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 |