11-108093616-A-T |
c.-328A>T |
- |
5_prime_UTR_variant |
1/63 |
- |
2 |
11-108093616-A-G |
c.-328A>G |
- |
5_prime_UTR_variant |
1/63 |
- |
2 |
11-108093795-G-A |
c.-149G>A |
- |
5_prime_UTR_variant |
1/63 |
- |
1 |
11-108093796-G-A |
c.-148G>A |
- |
5_prime_UTR_variant |
1/63 |
- |
1 |
11-108093833-G-A |
c.-111G>A |
- |
5_prime_UTR_variant |
1/63 |
- |
50 |
11-108093881-G-C |
c.-63G>C |
- |
5_prime_UTR_variant |
1/63 |
- |
1 |
11-108093881-G-T |
c.-63G>T |
- |
5_prime_UTR_variant |
1/63 |
- |
1 |
11-108093886-A-C |
c.-58A>C |
- |
5_prime_UTR_variant |
1/63 |
- |
1 |
11-108094211-C-G |
c.-31+298C>G |
- |
intron_variant |
- |
1/62 |
1 |
11-108094217-T-C |
c.-31+304T>C |
- |
intron_variant |
- |
1/62 |
1 |
11-108094218-T-C |
c.-31+305T>C |
- |
intron_variant |
- |
1/62 |
1 |
11-108094224-C-T |
c.-31+311C>T |
- |
intron_variant |
- |
1/62 |
1 |
11-108094774-C-T |
c.-31+861C>T |
- |
intron_variant |
- |
1/62 |
1 |
11-108094787-A-G |
c.-31+874A>G |
- |
intron_variant |
- |
1/62 |
1 |
11-108095220-A-G |
c.-31+1307A>G |
- |
intron_variant |
- |
1/62 |
1 |
11-108095836-T-C |
c.-31+1923T>C |
- |
intron_variant |
- |
1/62 |
1 |
11-108096053-A-T |
c.-31+2140A>T |
- |
intron_variant |
- |
1/62 |
2 |
11-108096141-A-G |
c.-30-2181A>G |
- |
IntronicSNV |
- |
1/62 |
7 |
11-108096285-C-G |
c.-30-2037C>G |
- |
IntronicSNV |
- |
1/62 |
1 |
11-108096285-C-T |
c.-30-2037C>T |
- |
IntronicSNV |
- |
1/62 |
1 |
11-108097333-A-G |
c.-30-989A>G |
- |
IntronicSNV |
- |
1/62 |
3 |
11-108098108-T-A |
c.-244T>A |
- |
IntronicSNV |
1/63 |
- |
1 |
11-108098202-A-C |
c.-150A>C |
- |
IntronicSNV |
1/63 |
- |
1 |
11-108098205-T-C |
c.-147T>C |
- |
IntronicSNV |
1/63 |
- |
1 |
11-108098352-A-G |
c.1A>G |
p.Met1? |
Missense |
2/63 |
- |
1 |
11-108098353-T-C |
c.2T>C |
p.Met1? |
Missense |
2/63 |
- |
3 |
11-108098355-GAGT-G |
c.4_6del |
p.Ser2del |
InFrameDeletion |
2/63 |
- |
1 |
11-108098382-TG-GC |
c.31_32delinsGC |
p.Cys11Ala |
Missense |
2/63 |
- |
2 |
11-108098383-G-T |
c.32G>T |
p.Cys11Phe |
Missense |
2/63 |
- |
1 |
11-108098384-C-T |
c.33C>T |
p.Cys11Cys |
Synonymous |
2/63 |
- |
1 |
11-108098385-T-C |
c.34T>C |
p.Cys12Arg |
Missense |
2/63 |
- |
3 |
11-108098385-TG-GC |
c.34_35delinsGC |
p.Cys12Ala |
Missense |
2/63 |
- |
1 |
11-108098385-TG-CA |
c.34_35inv |
p.Cys12His |
Missense |
2/63 |
- |
1 |
11-108098385-TGC-ATG |
c.34_36delinsATG |
p.Cys12Met |
Missense |
2/63 |
- |
1 |
11-108098386-G-T |
c.35G>T |
p.Cys12Phe |
Missense |
2/63 |
- |
1 |
11-108098388-C-T |
c.37C>T |
p.Arg13Cys |
Missense |
2/63 |
- |
1 |
11-108098389-G-A |
c.38G>A |
p.Arg13His |
Missense |
2/63 |
- |
1 |
11-108098391-CAA-GAC |
c.40_42delinsGAC |
p.Gln14Asp |
Missense |
2/63 |
- |
1 |
11-108098392-CAAC-C |
c.41_43del |
p.Gln14del |
InFrameDeletion |
2/63 |
- |
2 |
11-108098392-A-G |
c.41A>G |
p.Gln14Arg |
Missense |
2/63 |
- |
1 |
11-108098394-AC-A |
c.43del |
p.Leu15* |
Frameshift |
2/63 |
- |
1 |
11-108098395-T-G |
c.44T>G |
p.Leu15Arg |
Missense |
2/63 |
- |
2 |
11-108098402-T-A |
c.51T>A |
p.His17Gln |
Missense |
2/63 |
- |
1 |
11-108098402-T-G |
c.51T>G |
p.His17Gln |
Missense |
2/63 |
- |
1 |
11-108098403-G-A |
c.52G>A |
p.Asp18Asn |
Missense |
2/63 |
- |
1 |
11-108098403-TGATAGAGCTACAGAACGAAAGGTAGTAAAT-T |
c.52_72+9del |
- |
SpliceDonorDeletion |
2/63 |
2/62 |
1 |
11-108098406-AG-GC |
c.55_56delinsGC |
p.Arg19Ala |
Missense |
2/63 |
- |
1 |
11-108098409-G-A |
c.58G>A |
p.Ala20Thr |
Missense |
2/63 |
- |
1 |
11-108098410-CT-AG |
c.59_60inv |
p.Ala20Glu |
Missense |
2/63 |
- |
1 |
11-108098411-T-G |
c.60T>G |
p.Ala20Ala |
Synonymous |
2/63 |
- |
1 |
11-108098411-T-C |
c.60T>C |
p.Ala20Ala |
Synonymous |
2/63 |
- |
1 |
11-108098411-T-A |
c.60T>A |
p.Ala20Ala |
Synonymous |
2/63 |
- |
1 |
11-108098412-A-G |
c.61A>G |
p.Thr21Ala |
Missense |
2/63 |
- |
4 |
11-108098412-ACA-GAC |
c.61_63delinsGAC |
p.Thr21Asp |
Missense |
2/63 |
- |
1 |
11-108098412-AC-GT |
c.61_62inv |
p.Thr21Val |
Missense |
2/63 |
- |
1 |
11-108098413-CA-AC |
c.62_63delinsAC |
p.Thr21Asn |
Missense |
2/63 |
- |
1 |
11-108098415-GAA-TGT |
c.64_66delinsTGT |
p.Glu22Cys |
Missense |
2/63 |
- |
1 |
11-108098418-C-T |
c.67C>T |
p.Arg23* |
Nonsense |
2/63 |
- |
2 |
11-108098418-C-G |
c.67C>G |
p.Arg23Gly |
Missense |
2/63 |
- |
1 |
11-108098501-A-G |
c.73-2A>G |
- |
IntronicSNV |
- |
2/62 |
1 |
11-108098503-AA-GC |
c.73_74delinsGC |
p.Lys25Ala |
Missense |
3/63 |
- |
1 |
11-108098508-A-G |
c.78A>G |
p.Glu26Glu |
Synonymous |
3/63 |
- |
1 |
11-108098515-A-T |
c.85A>T |
p.Lys29* |
Nonsense |
3/63 |
- |
1 |
11-108098516-A-G |
c.86A>G |
p.Lys29Arg |
Missense |
3/63 |
- |
2 |
11-108098521-AA-GC |
c.91_92delinsGC |
p.Lys31Ala |
Missense |
3/63 |
- |
1 |
11-108098522-A-G |
c.92A>G |
p.Lys31Arg |
Missense |
3/63 |
- |
2 |
11-108098523-G-A |
c.93G>A |
p.Lys31Lys |
Synonymous |
3/63 |
- |
1 |
11-108098524-C-G |
c.94C>G |
p.Arg32Gly |
Missense |
3/63 |
- |
1 |
11-108098524-C-T |
c.94C>T |
p.Arg32Cys |
Missense |
3/63 |
- |
3 |
11-108098524-CG-GC |
c.94_95delinsGC |
p.Arg32Ala |
Missense |
3/63 |
- |
1 |
11-108098525-GC-AA |
c.95_96delinsAA |
p.Arg32Gln |
Missense |
3/63 |
- |
1 |
11-108098529-G-C |
c.99G>C |
p.Leu33Leu |
Synonymous |
3/63 |
- |
1 |
11-108098533-C-T |
c.103C>T |
p.Arg35* |
Nonsense |
3/63 |
- |
8 |
11-108098534-G-A |
c.104G>A |
p.Arg35Gln |
Missense |
3/63 |
- |
1 |
11-108098541-T-G |
c.111T>G |
p.Pro37Pro |
Synonymous |
3/63 |
- |
1 |
11-108098541-T-A |
c.111T>A |
p.Pro37Pro |
Synonymous |
3/63 |
- |
1 |
11-108098541-T-C |
c.111T>C |
p.Pro37Pro |
Synonymous |
3/63 |
- |
1 |
11-108098542-G-A |
c.112G>A |
p.Glu38Lys |
Missense |
3/63 |
- |
2 |
11-108098545-A-G |
c.115A>G |
p.Thr39Ala |
Missense |
3/63 |
- |
1 |
11-108098548-A-G |
c.118A>G |
p.Ile40Val |
Missense |
3/63 |
- |
1 |
11-108098551-AA-GC |
c.121_122delinsGC |
p.Lys41Ala |
Missense |
3/63 |
- |
2 |
11-108098555-A-G |
c.125A>G |
p.His42Arg |
Missense |
3/63 |
- |
1 |
11-108098560-G-A |
c.130G>A |
p.Asp44Asn |
Missense |
3/63 |
- |
3 |
11-108098561-A-G |
c.131A>G |
p.Asp44Gly |
Missense |
3/63 |
- |
1 |
11-108098563-C-T |
c.133C>T |
p.Arg45Trp |
Missense |
3/63 |
- |
1 |
11-108098564-G-A |
c.134G>A |
p.Arg45Gln |
Missense |
3/63 |
- |
1 |
11-108098565-G-C |
c.135G>C |
p.Arg45Arg |
Synonymous |
3/63 |
- |
1 |
11-108098569-T-G |
c.139T>G |
p.Ser47Ala |
Missense |
3/63 |
- |
4 |
11-108098576-C-T |
c.146C>T |
p.Ser49Phe |
Missense |
3/63 |
- |
13 |
11-108098576-C-G |
c.146C>G |
p.Ser49Cys |
Missense |
3/63 |
- |
41 |
11-108098583-A-C |
c.153A>C |
p.Gln51His |
Missense |
3/63 |
- |
1 |
11-108098583-A-T |
c.153A>T |
p.Gln51His |
Missense |
3/63 |
- |
1 |
11-108098590-T-C |
c.160T>C |
p.Tyr54His |
Missense |
3/63 |
- |
1 |
11-108098592-T-C |
c.162T>C |
p.Tyr54Tyr |
Synonymous |
3/63 |
- |
3 |
11-108098600-G-A |
c.170G>A |
p.Trp57* |
Nonsense |
3/63 |
- |
9 |
11-108098602-G-A |
c.172G>A |
p.Asp58Asn |
Missense |
3/63 |
- |
1 |
11-108098614-AG-CC |
c.184_185delinsCC |
p.Arg62Pro |
Missense |
3/63 |
- |
1 |
11-108098614-AG-GC |
c.184_185delinsGC |
p.Arg62Ala |
Missense |
3/63 |
- |
1 |
11-108098615-G-A |
c.185G>A |
p.Arg62Lys |
Missense |
3/63 |
- |
1 |
11-108099898-C-T |
c.186-7C>T |
- |
IntronicSNV |
- |
3/62 |
1 |
11-108099909-TT-GC |
c.190_191delinsGC |
p.Leu64Ala |
Missense |
4/63 |
- |
1 |
11-108099912-C-T |
c.193C>T |
p.Gln65* |
Nonsense |
4/63 |
- |
1 |
11-108099912-CA-GC |
c.193_194delinsGC |
p.Gln65Ala |
Missense |
4/63 |
- |
1 |
11-108099913-A-C |
c.194A>C |
p.Gln65Pro |
Missense |
4/63 |
- |
1 |
11-108099913-A-G |
c.194A>G |
p.Gln65Arg |
Missense |
4/63 |
- |
7 |
11-108099921-A-G |
c.202A>G |
p.Ile68Val |
Missense |
4/63 |
- |
1 |
11-108099937-A-G |
c.218A>G |
p.Glu73Gly |
Missense |
4/63 |
- |
1 |
11-108099939-TG-GC |
c.220_221delinsGC |
p.Cys74Ala |
Missense |
4/63 |
- |
1 |
11-108099939-T-G |
c.220T>G |
p.Cys74Gly |
Missense |
4/63 |
- |
1 |
11-108099945-AG-CA |
c.226_227delinsCA |
p.Arg76Gln |
Missense |
4/63 |
- |
1 |
11-108099951-G-A |
c.232G>A |
p.Ala78Thr |
Missense |
4/63 |
- |
2 |
11-108099954-AA-GC |
c.235_236delinsGC |
p.Lys79Ala |
Missense |
4/63 |
- |
2 |
11-108099955-A-G |
c.236A>G |
p.Lys79Arg |
Missense |
4/63 |
- |
2 |
11-108099956-AA-A |
c.237del |
p.Lys79Asnfs*37 |
Frameshift |
4/63 |
- |
1 |
11-108099960-A-G |
c.241A>G |
p.Asn81Asp |
Missense |
4/63 |
- |
1 |
11-108099961-A-AA |
c.242dup |
p.Asn81Lysfs*19 |
Frameshift |
4/63 |
- |
1 |
11-108099966-TC-AT |
c.247_248delinsAT |
p.Ser83Ile |
Missense |
4/63 |
- |
5 |
11-108099967-CA-AT |
c.248_249delinsAT |
p.Ser83Tyr |
Missense |
4/63 |
- |
1 |
11-108099967-C-T |
c.248C>T |
p.Ser83Leu |
Missense |
4/63 |
- |
10 |
11-108099969-G-T |
c.250G>T |
p.Ala84Ser |
Missense |
4/63 |
- |
1 |
11-108099970-CC-AG |
c.251_252delinsAG |
p.Ala84Glu |
Missense |
4/63 |
- |
1 |
11-108099972-T-G |
c.253T>G |
p.Ser85Ala |
Missense |
4/63 |
- |
4 |
11-108099972-TCA-GAC |
c.253_255delinsGAC |
p.Ser85Asp |
Missense |
4/63 |
- |
1 |
11-108099975-A-G |
c.256A>G |
p.Thr86Ala |
Missense |
4/63 |
- |
3 |
11-108099975-AC-GA |
c.256_257delinsGA |
p.Thr86Glu |
Missense |
4/63 |
- |
1 |
11-108099987-A-G |
c.268A>G |
p.Arg90Gly |
Missense |
4/63 |
- |
1 |
11-108099988-GG-AC |
c.269_270delinsAC |
p.Arg90Asn |
Missense |
4/63 |
- |
1 |
11-108099988-G-A |
c.269G>A |
p.Arg90Lys |
Missense |
4/63 |
- |
2 |
11-108099993-AA-GC |
c.274_275delinsGC |
p.Lys92Ala |
Missense |
4/63 |
- |
1 |
11-108099994-A-C |
c.275A>C |
p.Lys92Thr |
Missense |
4/63 |
- |
1 |
11-108100011-AG-GC |
c.292_293delinsGC |
p.Ser98Ala |
Missense |
4/63 |
- |
1 |
11-108100014-AG-GC |
c.295_296delinsGC |
p.Ser99Ala |
Missense |
4/63 |
- |
2 |
11-108100014-A-G |
c.295A>G |
p.Ser99Gly |
Missense |
4/63 |
- |
1 |
11-108100017-TTG-GAC |
c.298_300delinsGAC |
p.Leu100Asp |
Missense |
4/63 |
- |
1 |
11-108100032-A-G |
c.313A>G |
p.Ile105Val |
Missense |
4/63 |
- |
1 |
11-108100051-G-A |
c.331+1G>A |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108101919-C-T |
c.331+1869C>T |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108104525-A-G |
c.332-1872A>G |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108105593-G-A |
c.332-804G>A |
- |
IntronicSNV |
- |
4/62 |
3 |
11-108105928-T-C |
c.332-469T>C |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108105928-T-G |
c.332-469T>G |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108106326-A-G |
c.332-71A>G |
- |
IntronicSNV |
- |
4/62 |
1 |
11-108106397-G-A |
c.332G>A |
p.Arg111Lys |
Missense |
5/63 |
- |
1 |
11-108106398-A-AA |
c.333dup |
p.Ala112Serfs*3 |
SpliceAcceptorInsertion |
5/63 |
- |
1 |
11-108106401-A-AA |
c.336dup |
p.Pro113Thrfs*2 |
Frameshift |
5/63 |
- |
1 |
11-108106406-G-A |
c.341G>A |
p.Arg114Lys |
Missense |
5/63 |
- |
1 |
11-108106410-A-AT |
c.345_346insT |
p.Lys116* |
Nonsense |
5/63 |
- |
1 |
11-108106413-A-T |
c.348A>T |
p.Lys116Asn |
Missense |
5/63 |
- |
1 |
11-108106413-A-C |
c.348A>C |
p.Lys116Asn |
Missense |
5/63 |
- |
1 |
11-108106417-C-T |
c.352C>T |
p.Gln118* |
Nonsense |
5/63 |
- |
1 |
11-108106423-CTC-GAG |
c.358_360inv |
p.Leu120Glu |
Missense |
5/63 |
- |
1 |
11-108106430-A-G |
c.365A>G |
p.Asn122Ser |
Missense |
5/63 |
- |
3 |
11-108106435-A-G |
c.370A>G |
p.Ile124Val |
Missense |
5/63 |
- |
1 |
11-108106442-A-G |
c.377A>G |
p.Asp126Gly |
Missense |
5/63 |
- |
1 |
11-108106443-AT-A |
c.378del |
p.Asp126Glufs*3 |
Frameshift |
5/63 |
- |
1 |
11-108106443-T-A |
c.378T>A |
p.Asp126Glu |
Missense |
5/63 |
- |
14 |
11-108106446-A-C |
c.381A>C |
p.Thr127Thr |
Synonymous |
5/63 |
- |
1 |
11-108106446-A-G |
c.381A>G |
p.Thr127Thr |
Synonymous |
5/63 |
- |
1 |
11-108106446-A-T |
c.381A>T |
p.Thr127Thr |
Synonymous |
5/63 |
- |
1 |
11-108106446-CA-C |
c.381del |
p.Val128* |
Frameshift |
5/63 |
- |
4 |
11-108106450-AA-GC |
c.385_386delinsGC |
p.Lys129Ala |
Missense |
5/63 |
- |
1 |
11-108106451-AA-TG |
c.386_387delinsTG |
p.Lys129Met |
Missense |
5/63 |
- |
1 |
11-108106451-A-C |
c.386A>C |
p.Lys129Thr |
Missense |
5/63 |
- |
1 |
11-108106454-A-T |
c.389A>T |
p.Asp130Val |
Missense |
5/63 |
- |
2 |
11-108106454-A-C |
c.389A>C |
p.Asp130Ala |
Missense |
5/63 |
- |
13 |
11-108106456-T-G |
c.391T>G |
p.Ser131Ala |
Missense |
5/63 |
- |
2 |
11-108106457-CA-TT |
c.392_393delinsTT |
p.Ser131Phe |
Missense |
5/63 |
- |
1 |
11-108106459-T-G |
c.394T>G |
p.Ser132Ala |
Missense |
5/63 |
- |
1 |
11-108106463-A-G |
c.398A>G |
p.Asn133Ser |
Missense |
5/63 |
- |
1 |
11-108106466-G-A |
c.401G>A |
