RB1 RB transcriptional corepressor 1

Canonical transcript: NM_000321

1276 unique variant annotations were identified in 784 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-48878049-CATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAACC-C c.1_59del p.Met1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion,CdsStopDeletion 1/27 - 1
13-48878054-G-A c.6G>A p.Pro2Pro Synonymous 1/27 - 2
13-48878054-G-C c.6G>C p.Pro2Pro Synonymous 1/27 - 2
13-48878054-G-T c.6G>T p.Pro2Pro Synonymous 1/27 - 2
13-48878058-A-T c.10A>T p.Lys4* Nonsense 1/27 - 1
13-48878061-A-C c.13A>C p.Thr5Pro Missense 1/27 - 1
13-48878063-C-T c.15C>T p.Thr5Thr Synonymous 1/27 - 1
13-48878067-C-CC c.19dup p.Arg7Profs*24 Frameshift 1/27 - 1
13-48878068-G-C c.20G>C p.Arg7Pro Missense 1/27 - 1
13-48878072-A-C c.24A>C p.Lys8Asn Missense 1/27 - 1
13-48878072-A-T c.24A>T p.Lys8Asn Missense 1/27 - 1
13-48878073-A-AA c.25dup p.Thr9Asnfs*22 Frameshift 1/27 - 1
13-48878076-G-C c.28G>C p.Ala10Pro Missense 1/27 - 1
13-48878079-GC-TT c.31_32delinsTT p.Ala11Phe Missense 1/27 - 1
13-48878079-G-T c.31G>T p.Ala11Ser Missense 1/27 - 1
13-48878080-C-A c.32C>A p.Ala11Asp Missense 1/27 - 1
13-48878082-A-C c.34A>C p.Thr12Pro Missense 1/27 - 1
13-48878089-C-A c.41C>A p.Ala14Asp Missense 1/27 - 1
13-48878091-GC-TT c.43_44delinsTT p.Ala15Phe Missense 1/27 - 1
13-48878091-GCT-TAA c.43_45delinsTAA p.Ala15* Nonsense 1/27 - 1
13-48878093-CTGCCGCCGCGGAACCCCCGGCACCGCCGC-C c.45_73del p.Ala18Profs*3 Frameshift 1/27 - 1
13-48878093-CTGCCGCCGCGGAACCCCCGGCACCGCCGCCGC-C c.45_76del p.Ala17Profs*3 Frameshift 1/27 - 1
13-48878096-C-A c.48C>A p.Ala16Ala Synonymous 1/27 - 1
13-48878096-C-G c.48C>G p.Ala16Ala Synonymous 1/27 - 1
13-48878096-C-T c.48C>T p.Ala16Ala Synonymous 1/27 - 1
13-48878097-GC-TA c.49_50delinsTA p.Ala17Tyr Missense 1/27 - 1
13-48878100-CGCGGAACCCCCGGCACCGCCGCCGCCGCC-C c.52_80del p.Ala18Profs*3 Frameshift 1/27 - 1
13-48878100-G-A c.52G>A p.Ala18Thr Missense 1/27 - 2
13-48878100-GC-CT c.52_53delinsCT p.Ala18Leu Missense 1/27 - 1
13-48878100-G-T c.52G>T p.Ala18Ser Missense 1/27 - 1
13-48878101-C-G c.53C>G p.Ala18Gly Missense 1/27 - 1
13-48878101-GCGG-G c.53_55del p.Ala18del InFrameDeletion 1/27 - 2
13-48878102-CGGAACCCCCGGCACCGCCGCCGC-C c.54_76del p.Glu19Alafs*4 Frameshift 1/27 - 1
13-48878102-CGGAACCCCCGGCACCGCCGCCGCCGC-C c.54_79del p.Glu19Profs*3 Frameshift 1/27 - 1
13-48878103-GGAA-G c.55_57del p.Glu19del InFrameDeletion 1/27 - 3
13-48878103-GG-G c.55del p.Glu19Asnfs*46 Frameshift 1/27 - 1
13-48878103-G-T c.55G>T p.Glu19* Nonsense 1/27 - 1
13-48878107-C-T c.59C>T p.Pro20Leu Missense 1/27 - 1
13-48878109-C-G c.61C>G p.Pro21Ala Missense 1/27 - 1
13-48878110-CC-C c.62del p.Pro21Argfs*44 Frameshift 1/27 - 3
13-48878112-G-C c.64G>C p.Ala22Pro Missense 1/27 - 1
13-48878112-G-GG c.64dup p.Ala22Glyfs*9 Frameshift 1/27 - 1
13-48878116-CG-AT c.68_69delinsAT p.Pro23His Missense 1/27 - 1
13-48878118-C-T c.70C>T p.Pro24Ser Missense 1/27 - 1
13-48878128-C-T c.80C>T p.Pro27Leu Missense 1/27 - 1
13-48878131-CC-C c.83del p.Pro28Leufs*37 Frameshift 1/27 - 1
13-48878131-C-G c.83C>G p.Pro28Arg Missense 1/27 - 1
13-48878131-C-T c.83C>T p.Pro28Leu Missense 1/27 - 1
13-48878133-C-T c.85C>T p.Pro29Ser Missense 1/27 - 3
13-48878133-TCCT-T c.85_87del p.Pro29del InFrameDeletion 1/27 - 1
13-48878134-C-CC c.86dup p.Glu30* Nonsense 1/27 - 3
13-48878134-C-T c.86C>T p.Pro29Leu Missense 1/27 - 1
13-48878136-GAG-TGT c.88_90delinsTGT p.Glu30Cys Missense 1/27 - 1
13-48878138-G-A c.90G>A p.Glu30Glu Synonymous 1/27 - 1
13-48878139-G-T c.91G>T p.Glu31* Nonsense 1/27 - 2
13-48878140-GAG-G c.92_93del p.Glu31Glyfs*17 Frameshift 1/27 - 1
13-48878142-GA-TT c.94_95delinsTT p.Asp32Phe Missense 1/27 - 1
13-48878142-G-T c.94G>T p.Asp32Tyr Missense 1/27 - 1
13-48878143-A-G c.95A>G p.Asp32Gly Missense 1/27 - 1
13-48878143-A-T c.95A>T p.Asp32Val Missense 1/27 - 1
13-48878145-C-G c.97C>G p.Pro33Ala Missense 1/27 - 1
13-48878151-C-T c.103C>T p.Gln35* Nonsense 1/27 - 2
13-48878154-G-A c.106G>A p.Asp36Asn Missense 1/27 - 2
13-48878157-AG-GC c.109_110delinsGC p.Ser37Ala Missense 1/27 - 1
13-48878157-AG-TT c.109_110delinsTT p.Ser37Phe Missense 1/27 - 1
13-48878157-A-T c.109A>T p.Ser37Cys Missense 1/27 - 1
13-48878160-GGC-TGG c.112_114delinsTGG p.Gly38Trp Missense 1/27 - 1
13-48878167-A-G c.119A>G p.Glu40Gly Missense 1/27 - 1
13-48878179-T-TTT c.131_132insTT p.Val45Serfs*21 Frameshift 1/27 - 1
13-48878185-G-A c.137G>A p.Arg46Lys Missense 1/27 - 1
13-48878185-G-C c.137G>C p.Arg46Thr Missense 1/27 - 1
13-48878186-G-A c.137+1G>A - IntronicSNV - 1/26 1
13-48878271-T-A c.137+86T>A - IntronicSNV - 1/26 3
13-48878271-T-C c.137+86T>C - IntronicSNV - 1/26 4
13-48878279-C-T c.137+94C>T - IntronicSNV - 1/26 2
13-48878292-G-A c.137+107G>A - IntronicSNV - 1/26 6
13-48881154-G-A c.138-262G>A - IntronicSNV - 1/26 8
13-48881154-G-C c.138-262G>C - IntronicSNV - 1/26 8
13-48881408-T-G c.138-8T>G - IntronicSNV - 1/26 1
13-48881414-A-G c.138-2A>G - IntronicSNV - 1/26 1
13-48881417-CTT-GAG c.139_141delinsGAG p.Leu47Glu Missense 2/27 - 1
13-48881420-GA-CC c.142_143delinsCC p.Glu48Pro Missense 2/27 - 1
13-48881420-TGAGTTTGAAGAAACAGAAGAACCTGATTT-T c.142_170del p.Glu48Tyrfs*52 Frameshift 2/27 - 1
13-48881421-A-G c.143A>G p.Glu48Gly Missense 2/27 - 1
13-48881425-TT-T c.147del p.Phe49Leufs*16 Frameshift 2/27 - 2
13-48881426-GAA-TGT c.148_150delinsTGT p.Glu50Cys Missense 2/27 - 1
13-48881426-G-T c.148G>T p.Glu50* Nonsense 2/27 - 2
13-48881429-G-T c.151G>T p.Glu51* Nonsense 2/27 - 1
13-48881435-G-A c.157G>A p.Glu53Lys Missense 2/27 - 1
13-48881438-G-T c.160G>T p.Glu54* Nonsense 2/27 - 5
13-48881443-T-A c.165T>A p.Pro55Pro Synonymous 2/27 - 1
13-48881443-T-C c.165T>C p.Pro55Pro Synonymous 2/27 - 1
13-48881443-T-G c.165T>G p.Pro55Pro Synonymous 2/27 - 1
13-48881445-A-C c.167A>C p.Asp56Ala Missense 2/27 - 2
13-48881446-T-C c.168T>C p.Asp56Asp Synonymous 2/27 - 1
13-48881447-T-A c.169T>A p.Phe57Ile Missense 2/27 - 1
13-48881448-T-A c.170T>A p.Phe57Tyr Missense 2/27 - 1
13-48881450-A-G c.172A>G p.Thr58Ala Missense 2/27 - 6
13-48881453-GCA-TGT c.175_177delinsTGT p.Ala59Cys Missense 2/27 - 1
13-48881453-TG-T c.175del p.Ala59Hisfs*6 Frameshift 2/27 - 1
13-48881454-CA-AC c.176_177delinsAC p.Ala59Asp Missense 2/27 - 1
13-48881456-TT-CC c.178_179delinsCC p.Leu60Pro Missense 2/27 - 1
13-48881457-T-A c.179T>A p.Leu60* Nonsense 2/27 - 1
13-48881457-TTATGT-T c.179_183del p.Leu60Serfs*48 Frameshift 2/27 - 1
13-48881459-TG-GA c.181_182delinsGA p.Cys61Asp Missense 2/27 - 1
13-48881459-TG-GC c.181_182delinsGC p.Cys61Ala Missense 2/27 - 1
13-48881462-C-T c.184C>T p.Gln62* Nonsense 2/27 - 4
13-48881463-A-G c.185A>G p.Gln62Arg Missense 2/27 - 1
13-48881466-AAA-A c.188_189del p.Lys63Ilefs*46 Frameshift 2/27 - 1
13-48881466-A-G c.188A>G p.Lys63Arg Missense 2/27 - 1
13-48881469-TT-T c.191del p.Leu64* Frameshift 2/27 - 1
13-48881471-A-T c.193A>T p.Lys65* Nonsense 2/27 - 1
13-48881478-CC-C c.200del p.Pro67Glnfs*10 Frameshift 2/27 - 1
13-48881483-CA-AG c.205_206delinsAG p.His69Ser Missense 2/27 - 1
13-48881483-CA-GC c.205_206delinsGC p.His69Ala Missense 2/27 - 1
13-48881483-CA-GT c.205_206delinsGT p.His69Val Missense 2/27 - 2
13-48881484-A-C c.206A>C p.His69Pro Missense 2/27 - 1
13-48881487-T-G c.209T>G p.Val70Gly Missense 2/27 - 1
13-48881489-A-AAG c.211_212insAG p.Arg71Lysfs*7 Frameshift 2/27 - 1
13-48881489-AG-CT c.211_212inv p.Arg71Leu Missense 2/27 - 1
13-48881492-G-C c.214G>C p.Glu72Gln Missense 2/27 - 1
13-48881492-G-T c.214G>T p.Glu72* Nonsense 2/27 - 2
13-48881495-A-G c.217A>G p.Arg73Gly Missense 2/27 - 1
13-48881495-GAGAG-G c.217_220del p.Arg73Leufs*3 Frameshift 2/27 - 1
13-48881497-GAG-G c.219_220del p.Arg73Serfs*36 Frameshift 2/27 - 2
13-48881498-AGC-A c.220_221del p.Ala74Leufs*35 Frameshift 2/27 - 2
13-48881498-GC-CG c.220_221delinsCG p.Ala74Arg Missense 2/27 - 1
13-48881498-GC-TG c.220_221delinsTG p.Ala74Cys Missense 2/27 - 1
13-48881502-G-A c.224G>A p.Trp75* Nonsense 2/27 - 3
13-48881503-G-A c.225G>A p.Trp75* Nonsense 2/27 - 2
13-48881507-AC-CA c.229_230delinsCA p.Thr77His Missense 2/27 - 1
13-48881507-ACT-TAA c.229_231delinsTAA p.Thr77* Nonsense 2/27 - 1
13-48881510-TG-AC c.232_233delinsAC p.Trp78Thr Missense 2/27 - 1
13-48881511-G-A c.233G>A p.Trp78* Nonsense 2/27 - 2
13-48881513-G-A c.235G>A p.Glu79Lys Missense 2/27 - 1
13-48881515-G-C c.237G>C p.Glu79Asp Missense 2/27 - 1
13-48881515-G-T c.237G>T p.Glu79Asp Missense 2/27 - 1
13-48881523-C-A c.245C>A p.Ser82* Nonsense 2/27 - 3
13-48881523-CA-AT c.245_246delinsAT p.Ser82Tyr Missense 2/27 - 1
13-48881523-C-G c.245C>G p.Ser82* Nonsense 2/27 - 3
13-48881524-A-C c.246A>C p.Ser82Ser Synonymous 2/27 - 1
13-48881524-A-G c.246A>G p.Ser82Ser Synonymous 2/27 - 1
13-48881524-A-T c.246A>T p.Ser82Ser Synonymous 2/27 - 1
13-48881534-G-A c.256G>A p.Gly86Arg Missense 2/27 - 1
13-48881534-G-C c.256G>C p.Gly86Arg Missense 2/27 - 1
13-48881534-G-T c.256G>T p.Gly86* Nonsense 2/27 - 1
13-48881540-T-C c.262T>C p.Leu88Leu Synonymous 2/27 - 1
13-48881542-G-A c.264G>A p.Leu88Leu Synonymous 2/27 - 1
13-48881543-GG-G c.264+1del - Frameshift - 2/26 1
13-48881544-T-A c.264+2T>A - IntronicSNV - 2/26 1
13-48881544-T-C c.264+2T>C - IntronicSNV - 2/26 1
13-48881547-G-A c.264+5G>A - IntronicSNV - 2/26 1
13-48881617-T-C c.264+75T>C - IntronicSNV - 2/26 3
13-48882363-A-G c.264+821A>G - IntronicSNV - 2/26 4
13-48886282-G-A c.264+4740G>A - IntronicSNV - 2/26 1
13-48891236-A-G c.264+9694A>G - IntronicSNV - 2/26 7
13-48892992-T-G c.264+11450T>G - IntronicSNV - 2/26 1
