EGFR epidermal growth factor receptor

Canonical transcript: NM_005228

2092 unique variant annotations were identified in 2614 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-55086755-G-C c.-216G>C - 5-UTRSNV 1/28 - 24
7-55086755-G-T c.-216G>T - 5-UTRSNV 1/28 - 24
7-55086780-A-C c.-191A>C - 5-UTRSNV 1/28 - 17
7-55086972-ATGCGACCCTCCGGGACGGCCGGGGCAGCGCTCCTGGCGCTGCTGGCTGCGCTCTGCCCG-A c.2_60del p.Met1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 1/28 - 1
7-55086974-CG-GA c.4_5delinsGA p.Arg2Glu Missense 1/28 - 1
7-55086975-G-A c.5G>A p.Arg2Gln Missense 1/28 - 1
7-55086993-G-GCCAGCGTGG c.23_24insCCAGCGTGG p.Gly8_Ala9insGlnArgGly InFrameInsertion 1/28 - 1
7-55086994-G-GTA c.24_25insTA p.Ala9* Nonsense 1/28 - 1
7-55086998-GCG-ATC c.28_30delinsATC p.Ala10Ile Missense 1/28 - 1
7-55086998-GC-AA c.28_29delinsAA p.Ala10Lys Missense 1/28 - 1
7-55086998-GCG-TGT c.28_30delinsTGT p.Ala10Cys Missense 1/28 - 2
7-55086998-GC-CT c.28_29delinsCT p.Ala10Leu Missense 1/28 - 1
7-55086998-GCG-TTT c.28_30delinsTTT p.Ala10Phe Missense 1/28 - 2
7-55087000-G-T c.30G>T p.Ala10Ala Synonymous 1/28 - 2
7-55087000-G-A c.30G>A p.Ala10Ala Synonymous 1/28 - 2
7-55087000-G-C c.30G>C p.Ala10Ala Synonymous 1/28 - 2
7-55087001-CT-GC c.31_32delinsGC p.Leu11Ala Missense 1/28 - 1
7-55087001-CT-GA c.31_32delinsGA p.Leu11Asp Missense 1/28 - 1
7-55087004-C-A c.34C>A p.Leu12Met Missense 1/28 - 1
7-55087004-CTG-TGT c.34_36delinsTGT p.Leu12Cys Missense 1/28 - 1
7-55087004-CTG-GAC c.34_36delinsGAC p.Leu12Asp Missense 1/28 - 1
7-55087007-G-A c.37G>A p.Ala13Thr Missense 1/28 - 1
7-55087007-G-T c.37G>T p.Ala13Ser Missense 1/28 - 2
7-55087008-C-T c.38C>T p.Ala13Val Missense 1/28 - 2
7-55087008-CG-AC c.38_39delinsAC p.Ala13Asp Missense 1/28 - 1
7-55087010-CTG-ATC c.40_42delinsATC p.Leu14Ile Missense 1/28 - 1
7-55087010-CTG-GAC c.40_42delinsGAC p.Leu14Asp Missense 1/28 - 1
7-55087010-CT-GA c.40_41delinsGA p.Leu14Glu Missense 1/28 - 1
7-55087010-CT-GC c.40_41delinsGC p.Leu14Ala Missense 1/28 - 1
7-55087010-CT-GG c.40_41delinsGG p.Leu14Gly Missense 1/28 - 1
7-55087011-TG-AT c.41_42delinsAT p.Leu14His Missense 1/28 - 2
7-55087013-CTG-ATC c.43_45delinsATC p.Leu15Ile Missense 1/28 - 1
7-55087013-CT-GG c.43_44delinsGG p.Leu15Gly Missense 1/28 - 1
7-55087013-CT-GC c.43_44delinsGC p.Leu15Ala Missense 1/28 - 1
7-55087013-CTG-TTT c.43_45delinsTTT p.Leu15Phe Missense 1/28 - 1
7-55087013-CTG-GAC c.43_45delinsGAC p.Leu15Asp Missense 1/28 - 1
7-55087013-CT-GA c.43_44delinsGA p.Leu15Glu Missense 1/28 - 2
7-55087013-C-A c.43C>A p.Leu15Met Missense 1/28 - 1
7-55087014-T-C c.44T>C p.Leu15Pro Missense 1/28 - 1
7-55087014-TG-AT c.44_45delinsAT p.Leu15His Missense 1/28 - 1
7-55087017-C-G c.47C>G p.Ala16Gly Missense 1/28 - 2
7-55087017-C-T c.47C>T p.Ala16Val Missense 1/28 - 2
7-55087018-T-C c.48T>C p.Ala16Ala Synonymous 1/28 - 1
7-55087018-T-A c.48T>A p.Ala16Ala Synonymous 1/28 - 1
7-55087018-T-G c.48T>G p.Ala16Ala Synonymous 1/28 - 1
7-55087020-C-A c.50C>A p.Ala17Glu Missense 1/28 - 1
7-55087026-G-C c.56G>C p.Cys19Ser Missense 1/28 - 2
7-55087025-T-A c.55T>A p.Cys19Ser Missense 1/28 - 2
7-55087025-TGC-ATG c.55_57delinsATG p.Cys19Met Missense 1/28 - 1
7-55087025-T-G c.55T>G p.Cys19Gly Missense 1/28 - 1
7-55087027-C-A c.57C>A p.Cys19* Nonsense 1/28 - 2
7-55087027-C-T c.57C>T p.Cys19Cys Synonymous 1/28 - 1
7-55087028-CCG-GAC c.58_60delinsGAC p.Pro20Asp Missense 1/28 - 1
7-55087028-C-A c.58C>A p.Pro20Thr Missense 1/28 - 1
7-55087028-CC-GA c.58_59delinsGA p.Pro20Glu Missense 1/28 - 1
7-55087028-CC-AA c.58_59delinsAA p.Pro20Lys Missense 1/28 - 1
7-55087028-CCG-TGT c.58_60delinsTGT p.Pro20Cys Missense 1/28 - 1
7-55087031-GCG-TTT c.61_63delinsTTT p.Ala21Phe Missense 1/28 - 2
7-55087032-C-A c.62C>A p.Ala21Glu Missense 1/28 - 1
7-55087034-AG-GA c.64_65delinsGA p.Ser22Asp Missense 1/28 - 1
7-55087034-A-G c.64A>G p.Ser22Gly Missense 1/28 - 1
7-55087034-AG-TT c.64_65delinsTT p.Ser22Phe Missense 1/28 - 1
7-55087034-AGT-GAG c.64_66delinsGAG p.Ser22Glu Missense 1/28 - 1
7-55087035-G-A c.65G>A p.Ser22Asn Missense 1/28 - 6
7-55087035-GT-TG c.65_66delinsTG p.Ser22Met Missense 1/28 - 1
7-55087037-C-G c.67C>G p.Arg23Gly Missense 1/28 - 1
7-55087038-GG-AT c.68_69delinsAT p.Arg23His Missense 1/28 - 1
7-55087040-GC-TT c.70_71delinsTT p.Ala24Phe Missense 1/28 - 1
7-55087042-T-G c.72T>G p.Ala24Ala Synonymous 1/28 - 3
7-55087042-T-C c.72T>C p.Ala24Ala Synonymous 1/28 - 3
7-55087042-T-A c.72T>A p.Ala24Ala Synonymous 1/28 - 3
7-55087043-CTG-TGT c.73_75delinsTGT p.Leu25Cys Missense 1/28 - 1
7-55087043-C-T c.73C>T p.Leu25Leu Synonymous 1/28 - 1
7-55087046-GAG-TGT c.76_78delinsTGT p.Glu26Cys Missense 1/28 - 1
7-55087049-G-C c.79G>C p.Glu27Gln Missense 1/28 - 1
7-55087051-A-AGGC c.81_82insGGC p.Glu27_Lys28insGly InFrameInsertion 1/28 - 1
7-55087052-AAG-TAT c.82_84delinsTAT p.Lys28Tyr Missense 1/28 - 1
7-55087052-AA-CT c.82_83delinsCT p.Lys28Leu Missense 1/28 - 1
7-55087052-AA-GC c.82_83delinsGC p.Lys28Ala Missense 1/28 - 1
7-55087053-A-G c.83A>G p.Lys28Arg Missense 1/28 - 1
7-55087056-A-G c.86A>G p.Lys29Arg Missense 1/28 - 4
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
7-55095197-A-G c.88+8139A>G - IntronicSNV - 1/27 14
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 3
7-55112410-G-C c.88+25352G>C - IntronicSNV - 1/27 1
7-55112410-G-A c.88+25352G>A - IntronicSNV - 1/27 1
7-55112827-G-C c.88+25769G>C - IntronicSNV - 1/27 1
7-55112827-G-A c.88+25769G>A - 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 4
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-C c.88+37643T>C - IntronicSNV - 1/27 1
7-55124701-T-A c.88+37643T>A - IntronicSNV - 1/27 1
7-55128207-A-T c.88+41149A>T - IntronicSNV - 1/27 2
7-55128207-A-G c.88+41149A>G - 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 1
7-55134819-A-G c.88+47761A>G - IntronicSNV - 1/27 1
7-55134872-A-G c.88+47814A>G - IntronicSNV - 1/27 10
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-C c.88+57098T>C - IntronicSNV - 1/27 3
7-55144156-T-A c.88+57098T>A - 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 1
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 2
7-55154586-G-C c.89-55393G>C - IntronicSNV - 1/27 2
7-55154586-G-A c.89-55393G>A - 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 3
7-55154688-A-T c.89-55291A>T - IntronicSNV - 1/27 3
7-55156071-G-A c.89-53908G>A - IntronicSNV - 1/27 5
7-55156419-T-A c.89-53560T>A - IntronicSNV - 1/27 3
7-55159349-A-T c.89-50630A>T - IntronicSNV - 1/27 32
7-55159349-A-G c.89-50630A>G - IntronicSNV - 1/27 32
7-55160538-A-G c.89-49441A>G - IntronicSNV - 1/27 1
7-55160995-T-C c.89-48984T>C - IntronicSNV - 1/27 1
7-55160995-T-A c.89-48984T>A - IntronicSNV - 1/27 1
7-55161043-G-C c.89-48936G>C - IntronicSNV - 1/27 4
7-55161043-G-A c.89-48936G>A - 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 5
7-55162305-A-G c.89-47674A>G - IntronicSNV - 1/27 1
7-55162336-T-C c.89-47643T>C - IntronicSNV - 1/27 6
7-55163255-T-C c.89-46724T>C - IntronicSNV - 1/27 1
7-55168692-A-G c.89-41287A>G - IntronicSNV - 1/27 6
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-T c.89-36304C>T - IntronicSNV - 1/27 2
7-55173675-C-G c.89-36304C>G - IntronicSNV - 1/27 2
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-T c.89-30770G>T - IntronicSNV - 1/27 1
7-55179209-G-A c.89-30770G>A - 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-T c.89-28537G>T - IntronicSNV - 1/27 2
7-55181442-G-A c.89-28537G>A - 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 5
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-T c.89-9467G>T - IntronicSNV - 1/27 3
7-55200512-G-A c.89-9467G>A - IntronicSNV - 1/27 3
7-55201776-G-C c.89-8203G>C - IntronicSNV - 1/27 1
7-55201776-G-A c.89-8203G>A - 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-GTTTGCCAAGGCACGAGTAACAAGCTCACGCAGTTGGGCACTTTTGAAGATCATTTTCTC-G c.89_147del p.Val30Glufs*8 Unclassified 2/28 - 3
7-55209984-CAA-AAC c.94_96delinsAAC p.Gln32Asn Missense 2/28 - 1
7-55209984-CA-GC c.94_95delinsGC p.Gln32Ala Missense 2/28 - 1
7-55209985-A-G c.95A>G p.Gln32Arg Missense 2/28 - 1
7-55209987-G-A c.97G>A p.Gly33Ser Missense 2/28 - 1
7-55209987-GGC-AAG c.97_99delinsAAG p.Gly33Lys Missense 2/28 - 1
7-55209988-G-A c.98G>A p.Gly33Asp Missense 2/28 - 1
7-55209990-ACG-TGT c.100_102delinsTGT p.Thr34Cys Missense 2/28 - 1
7-55209990-A-G c.100A>G p.Thr34Ala Missense 2/28 - 4
7-55209991-CG-AC c.101_102delinsAC p.Thr34Asn Missense 2/28 - 3
7-55209993-AG-GA c.103_104delinsGA p.Ser35Asp Missense 2/28 - 2
7-55209993-AG-GC c.103_104delinsGC p.Ser35Ala Missense 2/28 - 2
7-55209993-A-T c.103A>T p.Ser35Cys Missense 2/28 - 1
7-55209994-G-A c.104G>A p.Ser35Asn Missense 2/28 - 1
7-55209996-AAC-CAA c.106_108delinsCAA p.Asn36Gln Missense 2/28 - 1
7-55210000-A-G c.110A>G p.Lys37Arg Missense 2/28 - 1
7-55210002-C-T c.112C>T p.Leu38Phe Missense 2/28 - 3
7-55210002-CT-GA c.112_113delinsGA p.Leu38Asp Missense 2/28 - 1
7-55210006-CG-AC c.116_117delinsAC p.Thr39Asn Missense 2/28 - 1
7-55210009-A-C c.119A>C p.Gln40Pro Missense 2/28 - 1
7-55210015-G-T c.125G>T p.Gly42Val Missense 2/28 - 1
7-55210017-AC-GA c.127_128delinsGA p.Thr43Asp Missense 2/28 - 1
7-55210021-T-G c.131T>G p.Phe44Cys Missense 2/28 - 1
7-55210022-T-C c.132T>C p.Phe44Phe Synonymous 2/28 - 1
7-55210024-A-C c.134A>C p.Glu45Ala Missense 2/28 - 1
7-55210026-G-A c.136G>A p.Asp46Asn Missense 2/28 - 2
7-55210032-TTT-CAA c.142_144delinsCAA p.Phe48Gln Missense 2/28 - 1
7-55210032-TT-GC c.142_143delinsGC p.Phe48Ala Missense 2/28 - 1
7-55210033-T-A c.143T>A p.Phe48Tyr Missense 2/28 - 1
7-55210035-C-T c.145C>T p.Leu49Phe Missense 2/28 - 1
7-55210038-AGC-GAG c.148_150delinsGAG p.Ser50Glu Missense 2/28 - 1
7-55210038-AG-GC c.148_149delinsGC p.Ser50Ala Missense 2/28 - 1
7-55210044-CCAGAGGATGTTCAATAACTGTGAGGTGGTCCTTGGGAATTTGGAAATTACCTATGTGCA-C c.154_212del p.Gln52Glufs*4 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/28 - 1
7-55210058-T-A c.168T>A p.Asn56Lys Missense 2/28 - 1
7-55210058-T-G c.168T>G p.Asn56Lys Missense 2/28 - 1
7-55210062-TG-GC c.172_173delinsGC p.Cys58Ala Missense 2/28 - 1
7-55210064-T-C c.174T>C p.Cys58Cys Synonymous 2/28 - 1
7-55210072-T-C c.182T>C p.Val61Ala Missense 2/28 - 1
7-55210075-T-G c.185T>G p.Leu62Arg Missense 2/28 - 5
7-55210077-GG-AA c.187_188delinsAA p.Gly63Lys Missense 2/28 - 1
7-55210077-G-C c.187G>C p.Gly63Arg Missense 2/28 - 3
7-55210077-G-A c.187G>A p.Gly63Arg Missense 2/28 - 3
7-55210083-TT-GC c.193_194delinsGC p.Leu65Ala Missense 2/28 - 1
7-55210083-TTG-CAT c.193_195delinsCAT p.Leu65His Missense 2/28 - 1
7-55210083-TT-AC c.193_194delinsAC p.Leu65Thr Missense 2/28 - 1
7-55210086-G-A c.196G>A p.Glu66Lys Missense 2/28 - 1
7-55210087-A-C c.197A>C p.Glu66Ala Missense 2/28 - 1
7-55210088-A-G c.198A>G p.Glu66Glu Synonymous 2/28 - 1
7-55210091-T-A c.201T>A p.Ile67Ile Synonymous 2/28 - 1
7-55210091-T-C c.201T>C p.Ile67Ile Synonymous 2/28 - 1
7-55210092-AC-TT c.202_203delinsTT p.Thr68Phe Missense 2/28 - 2
7-55210092-ACC-GAG c.202_204delinsGAG p.Thr68Glu Missense 2/28 - 1
7-55210093-CC-TG c.203_204delinsTG p.Thr68Met Missense 2/28 - 1
7-55210098-G-C c.208G>C p.Val70Leu Missense 2/28 - 1
7-55210098-G-T c.208G>T p.Val70Leu Missense 2/28 - 1
7-55210099-T-C c.209T>C p.Val70Ala Missense 2/28 - 1
7-55210102-A-T c.212A>T p.Gln71Leu Missense 2/28 - 9
7-55210104-AG-GC c.214_215delinsGC p.Arg72Ala Missense 2/28 - 2
7-55210104-AG-CC c.214_215delinsCC p.Arg72Pro Missense 2/28 - 19
7-55210105-G-A c.215G>A p.Arg72Lys Missense 2/28 - 1
7-55210110-TA-GC c.220_221delinsGC p.Tyr74Ala Missense 2/28 - 1
7-55210111-A-G c.221A>G p.Tyr74Cys Missense 2/28 - 1
7-55210115-T-C c.225T>C p.Asp75Asp Synonymous 2/28 - 2
7-55210119-T-G c.229T>G p.Ser77Ala Missense 2/28 - 1
7-55210122-TTC-GAG c.232_234delinsGAG p.Phe78Glu Missense 2/28 - 1
7-55210126-T-G c.236T>G p.Leu79* Nonsense 2/28 - 1
7-55210126-T-A c.236T>A p.Leu79* Nonsense 2/28 - 1
7-55210129-A-C c.239A>C p.Lys80Thr Missense 2/28 - 1
7-55210129-A-G c.239A>G p.Lys80Arg Missense 2/28 - 1
7-55210998-AC-GA c.241_242delinsGA p.Thr81Asp Missense 3/28 - 1
7-55211001-AT-GC c.244_245delinsGC p.Ile82Ala Missense 3/28 - 1
7-55211008-A-T c.251A>T p.Glu84Val Missense 3/28 - 1
7-55211008-A-C c.251A>C p.Glu84Ala Missense 3/28 - 1
7-55211013-GC-TT c.256_257delinsTT p.Ala86Phe Missense 3/28 - 1
7-55211014-C-A c.257C>A p.Ala86Asp Missense 3/28 - 2
7-55211014-CT-AG c.257_258inv p.Ala86Glu Missense 3/28 - 1
7-55211015-T-C c.258T>C p.Ala86Ala Synonymous 3/28 - 1
7-55211015-T-A c.258T>A p.Ala86Ala Synonymous 3/28 - 1
7-55211015-T-G c.258T>G p.Ala86Ala Synonymous 3/28 - 1
7-55211019-TA-GC c.262_263delinsGC p.Tyr88Ala Missense 3/28 - 1
7-55211022-GTC-ATG c.265_267delinsATG p.Val89Met Missense 3/28 - 2
7-55211022-G-C c.265G>C p.Val89Leu Missense 3/28 - 2
7-55211025-C-T c.268C>T p.Leu90Phe Missense 3/28 - 1
7-55211031-GC-TT c.274_275delinsTT p.Ala92Phe Missense 3/28 - 1
7-55211031-GC-TG c.274_275delinsTG p.Ala92Cys Missense 3/28 - 1
7-55211032-CC-AG c.275_276delinsAG p.Ala92Glu Missense 3/28 - 1
7-55211032-C-A c.275C>A p.Ala92Asp Missense 3/28 - 2
7-55211033-C-G c.276C>G p.Ala92Ala Synonymous 3/28 - 1
7-55211033-C-A c.276C>A p.Ala92Ala Synonymous 3/28 - 1
7-55211033-C-T c.276C>T p.Ala92Ala Synonymous 3/28 - 1
7-55211034-C-A c.277C>A p.Leu93Ile Missense 3/28 - 1
7-55211040-A-C c.283A>C p.Thr95Pro Missense 3/28 - 1
7-55211041-CA-TG c.284_285inv p.Thr95Met Missense 3/28 - 1
7-55211043-G-A c.286G>A p.Val96Met Missense 3/28 - 1
7-55211043-GT-AC c.286_287inv p.Val96Thr Missense 3/28 - 1
7-55211046-G-C c.289G>C p.Glu97Gln Missense 3/28 - 1
7-55211047-A-C c.290A>C p.Glu97Ala Missense 3/28 - 1
7-55211049-C-T c.292C>T p.Arg98* Nonsense 3/28 - 1
7-55211050-G-A c.293G>A p.Arg98Gln Missense 3/28 - 3
7-55211055-CCT-AAG c.298_300delinsAAG p.Pro100Lys Missense 3/28 - 1
7-55211055-C-A c.298C>A p.Pro100Thr Missense 3/28 - 1
7-55211055-C-G c.298C>G p.Pro100Ala Missense 3/28 - 3
7-55211057-T-G c.300T>G p.Pro100Pro Synonymous 3/28 - 1
7-55211064-AA-GC c.307_308delinsGC p.Asn103Ala Missense 3/28 - 1
7-55211068-T-A c.311T>A p.Leu104Gln Missense 3/28 - 1
7-55211068-T-G c.311T>G p.Leu104Arg Missense 3/28 - 1
7-55211070-CAG-TGT c.313_315delinsTGT p.Gln105Cys Missense 3/28 - 1
7-55211070-CAG-GAC c.313_315delinsGAC p.Gln105Asp Missense 3/28 - 1
7-55211070-C-A c.313C>A p.Gln105Lys Missense 3/28 - 2
7-55211076-A-G c.319A>G p.Ile107Val Missense 3/28 - 1
7-55211076-A-T c.319A>T p.Ile107Phe Missense 3/28 - 1
7-55211079-A-G c.322A>G p.Arg108Gly Missense 3/28 - 2
7-55211079-AGA-CAT c.322_324delinsCAT p.Arg108His Missense 3/28 - 1
7-55211080-G-A c.323G>A p.Arg108Lys Missense 3/28 - 43
7-55211083-G-A c.326G>A p.Gly109Glu Missense 3/28 - 1
7-55211091-TAC-GAG c.334_336delinsGAG p.Tyr112Glu Missense 3/28 - 1
7-55211092-A-T c.335A>T p.Tyr112Phe Missense 3/28 - 1
7-55211095-A-T c.338A>T p.Tyr113Phe Missense 3/28 - 1
7-55211095-TACGAAAATTCCTATGCCTTAGCAGTCTTATCTAACTATGATGCAAATAAAACCGGACTG-T c.339_397del p.Tyr113* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/28 - 1
7-55211096-C-T c.339C>T p.Tyr113Tyr Synonymous 3/28 - 1
7-55211097-G-A c.340G>A p.Glu114Lys Missense 3/28 - 4
7-55211101-A-T c.344A>T p.Asn115Ile Missense 3/28 - 1
7-55211101-A-C c.344A>C p.Asn115Thr Missense 3/28 - 1
7-55211103-T-G c.346T>G p.Ser116Ala Missense 3/28 - 1
7-55211103-TC-GA c.346_347inv p.Ser116Asp Missense 3/28 - 1