p.Gly134Asp |
Missense |
5/63 |
- |
1 |
11-108106469-C-T |
c.404C>T |
p.Ala135Val |
Missense |
5/63 |
- |
2 |
11-108106477-G-A |
c.412G>A |
p.Gly138Arg |
Missense |
5/63 |
- |
1 |
11-108106477-G-C |
c.412G>C |
p.Gly138Arg |
Missense |
5/63 |
- |
1 |
11-108106478-G-C |
c.413G>C |
p.Gly138Ala |
Missense |
5/63 |
- |
1 |
11-108106483-G-C |
c.418G>C |
p.Asp140His |
Missense |
5/63 |
- |
1 |
11-108106499-T-G |
c.434T>G |
p.Leu145Arg |
Missense |
5/63 |
- |
2 |
11-108106504-A-G |
c.439A>G |
p.Lys147Glu |
Missense |
5/63 |
- |
1 |
11-108106507-GAC-CAA |
c.442_444delinsCAA |
p.Asp148Gln |
Missense |
5/63 |
- |
1 |
11-108106508-A-C |
c.443A>C |
p.Asp148Ala |
Missense |
5/63 |
- |
3 |
11-108106509-C-G |
c.444C>G |
p.Asp148Glu |
Missense |
5/63 |
- |
5 |
11-108106509-C-A |
c.444C>A |
p.Asp148Glu |
Missense |
5/63 |
- |
5 |
11-108106510-CATT-C |
c.445_447del |
p.Ile149del |
InFrameDeletion |
5/63 |
- |
1 |
11-108106514-T-C |
c.449T>C |
p.Leu150Pro |
Missense |
5/63 |
- |
1 |
11-108106515-TTTCT-T |
c.450_453del |
p.Ser151* |
Frameshift |
5/63 |
- |
1 |
11-108106516-TC-GA |
c.451_452inv |
p.Ser151Asp |
Missense |
5/63 |
- |
1 |
11-108106516-T-G |
c.451T>G |
p.Ser151Ala |
Missense |
5/63 |
- |
2 |
11-108106522-A-G |
c.457A>G |
p.Arg153Gly |
Missense |
5/63 |
- |
1 |
11-108106530-C-A |
c.465C>A |
p.Tyr155* |
Nonsense |
5/63 |
- |
1 |
11-108106530-C-G |
c.465C>G |
p.Tyr155* |
Nonsense |
5/63 |
- |
1 |
11-108106533-G-A |
c.468G>A |
p.Trp156* |
Nonsense |
5/63 |
- |
2 |
11-108106534-TG-AC |
c.469_470delinsAC |
p.Cys157Thr |
Missense |
5/63 |
- |
3 |
11-108106543-ATCTCA-A |
c.478_482del |
p.Ser160Alafs*23 |
Frameshift |
5/63 |
- |
2 |
11-108106543-T-C |
c.478T>C |
p.Ser160Pro |
Missense |
5/63 |
- |
1 |
11-108106543-T-G |
c.478T>G |
p.Ser160Ala |
Missense |
5/63 |
- |
1 |
11-108106545-CTCAGC-C |
c.480_484del |
p.Gln161Thrfs*22 |
Frameshift |
5/63 |
- |
1 |
11-108106549-C-T |
c.484C>T |
p.Gln162* |
Nonsense |
5/63 |
- |
1 |
11-108106552-C-T |
c.487C>T |
p.Gln163* |
Nonsense |
5/63 |
- |
2 |
11-108106555-TG-GC |
c.490_491delinsGC |
p.Trp164Ala |
Missense |
5/63 |
- |
2 |
11-108106556-G-C |
c.491G>C |
p.Trp164Ser |
Missense |
5/63 |
- |
2 |
11-108106557-G-T |
c.492G>T |
p.Trp164Cys |
Missense |
5/63 |
- |
1 |
11-108106558-TTA-AAC |
c.493_495delinsAAC |
p.Leu165Asn |
Missense |
5/63 |
- |
1 |
11-108106565-T-C |
c.496+4T>C |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108106566-G-A |
c.496+5G>A |
- |
IntronicSNV |
- |
5/62 |
2 |
11-108106782-C-T |
c.496+221C>T |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108106782-C-A |
c.496+221C>A |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108107009-G-A |
c.496+448G>A |
- |
IntronicSNV |
- |
5/62 |
2 |
11-108107009-G-T |
c.496+448G>T |
- |
IntronicSNV |
- |
5/62 |
2 |
11-108107497-T-G |
c.496+936T>G |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108107660-G-A |
c.496+1099G>A |
- |
IntronicSNV |
- |
5/62 |
3 |
11-108107660-G-C |
c.496+1099G>C |
- |
IntronicSNV |
- |
5/62 |
3 |
11-108112978-G-T |
c.497-1702G>T |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108113564-A-G |
c.497-1116A>G |
- |
IntronicSNV |
- |
5/62 |
1 |
11-108114680-A-C |
c.497A>C |
p.Glu166Ala |
Missense |
6/63 |
- |
2 |
11-108114682-T-G |
c.499T>G |
p.Leu167Val |
Missense |
6/63 |
- |
1 |
11-108114695-A-G |
c.512A>G |
p.Tyr171Cys |
Missense |
6/63 |
- |
2 |
11-108114696-C-T |
c.513C>T |
p.Tyr171Tyr |
Synonymous |
6/63 |
- |
2 |
11-108114696-C-G |
c.513C>G |
p.Tyr171* |
Nonsense |
6/63 |
- |
1 |
11-108114696-C-A |
c.513C>A |
p.Tyr171* |
Nonsense |
6/63 |
- |
1 |
11-108114697-T-A |
c.514T>A |
p.Phe172Ile |
Missense |
6/63 |
- |
1 |
11-108114701-G-A |
c.518G>A |
p.Arg173Lys |
Missense |
6/63 |
- |
1 |
11-108114704-T-C |
c.521T>C |
p.Leu174Pro |
Missense |
6/63 |
- |
1 |
11-108114710-T-G |
c.527T>G |
p.Leu176Arg |
Missense |
6/63 |
- |
1 |
11-108114718-TC-GA |
c.535_536inv |
p.Ser179Glu |
Missense |
6/63 |
- |
1 |
11-108114727-G-A |
c.544G>A |
p.Val182Ile |
Missense |
6/63 |
- |
1 |
11-108114731-A-T |
c.548A>T |
p.His183Leu |
Missense |
6/63 |
- |
1 |
11-108114749-G-A |
c.566G>A |
p.Arg189Lys |
Missense |
6/63 |
- |
6 |
11-108114749-G-C |
c.566G>C |
p.Arg189Thr |
Missense |
6/63 |
- |
1 |
11-108114752-T-A |
c.569T>A |
p.Ile190Lys |
Missense |
6/63 |
- |
1 |
11-108114763-G-T |
c.580G>T |
p.Val194Phe |
Missense |
6/63 |
- |
1 |
11-108114766-A-G |
c.583A>G |
p.Thr195Ala |
Missense |
6/63 |
- |
2 |
11-108114766-A-AA |
c.583dup |
p.Thr195Asnfs*9 |
Frameshift |
6/63 |
- |
1 |
11-108114766-ACC-GAG |
c.583_585delinsGAG |
p.Thr195Glu |
Missense |
6/63 |
- |
1 |
11-108114769-AA-GC |
c.586_587delinsGC |
p.Lys196Ala |
Missense |
6/63 |
- |
1 |
11-108114772-GGA-AGC |
c.589_591delinsAGC |
p.Gly197Ser |
Missense |
6/63 |
- |
1 |
11-108114781-TC-GA |
c.598_599inv |
p.Ser200Asp |
Missense |
6/63 |
- |
1 |
11-108114784-C-T |
c.601C>T |
p.Gln201* |
Nonsense |
6/63 |
- |
1 |
11-108114791-A-C |
c.608A>C |
p.Asp203Ala |
Missense |
6/63 |
- |
2 |
11-108114793-G-T |
c.610G>T |
p.Gly204* |
Nonsense |
6/63 |
- |
1 |
11-108114812-T-G |
c.629T>G |
p.Leu210Trp |
Missense |
6/63 |
- |
1 |
11-108114823-T-G |
c.640T>G |
p.Ser214Ala |
Missense |
6/63 |
- |
1 |
11-108114823-T-C |
c.640T>C |
p.Ser214Pro |
Missense |
6/63 |
- |
1 |
11-108114823-TCC-GAG |
c.640_642delinsGAG |
p.Ser214Glu |
Missense |
6/63 |
- |
1 |
11-108114823-TT-T |
c.640del |
p.Ser214Profs*16 |
Frameshift |
6/63 |
- |
1 |
11-108114826-A-C |
c.643A>C |
p.Lys215Gln |
Missense |
6/63 |
- |
1 |
11-108114827-A-G |
c.644A>G |
p.Lys215Arg |
Missense |
6/63 |
- |
1 |
11-108114832-AT-GC |
c.649_650delinsGC |
p.Ile217Ala |
Missense |
6/63 |
- |
1 |
11-108114835-C-T |
c.652C>T |
p.Gln218* |
Nonsense |
6/63 |
- |
1 |
11-108114840-T-C |
c.657T>C |
p.Cys219Cys |
Synonymous |
6/63 |
- |
3 |
11-108114842-C-T |
c.659C>T |
p.Ala220Val |
Missense |
6/63 |
- |
2 |
11-108115515-GACAAGAAAAGAGCTCTTCAGGTCTAAATCATATCTTAGCAGCTCTTACTATCTTCCTCA-G |
c.664_722del |
p.Gln222Aspfs*12 |
Unclassified |
7/63 |
- |
1 |
11-108115522-A-G |
c.670A>G |
p.Lys224Glu |
Missense |
7/63 |
- |
3 |
11-108115525-AG-GC |
c.673_674delinsGC |
p.Ser225Ala |
Missense |
7/63 |
- |
1 |
11-108115528-T-G |
c.676T>G |
p.Ser226Ala |
Missense |
7/63 |
- |
1 |
11-108115541-A-G |
c.689A>G |
p.Asn230Ser |
Missense |
7/63 |
- |
1 |
11-108115561-A-G |
c.709A>G |
p.Thr237Ala |
Missense |
7/63 |
- |
2 |
11-108115580-T-C |
c.728T>C |
p.Leu243Ser |
Missense |
7/63 |
- |
2 |
11-108115587-C-G |
c.735C>G |
p.Val245Val |
Synonymous |
7/63 |
- |
4 |
11-108115587-C-T |
c.735C>T |
p.Val245Val |
Synonymous |
7/63 |
- |
7 |
11-108115593-T-TT |
c.741dup |
p.Arg248Serfs*6 |
Frameshift |
7/63 |
- |
1 |
11-108115594-CGA-TGG |
c.742_744delinsTGG |
p.Arg248Trp |
Missense |
7/63 |
- |
2 |
11-108115594-CG-GA |
c.742_743delinsGA |
p.Arg248Glu |
Missense |
7/63 |
- |
1 |
11-108115594-C-T |
c.742C>T |
p.Arg248* |
Nonsense |
7/63 |
- |
5 |
11-108115595-G-T |
c.743G>T |
p.Arg248Leu |
Missense |
7/63 |
- |
1 |
11-108115600-CGA-TGG |
c.748_750delinsTGG |
p.Arg250Trp |
Missense |
7/63 |
- |
1 |
11-108115600-C-T |
c.748C>T |
p.Arg250* |
Nonsense |
7/63 |
- |
5 |
11-108115612-TT-CC |
c.760_761delinsCC |
p.Leu254Pro |
Missense |
7/63 |
- |
3 |
11-108115627-C-T |
c.775C>T |
p.Leu259Phe |
Missense |
7/63 |
- |
1 |
11-108115630-C-A |
c.778C>A |
p.Pro260Thr |
Missense |
7/63 |
- |
1 |
11-108115639-CTT-GAG |
c.787_789delinsGAG |
p.Leu263Glu |
Missense |
7/63 |
- |
3 |
11-108115639-CT-GC |
c.787_788delinsGC |
p.Leu263Ala |
Missense |
7/63 |
- |
1 |
11-108115639-CT-AG |
c.787_788inv |
p.Leu263Ser |
Missense |
7/63 |
- |
1 |
11-108115642-TT-T |
c.790del |
p.Tyr264Ilefs*12 |
Frameshift |
7/63 |
- |
2 |
11-108115650-G-A |
c.798G>A |
p.Trp266* |
Nonsense |
7/63 |
- |
1 |
11-108115649-G-A |
c.797G>A |
p.Trp266* |
Nonsense |
7/63 |
- |
1 |
11-108115660-A-T |
c.808A>T |
p.Arg270Trp |
Missense |
7/63 |
- |
1 |
11-108115660-AGG-CAT |
c.808_810delinsCAT |
p.Arg270His |
Missense |
7/63 |
- |
15 |
11-108115669-G-A |
c.817G>A |
p.Asp273Asn |
Missense |
7/63 |
- |
1 |
11-108115669-GA-CG |
c.817_818delinsCG |
p.Asp273Arg |
Missense |
7/63 |
- |
2 |
11-108115670-A-C |
c.818A>C |
p.Asp273Ala |
Missense |
7/63 |
- |
1 |
11-108115676-TT-T |
c.824del |
p.Leu275* |
Frameshift |
7/63 |
- |
2 |
11-108115678-AA-GC |
c.826_827delinsGC |
p.Lys276Ala |
Missense |
7/63 |
- |
1 |
11-108115678-A-C |
c.826A>C |
p.Lys276Gln |
Missense |
7/63 |
- |
1 |
11-108115681-G-T |
c.829G>T |
p.Glu277* |
Nonsense |
7/63 |
- |
2 |
11-108115688-T-C |
c.836T>C |
p.Ile279Thr |
Missense |
7/63 |
- |
1 |
11-108115715-A-G |
c.863A>G |
p.Tyr288Cys |
Missense |
7/63 |
- |
8 |
11-108115727-C-T |
c.875C>T |
p.Pro292Leu |
Missense |
7/63 |
- |
2 |
11-108115730-A-C |
c.878A>C |
p.Lys293Thr |
Missense |
7/63 |
- |
1 |
11-108115738-A-C |
c.886A>C |
p.Lys296Gln |
Missense |
7/63 |
- |
1 |
11-108115739-A-G |
c.887A>G |
p.Lys296Arg |
Missense |
7/63 |
- |
1 |
11-108115741-A-G |
c.889A>G |
p.Thr297Ala |
Missense |
7/63 |
- |
1 |
11-108115741-ACC-GAG |
c.889_891delinsGAG |
p.Thr297Glu |
Missense |
7/63 |
- |
1 |
11-108115742-CC-AG |
c.890_891delinsAG |
p.Thr297Lys |
Missense |
7/63 |
- |
1 |
11-108115754-G-A |
c.901+1G>A |
- |
IntronicSNV |
- |
7/62 |
1 |
11-108116482-A-C |
c.901+729A>C |
- |
IntronicSNV |
- |
7/62 |
1 |
11-108117335-C-T |
c.902-356C>T |
- |
IntronicSNV |
- |
7/62 |
6 |
11-108117697-A-C |
c.908A>C |
p.Tyr303Ser |
Missense |
8/63 |
- |
1 |
11-108117712-G-A |
c.923G>A |
p.Trp308* |
Nonsense |
8/63 |
- |
1 |
11-108117713-G-A |
c.924G>A |
p.Trp308* |
Nonsense |
8/63 |
- |
1 |
11-108117717-AG-TT |
c.928_929delinsTT |
p.Ser310Phe |
Missense |
8/63 |
- |
2 |
11-108117728-C-A |
c.939C>A |
p.Tyr313* |
Nonsense |
8/63 |
- |
2 |
11-108117735-T-C |
c.946T>C |
p.Tyr316His |
Missense |
8/63 |
- |
1 |
11-108117745-T-G |
c.956T>G |
p.Leu319Arg |
Missense |
8/63 |
- |
1 |
11-108117755-G-C |
c.966G>C |
p.Glu322Asp |
Missense |
8/63 |
- |
1 |
11-108117755-G-T |
c.966G>T |
p.Glu322Asp |
Missense |
8/63 |
- |
1 |
11-108117756-A-G |
c.967A>G |
p.Ile323Val |
Missense |
8/63 |
- |
1 |
11-108117759-AG-GC |
c.970_971delinsGC |
p.Ser324Ala |
Missense |
8/63 |
- |
1 |
11-108117766-T-C |
c.977T>C |
p.Ile326Thr |
Missense |
8/63 |
- |
1 |
11-108117768-G-A |
c.979G>A |
p.Gly327Arg |
Missense |
8/63 |
- |
1 |
11-108117771-AG-GA |
c.982_983delinsGA |
p.Ser328Asp |
Missense |
8/63 |
- |
1 |
11-108117771-AG-GC |
c.982_983delinsGC |
p.Ser328Ala |
Missense |
8/63 |
- |
5 |
11-108117777-G-A |
c.988G>A |
p.Gly330Arg |
Missense |
8/63 |
- |
1 |
11-108117777-G-C |
c.988G>C |
p.Gly330Arg |
Missense |
8/63 |
- |
1 |
11-108117779-A-G |
c.990A>G |
p.Gly330Gly |
Synonymous |
8/63 |
- |
1 |
11-108117780-AA-GC |
c.991_992delinsGC |
p.Lys331Ala |
Missense |
8/63 |
- |
1 |
11-108117784-A-G |
c.995A>G |
p.Tyr332Cys |
Missense |
8/63 |
- |
1 |
11-108117787-C-T |
c.998C>T |
p.Ser333Phe |
Missense |
8/63 |
- |
8 |
11-108117798-C-T |
c.1009C>T |
p.Arg337Cys |
Missense |
8/63 |
- |
12 |
11-108117798-C-A |
c.1009C>A |
p.Arg337Ser |
Missense |
8/63 |
- |
1 |
11-108117799-G-A |
c.1010G>A |
p.Arg337His |
Missense |
8/63 |
- |
8 |
11-108117807-G-T |
c.1018G>T |
p.Ala340Ser |
Missense |
8/63 |
- |
1 |
11-108117812-C-CT |
c.1023_1024insT |
p.Lys342* |
Nonsense |
8/63 |
- |
1 |
11-108117815-A-AA |
c.1026dup |
p.Glu343Argfs*5 |
Frameshift |
8/63 |
- |
1 |
11-108117816-AGAAA-A |
c.1027_1030del |
p.Glu343Ilefs*2 |
Frameshift |
8/63 |
- |
1 |
11-108117816-G-A |
c.1027G>A |
p.Glu343Lys |
Missense |
8/63 |
- |
1 |
11-108117826-T-A |
c.1037T>A |
p.Ile346Asn |
Missense |
8/63 |
- |
2 |
11-108117832-T-C |
c.1043T>C |
p.Leu348Ser |
Missense |
8/63 |
- |
1 |
11-108117833-G-C |
c.1044G>C |
p.Leu348Phe |
Missense |
8/63 |
- |
1 |
11-108117838-C-A |
c.1049C>A |
p.Ala350Glu |
Missense |
8/63 |
- |
1 |
11-108117847-TGT-T |
c.1058_1059del |
p.Cys353Serfs*5 |
Frameshift |
8/63 |
- |
3 |
11-108117852-C-T |
c.1063C>T |
p.Gln355* |
Nonsense |
8/63 |
- |
1 |
11-108119654-T-G |
c.1066-6T>G |
- |
IntronicSNV |
- |
8/62 |
9 |
11-108119660-G-A |
c.1066G>A |
p.Val356Ile |
Missense |
9/63 |
- |
2 |
11-108119660-G-GG |
c.1066dup |
p.Val356Glyfs*3 |
SpliceAcceptorInsertion |
9/63 |
- |
1 |
11-108119665-TT-T |
c.1071del |
p.Phe357Leufs*33 |
Frameshift |
9/63 |
- |
1 |
11-108119681-T-G |
c.1087T>G |
p.Ser363Ala |
Missense |
9/63 |
- |
1 |
11-108119681-TC-AA |
c.1087_1088delinsAA |
p.Ser363Asn |
Missense |
9/63 |
- |
1 |
11-108119687-G-A |