13-48894425-G-A c.264+12883G>A - IntronicSNV - 2/26 1
13-48895804-T-A c.264+14262T>A - IntronicSNV - 2/26 1
13-48895804-T-C c.264+14262T>C - IntronicSNV - 2/26 1
13-48901375-C-G c.265-15360C>G - IntronicSNV - 2/26 1
13-48916733-A-G c.265-2A>G - IntronicSNV - 2/26 1
13-48916734-G-T c.265-1G>T - IntronicSNV - 2/26 1
13-48916736-GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTT-G c.268_326del p.Gly90Profs*3 Unclassified 3/27 - 1
13-48916738-AGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTTGA-A c.268_326del p.Gly90Profs*3 Multi:SpliceAcceptorDeletion,CdsStopDeletion 3/27 - 2
13-48916739-G-A c.269G>A p.Gly90Asp Missense 3/27 - 1
13-48916739-G-C c.269G>C p.Gly90Ala Missense 3/27 - 1
13-48916744-TA-T c.274del p.Ile92Phefs*19 Frameshift 3/27 - 1
13-48916747-C-T c.277C>T p.Gln93* Nonsense 3/27 - 2
13-48916750-A-T c.280A>T p.Lys94* Nonsense 3/27 - 1
13-48916751-A-T c.281A>T p.Lys94Met Missense 3/27 - 1
13-48916752-G-A c.282G>A p.Lys94Lys Synonymous 3/27 - 1
13-48916759-G-C c.289G>C p.Glu97Gln Missense 3/27 - 1
13-48916759-G-T c.289G>T p.Glu97* Nonsense 3/27 - 1
13-48916767-G-A c.297G>A p.Trp99* Nonsense 3/27 - 6
13-48916768-GGA-TGT c.298_300delinsTGT p.Gly100Cys Missense 3/27 - 1
13-48916768-G-T c.298G>T p.Gly100* Nonsense 3/27 - 2
13-48916771-AA-A c.301del p.Ile101Serfs*10 Frameshift 3/27 - 1
13-48916771-A-G c.301A>G p.Ile101Val Missense 3/27 - 1
13-48916772-T-C c.302T>C p.Ile101Thr Missense 3/27 - 1
13-48916780-T-C c.310T>C p.Phe104Leu Missense 3/27 - 1
13-48916787-C-T c.317C>T p.Ala106Val Missense 3/27 - 1
13-48916788-CAGCAGTTGACCTAGATGAGATG-C c.318_339del p.Ala107Argfs*11 Frameshift 3/27 - 1
13-48916791-CAG-C c.321_322del p.Val108* Frameshift 3/27 - 1
13-48916794-TT-T c.324del p.Asp109Thrfs*2 Frameshift 3/27 - 1
13-48916795-GAC-TAA c.325_327delinsTAA p.Asp109* Nonsense 3/27 - 1
13-48916798-CCTAGA-C c.328_332del p.Leu110* Frameshift 3/27 - 1
13-48916798-C-T c.328C>T p.Leu110Leu Synonymous 3/27 - 1
13-48916798-CTA-TTT c.328_330delinsTTT p.Leu110Phe Missense 3/27 - 1
13-48916802-GA-G c.332del p.Asp111Valfs*14 Frameshift 3/27 - 1
13-48916803-AT-A c.333del p.Asp111Glufs*14 Frameshift 3/27 - 1
13-48916803-ATGAG-A c.333_336del p.Asp111Glufs*13 Frameshift 3/27 - 1
13-48916804-G-A c.334G>A p.Glu112Lys Missense 3/27 - 1
13-48916804-G-T c.334G>T p.Glu112* Nonsense 3/27 - 1
13-48916806-G-A c.336G>A p.Glu112Glu Synonymous 3/27 - 1
13-48916811-C-A c.341C>A p.Ser114* Nonsense 3/27 - 1
13-48916811-C-T c.341C>T p.Ser114Leu Missense 3/27 - 2
13-48916813-GTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAGGTAA-G c.343_380+4del - SpliceDonorDeletion 3/27 3/26 1
13-48916816-CACTT-C c.346_349del p.Thr116Leufs*8 Frameshift 3/27 - 2
13-48916822-TA-T c.352del p.Thr118Leufs*7 Frameshift 3/27 - 1
13-48916825-G-C c.355G>C p.Glu119Gln Missense 3/27 - 1
13-48916831-C-T c.361C>T p.Gln121* Nonsense 3/27 - 2
13-48916841-ATA-A c.371_372del p.Ile124Argfs*6 Frameshift 3/27 - 1
13-48916843-G-T c.373G>T p.Glu125* Nonsense 3/27 - 1
13-48916846-AATCAG-A c.376_380del p.Ile126Cysfs*3 SpliceDonorDeletion 3/27 - 1
13-48916847-T-G c.377T>G p.Ile126Ser Missense 3/27 - 1
13-48916849-AG-GC c.379_380delinsGC p.Ser127Ala Missense 3/27 - 1
13-48916849-CA-C c.379del p.Ser127Valfs*9 Frameshift 3/27 - 1
13-48916850-G-A c.380G>A p.Ser127Asn Missense 3/27 - 1
13-48916850-G-C c.380G>C p.Ser127Thr Missense 3/27 - 1
13-48916851-G-T c.380+1G>T - IntronicSNV - 3/26 1
13-48916860-C-G c.380+10C>G - IntronicSNV - 3/26 1
13-48916862-T-C c.380+12T>C - IntronicSNV - 3/26 1
13-48916887-A-G c.380+37A>G - IntronicSNV - 3/26 3
13-48916895-C-G c.380+45C>G - IntronicSNV - 3/26 4
13-48916895-C-T c.380+45C>T - IntronicSNV - 3/26 6
13-48917673-A-G c.380+823A>G - IntronicSNV - 3/26 1
13-48918174-C-G c.381-1042C>G - IntronicSNV - 3/26 1
13-48919064-A-C c.381-152A>C - IntronicSNV - 3/26 1
13-48919064-A-G c.381-152A>G - IntronicSNV - 3/26 1
13-48919214-A-G c.381-2A>G - IntronicSNV - 3/26 1
13-48919216-T-C c.381T>C p.Ser127Ser Synonymous 4/27 - 1
13-48919223-A-T c.388A>T p.Lys130* Nonsense 4/27 - 1
13-48919224-A-T c.389A>T p.Lys130Ile Missense 4/27 - 1
13-48919225-AA-A c.390del p.Lys130Asnfs*6 Frameshift 4/27 - 1
13-48919228-C-A c.393C>A p.Phe131Leu Missense 4/27 - 1
13-48919232-A-C c.397A>C p.Asn133His Missense 4/27 - 1
13-48919233-AA-A c.398del p.Asn133Thrfs*3 Frameshift 4/27 - 1
13-48919235-CTTACTAAA-C c.400_407del p.Leu134Argfs*3 Frameshift 4/27 - 1
13-48919239-T-C c.404T>C p.Leu135Pro Missense 4/27 - 1
13-48919244-AGAAA-A c.409_412del p.Glu137Leufs*15 Frameshift 4/27 - 1
13-48919244-G-T c.409G>T p.Glu137* Nonsense 4/27 - 13
13-48919246-A-T c.411A>T p.Glu137Asp Missense 4/27 - 12
13-48919255-C-CT c.420_421insT p.Ser141* Nonsense 4/27 - 1
13-48919260-ACCAA-A c.425_428del p.Thr142Lysfs*10 Frameshift 4/27 - 1
13-48919260-C-T c.425C>T p.Thr142Ile Missense 4/27 - 1
13-48919273-T-C c.438T>C p.Asn146Asn Synonymous 4/27 - 1
13-48919274-G-T c.439G>T p.Ala147Ser Missense 4/27 - 1
13-48919281-C-A c.446C>A p.Ser149* Nonsense 4/27 - 3
13-48919281-C-G c.446C>G p.Ser149* Nonsense 4/27 - 3
13-48919286-CTG-TTT c.451_453delinsTTT p.Leu151Phe Missense 4/27 - 1
13-48919293-A-G c.458A>G p.Lys153Arg Missense 4/27 - 1
13-48919295-A-T c.460A>T p.Lys154* Nonsense 4/27 - 2
13-48919300-T-A c.465T>A p.Tyr155* Nonsense 4/27 - 1
13-48919300-T-TT c.465dup p.Asp156* Nonsense 4/27 - 2
13-48919301-TG-T c.466del p.Asp156Metfs*19 Frameshift 4/27 - 3
13-48919304-G-C c.469G>C p.Val157Leu Missense 4/27 - 1
13-48919304-G-T c.469G>T p.Val157Leu Missense 4/27 - 1
13-48919308-T-A c.473T>A p.Leu158* Nonsense 4/27 - 1
13-48919317-T-A c.482T>A p.Leu161His Missense 4/27 - 1
13-48919322-AG-TA c.487_488delinsTA p.Ser163Tyr Missense 4/27 - 1
13-48919324-C-T c.489C>T p.Ser163Ser Synonymous 4/27 - 1
13-48919329-T-A c.494T>A p.Leu165* Nonsense 4/27 - 1
13-48919330-G-A c.495G>A p.Leu165Leu Synonymous 4/27 - 1
13-48919331-G-T c.496G>T p.Glu166* Nonsense 4/27 - 2
13-48919358-T-G c.500+23T>G - IntronicSNV - 4/26 5
13-48919381-A-G c.500+46A>G - IntronicSNV - 4/26 1
13-48919851-C-T c.500+516C>T - IntronicSNV - 4/26 1
13-48919923-T-C c.500+588T>C - IntronicSNV - 4/26 7
13-48921884-A-G c.501-77A>G - IntronicSNV - 4/26 2
13-48921923-G-A c.501-38G>A - IntronicSNV - 4/26 3
13-48921923-G-C c.501-38G>C - IntronicSNV - 4/26 3
13-48921946-T-G c.501-15T>G - IntronicSNV - 4/26 1
13-48921960-G-A c.501-1G>A - IntronicSNV - 4/26 2
13-48921964-A-T c.504A>T p.Thr168Thr Synonymous 5/27 - 1
13-48921965-TG-AC c.505_506delinsAC p.Cys169Thr Missense 5/27 - 1
13-48921968-G-T c.508G>T p.Glu170* Nonsense 5/27 - 2
13-48921970-A-C c.510A>C p.Glu170Asp Missense 5/27 - 1
13-48921970-A-T c.510A>T p.Glu170Asp Missense 5/27 - 1
13-48921981-T-A c.521T>A p.Leu174* Nonsense 5/27 - 1
13-48921992-AGC-TGA c.532_534delinsTGA p.Ser178* Nonsense 5/27 - 1
13-48921996-G-A c.536G>A p.Ser179Asn Missense 5/27 - 1
13-48921996-G-C c.536G>C p.Ser179Thr Missense 5/27 - 1
13-48921999-C-T c.539C>T p.Ser180Leu Missense 5/27 - 1
13-48922000-G-A c.539+1G>A - IntronicSNV - 5/26 1
13-48923093-A-G c.541A>G p.Ile181Val Missense 6/27 - 1
13-48923095-A-G c.543A>G p.Ile181Met Missense 6/27 - 1
13-48923096-T-G c.544T>G p.Ser182Ala Missense 6/27 - 1
13-48923097-C-A c.545C>A p.Ser182Tyr Missense 6/27 - 1
13-48923102-G-C c.550G>C p.Glu184Gln Missense 6/27 - 1
13-48923106-T-C c.554T>C p.Ile185Thr Missense 6/27 - 1
13-48923107-A-G c.555A>G p.Ile185Met Missense 6/27 - 1
13-48923109-A-AA c.557dup p.Asn186Lysfs*17 Frameshift 6/27 - 1
13-48923116-A-G c.564A>G p.Ala188Ala Synonymous 6/27 - 1
13-48923117-ATTGGTGCT-A c.565_572del p.Leu189Lysfs*11 Frameshift 6/27 - 1
13-48923120-G-A c.568G>A p.Val190Met Missense 6/27 - 1
13-48923123-CTA-ATG c.571_573delinsATG p.Leu191Met Missense 6/27 - 1
13-48923123-C-T c.571C>T p.Leu191Leu Synonymous 6/27 - 1
13-48923125-A-C c.573A>C p.Leu191Leu Synonymous 6/27 - 1
13-48923125-A-G c.573A>G p.Leu191Leu Synonymous 6/27 - 1
13-48923125-A-T c.573A>T p.Leu191Leu Synonymous 6/27 - 1
13-48923126-A-G c.574A>G p.Lys192Glu Missense 6/27 - 1
13-48923126-A-T c.574A>T p.Lys192* Nonsense 6/27 - 1
13-48923132-T-C c.580T>C p.Ser194Pro Missense 6/27 - 1
13-48923136-G-A c.584G>A p.Trp195* Nonsense 6/27 - 3
13-48923136-G-T c.584G>T p.Trp195Leu Missense 6/27 - 1
13-48923137-G-A c.585G>A p.Trp195* Nonsense 6/27 - 4
13-48923144-T-C c.592T>C p.Phe198Leu Missense 6/27 - 1
13-48923146-T-A c.594T>A p.Phe198Leu Missense 6/27 - 1
13-48923146-T-G c.594T>G p.Phe198Leu Missense 6/27 - 1
13-48923148-T-A c.596T>A p.Leu199* Nonsense 6/27 - 9
13-48923148-T-G c.596T>G p.Leu199* Nonsense 6/27 - 7
13-48923152-A-AT c.600_601insT p.Ala201Cysfs*2 Frameshift 6/27 - 1
13-48923153-G-C c.601G>C p.Ala201Pro Missense 6/27 - 1
13-48923154-C-A c.602C>A p.Ala201Asp Missense 6/27 - 2
13-48923155-T-TG c.603_604insG p.Lys202Glufs*10 Frameshift 6/27 - 1
13-48923156-A-T c.604A>T p.Lys202* Nonsense 6/27 - 1
13-48923158-A-AA c.606dup p.Gly203Argfs*9 SpliceDonorInsertion 6/27 - 2
13-48923158-A-AC c.606_607insC p.Gly203Argfs*9 SpliceDonorInsertion 6/27 - 2
13-48923158-A-AT c.606_607insT p.Gly203Trpfs*9 SpliceDonorInsertion 6/27 - 2
13-48923160-G-A c.607+1G>A - IntronicSNV - 6/26 1
13-48923160-G-C c.607+1G>C - IntronicSNV - 6/26 4
13-48923160-G-T c.607+1G>T - IntronicSNV - 6/26 7
13-48923161-T-G c.607+2T>G - IntronicSNV - 6/26 2
13-48923220-C-A c.607+61C>A - IntronicSNV - 6/26 1
13-48923808-A-G c.607+649A>G - IntronicSNV - 6/26 1
13-48931979-T-C c.608-2174T>C - IntronicSNV - 6/26 4
13-48934151-A-T c.608-2A>T - IntronicSNV - 6/26 1
13-48934152-G-T c.608-1G>T - IntronicSNV - 6/26 1