7-55211107-A-T c.350A>T p.Tyr117Phe Missense 3/28 - 1
7-55211107-A-G c.350A>G p.Tyr117Cys Missense 3/28 - 1
7-55211110-C-G c.353C>G p.Ala118Gly Missense 3/28 - 2
7-55211112-TTA-ATG c.355_357delinsATG p.Leu119Met Missense 3/28 - 1
7-55211113-T-C c.356T>C p.Leu119Ser Missense 3/28 - 1
7-55211115-G-C c.358G>C p.Ala120Pro Missense 3/28 - 1
7-55211116-C-A c.359C>A p.Ala120Glu Missense 3/28 - 1
7-55211124-T-G c.367T>G p.Ser123Ala Missense 3/28 - 3
7-55211129-C-G c.372C>G p.Asn124Lys Missense 3/28 - 2
7-55211129-C-A c.372C>A p.Asn124Lys Missense 3/28 - 2
7-55211136-G-A c.379G>A p.Ala127Thr Missense 3/28 - 1
7-55211139-A-G c.382A>G p.Asn128Asp Missense 3/28 - 1
7-55211143-AA-TG c.386_387delinsTG p.Lys129Met Missense 3/28 - 1
7-55211143-A-G c.386A>G p.Lys129Arg Missense 3/28 - 1
7-55211148-G-A c.391G>A p.Gly131Arg Missense 3/28 - 1
7-55211151-CT-GC c.394_395delinsGC p.Leu132Ala Missense 3/28 - 1
7-55211154-AA-GC c.397_398delinsGC p.Lys133Ala Missense 3/28 - 5
7-55211160-CTG-TAT c.403_405delinsTAT p.Leu135Tyr Missense 3/28 - 1
7-55211163-C-A c.406C>A p.Pro136Thr Missense 3/28 - 1
7-55211164-C-T c.407C>T p.Pro136Leu Missense 3/28 - 1
7-55211167-T-G c.410T>G p.Met137Arg Missense 3/28 - 1
7-55211168-G-C c.411G>C p.Met137Ile Missense 3/28 - 2
7-55211168-G-A c.411G>A p.Met137Ile Missense 3/28 - 2
7-55211168-G-T c.411G>T p.Met137Ile Missense 3/28 - 2
7-55211169-A-T c.412A>T p.Arg138* Nonsense 3/28 - 1
7-55211178-CA-AC c.421_422delinsAC p.Gln141Thr Missense 3/28 - 1
7-55211178-C-T c.421C>T p.Gln141* Nonsense 3/28 - 1
7-55211181-G-T c.424G>T p.Glu142* Nonsense 3/28 - 1
7-55211316-G-A c.424+135G>A - IntronicSNV - 3/27 1
7-55211879-A-G c.424+698A>G - IntronicSNV - 3/27 1
7-55214308-A-G c.434A>G p.His145Arg Missense 4/28 - 1
7-55214311-G-T c.437G>T p.Gly146Val Missense 4/28 - 1
7-55214313-G-C c.439G>C p.Ala147Pro Missense 4/28 - 1
7-55214314-C-A c.440C>A p.Ala147Asp Missense 4/28 - 1
7-55214319-C-T c.445C>T p.Arg149Trp Missense 4/28 - 1
7-55214325-AG-GC c.451_452delinsGC p.Ser151Ala Missense 4/28 - 3
7-55214325-AG-GA c.451_452delinsGA p.Ser151Asp Missense 4/28 - 1
7-55214344-G-A c.470G>A p.Cys157Tyr Missense 4/28 - 1
7-55214346-A-G c.472A>G p.Asn158Asp Missense 4/28 - 1
7-55214346-AA-GG c.472_473delinsGG p.Asn158Gly Missense 4/28 - 1
7-55214347-A-G c.473A>G p.Asn158Ser Missense 4/28 - 1
7-55214348-C-T c.474C>T p.Asn158Asn Synonymous 4/28 - 18
7-55214350-T-A c.476T>A p.Val159Glu Missense 4/28 - 1
7-55214352-G-T c.478G>T p.Glu160* Nonsense 4/28 - 1
7-55214354-G-A c.480G>A p.Glu160Glu Synonymous 4/28 - 1
7-55214358-A-T c.484A>T p.Ile162Phe Missense 4/28 - 1
7-55214360-C-G c.486C>G p.Ile162Met Missense 4/28 - 1
7-55214361-CAG-GAC c.487_489delinsGAC p.Gln163Asp Missense 4/28 - 1
7-55214362-A-T c.488A>T p.Gln163Leu Missense 4/28 - 1
7-55214367-CG-AA c.493_494delinsAA p.Arg165Lys Missense 4/28 - 1
7-55214367-C-T c.493C>T p.Arg165Trp Missense 4/28 - 1
7-55214368-G-A c.494G>A p.Arg165Gln Missense 4/28 - 1
7-55214379-AGC-GAG c.505_507delinsGAG p.Ser169Glu Missense 4/28 - 1
7-55214379-AG-GC c.505_506delinsGC p.Ser169Ala Missense 4/28 - 1
7-55214385-GA-AG c.511_512delinsAG p.Asp171Ser Missense 4/28 - 1
7-55214387-C-T c.513C>T p.Asp171Asp Synonymous 4/28 - 1
7-55214397-AAC-CAA c.523_525delinsCAA p.Asn175Gln Missense 4/28 - 1
7-55214399-C-A c.525C>A p.Asn175Lys Missense 4/28 - 1
7-55214399-C-G c.525C>G p.Asn175Lys Missense 4/28 - 1
7-55214403-T-G c.529T>G p.Ser177Ala Missense 4/28 - 1
7-55214404-C-A c.530C>A p.Ser177* Nonsense 4/28 - 1
7-55214405-G-A c.531G>A p.Ser177Ser Synonymous 4/28 - 1
7-55214405-G-C c.531G>C p.Ser177Ser Synonymous 4/28 - 1
7-55214410-A-G c.536A>G p.Asp179Gly Missense 4/28 - 1
7-55214415-CA-AC c.541_542delinsAC p.Gln181Thr Missense 4/28 - 1
7-55214415-C-A c.541C>A p.Gln181Lys Missense 4/28 - 1
7-55214417-G-C c.543G>C p.Gln181His Missense 4/28 - 1
7-55214417-G-T c.543G>T p.Gln181His Missense 4/28 - 1
7-55214418-AAC-CAA c.544_546delinsCAA p.Asn182Gln Missense 4/28 - 3
7-55214443-G-A c.559+10G>A - IntronicSNV - 4/27 4
7-55214647-G-T c.559+214G>T - IntronicSNV - 4/27 1
7-55215018-A-C c.559+585A>C - IntronicSNV - 4/27 9
7-55215661-C-T c.559+1228C>T - IntronicSNV - 4/27 1
7-55218903-T-C c.560-84T>C - IntronicSNV - 4/27 3
7-55218994-G-C c.567G>C p.Lys189Asn Missense 5/28 - 1
7-55218994-G-T c.567G>T p.Lys189Asn Missense 5/28 - 1
7-55219001-C-T c.574C>T p.Pro192Ser Missense 5/28 - 1
7-55219008-G-C c.581G>C p.Cys194Ser Missense 5/28 - 2
7-55219007-T-A c.580T>A p.Cys194Ser Missense 5/28 - 2
7-55219007-TG-GC c.580_581delinsGC p.Cys194Ala Missense 5/28 - 1
7-55219013-A-G c.586A>G p.Asn196Asp Missense 5/28 - 1
7-55219019-AGC-GAG c.592_594delinsGAG p.Ser198Glu Missense 5/28 - 1
7-55219022-TG-GT c.595_596delinsGT p.Cys199Val Missense 5/28 - 1
7-55219023-G-C c.596G>C p.Cys199Ser Missense 5/28 - 2
7-55219022-T-A c.595T>A p.Cys199Ser Missense 5/28 - 2
7-55219034-GGA-TGT c.607_609delinsTGT p.Gly203Cys Missense 5/28 - 1
7-55219034-G-C c.607G>C p.Gly203Arg Missense 5/28 - 6
7-55219034-G-A c.607G>A p.Gly203Arg Missense 5/28 - 6
7-55219035-G-C c.608G>C p.Gly203Ala Missense 5/28 - 1
7-55219159-C-T c.628+104C>T - IntronicSNV - 5/27 4
7-55219159-C-G c.628+104C>G - IntronicSNV - 5/27 4
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 6
7-55220239-T-A c.629T>A p.Leu210Gln Missense 6/28 - 1
7-55220254-G-C c.644G>C p.Cys215Ser Missense 6/28 - 2
7-55220253-TG-GC c.643_644delinsGC p.Cys215Ala Missense 6/28 - 1
7-55220253-T-A c.643T>A p.Cys215Ser Missense 6/28 - 2
7-55220253-T-G c.643T>G p.Cys215Gly Missense 6/28 - 1
7-55220265-T-C c.655T>C p.Cys219Arg Missense 6/28 - 1
7-55220268-TCC-GAG c.658_660delinsGAG p.Ser220Glu Missense 6/28 - 2
7-55220274-CGC-TGA c.664_666delinsTGA p.Arg222* Nonsense 6/28 - 1
7-55220274-C-T c.664C>T p.Arg222Cys Missense 6/28 - 8
7-55220274-CG-GC c.664_665delinsGC p.Arg222Ala Missense 6/28 - 1
7-55220277-T-C c.667T>C p.Cys223Arg Missense 6/28 - 2
7-55220277-TGC-GAG c.667_669delinsGAG p.Cys223Glu Missense 6/28 - 1
7-55220281-GT-AA c.671_672delinsAA p.Arg224Gln Missense 6/28 - 1
7-55220284-G-A c.674G>A p.Gly225Asp Missense 6/28 - 1
7-55220290-C-A c.680C>A p.Ser227Tyr Missense 6/28 - 1
7-55220292-CCC-GAG c.682_684delinsGAG p.Pro228Glu Missense 6/28 - 1
7-55220292-C-T c.682C>T p.Pro228Ser Missense 6/28 - 2
7-55220293-C-G c.683C>G p.Pro228Arg Missense 6/28 - 1
7-55220295-AGT-GAG c.685_687delinsGAG p.Ser229Glu Missense 6/28 - 1
7-55220295-AG-GA c.685_686delinsGA p.Ser229Asp Missense 6/28 - 2
7-55220295-AG-GC c.685_686delinsGC p.Ser229Ala Missense 6/28 - 2
7-55220295-A-T c.685A>T p.Ser229Cys Missense 6/28 - 2
7-55220295-AG-CC c.685_686delinsCC p.Ser229Pro Missense 6/28 - 1
7-55220313-CAG-GAC c.703_705delinsGAC p.Gln235Asp Missense 6/28 - 1
7-55220316-T-C c.706T>C p.Cys236Arg Missense 6/28 - 1
7-55220325-GG-AC c.715_716delinsAC p.Gly239Thr Missense 6/28 - 1
7-55220328-T-C c.718T>C p.Cys240Arg Missense 6/28 - 1
7-55220332-C-A c.722C>A p.Thr241Lys Missense 6/28 - 1
7-55220332-CA-TG c.722_723inv p.Thr241Met Missense 6/28 - 3
7-55220335-G-T c.725G>T p.Gly242Val Missense 6/28 - 1
7-55220338-C-G c.728C>G p.Pro243Arg Missense 6/28 - 1
7-55220340-CG-TA c.730_731delinsTA p.Arg244* Nonsense 6/28 - 1
7-55220343-G-T c.733G>T p.Glu245* Nonsense 6/28 - 2
7-55220346-AG-TT c.736_737delinsTT p.Ser246Phe Missense 6/28 - 1
7-55220349-G-T c.739G>T p.Asp247Tyr Missense 6/28 - 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 7
7-55221710-C-T c.754C>T p.Arg252Cys Missense 7/28 - 1
7-55221710-CG-GA c.754_755delinsGA p.Arg252Asp Missense 7/28 - 1
7-55221711-G-C c.755G>C p.Arg252Pro Missense 7/28 - 1
7-55221713-AA-GC c.757_758delinsGC p.Lys253Ala Missense 7/28 - 1
7-55221714-A-G c.758A>G p.Lys253Arg Missense 7/28 - 1
7-55221715-A-C c.759A>C p.Lys253Asn Missense 7/28 - 1
7-55221715-A-T c.759A>T p.Lys253Asn Missense 7/28 - 1
7-55221716-T-A c.760T>A p.Phe254Ile Missense 7/28 - 3
7-55221720-G-A c.764G>A p.Arg255Gln Missense 7/28 - 1
7-55221728-G-C c.772G>C p.Ala258Pro Missense 7/28 - 1
7-55221732-C-T c.776C>T p.Thr259Met Missense 7/28 - 1
7-55221735-G-A c.779G>A p.Cys260Tyr Missense 7/28 - 2
7-55221741-A-C c.785A>C p.Asp262Ala Missense 7/28 - 2
7-55221743-A-C c.787A>C p.Thr263Pro Missense 7/28 - 22
7-55221749-C-G c.793C>G p.Pro265Ala Missense 7/28 - 1
7-55221753-C-G c.797C>G p.Pro266Arg Missense 7/28 - 1
7-55221759-T-C c.803T>C p.Met268Thr Missense 7/28 - 1
7-55221761-CTC-ATG c.805_807delinsATG p.Leu269Met Missense 7/28 - 1
7-55221765-A-G c.809A>G p.Tyr270Cys Missense 7/28 - 2
7-55221772-C-A c.816C>A p.Pro272Pro Synonymous 7/28 - 1
7-55221777-CG-TC c.821_822delinsTC p.Thr274Ile Missense 7/28 - 2
7-55221778-G-A c.822G>A p.Thr274Thr Synonymous 7/28 - 1
7-55221780-A-T c.824A>T p.Tyr275Phe Missense 7/28 - 1
7-55221783-A-G c.827A>G p.Gln276Arg Missense 7/28 - 1
7-55221785-AT-GA c.829_830delinsGA p.Met277Glu Missense 7/28 - 2
7-55221788-G-A c.832G>A p.Asp278Asn Missense 7/28 - 1
7-55221793-GA-CG c.837_838delinsCG p.Asn280Asp Missense 7/28 - 1
7-55221794-A-G c.838A>G p.Asn280Asp Missense 7/28 - 1
7-55221797-C-G c.841C>G p.Pro281Ala Missense 7/28 - 1
7-55221797-C-A c.841C>A p.Pro281Thr Missense 7/28 - 1
7-55221800-G-A c.844G>A p.Glu282Lys Missense 7/28 - 3
7-55221802-G-T c.846G>T p.Glu282Asp Missense 7/28 - 1
7-55221803-G-A c.847G>A p.Gly283Ser Missense 7/28 - 1
7-55221810-A-G c.854A>G p.Tyr285Cys Missense 7/28 - 2
7-55221810-A-T c.854A>T p.Tyr285Phe Missense 7/28 - 1
7-55221814-C-G c.858C>G p.Ser286Arg Missense 7/28 - 1
7-55221814-C-A c.858C>A p.Ser286Arg Missense 7/28 - 1
7-55221812-A-C c.856A>C p.Ser286Arg Missense 7/28 - 1
7-55221818-G-A c.862G>A p.Gly288Ser Missense 7/28 - 1
7-55221819-G-T c.863G>T p.Gly288Val Missense 7/28 - 1
7-55221821-G-A c.865G>A p.Ala289Thr Missense 7/28 - 9
7-55221821-GCC-TAA c.865_867delinsTAA p.Ala289* Nonsense 7/28 - 2
7-55221821-G-C c.865G>C p.Ala289Pro Missense 7/28 - 1
7-55221821-GC-AT c.865_866delinsAT p.Ala289Ile Missense 7/28 - 1
7-55221821-GC-AA c.865_866delinsAA p.Ala289Asn Missense 7/28 - 1
7-55221822-C-T c.866C>T p.Ala289Val Missense 7/28 - 60
7-55221822-C-A c.866C>A p.Ala289Asp Missense 7/28 - 15
7-55221823-C-G c.867C>G p.Ala289Ala Synonymous 7/28 - 1
7-55221823-C-A c.867C>A p.Ala289Ala Synonymous 7/28 - 1
7-55221823-C-T c.867C>T p.Ala289Ala Synonymous 7/28 - 1
7-55221825-CC-TG c.869_870delinsTG p.Thr290Met Missense 7/28 - 1
7-55221830-G-A c.874G>A p.Val292Met Missense 7/28 - 1
7-55221830-G-C c.874G>C p.Val292Leu Missense 7/28 - 2
7-55221830-G-T c.874G>T p.Val292Leu Missense 7/28 - 2
7-55221832-G-A c.876G>A p.Val292Val Synonymous 7/28 - 1
7-55221834-A-C c.878A>C p.Lys293Thr Missense 7/28 - 1
7-55221836-A-G c.880A>G p.Lys294Glu Missense 7/28 - 1
7-55221837-A-G c.881A>G p.Lys294Arg Missense 7/28 - 1
7-55221840-G-A c.884G>A p.Cys295Tyr Missense 7/28 - 1
7-55221842-C-T c.886C>T p.Pro296Ser Missense 7/28 - 1
7-55223176-G-A c.890-347G>A - IntronicSNV - 7/27 2
7-55223525-AA-GC c.892_893delinsGC p.Asn298Ala Missense 8/28 - 2
7-55223534-GGTG-G c.901_903del p.Val301del InFrameDeletion 8/28 - 1
7-55223537-ACA-CAT c.904_906delinsCAT p.Thr302His Missense 8/28 - 1
7-55223537-ACA-TGT c.904_906inv p.Thr302Cys Missense 8/28 - 1
7-55223554-C-T c.921C>T p.Cys307Cys Synonymous 8/28 - 1
7-55223555-GT-AG c.922_923delinsAG p.Val308Ser Missense 8/28 - 1
7-55223558-CG-GC c.925_926delinsGC p.Arg309Ala Missense 8/28 - 2
7-55223558-C-T c.925C>T p.Arg309* Nonsense 8/28 - 1
7-55223573-G-A c.940G>A p.Asp314Asn Missense 8/28 - 1
7-55223574-A-C c.941A>C p.Asp314Ala Missense 8/28 - 3
7-55223577-G-C c.944G>C p.Ser315Thr Missense 8/28 - 1
7-55223580-A-T c.947A>T p.Tyr316Phe Missense 8/28 - 1
7-55223582-G-A c.949G>A p.Glu317Lys Missense 8/28 - 1
7-55223582-G-T c.949G>T p.Glu317* Nonsense 8/28 - 1
7-55223583-A-C c.950A>C p.Glu317Ala Missense 8/28 - 2
7-55223587-G-A c.954G>A p.Met318Ile Missense 8/28 - 1
7-55223587-G-T c.954G>T p.Met318Ile Missense 8/28 - 1
7-55223587-G-C c.954G>C p.Met318Ile Missense 8/28 - 1
7-55223589-A-G c.956A>G p.Glu319Gly Missense 8/28 - 1
7-55223591-G-C c.958G>C p.Glu320Gln Missense 8/28 - 1
7-55223592-A-C c.959A>C p.Glu320Ala Missense 8/28 - 1
7-55223594-G-A c.961G>A p.Asp321Asn Missense 8/28 - 1
7-55223597-G-A c.964G>A p.Gly322Ser Missense 8/28 - 3
7-55223597-G-T c.964G>T p.Gly322Cys Missense 8/28 - 1
7-55223600-GT-CA c.967_968delinsCA p.Val323His Missense 8/28 - 1
7-55223600-GT-AC c.967_968inv p.Val323Thr Missense 8/28 - 1
7-55223600-GT-AG c.967_968delinsAG p.Val323Ser Missense 8/28 - 1
7-55223600-G-C c.967G>C p.Val323Leu Missense 8/28 - 1
7-55223600-GT-TG c.967_968delinsTG p.Val323Cys Missense 8/28 - 1
7-55223601-TC-AG c.968_969delinsAG p.Val323Glu Missense 8/28 - 1
7-55223601-T-G c.968T>G p.Val323Gly Missense 8/28 - 1
7-55223601-T-C c.968T>C p.Val323Ala Missense 8/28 - 1
7-55223601-T-A c.968T>A p.Val323Asp Missense 8/28 - 1
7-55223604-G-T c.971G>T p.Arg324Leu Missense 8/28 - 9
7-55223609-T-C c.976T>C p.Cys326Arg Missense 8/28 - 2
7-55223610-G-C c.977G>C p.Cys326Ser Missense 8/28 - 2
7-55223609-T-G c.976T>G p.Cys326Gly Missense 8/28 - 1
7-55223609-T-A c.976T>A p.Cys326Ser Missense 8/28 - 2
7-55223610-G-T c.977G>T p.Cys326Phe Missense 8/28 - 2
7-55223610-G-A c.977G>A p.Cys326Tyr Missense 8/28 - 1
7-55223612-A-G c.979A>G p.Lys327Glu Missense 8/28 - 1
7-55223618-T-C c.985T>C p.Cys329Arg Missense 8/28 - 1
7-55223621-G-A c.988G>A p.Glu330Lys Missense 8/28 - 5
7-55223624-GGG-AGC c.991_993delinsAGC p.Gly331Ser Missense 8/28 - 1
7-55223627-C-T c.994C>T p.Pro332Ser Missense 8/28 - 1
7-55223630-T-TT c.997dup p.Cys333Leufs*6 Frameshift 8/28 - 1
7-55223633-C-T c.1000C>T p.Arg334Cys Missense 8/28 - 1
7-55223633-CGC-TGG c.1000_1002delinsTGG p.Arg334Trp Missense 8/28 - 1
7-55224229-G-C c.1010G>C p.Cys337Ser Missense 9/28 - 1
7-55224228-T-A c.1009T>A p.Cys337Ser Missense 9/28 - 1
7-55224229-G-T c.1010G>T p.Cys337Phe Missense 9/28 - 1
7-55224237-A-G c.1018A>G p.Ile340Val Missense 9/28 - 1
7-55224250-A-G c.1031A>G p.Glu344Gly Missense 9/28 - 1
7-55224252-T-C c.1033T>C p.Phe345Leu Missense 9/28 - 2
7-55224254-T-A c.1035T>A p.Phe345Leu Missense 9/28 - 2
7-55224254-T-G c.1035T>G p.Phe345Leu Missense 9/28 - 2
7-55224262-CA-GT c.1043_1044delinsGT p.Ser348Cys Missense 9/28 - 1
7-55224288-AA-GC c.1069_1070delinsGC p.Lys357Ala Missense 9/28 - 1
7-55224291-CAC-ATG c.1072_1074delinsATG p.His358Met Missense 9/28 - 1
7-55224291-CA-GC c.1072_1073delinsGC p.His358Ala Missense 9/28 - 3
7-55224292-A-G c.1073A>G p.His358Arg Missense 9/28 - 3
7-55224294-TT-GC c.1075_1076delinsGC p.Phe359Ala Missense 9/28 - 3
7-55224294-T-G c.1075T>G p.Phe359Val Missense 9/28 - 13
7-55224295-T-G c.1076T>G p.Phe359Cys Missense 9/28 - 3
7-55224297-AAA-GAC c.1078_1080delinsGAC p.Lys360Asp Missense 9/28 - 1
7-55224297-A-G c.1078A>G p.Lys360Glu Missense 9/28 - 3
7-55224300-A-G c.1081A>G p.Asn361Asp Missense 9/28 - 1
7-55224306-A-G c.1087A>G p.Thr363Ala Missense 9/28 - 1
7-55224307-C-A c.1088C>A p.Thr363Asn Missense 9/28 - 1
7-55224307-C-T c.1088C>T p.Thr363Ile Missense 9/28 - 1
7-55224309-TC-CA c.1090_1091delinsCA p.Ser364His Missense 9/28 - 3
7-55224313-T-A c.1094T>A p.Ile365Asn Missense 9/28 - 1
7-55224321-GA-CG c.1102_1103delinsCG p.Asp368Arg Missense 9/28 - 1
7-55224321-G-A c.1102G>A p.Asp368Asn Missense 9/28 - 2
7-55224330-CATC-C c.1111_1113del p.Ile371del InFrameDeletion 9/28 - 1
7-55224333-C-A c.1114C>A p.Leu372Met Missense 9/28 - 1
7-55224336-C-T c.1117C>T p.Pro373Ser Missense 9/28 - 1