c.1093G>A |
p.Glu365Lys |
Missense |
9/63 |
- |
1 |
11-108119693-T-C |
c.1099T>C |
p.Ser367Pro |
Missense |
9/63 |
- |
1 |
11-108119693-TC-GA |
c.1099_1100inv |
p.Ser367Asp |
Missense |
9/63 |
- |
1 |
11-108119693-T-G |
c.1099T>G |
p.Ser367Ala |
Missense |
9/63 |
- |
14 |
11-108119693-TCT-GAG |
c.1099_1101delinsGAG |
p.Ser367Glu |
Missense |
9/63 |
- |
1 |
11-108119694-TC-T |
c.1100del |
p.Ser367Phefs*23 |
Frameshift |
9/63 |
- |
2 |
11-108119703-A-T |
c.1109A>T |
p.Tyr370Phe |
Missense |
9/63 |
- |
1 |
11-108119704-C-G |
c.1110C>G |
p.Tyr370* |
Nonsense |
9/63 |
- |
1 |
11-108119704-C-A |
c.1110C>A |
p.Tyr370* |
Nonsense |
9/63 |
- |
1 |
11-108119708-ACT-GAG |
c.1114_1116delinsGAG |
p.Thr372Glu |
Missense |
9/63 |
- |
1 |
11-108119708-A-G |
c.1114A>G |
p.Thr372Ala |
Missense |
9/63 |
- |
1 |
11-108119709-CT-GG |
c.1115_1116delinsGG |
p.Thr372Arg |
Missense |
9/63 |
- |
1 |
11-108119711-AC-GA |
c.1117_1118delinsGA |
p.Thr373Glu |
Missense |
9/63 |
- |
1 |
11-108119711-A-G |
c.1117A>G |
p.Thr373Ala |
Missense |
9/63 |
- |
1 |
11-108119712-C-A |
c.1118C>A |
p.Thr373Lys |
Missense |
9/63 |
- |
1 |
11-108119714-C-T |
c.1120C>T |
p.Gln374* |
Nonsense |
9/63 |
- |
1 |
11-108119716-AAA-A |
c.1122_1123del |
p.Glu376Ilefs*2 |
Frameshift |
9/63 |
- |
1 |
11-108119719-A-AT |
c.1125_1126insT |
p.Glu376* |
Nonsense |
9/63 |
- |
1 |
11-108119720-AGA-A |
c.1126_1127del |
p.Glu376Ilefs*2 |
Frameshift |
9/63 |
- |
1 |
11-108119723-TC-GG |
c.1129_1130delinsGG |
p.Ser377Gly |
Missense |
9/63 |
- |
1 |
11-108119726-AG-GC |
c.1132_1133delinsGC |
p.Ser378Ala |
Missense |
9/63 |
- |
1 |
11-108119735-AGT-TGA |
c.1141_1143delinsTGA |
p.Ser381* |
Nonsense |
9/63 |
- |
1 |
11-108119741-C-G |
c.1147C>G |
p.Pro383Ala |
Missense |
9/63 |
- |
1 |
11-108119750-A-G |
c.1156A>G |
p.Arg386Gly |
Missense |
9/63 |
- |
1 |
11-108119757-A-G |
c.1163A>G |
p.Lys388Arg |
Missense |
9/63 |
- |
1 |
11-108119771-TG-GC |
c.1177_1178delinsGC |
p.Trp393Ala |
Missense |
9/63 |
- |
1 |
11-108119773-GGG-G |
c.1179_1180del |
p.Trp393* |
Frameshift |
9/63 |
- |
1 |
11-108119789-C-T |
c.1195C>T |
p.His399Tyr |
Missense |
9/63 |
- |
1 |
11-108119801-T-G |
c.1207T>G |
p.Ser403Ala |
Missense |
9/63 |
- |
5 |
11-108119809-AT-A |
c.1215del |
p.Asn405Lysfs*15 |
Frameshift |
9/63 |
- |
2 |
11-108119816-GAT-CAA |
c.1222_1224delinsCAA |
p.Asp408Gln |
Missense |
9/63 |
- |
1 |
11-108119817-A-C |
c.1223A>C |
p.Asp408Ala |
Missense |
9/63 |
- |
1 |
11-108119823-T-C |
c.1229T>C |
p.Val410Ala |
Missense |
9/63 |
- |
15 |
11-108119829-G-A |
c.1235G>A |
p.Trp412* |
Nonsense |
9/63 |
- |
1 |
11-108121428-G-A |
c.1236G>A |
p.Trp412* |
Nonsense |
10/63 |
- |
1 |
11-108120439-G-A |
c.1235+610G>A |
- |
IntronicSNV |
- |
9/62 |
1 |
11-108121426-A-T |
c.1236-2A>T |
- |
IntronicSNV |
- |
9/62 |
3 |
11-108121429-C-A |
c.1237C>A |
p.Leu413Ile |
Missense |
10/63 |
- |
1 |
11-108121446-A-G |
c.1254A>G |
p.Gln418Gln |
Synonymous |
10/63 |
- |
1 |
11-108121450-AA-A |
c.1258del |
p.Ile420Tyrfs*17 |
Frameshift |
10/63 |
- |
1 |
11-108121463-C-A |
c.1271C>A |
p.Pro424His |
Missense |
10/63 |
- |
1 |
11-108121477-TAACT-T |
c.1285_1288del |
p.Asn429Valfs*7 |
Frameshift |
10/63 |
- |
1 |
11-108121483-G-T |
c.1291G>T |
p.Glu431* |
Nonsense |
10/63 |
- |
1 |
11-108121483-G-A |
c.1291G>A |
p.Glu431Lys |
Missense |
10/63 |
- |
1 |
11-108121496-T-A |
c.1304T>A |
p.Leu435* |
Nonsense |
10/63 |
- |
1 |
11-108121498-C-A |
c.1306C>A |
p.Leu436Met |
Missense |
10/63 |
- |
1 |
11-108121510-T-G |
c.1318T>G |
p.Ser440Ala |
Missense |
10/63 |
- |
1 |
11-108121510-TC-GA |
c.1318_1319inv |
p.Ser440Asp |
Missense |
10/63 |
- |
1 |
11-108121531-C-T |
c.1339C>T |
p.Arg447* |
Nonsense |
10/63 |
- |
1 |
11-108121538-G-C |
c.1346G>C |
p.Gly449Ala |
Missense |
10/63 |
- |
1 |
11-108121543-C-T |
c.1351C>T |
p.Arg451Cys |
Missense |
10/63 |
- |
1 |
11-108121561-C-T |
c.1369C>T |
p.Arg457* |
Nonsense |
10/63 |
- |
3 |
11-108121574-A-C |
c.1382A>C |
p.Glu461Ala |
Missense |
10/63 |
- |
1 |
11-108121575-A-T |
c.1383A>T |
p.Glu461Asp |
Missense |
10/63 |
- |
1 |
11-108121575-A-C |
c.1383A>C |
p.Glu461Asp |
Missense |
10/63 |
- |
1 |
11-108121585-TG-AC |
c.1393_1394delinsAC |
p.Cys465Thr |
Missense |
10/63 |
- |
1 |
11-108121585-T-A |
c.1393T>A |
p.Cys465Ser |
Missense |
10/63 |
- |
1 |
11-108121586-G-C |
c.1394G>C |
p.Cys465Ser |
Missense |
10/63 |
- |
1 |
11-108121594-CAA-C |
c.1402_1403del |
p.Lys468Glufs*18 |
Frameshift |
10/63 |
- |
3 |
11-108121594-CAAGAG-C |
c.1402_1406del |
p.Lys468Valfs*17 |
Frameshift |
10/63 |
- |
1 |
11-108121601-C-G |
c.1409C>G |
p.Ser470* |
Nonsense |
10/63 |
- |
1 |
11-108121601-C-A |
c.1409C>A |
p.Ser470* |
Nonsense |
10/63 |
- |
1 |
11-108121612-AG-GC |
c.1420_1421delinsGC |
p.Ser474Ala |
Missense |
10/63 |
- |
2 |
11-108121612-AGC-CAA |
c.1420_1422delinsCAA |
p.Ser474Gln |
Missense |
10/63 |
- |
1 |
11-108121615-T-G |
c.1423T>G |
p.Ser475Ala |
Missense |
10/63 |
- |
1 |
11-108121618-CA-GC |
c.1426_1427delinsGC |
p.Gln476Ala |
Missense |
10/63 |
- |
1 |
11-108121624-TC-GT |
c.1432_1433delinsGT |
p.Ser478Val |
Missense |
10/63 |
- |
1 |
11-108121624-TCA-GAC |
c.1432_1434delinsGAC |
p.Ser478Asp |
Missense |
10/63 |
- |
1 |
11-108121624-T-G |
c.1432T>G |
p.Ser478Ala |
Missense |
10/63 |
- |
1 |
11-108121627-GA-AC |
c.1435_1436delinsAC |
p.Asp479Thr |
Missense |
10/63 |
- |
1 |
11-108121627-G-T |
c.1435G>T |
p.Asp479Tyr |
Missense |
10/63 |
- |
1 |
11-108121632-A-T |
c.1440A>T |
p.Leu480Phe |
Missense |
10/63 |
- |
1 |
11-108121632-A-C |
c.1440A>C |
p.Leu480Phe |
Missense |
10/63 |
- |
1 |
11-108121636-AA-GC |
c.1444_1445delinsGC |
p.Lys482Ala |
Missense |
10/63 |
- |
1 |
11-108121636-A-C |
c.1444A>C |
p.Lys482Gln |
Missense |
10/63 |
- |
1 |
11-108121652-TT-GG |
c.1460_1461delinsGG |
p.Ile487Arg |
Missense |
10/63 |
- |
1 |
11-108121655-G-A |
c.1463G>A |
p.Trp488* |
Nonsense |
10/63 |
- |
2 |
11-108121656-G-A |
c.1464G>A |
p.Trp488* |
Nonsense |
10/63 |
- |
2 |
11-108121656-G-T |
c.1464G>T |
p.Trp488Cys |
Missense |
10/63 |
- |
1 |
11-108121672-G-T |
c.1480G>T |
p.Gly494Cys |
Missense |
10/63 |
- |
1 |
11-108121692-A-G |
c.1500A>G |
p.Ile500Met |
Missense |
10/63 |
- |
1 |
11-108121702-AAACTTTG-A |
c.1510_1516del |
p.Asn504Alafs*6 |
Frameshift |
10/63 |
- |
1 |
11-108121708-GG-TT |
c.1516_1517delinsTT |
p.Gly506Phe |
Missense |
10/63 |
- |
1 |
11-108121708-G-T |
c.1516G>T |
p.Gly506Cys |
Missense |
10/63 |
- |
1 |
11-108121714-C-T |
c.1522C>T |
p.Leu508Phe |
Missense |
10/63 |
- |
1 |
11-108121717-G-T |
c.1525G>T |
p.Gly509* |
Nonsense |
10/63 |
- |
1 |
11-108121730-A-G |
c.1538A>G |
p.Gln513Arg |
Missense |
10/63 |
- |
1 |
11-108121733-G-A |
c.1541G>A |
p.Gly514Asp |
Missense |
10/63 |
- |
4 |
11-108121733-G-C |
c.1541G>C |
p.Gly514Ala |
Missense |
10/63 |
- |
1 |
11-108121735-AG-GC |
c.1543_1544delinsGC |
p.Ser515Ala |
Missense |
10/63 |
- |
1 |
11-108121741-G-A |
c.1549G>A |
p.Val517Ile |
Missense |
10/63 |
- |
1 |
11-108121753-A-T |
c.1561A>T |
p.Arg521* |
Nonsense |
10/63 |
- |
1 |
11-108121753-AGA-TGT |
c.1561_1563delinsTGT |
p.Arg521Cys |
Missense |
10/63 |
- |
1 |
11-108121754-G-C |
c.1562G>C |
p.Arg521Thr |
Missense |
10/63 |
- |
1 |
11-108121756-AGA-A |
c.1564_1565del |
p.Glu522Ilefs*43 |
Frameshift |
10/63 |
- |
11 |
11-108121756-G-T |
c.1564G>T |
p.Glu522* |
Nonsense |
10/63 |
- |
1 |
11-108121756-GA-AT |
c.1564_1565delinsAT |
p.Glu522Ile |
Missense |
10/63 |
- |
1 |
11-108121787-G-A |
c.1595G>A |
p.Cys532Tyr |
Missense |
10/63 |
- |
4 |
11-108121789-AG-GC |
c.1597_1598delinsGC |
p.Arg533Ala |
Missense |
10/63 |
- |
1 |
11-108121792-C-G |
c.1600C>G |
p.Pro534Ala |
Missense |
10/63 |
- |
1 |
11-108121795-T-G |
c.1603T>G |
p.Ser535Ala |
Missense |
10/63 |
- |
1 |
11-108121800-G-A |
c.1607+1G>A |
- |
IntronicSNV |
- |
10/62 |
1 |
11-108122562-A-G |
c.1608-2A>G |
- |
IntronicSNV |
- |
10/62 |
1 |
11-108122565-TCCTGCAGT-T |
c.1609_1616del |
p.Pro537Metfs*26 |
SpliceAcceptorDeletion |
11/63 |
- |
1 |
11-108122577-TG-AC |
c.1621_1622delinsAC |
p.Cys541Thr |
Missense |
11/63 |
- |
1 |
11-108122581-T-G |
c.1625T>G |
p.Leu542Trp |
Missense |
11/63 |
- |
1 |
11-108122583-A-G |
c.1627A>G |
p.Thr543Ala |
Missense |
11/63 |
- |
3 |
11-108122592-C-G |
c.1636C>G |
p.Leu546Val |
Missense |
11/63 |
- |
3 |
11-108122598-A-G |
c.1642A>G |
p.Thr548Ala |
Missense |
11/63 |
- |
1 |
11-108122607-GTT-TAA |
c.1651_1653delinsTAA |
p.Val551* |
Nonsense |
11/63 |
- |
1 |
11-108122613-G-T |
c.1657G>T |
p.Gly553* |
Nonsense |
11/63 |
- |
1 |
11-108122616-A-G |
c.1660A>G |
p.Thr554Ala |
Missense |
11/63 |
- |
1 |
11-108122655-A-G |
c.1699A>G |
p.Asn567Asp |
Missense |
11/63 |
- |
1 |
11-108122659-G-T |
c.1703G>T |
p.Arg568Ile |
Missense |
11/63 |
- |
1 |
11-108122661-AG-GC |
c.1705_1706delinsGC |
p.Ser569Ala |
Missense |
11/63 |
- |
1 |
11-108122665-T-C |
c.1709T>C |
p.Phe570Ser |
Missense |
11/63 |
- |
1 |
11-108122683-T-C |
c.1727T>C |
p.Ile576Thr |
Missense |
11/63 |
- |
1 |
11-108122692-G-A |
c.1736G>A |
p.Trp579* |
Nonsense |
11/63 |
- |
1 |
11-108122693-G-A |
c.1737G>A |
p.Trp579* |
Nonsense |
11/63 |
- |
1 |
11-108122700-T-C |
c.1744T>C |
p.Phe582Leu |
Missense |
11/63 |
- |
8 |
11-108122702-C-T |
c.1746C>T |
p.Phe582Phe |
Synonymous |
11/63 |
- |
1 |
11-108122740-T-C |
c.1784T>C |
p.Val595Ala |
Missense |
11/63 |
- |
1 |
11-108123189-C-T |
c.1803-355C>T |
- |
IntronicSNV |
- |
11/62 |
6 |
11-108123189-C-A |
c.1803-355C>A |
- |
IntronicSNV |
- |
11/62 |
6 |
11-108123536-C-T |
c.1803-8C>T |
- |
IntronicSNV |
- |
11/62 |
1 |
11-108123545-A-G |
c.1804A>G |
p.Asn602Asp |
Missense |
12/63 |
- |
1 |
11-108123548-T-A |
c.1807T>A |
p.Phe603Ile |
Missense |
12/63 |
- |
1 |
11-108123551-C-T |
c.1810C>T |
p.Pro604Ser |
Missense |
12/63 |
- |
18 |
11-108123555-A-G |
c.1814A>G |
p.His605Arg |
Missense |
12/63 |
- |
1 |
11-108123557-CT-GC |
c.1816_1817delinsGC |
p.Leu606Ala |
Missense |
12/63 |
- |
1 |
11-108123570-A-C |
c.1829A>C |
p.Lys610Thr |
Missense |
12/63 |
- |
1 |
11-108123573-T-G |
c.1832T>G |
p.Ile611Ser |
Missense |
12/63 |
- |
1 |
11-108123581-AG-GC |
c.1840_1841delinsGC |
p.Ser614Ala |
Missense |
12/63 |
- |
2 |
11-108123588-C-T |
c.1847C>T |
p.Thr616Ile |
Missense |
12/63 |
- |
1 |
11-108123593-AA-GC |
c.1852_1853delinsGC |
p.Lys618Ala |
Missense |
12/63 |
- |
1 |
11-108123597-A-G |
c.1856A>G |
p.Asn619Ser |
Missense |
12/63 |
- |
1 |
11-108123603-A-G |
c.1862A>G |
p.Lys621Arg |
Missense |
12/63 |
- |
1 |
11-108123609-C-A |
c.1868C>A |
p.Ala623Glu |
Missense |
12/63 |
- |
2 |
11-108123629-G-A |
c.1888G>A |
p.Val630Met |
Missense |
12/63 |
- |
1 |
11-108123635-G-T |
c.1894G>T |
p.Glu632* |
Nonsense |
12/63 |
- |
1 |
11-108124486-T-A |
c.1899-55T>A |
- |
IntronicSNV |
- |
12/62 |
1 |
11-108124486-T-G |
c.1899-55T>G |
- |
IntronicSNV |
- |
12/62 |
4 |
11-108124560-A-T |
c.1918A>T |
p.Lys640* |
Nonsense |
13/63 |
- |
2 |
11-108124566-G-T |
c.1924G>T |
p.Glu642* |
Nonsense |
13/63 |
- |
1 |
11-108124572-T-G |
c.1930T>G |
p.Ser644Ala |
Missense |
13/63 |
- |
1 |
11-108124573-C-A |
c.1931C>A |
p.Ser644* |
Nonsense |
13/63 |
- |
3 |
11-108124582-A-G |
c.1940A>G |
p.Glu647Gly |
Missense |
13/63 |
- |
1 |
11-108124590-G-T |
c.1948G>T |
p.Glu650* |
Nonsense |
13/63 |
- |
1 |
11-108124602-C-A |
c.1960C>A |
p.Gln654Lys |
Missense |
13/63 |
- |
2 |
11-108124620-GA-G |
c.1978del |
p.Met660Trpfs*4 |
Frameshift |
13/63 |
- |
1 |
11-108124624-A-C |
c.1982A>C |
p.Asp661Ala |
Missense |
13/63 |
- |
1 |
11-108124628-T-C |
c.1986T>C |
p.Phe662Phe |
Synonymous |
13/63 |
- |
2 |
11-108124630-T-TCT |
c.1988_1989insCT |
p.Leu663Phefs*2 |
Frameshift |
13/63 |
- |
1 |
11-108124653-A-AA |
c.2011dup |
p.Ile671Asnfs*34 |
Frameshift |
13/63 |
- |
1 |
11-108124663-A-G |
c.2021A>G |
p.His674Arg |
Missense |
13/63 |
- |
1 |
11-108124668-T-G |
c.2026T>G |
p.Ser676Ala |
Missense |
13/63 |
- |
1 |
11-108124668-TCC-CAA |
c.2026_2028delinsCAA |
p.Ser676Gln |
Missense |
13/63 |
- |
1 |
11-108124720-G-A |
c.2078G>A |
p.Cys693Tyr |
Missense |
13/63 |
- |
1 |
11-108124723-T-G |
c.2081T>G |
p.Leu694Arg |
Missense |
13/63 |
- |
1 |
11-108124734-T-G |
c.2092T>G |
p.Ser698Ala |
Missense |
13/63 |
- |
1 |
11-108124738-A-G |
c.2096A>G |
p.Glu699Gly |
Missense |
13/63 |
- |
1 |
11-108124744-T-A |
c.2102T>A |
p.Leu701His |
Missense |
13/63 |
- |
4 |
11-108124747-TG-AT |
c.2105_2106delinsAT |
p.Leu702His |
Missense |
13/63 |
- |
7 |
11-108124761-T-G |
c.2119T>G |
p.Ser707Ala |
Missense |
