EGF epidermal growth factor

Canonical transcript: NM_001178130

738 unique variant annotations were identified in 1028 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
4-110834110-A-G c.-382A>G - 5-UTRSNV 1/23 - 100
4-110834516-TT-CA c.25_26delinsCA p.Leu9Gln Missense 1/23 - 1
4-110834519-C-T c.28C>T p.Pro10Ser Missense 1/23 - 2
4-110834519-C-G c.28C>G p.Pro10Ala Missense 1/23 - 2
4-110834519-CCA-GAC c.28_30delinsGAC p.Pro10Asp Missense 1/23 - 1
4-110834522-GT-CA c.31_32delinsCA p.Val11Gln Missense 1/23 - 1
4-110834522-G-C c.31G>C p.Val11Leu Missense 1/23 - 2
4-110834522-G-T c.31G>T p.Val11Leu Missense 1/23 - 2
4-110834525-G-T c.34G>T p.Val12Phe Missense 1/23 - 1
4-110834525-GT-CA c.34_35delinsCA p.Val12His Missense 1/23 - 3
4-110834525-GTT-AAG c.34_36delinsAAG p.Val12Lys Missense 1/23 - 1
4-110834526-T-G c.35T>G p.Val12Gly Missense 1/23 - 13
4-110834526-T-A c.35T>A p.Val12Asp Missense 1/23 - 1
4-110834528-T-G c.37T>G p.Ser13Ala Missense 1/23 - 39
4-110834528-TC-AT c.37_38delinsAT p.Ser13Ile Missense 1/23 - 3
4-110834528-TCA-CAT c.37_39delinsCAT p.Ser13His Missense 1/23 - 1
4-110834528-TC-GA c.37_38inv p.Ser13Glu Missense 1/23 - 7
4-110834528-TC-GG c.37_38delinsGG p.Ser13Gly Missense 1/23 - 2
4-110834528-TCA-AAC c.37_39delinsAAC p.Ser13Asn Missense 1/23 - 1
4-110834528-TCA-GAC c.37_39delinsGAC p.Ser13Asp Missense 1/23 - 7
4-110834528-TCA-ATG c.37_39delinsATG p.Ser13Met Missense 1/23 - 1
4-110834529-CA-TT c.38_39delinsTT p.Ser13Phe Missense 1/23 - 4
4-110834529-C-T c.38C>T p.Ser13Leu Missense 1/23 - 2
4-110834529-CA-GT c.38_39delinsGT p.Ser13Cys Missense 1/23 - 14
4-110834531-AA-GC c.40_41delinsGC p.Lys14Ala Missense 1/23 - 1
4-110834531-AA-CC c.40_41delinsCC p.Lys14Pro Missense 1/23 - 1
4-110834531-AAA-TAT c.40_42delinsTAT p.Lys14Tyr Missense 1/23 - 1
4-110834532-A-G c.41A>G p.Lys14Arg Missense 1/23 - 2
4-110834536-T-A c.45T>A p.Phe15Leu Missense 1/23 - 4
4-110834536-T-G c.45T>G p.Phe15Leu Missense 1/23 - 4
4-110834534-T-C c.43T>C p.Phe15Leu Missense 1/23 - 4
4-110834537-AG-CA c.46_47delinsCA p.Ser16His Missense 1/23 - 2
4-110834537-A-C c.46A>C p.Ser16Arg Missense 1/23 - 1
4-110834537-A-T c.46A>T p.Ser16Cys Missense 1/23 - 3
4-110834537-AGT-GAG c.46_48delinsGAG p.Ser16Glu Missense 1/23 - 2
4-110834537-AG-GC c.46_47delinsGC p.Ser16Ala Missense 1/23 - 13
4-110834537-AG-GA c.46_47delinsGA p.Ser16Asp Missense 1/23 - 3
4-110834538-G-C c.47G>C p.Ser16Thr Missense 1/23 - 1
4-110834544-TT-AG c.53_54delinsAG p.Val18Glu Missense 1/23 - 1
4-110834546-AG-GC c.55_56delinsGC p.Ser19Ala Missense 1/23 - 5
4-110834546-AG-TT c.55_56delinsTT p.Ser19Phe Missense 1/23 - 1
4-110834546-A-T c.55A>T p.Ser19Cys Missense 1/23 - 3
4-110834546-AGT-GAG c.55_57delinsGAG p.Ser19Glu Missense 1/23 - 4
4-110834546-AG-GA c.55_56delinsGA p.Ser19Asp Missense 1/23 - 3
4-110834547-G-A c.56G>A p.Ser19Asn Missense 1/23 - 4
4-110834548-T-C c.57T>C p.Ser19Ser Synonymous 1/23 - 1
4-110834549-CT-GC c.58_59delinsGC p.Leu20Ala Missense 1/23 - 1
4-110834549-C-T c.58C>T p.Leu20Phe Missense 1/23 - 1
4-110834549-C-A c.58C>A p.Leu20Ile Missense 1/23 - 1
4-110834550-T-G c.59T>G p.Leu20Arg Missense 1/23 - 1
4-110834552-T-G c.61T>G p.Ser21Ala Missense 1/23 - 5
4-110834552-TCA-AAC c.61_63delinsAAC p.Ser21Asn Missense 1/23 - 4
4-110834552-TCA-GAC c.61_63delinsGAC p.Ser21Asp Missense 1/23 - 1
4-110834553-CA-GT c.62_63delinsGT p.Ser21Cys Missense 1/23 - 1
4-110834555-GC-AG c.64_65delinsAG p.Ala22Arg Missense 1/23 - 2
4-110834558-C-G c.67C>G p.Pro23Ala Missense 1/23 - 1
4-110834558-C-A c.67C>A p.Pro23Thr Missense 1/23 - 1
4-110834559-CG-AT c.68_69delinsAT p.Pro23His Missense 1/23 - 5
4-110834561-CA-GC c.70_71delinsGC p.Gln24Ala Missense 1/23 - 1
4-110834563-G-C c.72G>C p.Gln24His Missense 1/23 - 2
4-110834563-G-T c.72G>T p.Gln24His Missense 1/23 - 2
4-110834570-AG-GC c.79_80delinsGC p.Ser27Ala Missense 1/23 - 6
4-110834571-G-A c.80G>A p.Ser27Asn Missense 1/23 - 2
4-110834573-TG-GA c.82_83delinsGA p.Cys28Asp Missense 1/23 - 1
4-110834574-G-T c.83G>T p.Cys28Phe Missense 1/23 - 1
4-110834576-C-T c.85C>T p.Pro29Ser Missense 1/23 - 2
4-110834579-GA-AG c.88_89delinsAG p.Glu30Arg Missense 1/23 - 1
4-110834582-G-T c.91G>T p.Gly31Cys Missense 1/23 - 1
4-110834583-G-T c.92G>T p.Gly31Val Missense 1/23 - 1
4-110834585-A-G c.94A>G p.Thr32Ala Missense 1/23 - 2
4-110834586-C-A c.95C>A p.Thr32Asn Missense 1/23 - 1
4-110834588-C-G c.97C>G p.Leu33Val Missense 1/23 - 1
4-110834589-T-C c.98T>C p.Leu33Pro Missense 1/23 - 5
4-110834592-CA-AC c.101_102delinsAC p.Ala34Asp Missense 1/23 - 1
4-110834592-C-A c.101C>A p.Ala34Glu Missense 1/23 - 1
4-110834593-A-T c.102A>T p.Ala34Ala Synonymous 1/23 - 1
4-110834593-A-G c.102A>G p.Ala34Ala Synonymous 1/23 - 1
4-110834593-A-C c.102A>C p.Ala34Ala Synonymous 1/23 - 1
4-110834595-G-C c.104G>C p.Gly35Ala Missense 1/23 - 1
4-110834597-AA-GC c.106_107delinsGC p.Asn36Ala Missense 1/23 - 1
4-110834600-G-C c.109G>C p.Gly37Arg Missense 1/23 - 4
4-110834600-G-A c.109G>A p.Gly37Arg Missense 1/23 - 4
4-110834601-G-C c.110G>C p.Gly37Ala Missense 1/23 - 1
4-110834606-T-G c.115T>G p.Ser39Ala Missense 1/23 - 1
4-110834606-TC-GA c.115_116inv p.Ser39Asp Missense 1/23 - 1
4-110834609-A-G c.118A>G p.Thr40Ala Missense 1/23 - 1
4-110834615-G-C c.124G>C p.Val42Leu Missense 1/23 - 1
4-110834615-G-T c.124G>T p.Val42Leu Missense 1/23 - 1
4-110836048-G-A c.127+1430G>A - IntronicSNV - 1/22 2
4-110836564-G-A c.127+1946G>A - IntronicSNV - 1/22 1
4-110837667-G-A c.127+3049G>A - IntronicSNV - 1/22 1
4-110838126-G-A c.127+3508G>A - IntronicSNV - 1/22 2
4-110840946-A-G c.127+6328A>G - IntronicSNV - 1/22 1
4-110861927-G-A c.128-175G>A - IntronicSNV - 1/22 1
4-110862102-G-A c.128G>A p.Gly43Asp Missense 2/23 - 1