7-55224337-C-T c.1118C>T p.Pro373Leu Missense 9/28 - 1
7-55224338-G-A c.1119G>A p.Pro373Pro Synonymous 9/28 - 1
7-55224339-GTG-ATC c.1120_1122delinsATC p.Val374Ile Missense 9/28 - 2
7-55224342-GCA-ATG c.1123_1125delinsATG p.Ala375Met Missense 9/28 - 13
7-55224342-G-T c.1123G>T p.Ala375Ser Missense 9/28 - 1
7-55224342-GC-AG c.1123_1124delinsAG p.Ala375Arg Missense 9/28 - 5
7-55224342-G-C c.1123G>C p.Ala375Pro Missense 9/28 - 13
7-55224342-GC-TA c.1123_1124delinsTA p.Ala375* Nonsense 9/28 - 1
7-55224343-C-G c.1124C>G p.Ala375Gly Missense 9/28 - 1
7-55224345-TT-GC c.1126_1127delinsGC p.Phe376Ala Missense 9/28 - 1
7-55224348-AG-GC c.1129_1130delinsGC p.Arg377Ala Missense 9/28 - 1
7-55224350-G-C c.1131G>C p.Arg377Ser Missense 9/28 - 1
7-55224350-G-T c.1131G>T p.Arg377Ser Missense 9/28 - 1
7-55224352-G-C c.1133G>C p.Gly378Ala Missense 9/28 - 1
7-55224454-A-C c.1136A>C p.Asp379Ala Missense 10/28 - 1
7-55224456-T-G c.1138T>G p.Ser380Ala Missense 10/28 - 1
7-55224457-CC-AA c.1139_1140delinsAA p.Ser380* Nonsense 10/28 - 1
7-55224459-TT-GC c.1141_1142delinsGC p.Phe381Ala Missense 10/28 - 1
7-55224462-A-G c.1144A>G p.Thr382Ala Missense 10/28 - 2
7-55224465-CA-GC c.1147_1148delinsGC p.His383Ala Missense 10/28 - 1
7-55224468-A-G c.1150A>G p.Thr384Ala Missense 10/28 - 1
7-55224469-C-G c.1151C>G p.Thr384Ser Missense 10/28 - 1
7-55224468-A-T c.1150A>T p.Thr384Ser Missense 10/28 - 1
7-55224471-C-G c.1153C>G p.Pro385Ala Missense 10/28 - 1
7-55224472-C-G c.1154C>G p.Pro385Arg Missense 10/28 - 1
7-55224474-C-G c.1156C>G p.Pro386Ala Missense 10/28 - 1
7-55224477-C-A c.1159C>A p.Leu387Met Missense 10/28 - 5
7-55224477-CT-GC c.1159_1160delinsGC p.Leu387Ala Missense 10/28 - 1
7-55224477-CTG-AGGAGC c.1159_1161delinsAGGAGC p.Leu387delinsArgSer MultiAAMissense 10/28 - 1
7-55224477-CTG-TTT c.1159_1161delinsTTT p.Leu387Phe Missense 10/28 - 2
7-55224480-G-A c.1162G>A p.Asp388Asn Missense 10/28 - 2
7-55224481-A-C c.1163A>C p.Asp388Ala Missense 10/28 - 1
7-55224483-C-G c.1165C>G p.Pro389Ala Missense 10/28 - 1
7-55224486-CA-GC c.1168_1169delinsGC p.Gln390Ala Missense 10/28 - 1
7-55224490-A-C c.1172A>C p.Glu391Ala Missense 10/28 - 1
7-55224490-A-G c.1172A>G p.Glu391Gly Missense 10/28 - 1
7-55224492-CT-GC c.1174_1175delinsGC p.Leu392Ala Missense 10/28 - 1
7-55224496-A-C c.1178A>C p.Asp393Ala Missense 10/28 - 1
7-55224498-AT-GC c.1180_1181delinsGC p.Ile394Ala Missense 10/28 - 1
7-55224507-A-G c.1189A>G p.Thr397Ala Missense 10/28 - 1
7-55224511-T-A c.1193T>A p.Val398Glu Missense 10/28 - 1
7-55224522-A-G c.1204A>G p.Thr402Ala 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
7-55225364-C-A c.1216C>A p.Leu406Met Missense 11/28 - 1
7-55225365-T-A c.1217T>A p.Leu406Gln Missense 11/28 - 1
7-55225371-A-G c.1223A>G p.Gln408Arg Missense 11/28 - 1
7-55225372-G-T c.1224G>T p.Gln408His Missense 11/28 - 1
7-55225372-G-C c.1224G>C p.Gln408His Missense 11/28 - 1
7-55225379-C-T c.1231C>T p.Pro411Ser Missense 11/28 - 1
7-55225392-CG-AC c.1244_1245delinsAC p.Thr415Asn Missense 11/28 - 1
7-55225394-G-A c.1246G>A p.Asp416Asn Missense 11/28 - 2
7-55225397-C-G c.1249C>G p.Leu417Val Missense 11/28 - 1
7-55225405-C-G c.1257C>G p.Ala419Ala Synonymous 11/28 - 1
7-55225406-T-A c.1258T>A p.Phe420Ile Missense 11/28 - 1
7-55225409-G-A c.1261G>A p.Glu421Lys Missense 11/28 - 2
7-55225412-A-G c.1264A>G p.Asn422Asp Missense 11/28 - 1
7-55225421-A-C c.1273A>C p.Ile425Leu Missense 11/28 - 1
7-55225427-CG-GC c.1279_1280delinsGC p.Arg427Ala Missense 11/28 - 2
7-55225427-C-T c.1279C>T p.Arg427Cys Missense 11/28 - 2
7-55225428-G-A c.1280G>A p.Arg427His Missense 11/28 - 1
7-55225428-GC-AA c.1280_1281delinsAA p.Arg427Gln Missense 11/28 - 1
7-55225431-G-A c.1283G>A p.Gly428Asp Missense 11/28 - 3
7-55225433-AG-GA c.1285_1286delinsGA p.Arg429Glu Missense 11/28 - 1
7-55225435-G-C c.1287G>C p.Arg429Ser Missense 11/28 - 1
7-55225435-G-T c.1287G>T p.Arg429Ser Missense 11/28 - 1
7-55225444-A-C c.1296A>C p.Gln432His Missense 11/28 - 2
7-55225444-A-T c.1296A>T p.Gln432His Missense 11/28 - 2
7-55225445-CA-GC c.1297_1298delinsGC p.His433Ala Missense 11/28 - 2
7-55225446-A-T c.1298A>T p.His433Leu Missense 11/28 - 1
7-55227843-C-T c.1310C>T p.Ser437Phe Missense 12/28 - 1
7-55227850-A-G c.1317A>G p.Ala439Ala Synonymous 12/28 - 2
7-55227850-A-T c.1317A>T p.Ala439Ala Synonymous 12/28 - 1
7-55227850-A-C c.1317A>C p.Ala439Ala Synonymous 12/28 - 1
7-55227854-G-C c.1321G>C p.Val441Leu Missense 12/28 - 1
7-55227854-G-A c.1321G>A p.Val441Ile Missense 12/28 - 1
7-55227854-G-T c.1321G>T p.Val441Phe Missense 12/28 - 1
7-55227855-T-G c.1322T>G p.Val441Gly Missense 12/28 - 2
7-55227855-T-A c.1322T>A p.Val441Asp Missense 12/28 - 3
7-55227857-AG-GA c.1324_1325delinsGA p.Ser442Asp Missense 12/28 - 1
7-55227857-AG-TT c.1324_1325delinsTT p.Ser442Phe Missense 12/28 - 3
7-55227857-AG-CT c.1324_1325inv p.Ser442Leu Missense 12/28 - 1
7-55227858-GC-AG c.1325_1326delinsAG p.Ser442Lys Missense 12/28 - 1
7-55227861-T-A c.1328T>A p.Leu443Gln Missense 12/28 - 1
7-55227870-C-A c.1337C>A p.Thr446Lys Missense 12/28 - 2
7-55227873-C-A c.1340C>A p.Ser447Tyr Missense 12/28 - 1
7-55227879-G-T c.1346G>T p.Gly449Val Missense 12/28 - 1
7-55227884-C-T c.1351C>T p.Arg451Cys Missense 12/28 - 12
7-55227884-CG-TT c.1351_1352delinsTT p.Arg451Phe Missense 12/28 - 1
7-55227893-AA-GC c.1360_1361delinsGC p.Lys454Ala Missense 12/28 - 1
7-55227896-GA-TC c.1363_1364inv p.Glu455Ser Missense 12/28 - 1
7-55227899-A-G c.1366A>G p.Ile456Val Missense 12/28 - 1
7-55227902-AG-GC c.1369_1370delinsGC p.Ser457Ala Missense 12/28 - 1
7-55227905-G-A c.1372G>A p.Asp458Asn Missense 12/28 - 1
7-55227909-G-A c.1376G>A p.Gly459Glu Missense 12/28 - 1
7-55227914-G-T c.1381G>T p.Val461Leu Missense 12/28 - 1
7-55227914-G-C c.1381G>C p.Val461Leu Missense 12/28 - 1
7-55227914-GT-TC c.1381_1382delinsTC p.Val461Ser Missense 12/28 - 1
7-55227918-TA-GC c.1385_1386delinsGC p.Ile462Ser Missense 12/28 - 2
7-55227923-T-C c.1390T>C p.Ser464Pro Missense 12/28 - 1
7-55227924-C-T c.1391C>T p.Ser464Leu Missense 12/28 - 12
7-55227926-G-A c.1393G>A p.Gly465Arg Missense 12/28 - 21
7-55227926-G-C c.1393G>C p.Gly465Arg Missense 12/28 - 21
7-55227927-G-C c.1394G>C p.Gly465Ala Missense 12/28 - 3
7-55227927-G-A c.1394G>A p.Gly465Glu Missense 12/28 - 6
7-55227927-G-T c.1394G>T p.Gly465Val Missense 12/28 - 8
7-55227932-A-T c.1399A>T p.Lys467* Nonsense 12/28 - 1
7-55227933-A-C c.1400A>C p.Lys467Thr Missense 12/28 - 4
7-55227935-A-G c.1402A>G p.Asn468Asp Missense 12/28 - 1
7-55227939-T-C c.1406T>C p.Leu469Ser Missense 12/28 - 1
7-55227939-T-G c.1406T>G p.Leu469Trp Missense 12/28 - 1
7-55227945-A-T c.1412A>T p.Tyr471Phe Missense 12/28 - 1
7-55227948-C-G c.1415C>G p.Ala472Gly Missense 12/28 - 1
7-55227949-A-T c.1416A>T p.Ala472Ala Synonymous 12/28 - 1
7-55227950-AA-GC c.1417_1418delinsGC p.Asn473Ala Missense 12/28 - 1
7-55227952-T-A c.1419T>A p.Asn473Lys Missense 12/28 - 1
7-55227952-T-G c.1419T>G p.Asn473Lys Missense 12/28 - 1
7-55227953-ACA-GAC c.1420_1422delinsGAC p.Thr474Asp Missense 12/28 - 1
7-55227953-A-G c.1420A>G p.Thr474Ala Missense 12/28 - 2
7-55227954-C-T c.1421C>T p.Thr474Ile Missense 12/28 - 2
7-55227954-CA-TG c.1421_1422inv p.Thr474Met Missense 12/28 - 1
7-55227955-A-T c.1422A>T p.Thr474Thr Synonymous 12/28 - 1
7-55227955-A-G c.1422A>G p.Thr474Thr Synonymous 12/28 - 1
7-55227955-A-C c.1422A>C p.Thr474Thr Synonymous 12/28 - 1
7-55227959-A-G c.1426A>G p.Asn476Asp Missense 12/28 - 1
7-55227963-G-A c.1430G>A p.Trp477* Nonsense 12/28 - 1
7-55227965-AA-GC c.1432_1433delinsGC p.Lys478Ala Missense 12/28 - 1
7-55227971-CTG-GAC c.1438_1440delinsGAC p.Leu480Asp Missense 12/28 - 1
7-55227976-T-A c.1443T>A p.Phe481Leu Missense 12/28 - 1
7-55227976-T-G c.1443T>G p.Phe481Leu Missense 12/28 - 1
7-55227974-T-C c.1441T>C p.Phe481Leu Missense 12/28 - 1
7-55227977-G-A c.1444G>A p.Gly482Arg Missense 12/28 - 1
7-55227977-G-C c.1444G>C p.Gly482Arg Missense 12/28 - 1
7-55227978-GG-AC c.1445_1446delinsAC p.Gly482Asp Missense 12/28 - 1
7-55227978-G-A c.1445G>A p.Gly482Glu Missense 12/28 - 1
7-55227978-G-T c.1445G>T p.Gly482Val Missense 12/28 - 1
7-55227980-GACCTCCGGT-G c.1447_1455del p.Thr483_Gly485del InFrameDeletion 12/28 - 1
7-55227992-A-G c.1459A>G p.Lys487Glu Missense 12/28 - 1
7-55227995-A-G c.1462A>G p.Thr488Ala Missense 12/28 - 1
7-55227998-A-G c.1465A>G p.Lys489Glu Missense 12/28 - 1
7-55227998-AA-GC c.1465_1466delinsGC p.Lys489Ala Missense 12/28 - 1
7-55228001-A-G c.1468A>G p.Ile490Val Missense 12/28 - 1
7-55228005-T-A c.1472T>A p.Ile491Lys Missense 12/28 - 1
7-55228006-A-G c.1473A>G p.Ile491Met Missense 12/28 - 9
7-55228007-AG-GT c.1474_1475delinsGT p.Ser492Val Missense 12/28 - 1
7-55228007-A-C c.1474A>C p.Ser492Arg Missense 12/28 - 100
7-55228009-C-A c.1476C>A p.Ser492Arg Missense 12/28 - 100
7-55228010-A-G c.1477A>G p.Asn493Asp Missense 12/28 - 1
7-55228011-A-G c.1478A>G p.Asn493Ser Missense 12/28 - 1
7-55228022-AA-GC c.1489_1490delinsGC p.Asn497Ala Missense 12/28 - 1
7-55228028-TG-AC c.1495_1496delinsAC p.Cys499Thr Missense 12/28 - 2
7-55228029-G-A c.1496G>A p.Cys499Tyr Missense 12/28 - 2
7-55228053-A-T c.1498+22A>T - IntronicSNV - 12/27 7
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
7-55229015-A-G c.1499-177A>G - IntronicSNV - 12/27 2
7-55229194-G-A c.1501G>A p.Ala501Thr Missense 13/28 - 1
7-55229202-C-T c.1509C>T p.Gly503Gly Synonymous 13/28 - 1
7-55229203-C-A c.1510C>A p.Gln504Lys Missense 13/28 - 1
7-55229216-C-T c.1523C>T p.Ala508Val Missense 13/28 - 1
7-55229222-G-A c.1529G>A p.Cys510Tyr Missense 13/28 - 1
7-55229229-C-CT c.1536_1537insT p.Glu513* Nonsense 13/28 - 1
7-55229231-A-G c.1538A>G p.Glu513Gly Missense 13/28 - 1
7-55229231-A-C c.1538A>C p.Glu513Ala Missense 13/28 - 1
7-55229236-T-G c.1543T>G p.Cys515Gly Missense 13/28 - 1
7-55229243-G-C c.1550G>C p.Gly517Ala Missense 13/28 - 1
7-55229246-C-T c.1553C>T p.Pro518Leu Missense 13/28 - 1
7-55229254-AG-CT c.1561_1562inv p.Arg521Leu Missense 13/28 - 1
7-55229254-A-G c.1561A>G p.Arg521Gly Missense 13/28 - 1
7-55229255-G-C c.1562G>C p.Arg521Thr Missense 13/28 - 30
7-55229255-G-T c.1562G>T p.Arg521Met Missense 13/28 - 30
7-55229255-G-A c.1562G>A p.Arg521Lys Missense 13/28 - 78
7-55229263-G-A c.1570G>A p.Val524Ile Missense 13/28 - 1
7-55229263-CG-C c.1570del p.Val524Serfs*44 Frameshift 13/28 - 1
7-55229263-GT-AG c.1570_1571delinsAG p.Val524Ser Missense 13/28 - 1
7-55229267-C-T c.1574C>T p.Ser525Phe Missense 13/28 - 1
7-55229269-T-G c.1576T>G p.Cys526Gly Missense 13/28 - 1
7-55229271-C-G c.1578C>G p.Cys526Trp Missense 13/28 - 1
7-55229275-A-G c.1582A>G p.Asn528Asp Missense 13/28 - 1
7-55229276-AT-GG c.1583_1584delinsGG p.Asn528Arg Missense 13/28 - 1
7-55229281-AG-GC c.1588_1589delinsGC p.Ser530Ala Missense 13/28 - 1
7-55229290-AG-GC c.1597_1598delinsGC p.Arg533Ala Missense 13/28 - 4
7-55229296-TG-AC c.1603_1604delinsAC p.Cys535Thr Missense 13/28 - 1
7-55229299-G-A c.1606G>A p.Val536Met Missense 13/28 - 1
7-55229300-T-C c.1607T>C p.Val536Ala Missense 13/28 - 1
7-55229305-AA-GC c.1612_1613delinsGC p.Lys538Ala Missense 13/28 - 2
7-55229306-A-G c.1613A>G p.Lys538Arg Missense 13/28 - 1
7-55229307-G-T c.1614G>T p.Lys538Asn Missense 13/28 - 1
7-55229307-G-C c.1614G>C p.Lys538Asn Missense 13/28 - 1
7-55229320-G-T c.1627G>T p.Glu543* Nonsense 13/28 - 1
7-55229320-GAG-ATGAAG c.1627delinsATGA p.Glu543delinsMetLys MultiAAMissense 13/28 - 1
7-55229320-G-A c.1627G>A p.Glu543Lys Missense 13/28 - 1
7-55229321-GAGG-G c.1628_1630del p.Glu543del InFrameDeletion 13/28 - 1
7-55229321-A-G c.1628A>G p.Glu543Gly Missense 13/28 - 1
7-55229322-G-GTA c.1629_1630insTA p.Gly544* SpliceDonorInsertion 13/28 - 1
7-55229543-T-C c.1631+219T>C - IntronicSNV - 13/27 11
7-55230105-C-T c.1631+781C>T - IntronicSNV - 13/27 6
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.Gly544Gly Synonymous 14/28 - 1
7-55231427-G-C c.1633G>C p.Glu545Gln Missense 14/28 - 1
7-55231427-G-A c.1633G>A p.Glu545Lys Missense 14/28 - 33
7-55231428-A-C c.1634A>C p.Glu545Ala Missense 14/28 - 2
7-55231430-C-T c.1636C>T p.Pro546Ser Missense 14/28 - 2
7-55231430-C-A c.1636C>A p.Pro546Thr Missense 14/28 - 1
7-55231430-C-G c.1636C>G p.Pro546Ala Missense 14/28 - 1
7-55231431-C-T c.1637C>T p.Pro546Leu Missense 14/28 - 1
7-55231432-A-G c.1638A>G p.Pro546Pro Synonymous 14/28 - 1
7-55231433-AG-GC c.1639_1640delinsGC p.Arg547Ala Missense 14/28 - 1
7-55231436-GA-TC c.1642_1643inv p.Glu548Ser Missense 14/28 - 3
7-55231439-T-C c.1645T>C p.Phe549Leu Missense 14/28 - 2
7-55231441-T-G c.1647T>G p.Phe549Leu Missense 14/28 - 2
7-55231441-T-A c.1647T>A p.Phe549Leu Missense 14/28 - 2
7-55231440-T-C c.1646T>C p.Phe549Ser Missense 14/28 - 2
7-55231443-T-A c.1649T>A p.Val550Glu Missense 14/28 - 1
7-55231449-A-C c.1655A>C p.Asn552Thr Missense 14/28 - 1
7-55231452-C-T c.1658C>T p.Ser553Phe Missense 14/28 - 1
7-55231460-AT-GC c.1666_1667delinsGC p.Ile556Ala Missense 14/28 - 1
7-55231461-T-A c.1667T>A p.Ile556Lys Missense 14/28 - 2
7-55231466-TG-GC c.1672_1673delinsGC p.Cys558Ala Missense 14/28 - 1
7-55231467-TGCCACC-T c.1673_1678del p.Cys558_Pro560delinsSer MultiAAMissense 14/28 - 1
7-55231467-G-A c.1673G>A p.Cys558Tyr Missense 14/28 - 1
7-55231475-G-A c.1681G>A p.Glu561Lys Missense 14/28 - 1
7-55231482-T-C c.1688T>C p.Leu563Pro Missense 14/28 - 1
7-55231484-C-G c.1690C>G p.Pro564Ala Missense 14/28 - 1
7-55231495-G-C c.1701G>C p.Met567Ile Missense 14/28 - 1
7-55231495-G-T c.1701G>T p.Met567Ile Missense 14/28 - 1
7-55231495-G-A c.1701G>A p.Met567Ile Missense 14/28 - 1
7-55231509-C-G c.1715C>G p.Thr572Arg Missense 14/28 - 1
7-55231515-G-T c.1721G>T p.Arg574Leu Missense 14/28 - 1
7-55232246-T-C c.1723-727T>C - IntronicSNV - 14/27 2
7-55232333-A-G c.1723-640A>G - IntronicSNV - 14/27 3
7-55232991-CA-AC c.1741_1742delinsAC p.Gln581Thr Missense 15/28 - 1
7-55233001-A-G c.1751A>G p.His584Arg Missense 15/28 - 1
7-55233006-A-G c.1756A>G p.Ile586Val Missense 15/28 - 1
7-55233009-G-C c.1759G>C p.Asp587His Missense 15/28 - 1
7-55233016-C-T c.1766C>T p.Pro589Leu Missense 15/28 - 1
7-55233021-TG-AC c.1771_1772delinsAC p.Cys591Thr Missense 15/28 - 1
7-55233024-G-A c.1774G>A p.Val592Ile Missense 15/28 - 4
7-55233025-TC-AG c.1775_1776delinsAG p.Val592Glu Missense 15/28 - 2
7-55233025-T-C c.1775T>C p.Val592Ala Missense 15/28 - 3
7-55233028-A-G c.1778A>G p.Lys593Arg Missense 15/28 - 1
7-55233033-T-G c.1783T>G p.Cys595Gly Missense 15/28 - 1
7-55233037-C-T c.1787C>T p.Pro596Leu Missense 15/28 - 8
7-55233038-G-C c.1788G>C p.Pro596Pro Synonymous 15/28 - 2
7-55233038-G-A c.1788G>A p.Pro596Pro Synonymous 15/28 - 2
7-55233038-G-T c.1788G>T p.Pro596Pro Synonymous 15/28 - 2
7-55233039-G-C c.1789G>C p.Ala597Pro Missense 15/28 - 1
7-55233039-G-A c.1789G>A p.Ala597Thr Missense 15/28 - 1
7-55233042-G-T c.1792G>T p.Gly598* Nonsense 15/28 - 1
7-55233043-GA-AC c.1793_1794delinsAC p.Gly598Asp Missense 15/28 - 1
7-55233043-G-C c.1793G>C p.Gly598Ala Missense 15/28 - 1
7-55233043-G-T c.1793G>T p.Gly598Val Missense 15/28 - 38
7-55233045-GTC-ATG c.1795_1797delinsATG p.Val599Met Missense 15/28 - 2
7-55233046-T-A c.1796T>A p.Val599Asp Missense 15/28 - 3
7-55233046-TC-AG c.1796_1797delinsAG p.Val599Glu Missense 15/28 - 39
7-55233048-A-G c.1798A>G p.Met600Val Missense 15/28 - 1
7-55233048-A-T c.1798A>T p.Met600Leu Missense 15/28 - 1
7-55233049-T-A c.1799T>A p.Met600Lys Missense 15/28 - 4