13/63 |
- |
1 |
11-108124761-T-C |
c.2119T>C |
p.Ser707Pro |
Missense |
13/63 |
- |
24 |
11-108124762-C-A |
c.2120C>A |
p.Ser707Tyr |
Missense |
13/63 |
- |
1 |
11-108126951-T-G |
c.2134T>G |
p.Ser712Ala |
Missense |
14/63 |
- |
1 |
11-108126963-GTC-ATG |
c.2146_2148delinsATG |
p.Val716Met |
Missense |
14/63 |
- |
1 |
11-108126966-C-T |
c.2149C>T |
p.Arg717Trp |
Missense |
14/63 |
- |
3 |
11-108126967-G-A |
c.2150G>A |
p.Arg717Gln |
Missense |
14/63 |
- |
1 |
11-108126969-TGT-AAAC |
c.2152_2154delinsAAAC |
p.Cys718Lysfs*20 |
Frameshift |
14/63 |
- |
1 |
11-108126976-GT-AA |
c.2159_2160delinsAA |
p.Arg720Gln |
Missense |
14/63 |
- |
1 |
11-108126976-G-A |
c.2159G>A |
p.Arg720His |
Missense |
14/63 |
- |
1 |
11-108126981-T-C |
c.2164T>C |
p.Leu722Leu |
Synonymous |
14/63 |
- |
1 |
11-108126988-G-A |
c.2171G>A |
p.Gly724Asp |
Missense |
14/63 |
- |
1 |
11-108127009-A-AA |
c.2192dup |
p.Tyr731* |
Nonsense |
14/63 |
- |
1 |
11-108127010-C-T |
c.2193C>T |
p.Tyr731Tyr |
Synonymous |
14/63 |
- |
1 |
11-108127037-A-C |
c.2220A>C |
p.Ala740Ala |
Synonymous |
14/63 |
- |
1 |
11-108127040-ATAAGTCAG-A |
c.2223_2230del |
p.Tyr741* |
Frameshift |
14/63 |
- |
1 |
11-108127043-G-T |
c.2226G>T |
p.Lys742Asn |
Missense |
14/63 |
- |
1 |
11-108127067-G-A |
c.2250G>A |
p.Lys750Lys |
Synonymous |
14/63 |
- |
7 |
11-108128198-T-G |
c.2251-10T>G |
- |
IntronicSNV |
- |
14/62 |
1 |
11-108128207-G-A |
c.2251-1G>A |
- |
IntronicSNV |
- |
14/62 |
1 |
11-108128212-T-C |
c.2255T>C |
p.Leu752Pro |
Missense |
15/63 |
- |
1 |
11-108128232-A-G |
c.2275A>G |
p.Ser759Gly |
Missense |
15/63 |
- |
1 |
11-108128233-G-A |
c.2276G>A |
p.Ser759Asn |
Missense |
15/63 |
- |
1 |
11-108128235-AT-TG |
c.2278_2279delinsTG |
p.Ile760Cys |
Missense |
15/63 |
- |
1 |
11-108128241-TCT-T |
c.2284_2285del |
p.Leu762Valfs*2 |
Frameshift |
15/63 |
- |
2 |
11-108128246-T-A |
c.2289T>A |
p.Phe763Leu |
Missense |
15/63 |
- |
1 |
11-108128246-T-C |
c.2289T>C |
p.Phe763Phe |
Synonymous |
15/63 |
- |
1 |
11-108128287-G-A |
c.2330G>A |
p.Arg777Lys |
Missense |
15/63 |
- |
1 |
11-108128293-T-C |
c.2336T>C |
p.Met779Thr |
Missense |
15/63 |
- |
1 |
11-108128313-TG-AC |
c.2356_2357delinsAC |
p.Cys786Thr |
Missense |
15/63 |
- |
1 |
11-108129599-C-G |
c.2377-114C>G |
- |
IntronicSNV |
- |
15/62 |
1 |
11-108129657-A-T |
c.2377-56A>T |
- |
IntronicSNV |
- |
15/62 |
2 |
11-108129657-A-G |
c.2377-56A>G |
- |
IntronicSNV |
- |
15/62 |
2 |
11-108129713-AA-GC |
c.2377_2378delinsGC |
p.Lys793Ala |
Missense |
16/63 |
- |
1 |
11-108129716-AG-GA |
c.2380_2381delinsGA |
p.Ser794Asp |
Missense |
16/63 |
- |
1 |
11-108129716-AG-GC |
c.2380_2381delinsGC |
p.Ser794Ala |
Missense |
16/63 |
- |
1 |
11-108129749-C-T |
c.2413C>T |
p.Arg805* |
Nonsense |
16/63 |
- |
7 |
11-108129749-CG-GA |
c.2413_2414delinsGA |
p.Arg805Glu |
Missense |
16/63 |
- |
5 |
11-108129750-G-A |
c.2414G>A |
p.Arg805Gln |
Missense |
16/63 |
- |
1 |
11-108129750-GA-AT |
c.2414_2415delinsAT |
p.Arg805His |
Missense |
16/63 |
- |
1 |
11-108129754-G-C |
c.2418G>C |
p.Leu806Phe |
Missense |
16/63 |
- |
1 |
11-108129754-G-T |
c.2418G>T |
p.Leu806Phe |
Missense |
16/63 |
- |
1 |
11-108129761-T-G |
c.2425T>G |
p.Ser809Ala |
Missense |
16/63 |
- |
1 |
11-108129762-C-A |
c.2426C>A |
p.Ser809* |
Nonsense |
16/63 |
- |
2 |
11-108129778-C-A |
c.2442C>A |
p.Asp814Glu |
Missense |
16/63 |
- |
3 |
11-108129801-T-C |
c.2465T>C |
p.Leu822Ser |
Missense |
16/63 |
- |
1 |
11-108130712-G-A |
c.2466+910G>A |
- |
IntronicSNV |
- |
16/62 |
2 |
11-108130712-G-T |
c.2466+910G>T |
- |
IntronicSNV |
- |
16/62 |
2 |
11-108136546-C-T |
c.2467-1352C>T |
- |
IntronicSNV |
- |
16/62 |
1 |
11-108137775-T-A |
c.2467-123T>A |
- |
IntronicSNV |
- |
16/62 |
1 |
11-108137775-T-G |
c.2467-123T>G |
- |
IntronicSNV |
- |
16/62 |
1 |
11-108137901-TC-GA |
c.2470_2471inv |
p.Ser824Asp |
Missense |
17/63 |
- |
7 |
11-108137901-T-C |
c.2470T>C |
p.Ser824Pro |
Missense |
17/63 |
- |
3 |
11-108137901-T-G |
c.2470T>G |
p.Ser824Ala |
Missense |
17/63 |
- |
8 |
11-108137903-C-T |
c.2472C>T |
p.Ser824Ser |
Synonymous |
17/63 |
- |
1 |
11-108137903-C-G |
c.2472C>G |
p.Ser824Ser |
Synonymous |
17/63 |
- |
1 |
11-108137903-C-A |
c.2472C>A |
p.Ser824Ser |
Synonymous |
17/63 |
- |
1 |
11-108137907-A-C |
c.2476A>C |
p.Ile826Leu |
Missense |
17/63 |
- |
1 |
11-108137912-A-AT |
c.2481_2482insT |
p.Lys828* |
Nonsense |
17/63 |
- |
1 |
11-108137914-AA-A |
c.2483del |
p.Lys828Serfs*8 |
Frameshift |
17/63 |
- |
1 |
11-108137925-C-T |
c.2494C>T |
p.Arg832Cys |
Missense |
17/63 |
- |
1 |
11-108137933-A-AA |
c.2502dup |
p.Val835Serfs*7 |
Frameshift |
17/63 |
- |
2 |
11-108137934-GT-TC |
c.2503_2504delinsTC |
p.Val835Ser |
Missense |
17/63 |
- |
1 |
11-108137934-AGTAGA-A |
c.2503_2507del |
p.Val835Ilefs*5 |
Frameshift |
17/63 |
- |
1 |
11-108137938-A-C |
c.2507A>C |
p.Glu836Ala |
Missense |
17/63 |
- |
1 |
11-108137950-A-T |
c.2519A>T |
p.Asp840Val |
Missense |
17/63 |
- |
1 |
11-108137952-G-T |
c.2521G>T |
p.Asp841Tyr |
Missense |
17/63 |
- |
1 |
11-108137973-G-A |
c.2542G>A |
p.Glu848Lys |
Missense |
17/63 |
- |
1 |
11-108137973-G-C |
c.2542G>C |
p.Glu848Gln |
Missense |
17/63 |
- |
1 |
11-108137983-A-G |
c.2552A>G |
p.Asp851Gly |
Missense |
17/63 |
- |
1 |
11-108137985-C-T |
c.2554C>T |
p.Gln852* |
Nonsense |
17/63 |
- |
2 |
11-108137998-A-T |
c.2567A>T |
p.Asn856Ile |
Missense |
17/63 |
- |
1 |
11-108138001-T-G |
c.2570T>G |
p.Leu857Arg |
Missense |
17/63 |
- |
1 |
11-108138003-T-C |
c.2572T>C |
p.Phe858Leu |
Missense |
17/63 |
- |
53 |
11-108138004-TT-AA |
c.2573_2574inv |
p.Phe858* |
Nonsense |
17/63 |
- |
1 |
11-108138012-T-C |
c.2581T>C |
p.Tyr861His |
Missense |
17/63 |
- |
1 |
11-108138018-GA-CG |
c.2587_2588delinsCG |
p.Asp863Arg |
Missense |
17/63 |
- |
1 |
11-108138025-G-A |
c.2594G>A |
p.Ser865Asn |
Missense |
17/63 |
- |
1 |
11-108138027-GTT-ATG |
c.2596_2598delinsATG |
p.Val866Met |
Missense |
17/63 |
- |
1 |
11-108138039-A-G |
c.2608A>G |
p.Asn870Asp |
Missense |
17/63 |
- |
2 |
11-108138042-G-A |
c.2611G>A |
p.Glu871Lys |
Missense |
17/63 |
- |
1 |
11-108138045-C-T |
c.2614C>T |
p.Pro872Ser |
Missense |
17/63 |
- |
5 |
11-108138045-C-A |
c.2614C>A |
p.Pro872Thr |
Missense |
17/63 |
- |
2 |
11-108138063-A-G |
c.2632A>G |
p.Thr878Ala |
Missense |
17/63 |
- |
15 |
11-108138753-A-G |
c.2639-384A>G |
- |
IntronicSNV |
- |
17/62 |
1 |
11-108139118-TGAGTGCTTTTTAT-T |
c.2639-19_2639-7del |
- |
IntronicDeletion |
- |
17/62 |
1 |
11-108139138-GT-G |
c.2640del |
p.Ala881Profs*5 |
Frameshift |
18/63 |
- |
1 |
11-108139143-T-C |
c.2645T>C |
p.Ile882Thr |
Missense |
18/63 |
- |
1 |
11-108139148-C-T |
c.2650C>T |
p.Pro884Ser |
Missense |
18/63 |
- |
1 |
11-108139170-C-G |
c.2672C>G |
p.Ser891* |
Nonsense |
18/63 |
- |
1 |
11-108139178-AG-A |
c.2680del |
p.Asp894Ilefs*5 |
Frameshift |
18/63 |
- |
1 |
11-108139183-A-G |
c.2685A>G |
p.Leu895Leu |
Synonymous |
18/63 |
- |
1 |
11-108139187-T-A |
c.2689T>A |
p.Phe897Ile |
Missense |
18/63 |
- |
1 |
11-108139197-T-C |
c.2699T>C |
p.Met900Thr |
Missense |
18/63 |
- |
1 |
11-108139218-TGTGT-T |
c.2720_2723del |
p.Cys907* |
Frameshift |
18/63 |
- |
2 |
11-108139232-C-G |
c.2734C>G |
p.Gln912Glu |
Missense |
18/63 |
- |
1 |
11-108139268-C-T |
c.2770C>T |
p.Arg924Trp |
Missense |
18/63 |
- |
3 |
11-108139269-G-A |
c.2771G>A |
p.Arg924Gln |
Missense |
18/63 |
- |
1 |
11-108139271-A-G |
c.2773A>G |
p.Arg925Gly |
Missense |
18/63 |
- |
1 |
11-108139275-A-G |
c.2777A>G |
p.Lys926Arg |
Missense |
18/63 |
- |
1 |
11-108139302-C-T |
c.2804C>T |
p.Thr935Met |
Missense |
18/63 |
- |
1 |
11-108139302-C-G |
c.2804C>G |
p.Thr935Arg |
Missense |
18/63 |
- |
2 |
11-108139303-G-C |
c.2805G>C |
p.Thr935Thr |
Synonymous |
18/63 |
- |
2 |
11-108139322-C-T |
c.2824C>T |
p.Leu942Phe |
Missense |
18/63 |
- |
1 |
11-108139334-A-AA |
c.2836dup |
p.Met946Asnfs*23 |
SpliceDonorInsertion |
18/63 |
- |
1 |
11-108140516-A-G |
c.2838+1180A>G |
- |
IntronicSNV |
- |
18/62 |
4 |
11-108141212-TAAGT-T |
c.2839-579_2839-576del |
- |
IntronicDeletion |
- |
18/62 |
1 |
11-108141493-GG-G |
c.2839-298del |
- |
IntronicDeletion |
- |
18/62 |
1 |
11-108141801-T-G |
c.2849T>G |
p.Leu950Arg |
Missense |
19/63 |
- |
2 |
11-108141809-G-A |
c.2857G>A |
p.Glu953Lys |
Missense |
19/63 |
- |
1 |
11-108141831-C-T |
c.2879C>T |
p.Pro960Leu |
Missense |
19/63 |
- |
2 |
11-108141832-CC-C |
c.2880del |
p.Leu961Cysfs*10 |
Frameshift |
19/63 |
- |
1 |
11-108141870-T-G |
c.2918T>G |
p.Leu973Arg |
Missense |
19/63 |
- |
1 |
11-108141873-C-T |
c.2921C>T |
p.Ser974Phe |
Missense |
19/63 |
- |
1 |
11-108141874-G-A |
c.2921+1G>A |
- |
IntronicSNV |
- |
19/62 |
3 |
11-108141977-G-T |
c.2922-1G>T |
- |
IntronicSNV |
- |
19/62 |
1 |
11-108141988-T-C |
c.2932T>C |
p.Ser978Pro |
Missense |
20/63 |
- |
3 |
11-108141989-C-T |
c.2933C>T |
p.Ser978Phe |
Missense |
20/63 |
- |
1 |
11-108142000-C-T |
c.2944C>T |
p.Arg982Cys |
Missense |
20/63 |
- |
1 |
11-108142001-G-A |
c.2945G>A |
p.Arg982His |
Missense |
20/63 |
- |
1 |
11-108142061-G-C |
c.3005G>C |
p.Gly1002Ala |
Missense |
20/63 |
- |
1 |
11-108142063-C-T |
c.3007C>T |
p.Gln1003* |
Nonsense |
20/63 |
- |
1 |
11-108142066-AG-GA |
c.3010_3011delinsGA |
p.Ser1004Asp |
Missense |
20/63 |
- |
1 |
11-108142066-AG-GC |
c.3010_3011delinsGC |
p.Ser1004Ala |
Missense |
20/63 |
- |
2 |
11-108142067-G-A |
c.3011G>A |
p.Ser1004Asn |
Missense |
20/63 |
- |
1 |
11-108142070-A-G |
c.3014A>G |
p.Asn1005Ser |
Missense |
20/63 |
- |
1 |
11-108142080-T-TT |
c.3024dup |
p.Glu1009* |
Nonsense |
20/63 |
- |
1 |
11-108142091-G-A |
c.3035G>A |
p.Arg1012Lys |
Missense |
20/63 |
- |
1 |
11-108142092-G-GT |
c.3036_3037insT |
p.Asp1013* |
Nonsense |
20/63 |
- |
1 |
11-108142094-A-AA |
c.3038dup |
p.Asp1013Glufs*35 |
Frameshift |
20/63 |
- |
1 |
11-108142108-T-C |
c.3052T>C |
p.Phe1018Leu |
Missense |
20/63 |
- |
1 |
11-108142110-T-A |
c.3054T>A |
p.Phe1018Leu |
Missense |
20/63 |
- |
1 |
11-108142110-T-G |
c.3054T>G |
p.Phe1018Leu |
Missense |
20/63 |
- |
1 |
11-108142114-A-AA |
c.3058dup |
p.Thr1020Asnfs*28 |
Frameshift |
20/63 |
- |
1 |
11-108142115-C-T |
c.3059C>T |
p.Thr1020Ile |
Missense |
20/63 |
- |
1 |
11-108142617-G-A |
c.3077+484G>A |
- |
IntronicSNV |
- |
20/62 |
1 |
11-108143182-C-T |
c.3078-77C>T |
- |
IntronicSNV |
- |
20/62 |
22 |
11-108143182-C-A |
c.3078-77C>A |
- |
IntronicSNV |
- |
20/62 |
22 |
11-108143259-G-C |
c.3078G>C |
p.Trp1026Cys |
Missense |
21/63 |
- |
1 |
11-108143259-G-T |
c.3078G>T |
p.Trp1026Cys |
Missense |
21/63 |
- |
1 |
11-108143266-A-AA |
c.3085dup |
p.Thr1029Asnfs*19 |
Frameshift |
21/63 |
- |
1 |
11-108143279-A-G |
c.3098A>G |
p.Lys1033Arg |
Missense |
21/63 |
- |
1 |
11-108143283-T-G |
c.3102T>G |
p.Tyr1034* |
Nonsense |
21/63 |
- |
1 |
11-108143287-T-C |
c.3106T>C |
p.Phe1036Leu |
Missense |
21/63 |
- |
1 |
11-108143289-C-A |
c.3108C>A |
p.Phe1036Leu |
Missense |
21/63 |
- |
1 |
11-108143289-C-G |
c.3108C>G |
p.Phe1036Leu |
Missense |
21/63 |
- |
1 |
11-108143293-GT-TA |
c.3112_3113delinsTA |
p.Val1038* |
Nonsense |
21/63 |
- |
1 |
11-108143294-T-C |
c.3113T>C |
p.Val1038Ala |
Missense |
21/63 |
- |
1 |
11-108143296-AG-CT |
c.3115_3116inv |
p.Arg1039Leu |
Missense |
21/63 |
- |
1 |
11-108143296-A-T |
c.3115A>T |
p.Arg1039* |
Nonsense |
21/63 |
- |
1 |
11-108143299-A-G |
c.3118A>G |
p.Met1040Val |
Missense |
21/63 |
- |
4 |
11-108143330-T-C |
c.3149T>C |
p.Leu1050Pro |
Missense |
21/63 |
- |
1 |
11-108143335-G-A |
c.3153+1G>A |
- |
IntronicSNV |
- |
21/62 |
1 |
11-108143447-A-C |
c.3154-2A>C |
- |
IntronicSNV |
- |
21/62 |
1 |
11-108143456-C-A |
c.3161C>A |
p.Pro1054His |
Missense |
22/63 |
- |
16 |
11-108143456-C-G |
c.3161C>G |
p.Pro1054Arg |
Missense |
22/63 |
- |
58 |
11-108143464-A-T |
c.3169A>T |
p.Lys1057* |
Nonsense |
22/63 |
- |
1 |
11-108143469-G-A |
c.3174G>A |
p.Trp1058* |
Nonsense |
22/63 |
- |
1 |
11-108143480-AA-A |
c.3185del |
p.Asn1062Metfs*2 |
Frameshift |
22/63 |
- |
1 |
11-108143487-G-C |
c.3192G>C |
p.Met1064Ile |
Missense |
22/63 |
- |
1 |
11-108143487-G-T |
c.3192G>T |
p.Met1064Ile |
Missense |
22/63 |
- |
1 |
11-108143487-G-A |
c.3192G>A |
p.Met1064Ile |
Missense |
22/63 |
- |
1 |
11-108143501-CC-C |
c.3206del |
p.Pro1069Leufs*2 |
Frameshift |
22/63 |
- |
2 |
11-108143503-G-A |
c.3208G>A |
p.Val1070Ile |
Missense |
22/63 |
- |
1 |
11-108143509-G-T |
c.3214G>T |
p.Glu1072* |
Nonsense |
22/63 |
- |
2 |
11-108143513-T-TT |
c.3218dup |
p.Phe1074Ilefs*7 |
Frameshift |
