CFTR cystic fibrosis transmembrane conductance regulator

Canonical transcript: NM_000492

2279 unique variant annotations were identified in 1533 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-117120104-T-A c.-45T>A - 5-UTRSNV 1/27 - 1
7-117120141-G-C c.-8G>C - 5-UTRSNV 1/27 - 5
7-117120145-G-C c.-4G>C - 5-UTRSNV 1/27 - 1
7-117120149-A-T c.1A>T p.Met1? Missense 1/27 - 1
7-117120149-A-ACCTAC c.1_2insCCTAC p.Met1? CdsStartInsertion 1/27 - 1
7-117120149-A-AC c.1_2insC p.Met1? CdsStartInsertion 1/27 - 1
7-117120149-CAT-C c.1_2del p.Met1? CdsStartDeletion 1/27 - 1
7-117120149-A-G c.1A>G p.Met1? Missense 1/27 - 1
7-117120151-G-A c.3G>A p.Met1? Missense 1/27 - 3
7-117120159-C-A c.11C>A p.Ser4* Nonsense 1/27 - 2
7-117120159-C-T c.11C>T p.Ser4Leu Missense 1/27 - 1
7-117120162-C-T c.14C>T p.Pro5Leu Missense 1/27 - 4
7-117120164-C-G c.16C>G p.Leu6Val Missense 1/27 - 1
7-117120166-G-C c.18G>C p.Leu6Leu Synonymous 1/27 - 1
7-117120167-GGAA-G c.19_21del p.Glu7del InFrameDeletion 1/27 - 1
7-117120167-G-T c.19G>T p.Glu7* Nonsense 1/27 - 3
7-117120169-AAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGGTGAGAAGGTGGCCAACCGAGCTTCG-A c.21_53+26del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/27 1/26 1
7-117120173-G-GG c.25dup p.Ala9Glyfs*36 Frameshift 1/27 - 1
7-117120174-C-T c.26C>T p.Ala9Val Missense 1/27 - 1
7-117120176-AGC-GAG c.28_30delinsGAG p.Ser10Glu Missense 1/27 - 1
7-117120176-AG-CA c.28_29delinsCA p.Ser10His Missense 1/27 - 1
7-117120176-AG-GA c.28_29delinsGA p.Ser10Asp Missense 1/27 - 2
7-117120176-AG-GC c.28_29delinsGC p.Ser10Ala Missense 1/27 - 20
7-117120176-A-G c.28A>G p.Ser10Gly Missense 1/27 - 1
7-117120176-A-T c.28A>T p.Ser10Cys Missense 1/27 - 5
7-117120176-AG-TT c.28_29delinsTT p.Ser10Phe Missense 1/27 - 1
7-117120179-GT-TG c.31_32delinsTG p.Val11Cys Missense 1/27 - 1
7-117120179-G-A c.31G>A p.Val11Ile Missense 1/27 - 4
7-117120179-G-C c.31G>C p.Val11Leu Missense 1/27 - 3
7-117120182-G-C c.34G>C p.Val12Leu Missense 1/27 - 1
7-117120182-G-T c.34G>T p.Val12Phe Missense 1/27 - 1
7-117120185-T-G c.37T>G p.Ser13Ala Missense 1/27 - 6
7-117120186-C-G c.38C>G p.Ser13Cys Missense 1/27 - 3
7-117120186-C-T c.38C>T p.Ser13Phe Missense 1/27 - 9
7-117120188-A-T c.40A>T p.Lys14* Nonsense 1/27 - 1
7-117120189-A-G c.41A>G p.Lys14Arg Missense 1/27 - 1
7-117120191-AC-A c.43del p.Leu15Phefs*10 Frameshift 1/27 - 3
7-117120192-T-C c.44T>C p.Leu15Pro Missense 1/27 - 2
7-117120194-TTT-GAG c.46_48delinsGAG p.Phe16Glu Missense 1/27 - 1
7-117120195-T-G c.47T>G p.Phe16Cys Missense 1/27 - 1
7-117120196-T-TGC c.48_49insGC p.Phe17Alafs*9 Frameshift 1/27 - 1
7-117120197-TTC-GAG c.49_51delinsGAG p.Phe17Glu Missense 1/27 - 1
7-117120199-C-T c.51C>T p.Phe17Phe Synonymous 1/27 - 1
7-117120200-A-G c.52A>G p.Ser18Gly Missense 1/27 - 1
7-117120200-A-T c.52A>T p.Ser18Cys Missense 1/27 - 1
7-117120200-AG-TA c.52_53delinsTA p.Ser18Tyr Missense 1/27 - 1
7-117120200-AG-GC c.52_53delinsGC p.Ser18Ala Missense 1/27 - 2
7-117120202-G-T c.53+1G>T - IntronicSNV - 1/26 2
7-117120203-T-G c.53+2T>G - IntronicSNV - 1/26 1
7-117120205-A-T c.53+4A>T - IntronicSNV - 1/26 1
7-117126401-G-A c.53+6200G>A - IntronicSNV - 1/26 1
7-117129404-T-C c.53+9203T>C - IntronicSNV - 1/26 1
7-117129491-A-G c.53+9290A>G - IntronicSNV - 1/26 1
7-117130142-A-C c.53+9941A>C - IntronicSNV - 1/26 1
7-117130643-G-C c.53+10442G>C - IntronicSNV - 1/26 1
7-117131336-T-A c.53+11135T>A - IntronicSNV - 1/26 1
7-117134517-C-G c.54-9790C>G - IntronicSNV - 1/26 2
7-117135025-G-C c.54-9282G>C - IntronicSNV - 1/26 2
7-117137616-A-G c.54-6691A>G - IntronicSNV - 1/26 1
7-117138367-TAGCGAGCATATACTCCCTAAAGTTGATTAAGCTGACCAAGTGATTACTGCTTATAAATT-T c.54-5940_54-5882del - Unclassified - 1/26 10
7-117138496-CTTGACCCCAATACTGCGATTTTAAATTGAATTCTTGAAGCCTACAAGTTTTACACAGGA-C c.54-5811_54-5753del - Unclassified - 1/26 2
7-117143146-GTTTGCATTTGGCATAGCCCTTTCTCTTTTTGTTCTGAATGGCTTTGCTAGAATATCTTT-G c.54-1160_54-1102del - Unclassified - 1/26 1
7-117143602-C-G c.54-705C>G - IntronicSNV - 1/26 2
7-117144294-C-G c.54-13C>G - IntronicSNV - 1/26 1
7-117144309-G-A c.56G>A p.Trp19* Nonsense 2/27 - 2
7-117144310-G-T c.57G>T p.Trp19Cys Missense 2/27 - 4
7-117144310-G-C c.57G>C p.Trp19Cys Missense 2/27 - 4
7-117144311-AC-TG c.58_59delinsTG p.Thr20Cys Missense 2/27 - 1
7-117144314-AGA-TGT c.61_63delinsTGT p.Arg21Cys Missense 2/27 - 1
7-117144323-TTG-CAT c.70_72delinsCAT p.Leu24His Missense 2/27 - 1
7-117144327-G-C c.74G>C p.Arg25Thr Missense 2/27 - 1
7-117144332-G-T c.79G>T p.Gly27* Nonsense 2/27 - 2
7-117144332-G-C c.79G>C p.Gly27Arg Missense 2/27 - 2
7-117144332-G-A c.79G>A p.Gly27Arg Missense 2/27 - 2
7-117144333-G-T c.80G>T p.Gly27Val Missense 2/27 - 2
7-117144338-A-T c.85A>T p.Arg29* Nonsense 2/27 - 1
7-117144339-G-A c.86G>A p.Arg29Lys Missense 2/27 - 13
7-117144343-AG-A c.90del p.Gln30Hisfs*61 Frameshift 2/27 - 1
7-117144343-G-GG c.90dup p.Arg31Alafs*14 Frameshift 2/27 - 1
7-117144343-G-A c.90G>A p.Gln30Gln Synonymous 2/27 - 1
7-117144344-C-A c.91C>A p.Arg31Ser Missense 2/27 - 1
7-117144344-C-T c.91C>T p.Arg31Cys Missense 2/27 - 20
7-117144345-G-T c.92G>T p.Arg31Leu Missense 2/27 - 4
7-117144345-G-A c.92G>A p.Arg31His Missense 2/27 - 1
7-117144347-C-A c.94C>A p.Leu32Met Missense 2/27 - 2
7-117144348-T-C c.95T>C p.Leu32Pro Missense 2/27 - 4
7-117144350-G-A c.97G>A p.Glu33Lys Missense 2/27 - 2
7-117144351-A-C c.98A>C p.Glu33Ala Missense 2/27 - 3
7-117144353-ATTGTCAGACATATACCAA-A c.100_117del p.Leu34_Gln39del InFrameDeletion 2/27 - 1
7-117144354-T-C c.101T>C p.Leu34Ser Missense 2/27 - 1
7-117144354-T-G c.101T>G p.Leu34Trp Missense 2/27 - 1
7-117144368-C-T c.115C>T p.Gln39* Nonsense 2/27 - 13
7-117144375-CC-C c.122del p.Pro41Leufs*50 Frameshift 2/27 - 10
7-117144378-C-T c.125C>T p.Ser42Phe Missense 2/27 - 5
7-117144384-A-T c.131A>T p.Asp44Val Missense 2/27 - 1
7-117144386-TC-GA c.133_134inv p.Ser45Asp Missense 2/27 - 1
7-117144386-T-G c.133T>G p.Ser45Ala Missense 2/27 - 2
7-117144390-C-A c.137C>A p.Ala46Asp Missense 2/27 - 1
7-117144393-A-C c.140A>C p.Asp47Ala Missense 2/27 - 1
7-117144394-C-A c.141C>A p.Asp47Glu Missense 2/27 - 1
7-117144394-C-G c.141C>G p.Asp47Glu Missense 2/27 - 1
7-117144400-A-G c.147A>G p.Leu49Leu Synonymous 2/27 - 1
7-117144401-T-C c.148T>C p.Ser50Pro Missense 2/27 - 1
7-117144413-G-T c.160G>T p.Glu54* Nonsense 2/27 - 1
7-117144414-A-C c.161A>C p.Glu54Ala Missense 2/27 - 1
7-117144417-G-A c.164G>A p.Arg55Lys Missense 2/27 - 1
7-117144418-G-A c.164+1G>A - IntronicSNV - 2/26 1
7-117144429-T-C c.164+12T>C - IntronicSNV - 2/26 4
7-117144445-A-G c.164+28A>G - IntronicSNV - 2/26 2
7-117146020-TG-T c.164+1603del - IntronicDeletion - 2/26 1
7-117146604-AA-A c.164+2187del - IntronicDeletion - 2/26 2
7-117147500-C-T c.165-1588C>T - IntronicSNV - 2/26 1
7-117147500-C-A c.165-1588C>A - IntronicSNV - 2/26 1
7-117147500-C-G c.165-1588C>G - IntronicSNV - 2/26 1
7-117149021-A-C c.165-67A>C - IntronicSNV - 2/26 1
7-117149089-G-A c.166G>A p.Glu56Lys Missense 3/27 - 13
7-117149089-GA-CT c.166_167delinsCT p.Glu56Leu Missense 3/27 - 1
7-117149089-G-T c.166G>T p.Glu56* Nonsense 3/27 - 1
7-117149090-A-G c.167A>G p.Glu56Gly Missense 3/27 - 1
7-117149092-TG-GC c.169_170delinsGC p.Trp57Ala Missense 3/27 - 1
7-117149092-T-A c.169T>A p.Trp57Arg Missense 3/27 - 1
7-117149092-T-G c.169T>G p.Trp57Gly Missense 3/27 - 1
7-117149092-T-C c.169T>C p.Trp57Arg Missense 3/27 - 1
7-117149093-G-A c.170G>A p.Trp57* Nonsense 3/27 - 4
7-117149094-G-A c.171G>A p.Trp57* Nonsense 3/27 - 4
7-117149095-G-A c.172G>A p.Asp58Asn Missense 3/27 - 1
7-117149096-A-C c.173A>C p.Asp58Ala Missense 3/27 - 1
7-117149097-ATAGA-A c.174_177del p.Asp58Glufs*32 Frameshift 3/27 - 1
7-117149101-G-T c.178G>T p.Glu60* Nonsense 3/27 - 37
7-117149101-GAG-TAT c.178_180delinsTAT p.Glu60Tyr Missense 3/27 - 1
7-117149101-G-A c.178G>A p.Glu60Lys Missense 3/27 - 2
7-117149102-A-C c.179A>C p.Glu60Ala Missense 3/27 - 1
7-117149108-CT-AG c.185_186inv p.Ala62Glu Missense 3/27 - 1
7-117149120-A-G c.197A>G p.Asn66Ser Missense 3/27 - 1
7-117149122-C-A c.199C>A p.Pro67Thr Missense 3/27 - 1
7-117149122-C-T c.199C>T p.Pro67Ser Missense 3/27 - 2
7-117149123-C-T c.200C>T p.Pro67Leu Missense 3/27 - 50
7-117149125-A-G c.202A>G p.Lys68Glu Missense 3/27 - 5
7-117149125-A-T c.202A>T p.Lys68* Nonsense 3/27 - 1
7-117149126-A-G c.203A>G p.Lys68Arg Missense 3/27 - 1
7-117149127-A-T c.204A>T p.Lys68Asn Missense 3/27 - 2
7-117149129-T-A c.206T>A p.Leu69His Missense 3/27 - 2
7-117149137-G-A c.214G>A p.Ala72Thr Missense 3/27 - 2
7-117149138-C-A c.215C>A p.Ala72Asp Missense 3/27 - 2
7-117149143-C-T c.220C>T p.Arg74Trp Missense 3/27 - 39
7-117149143-CG-GC c.220_221delinsGC p.Arg74Ala Missense 3/27 - 1
7-117149143-CG-GA c.220_221delinsGA p.Arg74Glu Missense 3/27 - 1
7-117149144-G-A c.221G>A p.Arg74Gln Missense 3/27 - 7
7-117149146-CG-GC c.223_224delinsGC p.Arg75Ala Missense 3/27 - 1
7-117149146-C-T c.223C>T p.Arg75* Nonsense 3/27 - 20
7-117149147-G-T c.224G>T p.Arg75Leu Missense 3/27 - 1
7-117149147-G-A c.224G>A p.Arg75Gln Missense 3/27 - 52
7-117149149-T-G c.226T>G p.Cys76Gly Missense 3/27 - 1
7-117149150-G-C c.227G>C p.Cys76Ser Missense 3/27 - 3
7-117149149-T-C c.226T>C p.Cys76Arg Missense 3/27 - 1
7-117149149-T-A c.226T>A p.Cys76Ser Missense 3/27 - 3
7-117149151-T-G c.228T>G p.Cys76Trp Missense 3/27 - 1
7-117149156-T-TT c.233dup p.Trp79Leufs*32 Frameshift 3/27 - 2
7-117149158-TG-GC c.235_236delinsGC p.Trp79Ala Missense 3/27 - 1
7-117149161-AG-GA c.238_239delinsGA p.Arg80Glu Missense 3/27 - 1
7-117149167-A-G c.244A>G p.Met82Val Missense 3/27 - 2
7-117149173-T-C c.250T>C p.Tyr84His Missense 3/27 - 1
7-117149175-T-A c.252T>A p.Tyr84* Nonsense 3/27 - 2
7-117149176-G-C c.253G>C p.Gly85Arg Missense 3/27 - 5
7-117149176-G-A c.253G>A p.Gly85Arg Missense 3/27 - 5
7-117149177-G-C c.254G>C p.Gly85Ala Missense 3/27 - 1
7-117149177-G-A c.254G>A p.Gly85Glu Missense 3/27 - 141
7-117149177-G-T c.254G>T p.Gly85Val Missense 3/27 - 4
7-117149182-T-A c.259T>A p.Phe87Ile Missense 3/27 - 1
7-117149184-T-A c.261T>A p.Phe87Leu Missense 3/27 - 2
7-117149184-T-G c.261T>G p.Phe87Leu Missense 3/27 - 2
7-117149182-T-C c.259T>C p.Phe87Leu Missense 3/27 - 2
7-117149183-T-G c.260T>G p.Phe87Cys Missense 3/27 - 1
7-117149185-TTT-T c.262_263del p.Leu88Ilefs*22 Frameshift 3/27 - 12
7-117149185-TT-CC c.262_263delinsCC p.Leu88Pro Missense 3/27 - 1
7-117149186-T-C c.263T>C p.Leu88Ser Missense 3/27 - 2
7-117149186-T-G c.263T>G p.Leu88* Nonsense 3/27 - 8
7-117149187-TATATT-T c.264_268del p.Leu88Phefs*21 Frameshift 3/27 - 1
7-117149188-T-C c.265T>C p.Tyr89His Missense 3/27 - 1
7-117149190-T-C c.267T>C p.Tyr89Tyr Synonymous 3/27 - 1
7-117149192-T-C c.269T>C p.Leu90Ser Missense 3/27 - 1
7-117149194-G-A c.271G>A p.Gly91Arg Missense 3/27 - 17
7-117149195-G-C c.272G>C p.Gly91Ala Missense 3/27 - 1
7-117149196-G-C c.273G>C p.Gly91Gly Synonymous 3/27 - 3
7-117149197-G-A c.273+1G>A - IntronicSNV - 3/26 3
7-117150075-C-A c.273+879C>A - IntronicSNV - 3/26 1
7-117151828-A-C c.273+2632A>C - IntronicSNV - 3/26 1
7-117154159-G-A c.273+4963G>A - IntronicSNV - 3/26 1
7-117165514-C-T c.274-5439C>T - IntronicSNV - 3/26 1
7-117170893-C-T c.274-60C>T - IntronicSNV - 3/26 1
7-117170947-T-C c.274-6T>C - IntronicSNV - 3/26 3
7-117170952-G-A c.274-1G>A - IntronicSNV - 3/26 4
7-117170953-GAA-TGT c.274_276delinsTGT p.Glu92Cys Missense 4/27 - 2
7-117170953-G-A c.274G>A p.Glu92Lys Missense 4/27 - 27
7-117170953-G-T c.274G>T p.Glu92* Nonsense 4/27 - 9
7-117170954-A-C c.275A>C p.Glu92Ala Missense 4/27 - 2
7-117170955-A-G c.276A>G p.Glu92Glu Synonymous 4/27 - 1
7-117170958-C-T c.279C>T p.Val93Val Synonymous 4/27 - 1
7-117170962-AAA-GAC c.283_285delinsGAC p.Lys95Asp Missense 4/27 - 2
7-117170962-A-C c.283A>C p.Lys95Gln Missense 4/27 - 3
7-117170962-AA-GC c.283_284delinsGC p.Lys95Ala Missense 4/27 - 1
7-117170962-A-G c.283A>G p.Lys95Glu Missense 4/27 - 3
7-117170962-AAA-TGT c.283_285delinsTGT p.Lys95Cys Missense 4/27 - 9
7-117170963-AA-GC c.284_285delinsGC p.Lys95Ser Missense 4/27 - 5
7-117170965-G-T c.286G>T p.Ala96Ser Missense 4/27 - 1
7-117170965-GCA-TGT c.286_288delinsTGT p.Ala96Cys Missense 4/27 - 1
7-117170966-C-A c.287C>A p.Ala96Glu Missense 4/27 - 1
7-117170971-C-A c.292C>A p.Gln98Lys Missense 4/27 - 3
7-117170971-C-T c.292C>T p.Gln98* Nonsense 4/27 - 4
7-117170971-CAG-TGT c.292_294delinsTGT p.Gln98Cys Missense 4/27 - 6
7-117170972-A-G c.293A>G p.Gln98Arg Missense 4/27 - 19
7-117170972-A-C c.293A>C p.Gln98Pro Missense 4/27 - 1
7-117170974-CC-TG c.295_296delinsTG p.Pro99Cys Missense 4/27 - 3
7-117170975-C-T c.296C>T p.Pro99Leu Missense 4/27 - 3
7-117170980-TT-CC c.301_302delinsCC p.Leu101Pro Missense 4/27 - 1
7-117170981-T-G c.302T>G p.Leu101* Nonsense 4/27 - 1
7-117170983-CTG-TGT c.304_306delinsTGT p.Leu102Cys Missense 4/27 - 5
7-117170984-T-C c.305T>C p.Leu102Pro Missense 4/27 - 1
7-117170986-GGA-TGT c.307_309delinsTGT p.Gly103Cys Missense 4/27 - 1
7-117170989-AGA-TGT c.310_312delinsTGT p.Arg104Cys Missense 4/27 - 4
7-117170989-AG-GA c.310_311delinsGA p.Arg104Glu Missense 4/27 - 1
7-117170989-AG-CA c.310_311delinsCA p.Arg104Gln Missense 4/27 - 1
7-117170992-AA-A c.313del p.Ile105Serfs*2 Frameshift 4/27 - 6
7-117170993-T-A c.314T>A p.Ile105Asn Missense 4/27 - 3
7-117170995-ATA-TGT c.316_318delinsTGT p.Ile106Cys Missense 4/27 - 2
7-117170998-GCT-TAA c.319_321delinsTAA p.Ala107* Nonsense 4/27 - 3
7-117170998-GC-TG c.319_320delinsTG p.Ala107Cys Missense 4/27 - 3
7-117171002-C-G c.323C>G p.Ser108Cys Missense 4/27 - 1
7-117171002-C-T c.323C>T p.Ser108Phe Missense 4/27 - 2
7-117171003-C-CGG c.324_325insGG p.Tyr109Glyfs*16 Frameshift 4/27 - 1
7-117171004-TA-GG c.325_326delinsGG p.Tyr109Gly Missense 4/27 - 1
7-117171004-T-A c.325T>A p.Tyr109Asn Missense 4/27 - 1
7-117171004-T-G c.325T>G p.Tyr109Asp Missense 4/27 - 1
7-117171005-A-G c.326A>G p.Tyr109Cys Missense 4/27 - 8
7-117171007-GA-CG c.328_329delinsCG p.Asp110Arg Missense 4/27 - 4
7-117171007-G-C c.328G>C p.Asp110His Missense 4/27 - 32
7-117171007-GA-TG c.328_329delinsTG p.Asp110Cys Missense 4/27 - 2
7-117171008-A-C c.329A>C p.Asp110Ala Missense 4/27 - 2
7-117171009-C-A c.330C>A p.Asp110Glu Missense 4/27 - 10
7-117171010-C-G c.331C>G p.Pro111Ala Missense 4/27 - 1
7-117171012-G-A c.333G>A p.Pro111Pro Synonymous 4/27 - 1
7-117171013-GA-CG c.334_335delinsCG p.Asp112Arg Missense 4/27 - 1
7-117171013-GA-TG c.334_335delinsTG p.Asp112Cys Missense 4/27 - 1
7-117171014-A-G c.335A>G p.Asp112Gly Missense 4/27 - 1
7-117171019-CAAG-C c.340_342del p.Lys114del InFrameDeletion 4/27 - 2
7-117171019-AAG-TGT c.340_342delinsTGT p.Lys114Cys Missense 4/27 - 1
7-117171019-AAG-GAC c.340_342delinsGAC p.Lys114Asp Missense 4/27 - 1
7-117171020-A-C c.341A>C p.Lys114Thr Missense 4/27 - 1
7-117171022-GA-AG c.343_344delinsAG p.Glu115Arg Missense 4/27 - 1
7-117171022-GAG-TGT c.343_345delinsTGT p.Glu115Cys Missense 4/27 - 1
7-117171024-AGGA-A c.345_347del p.Glu116del InFrameDeletion 4/27 - 1
7-117171025-G-A c.346G>A p.Glu116Lys Missense 4/27 - 3
7-117171025-GAA-TGT c.346_348delinsTGT p.Glu116Cys Missense 4/27 - 2
7-117171025-GA-AG c.346_347delinsAG p.Glu116Arg Missense 4/27 - 3
7-117171027-A-T c.348A>T p.Glu116Asp Missense 4/27 - 1
7-117171027-A-C c.348A>C p.Glu116Asp Missense 4/27 - 1
7-117171028-C-T c.349C>T p.Arg117Cys Missense 4/27 - 32
7-117171028-C-G c.349C>G p.Arg117Gly Missense 4/27 - 2
7-117171028-CG-GC c.349_350delinsGC p.Arg117Ala Missense 4/27 - 3
7-117171028-CGC-AAG c.349_351delinsAAG p.Arg117Lys Missense 4/27 - 1
7-117171028-CGC-GAG c.349_351delinsGAG p.Arg117Glu Missense 4/27 - 2
7-117171029-G-A c.350G>A p.Arg117His Missense 4/27 - 366
7-117171029-G-C c.350G>C p.Arg117Pro Missense 4/27 - 5
7-117171029-G-T c.350G>T p.Arg117Leu Missense 4/27 - 10
7-117171029-GC-AA c.350_351delinsAA p.Arg117Gln Missense 4/27 - 1
7-117171037-G-A c.358G>A p.Ala120Thr Missense 4/27 - 4
7-117171037-G-C c.358G>C p.Ala120Pro Missense 4/27 - 1
7-117171039-G-A c.360G>A p.Ala120Ala Synonymous 4/27 - 2
7-117171040-A-G c.361A>G p.Ile121Val Missense 4/27 - 1
7-117171043-T-C c.364T>C p.Tyr122His Missense 4/27 - 2
7-117171045-T-A c.366T>A p.Tyr122* Nonsense 4/27 - 34
7-117171046-C-G c.367C>G p.Leu123Val Missense 4/27 - 1
7-117171046-C-T c.367C>T p.Leu123Leu Synonymous 4/27 - 1
7-117171048-A-G c.369A>G p.Leu123Leu Synonymous 4/27 - 1
7-117171048-A-C c.369A>C p.Leu123Leu Synonymous 4/27 - 1
7-117171048-A-T c.369A>T p.Leu123Leu Synonymous 4/27 - 1
7-117171053-T-C c.374T>C p.Ile125Thr Missense 4/27 - 5
7-117171055-G-A c.376G>A p.Gly126Ser Missense 4/27 - 1
7-117171056-G-A c.377G>A p.Gly126Asp Missense 4/27 - 6
7-117171062-G-C c.383G>C p.Cys128Ser Missense 4/27 - 1
7-117171061-T-A c.382T>A p.Cys128Ser Missense 4/27 - 1
7-117171064-C-T c.385C>T p.Leu129Phe Missense 4/27 - 1
7-117171066-T-C c.387T>C p.Leu129Leu Synonymous 4/27 - 1
7-117171069-C-A c.390C>A p.Leu130Leu Synonymous 4/27 - 1
7-117171069-C-G c.390C>G p.Leu130Leu Synonymous 4/27 - 1
7-117171069-C-T c.390C>T p.Leu130Leu Synonymous 4/27 - 1
7-117171074-ATT-A c.395_396del p.Ile132Serfs*26 Frameshift 4/27 - 1
7-117171079-AG-CA c.400_401delinsCA p.Arg134Gln Missense 4/27 - 1
7-117171079-AG-GC c.400_401delinsGC p.Arg134Ala Missense 4/27 - 1
7-117171079-A-G c.400A>G p.Arg134Gly Missense 4/27 - 1
7-117171079-A-T c.400A>T p.Arg134Trp Missense 4/27 - 1
7-117171081-G-A c.402G>A p.Arg134Arg Synonymous 4/27 - 1