7-55233049-T-C c.1799T>C p.Met600Thr Missense 15/28 - 3
7-55233051-GGA-AGC c.1801_1803delinsAGC p.Gly601Ser Missense 15/28 - 1
7-55233052-G-A c.1802G>A p.Gly601Glu Missense 15/28 - 1
7-55233054-GA-AC c.1804_1805delinsAC p.Glu602Thr Missense 15/28 - 1
7-55233064-C-A c.1814C>A p.Thr605Asn Missense 15/28 - 1
7-55233079-A-G c.1829A>G p.Tyr610Cys Missense 15/28 - 1
7-55233081-G-A c.1831G>A p.Ala611Thr Missense 15/28 - 2
7-55233087-G-A c.1837G>A p.Ala613Thr Missense 15/28 - 2
7-55233089-C-T c.1839C>T p.Ala613Ala Synonymous 15/28 - 1
7-55233089-C-A c.1839C>A p.Ala613Ala Synonymous 15/28 - 1
7-55233090-G-A c.1840G>A p.Gly614Ser Missense 15/28 - 1
7-55233103-A-C c.1853A>C p.His618Pro Missense 15/28 - 1
7-55233107-G-T c.1857G>T p.Leu619Leu Synonymous 15/28 - 1
7-55233107-G-C c.1857G>C p.Leu619Leu Synonymous 15/28 - 1
7-55233105-C-T c.1855C>T p.Leu619Leu Synonymous 15/28 - 1
7-55233107-G-A c.1857G>A p.Leu619Leu Synonymous 15/28 - 1
7-55233108-TG-GC c.1858_1859delinsGC p.Cys620Ala Missense 15/28 - 2
7-55233109-G-A c.1859G>A p.Cys620Tyr Missense 15/28 - 2
7-55233110-C-G c.1860C>G p.Cys620Trp Missense 15/28 - 1
7-55233121-G-C c.1871G>C p.Cys624Ser Missense 15/28 - 1
7-55233120-T-A c.1870T>A p.Cys624Ser Missense 15/28 - 1
7-55233120-TG-AC c.1870_1871delinsAC p.Cys624Thr Missense 15/28 - 1
7-55233120-TG-GC c.1870_1871delinsGC p.Cys624Ala Missense 15/28 - 2
7-55233121-G-T c.1871G>T p.Cys624Phe Missense 15/28 - 3
7-55233126-T-C c.1876T>C p.Tyr626His Missense 15/28 - 1
7-55233128-C-T c.1878C>T p.Tyr626Tyr Synonymous 15/28 - 1
7-55236020-T-C c.1881-2848T>C - IntronicSNV - 15/27 1
7-55237283-A-G c.1881-1585A>G - IntronicSNV - 15/27 1
7-55238087-C-T c.1881-781C>T - IntronicSNV - 15/27 1
7-55238268-G-T c.1881-600G>T - IntronicSNV - 15/27 6
7-55238268-G-C c.1881-600G>C - IntronicSNV - 15/27 6
7-55238268-G-A c.1881-600G>A - IntronicSNV - 15/27 6
7-55238464-T-A c.1881-404T>A - IntronicSNV - 15/27 2
7-55238464-T-G c.1881-404T>G - IntronicSNV - 15/27 2
7-55238870-G-A c.1883G>A p.Cys628Tyr Missense 16/28 - 1
7-55238870-G-T c.1883G>T p.Cys628Phe Missense 16/28 - 1
7-55238874-T-C c.1887T>C p.Thr629Thr Synonymous 16/28 - 1
7-55238874-T-A c.1887T>A p.Thr629Thr Synonymous 16/28 - 2
7-55238874-T-G c.1887T>G p.Thr629Thr Synonymous 16/28 - 2
7-55238879-C-G c.1892C>G p.Pro631Arg Missense 16/28 - 1
7-55238884-TCTT-T c.1897_1899del p.Leu633del InFrameDeletion 16/28 - 1
7-55238894-G-A c.1907G>A p.Cys636Tyr Missense 16/28 - 1
7-55238894-G-T c.1907G>T p.Cys636Phe Missense 16/28 - 1
7-55238899-A-C c.1912A>C p.Thr638Pro Missense 16/28 - 1
7-55239979-G-A c.1920-697G>A - IntronicSNV - 16/27 1
7-55240461-G-C c.1920-215G>C - IntronicSNV - 16/27 2
7-55240680-AA-GG c.1924_1925delinsGG p.Lys642Gly Missense 17/28 - 2
7-55240680-A-G c.1924A>G p.Lys642Glu Missense 17/28 - 4
7-55240681-A-G c.1925A>G p.Lys642Arg Missense 17/28 - 1
7-55240683-A-G c.1927A>G p.Ile643Val Missense 17/28 - 2
7-55240689-T-G c.1933T>G p.Ser645Ala Missense 17/28 - 1
7-55240690-C-G c.1934C>G p.Ser645Cys Missense 17/28 - 5
7-55240693-T-G c.1937T>G p.Ile646Ser Missense 17/28 - 1
7-55240699-C-T c.1943C>T p.Thr648Ile Missense 17/28 - 1
7-55240702-G-C c.1946G>C p.Gly649Ala Missense 17/28 - 1
7-55240707-G-T c.1951G>T p.Val651Leu Missense 17/28 - 1
7-55240707-G-A c.1951G>A p.Val651Met Missense 17/28 - 1
7-55240707-G-C c.1951G>C p.Val651Leu Missense 17/28 - 1
7-55240710-G-T c.1954G>T p.Gly652Trp Missense 17/28 - 1
7-55240711-GG-AC c.1955_1956delinsAC p.Gly652Asp Missense 17/28 - 1
7-55240717-T-G c.1961T>G p.Leu654Arg Missense 17/28 - 1
7-55240732-T-A c.1976T>A p.Val659Glu Missense 17/28 - 5
7-55240735-T-A c.1979T>A p.Val660Glu Missense 17/28 - 6
7-55240737-GC-TG c.1981_1982delinsTG p.Ala661Cys Missense 17/28 - 3
7-55240737-GC-AT c.1981_1982delinsAT p.Ala661Ile Missense 17/28 - 1
7-55240737-G-T c.1981G>T p.Ala661Ser Missense 17/28 - 1
7-55240744-G-A c.1988G>A p.Gly663Glu Missense 17/28 - 2
7-55240756-T-G c.2000T>G p.Phe667Cys Missense 17/28 - 1
7-55240761-C-T c.2005C>T p.Arg669* Nonsense 17/28 - 1
7-55240761-CGA-TGT c.2005_2007delinsTGT p.Arg669Cys Missense 17/28 - 1
7-55240762-G-A c.2006G>A p.Arg669Gln Missense 17/28 - 1
7-55240762-CG-C c.2006del p.Arg669Glnfs*36 Frameshift 17/28 - 1
7-55240764-A-T c.2008A>T p.Arg670Trp Missense 17/28 - 3
7-55240776-G-A c.2020G>A p.Val674Ile Missense 17/28 - 1
7-55240776-G-T c.2020G>T p.Val674Phe Missense 17/28 - 2
7-55240779-CG-GA c.2023_2024delinsGA p.Arg675Glu Missense 17/28 - 1
7-55240783-A-G c.2027A>G p.Lys676Arg Missense 17/28 - 1
7-55240785-C-T c.2029C>T p.Arg677Cys Missense 17/28 - 1
7-55240786-G-A c.2030G>A p.Arg677His Missense 17/28 - 2
7-55240789-C-T c.2033C>T p.Thr678Met Missense 17/28 - 1
7-55240791-CTG-TTT c.2035_2037delinsTTT p.Leu679Phe Missense 17/28 - 4
7-55240791-CT-GC c.2035_2036delinsGC p.Leu679Ala Missense 17/28 - 1
7-55240795-G-A c.2039G>A p.Arg680Gln Missense 17/28 - 1
7-55240809-GA-TC c.2053_2054inv p.Glu685Ser Missense 17/28 - 2
7-55240810-A-G c.2054A>G p.Glu685Gly Missense 17/28 - 3
7-55240816-A-C c.2060A>C p.Glu687Ala Missense 17/28 - 1
7-55241510-C-A c.2062-104C>A - IntronicSNV - 17/27 1
7-55241614-C-T c.2062C>T p.Leu688Phe Missense 18/28 - 3
7-55241615-T-C c.2063T>C p.Leu688Pro Missense 18/28 - 2
7-55241617-G-C c.2065G>C p.Val689Leu Missense 18/28 - 7
7-55241617-G-A c.2065G>A p.Val689Met Missense 18/28 - 9
7-55241617-G-T c.2065G>T p.Val689Leu Missense 18/28 - 7
7-55241619-G-C c.2067G>C p.Val689Val Synonymous 18/28 - 1
7-55241619-G-A c.2067G>A p.Val689Val Synonymous 18/28 - 1
7-55241619-G-T c.2067G>T p.Val689Val Synonymous 18/28 - 1
7-55241620-G-A c.2068G>A p.Glu690Lys Missense 18/28 - 3
7-55241623-C-A c.2071C>A p.Pro691Thr Missense 18/28 - 1
7-55241623-C-T c.2071C>T p.Pro691Ser Missense 18/28 - 3
7-55241626-C-T c.2074C>T p.Leu692Phe Missense 18/28 - 1
7-55241626-C-G c.2074C>G p.Leu692Val Missense 18/28 - 10
7-55241627-T-C c.2075T>C p.Leu692Pro Missense 18/28 - 5
7-55241629-A-G c.2077A>G p.Thr693Ala Missense 18/28 - 1
7-55241632-CCC-TAA c.2080_2082delinsTAA p.Pro694* Nonsense 18/28 - 1
7-55241632-C-T c.2080C>T p.Pro694Ser Missense 18/28 - 1
7-55241633-C-T c.2081C>T p.Pro694Leu Missense 18/28 - 3
7-55241635-A-G c.2083A>G p.Ser695Gly Missense 18/28 - 1
7-55241636-G-A c.2084G>A p.Ser695Asn Missense 18/28 - 1
7-55241637-T-A c.2085T>A p.Ser695Arg Missense 18/28 - 1
7-55241637-T-G c.2085T>G p.Ser695Arg Missense 18/28 - 1
7-55241635-A-C c.2083A>C p.Ser695Arg Missense 18/28 - 1
7-55241638-G-A c.2086G>A p.Gly696Arg Missense 18/28 - 2
7-55241638-G-C c.2086G>C p.Gly696Arg Missense 18/28 - 2
7-55241641-G-C c.2089G>C p.Glu697Gln Missense 18/28 - 1
7-55241644-G-A c.2092G>A p.Ala698Thr Missense 18/28 - 2
7-55241647-C-T c.2095C>T p.Pro699Ser Missense 18/28 - 4
7-55241647-CC-GG c.2095_2096inv p.Pro699Gly Missense 18/28 - 1
7-55241650-A-G c.2098A>G p.Asn700Asp Missense 18/28 - 6
7-55241651-A-G c.2099A>G p.Asn700Ser Missense 18/28 - 1
7-55241653-C-T c.2101C>T p.Gln701* Nonsense 18/28 - 1
7-55241653-CA-AC c.2101_2102delinsAC p.Gln701Thr Missense 18/28 - 1
7-55241654-A-T c.2102A>T p.Gln701Leu Missense 18/28 - 5
7-55241654-A-G c.2102A>G p.Gln701Arg Missense 18/28 - 2
7-55241656-G-T c.2104G>T p.Ala702Ser Missense 18/28 - 3
7-55241657-C-T c.2105C>T p.Ala702Val Missense 18/28 - 3
7-55241657-C-A c.2105C>A p.Ala702Asp Missense 18/28 - 2
7-55241659-C-T c.2107C>T p.Leu703Phe Missense 18/28 - 5
7-55241659-C-G c.2107C>G p.Leu703Val Missense 18/28 - 1
7-55241660-T-C c.2108T>C p.Leu703Pro Missense 18/28 - 3
7-55241662-TTG-AAC c.2110_2112delinsAAC p.Leu704Asn Missense 18/28 - 5
7-55241663-T-C c.2111T>C p.Leu704Ser Missense 18/28 - 1
7-55241665-A-G c.2113A>G p.Arg705Gly Missense 18/28 - 3
7-55241666-G-A c.2114G>A p.Arg705Lys Missense 18/28 - 3
7-55241668-ATC-CAA c.2116_2118delinsCAA p.Ile706Gln Missense 18/28 - 4
7-55241669-T-G c.2117T>G p.Ile706Ser Missense 18/28 - 1
7-55241669-T-C c.2117T>C p.Ile706Thr Missense 18/28 - 8
7-55241671-TT-AG c.2119_2120delinsAG p.Leu707Arg Missense 18/28 - 1
7-55241672-T-C c.2120T>C p.Leu707Ser Missense 18/28 - 3
7-55241672-T-G c.2120T>G p.Leu707Trp Missense 18/28 - 2
7-55241673-G-T c.2121G>T p.Leu707Phe Missense 18/28 - 1
7-55241673-G-C c.2121G>C p.Leu707Phe Missense 18/28 - 1
7-55241674-A-G c.2122A>G p.Lys708Glu Missense 18/28 - 1
7-55241675-A-T c.2123A>T p.Lys708Met Missense 18/28 - 3
7-55241675-A-G c.2123A>G p.Lys708Arg Missense 18/28 - 1
7-55241676-G-T c.2124G>T p.Lys708Asn Missense 18/28 - 3
7-55241677-GAA-ATG c.2125_2127delinsATG p.Glu709Met Missense 18/28 - 1
7-55241677-G-T c.2125G>T p.Glu709* Nonsense 18/28 - 29
7-55241677-G-C c.2125G>C p.Glu709Gln Missense 18/28 - 7
7-55241677-GAA-CAT c.2125_2127delinsCAT p.Glu709His Missense 18/28 - 6
7-55241677-G-A c.2125G>A p.Glu709Lys Missense 18/28 - 78
7-55241678-GAAA-G c.2126_2128del p.Glu709_Thr710delinsAla MultiAAMissense 18/28 - 1
7-55241678-A-C c.2126A>C p.Glu709Ala Missense 18/28 - 67
7-55241678-A-G c.2126A>G p.Glu709Gly Missense 18/28 - 29
7-55241678-A-T c.2126A>T p.Glu709Val Missense 18/28 - 17
7-55241679-AAAC-A c.2127_2129del p.Glu709_Thr710delinsAsp MultiAAMissense 18/28 - 5
7-55241679-A-T c.2127A>T p.Glu709Asp Missense 18/28 - 3
7-55241679-A-C c.2127A>C p.Glu709Asp Missense 18/28 - 6
7-55241680-AACT-A c.2128_2130del p.Thr710del InFrameDeletion 18/28 - 2
7-55241680-A-G c.2128A>G p.Thr710Ala Missense 18/28 - 1
7-55241681-C-T c.2129C>T p.Thr710Ile Missense 18/28 - 1
7-55241683-G-A c.2131G>A p.Glu711Lys Missense 18/28 - 4
7-55241684-A-T c.2132A>T p.Glu711Val Missense 18/28 - 2
7-55241684-A-C c.2132A>C p.Glu711Ala Missense 18/28 - 1
7-55241684-A-G c.2132A>G p.Glu711Gly Missense 18/28 - 1
7-55241686-TTC-CAA c.2134_2136delinsCAA p.Phe712Gln Missense 18/28 - 1
7-55241686-T-C c.2134T>C p.Phe712Leu Missense 18/28 - 2
7-55241688-C-A c.2136C>A p.Phe712Leu Missense 18/28 - 2
7-55241688-C-G c.2136C>G p.Phe712Leu Missense 18/28 - 2
7-55241687-T-C c.2135T>C p.Phe712Ser Missense 18/28 - 4
7-55241688-C-T c.2136C>T p.Phe712Phe Synonymous 18/28 - 1
7-55241689-AAA-CAT c.2137_2139delinsCAT p.Lys713His Missense 18/28 - 1
7-55241689-A-G c.2137A>G p.Lys713Glu Missense 18/28 - 2
7-55241692-A-G c.2140A>G p.Lys714Glu Missense 18/28 - 2
7-55241693-A-G c.2141A>G p.Lys714Arg Missense 18/28 - 1
7-55241694-G-C c.2142G>C p.Lys714Asn Missense 18/28 - 4
7-55241694-G-T c.2142G>T p.Lys714Asn Missense 18/28 - 4
7-55241695-A-T c.2143A>T p.Ile715Phe Missense 18/28 - 1
7-55241695-A-G c.2143A>G p.Ile715Val Missense 18/28 - 2
7-55241696-T-G c.2144T>G p.Ile715Ser Missense 18/28 - 3
7-55241698-A-G c.2146A>G p.Lys716Glu Missense 18/28 - 1
7-55241701-GTG-ATC c.2149_2151delinsATC p.Val717Ile Missense 18/28 - 3
7-55241701-GTG-TTT c.2149_2151delinsTTT p.Val717Phe Missense 18/28 - 1
7-55241702-T-G c.2150T>G p.Val717Gly Missense 18/28 - 1
7-55241702-T-C c.2150T>C p.Val717Ala Missense 18/28 - 2
7-55241704-CTG-AAC c.2152_2154delinsAAC p.Leu718Asn Missense 18/28 - 1
7-55241704-C-G c.2152C>G p.Leu718Val Missense 18/28 - 7
7-55241704-C-A c.2152C>A p.Leu718Met Missense 18/28 - 4
7-55241704-CT-TA c.2152_2153delinsTA p.Leu718* Nonsense 18/28 - 2
7-55241704-CT-GC c.2152_2153delinsGC p.Leu718Ala Missense 18/28 - 2
7-55241704-CTG-TTT c.2152_2154delinsTTT p.Leu718Phe Missense 18/28 - 1
7-55241705-T-C c.2153T>C p.Leu718Pro Missense 18/28 - 9
7-55241705-T-A c.2153T>A p.Leu718Gln Missense 18/28 - 64
7-55241705-T-G c.2153T>G p.Leu718Arg Missense 18/28 - 1
7-55241706-G-T c.2154G>T p.Leu718Leu Synonymous 18/28 - 1
7-55241706-G-C c.2154G>C p.Leu718Leu Synonymous 18/28 - 1
7-55241707-GGC-CAA c.2155_2157delinsCAA p.Gly719Gln Missense 18/28 - 1
7-55241707-GGG-G c.2155_2156del p.Gly719Leufs*9 Frameshift 18/28 - 1
7-55241707-GGC-TGA c.2155_2157delinsTGA p.Gly719* Nonsense 18/28 - 580
7-55241707-GG-AA c.2155_2156delinsAA p.Gly719Asn Missense 18/28 - 1
7-55241707-G-T c.2155G>T p.Gly719Cys Missense 18/28 - 246
7-55241707-G-C c.2155G>C p.Gly719Arg Missense 18/28 - 10
7-55241707-G-A c.2155G>A p.Gly719Ser Missense 18/28 - 412
7-55241707-GGC-ATG c.2155_2157delinsATG p.Gly719Met Missense 18/28 - 1
7-55241708-G-T c.2156G>T p.Gly719Val Missense 18/28 - 7
7-55241708-G-A c.2156G>A p.Gly719Asp Missense 18/28 - 46
7-55241708-G-C c.2156G>C p.Gly719Ala Missense 18/28 - 400
7-55241709-C-G c.2157C>G p.Gly719Gly Synonymous 18/28 - 1
7-55241709-C-T c.2157C>T p.Gly719Gly Synonymous 18/28 - 1
7-55241709-C-A c.2157C>A p.Gly719Gly Synonymous 18/28 - 1
7-55241710-T-A c.2158T>A p.Ser720Thr Missense 18/28 - 2
7-55241710-T-C c.2158T>C p.Ser720Pro Missense 18/28 - 9
7-55241711-C-T c.2159C>T p.Ser720Phe Missense 18/28 - 11
7-55241711-C-A c.2159C>A p.Ser720Tyr Missense 18/28 - 1
7-55241711-C-G c.2159C>G p.Ser720Cys Missense 18/28 - 1
7-55241713-G-T c.2161G>T p.Gly721Cys Missense 18/28 - 1
7-55241713-G-A c.2161G>A p.Gly721Ser Missense 18/28 - 5
7-55241713-G-C c.2161G>C p.Gly721Arg Missense 18/28 - 1
7-55241713-GGT-TGG c.2161_2163delinsTGG p.Gly721Trp Missense 18/28 - 1
7-55241714-G-C c.2162G>C p.Gly721Ala Missense 18/28 - 5
7-55241714-G-T c.2162G>T p.Gly721Val Missense 18/28 - 1
7-55241714-G-A c.2162G>A p.Gly721Asp Missense 18/28 - 3
7-55241716-G-A c.2164G>A p.Ala722Thr Missense 18/28 - 1
7-55241717-C-T c.2165C>T p.Ala722Val Missense 18/28 - 2
7-55241719-T-A c.2167T>A p.Phe723Ile Missense 18/28 - 2
7-55241719-T-C c.2167T>C p.Phe723Leu Missense 18/28 - 2
7-55241721-C-G c.2169C>G p.Phe723Leu Missense 18/28 - 2
7-55241721-C-A c.2169C>A p.Phe723Leu Missense 18/28 - 2
7-55241720-T-G c.2168T>G p.Phe723Cys Missense 18/28 - 1
7-55241722-G-A c.2170G>A p.Gly724Ser Missense 18/28 - 40
7-55241723-G-C c.2171G>C p.Gly724Ala Missense 18/28 - 1
7-55241723-G-A c.2171G>A p.Gly724Asp Missense 18/28 - 1
7-55241726-C-T c.2174C>T p.Thr725Met Missense 18/28 - 3
7-55241726-C-G c.2174C>G p.Thr725Arg Missense 18/28 - 1
7-55241727-G-A c.2175G>A p.Thr725Thr Synonymous 18/28 - 4
7-55241727-G-C c.2175G>C p.Thr725Thr Synonymous 18/28 - 4
7-55241727-G-T c.2175G>T p.Thr725Thr Synonymous 18/28 - 5
7-55241728-GTG-TTT c.2176_2178delinsTTT p.Val726Phe Missense 18/28 - 1
7-55241728-GT-AC c.2176_2177inv p.Val726Thr Missense 18/28 - 1
7-55241728-G-A c.2176G>A p.Val726Met Missense 18/28 - 3
7-55241728-G-T c.2176G>T p.Val726Leu Missense 18/28 - 2
7-55241728-GT-TA c.2176_2177delinsTA p.Val726* Nonsense 18/28 - 1
7-55241729-T-C c.2177T>C p.Val726Ala Missense 18/28 - 1
7-55241731-T-C c.2179T>C p.Tyr727His Missense 18/28 - 3
7-55241732-A-G c.2180A>G p.Tyr727Cys Missense 18/28 - 3
7-55241735-A-T c.2183A>T p.Lys728Met Missense 18/28 - 1
7-55241735-A-C c.2183A>C p.Lys728Thr Missense 18/28 - 1
7-55241735-A-G c.2183A>G p.Lys728Arg Missense 18/28 - 2
7-55241755-G-A c.2184+19G>A - IntronicSNV - 18/27 8
7-55241763-G-A c.2184+27G>A - IntronicSNV - 18/27 1
7-55241801-CC-C c.2184+65del - IntronicDeletion - 18/27 1
7-55241836-C-T c.2184+100C>T - IntronicSNV - 18/27 2
7-55242317-C-T c.2185-98C>T - IntronicSNV - 18/27 1
7-55242392-T-C c.2185-23T>C - IntronicSNV - 18/27 1
7-55242415-G-A c.2185G>A p.Gly729Arg Missense 19/28 - 4
7-55242416-G-A c.2186G>A p.Gly729Glu Missense 19/28 - 2
7-55242416-G-C c.2186G>C p.Gly729Ala Missense 19/28 - 1
7-55242418-C-G c.2188C>G p.Leu730Val Missense 19/28 - 1
7-55242418-C-T c.2188C>T p.Leu730Phe Missense 19/28 - 3
7-55242418-C-A c.2188C>A p.Leu730Ile Missense 19/28 - 1
7-55242419-T-G c.2189T>G p.Leu730Arg Missense 19/28 - 1
7-55242419-T-C c.2189T>C p.Leu730Pro Missense 19/28 - 2