22/63 |
- |
1 |
11-108143518-A-G |
c.3223A>G |
p.Thr1075Ala |
Missense |
22/63 |
- |
1 |
11-108143531-C-T |
c.3236C>T |
p.Ala1079Val |
Missense |
22/63 |
- |
1 |
11-108143535-C-A |
c.3240C>A |
p.Asp1080Glu |
Missense |
22/63 |
- |
2 |
11-108143539-C-CG |
c.3244_3245insG |
p.His1082Argfs*14 |
Frameshift |
22/63 |
- |
1 |
11-108143539-C-CTG |
c.3244_3245insTG |
p.His1082Leufs*28 |
Frameshift |
22/63 |
- |
1 |
11-108143540-ATC-TGAT |
c.3245_3247delinsTGAT |
p.His1082Leufs*14 |
Frameshift |
22/63 |
- |
4 |
11-108143543-A-G |
c.3248A>G |
p.His1083Arg |
Missense |
22/63 |
- |
1 |
11-108143566-G-A |
c.3271G>A |
p.Glu1091Lys |
Missense |
22/63 |
- |
1 |
11-108143570-C-A |
c.3275C>A |
p.Ser1092* |
Nonsense |
22/63 |
- |
1 |
11-108145249-C-T |
c.3284+1670C>T |
- |
IntronicSNV |
- |
22/62 |
1 |
11-108148839-A-G |
c.3285-1379A>G |
- |
IntronicSNV |
- |
22/62 |
3 |
11-108148839-A-T |
c.3285-1379A>T |
- |
IntronicSNV |
- |
22/62 |
3 |
11-108149207-T-G |
c.3285-1011T>G |
- |
IntronicSNV |
- |
22/62 |
2 |
11-108150209-TT-T |
c.3285-9del |
- |
IntronicDeletion |
- |
22/62 |
2 |
11-108150253-T-A |
c.3320T>A |
p.Leu1107* |
Nonsense |
23/63 |
- |
1 |
11-108150259-A-G |
c.3326A>G |
p.Lys1109Arg |
Missense |
23/63 |
- |
1 |
11-108150265-T-C |
c.3332T>C |
p.Leu1111Pro |
Missense |
23/63 |
- |
1 |
11-108150267-C-G |
c.3334C>G |
p.Pro1112Ala |
Missense |
23/63 |
- |
1 |
11-108150273-A-T |
c.3340A>T |
p.Lys1114* |
Nonsense |
23/63 |
- |
1 |
11-108150274-A-G |
c.3341A>G |
p.Lys1114Arg |
Missense |
23/63 |
- |
1 |
11-108150305-C-G |
c.3372C>G |
p.Tyr1124* |
Nonsense |
23/63 |
- |
1 |
11-108150308-G-T |
c.3375G>T |
p.Leu1125Phe |
Missense |
23/63 |
- |
1 |
11-108150308-G-C |
c.3375G>C |
p.Leu1125Phe |
Missense |
23/63 |
- |
1 |
11-108150313-C-T |
c.3380C>T |
p.Ala1127Val |
Missense |
23/63 |
- |
1 |
11-108150314-CTCAG-C |
c.3381_3384del |
p.Gln1128Lysfs*3 |
Frameshift |
23/63 |
- |
1 |
11-108150316-A-G |
c.3383A>G |
p.Gln1128Arg |
Missense |
23/63 |
- |
2 |
11-108150351-A-G |
c.3402+16A>G |
- |
IntronicSNV |
- |
23/62 |
1 |
11-108150367-TCAT-T |
c.3402+32_3402+34del |
- |
IntronicDeletion |
- |
23/62 |
1 |
11-108151722-GTCCCATAGTGCTGAGAACCCTGAAACTTTGGATGAAATTTATAATAGAAAATCTGTTTT-G |
c.3403_3461del |
p.Ser1135Thrfs*11 |
InFrameDeletion |
24/63 |
- |
1 |
11-108151763-T-A |
c.3444T>A |
p.Tyr1148* |
Nonsense |
24/63 |
- |
1 |
11-108151763-T-G |
c.3444T>G |
p.Tyr1148* |
Nonsense |
24/63 |
- |
1 |
11-108151773-T-G |
c.3454T>G |
p.Ser1152Ala |
Missense |
24/63 |
- |
2 |
11-108151786-C-T |
c.3467C>T |
p.Thr1156Met |
Missense |
24/63 |
- |
1 |
11-108151801-T-G |
c.3482T>G |
p.Val1161Gly |
Missense |
24/63 |
- |
1 |
11-108151823-C-CT |
c.3504_3505insT |
p.Glu1169* |
Nonsense |
24/63 |
- |
1 |
11-108151830-C-T |
c.3511C>T |
p.Gln1171* |
Nonsense |
24/63 |
- |
1 |
11-108151868-T-C |
c.3549T>C |
p.Asn1183Asn |
Synonymous |
24/63 |
- |
1 |
11-108151879-C-G |
c.3560C>G |
p.Pro1187Arg |
Missense |
24/63 |
- |
1 |
11-108151893-AAAG-A |
c.3574_3576del |
p.Lys1192del |
InFrameDeletion |
24/63 |
- |
1 |
11-108151895-G-A |
c.3576G>A |
p.Lys1192Lys |
Synonymous |
24/63 |
- |
4 |
11-108152582-C-T |
c.3576+687C>T |
- |
IntronicSNV |
- |
24/62 |
4 |
11-108152582-C-G |
c.3576+687C>G |
- |
IntronicSNV |
- |
24/62 |
4 |
11-108153449-GTT-ATG |
c.3589_3591delinsATG |
p.Val1197Met |
Missense |
25/63 |
- |
1 |
11-108153450-T-C |
c.3590T>C |
p.Val1197Ala |
Missense |
25/63 |
- |
1 |
11-108153469-AT-A |
c.3609del |
p.Tyr1203* |
Frameshift |
25/63 |
- |
1 |
11-108153473-C-T |
c.3613C>T |
p.Arg1205Cys |
Missense |
25/63 |
- |
1 |
11-108153476-T-G |
c.3616T>G |
p.Leu1206Val |
Missense |
25/63 |
- |
1 |
11-108153506-T-C |
c.3646T>C |
p.Tyr1216His |
Missense |
25/63 |
- |
1 |
11-108153523-G-A |
c.3663G>A |
p.Trp1221* |
Nonsense |
25/63 |
- |
1 |
11-108153527-A-G |
c.3667A>G |
p.Asn1223Asp |
Missense |
25/63 |
- |
1 |
11-108153528-A-G |
c.3668A>G |
p.Asn1223Ser |
Missense |
25/63 |
- |
1 |
11-108153533-C-T |
c.3673C>T |
p.Gln1225* |
Nonsense |
25/63 |
- |
2 |
11-108153563-C-T |
c.3703C>T |
p.Pro1235Ser |
Missense |
25/63 |
- |
1 |
11-108153572-TTTATT-T |
c.3712_3716del |
p.Leu1238Lysfs*6 |
Frameshift |
25/63 |
- |
2 |
11-108153573-T-A |
c.3713T>A |
p.Leu1238* |
Nonsense |
25/63 |
- |
1 |
11-108153573-T-G |
c.3713T>G |
p.Leu1238* |
Nonsense |
25/63 |
- |
1 |
11-108153583-C-G |
c.3723C>G |
p.Tyr1241* |
Nonsense |
25/63 |
- |
1 |
11-108153583-C-A |
c.3723C>A |
p.Tyr1241* |
Nonsense |
25/63 |
- |
1 |
11-108153584-ACA-TGT |
c.3724_3726inv |
p.Thr1242Cys |
Missense |
25/63 |
- |
1 |
11-108153602-T-TGGAGGTTCT |
c.3742_3743insGGAGGTTCT |
p.Phe1247_Tyr1248insTrpArgPhe |
InFrameInsertion |
25/63 |
- |
1 |
11-108153603-A-G |
c.3743A>G |
p.Tyr1248Cys |
Missense |
25/63 |
- |
1 |
11-108154097-G-C |
c.3746+491G>C |
- |
IntronicSNV |
- |
25/62 |
3 |
11-108154953-G-A |
c.3747-1G>A |
- |
IntronicSNV |
- |
25/62 |
1 |
11-108154965-A-G |
c.3758A>G |
p.Lys1253Arg |
Missense |
26/63 |
- |
1 |
11-108154966-G-T |
c.3759G>T |
p.Lys1253Asn |
Missense |
26/63 |
- |
1 |
11-108155005-T-TT |
c.3798dup |
p.Glu1267* |
Nonsense |
26/63 |
- |
3 |
11-108155009-GG-G |
c.3802del |
p.Val1268* |
Frameshift |
26/63 |
- |
10 |
11-108155013-A-G |
c.3806A>G |
p.Lys1269Arg |
Missense |
26/63 |
- |
1 |
11-108155057-AA-A |
c.3850del |
p.Thr1284Glnfs*9 |
Frameshift |
26/63 |
- |
1 |
11-108155085-A-G |
c.3878A>G |
p.Asn1293Ser |
Missense |
26/63 |
- |
1 |
11-108155093-C-T |
c.3886C>T |
p.Pro1296Ser |
Missense |
26/63 |
- |
2 |
11-108155101-T-TT |
c.3894dup |
p.Ala1299Cysfs*3 |
Frameshift |
26/63 |
- |
1 |
11-108155109-A-G |
c.3902A>G |
p.Glu1301Gly |
Missense |
26/63 |
- |
1 |
11-108155116-C-CC |
c.3909dup |
p.Arg1304Glnfs*17 |
Frameshift |
26/63 |
- |
1 |
11-108155117-A-C |
c.3910A>C |
p.Arg1304Arg |
Synonymous |
26/63 |
- |
1 |
11-108155119-A-G |
c.3912A>G |
p.Arg1304Arg |
Synonymous |
26/63 |
- |
2 |
11-108155132-G-A |
c.3925G>A |
p.Ala1309Thr |
Missense |
26/63 |
- |
8 |
11-108155141-A-G |
c.3934A>G |
p.Arg1312Gly |
Missense |
26/63 |
- |
1 |
11-108155143-A-AT |
c.3936_3937insT |
p.Glu1313* |
Nonsense |
26/63 |
- |
1 |
11-108155151-C-T |
c.3944C>T |
p.Ala1315Val |
Missense |
26/63 |
- |
1 |
11-108155175-A-G |
c.3968A>G |
p.Lys1323Arg |
Missense |
26/63 |
- |
1 |
11-108155175-A-T |
c.3968A>T |
p.Lys1323Ile |
Missense |
26/63 |
- |
1 |
11-108155185-C-A |
c.3978C>A |
p.Asn1326Lys |
Missense |
26/63 |
- |
1 |
11-108155187-T-G |
c.3980T>G |
p.Leu1327* |
Nonsense |
26/63 |
- |
2 |
11-108155187-T-A |
c.3980T>A |
p.Leu1327* |
Nonsense |
26/63 |
- |
2 |
11-108155193-G-C |
c.3986G>C |
p.Gly1329Ala |
Missense |
26/63 |
- |
1 |
11-108155200-G-T |
c.3993G>T |
p.Gln1331His |
Missense |
26/63 |
- |
1 |
11-108155200-G-C |
c.3993G>C |
p.Gln1331His |
Missense |
26/63 |
- |
1 |
11-108155201-G-A |
c.3993+1G>A |
- |
IntronicSNV |
- |
26/62 |
2 |
11-108155205-G-T |
c.3993+5G>T |
- |
IntronicSNV |
- |
26/62 |
3 |
11-108158134-T-C |
c.3994-193T>C |
- |
IntronicSNV |
- |
26/62 |
12 |
11-108158230-G-T |
c.3994-97G>T |
- |
IntronicSNV |
- |
26/62 |
3 |
11-108158230-G-A |
c.3994-97G>A |
- |
IntronicSNV |
- |
26/62 |
3 |
11-108158285-G-T |
c.3994-42G>T |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158286-A-G |
c.3994-41A>G |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158286-A-T |
c.3994-41A>T |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158288-A-G |
c.3994-39A>G |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158289-T-C |
c.3994-38T>C |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158325-A-G |
c.3994-2A>G |
- |
IntronicSNV |
- |
26/62 |
1 |
11-108158340-T-TA |
c.4007_4008insA |
p.Phe1336Leufs*3 |
Frameshift |
27/63 |
- |
1 |
11-108158373-TT-T |
c.4040del |
p.Leu1347Tyrfs*2 |
Frameshift |
27/63 |
- |
1 |
11-108158382-C-T |
c.4049C>T |
p.Thr1350Met |
Missense |
27/63 |
- |
1 |
11-108158393-C-A |
c.4060C>A |
p.Pro1354Thr |
Missense |
27/63 |
- |
1 |
11-108158414-C-T |
c.4081C>T |
p.Gln1361* |
Nonsense |
27/63 |
- |
1 |
11-108158415-A-G |
c.4082A>G |
p.Gln1361Arg |
Missense |
27/63 |
- |
1 |
11-108158420-AC-GG |
c.4087_4088delinsGG |
p.Thr1363Gly |
Missense |
27/63 |
- |
1 |
11-108158438-T-G |
c.4105T>G |
p.Ser1369Ala |
Missense |
27/63 |
- |
5 |
11-108158439-C-A |
c.4106C>A |
p.Ser1369* |
Nonsense |
27/63 |
- |
1 |
11-108158439-C-G |
c.4106C>G |
p.Ser1369* |
Nonsense |
27/63 |
- |
1 |
11-108159051-G-T |
c.4109+609G>T |
- |
IntronicSNV |
- |
27/62 |
1 |
11-108159705-G-GG |
c.4111dup |
p.Asp1371Glyfs*7 |
SpliceAcceptorInsertion |
28/63 |
- |
1 |
11-108159705-GG-G |
c.4111del |
p.Asp1371Ilefs*15 |
Frameshift |
28/63 |
- |
1 |
11-108159732-C-T |
c.4138C>T |
p.His1380Tyr |
Missense |
28/63 |
- |
11 |
11-108159734-T-C |
c.4140T>C |
p.His1380His |
Synonymous |
28/63 |
- |
1 |
11-108159737-T-TT |
c.4143dup |
p.Pro1382Serfs*6 |
Frameshift |
28/63 |
- |
1 |
11-108159742-C-T |
c.4148C>T |
p.Ser1383Leu |
Missense |
28/63 |
- |
2 |
11-108159801-AG-CC |
c.4207_4208delinsCC |
p.Ser1403Pro |
Missense |
28/63 |
- |
1 |
11-108159801-AG-GA |
c.4207_4208delinsGA |
p.Ser1403Asp |
Missense |
28/63 |
- |
1 |
11-108159801-AG-GC |
c.4207_4208delinsGC |
p.Ser1403Ala |
Missense |
28/63 |
- |
2 |
11-108160329-G-A |
c.4237G>A |
p.Asp1413Asn |
Missense |
29/63 |
- |
1 |
11-108160350-C-T |
c.4258C>T |
p.Leu1420Phe |
Missense |
29/63 |
- |
27 |
11-108160398-C-T |
c.4306C>T |
p.His1436Tyr |
Missense |
29/63 |
- |
1 |
11-108160416-T-C |
c.4324T>C |
p.Tyr1442His |
Missense |
29/63 |
- |
3 |
11-108160421-C-A |
c.4329C>A |
p.His1443Gln |
Missense |
29/63 |
- |
1 |
11-108160438-T-A |
c.4346T>A |
p.Leu1449* |
Nonsense |
29/63 |
- |
1 |
11-108160438-T-G |
c.4346T>G |
p.Leu1449* |
Nonsense |
29/63 |
- |
1 |
11-108160440-C-T |
c.4348C>T |
p.Leu1450Leu |
Synonymous |
29/63 |
- |
1 |
11-108160441-T-C |
c.4349T>C |
p.Leu1450Pro |
Missense |
29/63 |
- |
1 |
11-108160454-A-T |
c.4362A>T |
p.Lys1454Asn |
Missense |
29/63 |
- |
3 |
11-108160454-A-C |
c.4362A>C |
p.Lys1454Asn |
Missense |
29/63 |
- |
3 |
11-108160457-T-C |
c.4365T>C |
p.Ser1455Ser |
Synonymous |
29/63 |
- |
1 |
11-108160462-T-G |
c.4370T>G |
p.Leu1457* |
Nonsense |
29/63 |
- |
1 |
11-108160462-T-A |
c.4370T>A |
p.Leu1457* |
Nonsense |
29/63 |
- |
1 |
11-108160467-G-A |
c.4375G>A |
p.Gly1459Arg |
Missense |
29/63 |
- |
2 |
11-108160468-GA-AC |
c.4376_4377delinsAC |
p.Gly1459Asp |
Missense |
29/63 |
- |
2 |
11-108160480-T-G |
c.4388T>G |
p.Phe1463Cys |
Missense |
29/63 |
- |
12 |
11-108160486-T-C |
c.4394T>C |
p.Leu1465Pro |
Missense |
29/63 |
- |
1 |
11-108160488-C-T |
c.4396C>T |
p.Arg1466* |
Nonsense |
29/63 |
- |
5 |
11-108160488-C-G |
c.4396C>G |
p.Arg1466Gly |
Missense |
29/63 |
- |
1 |
11-108160507-T-TT |
c.4415dup |
p.Leu1472Phefs*19 |
Frameshift |
29/63 |
- |
1 |
11-108160508-G-T |
c.4416G>T |
p.Leu1472Phe |
Missense |
29/63 |
- |
1 |
11-108160508-G-C |
c.4416G>C |
p.Leu1472Phe |
Missense |
29/63 |
- |
1 |
11-108160512-C-G |
c.4420C>G |
p.His1474Asp |
Missense |
29/63 |
- |
1 |
11-108160516-A-G |
c.4424A>G |
p.Tyr1475Cys |
Missense |
29/63 |
- |
5 |
11-108161202-T-A |
c.4436+674T>A |
- |
IntronicSNV |
- |
29/62 |
3 |
11-108163380-T-G |
c.4471T>G |
p.Phe1491Val |
Missense |
30/63 |
- |
1 |
11-108163386-C-G |
c.4477C>G |
p.Leu1493Val |
Missense |
30/63 |
- |
1 |
11-108163393-G-T |
c.4484G>T |
p.Cys1495Phe |
Missense |
30/63 |
- |
1 |
11-108163400-A-C |
c.4491A>C |
p.Leu1497Phe |
Missense |
30/63 |
- |
1 |
11-108163400-A-T |
c.4491A>T |
p.Leu1497Phe |
Missense |
30/63 |
- |
1 |
11-108163416-C-T |
c.4507C>T |
p.Gln1503* |
Nonsense |
30/63 |
- |
1 |
11-108163443-G-T |
c.4534G>T |
p.Ala1512Ser |
Missense |
30/63 |
- |
1 |
11-108163443-G-A |
c.4534G>A |
p.Ala1512Thr |
Missense |
30/63 |
- |
1 |
11-108163473-G-C |
c.4564G>C |
p.Gly1522Arg |
Missense |
30/63 |
- |
2 |
11-108163487-C-T |
c.4578C>T |
p.Pro1526Pro |
Synonymous |
30/63 |
- |
15 |
11-108163487-C-A |
c.4578C>A |
p.Pro1526Pro |
Synonymous |
30/63 |
- |
7 |
11-108163487-C-G |
c.4578C>G |
p.Pro1526Pro |
Synonymous |
30/63 |
- |
7 |
11-108163497-G-T |
c.4588G>T |
p.Glu1530* |
Nonsense |
30/63 |
- |
1 |
11-108163506-G-C |
c.4597G>C |
p.Glu1533Gln |
Missense |
30/63 |
- |
1 |
11-108163518-C-T |
c.4609C>T |
p.Gln1537* |
Nonsense |
30/63 |
- |
1 |
11-108163733-A-T |
c.4611+213A>T |
- |
IntronicSNV |
- |
30/62 |
1 |
11-108163733-A-C |
c.4611+213A>C |
- |
IntronicSNV |
- |
30/62 |
1 |
11-108163733-A-G |
c.4611+213A>G |
- |
IntronicSNV |
- |
30/62 |
1 |