13-48934155-GG-G c.610del p.Glu204Lysfs*10 Frameshift 7/27 - 2
13-48934155-G-T c.610G>T p.Glu204* Nonsense 7/27 - 2
13-48934162-T-C c.617T>C p.Leu206Ser Missense 7/27 - 1
13-48934163-A-AA c.618dup p.Gln207Thrfs*5 Frameshift 7/27 - 1
13-48934171-A-C c.626A>C p.Glu209Ala Missense 7/27 - 1
13-48934171-A-T c.626A>T p.Glu209Val Missense 7/27 - 1
13-48934173-G-A c.628G>A p.Asp210Asn Missense 7/27 - 1
13-48934182-G-C c.637G>C p.Val213Leu Missense 7/27 - 1
13-48934182-G-T c.637G>T p.Val213Leu Missense 7/27 - 1
13-48934185-A-G c.640A>G p.Ile214Val Missense 7/27 - 1
13-48934185-GA-G c.640del p.Ile214Phefs*5 Frameshift 7/27 - 1
13-48934189-C-T c.644C>T p.Ser215Leu Missense 7/27 - 2
13-48934194-C-T c.649C>T p.Gln217* Nonsense 7/27 - 5
13-48934197-T-G c.652T>G p.Leu218Val Missense 7/27 - 1
13-48934198-TT-T c.653del p.Leu218* Frameshift 7/27 - 1
13-48934201-T-C c.656T>C p.Met219Thr Missense 7/27 - 1
13-48934203-C-G c.658C>G p.Leu220Val Missense 7/27 - 4
13-48934204-T-C c.659T>C p.Leu220Pro Missense 7/27 - 3
13-48934205-TAT-T c.660_661del p.Val222Profs*2 Frameshift 7/27 - 1
13-48934207-TGTGTCCTTGACTATTTTAT-T c.662_680del p.Cys221Leufs*37 Frameshift 7/27 - 1
13-48934212-C-A c.667C>A p.Leu223Ile Missense 7/27 - 1
13-48934214-T-A c.669T>A p.Leu223Leu Synonymous 7/27 - 1
13-48934214-T-C c.669T>C p.Leu223Leu Synonymous 7/27 - 1
13-48934214-T-G c.669T>G p.Leu223Leu Synonymous 7/27 - 1
13-48934215-G-A c.670G>A p.Asp224Asn Missense 7/27 - 1
13-48934225-T-A c.680T>A p.Ile227Asn Missense 7/27 - 1
13-48934234-C-A c.689C>A p.Ser230* Nonsense 7/27 - 2
13-48934234-C-G c.689C>G p.Ser230* Nonsense 7/27 - 2
13-48934235-A-C c.690A>C p.Ser230Ser Synonymous 7/27 - 1
13-48934235-A-G c.690A>G p.Ser230Ser Synonymous 7/27 - 1
13-48934235-A-T c.690A>T p.Ser230Ser Synonymous 7/27 - 1
13-48934236-C-T c.691C>T p.Pro231Ser Missense 7/27 - 1
13-48934245-TT-GC c.700_701delinsGC p.Leu234Ala Missense 7/27 - 1
13-48934246-T-A c.701T>A p.Leu234* Nonsense 7/27 - 1
13-48934248-CT-GC c.703_704delinsGC p.Leu235Ala Missense 7/27 - 1
13-48934254-G-A c.709G>A p.Glu237Lys Missense 7/27 - 1
13-48934254-G-GT c.709_710insT p.Glu237Valfs*4 Frameshift 7/27 - 1
13-48934254-G-T c.709G>T p.Glu237* Nonsense 7/27 - 1
13-48934256-A-G c.711A>G p.Glu237Glu Synonymous 7/27 - 1
13-48934258-CC-C c.713del p.Pro238Hisfs*26 Frameshift 7/27 - 1
13-48934262-T-TT c.717dup p.Lys240* SpliceDonorInsertion 7/27 - 1
13-48934275-A-G c.718+12A>G - IntronicSNV - 7/26 1
13-48934298-A-T c.718+35A>T - IntronicSNV - 7/26 1
13-48934378-ACATGGACTTTGCCCATAAGTAGTGTAAGTTATAGAAGGAAAGATAAGACATGGAAACAA-A c.718+115_718+173del - Unclassified - 7/26 1
13-48934575-A-G c.718+312A>G - IntronicSNV - 7/26 1
13-48934575-A-T c.718+312A>T - IntronicSNV - 7/26 1
13-48936942-C-G c.719-9C>G - IntronicSNV - 7/26 2
13-48936965-C-G c.733C>G p.Pro245Ala Missense 8/27 - 1
13-48936972-A-T c.740A>T p.Asn247Ile Missense 8/27 - 1
13-48936977-TCA-GAC c.745_747delinsGAC p.Ser249Asp Missense 8/27 - 1
13-48936977-T-G c.745T>G p.Ser249Ala Missense 8/27 - 1
13-48936978-C-A c.746C>A p.Ser249* Nonsense 8/27 - 1
13-48936978-C-G c.746C>G p.Ser249* Nonsense 8/27 - 1
13-48936980-C-T c.748C>T p.Pro250Ser Missense 8/27 - 1
13-48936981-C-T c.749C>T p.Pro250Leu Missense 8/27 - 1
13-48936983-C-T c.751C>T p.Arg251* Nonsense 8/27 - 28
13-48936984-G-A c.752G>A p.Arg251Gln Missense 8/27 - 1
13-48936986-AC-GG c.754_755delinsGG p.Thr252Gly Missense 8/27 - 1
13-48936992-AGG-CAT c.760_762delinsCAT p.Arg254His Missense 8/27 - 1
13-48936995-C-T c.763C>T p.Arg255* Nonsense 8/27 - 21
13-48937001-C-T c.769C>T p.Gln257* Nonsense 8/27 - 3
13-48937003-G-A c.771G>A p.Gln257Gln Synonymous 8/27 - 1
13-48937004-GAACAG-G c.772_776del p.Asn258Glufs*11 Frameshift 8/27 - 3
13-48937016-C-T c.784C>T p.Arg262Trp Missense 8/27 - 1
13-48937017-G-A c.785G>A p.Arg262Gln Missense 8/27 - 1
13-48937020-T-C c.788T>C p.Ile263Thr Missense 8/27 - 1
13-48937027-AACAA-A c.795_798del p.Lys265Asnfs*2 Frameshift 8/27 - 1
13-48937031-C-G c.799C>G p.Leu267Val Missense 8/27 - 1
13-48937037-AAA-A c.805_806del p.Asn269* Frameshift 8/27 - 1
13-48937046-AGA-TGT c.814_816delinsTGT p.Arg272Cys Missense 8/27 - 1
13-48937046-A-T c.814A>T p.Arg272* Nonsense 8/27 - 1
13-48937055-G-T c.823G>T p.Glu275* Nonsense 8/27 - 2
13-48937061-TC-T c.829del p.Leu277Serfs*9 Frameshift 8/27 - 1
13-48937064-T-A c.832T>A p.Cys278Ser Missense 8/27 - 1
13-48937064-T-TT c.832dup p.Cys278Leufs*2 Frameshift 8/27 - 1
13-48937065-G-C c.833G>C p.Cys278Ser Missense 8/27 - 1
13-48937065-TGT-T c.833_834del p.Cys278* Frameshift 8/27 - 1
13-48937070-AGAA-A c.838_840del p.Glu280del InFrameDeletion 8/27 - 1
13-48937071-A-G c.839A>G p.Glu280Gly Missense 8/27 - 1
13-48937073-C-A c.841C>A p.His281Asn Missense 8/27 - 1
13-48937073-CAT-TAA c.841_843delinsTAA p.His281* Nonsense 8/27 - 1
13-48937076-G-T c.844G>T p.Glu282* Nonsense 8/27 - 1
13-48937080-G-A c.848G>A p.Cys283Tyr Missense 8/27 - 1
13-48937091-G-T c.859G>T p.Glu287* Nonsense 8/27 - 2
13-48937093-G-A c.861G>A p.Glu287Glu Synonymous 8/27 - 1
13-48937093-G-C c.861G>C p.Glu287Asp Missense 8/27 - 2
13-48937095-T-A c.861+2T>A - IntronicSNV - 8/26 1
13-48937095-T-C c.861+2T>C - IntronicSNV - 8/26 2
13-48939020-T-C c.862-10T>C - IntronicSNV - 8/26 2
13-48939028-A-T c.862-2A>T - IntronicSNV - 8/26 1
13-48939030-GG-G c.862del p.Val288* Frameshift 9/27 - 1
13-48939031-GTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACA-G c.864_922del p.Lys289* Multi:SpliceAcceptorDeletion,CdsStopDeletion 9/27 - 1
13-48939037-A-AA c.869dup p.Asn290Lysfs*20 Frameshift 9/27 - 1
13-48939038-T-C c.870T>C p.Asn290Asn Synonymous 9/27 - 1
13-48939039-GTT-ATG c.871_873delinsATG p.Val291Met Missense 9/27 - 1
13-48939049-A-G c.881A>G p.Lys294Arg Missense 9/27 - 1
13-48939060-C-A c.892C>A p.Pro298Thr Missense 9/27 - 1
13-48939061-CC-C c.893del p.Pro298Leufs*3 Frameshift 9/27 - 1
13-48939066-ATG-TTT c.898_900delinsTTT p.Met300Phe Missense 9/27 - 1
13-48939068-G-A c.900G>A p.Met300Ile Missense 9/27 - 1
13-48939068-G-C c.900G>C p.Met300Ile Missense 9/27 - 1
13-48939068-G-T c.900G>T p.Met300Ile Missense 9/27 - 1
13-48939076-T-A c.908T>A p.Leu303His Missense 9/27 - 1
13-48939078-GGA-AGC c.910_912delinsAGC p.Gly304Ser Missense 9/27 - 1
13-48939078-G-T c.910G>T p.Gly304* Nonsense 9/27 - 1
13-48939081-C-A c.913C>A p.Leu305Ile Missense 9/27 - 1
13-48939083-T-A c.915T>A p.Leu305Leu Synonymous 9/27 - 1
13-48939083-T-C c.915T>C p.Leu305Leu Synonymous 9/27 - 1
13-48939083-T-G c.915T>G p.Leu305Leu Synonymous 9/27 - 1
13-48939088-C-T c.920C>T p.Thr307Ile Missense 9/27 - 7
13-48939095-T-C c.927T>C p.Asn309Asn Synonymous 9/27 - 1
13-48939096-G-T c.928G>T p.Gly310* Nonsense 9/27 - 1
13-48939097-G-A c.929G>A p.Gly310Glu Missense 9/27 - 6
13-48939105-G-T c.937G>T p.Glu313* Nonsense 9/27 - 3
13-48939107-G-T c.939G>T p.Glu313Asp Missense 9/27 - 2
13-48941628-A-T c.940-2A>T - IntronicSNV - 9/26 1
13-48941629-G-A c.940-1G>A - IntronicSNV - 9/26 1
13-48941629-G-C c.940-1G>C - IntronicSNV - 9/26 1
13-48941631-T-G c.941T>G p.Val314Gly Missense 10/27 - 1
13-48941632-T-C c.942T>C p.Val314Val Synonymous 10/27 - 1
13-48941637-A-T c.947A>T p.Asn316Ile Missense 10/27 - 1
13-48941641-TTTCT-T c.951_954del p.Ser318Asnfs*13 Frameshift 10/27 - 1
13-48941642-T-G c.952T>G p.Ser318Ala Missense 10/27 - 1
13-48941648-AC-A c.958del p.Arg320Aspfs*12 Frameshift 10/27 - 1
13-48941648-C-G c.958C>G p.Arg320Gly Missense 10/27 - 3
13-48941648-C-T c.958C>T p.Arg320* Nonsense 10/27 - 39
13-48941649-G-A c.959G>A p.Arg320Gln Missense 10/27 - 1
13-48941649-G-T c.959G>T p.Arg320Leu Missense 10/27 - 1
13-48941653-C-A c.963C>A p.Tyr321* Nonsense 10/27 - 4
13-48941653-C-G c.963C>G p.Tyr321* Nonsense 10/27 - 5
13-48941654-G-A c.964G>A p.Glu322Lys Missense 10/27 - 3
13-48941654-G-T c.964G>T p.Glu322* Nonsense 10/27 - 2
13-48941657-G-A c.967G>A p.Glu323Lys Missense 10/27 - 1
13-48941657-GA-TC c.967_968inv p.Glu323Ser Missense 10/27 - 1
13-48941657-G-T c.967G>T p.Glu323* Nonsense 10/27 - 7
13-48941658-A-G c.968A>G p.Glu323Gly Missense 10/27 - 1
13-48941659-A-G c.969A>G p.Glu323Glu Synonymous 10/27 - 1
13-48941665-T-A c.975T>A p.Tyr325* Nonsense 10/27 - 1
13-48941665-T-G c.975T>G p.Tyr325* Nonsense 10/27 - 1
13-48941669-A-G c.979A>G p.Lys327Glu Missense 10/27 - 1
13-48941672-A-G c.982A>G p.Asn328Asp Missense 10/27 - 1
13-48941675-A-G c.985A>G p.Lys329Glu Missense 10/27 - 1
13-48941675-A-T c.985A>T p.Lys329* Nonsense 10/27 - 1
13-48941680-T-A c.990T>A p.Asp330Glu Missense 10/27 - 1
13-48941680-T-G c.990T>G p.Asp330Glu Missense 10/27 - 1
13-48941685-A-G c.995A>G p.Asp332Gly Missense 10/27 - 1
13-48941687-G-A c.997G>A p.Ala333Thr Missense 10/27 - 2
13-48941688-C-T c.998C>T p.Ala333Val Missense 10/27 - 1
13-48941690-AA-A c.1000del p.Arg334Aspfs*15 Frameshift 10/27 - 1
13-48941691-G-T c.1001G>T p.Arg334Ile Missense 10/27 - 1
13-48941692-A-C c.1002A>C p.Arg334Ser Missense 10/27 - 1
13-48941692-A-T c.1002A>T p.Arg334Ser Missense 10/27 - 1
13-48941694-T-A c.1004T>A p.Leu335* Nonsense 10/27 - 2
13-48941695-TA-T c.1005del p.Leu335Phefs*14 Frameshift 10/27 - 1
13-48941705-C-A c.1015C>A p.His339Asn Missense 10/27 - 1
13-48941711-A-T c.1021A>T p.Lys341* Nonsense 10/27 - 1
13-48941717-CTT-ATG c.1027_1029delinsATG p.Leu343Met Missense 10/27 - 1
13-48941717-TCT-T c.1027_1028del p.Leu343Serfs*3 Frameshift 10/27 - 2
13-48941719-T-A c.1029T>A p.Leu343Leu Synonymous 10/27 - 1
13-48941720-C-T c.1030C>T p.Gln344* Nonsense 10/27 - 4
13-48941721-A-C c.1031A>C p.Gln344Pro Missense 10/27 - 1
13-48941725-T-TT c.1035dup p.Asp346* Nonsense 10/27 - 1