7-55242421-T-C c.2191T>C p.Trp731Arg Missense 19/28 - 4
7-55242421-T-A c.2191T>A p.Trp731Arg Missense 19/28 - 4
7-55242422-G-A c.2192G>A p.Trp731* Nonsense 19/28 - 6
7-55242422-G-T c.2192G>T p.Trp731Leu Missense 19/28 - 1
7-55242424-A-G c.2194A>G p.Ile732Val Missense 19/28 - 1
7-55242425-T-C c.2195T>C p.Ile732Thr Missense 19/28 - 1
7-55242427-C-A c.2197C>A p.Pro733Thr Missense 19/28 - 4
7-55242427-C-T c.2197C>T p.Pro733Ser Missense 19/28 - 6
7-55242428-C-T c.2198C>T p.Pro733Leu Missense 19/28 - 10
7-55242429-A-G c.2199A>G p.Pro733Pro Synonymous 19/28 - 1
7-55242430-GA-AG c.2200_2201delinsAG p.Glu734Arg Missense 19/28 - 1
7-55242430-G-C c.2200G>C p.Glu734Gln Missense 19/28 - 1
7-55242430-G-A c.2200G>A p.Glu734Lys Missense 19/28 - 1
7-55242431-A-C c.2201A>C p.Glu734Ala Missense 19/28 - 1
7-55242432-A-G c.2202A>G p.Glu734Glu Synonymous 19/28 - 1
7-55242433-G-A c.2203G>A p.Gly735Ser Missense 19/28 - 12
7-55242434-G-A c.2204G>A p.Gly735Asp Missense 19/28 - 1
7-55242436-G-A c.2206G>A p.Glu736Lys Missense 19/28 - 1
7-55242437-A-T c.2207A>T p.Glu736Val Missense 19/28 - 1
7-55242440-A-G c.2210A>G p.Lys737Arg Missense 19/28 - 2
7-55242442-G-T c.2212G>T p.Val738Phe Missense 19/28 - 1
7-55242442-G-C c.2212G>C p.Val738Leu Missense 19/28 - 1
7-55242443-T-G c.2213T>G p.Val738Gly Missense 19/28 - 1
7-55242443-T-A c.2213T>A p.Val738Asp Missense 19/28 - 1
7-55242448-A-T c.2218A>T p.Ile740Phe Missense 19/28 - 1
7-55242449-T-C c.2219T>C p.Ile740Thr Missense 19/28 - 2
7-55242449-T-TCATCG c.2219_2220insCATCG p.Pro741Ilefs*9 Frameshift 19/28 - 1
7-55242451-C-A c.2221C>A p.Pro741Thr Missense 19/28 - 2
7-55242451-C-T c.2221C>T p.Pro741Ser Missense 19/28 - 4
7-55242452-C-G c.2222C>G p.Pro741Arg Missense 19/28 - 1
7-55242452-C-A c.2222C>A p.Pro741His Missense 19/28 - 2
7-55242452-C-T c.2222C>T p.Pro741Leu Missense 19/28 - 2
7-55242454-GTC-TAA c.2224_2226delinsTAA p.Val742* Nonsense 19/28 - 1
7-55242454-G-A c.2224G>A p.Val742Ile Missense 19/28 - 8
7-55242454-G-T c.2224G>T p.Val742Phe Missense 19/28 - 1
7-55242455-T-C c.2225T>C p.Val742Ala Missense 19/28 - 11
7-55242456-C-T c.2226C>T p.Val742Val Synonymous 19/28 - 1
7-55242456-C-A c.2226C>A p.Val742Val Synonymous 19/28 - 1
7-55242456-C-G c.2226C>G p.Val742Val Synonymous 19/28 - 1
7-55242457-G-A c.2227G>A p.Ala743Thr Missense 19/28 - 3
7-55242457-G-T c.2227G>T p.Ala743Ser Missense 19/28 - 2
7-55242458-C-T c.2228C>T p.Ala743Val Missense 19/28 - 3
7-55242460-A-G c.2230A>G p.Ile744Val Missense 19/28 - 4
7-55242460-A-T c.2230A>T p.Ile744Phe Missense 19/28 - 1
7-55242461-T-C c.2231T>C p.Ile744Thr Missense 19/28 - 1
7-55242462-C-G c.2232C>G p.Ile744Met Missense 19/28 - 8
7-55242462-TCAAGGAAT-T c.2232_2239del p.Glu746Argfs*14 Frameshift 19/28 - 2
7-55242463-AA-GC c.2233_2234delinsGC p.Lys745Ala Missense 19/28 - 3
7-55242463-A-G c.2233A>G p.Lys745Glu Missense 19/28 - 1
7-55242463-AAGGAA-ATCCCTGTAGCAATCAAG c.2234_2238delinsTCCCTGTAGCAATCAAG p.Lys745_Glu746delinsIleProValAlaIleLys MultiAAMissense 19/28 - 1
7-55242463-CAAGGAATTAAGAGAA-C c.2233_2247del p.Lys745_Glu749del InFrameDeletion 19/28 - 2
7-55242464-A-T c.2234A>T p.Lys745Met Missense 19/28 - 1
7-55242464-A-G c.2234A>G p.Lys745Arg Missense 19/28 - 9
7-55242464-AAGGAATTAAGAGAAGCAA-A c.2234_2251del p.Lys745_Ala750del InFrameDeletion 19/28 - 3
7-55242464-AAGGAATTAAGAGAAG-A c.2234_2248del p.Lys745_Ala750delinsThr MultiAAMissense 19/28 - 2
7-55242465-G-GATCCCTGTAGCAATCAAG c.2235_2236insATCCCTGTAGCAATCAAG p.Ile740_Lys745dup InFrameInsertion 19/28 - 7
7-55242465-AGG-A c.2235_2236del p.Glu746Ilefs*16 Frameshift 19/28 - 2
7-55242465-G-A c.2235G>A p.Lys745Lys Synonymous 19/28 - 1
7-55242465-AGGAATTAAGAGA-A c.2235_2246del p.Glu746_Glu749del InFrameDeletion 19/28 - 3
7-55242465-G-GACACCTGTAGCAATCAAG c.2235_2236insACACCTGTAGCAATCAAG p.Lys745_Glu746insThrProValAlaIleLys InFrameInsertion 19/28 - 1
7-55242465-AGGAATTAAGAGAAGCAAC-A c.2235_2252del p.Glu746_Thr751del InFrameDeletion 19/28 - 2
7-55242465-AGGA-A c.2235_2237del p.Glu746del InFrameDeletion 19/28 - 1
7-55242465-AGGAATTAAGAGAAGC-A c.2235_2249del p.Glu746_Ala750del InFrameDeletion 19/28 - 69
7-55242465-AGGAATTAAGAGAAGCAA-A c.2235_2251del p.Lys745Asnfs*12 Frameshift 19/28 - 2
7-55242466-GGAATTAAGAGAAGCAACATCTCCG-G c.2236_2259del p.Glu746_Pro753del InFrameDeletion 19/28 - 1
7-55242466-GGAATTAAGAGAAGCA-G c.2236_2250del p.Glu746_Ala750del InFrameDeletion 19/28 - 117
7-55242466-GGAATTAAGAGAAG-G c.2236_2248del p.Glu746Glnfs*16 Frameshift 19/28 - 2
7-55242466-GGAATTAAGAGAAGCAACAT-G c.2236_2254del p.Glu746Leufs*14 Frameshift 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAACA-G c.2236_2253del p.Glu746_Thr751del InFrameDeletion 19/28 - 5
7-55242466-G-A c.2236G>A p.Glu746Lys Missense 19/28 - 8
7-55242466-G-T c.2236G>T p.Glu746* Nonsense 19/28 - 1
7-55242466-GGAATTAAGAGAAGC-G c.2236_2249del p.Glu746Asnfs*12 Frameshift 19/28 - 2
7-55242466-GGAATTAAGAGAAGCAACATCT-G c.2236_2256del p.Glu746_Ser752del InFrameDeletion 19/28 - 9
7-55242466-GG-G c.2236del p.Glu746Asnfs*2 Frameshift 19/28 - 3
7-55242466-G-C c.2236G>C p.Glu746Gln Missense 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAACATC-G c.2236_2255del p.Glu746Serfs*10 Frameshift 19/28 - 1
7-55242466-GGAATTAAGAGAAGCAAC-G c.2236_2252del p.Glu746Ilefs*11 Frameshift 19/28 - 1
7-55242467-GAATTAAGAGAAGCAACAT-G c.2237_2254del p.Glu746_Ser752delinsAla MultiAAMissense 19/28 - 8
7-55242467-GAATTAAGAGAAGCAACATC-G c.2237_2255del p.Glu746Valfs*14 Frameshift 19/28 - 2
7-55242467-GAATTAAGAGAAGCAA-G c.2237_2251del p.Glu746_Thr751delinsAla MultiAAMissense 19/28 - 17
7-55242467-A-T c.2237A>T p.Glu746Val Missense 19/28 - 16
7-55242467-A-G c.2237A>G p.Glu746Gly Missense 19/28 - 3
7-55242467-A-C c.2237A>C p.Glu746Ala Missense 19/28 - 4
7-55242467-GAATTAAGAGAAGCAACATCTC-G c.2237_2257del p.Glu746_Pro753delinsAla MultiAAMissense 19/28 - 2
7-55242467-GAATTAAGAGAAGCAACA-G c.2237_2253del p.Glu746Valfs*11 Frameshift 19/28 - 4
7-55242468-AATTAAGAGAAGCAACATCT-A c.2238_2256del p.Glu746Aspfs*14 Frameshift 19/28 - 1
7-55242468-AATTAAGAGAAGCAACATCTCC-A c.2238_2258del p.Leu747_Pro753del InFrameDeletion 19/28 - 2
7-55242468-AATTAAGAGAAGCAACATC-A c.2238_2255del p.Glu746_Ser752delinsAsp MultiAAMissense 19/28 - 3
7-55242468-AATTAAGAGAA-A c.2238_2247del p.Leu747Glnfs*16 Frameshift 19/28 - 1
7-55242468-AATTAAGA-A c.2238_2244del p.Leu747Lysfs*17 Frameshift 19/28 - 1
7-55242468-A-AATC c.2238_2239insATC p.Glu746_Leu747insIle InFrameInsertion 19/28 - 1
7-55242469-TT-AG c.2239_2240delinsAG p.Leu747Arg Missense 19/28 - 1
7-55242471-A-G c.2241A>G p.Leu747Leu Synonymous 19/28 - 2
7-55242469-ATTAAGAGAAGCA-A c.2239_2250del p.Leu747_Ala750del InFrameDeletion 19/28 - 5
7-55242469-ATTA-A c.2239_2241del p.Leu747del InFrameDeletion 19/28 - 1
7-55242469-ATTAAGAGAAGCAA-A c.2239_2251del p.Leu747Hisfs*15 Frameshift 19/28 - 1
7-55242469-T-C c.2239T>C p.Leu747Leu Synonymous 19/28 - 2
7-55242469-TT-CC c.2239_2240delinsCC p.Leu747Pro Missense 19/28 - 36
7-55242469-ATTAAGAGAA-A c.2239_2247del p.Leu747_Glu749del InFrameDeletion 19/28 - 20
7-55242469-ATTAAGAGAAG-A c.2239_2248del p.Leu747Glnfs*16 Frameshift 19/28 - 7
7-55242469-ATTAAGAGAAGCAACATCT-A c.2239_2256del p.Leu747_Ser752del InFrameDeletion 19/28 - 22
7-55242469-ATTAAGAGAAGCAACATCTCCGAAAGC-A c.2239_2264del p.Leu747Glnfs*7 Frameshift 19/28 - 2
7-55242469-T-G c.2239T>G p.Leu747Val Missense 19/28 - 3
7-55242469-ATTAAGAGAAGCAACATCTCCGAAA-A c.2239_2262del p.Leu747_Lys754del InFrameDeletion 19/28 - 3
7-55242470-T-A c.2240T>A p.Leu747* Nonsense 19/28 - 1
7-55242470-TTAAGAGAAGCAAC-T c.2240_2252del p.Leu747Tyrfs*15 Frameshift 19/28 - 1
7-55242470-TTAAGAGAAG-T c.2240_2248del p.Leu747_Ala750delinsSer MultiAAMissense 19/28 - 1
7-55242470-T-C c.2240T>C p.Leu747Ser Missense 19/28 - 142
7-55242470-T-G c.2240T>G p.Leu747* Nonsense 19/28 - 1
7-55242470-TTAAGAGAAGCAA-T c.2240_2251del p.Leu747_Thr751delinsSer MultiAAMissense 19/28 - 3
7-55242470-TTAAGAGAAGCAACAT-T c.2240_2254del p.Leu747_Thr751del InFrameDeletion 19/28 - 46
7-55242470-TTAAGAGAAGCAACATCTC-T c.2240_2257del p.Leu747_Pro753delinsSer MultiAAMissense 19/28 - 38
7-55242471-A-C c.2241A>C p.Leu747Phe Missense 19/28 - 3
7-55242471-A-T c.2241A>T p.Leu747Phe Missense 19/28 - 3
7-55242471-TAAGAGAAG-T c.2241_2248del p.Leu747Phefs*13 Frameshift 19/28 - 1
7-55242472-AGA-TGG c.2242_2244delinsTGG p.Arg748Trp Missense 19/28 - 1
7-55242472-A-G c.2242A>G p.Arg748Gly Missense 19/28 - 1
7-55242472-AG-GA c.2242_2243delinsGA p.Arg748Glu Missense 19/28 - 1
7-55242472-AAGAGAAGCAACA-A c.2242_2253del p.Arg748_Thr751del InFrameDeletion 19/28 - 2
7-55242472-AAGA-A c.2242_2244del p.Arg748del InFrameDeletion 19/28 - 6
7-55242473-AGAGAAGCAA-A c.2243_2251del p.Arg748_Ala750del InFrameDeletion 19/28 - 1
7-55242473-G-T c.2243G>T p.Arg748Ile Missense 19/28 - 1
7-55242473-G-A c.2243G>A p.Arg748Lys Missense 19/28 - 3
7-55242472-A-C c.2242A>C p.Arg748Arg Synonymous 19/28 - 1
7-55242474-A-G c.2244A>G p.Arg748Arg Synonymous 19/28 - 1
7-55242475-AGAAGCAA-A c.2245_2251del p.Glu749Hisfs*15 Frameshift 19/28 - 2
7-55242475-GA-AT c.2245_2246delinsAT p.Glu749Ile Missense 19/28 - 1
7-55242475-G-C c.2245G>C p.Glu749Gln Missense 19/28 - 3
7-55242475-G-A c.2245G>A p.Glu749Lys Missense 19/28 - 4
7-55242475-G-T c.2245G>T p.Glu749* Nonsense 19/28 - 2
7-55242476-GAAG-G c.2246_2248del p.Glu749del InFrameDeletion 19/28 - 52
7-55242476-A-G c.2246A>G p.Glu749Gly Missense 19/28 - 1
7-55242476-A-T c.2246A>T p.Glu749Val Missense 19/28 - 1
7-55242477-AAGCAACATC-A c.2247_2255del p.Glu749_Ser752delinsAsp MultiAAMissense 19/28 - 1
7-55242478-GCA-GTACCT c.2249_2250delinsTACCT p.Ala750delinsValPro MultiAAMissense 19/28 - 1
7-55242478-GCA-CAACCT c.2248_2250delinsCAACCT p.Ala750delinsGlnPro MultiAAMissense 19/28 - 1
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAAATC-A c.2248_2277del p.Ala750_Ile759del InFrameDeletion 19/28 - 1
7-55242478-AGCAACATCTCCGAAAGCCAACAAGGAA-A c.2248_2274del p.Ala750_Glu758del InFrameDeletion 19/28 - 1
7-55242478-GCA-ATCCCT c.2248_2250delinsATCCCT p.Ala750delinsIlePro MultiAAMissense 19/28 - 1
7-55242478-G-C c.2248G>C p.Ala750Pro Missense 19/28 - 77
7-55242478-G-A c.2248G>A p.Ala750Thr Missense 19/28 - 1
7-55242478-AGCA-A c.2248_2250del p.Ala750del InFrameDeletion 19/28 - 260
7-55242478-GC-AA c.2248_2249delinsAA p.Ala750Lys Missense 19/28 - 1
7-55242479-C-T c.2249C>T p.Ala750Val Missense 19/28 - 1
7-55242479-C-A c.2249C>A p.Ala750Glu Missense 19/28 - 4
7-55242480-A-G c.2250A>G p.Ala750Ala Synonymous 19/28 - 1
7-55242480-CAA-C c.2250_2251del p.Thr751Ilefs*11 Frameshift 19/28 - 1
7-55242481-AACATCTCCGAAA-A c.2251_2262del p.Thr751_Lys754del InFrameDeletion 19/28 - 1
7-55242481-ACA-ATCCCT c.2252_2253delinsTCCCT p.Thr751delinsIlePro MultiAAMissense 19/28 - 1
7-55242481-AC-GG c.2251_2252delinsGG p.Thr751Gly Missense 19/28 - 1
7-55242481-A-C c.2251A>C p.Thr751Pro Missense 19/28 - 9
7-55242481-A-G c.2251A>G p.Thr751Ala Missense 19/28 - 9
7-55242481-A-T c.2251A>T p.Thr751Ser Missense 19/28 - 3
7-55242481-ACA-GTAGCA c.2251delinsGTAG p.Thr751delinsValAla MultiAAMissense 19/28 - 1
7-55242481-AACA-A c.2251_2253del p.Thr751del InFrameDeletion 19/28 - 62
7-55242481-AACATCTCCGAAAGCCAACAAGGAAATC-A c.2251_2277del p.Thr751_Ile759del InFrameDeletion 19/28 - 4
7-55242482-C-G c.2252C>G p.Thr751Arg Missense 19/28 - 1
7-55242482-C-T c.2252C>T p.Thr751Ile Missense 19/28 - 17
7-55242482-CA-AC c.2252_2253delinsAC p.Thr751Asn Missense 19/28 - 1
7-55242483-CATCTCCGAAAGCCAACAAGGAAATC-C c.2253_2277del p.Pro753Metfs*5 Frameshift 19/28 - 1
7-55242483-CATCTCCGAAAGCCAACAAGGAAAT-C c.2253_2276del p.Ser752_Ile759del InFrameDeletion 19/28 - 9
7-55242483-CATCTCCGAAAGCCAACAAGGAAA-C c.2253_2275del p.Ser752Profs*3 Frameshift 19/28 - 1
7-55242484-T-C c.2254T>C p.Ser752Pro Missense 19/28 - 1
7-55242484-TC-AT c.2254_2255delinsAT p.Ser752Ile Missense 19/28 - 14
7-55242484-ATCTCCGAA-A c.2254_2261del p.Pro753Glnfs*7 Frameshift 19/28 - 2
7-55242484-TCT-ATCGTA c.2254_2256delinsATCGTA p.Ser752delinsIleVal MultiAAMissense 19/28 - 1
7-55242484-ATCT-A c.2254_2256del p.Ser752del InFrameDeletion 19/28 - 49
7-55242484-TC-GT c.2254_2255delinsGT p.Ser752Val Missense 19/28 - 2
7-55242484-TC-GA c.2254_2255inv p.Ser752Asp Missense 19/28 - 6
7-55242484-ATCTCCGAAAGCCAACAAGGAAATC-A c.2254_2277del p.Ser752_Ile759del InFrameDeletion 19/28 - 12
7-55242485-TC-T c.2255del p.Ser752Phefs*14 Frameshift 19/28 - 1
7-55242485-C-T c.2255C>T p.Ser752Phe Missense 19/28 - 5
7-55242485-C-A c.2255C>A p.Ser752Tyr Missense 19/28 - 3
7-55242486-CT-C c.2256del p.Pro753Argfs*13 Frameshift 19/28 - 1
7-55242487-CC-GA c.2257_2258delinsGA p.Pro753Glu Missense 19/28 - 1
7-55242487-TCCG-T c.2257_2259del p.Pro753del InFrameDeletion 19/28 - 12
7-55242487-C-A c.2257C>A p.Pro753Thr Missense 19/28 - 1
7-55242487-C-T c.2257C>T p.Pro753Ser Missense 19/28 - 40
7-55242487-CCG-TTT c.2257_2259delinsTTT p.Pro753Phe Missense 19/28 - 1
7-55242487-CCG-GTAAGC c.2257_2259delinsGTAAGC p.Pro753delinsValSer MultiAAMissense 19/28 - 1
7-55242488-CC-C c.2258del p.Pro753Argfs*13 Frameshift 19/28 - 3
7-55242488-C-T c.2258C>T p.Pro753Leu Missense 19/28 - 7
7-55242488-C-A c.2258C>A p.Pro753Gln Missense 19/28 - 3
7-55242489-G-A c.2259G>A p.Pro753Pro Synonymous 19/28 - 2
7-55242489-G-GT c.2259_2260insT p.Lys754* Nonsense 19/28 - 1
7-55242490-GAAA-G c.2260_2262del p.Lys754del InFrameDeletion 19/28 - 4
7-55242490-A-G c.2260A>G p.Lys754Glu Missense 19/28 - 9
7-55242490-A-C c.2260A>C p.Lys754Gln Missense 19/28 - 2
7-55242491-A-T c.2261A>T p.Lys754Ile Missense 19/28 - 3
7-55242491-A-G c.2261A>G p.Lys754Arg Missense 19/28 - 1
7-55242491-A-C c.2261A>C p.Lys754Thr Missense 19/28 - 1
7-55242492-A-G c.2262A>G p.Lys754Lys Synonymous 19/28 - 2
7-55242492-A-C c.2262A>C p.Lys754Asn Missense 19/28 - 2
7-55242492-A-T c.2262A>T p.Lys754Asn Missense 19/28 - 2
7-55242493-G-A c.2263G>A p.Ala755Thr Missense 19/28 - 2
7-55242493-GCC-AGCAAGGGT c.2263_2265delinsAGCAAGGGT p.Ala755delinsSerLysGly MultiAAMissense 19/28 - 1
7-55242494-C-G c.2264C>G p.Ala755Gly Missense 19/28 - 4
7-55242494-C-T c.2264C>T p.Ala755Val Missense 19/28 - 3
7-55242494-C-A c.2264C>A p.Ala755Asp Missense 19/28 - 5
7-55242496-A-C c.2266A>C p.Asn756His Missense 19/28 - 1
7-55242496-A-G c.2266A>G p.Asn756Asp Missense 19/28 - 2
7-55242496-A-T c.2266A>T p.Asn756Tyr Missense 19/28 - 1
7-55242497-A-G c.2267A>G p.Asn756Ser Missense 19/28 - 2
7-55242499-CAAG-C c.2269_2271del p.Lys757del InFrameDeletion 19/28 - 1
7-55242499-A-G c.2269A>G p.Lys757Glu Missense 19/28 - 4
7-55242500-A-G c.2270A>G p.Lys757Arg Missense 19/28 - 8
7-55242500-A-C c.2270A>C p.Lys757Thr Missense 19/28 - 1
7-55242500-A-T c.2270A>T p.Lys757Met Missense 19/28 - 2
7-55242501-G-T c.2271G>T p.Lys757Asn Missense 19/28 - 3
7-55242501-G-A c.2271G>A p.Lys757Lys Synonymous 19/28 - 1
7-55242502-GGAA-G c.2272_2274del p.Glu758del InFrameDeletion 19/28 - 4
7-55242502-G-A c.2272G>A p.Glu758Lys Missense 19/28 - 3
7-55242503-A-G c.2273A>G p.Glu758Gly Missense 19/28 - 3
7-55242504-A-T c.2274A>T p.Glu758Asp Missense 19/28 - 1
7-55242504-A-G c.2274A>G p.Glu758Glu Synonymous 19/28 - 1
7-55242504-A-C c.2274A>C p.Glu758Asp Missense 19/28 - 1
7-55242505-ATC-GGTGAGGGT c.2275_2277delinsGGTGAGGGT p.Ile759delinsGlyGluGly MultiAAMissense 19/28 - 1
7-55242505-AATC-A c.2275_2277del p.Ile759del InFrameDeletion 19/28 - 21
7-55242505-AT-GC c.2275_2276delinsGC p.Ile759Ala Missense 19/28 - 2