7-117171079-A-C c.400A>C p.Arg134Arg Synonymous 4/27 - 1
7-117171082-A-G c.403A>G p.Thr135Ala Missense 4/27 - 1
7-117171083-C-T c.404C>T p.Thr135Ile Missense 4/27 - 1
7-117171086-T-C c.407T>C p.Leu136Pro Missense 4/27 - 1
7-117171089-T-A c.410T>A p.Leu137His Missense 4/27 - 1
7-117171089-T-C c.410T>C p.Leu137Pro Missense 4/27 - 2
7-117171091-C-CACT c.412_413insACT p.Leu137_Leu138insHis InFrameInsertion 4/27 - 1
7-117171092-T-C c.413T>C p.Leu138Pro Missense 4/27 - 1
7-117171094-C-CTTC c.415_416insTTC p.Leu138dup InFrameInsertion 4/27 - 2
7-117171095-A-G c.416A>G p.His139Arg Missense 4/27 - 6
7-117171095-A-T c.416A>T p.His139Leu Missense 4/27 - 10
7-117171101-C-A c.422C>A p.Ala141Asp Missense 4/27 - 2
7-117171106-TTT-AAG c.427_429delinsAAG p.Phe143Lys Missense 4/27 - 1
7-117171109-G-T c.430G>T p.Gly144Cys Missense 4/27 - 1
7-117171113-T-A c.434T>A p.Leu145His Missense 4/27 - 1
7-117171117-ATCA-A c.438_440del p.His147del InFrameDeletion 4/27 - 1
7-117171119-A-C c.440A>C p.His147Pro Missense 4/27 - 1
7-117171119-A-G c.440A>G p.His147Arg Missense 4/27 - 1
7-117171121-CA-C c.442del p.Ile148Leufs*5 Frameshift 4/27 - 4
7-117171122-T-A c.443T>A p.Ile148Asn Missense 4/27 - 1
7-117171122-T-C c.443T>C p.Ile148Thr Missense 4/27 - 51
7-117171124-G-A c.445G>A p.Gly149Arg Missense 4/27 - 3
7-117171127-A-G c.448A>G p.Met150Val Missense 4/27 - 1
7-117171133-A-G c.454A>G p.Met152Val Missense 4/27 - 3
7-117171133-A-T c.454A>T p.Met152Leu Missense 4/27 - 1
7-117171133-GATGAGAATAGCTATGTTTAGTTTGATTTATAAGAAG-G c.454_489del p.Met152_Lys163del InFrameDeletion 4/27 - 1
7-117171136-AGA-TGT c.457_459delinsTGT p.Arg153Cys Missense 4/27 - 1
7-117171137-G-T c.458G>T p.Arg153Ile Missense 4/27 - 3
7-117171140-T-TT c.461dup p.Ala155Serfs*4 Frameshift 4/27 - 1
7-117171145-A-G c.466A>G p.Met156Val Missense 4/27 - 1
7-117171146-T-G c.467T>G p.Met156Arg Missense 4/27 - 1
7-117171149-T-G c.470T>G p.Phe157Cys Missense 4/27 - 1
7-117171151-A-C c.472A>C p.Ser158Arg Missense 4/27 - 1
7-117171151-A-G c.472A>G p.Ser158Gly Missense 4/27 - 1
7-117171151-A-AA c.472dup p.Ser158Lysfs*5 Frameshift 4/27 - 2
7-117171151-AGT-GAG c.472_474delinsGAG p.Ser158Glu Missense 4/27 - 1
7-117171152-G-C c.473G>C p.Ser158Thr Missense 4/27 - 4
7-117171152-G-A c.473G>A p.Ser158Asn Missense 4/27 - 2
7-117171153-T-C c.474T>C p.Ser158Ser Synonymous 4/27 - 1
7-117171155-T-C c.476T>C p.Leu159Ser Missense 4/27 - 1
7-117171160-T-G c.481T>G p.Tyr161Asp Missense 4/27 - 1
7-117171161-A-G c.482A>G p.Tyr161Cys Missense 4/27 - 2
7-117171166-A-G c.487A>G p.Lys163Glu Missense 4/27 - 1
7-117171169-G-T c.489+1G>T - IntronicSNV - 4/26 33
7-117171171-A-G c.489+3A>G - IntronicSNV - 4/26 1
7-117171259-A-G c.489+91A>G - IntronicSNV - 4/26 1
7-117171259-A-C c.489+91A>C - IntronicSNV - 4/26 1
7-117174328-A-G c.490-2A>G - IntronicSNV - 4/26 1
7-117174329-G-C c.490-1G>C - IntronicSNV - 4/26 1
7-117174334-T-A c.494T>A p.Leu165* Nonsense 5/27 - 1
7-117174334-T-C c.494T>C p.Leu165Ser Missense 5/27 - 3
7-117174335-A-T c.495A>T p.Leu165Phe Missense 5/27 - 1
7-117174335-A-C c.495A>C p.Leu165Phe Missense 5/27 - 1
7-117174336-A-G c.496A>G p.Lys166Glu Missense 5/27 - 1
7-117174340-T-G c.500T>G p.Leu167Arg Missense 5/27 - 1
7-117174342-TC-AG c.502_503delinsAG p.Ser168Arg Missense 5/27 - 2
7-117174343-C-T c.503C>T p.Ser168Leu Missense 5/27 - 1
7-117174348-C-T c.508C>T p.Arg170Cys Missense 5/27 - 3
7-117174348-C-G c.508C>G p.Arg170Gly Missense 5/27 - 5
7-117174349-G-T c.509G>T p.Arg170Leu Missense 5/27 - 1
7-117174349-G-A c.509G>A p.Arg170His Missense 5/27 - 16
7-117174351-GT-TG c.511_512delinsTG p.Val171Cys Missense 5/27 - 1
7-117174354-CTA-TGT c.514_516delinsTGT p.Leu172Cys Missense 5/27 - 1
7-117174355-T-C c.515T>C p.Leu172Pro Missense 5/27 - 1
7-117174357-G-C c.517G>C p.Asp173His Missense 5/27 - 1
7-117174363-A-G c.523A>G p.Ile175Val Missense 5/27 - 2
7-117174371-TT-T c.531del p.Ile177Metfs*12 Frameshift 5/27 - 3
7-117174372-G-A c.532G>A p.Gly178Arg Missense 5/27 - 76
7-117174372-G-C c.532G>C p.Gly178Arg Missense 5/27 - 70
7-117174372-G-T c.532G>T p.Gly178* Nonsense 5/27 - 1
7-117174375-C-A c.535C>A p.Gln179Lys Missense 5/27 - 5
7-117174375-CA-GC c.535_536delinsGC p.Gln179Ala Missense 5/27 - 1
7-117174384-AG-GC c.544_545delinsGC p.Ser182Ala Missense 5/27 - 1
7-117174384-A-G c.544A>G p.Ser182Gly Missense 5/27 - 1
7-117174388-T-C c.548T>C p.Leu183Pro Missense 5/27 - 2
7-117174389-C-T c.549C>T p.Leu183Leu Synonymous 5/27 - 1
7-117174396-AA-TG c.556_557delinsTG p.Asn186Cys Missense 5/27 - 1
7-117174398-C-G c.558C>G p.Asn186Lys Missense 5/27 - 5
7-117174403-T-C c.563T>C p.Leu188Pro Missense 5/27 - 1
7-117174407-C-A c.567C>A p.Asn189Lys Missense 5/27 - 3
7-117174408-A-C c.568A>C p.Lys190Gln Missense 5/27 - 1
7-117174408-A-G c.568A>G p.Lys190Glu Missense 5/27 - 1
7-117174408-AAA-TGT c.568_570delinsTGT p.Lys190Cys Missense 5/27 - 7
7-117174408-AA-GC c.568_569delinsGC p.Lys190Ala Missense 5/27 - 1
7-117174411-TT-GC c.571_572delinsGC p.Phe191Ala Missense 5/27 - 1
7-117174414-GA-AG c.574_575delinsAG p.Asp192Ser Missense 5/27 - 1
7-117174415-A-G c.575A>G p.Asp192Gly Missense 5/27 - 4
7-117174417-G-A c.577G>A p.Glu193Lys Missense 5/27 - 19
7-117174420-G-T c.579+1G>T - IntronicSNV - 5/26 14
7-117174420-G-A c.579+1G>A - IntronicSNV - 5/26 1
7-117174422-A-G c.579+3A>G - IntronicSNV - 5/26 8
7-117174424-G-A c.579+5G>A - IntronicSNV - 5/26 3
7-117175301-G-A c.580-1G>A - IntronicSNV - 5/26 1
7-117175301-G-T c.580-1G>T - IntronicSNV - 5/26 5
7-117175302-G-T c.580G>T p.Gly194* Nonsense 6/27 - 1
7-117175310-A-C c.588A>C p.Ala196Ala Synonymous 6/27 - 1
7-117175313-G-A c.591G>A p.Leu197Leu Synonymous 6/27 - 1
7-117175314-G-C c.592G>C p.Ala198Pro Missense 6/27 - 2
7-117175317-C-T c.595C>T p.His199Tyr Missense 6/27 - 16
7-117175318-A-G c.596A>G p.His199Arg Missense 6/27 - 5
7-117175319-T-A c.597T>A p.His199Gln Missense 6/27 - 1
7-117175319-T-G c.597T>G p.His199Gln Missense 6/27 - 1
7-117175323-G-A c.601G>A p.Val201Met Missense 6/27 - 16
7-117175327-G-C c.605G>C p.Trp202Ser Missense 6/27 - 1
7-117175329-A-T c.607A>T p.Ile203Phe Missense 6/27 - 1
7-117175331-C-T c.609C>T p.Ile203Ile Synonymous 6/27 - 1
7-117175332-GC-CT c.610_611delinsCT p.Ala204Leu Missense 6/27 - 1
7-117175334-T-C c.612T>C p.Ala204Ala Synonymous 6/27 - 1
7-117175335-C-T c.613C>T p.Pro205Ser Missense 6/27 - 28
7-117175335-C-G c.613C>G p.Pro205Ala Missense 6/27 - 1
7-117175335-C-A c.613C>A p.Pro205Thr Missense 6/27 - 1
7-117175338-TT-CC c.616_617delinsCC p.Leu206Pro Missense 6/27 - 1
7-117175339-T-G c.617T>G p.Leu206Trp Missense 6/27 - 44
7-117175341-C-T c.619C>T p.Gln207* Nonsense 6/27 - 1
7-117175348-C-T c.626C>T p.Ala209Val Missense 6/27 - 1
7-117175351-T-C c.629T>C p.Leu210Pro Missense 6/27 - 1
7-117175370-G-A c.648G>A p.Trp216* Nonsense 6/27 - 3
7-117175371-GAG-TTT c.649_651delinsTTT p.Glu217Phe Missense 6/27 - 1
7-117175371-GA-TC c.649_650inv p.Glu217Ser Missense 6/27 - 1
7-117175371-GAG-TGT c.649_651delinsTGT p.Glu217Cys Missense 6/27 - 1
7-117175372-A-G c.650A>G p.Glu217Gly Missense 6/27 - 15
7-117175372-GAGTTGTTACA-G c.650_659del p.Glu217Glyfs*11 Frameshift 6/27 - 1
7-117175372-A-T c.650A>T p.Glu217Val Missense 6/27 - 1
7-117175375-T-A c.653T>A p.Leu218* Nonsense 6/27 - 2
7-117175380-CA-TG c.658_659inv p.Gln220Trp Missense 6/27 - 2
7-117175380-C-T c.658C>T p.Gln220* Nonsense 6/27 - 13
7-117175385-G-A c.663G>A p.Ala221Ala Synonymous 6/27 - 1
7-117175385-G-C c.663G>C p.Ala221Ala Synonymous 6/27 - 1
7-117175385-G-T c.663G>T p.Ala221Ala Synonymous 6/27 - 1
7-117175389-GC-TG c.667_668delinsTG p.Ala223Cys Missense 6/27 - 1
7-117175396-G-C c.674G>C p.Cys225Ser Missense 6/27 - 3
7-117175395-T-A c.673T>A p.Cys225Ser Missense 6/27 - 3
7-117175396-G-A c.674G>A p.Cys225Tyr Missense 6/27 - 1
7-117175397-T-A c.675T>A p.Cys225* Nonsense 6/27 - 2
7-117175402-T-G c.680T>G p.Leu227Arg Missense 6/27 - 4
7-117175404-GG-CT c.682_683delinsCT p.Gly228Leu Missense 6/27 - 2
7-117175407-T-C c.685T>C p.Phe229Leu Missense 6/27 - 1
7-117175409-C-A c.687C>A p.Phe229Leu Missense 6/27 - 1
7-117175409-C-G c.687C>G p.Phe229Leu Missense 6/27 - 1
7-117175407-TT-GC c.685_686delinsGC p.Phe229Ala Missense 6/27 - 1
7-117175416-GTC-AAG c.694_696delinsAAG p.Val232Lys Missense 6/27 - 2
7-117175417-T-A c.695T>A p.Val232Asp Missense 6/27 - 26
7-117175417-T-C c.695T>C p.Val232Ala Missense 6/27 - 1
7-117175423-C-T c.701C>T p.Ala234Val Missense 6/27 - 1
7-117175428-TT-GC c.706_707delinsGC p.Phe236Ala Missense 6/27 - 1
7-117175431-CA-GC c.709_710delinsGC p.Gln237Ala Missense 6/27 - 1
7-117175431-C-G c.709C>G p.Gln237Glu Missense 6/27 - 1
7-117175435-C-T c.713C>T p.Ala238Val Missense 6/27 - 2
7-117175442-TAGGGAGAATGATGATGAAGTACA-T c.720_742del p.Gly241Argfs*9 SpliceDonorDeletion 6/27 - 1
7-117175446-AG-GA c.724_725delinsGA p.Arg242Glu Missense 6/27 - 1
7-117175460-G-A c.738G>A p.Lys246Lys Synonymous 6/27 - 1
7-117175462-A-T c.740A>T p.Tyr247Phe Missense 6/27 - 1
7-117175464-A-G c.742A>G p.Arg248Gly Missense 6/27 - 2
7-117175464-A-T c.742A>T p.Arg248* Nonsense 6/27 - 1
7-117175464-AG-CA c.742_743delinsCA p.Arg248Gln Missense 6/27 - 3
7-117175465-G-C c.743G>C p.Arg248Thr Missense 6/27 - 3
7-117175466-G-A c.743+1G>A - IntronicSNV - 6/26 1
7-117175505-A-G c.743+40A>G - IntronicSNV - 6/26 4
7-117175713-G-A c.743+248G>A - IntronicSNV - 6/26 1
7-117176565-TATTA-T c.744-37_744-34del - IntronicDeletion - 6/26 1
7-117176587-T-C c.744-15T>C - IntronicSNV - 6/26 1
7-117176593-TGATT-T c.744-9_744-6del - IntronicDeletion - 6/26 3
7-117176602-GAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTGATTACCTCAGAAATGATTGAAA-G c.745_803del p.Asp249Tyrfs*5 SpliceAcceptorDeletion 7/27 - 2
7-117176602-GA-G c.744del p.Asp249Ilefs*12 Frameshift 7/27 - 1
7-117176603-G-T c.745G>T p.Asp249Tyr Missense 7/27 - 1
7-117176604-A-C c.746A>C p.Asp249Ala Missense 7/27 - 1
7-117176609-AGA-TGT c.751_753delinsTGT p.Arg251Cys Missense 7/27 - 1
7-117176611-GAG-G c.753_754del p.Arg251Serfs*6 Frameshift 7/27 - 1
7-117176615-G-A c.757G>A p.Gly253Arg Missense 7/27 - 1
7-117176618-AAG-TGT c.760_762delinsTGT p.Lys254Cys Missense 7/27 - 1
7-117176619-A-G c.761A>G p.Lys254Arg Missense 7/27 - 1
7-117176619-AA-A c.761del p.Lys254Argfs*7 Frameshift 7/27 - 1
7-117176626-T-C c.768T>C p.Ser256Ser Synonymous 7/27 - 1
7-117176630-A-G c.772A>G p.Arg258Gly Missense 7/27 - 9
7-117176636-GT-AG c.778_779delinsAG p.Val260Arg Missense 7/27 - 1
7-117176636-GTG-ATC c.778_780delinsATC p.Val260Ile Missense 7/27 - 1
7-117176636-GT-CC c.778_779delinsCC p.Val260Pro Missense 7/27 - 1
7-117176637-TG-AC c.779_780delinsAC p.Val260Asp Missense 7/27 - 1
7-117176645-T-G c.787T>G p.Ser263Ala Missense 7/27 - 2
7-117176648-G-A c.790G>A p.Glu264Lys Missense 7/27 - 1
7-117176649-A-T c.791A>T p.Glu264Val Missense 7/27 - 5
7-117176652-T-G c.794T>G p.Met265Arg Missense 7/27 - 1
7-117176657-GAA-TGT c.799_801delinsTGT p.Glu267Cys Missense 7/27 - 1
7-117176657-G-A c.799G>A p.Glu267Lys Missense 7/27 - 2
7-117176657-GA-AG c.799_800delinsAG p.Glu267Arg Missense 7/27 - 1
7-117176658-A-C c.800A>C p.Glu267Ala Missense 7/27 - 1
7-117176658-A-G c.800A>G p.Glu267Gly Missense 7/27 - 1
7-117176660-AA-TG c.802_803delinsTG p.Asn268Cys Missense 7/27 - 2
7-117176661-AA-A c.803del p.Asn268Ilefs*17 Frameshift 7/27 - 3
7-117176670-C-G c.812C>G p.Ser271Cys Missense 7/27 - 1
7-117176678-GCA-TGT c.820_822delinsTGT p.Ala274Cys Missense 7/27 - 1
7-117176684-T-A c.826T>A p.Cys276Ser Missense 7/27 - 3
7-117176685-G-C c.827G>C p.Cys276Ser Missense 7/27 - 3
7-117176686-C-T c.828C>T p.Cys276Cys Synonymous 7/27 - 1
7-117176686-C-A c.828C>A p.Cys276* Nonsense 7/27 - 3
7-117176687-T-A c.829T>A p.Trp277Arg Missense 7/27 - 1
7-117176687-T-C c.829T>C p.Trp277Arg Missense 7/27 - 1
7-117176688-G-A c.830G>A p.Trp277* Nonsense 7/27 - 1
7-117176689-G-A c.831G>A p.Trp277* Nonsense 7/27 - 1
7-117176699-A-G c.841A>G p.Met281Val Missense 7/27 - 1
7-117176708-A-AA c.850dup p.Met284Asnfs*3 Frameshift 7/27 - 1
7-117176709-T-C c.851T>C p.Met284Thr Missense 7/27 - 1
7-117176711-A-T c.853A>T p.Ile285Phe Missense 7/27 - 3
7-117176717-A-T c.859A>T p.Asn287Tyr Missense 7/27 - 13
7-117176719-ACTTAA-A c.861_865del p.Asn287Lysfs*19 Frameshift 7/27 - 1
7-117176719-C-G c.861C>G p.Asn287Lys Missense 7/27 - 2
7-117176723-A-T c.865A>T p.Arg289* Nonsense 7/27 - 3
7-117176726-C-T c.868C>T p.Gln290* Nonsense 7/27 - 3
7-117176732-G-A c.869+5G>A - IntronicSNV - 7/26 1
7-117176738-C-T c.869+11C>T - IntronicSNV - 7/26 6
7-117178754-A-G c.870-1400A>G - IntronicSNV - 7/26 1
7-117179041-AGAAT-A c.870-1113_870-1110del - IntronicDeletion - 7/26 1
7-117180153-G-C c.870-1G>C - IntronicSNV - 7/26 3
7-117180156-C-T c.872C>T p.Thr291Ile Missense 8/27 - 1
7-117180158-G-A c.874G>A p.Glu292Lys Missense 8/27 - 1
7-117180159-A-T c.875A>T p.Glu292Val Missense 8/27 - 1
7-117180164-AAA-TGT c.880_882delinsTGT p.Lys294Cys Missense 8/27 - 1
7-117180167-CTG-TGT c.883_885delinsTGT p.Leu295Cys Missense 8/27 - 1
7-117180173-CGG-TGT c.889_891delinsTGT p.Arg297Cys Missense 8/27 - 1
7-117180174-G-A c.890G>A p.Arg297Gln Missense 8/27 - 5
7-117180176-AAG-TGT c.892_894delinsTGT p.Lys298Cys Missense 8/27 - 1
7-117180179-GC-AG c.895_896delinsAG p.Ala299Arg Missense 8/27 - 1
7-117180179-GCA-TGT c.895_897delinsTGT p.Ala299Cys Missense 8/27 - 1
7-117180182-G-A c.898G>A p.Ala300Thr Missense 8/27 - 1
7-117180183-C-G c.899C>G p.Ala300Gly Missense 8/27 - 1
7-117180186-A-G c.902A>G p.Tyr301Cys Missense 8/27 - 4
7-117180191-AGA-TGT c.907_909delinsTGT p.Arg303Cys Missense 8/27 - 8
7-117180191-AG-CA c.907_908delinsCA p.Arg303Gln Missense 8/27 - 4
7-117180191-AG-GA c.907_908delinsGA p.Arg303Glu Missense 8/27 - 2
7-117180192-G-A c.908G>A p.Arg303Lys Missense 8/27 - 1
7-117180194-TA-AC c.910_911delinsAC p.Tyr304Thr Missense 8/27 - 1
7-117180194-TA-GC c.910_911delinsGC p.Tyr304Ala Missense 8/27 - 2
7-117180195-A-G c.911A>G p.Tyr304Cys Missense 8/27 - 1
7-117180195-A-T c.911A>T p.Tyr304Phe Missense 8/27 - 1
7-117180199-C-T c.915C>T p.Phe305Phe Synonymous 8/27 - 1
7-117180200-AA-TG c.916_917delinsTG p.Asn306Cys Missense 8/27 - 3
7-117180200-AAT-GAG c.916_918delinsGAG p.Asn306Glu Missense 8/27 - 3
7-117180200-A-G c.916A>G p.Asn306Asp Missense 8/27 - 4
7-117180201-AT-GG c.917_918delinsGG p.Asn306Arg Missense 8/27 - 1
7-117180203-A-T c.919A>T p.Ser307Cys Missense 8/27 - 2
7-117180204-G-A c.920G>A p.Ser307Asn Missense 8/27 - 2
7-117180203-A-C c.919A>C p.Ser307Arg Missense 8/27 - 1
7-117180205-C-G c.921C>G p.Ser307Arg Missense 8/27 - 1
7-117180205-C-A c.921C>A p.Ser307Arg Missense 8/27 - 1
7-117180206-T-G c.922T>G p.Ser308Ala Missense 8/27 - 1
7-117180209-G-A c.925G>A p.Ala309Thr Missense 8/27 - 1
7-117180209-G-T c.925G>T p.Ala309Ser Missense 8/27 - 1
7-117180210-C-G c.926C>G p.Ala309Gly Missense 8/27 - 1
7-117180211-C-T c.927C>T p.Ala309Ala Synonymous 8/27 - 1
7-117180211-C-A c.927C>A p.Ala309Ala Synonymous 8/27 - 1
7-117180211-C-G c.927C>G p.Ala309Ala Synonymous 8/27 - 2
7-117180212-TT-CG c.928_929delinsCG p.Phe310Arg Missense 8/27 - 1
7-117180213-T-G c.929T>G p.Phe310Cys Missense 8/27 - 2
7-117180215-TT-CG c.931_932delinsCG p.Phe311Arg Missense 8/27 - 1
7-117180217-C-G c.933C>G p.Phe311Leu Missense 8/27 - 4
7-117180216-T-G c.932T>G p.Phe311Cys Missense 8/27 - 3
7-117180218-TT-GC c.934_935delinsGC p.Phe312Ala Missense 8/27 - 1
7-117180219-TTCT-T c.935_937del p.Phe312del InFrameDeletion 8/27 - 4
7-117180224-G-A c.940G>A p.Gly314Arg Missense 8/27 - 2
7-117180224-GGG-TGT c.940_942delinsTGT p.Gly314Cys Missense 8/27 - 1
7-117180225-G-A c.941G>A p.Gly314Glu Missense 8/27 - 3
7-117180228-T-C c.944T>C p.Phe315Ser Missense 8/27 - 1
7-117180228-T-G c.944T>G p.Phe315Cys Missense 8/27 - 1
7-117180231-T-G c.947T>G p.Phe316Cys Missense 8/27 - 1
7-117180231-T-A c.947T>A p.Phe316Tyr Missense 8/27 - 1
7-117180232-TT-T c.948del p.Phe316Leufs*12 Frameshift 8/27 - 9
7-117180234-T-C c.950T>C p.Val317Ala Missense 8/27 - 1
7-117180242-T-G c.958T>G p.Leu320Val Missense 8/27 - 7
7-117180244-A-AA c.960dup p.Ser321Ilefs*43 Frameshift 8/27 - 2
7-117180244-A-T c.960A>T p.Leu320Phe Missense 8/27 - 1
7-117180248-GTG-TGT c.964_966delinsTGT p.Val322Cys Missense 8/27 - 1
7-117180251-CT-TG c.967_968delinsTG p.Leu323Cys Missense 8/27 - 2
7-117180252-T-C c.968T>C p.Leu323Pro Missense 8/27 - 1
7-117180258-A-T c.974A>T p.Tyr325Phe Missense 8/27 - 1
7-117180258-A-G c.974A>G p.Tyr325Cys Missense 8/27 - 1
7-117180260-GCA-TGT c.976_978delinsTGT p.Ala326Cys Missense 8/27 - 2
7-117180265-A-G c.981A>G p.Leu327Leu Synonymous 8/27 - 1
7-117180269-A-G c.985A>G p.Lys329Glu Missense 8/27 - 1
7-117180269-AA-GC c.985_986delinsGC p.Lys329Ala Missense 8/27 - 2
7-117180269-AAA-TGT c.985_987delinsTGT p.Lys329Cys Missense 8/27 - 1
7-117180272-G-T c.988G>T p.Gly330* Nonsense 8/27 - 11
7-117180272-GGA-TGT c.988_990delinsTGT p.Gly330Cys Missense 8/27 - 1
7-117180273-G-A c.989G>A p.Gly330Glu Missense 8/27 - 3
7-117180275-AT-TG c.991_992delinsTG p.Ile331Cys Missense 8/27 - 1
7-117180278-AT-TG c.994_995delinsTG p.Ile332Cys Missense 8/27 - 1
7-117180281-C-T c.997C>T p.Leu333Phe Missense 8/27 - 1
7-117180281-CT-TG c.997_998delinsTG p.Leu333Cys Missense 8/27 - 4
7-117180282-T-C c.998T>C p.Leu333Pro Missense 8/27 - 1
7-117180284-CG-AA c.1000_1001delinsAA p.Arg334Lys Missense 8/27 - 1
7-117180284-C-T c.1000C>T p.Arg334Trp Missense 8/27 - 139
7-117180284-CG-GA c.1000_1001delinsGA p.Arg334Glu Missense 8/27 - 1