13-48941727-A-C c.1037A>C p.Asp346Ala Missense 10/27 - 1
13-48941737-C-T c.1047C>T p.Asp349Asp Synonymous 10/27 - 1
13-48941738-AG-GC c.1048_1049delinsGC p.Ser350Ala Missense 10/27 - 1
13-48941741-GT-G c.1049+2del - IntronicDeletion - 10/26 1
13-48941742-A-G c.1049+3A>G - IntronicSNV - 10/26 1
13-48942009-G-A c.1049+270G>A - IntronicSNV - 10/26 1
13-48942633-A-G c.1050-30A>G - IntronicSNV - 10/26 1
13-48942655-GTTATTTA-G c.1050-8_1050-2del - IntronicDeletion - 10/26 1
13-48942661-A-C c.1050-2A>C - IntronicSNV - 10/26 1
13-48942662-G-C c.1050-1G>C - IntronicSNV - 10/26 1
13-48942667-G-C c.1054G>C p.Glu352Gln Missense 11/27 - 1
13-48942667-G-T c.1054G>T p.Glu352* Nonsense 11/27 - 1
13-48942673-C-T c.1060C>T p.Gln354* Nonsense 11/27 - 3
13-48942674-A-G c.1061A>G p.Gln354Arg Missense 11/27 - 1
13-48942675-G-C c.1062G>C p.Gln354His Missense 11/27 - 1
13-48942675-G-T c.1062G>T p.Gln354His Missense 11/27 - 1
13-48942677-AGA-A c.1064_1065del p.Arg355Asnfs*6 Frameshift 11/27 - 1
13-48942684-A-T c.1071A>T p.Pro357Pro Synonymous 11/27 - 1
13-48942685-C-G c.1072C>G p.Arg358Gly Missense 11/27 - 1
13-48942685-C-T c.1072C>T p.Arg358* Nonsense 11/27 - 39
13-48942688-A-T c.1075A>T p.Lys359* Nonsense 11/27 - 3
13-48942691-A-AA c.1078dup p.Ser360Lysfs*2 Frameshift 11/27 - 1
13-48942691-AA-A c.1078del p.Ser360Valfs*7 Frameshift 11/27 - 1
13-48942693-T-C c.1080T>C p.Ser360Ser Synonymous 11/27 - 1
13-48942703-G-T c.1090G>T p.Glu364* Nonsense 11/27 - 1
13-48942703-TG-T c.1090del p.Glu364Lysfs*3 Frameshift 11/27 - 1
13-48942706-G-A c.1093G>A p.Glu365Lys Missense 11/27 - 1
13-48942710-T-G c.1097T>G p.Val366Gly Missense 11/27 - 1
13-48942713-A-C c.1100A>C p.Asn367Thr Missense 11/27 - 6
13-48942713-A-G c.1100A>G p.Asn367Ser Missense 11/27 - 1
13-48942716-T-TT c.1103dup p.Ile369Asnfs*8 Frameshift 11/27 - 1
13-48942720-T-A c.1107T>A p.Ile369Ile Synonymous 11/27 - 1
13-48942720-T-C c.1107T>C p.Ile369Ile Synonymous 11/27 - 1
13-48942722-C-T c.1109C>T p.Pro370Leu Missense 11/27 - 1
13-48942730-AC-GA c.1117_1118delinsGA p.Thr373Asp Missense 11/27 - 1
13-48942730-ACT-GAG c.1117_1119delinsGAG p.Thr373Glu Missense 11/27 - 2
13-48942730-CACTC-C c.1117_1120del p.Thr373Glnfs*6 Frameshift 11/27 - 1
13-48942736-G-C c.1123G>C p.Val375Leu Missense 11/27 - 1
13-48942736-G-T c.1123G>T p.Val375Phe Missense 11/27 - 2
13-48942814-C-T c.1127+74C>T - IntronicSNV - 11/26 1
13-48945175-G-A c.1128-2366G>A - IntronicSNV - 11/26 7
13-48946712-G-A c.1128-829G>A - IntronicSNV - 11/26 1
13-48947469-G-A c.1128-72G>A - IntronicSNV - 11/26 4
13-48947469-G-T c.1128-72G>T - IntronicSNV - 11/26 4
13-48947503-C-A c.1128-38C>A - IntronicSNV - 11/26 1
13-48947503-C-T c.1128-38C>T - IntronicSNV - 11/26 1
13-48947542-A-T c.1129A>T p.Thr377Ser Missense 12/27 - 2
13-48947550-G-A c.1137G>A p.Met379Ile Missense 12/27 - 2
13-48947550-G-C c.1137G>C p.Met379Ile Missense 12/27 - 2
13-48947550-G-T c.1137G>T p.Met379Ile Missense 12/27 - 2
13-48947553-C-T c.1140C>T p.Asn380Asn Synonymous 12/27 - 1
13-48947560-C-T c.1147C>T p.Gln383* Nonsense 12/27 - 4
13-48947561-CAA-C c.1148_1149del p.Gln383Profs*11 Frameshift 12/27 - 1
13-48947563-C-T c.1150C>T p.Gln384* Nonsense 12/27 - 4
13-48947566-T-C c.1153T>C p.Leu385Leu Synonymous 12/27 - 1
13-48947569-A-AA c.1156dup p.Met386Asnfs*9 Frameshift 12/27 - 1
13-48947576-T-C c.1163T>C p.Ile388Thr Missense 12/27 - 1
13-48947576-T-G c.1163T>G p.Ile388Ser Missense 12/27 - 5
13-48947579-T-A c.1166T>A p.Leu389* Nonsense 12/27 - 3
13-48947582-A-G c.1169A>G p.Asn390Ser Missense 12/27 - 1
13-48947585-C-A c.1172C>A p.Ser391* Nonsense 12/27 - 1
13-48947585-C-G c.1172C>G p.Ser391* Nonsense 12/27 - 1
13-48947586-A-G c.1173A>G p.Ser391Ser Synonymous 12/27 - 1
13-48947587-G-A c.1174G>A p.Ala392Thr Missense 12/27 - 1
13-48947596-C-T c.1183C>T p.Gln395* Nonsense 12/27 - 2
13-48947603-C-A c.1190C>A p.Ser397* Nonsense 12/27 - 2
13-48947607-A-C c.1194A>C p.Glu398Asp Missense 12/27 - 1
13-48947607-A-T c.1194A>T p.Glu398Asp Missense 12/27 - 1
13-48947610-AT-A c.1197del p.Leu400* Frameshift 12/27 - 1
13-48947610-ATCTGATTTCCTATTTTAA-A c.1197_1214del p.Leu400_Asn405del SpliceDonorDeletion 12/27 - 1
13-48947619-C-T c.1206C>T p.Ser402Ser Synonymous 12/27 - 1
13-48947629-G-A c.1215+1G>A - IntronicSNV - 12/26 10
13-48947629-G-T c.1215+1G>T - IntronicSNV - 12/26 1
13-48947631-A-T c.1215+3A>T - IntronicSNV - 12/26 1
13-48948569-A-G c.1215+941A>G - IntronicSNV - 12/26 7
13-48950053-T-C c.1216-1001T>C - IntronicSNV - 12/26 1
13-48951025-A-G c.1216-29A>G - IntronicSNV - 12/26 1
13-48951051-A-G c.1216-3A>G - IntronicSNV - 12/26 1
13-48951053-G-A c.1216-1G>A - IntronicSNV - 12/26 1
13-48951056-ACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCT-A c.1218_1276del p.Cys407* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 13/27 - 1
13-48951063-G-A c.1225G>A p.Val409Met Missense 13/27 - 1
13-48951063-G-C c.1225G>C p.Val409Leu Missense 13/27 - 1
13-48951063-G-T c.1225G>T p.Val409Leu Missense 13/27 - 1
13-48951069-C-G c.1231C>G p.Pro411Ala Missense 13/27 - 1
13-48951069-C-T c.1231C>T p.Pro411Ser Missense 13/27 - 1
13-48951073-AAA-A c.1235_1236del p.Lys412Argfs*15 Frameshift 13/27 - 1
13-48951074-A-C c.1236A>C p.Lys412Asn Missense 13/27 - 1
13-48951074-A-T c.1236A>T p.Lys412Asn Missense 13/27 - 1
13-48951075-G-T c.1237G>T p.Glu413* Nonsense 13/27 - 2
13-48951089-AAA-A c.1251_1252del p.Arg418Serfs*9 Frameshift 13/27 - 2
13-48951090-A-T c.1252A>T p.Arg418* Nonsense 13/27 - 1
13-48951093-G-A c.1255G>A p.Val419Met Missense 13/27 - 1
13-48951096-A-T c.1258A>T p.Lys420* Nonsense 13/27 - 1
13-48951099-G-A c.1261G>A p.Asp421Asn Missense 13/27 - 1
13-48951100-GA-G c.1262del p.Asp421Valfs*2 Frameshift 13/27 - 1
13-48951105-G-T c.1267G>T p.Gly423* Nonsense 13/27 - 1
13-48951110-C-A c.1272C>A p.Tyr424* Nonsense 13/27 - 1
13-48951110-C-G c.1272C>G p.Tyr424* Nonsense 13/27 - 1
13-48951119-AA-A c.1281del p.Glu428Argfs*29 Frameshift 13/27 - 1
13-48951124-A-G c.1286A>G p.Lys429Arg Missense 13/27 - 1
13-48951129-G-A c.1291G>A p.Ala431Thr Missense 13/27 - 1
13-48951137-T-A c.1299T>A p.Ala433Ala Synonymous 13/27 - 1
13-48951137-T-C c.1299T>C p.Ala433Ala Synonymous 13/27 - 1
13-48951137-T-G c.1299T>G p.Ala433Ala Synonymous 13/27 - 1
13-48951144-C-A c.1306C>A p.Gln436Lys Missense 13/27 - 2
13-48951144-C-T c.1306C>T p.Gln436* Nonsense 13/27 - 7
13-48951148-G-T c.1310G>T p.Gly437Val Missense 13/27 - 2
13-48951150-T-G c.1312T>G p.Cys438Gly Missense 13/27 - 1
13-48951150-TT-T c.1312del p.Cys438Valfs*19 Frameshift 13/27 - 1
13-48951156-G-A c.1318G>A p.Glu440Lys Missense 13/27 - 1
13-48951156-G-T c.1318G>T p.Glu440* Nonsense 13/27 - 1
13-48951160-T-C c.1322T>C p.Ile441Thr Missense 13/27 - 1
13-48951162-G-T c.1324G>T p.Gly442* Nonsense 13/27 - 1
13-48951165-T-C c.1327T>C p.Ser443Pro Missense 13/27 - 1
13-48951166-C-A c.1328C>A p.Ser443* Nonsense 13/27 - 2
13-48951168-ACAG-A c.1330_1332del p.Gln444del InFrameDeletion 13/27 - 1
13-48951168-C-T c.1330C>T p.Gln444* Nonsense 13/27 - 3
13-48951169-A-C c.1331A>C p.Gln444Pro Missense 13/27 - 1
13-48951169-A-G c.1331A>G p.Gln444Arg Missense 13/27 - 3
13-48951170-G-A c.1332G>A p.Gln444Gln Synonymous 13/27 - 1
13-48951170-G-C c.1332G>C p.Gln444His Missense 13/27 - 3
13-48951171-G-A c.1332+1G>A - IntronicSNV - 13/26 1
13-48951238-T-A c.1332+68T>A - IntronicSNV - 13/26 2
13-48953655-C-A c.1333-75C>A - IntronicSNV - 13/26 1
13-48953707-ATTTTTCTTTTT-A c.1333-23_1333-13del - IntronicDeletion - 13/26 1
13-48953728-A-G c.1333-2A>G - IntronicSNV - 13/26 1
13-48953729-G-A c.1333-1G>A - IntronicSNV - 13/26 1
13-48953730-CG-AC c.1333_1334delinsAC p.Arg445Thr Missense 14/27 - 1
13-48953730-C-T c.1333C>T p.Arg445* Nonsense 14/27 - 30
13-48953736-A-C c.1339A>C p.Lys447Gln Missense 14/27 - 1
13-48953736-A-T c.1339A>T p.Lys447* Nonsense 14/27 - 1
13-48953742-G-A c.1345G>A p.Gly449Arg Missense 14/27 - 1
13-48953743-G-A c.1346G>A p.Gly449Glu Missense 14/27 - 4
13-48953743-G-T c.1346G>T p.Gly449Val Missense 14/27 - 1
13-48953749-G-A c.1352G>A p.Arg451His Missense 14/27 - 1
13-48953750-C-A c.1353C>A p.Arg451Arg Synonymous 14/27 - 1
13-48953750-C-G c.1353C>G p.Arg451Arg Synonymous 14/27 - 1
13-48953750-C-T c.1353C>T p.Arg451Arg Synonymous 14/27 - 1
13-48953756-T-A c.1359T>A p.Tyr453* Nonsense 14/27 - 1
13-48953759-C-T c.1362C>T p.Tyr454Tyr Synonymous 14/27 - 1
13-48953760-CGA-AGC c.1363_1365delinsAGC p.Arg455Ser Missense 14/27 - 1
13-48953760-C-T c.1363C>T p.Arg455* Nonsense 14/27 - 38
13-48953761-G-A c.1364G>A p.Arg455Gln Missense 14/27 - 1
13-48953767-T-G c.1370T>G p.Met457Arg Missense 14/27 - 1
13-48953769-G-T c.1372G>T p.Glu458* Nonsense 14/27 - 2
13-48953773-C-T c.1376C>T p.Ser459Phe Missense 14/27 - 1
13-48953780-T-TT c.1383dup p.Lys462* Nonsense 14/27 - 2
13-48953785-C-G c.1388C>G p.Ser463* Nonsense 14/27 - 2
13-48953785-C-T c.1388C>T p.Ser463Leu Missense 14/27 - 1
13-48953786-A-G c.1389A>G p.Ser463Ser Synonymous 14/27 - 1
13-48953788-T-G c.1389+2T>G - IntronicSNV - 14/26 1
13-48953790-A-G c.1389+4A>G - IntronicSNV - 14/26 1
13-48953791-G-A c.1389+5G>A - IntronicSNV - 14/26 1
13-48953798-AA-A c.1389+12del - IntronicDeletion - 14/26 1
13-48953802-T-A c.1389+16T>A - IntronicSNV - 14/26 1
13-48953823-C-T c.1389+37C>T - IntronicSNV - 14/26 1
13-48954072-G-A c.1390-117G>A - IntronicSNV - 14/26 1
13-48954175-A-G c.1390-14A>G - IntronicSNV - 14/26 6
13-48954175-A-T c.1390-14A>T - IntronicSNV - 14/26 6
13-48954187-A-G c.1390-2A>G - IntronicSNV - 14/26 1
13-48954189-G-T c.1390G>T p.Glu464* Nonsense 15/27 - 1