11-108164043-ATTGGACTTGTTGAAATACTTAGTGATAGATAACAAGGATAATGAAAACCTCTATATCAC-A |
c.4615_4673del |
p.Leu1539Aspfs*2 |
InFrameDeletion |
31/63 |
- |
1 |
11-108164070-GAT-ATG |
c.4642_4644delinsATG |
p.Asp1548Met |
Missense |
31/63 |
- |
1 |
11-108164085-G-A |
c.4657G>A |
p.Glu1553Lys |
Missense |
31/63 |
- |
1 |
11-108164092-T-A |
c.4664T>A |
p.Leu1555His |
Missense |
31/63 |
- |
1 |
11-108164101-C-T |
c.4673C>T |
p.Thr1558Met |
Missense |
31/63 |
- |
1 |
11-108164137-T-C |
c.4709T>C |
p.Val1570Ala |
Missense |
31/63 |
- |
1 |
11-108164143-A-G |
c.4715A>G |
p.Lys1572Arg |
Missense |
31/63 |
- |
1 |
11-108164150-G-T |
c.4722G>T |
p.Leu1574Phe |
Missense |
31/63 |
- |
1 |
11-108164150-G-C |
c.4722G>C |
p.Leu1574Phe |
Missense |
31/63 |
- |
1 |
11-108164169-A-AA |
c.4741dup |
p.Ile1581Asnfs*5 |
Frameshift |
31/63 |
- |
1 |
11-108164183-A-T |
c.4755A>T |
p.Arg1585Ser |
Missense |
31/63 |
- |
1 |
11-108164183-A-C |
c.4755A>C |
p.Arg1585Ser |
Missense |
31/63 |
- |
1 |
11-108164185-G-C |
c.4757G>C |
p.Gly1586Ala |
Missense |
31/63 |
- |
1 |
11-108164196-C-T |
c.4768C>T |
p.Leu1590Phe |
Missense |
31/63 |
- |
2 |
11-108164204-G-C |
c.4776G>C |
p.Glu1592Asp |
Missense |
31/63 |
- |
1 |
11-108164204-G-T |
c.4776G>T |
p.Glu1592Asp |
Missense |
31/63 |
- |
1 |
11-108164206-T-A |
c.4776+2T>A |
- |
IntronicSNV |
- |
31/62 |
1 |
11-108164206-T-C |
c.4776+2T>C |
- |
IntronicSNV |
- |
31/62 |
2 |
11-108165676-GT-G |
c.4799del |
p.Val1600Glufs*9 |
Frameshift |
32/63 |
- |
1 |
11-108165719-A-ACT |
c.4842_4843insCT |
p.Lys1615Leufs*19 |
Frameshift |
32/63 |
- |
1 |
11-108165729-C-T |
c.4852C>T |
p.Arg1618* |
Nonsense |
32/63 |
- |
2 |
11-108165732-A-G |
c.4855A>G |
p.Arg1619Gly |
Missense |
32/63 |
- |
1 |
11-108165747-C-T |
c.4870C>T |
p.His1624Tyr |
Missense |
32/63 |
- |
1 |
11-108165771-A-G |
c.4894A>G |
p.Met1632Val |
Missense |
32/63 |
- |
1 |
11-108165774-A-G |
c.4897A>G |
p.Arg1633Gly |
Missense |
32/63 |
- |
1 |
11-108165783-C-T |
c.4906C>T |
p.Gln1636* |
Nonsense |
32/63 |
- |
1 |
11-108165787-G-A |
c.4909+1G>A |
- |
IntronicSNV |
- |
32/62 |
3 |
11-108168007-T-C |
c.4910-7T>C |
- |
IntronicSNV |
- |
32/62 |
1 |
11-108168007-T-A |
c.4910-7T>A |
- |
IntronicSNV |
- |
32/62 |
1 |
11-108168053-A-G |
c.4949A>G |
p.Asn1650Ser |
Missense |
33/63 |
- |
2 |
11-108168068-C-A |
c.4964C>A |
p.Ser1655Tyr |
Missense |
33/63 |
- |
1 |
11-108168863-A-G |
c.5005+754A>G |
- |
IntronicSNV |
- |
33/62 |
3 |
11-108168995-A-C |
c.5005+886A>C |
- |
IntronicSNV |
- |
33/62 |
6 |
11-108170442-G-T |
c.5007G>T |
p.Glu1669Asp |
Missense |
34/63 |
- |
1 |
11-108170450-G-C |
c.5015G>C |
p.Gly1672Ala |
Missense |
34/63 |
- |
1 |
11-108170474-C-T |
c.5039C>T |
p.Pro1680Leu |
Missense |
34/63 |
- |
1 |
11-108170477-T-C |
c.5042T>C |
p.Ile1681Thr |
Missense |
34/63 |
- |
1 |
11-108170479-G-T |
c.5044G>T |
p.Asp1682Tyr |
Missense |
34/63 |
- |
1 |
11-108170506-A-T |
c.5071A>T |
p.Ser1691Cys |
Missense |
34/63 |
- |
1 |
11-108170506-A-C |
c.5071A>C |
p.Ser1691Arg |
Missense |
34/63 |
- |
9 |
11-108170512-G-A |
c.5077G>A |
p.Asp1693Asn |
Missense |
34/63 |
- |
1 |
11-108170525-C-T |
c.5090C>T |
p.Thr1697Ile |
Missense |
34/63 |
- |
1 |
11-108170527-A-T |
c.5092A>T |
p.Lys1698* |
Nonsense |
34/63 |
- |
1 |
11-108170531-C-T |
c.5096C>T |
p.Ala1699Val |
Missense |
34/63 |
- |
1 |
11-108170547-A-T |
c.5112A>T |
p.Glu1704Asp |
Missense |
34/63 |
- |
1 |
11-108170547-A-C |
c.5112A>C |
p.Glu1704Asp |
Missense |
34/63 |
- |
1 |
11-108170553-AAGAA-A |
c.5118_5121del |
p.Lys1706Asnfs*7 |
Frameshift |
34/63 |
- |
1 |
11-108170591-AA-A |
c.5156del |
p.Asn1719Ilefs*5 |
Frameshift |
34/63 |
- |
1 |
11-108170605-G-T |
c.5170G>T |
p.Glu1724* |
Nonsense |
34/63 |
- |
1 |
11-108172385-C-T |
c.5188C>T |
p.Arg1730* |
Nonsense |
35/63 |
- |
2 |
11-108172386-G-T |
c.5189G>T |
p.Arg1730Leu |
Missense |
35/63 |
- |
1 |
11-108172386-G-A |
c.5189G>A |
p.Arg1730Gln |
Missense |
35/63 |
- |
1 |
11-108172415-A-G |
c.5218A>G |
p.Ile1740Val |
Missense |
35/63 |
- |
1 |
11-108172422-C-T |
c.5225C>T |
p.Ala1742Val |
Missense |
35/63 |
- |
1 |
11-108172425-C-T |
c.5228C>T |
p.Thr1743Ile |
Missense |
35/63 |
- |
3 |
11-108172426-A-G |
c.5229A>G |
p.Thr1743Thr |
Synonymous |
35/63 |
- |
1 |
11-108172447-G-A |
c.5250G>A |
p.Trp1750* |
Nonsense |
35/63 |
- |
1 |
11-108172446-G-A |
c.5249G>A |
p.Trp1750* |
Nonsense |
35/63 |
- |
1 |
11-108172463-A-G |
c.5266A>G |
p.Thr1756Ala |
Missense |
35/63 |
- |
1 |
11-108172463-A-T |
c.5266A>T |
p.Thr1756Ser |
Missense |
35/63 |
- |
1 |
11-108172464-C-T |
c.5267C>T |
p.Thr1756Ile |
Missense |
35/63 |
- |
1 |
11-108172468-A-AT |
c.5271_5272insT |
p.Asp1758* |
Nonsense |
35/63 |
- |
1 |
11-108172485-A-AGA |
c.5288_5289insGA |
p.Tyr1763* |
Nonsense |
35/63 |
- |
1 |
11-108172499-AG-CT |
c.5302_5303inv |
p.Arg1768Leu |
Missense |
35/63 |
- |
1 |
11-108172507-A-AT |
c.5310_5311insT |
p.Arg1771* |
Nonsense |
35/63 |
- |
1 |
11-108173631-G-A |
c.5371G>A |
p.Asp1791Asn |
Missense |
36/63 |
- |
1 |
11-108173661-A-T |
c.5401A>T |
p.Asn1801Tyr |
Missense |
36/63 |
- |
1 |
11-108173661-A-G |
c.5401A>G |
p.Asn1801Asp |
Missense |
36/63 |
- |
1 |
11-108173674-G-A |
c.5414G>A |
p.Trp1805* |
Nonsense |
36/63 |
- |
1 |
11-108173675-G-A |
c.5415G>A |
p.Trp1805* |
Nonsense |
36/63 |
- |
1 |
11-108173695-C-T |
c.5435C>T |
p.Ala1812Val |
Missense |
36/63 |
- |
1 |
11-108173701-TT-T |
c.5441del |
p.Leu1814Trpfs*14 |
Frameshift |
36/63 |
- |
3 |
11-108173702-G-C |
c.5442G>C |
p.Leu1814Phe |
Missense |
36/63 |
- |
1 |
11-108173702-G-T |
c.5442G>T |
p.Leu1814Phe |
Missense |
36/63 |
- |
1 |
11-108173724-G-C |
c.5464G>C |
p.Glu1822Gln |
Missense |
36/63 |
- |
1 |
11-108173730-C-T |
c.5470C>T |
p.Leu1824Phe |
Missense |
36/63 |
- |
1 |
11-108173731-T-C |
c.5471T>C |
p.Leu1824Pro |
Missense |
36/63 |
- |
1 |
11-108173731-T-G |
c.5471T>G |
p.Leu1824Arg |
Missense |
36/63 |
- |
1 |
11-108173748-A-G |
c.5488A>G |
p.Met1830Val |
Missense |
36/63 |
- |
1 |
11-108173758-T-C |
c.5496+2T>C |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175110-T-C |
c.5497-292T>C |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175387-G-T |
c.5497-15G>T |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175387-G-C |
c.5497-15G>C |
- |
IntronicSNV |
- |
36/62 |
2 |
11-108175394-T-C |
c.5497-8T>C |
- |
IntronicSNV |
- |
36/62 |
5 |
11-108175398-C-G |
c.5497-4C>G |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175400-A-C |
c.5497-2A>C |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175401-G-C |
c.5497-1G>C |
- |
IntronicSNV |
- |
36/62 |
1 |
11-108175406-A-G |
c.5501A>G |
p.Lys1834Arg |
Missense |
37/63 |
- |
1 |
11-108175414-T-G |
c.5509T>G |
p.Phe1837Val |
Missense |
37/63 |
- |
1 |
11-108175416-TTT-T |
c.5511_5512del |
p.Phe1837Leufs*11 |
Frameshift |
37/63 |
- |
1 |
11-108175420-C-T |
c.5515C>T |
p.Gln1839* |
Nonsense |
37/63 |
- |
1 |
11-108175433-CC-C |
c.5528del |
p.Pro1843Hisfs*3 |
Frameshift |
37/63 |
- |
1 |
11-108175454-TT-T |
c.5549del |
p.Leu1850Tyrfs*67 |
Frameshift |
37/63 |
- |
2 |
11-108175459-C-T |
c.5554C>T |
p.Gln1852* |
Nonsense |
37/63 |
- |
1 |
11-108175462-GAT-CAA |
c.5557_5559delinsCAA |
p.Asp1853Gln |
Missense |
37/63 |
- |
2 |
11-108175462-G-A |
c.5557G>A |
p.Asp1853Asn |
Missense |
37/63 |
- |
142 |
11-108175463-A-T |
c.5558A>T |
p.Asp1853Val |
Missense |
37/63 |
- |
24 |
11-108175471-G-C |
c.5566G>C |
p.Glu1856Gln |
Missense |
37/63 |
- |
1 |
11-108175478-G-A |
c.5573G>A |
p.Trp1858* |
Nonsense |
37/63 |
- |
2 |
11-108175490-T-A |
c.5585T>A |
p.Leu1862His |
Missense |
37/63 |
- |
2 |
11-108175504-C-T |
c.5599C>T |
p.Gln1867* |
Nonsense |
37/63 |
- |
1 |
11-108175505-A-C |
c.5600A>C |
p.Gln1867Pro |
Missense |
37/63 |
- |
1 |
11-108175528-C-T |
c.5623C>T |
p.Arg1875* |
Nonsense |
37/63 |
- |
7 |
11-108175537-TCG-GAC |
c.5632_5634delinsGAC |
p.Ser1878Asp |
Missense |
37/63 |
- |
1 |
11-108175538-C-T |
c.5633C>T |
p.Ser1878Leu |
Missense |
37/63 |
- |
1 |
11-108175549-C-T |
c.5644C>T |
p.Arg1882* |
Nonsense |
37/63 |
- |
5 |
11-108175555-CACAACCCC-C |
c.5650_5657del |
p.Thr1884Cysfs*17 |
Frameshift |
37/63 |
- |
1 |
11-108175565-C-T |
c.5660C>T |
p.Ala1887Val |
Missense |
37/63 |
- |
1 |
11-108175576-T-G |
c.5671T>G |
p.Ser1891Ala |
Missense |
37/63 |
- |
1 |
11-108175580-G-T |
c.5674+1G>T |
- |
IntronicSNV |
- |
37/62 |
1 |
11-108177097-T-A |
c.5674+1518T>A |
- |
IntronicSNV |
- |
37/62 |
5 |
11-108177097-T-C |
c.5674+1518T>C |
- |
IntronicSNV |
- |
37/62 |
5 |
11-108177538-C-T |
c.5675-1086C>T |
- |
IntronicSNV |
- |
37/62 |
1 |
11-108178624-GAGTCAGAGCACTTTTTCCGATGCTGTTTGGATAAAAAATCACAAAGAACAATGCTTGCT-G |
c.5675_5733del |
p.Glu1892Glyfs*18 |
Unclassified |
38/63 |
- |
1 |
11-108178626-T-C |
c.5677T>C |
p.Ser1893Pro |
Missense |
38/63 |
- |
1 |
11-108178626-TC-GA |
c.5677_5678inv |
p.Ser1893Glu |
Missense |
38/63 |
- |
1 |
11-108178626-T-G |
c.5677T>G |
p.Ser1893Ala |
Missense |
38/63 |
- |
5 |
11-108178641-C-T |
c.5692C>T |
p.Arg1898* |
Nonsense |
38/63 |
- |
3 |
11-108178642-G-A |
c.5693G>A |
p.Arg1898Gln |
Missense |
38/63 |
- |
1 |
11-108178646-C-CA |
c.5697_5698insA |
p.Cys1900Metfs*4 |
Frameshift |
38/63 |
- |
1 |
11-108178646-C-A |
c.5697C>A |
p.Cys1899* |
Nonsense |
38/63 |
- |
1 |
11-108178647-TG-AC |
c.5698_5699delinsAC |
p.Cys1900Thr |
Missense |
38/63 |
- |
1 |
11-108178652-G-GT |
c.5703_5704insT |
p.Asp1902* |
Nonsense |
38/63 |
- |
1 |
11-108178653-GGA-G |
c.5704_5705del |
p.Asp1902* |
Frameshift |
38/63 |
- |
1 |
11-108178661-A-AA |
c.5712dup |
p.Ser1905Ilefs*25 |
Frameshift |
38/63 |
- |
5 |
11-108178663-C-A |
c.5714C>A |
p.Ser1905* |
Nonsense |
38/63 |
- |
1 |
11-108178663-C-G |
c.5714C>G |
p.Ser1905* |
Nonsense |
38/63 |
- |
1 |
11-108178665-C-T |
c.5716C>T |
p.Gln1906* |
Nonsense |
38/63 |
- |
1 |
11-108178690-A-G |
c.5741A>G |
p.Asp1914Gly |
Missense |
38/63 |
- |
1 |
11-108178699-G-A |
c.5750G>A |
p.Arg1917Lys |
Missense |
38/63 |
- |
1 |
11-108178699-G-C |
c.5750G>C |
p.Arg1917Thr |
Missense |
38/63 |
- |
2 |
11-108178705-A-C |
c.5756A>C |
p.Gln1919Pro |
Missense |
38/63 |
- |
6 |
11-108178712-G-C |
c.5762+1G>C |
- |
IntronicSNV |
- |
38/62 |
1 |
11-108178738-G-A |
c.5762+27G>A |
- |
IntronicSNV |
- |
38/62 |
1 |
11-108179837-A-G |
c.5763-1050A>G |
- |
IntronicSNV |
- |
38/62 |
3 |
11-108180887-A-AT |
c.5763_5764insT |
p.Pro1922Serfs*8 |
SpliceAcceptorInsertion |
39/63 |
- |
1 |
11-108180887-A-AA |
c.5763dup |
p.Pro1922Thrfs*8 |
SpliceAcceptorInsertion |
39/63 |
- |
1 |
11-108180887-A-AG |
c.5763_5764insG |
p.Pro1922Alafs*8 |
SpliceAcceptorInsertion |
39/63 |
- |
1 |
11-108180895-C-A |
c.5771C>A |
p.Ser1924* |
Nonsense |
39/63 |
- |
1 |
11-108180895-C-G |
c.5771C>G |
p.Ser1924* |
Nonsense |
39/63 |
- |
1 |
11-108180898-GG-G |
c.5774del |
p.Gly1925Glufs*12 |
Frameshift |
39/63 |
- |
1 |
11-108180908-TT-T |
c.5784del |
p.Phe1928Leufs*9 |
Frameshift |
39/63 |
- |
1 |
11-108180917-T-G |
c.5793T>G |
p.Ala1931Ala |
Synonymous |
39/63 |
- |
7 |
11-108180917-T-C |
c.5793T>C |
p.Ala1931Ala |
Synonymous |
39/63 |
- |
8 |
11-108180932-A-T |
c.5808A>T |
p.Leu1936Phe |
Missense |
39/63 |
- |
1 |
11-108180939-C-G |
c.5815C>G |
p.Leu1939Val |
Missense |
39/63 |
- |
1 |
11-108180942-G-T |
c.5818G>T |
p.Glu1940* |
Nonsense |
39/63 |
- |
1 |
11-108180945-G-C |
c.5821G>C |
p.Val1941Leu |
Missense |
39/63 |
- |
1 |
11-108180949-C-T |
c.5825C>T |
p.Ala1942Val |
Missense |
39/63 |
- |
1 |
11-108180954-G-A |
c.5830G>A |
p.Val1944Ile |
Missense |
39/63 |
- |
1 |
11-108180958-GCTCAGTCTTGTGCTGCTCACT-G |
c.5834_5854del |
p.Ala1945_Phe1952delinsVal |
MultiAAMissense |
39/63 |
- |
1 |
11-108180964-C-T |
c.5840C>T |
p.Ser1947Phe |
Missense |
39/63 |
- |
1 |
11-108180982-C-T |
c.5858C>T |
p.Thr1953Ile |
Missense |
39/63 |
- |
1 |
11-108181011-G-A |
c.5887G>A |
p.Asp1963Asn |
Missense |
39/63 |
- |
1 |
11-108181032-C-T |
c.5908C>T |
p.Gln1970* |
Nonsense |
39/63 |
- |
4 |
11-108181035-G-A |
c.5911G>A |
p.Glu1971Lys |
Missense |
39/63 |
- |
1 |
11-108181036-A-G |
c.5912A>G |
p.Glu1971Gly |
Missense |
39/63 |
- |
1 |
11-108181079-T-C |
c.5918+37T>C |
- |
IntronicSNV |
- |
39/62 |
1 |
11-108181511-A-T |
c.5918+469A>T |
- |
IntronicSNV |
- |
39/62 |
1 |
11-108181511-A-C |
c.5918+469A>C |
- |
IntronicSNV |
- |
39/62 |
1 |
11-108182069-G-A |
c.5918+1027G>A |
- |
IntronicSNV |
- |
39/62 |
1 |
11-108183089-C-T |
c.5919-49C>T |
- |
IntronicSNV |
- |
39/62 |
1 |
11-108183151-G-T |
c.5932G>T |
p.Glu1978* |
Nonsense |
40/63 |
- |