4-110862107-G-A c.133G>A p.Ala45Thr Missense 2/23 - 1
4-110862107-GCA-TGT c.133_135delinsTGT p.Ala45Cys Missense 2/23 - 1
4-110862107-GC-AT c.133_134delinsAT p.Ala45Ile Missense 2/23 - 1
4-110862108-C-A c.134C>A p.Ala45Glu Missense 2/23 - 1
4-110862108-CA-AC c.134_135delinsAC p.Ala45Asp Missense 2/23 - 1
4-110862113-TT-GC c.139_140delinsGC p.Phe47Ala Missense 2/23 - 1
4-110862115-C-T c.141C>T p.Phe47Phe Synonymous 2/23 - 1
4-110862120-T-A c.146T>A p.Ile49Asn Missense 2/23 - 1
4-110862124-C-G c.150C>G p.Phe50Leu Missense 2/23 - 2
4-110862122-T-C c.148T>C p.Phe50Leu Missense 2/23 - 2
4-110862124-C-A c.150C>A p.Phe50Leu Missense 2/23 - 2
4-110862123-T-G c.149T>G p.Phe50Cys Missense 2/23 - 1
4-110862123-TTCT-T c.149_151del p.Phe50del InFrameDeletion 2/23 - 1
4-110862125-TC-GA c.151_152inv p.Ser51Asp Missense 2/23 - 1
4-110862125-TCC-GAG c.151_153delinsGAG p.Ser51Glu Missense 2/23 - 1
4-110862125-T-G c.151T>G p.Ser51Ala Missense 2/23 - 4
4-110862128-CA-GC c.154_155delinsGC p.His52Ala Missense 2/23 - 1
4-110862134-A-G c.160A>G p.Asn54Asp Missense 2/23 - 1
4-110862135-A-G c.161A>G p.Asn54Ser Missense 2/23 - 1
4-110862135-AA-A c.161del p.Asn54Ilefs*24 Frameshift 2/23 - 1
4-110862137-AG-CC c.163_164delinsCC p.Ser55Pro Missense 2/23 - 1
4-110862137-AG-GA c.163_164delinsGA p.Ser55Asp Missense 2/23 - 1
4-110862137-AG-GC c.163_164delinsGC p.Ser55Ala Missense 2/23 - 1
4-110862139-T-C c.165T>C p.Ser55Ser Synonymous 2/23 - 2
4-110862140-AT-GG c.166_167delinsGG p.Ile56Gly Missense 2/23 - 2
4-110862144-T-G c.170T>G p.Phe57Cys Missense 2/23 - 1
4-110862150-T-C c.176T>C p.Ile59Thr Missense 2/23 - 3
4-110862152-GAC-AAG c.178_180delinsAAG p.Asp60Lys Missense 2/23 - 3
4-110862153-A-T c.179A>T p.Asp60Val Missense 2/23 - 1
4-110862155-AC-CA c.181_182delinsCA p.Thr61Gln Missense 2/23 - 1
4-110862156-C-G c.182C>G p.Thr61Arg Missense 2/23 - 1
4-110862158-G-A c.184G>A p.Glu62Lys Missense 2/23 - 2
4-110862161-GGA-AGC c.187_189delinsAGC p.Gly63Ser Missense 2/23 - 1
4-110862170-TA-CT c.196_197delinsCT p.Tyr66Leu Missense 2/23 - 1
4-110862170-T-C c.196T>C p.Tyr66His Missense 2/23 - 2
4-110862170-T-A c.196T>A p.Tyr66Asn Missense 2/23 - 1
4-110862171-A-C c.197A>C p.Tyr66Ser Missense 2/23 - 1
4-110862171-AT-GG c.197_198delinsGG p.Tyr66Trp Missense 2/23 - 2
4-110862174-A-C c.200A>C p.Glu67Ala Missense 2/23 - 1
4-110862177-A-T c.203A>T p.Gln68Leu Missense 2/23 - 1
4-110862179-T-C c.205T>C p.Leu69Leu Synonymous 2/23 - 1
4-110862179-TTG-CAT c.205_207delinsCAT p.Leu69His Missense 2/23 - 1
4-110862181-G-A c.207G>A p.Leu69Leu Synonymous 2/23 - 1
4-110862183-T-C c.209T>C p.Val70Ala Missense 2/23 - 3
4-110862185-G-A c.211G>A p.Val71Met Missense 2/23 - 1
4-110862187-G-T c.213G>T p.Val71Val Synonymous 2/23 - 1
4-110862188-GA-TG c.214_215delinsTG p.Asp72Cys Missense 2/23 - 1
4-110862188-G-A c.214G>A p.Asp72Asn Missense 2/23 - 1
4-110862189-A-C c.215A>C p.Asp72Ala Missense 2/23 - 2
4-110862191-GC-TT c.217_218delinsTT p.Ala73Phe Missense 2/23 - 1
4-110862192-CT-AG c.218_219inv p.Ala73Glu Missense 2/23 - 1
4-110862198-TC-AG c.224_225delinsAG p.Val75Glu Missense 2/23 - 1
4-110862200-T-A c.226T>A p.Ser76Thr Missense 2/23 - 1
4-110862200-T-G c.226T>G p.Ser76Ala Missense 2/23 - 3
4-110862206-AT-GC c.232_233delinsGC p.Ile78Ala Missense 2/23 - 1
4-110862207-T-C c.233T>C p.Ile78Thr Missense 2/23 - 1
4-110862210-TG-AC c.236_237delinsAC p.Met79Asn Missense 2/23 - 1
4-110862215-TT-GC c.241_242delinsGC p.Phe81Ala Missense 2/23 - 1
4-110862215-TT-GA c.241_242delinsGA p.Phe81Asp Missense 2/23 - 1
4-110862218-CA-GC c.244_245delinsGC p.His82Ala Missense 2/23 - 1
4-110862220-T-G c.246T>G p.His82Gln Missense 2/23 - 1
4-110862222-A-T c.248A>T p.Tyr83Phe Missense 2/23 - 1
4-110862222-A-G c.248A>G p.Tyr83Cys Missense 2/23 - 1
4-110862224-AAT-CAA c.250_252delinsCAA p.Asn84Gln Missense 2/23 - 2
4-110862230-AA-GC c.256_257delinsGC p.Lys86Ala Missense 2/23 - 1
4-110862231-A-G c.257A>G p.Lys86Arg Missense 2/23 - 1
4-110862233-AG-GC c.259_260delinsGC p.Arg87Ala Missense 2/23 - 1
4-110862245-GT-TC c.271_272delinsTC p.Val91Ser Missense 2/23 - 1
4-110862248-G-A c.274G>A p.Asp92Asn Missense 2/23 - 1
4-110862256-A-G c.282A>G p.Glu94Glu Synonymous 2/23 - 1
4-110862257-A-T c.283A>T p.Arg95* Nonsense 2/23 - 1
4-110862257-AG-GA c.283_284delinsGA p.Arg95Glu Missense 2/23 - 1
4-110862257-AG-GC c.283_284delinsGC p.Arg95Ala Missense 2/23 - 2
4-110862261-A-C c.287A>C p.Gln96Pro Missense 2/23 - 1
4-110862270-A-T c.296A>T p.Gln99Leu Missense 2/23 - 1
4-110862272-AG-GC c.298_299delinsGC p.Arg100Ala Missense 2/23 - 1
4-110862273-G-C c.299G>C p.Arg100Thr Missense 2/23 - 1
4-110862284-AAT-GAG c.310_312delinsGAG p.Asn104Glu Missense 2/23 - 1
4-110862285-A-G c.311A>G p.Asn104Ser Missense 2/23 - 1
4-110862288-GG-AC c.314_315delinsAC p.Gly105Asp Missense 2/23 - 1
4-110862290-TC-GA c.316_317inv p.Ser106Glu Missense 2/23 - 1
4-110862290-T-C c.316T>C p.Ser106Pro Missense 2/23 - 1
4-110862290-T-G c.316T>G p.Ser106Ala Missense 2/23 - 2
4-110862293-A-G c.319A>G p.Arg107Gly Missense 2/23 - 1
4-110862297-A-G c.323A>G p.Gln108Arg Missense 2/23 - 1
4-110862299-G-A c.325G>A p.Glu109Lys Missense 2/23 - 1
4-110863669-G-T c.328-741G>T - IntronicSNV - 2/22 1
4-110863669-G-A c.328-741G>A - IntronicSNV - 2/22 1
4-110864410-AG-GC c.328_329delinsGC p.Arg110Ala Missense 3/23 - 1
4-110864410-A-G c.328A>G p.Arg110Gly Missense 3/23 - 1
4-110864410-AGA-TGT c.328_330delinsTGT p.Arg110Cys Missense 3/23 - 1
4-110864416-TG-AC c.334_335delinsAC p.Cys112Thr Missense 3/23 - 1
4-110864417-G-C c.335G>C p.Cys112Ser Missense 3/23 - 1
4-110864416-T-A c.334T>A p.Cys112Ser Missense 3/23 - 1
4-110864416-T-C c.334T>C p.Cys112Arg Missense 3/23 - 2