13-48954193-A-G c.1394A>G p.Glu465Gly Missense 15/27 - 1
13-48954195-G-T c.1396G>T p.Glu466* Nonsense 15/27 - 2
13-48954197-AA-A c.1398del p.Glu466Aspfs*12 Frameshift 15/27 - 2
13-48954198-C-A c.1399C>A p.Arg467Arg Synonymous 15/27 - 1
13-48954198-C-G c.1399C>G p.Arg467Gly Missense 15/27 - 1
13-48954198-CGA-AGC c.1399_1401delinsAGC p.Arg467Ser Missense 15/27 - 1
13-48954198-C-T c.1399C>T p.Arg467* Nonsense 15/27 - 20
13-48954202-TTATC-T c.1403_1406del p.Leu468Serfs*9 Frameshift 15/27 - 1
13-48954202-T-TT c.1403dup p.Leu468Phefs*7 Frameshift 15/27 - 1
13-48954210-C-T c.1411C>T p.Gln471* Nonsense 15/27 - 1
13-48954211-A-C c.1412A>C p.Gln471Pro Missense 15/27 - 1
13-48954219-A-G c.1420A>G p.Ser474Gly Missense 15/27 - 1
13-48954219-TA-T c.1420del p.Ser474Alafs*4 Frameshift 15/27 - 1
13-48954220-G-T c.1421G>T p.Ser474Ile Missense 15/27 - 3
13-48954226-ATTTTTTACTTTTA-A c.1421+6_1421+18del - IntronicDeletion - 15/26 1
13-48954238-TAGTAAAAAATTTTTTT-T c.1421+18_1421+33del - IntronicDeletion - 15/26 1
13-48954249-TTTTTTCTTTTTATAGAAGTAAGTATTTTATAATCTTTTTTTTTTTCCTTTAGCAAACTT-T c.1421+29_1428del - Unclassified 16/27 15/26 1
13-48954253-TT-T c.1421+33del - IntronicDeletion - 15/26 1
13-48954299-A-G c.1422-2A>G - IntronicSNV - 15/26 1
13-48954302-A-T c.1423A>T p.Lys475* Nonsense 16/27 - 1
13-48954309-CT-C c.1430del p.Leu477Argfs*18 Frameshift 16/27 - 1
13-48954309-T-C c.1430T>C p.Leu477Pro Missense 16/27 - 1
13-48954316-ACA-A c.1437_1438del p.Asp479Glufs*13 Frameshift 16/27 - 1
13-48954318-AACA-A c.1439_1441del p.Asn480del InFrameDeletion 16/27 - 1
13-48954319-C-A c.1440C>A p.Asn480Lys Missense 16/27 - 1
13-48954319-C-G c.1440C>G p.Asn480Lys Missense 16/27 - 1
13-48954326-C-T c.1447C>T p.His483Tyr Missense 16/27 - 5
13-48954328-T-G c.1449T>G p.His483Gln Missense 16/27 - 1
13-48954329-A-AAT c.1450_1451insAT p.Met484Asnfs*12 Frameshift 16/27 - 1
13-48954329-TAT-T c.1450_1451del p.Met484Valfs*8 Frameshift 16/27 - 3
13-48954333-C-G c.1454C>G p.Ser485Cys Missense 16/27 - 1
13-48954333-C-T c.1454C>T p.Ser485Phe Missense 16/27 - 3
13-48954342-C-A c.1463C>A p.Ala488Glu Missense 16/27 - 1
13-48954342-C-T c.1463C>T p.Ala488Val Missense 16/27 - 1
13-48954345-G-A c.1466G>A p.Cys489Tyr Missense 16/27 - 1
13-48954346-C-A c.1467C>A p.Cys489* Nonsense 16/27 - 3
13-48954346-C-CC c.1467dup p.Ala490Argfs*3 Frameshift 16/27 - 1
13-48954347-G-A c.1468G>A p.Ala490Thr Missense 16/27 - 1
13-48954351-T-C c.1472T>C p.Leu491Pro Missense 16/27 - 2
13-48954353-G-A c.1474G>A p.Glu492Lys Missense 16/27 - 1
13-48954373-T-A c.1494T>A p.Tyr498* Nonsense 16/27 - 2
13-48954373-T-G c.1494T>G p.Tyr498* Nonsense 16/27 - 6
13-48954377-A-G c.1498A>G p.Arg500Gly Missense 16/27 - 1
13-48954378-G-T c.1498+1G>T - IntronicSNV - 16/26 1
13-48954379-T-C c.1498+2T>C - IntronicSNV - 16/26 1
13-48954382-AG-A c.1498+5del - IntronicDeletion - 16/26 1
13-48954382-G-A c.1498+5G>A - IntronicSNV - 16/26 1
13-48954450-G-A c.1498+73G>A - IntronicSNV - 16/26 1
13-48955381-A-C c.1499-2A>C - IntronicSNV - 16/26 1
13-48955382-G-A c.1499-1G>A - IntronicSNV - 16/26 1
13-48955382-G-C c.1499-1G>C - IntronicSNV - 16/26 1
13-48955383-G-T c.1499G>T p.Arg500Ile Missense 17/27 - 1
13-48955389-C-T c.1505C>T p.Thr502Ile Missense 17/27 - 1
13-48955392-C-T c.1508C>T p.Ser503Phe Missense 17/27 - 1
13-48955392-TC-T c.1508del p.Ser503Phefs*16 Frameshift 17/27 - 1
13-48955394-C-A c.1510C>A p.Gln504Lys Missense 17/27 - 1
13-48955394-C-T c.1510C>T p.Gln504* Nonsense 17/27 - 4
13-48955409-G-A c.1525G>A p.Gly509Arg Missense 17/27 - 1
13-48955409-G-C c.1525G>C p.Gly509Arg Missense 17/27 - 1
13-48955410-G-A c.1526G>A p.Gly509Glu Missense 17/27 - 1
13-48955413-C-T c.1529C>T p.Thr510Ile Missense 17/27 - 1
13-48955420-TGT-T c.1536_1537del p.Leu512Phefs*10 Frameshift 17/27 - 1
13-48955428-C-T c.1544C>T p.Pro515Leu Missense 17/27 - 5
13-48955431-G-A c.1547G>A p.Trp516* Nonsense 17/27 - 1
13-48955432-G-A c.1548G>A p.Trp516* Nonsense 17/27 - 1
13-48955433-A-G c.1549A>G p.Ile517Val Missense 17/27 - 1
13-48955433-GA-G c.1549del p.Ile517Phefs*2 Frameshift 17/27 - 1
13-48955434-T-G c.1550T>G p.Ile517Ser Missense 17/27 - 1
13-48955438-G-GT c.1554_1555insT p.Asn519* Nonsense 17/27 - 1
13-48955439-A-AG c.1555_1556insG p.Asn519Argfs*4 Frameshift 17/27 - 2
13-48955449-A-C c.1565A>C p.Asn522Thr Missense 17/27 - 1
13-48955452-T-G c.1568T>G p.Leu523* Nonsense 17/27 - 1
13-48955454-A-C c.1570A>C p.Lys524Gln Missense 17/27 - 1
13-48955456-AA-A c.1572del p.Ala525Profs*7 Frameshift 17/27 - 1
13-48955456-A-C c.1572A>C p.Lys524Asn Missense 17/27 - 1
13-48955456-A-T c.1572A>T p.Lys524Asn Missense 17/27 - 1
13-48955458-C-A c.1574C>A p.Ala525Asp Missense 17/27 - 7
13-48955458-C-G c.1574C>G p.Ala525Gly Missense 17/27 - 7
13-48955459-CC-C c.1575del p.Phe526Leufs*6 Frameshift 17/27 - 1
13-48955472-AA-GC c.1588_1589delinsGC p.Lys530Ala Missense 17/27 - 1
13-48955473-A-G c.1589A>G p.Lys530Arg Missense 17/27 - 1
13-48955479-T-A c.1595T>A p.Ile532Asn Missense 17/27 - 1
13-48955481-G-T c.1597G>T p.Glu533* Nonsense 17/27 - 2
13-48955488-TTT-T c.1604_1605del p.Phe535Tyrfs*19 Frameshift 17/27 - 1
13-48955496-G-C c.1612G>C p.Ala538Pro Missense 17/27 - 1
13-48955499-AGAAGGCAACTTGACA-A c.1615_1629del p.Glu539_Thr543del InFrameDeletion 17/27 - 1
13-48955499-G-A c.1615G>A p.Glu539Lys Missense 17/27 - 1
13-48955499-G-T c.1615G>T p.Glu539* Nonsense 17/27 - 1
13-48955502-AGG-A c.1618_1619del p.Gly540Glnfs*14 Frameshift 17/27 - 1
13-48955506-A-G c.1622A>G p.Asn541Ser Missense 17/27 - 1
13-48955507-C-A c.1623C>A p.Asn541Lys Missense 17/27 - 1
13-48955507-C-G c.1623C>G p.Asn541Lys Missense 17/27 - 1
13-48955509-T-C c.1625T>C p.Leu542Ser Missense 17/27 - 1
13-48955509-T-G c.1625T>G p.Leu542Trp Missense 17/27 - 1
13-48955510-G-C c.1626G>C p.Leu542Phe Missense 17/27 - 1
13-48955510-G-T c.1626G>T p.Leu542Phe Missense 17/27 - 1
13-48955514-AA-A c.1630del p.Arg544Glufs*3 Frameshift 17/27 - 1
13-48955515-GA-TG c.1631_1632delinsTG p.Arg544Met Missense 17/27 - 1
13-48955517-G-A c.1633G>A p.Glu545Lys Missense 17/27 - 2
13-48955517-GA-CT c.1633_1634delinsCT p.Glu545Leu Missense 17/27 - 1
13-48955517-G-T c.1633G>T p.Glu545* Nonsense 17/27 - 1
13-48955518-A-C c.1634A>C p.Glu545Ala Missense 17/27 - 1
13-48955519-A-C c.1635A>C p.Glu545Asp Missense 17/27 - 1
13-48955519-A-T c.1635A>T p.Glu545Asp Missense 17/27 - 1
13-48955528-A-AA c.1644dup p.His549Thrfs*6 Frameshift 17/27 - 1
13-48955528-AA-A c.1644del p.Lys548Asnfs*3 Frameshift 17/27 - 1
13-48955530-A-T c.1646A>T p.His549Leu Missense 17/27 - 1
13-48955538-C-T c.1654C>T p.Arg552* Nonsense 17/27 - 32
13-48955550-C-G c.1666C>G p.Arg556Gly Missense 17/27 - 1
13-48955550-C-T c.1666C>T p.Arg556* Nonsense 17/27 - 29
13-48955551-G-A c.1667G>A p.Arg556Gln Missense 17/27 - 1
13-48955551-G-T c.1667G>T p.Arg556Leu Missense 17/27 - 1
13-48955568-G-C c.1684G>C p.Ala562Pro Missense 17/27 - 1
13-48955570-CATG-C c.1686_1688del p.Trp563del InFrameDeletion 17/27 - 1
13-48955571-T-C c.1687T>C p.Trp563Arg Missense 17/27 - 1
13-48955572-G-A c.1688G>A p.Trp563* Nonsense 17/27 - 3
13-48955572-G-C c.1688G>C p.Trp563Ser Missense 17/27 - 2
13-48955572-G-T c.1688G>T p.Trp563Leu Missense 17/27 - 1
13-48955573-G-A c.1689G>A p.Trp563* Nonsense 17/27 - 3
13-48955573-G-C c.1689G>C p.Trp563Cys Missense 17/27 - 1
13-48955574-C-T c.1690C>T p.Leu564Phe Missense 17/27 - 1
13-48955577-CTCA-C c.1693_1695del p.Ser565del InFrameDeletion 17/27 - 1
13-48955580-G-A c.1695+1G>A - IntronicSNV - 17/26 1
13-48955583-A-G c.1695+4A>G - IntronicSNV - 17/26 1
13-48955585-T-C c.1695+6T>C - IntronicSNV - 17/26 1
13-48955613-T-C c.1695+34T>C - IntronicSNV - 17/26 1
13-48955613-T-G c.1695+34T>G - IntronicSNV - 17/26 1
13-48955660-A-AAA c.1695+81_1695+82insAA - IntronicInsertion - 17/26 7
13-48963784-T-A c.1695+8205T>A - IntronicSNV - 17/26 1
13-48963784-T-C c.1695+8205T>C - IntronicSNV - 17/26 1
13-48964748-T-C c.1695+9169T>C - IntronicSNV - 17/26 1
13-48971936-G-A c.1695+16357G>A - IntronicSNV - 17/26 9
13-48971936-G-T c.1695+16357G>T - IntronicSNV - 17/26 9
13-48976514-C-T c.1695+20935C>T - IntronicSNV - 17/26 1
13-48976855-A-G c.1695+21276A>G - IntronicSNV - 17/26 1
13-48977638-A-C c.1695+22059A>C - IntronicSNV - 17/26 3
13-48979167-T-C c.1695+23588T>C - IntronicSNV - 17/26 1
13-48982973-T-A c.1695+27394T>A - IntronicSNV - 17/26 1
13-48982973-T-C c.1695+27394T>C - IntronicSNV - 17/26 1
13-48984063-G-A c.1695+28484G>A - IntronicSNV - 17/26 5
13-48985305-C-G c.1695+29726C>G - IntronicSNV - 17/26 1
13-48985439-G-T c.1695+29860G>T - IntronicSNV - 17/26 9
13-48985639-C-A c.1695+30060C>A - IntronicSNV - 17/26 2
13-48986149-G-A c.1695+30570G>A - IntronicSNV - 17/26 1
13-48986149-G-C c.1695+30570G>C - IntronicSNV - 17/26 1
13-48986149-G-T c.1695+30570G>T - IntronicSNV - 17/26 1
13-48986429-C-T c.1695+30850C>T - IntronicSNV - 17/26 1
13-48986751-G-A c.1695+31172G>A - IntronicSNV - 17/26 1
13-48987032-A-G c.1695+31453A>G - IntronicSNV - 17/26 7
13-48992810-G-A c.1696-34319G>A - IntronicSNV - 17/26 1
13-48994005-C-G c.1696-33124C>G - IntronicSNV - 17/26 1
13-48997693-G-A c.1696-29436G>A - IntronicSNV - 17/26 23
13-48997693-G-T c.1696-29436G>T - IntronicSNV - 17/26 23
13-49010485-T-A c.1696-16644T>A - IntronicSNV - 17/26 1
13-49010485-T-C c.1696-16644T>C - IntronicSNV - 17/26 1
13-49011580-A-T c.1696-15549A>T - IntronicSNV - 17/26 1
13-49012265-G-A c.1696-14864G>A - IntronicSNV - 17/26 3
13-49012493-G-A c.1696-14636G>A - IntronicSNV - 17/26 4
13-49012493-G-C c.1696-14636G>C - IntronicSNV - 17/26 4
13-49016063-T-G c.1696-11066T>G - IntronicSNV - 17/26 1