7-117180284-CG-GC c.1000_1001delinsGC p.Arg334Ala Missense 8/27 - 6
7-117180284-CGG-TGT c.1000_1002delinsTGT p.Arg334Cys Missense 8/27 - 25
7-117180285-G-T c.1001G>T p.Arg334Leu Missense 8/27 - 7
7-117180285-G-A c.1001G>A p.Arg334Gln Missense 8/27 - 11
7-117180285-GG-AT c.1001_1002delinsAT p.Arg334His Missense 8/27 - 2
7-117180287-AAA-TGT c.1003_1005delinsTGT p.Lys335Cys Missense 8/27 - 7
7-117180287-AA-GC c.1003_1004delinsGC p.Lys335Ala Missense 8/27 - 7
7-117180287-A-G c.1003A>G p.Lys335Glu Missense 8/27 - 3
7-117180290-ATA-TGT c.1006_1008delinsTGT p.Ile336Cys Missense 8/27 - 5
7-117180291-T-A c.1007T>A p.Ile336Lys Missense 8/27 - 16
7-117180292-A-G c.1008A>G p.Ile336Met Missense 8/27 - 1
7-117180293-T-C c.1009T>C p.Phe337Leu Missense 8/27 - 1
7-117180293-TT-GC c.1009_1010delinsGC p.Phe337Ala Missense 8/27 - 5
7-117180293-TT-CG c.1009_1010delinsCG p.Phe337Arg Missense 8/27 - 1
7-117180295-C-G c.1011C>G p.Phe337Leu Missense 8/27 - 1
7-117180295-C-A c.1011C>A p.Phe337Leu Missense 8/27 - 1
7-117180294-T-A c.1010T>A p.Phe337Tyr Missense 8/27 - 2
7-117180294-T-C c.1010T>C p.Phe337Ser Missense 8/27 - 6
7-117180294-T-G c.1010T>G p.Phe337Cys Missense 8/27 - 11
7-117180296-AC-GG c.1012_1013delinsGG p.Thr338Gly Missense 8/27 - 1
7-117180296-AC-CA c.1012_1013delinsCA p.Thr338His Missense 8/27 - 1
7-117180296-A-G c.1012A>G p.Thr338Ala Missense 8/27 - 13
7-117180296-AC-TG c.1012_1013delinsTG p.Thr338Cys Missense 8/27 - 18
7-117180297-CC-TG c.1013_1014delinsTG p.Thr338Met Missense 8/27 - 1
7-117180297-C-T c.1013C>T p.Thr338Ile Missense 8/27 - 27
7-117180297-C-G c.1013C>G p.Thr338Ser Missense 8/27 - 2
7-117180296-A-T c.1012A>T p.Thr338Ser Missense 8/27 - 2
7-117180299-AC-TG c.1015_1016delinsTG p.Thr339Cys Missense 8/27 - 3
7-117180302-AT-TG c.1018_1019delinsTG p.Ile340Cys Missense 8/27 - 3
7-117180303-T-A c.1019T>A p.Ile340Asn Missense 8/27 - 2
7-117180305-T-C c.1021T>C p.Ser341Pro Missense 8/27 - 7
7-117180305-T-G c.1021T>G p.Ser341Ala Missense 8/27 - 7
7-117180305-TC-AA c.1021_1022delinsAA p.Ser341Lys Missense 8/27 - 3
7-117180306-CA-GT c.1022_1023delinsGT p.Ser341Cys Missense 8/27 - 9
7-117180308-TT-GC c.1024_1025delinsGC p.Phe342Ala Missense 8/27 - 1
7-117180309-T-G c.1025T>G p.Phe342Cys Missense 8/27 - 2
7-117180311-T-A c.1027T>A p.Cys343Ser Missense 8/27 - 3
7-117180312-G-C c.1028G>C p.Cys343Ser Missense 8/27 - 3
7-117180313-GC-G c.1029del p.Cys343* Frameshift 8/27 - 2
7-117180314-AT-CA c.1030_1031delinsCA p.Ile344His Missense 8/27 - 1
7-117180314-AT-TG c.1030_1031delinsTG p.Ile344Cys Missense 8/27 - 13
7-117180314-AT-GC c.1030_1031delinsGC p.Ile344Ala Missense 8/27 - 1
7-117180315-TT-AG c.1031_1032delinsAG p.Ile344Lys Missense 8/27 - 2
7-117180317-GTT-AAG c.1033_1035delinsAAG p.Val345Lys Missense 8/27 - 2
7-117180317-GT-TG c.1033_1034delinsTG p.Val345Cys Missense 8/27 - 6
7-117180317-GT-CA c.1033_1034delinsCA p.Val345His Missense 8/27 - 1
7-117180320-CTG-TGT c.1036_1038delinsTGT p.Leu346Cys Missense 8/27 - 2
7-117180320-C-T c.1036C>T p.Leu346Leu Synonymous 8/27 - 1
7-117180321-T-C c.1037T>C p.Leu346Pro Missense 8/27 - 6
7-117180321-T-TA c.1037_1038insA p.Arg347Alafs*17 Frameshift 8/27 - 1
7-117180323-CG-GT c.1039_1040delinsGT p.Arg347Val Missense 8/27 - 1
7-117180323-CGC-TGA c.1039_1041delinsTGA p.Arg347* Nonsense 8/27 - 1
7-117180323-CG-GA c.1039_1040delinsGA p.Arg347Asp Missense 8/27 - 11
7-117180323-CG-GC c.1039_1040delinsGC p.Arg347Ala Missense 8/27 - 3
7-117180323-C-A c.1039C>A p.Arg347Ser Missense 8/27 - 1
7-117180323-CGC-GAG c.1039_1041delinsGAG p.Arg347Glu Missense 8/27 - 2
7-117180323-C-T c.1039C>T p.Arg347Cys Missense 8/27 - 9
7-117180323-CGC-AAG c.1039_1041delinsAAG p.Arg347Lys Missense 8/27 - 2
7-117180324-G-T c.1040G>T p.Arg347Leu Missense 8/27 - 6
7-117180324-G-C c.1040G>C p.Arg347Pro Missense 8/27 - 135
7-117180324-G-A c.1040G>A p.Arg347His Missense 8/27 - 63
7-117180324-GC-AA c.1040_1041delinsAA p.Arg347Gln Missense 8/27 - 1
7-117180326-ATG-TGT c.1042_1044delinsTGT p.Met348Cys Missense 8/27 - 12
7-117180326-A-G c.1042A>G p.Met348Val Missense 8/27 - 3
7-117180327-T-A c.1043T>A p.Met348Lys Missense 8/27 - 7
7-117180327-T-G c.1043T>G p.Met348Arg Missense 8/27 - 1
7-117180329-GCG-TGT c.1045_1047delinsTGT p.Ala349Cys Missense 8/27 - 3
7-117180329-GC-AA c.1045_1046delinsAA p.Ala349Lys Missense 8/27 - 2
7-117180330-C-T c.1046C>T p.Ala349Val Missense 8/27 - 5
7-117180332-GT-TG c.1048_1049delinsTG p.Val350Cys Missense 8/27 - 2
7-117180335-AC-TG c.1051_1052delinsTG p.Thr351Cys Missense 8/27 - 5
7-117180335-A-G c.1051A>G p.Thr351Ala Missense 8/27 - 1
7-117180336-C-T c.1052C>T p.Thr351Ile Missense 8/27 - 1
7-117180336-C-G c.1052C>G p.Thr351Ser Missense 8/27 - 3
7-117180338-CGG-TGT c.1054_1056delinsTGT p.Arg352Cys Missense 8/27 - 22
7-117180338-CG-GA c.1054_1055delinsGA p.Arg352Glu Missense 8/27 - 8
7-117180338-C-T c.1054C>T p.Arg352Trp Missense 8/27 - 3
7-117180338-C-G c.1054C>G p.Arg352Gly Missense 8/27 - 1
7-117180338-CG-GC c.1054_1055delinsGC p.Arg352Ala Missense 8/27 - 4
7-117180338-CG-AA c.1054_1055delinsAA p.Arg352Lys Missense 8/27 - 3
7-117180339-G-A c.1055G>A p.Arg352Gln Missense 8/27 - 37
7-117180339-GG-AT c.1055_1056delinsAT p.Arg352His Missense 8/27 - 2
7-117180341-CAA-TGT c.1057_1059delinsTGT p.Gln353Cys Missense 8/27 - 3
7-117180343-A-C c.1059A>C p.Gln353His Missense 8/27 - 1
7-117180344-T-A c.1060T>A p.Phe354Ile Missense 8/27 - 1
7-117180345-T-G c.1061T>G p.Phe354Cys Missense 8/27 - 1
7-117180347-C-T c.1063C>T p.Pro355Ser Missense 8/27 - 1
7-117180347-C-G c.1063C>G p.Pro355Ala Missense 8/27 - 2
7-117180347-CC-TT c.1063_1064delinsTT p.Pro355Phe Missense 8/27 - 1
7-117180347-CC-TG c.1063_1064delinsTG p.Pro355Cys Missense 8/27 - 1
7-117180348-C-T c.1064C>T p.Pro355Leu Missense 8/27 - 2
7-117180348-C-G c.1064C>G p.Pro355Arg Missense 8/27 - 1
7-117180352-G-A c.1068G>A p.Trp356* Nonsense 8/27 - 1
7-117180351-G-A c.1067G>A p.Trp356* Nonsense 8/27 - 1
7-117180352-G-T c.1068G>T p.Trp356Cys Missense 8/27 - 3
7-117180352-G-C c.1068G>C p.Trp356Cys Missense 8/27 - 3
7-117180353-G-A c.1069G>A p.Ala357Thr Missense 8/27 - 1
7-117180354-C-T c.1070C>T p.Ala357Val Missense 8/27 - 1
7-117180358-A-G c.1074A>G p.Val358Val Synonymous 8/27 - 1
7-117180359-C-T c.1075C>T p.Gln359* Nonsense 8/27 - 2
7-117180359-C-A c.1075C>A p.Gln359Lys Missense 8/27 - 8
7-117180360-A-G c.1076A>G p.Gln359Arg Missense 8/27 - 2
7-117180362-A-G c.1078A>G p.Thr360Ala Missense 8/27 - 1
7-117180363-C-A c.1079C>A p.Thr360Lys Missense 8/27 - 5
7-117180363-C-T c.1079C>T p.Thr360Ile Missense 8/27 - 1
7-117180365-T-A c.1081T>A p.Trp361Arg Missense 8/27 - 1
7-117180365-AT-A c.1081del p.Trp361Glyfs*8 Frameshift 8/27 - 2
7-117180367-G-A c.1083G>A p.Trp361* Nonsense 8/27 - 1
7-117180368-TA-GC c.1084_1085delinsGC p.Tyr362Ala Missense 8/27 - 1
7-117180370-T-A c.1086T>A p.Tyr362* Nonsense 8/27 - 1
7-117180374-T-G c.1090T>G p.Ser364Ala Missense 8/27 - 1
7-117180374-T-C c.1090T>C p.Ser364Pro Missense 8/27 - 1
7-117180375-C-G c.1091C>G p.Ser364Cys Missense 8/27 - 1
7-117180378-T-C c.1094T>C p.Leu365Pro Missense 8/27 - 1
7-117180382-A-G c.1098A>G p.Gly366Gly Synonymous 8/27 - 1
7-117180388-A-C c.1104A>C p.Ile368Ile Synonymous 8/27 - 1
7-117180392-A-G c.1108A>G p.Lys370Glu Missense 8/27 - 1
7-117180392-A-C c.1108A>C p.Lys370Gln Missense 8/27 - 2
7-117180392-AAA-TGT c.1108_1110delinsTGT p.Lys370Cys Missense 8/27 - 2
7-117180395-AT-GC c.1111_1112delinsGC p.Ile371Ala Missense 8/27 - 1
7-117180400-G-A c.1116G>A p.Gln372Gln Synonymous 8/27 - 1
7-117180401-G-A c.1116+1G>A - IntronicSNV - 8/26 6
7-117180402-T-A c.1116+2T>A - IntronicSNV - 8/26 1
7-117181152-A-G c.1116+752A>G - IntronicSNV - 8/26 1
7-117182052-G-T c.1117-18G>T - IntronicSNV - 8/26 1
7-117182062-A-G c.1117-8A>G - IntronicSNV - 8/26 1
7-117182065-A-G c.1117-5A>G - IntronicSNV - 8/26 1
7-117182069-G-A c.1117-1G>A - IntronicSNV - 8/26 1
7-117182069-G-C c.1117-1G>C - IntronicSNV - 8/26 2
7-117182070-GAT-TAA c.1117_1119delinsTAA p.Asp373* Nonsense 9/27 - 1
7-117182070-G-A c.1117G>A p.Asp373Asn Missense 9/27 - 1
7-117182073-TT-GC c.1120_1121delinsGC p.Phe374Ala Missense 9/27 - 1
7-117182076-TT-GC c.1123_1124delinsGC p.Leu375Ala Missense 9/27 - 1
7-117182078-A-C c.1125A>C p.Leu375Phe Missense 9/27 - 2
7-117182078-A-T c.1125A>T p.Leu375Phe Missense 9/27 - 2
7-117182082-AA-GC c.1129_1130delinsGC p.Lys377Ala Missense 9/27 - 1
7-117182083-A-AA c.1130dup p.Gln378Alafs*4 Frameshift 9/27 - 3
7-117182083-A-G c.1130A>G p.Lys377Arg Missense 9/27 - 1
7-117182085-C-T c.1132C>T p.Gln378* Nonsense 9/27 - 3
7-117182088-G-T c.1135G>T p.Glu379* Nonsense 9/27 - 3
7-117182098-C-T c.1145C>T p.Thr382Ile Missense 9/27 - 1
7-117182116-C-A c.1163C>A p.Thr388Lys Missense 9/27 - 1
7-117182116-C-T c.1163C>T p.Thr388Met Missense 9/27 - 1
7-117182117-G-A c.1164G>A p.Thr388Thr Synonymous 9/27 - 1
7-117182117-G-T c.1164G>T p.Thr388Thr Synonymous 9/27 - 2
7-117182118-A-T c.1165A>T p.Thr389Ser Missense 9/27 - 1
7-117182119-C-G c.1166C>G p.Thr389Ser Missense 9/27 - 1
7-117182123-A-C c.1170A>C p.Thr390Thr Synonymous 9/27 - 1
7-117182128-T-G c.1175T>G p.Val392Gly Missense 9/27 - 2
7-117182134-T-G c.1181T>G p.Met394Arg Missense 9/27 - 1
7-117182142-G-GG c.1189dup p.Val397Glyfs*14 Frameshift 9/27 - 1
7-117182144-A-G c.1191A>G p.Val397Val Synonymous 9/27 - 1
7-117182149-C-A c.1196C>A p.Ala399Asp Missense 9/27 - 2
7-117182151-TT-GC c.1198_1199delinsGC p.Phe400Ala Missense 9/27 - 1
7-117182154-TGG-ATC c.1201_1203delinsATC p.Trp401Ile Missense 9/27 - 2
7-117182154-TG-AT c.1201_1202delinsAT p.Trp401Met Missense 9/27 - 1
7-117182154-T-G c.1201T>G p.Trp401Gly Missense 9/27 - 11
7-117182154-TG-GC c.1201_1202delinsGC p.Trp401Ala Missense 9/27 - 1
7-117182155-GG-AT c.1202_1203delinsAT p.Trp401Tyr Missense 9/27 - 2
7-117182155-GG-TT c.1202_1203delinsTT p.Trp401Phe Missense 9/27 - 7
7-117182155-G-A c.1202G>A p.Trp401* Nonsense 9/27 - 5
7-117182156-G-A c.1203G>A p.Trp401* Nonsense 9/27 - 4
7-117182156-G-T c.1203G>T p.Trp401Cys Missense 9/27 - 2
7-117182157-G-T c.1204G>T p.Glu402* Nonsense 9/27 - 2
7-117182157-GAG-TGT c.1204_1206delinsTGT p.Glu402Cys Missense 9/27 - 1
7-117182161-A-C c.1208A>C p.Glu403Ala Missense 9/27 - 1
7-117182162-G-A c.1209G>A p.Glu403Glu Synonymous 9/27 - 1
7-117182162-G-C c.1209G>C p.Glu403Asp Missense 9/27 - 1
7-117182163-G-A c.1209+1G>A - IntronicSNV - 9/26 3
7-117188682-TGT-T c.1210-13_1210-12del - IntronicDeletion - 9/26 1
7-117188684-T-G c.1210-11T>G - IntronicSNV - 9/26 2
7-117188688-TTT-T c.1210-7_1210-6del - IntronicDeletion - 9/26 2
7-117188689-TT-T c.1210-6del - IntronicDeletion - 9/26 1
7-117188689-T-A c.1210-6T>A - IntronicSNV - 9/26 1
7-117188696-G-T c.1211G>T p.Gly404Val Missense 10/27 - 1
7-117188704-GG-G c.1219del p.Glu407Asnfs*35 Frameshift 10/27 - 1
7-117188704-GAA-TGT c.1219_1221delinsTGT p.Glu407Cys Missense 10/27 - 1
7-117188706-AA-A c.1221del p.Glu407Aspfs*35 Frameshift 10/27 - 1
7-117188708-TA-GT c.1223_1224delinsGT p.Leu408Cys Missense 10/27 - 1
7-117188710-T-C c.1225T>C p.Phe409Leu Missense 10/27 - 4
7-117188712-T-G c.1227T>G p.Phe409Leu Missense 10/27 - 4
7-117188712-T-A c.1227T>A p.Phe409Leu Missense 10/27 - 4
7-117188719-AGCAAA-A c.1234_1238del p.Ala412Thrfs*4 Frameshift 10/27 - 1
7-117188720-GC-G c.1235del p.Ala412Glufs*30 Frameshift 10/27 - 1
7-117188725-C-T c.1240C>T p.Gln414* Nonsense 10/27 - 1
7-117188726-A-C c.1241A>C p.Gln414Pro Missense 10/27 - 1
7-117188728-AAACAA-A c.1243_1247del p.Asn415* Frameshift 10/27 - 2
7-117188732-A-G c.1247A>G p.Asn416Ser Missense 10/27 - 1
7-117188736-C-A c.1251C>A p.Asn417Lys Missense 10/27 - 3
7-117188741-G-T c.1256G>T p.Arg419Ile Missense 10/27 - 2
7-117188746-A-G c.1261A>G p.Thr421Ala Missense 10/27 - 2
7-117188749-TC-GA c.1264_1265inv p.Ser422Asp Missense 10/27 - 3
7-117188749-T-G c.1264T>G p.Ser422Ala Missense 10/27 - 4
7-117188749-T-C c.1264T>C p.Ser422Pro Missense 10/27 - 7
7-117188750-C-T c.1265C>T p.Ser422Phe Missense 10/27 - 1
7-117188763-AC-A c.1278del p.Asp426Glufs*16 Frameshift 10/27 - 1
7-117188764-AG-CT c.1279_1280inv p.Ser427Leu Missense 10/27 - 1
7-117188767-C-G c.1282C>G p.Leu428Val Missense 10/27 - 1
7-117188770-TT-AA c.1285_1286inv p.Phe429Asn Missense 10/27 - 1
7-117188771-T-C c.1286T>C p.Phe429Ser Missense 10/27 - 17
7-117188773-TT-GG c.1288_1289delinsGG p.Phe430Gly Missense 10/27 - 1
7-117188776-A-G c.1291A>G p.Ser431Gly Missense 10/27 - 1
7-117188784-C-A c.1299C>A p.Phe433Leu Missense 10/27 - 6
7-117188782-T-A c.1297T>A p.Phe433Ile Missense 10/27 - 1
7-117188785-T-C c.1300T>C p.Ser434Pro Missense 10/27 - 4
7-117188786-C-G c.1301C>G p.Ser434* Nonsense 10/27 - 1
7-117188786-C-A c.1301C>A p.Ser434* Nonsense 10/27 - 1
7-117188786-CA-GT c.1301_1302delinsGT p.Ser434Cys Missense 10/27 - 1
7-117188797-A-G c.1312A>G p.Thr438Ala Missense 10/27 - 1
7-117188800-C-T c.1315C>T p.Pro439Ser Missense 10/27 - 2
7-117188800-C-G c.1315C>G p.Pro439Ala Missense 10/27 - 1
7-117188807-T-C c.1322T>C p.Leu441Pro Missense 10/27 - 3
7-117188809-A-T c.1324A>T p.Lys442* Nonsense 10/27 - 1
7-117188812-G-T c.1327G>T p.Asp443Tyr Missense 10/27 - 15
7-117188815-TAT-T c.1330_1331del p.Ile444* Frameshift 10/27 - 1
7-117188816-T-G c.1331T>G p.Ile444Ser Missense 10/27 - 1
7-117188821-T-C c.1336T>C p.Phe446Leu Missense 10/27 - 1
7-117188825-AA-A c.1340del p.Lys447Argfs*2 Frameshift 10/27 - 1
7-117188825-A-G c.1340A>G p.Lys447Arg Missense 10/27 - 2
7-117188836-GG-AA c.1351_1352delinsAA p.Gly451Lys Missense 10/27 - 1
7-117188837-G-T c.1352G>T p.Gly451Val Missense 10/27 - 2
7-117188849-C-A c.1364C>A p.Ala455Glu Missense 10/27 - 124
7-117188849-C-T c.1364C>T p.Ala455Val Missense 10/27 - 1
7-117188850-G-A c.1365G>A p.Ala455Ala Synonymous 10/27 - 1
7-117188850-G-T c.1365G>T p.Ala455Ala Synonymous 10/27 - 1
7-117188851-G-T c.1366G>T p.Val456Phe Missense 10/27 - 4
7-117188852-T-C c.1367T>C p.Val456Ala Missense 10/27 - 7
7-117188854-G-C c.1369G>C p.Ala457Pro Missense 10/27 - 2
7-117188857-G-A c.1372G>A p.Gly458Arg Missense 10/27 - 1
7-117188857-G-C c.1372G>C p.Gly458Arg Missense 10/27 - 1
7-117188858-G-T c.1373G>T p.Gly458Val Missense 10/27 - 2
7-117188858-G-A c.1373G>A p.Gly458Glu Missense 10/27 - 1
7-117188860-ATCCACTGGA-A c.1375_1383del p.Ser459_Gly461del InFrameDeletion 10/27 - 1
7-117188861-C-G c.1376C>G p.Ser459Cys Missense 10/27 - 1
7-117188863-A-G c.1378A>G p.Thr460Ala Missense 10/27 - 1
7-117188863-A-T c.1378A>T p.Thr460Ser Missense 10/27 - 1
7-117188864-C-G c.1379C>G p.Thr460Ser Missense 10/27 - 1
7-117188867-GGAG-G c.1382_1384del p.Gly461del InFrameDeletion 10/27 - 1
7-117188867-G-A c.1382G>A p.Gly461Glu Missense 10/27 - 2
7-117188869-GCA-TTT c.1384_1386delinsTTT p.Ala462Phe Missense 10/27 - 4
7-117188869-GCA-TGT c.1384_1386delinsTGT p.Ala462Cys Missense 10/27 - 2
7-117188873-G-A c.1388G>A p.Gly463Asp Missense 10/27 - 2
7-117188875-AA-GC c.1390_1391delinsGC p.Lys464Ala Missense 10/27 - 24
7-117188875-A-G c.1390A>G p.Lys464Glu Missense 10/27 - 1
7-117188877-G-C c.1392G>C p.Lys464Asn Missense 10/27 - 2
7-117188877-G-T c.1392G>T p.Lys464Asn Missense 10/27 - 2
7-117188878-G-A c.1392+1G>A - IntronicSNV - 10/26 1
7-117189272-G-A c.1392+395G>A - IntronicSNV - 10/26 1
7-117189272-G-C c.1392+395G>C - IntronicSNV - 10/26 1
7-117190996-T-A c.1392+2119T>A - IntronicSNV - 10/26 1
7-117190996-T-G c.1392+2119T>G - IntronicSNV - 10/26 1
7-117194082-G-A c.1392+5205G>A - IntronicSNV - 10/26 1
7-117199457-A-G c.1393-61A>G - IntronicSNV - 10/26 2
7-117199476-G-A c.1393-42G>A - IntronicSNV - 10/26 1
7-117199517-G-A c.1393-1G>A - IntronicSNV - 10/26 8
7-117199519-C-T c.1394C>T p.Thr465Ile Missense 11/27 - 2
7-117199519-C-A c.1394C>A p.Thr465Asn Missense 11/27 - 2
7-117199521-T-A c.1396T>A p.Ser466Thr Missense 11/27 - 2
7-117199522-CA-GG c.1397_1398delinsGG p.Ser466Trp Missense 11/27 - 1
7-117199522-C-G c.1397C>G p.Ser466* Nonsense 11/27 - 22
7-117199522-C-A c.1397C>A p.Ser466* Nonsense 11/27 - 14
7-117199524-C-T c.1399C>T p.Leu467Phe Missense 11/27 - 10
7-117199525-T-C c.1400T>C p.Leu467Pro Missense 11/27 - 8
7-117199528-T-C c.1403T>C p.Leu468Pro Missense 11/27 - 1
7-117199530-A-G c.1405A>G p.Met469Val Missense 11/27 - 1
7-117199532-G-C c.1407G>C p.Met469Ile Missense 11/27 - 3
7-117199532-G-A c.1407G>A p.Met469Ile Missense 11/27 - 3
7-117199532-G-T c.1407G>T p.Met469Ile Missense 11/27 - 3
7-117199533-G-A c.1408G>A p.Val470Met Missense 11/27 - 35
7-117199543-GG-G c.1418del p.Gly473Glufs*54 Frameshift 11/27 - 5
7-117199545-G-C c.1420G>C p.Glu474Gln Missense 11/27 - 2
7-117199545-GAA-TTT c.1420_1422delinsTTT p.Glu474Phe Missense 11/27 - 1
7-117199545-GAA-TGT c.1420_1422delinsTGT p.Glu474Cys Missense 11/27 - 1
7-117199545-GA-AG c.1420_1421delinsAG p.Glu474Arg Missense 11/27 - 1
7-117199546-A-C c.1421A>C p.Glu474Ala Missense 11/27 - 1
7-117199547-A-C c.1422A>C p.Glu474Asp Missense 11/27 - 1
7-117199547-A-T c.1422A>T p.Glu474Asp Missense 11/27 - 1
7-117199548-CTG-TAT c.1423_1425delinsTAT p.Leu475Tyr Missense 11/27 - 2
7-117199551-GAG-TGT c.1426_1428delinsTGT p.Glu476Cys Missense 11/27 - 1
7-117199554-C-G c.1429C>G p.Pro477Ala Missense 11/27 - 1
7-117199555-C-T c.1430C>T p.Pro477Leu Missense 11/27 - 1
7-117199558-C-G c.1433C>G p.Ser478* Nonsense 11/27 - 1
7-117199558-C-A c.1433C>A p.Ser478* Nonsense 11/27 - 1
7-117199560-G-T c.1435G>T p.Glu479* Nonsense 11/27 - 1
7-117199562-G-C c.1437G>C p.Glu479Asp Missense 11/27 - 1