4-110864420-A-T c.338A>T p.Asn113Ile Missense 3/23 - 1
4-110864426-A-C c.344A>C p.Glu115Ala Missense 3/23 - 1
4-110864427-G-C c.345G>C p.Glu115Asp Missense 3/23 - 1
4-110864427-G-T c.345G>T p.Glu115Asp Missense 3/23 - 1
4-110864428-AAA-TGT c.346_348delinsTGT p.Lys116Cys Missense 3/23 - 1
4-110864428-AA-GC c.346_347delinsGC p.Lys116Ala Missense 3/23 - 1
4-110864429-A-G c.347A>G p.Lys116Arg Missense 3/23 - 1
4-110864431-AAT-CAA c.349_351delinsCAA p.Asn117Gln Missense 3/23 - 1
4-110864437-T-G c.355T>G p.Ser119Ala Missense 3/23 - 2
4-110864440-G-C c.358G>C p.Gly120Arg Missense 3/23 - 3
4-110864440-G-A c.358G>A p.Gly120Arg Missense 3/23 - 3
4-110864440-GG-AA c.358_359delinsAA p.Gly120Lys Missense 3/23 - 1
4-110864441-G-C c.359G>C p.Gly120Ala Missense 3/23 - 1
4-110864444-T-G c.362T>G p.Met121Arg Missense 3/23 - 1
4-110864447-C-G c.365C>G p.Ala122Gly Missense 3/23 - 1
4-110864447-CA-AC c.365_366delinsAC p.Ala122Asp Missense 3/23 - 1
4-110864449-A-G c.367A>G p.Ile123Val Missense 3/23 - 1
4-110864453-A-T c.371A>T p.Asn124Ile Missense 3/23 - 3
4-110864479-T-G c.397T>G p.Ser133Ala Missense 3/23 - 5
4-110864488-C-T c.406C>T p.Gln136* Nonsense 3/23 - 1
4-110864492-A-C c.410A>C p.Glu137Ala Missense 3/23 - 2
4-110864494-GGA-AAC c.412_414delinsAAC p.Gly138Asn Missense 3/23 - 1
4-110864495-G-A c.413G>A p.Gly138Glu Missense 3/23 - 1
4-110864500-AT-GA c.418_419delinsGA p.Ile140Asp Missense 3/23 - 1
4-110864501-T-A c.419T>A p.Ile140Asn Missense 3/23 - 1
4-110864513-A-C c.431A>C p.Asp144Ala Missense 3/23 - 1
4-110864515-AT-GC c.433_434delinsGC p.Met145Ala Missense 3/23 - 1
4-110864518-AA-GC c.436_437delinsGC p.Lys146Ala Missense 3/23 - 1
4-110864522-G-C c.440G>C p.Gly147Ala Missense 3/23 - 1
4-110864524-AA-GC c.442_443delinsGC p.Asn148Ala Missense 3/23 - 1
4-110864525-A-C c.443A>C p.Asn148Thr Missense 3/23 - 1
4-110864527-A-G c.445A>G p.Asn149Asp Missense 3/23 - 1
4-110864529-T-G c.447T>G p.Asn149Lys Missense 3/23 - 1
4-110864529-T-A c.447T>A p.Asn149Lys Missense 3/23 - 1
4-110864530-T-G c.448T>G p.Ser150Ala Missense 3/23 - 2
4-110864536-A-C c.454A>C p.Ile152Leu Missense 3/23 - 2
4-110864545-AG-GC c.463_464delinsGC p.Ser155Ala Missense 3/23 - 1
4-110864554-AA-GC c.472_473delinsGC p.Lys158Ala Missense 3/23 - 2
4-110864555-A-G c.473A>G p.Lys158Arg Missense 3/23 - 2
4-110864558-A-G c.476A>G p.Tyr159Cys Missense 3/23 - 1
4-110864560-C-T c.478C>T p.Pro160Ser Missense 3/23 - 2
4-110864560-CC-GT c.478_479delinsGT p.Pro160Val Missense 3/23 - 1
4-110864563-G-A c.481G>A p.Ala161Thr Missense 3/23 - 1
4-110864564-C-A c.482C>A p.Ala161Glu Missense 3/23 - 1
4-110864566-A-G c.484A>G p.Asn162Asp Missense 3/23 - 1
4-110864569-GT-TC c.487_488delinsTC p.Val163Ser Missense 3/23 - 2
4-110864570-T-C c.488T>C p.Val163Ala Missense 3/23 - 1
4-110864578-GAT-AAG c.496_498delinsAAG p.Asp166Lys Missense 3/23 - 1
4-110864579-A-C c.497A>C p.Asp166Ala Missense 3/23 - 1
4-110864580-ATCCAGTAGA-A c.498_506del p.Asp166_Val168del InFrameDeletion 3/23 - 1
4-110864584-GT-CC c.502_503delinsCC p.Val168Pro Missense 3/23 - 1
4-110864590-AG-GC c.508_509delinsGC p.Arg170Ala Missense 3/23 - 2
4-110864590-AG-GA c.508_509delinsGA p.Arg170Glu Missense 3/23 - 1
4-110864590-AG-CT c.508_509inv p.Arg170Leu Missense 3/23 - 2
4-110864999-TT-GC c.511_512delinsGC p.Phe171Ala Missense 4/23 - 1
4-110865000-T-G c.512T>G p.Phe171Cys Missense 4/23 - 2
4-110865006-T-C c.518T>C p.Phe173Ser Missense 4/23 - 1
4-110865008-TG-GC c.520_521delinsGC p.Trp174Ala Missense 4/23 - 1
4-110865011-TC-GG c.523_524delinsGG p.Ser175Gly Missense 4/23 - 1
4-110865014-T-G c.526T>G p.Ser176Ala Missense 4/23 - 3
4-110865029-AGC-GAG c.541_543delinsGAG p.Ser181Glu Missense 4/23 - 1
4-110865029-AG-GA c.541_542delinsGA p.Ser181Asp Missense 4/23 - 5
4-110865029-AG-GC c.541_542delinsGC p.Ser181Ala Missense 4/23 - 6
4-110865032-C-T c.544C>T p.Leu182Phe Missense 4/23 - 1
4-110865035-T-G c.547T>G p.Tyr183Asp Missense 4/23 - 1
4-110865035-TA-GC c.547_548delinsGC p.Tyr183Ala Missense 4/23 - 1
4-110865036-A-T c.548A>T p.Tyr183Phe Missense 4/23 - 1
4-110865038-A-G c.550A>G p.Arg184Gly Missense 4/23 - 1
4-110865039-G-A c.551G>A p.Arg184Lys Missense 4/23 - 1
4-110865051-GATGGTGTGGGAGTGAAGGCTCTGTTGGAGACATCAGAGAAAATAACAGCTGTGTCATTG-G c.563_621del p.Asp188Glyfs*4 MultiAAMissense 4/23 - 1
4-110865053-G-C c.565G>C p.Gly189Arg Missense 4/23 - 1
4-110865054-GT-AG c.566_567delinsAG p.Gly189Glu Missense 4/23 - 6
4-110865059-G-GTT c.571_572insTT p.Gly191Valfs*3 Frameshift 4/23 - 1
4-110865062-GTG-ATC c.574_576delinsATC p.Val192Ile Missense 4/23 - 1
4-110865065-AA-GC c.577_578delinsGC p.Lys193Ala Missense 4/23 - 1
4-110865074-TT-CC c.586_587delinsCC p.Leu196Pro Missense 4/23 - 3
4-110865080-ACA-GAC c.592_594delinsGAC p.Thr198Asp Missense 4/23 - 1
4-110865080-A-G c.592A>G p.Thr198Ala Missense 4/23 - 4
4-110865080-AC-GA c.592_593delinsGA p.Thr198Glu Missense 4/23 - 1
4-110865089-AA-CC c.601_602delinsCC p.Lys201Pro Missense 4/23 - 1
4-110865089-AA-GC c.601_602delinsGC p.Lys201Ala Missense 4/23 - 4
4-110865095-ACA-TAT c.607_609delinsTAT p.Thr203Tyr Missense 4/23 - 2
4-110865095-AC-GT c.607_608inv p.Thr203Val Missense 4/23 - 1
4-110865096-C-A c.608C>A p.Thr203Lys Missense 4/23 - 1
4-110865102-T-C c.614T>C p.Val205Ala Missense 4/23 - 1
4-110865102-T-G c.614T>G p.Val205Gly Missense 4/23 - 1
4-110865104-TC-AG c.616_617delinsAG p.Ser206Arg Missense 4/23 - 1
4-110865105-CA-GT c.617_618delinsGT p.Ser206Cys Missense 4/23 - 1
4-110865110-G-A c.622G>A p.Asp208Asn Missense 4/23 - 1
4-110865116-C-T c.628C>T p.Leu210Phe Missense 4/23 - 1
4-110865122-AA-GC c.634_635delinsGC p.Lys212Ala Missense 4/23 - 1
4-110865125-CG-AA c.637_638delinsAA p.Arg213Lys Missense 4/23 - 1