13-49016510-G-T c.1696-10619G>T - IntronicSNV - 17/26 1
13-49027126-T-G c.1696-3T>G - IntronicSNV - 17/26 1
13-49027127-A-G c.1696-2A>G - IntronicSNV - 17/26 1
13-49027128-G-A c.1696-1G>A - IntronicSNV - 17/26 1
13-49027129-G-A c.1696G>A p.Asp566Asn Missense 18/27 - 1
13-49027129-G-T c.1696G>T p.Asp566Tyr Missense 18/27 - 1
13-49027130-GATTCACCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGGACCAACTGATCAC-G c.1697_1755del p.Asp566Alafs*2 Multi:SpliceAcceptorDeletion,CdsStopDeletion 18/27 - 1
13-49027132-T-C c.1699T>C p.Ser567Pro Missense 18/27 - 1
13-49027133-C-A c.1700C>A p.Ser567* Nonsense 18/27 - 2
13-49027133-C-G c.1700C>G p.Ser567* Nonsense 18/27 - 2
13-49027133-C-T c.1700C>T p.Ser567Leu Missense 18/27 - 4
13-49027136-CC-C c.1703del p.Pro568Leufs*43 Frameshift 18/27 - 1
13-49027139-T-A c.1706T>A p.Leu569* Nonsense 18/27 - 1
13-49027140-A-G c.1707A>G p.Leu569Leu Synonymous 18/27 - 3
13-49027140-A-T c.1707A>T p.Leu569Phe Missense 18/27 - 2
13-49027144-G-A c.1711G>A p.Asp571Asn Missense 18/27 - 1
13-49027146-T-TTT c.1713_1714insTT p.Leu572Phefs*40 Frameshift 18/27 - 1
13-49027151-T-C c.1718T>C p.Ile573Thr Missense 18/27 - 1
13-49027156-C-T c.1723C>T p.Gln575* Nonsense 18/27 - 7
13-49027157-A-G c.1724A>G p.Gln575Arg Missense 18/27 - 1
13-49027158-A-C c.1725A>C p.Gln575His Missense 18/27 - 1
13-49027158-A-T c.1725A>T p.Gln575His Missense 18/27 - 1
13-49027159-T-G c.1726T>G p.Ser576Ala Missense 18/27 - 1
13-49027160-C-A c.1727C>A p.Ser576* Nonsense 18/27 - 3
13-49027160-C-G c.1727C>G p.Ser576* Nonsense 18/27 - 3
13-49027160-C-T c.1727C>T p.Ser576Leu Missense 18/27 - 2
13-49027167-ACC-A c.1734_1735del p.Asp578Glufs*6 Frameshift 18/27 - 1
13-49027167-CC-TT c.1734_1735delinsTT p.Arg579* Missense 18/27 - 1
13-49027168-CC-C c.1735del p.Arg579Glufs*32 Frameshift 18/27 - 2
13-49027168-C-T c.1735C>T p.Arg579* Nonsense 18/27 - 38
13-49027169-CGAGAAGGACC-C c.1736_1745del p.Arg579Glnfs*29 Frameshift 18/27 - 2
13-49027171-G-T c.1738G>T p.Glu580* Nonsense 18/27 - 2
13-49027175-GG-G c.1742del p.Gly581Aspfs*30 Frameshift 18/27 - 1
13-49027178-CA-AT c.1745_1746delinsAT p.Pro582His Missense 18/27 - 1
13-49027179-A-C c.1746A>C p.Pro582Pro Synonymous 18/27 - 1
13-49027179-A-G c.1746A>G p.Pro582Pro Synonymous 18/27 - 1
13-49027179-A-T c.1746A>T p.Pro582Pro Synonymous 18/27 - 1
13-49027183-G-T c.1750G>T p.Asp584Tyr Missense 18/27 - 1
13-49027186-C-T c.1753C>T p.His585Tyr Missense 18/27 - 1
13-49027191-TT-T c.1758del p.Glu587Asnfs*24 Frameshift 18/27 - 1
13-49027192-G-T c.1759G>T p.Glu587* Nonsense 18/27 - 3
13-49027207-TCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCAGATATGTAAGCAAAATA-T c.1774_1814+12del - SpliceDonorDeletion 18/27 18/26 1
13-49027212-T-C c.1779T>C p.Asn593Asn Synonymous 18/27 - 1
13-49027215-T-A c.1782T>A p.Leu594Leu Synonymous 18/27 - 1
13-49027217-C-T c.1784C>T p.Pro595Leu Missense 18/27 - 2
13-49027219-C-G c.1786C>G p.Leu596Val Missense 18/27 - 1
13-49027219-C-T c.1786C>T p.Leu596Phe Missense 18/27 - 1
13-49027220-T-G c.1787T>G p.Leu596Arg Missense 18/27 - 3
13-49027222-C-T c.1789C>T p.Gln597* Nonsense 18/27 - 2
13-49027229-A-G c.1796A>G p.Asn599Ser Missense 18/27 - 2
13-49027230-T-A c.1797T>A p.Asn599Lys Missense 18/27 - 1
13-49027236-CT-C c.1803del p.Ala602Glnfs*9 Frameshift 18/27 - 1
13-49027237-G-T c.1804G>T p.Ala602Ser Missense 18/27 - 1
13-49027238-C-T c.1805C>T p.Ala602Val Missense 18/27 - 1
13-49027244-A-G c.1811A>G p.Asp604Gly Missense 18/27 - 1
13-49027249-T-A c.1814+2T>A - IntronicSNV - 18/26 1
13-49027249-T-C c.1814+2T>C - IntronicSNV - 18/26 1
13-49027250-A-C c.1814+3A>C - IntronicSNV - 18/26 1
13-49027250-TAAGCAAAATATATGT-T c.1814+3_1814+17del - SpliceDonorDeletion - 18/26 1
13-49027641-G-A c.1814+394G>A - IntronicSNV - 18/26 3
13-49029385-T-C c.1815-955T>C - IntronicSNV - 18/26 1
13-49030335-T-C c.1815-5T>C - IntronicSNV - 18/26 1
13-49030338-A-G c.1815-2A>G - IntronicSNV - 18/26 1
13-49030342-A-G c.1817A>G p.Tyr606Cys Missense 19/27 - 1
13-49030343-T-A c.1818T>A p.Tyr606* Nonsense 19/27 - 5
13-49030344-C-A c.1819C>A p.Leu607Ile Missense 19/27 - 2
13-49030345-T-C c.1820T>C p.Leu607Pro Missense 19/27 - 1
13-49030346-TTT-T c.1821_1822del p.Pro609Cysfs*43 Frameshift 19/27 - 1
13-49030356-AA-A c.1831del p.Arg611Aspfs*12 Frameshift 19/27 - 1
13-49030356-A-T c.1831A>T p.Arg611* Nonsense 19/27 - 1
13-49030366-AA-A c.1841del p.Lys614Argfs*9 Frameshift 19/27 - 1
13-49030371-A-G c.1846A>G p.Lys616Glu Missense 19/27 - 2
13-49030374-G-GA c.1849_1850insA p.Gly617Glufs*36 Frameshift 19/27 - 1
13-49030378-C-A c.1853C>A p.Ser618* Nonsense 19/27 - 1
13-49030378-C-G c.1853C>G p.Ser618* Nonsense 19/27 - 1
13-49030386-C-A c.1861C>A p.Arg621Ser Missense 19/27 - 3
13-49030386-C-T c.1861C>T p.Arg621Cys Missense 19/27 - 1
13-49030386-GCG-G c.1861_1862del p.Arg621Cysfs*31 Frameshift 19/27 - 1
13-49030387-G-A c.1862G>A p.Arg621His Missense 19/27 - 2
13-49030387-GT-AA c.1862_1863delinsAA p.Arg621Gln Missense 19/27 - 1
13-49030401-G-A c.1876G>A p.Ala626Thr Missense 19/27 - 1
13-49030408-C-G c.1883C>G p.Ala628Gly Missense 19/27 - 1
13-49030409-A-C c.1884A>C p.Ala628Ala Synonymous 19/27 - 1
13-49030409-A-G c.1884A>G p.Ala628Ala Synonymous 19/27 - 1
13-49030409-A-T c.1884A>T p.Ala628Ala Synonymous 19/27 - 1
13-49030412-AGA-A c.1887_1888del p.Glu629Aspfs*23 Frameshift 19/27 - 2
13-49030416-C-A c.1891C>A p.Gln631Lys Missense 19/27 - 2
13-49030416-C-T c.1891C>T p.Gln631* Nonsense 19/27 - 2
13-49030425-T-C c.1900T>C p.Ser634Pro Missense 19/27 - 1
13-49030426-C-A c.1901C>A p.Ser634* Nonsense 19/27 - 2
13-49030426-C-T c.1901C>T p.Ser634Leu Missense 19/27 - 1
13-49030428-G-C c.1903G>C p.Ala635Pro Missense 19/27 - 1
13-49030434-C-T c.1909C>T p.Gln637* Nonsense 19/27 - 4
13-49030440-C-T c.1915C>T p.Gln639* Nonsense 19/27 - 3
13-49030450-T-A c.1925T>A p.Leu642* Nonsense 19/27 - 1
13-49030452-A-G c.1927A>G p.Lys643Glu Missense 19/27 - 1
13-49030454-A-G c.1929A>G p.Lys643Lys Synonymous 19/27 - 1
13-49030456-C-A c.1931C>A p.Ser644Tyr Missense 19/27 - 1
13-49030459-C-T c.1934C>T p.Thr645Ile Missense 19/27 - 1
13-49030462-C-T c.1937C>T p.Ser646Phe Missense 19/27 - 2
13-49030464-TCT-T c.1939_1940del p.Leu647Phefs*5 Frameshift 19/27 - 2
13-49030465-T-G c.1940T>G p.Leu647Arg Missense 19/27 - 1
13-49030466-T-A c.1941T>A p.Leu647Leu Synonymous 19/27 - 1
13-49030466-T-C c.1941T>C p.Leu647Leu Synonymous 19/27 - 1
13-49030466-T-G c.1941T>G p.Leu647Leu Synonymous 19/27 - 1
13-49030468-C-A c.1943C>A p.Ser648* Nonsense 19/27 - 1
13-49030468-C-G c.1943C>G p.Ser648* Nonsense 19/27 - 1
13-49030472-TG-T c.1947del p.Tyr651Ilefs*7 Frameshift 19/27 - 1
13-49030474-T-C c.1949T>C p.Phe650Ser Missense 19/27 - 2
13-49030478-T-G c.1953T>G p.Tyr651* Nonsense 19/27 - 1
13-49030479-A-G c.1954A>G p.Lys652Glu Missense 19/27 - 1
13-49030479-A-T c.1954A>T p.Lys652* Nonsense 19/27 - 2
13-49030481-A-AT c.1956_1957insT p.Lys653* Nonsense 19/27 - 2
13-49030483-AA-TG c.1958_1959delinsTG p.Lys653Met Missense 19/27 - 1
13-49030484-A-AA c.1959dup p.Val654Serfs*14 SpliceDonorInsertion 19/27 - 6
13-49030484-AA-A c.1959del p.Val654Cysfs*4 Frameshift 19/27 - 1
13-49030484-A-AC c.1959_1960insC p.Val654Argfs*14 SpliceDonorInsertion 19/27 - 2
13-49030484-A-AT c.1959_1960insT p.Val654Cysfs*14 SpliceDonorInsertion 19/27 - 2
13-49030485-G-A c.1960G>A p.Val654Met Missense 19/27 - 7
13-49030485-G-C c.1960G>C p.Val654Leu Missense 19/27 - 8
13-49030485-G-T c.1960G>T p.Val654Leu Missense 19/27 - 5
13-49030486-G-A c.1960+1G>A - IntronicSNV - 19/26 4
13-49030486-G-C c.1960+1G>C - IntronicSNV - 19/26 1
13-49030486-GG-G c.1960+1del - IntronicDeletion - 19/26 1
13-49030490-G-C c.1960+5G>C - IntronicSNV - 19/26 1
13-49033668-T-C c.1961-156T>C - IntronicSNV - 19/26 1
13-49033747-G-A c.1961-77G>A - IntronicSNV - 19/26 10
13-49033812-T-C c.1961-12T>C - IntronicSNV - 19/26 1
13-49033822-A-G c.1961-2A>G - IntronicSNV - 19/26 1
13-49033823-G-C c.1961-1G>C - IntronicSNV - 19/26 1
13-49033824-GTGT-G c.1961_1963del p.Val654_Tyr655delinsAsp SpliceAcceptorDeletion 20/27 - 1
13-49033824-T-A c.1961T>A p.Val654Glu Missense 20/27 - 2
13-49033825-G-A c.1962G>A p.Val654Val Synonymous 20/27 - 1
13-49033828-T-G c.1965T>G p.Tyr655* Nonsense 20/27 - 2
13-49033829-C-A c.1966C>A p.Arg656Arg Synonymous 20/27 - 4
13-49033829-C-T c.1966C>T p.Arg656Trp Missense 20/27 - 10
13-49033831-G-T c.1968G>T p.Arg656Arg Synonymous 20/27 - 1
13-49033835-AGCCTATCTCCGGCTA-A c.1972_1986del p.Ala658_Leu662del InFrameDeletion 20/27 - 1
13-49033835-G-A c.1972G>A p.Ala658Thr Missense 20/27 - 2
13-49033835-G-C c.1972G>C p.Ala658Pro Missense 20/27 - 1
13-49033835-G-T c.1972G>T p.Ala658Ser Missense 20/27 - 1
13-49033836-C-A c.1973C>A p.Ala658Asp Missense 20/27 - 1
13-49033838-CTATCTCC-C c.1975_1981del p.Tyr659Glyfs*2 Frameshift 20/27 - 1
13-49033838-T-C c.1975T>C p.Tyr659His Missense 20/27 - 2
13-49033844-CG-TA c.1981_1982delinsTA p.Arg661* Nonsense 20/27 - 2
13-49033844-C-T c.1981C>T p.Arg661Trp Missense 20/27 - 40
13-49033845-G-A c.1982G>A p.Arg661Gln Missense 20/27 - 1
13-49033848-T-C c.1985T>C p.Leu662Pro Missense 20/27 - 1
13-49033856-C-G c.1993C>G p.Leu665Val Missense 20/27 - 1
13-49033857-T-C c.1994T>C p.Leu665Pro Missense 20/27 - 1
13-49033857-T-G c.1994T>G p.Leu665Arg Missense 20/27 - 2
13-49033862-G-T c.1999G>T p.Glu667* Nonsense 20/27 - 1
13-49033865-C-T c.2002C>T p.Arg668Cys Missense 20/27 - 3
13-49033872-T-C c.2009T>C p.Leu670Pro Missense 20/27 - 3
13-49033875-C-T c.2012C>T p.Ser671Phe Missense 20/27 - 1
13-49033877-G-C c.2014G>C p.Glu672Gln Missense 20/27 - 1