7-117199562-G-T c.1437G>T p.Glu479Asp Missense 11/27 - 1
7-117199563-GGT-AAG c.1438_1440delinsAAG p.Gly480Lys Missense 11/27 - 1
7-117199563-G-T c.1438G>T p.Gly480Cys Missense 11/27 - 18
7-117199563-G-A c.1438G>A p.Gly480Ser Missense 11/27 - 2
7-117199564-G-A c.1439G>A p.Gly480Asp Missense 11/27 - 2
7-117199575-C-T c.1450C>T p.His484Tyr Missense 11/27 - 1
7-117199578-A-T c.1453A>T p.Ser485Cys Missense 11/27 - 3
7-117199580-T-G c.1455T>G p.Ser485Arg Missense 11/27 - 1
7-117199578-A-C c.1453A>C p.Ser485Arg Missense 11/27 - 1
7-117199580-T-A c.1455T>A p.Ser485Arg Missense 11/27 - 1
7-117199581-G-A c.1456G>A p.Gly486Arg Missense 11/27 - 2
7-117199581-G-C c.1456G>C p.Gly486Arg Missense 11/27 - 2
7-117199583-A-T c.1458A>T p.Gly486Gly Synonymous 11/27 - 1
7-117199583-A-C c.1458A>C p.Gly486Gly Synonymous 11/27 - 1
7-117199583-A-G c.1458A>G p.Gly486Gly Synonymous 11/27 - 1
7-117199586-A-T c.1461A>T p.Arg487Ser Missense 11/27 - 1
7-117199586-A-C c.1461A>C p.Arg487Ser Missense 11/27 - 1
7-117199591-C-A c.1466C>A p.Ser489* Nonsense 11/27 - 49
7-117199595-C-G c.1470C>G p.Phe490Leu Missense 11/27 - 1
7-117199595-C-A c.1470C>A p.Phe490Leu Missense 11/27 - 1
7-117199593-T-C c.1468T>C p.Phe490Leu Missense 11/27 - 1
7-117199596-T-A c.1471T>A p.Cys491Ser Missense 11/27 - 3
7-117199597-G-C c.1472G>C p.Cys491Ser Missense 11/27 - 3
7-117199596-TG-GT c.1471_1472delinsGT p.Cys491Val Missense 11/27 - 1
7-117199596-TG-GC c.1471_1472delinsGC p.Cys491Ala Missense 11/27 - 1
7-117199598-T-A c.1473T>A p.Cys491* Nonsense 11/27 - 1
7-117199599-T-C c.1474T>C p.Ser492Pro Missense 11/27 - 16
7-117199600-C-T c.1475C>T p.Ser492Phe Missense 11/27 - 20
7-117199602-C-T c.1477C>T p.Gln493* Nonsense 11/27 - 23
7-117199602-TCA-T c.1477_1478del p.Gln493Valfs*10 Frameshift 11/27 - 1
7-117199603-A-G c.1478A>G p.Gln493Arg Missense 11/27 - 3
7-117199603-A-T c.1478A>T p.Gln493Leu Missense 11/27 - 1
7-117199604-G-C c.1479G>C p.Gln493His Missense 11/27 - 1
7-117199605-TT-AA c.1480_1481inv p.Phe494Asn Missense 11/27 - 28
7-117199605-TT-GG c.1480_1481delinsGG p.Phe494Gly Missense 11/27 - 1
7-117199608-T-C c.1483T>C p.Ser495Pro Missense 11/27 - 5
7-117199611-T-C c.1486T>C p.Trp496Arg Missense 11/27 - 1
7-117199611-TG-GT c.1486_1487delinsGT p.Trp496Val Missense 11/27 - 2
7-117199612-GG-TT c.1487_1488delinsTT p.Trp496Phe Missense 11/27 - 2
7-117199613-G-A c.1488G>A p.Trp496* Nonsense 11/27 - 4
7-117199612-G-A c.1487G>A p.Trp496* Nonsense 11/27 - 4
7-117199613-G-C c.1488G>C p.Trp496Cys Missense 11/27 - 2
7-117199613-G-T c.1488G>T p.Trp496Cys Missense 11/27 - 2
7-117199617-A-G c.1492A>G p.Met498Val Missense 11/27 - 1
7-117199617-ATG-TGT c.1492_1494delinsTGT p.Met498Cys Missense 11/27 - 2
7-117199620-C-T c.1495C>T p.Pro499Ser Missense 11/27 - 1
7-117199620-C-G c.1495C>G p.Pro499Ala Missense 11/27 - 1
7-117199626-A-G c.1501A>G p.Thr501Ala Missense 11/27 - 2
7-117199627-C-A c.1502C>A p.Thr501Asn Missense 11/27 - 1
7-117199630-T-C c.1505T>C p.Ile502Thr Missense 11/27 - 4
7-117199632-AA-GC c.1507_1508delinsGC p.Lys503Ala Missense 11/27 - 1
7-117199636-A-C c.1511A>C p.Glu504Ala Missense 11/27 - 1
7-117199638-A-C c.1513A>C p.Asn505His Missense 11/27 - 1
7-117199639-A-T c.1514A>T p.Asn505Ile Missense 11/27 - 1
7-117199641-A-G c.1516A>G p.Ile506Val Missense 11/27 - 18
7-117199642-T-C c.1517T>C p.Ile506Thr Missense 11/27 - 6
7-117199643-C-G c.1518C>G p.Ile506Met Missense 11/27 - 2
7-117199643-C-A c.1518C>A p.Ile506Ile Synonymous 11/27 - 1
7-117199644-A-G c.1519A>G p.Ile507Val Missense 11/27 - 15
7-117199644-CATCTTT-C c.1519_1524del p.Ile507_Phe508del InFrameDeletion 11/27 - 1
7-117199644-A-T c.1519A>T p.Ile507Phe Missense 11/27 - 1
7-117199644-CATC-C c.1519_1521del p.Ile507del InFrameDeletion 11/27 - 61
7-117199645-T-A c.1520T>A p.Ile507Asn Missense 11/27 - 1
7-117199646-TCTT-T c.1521_1523del p.Phe508del InFrameDeletion 11/27 - 125
7-117199646-C-T c.1521C>T p.Ile507Ile Synonymous 11/27 - 2
7-117199647-TT-CA c.1522_1523delinsCA p.Phe508His Missense 11/27 - 1
7-117199647-TT-CG c.1522_1523delinsCG p.Phe508Arg Missense 11/27 - 8
7-117199647-TT-AC c.1522_1523delinsAC p.Phe508Thr Missense 11/27 - 1
7-117199649-T-G c.1524T>G p.Phe508Leu Missense 11/27 - 2
7-117199649-T-A c.1524T>A p.Phe508Leu Missense 11/27 - 2
7-117199647-TT-AA c.1522_1523inv p.Phe508Asn Missense 11/27 - 2
7-117199647-T-C c.1522T>C p.Phe508Leu Missense 11/27 - 2
7-117199647-T-A c.1522T>A p.Phe508Ile Missense 11/27 - 1
7-117199647-T-G c.1522T>G p.Phe508Val Missense 11/27 - 1
7-117199647-TTT-ATG c.1522_1524delinsATG p.Phe508Met Missense 11/27 - 1
7-117199647-TTT-AAG c.1522_1524delinsAAG p.Phe508Lys Missense 11/27 - 3
7-117199647-TTT-CAA c.1522_1524delinsCAA p.Phe508Gln Missense 11/27 - 1
7-117199647-TT-GC c.1522_1523delinsGC p.Phe508Ala Missense 11/27 - 9
7-117199647-TT-GA c.1522_1523delinsGA p.Phe508Asp Missense 11/27 - 5
7-117199647-TTT-GAG c.1522_1524delinsGAG p.Phe508Glu Missense 11/27 - 2
7-117199647-CTTT-C c.1522_1524del p.Phe508del InFrameDeletion 11/27 - 1327
7-117199647-TT-CC c.1522_1523delinsCC p.Phe508Pro Missense 11/27 - 2
7-117199647-TT-GG c.1522_1523delinsGG p.Phe508Gly Missense 11/27 - 4
7-117199648-TT-GG c.1523_1524delinsGG p.Phe508Trp Missense 11/27 - 2
7-117199648-TT-AA c.1523_1524inv p.Phe508* Nonsense 11/27 - 4
7-117199648-T-G c.1523T>G p.Phe508Cys Missense 11/27 - 44
7-117199648-T-C c.1523T>C p.Phe508Ser Missense 11/27 - 8
7-117199648-T-A c.1523T>A p.Phe508Tyr Missense 11/27 - 1
7-117199649-T-C c.1524T>C p.Phe508Phe Synonymous 11/27 - 2
7-117199650-G-C c.1525G>C p.Gly509Arg Missense 11/27 - 1
7-117199651-G-A c.1526G>A p.Gly509Asp Missense 11/27 - 1
7-117199653-GTT-ATG c.1528_1530delinsATG p.Val510Met Missense 11/27 - 1
7-117199653-GT-CG c.1528_1529delinsCG p.Val510Arg Missense 11/27 - 2
7-117199653-TG-T c.1528del p.Val510Phefs*17 Frameshift 11/27 - 1
7-117199653-GT-TG c.1528_1529delinsTG p.Val510Cys Missense 11/27 - 9
7-117199654-TT-AG c.1529_1530delinsAG p.Val510Glu Missense 11/27 - 1
7-117199654-T-C c.1529T>C p.Val510Ala Missense 11/27 - 17
7-117199654-T-A c.1529T>A p.Val510Asp Missense 11/27 - 25
7-117199656-T-G c.1531T>G p.Ser511Ala Missense 11/27 - 3
7-117199656-TC-GA c.1531_1532inv p.Ser511Asp Missense 11/27 - 3
7-117199659-TAT-GAG c.1534_1536delinsGAG p.Tyr512Glu Missense 11/27 - 2
7-117199659-TA-GC c.1534_1535delinsGC p.Tyr512Ala Missense 11/27 - 1
7-117199659-T-G c.1534T>G p.Tyr512Asp Missense 11/27 - 1
7-117199660-A-T c.1535A>T p.Tyr512Phe Missense 11/27 - 2
7-117199663-A-G c.1538A>G p.Asp513Gly Missense 11/27 - 2
7-117199665-G-A c.1540G>A p.Glu514Lys Missense 11/27 - 1
7-117199670-ATA-A c.1545_1546del p.Tyr515* Frameshift 11/27 - 11
7-117199670-T-G c.1545T>G p.Tyr515* Nonsense 11/27 - 1
7-117199670-T-A c.1545T>A p.Tyr515* Nonsense 11/27 - 1
7-117199671-A-G c.1546A>G p.Arg516Gly Missense 11/27 - 3
7-117199672-G-A c.1547G>A p.Arg516Lys Missense 11/27 - 7
7-117199674-TA-AT c.1549_1550delinsAT p.Tyr517Ile Missense 11/27 - 2
7-117199675-A-G c.1550A>G p.Tyr517Cys Missense 11/27 - 1
7-117199683-G-T c.1558G>T p.Val520Phe Missense 11/27 - 38
7-117199683-G-A c.1558G>A p.Val520Ile Missense 11/27 - 5
7-117199686-A-T c.1561A>T p.Ile521Phe Missense 11/27 - 1
7-117199696-G-C c.1571G>C p.Cys524Ser Missense 11/27 - 4
7-117199695-TG-AC c.1570_1571delinsAC p.Cys524Thr Missense 11/27 - 1
7-117199695-TG-GC c.1570_1571delinsGC p.Cys524Ala Missense 11/27 - 2
7-117199695-T-A c.1570T>A p.Cys524Ser Missense 11/27 - 4
7-117199697-C-A c.1572C>A p.Cys524* Nonsense 11/27 - 8
7-117199698-C-T c.1573C>T p.Gln525* Nonsense 11/27 - 3
7-117199701-CT-GC c.1576_1577delinsGC p.Leu526Ala Missense 11/27 - 2
7-117199704-G-C c.1579G>C p.Glu527Gln Missense 11/27 - 1
7-117199704-GAA-AAC c.1579_1581delinsAAC p.Glu527Asn Missense 11/27 - 1
7-117199706-A-AA c.1581dup p.Glu528Argfs*40 Frameshift 11/27 - 1
7-117199707-G-A c.1582G>A p.Glu528Lys Missense 11/27 - 1
7-117199707-G-C c.1582G>C p.Glu528Gln Missense 11/27 - 1
7-117199709-G-T c.1584G>T p.Glu528Asp Missense 11/27 - 2
7-117199709-G-C c.1584G>C p.Glu528Asp Missense 11/27 - 1
7-117199709-G-A c.1584G>A p.Glu528Glu Synonymous 11/27 - 13
7-117199710-G-A c.1584+1G>A - IntronicSNV - 11/26 1
7-117200398-G-A c.1584+689G>A - IntronicSNV - 11/26 1
7-117200481-G-C c.1584+772G>C - IntronicSNV - 11/26 1
7-117200899-C-T c.1584+1190C>T - IntronicSNV - 11/26 2
7-117203417-A-G c.1584+3708A>G - IntronicSNV - 11/26 6
7-117204462-A-G c.1584+4753A>G - IntronicSNV - 11/26 1
7-117206883-A-G c.1584+7174A>G - IntronicSNV - 11/26 1
7-117207864-C-T c.1584+8155C>T - IntronicSNV - 11/26 1
7-117214089-T-C c.1585-13704T>C - IntronicSNV - 11/26 1
7-117214471-T-G c.1585-13322T>G - IntronicSNV - 11/26 1
7-117218381-A-G c.1585-9412A>G - IntronicSNV - 11/26 2
7-117219835-C-A c.1585-7958C>A - IntronicSNV - 11/26 1
7-117219835-C-T c.1585-7958C>T - IntronicSNV - 11/26 1
7-117226904-G-A c.1585-889G>A - IntronicSNV - 11/26 1
7-117227613-A-G c.1585-180A>G - IntronicSNV - 11/26 1
7-117227784-T-A c.1585-9T>A - IntronicSNV - 11/26 1
7-117227784-T-C c.1585-9T>C - IntronicSNV - 11/26 1
7-117227785-G-T c.1585-8G>T - IntronicSNV - 11/26 1
7-117227785-G-A c.1585-8G>A - IntronicSNV - 11/26 4
7-117227792-G-A c.1585-1G>A - IntronicSNV - 11/26 26
7-117227793-GA-TT c.1585_1586delinsTT p.Asp529Phe Missense 12/27 - 2
7-117227793-G-A c.1585G>A p.Asp529Asn Missense 12/27 - 1
7-117227796-A-C c.1588A>C p.Ile530Leu Missense 12/27 - 1
7-117227797-T-C c.1589T>C p.Ile530Thr Missense 12/27 - 1
7-117227799-T-A c.1591T>A p.Ser531Thr Missense 12/27 - 1
7-117227802-A-G c.1594A>G p.Lys532Glu Missense 12/27 - 1
7-117227802-AAG-TAT c.1594_1596delinsTAT p.Lys532Tyr Missense 12/27 - 1
7-117227805-T-C c.1597T>C p.Phe533Leu Missense 12/27 - 2
7-117227808-GC-CA c.1600_1601delinsCA p.Ala534Gln Missense 12/27 - 1
7-117227808-G-C c.1600G>C p.Ala534Pro Missense 12/27 - 10
7-117227812-A-C c.1604A>C p.Glu535Ala Missense 12/27 - 2
7-117227813-G-T c.1605G>T p.Glu535Asp Missense 12/27 - 1
7-117227813-G-C c.1605G>C p.Glu535Asp Missense 12/27 - 1
7-117227814-A-C c.1606A>C p.Lys536Gln Missense 12/27 - 1
7-117227814-A-T c.1606A>T p.Lys536* Nonsense 12/27 - 3
7-117227814-A-G c.1606A>G p.Lys536Glu Missense 12/27 - 1
7-117227816-AA-A c.1608del p.Asp537Thrfs*3 Frameshift 12/27 - 1
7-117227817-GA-TT c.1609_1610delinsTT p.Asp537Phe Missense 12/27 - 2
7-117227817-G-A c.1609G>A p.Asp537Asn Missense 12/27 - 1
7-117227819-C-A c.1611C>A p.Asp537Glu Missense 12/27 - 1
7-117227819-C-G c.1611C>G p.Asp537Glu Missense 12/27 - 1
7-117227824-T-C c.1616T>C p.Ile539Thr Missense 12/27 - 40
7-117227829-CT-GC c.1621_1622delinsGC p.Leu541Ala Missense 12/27 - 1
7-117227832-G-A c.1624G>A p.Gly542Arg Missense 12/27 - 3
7-117227832-GGA-TGT c.1624_1626delinsTGT p.Gly542Cys Missense 12/27 - 3
7-117227832-GGA-TGG c.1624_1626delinsTGG p.Gly542Trp Missense 12/27 - 3
7-117227832-G-T c.1624G>T p.Gly542* Nonsense 12/27 - 392
7-117227833-G-C c.1625G>C p.Gly542Ala Missense 12/27 - 1
7-117227835-GAA-TGT c.1627_1629delinsTGT p.Glu543Cys Missense 12/27 - 1
7-117227836-A-C c.1628A>C p.Glu543Ala Missense 12/27 - 1
7-117227839-G-T c.1631G>T p.Gly544Val Missense 12/27 - 1
7-117227841-G-A c.1633G>A p.Gly545Arg Missense 12/27 - 2
7-117227847-ACA-TGT c.1639_1641inv p.Thr547Cys Missense 12/27 - 1
7-117227849-A-T c.1641A>T p.Thr547Thr Synonymous 12/27 - 2
7-117227850-CTG-TGT c.1642_1644delinsTGT p.Leu548Cys Missense 12/27 - 1
7-117227853-A-T c.1645A>T p.Ser549Cys Missense 12/27 - 5
7-117227853-AG-TT c.1645_1646delinsTT p.Ser549Phe Missense 12/27 - 1
7-117227854-G-A c.1646G>A p.Ser549Asn Missense 12/27 - 113
7-117227854-G-T c.1646G>T p.Ser549Ile Missense 12/27 - 6
7-117227854-G-C c.1646G>C p.Ser549Thr Missense 12/27 - 1
7-117227853-A-C c.1645A>C p.Ser549Arg Missense 12/27 - 106
7-117227855-T-A c.1647T>A p.Ser549Arg Missense 12/27 - 101
7-117227855-T-C c.1647T>C p.Ser549Ser Synonymous 12/27 - 2
7-117227855-T-G c.1647T>G p.Ser549Arg Missense 12/27 - 113
7-117227856-G-A c.1648G>A p.Gly550Arg Missense 12/27 - 3
7-117227856-G-C c.1648G>C p.Gly550Arg Missense 12/27 - 3
7-117227857-G-A c.1649G>A p.Gly550Glu Missense 12/27 - 43
7-117227859-G-T c.1651G>T p.Gly551Cys Missense 12/27 - 2
7-117227859-G-A c.1651G>A p.Gly551Ser Missense 12/27 - 68
7-117227859-GGT-AAG c.1651_1653delinsAAG p.Gly551Lys Missense 12/27 - 3
7-117227859-G-C c.1651G>C p.Gly551Arg Missense 12/27 - 1
7-117227860-G-C c.1652G>C p.Gly551Ala Missense 12/27 - 2
7-117227860-G-A c.1652G>A p.Gly551Asp Missense 12/27 - 877
7-117227860-GG-G c.1652del p.Gly551Valfs*8 Frameshift 12/27 - 2
7-117227860-GGTC-G c.1652_1654del p.Gly551_Gln552delinsGlu MultiAAMissense 12/27 - 1
7-117227860-GT-AG c.1652_1653delinsAG p.Gly551Glu Missense 12/27 - 5
7-117227861-T-G c.1653T>G p.Gly551Gly Synonymous 12/27 - 1
7-117227861-T-A c.1653T>A p.Gly551Gly Synonymous 12/27 - 1
7-117227861-T-C c.1653T>C p.Gly551Gly Synonymous 12/27 - 1
7-117227862-C-T c.1654C>T p.Gln552* Nonsense 12/27 - 21
7-117227862-CA-GC c.1654_1655delinsGC p.Gln552Ala Missense 12/27 - 1
7-117227862-CAA-TGT c.1654_1656delinsTGT p.Gln552Cys Missense 12/27 - 1
7-117227864-A-T c.1656A>T p.Gln552His Missense 12/27 - 1
7-117227864-A-C c.1656A>C p.Gln552His Missense 12/27 - 1
7-117227865-CGA-ATG c.1657_1659delinsATG p.Arg553Met Missense 12/27 - 20
7-117227865-CG-AA c.1657_1658delinsAA p.Arg553Lys Missense 12/27 - 4
7-117227865-CGA-TGG c.1657_1659delinsTGG p.Arg553Trp Missense 12/27 - 1
7-117227865-CGA-TGT c.1657_1659delinsTGT p.Arg553Cys Missense 12/27 - 1
7-117227865-C-G c.1657C>G p.Arg553Gly Missense 12/27 - 2
7-117227865-C-T c.1657C>T p.Arg553* Nonsense 12/27 - 185
7-117227866-G-A c.1658G>A p.Arg553Gln Missense 12/27 - 25
7-117227871-AG-CA c.1663_1664delinsCA p.Arg555Gln Missense 12/27 - 1
7-117227871-A-G c.1663A>G p.Arg555Gly Missense 12/27 - 1
7-117227871-AG-GC c.1663_1664delinsGC p.Arg555Ala Missense 12/27 - 1
7-117227872-G-C c.1664G>C p.Arg555Thr Missense 12/27 - 1
7-117227872-G-A c.1664G>A p.Arg555Lys Missense 12/27 - 51
7-117227874-A-G c.1666A>G p.Ile556Val Missense 12/27 - 15
7-117227878-C-T c.1670C>T p.Ser557Phe Missense 12/27 - 1
7-117227881-T-C c.1673T>C p.Leu558Ser Missense 12/27 - 10
7-117227883-G-A c.1675G>A p.Ala559Thr Missense 12/27 - 28
7-117227884-C-A c.1676C>A p.Ala559Glu Missense 12/27 - 1
7-117227886-AA-A c.1678del p.Arg560Glufs*12 Frameshift 12/27 - 1
7-117227886-A-G c.1678A>G p.Arg560Gly Missense 12/27 - 2
7-117227887-G-C c.1679G>C p.Arg560Thr Missense 12/27 - 82
7-117227887-G-A c.1679G>A p.Arg560Lys Missense 12/27 - 7
7-117227889-T-C c.1679+2T>C - IntronicSNV - 12/26 2
7-117228453-G-T c.1679+566G>T - IntronicSNV - 12/26 1
7-117229167-G-A c.1680-1240G>A - IntronicSNV - 12/26 1
7-117229336-A-G c.1680-1071A>G - IntronicSNV - 12/26 1
7-117229426-T-C c.1680-981T>C - IntronicSNV - 12/26 1
7-117229521-A-G c.1680-886A>G - IntronicSNV - 12/26 11
7-117229524-A-G c.1680-883A>G - IntronicSNV - 12/26 1
7-117229530-G-T c.1680-877G>T - IntronicSNV - 12/26 5
7-117229530-G-A c.1680-877G>A - IntronicSNV - 12/26 1
7-117229536-A-G c.1680-871A>G - IntronicSNV - 12/26 1
7-117229537-T-A c.1680-870T>A - IntronicSNV - 12/26 1
7-117229993-C-T c.1680-414C>T - IntronicSNV - 12/26 2
7-117230283-T-C c.1680-124T>C - IntronicSNV - 12/26 3
7-117230406-G-C c.1680-1G>C - IntronicSNV - 12/26 1
7-117230406-G-A c.1680-1G>A - IntronicSNV - 12/26 7
7-117230407-A-T c.1680A>T p.Arg560Ser Missense 13/27 - 8
7-117230407-A-C c.1680A>C p.Arg560Ser Missense 13/27 - 8
7-117230407-A-AA c.1680dup p.Ala561Serfs*7 SpliceAcceptorInsertion 13/27 - 1
7-117230408-AGC-A c.1681_1682del p.Ala561Serfs*6 SpliceAcceptorDeletion 13/27 - 1
7-117230408-G-A c.1681G>A p.Ala561Thr Missense 13/27 - 1
7-117230409-C-A c.1682C>A p.Ala561Glu Missense 13/27 - 27
7-117230411-G-C c.1684G>C p.Val562Leu Missense 13/27 - 1
7-117230411-G-A c.1684G>A p.Val562Ile Missense 13/27 - 17
7-117230414-T-A c.1687T>A p.Tyr563Asn Missense 13/27 - 8
7-117230414-T-G c.1687T>G p.Tyr563Asp Missense 13/27 - 2
7-117230414-TA-GT c.1687_1688delinsGT p.Tyr563Val Missense 13/27 - 2
7-117230416-C-G c.1689C>G p.Tyr563* Nonsense 13/27 - 2
7-117230416-C-A c.1689C>A p.Tyr563* Nonsense 13/27 - 2
7-117230417-A-G c.1690A>G p.Lys564Glu Missense 13/27 - 1
7-117230417-AAA-TGT c.1690_1692delinsTGT p.Lys564Cys Missense 13/27 - 2
7-117230421-A-C c.1694A>C p.Asp565Ala Missense 13/27 - 3
7-117230421-A-G c.1694A>G p.Asp565Gly Missense 13/27 - 6
7-117230423-G-A c.1696G>A p.Ala566Thr Missense 13/27 - 2
7-117230423-G-C c.1696G>C p.Ala566Pro Missense 13/27 - 2
7-117230424-C-A c.1697C>A p.Ala566Asp Missense 13/27 - 1
7-117230426-G-T c.1699G>T p.Asp567Tyr Missense 13/27 - 2
7-117230427-A-C c.1700A>C p.Asp567Ala Missense 13/27 - 5
7-117230429-TT-GC c.1702_1703delinsGC p.Leu568Ala Missense 13/27 - 1
7-117230431-G-T c.1704G>T p.Leu568Phe Missense 13/27 - 1
7-117230431-G-C c.1704G>C p.Leu568Phe Missense 13/27 - 1
7-117230432-T-G c.1705T>G p.Tyr569Asp Missense 13/27 - 10
7-117230432-T-C c.1705T>C p.Tyr569His Missense 13/27 - 2
7-117230433-A-G c.1706A>G p.Tyr569Cys Missense 13/27 - 1
7-117230435-TTA-GAC c.1708_1710delinsGAC p.Leu570Asp Missense 13/27 - 1
7-117230439-T-C c.1712T>C p.Leu571Ser Missense 13/27 - 2
7-117230441-G-A c.1714G>A p.Asp572Asn Missense 13/27 - 12
7-117230441-G-C c.1714G>C p.Asp572His Missense 13/27 - 1
7-117230443-C-G c.1716C>G p.Asp572Glu Missense 13/27 - 1
7-117230443-C-A c.1716C>A p.Asp572Glu Missense 13/27 - 1