4-110865136-G-A c.648G>A p.Trp216* Nonsense 4/23 - 1
4-110865135-G-A c.647G>A p.Trp216* Nonsense 4/23 - 1
4-110865140-CA-GC c.652_653delinsGC p.Gln218Ala Missense 4/23 - 1
4-110865143-TA-GC c.655_656delinsGC p.Tyr219Ala Missense 4/23 - 2
4-110865144-A-T c.656A>T p.Tyr219Phe Missense 4/23 - 1
4-110865149-AG-GC c.661_662delinsGC p.Arg221Ala Missense 4/23 - 1
4-110865152-G-C c.664G>C p.Glu222Gln Missense 4/23 - 1
4-110865158-AG-GC c.670_671delinsGC p.Ser224Ala Missense 4/23 - 1
4-110865164-T-G c.676T>G p.Ser226Ala Missense 4/23 - 1
4-110865173-T-A c.685T>A p.Cys229Ser Missense 4/23 - 3
4-110865174-G-C c.686G>C p.Cys229Ser Missense 4/23 - 3
4-110865176-T-G c.688T>G p.Ser230Ala Missense 4/23 - 1
4-110865185-T-C c.697T>C p.Tyr233His Missense 4/23 - 1
4-110865185-TAT-GAG c.697_699delinsGAG p.Tyr233Glu Missense 4/23 - 1
4-110865186-A-G c.698A>G p.Tyr233Cys Missense 4/23 - 1
4-110865186-A-T c.698A>T p.Tyr233Phe Missense 4/23 - 3
4-110865195-G-C c.707G>C p.Gly236Ala Missense 4/23 - 1
4-110865195-G-A c.707G>A p.Gly236Asp Missense 4/23 - 1
4-110865209-AG-GA c.721_722delinsGA p.Ser241Asp Missense 4/23 - 4
4-110865218-C-G c.730C>G p.Pro244Ala Missense 4/23 - 1
4-110865221-ACA-GAC c.733_735delinsGAC p.Thr245Asp Missense 4/23 - 1
4-110866248-T-G c.757T>G p.Ser253Ala Missense 5/23 - 1
4-110866251-CTT-TAA c.760_762delinsTAA p.Leu254* Nonsense 5/23 - 1
4-110866254-TTTT-T c.763_765del p.Phe255del InFrameDeletion 5/23 - 1
4-110866257-G-T c.766G>T p.Gly256Cys Missense 5/23 - 1
4-110866257-G-A c.766G>A p.Gly256Ser Missense 5/23 - 1
4-110866261-A-C c.770A>C p.Asp257Ala Missense 5/23 - 3
4-110866264-GT-AA c.773_774delinsAA p.Arg258Gln Missense 5/23 - 1
4-110866269-TT-GC c.778_779delinsGC p.Phe260Ala Missense 5/23 - 2
4-110866272-TA-GC c.781_782delinsGC p.Tyr261Ala Missense 5/23 - 12
4-110866273-A-G c.782A>G p.Tyr261Cys Missense 5/23 - 1
4-110866273-A-T c.782A>T p.Tyr261Phe Missense 5/23 - 2
4-110866275-T-G c.784T>G p.Ser262Ala Missense 5/23 - 2
4-110866275-TCA-GAC c.784_786delinsGAC p.Ser262Asp Missense 5/23 - 2
4-110866278-A-C c.787A>C p.Thr263Pro Missense 5/23 - 1
4-110866281-TG-AA c.790_791delinsAA p.Trp264Lys Missense 5/23 - 1
4-110866284-A-C c.793A>C p.Lys265Gln Missense 5/23 - 1
4-110866284-A-G c.793A>G p.Lys265Glu Missense 5/23 - 1
4-110866285-A-C c.794A>C p.Lys265Thr Missense 5/23 - 1
4-110866311-A-G c.820A>G p.Lys274Glu Missense 5/23 - 1
4-110866323-A-T c.832A>T p.Lys278* Nonsense 5/23 - 1
4-110866324-A-G c.833A>G p.Lys278Arg Missense 5/23 - 2
4-110866326-GA-TG c.835_836delinsTG p.Asp279Cys Missense 5/23 - 3
4-110866327-A-C c.836A>C p.Asp279Ala Missense 5/23 - 2
4-110866335-AGA-GAC c.844_846delinsGAC p.Arg282Asp Missense 5/23 - 1
4-110866335-AG-GC c.844_845delinsGC p.Arg282Ala Missense 5/23 - 1
4-110866344-CTC-ATG c.853_855delinsATG p.Leu285Met Missense 5/23 - 1
4-110866351-C-T c.860C>T p.Ser287Leu Missense 5/23 - 1
4-110866353-T-G c.862T>G p.Ser288Ala Missense 5/23 - 3
4-110866353-TC-GA c.862_863inv p.Ser288Glu Missense 5/23 - 1
4-110866354-CA-GT c.863_864delinsGT p.Ser288Cys Missense 5/23 - 5
4-110866359-GTA-ATG c.868_870delinsATG p.Val290Met Missense 5/23 - 2
4-110866360-T-C c.869T>C p.Val290Ala Missense 5/23 - 1
4-110866365-CT-GC c.874_875delinsGC p.Leu292Ala Missense 5/23 - 1
4-110866365-C-T c.874C>T p.Leu292Phe Missense 5/23 - 1
4-110866366-T-G c.875T>G p.Leu292Arg Missense 5/23 - 1
4-110866368-G-A c.877G>A p.Gly293Ser Missense 5/23 - 1
4-110866374-CT-GC c.883_884delinsGC p.Leu295Ala Missense 5/23 - 1
4-110866377-A-G c.886A>G p.Lys296Glu Missense 5/23 - 2
4-110866378-A-G c.887A>G p.Lys296Arg Missense 5/23 - 17
4-110866378-AA-TG c.887_888delinsTG p.Lys296Met Missense 5/23 - 1
4-110866383-GTG-TTT c.892_894delinsTTT p.Val298Phe Missense 5/23 - 1
4-110866390-C-T c.899C>T p.Pro300Leu Missense 5/23 - 1
4-110866392-CT-AG c.901_902inv p.Leu301Ser Missense 5/23 - 1
4-110866394-T-TT c.903dup p.Ala302Cysfs*8 Frameshift 5/23 - 1
4-110866401-C-T c.910C>T p.Pro304Ser Missense 5/23 - 1
4-110866401-C-G c.910C>G p.Pro304Ala Missense 5/23 - 2
4-110866404-AA-GC c.913_914delinsGC p.Lys305Ala Missense 5/23 - 1
4-110866414-A-C c.923A>C p.Asp308Ala Missense 5/23 - 1
4-110866416-GAC-AAG c.925_927delinsAAG p.Asp309Lys Missense 5/23 - 1
4-110866416-G-A c.925G>A p.Asp309Asn Missense 5/23 - 2
4-110866417-A-C c.926A>C p.Asp309Ala Missense 5/23 - 1
4-110866419-A-G c.928A>G p.Thr310Ala Missense 5/23 - 2
4-110866419-ACT-GAG c.928_930delinsGAG p.Thr310Glu Missense 5/23 - 1
4-110866425-G-A c.934G>A p.Glu312Lys Missense 5/23 - 1
4-110866425-G-C c.934G>C p.Glu312Gln Missense 5/23 - 1
4-110866442-G-T c.940+11G>T - IntronicSNV - 5/22 2
4-110866442-G-A c.940+11G>A - IntronicSNV - 5/22 2
4-110870765-T-C c.940+4334T>C - IntronicSNV - 5/22 1
4-110873926-T-C c.941-6542T>C - IntronicSNV - 5/22 1
4-110875590-C-G c.941-4878C>G - IntronicSNV - 5/22 1
4-110880364-T-C c.941-104T>C - IntronicSNV - 5/22 1
4-110880471-A-G c.944A>G p.Gln315Arg Missense 6/23 - 1
4-110880472-G-A c.945G>A p.Gln315Gln Synonymous 6/23 - 1
4-110880479-T-G c.952T>G p.Cys318Gly Missense 6/23 - 1
4-110880479-TG-GC c.952_953delinsGC p.Cys318Ala Missense 6/23 - 1
4-110880484-A-T c.957A>T p.Lys319Asn Missense 6/23 - 1
4-110880484-A-C c.957A>C p.Lys319Asn Missense 6/23 - 1
4-110880486-T-C c.959T>C p.Leu320Ser Missense 6/23 - 1
4-110880488-AG-GC c.961_962delinsGC p.Arg321Ala Missense 6/23 - 1
4-110880491-AAA-GAC c.964_966delinsGAC p.Lys322Asp Missense 6/23 - 1
4-110880491-AA-GC c.964_965delinsGC p.Lys322Ala Missense 6/23 - 2
4-110880494-GGA-AGC c.967_969delinsAGC p.Gly323Ser Missense 6/23 - 1
4-110880495-G-T c.968G>T p.Gly323Val Missense 6/23 - 1
4-110880495-G-C c.968G>C p.Gly323Ala Missense 6/23 - 3