29 |
11-108183152-A-T |
c.5933A>T |
p.Glu1978Val |
Missense |
40/63 |
- |
1 |
11-108183160-AG-CC |
c.5941_5942delinsCC |
p.Ser1981Pro |
Missense |
40/63 |
- |
43 |
11-108183160-AG-GA |
c.5941_5942delinsGA |
p.Ser1981Asp |
Missense |
40/63 |
- |
1 |
11-108183160-AG-GC |
c.5941_5942delinsGC |
p.Ser1981Ala |
Missense |
40/63 |
- |
25 |
11-108183160-AGC-GAG |
c.5941_5943delinsGAG |
p.Ser1981Glu |
Missense |
40/63 |
- |
1 |
11-108183162-C-T |
c.5943C>T |
p.Ser1981Ser |
Synonymous |
40/63 |
- |
1 |
11-108183167-A-G |
c.5948A>G |
p.Ser1983Ser |
Missense |
40/63 |
- |
4 |
11-108183172-A-G |
c.5953A>G |
p.Thr1985Ala |
Missense |
40/63 |
- |
1 |
11-108183172-ACT-GAG |
c.5953_5955delinsGAG |
p.Thr1985Glu |
Missense |
40/63 |
- |
1 |
11-108183173-C-T |
c.5954C>T |
p.Thr1985Ile |
Missense |
40/63 |
- |
1 |
11-108183175-A-G |
c.5956A>G |
p.Ile1986Val |
Missense |
40/63 |
- |
1 |
11-108183178-T-C |
c.5959T>C |
p.Ser1987Pro |
Missense |
40/63 |
- |
5 |
11-108183178-T-G |
c.5959T>G |
p.Ser1987Ala |
Missense |
40/63 |
- |
11 |
11-108183178-TC-GA |
c.5959_5960inv |
p.Ser1987Asp |
Missense |
40/63 |
- |
1 |
11-108183181-AG-GA |
c.5962_5963delinsGA |
p.Ser1988Asp |
Missense |
40/63 |
- |
1 |
11-108183181-AG-GC |
c.5962_5963delinsGC |
p.Ser1988Ala |
Missense |
40/63 |
- |
1 |
11-108183191-A-G |
c.5972A>G |
p.Glu1991Gly |
Missense |
40/63 |
- |
1 |
11-108183194-A-C |
c.5975A>C |
p.Lys1992Thr |
Missense |
40/63 |
- |
1 |
11-108183198-GTAAAG-G |
c.5979_5983del |
p.Ser1993Argfs*23 |
Frameshift |
40/63 |
- |
2 |
11-108183223-C-T |
c.6004C>T |
p.Gln2002* |
Nonsense |
40/63 |
- |
1 |
11-108185949-A-G |
c.6007-601A>G |
- |
IntronicSNV |
- |
40/62 |
1 |
11-108186548-A-T |
c.6007-2A>T |
- |
IntronicSNV |
- |
40/62 |
1 |
11-108186555-T-TA |
c.6012_6013insA |
p.Leu2005Thrfs*13 |
Frameshift |
41/63 |
- |
1 |
11-108186556-C-G |
c.6013C>G |
p.Leu2005Val |
Missense |
41/63 |
- |
1 |
11-108186582-G-A |
c.6039G>A |
p.Gly2013Gly |
Synonymous |
41/63 |
- |
1 |
11-108186583-G-T |
c.6040G>T |
p.Glu2014* |
Nonsense |
41/63 |
- |
1 |
11-108186583-G-A |
c.6040G>A |
p.Glu2014Lys |
Missense |
41/63 |
- |
1 |
11-108186590-A-G |
c.6047A>G |
p.Asp2016Gly |
Missense |
41/63 |
- |
3 |
11-108186593-G-T |
c.6050G>T |
p.Ser2017Ile |
Missense |
41/63 |
- |
1 |
11-108186610-G-A |
c.6067G>A |
p.Gly2023Arg |
Missense |
41/63 |
- |
12 |
11-108186613-G-C |
c.6070G>C |
p.Gly2024Arg |
Missense |
41/63 |
- |
1 |
11-108186613-G-A |
c.6070G>A |
p.Gly2024Arg |
Missense |
41/63 |
- |
1 |
11-108186617-A-G |
c.6074A>G |
p.Lys2025Arg |
Missense |
41/63 |
- |
1 |
11-108186626-A-G |
c.6083A>G |
p.Gln2028Arg |
Missense |
41/63 |
- |
1 |
11-108186631-A-G |
c.6088A>G |
p.Ile2030Val |
Missense |
41/63 |
- |
1 |
11-108186638-G-A |
c.6095G>A |
p.Arg2032Lys |
Missense |
41/63 |
- |
9 |
11-108186742-C-T |
c.6100C>T |
p.Arg2034* |
Nonsense |
42/63 |
- |
1 |
11-108186743-G-A |
c.6101G>A |
p.Arg2034Gln |
Missense |
42/63 |
- |
1 |
11-108186754-C-G |
c.6112C>G |
p.His2038Asp |
Missense |
42/63 |
- |
1 |
11-108186757-G-T |
c.6115G>T |
p.Glu2039* |
Nonsense |
42/63 |
- |
1 |
11-108186757-G-A |
c.6115G>A |
p.Glu2039Lys |
Missense |
42/63 |
- |
3 |
11-108186787-T-G |
c.6145T>G |
p.Tyr2049Asp |
Missense |
42/63 |
- |
3 |
11-108186796-G-A |
c.6154G>A |
p.Glu2052Lys |
Missense |
42/63 |
- |
4 |
11-108186821-G-A |
c.6179G>A |
p.Arg2060His |
Missense |
42/63 |
- |
2 |
11-108186824-A-G |
c.6182A>G |
p.Gln2061Arg |
Missense |
42/63 |
- |
1 |
11-108186830-G-A |
c.6188G>A |
p.Gly2063Glu |
Missense |
42/63 |
- |
2 |
11-108186843-A-G |
c.6198+3A>G |
- |
IntronicSNV |
- |
42/62 |
1 |
11-108186956-T-C |
c.6198+116T>C |
- |
IntronicSNV |
- |
42/62 |
1 |
11-108187689-G-A |
c.6199-411G>A |
- |
IntronicSNV |
- |
42/62 |
2 |
11-108188039-C-G |
c.6199-61C>G |
- |
IntronicSNV |
- |
42/62 |
1 |
11-108188101-C-A |
c.6200C>A |
p.Ala2067Asp |
Missense |
43/63 |
- |
5 |
11-108188106-C-T |
c.6205C>T |
p.Gln2069* |
Nonsense |
43/63 |
- |
1 |
11-108188126-T-TTA |
c.6225_6226insTA |
p.Ile2076* |
Nonsense |
43/63 |
- |
1 |
11-108188128-T-G |
c.6227T>G |
p.Ile2076Ser |
Missense |
43/63 |
- |
1 |
11-108188129-TT-T |
c.6228del |
p.Leu2077Phefs*5 |
Frameshift |
43/63 |
- |
2 |
11-108188136-G-A |
c.6235G>A |
p.Val2079Ile |
Missense |
43/63 |
- |
1 |
11-108188160-TG-T |
c.6259del |
p.Glu2087Lysfs*9 |
Frameshift |
43/63 |
- |
1 |
11-108188213-G-A |
c.6312G>A |
p.Trp2104* |
Nonsense |
43/63 |
- |
1 |
11-108188223-C-T |
c.6322C>T |
p.Gln2108* |
Nonsense |
43/63 |
- |
1 |
11-108188226-T-G |
c.6325T>G |
p.Trp2109Gly |
Missense |
43/63 |
- |
1 |
11-108188227-G-A |
c.6326G>A |
p.Trp2109* |
Nonsense |
43/63 |
- |
2 |
11-108188233-A-G |
c.6332A>G |
p.His2111Arg |
Missense |
43/63 |
- |
1 |
11-108188238-A-C |
c.6337A>C |
p.Thr2113Pro |
Missense |
43/63 |
- |
1 |
11-108188244-G-A |
c.6343G>A |
p.Val2115Ile |
Missense |
43/63 |
- |
1 |
11-108190627-T-C |
c.6348-54T>C |
- |
IntronicSNV |
- |
43/62 |
4 |
11-108190682-AA-GC |
c.6349_6350delinsGC |
p.Lys2117Ala |
Missense |
44/63 |
- |
1 |
11-108190707-A-G |
c.6374A>G |
p.His2125Arg |
Missense |
44/63 |
- |
1 |
11-108190737-T-TTT |
c.6404_6405insTT |
p.Arg2136* |
Nonsense |
44/63 |
- |
3 |
11-108190745-A-AA |
c.6412dup |
p.Arg2138Lysfs*8 |
Frameshift |
44/63 |
- |
1 |
11-108190748-AGA-A |
c.6415_6416del |
p.Glu2139Ilefs*6 |
Frameshift |
44/63 |
- |
1 |
11-108190785-G-C |
c.6452G>C |
p.Arg2151Thr |
Missense |
44/63 |
- |
1 |
11-108192057-G-A |
c.6482G>A |
p.Arg2161His |
Missense |
45/63 |
- |
1 |
11-108192065-G-A |
c.6490G>A |
p.Glu2164Lys |
Missense |
45/63 |
- |
1 |
11-108192066-A-G |
c.6491A>G |
p.Glu2164Gly |
Missense |
45/63 |
- |
1 |
11-108192069-C-T |
c.6494C>T |
p.Ser2165Phe |
Missense |
45/63 |
- |
1 |
11-108192088-C-G |
c.6513C>G |
p.Pro2171Pro |
Synonymous |
45/63 |
- |
1 |
11-108192114-G-T |
c.6539G>T |
p.Gly2180Val |
Missense |
45/63 |
- |
1 |
11-108192118-G-T |
c.6543G>T |
p.Glu2181Asp |
Missense |
45/63 |
- |
2 |
11-108194024-A-G |
c.6572+1877A>G |
- |
IntronicSNV |
- |
45/62 |
2 |
11-108194557-C-T |
c.6573-1480C>T |
- |
IntronicSNV |
- |
45/62 |
1 |
11-108195779-A-C |
c.6573-258A>C |
- |
IntronicSNV |
- |
45/62 |
4 |
11-108195972-C-G |
c.6573-65C>G |
- |
IntronicSNV |
- |
45/62 |
1 |
11-108196037-GATCAGTCACACATAGACAACTCTCTGAAGTATATATTAAGTGGCAGAAACACTCCCAGC-G |
c.6573_6631del |
p.Arg2191Serfs*6 |
SpliceAcceptorDeletion |
46/63 |
- |
1 |
11-108196107-AG-TA |
c.6643_6644delinsTA |
p.Ser2215Tyr |
Missense |
46/63 |
- |
3 |
11-108196107-AG-TT |
c.6643_6644delinsTT |
p.Ser2215Phe |
Missense |
46/63 |
- |
1 |
11-108196122-C-T |
c.6658C>T |
p.Gln2220* |
Nonsense |
46/63 |
- |
1 |
11-108196125-G-A |
c.6661G>A |
p.Glu2221Lys |
Missense |
46/63 |
- |
1 |
11-108196143-C-T |
c.6679C>T |
p.Arg2227Cys |
Missense |
46/63 |
- |
6 |
11-108196144-G-A |
c.6680G>A |
p.Arg2227His |
Missense |
46/63 |
- |
1 |
11-108196222-A-C |
c.6758A>C |
p.Lys2253Thr |
Missense |
46/63 |
- |
1 |
11-108196230-G-T |
c.6766G>T |
p.Val2256Leu |
Missense |
46/63 |
- |
1 |
11-108196230-G-C |
c.6766G>C |
p.Val2256Leu |
Missense |
46/63 |
- |
1 |
11-108196254-AC-TG |
c.6790_6791delinsTG |
p.Thr2264Cys |
Missense |
46/63 |
- |
1 |
11-108196264-A-T |
c.6800A>T |
p.Asn2267Ile |
Missense |
46/63 |
- |
1 |
11-108196509-G-C |
c.6807+238G>C |
- |
IntronicSNV |
- |
46/62 |
11 |
11-108196509-G-T |
c.6807+238G>T |
- |
IntronicSNV |
- |
46/62 |
11 |
11-108196543-TTATATACTGTGTGTATGTACACACAGATACACATACATACATATAGAGAGAGACAGACA-T |
c.6808-242_6808-184del |
- |
Unclassified |
- |
46/62 |
1 |
11-108196794-AA-A |
c.6817del |
p.Arg2273Glyfs*37 |
Frameshift |
47/63 |
- |
1 |
11-108196797-G-A |
c.6820G>A |
p.Ala2274Thr |
Missense |
47/63 |
- |
7 |
11-108196816-CA-C |
c.6839del |
p.Gln2280Argfs*30 |
Frameshift |
47/63 |
- |
1 |
11-108196837-G-C |
c.6860G>C |
p.Gly2287Ala |
Missense |
47/63 |
- |
3 |
11-108196838-A-ATA |
c.6861_6862insTA |
p.Val2288* |
Nonsense |
47/63 |
- |
1 |
11-108196839-AGTCTC-A |
c.6862_6866del |
p.Val2288* |
Frameshift |
47/63 |
- |
1 |
11-108196846-A-C |
c.6869A>C |
p.Glu2290Ala |
Missense |
47/63 |
- |
1 |
11-108196878-G-A |
c.6901G>A |
p.Ala2301Thr |
Missense |
47/63 |
- |
1 |
11-108196885-A-G |
c.6908A>G |
p.Lys2303Arg |
Missense |
47/63 |
- |
1 |
11-108196885-A-AA |
c.6908dup |
p.Glu2304Glyfs*69 |
Frameshift |
47/63 |
- |
2 |
11-108196893-GAG-G |
c.6916_6917del |
p.Leu2307Cysfs*65 |
Frameshift |
47/63 |
- |
1 |
11-108196896-C-T |
c.6919C>T |
p.Leu2307Phe |
Missense |
47/63 |
- |
9 |
11-108196896-C-G |
c.6919C>G |
p.Leu2307Val |
Missense |
47/63 |
- |
2 |
11-108196900-C-T |
c.6923C>T |
p.Ala2308Val |
Missense |
47/63 |
- |
1 |
11-108196912-T-C |
c.6935T>C |
p.Leu2312Pro |
Missense |
47/63 |
- |
1 |
11-108196929-A-C |
c.6952A>C |
p.Lys2318Gln |
Missense |
47/63 |
- |
1 |
11-108196948-C-G |
c.6971C>G |
p.Ala2324Gly |
Missense |
47/63 |
- |
1 |
11-108198371-G-T |
c.6976-1G>T |
- |
IntronicSNV |
- |
47/62 |
1 |
11-108198391-T-C |
c.6995T>C |
p.Leu2332Pro |
Missense |
48/63 |
- |
2 |
11-108198393-A-AA |
c.6997dup |
p.Thr2333Asnfs*40 |
Frameshift |
48/63 |
- |
3 |
11-108198396-ATACA-A |
c.7000_7003del |
p.Tyr2334Glnfs*4 |
Frameshift |
48/63 |
- |
2 |
11-108198400-C-T |
c.7004C>T |
p.Thr2335Ile |
Missense |
48/63 |
- |
1 |
11-108198406-TGT-T |
c.7010_7011del |
p.Cys2337Serfs*35 |
Frameshift |
48/63 |
- |
2 |
11-108198420-G-A |
c.7024G>A |
p.Gly2342Ser |
Missense |
48/63 |
- |
1 |
11-108198440-G-A |
c.7044G>A |
p.Thr2348Thr |
Synonymous |
48/63 |
- |
1 |
11-108198448-A-C |
c.7052A>C |
p.Glu2351Ala |
Missense |
48/63 |
- |
1 |
11-108198468-C-T |
c.7072C>T |
p.Gln2358* |
Nonsense |
48/63 |
- |
1 |
11-108198478-T-C |
c.7082T>C |
p.Leu2361Pro |
Missense |
48/63 |
- |
2 |
11-108198484-A-G |
c.7088A>G |
p.Lys2363Arg |
Missense |
48/63 |
- |
1 |
11-108199746-A-C |
c.7090-2A>C |
- |
IntronicSNV |
- |
48/62 |
1 |
11-108199747-G-A |
c.7090-1G>A |
- |
IntronicSNV |
- |
48/62 |
1 |
11-108199749-GC-G |
c.7091del |
p.Ala2364Glufs*2 |
Frameshift |
49/63 |
- |
1 |
11-108199754-G-T |
c.7096G>T |
p.Glu2366* |
Nonsense |
49/63 |
- |
1 |
11-108199760-G-A |
c.7102G>A |
p.Ala2368Thr |
Missense |
49/63 |
- |
1 |
11-108199824-C-G |
c.7166C>G |
p.Ser2389* |
Nonsense |
49/63 |
- |
1 |
11-108199835-T-G |
c.7177T>G |
p.Phe2393Val |
Missense |
49/63 |
- |
1 |
11-108199838-T-TT |
c.7180dup |
p.Ser2394Phefs*9 |
Frameshift |
49/63 |
- |
2 |
11-108199839-C-T |
c.7181C>T |
p.Ser2394Leu |
Missense |
49/63 |
- |
1 |
11-108199842-A-T |
c.7184A>T |
p.Asp2395Val |
Missense |
49/63 |
- |
1 |
11-108199845-C-G |
c.7187C>G |
p.Thr2396Ser |
Missense |
49/63 |
- |
1 |
11-108199871-A-T |
c.7213A>T |
p.Met2405Leu |
Missense |
49/63 |
- |
1 |
11-108199881-C-T |
c.7223C>T |
p.Ser2408Leu |
Missense |
49/63 |
- |
2 |
11-108199886-T-C |
c.7228T>C |
p.Phe2410Leu |
Missense |
49/63 |
- |
2 |
11-108199895-A-C |
c.7237A>C |
p.Lys2413Gln |
Missense |
49/63 |
- |
1 |
11-108199898-C-T |
c.7240C>T |
p.Gln2414* |
Nonsense |
49/63 |
- |
1 |
11-108199925-G-A |
c.7267G>A |
p.Glu2423Lys |
Missense |
49/63 |
- |
1 |
11-108199925-GA-CT |
c.7267_7268delinsCT |
p.Glu2423Leu |
Missense |
49/63 |
- |
1 |
11-108199926-A-G |
c.7268A>G |
p.Glu2423Gly |
Missense |
49/63 |
- |
2 |
11-108199929-T-G |
c.7271T>G |
p.Val2424Gly |
Missense |
49/63 |
- |
59 |
11-108199929-T-A |
c.7271T>A |
p.Val2424Glu |
Missense |
49/63 |
- |
1 |
11-108199932-G-A |
c.7274G>A |
p.Gly2425Asp |
Missense |
49/63 |
- |
1 |
11-108199934-C-A |
c.7276C>A |
p.Leu2426Ile |
Missense |
49/63 |
- |
1 |
11-108199938-T-C |
c.7280T>C |
p.Leu2427Pro |
Missense |
49/63 |
- |
1 |
11-108199938-T-G |
c.7280T>G |
p.Leu2427Arg |
Missense |
49/63 |
- |
1 |
11-108199951-A-T |
c.7293A>T |
p.Lys2431Asn |
Missense |
49/63 |
- |
1 |
11-108199951-A-C |
c.7293A>C |
p.Lys2431Asn |
Missense |
49/63 |
- |
1 |
11-108199962-A-T |
c.7304A>T |
p.Asn2435Ile |
Missense |
49/63 |
- |
1 |
11-108200935-T-G |
c.7308-6T>G |
- |
IntronicSNV |
- |
49/62 |
1 |
11-108200943-A-G |
c.7310A>G |
p.Tyr2437Cys |
Missense |
50/63 |
- |
1 |
11-108200946-C-T |
c.7313C>T |
p.Thr2438Ile |
Missense |
50/63 |
- |
1 |
11-108200952-A-G |
c.7319A>G |
p.Lys2440Arg |
Missense |
50/63 |
- |
1 |
11-108200955-T-G |
c.7322T>G |
p.Val2441Gly |
Missense |
50/63 |
- |
1 |
11-108200958-A-C |
c.7325A>C |
p.Gln2442Pro |
Missense |
50/63 |
- |
2 |
11-108200960-C-G |
c.7327C>G |
p.Arg2443Gly |
Missense |
50/63 |
- |
1 |
11-108200960-C-T |
c.7327C>T |
p.Arg2443* |
Nonsense |
50/63 |
- |
5 |
11-108200961-G-A |
c.7328G>A |
p.Arg2443Gln |