7-55242505-ATC-GCAACAGCA c.2275_2277delinsGCAACAGCA p.Ile759delinsAlaThrAla MultiAAMissense 19/28 - 1
7-55242505-A-G c.2275A>G p.Ile759Val Missense 19/28 - 1
7-55242506-T-C c.2276T>C p.Ile759Thr Missense 19/28 - 1
7-55242507-C-T c.2277C>T p.Ile759Ile Synonymous 19/28 - 1
7-55242507-C-A c.2277C>A p.Ile759Ile Synonymous 19/28 - 1
7-55242507-C-G c.2277C>G p.Ile759Met Missense 19/28 - 2
7-55242508-C-T c.2278C>T p.Leu760Phe Missense 19/28 - 1
7-55242509-T-C c.2279T>C p.Leu760Pro Missense 19/28 - 3
7-55242509-T-G c.2279T>G p.Leu760Arg Missense 19/28 - 3
7-55242510-C-A c.2280C>A p.Leu760Leu Synonymous 19/28 - 1
7-55242510-C-T c.2280C>T p.Leu760Leu Synonymous 19/28 - 1
7-55242510-C-G c.2280C>G p.Leu760Leu Synonymous 19/28 - 1
7-55242511-G-C c.2281G>C p.Asp761His Missense 19/28 - 2
7-55242511-G-A c.2281G>A p.Asp761Asn Missense 19/28 - 13
7-55242511-G-T c.2281G>T p.Asp761Tyr Missense 19/28 - 169
7-55242511-GAT-CAA c.2281_2283delinsCAA p.Asp761Gln Missense 19/28 - 1
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 6
7-55242616-C-T c.2283+103C>T - IntronicSNV - 19/27 1
7-55243754-A-G c.2283+1241A>G - IntronicSNV - 19/27 3
7-55245364-G-C c.2283+2851G>C - IntronicSNV - 19/27 5
7-55245507-A-G c.2283+2994A>G - IntronicSNV - 19/27 8
7-55245647-T-C c.2283+3134T>C - IntronicSNV - 19/27 4
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-T c.2284-1652C>T - IntronicSNV - 19/27 1
7-55247334-C-G c.2284-1652C>G - IntronicSNV - 19/27 1
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 6
7-55248965-C-T c.2284-21C>T - IntronicSNV - 19/27 1
7-55248986-G-A c.2284G>A p.Glu762Lys Missense 20/28 - 3
7-55248987-A-G c.2285A>G p.Glu762Gly Missense 20/28 - 3
7-55248988-A-G c.2286A>G p.Glu762Glu Synonymous 20/28 - 1
7-55248989-G-A c.2287G>A p.Ala763Thr Missense 20/28 - 2
7-55248990-C-T c.2288C>T p.Ala763Val Missense 20/28 - 2
7-55248991-C-T c.2289C>T p.Ala763Ala Synonymous 20/28 - 1
7-55248992-T-G c.2290T>G p.Tyr764Asp Missense 20/28 - 1
7-55248992-T-TTTCAAGAGGCAT c.2290_2291insTTCAAGAGGCAT p.Ala763_Tyr764insPheGlnGluAla InFrameInsertion 20/28 - 3
7-55248994-C-T c.2292C>T p.Tyr764Tyr Synonymous 20/28 - 1
7-55248995-G-C c.2293G>C p.Val765Leu Missense 20/28 - 1
7-55248995-G-T c.2293G>T p.Val765Leu Missense 20/28 - 1
7-55248995-G-A c.2293G>A p.Val765Met Missense 20/28 - 6
7-55248996-T-G c.2294T>G p.Val765Gly Missense 20/28 - 2
7-55248996-T-C c.2294T>C p.Val765Ala Missense 20/28 - 15
7-55248998-A-G c.2296A>G p.Met766Val Missense 20/28 - 1
7-55248998-ATG-TTT c.2296_2298delinsTTT p.Met766Phe Missense 20/28 - 3
7-55248998-A-C c.2296A>C p.Met766Leu Missense 20/28 - 1
7-55248998-A-T c.2296A>T p.Met766Leu Missense 20/28 - 1
7-55248998-AT-GC c.2296_2297delinsGC p.Met766Ala Missense 20/28 - 1
7-55248999-T-C c.2297T>C p.Met766Thr Missense 20/28 - 5
7-55249000-G-T c.2298G>T p.Met766Ile Missense 20/28 - 1
7-55249000-G-C c.2298G>C p.Met766Ile Missense 20/28 - 1
7-55249000-G-A c.2298G>A p.Met766Ile Missense 20/28 - 1
7-55249001-GGCC-G c.2299_2301del p.Ala767del InFrameDeletion 20/28 - 1
7-55249001-G-T c.2299G>T p.Ala767Ser Missense 20/28 - 1
7-55249001-G-A c.2299G>A p.Ala767Thr Missense 20/28 - 3
7-55249002-GCCAGCGTGG-G c.2300_2308del p.Ala767_Val769del InFrameDeletion 20/28 - 1
7-55249002-C-T c.2300C>T p.Ala767Val Missense 20/28 - 6
7-55249003-C-G c.2301C>G p.Ala767Ala Synonymous 20/28 - 1
7-55249003-C-T c.2301C>T p.Ala767Ala Synonymous 20/28 - 1
7-55249003-C-A c.2301C>A p.Ala767Ala Synonymous 20/28 - 1
7-55249004-AGCGTG-ATCCTT c.2303_2307delinsTCCTT p.Ser768_Val769delinsIleLeu MultiAAMissense 20/28 - 1
7-55249004-AGC-GAG c.2302_2304delinsGAG p.Ser768Glu Missense 20/28 - 1
7-55249004-A-ACACTTGCAA c.2302_2303insCACTTGCAA p.Ala767_Ser768insThrLeuAla InFrameInsertion 20/28 - 1
7-55249004-AG-TT c.2302_2303delinsTT p.Ser768Phe Missense 20/28 - 1
7-55249004-AG-GT c.2302_2303delinsGT p.Ser768Val Missense 20/28 - 1
7-55249004-AG-GA c.2302_2303delinsGA p.Ser768Asp Missense 20/28 - 1
7-55249004-A-T c.2302A>T p.Ser768Cys Missense 20/28 - 4
7-55249004-AG-GC c.2302_2303delinsGC p.Ser768Ala Missense 20/28 - 1
7-55249004-AG-CT c.2302_2303inv p.Ser768Leu Missense 20/28 - 3
7-55249004-A-G c.2302A>G p.Ser768Gly Missense 20/28 - 2
7-55249004-AGC-TGA c.2302_2304delinsTGA p.Ser768* Nonsense 20/28 - 3
7-55249004-AGC-ATCCTT c.2303_2304delinsTCCTT p.Ser768delinsIleLeu MultiAAMissense 20/28 - 1
7-55249005-G-A c.2303G>A p.Ser768Asn Missense 20/28 - 7
7-55249005-G-T c.2303G>T p.Ser768Ile Missense 20/28 - 526
7-55249005-GC-TT c.2303_2304delinsTT p.Ser768Ile Missense 20/28 - 1
7-55249006-C-CTTGGCCAGC c.2304_2305insTTGGCCAGC p.Ser768_Val769insLeuAlaSer InFrameInsertion 20/28 - 1
7-55249006-C-A c.2304C>A p.Ser768Arg Missense 20/28 - 5
7-55249006-C-G c.2304C>G p.Ser768Arg Missense 20/28 - 5
7-55249004-A-C c.2302A>C p.Ser768Arg Missense 20/28 - 5
7-55249007-G-A c.2305G>A p.Val769Met Missense 20/28 - 17
7-55249007-G-C c.2305G>C p.Val769Leu Missense 20/28 - 26
7-55249007-G-T c.2305G>T p.Val769Leu Missense 20/28 - 26
7-55249007-GTG-ATC c.2305_2307delinsATC p.Val769Ile Missense 20/28 - 1
7-55249008-T-C c.2306T>C p.Val769Ala Missense 20/28 - 1
7-55249009-G-A c.2307G>A p.Val769Val Synonymous 20/28 - 1
7-55249009-G-C c.2307G>C p.Val769Val Synonymous 20/28 - 1
7-55249009-G-T c.2307G>T p.Val769Val Synonymous 20/28 - 1
7-55249009-G-GTGT c.2307_2308insTGT p.Val769_Asp770insCys InFrameInsertion 20/28 - 1
7-55249009-G-GT c.2307_2308insT p.Asp770* Nonsense 20/28 - 1
7-55249010-GAC-GGTATC c.2309delinsGTAT p.Asp770delinsGlyIle MultiAAMissense 20/28 - 2
7-55249010-G-GTAG c.2308_2309insTAG p.Val769dup InFrameInsertion 20/28 - 1
7-55249010-G-GGTCAAAGGG c.2308_2309insGTCAAAGGG p.Val769_Asp770insGlyGlnArg InFrameInsertion 20/28 - 1
7-55249010-G-T c.2308G>T p.Asp770Tyr Missense 20/28 - 1
7-55249010-G-GGCACGG c.2308_2309insGCACGG p.Val769_Asp770insGlyThr InFrameInsertion 20/28 - 1
7-55249010-GAC-GTAGGT c.2309_2310delinsTAGGT p.Asp770delinsValGly MultiAAMissense 20/28 - 1
7-55249010-G-GTAGGTGTAG c.2308_2309insTAGGTGTAG p.Val769_Asp770insValGlyVal InFrameInsertion 20/28 - 1
7-55249010-G-A c.2308G>A p.Asp770Asn Missense 20/28 - 4
7-55249010-GAC-GGTTAT c.2309_2310delinsGTTAT p.Asp770delinsGlyTyr MultiAAMissense 20/28 - 9
7-55249011-AC-CCAGCGTGGAT c.2309_2310delinsCCAGCGTGGAT p.Ala767_Val769dup InFrameInsertion 20/28 - 1
7-55249011-A-G c.2309A>G p.Asp770Gly Missense 20/28 - 3
7-55249011-A-C c.2309A>C p.Asp770Ala Missense 20/28 - 2
7-55249012-C-CCAGCGTGGC c.2310_2311insCAGCGTGGC p.Asp770_Asn771insGlnArgGly InFrameInsertion 20/28 - 1
7-55249012-C-CGCATGGACA c.2310_2311insGCATGGACA p.Asp770_Asn771insAlaTrpThr InFrameInsertion 20/28 - 1
7-55249012-C-CGGG c.2310_2311insGGG p.Asp770_Asn771insGly InFrameInsertion 20/28 - 1
7-55249012-C-CGGTAGCGTAGAC c.2310_2311insGGTAGCGTAGAC p.Asp770_Asn771insGlySerValAsp InFrameInsertion 20/28 - 1
7-55249012-C-CGGTGAC c.2310_2311insGGTGAC p.Asp770_Asn771insGlyAsp InFrameInsertion 20/28 - 1
7-55249012-C-CCAC c.2310_2311insCAC p.Asp770_Asn771insHis InFrameInsertion 20/28 - 1
7-55249012-C-CGGGC c.2310_2311insGGGC p.Asn771Glyfs*127 Frameshift 20/28 - 1
7-55249012-C-CGGT c.2310_2311insGGT p.Asp770_Asn771insGly InFrameInsertion 20/28 - 13
7-55249012-C-CTAT c.2310_2311insTAT p.Asp770_Asn771insTyr InFrameInsertion 20/28 - 1
7-55249013-CAAC-C c.2311_2313del p.Asn771del InFrameDeletion 20/28 - 1
7-55249013-AAC-ACACAT c.2312_2313delinsCACAT p.Asn771delinsThrHis MultiAAMissense 20/28 - 2
7-55249013-AAC-TTTCAT c.2311_2313delinsTTTCAT p.Asn771delinsPheHis MultiAAMissense 20/28 - 2
7-55249013-AAC-GGTTAT c.2311_2313delinsGGTTAT p.Asn771delinsGlyTyr MultiAAMissense 20/28 - 1
7-55249013-AAC-GGTTTT c.2311_2313delinsGGTTTT p.Asn771delinsGlyPhe MultiAAMissense 20/28 - 1
7-55249013-A-AGCGTAGACA c.2311_2312insGCGTAGACA p.Ser768_Asp770dup InFrameInsertion 20/28 - 2
7-55249013-A-ACCA c.2311_2312insCCA p.Asp770_Asn771insThr InFrameInsertion 20/28 - 1
7-55249013-A-C c.2311A>C p.Asn771His Missense 20/28 - 1
7-55249013-AA-TT c.2311_2312inv p.Asn771Phe Missense 20/28 - 1
7-55249013-A-G c.2311A>G p.Asn771Asp Missense 20/28 - 1
7-55249014-A-C c.2312A>C p.Asn771Thr Missense 20/28 - 9
7-55249014-A-G c.2312A>G p.Asn771Ser Missense 20/28 - 2
7-55249015-C-T c.2313C>T p.Asn771Asn Synonymous 20/28 - 1
7-55249015-C-CGGTTAT c.2313_2314insGGTTAT p.Asn771_Pro772insGlyTyr InFrameInsertion 20/28 - 1
7-55249015-C-CACG c.2313_2314insACG p.Asn771_Pro772insThr InFrameInsertion 20/28 - 1
7-55249016-C-T c.2314C>T p.Pro772Ser Missense 20/28 - 2
7-55249016-C-CACA c.2314_2315insACA p.Pro772delinsHisThr MultiAAMissense 20/28 - 1
7-55249016-C-CATAACC c.2314_2315insATAACC p.Asn771_Pro772insHisAsn InFrameInsertion 20/28 - 1
7-55249016-C-CTTC c.2314_2315insTTC p.Asn771_Pro772insLeu InFrameInsertion 20/28 - 1
7-55249017-CCCC-C c.2315_2317del p.Pro772del InFrameDeletion 20/28 - 3
7-55249017-C-CTCATAACCC c.2315_2316insTCATAACCC p.Asn771_His773dup InFrameInsertion 20/28 - 2
7-55249017-C-G c.2315C>G p.Pro772Arg Missense 20/28 - 1
7-55249017-C-A c.2315C>A p.Pro772His Missense 20/28 - 3
7-55249017-C-CTGGTAACCC c.2315_2316insTGGTAACCC p.Pro772_His773insGlyAsnPro InFrameInsertion 20/28 - 1
7-55249018-C-CACAACACCT c.2316_2317insACAACACCT p.Pro772_His773insThrThrPro InFrameInsertion 20/28 - 1
7-55249018-C-CGGTAACCCT c.2316_2317insGGTAACCCT p.Pro772_His773insGlyAsnPro InFrameInsertion 20/28 - 1
7-55249018-C-CAAC c.2316_2317insAAC p.Pro772_His773insAsn InFrameInsertion 20/28 - 1
7-55249018-C-CTATAACCCT c.2316_2317insTATAACCCT p.Pro772_His773insTyrAsnPro InFrameInsertion 20/28 - 1
7-55249018-C-CAACCCT c.2316_2317insAACCCT p.Asn771_Pro772dup InFrameInsertion 20/28 - 1
7-55249018-C-CGTA c.2316_2317insGTA p.Pro772_His773insVal InFrameInsertion 20/28 - 1
7-55249019-CACGTG-AGGATG c.2317_2320delinsAGGA p.His773_Val774delinsArgMet MultiAAMissense 20/28 - 1
7-55249019-CA-GC c.2317_2318delinsGC p.His773Ala Missense 20/28 - 1
7-55249019-CA-GG c.2317_2318delinsGG p.His773Gly Missense 20/28 - 1
7-55249019-CA-GT c.2317_2318delinsGT p.His773Val Missense 20/28 - 1
7-55249019-C-T c.2317C>T p.His773Tyr Missense 20/28 - 7
7-55249020-A-G c.2318A>G p.His773Arg Missense 20/28 - 8
7-55249020-A-T c.2318A>T p.His773Leu Missense 20/28 - 11
7-55249020-A-AACC c.2318_2319insACC p.His773delinsGlnPro MultiAAMissense 20/28 - 1
7-55249020-A-ATAACCA c.2318_2319insTAACCA p.His773_Val774insAsnHis InFrameInsertion 20/28 - 1
7-55249021-C-CCAT c.2319_2320insCAT p.His773dup InFrameInsertion 20/28 - 5
7-55249021-C-CCCTCAT c.2319_2320insCCTCAT p.Pro772_His773dup InFrameInsertion 20/28 - 2
7-55249021-C-CAACCCTCAT c.2319_2320insAACCCTCAT p.Asn771_His773dup InFrameInsertion 20/28 - 4
7-55249021-C-CTATAACCCTTAT c.2319_2320insTATAACCCTTAT p.His773_Val774insTyrAsnProTyr InFrameInsertion 20/28 - 1
7-55249021-C-T c.2319C>T p.His773His Synonymous 20/28 - 1
7-55249022-G-T c.2320G>T p.Val774Leu Missense 20/28 - 1
7-55249022-G-C c.2320G>C p.Val774Leu Missense 20/28 - 1
7-55249022-G-A c.2320G>A p.Val774Met Missense 20/28 - 18
7-55249022-G-GCACATG c.2320_2321insCACATG p.His773_Val774insAlaHis InFrameInsertion 20/28 - 3
7-55249023-T-C c.2321T>C p.Val774Ala Missense 20/28 - 2
7-55249024-G-C c.2322G>C p.Val774Val Synonymous 20/28 - 1
7-55249024-G-GCCACGT c.2322_2323insCCACGT p.Val774_Cys775insProArg InFrameInsertion 20/28 - 1
7-55249024-G-GCATGTA c.2322_2323insCATGTA p.His773_Val774dup InFrameInsertion 20/28 - 2
7-55249025-T-C c.2323T>C p.Cys775Arg Missense 20/28 - 1
7-55249026-G-A c.2324G>A p.Cys775Tyr Missense 20/28 - 6
7-55249026-G-T c.2324G>T p.Cys775Phe Missense 20/28 - 1
7-55249027-C-CTCCGTGATGGCT c.2325_2326insTCCGTGATGGCT p.Cys775_Arg776insSerValMetAla InFrameInsertion 20/28 - 1
7-55249028-C-T c.2326C>T p.Arg776Cys Missense 20/28 - 22
7-55249028-CG-GC c.2326_2327delinsGC p.Arg776Ala Missense 20/28 - 1
7-55249028-CGC-TGA c.2326_2328delinsTGA p.Arg776* Nonsense 20/28 - 1
7-55249028-C-CCTGCAC c.2326_2327insCTGCAC p.Cys775_Arg776insProAla InFrameInsertion 20/28 - 1
7-55249028-C-G c.2326C>G p.Arg776Gly Missense 20/28 - 7
7-55249028-C-A c.2326C>A p.Arg776Ser Missense 20/28 - 7
7-55249029-G-A c.2327G>A p.Arg776His Missense 20/28 - 52
7-55249029-G-T c.2327G>T p.Arg776Leu Missense 20/28 - 3
7-55249031-C-A c.2329C>A p.Leu777Met Missense 20/28 - 2
7-55249031-CTG-TTT c.2329_2331delinsTTT p.Leu777Phe Missense 20/28 - 2
7-55249031-CTG-TGT c.2329_2331delinsTGT p.Leu777Cys Missense 20/28 - 1
7-55249031-CT-GG c.2329_2330delinsGG p.Leu777Gly Missense 20/28 - 1
7-55249032-T-C c.2330T>C p.Leu777Pro Missense 20/28 - 3
7-55249032-T-A c.2330T>A p.Leu777Gln Missense 20/28 - 2
7-55249033-G-A c.2331G>A p.Leu777Leu Synonymous 20/28 - 1
7-55249035-T-A c.2333T>A p.Leu778Gln Missense 20/28 - 1
7-55249035-T-C c.2333T>C p.Leu778Pro Missense 20/28 - 1
7-55249037-G-T c.2335G>T p.Gly779Cys Missense 20/28 - 8
7-55249037-GG-TT c.2335_2336delinsTT p.Gly779Phe Missense 20/28 - 5
7-55249037-G-A c.2335G>A p.Gly779Ser Missense 20/28 - 4
7-55249038-G-T c.2336G>T p.Gly779Val Missense 20/28 - 2
7-55249038-G-A c.2336G>A p.Gly779Asp Missense 20/28 - 2
7-55249041-T-C c.2339T>C p.Ile780Thr Missense 20/28 - 1
7-55249041-T-G c.2339T>G p.Ile780Ser Missense 20/28 - 2
7-55249043-T-A c.2341T>A p.Cys781Ser Missense 20/28 - 1
7-55249044-G-A c.2342G>A p.Cys781Tyr Missense 20/28 - 2
7-55249044-G-T c.2342G>T p.Cys781Phe Missense 20/28 - 2
7-55249048-C-T c.2346C>T p.Leu782Leu Synonymous 20/28 - 1
7-55249049-A-G c.2347A>G p.Thr783Ala Missense 20/28 - 14
7-55249050-C-T c.2348C>T p.Thr783Ile Missense 20/28 - 4
7-55249051-C-A c.2349C>A p.Thr783Thr Synonymous 20/28 - 1
7-55249051-C-G c.2349C>G p.Thr783Thr Synonymous 20/28 - 1
7-55249051-C-T c.2349C>T p.Thr783Thr Synonymous 20/28 - 1
7-55249052-T-A c.2350T>A p.Ser784Thr Missense 20/28 - 1
7-55249052-T-C c.2350T>C p.Ser784Pro Missense 20/28 - 5
7-55249053-C-A c.2351C>A p.Ser784Tyr Missense 20/28 - 2
7-55249053-C-T c.2351C>T p.Ser784Phe Missense 20/28 - 5
7-55249055-A-G c.2353A>G p.Thr785Ala Missense 20/28 - 1
7-55249056-C-T c.2354C>T p.Thr785Ile Missense 20/28 - 6
7-55249057-C-T c.2355C>T p.Thr785Thr Synonymous 20/28 - 3
7-55249057-C-A c.2355C>A p.Thr785Thr Synonymous 20/28 - 3
7-55249057-C-G c.2355C>G p.Thr785Thr Synonymous 20/28 - 3
7-55249058-G-A c.2356G>A p.Val786Met Missense 20/28 - 8
7-55249058-G-C c.2356G>C p.Val786Leu Missense 20/28 - 1
7-55249058-G-T c.2356G>T p.Val786Leu Missense 20/28 - 1
7-55249059-T-C c.2357T>C p.Val786Ala Missense 20/28 - 1
7-55249061-C-A c.2359C>A p.Gln787Lys Missense 20/28 - 1
7-55249062-A-G c.2360A>G p.Gln787Arg Missense 20/28 - 3
7-55249062-A-T c.2360A>T p.Gln787Leu Missense 20/28 - 1
7-55249063-G-T c.2361G>T p.Gln787His Missense 20/28 - 1
7-55249063-G-C c.2361G>C p.Gln787His Missense 20/28 - 20
7-55249063-G-A c.2361G>A p.Gln787Gln Synonymous 20/28 - 94
7-55249064-C-T c.2362C>T p.Leu788Phe Missense 20/28 - 3
7-55249065-T-A c.2363T>A p.Leu788His Missense 20/28 - 1
7-55249065-TC-AA c.2363_2364delinsAA p.Leu788Gln Missense 20/28 - 1
7-55249067-A-T c.2365A>T p.Ile789Phe Missense 20/28 - 1
7-55249069-C-G c.2367C>G p.Ile789Met Missense 20/28 - 2
7-55249069-C-T c.2367C>T p.Ile789Ile Synonymous 20/28 - 1
7-55249070-AC-TG c.2368_2369delinsTG p.Thr790Trp Missense 20/28 - 1
7-55249070-A-G c.2368A>G p.Thr790Ala Missense 20/28 - 2
7-55249071-CG-TC c.2369_2370delinsTC p.Thr790Ile Missense 20/28 - 2
7-55249071-C-G c.2369C>G p.Thr790Arg Missense 20/28 - 1