4-110880503-A-T c.976A>T p.Ser326Cys Missense 6/23 - 2
4-110880506-AG-GC c.979_980delinsGC p.Ser327Ala Missense 6/23 - 1
4-110880510-C-T c.983C>T p.Thr328Ile Missense 6/23 - 1
4-110880510-CT-GG c.983_984delinsGG p.Thr328Arg Missense 6/23 - 1
4-110880510-CT-AG c.983_984inv p.Thr328Lys Missense 6/23 - 1
4-110880515-T-A c.988T>A p.Cys330Ser Missense 6/23 - 1
4-110880516-G-C c.989G>C p.Cys330Ser Missense 6/23 - 1
4-110880521-C-T c.994C>T p.Gln332* Nonsense 6/23 - 1
4-110880521-CA-TC c.994_995delinsTC p.Gln332Ser Missense 6/23 - 5
4-110880537-A-G c.1010A>G p.His337Arg Missense 6/23 - 1
4-110880569-AG-GC c.1042_1043delinsGC p.Ser348Ala Missense 6/23 - 1
4-110880572-CG-GC c.1045_1046delinsGC p.Arg349Ala Missense 6/23 - 1
4-110880572-CGA-GAC c.1045_1047delinsGAC p.Arg349Asp Missense 6/23 - 2
4-110880578-CGG-GAC c.1051_1053delinsGAC p.Arg351Asp Missense 6/23 - 2
4-110880578-C-T c.1051C>T p.Arg351Trp Missense 6/23 - 1
4-110880578-CG-GC c.1051_1052delinsGC p.Arg351Ala Missense 6/23 - 1
4-110880584-TAC-GAG c.1057_1059delinsGAG p.Tyr353Glu Missense 6/23 - 1
4-110880585-A-T c.1058A>T p.Tyr353Phe Missense 6/23 - 3
4-110880593-G-A c.1066G>A p.Asp356Asn Missense 6/23 - 1
4-110882025-GTT-CAA c.1069_1071delinsCAA p.Val357Gln Missense 7/23 - 1
4-110882026-T-G c.1070T>G p.Val357Gly Missense 7/23 - 1
4-110882034-TG-GC c.1078_1079delinsGC p.Cys360Ala Missense 7/23 - 6
4-110882036-GTG-G c.1080_1081del p.Ala361Phefs*11 Frameshift 7/23 - 1
4-110882040-TT-GC c.1084_1085delinsGC p.Phe362Ala Missense 7/23 - 1
4-110882053-G-A c.1097G>A p.Gly366Asp Missense 7/23 - 1
4-110882079-CC-GT c.1123_1124delinsGT p.Pro375Val Missense 7/23 - 2
4-110882079-C-T c.1123C>T p.Pro375Ser Missense 7/23 - 1
4-110882083-GG-G c.1127del p.Gly376Aspfs*9 Frameshift 7/23 - 1
4-110882089-A-T c.1133A>T p.Tyr378Phe Missense 7/23 - 1
4-110882095-TG-T c.1139del p.Cys380Serfs*5 Frameshift 7/23 - 1
4-110882097-AC-GT c.1141_1142inv p.Thr381Val Missense 7/23 - 1
4-110882103-C-T c.1147C>T p.Pro383Ser Missense 7/23 - 2
4-110882121-CT-GC c.1165_1166delinsGC p.Leu389Ala Missense 7/23 - 1
4-110882124-C-T c.1168C>T p.Pro390Ser Missense 7/23 - 1
4-110882127-G-A c.1171G>A p.Asp391Asn Missense 7/23 - 1
4-110882131-GG-AC c.1175_1176delinsAC p.Gly392Asp Missense 7/23 - 1
4-110882136-C-T c.1180C>T p.Arg394* Nonsense 7/23 - 1
4-110882136-CG-GC c.1180_1181delinsGC p.Arg394Ala Missense 7/23 - 2
4-110882136-CGA-TGG c.1180_1182delinsTGG p.Arg394Trp Missense 7/23 - 1
4-110882140-G-C c.1184G>C p.Cys395Ser Missense 7/23 - 1
4-110882139-T-A c.1183T>A p.Cys395Ser Missense 7/23 - 1
4-110882143-A-C c.1187A>C p.His396Pro Missense 7/23 - 2
4-110882143-A-G c.1187A>G p.His396Arg Missense 7/23 - 1
4-110882590-A-G c.1190-429A>G - IntronicSNV - 7/22 4
4-110883020-AA-A c.1191del p.Gln397Hisfs*18 Frameshift 8/23 - 1
4-110883024-GTT-CAA c.1195_1197delinsCAA p.Val399Gln Missense 8/23 - 1
4-110883027-TCC-AAG c.1198_1200delinsAAG p.Ser400Lys Missense 8/23 - 2
4-110883027-TTC-T c.1198_1199del p.Ser400Leufs*7 Frameshift 8/23 - 1
4-110883027-T-G c.1198T>G p.Ser400Ala Missense 8/23 - 7
4-110883027-TC-GA c.1198_1199inv p.Ser400Asp Missense 8/23 - 1
4-110883031-G-A c.1202G>A p.Cys401Tyr Missense 8/23 - 1
4-110883033-C-G c.1204C>G p.Pro402Ala Missense 8/23 - 8
4-110883034-C-CC c.1205dup p.Arg403Thrfs*5 Frameshift 8/23 - 1
4-110883036-C-T c.1207C>T p.Arg403Cys Missense 8/23 - 1
4-110883037-GC-AA c.1208_1209delinsAA p.Arg403Gln Missense 8/23 - 1
4-110883042-GTG-TGT c.1213_1215delinsTGT p.Val405Cys Missense 8/23 - 1
4-110883049-A-G c.1220A>G p.Glu407Gly Missense 8/23 - 1
4-110883051-T-TT c.1222dup p.Cys408Leufs*4 Frameshift 8/23 - 1
4-110883061-A-C c.1232A>C p.Asp411Ala Missense 8/23 - 1
4-110883063-TG-GC c.1234_1235delinsGC p.Cys412Ala Missense 8/23 - 1
4-110883071-TG-T c.1242del p.Thr415Hisfs*103 Frameshift 8/23 - 1
4-110883075-T-G c.1246T>G p.Ser416Ala Missense 8/23 - 1
4-110883081-GG-CC c.1252_1253inv p.Gly418Pro Missense 8/23 - 1
4-110883081-G-C c.1252G>C p.Gly418Arg Missense 8/23 - 1
4-110883082-G-A c.1253G>A p.Gly418Asp Missense 8/23 - 1
4-110883090-TG-GC c.1261_1262delinsGC p.Cys421Ala Missense 8/23 - 3
4-110883093-TTT-T c.1264_1265del p.Phe422Leufs*3 Frameshift 8/23 - 1
4-110883093-TT-GC c.1264_1265delinsGC p.Phe422Ala Missense 8/23 - 2
4-110883097-G-T c.1268G>T p.Cys423Phe Missense 8/23 - 1
4-110883099-C-G c.1270C>G p.Pro424Ala Missense 8/23 - 3
4-110883105-G-A c.1276G>A p.Gly426Ser Missense 8/23 - 1
4-110883108-TC-GG c.1279_1280delinsGG p.Ser427Gly Missense 8/23 - 1
4-110883108-T-G c.1279T>G p.Ser427Ala Missense 8/23 - 1
4-110883110-A-AT c.1281_1282insT p.Val428Cysfs*3 Frameshift 8/23 - 1
4-110883114-CT-GC c.1285_1286delinsGC p.Leu429Ala Missense 8/23 - 2
4-110883118-A-G c.1289A>G p.Glu430Gly Missense 8/23 - 1
4-110883121-G-A c.1292G>A p.Arg431Lys Missense 8/23 - 6
4-110883124-A-C c.1295A>C p.Asp432Ala Missense 8/23 - 1
4-110883133-CA-TG c.1304_1305inv p.Thr435Met Missense 8/23 - 1
4-110883138-AG-GC c.1309_1310delinsGC p.Ser437Ala Missense 8/23 - 1
4-110884334-TC-CT c.1318_1319delinsCT p.Ser440Leu Missense 9/23 - 1
4-110884334-T-G c.1318T>G p.Ser440Ala Missense 9/23 - 1
4-110884335-C-A c.1319C>A p.Ser440Tyr Missense 9/23 - 1
4-110884353-G-T c.1337G>T p.Gly446Val Missense 9/23 - 1
4-110884355-TG-GC c.1339_1340delinsGC p.Cys447Ala Missense 9/23 - 1
4-110884358-AGC-GAG c.1342_1344delinsGAG p.Ser448Glu Missense 9/23 - 1
4-110884358-AG-GC c.1342_1343delinsGC p.Ser448Ala Missense 9/23 - 1
4-110884367-TG-GC c.1351_1352delinsGC p.Cys451Ala Missense 9/23 - 6
4-110884381-C-G c.1365C>G p.Ser455Arg Missense 9/23 - 1
4-110884388-T-G c.1372T>G p.Ser458Ala Missense 9/23 - 1
4-110884398-G-A c.1382G>A p.Cys461Tyr Missense 9/23 - 2