7-117230444-TCT-GAG c.1717_1719delinsGAG p.Ser573Glu Missense 13/27 - 4
7-117230444-T-G c.1717T>G p.Ser573Ala Missense 13/27 - 1
7-117230445-C-G c.1718C>G p.Ser573Cys Missense 13/27 - 1
7-117230447-C-G c.1720C>G p.Pro574Ala Missense 13/27 - 2
7-117230447-C-T c.1720C>T p.Pro574Ser Missense 13/27 - 2
7-117230448-C-A c.1721C>A p.Pro574His Missense 13/27 - 18
7-117230450-TT-AC c.1723_1724delinsAC p.Phe575Thr Missense 13/27 - 2
7-117230451-T-A c.1724T>A p.Phe575Tyr Missense 13/27 - 1
7-117230454-G-C c.1727G>C p.Gly576Ala Missense 13/27 - 47
7-117230454-G-A c.1727G>A p.Gly576Glu Missense 13/27 - 1
7-117230456-TAC-AAG c.1729_1731delinsAAG p.Tyr577Lys Missense 13/27 - 1
7-117230456-TAC-GAG c.1729_1731delinsGAG p.Tyr577Glu Missense 13/27 - 1
7-117230458-C-T c.1731C>T p.Tyr577Tyr Synonymous 13/27 - 3
7-117230460-CTA-C c.1733_1734del p.Leu578Argfs*10 Frameshift 13/27 - 3
7-117230461-A-G c.1734A>G p.Leu578Leu Synonymous 13/27 - 1
7-117230462-G-T c.1735G>T p.Asp579Tyr Missense 13/27 - 2
7-117230463-A-G c.1736A>G p.Asp579Gly Missense 13/27 - 26
7-117230470-A-C c.1743A>C p.Leu581Phe Missense 13/27 - 1
7-117230470-A-T c.1743A>T p.Leu581Phe Missense 13/27 - 1
7-117230471-A-G c.1744A>G p.Thr582Ala Missense 13/27 - 3
7-117230471-A-T c.1744A>T p.Thr582Ser Missense 13/27 - 1
7-117230472-C-G c.1745C>G p.Thr582Arg Missense 13/27 - 1
7-117230475-A-G c.1748A>G p.Glu583Gly Missense 13/27 - 2
7-117230477-A-G c.1750A>G p.Lys584Glu Missense 13/27 - 1
7-117230477-A-C c.1750A>C p.Lys584Gln Missense 13/27 - 1
7-117230480-G-T c.1753G>T p.Glu585* Nonsense 13/27 - 19
7-117230489-G-T c.1762G>T p.Glu588* Nonsense 13/27 - 1
7-117230489-G-A c.1762G>A p.Glu588Lys Missense 13/27 - 1
7-117230490-A-T c.1763A>T p.Glu588Val Missense 13/27 - 4
7-117230494-G-C c.1766+1G>C - IntronicSNV - 13/26 2
7-117230494-G-A c.1766+1G>A - IntronicSNV - 13/26 9
7-117230494-G-T c.1766+1G>T - IntronicSNV - 13/26 2
7-117230495-T-C c.1766+2T>C - IntronicSNV - 13/26 2
7-117230496-A-C c.1766+3A>C - IntronicSNV - 13/26 1
7-117230496-A-G c.1766+3A>G - IntronicSNV - 13/26 4
7-117230498-G-T c.1766+5G>T - IntronicSNV - 13/26 4
7-117230645-T-A c.1766+152T>A - IntronicSNV - 13/26 1
7-117231757-T-C c.1767-231T>C - IntronicSNV - 13/26 1
7-117231852-T-C c.1767-136T>C - IntronicSNV - 13/26 2
7-117231856-A-G c.1767-132A>G - IntronicSNV - 13/26 1
7-117231975-T-G c.1767-13T>G - IntronicSNV - 13/26 1
7-117231989-TG-GT c.1768_1769delinsGT p.Cys590Val Missense 14/27 - 3
7-117231989-TG-AC c.1768_1769delinsAC p.Cys590Thr Missense 14/27 - 1
7-117231989-T-A c.1768T>A p.Cys590Ser Missense 14/27 - 1
7-117231989-TG-CT c.1768_1769delinsCT p.Cys590Leu Missense 14/27 - 5
7-117231990-G-C c.1769G>C p.Cys590Ser Missense 14/27 - 1
7-117231989-TG-GC c.1768_1769delinsGC p.Cys590Ala Missense 14/27 - 1
7-117231990-G-T c.1769G>T p.Cys590Phe Missense 14/27 - 1
7-117231991-T-A c.1770T>A p.Cys590* Nonsense 14/27 - 1
7-117231995-TG-CT c.1774_1775delinsCT p.Cys592Leu Missense 14/27 - 3
7-117231995-TG-GT c.1774_1775delinsGT p.Cys592Val Missense 14/27 - 1
7-117231996-G-T c.1775G>T p.Cys592Phe Missense 14/27 - 1
7-117232003-G-A c.1782G>A p.Leu594Leu Synonymous 14/27 - 1
7-117232016-A-AA c.1795dup p.Thr599Asnfs*2 Frameshift 14/27 - 1
7-117232016-A-G c.1795A>G p.Thr599Ala Missense 14/27 - 2
7-117232019-A-G c.1798A>G p.Arg600Gly Missense 14/27 - 1
7-117232022-A-T c.1801A>T p.Ile601Phe Missense 14/27 - 1
7-117232022-AT-GA c.1801_1802delinsGA p.Ile601Asp Missense 14/27 - 1
7-117232028-G-A c.1807G>A p.Val603Ile Missense 14/27 - 1
7-117232031-A-G c.1810A>G p.Thr604Ala Missense 14/27 - 2
7-117232032-C-G c.1811C>G p.Thr604Ser Missense 14/27 - 1
7-117232031-A-T c.1810A>T p.Thr604Ser Missense 14/27 - 1
7-117232032-C-T c.1811C>T p.Thr604Ile Missense 14/27 - 1
7-117232035-C-T c.1814C>T p.Ser605Phe Missense 14/27 - 1
7-117232035-C-G c.1814C>G p.Ser605Cys Missense 14/27 - 2
7-117232040-AA-A c.1819del p.Met607Trpfs*4 Frameshift 14/27 - 1
7-117232041-ATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTT-A c.1821_1879del p.Met607Ilefs*15 InFrameDeletion 14/27 - 1
7-117232046-CAT-TAA c.1825_1827delinsTAA p.His609* Nonsense 14/27 - 1
7-117232046-CA-AC c.1825_1826delinsAC p.His609Thr Missense 14/27 - 2
7-117232047-A-T c.1826A>T p.His609Leu Missense 14/27 - 1
7-117232047-A-G c.1826A>G p.His609Arg Missense 14/27 - 6
7-117232050-T-C c.1829T>C p.Leu610Ser Missense 14/27 - 1
7-117232058-G-A c.1837G>A p.Ala613Thr Missense 14/27 - 3
7-117232062-A-G c.1841A>G p.Asp614Gly Missense 14/27 - 19
7-117232074-T-C c.1853T>C p.Ile618Thr Missense 14/27 - 10
7-117232080-A-C c.1859A>C p.His620Pro Missense 14/27 - 3
7-117232081-T-G c.1860T>G p.His620Gln Missense 14/27 - 7
7-117232081-T-A c.1860T>A p.His620Gln Missense 14/27 - 7
7-117232083-A-G c.1862A>G p.Glu621Gly Missense 14/27 - 1
7-117232086-G-A c.1865G>A p.Gly622Asp Missense 14/27 - 11
7-117232088-AG-GC c.1867_1868delinsGC p.Ser623Ala Missense 14/27 - 1
7-117232091-AG-GC c.1870_1871delinsGC p.Ser624Ala Missense 14/27 - 1
7-117232103-G-A c.1882G>A p.Gly628Arg Missense 14/27 - 5
7-117232103-G-C c.1882G>C p.Gly628Arg Missense 14/27 - 5
7-117232106-A-G c.1885A>G p.Thr629Ala Missense 14/27 - 1
7-117232112-T-G c.1891T>G p.Ser631Ala Missense 14/27 - 3
7-117232115-G-T c.1894G>T p.Glu632* Nonsense 14/27 - 1
7-117232118-C-A c.1897C>A p.Leu633Ile Missense 14/27 - 1
7-117232127-CT-GA c.1906_1907delinsGA p.Leu636Glu Missense 14/27 - 2
7-117232130-CA-GC c.1909_1910delinsGC p.Gln637Ala Missense 14/27 - 1
7-117232130-C-T c.1909C>T p.Gln637* Nonsense 14/27 - 1
7-117232131-A-G c.1910A>G p.Gln637Arg Missense 14/27 - 21
7-117232132-AG-A c.1911del p.Gln637Hisfs*26 Frameshift 14/27 - 7
7-117232142-AG-GC c.1921_1922delinsGC p.Ser641Ala Missense 14/27 - 4
7-117232144-C-A c.1923C>A p.Ser641Arg Missense 14/27 - 2
7-117232153-C-G c.1932C>G p.Leu644Leu Synonymous 14/27 - 1
7-117232153-C-A c.1932C>A p.Leu644Leu Synonymous 14/27 - 1
7-117232153-C-T c.1932C>T p.Leu644Leu Synonymous 14/27 - 1
7-117232157-G-T c.1936G>T p.Gly646* Nonsense 14/27 - 1
7-117232163-G-A c.1942G>A p.Asp648Asn Missense 14/27 - 1
7-117232164-A-T c.1943A>T p.Asp648Val Missense 14/27 - 6
7-117232172-GAC-TAA c.1951_1953delinsTAA p.Asp651* Nonsense 14/27 - 1
7-117232175-C-T c.1954C>T p.Gln652* Nonsense 14/27 - 1
7-117232181-A-G c.1960A>G p.Ser654Gly Missense 14/27 - 1
7-117232187-G-T c.1966G>T p.Glu656* Nonsense 14/27 - 1
7-117232197-AA-A c.1976del p.Asn659Ilefs*4 Frameshift 14/27 - 1
7-117232199-T-G c.1978T>G p.Ser660Ala Missense 14/27 - 13
7-117232199-T-A c.1978T>A p.Ser660Thr Missense 14/27 - 1
7-117232199-TC-GA c.1978_1979inv p.Ser660Glu Missense 14/27 - 1
7-117232203-T-C c.1982T>C p.Ile661Thr Missense 14/27 - 1
7-117232207-TAACT-T c.1986_1989del p.Thr663Argfs*8 Frameshift 14/27 - 1
7-117232208-A-G c.1987A>G p.Thr663Ala Missense 14/27 - 3
7-117232211-G-T c.1990G>T p.Glu664* Nonsense 14/27 - 2
7-117232214-A-G c.1993A>G p.Thr665Ala Missense 14/27 - 1
7-117232214-A-T c.1993A>T p.Thr665Ser Missense 14/27 - 3
7-117232217-TT-GC c.1996_1997delinsGC p.Leu666Ala Missense 14/27 - 1
7-117232218-T-G c.1997T>G p.Leu666* Nonsense 14/27 - 3
7-117232221-A-G c.2000A>G p.His667Arg Missense 14/27 - 6
7-117232223-C-T c.2002C>T p.Arg668Cys Missense 14/27 - 33
7-117232226-TT-GC c.2005_2006delinsGC p.Phe669Ala Missense 14/27 - 1
7-117232229-T-G c.2008T>G p.Ser670Ala Missense 14/27 - 2
7-117232233-TT-T c.2012del p.Leu671* Frameshift 14/27 - 11
7-117232236-GAAG-G c.2015_2017del p.Glu672del InFrameDeletion 14/27 - 1
7-117232238-G-T c.2017G>T p.Gly673* Nonsense 14/27 - 1
7-117232257-G-A c.2036G>A p.Trp679* Nonsense 14/27 - 3
7-117232258-G-A c.2037G>A p.Trp679* Nonsense 14/27 - 3
7-117232263-A-T c.2042A>T p.Glu681Val Missense 14/27 - 3
7-117232265-A-G c.2044A>G p.Thr682Ala Missense 14/27 - 3
7-117232271-AA-CT c.2050_2051delinsCT p.Lys684Leu Missense 14/27 - 1
7-117232271-A-G c.2050A>G p.Lys684Glu Missense 14/27 - 1
7-117232272-AAA-A c.2051_2052del p.Lys684Thrfs*4 Frameshift 14/27 - 1
7-117232272-A-G c.2051A>G p.Lys684Arg Missense 14/27 - 1
7-117232273-AA-A c.2052del p.Lys684Asnfs*38 Frameshift 14/27 - 16
7-117232273-A-AA c.2052dup p.Gln685Thrfs*4 Frameshift 14/27 - 17
7-117232274-C-T c.2053C>T p.Gln685* Nonsense 14/27 - 1
7-117232277-T-G c.2056T>G p.Ser686Ala Missense 14/27 - 5
7-117232277-TC-GA c.2056_2057inv p.Ser686Asp Missense 14/27 - 1
7-117232277-TCT-GAG c.2056_2058delinsGAG p.Ser686Glu Missense 14/27 - 1
7-117232278-C-A c.2057C>A p.Ser686Tyr Missense 14/27 - 1
7-117232289-A-G c.2068A>G p.Thr690Ala Missense 14/27 - 1
7-117232295-G-T c.2074G>T p.Glu692* Nonsense 14/27 - 1
7-117232298-T-C c.2077T>C p.Phe693Leu Missense 14/27 - 3
7-117232300-T-G c.2079T>G p.Phe693Leu Missense 14/27 - 3
7-117232300-T-A c.2079T>A p.Phe693Leu Missense 14/27 - 3
7-117232303-G-A c.2082G>A p.Gly694Gly Synonymous 14/27 - 1
7-117232304-G-GG c.2083dup p.Glu695Glyfs*35 Frameshift 14/27 - 5
7-117232308-A-G c.2087A>G p.Lys696Arg Missense 14/27 - 1
7-117232310-A-AA c.2089dup p.Arg697Lysfs*33 Frameshift 14/27 - 2
7-117232310-AG-GC c.2089_2090delinsGC p.Arg697Ala Missense 14/27 - 1
7-117232319-T-G c.2098T>G p.Ser700Ala Missense 14/27 - 1
7-117232319-TCT-GAG c.2098_2100delinsGAG p.Ser700Glu Missense 14/27 - 1
7-117232332-C-T c.2111C>T p.Pro704Leu Missense 14/27 - 1
7-117232340-T-G c.2119T>G p.Ser707Ala Missense 14/27 - 3
7-117232346-CGA-AAC c.2125_2127delinsAAC p.Arg709Asn Missense 14/27 - 2
7-117232346-C-T c.2125C>T p.Arg709* Nonsense 14/27 - 15
7-117232349-A-T c.2128A>T p.Lys710* Nonsense 14/27 - 17
7-117232350-A-G c.2129A>G p.Lys710Arg Missense 14/27 - 1
7-117232355-TCC-GAG c.2134_2136delinsGAG p.Ser712Glu Missense 14/27 - 1
7-117232355-T-G c.2134T>G p.Ser712Ala Missense 14/27 - 1
7-117232356-C-G c.2135C>G p.Ser712Cys Missense 14/27 - 1
7-117232367-A-G c.2146A>G p.Lys716Glu Missense 14/27 - 1
7-117232367-A-T c.2146A>T p.Lys716* Nonsense 14/27 - 1
7-117232368-A-G c.2147A>G p.Lys716Arg Missense 14/27 - 1
7-117232370-A-G c.2149A>G p.Thr717Ala Missense 14/27 - 1
7-117232374-C-G c.2153C>G p.Pro718Arg Missense 14/27 - 1
7-117232389-G-T c.2168G>T p.Gly723Val Missense 14/27 - 1
7-117232394-G-A c.2173G>A p.Glu725Lys Missense 14/27 - 2
7-117232396-A-AA c.2175dup p.Glu726Argfs*4 Frameshift 14/27 - 5
7-117232403-T-G c.2182T>G p.Ser728Ala Missense 14/27 - 1
7-117232405-T-TA c.2184_2185insA p.Asp729Argfs*2 Frameshift 14/27 - 1
7-117232407-A-C c.2186A>C p.Asp729Ala Missense 14/27 - 1
7-117232409-G-T c.2188G>T p.Glu730* Nonsense 14/27 - 1
7-117232413-C-T c.2192C>T p.Pro731Leu Missense 14/27 - 1
7-117232416-T-G c.2195T>G p.Leu732* Nonsense 14/27 - 6
7-117232425-G-A c.2204G>A p.Arg735Lys Missense 14/27 - 1
7-117232430-TC-GA c.2209_2210inv p.Ser737Asp Missense 14/27 - 2
7-117232430-TCC-GAG c.2209_2211delinsGAG p.Ser737Glu Missense 14/27 - 1
7-117232430-T-G c.2209T>G p.Ser737Ala Missense 14/27 - 6
7-117232431-C-T c.2210C>T p.Ser737Phe Missense 14/27 - 6
7-117232431-C-G c.2210C>G p.Ser737Cys Missense 14/27 - 1
7-117232436-AG-A c.2215del p.Val739Tyrfs*16 Frameshift 14/27 - 6
7-117232445-T-G c.2224T>G p.Ser742Ala Missense 14/27 - 1
7-117232445-TCT-GAG c.2224_2226delinsGAG p.Ser742Glu Missense 14/27 - 3
7-117232462-G-A c.2241G>A p.Ala747Ala Synonymous 14/27 - 1
7-117232466-C-T c.2245C>T p.Leu749Leu Synonymous 14/27 - 2
7-117232468-G-A c.2247G>A p.Leu749Leu Synonymous 14/27 - 1
7-117232468-G-C c.2247G>C p.Leu749Leu Synonymous 14/27 - 1
7-117232468-G-T c.2247G>T p.Leu749Leu Synonymous 14/27 - 1
7-117232470-C-T c.2249C>T p.Pro750Leu Missense 14/27 - 7
7-117232472-C-T c.2251C>T p.Arg751Cys Missense 14/27 - 1
7-117232473-G-C c.2252G>C p.Arg751Pro Missense 14/27 - 1
7-117232473-G-T c.2252G>T p.Arg751Leu Missense 14/27 - 1
7-117232475-A-G c.2254A>G p.Ile752Val Missense 14/27 - 1
7-117232478-AG-GC c.2257_2258delinsGC p.Ser753Ala Missense 14/27 - 2
7-117232480-C-A c.2259C>A p.Ser753Arg Missense 14/27 - 1
7-117232480-C-G c.2259C>G p.Ser753Arg Missense 14/27 - 1
7-117232478-A-C c.2257A>C p.Ser753Arg Missense 14/27 - 1
7-117232481-G-A c.2260G>A p.Val754Met Missense 14/27 - 16
7-117232482-GT-G c.2261del p.Val754Glyfs*17 Frameshift 14/27 - 1
7-117232500-C-T c.2279C>T p.Thr760Met Missense 14/27 - 1
7-117232502-CTT-TAA c.2281_2283delinsTAA p.Leu761* Nonsense 14/27 - 1
7-117232511-CG-GC c.2290_2291delinsGC p.Arg764Ala Missense 14/27 - 1
7-117232511-C-T c.2290C>T p.Arg764* Nonsense 14/27 - 12
7-117232517-AG-GC c.2296_2297delinsGC p.Arg766Ala Missense 14/27 - 1
7-117232518-G-A c.2297G>A p.Arg766Lys Missense 14/27 - 6
7-117232518-G-T c.2297G>T p.Arg766Met Missense 14/27 - 4
7-117232523-T-A c.2302T>A p.Ser768Thr Missense 14/27 - 1
7-117232523-T-G c.2302T>G p.Ser768Ala Missense 14/27 - 7
7-117232523-TC-GA c.2302_2303inv p.Ser768Asp Missense 14/27 - 5
7-117232523-TCT-GAG c.2302_2304delinsGAG p.Ser768Glu Missense 14/27 - 1
7-117232523-TC-CG c.2302_2303delinsCG p.Ser768Arg Missense 14/27 - 2
7-117232524-C-G c.2303C>G p.Ser768Cys Missense 14/27 - 2
7-117232526-GT-TG c.2305_2306delinsTG p.Val769Cys Missense 14/27 - 1
7-117232533-AA-A c.2312del p.Asn771Thrfs*2 Frameshift 14/27 - 1
7-117232544-CA-GC c.2323_2324delinsGC p.His775Ala Missense 14/27 - 1
7-117232544-CA-AC c.2323_2324delinsAC p.His775Thr Missense 14/27 - 1
7-117232544-CA-TG c.2323_2324inv p.His775Cys Missense 14/27 - 1
7-117232556-C-T c.2335C>T p.Gln779* Nonsense 14/27 - 2
7-117232570-T-TT c.2349dup p.His784Serfs*21 Frameshift 14/27 - 1
7-117232573-C-G c.2352C>G p.His784Gln Missense 14/27 - 1
7-117232573-C-A c.2352C>A p.His784Gln Missense 14/27 - 1
7-117232574-C-T c.2353C>T p.Arg785* Nonsense 14/27 - 9
7-117232580-A-G c.2359A>G p.Thr787Ala Missense 14/27 - 1
7-117232586-GCA-TGT c.2365_2367delinsTGT p.Ala789Cys Missense 14/27 - 1
7-117232589-T-G c.2368T>G p.Ser790Ala Missense 14/27 - 4
7-117232592-A-G c.2371A>G p.Thr791Ala Missense 14/27 - 2
7-117232594-A-G c.2373A>G p.Thr791Thr Synonymous 14/27 - 1
7-117232595-C-T c.2374C>T p.Arg792* Nonsense 14/27 - 6
7-117232595-C-G c.2374C>G p.Arg792Gly Missense 14/27 - 3
7-117232599-A-G c.2378A>G p.Lys793Arg Missense 14/27 - 1
7-117232600-A-G c.2379A>G p.Lys793Lys Synonymous 14/27 - 1
7-117232604-TC-GA c.2383_2384inv p.Ser795Glu Missense 14/27 - 1
7-117232613-C-T c.2392C>T p.Pro798Ser Missense 14/27 - 1
7-117232616-C-G c.2395C>G p.Gln799Glu Missense 14/27 - 1
7-117232620-C-G c.2399C>G p.Ala800Gly Missense 14/27 - 3
7-117232638-A-G c.2417A>G p.Asp806Gly Missense 14/27 - 1
7-117232642-A-G c.2421A>G p.Ile807Met Missense 14/27 - 11
7-117232644-A-G c.2423A>G p.Tyr808Cys Missense 14/27 - 1
7-117232644-AT-ATAT c.2423_2424dup p.Ser809Ilefs*13 Frameshift 14/27 - 1
7-117232646-T-G c.2425T>G p.Ser809Ala Missense 14/27 - 5
7-117232646-TC-AG c.2425_2426delinsAG p.Ser809Arg Missense 14/27 - 1
7-117232649-A-G c.2428A>G p.Arg810Gly Missense 14/27 - 4
7-117232654-G-T c.2433G>T p.Arg811Ser Missense 14/27 - 1
7-117232658-T-G c.2437T>G p.Ser813Ala Missense 14/27 - 1
7-117232658-TCT-GAG c.2437_2439delinsGAG p.Ser813Glu Missense 14/27 - 1
7-117232658-T-C c.2437T>C p.Ser813Pro Missense 14/27 - 3
7-117232661-C-T c.2440C>T p.Gln814* Nonsense 14/27 - 2
7-117232664-G-A c.2443G>A p.Glu815Lys Missense 14/27 - 1
7-117232664-G-T c.2443G>T p.Glu815* Nonsense 14/27 - 1
7-117232671-G-T c.2450G>T p.Gly817Val Missense 14/27 - 1
7-117232674-TT-T c.2453del p.Leu818Trpfs*3 Frameshift 14/27 - 2
7-117232676-G-T c.2455G>T p.Glu819* Nonsense 14/27 - 2
7-117232685-G-T c.2464G>T p.Glu822* Nonsense 14/27 - 10
7-117232685-G-A c.2464G>A p.Glu822Lys Missense 14/27 - 2
7-117232686-A-C c.2465A>C p.Glu822Ala Missense 14/27 - 1
7-117232697-G-A c.2476G>A p.Glu826Lys Missense 14/27 - 2
7-117232698-A-C c.2477A>C p.Glu826Ala Missense 14/27 - 1
7-117232704-A-G c.2483A>G p.Asp828Gly Missense 14/27 - 1
7-117232704-A-C c.2483A>C p.Asp828Ala Missense 14/27 - 1
7-117232711-G-GT c.2490_2490+1insT p.Glu831* SpliceDonorInsertion - - 1
7-117232712-G-A c.2490+1G>A - IntronicSNV - 14/26 1
7-117232713-T-C c.2490+2T>C - IntronicSNV - 14/26 2
7-117232715-AGGTA-A c.2490+4_2490+7del - IntronicDeletion - 14/26 1
7-117234398-T-A c.2491-586T>A - IntronicSNV - 14/26 1
7-117234858-T-C c.2491-126T>C - IntronicSNV - 14/26 2
7-117234984-GGAG-G c.2491_2493del p.Glu831del InFrameDeletion 15/27 - 1
7-117234984-G-T c.2491G>T p.Glu831* Nonsense 15/27 - 24
7-117234985-A-C c.2492A>C p.Glu831Ala Missense 15/27 - 1
7-117234987-TG-GC c.2494_2495delinsGC p.Cys832Ala Missense 15/27 - 3
7-117234988-G-C c.2495G>C p.Cys832Ser Missense 15/27 - 4
7-117234987-T-A c.2494T>A p.Cys832Ser Missense 15/27 - 4
7-117234992-T-A c.2499T>A p.Phe833Leu Missense 15/27 - 3
7-117234992-T-G c.2499T>G p.Phe833Leu Missense 15/27 - 3
7-117234990-T-C c.2497T>C p.Phe833Leu Missense 15/27 - 3
7-117234996-GA-CG c.2503_2504delinsCG p.Asp835Arg Missense 15/27 - 1
7-117234997-A-C c.2504A>C p.Asp835Ala Missense 15/27 - 2
7-117234999-G-T c.2506G>T p.Asp836Tyr Missense 15/27 - 5
7-117234999-GA-TG c.2506_2507delinsTG p.Asp836Cys Missense 15/27 - 1
7-117234999-GA-CG c.2506_2507delinsCG p.Asp836Arg Missense 15/27 - 1
7-117234999-GAT-TAA c.2506_2508delinsTAA p.Asp836* Nonsense 15/27 - 2
7-117235000-A-C c.2507A>C p.Asp836Ala Missense 15/27 - 2
7-117235003-T-C c.2510T>C p.Met837Thr Missense 15/27 - 1
7-117235005-GA-AG c.2512_2513delinsAG p.Glu838Arg Missense 15/27 - 1
7-117235006-A-C c.2513A>C p.Glu838Ala Missense 15/27 - 1
7-117235015-C-G c.2522C>G p.Pro841Arg Missense 15/27 - 1
7-117235030-G-A c.2537G>A p.Trp846* Nonsense 15/27 - 7