13-49033880-C-T c.2017C>T p.His673Tyr Missense 20/27 - 1
13-49033881-A-C c.2018A>C p.His673Pro Missense 20/27 - 1
13-49033886-G-T c.2023G>T p.Glu675* Nonsense 20/27 - 2
13-49033891-A-C c.2028A>C p.Leu676Phe Missense 20/27 - 1
13-49033891-A-T c.2028A>T p.Leu676Phe Missense 20/27 - 1
13-49033892-G-T c.2029G>T p.Glu677* Nonsense 20/27 - 1
13-49033895-C-A c.2032C>A p.His678Asn Missense 20/27 - 1
13-49033896-A-T c.2033A>T p.His678Leu Missense 20/27 - 1
13-49033898-A-G c.2035A>G p.Ile679Val Missense 20/27 - 1
13-49033902-T-C c.2039T>C p.Ile680Thr Missense 20/27 - 9
13-49033905-G-A c.2042G>A p.Trp681* Nonsense 20/27 - 4
13-49033906-G-A c.2043G>A p.Trp681* Nonsense 20/27 - 4
13-49033910-C-T c.2047C>T p.Leu683Phe Missense 20/27 - 1
13-49033914-TT-T c.2051del p.Phe684Serfs*12 Frameshift 20/27 - 1
13-49033916-C-T c.2053C>T p.Gln685* Nonsense 20/27 - 5
13-49033917-A-C c.2054A>C p.Gln685Pro Missense 20/27 - 1
13-49033919-C-A c.2056C>A p.His686Asn Missense 20/27 - 1
13-49033922-CACCC-C c.2059_2062del p.Thr687Cysfs*8 Frameshift 20/27 - 2
13-49033923-C-CTCATT c.2060_2061insTCATT p.Leu688Hisfs*10 Frameshift 20/27 - 1
13-49033925-CTG-TTT c.2062_2064delinsTTT p.Leu688Phe Missense 20/27 - 1
13-49033926-T-C c.2063T>C p.Leu688Pro Missense 20/27 - 2
13-49033927-G-A c.2064G>A p.Leu688Leu Synonymous 20/27 - 1
13-49033928-C-T c.2065C>T p.Gln689* Nonsense 20/27 - 4
13-49033930-G-C c.2067G>C p.Gln689His Missense 20/27 - 1
13-49033932-A-G c.2069A>G p.Asn690Ser Missense 20/27 - 1
13-49033936-AG-A c.2073del p.Glu691Aspfs*5 Frameshift 20/27 - 1
13-49033937-T-TT c.2074dup p.Tyr692Leufs*2 Frameshift 20/27 - 1
13-49033938-A-G c.2075A>G p.Tyr692Cys Missense 20/27 - 2
13-49033943-C-G c.2080C>G p.Leu694Val Missense 20/27 - 1
13-49033943-CTC-TAA c.2080_2082delinsTAA p.Leu694* Nonsense 20/27 - 2
13-49033946-CAT-C c.2083_2084del p.Met695Glufs*25 Frameshift 20/27 - 4
13-49033948-G-GT c.2085_2086insT p.Arg696* Nonsense 20/27 - 1
13-49033952-AG-A c.2089del p.Asp697Thrfs*8 Frameshift 20/27 - 1
13-49033954-C-G c.2091C>G p.Asp697Glu Missense 20/27 - 4
13-49033955-A-T c.2092A>T p.Arg698Trp Missense 20/27 - 3
13-49033963-G-A c.2100G>A p.Leu700Leu Synonymous 20/27 - 1
13-49033964-G-A c.2101G>A p.Asp701Asn Missense 20/27 - 1
13-49033965-A-T c.2102A>T p.Asp701Val Missense 20/27 - 1
13-49033966-C-A c.2103C>A p.Asp701Glu Missense 20/27 - 1
13-49033966-C-G c.2103C>G p.Asp701Glu Missense 20/27 - 1
13-49033967-C-A c.2104C>A p.Gln702Lys Missense 20/27 - 2
13-49033967-C-T c.2104C>T p.Gln702* Nonsense 20/27 - 1
13-49033970-G-A c.2106+1G>A - IntronicSNV - 20/26 1
13-49033970-G-C c.2106+1G>C - IntronicSNV - 20/26 1
13-49033971-T-C c.2106+2T>C - IntronicSNV - 20/26 1
13-49033971-T-G c.2106+2T>G - IntronicSNV - 20/26 1
13-49034025-TCTT-T c.2106+56_2106+58del - IntronicDeletion - 20/26 1
13-49035467-T-C c.2106+1498T>C - IntronicSNV - 20/26 2
13-49035602-C-T c.2106+1633C>T - IntronicSNV - 20/26 1
13-49037865-A-G c.2107-2A>G - IntronicSNV - 20/26 1
13-49037866-G-C c.2107-1G>C - IntronicSNV - 20/26 1
13-49037867-GA-G c.2107del p.Ile703Leufs*2 Frameshift 21/27 - 1
13-49037870-A-G c.2110A>G p.Met704Val Missense 21/27 - 1
13-49037871-T-G c.2111T>G p.Met704Arg Missense 21/27 - 1
13-49037872-G-T c.2112G>T p.Met704Ile Missense 21/27 - 1
13-49037875-TGTGT-T c.2115_2118del p.Met705Ilefs*9 Frameshift 21/27 - 1
13-49037877-G-A c.2117G>A p.Cys706Tyr Missense 21/27 - 6
13-49037877-G-T c.2117G>T p.Cys706Phe Missense 21/27 - 15
13-49037879-T-C c.2119T>C p.Ser707Pro Missense 21/27 - 1
13-49037879-TT-T c.2119del p.Ser707Profs*8 Frameshift 21/27 - 1
13-49037883-T-A c.2123T>A p.Met708Lys Missense 21/27 - 1
13-49037883-T-G c.2123T>G p.Met708Arg Missense 21/27 - 2
13-49037885-T-TT c.2125dup p.Tyr709Leufs*12 Frameshift 21/27 - 1
13-49037886-A-G c.2126A>G p.Tyr709Cys Missense 21/27 - 1
13-49037892-T-A c.2132T>A p.Ile711Lys Missense 21/27 - 1
13-49037894-T-C c.2134T>C p.Cys712Arg Missense 21/27 - 12
13-49037896-C-A c.2136C>A p.Cys712* Nonsense 21/27 - 1
13-49037899-AA-A c.2139del p.Val714* Frameshift 21/27 - 1
13-49037902-G-A c.2142G>A p.Val714Val Synonymous 21/27 - 1
13-49037902-G-C c.2142G>C p.Val714Val Synonymous 21/27 - 1
13-49037902-G-T c.2142G>T p.Val714Val Synonymous 21/27 - 1
13-49037903-A-T c.2143A>T p.Lys715* Nonsense 21/27 - 2
13-49037910-ATAGACCTTA-A c.2150_2158del p.Ile717_Leu719del InFrameDeletion 21/27 - 1
13-49037912-G-A c.2152G>A p.Asp718Asn Missense 21/27 - 1
13-49037918-A-T c.2158A>T p.Lys720* Nonsense 21/27 - 1
13-49037919-A-G c.2159A>G p.Lys720Arg Missense 21/27 - 1
13-49037924-A-T c.2164A>T p.Lys722* Nonsense 21/27 - 1
13-49037929-C-G c.2169C>G p.Ile723Met Missense 21/27 - 1
13-49037931-T-C c.2171T>C p.Ile724Thr Missense 21/27 - 1
13-49037932-TTGTAACAGCAT-T c.2172_2182del p.Val725Glnfs*22 Frameshift 21/27 - 1
13-49037934-T-TT c.2174dup p.Thr726Asnfs*25 Frameshift 21/27 - 2
13-49037944-C-G c.2184C>G p.Tyr728* Nonsense 21/27 - 3
13-49037946-A-G c.2186A>G p.Lys729Arg Missense 21/27 - 1
13-49037953-T-A c.2193T>A p.Leu731Leu Synonymous 21/27 - 1
13-49037953-T-C c.2193T>C p.Leu731Leu Synonymous 21/27 - 1
13-49037953-T-G c.2193T>G p.Leu731Leu Synonymous 21/27 - 1
13-49037954-C-T c.2194C>T p.Pro732Ser Missense 21/27 - 1
13-49037957-C-T c.2197C>T p.His733Tyr Missense 21/27 - 1
13-49037959-T-A c.2199T>A p.His733Gln Missense 21/27 - 1
13-49037959-T-G c.2199T>G p.His733Gln Missense 21/27 - 1
13-49037959-T-TT c.2199dup p.Ala734Cysfs*17 Frameshift 21/27 - 1
13-49037966-C-T c.2206C>T p.Gln736* Nonsense 21/27 - 2
13-49037969-GG-G c.2209del p.Glu737Argfs*7 Frameshift 21/27 - 1
13-49037969-G-T c.2209G>T p.Glu737* Nonsense 21/27 - 3
13-49037971-G-A c.2211G>A p.Glu737Glu Synonymous 21/27 - 2
13-49037971-G-C c.2211G>C p.Glu737Asp Missense 21/27 - 1
13-49037971-G-T c.2211G>T p.Glu737Asp Missense 21/27 - 1
13-49037972-G-A c.2211+1G>A - IntronicSNV - 21/26 2
13-49037972-G-C c.2211+1G>C - IntronicSNV - 21/26 1
13-49037973-T-TT c.2211+2dup - IntronicInsertion - 21/26 1
13-49037976-G-A c.2211+5G>A - IntronicSNV - 21/26 1
13-49037976-G-T c.2211+5G>T - IntronicSNV - 21/26 1
13-49038003-T-A c.2211+32T>A - IntronicSNV - 21/26 1
13-49038677-G-A c.2212-457G>A - IntronicSNV - 21/26 2
13-49038677-G-T c.2212-457G>T - IntronicSNV - 21/26 2
13-49039118-T-A c.2212-16T>A - IntronicSNV - 21/26 1
13-49039119-A-C c.2212-15A>C - IntronicSNV - 21/26 2
13-49039119-A-G c.2212-15A>G - IntronicSNV - 21/26 1
13-49039119-A-T c.2212-15A>T - IntronicSNV - 21/26 1
13-49039121-T-A c.2212-13T>A - IntronicSNV - 21/26 1
13-49039133-G-T c.2212-1G>T - IntronicSNV - 21/26 1
13-49039134-GACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAA-G c.2212_2270del p.Thr738Leufs*37 Unclassified 22/27 - 1
13-49039135-C-A c.2213C>A p.Thr738Lys Missense 22/27 - 1
13-49039136-A-G c.2214A>G p.Thr738Thr Synonymous 22/27 - 1
13-49039137-ATTCAAA-A c.2215_2220del p.Phe739_Lys740del InFrameDeletion 22/27 - 1
13-49039139-C-A c.2217C>A p.Phe739Leu Missense 22/27 - 1
13-49039140-A-T c.2218A>T p.Lys740* Nonsense 22/27 - 1
13-49039144-CGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAACTCGGTCTTC-C c.2222_2280del p.Arg741Hisfs*34 SpliceDonorDeletion 22/27 - 1
13-49039146-GTT-ATG c.2224_2226delinsATG p.Val742Met Missense 22/27 - 1
13-49039154-C-T c.2232C>T p.Ile744Ile Synonymous 22/27 - 1
13-49039156-A-G c.2234A>G p.Lys745Arg Missense 22/27 - 2
13-49039157-AAGAAGAGGAGTATGA-A c.2235_2249del p.Lys745_Asp750delinsAsn MultiAAMissense 22/27 - 1
13-49039158-AG-A c.2236del p.Glu746Lysfs*8 Frameshift 22/27 - 1
13-49039158-G-T c.2236G>T p.Glu746* Nonsense 22/27 - 3
13-49039159-A-G c.2237A>G p.Glu746Gly Missense 22/27 - 1
13-49039159-GAAGAGGAGTATGATT-G c.2237_2251del p.Glu746_Ser751delinsAla MultiAAMissense 22/27 - 1
13-49039160-AAGAGGA-A c.2238_2243del p.Glu747_Glu748del InFrameDeletion 22/27 - 1
13-49039161-G-T c.2239G>T p.Glu747* Nonsense 22/27 - 1
13-49039164-G-A c.2242G>A p.Glu748Lys Missense 22/27 - 3
13-49039164-GAG-TGT c.2242_2244delinsTGT p.Glu748Cys Missense 22/27 - 1
13-49039164-G-T c.2242G>T p.Glu748* Nonsense 22/27 - 6
13-49039169-T-A c.2247T>A p.Tyr749* Nonsense 22/27 - 1
13-49039169-T-C c.2247T>C p.Tyr749Tyr Synonymous 22/27 - 1
13-49039169-T-G c.2247T>G p.Tyr749* Nonsense 22/27 - 1
13-49039169-T-TAA c.2247_2248insAA p.Asp750Lysfs*5 Frameshift 22/27 - 1
13-49039174-C-A c.2252C>A p.Ser751Tyr Missense 22/27 - 1
13-49039175-T-A c.2253T>A p.Ser751Ser Synonymous 22/27 - 1
13-49039175-T-C c.2253T>C p.Ser751Ser Synonymous 22/27 - 1
13-49039177-T-C c.2255T>C p.Ile752Thr Missense 22/27 - 1
13-49039179-AT-GC c.2257_2258delinsGC p.Ile753Ala Missense 22/27 - 1
13-49039181-A-C c.2259A>C p.Ile753Ile Synonymous 22/27 - 1
13-49039182-AGTA-A c.2260_2262del p.Val754del InFrameDeletion 22/27 - 1
13-49039182-G-A c.2260G>A p.Val754Ile Missense 22/27 - 1
13-49039182-G-T c.2260G>T p.Val754Leu Missense 22/27 - 1
13-49039183-T-G c.2261T>G p.Val754Gly Missense 22/27 - 1
13-49039185-T-A c.2263T>A p.Phe755Ile Missense 22/27 - 1
13-49039185-T-G c.2263T>G p.Phe755Val Missense 22/27 - 1
13-49039185-TT-AA c.2263_2264inv p.Phe755Asn Missense 22/27 - 1
13-49039186-T-C c.2264T>C p.Phe755Ser Missense 22/27 - 1
13-49039187-C-A c.2265C>A p.Phe755Leu Missense 22/27 - 1
13-49039189-TA-T c.2267del p.Tyr756Leufs*9 Frameshift 22/27 - 1
13-49039191-AA-GC c.2269_2270delinsGC p.Asn757Ala Missense 22/27 - 1
13-49039191-AA-TT c.2269_2270inv p.Asn757Phe Missense 22/27 - 2
13-49039192-A-C c.2270A>C p.Asn757Thr Missense 22/27 - 1
13-49039193-C-T c.2271C>T p.Asn757Asn Synonymous 22/27 - 1
13-49039194-T-C c.2272T>C p.Ser758Pro Missense 22/27 - 1