4-110884403-T-A c.1387T>A p.Cys463Ser Missense 9/23 - 1
4-110884404-G-C c.1388G>C p.Cys463Ser Missense 9/23 - 1
4-110884410-C-T c.1394C>T p.Pro465Leu Missense 9/23 - 1
4-110884413-G-C c.1397G>C p.Gly466Ala Missense 9/23 - 3
4-110884413-G-T c.1397G>T p.Gly466Val Missense 9/23 - 1
4-110884424-CA-GC c.1408_1409delinsGC p.Gln470Ala Missense 9/23 - 1
4-110884424-CAA-ATG c.1408_1410delinsATG p.Gln470Met Missense 9/23 - 1
4-110884429-G-A c.1413G>A p.Leu471Leu Synonymous 9/23 - 1
4-110884431-A-T c.1415A>T p.Asp472Val Missense 9/23 - 1
4-110884434-A-C c.1418A>C p.Glu473Ala Missense 9/23 - 1
4-110884439-AG-GC c.1423_1424delinsGC p.Ser475Ala Missense 9/23 - 1
4-110884439-A-AA c.1423dup p.Ser475Lysfs*25 Frameshift 9/23 - 1
4-110884450-CTTCAGGTTAGTGCTGTGGTTGTCTGGAACTGTGTCCCTGAAAAAAAATTCATGAAAATC-C c.1436_1438+56del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 9/23 9/22 1
4-110885571-TTT-T c.1453_1454del p.Leu485Alafs*14 Frameshift 10/23 - 1
4-110885573-G-GGT c.1455_1456insGT p.Leu486Valfs*33 Frameshift 10/23 - 1
4-110885574-C-CC c.1456dup p.Leu486Profs*14 Frameshift 10/23 - 1
4-110885578-TTT-T c.1460_1461del p.Phe487Cysfs*12 Frameshift 10/23 - 1
4-110885579-TTG-T c.1461_1462del p.Ala488Glnfs*11 Frameshift 10/23 - 1
4-110885580-GC-TT c.1462_1463delinsTT p.Ala488Phe Missense 10/23 - 1
4-110885586-TC-GA c.1468_1469inv p.Ser490Asp Missense 10/23 - 1
4-110885586-T-G c.1468T>G p.Ser490Ala Missense 10/23 - 2
4-110885589-CA-AC c.1471_1472delinsAC p.Gln491Thr Missense 10/23 - 1
4-110885592-GAT-ATG c.1474_1476delinsATG p.Asp492Met Missense 10/23 - 3
4-110885598-C-T c.1480C>T p.Arg494* Nonsense 10/23 - 1
4-110885599-G-A c.1481G>A p.Arg494Gln Missense 10/23 - 1
4-110885603-ACA-A c.1485_1486del p.Met496Alafs*3 Frameshift 10/23 - 1
4-110885607-C-T c.1489C>T p.His497Tyr Missense 10/23 - 1
4-110885616-GG-CA c.1498_1499delinsCA p.Gly500Gln Missense 10/23 - 2
4-110885617-G-C c.1499G>C p.Gly500Ala Missense 10/23 - 1
4-110885620-C-T c.1502C>T p.Thr501Ile Missense 10/23 - 1
4-110885634-CT-GC c.1516_1517delinsGC p.Leu506Ala Missense 10/23 - 1
4-110885640-AG-GA c.1522_1523delinsGA p.Ser508Asp Missense 10/23 - 1
4-110885640-A-AA c.1522dup p.Ser508Lysfs*13 Frameshift 10/23 - 1
4-110885641-G-A c.1523G>A p.Ser508Asn Missense 10/23 - 1
4-110885644-CA-C c.1526del p.Gln509Argfs*9 Frameshift 10/23 - 1
4-110885646-C-G c.1528C>G p.Gln510Glu Missense 10/23 - 1
4-110885646-C-T c.1528C>T p.Gln510* Nonsense 10/23 - 1
4-110885651-G-T c.1533G>T p.Met511Ile Missense 10/23 - 1
4-110885651-G-C c.1533G>C p.Met511Ile Missense 10/23 - 1
4-110885651-G-A c.1533G>A p.Met511Ile Missense 10/23 - 1
4-110885656-ATG-A c.1538_1539del p.Met513Serfs*7 Frameshift 10/23 - 1
4-110885662-A-T c.1544A>T p.Tyr515Phe Missense 10/23 - 2
4-110885667-CT-GC c.1549_1550delinsGC p.Leu517Ala Missense 10/23 - 1
4-110885676-GA-CT c.1558_1559delinsCT p.Asp520Leu Missense 10/23 - 1
4-110885683-GTG-G c.1565_1566del p.Val522Glyfs*3 Frameshift 10/23 - 1
4-110885686-A-C c.1568A>C p.Glu523Ala Missense 10/23 - 1
4-110885688-AAT-CAA c.1570_1572delinsCAA p.Asn524Gln Missense 10/23 - 2
4-110886343-G-C c.1575+650G>C - IntronicSNV - 10/22 2
4-110890130-TAC-GAG c.1579_1581delinsGAG p.Tyr527Glu Missense 11/23 - 1
4-110890131-A-T c.1580A>T p.Tyr527Phe Missense 11/23 - 77
4-110890151-AA-GC c.1600_1601delinsGC p.Lys534Ala Missense 11/23 - 1
4-110890167-C-G c.1616C>G p.Ala539Gly Missense 11/23 - 1
4-110890181-T-G c.1630T>G p.Ser544Ala Missense 11/23 - 1
4-110890193-AG-TA c.1642_1643delinsTA p.Arg548* Nonsense 11/23 - 1
4-110890194-G-A c.1643G>A p.Arg548Lys Missense 11/23 - 1
4-110890206-A-C c.1655A>C p.Glu552Ala Missense 11/23 - 2
4-110890208-GGA-AGC c.1657_1659delinsAGC p.Gly553Ser Missense 11/23 - 1
4-110890211-G-T c.1660G>T p.Val554Leu Missense 11/23 - 1
4-110890216-T-G c.1665T>G p.Asp555Glu Missense 11/23 - 1
4-110890229-TC-T c.1678del p.Ala561Leufs*18 Frameshift 11/23 - 1
4-110890232-GC-TG c.1681_1682delinsTG p.Ala561Cys Missense 11/23 - 4
4-110890233-C-G c.1682C>G p.Ala561Gly Missense 11/23 - 1
4-110890239-A-C c.1688A>C p.Asp563Ala Missense 11/23 - 5
4-110890245-T-C c.1694T>C p.Ile565Thr Missense 11/23 - 1
4-110890264-G-GG c.1713dup p.Thr572Aspfs*12 Frameshift 11/23 - 1
4-110890264-GG-G c.1713del p.Trp571* Frameshift 11/23 - 1
4-110890264-GGA-G c.1713_1714del p.Trp571Cysfs*12 Frameshift 11/23 - 1
4-110890265-A-G c.1714A>G p.Thr572Ala Missense 11/23 - 2
4-110890271-AG-CC c.1720_1721delinsCC p.Arg574Pro Missense 11/23 - 1
4-110891543-A-C c.1724+1268A>C - IntronicSNV - 11/22 1
4-110891673-T-C c.1724+1398T>C - IntronicSNV - 11/22 1
4-110892012-T-G c.1724+1737T>G - IntronicSNV - 11/22 1
4-110892012-T-A c.1724+1737T>A - IntronicSNV - 11/22 1
4-110895860-A-T c.1726A>T p.Lys576* Nonsense 12/23 - 1
4-110895861-A-G c.1727A>G p.Lys576Arg Missense 12/23 - 1
4-110895863-T-A c.1729T>A p.Ser577Thr Missense 12/23 - 1
4-110895878-AG-TA c.1744_1745delinsTA p.Ser582Tyr Missense 12/23 - 1
4-110895878-AG-GC c.1744_1745delinsGC p.Ser582Ala Missense 12/23 - 1
4-110895881-TG-T c.1747del p.Asp583Ilefs*2 Frameshift 12/23 - 1
4-110895891-G-A c.1757G>A p.Gly586Glu Missense 12/23 - 1
4-110895896-CG-GC c.1762_1763delinsGC p.Arg588Ala Missense 12/23 - 1
4-110895902-A-G c.1768A>G p.Lys590Glu Missense 12/23 - 1
4-110895902-AA-GC c.1768_1769delinsGC p.Lys590Ala Missense 12/23 - 1
4-110895903-A-G c.1769A>G p.Lys590Arg Missense 12/23 - 1
4-110895903-AA-GC c.1769_1770delinsGC p.Lys590Ser Missense 12/23 - 6
4-110895906-TA-GC c.1772_1773delinsGC p.Ile591Ser Missense 12/23 - 1
4-110895922-C-A c.1788C>A p.Asn596Lys Missense 12/23 - 1
4-110895922-C-G c.1788C>G p.Asn596Lys Missense 12/23 - 1
4-110895924-T-G c.1790T>G p.Ile597Ser Missense 12/23 - 1