7-117235031-G-A c.2538G>A p.Trp846* Nonsense 15/27 - 6
7-117235032-AA-GC c.2539_2540delinsGC p.Asn847Ala Missense 15/27 - 1
7-117235033-A-G c.2540A>G p.Asn847Ser Missense 15/27 - 1
7-117235040-C-A c.2547C>A p.Tyr849* Nonsense 15/27 - 8
7-117235044-C-T c.2551C>T p.Arg851* Nonsense 15/27 - 6
7-117235045-G-A c.2552G>A p.Arg851Gln Missense 15/27 - 1
7-117235047-T-TT c.2554dup p.Tyr852Leufs*44 Frameshift 15/27 - 1
7-117235048-A-T c.2555A>T p.Tyr852Phe Missense 15/27 - 1
7-117235050-A-T c.2557A>T p.Ile853Phe Missense 15/27 - 1
7-117235052-T-A c.2559T>A p.Ile853Ile Synonymous 15/27 - 1
7-117235052-T-C c.2559T>C p.Ile853Ile Synonymous 15/27 - 1
7-117235053-A-G c.2560A>G p.Thr854Ala Missense 15/27 - 1
7-117235055-T-G c.2562T>G p.Thr854Thr Synonymous 15/27 - 24
7-117235055-T-A c.2562T>A p.Thr854Thr Synonymous 15/27 - 19
7-117235056-G-A c.2563G>A p.Val855Ile Missense 15/27 - 1
7-117235076-TT-T c.2583del p.Phe861Leufs*3 Frameshift 15/27 - 2
7-117235077-GTG-TGT c.2584_2586delinsTGT p.Val862Cys Missense 15/27 - 1
7-117235082-TAATTTGGTGCT-T c.2589_2599del p.Ile864Serfs*28 Frameshift 15/27 - 2
7-117235085-TTT-T c.2592_2593del p.Ile864Metfs*31 Frameshift 15/27 - 1
7-117235089-T-A c.2596T>A p.Cys866Ser Missense 15/27 - 3
7-117235090-G-C c.2597G>C p.Cys866Ser Missense 15/27 - 3
7-117235097-A-G c.2604A>G p.Val868Val Synonymous 15/27 - 1
7-117235108-C-T c.2615C>T p.Ala872Val Missense 15/27 - 1
7-117235110-G-T c.2617G>T p.Glu873* Nonsense 15/27 - 1
7-117235112-G-C c.2619G>C p.Glu873Asp Missense 15/27 - 1
7-117235114-T-TT c.2619+2dup - IntronicInsertion - 15/26 1
7-117238379-T-G c.2619+3267T>G - IntronicSNV - 15/26 2
7-117238445-T-G c.2619+3333T>G - IntronicSNV - 15/26 1
7-117238453-A-C c.2619+3341A>C - IntronicSNV - 15/26 1
7-117238790-C-T c.2619+3678C>T - IntronicSNV - 15/26 1
7-117240668-A-T c.2620-2212A>T - IntronicSNV - 15/26 1
7-117241031-C-A c.2620-1849C>A - IntronicSNV - 15/26 1
7-117241031-C-G c.2620-1849C>G - IntronicSNV - 15/26 1
7-117241031-C-T c.2620-1849C>T - IntronicSNV - 15/26 1
7-117242854-A-G c.2620-26A>G - IntronicSNV - 15/26 2
7-117242865-C-G c.2620-15C>G - IntronicSNV - 15/26 2
7-117242874-T-C c.2620-6T>C - IntronicSNV - 15/26 1
7-117242890-C-G c.2630C>G p.Ser877Cys Missense 16/27 - 1
7-117242897-TTGTGCTGT-T c.2637_2644del p.Val880Alafs*13 Frameshift 16/27 - 1
7-117242906-G-A c.2646G>A p.Trp882* Nonsense 16/27 - 2
7-117242905-G-A c.2645G>A p.Trp882* Nonsense 16/27 - 2
7-117242920-TG-T c.2657+3del - IntronicDeletion - 16/26 1
7-117242920-G-A c.2657+3G>A - IntronicSNV - 16/26 1
7-117242922-G-A c.2657+5G>A - IntronicSNV - 16/26 32
7-117243584-A-G c.2658-2A>G - IntronicSNV - 16/26 2
7-117243585-G-C c.2658-1G>C - IntronicSNV - 16/26 3
7-117243587-A-C c.2659A>C p.Thr887Pro Missense 17/27 - 1
7-117243596-C-T c.2668C>T p.Gln890* Nonsense 17/27 - 11
7-117243599-GA-TG c.2671_2672delinsTG p.Asp891Cys Missense 17/27 - 1
7-117243600-GA-G c.2672del p.Asp891Alafs*15 Frameshift 17/27 - 1
7-117243602-A-G c.2674A>G p.Lys892Glu Missense 17/27 - 1
7-117243602-A-C c.2674A>C p.Lys892Gln Missense 17/27 - 2
7-117243602-AAA-TGT c.2674_2676delinsTGT p.Lys892Cys Missense 17/27 - 2
7-117243607-G-T c.2679G>T p.Gly893Gly Synonymous 17/27 - 2
7-117243608-A-G c.2680A>G p.Asn894Asp Missense 17/27 - 6
7-117243608-AA-GC c.2680_2681delinsGC p.Asn894Ala Missense 17/27 - 2
7-117243608-AAT-CAA c.2680_2682delinsCAA p.Asn894Gln Missense 17/27 - 1
7-117243612-G-A c.2684G>A p.Ser895Asn Missense 17/27 - 9
7-117243612-G-C c.2684G>C p.Ser895Thr Missense 17/27 - 1
7-117243615-C-T c.2687C>T p.Thr896Ile Missense 17/27 - 1
7-117243622-T-G c.2694T>G p.Ser898Arg Missense 17/27 - 2
7-117243623-AGA-TGT c.2695_2697delinsTGT p.Arg899Cys Missense 17/27 - 1
7-117243623-AG-GA c.2695_2696delinsGA p.Arg899Glu Missense 17/27 - 1
7-117243623-AG-CA c.2695_2696delinsCA p.Arg899Gln Missense 17/27 - 2
7-117243624-G-A c.2696G>A p.Arg899Lys Missense 17/27 - 1
7-117243626-AAT-CAA c.2698_2700delinsCAA p.Asn900Gln Missense 17/27 - 1
7-117243626-A-G c.2698A>G p.Asn900Asp Missense 17/27 - 5
7-117243626-AA-GC c.2698_2699delinsGC p.Asn900Ala Missense 17/27 - 2
7-117243628-T-A c.2700T>A p.Asn900Lys Missense 17/27 - 1
7-117243635-T-C c.2707T>C p.Tyr903His Missense 17/27 - 1
7-117243636-A-T c.2708A>T p.Tyr903Phe Missense 17/27 - 1
7-117243650-A-T c.2722A>T p.Thr908Ser Missense 17/27 - 1
7-117243651-C-G c.2723C>G p.Thr908Ser Missense 17/27 - 1
7-117243651-C-A c.2723C>A p.Thr908Asn Missense 17/27 - 2
7-117243652-CC-C c.2724del p.Ser909Alafs*14 Frameshift 17/27 - 1
7-117243653-A-T c.2725A>T p.Ser909Cys Missense 17/27 - 1
7-117243654-G-T c.2726G>T p.Ser909Ile Missense 17/27 - 1
7-117243663-C-G c.2735C>G p.Ser912Trp Missense 17/27 - 1
7-117243663-C-A c.2735C>A p.Ser912* Nonsense 17/27 - 7
7-117243663-C-T c.2735C>T p.Ser912Leu Missense 17/27 - 7
7-117243665-T-TG c.2737_2738insG p.Tyr913* Nonsense 17/27 - 2
7-117243666-A-G c.2738A>G p.Tyr913Cys Missense 17/27 - 2
7-117243667-T-A c.2739T>A p.Tyr913* Nonsense 17/27 - 4
7-117243667-T-G c.2739T>G p.Tyr913* Nonsense 17/27 - 4
7-117243671-G-C c.2743G>C p.Val915Leu Missense 17/27 - 1
7-117243677-T-G c.2749T>G p.Tyr917Asp Missense 17/27 - 1
7-117243678-A-G c.2750A>G p.Tyr917Cys Missense 17/27 - 1
7-117243684-A-G c.2756A>G p.Tyr919Cys Missense 17/27 - 1
7-117243686-G-T c.2758G>T p.Val920Leu Missense 17/27 - 1
7-117243686-G-A c.2758G>A p.Val920Met Missense 17/27 - 2
7-117243694-TA-T c.2766del p.Ala923Profs*19 Frameshift 17/27 - 1
7-117243696-C-A c.2768C>A p.Ala923Asp Missense 17/27 - 1
7-117243698-GA-CG c.2770_2771delinsCG p.Asp924Arg Missense 17/27 - 4
7-117243698-G-A c.2770G>A p.Asp924Asn Missense 17/27 - 4
7-117243699-A-T c.2771A>T p.Asp924Val Missense 17/27 - 2
7-117243699-A-C c.2771A>C p.Asp924Ala Missense 17/27 - 1
7-117243700-C-A c.2772C>A p.Asp924Glu Missense 17/27 - 2
7-117243700-C-G c.2772C>G p.Asp924Glu Missense 17/27 - 2
7-117243708-T-C c.2780T>C p.Leu927Pro Missense 17/27 - 9
7-117243710-G-C c.2782G>C p.Ala928Pro Missense 17/27 - 1
7-117243719-TT-GC c.2791_2792delinsGC p.Phe931Ala Missense 17/27 - 1
7-117243721-C-T c.2793C>T p.Phe931Phe Synonymous 17/27 - 1
7-117243723-T-C c.2795T>C p.Phe932Ser Missense 17/27 - 1
7-117243725-A-G c.2797A>G p.Arg933Gly Missense 17/27 - 1
7-117243725-AG-GA c.2797_2798delinsGA p.Arg933Glu Missense 17/27 - 1
7-117243732-T-A c.2804T>A p.Leu935Gln Missense 17/27 - 1
7-117243733-A-G c.2805A>G p.Leu935Leu Synonymous 17/27 - 1
7-117243741-T-G c.2813T>G p.Val938Gly Missense 17/27 - 3
7-117243742-G-GGG c.2814_2815insGG p.His939Glyfs*4 Frameshift 17/27 - 1
7-117243744-A-G c.2816A>G p.His939Arg Missense 17/27 - 4
7-117243749-CTA-TGT c.2821_2823delinsTGT p.Leu941Cys Missense 17/27 - 1
7-117243750-CT-C c.2822del p.Leu941Glnfs*27 Frameshift 17/27 - 1
7-117243752-AT-TG c.2824_2825delinsTG p.Ile942Cys Missense 17/27 - 1
7-117243752-ATC-TAA c.2824_2826delinsTAA p.Ile942* Nonsense 17/27 - 1
7-117243755-ACA-TGT c.2827_2829inv p.Thr943Cys Missense 17/27 - 1
7-117243758-GTG-TGT c.2830_2832delinsTGT p.Val944Cys Missense 17/27 - 1
7-117243762-CG-GT c.2834_2835delinsGT p.Ser945Cys Missense 17/27 - 1
7-117243762-C-T c.2834C>T p.Ser945Leu Missense 17/27 - 30
7-117243764-AAA-GAC c.2836_2838delinsGAC p.Lys946Asp Missense 17/27 - 1
7-117243764-AAA-TGT c.2836_2838delinsTGT p.Lys946Cys Missense 17/27 - 3
7-117243764-AA-GC c.2836_2837delinsGC p.Lys946Ala Missense 17/27 - 2
7-117243765-A-G c.2837A>G p.Lys946Arg Missense 17/27 - 1
7-117243767-AT-TG c.2839_2840delinsTG p.Ile947Cys Missense 17/27 - 1
7-117243771-TA-GT c.2843_2844delinsGT p.Leu948Cys Missense 17/27 - 1
7-117243773-CA-TG c.2845_2846inv p.His949Cys Missense 17/27 - 2
7-117243773-C-T c.2845C>T p.His949Tyr Missense 17/27 - 5
7-117243774-A-T c.2846A>T p.His949Leu Missense 17/27 - 2
7-117243776-CA-TG c.2848_2849inv p.His950Cys Missense 17/27 - 3
7-117243776-CA-GC c.2848_2849delinsGC p.His950Ala Missense 17/27 - 2
7-117243776-C-G c.2848C>G p.His950Asp Missense 17/27 - 2
7-117243777-A-G c.2849A>G p.His950Arg Missense 17/27 - 3
7-117243778-C-A c.2850C>A p.His950Gln Missense 17/27 - 1
7-117243778-C-G c.2850C>G p.His950Gln Missense 17/27 - 1
7-117243779-AA-GC c.2851_2852delinsGC p.Lys951Ala Missense 17/27 - 2
7-117243779-AAA-TGT c.2851_2853delinsTGT p.Lys951Cys Missense 17/27 - 2
7-117243780-A-G c.2852A>G p.Lys951Arg Missense 17/27 - 1
7-117243783-T-C c.2855T>C p.Met952Thr Missense 17/27 - 3
7-117243784-G-C c.2856G>C p.Met952Ile Missense 17/27 - 9
7-117243784-G-A c.2856G>A p.Met952Ile Missense 17/27 - 8
7-117243788-CA-TG c.2860_2861inv p.His954Cys Missense 17/27 - 2
7-117243788-C-T c.2860C>T p.His954Tyr Missense 17/27 - 1
7-117243788-CA-GC c.2860_2861delinsGC p.His954Ala Missense 17/27 - 2
7-117243791-T-G c.2863T>G p.Ser955Ala Missense 17/27 - 1
7-117243791-T-TT c.2863dup p.Ser955Phefs*20 Frameshift 17/27 - 1
7-117243792-C-G c.2864C>G p.Ser955Cys Missense 17/27 - 1
7-117243794-GT-TG c.2866_2867delinsTG p.Val956Cys Missense 17/27 - 1
7-117243800-CAA-GAC c.2872_2874delinsGAC p.Gln958Asp Missense 17/27 - 1
7-117243800-CA-GC c.2872_2873delinsGC p.Gln958Ala Missense 17/27 - 2
7-117243801-A-G c.2873A>G p.Gln958Arg Missense 17/27 - 1
7-117243803-AG-A c.2875del p.Ala959Hisfs*9 Frameshift 17/27 - 2
7-117243804-C-T c.2876C>T p.Ala959Val Missense 17/27 - 1
7-117243809-ATG-TGT c.2881_2883delinsTGT p.Met961Cys Missense 17/27 - 1
7-117243810-T-C c.2882T>C p.Met961Thr Missense 17/27 - 1
7-117243813-C-A c.2885C>A p.Ser962* Nonsense 17/27 - 1
7-117243813-CA-GT c.2885_2886delinsGT p.Ser962Cys Missense 17/27 - 1
7-117243815-AC-GG c.2887_2888delinsGG p.Thr963Gly Missense 17/27 - 1
7-117243824-ACG-TGT c.2896_2898delinsTGT p.Thr966Cys Missense 17/27 - 1
7-117243826-G-A c.2898G>A p.Thr966Thr Synonymous 17/27 - 5
7-117243828-T-C c.2900T>C p.Leu967Ser Missense 17/27 - 15
7-117243835-A-C c.2907A>C p.Ala969Ala Synonymous 17/27 - 3
7-117243835-A-G c.2907A>G p.Ala969Ala Synonymous 17/27 - 3
7-117243836-G-A c.2908G>A p.Gly970Ser Missense 17/27 - 3
7-117243836-G-C c.2908G>C p.Gly970Arg Missense 17/27 - 33
7-117243839-A-C c.2908+3A>C - IntronicSNV - 17/26 1
7-117244921-AGAAGAGTCAGACATGAGCGATGAGGCACAGTGGAAAGAACATGAGCATTGCCTGAGCTC-A c.2908+1085_2908+1143del - Unclassified - 17/26 1
7-117246315-A-C c.2909-413A>C - IntronicSNV - 17/26 1
7-117246325-G-A c.2909-403G>A - IntronicSNV - 17/26 1
7-117246325-G-C c.2909-403G>C - IntronicSNV - 17/26 1
7-117246636-G-A c.2909-92G>A - IntronicSNV - 17/26 2
7-117246657-G-C c.2909-71G>C - IntronicSNV - 17/26 1
7-117246713-T-G c.2909-15T>G - IntronicSNV - 17/26 2
7-117246728-G-A c.2909G>A p.Gly970Asp Missense 18/27 - 12
7-117246736-CT-TG c.2917_2918delinsTG p.Leu973Cys Missense 18/27 - 1
7-117246739-AA-TG c.2920_2921delinsTG p.Asn974Cys Missense 18/27 - 1
7-117246742-AGA-TGT c.2923_2925delinsTGT p.Arg975Cys Missense 18/27 - 2
7-117246746-T-G c.2927T>G p.Phe976Cys Missense 18/27 - 1
7-117246749-C-G c.2930C>G p.Ser977Cys Missense 18/27 - 1
7-117246749-C-T c.2930C>T p.Ser977Phe Missense 18/27 - 17
7-117246751-AAA-TGT c.2932_2934delinsTGT p.Lys978Cys Missense 18/27 - 13
7-117246751-AA-CC c.2932_2933delinsCC p.Lys978Pro Missense 18/27 - 1
7-117246751-A-G c.2932A>G p.Lys978Glu Missense 18/27 - 1
7-117246751-A-C c.2932A>C p.Lys978Gln Missense 18/27 - 1
7-117246752-A-G c.2933A>G p.Lys978Arg Missense 18/27 - 1
7-117246752-AA-GC c.2933_2934delinsGC p.Lys978Ser Missense 18/27 - 2
7-117246754-GA-TG c.2935_2936delinsTG p.Asp979Cys Missense 18/27 - 1
7-117246755-A-T c.2936A>T p.Asp979Val Missense 18/27 - 3
7-117246755-A-C c.2936A>C p.Asp979Ala Missense 18/27 - 8
7-117246757-ATA-TGT c.2938_2940delinsTGT p.Ile980Cys Missense 18/27 - 1
7-117246758-T-A c.2939T>A p.Ile980Lys Missense 18/27 - 1
7-117246760-GCA-TGT c.2941_2943delinsTGT p.Ala981Cys Missense 18/27 - 1
7-117246763-A-G c.2944A>G p.Ile982Val Missense 18/27 - 1
7-117246763-AT-TG c.2944_2945delinsTG p.Ile982Cys Missense 18/27 - 1
7-117246767-TG-GT c.2948_2949delinsGT p.Leu983Cys Missense 18/27 - 1
7-117246769-GA-TG c.2950_2951delinsTG p.Asp984Cys Missense 18/27 - 1
7-117246796-GA-TG c.2977_2978delinsTG p.Asp993Cys Missense 18/27 - 3
7-117246796-GA-CG c.2977_2978delinsCG p.Asp993Arg Missense 18/27 - 3
7-117246796-G-T c.2977G>T p.Asp993Tyr Missense 18/27 - 1
7-117246797-A-G c.2978A>G p.Asp993Gly Missense 18/27 - 2
7-117246797-A-C c.2978A>C p.Asp993Ala Missense 18/27 - 1
7-117246801-C-T c.2982C>T p.Phe994Phe Synonymous 18/27 - 1
7-117246807-G-A c.2988G>A p.Gln996Gln Synonymous 18/27 - 4
7-117246808-G-T c.2988+1G>T - IntronicSNV - 18/26 3
7-117246808-G-A c.2988+1G>A - IntronicSNV - 18/26 22
7-117246808-G-C c.2988+1G>C - IntronicSNV - 18/26 2
7-117246827-G-A c.2988+20G>A - IntronicSNV - 18/26 1
7-117247980-TCCTGAGTCACTAAATGCTGACATTTGTTTTTCATGTTAAGAGTGTAAATAACTGGTCCC-T c.2988+1173_2988+1231del - Unclassified - 18/26 1
7-117248361-C-T c.2988+1554C>T - IntronicSNV - 18/26 1
7-117249596-TGTATTTGGTGTAATGTAGAAATATAGAAATTTATTAAGTATGATTTATTTCAATGTTAA-T c.2989-976_2989-918del - Unclassified - 18/26 1
7-117250124-AGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAAACATCATTCTCAGTAAACTAT-A c.2989-449_2989-391del - Unclassified - 18/26 1
7-117250260-A-T c.2989-313A>T - IntronicSNV - 18/26 1
7-117250571-A-C c.2989-2A>C - IntronicSNV - 18/26 1
7-117250571-A-G c.2989-2A>G - IntronicSNV - 18/26 1
7-117250572-G-A c.2989-1G>A - IntronicSNV - 18/26 3
7-117250575-G-C c.2991G>C p.Leu997Phe Missense 19/27 - 48
7-117250581-TAATT-T c.2997_3000del p.Ile1000* Frameshift 19/27 - 2
7-117250588-A-T c.3004A>T p.Ile1002Phe Missense 19/27 - 1
7-117250594-AGCT-A c.3010_3012del p.Ala1004del InFrameDeletion 19/27 - 1
7-117250598-T-G c.3014T>G p.Ile1005Arg Missense 19/27 - 3
7-117250601-C-A c.3017C>A p.Ala1006Glu Missense 19/27 - 6
7-117250609-G-A c.3025G>A p.Ala1009Thr Missense 19/27 - 1
7-117250621-C-T c.3037C>T p.Pro1013Ser Missense 19/27 - 1
7-117250622-C-T c.3038C>T p.Pro1013Leu Missense 19/27 - 4
7-117250622-C-A c.3038C>A p.Pro1013His Missense 19/27 - 1
7-117250623-CC-C c.3039del p.Tyr1014Thrfs*9 Frameshift 19/27 - 1
7-117250625-A-G c.3041A>G p.Tyr1014Cys Missense 19/27 - 7
7-117250631-T-C c.3047T>C p.Phe1016Ser Missense 19/27 - 3
7-117250639-ACA-TGT c.3055_3057inv p.Thr1019Cys Missense 19/27 - 1
7-117250643-T-A c.3059T>A p.Val1020Glu Missense 19/27 - 1
7-117250645-C-T c.3061C>T p.Pro1021Ser Missense 19/27 - 1
7-117250646-C-T c.3062C>T p.Pro1021Leu Missense 19/27 - 1
7-117250648-AG-A c.3064del p.Val1022* Frameshift 19/27 - 1
7-117250648-G-A c.3064G>A p.Val1022Met Missense 19/27 - 1
7-117250651-GATAGTG-G c.3067_3072del p.Ile1023_Val1024del InFrameDeletion 19/27 - 4
7-117250651-GATAGTGG-G c.3067_3073del p.Ile1023Leufs*5 Frameshift 19/27 - 1
7-117250651-GA-G c.3067del p.Ile1023* Frameshift 19/27 - 1
7-117250652-T-G c.3068T>G p.Ile1023Arg Missense 19/27 - 5
7-117250655-GTGG-G c.3071_3073del p.Val1024del InFrameDeletion 19/27 - 2
7-117250658-C-A c.3074C>A p.Ala1025Asp Missense 19/27 - 1
7-117250664-T-C c.3080T>C p.Ile1027Thr Missense 19/27 - 15
7-117250667-T-G c.3083T>G p.Met1028Arg Missense 19/27 - 2
7-117250668-G-T c.3084G>T p.Met1028Ile Missense 19/27 - 1
7-117250668-G-C c.3084G>C p.Met1028Ile Missense 19/27 - 1
7-117250668-G-A c.3084G>A p.Met1028Ile Missense 19/27 - 1
7-117250672-AG-GA c.3088_3089delinsGA p.Arg1030Glu Missense 19/27 - 2
7-117250672-AG-CA c.3088_3089delinsCA p.Arg1030Gln Missense 19/27 - 1
7-117250678-T-A c.3094T>A p.Tyr1032Asn Missense 19/27 - 1
7-117250679-A-G c.3095A>G p.Tyr1032Cys Missense 19/27 - 7
7-117250691-C-A c.3107C>A p.Thr1036Asn Missense 19/27 - 2
7-117250691-C-T c.3107C>T p.Thr1036Ile Missense 19/27 - 2
7-117250696-C-T c.3112C>T p.Gln1038* Nonsense 19/27 - 1
7-117250703-T-A c.3119T>A p.Leu1040His Missense 19/27 - 1
7-117250705-AAA-TGT c.3121_3123delinsTGT p.Lys1041Cys Missense 19/27 - 2
7-117250705-A-G c.3121A>G p.Lys1041Glu Missense 19/27 - 1
7-117250705-A-C c.3121A>C p.Lys1041Gln Missense 19/27 - 1
7-117250705-A-T c.3121A>T p.Lys1041* Nonsense 19/27 - 1
7-117250706-A-G c.3122A>G p.Lys1041Arg Missense 19/27 - 1
7-117250709-A-G c.3125A>G p.Gln1042Arg Missense 19/27 - 1
7-117250712-T-G c.3128T>G p.Leu1043Arg Missense 19/27 - 1
7-117250717-T-A c.3133T>A p.Ser1045Thr Missense 19/27 - 1
7-117250717-T-G c.3133T>G p.Ser1045Ala Missense 19/27 - 1
7-117250718-C-A c.3134C>A p.Ser1045Tyr Missense 19/27 - 3
7-117250723-G-C c.3139G>C p.Gly1047Arg Missense 19/27 - 1
7-117250724-GG-G c.3139+1del - Frameshift - 19/26 1
7-117250741-C-T c.3139+18C>T - IntronicSNV - 19/26 1
7-117250765-A-T c.3139+42A>T - IntronicSNV - 19/26 1
7-117250812-T-C c.3139+89T>C - IntronicSNV - 19/26 1
7-117251543-T-C c.3140-92T>C - IntronicSNV - 19/26 1
7-117251609-A-G c.3140-26A>G - IntronicSNV - 19/26 15
7-117251619-T-A c.3140-16T>A - IntronicSNV - 19/26 2
7-117251624-A-G c.3140-11A>G - IntronicSNV - 19/26 1
7-117251625-T-G c.3140-10T>G - IntronicSNV - 19/26 1
7-117251637-CAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAAGGACTATGGACACTTCGTGC-C c.3142_3200del p.Arg1048Leufs*8 InFrameDeletion 20/27 - 2
7-117251637-AG-CA c.3142_3143delinsCA p.Arg1048Gln Missense 20/27 - 1
7-117251637-AGG-TGT c.3142_3144delinsTGT p.Arg1048Cys Missense 20/27 - 2
7-117251649-T-G c.3154T>G p.Phe1052Val Missense 20/27 - 26
7-117251653-C-T c.3158C>T p.Thr1053Ile Missense 20/27 - 2
7-117251655-C-G c.3160C>G p.His1054Asp Missense 20/27 - 7
7-117251657-T-A c.3162T>A p.His1054Gln Missense 20/27 - 1