7-55249071-C-T c.2369C>T p.Thr790Met Missense 20/28 - 4657
7-55249072-G-C c.2370G>C p.Thr790Thr Synonymous 20/28 - 3
7-55249072-G-T c.2370G>T p.Thr790Thr Synonymous 20/28 - 3
7-55249072-G-A c.2370G>A p.Thr790Thr Synonymous 20/28 - 3
7-55249072-G-GAG c.2370_2371insAG p.Gln791Serfs*36 Frameshift 20/28 - 1
7-55249074-A-G c.2372A>G p.Gln791Arg Missense 20/28 - 3
7-55249074-A-C c.2372A>C p.Gln791Pro Missense 20/28 - 1
7-55249074-A-T c.2372A>T p.Gln791Leu Missense 20/28 - 1
7-55249075-AG-A c.2373del p.Gln791Hisfs*35 Frameshift 20/28 - 1
7-55249075-G-T c.2373G>T p.Gln791His Missense 20/28 - 2
7-55249075-G-C c.2373G>C p.Gln791His Missense 20/28 - 2
7-55249076-GCTC-G c.2374_2376del p.Leu792del InFrameDeletion 20/28 - 1
7-55249076-C-G c.2374C>G p.Leu792Val Missense 20/28 - 2
7-55249076-C-T c.2374C>T p.Leu792Phe Missense 20/28 - 26
7-55249076-CTC-TAA c.2374_2376delinsTAA p.Leu792* Nonsense 20/28 - 3
7-55249077-T-A c.2375T>A p.Leu792His Missense 20/28 - 8
7-55249077-T-G c.2375T>G p.Leu792Arg Missense 20/28 - 1
7-55249077-T-C c.2375T>C p.Leu792Pro Missense 20/28 - 4
7-55249079-A-T c.2377A>T p.Met793Leu Missense 20/28 - 2
7-55249079-A-C c.2377A>C p.Met793Leu Missense 20/28 - 2
7-55249080-T-A c.2378T>A p.Met793Lys Missense 20/28 - 1
7-55249081-G-T c.2379G>T p.Met793Ile Missense 20/28 - 3
7-55249082-C-T c.2380C>T p.Pro794Ser Missense 20/28 - 1
7-55249083-C-A c.2381C>A p.Pro794His Missense 20/28 - 1
7-55249083-C-T c.2381C>T p.Pro794Leu Missense 20/28 - 2
7-55249085-T-G c.2383T>G p.Phe795Val Missense 20/28 - 1
7-55249085-T-C c.2383T>C p.Phe795Leu Missense 20/28 - 1
7-55249087-C-A c.2385C>A p.Phe795Leu Missense 20/28 - 1
7-55249087-C-G c.2385C>G p.Phe795Leu Missense 20/28 - 1
7-55249086-T-C c.2384T>C p.Phe795Ser Missense 20/28 - 2
7-55249086-T-G c.2384T>G p.Phe795Cys Missense 20/28 - 2
7-55249087-C-T c.2385C>T p.Phe795Phe Synonymous 20/28 - 3
7-55249088-G-C c.2386G>C p.Gly796Arg Missense 20/28 - 8
7-55249088-GGC-TGA c.2386_2388delinsTGA p.Gly796* Nonsense 20/28 - 2
7-55249088-G-A c.2386G>A p.Gly796Ser Missense 20/28 - 29
7-55249088-G-T c.2386G>T p.Gly796Cys Missense 20/28 - 2
7-55249089-G-A c.2387G>A p.Gly796Asp Missense 20/28 - 20
7-55249089-G-T c.2387G>T p.Gly796Val Missense 20/28 - 3
7-55249089-G-C c.2387G>C p.Gly796Ala Missense 20/28 - 6
7-55249091-TG-GC c.2389_2390delinsGC p.Cys797Ala Missense 20/28 - 4
7-55249091-TG-AA c.2389_2390delinsAA p.Cys797Asn Missense 20/28 - 1
7-55249092-G-C c.2390G>C p.Cys797Ser Missense 20/28 - 471
7-55249091-T-C c.2389T>C p.Cys797Arg Missense 20/28 - 1
7-55249091-T-A c.2389T>A p.Cys797Ser Missense 20/28 - 469
7-55249091-T-G c.2389T>G p.Cys797Gly Missense 20/28 - 24
7-55249092-G-A c.2390G>A p.Cys797Tyr Missense 20/28 - 2
7-55249093-C-A c.2391C>A p.Cys797* Nonsense 20/28 - 6
7-55249093-C-T c.2391C>T p.Cys797Cys Synonymous 20/28 - 1
7-55249094-C-A c.2392C>A p.Leu798Ile Missense 20/28 - 33
7-55249094-C-G c.2392C>G p.Leu798Val Missense 20/28 - 1
7-55249094-C-T c.2392C>T p.Leu798Phe Missense 20/28 - 1
7-55249095-TC-AA c.2393_2394delinsAA p.Leu798Gln Missense 20/28 - 1
7-55249095-T-A c.2393T>A p.Leu798His Missense 20/28 - 2
7-55249097-C-A c.2395C>A p.Leu799Met Missense 20/28 - 1
7-55249098-T-A c.2396T>A p.Leu799Gln Missense 20/28 - 1
7-55249100-GA-CT c.2398_2399delinsCT p.Asp800Leu Missense 20/28 - 1
7-55249101-A-G c.2399A>G p.Asp800Gly Missense 20/28 - 2
7-55249102-C-T c.2400C>T p.Asp800Asp Synonymous 20/28 - 1
7-55249103-T-C c.2401T>C p.Tyr801His Missense 20/28 - 1
7-55249104-A-T c.2402A>T p.Tyr801Phe Missense 20/28 - 1
7-55249104-A-G c.2402A>G p.Tyr801Cys Missense 20/28 - 3
7-55249106-G-A c.2404G>A p.Val802Ile Missense 20/28 - 6
7-55249106-G-T c.2404G>T p.Val802Phe Missense 20/28 - 1
7-55249107-T-C c.2405T>C p.Val802Ala Missense 20/28 - 1
7-55249109-C-T c.2407C>T p.Arg803Trp Missense 20/28 - 4
7-55249110-G-A c.2408G>A p.Arg803Gln Missense 20/28 - 1
7-55249112-G-A c.2410G>A p.Glu804Lys Missense 20/28 - 2
7-55249113-A-G c.2411A>G p.Glu804Gly Missense 20/28 - 2
7-55249114-A-C c.2412A>C p.Glu804Asp Missense 20/28 - 1
7-55249114-A-T c.2412A>T p.Glu804Asp Missense 20/28 - 1
7-55249115-C-T c.2413C>T p.His805Tyr Missense 20/28 - 2
7-55249116-A-T c.2414A>T p.His805Leu Missense 20/28 - 1
7-55249117-C-T c.2415C>T p.His805His Synonymous 20/28 - 1
7-55249118-A-G c.2416A>G p.Lys806Glu Missense 20/28 - 4
7-55249119-A-T c.2417A>T p.Lys806Ile Missense 20/28 - 2
7-55249121-G-A c.2419G>A p.Asp807Asn Missense 20/28 - 3
7-55249122-A-G c.2420A>G p.Asp807Gly Missense 20/28 - 1
7-55249123-C-A c.2421C>A p.Asp807Glu Missense 20/28 - 2
7-55249123-C-G c.2421C>G p.Asp807Glu Missense 20/28 - 2
7-55249125-A-G c.2423A>G p.Asn808Ser Missense 20/28 - 3
7-55249130-G-A c.2428G>A p.Gly810Ser Missense 20/28 - 8
7-55249131-G-A c.2429G>A p.Gly810Asp Missense 20/28 - 7
7-55249132-C-T c.2430C>T p.Gly810Gly Synonymous 20/28 - 1
7-55249133-T-G c.2431T>G p.Ser811Ala Missense 20/28 - 1
7-55249133-TCC-GAG c.2431_2433delinsGAG p.Ser811Glu Missense 20/28 - 1
7-55249133-TC-GA c.2431_2432inv p.Ser811Asp Missense 20/28 - 1
7-55249134-C-G c.2432C>G p.Ser811Cys Missense 20/28 - 2
7-55249134-C-T c.2432C>T p.Ser811Phe Missense 20/28 - 2
7-55249136-C-T c.2434C>T p.Gln812* Nonsense 20/28 - 1
7-55249137-A-G c.2435A>G p.Gln812Arg Missense 20/28 - 4
7-55249138-G-A c.2436G>A p.Gln812Gln Synonymous 20/28 - 1
7-55249139-T-C c.2437T>C p.Tyr813His Missense 20/28 - 1
7-55249140-A-G c.2438A>G p.Tyr813Cys Missense 20/28 - 2
7-55249140-A-T c.2438A>T p.Tyr813Phe Missense 20/28 - 1
7-55249142-C-A c.2440C>A p.Leu814Met Missense 20/28 - 1
7-55249143-T-C c.2441T>C p.Leu814Pro Missense 20/28 - 2
7-55249145-C-T c.2443C>T p.Leu815Phe Missense 20/28 - 2
7-55249146-T-C c.2444T>C p.Leu815Pro Missense 20/28 - 3
7-55249147-C-T c.2445C>T p.Leu815Leu Synonymous 20/28 - 1
7-55249147-C-A c.2445C>A p.Leu815Leu Synonymous 20/28 - 1
7-55249147-C-G c.2445C>G p.Leu815Leu Synonymous 20/28 - 1
7-55249149-A-G c.2447A>G p.Asn816Ser Missense 20/28 - 1
7-55249152-G-A c.2450G>A p.Trp817* Nonsense 20/28 - 1
7-55249153-G-A c.2451G>A p.Trp817* Nonsense 20/28 - 1
7-55249154-T-G c.2452T>G p.Cys818Gly Missense 20/28 - 1
7-55249154-T-C c.2452T>C p.Cys818Arg Missense 20/28 - 1
7-55249154-T-A c.2452T>A p.Cys818Ser Missense 20/28 - 1
7-55249155-G-C c.2453G>C p.Cys818Ser Missense 20/28 - 1
7-55249155-G-T c.2453G>T p.Cys818Phe Missense 20/28 - 1
7-55249155-G-A c.2453G>A p.Cys818Tyr Missense 20/28 - 2
7-55249157-G-A c.2455G>A p.Val819Met Missense 20/28 - 1
7-55249158-T-A c.2456T>A p.Val819Glu Missense 20/28 - 1
7-55249158-T-C c.2456T>C p.Val819Ala Missense 20/28 - 2
7-55249159-G-A c.2457G>A p.Val819Val Synonymous 20/28 - 6
7-55249161-A-G c.2459A>G p.Gln820Arg Missense 20/28 - 2
7-55249164-T-C c.2462T>C p.Ile821Thr Missense 20/28 - 1
7-55249168-A-C c.2466A>C p.Ala822Ala Synonymous 20/28 - 1
7-55249168-A-T c.2466A>T p.Ala822Ala Synonymous 20/28 - 1
7-55249168-A-G c.2466A>G p.Ala822Ala Synonymous 20/28 - 1
7-55249169-A-G c.2467A>G p.Lys823Glu Missense 20/28 - 1
7-55250026-A-G c.2469+855A>G - IntronicSNV - 20/27 2
7-55250091-G-C c.2469+920G>C - IntronicSNV - 20/27 2
7-55250091-G-A c.2469+920G>A - IntronicSNV - 20/27 2
7-55250130-G-A c.2469+959G>A - IntronicSNV - 20/27 2
7-55250794-C-T c.2469+1623C>T - IntronicSNV - 20/27 3
7-55251593-A-G c.2469+2422A>G - IntronicSNV - 20/27 7
7-55251648-C-T c.2469+2477C>T - IntronicSNV - 20/27 1
7-55251648-C-G c.2469+2477C>G - IntronicSNV - 20/27 1
7-55251953-G-A c.2469+2782G>A - IntronicSNV - 20/27 2
7-55252708-C-T c.2469+3537C>T - IntronicSNV - 20/27 6
7-55253305-C-A c.2469+4134C>A - IntronicSNV - 20/27 2
7-55254186-G-A c.2469+5015G>A - IntronicSNV - 20/27 3
7-55254805-A-G c.2470-4607A>G - IntronicSNV - 20/27 4
7-55255963-T-C c.2470-3449T>C - IntronicSNV - 20/27 3
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.Gly824Ser Missense 21/28 - 4
7-55259413-G-T c.2471G>T p.Gly824Val Missense 21/28 - 1
7-55259413-G-C c.2471G>C p.Gly824Ala Missense 21/28 - 1
7-55259413-G-A c.2471G>A p.Gly824Asp Missense 21/28 - 1
7-55259415-A-C c.2473A>C p.Met825Leu Missense 21/28 - 1
7-55259415-A-T c.2473A>T p.Met825Leu Missense 21/28 - 1
7-55259415-A-G c.2473A>G p.Met825Val Missense 21/28 - 1
7-55259416-T-C c.2474T>C p.Met825Thr Missense 21/28 - 1
7-55259418-A-G c.2476A>G p.Asn826Asp Missense 21/28 - 1
7-55259418-A-C c.2476A>C p.Asn826His Missense 21/28 - 1
7-55259418-A-T c.2476A>T p.Asn826Tyr Missense 21/28 - 2
7-55259419-A-G c.2477A>G p.Asn826Ser Missense 21/28 - 10
7-55259420-C-A c.2478C>A p.Asn826Lys Missense 21/28 - 1
7-55259422-A-G c.2480A>G p.Tyr827Cys Missense 21/28 - 1
7-55259424-T-A c.2482T>A p.Leu828Met Missense 21/28 - 1
7-55259424-TT-AG c.2482_2483delinsAG p.Leu828Arg Missense 21/28 - 1
7-55259426-G-T c.2484G>T p.Leu828Phe Missense 21/28 - 1
7-55259427-G-C c.2485G>C p.Glu829Gln Missense 21/28 - 2
7-55259429-G-A c.2487G>A p.Glu829Glu Synonymous 21/28 - 1
7-55259429-G-T c.2487G>T p.Glu829Asp Missense 21/28 - 1
7-55259429-G-C c.2487G>C p.Glu829Asp Missense 21/28 - 1
7-55259430-G-A c.2488G>A p.Asp830Asn Missense 21/28 - 1
7-55259430-G-T c.2488G>T p.Asp830Tyr Missense 21/28 - 1
7-55259432-C-T c.2490C>T p.Asp830Asp Synonymous 21/28 - 1
7-55259433-C-T c.2491C>T p.Arg831Cys Missense 21/28 - 9
7-55259434-G-A c.2492G>A p.Arg831His Missense 21/28 - 11
7-55259434-G-T c.2492G>T p.Arg831Leu Missense 21/28 - 1
7-55259434-GT-AA c.2492_2493delinsAA p.Arg831Gln Missense 21/28 - 1
7-55259436-C-T c.2494C>T p.Arg832Cys Missense 21/28 - 2
7-55259437-G-A c.2495G>A p.Arg832His Missense 21/28 - 4
7-55259439-T-G c.2497T>G p.Leu833Val Missense 21/28 - 38
7-55259439-TT-AG c.2497_2498delinsAG p.Leu833Arg Missense 21/28 - 1
7-55259440-T-A c.2498T>A p.Leu833* Nonsense 21/28 - 3
7-55259441-G-C c.2499G>C p.Leu833Phe Missense 21/28 - 7
7-55259441-G-A c.2499G>A p.Leu833Leu Synonymous 21/28 - 1
7-55259441-G-T c.2499G>T p.Leu833Phe Missense 21/28 - 7
7-55259442-GGTG-G c.2500_2502del p.Val834del InFrameDeletion 21/28 - 1
7-55259442-G-A c.2500G>A p.Val834Met Missense 21/28 - 1
7-55259442-G-T c.2500G>T p.Val834Leu Missense 21/28 - 21
7-55259442-GTG-TGT c.2500_2502delinsTGT p.Val834Cys Missense 21/28 - 1
7-55259442-GTG-ATC c.2500_2502delinsATC p.Val834Ile Missense 21/28 - 1
7-55259443-T-C c.2501T>C p.Val834Ala Missense 21/28 - 2
7-55259444-G-A c.2502G>A p.Val834Val Synonymous 21/28 - 2
7-55259445-C-T c.2503C>T p.His835Tyr Missense 21/28 - 1
7-55259445-CA-TT c.2503_2504delinsTT p.His835Phe Missense 21/28 - 1
7-55259446-A-T c.2504A>T p.His835Leu Missense 21/28 - 24
7-55259448-C-G c.2506C>G p.Arg836Gly Missense 21/28 - 1
7-55259448-C-T c.2506C>T p.Arg836Cys Missense 21/28 - 5
7-55259449-G-C c.2507G>C p.Arg836Pro Missense 21/28 - 1
7-55259449-G-A c.2507G>A p.Arg836His Missense 21/28 - 2
7-55259449-G-T c.2507G>T p.Arg836Leu Missense 21/28 - 1
7-55259450-C-G c.2508C>G p.Arg836Arg Synonymous 21/28 - 14
7-55259450-C-A c.2508C>A p.Arg836Arg Synonymous 21/28 - 14
7-55259450-C-T c.2508C>T p.Arg836Arg Synonymous 21/28 - 16
7-55259451-G-A c.2509G>A p.Asp837Asn Missense 21/28 - 4
7-55259451-G-T c.2509G>T p.Asp837Tyr Missense 21/28 - 3
7-55259451-GA-AC c.2509_2510delinsAC p.Asp837Thr Missense 21/28 - 1
7-55259452-A-G c.2510A>G p.Asp837Gly Missense 21/28 - 1
7-55259452-A-C c.2510A>C p.Asp837Ala Missense 21/28 - 8
7-55259454-C-A c.2512C>A p.Leu838Met Missense 21/28 - 1
7-55259454-C-G c.2512C>G p.Leu838Val Missense 21/28 - 6
7-55259454-C-T c.2512C>T p.Leu838Leu Synonymous 21/28 - 1
7-55259455-T-C c.2513T>C p.Leu838Pro Missense 21/28 - 6
7-55259455-T-G c.2513T>G p.Leu838Arg Missense 21/28 - 2
7-55259457-G-A c.2515G>A p.Ala839Thr Missense 21/28 - 7
7-55259457-G-T c.2515G>T p.Ala839Ser Missense 21/28 - 1
7-55259458-C-T c.2516C>T p.Ala839Val Missense 21/28 - 1
7-55259458-C-CC c.2516dup p.Ala840Serfs*57 Frameshift 21/28 - 1
7-55259459-A-G c.2517A>G p.Ala839Ala Synonymous 21/28 - 1
7-55259460-G-A c.2518G>A p.Ala840Thr Missense 21/28 - 4
7-55259461-C-T c.2519C>T p.Ala840Val Missense 21/28 - 1
7-55259462-C-G c.2520C>G p.Ala840Ala Synonymous 21/28 - 1
7-55259462-C-A c.2520C>A p.Ala840Ala Synonymous 21/28 - 1
7-55259462-C-T c.2520C>T p.Ala840Ala Synonymous 21/28 - 1
7-55259463-AG-GC c.2521_2522delinsGC p.Arg841Ala Missense 21/28 - 1
7-55259463-AG-CC c.2521_2522delinsCC p.Arg841Pro Missense 21/28 - 1
7-55259464-G-T c.2522G>T p.Arg841Met Missense 21/28 - 1
7-55259464-G-A c.2522G>A p.Arg841Lys Missense 21/28 - 2
7-55259465-G-A c.2523G>A p.Arg841Arg Synonymous 21/28 - 2
7-55259466-AAC-CAA c.2524_2526delinsCAA p.Asn842Gln Missense 21/28 - 1
7-55259466-A-C c.2524A>C p.Asn842His Missense 21/28 - 1
7-55259467-A-G c.2525A>G p.Asn842Ser Missense 21/28 - 3
7-55259467-A-T c.2525A>T p.Asn842Ile Missense 21/28 - 1
7-55259468-C-G c.2526C>G p.Asn842Lys Missense 21/28 - 1
7-55259468-C-A c.2526C>A p.Asn842Lys Missense 21/28 - 1
7-55259468-C-T c.2526C>T p.Asn842Asn Synonymous 21/28 - 1
7-55259469-G-A c.2527G>A p.Val843Ile Missense 21/28 - 41
7-55259472-CT-TA c.2530_2531delinsTA p.Leu844* Nonsense 21/28 - 1
7-55259472-C-G c.2530C>G p.Leu844Val Missense 21/28 - 26
7-55259472-C-A c.2530C>A p.Leu844Met Missense 21/28 - 1
7-55259472-CTG-TTT c.2530_2532delinsTTT p.Leu844Phe Missense 21/28 - 1
7-55259472-CTG-AAC c.2530_2532delinsAAC p.Leu844Asn Missense 21/28 - 1
7-55259474-G-A c.2532G>A p.Leu844Leu Synonymous 21/28 - 1
7-55259475-G-A c.2533G>A p.Val845Met Missense 21/28 - 3
7-55259476-T-C c.2534T>C p.Val845Ala Missense 21/28 - 2
7-55259479-A-T c.2537A>T p.Lys846Ile Missense 21/28 - 1
7-55259479-A-G c.2537A>G p.Lys846Arg Missense 21/28 - 5
7-55259481-A-G c.2539A>G p.Thr847Ala Missense 21/28 - 6
7-55259482-C-G c.2540C>G p.Thr847Arg Missense 21/28 - 1
7-55259482-C-T c.2540C>T p.Thr847Ile Missense 21/28 - 6
7-55259485-C-A c.2543C>A p.Pro848Gln Missense 21/28 - 1
7-55259485-C-T c.2543C>T p.Pro848Leu Missense 21/28 - 31
7-55259486-G-A c.2544G>A p.Pro848Pro Synonymous 21/28 - 1
7-55259488-A-G c.2546A>G p.Gln849Arg Missense 21/28 - 2
7-55259488-A-T c.2546A>T p.Gln849Leu Missense 21/28 - 3
7-55259489-G-A c.2547G>A p.Gln849Gln Synonymous 21/28 - 1
7-55259490-C-G c.2548C>G p.His850Asp Missense 21/28 - 2
7-55259490-C-T c.2548C>T p.His850Tyr Missense 21/28 - 2
7-55259491-A-G c.2549A>G p.His850Arg Missense 21/28 - 1
7-55259491-A-T c.2549A>T p.His850Leu Missense 21/28 - 1
7-55259493-G-A c.2551G>A p.Val851Ile Missense 21/28 - 6
7-55259493-GTC-TAA c.2551_2553delinsTAA p.Val851* Nonsense 21/28 - 2
7-55259494-T-C c.2552T>C p.Val851Ala Missense 21/28 - 3
7-55259496-A-C c.2554A>C p.Lys852Gln Missense 21/28 - 1
7-55259497-A-G c.2555A>G p.Lys852Arg Missense 21/28 - 1
7-55259500-T-C c.2558T>C p.Ile853Thr Missense 21/28 - 3
7-55259502-A-T c.2560A>T p.Thr854Ser Missense 21/28 - 3
7-55259502-A-C c.2560A>C p.Thr854Pro Missense 21/28 - 1
7-55259502-A-G c.2560A>G p.Thr854Ala Missense 21/28 - 119
7-55259503-C-T c.2561C>T p.Thr854Ile Missense 21/28 - 2
7-55259503-C-G c.2561C>G p.Thr854Arg Missense 21/28 - 1
7-55259503-C-A c.2561C>A p.Thr854Lys Missense 21/28 - 1
7-55259503-C-CC c.2561dup p.Asp855Argfs*42 Frameshift 21/28 - 1
7-55259505-G-A c.2563G>A p.Asp855Asn Missense 21/28 - 5
7-55259505-G-C c.2563G>C p.Asp855His Missense 21/28 - 2
7-55259506-A-G c.2564A>G p.Asp855Gly Missense 21/28 - 5
7-55259506-A-C c.2564A>C p.Asp855Ala Missense 21/28 - 4
7-55259507-T-C c.2565T>C p.Asp855Asp Synonymous 21/28 - 1
7-55259510-T-A c.2568T>A p.Phe856Leu Missense 21/28 - 4