4-110895936-G-A c.1802G>A p.Arg601Gln Missense 12/23 - 1
4-110895954-C-T c.1820C>T p.Pro607Leu Missense 12/23 - 1
4-110895962-AA-GC c.1828_1829delinsGC p.Lys610Ala Missense 12/23 - 1
4-110897181-A-G c.1843A>G p.Thr615Ala Missense 13/23 - 1
4-110897181-AC-TG c.1843_1844delinsTG p.Thr615Cys Missense 13/23 - 1
4-110897208-GA-AG c.1870_1871delinsAG p.Glu624Arg Missense 13/23 - 1
4-110897212-G-A c.1874G>A p.Ser625Asn Missense 13/23 - 2
4-110897229-CT-TG c.1891_1892delinsTG p.Leu631Cys Missense 13/23 - 1
4-110897235-CG-GC c.1897_1898delinsGC p.Arg633Ala Missense 13/23 - 1
4-110897236-CGTC-C c.1898_1900del p.Arg633del InFrameDeletion 13/23 - 1
4-110897236-G-A c.1898G>A p.Arg633His Missense 13/23 - 2
4-110897241-GTT-ATG c.1903_1905delinsATG p.Val635Met Missense 13/23 - 2
4-110897247-GC-TG c.1909_1910delinsTG p.Ala637Cys Missense 13/23 - 1
4-110897250-AG-GC c.1912_1913delinsGC p.Ser638Ala Missense 13/23 - 1
4-110897271-AG-TT c.1933_1934delinsTT p.Ser645Phe Missense 13/23 - 1
4-110897271-AG-GC c.1933_1934delinsGC p.Ser645Ala Missense 13/23 - 1
4-110897275-GA-AC c.1937_1938delinsAC p.Gly646Asp Missense 13/23 - 1
4-110897315-C-T c.1977C>T p.Cys659Cys Synonymous 13/23 - 2
4-110897317-A-C c.1979A>C p.Asp660Ala Missense 13/23 - 1
4-110897323-A-G c.1985A>G p.Lys662Arg Missense 13/23 - 2
4-110897331-G-A c.1993G>A p.Val665Met Missense 13/23 - 8
4-110897332-T-C c.1994T>C p.Val665Ala Missense 13/23 - 1
4-110897338-A-T c.2000A>T p.Glu667Val Missense 13/23 - 1
4-110897358-TCA-AAC c.2020_2022delinsAAC p.Ser674Asn Missense 13/23 - 1
4-110897358-T-G c.2020T>G p.Ser674Ala Missense 13/23 - 1
4-110897359-CA-GT c.2021_2022delinsGT p.Ser674Cys Missense 13/23 - 1
4-110897364-CG-AT c.2026_2027delinsAT p.Arg676Ile Missense 13/23 - 1
4-110897364-C-T c.2026C>T p.Arg676Cys Missense 13/23 - 1
4-110897367-CGA-ATG c.2029_2031delinsATG p.Arg677Met Missense 13/23 - 1
4-110897382-AA-GC c.2044_2045delinsGC p.Asn682Ala Missense 13/23 - 5
4-110897386-A-C c.2048A>C p.Asp683Ala Missense 13/23 - 8
4-110897535-G-A c.2053+144G>A - IntronicSNV - 13/22 1
4-110901143-TA-AC c.2069_2070delinsAC p.Val690Asp Missense 14/23 - 1
4-110901147-A-G c.2073A>G p.Ala691Ala Synonymous 14/23 - 1
4-110901154-G-A c.2080G>A p.Glu694Lys Missense 14/23 - 1
4-110901161-A-T c.2087A>T p.Tyr696Phe Missense 14/23 - 1
4-110901181-GC-CT c.2107_2108delinsCT p.Ala703Leu Missense 14/23 - 1
4-110901181-GC-TT c.2107_2108delinsTT p.Ala703Phe Missense 14/23 - 1
4-110901182-C-T c.2108C>T p.Ala703Val Missense 14/23 - 1
4-110901188-C-T c.2114C>T p.Pro705Leu Missense 14/23 - 1
4-110901198-G-A c.2124G>A p.Met708Ile Missense 14/23 - 15
4-110901199-AGA-TGT c.2125_2127delinsTGT p.Arg709Cys Missense 14/23 - 1
4-110901209-A-T c.2135A>T p.Lys712Met Missense 14/23 - 1
4-110901220-AA-GC c.2146_2147delinsGC p.Lys716Ala Missense 14/23 - 1
4-110901229-GTA-TGT c.2155_2157delinsTGT p.Val719Cys Missense 14/23 - 1
4-110901232-C-T c.2158C>T p.Arg720Cys Missense 14/23 - 1
4-110901259-T-G c.2185T>G p.Ser729Ala Missense 14/23 - 3
4-110901265-CTG-ATC c.2191_2193delinsATC p.Leu731Ile Missense 14/23 - 1
4-110901288-A-C c.2214A>C p.Ala738Ala Synonymous 14/23 - 1
4-110901987-GA-CG c.2227_2228delinsCG p.Asp743Arg Missense 15/23 - 3
4-110901990-C-T c.2230C>T p.Pro744Ser Missense 15/23 - 1
4-110901999-TA-GC c.2239_2240delinsGC p.Tyr747Ala Missense 15/23 - 2
4-110901999-TAT-GAG c.2239_2241delinsGAG p.Tyr747Glu Missense 15/23 - 2
4-110902000-A-T c.2240A>T p.Tyr747Phe Missense 15/23 - 3
4-110902033-A-T c.2273A>T p.Lys758Met Missense 15/23 - 1
4-110902033-A-G c.2273A>G p.Lys758Arg Missense 15/23 - 1
4-110902047-G-GAACG c.2287_2288insAACG p.Ala763Glufs*8 Frameshift 15/23 - 1
4-110902048-C-G c.2288C>G p.Ala763Gly Missense 15/23 - 1
4-110902048-C-T c.2288C>T p.Ala763Val Missense 15/23 - 1
4-110902051-G-A c.2291G>A p.Trp764* Nonsense 15/23 - 1
4-110902078-A-G c.2318A>G p.Lys773Arg Missense 15/23 - 1
4-110902090-G-C c.2330G>C p.Gly777Ala Missense 15/23 - 1
4-110902111-A-T c.2351A>T p.Asp784Val Missense 15/23 - 7
4-110902121-G-A c.2361G>A p.Gln787Gln Synonymous 15/23 - 3
4-110904448-C-G c.2372-130C>G - IntronicSNV - 15/22 1
4-110904448-C-T c.2372-130C>T - IntronicSNV - 15/22 1
4-110904581-G-A c.2375G>A p.Gly792Asp Missense 16/23 - 1
4-110904646-G-T c.2440G>T p.Asp814Tyr Missense 16/23 - 1
4-110904647-A-T c.2441A>T p.Asp814Val Missense 16/23 - 4
4-110904648-T-TT c.2442dup p.Asn815* Nonsense 16/23 - 1
4-110904649-A-G c.2443A>G p.Asn815Asp Missense 16/23 - 1
4-110904655-A-C c.2449A>C p.Thr817Pro Missense 16/23 - 1
4-110904694-T-G c.2488T>G p.Ser830Ala Missense 16/23 - 1
4-110905803-A-G c.2491+1106A>G - IntronicSNV - 16/22 1
4-110908906-A-G c.2498A>G p.Asp833Gly Missense 17/23 - 4
4-110908917-CC-GG c.2509_2510inv p.Pro837Gly Missense 17/23 - 1
4-110908930-G-GA c.2522_2523insA p.Ser841Argfs*30 Frameshift 17/23 - 1
4-110908946-T-A c.2538T>A p.Cys846* Nonsense 17/23 - 1
4-110908962-G-T c.2554G>T p.Asp852Tyr Missense 17/23 - 1
4-110908968-A-G c.2560A>G p.Thr854Ala Missense 17/23 - 3
4-110908971-TG-GC c.2563_2564delinsGC p.Cys855Ala Missense 17/23 - 2
4-110908980-TT-AG c.2572_2573delinsAG p.Leu858Arg Missense 17/23 - 110
4-110908993-C-T c.2585C>T p.Ala862Val Missense 17/23 - 1
4-110908995-GGG-AGC c.2587_2589delinsAGC p.Gly863Ser Missense 17/23 - 1
4-110908998-G-GG c.2590dup p.Asp864Glyfs*7 Frameshift 17/23 - 1
4-110908999-A-G c.2591A>G p.Asp864Gly Missense 17/23 - 1
4-110909005-A-G c.2597A>G p.Lys866Arg Missense 17/23 - 3
4-110909009-A-AA c.2601dup p.Cys868Metfs*3 Frameshift 17/23 - 1
4-110909014-TCT-T c.2606_2607del p.Ser869* SpliceDonorDeletion 17/23 - 1
4-110909742-AT-TG c.2611_2612delinsTG p.Ile871* Missense 18/23 - 1