7-117251664-A-G c.3169A>G p.Thr1057Ala Missense 20/27 - 1
7-117251664-ACA-TGT c.3169_3171inv p.Thr1057Cys Missense 20/27 - 1
7-117251665-C-T c.3170C>T p.Thr1057Ile Missense 20/27 - 1
7-117251673-A-G c.3178A>G p.Lys1060Glu Missense 20/27 - 1
7-117251673-AAA-TGT c.3178_3180delinsTGT p.Lys1060Cys Missense 20/27 - 1
7-117251674-A-C c.3179A>C p.Lys1060Thr Missense 20/27 - 13
7-117251676-G-A c.3181G>A p.Gly1061Arg Missense 20/27 - 2
7-117251676-G-C c.3181G>C p.Gly1061Arg Missense 20/27 - 2
7-117251684-G-A c.3189G>A p.Trp1063* Nonsense 20/27 - 1
7-117251683-G-A c.3188G>A p.Trp1063* Nonsense 20/27 - 1
7-117251684-GG-G c.3189del p.Trp1063* Frameshift 20/27 - 1
7-117251685-ACA-TGT c.3190_3192inv p.Thr1064Cys Missense 20/27 - 1
7-117251689-T-G c.3194T>G p.Leu1065Arg Missense 20/27 - 3
7-117251689-T-C c.3194T>C p.Leu1065Pro Missense 20/27 - 21
7-117251690-TT-T c.3195del p.Arg1066Valfs*17 Frameshift 20/27 - 1
7-117251691-C-T c.3196C>T p.Arg1066Cys Missense 20/27 - 55
7-117251691-C-A c.3196C>A p.Arg1066Ser Missense 20/27 - 1
7-117251691-CGT-ATG c.3196_3198delinsATG p.Arg1066Met Missense 20/27 - 3
7-117251692-G-A c.3197G>A p.Arg1066His Missense 20/27 - 18
7-117251694-GC-TG c.3199_3200delinsTG p.Ala1067Cys Missense 20/27 - 3
7-117251694-G-A c.3199G>A p.Ala1067Thr Missense 20/27 - 13
7-117251694-TG-T c.3199del p.Ala1067Profs*16 Frameshift 20/27 - 2
7-117251695-GCCTTCG-G c.3200_3205del p.Ala1067_Phe1068del InFrameDeletion 20/27 - 1
7-117251695-C-T c.3200C>T p.Ala1067Val Missense 20/27 - 1
7-117251697-TTC-ATG c.3202_3204delinsATG p.Phe1068Met Missense 20/27 - 1
7-117251699-C-T c.3204C>T p.Phe1068Phe Synonymous 20/27 - 1
7-117251700-GGA-TGT c.3205_3207delinsTGT p.Gly1069Cys Missense 20/27 - 2
7-117251700-G-A c.3205G>A p.Gly1069Arg Missense 20/27 - 23
7-117251703-CG-GC c.3208_3209delinsGC p.Arg1070Ala Missense 20/27 - 3
7-117251703-C-T c.3208C>T p.Arg1070Trp Missense 20/27 - 51
7-117251703-CGG-GAC c.3208_3210delinsGAC p.Arg1070Asp Missense 20/27 - 3
7-117251703-CG-AA c.3208_3209delinsAA p.Arg1070Lys Missense 20/27 - 1
7-117251704-G-C c.3209G>C p.Arg1070Pro Missense 20/27 - 2
7-117251704-G-A c.3209G>A p.Arg1070Gln Missense 20/27 - 30
7-117251707-A-C c.3212A>C p.Gln1071Pro Missense 20/27 - 1
7-117251709-C-A c.3214C>A p.Pro1072Thr Missense 20/27 - 1
7-117251709-C-G c.3214C>G p.Pro1072Ala Missense 20/27 - 1
7-117251713-A-G c.3218A>G p.Tyr1073Cys Missense 20/27 - 1
7-117251717-T-A c.3222T>A p.Phe1074Leu Missense 20/27 - 8
7-117251721-A-C c.3226A>C p.Thr1076Pro Missense 20/27 - 1
7-117251725-T-C c.3230T>C p.Leu1077Pro Missense 20/27 - 29
7-117251733-A-C c.3238A>C p.Lys1080Gln Missense 20/27 - 1
7-117251733-A-T c.3238A>T p.Lys1080* Nonsense 20/27 - 1
7-117251734-A-T c.3239A>T p.Lys1080Ile Missense 20/27 - 1
7-117251734-A-G c.3239A>G p.Lys1080Arg Missense 20/27 - 1
7-117251748-C-T c.3253C>T p.His1085Tyr Missense 20/27 - 3
7-117251748-CA-TG c.3253_3254inv p.His1085Cys Missense 20/27 - 1
7-117251749-A-C c.3254A>C p.His1085Pro Missense 20/27 - 1
7-117251749-A-G c.3254A>G p.His1085Arg Missense 20/27 - 9
7-117251751-A-G c.3256A>G p.Thr1086Ala Missense 20/27 - 1
7-117251754-G-A c.3259G>A p.Ala1087Thr Missense 20/27 - 1
7-117251754-G-C c.3259G>C p.Ala1087Pro Missense 20/27 - 1
7-117251758-A-G c.3263A>G p.Asn1088Ser Missense 20/27 - 1
7-117251761-G-A c.3266G>A p.Trp1089* Nonsense 20/27 - 12
7-117251770-A-G c.3275A>G p.Tyr1092Cys Missense 20/27 - 1
7-117251771-C-A c.3276C>A p.Tyr1092* Nonsense 20/27 - 42
7-117251771-C-G c.3276C>G p.Tyr1092* Nonsense 20/27 - 37
7-117251772-C-A c.3277C>A p.Leu1093Met Missense 20/27 - 2
7-117251773-T-C c.3278T>C p.Leu1093Pro Missense 20/27 - 3
7-117251780-A-T c.3285A>T p.Thr1095Thr Synonymous 20/27 - 2
7-117251781-C-T c.3286C>T p.Leu1096Leu Synonymous 20/27 - 1
7-117251783-G-T c.3288G>T p.Leu1096Leu Synonymous 20/27 - 1
7-117251783-G-A c.3288G>A p.Leu1096Leu Synonymous 20/27 - 1
7-117251783-G-C c.3288G>C p.Leu1096Leu Synonymous 20/27 - 1
7-117251784-C-T c.3289C>T p.Arg1097Cys Missense 20/27 - 2
7-117251787-T-C c.3292T>C p.Trp1098Arg Missense 20/27 - 2
7-117251787-T-A c.3292T>A p.Trp1098Arg Missense 20/27 - 2
7-117251789-G-A c.3294G>A p.Trp1098* Nonsense 20/27 - 5
7-117251789-G-C c.3294G>C p.Trp1098Cys Missense 20/27 - 3
7-117251792-C-A c.3297C>A p.Phe1099Leu Missense 20/27 - 3
7-117251794-A-C c.3299A>C p.Gln1100Pro Missense 20/27 - 6
7-117251797-T-G c.3302T>G p.Met1101Arg Missense 20/27 - 4
7-117251797-T-A c.3302T>A p.Met1101Lys Missense 20/27 - 30
7-117251799-AG-GA c.3304_3305delinsGA p.Arg1102Glu Missense 20/27 - 1
7-117251799-A-T c.3304A>T p.Arg1102* Nonsense 20/27 - 2
7-117251800-G-A c.3305G>A p.Arg1102Lys Missense 20/27 - 2
7-117251802-AA-A c.3307del p.Ile1103* Frameshift 20/27 - 2
7-117251805-GAA-TAT c.3310_3312delinsTAT p.Glu1104Tyr Missense 20/27 - 1
7-117251805-G-T c.3310G>T p.Glu1104* Nonsense 20/27 - 12
7-117251814-T-C c.3319T>C p.Phe1107Leu Missense 20/27 - 2
7-117251817-G-C c.3322G>C p.Val1108Leu Missense 20/27 - 2
7-117251838-AC-TG c.3343_3344delinsTG p.Thr1115Cys Missense 20/27 - 1
7-117251840-C-A c.3345C>A p.Thr1115Thr Synonymous 20/27 - 1
7-117251847-T-G c.3352T>G p.Ser1118Ala Missense 20/27 - 1
7-117251848-C-G c.3353C>G p.Ser1118Cys Missense 20/27 - 2
7-117251848-C-T c.3353C>T p.Ser1118Phe Missense 20/27 - 4
7-117251856-ACA-TGT c.3361_3363inv p.Thr1121Cys Missense 20/27 - 2
7-117251859-ACA-TGT c.3364_3366inv p.Thr1122Cys Missense 20/27 - 1
7-117251899-G-A c.3367+37G>A - IntronicSNV - 20/26 1
7-117251907-T-C c.3367+45T>C - IntronicSNV - 20/26 1
7-117252111-TA-T c.3367+249del - IntronicDeletion - 20/26 1
7-117254527-A-C c.3368-140A>C - IntronicSNV - 20/26 1
7-117254578-G-C c.3368-89G>C - IntronicSNV - 20/26 1
7-117254610-C-T c.3368-57C>T - IntronicSNV - 20/26 1
7-117254669-GA-AG c.3370_3371delinsAG p.Glu1124Arg Missense 21/27 - 1
7-117254669-GAA-TGT c.3370_3372delinsTGT p.Glu1124Cys Missense 21/27 - 1
7-117254670-GAAG-G c.3371_3373del p.Glu1124del InFrameDeletion 21/27 - 1
7-117254675-GA-AG c.3376_3377delinsAG p.Glu1126Arg Missense 21/27 - 1
7-117254676-A-G c.3377A>G p.Glu1126Gly Missense 21/27 - 1
7-117254678-GGA-TGT c.3379_3381delinsTGT p.Gly1127Cys Missense 21/27 - 2
7-117254679-GGAAG-G c.3380_3383del p.Gly1127Glufs*6 Frameshift 21/27 - 1
7-117254681-AG-CA c.3382_3383delinsCA p.Arg1128Gln Missense 21/27 - 1
7-117254681-A-G c.3382A>G p.Arg1128Gly Missense 21/27 - 1
7-117254681-A-T c.3382A>T p.Arg1128* Nonsense 21/27 - 1
7-117254688-G-C c.3389G>C p.Gly1130Ala Missense 21/27 - 2
7-117254690-AT-TG c.3391_3392delinsTG p.Ile1131Cys Missense 21/27 - 2
7-117254690-A-C c.3391A>C p.Ile1131Leu Missense 21/27 - 1
7-117254694-T-TA c.3395_3396insA p.Leu1133Profs*23 Frameshift 21/27 - 1
7-117254699-AC-TG c.3400_3401delinsTG p.Thr1134Cys Missense 21/27 - 1
7-117254699-AC-GTA c.3400_3401delinsGTA p.Thr1134Valfs*22 Frameshift 21/27 - 1
7-117254705-G-A c.3406G>A p.Ala1136Thr Missense 21/27 - 2
7-117254708-A-G c.3409A>G p.Met1137Val Missense 21/27 - 3
7-117254709-T-G c.3410T>G p.Met1137Arg Missense 21/27 - 4
7-117254711-A-T c.3412A>T p.Asn1138Tyr Missense 21/27 - 1
7-117254711-AA-CT c.3412_3413delinsCT p.Asn1138Leu Missense 21/27 - 1
7-117254711-AA-TT c.3412_3413inv p.Asn1138Phe Missense 21/27 - 1
7-117254711-AA-TG c.3412_3413delinsTG p.Asn1138Cys Missense 21/27 - 2
7-117254714-A-G c.3415A>G p.Ile1139Val Missense 21/27 - 2
7-117254714-AT-TG c.3415_3416delinsTG p.Ile1139Cys Missense 21/27 - 1
7-117254717-A-T c.3418A>T p.Met1140Leu Missense 21/27 - 1
7-117254717-ATG-TGT c.3418_3420delinsTGT p.Met1140Cys Missense 21/27 - 2
7-117254718-T-A c.3419T>A p.Met1140Lys Missense 21/27 - 3
7-117254720-AG-GC c.3421_3422delinsGC p.Ser1141Ala Missense 21/27 - 1
7-117254720-A-T c.3421A>T p.Ser1141Cys Missense 21/27 - 6
7-117254721-GT-AG c.3422_3423delinsAG p.Ser1141Lys Missense 21/27 - 4
7-117254721-G-C c.3422G>C p.Ser1141Thr Missense 21/27 - 1
7-117254720-A-C c.3421A>C p.Ser1141Arg Missense 21/27 - 2
7-117254722-T-G c.3423T>G p.Ser1141Arg Missense 21/27 - 2
7-117254722-T-A c.3423T>A p.Ser1141Arg Missense 21/27 - 2
7-117254723-ACA-TGT c.3424_3426inv p.Thr1142Cys Missense 21/27 - 6
7-117254724-C-T c.3425C>T p.Thr1142Ile Missense 21/27 - 1
7-117254727-TG-GT c.3428_3429delinsGT p.Leu1143Cys Missense 21/27 - 1
7-117254729-CAG-TGT c.3430_3432delinsTGT p.Gln1144Cys Missense 21/27 - 2
7-117254734-G-A c.3435G>A p.Trp1145* Nonsense 21/27 - 2
7-117254733-G-A c.3434G>A p.Trp1145* Nonsense 21/27 - 2
7-117254734-G-C c.3435G>C p.Trp1145Cys Missense 21/27 - 5
7-117254734-G-T c.3435G>T p.Trp1145Cys Missense 21/27 - 5
7-117254736-GC-G c.3437del p.Ala1146Valfs*2 Frameshift 21/27 - 3
7-117254738-GTA-TGT c.3439_3441delinsTGT p.Val1147Cys Missense 21/27 - 1
7-117254741-AA-TG c.3442_3443delinsTG p.Asn1148Cys Missense 21/27 - 3
7-117254744-T-G c.3445T>G p.Ser1149Ala Missense 21/27 - 1
7-117254745-C-G c.3446C>G p.Ser1149Cys Missense 21/27 - 2
7-117254753-G-C c.3454G>C p.Asp1152His Missense 21/27 - 102
7-117254754-A-C c.3455A>C p.Asp1152Ala Missense 21/27 - 3
7-117254757-T-A c.3458T>A p.Val1153Glu Missense 21/27 - 2
7-117254758-G-C c.3459G>C p.Val1153Val Synonymous 21/27 - 1
7-117254767-G-A c.3468G>A p.Leu1156Leu Synonymous 21/27 - 1
7-117254767-G-T c.3468G>T p.Leu1156Phe Missense 21/27 - 3
7-117254768-G-T c.3468+1G>T - IntronicSNV - 21/26 1
7-117256374-C-T c.3468+1607C>T - IntronicSNV - 21/26 3
7-117256712-G-A c.3468+1945G>A - IntronicSNV - 21/26 3
7-117257687-C-G c.3468+2920C>G - IntronicSNV - 21/26 1
7-117257687-C-T c.3468+2920C>T - IntronicSNV - 21/26 1
7-117259011-G-A c.3468+4244G>A - IntronicSNV - 21/26 1
7-117259340-A-G c.3468+4573A>G - IntronicSNV - 21/26 1
7-117261293-C-T c.3469-6283C>T - IntronicSNV - 21/26 2
7-117262304-G-A c.3469-5272G>A - IntronicSNV - 21/26 2
7-117264126-T-C c.3469-3450T>C - IntronicSNV - 21/26 1
7-117266272-C-G c.3469-1304C>G - IntronicSNV - 21/26 1
7-117267284-TT-T c.3469-292del - IntronicDeletion - 21/26 1
7-117267511-C-A c.3469-65C>A - IntronicSNV - 21/26 3
7-117267556-T-C c.3469-20T>C - IntronicSNV - 21/26 2
7-117267579-C-T c.3472C>T p.Arg1158* Nonsense 22/27 - 31
7-117267579-C-A c.3472C>A p.Arg1158Arg Synonymous 22/27 - 2
7-117267582-T-C c.3475T>C p.Ser1159Pro Missense 22/27 - 5
7-117267583-C-T c.3476C>T p.Ser1159Phe Missense 22/27 - 5
7-117267591-CGA-TGT c.3484_3486delinsTGT p.Arg1162Cys Missense 22/27 - 1
7-117267591-CG-AT c.3484_3485delinsAT p.Arg1162Ile Missense 22/27 - 1
7-117267591-C-T c.3484C>T p.Arg1162* Nonsense 22/27 - 141
7-117267592-G-A c.3485G>A p.Arg1162Gln Missense 22/27 - 1
7-117267592-G-T c.3485G>T p.Arg1162Leu Missense 22/27 - 12
7-117267593-GAG-G c.3486_3487del p.Val1163Leufs*2 Frameshift 22/27 - 1
7-117267600-A-G c.3493A>G p.Lys1165Glu Missense 22/27 - 1
7-117267600-AAG-TGT c.3493_3495delinsTGT p.Lys1165Cys Missense 22/27 - 1
7-117267604-TT-T c.3497del p.Phe1166Serfs*26 Frameshift 22/27 - 1
7-117267604-T-G c.3497T>G p.Phe1166Cys Missense 22/27 - 1
7-117267610-A-G c.3503A>G p.Asp1168Gly Missense 22/27 - 1
7-117267611-C-T c.3504C>T p.Asp1168Asp Synonymous 22/27 - 1
7-117267615-C-G c.3508C>G p.Pro1170Ala Missense 22/27 - 1
7-117267621-G-T c.3514G>T p.Glu1172* Nonsense 22/27 - 1
7-117267624-G-A c.3517G>A p.Gly1173Ser Missense 22/27 - 1
7-117267626-T-G c.3519T>G p.Gly1173Gly Synonymous 22/27 - 1
7-117267627-A-T c.3520A>T p.Lys1174* Nonsense 22/27 - 1
7-117267635-CC-C c.3528del p.Lys1177Serfs*15 Frameshift 22/27 - 13
7-117267636-A-T c.3529A>T p.Lys1177* Nonsense 22/27 - 2
7-117267637-A-G c.3530A>G p.Lys1177Arg Missense 22/27 - 1
7-117267642-AACCAAAC-A c.3535_3541del p.Thr1179Hisfs*11 Frameshift 22/27 - 1
7-117267646-A-C c.3539A>C p.Lys1180Thr Missense 22/27 - 1
7-117267647-AA-A c.3540del p.Lys1180Asnfs*12 Frameshift 22/27 - 1
7-117267649-C-G c.3542C>G p.Pro1181Arg Missense 22/27 - 1
7-117267653-C-A c.3546C>A p.Tyr1182* Nonsense 22/27 - 1
7-117267653-C-G c.3546C>G p.Tyr1182* Nonsense 22/27 - 1
7-117267663-C-T c.3556C>T p.Gln1186* Nonsense 22/27 - 1
7-117267665-AA-A c.3558del p.Gln1186Hisfs*6 Frameshift 22/27 - 1
7-117267680-G-T c.3573G>T p.Met1191Ile Missense 22/27 - 1
7-117267680-G-C c.3573G>C p.Met1191Ile Missense 22/27 - 1
7-117267680-G-A c.3573G>A p.Met1191Ile Missense 22/27 - 1
7-117267681-ATT-TGG c.3574_3576delinsTGG p.Ile1192Trp Missense 22/27 - 1
7-117267688-A-C c.3581A>C p.Glu1194Ala Missense 22/27 - 1
7-117267690-AA-CC c.3583_3584delinsCC p.Asn1195Pro Missense 22/27 - 1
7-117267691-A-C c.3584A>C p.Asn1195Thr Missense 22/27 - 1
7-117267693-T-A c.3586T>A p.Ser1196Thr Missense 22/27 - 1
7-117267694-C-G c.3587C>G p.Ser1196* Nonsense 22/27 - 15
7-117267699-G-A c.3592G>A p.Val1198Met Missense 22/27 - 2
7-117267701-G-T c.3594G>T p.Val1198Val Synonymous 22/27 - 1
7-117267703-A-G c.3596A>G p.Lys1199Arg Missense 22/27 - 1
7-117267705-A-G c.3598A>G p.Lys1200Glu Missense 22/27 - 1
7-117267714-A-G c.3607A>G p.Ile1203Val Missense 22/27 - 2
7-117267718-G-A c.3611G>A p.Trp1204* Nonsense 22/27 - 9
7-117267719-G-A c.3612G>A p.Trp1204* Nonsense 22/27 - 11
7-117267724-C-A c.3617C>A p.Ser1206* Nonsense 22/27 - 3
7-117267730-G-A c.3623G>A p.Gly1208Asp Missense 22/27 - 3
7-117267737-G-C c.3630G>C p.Met1210Ile Missense 22/27 - 1
7-117267737-G-T c.3630G>T p.Met1210Ile Missense 22/27 - 1
7-117267737-G-A c.3630G>A p.Met1210Ile Missense 22/27 - 1
7-117267741-G-T c.3634G>T p.Val1212Phe Missense 22/27 - 1
7-117267742-GT-G c.3635del p.Val1212Alafs*16 Frameshift 22/27 - 4
7-117267746-AA-A c.3639del p.Asp1214Ilefs*14 Frameshift 22/27 - 1
7-117267760-A-G c.3653A>G p.Lys1218Arg Missense 22/27 - 1
7-117267762-TA-AT c.3655_3656delinsAT p.Tyr1219Ile Missense 22/27 - 4
7-117267762-TA-GG c.3655_3656delinsGG p.Tyr1219Gly Missense 22/27 - 15
7-117267763-A-T c.3656A>T p.Tyr1219Phe Missense 22/27 - 4
7-117267763-AC-GG c.3656_3657delinsGG p.Tyr1219Trp Missense 22/27 - 2
7-117267764-C-A c.3657C>A p.Tyr1219* Nonsense 22/27 - 1
7-117267764-C-G c.3657C>G p.Tyr1219* Nonsense 22/27 - 1
7-117267766-C-T c.3659C>T p.Thr1220Ile Missense 22/27 - 2
7-117267766-AC-A c.3659del p.Thr1220Lysfs*8 Frameshift 22/27 - 5
7-117267779-T-A c.3672T>A p.Asn1224Lys Missense 22/27 - 1
7-117267783-A-G c.3676A>G p.Ile1226Val Missense 22/27 - 1
7-117267787-T-C c.3680T>C p.Leu1227Ser Missense 22/27 - 2
7-117267798-TT-T c.3691del p.Ser1231Profs*4 Frameshift 22/27 - 6
7-117267807-A-G c.3700A>G p.Ile1234Val Missense 22/27 - 38
7-117267807-AATAAG-A c.3700_3704del p.Ile1234Serfs*29 Frameshift 22/27 - 1
7-117267807-AATAAGTCCTGGCCAGAGG-A c.3700_3717del p.Ile1234_Arg1239del InFrameDeletion 22/27 - 5
7-117267808-ATAA-A c.3701_3703del p.Ile1234del InFrameDeletion 22/27 - 1
7-117267810-A-G c.3703A>G p.Ser1235Gly Missense 22/27 - 1
7-117267810-A-C c.3703A>C p.Ser1235Arg Missense 22/27 - 31
7-117267812-T-G c.3705T>G p.Ser1235Arg Missense 22/27 - 44
7-117267817-G-A c.3710G>A p.Gly1237Asp Missense 22/27 - 1
7-117267819-C-T c.3712C>T p.Gln1238* Nonsense 22/27 - 2
7-117267820-A-C c.3713A>C p.Gln1238Pro Missense 22/27 - 1
7-117267820-A-G c.3713A>G p.Gln1238Arg Missense 22/27 - 1
7-117267824-G-T c.3717G>T p.Arg1239Ser Missense 22/27 - 1
7-117267824-G-C c.3717G>C p.Arg1239Ser Missense 22/27 - 1
7-117267824-G-A c.3717G>A p.Arg1239Arg Synonymous 22/27 - 4
7-117267822-A-C c.3715A>C p.Arg1239Arg Synonymous 22/27 - 2
7-117267864-A-G c.3717+40A>G - IntronicSNV - 22/26 1
7-117271646-GG-G c.3717+3822del - IntronicDeletion - 22/26 1
7-117279961-A-G c.3718-2531A>G - IntronicSNV - 22/26 1
7-117279962-A-G c.3718-2530A>G - IntronicSNV - 22/26 1
7-117280015-C-T c.3718-2477C>T - IntronicSNV - 22/26 36
7-117280015-C-G c.3718-2477C>G - IntronicSNV - 22/26 3
7-117282468-G-A c.3718-24G>A - IntronicSNV - 22/26 3
7-117282489-T-G c.3718-3T>G - IntronicSNV - 22/26 1
7-117282493-T-G c.3719T>G p.Val1240Gly Missense 23/27 - 2
7-117282494-G-GA c.3720_3721insA p.Gly1241Argfs*24 Frameshift 23/27 - 1
7-117282495-GGGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACT-G c.3721_3779del p.Gly1241Thrfs*4 InFrameDeletion 23/27 - 1
7-117282498-C-A c.3724C>A p.Leu1242Ile Missense 23/27 - 1
7-117282504-G-A c.3730G>A p.Gly1244Arg Missense 23/27 - 3
7-117282504-G-C c.3730G>C p.Gly1244Arg Missense 23/27 - 3
7-117282505-G-T c.3731G>T p.Gly1244Val Missense 23/27 - 4
7-117282505-G-A c.3731G>A p.Gly1244Glu Missense 23/27 - 83
7-117282507-A-G c.3733A>G p.Arg1245Gly Missense 23/27 - 1
7-117282511-C-A c.3737C>A p.Thr1246Asn Missense 23/27 - 6
7-117282511-C-T c.3737C>T p.Thr1246Ile Missense 23/27 - 3
7-117282513-G-C c.3739G>C p.Gly1247Arg Missense 23/27 - 1
7-117282516-T-G c.3742T>G p.Ser1248Ala Missense 23/27 - 1
7-117282517-CA-TT c.3743_3744delinsTT p.Ser1248Phe Missense 23/27 - 4
7-117282517-CA-GT c.3743_3744delinsGT p.Ser1248Cys Missense 23/27 - 4
7-117282518-CA-C c.3744del p.Lys1250Argfs*9 Frameshift 23/27 - 7
7-117282519-G-C c.3745G>C p.Gly1249Arg Missense 23/27 - 4
7-117282519-G-A c.3745G>A p.Gly1249Arg Missense 23/27 - 4
7-117282520-G-A c.3746G>A p.Gly1249Glu Missense 23/27 - 4
7-117282522-AA-GC c.3748_3749delinsGC p.Lys1250Ala Missense 23/27 - 50
7-117282523-A-T c.3749A>T p.Lys1250Met Missense 23/27 - 2
7-117282523-A-G c.3749A>G p.Lys1250Arg Missense 23/27 - 12
7-117282525-AG-GC c.3751_3752delinsGC p.Ser1251Ala Missense 23/27 - 1
7-117282526-G-A c.3752G>A p.Ser1251Asn Missense 23/27 - 98
7-117282526-G-C c.3752G>C p.Ser1251Thr Missense 23/27 - 1
7-117282528-A-C c.3754A>C p.Thr1252Pro Missense 23/27 - 1
7-117282534-TT-GC c.3760_3761delinsGC p.Leu1254Ala Missense 23/27 - 3