7-55259510-T-G c.2568T>G p.Phe856Leu Missense 21/28 - 4
7-55259508-T-C c.2566T>C p.Phe856Leu Missense 21/28 - 4
7-55259509-T-A c.2567T>A p.Phe856Tyr Missense 21/28 - 2
7-55259509-T-C c.2567T>C p.Phe856Ser Missense 21/28 - 1
7-55259511-G-T c.2569G>T p.Gly857Trp Missense 21/28 - 1
7-55259511-G-A c.2569G>A p.Gly857Arg Missense 21/28 - 7
7-55259512-G-T c.2570G>T p.Gly857Val Missense 21/28 - 4
7-55259512-G-A c.2570G>A p.Gly857Glu Missense 21/28 - 11
7-55259513-G-A c.2571G>A p.Gly857Gly Synonymous 21/28 - 1
7-55259514-CT-GG c.2572_2573delinsGG p.Leu858Gly Missense 21/28 - 1
7-55259514-CT-GA c.2572_2573delinsGA p.Leu858Glu Missense 21/28 - 1
7-55259514-CT-GC c.2572_2573delinsGC p.Leu858Ala Missense 21/28 - 3
7-55259514-CT-AA c.2572_2573delinsAA p.Leu858Lys Missense 21/28 - 2
7-55259514-CTG-ATC c.2572_2574delinsATC p.Leu858Ile Missense 21/28 - 2
7-55259514-C-G c.2572C>G p.Leu858Val Missense 21/28 - 2
7-55259514-CTG-TTT c.2572_2574delinsTTT p.Leu858Phe Missense 21/28 - 1
7-55259514-CT-TG c.2572_2573delinsTG p.Leu858Trp Missense 21/28 - 2
7-55259514-GCTG-G c.2572_2574del p.Leu858del InFrameDeletion 21/28 - 1
7-55259514-C-A c.2572C>A p.Leu858Met Missense 21/28 - 24
7-55259514-CTG-GAC c.2572_2574delinsGAC p.Leu858Asp Missense 21/28 - 1
7-55259515-T-G c.2573T>G p.Leu858Arg Missense 21/28 - 4563
7-55259515-T-C c.2573T>C p.Leu858Pro Missense 21/28 - 2
7-55259515-T-A c.2573T>A p.Leu858Gln Missense 21/28 - 14
7-55259515-TG-GT c.2573_2574delinsGT p.Leu858Arg Missense 21/28 - 1
7-55259515-TG-AT c.2573_2574delinsAT p.Leu858His Missense 21/28 - 1
7-55259515-TG-GA c.2573_2574delinsGA p.Leu858Arg Missense 21/28 - 1
7-55259516-G-A c.2574G>A p.Leu858Leu Synonymous 21/28 - 4
7-55259514-C-T c.2572C>T p.Leu858Leu Synonymous 21/28 - 4
7-55259516-G-C c.2574G>C p.Leu858Leu Synonymous 21/28 - 4
7-55259516-G-T c.2574G>T p.Leu858Leu Synonymous 21/28 - 5
7-55259517-G-T c.2575G>T p.Ala859Ser Missense 21/28 - 3
7-55259517-GCC-TAA c.2575_2577delinsTAA p.Ala859* Nonsense 21/28 - 1
7-55259517-G-A c.2575G>A p.Ala859Thr Missense 21/28 - 15
7-55259518-C-T c.2576C>T p.Ala859Val Missense 21/28 - 2
7-55259519-C-T c.2577C>T p.Ala859Ala Synonymous 21/28 - 1
7-55259520-A-G c.2578A>G p.Lys860Glu Missense 21/28 - 5
7-55259521-AAA-A c.2579_2580del p.Lys860Thrfs*36 Frameshift 21/28 - 1
7-55259521-A-T c.2579A>T p.Lys860Ile Missense 21/28 - 10
7-55259521-A-G c.2579A>G p.Lys860Arg Missense 21/28 - 1
7-55259522-A-T c.2580A>T p.Lys860Asn Missense 21/28 - 2
7-55259523-CT-GA c.2581_2582delinsGA p.Leu861Glu Missense 21/28 - 3
7-55259523-CT-GG c.2581_2582delinsGG p.Leu861Gly Missense 21/28 - 10
7-55259523-C-G c.2581C>G p.Leu861Val Missense 21/28 - 3
7-55259523-C-A c.2581C>A p.Leu861Met Missense 21/28 - 1
7-55259523-CT-AA c.2581_2582delinsAA p.Leu861Lys Missense 21/28 - 2
7-55259523-CTG-ATC c.2581_2583delinsATC p.Leu861Ile Missense 21/28 - 1
7-55259523-CTG-TTT c.2581_2583delinsTTT p.Leu861Phe Missense 21/28 - 2
7-55259523-CT-TA c.2581_2582delinsTA p.Leu861* Nonsense 21/28 - 18
7-55259524-T-A c.2582T>A p.Leu861Gln Missense 21/28 - 858
7-55259524-T-G c.2582T>G p.Leu861Arg Missense 21/28 - 45
7-55259524-T-C c.2582T>C p.Leu861Pro Missense 21/28 - 7
7-55259523-C-T c.2581C>T p.Leu861Leu Synonymous 21/28 - 2
7-55259525-G-A c.2583G>A p.Leu861Leu Synonymous 21/28 - 2
7-55259526-CTG-TAT c.2584_2586delinsTAT p.Leu862Tyr Missense 21/28 - 1
7-55259526-C-G c.2584C>G p.Leu862Val Missense 21/28 - 2
7-55259527-T-A c.2585T>A p.Leu862Gln Missense 21/28 - 1
7-55259527-T-G c.2585T>G p.Leu862Arg Missense 21/28 - 4
7-55259529-G-A c.2587G>A p.Gly863Ser Missense 21/28 - 6
7-55259529-G-T c.2587G>T p.Gly863Cys Missense 21/28 - 2
7-55259530-G-A c.2588G>A p.Gly863Asp Missense 21/28 - 16
7-55259530-G-T c.2588G>T p.Gly863Val Missense 21/28 - 3
7-55259532-G-A c.2590G>A p.Ala864Thr Missense 21/28 - 4
7-55259533-C-T c.2591C>T p.Ala864Val Missense 21/28 - 6
7-55259534-G-A c.2592G>A p.Ala864Ala Synonymous 21/28 - 1
7-55259535-G-A c.2593G>A p.Glu865Lys Missense 21/28 - 3
7-55259536-A-G c.2594A>G p.Glu865Gly Missense 21/28 - 1
7-55259538-G-T c.2596G>T p.Glu866* Nonsense 21/28 - 1
7-55259538-G-C c.2596G>C p.Glu866Gln Missense 21/28 - 1
7-55259538-G-A c.2596G>A p.Glu866Lys Missense 21/28 - 4
7-55259538-GA-AG c.2596_2597delinsAG p.Glu866Arg Missense 21/28 - 1
7-55259539-A-G c.2597A>G p.Glu866Gly Missense 21/28 - 1
7-55259540-G-C c.2598G>C p.Glu866Asp Missense 21/28 - 1
7-55259540-G-T c.2598G>T p.Glu866Asp Missense 21/28 - 1
7-55259541-AAA-GAC c.2599_2601delinsGAC p.Lys867Asp Missense 21/28 - 1
7-55259541-A-G c.2599A>G p.Lys867Glu Missense 21/28 - 2
7-55259542-A-T c.2600A>T p.Lys867Ile Missense 21/28 - 1
7-55259543-A-C c.2601A>C p.Lys867Asn Missense 21/28 - 1
7-55259543-A-T c.2601A>T p.Lys867Asn Missense 21/28 - 1
7-55259544-G-A c.2602G>A p.Glu868Lys Missense 21/28 - 4
7-55259544-G-C c.2602G>C p.Glu868Gln Missense 21/28 - 1
7-55259545-A-G c.2603A>G p.Glu868Gly Missense 21/28 - 7
7-55259545-A-T c.2603A>T p.Glu868Val Missense 21/28 - 2
7-55259546-A-C c.2604A>C p.Glu868Asp Missense 21/28 - 1
7-55259546-A-T c.2604A>T p.Glu868Asp Missense 21/28 - 1
7-55259548-A-T c.2606A>T p.Tyr869Phe Missense 21/28 - 1
7-55259549-C-A c.2607C>A p.Tyr869* Nonsense 21/28 - 1
7-55259550-C-T c.2608C>T p.His870Tyr Missense 21/28 - 2
7-55259551-A-G c.2609A>G p.His870Arg Missense 21/28 - 6
7-55259552-T-G c.2610T>G p.His870Gln Missense 21/28 - 2
7-55259552-T-A c.2610T>A p.His870Gln Missense 21/28 - 2
7-55259553-G-A c.2611G>A p.Ala871Thr Missense 21/28 - 5
7-55259553-G-T c.2611G>T p.Ala871Ser Missense 21/28 - 1
7-55259554-C-G c.2612C>G p.Ala871Gly Missense 21/28 - 7
7-55259554-C-A c.2612C>A p.Ala871Glu Missense 21/28 - 6
7-55259554-C-T c.2612C>T p.Ala871Val Missense 21/28 - 3
7-55259556-G-A c.2614G>A p.Glu872Lys Missense 21/28 - 10
7-55259559-G-A c.2617G>A p.Gly873Arg Missense 21/28 - 6
7-55259560-G-A c.2618G>A p.Gly873Glu Missense 21/28 - 12
7-55259562-G-C c.2620G>C p.Gly874Arg Missense 21/28 - 1
7-55259562-G-A c.2620G>A p.Gly874Ser Missense 21/28 - 3
7-55259563-G-A c.2621G>A p.Gly874Asp Missense 21/28 - 1
7-55259564-C-A c.2622C>A p.Gly874Gly Synonymous 21/28 - 1
7-55259568-G-A c.2625+1G>A - IntronicSNV - 21/27 1
7-55259635-C-T c.2625+68C>T - IntronicSNV - 21/27 1
7-55259763-A-G c.2625+196A>G - IntronicSNV - 21/27 4
7-55259948-C-G c.2625+381C>G - IntronicSNV - 21/27 1
7-55260467-C-T c.2634C>T p.Ile878Ile Synonymous 22/28 - 1
7-55260469-A-G c.2636A>G p.Lys879Arg Missense 22/28 - 1
7-55260475-T-C c.2642T>C p.Met881Thr Missense 22/28 - 1
7-55260480-T-G c.2647T>G p.Leu883Val Missense 22/28 - 2
7-55260481-T-C c.2648T>C p.Leu883Ser Missense 22/28 - 1
7-55260483-G-A c.2650G>A p.Glu884Lys Missense 22/28 - 14
7-55260487-C-T c.2654C>T p.Ser885Leu Missense 22/28 - 1
7-55260498-A-G c.2665A>G p.Arg889Gly Missense 22/28 - 1
7-55260498-AGA-TGG c.2665_2667delinsTGG p.Arg889Trp Missense 22/28 - 1
7-55260505-A-G c.2672A>G p.Tyr891Cys Missense 22/28 - 1
7-55260506-T-C c.2673T>C p.Tyr891Tyr Synonymous 22/28 - 1
7-55260511-A-G c.2678A>G p.His893Arg Missense 22/28 - 2
7-55260523-T-C c.2690T>C p.Val897Ala Missense 22/28 - 3
7-55260528-AG-TT c.2695_2696delinsTT p.Ser899Phe Missense 22/28 - 1
7-55260534-G-A c.2701G>A p.Gly901Arg Missense 22/28 - 1
7-55260534-G-C c.2701G>C p.Gly901Arg Missense 22/28 - 1
7-55261342-A-C c.2701+808A>C - IntronicSNV - 22/27 2
7-55262627-T-A c.2701+2093T>A - IntronicSNV - 22/27 1
7-55262627-T-C c.2701+2093T>C - IntronicSNV - 22/27 1
7-55263562-G-C c.2702-2848G>C - IntronicSNV - 22/27 3
7-55263562-G-A c.2702-2848G>A - IntronicSNV - 22/27 3
7-55265354-A-T c.2702-1056A>T - IntronicSNV - 22/27 2
7-55265940-G-A c.2702-470G>A - IntronicSNV - 22/27 2
7-55265940-G-C c.2702-470G>C - IntronicSNV - 22/27 2
7-55266417-T-C c.2709T>C p.Thr903Thr Synonymous 23/28 - 19
7-55266417-T-G c.2709T>G p.Thr903Thr Synonymous 23/28 - 8
7-55266417-T-A c.2709T>A p.Thr903Thr Synonymous 23/28 - 18
7-55266424-G-T c.2716G>T p.Glu906* Nonsense 23/28 - 1
7-55266434-CC-TG c.2726_2727delinsTG p.Thr909Met Missense 23/28 - 1
7-55266442-T-C c.2734T>C p.Ser912Pro Missense 23/28 - 1
7-55266454-G-C c.2746G>C p.Asp916His Missense 23/28 - 1
7-55266456-C-T c.2748C>T p.Asp916Asp Synonymous 23/28 - 1
7-55266465-T-C c.2757T>C p.Pro919Pro Synonymous 23/28 - 1
7-55266472-G-A c.2764G>A p.Glu922Lys Missense 23/28 - 1
7-55266476-T-C c.2768T>C p.Ile923Thr Missense 23/28 - 1
7-55266490-G-A c.2782G>A p.Glu928Lys Missense 23/28 - 1
7-55266491-A-G c.2783A>G p.Glu928Gly Missense 23/28 - 4
7-55266500-A-G c.2792A>G p.Glu931Gly Missense 23/28 - 1
7-55266501-A-G c.2793A>G p.Glu931Glu Synonymous 23/28 - 1
7-55266502-C-T c.2794C>T p.Arg932Cys Missense 23/28 - 1
7-55266506-T-C c.2798T>C p.Leu933Pro Missense 23/28 - 1
7-55266511-C-T c.2803C>T p.Gln935* Nonsense 23/28 - 1
7-55266512-A-T c.2804A>T p.Gln935Leu Missense 23/28 - 1
7-55266518-C-T c.2810C>T p.Pro937Leu Missense 23/28 - 3
7-55266522-A-G c.2814A>G p.Ile938Met Missense 23/28 - 1
7-55266526-A-G c.2818A>G p.Thr940Ala Missense 23/28 - 4
7-55266530-TC-GG c.2822_2823delinsGG p.Ile941Arg Missense 23/28 - 8
7-55266538-T-G c.2830T>G p.Tyr944Asp Missense 23/28 - 1
7-55266538-TAC-GAG c.2830_2832delinsGAG p.Tyr944Glu Missense 23/28 - 1
7-55266539-A-T c.2831A>T p.Tyr944Phe Missense 23/28 - 2
7-55266541-AT-CA c.2833_2834delinsCA p.Met945Gln Missense 23/28 - 1
7-55266542-T-A c.2834T>A p.Met945Lys Missense 23/28 - 1
7-55266547-A-G c.2839A>G p.Met947Val Missense 23/28 - 1
7-55266548-T-C c.2840T>C p.Met947Thr Missense 23/28 - 3
7-55266550-G-A c.2842G>A p.Val948Ile Missense 23/28 - 1
7-55266550-GT-CG c.2842_2843delinsCG p.Val948Arg Missense 23/28 - 20
7-55266551-T-G c.2843T>G p.Val948Gly Missense 23/28 - 1
7-55266554-A-T c.2846A>T p.Lys949Met Missense 23/28 - 1
7-55266757-C-T c.2848+201C>T - IntronicSNV - 23/27 2
7-55268015-T-G c.2855T>G p.Met952Arg Missense 24/28 - 4
7-55268021-A-C c.2861A>C p.Asp954Ala Missense 24/28 - 3
7-55268027-A-T c.2867A>T p.Asp956Val Missense 24/28 - 1
7-55268032-CG-GA c.2872_2873delinsGA p.Arg958Asp Missense 24/28 - 1
7-55268036-C-T c.2876C>T p.Pro959Leu Missense 24/28 - 1
7-55268044-CGT-GAG c.2884_2886delinsGAG p.Arg962Glu Missense 24/28 - 1
7-55268044-C-T c.2884C>T p.Arg962Cys Missense 24/28 - 2
7-55268044-C-G c.2884C>G p.Arg962Gly Missense 24/28 - 3
7-55268044-C-A c.2884C>A p.Arg962Ser Missense 24/28 - 1
7-55268050-T-C c.2890T>C p.Leu964Leu Synonymous 24/28 - 1
7-55268052-G-A c.2892G>A p.Leu964Leu Synonymous 24/28 - 1
7-55268064-C-A c.2904C>A p.Phe968Leu Missense 24/28 - 1
7-55268064-C-G c.2904C>G p.Phe968Leu Missense 24/28 - 1
7-55268062-T-C c.2902T>C p.Phe968Leu Missense 24/28 - 1
7-55268064-C-T c.2904C>T p.Phe968Phe Synonymous 24/28 - 1
7-55268065-TC-GA c.2905_2906inv p.Ser969Asp Missense 24/28 - 1
7-55268068-A-G c.2908A>G p.Lys970Glu Missense 24/28 - 1
7-55268078-G-A c.2918G>A p.Arg973Gln Missense 24/28 - 1
7-55268089-CGC-TGA c.2929_2931delinsTGA p.Arg977* Nonsense 24/28 - 1
7-55268089-C-T c.2929C>T p.Arg977Cys Missense 24/28 - 3
7-55268093-A-T c.2933A>T p.Tyr978Phe Missense 24/28 - 1
7-55268104-C-T c.2944C>T p.Gln982* Nonsense 24/28 - 1
7-55268897-A-C c.2963A>C p.His988Pro Missense 25/28 - 3
7-55268897-A-G c.2963A>G p.His988Arg Missense 25/28 - 1
7-55268905-AG-GC c.2971_2972delinsGC p.Ser991Ala Missense 25/28 - 1
7-55268916-C-T c.2982C>T p.Asp994Asp Synonymous 25/28 - 27
7-55268922-C-A c.2988C>A p.Asn996Lys Missense 25/28 - 1
7-55268927-A-T c.2993A>T p.Tyr998Phe Missense 25/28 - 2
7-55268944-G-A c.3010G>A p.Glu1004Lys Missense 25/28 - 2
7-55268953-ATG-GAC c.3019_3021delinsGAC p.Met1007Asp Missense 25/28 - 1
7-55268968-G-C c.3034G>C p.Asp1012His Missense 25/28 - 1
7-55268972-C-T c.3038C>T p.Ala1013Val Missense 25/28 - 1
7-55268974-GAC-AAG c.3040_3042delinsAAG p.Asp1014Lys Missense 25/28 - 1
7-55268974-G-A c.3040G>A p.Asp1014Asn Missense 25/28 - 1
7-55268977-G-A c.3043G>A p.Glu1015Lys Missense 25/28 - 1
7-55268981-A-T c.3047A>T p.Tyr1016Phe Missense 25/28 - 1
7-55268989-C-A c.3055C>A p.Pro1019Thr Missense 25/28 - 2
7-55268990-C-A c.3056C>A p.Pro1019Gln Missense 25/28 - 1
7-55269007-AGC-GAG c.3073_3075delinsGAG p.Ser1025Glu Missense 25/28 - 1
7-55269031-C-T c.3097C>T p.Pro1033Ser Missense 25/28 - 2
7-55269042-C-G c.3108C>G p.Ser1036Arg Missense 25/28 - 1
7-55269042-C-A c.3108C>A p.Ser1036Arg Missense 25/28 - 1
7-55269040-A-C c.3106A>C p.Ser1036Arg Missense 25/28 - 1
7-55269046-CT-GC c.3112_3113delinsGC p.Leu1038Ala Missense 25/28 - 1
7-55269446-T-G c.3133T>G p.Ser1045Ala Missense 26/28 - 1
7-55269456-C-T c.3143C>T p.Ala1048Val Missense 26/28 - 1
7-55269458-TG-GC c.3145_3146delinsGC p.Cys1049Ala Missense 26/28 - 2
7-55270231-G-T c.3184G>T p.Glu1062* Nonsense 27/28 - 1
7-55270235-A-C c.3188A>C p.Asp1063Ala Missense 27/28 - 1
7-55270246-C-T c.3199C>T p.Gln1067* Nonsense 27/28 - 1
7-55270249-C-T c.3202C>T p.Arg1068* Nonsense 27/28 - 2
7-55270253-A-G c.3206A>G p.Tyr1069Cys Missense 27/28 - 3
7-55270253-A-T c.3206A>T p.Tyr1069Phe Missense 27/28 - 1
7-55270273-G-A c.3226G>A p.Ala1076Thr Missense 27/28 - 1
7-55270282-G-A c.3235G>A p.Glu1079Lys Missense 27/28 - 1
7-55270291-A-T c.3244A>T p.Ile1082Leu Missense 27/28 - 1
7-55270294-G-A c.3247G>A p.Asp1083Asn Missense 27/28 - 1
7-55270297-G-A c.3250G>A p.Asp1084Asn Missense 27/28 - 1
7-55270301-C-A c.3254C>A p.Thr1085Asn Missense 27/28 - 1
7-55270310-C-T c.3263C>T p.Pro1088Leu Missense 27/28 - 1
7-55272952-A-T c.3275A>T p.Tyr1092Phe Missense 28/28 - 1
7-55272976-AGG-A c.3299_3300del p.Arg1100Thrfs*66 Frameshift 28/28 - 1
7-55272987-T-G c.3310T>G p.Ser1104Ala Missense 28/28 - 1
7-55273006-A-T c.3329A>T p.Tyr1110Phe Missense 28/28 - 2
7-55273014-C-G c.3337C>G p.Gln1113Glu Missense 28/28 - 1
7-55273029-G-A c.3352G>A p.Ala1118Thr Missense 28/28 - 3
7-55273051-A-T c.3374A>T p.Tyr1125Phe Missense 28/28 - 1
7-55273056-G-A c.3379G>A p.Asp1127Asn Missense 28/28 - 1
7-55273089-TA-GC c.3412_3413delinsGC p.Tyr1138Ala Missense 28/28 - 1
7-55273090-A-T c.3413A>T p.Tyr1138Phe Missense 28/28 - 1
7-55273113-TG-GC c.3436_3437delinsGC p.Cys1146Ala Missense 28/28 - 1
7-55273135-G-T c.3458G>T p.Ser1153Ile Missense 28/28 - 1
7-55273150-C-T c.3473C>T p.Ala1158Val Missense 28/28 - 1
7-55273176-C-G c.3499C>G p.Leu1167Val Missense 28/28 - 2
7-55273185-C-G c.3508C>G p.Pro1170Ala Missense 28/28 - 3
7-55273192-A-T c.3515A>T p.Tyr1172Phe Missense 28/28 - 1
7-55273193-C-T c.3516C>T p.Tyr1172Tyr Synonymous 28/28 - 1
7-55273215-GGAAG-G c.3538_3541del p.Glu1180Profs*18 Frameshift 28/28 - 1
7-55273245-T-C c.3568T>C p.Ser1190Pro Missense 28/28 - 1
7-55273248-ACA-TGT c.3571_3573inv p.Thr1191Cys Missense 28/28 - 2
7-55273267-A-T c.3590A>T p.Tyr1197Phe Missense 28/28 - 2
7-55273269-CTA-TTT c.3592_3594delinsTTT p.Leu1198Phe Missense 28/28 - 3
7-55273278-G-A c.3601G>A p.Ala1201Thr Missense 28/28 - 1
7-55274031-G-A c.*721G>A - 3-UTRSNV 28/28 - 1
7-55274084-T-C c.*774T>C - 3-UTRSNV 28/28 - 12
7-55274084-T-G c.*774T>G - 3-UTRSNV 28/28 - 12
7-55275482-G-T c.*2172G>T - IntergenicSNV 28/28 - 4
7-55275482-G-A c.*2172G>A - IntergenicSNV 28/28 - 4
7-55276094-A-G c.*2784A>G - IntergenicSNV 28/28 - 4
7-55276280-G-C c.*2970G>C - IntergenicSNV 28/28 - 6
7-55276280-G-A c.*2970G>A - IntergenicSNV 28/28 - 6
7-55277387-C-T c.*4077C>T - IntergenicSNV 28/28 - 2
7-55277964-G-A c.*4654G>A - IntergenicSNV 28/28 - 2
7-55278852-C-A c.*5542C>A - IntergenicSNV 28/28 - 2
7-55279280-C-A c.*5970C>A - IntergenicSNV 28/28 - 1