4-110909747-T-A c.2616T>A p.Asp872Glu Missense 18/23 - 1
4-110909747-T-G c.2616T>G p.Asp872Glu Missense 18/23 - 1
4-110909749-A-T c.2618A>T p.Glu873Val Missense 18/23 - 1
4-110909759-G-A c.2628G>A p.Met876Ile Missense 18/23 - 1
4-110909763-G-A c.2632G>A p.Val878Ile Missense 18/23 - 1
4-110909772-GTG-G c.2641_2642del p.Cys881Profs*31 Frameshift 18/23 - 1
4-110909778-C-G c.2647C>G p.Pro883Ala Missense 18/23 - 1
4-110909793-GTGCAT-G c.2662_2666del p.Cys888Glnfs*23 Frameshift 18/23 - 1
4-110909793-TG-GC c.2662_2663delinsGC p.Cys888Ala Missense 18/23 - 1
4-110909793-GTGCATCAACACCGAAG-G c.2662_2677del p.Cys888Valfs*36 Frameshift 18/23 - 1
4-110909802-AC-TG c.2671_2672delinsTG p.Thr891Cys Missense 18/23 - 1
4-110909811-GG-AC c.2680_2681delinsAC p.Gly894Thr Missense 18/23 - 1
4-110909812-G-C c.2681G>C p.Gly894Ala Missense 18/23 - 1
4-110909812-G-GG c.2681dup p.Tyr895Leufs*18 Frameshift 18/23 - 1
4-110909815-A-T c.2684A>T p.Tyr895Phe Missense 18/23 - 1
4-110909822-C-A c.2691C>A p.Cys897* Nonsense 18/23 - 1
4-110909839-A-G c.2708A>G p.Tyr903Cys Missense 18/23 - 1
4-110909840-C-T c.2709C>T p.Tyr903Tyr Synonymous 18/23 - 1
4-110909862-C-CC c.2731dup p.Leu911Profs*2 Frameshift 18/23 - 1
4-110910941-A-G c.2734+1076A>G - IntronicSNV - 18/22 1
4-110911015-G-A c.2734+1150G>A - IntronicSNV - 18/22 2
4-110911025-A-G c.2734+1160A>G - IntronicSNV - 18/22 1
4-110911189-T-A c.2734+1324T>A - IntronicSNV - 18/22 3
4-110911567-A-G c.2734+1702A>G - IntronicSNV - 18/22 1
4-110911567-A-T c.2734+1702A>T - IntronicSNV - 18/22 1
4-110911907-T-C c.2734+2042T>C - IntronicSNV - 18/22 4
4-110914427-A-G c.2735-1462A>G - IntronicSNV - 18/22 2
4-110914427-A-T c.2735-1462A>T - IntronicSNV - 18/22 2
4-110915915-G-C c.2761G>C p.Glu921Gln Missense 19/23 - 1
4-110915918-G-T c.2764G>T p.Asp922Tyr Missense 19/23 - 1
4-110915939-AG-GA c.2785_2786delinsGA p.Arg929Glu Missense 19/23 - 1
4-110915945-A-G c.2791A>G p.Ser931Gly Missense 19/23 - 1
4-110915952-C-CC c.2798dup p.Glu934* Nonsense 19/23 - 1
4-110915959-T-A c.2805T>A p.Cys935* Nonsense 19/23 - 1
4-110915975-TGGGTACTGCCT-T c.2821_2831del p.Gly941Profs*2 Frameshift 19/23 - 1
4-110915976-GGGTACTG-G c.2822_2828del p.Gly941Alafs*34 Frameshift 19/23 - 1
4-110915984-C-CC c.2830dup p.Leu944Profs*3 Frameshift 19/23 - 1
4-110915996-GT-AG c.2842_2843delinsAG p.Val948Arg Missense 19/23 - 3
4-110915998-TG-T c.2844del p.Cys949Alafs*28 Frameshift 19/23 - 1
4-110916004-TG-T c.2850del p.Met950Ilefs*27 Frameshift 19/23 - 1
4-110916006-A-T c.2852A>T p.Tyr951Phe Missense 19/23 - 3
4-110916636-G-A c.2882+600G>A - IntronicSNV - 19/22 1
4-110916636-G-C c.2882+600G>C - IntronicSNV - 19/22 1
4-110920836-T-A c.2884T>A p.Cys962Ser Missense 20/23 - 1
4-110920836-TG-GC c.2884_2885delinsGC p.Cys962Ala Missense 20/23 - 1
4-110920837-G-C c.2885G>C p.Cys962Ser Missense 20/23 - 1
4-110920850-C-CC c.2898dup p.Ile967Hisfs*65 Frameshift 20/23 - 1
4-110920870-TA-T c.2918del p.Tyr973Serfs*4 Frameshift 20/23 - 1
4-110920875-G-GG c.2923dup p.Asp975Glyfs*57 Frameshift 20/23 - 1
4-110920879-T-TT c.2927dup p.Lys977Glufs*55 Frameshift 20/23 - 1
4-110920887-T-TT c.2935dup p.Trp979Leufs*53 Frameshift 20/23 - 1
4-110920890-GA-AG c.2938_2939delinsAG p.Glu980Arg Missense 20/23 - 1
4-110920913-GG-G c.2961del p.Gln988Serfs*21 Frameshift 20/23 - 1
4-110920914-C-T c.2962C>T p.Gln988* Nonsense 20/23 - 1
4-110920956-GCTTG-G c.3004_3007del p.Leu1002Serfs*6 Frameshift 20/23 - 1
4-110920957-CTTGT-C c.3005_3008del p.Leu1002Profs*6 Frameshift 20/23 - 1
4-110920960-T-TAGCCTTCCCCTTC c.3008_3009insAGCCTTCCCCTTC p.Met1004Alafs*32 Frameshift 20/23 - 1
4-110920990-C-G c.3038C>G p.Ala1013Gly Missense 20/23 - 1
4-110920996-A-T c.3044A>T p.Tyr1015Phe Missense 20/23 - 1
4-110922496-T-C c.3050+1494T>C - IntronicSNV - 20/22 1
4-110924772-C-T c.3051-889C>T - IntronicSNV - 20/22 1
4-110925696-C-T c.3086C>T p.Pro1029Leu Missense 21/23 - 1
4-110925701-G-A c.3091G>A p.Glu1031Lys Missense 21/23 - 1
4-110925709-CG-C c.3099del p.Ser1034Alafs*4 Frameshift 21/23 - 1
4-110925713-A-AA c.3103dup p.Arg1035Lysfs*10 Frameshift 21/23 - 1
4-110925731-AG-GC c.3121_3122delinsGC p.Arg1041Ala Missense 21/23 - 1
4-110925771-CAACC-C c.3161_3164del p.Gln1054Leufs*6 Frameshift 21/23 - 1
4-110925774-CCTTG-C c.3164_3167del p.Pro1055Argfs*5 SpliceDonorDeletion 21/23 - 1
4-110925774-CC-C c.3164del p.Pro1055Leufs*6 Frameshift 21/23 - 1
4-110925776-TG-GC c.3166_3167delinsGC p.Trp1056Ala Missense 21/23 - 1
4-110926730-G-A c.3168+952G>A - IntronicSNV - 21/22 1
4-110927563-G-C c.3169-1745G>C - IntronicSNV - 21/22 2
4-110927865-A-T c.3169-1443A>T - IntronicSNV - 21/22 2
4-110929336-T-TT c.3197dup p.Lys1067Glnfs*10 Frameshift 22/23 - 1
4-110929337-C-CC c.3198dup p.Lys1067Glnfs*10 Frameshift 22/23 - 1
4-110929342-AA-A c.3203del p.Asn1068Metfs*52 Frameshift 22/23 - 1
4-110929370-T-TT c.3231dup p.Gly1078Trpfs*35 Frameshift 22/23 - 1
4-110929382-A-AA c.3243dup p.Asp1082Argfs*31 Frameshift 22/23 - 1
4-110929653-G-A c.3247+267G>A - IntronicSNV - 22/22 1
4-110932381-AG-CC c.3271_3272delinsCC p.Arg1091Pro Missense 23/23 - 1
4-110932381-AG-CA c.3271_3272delinsCA p.Arg1091Gln Missense 23/23 - 1
4-110932422-C-G c.3312C>G p.Gly1104Gly Synonymous 23/23 - 1
4-110932430-T-G c.3320T>G p.Ile1107Ser Missense 23/23 - 1
4-110932448-A-G c.3338A>G p.Lys1113Arg Missense 23/23 - 1
4-110932520-G-C c.3410G>C p.Gly1137Ala Missense 23/23 - 1
4-110932531-C-T c.3421C>T p.Pro1141Ser Missense 23/23 - 1
4-110932531-C-G c.3421C>G p.Pro1141Ala Missense 23/23 - 1
4-110932573-G-A c.3463G>A p.Ala1155Thr Missense 23/23 - 1
4-110932597-G-A c.3487G>A p.Glu1163Lys Missense 23/23 - 1
4-110933004-T-C c.*393T>C - 3-UTRSNV 23/23 - 4
4-110933855-T-C c.*1244T>C - 3-UTRSNV 23/23 - 1