7-117282535-T-A c.3761T>A p.Leu1254* Nonsense 23/27 - 1
7-117282535-T-G c.3761T>G p.Leu1254* Nonsense 23/27 - 1
7-117282537-TCA-ATG c.3763_3765delinsATG p.Ser1255Met Missense 23/27 - 1
7-117282537-T-A c.3763T>A p.Ser1255Thr Missense 23/27 - 2
7-117282537-T-C c.3763T>C p.Ser1255Pro Missense 23/27 - 62
7-117282538-C-A c.3764C>A p.Ser1255* Nonsense 23/27 - 12
7-117282538-C-T c.3764C>T p.Ser1255Leu Missense 23/27 - 3
7-117282545-T-G c.3771T>G p.Phe1257Leu Missense 23/27 - 1
7-117282545-T-A c.3771T>A p.Phe1257Leu Missense 23/27 - 1
7-117282543-T-C c.3769T>C p.Phe1257Leu Missense 23/27 - 1
7-117282547-T-TT c.3773dup p.Leu1258Phefs*7 Frameshift 23/27 - 15
7-117282548-G-T c.3774G>T p.Leu1258Phe Missense 23/27 - 2
7-117282548-G-C c.3774G>C p.Leu1258Phe Missense 23/27 - 2
7-117282549-A-T c.3775A>T p.Arg1259* Nonsense 23/27 - 1
7-117282552-CTA-TGT c.3778_3780delinsTGT p.Leu1260Cys Missense 23/27 - 2
7-117282554-A-G c.3780A>G p.Leu1260Leu Synonymous 23/27 - 1
7-117282555-CTG-TGT c.3781_3783delinsTGT p.Leu1261Cys Missense 23/27 - 1
7-117282562-C-T c.3788C>T p.Thr1263Ile Missense 23/27 - 1
7-117282567-G-A c.3793G>A p.Gly1265Arg Missense 23/27 - 1
7-117282576-C-T c.3802C>T p.Gln1268* Nonsense 23/27 - 1
7-117282580-T-A c.3806T>A p.Ile1269Asn Missense 23/27 - 1
7-117282582-G-A c.3808G>A p.Asp1270Asn Missense 23/27 - 47
7-117282584-T-A c.3810T>A p.Asp1270Glu Missense 23/27 - 1
7-117282584-T-G c.3810T>G p.Asp1270Glu Missense 23/27 - 1
7-117282590-TGT-T c.3816_3817del p.Ser1273Leufs*28 Frameshift 23/27 - 2
7-117282594-TG-GT c.3820_3821delinsGT p.Trp1274Val Missense 23/27 - 1
7-117282596-G-A c.3822G>A p.Trp1274* Nonsense 23/27 - 2
7-117282612-C-G c.3838C>G p.Gln1280Glu Missense 23/27 - 5
7-117282612-CAA-TGT c.3838_3840delinsTGT p.Gln1280Cys Missense 23/27 - 4
7-117282615-C-T c.3841C>T p.Gln1281* Nonsense 23/27 - 1
7-117282615-C-A c.3841C>A p.Gln1281Lys Missense 23/27 - 1
7-117282616-A-G c.3842A>G p.Gln1281Arg Missense 23/27 - 1
7-117282618-TG-AA c.3844_3845delinsAA p.Trp1282Lys Missense 23/27 - 1
7-117282618-T-C c.3844T>C p.Trp1282Arg Missense 23/27 - 6
7-117282619-G-T c.3845G>T p.Trp1282Leu Missense 23/27 - 2
7-117282620-G-A c.3846G>A p.Trp1282* Nonsense 23/27 - 378
7-117282620-G-C c.3846G>C p.Trp1282Cys Missense 23/27 - 5
7-117282622-G-T c.3848G>T p.Arg1283Met Missense 23/27 - 4
7-117282623-G-C c.3849G>C p.Arg1283Ser Missense 23/27 - 1
7-117282624-AAA-TGT c.3850_3852delinsTGT p.Lys1284Cys Missense 23/27 - 1
7-117282628-C-T c.3854C>T p.Ala1285Val Missense 23/27 - 2
7-117282629-CC-C c.3855del p.Phe1286Leufs*3 Frameshift 23/27 - 1
7-117282639-A-G c.3865A>G p.Ile1289Val Missense 23/27 - 1
7-117282642-C-T c.3868C>T p.Pro1290Ser Missense 23/27 - 1
7-117282642-C-A c.3868C>A p.Pro1290Thr Missense 23/27 - 1
7-117282644-A-G c.3870A>G p.Pro1290Pro Synonymous 23/27 - 14
7-117282645-CA-GC c.3871_3872delinsGC p.Gln1291Ala Missense 23/27 - 1
7-117282645-CA-GG c.3871_3872delinsGG p.Gln1291Gly Missense 23/27 - 1
7-117282645-C-T c.3871C>T p.Gln1291* Nonsense 23/27 - 3
7-117282645-CAG-TAT c.3871_3873delinsTAT p.Gln1291Tyr Missense 23/27 - 1
7-117282645-CA-TG c.3871_3872inv p.Gln1291Trp Missense 23/27 - 1
7-117282645-CAG-TTT c.3871_3873delinsTTT p.Gln1291Phe Missense 23/27 - 2
7-117282646-A-G c.3872A>G p.Gln1291Arg Missense 23/27 - 7
7-117282647-G-C c.3873G>C p.Gln1291His Missense 23/27 - 4
7-117282647-G-T c.3873G>T p.Gln1291His Missense 23/27 - 4
7-117282648-G-A c.3873+1G>A - IntronicSNV - 23/26 1
7-117282764-T-G c.3873+117T>G - IntronicSNV - 23/26 1
7-117286524-G-A c.3873+3877G>A - IntronicSNV - 23/26 1
7-117288374-A-G c.3874-4522A>G - IntronicSNV - 23/26 1
7-117292696-G-A c.3874-200G>A - IntronicSNV - 23/26 1
7-117292882-C-G c.3874-14C>G - IntronicSNV - 23/26 1
7-117292894-A-G c.3874-2A>G - IntronicSNV - 23/26 1
7-117292896-AAA-TGT c.3874_3876delinsTGT p.Lys1292Cys Missense 24/27 - 1
7-117292896-AAA-GAC c.3874_3876delinsGAC p.Lys1292Asp Missense 24/27 - 2
7-117292896-A-G c.3874A>G p.Lys1292Glu Missense 24/27 - 1
7-117292899-G-A c.3877G>A p.Val1293Ile Missense 24/27 - 1
7-117292903-T-G c.3881T>G p.Phe1294Cys Missense 24/27 - 2
7-117292905-TATTT-T c.3883_3886del p.Ile1295Phefs*32 Frameshift 24/27 - 3
7-117292905-TA-T c.3883del p.Ile1295Phefs*33 Frameshift 24/27 - 4
7-117292908-TT-GC c.3886_3887delinsGC p.Phe1296Ala Missense 24/27 - 1
7-117292909-T-C c.3887T>C p.Phe1296Ser Missense 24/27 - 2
7-117292911-T-TT c.3889dup p.Ser1297Phefs*5 Frameshift 24/27 - 11
7-117292919-A-G c.3897A>G p.Thr1299Thr Synonymous 24/27 - 4
7-117292926-A-C c.3904A>C p.Lys1302Gln Missense 24/27 - 1
7-117292927-A-G c.3905A>G p.Lys1302Arg Missense 24/27 - 1
7-117292929-A-C c.3907A>C p.Asn1303His Missense 24/27 - 1
7-117292929-AAC-CAA c.3907_3909delinsCAA p.Asn1303Gln Missense 24/27 - 1
7-117292929-AA-CT c.3907_3908delinsCT p.Asn1303Leu Missense 24/27 - 1
7-117292930-A-C c.3908A>C p.Asn1303Thr Missense 24/27 - 1
7-117292930-AA-A c.3908del p.Asn1303Thrfs*25 Frameshift 24/27 - 1
7-117292930-A-AA c.3908dup p.Asn1303Lysfs*6 Frameshift 24/27 - 1
7-117292931-C-G c.3909C>G p.Asn1303Lys Missense 24/27 - 310
7-117292931-C-T c.3909C>T p.Asn1303Asn Synonymous 24/27 - 1
7-117292940-C-G c.3918C>G p.Pro1306Pro Synonymous 24/27 - 1
7-117292940-C-A c.3918C>A p.Pro1306Pro Synonymous 24/27 - 1
7-117292940-C-T c.3918C>T p.Pro1306Pro Synonymous 24/27 - 1
7-117292941-T-A c.3919T>A p.Tyr1307Asn Missense 24/27 - 4
7-117292942-A-G c.3920A>G p.Tyr1307Cys Missense 24/27 - 2
7-117292943-T-G c.3921T>G p.Tyr1307* Nonsense 24/27 - 2
7-117292943-T-A c.3921T>A p.Tyr1307* Nonsense 24/27 - 2
7-117292944-G-T c.3922G>T p.Glu1308* Nonsense 24/27 - 1
7-117292945-A-C c.3923A>C p.Glu1308Ala Missense 24/27 - 1
7-117292946-A-G c.3924A>G p.Glu1308Glu Synonymous 24/27 - 1
7-117292947-C-A c.3925C>A p.Gln1309Lys Missense 24/27 - 1
7-117292947-CA-GC c.3925_3926delinsGC p.Gln1309Ala Missense 24/27 - 1
7-117292948-A-G c.3926A>G p.Gln1309Arg Missense 24/27 - 1
7-117292949-AGTGGAGTGATCA-A c.3927_3938del p.Trp1310_Gln1313del InFrameDeletion 24/27 - 1
7-117292950-TGG-CAT c.3928_3930delinsCAT p.Trp1310His Missense 24/27 - 1
7-117292951-G-A c.3929G>A p.Trp1310* Nonsense 24/27 - 3
7-117292954-GT-AG c.3932_3933delinsAG p.Ser1311Lys Missense 24/27 - 1
7-117292957-A-G c.3935A>G p.Asp1312Gly Missense 24/27 - 1
7-117292959-C-T c.3937C>T p.Gln1313* Nonsense 24/27 - 9
7-117292970-G-A c.3948G>A p.Trp1316* Nonsense 24/27 - 3
7-117292969-G-A c.3947G>A p.Trp1316* Nonsense 24/27 - 3
7-117292975-T-C c.3953T>C p.Val1318Ala Missense 24/27 - 1
7-117292986-G-A c.3963+1G>A - IntronicSNV - 24/26 1
7-117292986-G-T c.3963+1G>T - IntronicSNV - 24/26 2
7-117293012-G-A c.3963+27G>A - IntronicSNV - 24/26 1
7-117293054-A-G c.3963+69A>G - IntronicSNV - 24/26 1
7-117299434-G-A c.3964-5308G>A - IntronicSNV - 24/26 1
7-117300259-C-T c.3964-4483C>T - IntronicSNV - 24/26 1
7-117300259-C-G c.3964-4483C>G - IntronicSNV - 24/26 1
7-117304664-TCCTGTGTTTATTTTTAGAATGTCAACTGCTTGAGTGTTTTTAACTCTGTGGTATCTGAA-T c.3964-77_3964-19del - Unclassified - 24/26 2
7-117304742-G-C c.3964G>C p.Val1322Leu Missense 25/27 - 1
7-117304751-A-G c.3973A>G p.Arg1325Gly Missense 25/27 - 1
7-117304752-G-A c.3974G>A p.Arg1325Lys Missense 25/27 - 1
7-117304757-TG-T c.3979del p.Val1327* Frameshift 25/27 - 1
7-117304763-G-C c.3985G>C p.Glu1329Gln Missense 25/27 - 1
7-117304766-C-G c.3988C>G p.Gln1330Glu Missense 25/27 - 1
7-117304768-G-A c.3990G>A p.Gln1330Gln Synonymous 25/27 - 1
7-117304772-CC-TT c.3994_3995delinsTT p.Pro1332Phe Missense 25/27 - 1
7-117304778-AA-GG c.4000_4001delinsGG p.Lys1334Gly Missense 25/27 - 2
7-117304782-T-C c.4004T>C p.Leu1335Pro Missense 25/27 - 7
7-117304784-GA-TG c.4006_4007delinsTG p.Asp1336Cys Missense 25/27 - 1
7-117304787-T-G c.4009T>G p.Phe1337Val Missense 25/27 - 1
7-117304790-G-A c.4012G>A p.Val1338Ile Missense 25/27 - 1
7-117304790-GT-AC c.4012_4013inv p.Val1338Thr Missense 25/27 - 1
7-117304795-T-TT c.4017dup p.Val1340Cysfs*19 Frameshift 25/27 - 1
7-117304799-GA-TG c.4021_4022delinsTG p.Asp1341Cys Missense 25/27 - 1
7-117304806-G-T c.4028G>T p.Gly1343Val Missense 25/27 - 1
7-117304808-TG-GC c.4030_4031delinsGC p.Cys1344Ala Missense 25/27 - 2
7-117304808-T-A c.4030T>A p.Cys1344Ser Missense 25/27 - 2
7-117304809-G-C c.4031G>C p.Cys1344Ser Missense 25/27 - 2
7-117304809-G-A c.4031G>A p.Cys1344Tyr Missense 25/27 - 1
7-117304811-GT-AA c.4033_4034delinsAA p.Val1345Asn Missense 25/27 - 1
7-117304812-T-C c.4034T>C p.Val1345Ala Missense 25/27 - 1
7-117304814-CCTAAGCC-C c.4036_4042del p.Leu1346Metfs*6 Frameshift 25/27 - 1
7-117304814-CTA-TGT c.4036_4038delinsTGT p.Leu1346Cys Missense 25/27 - 1
7-117304815-T-A c.4037T>A p.Leu1346Gln Missense 25/27 - 1
7-117304817-AG-GT c.4039_4040delinsGT p.Ser1347Val Missense 25/27 - 1
7-117304817-A-T c.4039A>T p.Ser1347Cys Missense 25/27 - 2
7-117304817-A-G c.4039A>G p.Ser1347Gly Missense 25/27 - 5
7-117304818-G-C c.4040G>C p.Ser1347Thr Missense 25/27 - 2
7-117304819-C-G c.4041C>G p.Ser1347Arg Missense 25/27 - 1
7-117304820-CA-GC c.4042_4043delinsGC p.His1348Ala Missense 25/27 - 3
7-117304820-CA-GG c.4042_4043delinsGG p.His1348Gly Missense 25/27 - 3
7-117304820-CAT-GAG c.4042_4044delinsGAG p.His1348Glu Missense 25/27 - 1
7-117304823-GG-AT c.4045_4046delinsAT p.Gly1349Ile Missense 25/27 - 1
7-117304824-G-A c.4046G>A p.Gly1349Asp Missense 25/27 - 100
7-117304828-C-G c.4050C>G p.His1350Gln Missense 25/27 - 1
7-117304828-C-A c.4050C>A p.His1350Gln Missense 25/27 - 1
7-117304832-CAG-TGT c.4054_4056delinsTGT p.Gln1352Cys Missense 25/27 - 1
7-117304834-G-T c.4056G>T p.Gln1352His Missense 25/27 - 15
7-117304834-G-C c.4056G>C p.Gln1352His Missense 25/27 - 22
7-117304835-T-A c.4057T>A p.Leu1353Met Missense 25/27 - 1
7-117304842-G-C c.4064G>C p.Cys1355Ser Missense 25/27 - 2
7-117304841-T-A c.4063T>A p.Cys1355Ser Missense 25/27 - 2
7-117304842-G-T c.4064G>T p.Cys1355Phe Missense 25/27 - 1
7-117304850-AG-GC c.4072_4073delinsGC p.Arg1358Ala Missense 25/27 - 2
7-117304852-A-T c.4074A>T p.Arg1358Ser Missense 25/27 - 1
7-117304852-A-C c.4074A>C p.Arg1358Ser Missense 25/27 - 1
7-117304853-T-G c.4075T>G p.Ser1359Ala Missense 25/27 - 4
7-117304875-T-C c.4097T>C p.Ile1366Thr Missense 25/27 - 1
7-117304877-TTG-ATC c.4099_4101delinsATC p.Leu1367Ile Missense 25/27 - 1
7-117304886-G-A c.4108G>A p.Asp1370Asn Missense 25/27 - 20
7-117304889-G-C c.4111G>C p.Glu1371Gln Missense 25/27 - 25
7-117304889-G-T c.4111G>T p.Glu1371* Nonsense 25/27 - 1
7-117304889-GA-TC c.4111_4112inv p.Glu1371Ser Missense 25/27 - 32
7-117304890-A-C c.4112A>C p.Glu1371Ala Missense 25/27 - 1
7-117304893-C-T c.4115C>T p.Pro1372Leu Missense 25/27 - 1
7-117304896-G-C c.4118G>C p.Ser1373Thr Missense 25/27 - 1
7-117304898-GC-TG c.4120_4121delinsTG p.Ala1374Cys Missense 25/27 - 2
7-117304901-CA-GC c.4123_4124delinsGC p.His1375Ala Missense 25/27 - 1
7-117304901-C-A c.4123C>A p.His1375Asn Missense 25/27 - 1
7-117304902-A-C c.4124A>C p.His1375Pro Missense 25/27 - 1
7-117305151-C-T c.4136+237C>T - IntronicSNV - 25/26 1
7-117305515-AC-A c.4139del p.Thr1380Asnfs*4 Frameshift 26/27 - 1
7-117305517-T-C c.4141T>C p.Tyr1381His Missense 26/27 - 1
7-117305517-T-G c.4141T>G p.Tyr1381Asp Missense 26/27 - 1
7-117305520-C-T c.4144C>T p.Gln1382* Nonsense 26/27 - 2
7-117305521-A-G c.4145A>G p.Gln1382Arg Missense 26/27 - 1
7-117305523-A-AA c.4147dup p.Ile1383Asnfs*3 Frameshift 26/27 - 1
7-117305523-AT-TA c.4147_4148delinsTA p.Ile1383* Nonsense 26/27 - 1
7-117305544-C-T c.4168C>T p.Gln1390* Nonsense 26/27 - 2
7-117305557-A-G c.4181A>G p.Asp1394Gly Missense 26/27 - 1
7-117305558-T-C c.4182T>C p.Asp1394Asp Synonymous 26/27 - 1
7-117305560-G-C c.4184G>C p.Cys1395Ser Missense 26/27 - 2
7-117305559-T-A c.4183T>A p.Cys1395Ser Missense 26/27 - 2
7-117305562-A-C c.4186A>C p.Thr1396Pro Missense 26/27 - 1
7-117305567-A-T c.4191A>T p.Val1397Val Synonymous 26/27 - 1
7-117305567-A-G c.4191A>G p.Val1397Val Synonymous 26/27 - 1
7-117305567-A-C c.4191A>C p.Val1397Val Synonymous 26/27 - 1
7-117305571-CTC-TAA c.4195_4197delinsTAA p.Leu1399* Nonsense 26/27 - 2
7-117305571-CT-AC c.4195_4196delinsAC p.Leu1399Thr Missense 26/27 - 1
7-117305574-TG-AT c.4198_4199delinsAT p.Cys1400Ile Missense 26/27 - 1
7-117305574-T-A c.4198T>A p.Cys1400Ser Missense 26/27 - 2
7-117305575-G-C c.4199G>C p.Cys1400Ser Missense 26/27 - 2
7-117305576-T-A c.4200T>A p.Cys1400* Nonsense 26/27 - 1
7-117305577-G-T c.4201G>T p.Glu1401* Nonsense 26/27 - 1
7-117305577-G-A c.4201G>A p.Glu1401Lys Missense 26/27 - 2
7-117305580-CA-GC c.4204_4205delinsGC p.His1402Ala Missense 26/27 - 6
7-117305580-CA-AG c.4204_4205delinsAG p.His1402Ser Missense 26/27 - 2
7-117305580-ACACA-A c.4204_4207del p.His1402Glyfs*2 Frameshift 26/27 - 1
7-117305583-A-G c.4207A>G p.Arg1403Gly Missense 26/27 - 1
7-117305583-AG-GC c.4207_4208delinsGC p.Arg1403Ala Missense 26/27 - 2
7-117305584-G-GCTGC c.4208_4209insCTGC p.Arg1403Serfs*60 Frameshift 26/27 - 1
7-117305588-A-T c.4212A>T p.Ile1404Ile Synonymous 26/27 - 1
7-117305588-A-C c.4212A>C p.Ile1404Ile Synonymous 26/27 - 1
7-117305596-T-C c.4220T>C p.Met1407Thr Missense 26/27 - 2
7-117305597-G-T c.4221G>T p.Met1407Ile Missense 26/27 - 1
7-117305597-G-A c.4221G>A p.Met1407Ile Missense 26/27 - 1
7-117305597-G-C c.4221G>C p.Met1407Ile Missense 26/27 - 1
7-117305601-G-A c.4225G>A p.Glu1409Lys Missense 26/27 - 2
7-117305603-A-T c.4227A>T p.Glu1409Asp Missense 26/27 - 1
7-117305603-A-C c.4227A>C p.Glu1409Asp Missense 26/27 - 1
7-117305605-G-C c.4229G>C p.Cys1410Ser Missense 26/27 - 2
7-117305604-T-A c.4228T>A p.Cys1410Ser Missense 26/27 - 2
7-117305606-C-A c.4230C>A p.Cys1410* Nonsense 26/27 - 1
7-117305607-CAA-GAC c.4231_4233delinsGAC p.Gln1411Asp Missense 26/27 - 2
7-117305607-C-T c.4231C>T p.Gln1411* Nonsense 26/27 - 1
7-117305610-C-T c.4234C>T p.Gln1412* Nonsense 26/27 - 19
7-117305613-T-A c.4237T>A p.Phe1413Ile Missense 26/27 - 1
7-117305619-G-T c.4242+1G>T - IntronicSNV - 26/26 1
7-117305619-G-A c.4242+1G>A - IntronicSNV - 26/26 2
7-117305628-T-C c.4242+10T>C - IntronicSNV - 26/26 1
7-117305631-A-G c.4242+13A>G - IntronicSNV - 26/26 3
7-117305676-C-A c.4242+58C>A - IntronicSNV - 26/26 1
7-117305816-T-C c.4242+198T>C - IntronicSNV - 26/26 1
7-117306909-C-T c.4243-53C>T - IntronicSNV - 26/26 1
7-117306927-TT-T c.4243-35del - IntronicDeletion - 26/26 1
7-117306946-A-G c.4243-16A>G - IntronicSNV - 26/26 1
7-117306957-C-T c.4243-5C>T - IntronicSNV - 26/26 2
7-117306962-G-GCTGT c.4243_4244insCTGT p.Val1415Alafs*48 SpliceAcceptorInsertion 27/27 - 1
7-117306962-GGTC-G c.4243_4245del p.Val1415del InFrameDeletion 27/27 - 1
7-117306967-A-G c.4248A>G p.Ile1416Met Missense 27/27 - 1
7-117306967-A-AT c.4248_4249insT p.Glu1417* Nonsense 27/27 - 1
7-117306970-AA-A c.4251del p.Glu1418Argfs*14 Frameshift 27/27 - 4
7-117306971-G-T c.4252G>T p.Glu1418* Nonsense 27/27 - 3
7-117306974-AAC-TAA c.4255_4257delinsTAA p.Asn1419* Nonsense 27/27 - 1
7-117306975-A-G c.4256A>G p.Asn1419Ser Missense 27/27 - 1
7-117306981-T-A c.4262T>A p.Val1421Glu Missense 27/27 - 1
7-117306989-TA-GC c.4270_4271delinsGC p.Tyr1424Ala Missense 27/27 - 2
7-117306991-C-T c.4272C>T p.Tyr1424Tyr Synonymous 27/27 - 3
7-117306992-GAT-TAA c.4273_4275delinsTAA p.Asp1425* Nonsense 27/27 - 2
7-117306996-C-T c.4277C>T p.Ser1426Phe Missense 27/27 - 1
7-117306998-AT-CC c.4279_4280delinsCC p.Ile1427Pro Missense 27/27 - 1
7-117307000-C-T c.4281C>T p.Ile1427Ile Synonymous 27/27 - 1
7-117307007-CT-GC c.4288_4289delinsGC p.Leu1430Ala Missense 27/27 - 1
7-117307011-T-C c.4292T>C p.Leu1431Pro Missense 27/27 - 1
7-117307015-C-G c.4296C>G p.Asn1432Lys Missense 27/27 - 1
7-117307015-C-A c.4296C>A p.Asn1432Lys Missense 27/27 - 1
7-117307016-G-A c.4297G>A p.Glu1433Lys Missense 27/27 - 1
7-117307025-CT-GA c.4306_4307delinsGA p.Leu1436Asp Missense 27/27 - 4
7-117307029-TC-AA c.4310_4311delinsAA p.Phe1437* Nonsense 27/27 - 1
7-117307031-CGG-TAT c.4312_4314delinsTAT p.Arg1438Tyr Missense 27/27 - 1
7-117307031-C-T c.4312C>T p.Arg1438Trp Missense 27/27 - 2
7-117307052-G-A c.4333G>A p.Asp1445Asn Missense 27/27 - 3
7-117307076-C-T c.4357C>T p.Arg1453Trp Missense 27/27 - 6
7-117307076-C-G c.4357C>G p.Arg1453Gly Missense 27/27 - 1
7-117307083-C-G c.4364C>G p.Ser1455* Nonsense 27/27 - 17
7-117307091-TG-GC c.4372_4373delinsGC p.Cys1458Ala Missense 27/27 - 1
7-117307091-T-A c.4372T>A p.Cys1458Ser Missense 27/27 - 3
7-117307092-G-C c.4373G>C p.Cys1458Ser Missense 27/27 - 3
7-117307095-A-G c.4376A>G p.Lys1459Arg Missense 27/27 - 1
7-117307100-A-G c.4381A>G p.Lys1461Glu Missense 27/27 - 1
7-117307106-C-T c.4387C>T p.Gln1463* Nonsense 27/27 - 1
7-117307108-G-A c.4389G>A p.Gln1463Gln Synonymous 27/27 - 13
7-117307122-A-G c.4403A>G p.Lys1468Arg Missense 27/27 - 1
7-117307130-ACA-GAC c.4411_4413delinsGAC p.Thr1471Asp Missense 27/27 - 2
7-117307130-A-G c.4411A>G p.Thr1471Ala Missense 27/27 - 3
7-117307139-G-T c.4420G>T p.Glu1474* Nonsense 27/27 - 1
7-117307140-A-C c.4421A>C p.Glu1474Ala Missense 27/27 - 1
7-117307142-G-A c.4423G>A p.Val1475Met Missense 27/27 - 3
7-117307145-C-T c.4426C>T p.Gln1476* Nonsense 27/27 - 7
7-117307152-C-G c.4433C>G p.Thr1478Arg Missense 27/27 - 2
7-117308043-C-T c.*881C>T - 3-UTRSNV 27/27 - 1
7-117308205-A-C c.*1043A>C - 3-UTRSNV 27/27 - 4
7-117308319-A-T c.*1157A>T - 3-UTRSNV 27/27 - 1
7-117308413-C-T c.*1251C>T - 3-UTRSNV 27/27 - 3
7-117308456-G-A c.*1294G>A - 3-UTRSNV 27/27 - 1
7-117308718-A-C c.*1556A>C - 3-UTRSNV 27/27 - 1