13-49039195-C-A c.2273C>A p.Ser758* Nonsense 22/27 - 1
13-49039195-C-T c.2273C>T p.Ser758Leu Missense 22/27 - 2
13-49039203-AT-GC c.2281_2282delinsGC p.Met761Ala Missense 22/27 - 1
13-49039204-T-C c.2282T>C p.Met761Thr Missense 22/27 - 1
13-49039206-C-T c.2284C>T p.Gln762* Nonsense 22/27 - 1
13-49039209-AGA-TGT c.2287_2289delinsTGT p.Arg763Cys Missense 22/27 - 1
13-49039209-A-T c.2287A>T p.Arg763* Nonsense 22/27 - 1
13-49039210-AGA-A c.2288_2289del p.Arg763Thrfs*31 Frameshift 22/27 - 1
13-49039215-A-G c.2293A>G p.Lys765Glu Missense 22/27 - 1
13-49039215-A-T c.2293A>T p.Lys765* Nonsense 22/27 - 1
13-49039232-G-C c.2310G>C p.Gln770His Missense 22/27 - 1
13-49039232-G-T c.2310G>T p.Gln770His Missense 22/27 - 1
13-49039237-C-T c.2315C>T p.Ala772Val Missense 22/27 - 1
13-49039242-CA-C c.2320del p.Thr774Profs*36 Frameshift 22/27 - 1
13-49039244-C-CT c.2322_2323insT p.Arg775* Nonsense 22/27 - 1
13-49039245-A-AA c.2323dup p.Arg775Lysfs*20 SpliceDonorInsertion 22/27 - 1
13-49039248-G-A c.2325+1G>A - IntronicSNV - 22/26 2
13-49039249-T-C c.2325+2T>C - IntronicSNV - 22/26 1
13-49039252-G-A c.2325+5G>A - IntronicSNV - 22/26 1
13-49039265-T-C c.2325+18T>C - IntronicSNV - 22/26 1
13-49039333-T-A c.2326-8T>A - IntronicSNV - 22/26 1
13-49039339-A-G c.2326-2A>G - IntronicSNV - 22/26 1
13-49039341-CC-GT c.2326_2327delinsGT p.Pro776Val Missense 23/27 - 1
13-49039345-CC-C c.2330del p.Pro777Leufs*33 Frameshift 23/27 - 3
13-49039347-A-T c.2332A>T p.Thr778Ser Missense 23/27 - 1
13-49039348-C-G c.2333C>G p.Thr778Ser Missense 23/27 - 1
13-49039351-T-A c.2336T>A p.Leu779* Nonsense 23/27 - 1
13-49039353-TCA-GAC c.2338_2340delinsGAC p.Ser780Asp Missense 23/27 - 1
13-49039357-C-A c.2342C>A p.Pro781Gln Missense 23/27 - 1
13-49039374-C-T c.2359C>T p.Arg787* Nonsense 23/27 - 33
13-49039375-G-A c.2360G>A p.Arg787Gln Missense 23/27 - 2
13-49039385-C-A c.2370C>A p.Tyr790* Nonsense 23/27 - 3
13-49039385-C-G c.2370C>G p.Tyr790* Nonsense 23/27 - 3
13-49039385-C-T c.2370C>T p.Tyr790Tyr Synonymous 23/27 - 1
13-49039386-A-T c.2371A>T p.Lys791* Nonsense 23/27 - 1
13-49039399-C-A c.2384C>A p.Ser795* Nonsense 23/27 - 2
13-49039399-C-G c.2384C>G p.Ser795* Nonsense 23/27 - 2
13-49039405-T-A c.2390T>A p.Leu797* Nonsense 23/27 - 1
13-49039405-T-G c.2390T>G p.Leu797* Nonsense 23/27 - 1
13-49039405-TT-T c.2390del p.Leu797Tyrfs*13 Frameshift 23/27 - 1
13-49039407-CG-TA c.2392_2393delinsTA p.Arg798* Nonsense 23/27 - 1
13-49039407-C-T c.2392C>T p.Arg798Trp Missense 23/27 - 1
13-49039408-G-A c.2393G>A p.Arg798Gln Missense 23/27 - 1
13-49039414-C-T c.2399C>T p.Pro800Leu Missense 23/27 - 1
13-49039416-G-T c.2401G>T p.Gly801* Nonsense 23/27 - 1
13-49039417-G-C c.2402G>C p.Gly801Ala Missense 23/27 - 2
13-49039418-GA-G c.2403del p.Asn803Thrfs*7 Frameshift 23/27 - 2
13-49039424-C-A c.2409C>A p.Asn803Lys Missense 23/27 - 1
13-49039424-C-G c.2409C>G p.Asn803Lys Missense 23/27 - 1
13-49039425-A-G c.2410A>G p.Ile804Val Missense 23/27 - 1
13-49039428-T-G c.2413T>G p.Tyr805Asp Missense 23/27 - 1
13-49039430-T-G c.2415T>G p.Tyr805* Nonsense 23/27 - 1
13-49039434-TCA-GAC c.2419_2421delinsGAC p.Ser807Asp Missense 23/27 - 1
13-49039434-T-G c.2419T>G p.Ser807Ala Missense 23/27 - 2
13-49039435-C-A c.2420C>A p.Ser807* Nonsense 23/27 - 2
13-49039435-C-G c.2420C>G p.Ser807* Nonsense 23/27 - 2
13-49039440-CC-C c.2425del p.Leu809* Frameshift 23/27 - 1
13-49039443-AA-GC c.2428_2429delinsGC p.Lys810Ala Missense 23/27 - 1
13-49039446-AG-GA c.2431_2432delinsGA p.Ser811Asp Missense 23/27 - 1
13-49039446-AG-GC c.2431_2432delinsGC p.Ser811Ala Missense 23/27 - 2
13-49039454-T-G c.2439T>G p.Tyr813* Nonsense 23/27 - 1
13-49039455-A-T c.2440A>T p.Lys814* Nonsense 23/27 - 1
13-49039462-C-A c.2447C>A p.Ser816* Nonsense 23/27 - 1
13-49039462-C-G c.2447C>G p.Ser816* Nonsense 23/27 - 1
13-49039470-C-G c.2455C>G p.Leu819Val Missense 23/27 - 5
13-49039470-C-T c.2455C>T p.Leu819Leu Synonymous 23/27 - 2
13-49039472-G-GG c.2457dup p.Pro820Alafs*18 Frameshift 23/27 - 1
13-49039476-AC-GA c.2461_2462delinsGA p.Thr821Glu Missense 23/27 - 1
13-49039476-A-G c.2461A>G p.Thr821Ala Missense 23/27 - 1
13-49039477-C-T c.2462C>T p.Thr821Ile Missense 23/27 - 1
13-49039482-A-G c.2467A>G p.Thr823Ala Missense 23/27 - 1
13-49039483-AC-A c.2468del p.Thr823Lysfs*3 Frameshift 23/27 - 2
13-49039491-AC-GA c.2476_2477delinsGA p.Thr826Asp Missense 23/27 - 1
13-49039491-ACT-GAG c.2476_2478delinsGAG p.Thr826Glu Missense 23/27 - 2
13-49039491-A-G c.2476A>G p.Thr826Ala Missense 23/27 - 2
13-49039505-G-A c.2489+1G>A - IntronicSNV - 23/26 1
13-49046026-G-A c.2490-1470G>A - IntronicSNV - 23/26 1
13-49046098-A-G c.2490-1398A>G - IntronicSNV - 23/26 1
13-49047451-A-G c.2490-45A>G - IntronicSNV - 23/26 2
13-49047468-T-C c.2490-28T>C - IntronicSNV - 23/26 1
13-49047470-A-C c.2490-26A>C - IntronicSNV - 23/26 1
13-49047489-T-G c.2490-7T>G - IntronicSNV - 23/26 1
13-49047490-T-A c.2490-6T>A - IntronicSNV - 23/26 2
13-49047493-C-T c.2490-3C>T - IntronicSNV - 23/26 1
13-49047495-G-A c.2490-1G>A - IntronicSNV - 23/26 2
13-49047497-A-AG c.2491_2492insG p.Ile831Serfs*7 SpliceAcceptorInsertion 24/27 - 1
13-49047497-A-G c.2491A>G p.Ile831Val Missense 24/27 - 2
13-49047500-CTT-C c.2494_2495del p.Leu832Serfs*5 Frameshift 24/27 - 1
13-49047507-C-A c.2501C>A p.Ser834* Nonsense 24/27 - 3
13-49047507-C-G c.2501C>G p.Ser834* Nonsense 24/27 - 3
13-49047515-G-A c.2509G>A p.Glu837Lys Missense 24/27 - 2
13-49047516-A-G c.2510A>G p.Glu837Gly Missense 24/27 - 1
13-49047519-C-G c.2513C>G p.Ser838* Nonsense 24/27 - 1
13-49047527-G-A c.2520+1G>A - IntronicSNV - 24/26 2
13-49047527-G-C c.2520+1G>C - IntronicSNV - 24/26 1
13-49047529-TGAGT-T c.2520+3_2520+6del - IntronicDeletion - 24/26 1
13-49047532-T-C c.2520+6T>C - IntronicSNV - 24/26 1
13-49047931-G-A c.2520+405G>A - IntronicSNV - 24/26 6
13-49047931-G-T c.2520+405G>T - IntronicSNV - 24/26 6
13-49048919-T-C c.2520+1393T>C - IntronicSNV - 24/26 1
13-49049059-C-G c.2520+1533C>G - IntronicSNV - 24/26 5
13-49050826-G-A c.2521-11G>A - IntronicSNV - 24/26 1
13-49050837-ACT-TAA c.2521_2523delinsTAA p.Thr841* Nonsense 25/27 - 1
13-49050839-T-G c.2523T>G p.Thr841Thr Synonymous 25/27 - 1
13-49050841-C-A c.2525C>A p.Ser842Tyr Missense 25/27 - 1
13-49050843-G-T c.2527G>T p.Glu843* Nonsense 25/27 - 1
13-49050847-AG-GC c.2531_2532delinsGC p.Lys844Ser Missense 25/27 - 1
13-49050852-CAG-TTT c.2536_2538delinsTTT p.Gln846Phe Missense 25/27 - 1
13-49050852-C-T c.2536C>T p.Gln846* Nonsense 25/27 - 2
13-49050853-A-AA c.2537dup p.Lys847Glufs*8 Frameshift 25/27 - 1
13-49050855-A-T c.2539A>T p.Lys847* Nonsense 25/27 - 1
13-49050859-T-G c.2543T>G p.Ile848Arg Missense 25/27 - 2
13-49050862-A-T c.2546A>T p.Asn849Ile Missense 25/27 - 2
13-49050864-C-T c.2548C>T p.Gln850* Nonsense 25/27 - 2
13-49050866-G-A c.2550G>A p.Gln850Gln Synonymous 25/27 - 1
13-49050875-GT-G c.2559del p.Cys853* Frameshift 25/27 - 1
13-49050881-C-T c.2565C>T p.Ser855Ser Synonymous 25/27 - 1
13-49050883-A-T c.2567A>T p.Asp856Val Missense 25/27 - 1
13-49050885-C-T c.2569C>T p.Arg857Cys Missense 25/27 - 1
13-49050886-G-A c.2570G>A p.Arg857His Missense 25/27 - 1
13-49050888-G-A c.2572G>A p.Val858Met Missense 25/27 - 1
13-49050896-A-G c.2580A>G p.Lys860Lys Synonymous 25/27 - 1
13-49050900-A-G c.2584A>G p.Ser862Gly Missense 25/27 - 1
13-49050906-G-T c.2590G>T p.Glu864* Nonsense 25/27 - 1
13-49050909-G-A c.2593G>A p.Gly865Arg Missense 25/27 - 1
13-49050909-G-C c.2593G>C p.Gly865Arg Missense 25/27 - 1
13-49050909-GGA-AGC c.2593_2595delinsAGC p.Gly865Ser Missense 25/27 - 1
13-49050928-C-T c.2612C>T p.Pro871Leu Missense 25/27 - 1
13-49050933-A-C c.2617A>C p.Lys873Gln Missense 25/27 - 1
13-49050936-A-C c.2620A>C p.Lys874Gln Missense 25/27 - 1
13-49050942-CGC-TGA c.2626_2628delinsTGA p.Arg876* Nonsense 25/27 - 1
13-49050944-C-A c.2628C>A p.Arg876Arg Synonymous 25/27 - 1
13-49050944-C-G c.2628C>G p.Arg876Arg Synonymous 25/27 - 1
13-49050944-C-T c.2628C>T p.Arg876Arg Synonymous 25/27 - 1
13-49050945-T-C c.2629T>C p.Phe877Leu Missense 25/27 - 23
13-49050968-A-G c.2652A>G p.Glu884Glu Synonymous 25/27 - 1
13-49050978-AG-GC c.2662_2663delinsGC p.Ser888Ala Missense 25/27 - 1
13-49050979-G-C c.2663G>C p.Ser888Thr Missense 25/27 - 1
13-49050980-G-A c.2663+1G>A - IntronicSNV - 25/26 1
13-49050981-T-C c.2663+2T>C - IntronicSNV - 25/26 2
13-49051012-C-T c.2663+33C>T - IntronicSNV - 25/26 4
13-49051481-T-A c.2664-10T>A - IntronicSNV - 25/26 15
13-49051491-GT-G c.2664del p.Ser888Argfs*17 Frameshift 26/27 - 1
13-49051492-A-G c.2665A>G p.Lys889Glu Missense 26/27 - 1
13-49051522-C-A c.2695C>A p.Gln899Lys Missense 26/27 - 1
13-49051525-A-G c.2698A>G p.Lys900Glu Missense 26/27 - 2
13-49051529-T-C c.2702T>C p.Leu901Pro Missense 26/27 - 1
13-49051568-T-C c.2713+28T>C - IntronicSNV - 26/26 1
13-49054143-G-A c.2723G>A p.Arg908Gln Missense 27/27 - 1
13-49054146-C-T c.2726C>T p.Thr909Ile Missense 27/27 - 1
13-49054149-G-A c.2729G>A p.Arg910Gln Missense 27/27 - 1
13-49054161-A-T c.2741A>T p.Gln914Leu Missense 27/27 - 1
13-49054170-A-G c.2750A>G p.Asn917Ser Missense 27/27 - 1
13-49054177-C-T c.2757C>T p.Ser919Ser Synonymous 27/27 - 1
13-49054184-A-G c.2764A>G p.Thr922Ala Missense 27/27 - 2
13-49054185-C-A c.2765C>A p.Thr922Asn Missense 27/27 - 1
13-49054199-G-A c.2779G>A p.Glu927Lys Missense 27/27 - 1
13-49054379-G-A c.*172G>A - 3-UTRSNV 27/27 - 1
13-49054523-T-A c.*316T>A - 3-UTRSNV 27/27 - 1
13-49054781-T-C c.*574T>C - 3-UTRSNV 27/27 - 1
13-49055243-G-T c.*1036G>T - 3-UTRSNV 27/27 - 1
13-49055467-G-A c.*1260G>A - 3-UTRSNV 27/27 - 1