Missense |
50/63 |
- |
7 |
11-108200961-G-GT |
c.7328_7329insT |
p.Glu2444Argfs*6 |
Frameshift |
50/63 |
- |
1 |
11-108200963-G-A |
c.7330G>A |
p.Glu2444Lys |
Missense |
50/63 |
- |
2 |
11-108200965-AGC-A |
c.7332_7333del |
p.Glu2444Aspfs*5 |
Frameshift |
50/63 |
- |
1 |
11-108200967-T-C |
c.7334T>C |
p.Leu2445Pro |
Missense |
50/63 |
- |
1 |
11-108200973-T-C |
c.7340T>C |
p.Leu2447Ser |
Missense |
50/63 |
- |
1 |
11-108200975-G-A |
c.7342G>A |
p.Asp2448Asn |
Missense |
50/63 |
- |
2 |
11-108200976-A-T |
c.7343A>T |
p.Asp2448Val |
Missense |
50/63 |
- |
1 |
11-108200978-G-T |
c.7345G>T |
p.Glu2449* |
Nonsense |
50/63 |
- |
1 |
11-108200990-C-T |
c.7357C>T |
p.Arg2453Cys |
Missense |
50/63 |
- |
1 |
11-108200991-G-C |
c.7358G>C |
p.Arg2453Pro |
Missense |
50/63 |
- |
1 |
11-108201007-T-TA |
c.7374_7375insA |
p.Arg2459Thrfs*2 |
Frameshift |
50/63 |
- |
1 |
11-108201008-C-T |
c.7375C>T |
p.Arg2459Cys |
Missense |
50/63 |
- |
1 |
11-108201008-C-G |
c.7375C>G |
p.Arg2459Gly |
Missense |
50/63 |
- |
2 |
11-108201014-C-T |
c.7381C>T |
p.Arg2461Cys |
Missense |
50/63 |
- |
2 |
11-108201015-G-C |
c.7382G>C |
p.Arg2461Pro |
Missense |
50/63 |
- |
1 |
11-108201023-T-C |
c.7390T>C |
p.Cys2464Arg |
Missense |
50/63 |
- |
4 |
11-108201026-A-G |
c.7393A>G |
p.Lys2465Glu |
Missense |
50/63 |
- |
1 |
11-108201035-G-A |
c.7402G>A |
p.Glu2468Lys |
Missense |
50/63 |
- |
1 |
11-108201062-G-A |
c.7429G>A |
p.Gly2477Arg |
Missense |
50/63 |
- |
1 |
11-108201072-A-C |
c.7439A>C |
p.His2480Pro |
Missense |
50/63 |
- |
1 |
11-108201079-G-C |
c.7446G>C |
p.Met2482Ile |
Missense |
50/63 |
- |
1 |
11-108201079-G-A |
c.7446G>A |
p.Met2482Ile |
Missense |
50/63 |
- |
1 |
11-108201079-G-T |
c.7446G>T |
p.Met2482Ile |
Missense |
50/63 |
- |
1 |
11-108201082-G-A |
c.7449G>A |
p.Trp2483* |
Nonsense |
50/63 |
- |
1 |
11-108201089-C-G |
c.7456C>G |
p.Arg2486Gly |
Missense |
50/63 |
- |
1 |
11-108201089-C-T |
c.7456C>T |
p.Arg2486* |
Nonsense |
50/63 |
- |
1 |
11-108201090-G-C |
c.7457G>C |
p.Arg2486Pro |
Missense |
50/63 |
- |
2 |
11-108201101-C-T |
c.7468C>T |
p.Leu2490Phe |
Missense |
50/63 |
- |
1 |
11-108201108-T-G |
c.7475T>G |
p.Leu2492Arg |
Missense |
50/63 |
- |
1 |
11-108201144-TG-GC |
c.7511_7512delinsGC |
p.Met2504Ser |
Missense |
50/63 |
- |
2 |
11-108202172-AGAGA-A |
c.7517_7520del |
p.Arg2506Thrfs*3 |
SpliceAcceptorDeletion |
51/63 |
- |
2 |
11-108202189-C-T |
c.7534C>T |
p.Pro2512Ser |
Missense |
51/63 |
- |
1 |
11-108202207-C-T |
c.7552C>T |
p.Pro2518Ser |
Missense |
51/63 |
- |
1 |
11-108202210-C-G |
c.7555C>G |
p.Leu2519Val |
Missense |
51/63 |
- |
1 |
11-108202225-G-C |
c.7570G>C |
p.Ala2524Pro |
Missense |
51/63 |
- |
4 |
11-108202261-G-T |
c.7606G>T |
p.Gly2536* |
Nonsense |
51/63 |
- |
1 |
11-108202261-G-A |
c.7606G>A |
p.Gly2536Arg |
Missense |
51/63 |
- |
1 |
11-108202273-G-A |
c.7618G>A |
p.Val2540Ile |
Missense |
51/63 |
- |
2 |
11-108202273-G-C |
c.7618G>C |
p.Val2540Leu |
Missense |
51/63 |
- |
1 |
11-108202277-T-C |
c.7622T>C |
p.Leu2541Pro |
Missense |
51/63 |
- |
1 |
11-108202604-A-G |
c.7630-2A>G |
- |
IntronicSNV |
- |
51/62 |
1 |
11-108202604-A-C |
c.7630-2A>C |
- |
IntronicSNV |
- |
51/62 |
10 |
11-108202614-CTAGAATTTC-C |
c.7638_7646del |
p.Arg2547_Ser2549del |
InFrameDeletion |
52/63 |
- |
5 |
11-108202641-C-A |
c.7665C>A |
p.His2555Gln |
Missense |
52/63 |
- |
1 |
11-108202641-C-G |
c.7665C>G |
p.His2555Gln |
Missense |
52/63 |
- |
1 |
11-108202647-TGTTT-T |
c.7671_7674del |
p.Phe2558Leufs*5 |
Frameshift |
52/63 |
- |
1 |
11-108202681-AG-A |
c.7705del |
p.Asp2569Metfs*4 |
Frameshift |
52/63 |
- |
1 |
11-108202681-GAT-TAA |
c.7705_7707delinsTAA |
p.Asp2569* |
Nonsense |
52/63 |
- |
1 |
11-108202681-AGA-A |
c.7705_7706del |
p.Asp2569* |
Frameshift |
52/63 |
- |
1 |
11-108202685-A-G |
c.7709A>G |
p.Glu2570Gly |
Missense |
52/63 |
- |
1 |
11-108202687-T-TA |
c.7711_7712insA |
p.Phe2571Tyrfs*4 |
Frameshift |
52/63 |
- |
1 |
11-108202711-AG-GC |
c.7735_7736delinsGC |
p.Arg2579Ala |
Missense |
52/63 |
- |
2 |
11-108202716-A-C |
c.7740A>C |
p.Arg2580Ser |
Missense |
52/63 |
- |
3 |
11-108202718-G-T |
c.7742G>T |
p.Ser2581Ile |
Missense |
52/63 |
- |
1 |
11-108202751-C-G |
c.7775C>G |
p.Ser2592Cys |
Missense |
52/63 |
- |
3 |
11-108202753-C-T |
c.7777C>T |
p.Gln2593* |
Nonsense |
52/63 |
- |
2 |
11-108202764-G-A |
c.7788G>A |
p.Glu2596Glu |
Synonymous |
52/63 |
- |
2 |
11-108203492-C-T |
c.7792C>T |
p.Arg2598* |
Nonsense |
53/63 |
- |
2 |
11-108203518-A-G |
c.7818A>G |
p.Ile2606Met |
Missense |
53/63 |
- |
1 |
11-108203531-AAGTAG-A |
c.7831_7835del |
p.Ser2611Glufs*9 |
Frameshift |
53/63 |
- |
1 |
11-108203561-GA-CT |
c.7861_7862delinsCT |
p.Glu2621Leu |
Missense |
53/63 |
- |
1 |
11-108203565-C-T |
c.7865C>T |
p.Ala2622Val |
Missense |
53/63 |
- |
3 |
11-108203573-GAT-CAA |
c.7873_7875delinsCAA |
p.Asp2625Gln |
Missense |
53/63 |
- |
1 |
11-108203574-A-G |
c.7874A>G |
p.Asp2625Gly |
Missense |
53/63 |
- |
1 |
11-108203575-TG-GC |
c.7875_7876delinsGC |
p.Asp2625_Ala2626delinsGluPro |
MultiAAMissense |
53/63 |
- |
2 |
11-108203575-T-A |
c.7875T>A |
p.Asp2625Glu |
Missense |
53/63 |
- |
4 |
11-108203575-T-G |
c.7875T>G |
p.Asp2625Glu |
Missense |
53/63 |
- |
4 |
11-108203576-G-C |
c.7876G>C |
p.Ala2626Pro |
Missense |
53/63 |
- |
2 |
11-108203576-GCT-GAGCCT |
c.7876_7877insAGC |
p.Ala2626delinsGluPro |
MultiAAMissense |
53/63 |
- |
1 |
11-108203577-C-T |
c.7877C>T |
p.Ala2626Val |
Missense |
53/63 |
- |
1 |
11-108203586-ATATTA-A |
c.7886_7890del |
p.Ile2629Serfs*25 |
Frameshift |
53/63 |
- |
4 |
11-108203613-G-A |
c.7913G>A |
p.Trp2638* |
Nonsense |
53/63 |
- |
6 |
11-108203619-C-T |
c.7919C>T |
p.Thr2640Ile |
Missense |
53/63 |
- |
2 |
11-108203619-AC-A |
c.7919del |
p.Thr2640Ilefs*6 |
Frameshift |
53/63 |
- |
1 |
11-108204611-A-C |
c.7928-2A>C |
- |
IntronicSNV |
- |
53/62 |
1 |
11-108204636-C-T |
c.7951C>T |
p.Gln2651* |
Nonsense |
54/63 |
- |
1 |
11-108204652-T-C |
c.7967T>C |
p.Leu2656Pro |
Missense |
54/63 |
- |
1 |
11-108204661-T-C |
c.7976T>C |
p.Leu2659Ser |
Missense |
54/63 |
- |
1 |
11-108204670-T-A |
c.7985T>A |
p.Val2662Asp |
Missense |
54/63 |
- |
2 |
11-108204673-T-C |
c.7988T>C |
p.Val2663Ala |
Missense |
54/63 |
- |
1 |
11-108204674-TTGT-T |
c.7989_7991del |
p.Val2664del |
InFrameDeletion |
54/63 |
- |
1 |
11-108204681-A-G |
c.7996A>G |
p.Thr2666Ala |
Missense |
54/63 |
- |
1 |
11-108204682-C-T |
c.7997C>T |
p.Thr2666Ile |
Missense |
54/63 |
- |
1 |
11-108204685-T-C |
c.8000T>C |
p.Met2667Thr |
Missense |
54/63 |
- |
1 |
11-108204881-C-T |
c.8010+186C>T |
- |
IntronicSNV |
- |
54/62 |
8 |
11-108205329-A-G |
c.8011-367A>G |
- |
IntronicSNV |
- |
54/62 |
3 |
11-108205383-G-A |
c.8011-313G>A |
- |
IntronicSNV |
- |
54/62 |
3 |
11-108205708-GG-AC |
c.8023_8024delinsAC |
p.Gly2675Thr |
Missense |
55/63 |
- |
1 |
11-108205715-A-G |
c.8030A>G |
p.Tyr2677Cys |
Missense |
55/63 |
- |
3 |
11-108205734-A-AA |
c.8049dup |
p.Gln2684Thrfs*4 |
Frameshift |
55/63 |
- |
1 |
11-108205756-C-T |
c.8071C>T |
p.Arg2691Cys |
Missense |
55/63 |
- |
7 |
11-108205757-G-A |
c.8072G>A |
p.Arg2691His |
Missense |
55/63 |
- |
1 |
11-108205763-GCAG-G |
c.8078_8080del |
p.Ala2693del |
InFrameDeletion |
55/63 |
- |
1 |
11-108205768-G-A |
c.8083G>A |
p.Gly2695Ser |
Missense |
55/63 |
- |
2 |
11-108205769-G-T |
c.8084G>T |
p.Gly2695Val |
Missense |
55/63 |
- |
1 |
11-108205771-G-T |
c.8086G>T |
p.Val2696Leu |
Missense |
55/63 |
- |
1 |
11-108205771-G-C |
c.8086G>C |
p.Val2696Leu |
Missense |
55/63 |
- |
1 |
11-108205774-A-G |
c.8089A>G |
p.Asn2697Asp |
Missense |
55/63 |
- |
1 |
11-108205780-C-T |
c.8095C>T |
p.Pro2699Ser |
Missense |
55/63 |
- |
2 |
11-108205795-T-G |
c.8110T>G |
p.Cys2704Gly |
Missense |
55/63 |
- |
1 |
11-108205802-G-C |
c.8117G>C |
p.Gly2706Ala |
Missense |
55/63 |
- |
1 |
11-108205807-G-A |
c.8122G>A |
p.Asp2708Asn |
Missense |
55/63 |
- |
6 |
11-108205807-GAT-CAA |
c.8122_8124delinsCAA |
p.Asp2708Gln |
Missense |
55/63 |
- |
1 |
11-108205809-T-A |
c.8124T>A |
p.Asp2708Glu |
Missense |
55/63 |
- |
2 |
11-108205825-C-T |
c.8140C>T |
p.Gln2714* |
Nonsense |
55/63 |
- |
2 |
11-108205832-T-C |
c.8147T>C |
p.Val2716Ala |
Missense |
55/63 |
- |
13 |
11-108206575-C-T |
c.8155C>T |
p.Arg2719Cys |
Missense |
56/63 |
- |
1 |
11-108206578-G-C |
c.8158G>C |
p.Asp2720His |
Missense |
56/63 |
- |
2 |
11-108206579-A-G |
c.8159A>G |
p.Asp2720Gly |
Missense |
56/63 |
- |
1 |
11-108206580-ATGA-A |
c.8160_8162del |
p.Asp2721del |
InFrameDeletion |
56/63 |
- |
1 |
11-108206581-G-A |
c.8161G>A |
p.Asp2721Asn |
Missense |
56/63 |
- |
2 |
11-108206593-G-C |
c.8173G>C |
p.Asp2725His |
Missense |
56/63 |
- |
1 |
11-108206594-A-T |
c.8174A>T |
p.Asp2725Val |
Missense |
56/63 |
- |
1 |
11-108206595-T-A |
c.8175T>A |
p.Asp2725Glu |
Missense |
56/63 |
- |
3 |
11-108206600-T-G |
c.8180T>G |
p.Val2727Gly |
Missense |
56/63 |
- |
1 |
11-108206607-A-T |
c.8187A>T |
p.Gln2729His |
Missense |
56/63 |
- |
2 |
11-108206609-A-C |
c.8189A>C |
p.Gln2730Pro |
Missense |
56/63 |
- |
2 |
11-108206616-C-A |
c.8196C>A |
p.Phe2732Leu |
Missense |
56/63 |
- |
1 |
11-108206617-C-A |
c.8197C>A |
p.Gln2733Lys |
Missense |
56/63 |
- |
1 |
11-108206618-A-C |
c.8198A>C |
p.Gln2733Pro |
Missense |
56/63 |
- |
1 |
11-108206633-T-A |
c.8213T>A |
p.Leu2738* |
Nonsense |
56/63 |
- |
1 |
11-108206633-T-G |
c.8213T>G |
p.Leu2738* |
Nonsense |
56/63 |
- |
1 |
11-108206639-A-C |
c.8219A>C |
p.Gln2740Pro |
Missense |
56/63 |
- |
2 |
11-108206648-C-T |
c.8228C>T |
p.Thr2743Met |
Missense |
56/63 |
- |
1 |
11-108206666-A-T |
c.8246A>T |
p.Lys2749Ile |
Missense |
56/63 |
- |
3 |
11-108206669-TTAACTATCTGTACTTATAAG-T |
c.8249_8268del |
p.Leu2750Cysfs*12 |
SpliceDonorDeletion |
56/63 |
- |
1 |
11-108206671-AACTA-A |
c.8251_8254del |
p.Thr2751Serfs*54 |
Frameshift |
56/63 |
- |
1 |
11-108206683-TA-GC |
c.8263_8264delinsGC |
p.Tyr2755Ala |
Missense |
56/63 |
- |
3 |
11-108206684-TATAAG-T |
c.8264_8268del |
p.Tyr2755Cysfs*12 |
SpliceDonorDeletion |
56/63 |
- |
3 |
11-108206684-A-AA |
c.8264dup |
p.Tyr2755* |
Nonsense |
56/63 |
- |
1 |
11-108206686-A-T |
c.8266A>T |
p.Lys2756* |
Nonsense |
56/63 |
- |
16 |
11-108210258-T-C |
c.8268+3570T>C |
- |
IntronicSNV |
- |
56/62 |
3 |
11-108211412-T-G |
c.8269-2537T>G |
- |
IntronicSNV |
- |
56/62 |
3 |
11-108212093-A-C |
c.8269-1856A>C |
- |
IntronicSNV |
- |
56/62 |
2 |
11-108212093-A-T |
c.8269-1856A>T |
- |
IntronicSNV |
- |
56/62 |
2 |
11-108213952-GGTTCCCCTCTCTCAGCGAAGTGGTGTTCTTGAATGGTGCACAGGAACTGTCCCCATTGG-G |
c.8272_8330del |
p.Val2758* |
InFrameDeletion |
57/63 |
- |
1 |
11-108213967-C-T |
c.8287C>T |
p.Arg2763* |
Nonsense |
57/63 |
- |
1 |
11-108213973-G-A |
c.8293G>A |
p.Gly2765Ser |
Missense |
57/63 |
- |
1 |
11-108213994-G-A |
c.8314G>A |
p.Gly2772Arg |
Missense |
57/63 |
- |
3 |
11-108213999-TGTCC-TGTCCTGTCC |
c.8319_8323dup |
p.Pro2775Leufs*33 |
Frameshift |
57/63 |
- |
1 |
11-108214023-TTA-T |
c.8343_8344del |
p.Asn2782Glnfs*2 |
Frameshift |
57/63 |
- |
1 |
11-108214062-T-TT |
c.8382dup |
p.Asp2795* |
Nonsense |
57/63 |
- |
1 |
11-108214067-TTCAGTGCCTTT-T |
c.8387_8397del |
p.Phe2796Serfs*15 |
Frameshift |
57/63 |
- |
1 |
11-108214073-C-A |
c.8393C>A |
p.Ala2798Asp |
Missense |
57/63 |
- |
1 |
11-108214075-CTTTCAGTGCC-C |
c.8395_8404del |
p.Phe2799Lysfs*4 |
Frameshift |
57/63 |
- |
1 |
11-108214078-C-T |
c.8398C>T |
p.Gln2800* |
Nonsense |
57/63 |
- |
1 |
11-108214082-G-A |
c.8402G>A |
p.Cys2801Tyr |
Missense |
57/63 |
- |
1 |
11-108214096-GATG-G |
c.8416_8418del |
p.Met2806del |
InFrameDeletion |
57/63 |
- |
1 |
11-108214098-G-T |
c.8418G>T |
p.Met2806Ile |
Missense |
57/63 |
- |
1 |
11-108214103-AGTGA-A |
c.8418+5_8418+8del |
- |
IntronicDeletion |
- |
57/62 |
1 |
11-108215095-A-G |
c.8418+997A>G |
- |
IntronicSNV |
- |
57/62 |
1 |
11-108215397-T-G |
c.8419-1073T>G |
- |
IntronicSNV |
- |
57/62 |
3 |
11-108216478-A-AT |
c.8427_8428insT |
p.Lys2810* |
Nonsense |
58/63 |
- |
1 |
11-108216482-AAA-A |
c.8431_8432del |
p.Lys2811Valfs*3 |
Frameshift |
58/63 |
- |
1 |
11-108216483-A-AA |
c.8432dup |
p.Ser2812Valfs*3 |
Frameshift |
58/63 |
- |
1 |
11-108216483-AA-A |
c.8432del |
p.Lys2811Serfs*46 |
Frameshift |
58/63 |
- |
1 |
11-108216486-TCT-T |
c.8435_8436del |
p.Ser2812Phefs*2 |
Frameshift |
58/63 |
- |
1 |
11-108216530-T-A |
c.8479T>A |
p.Phe2827Ile |
Missense |
58/63 |
- |
1 |
11-108216540-T-G |
c.8489T>G |
p.Val2830Gly |
Missense |
58/63 |
- |
2 |
11-108216543-T-C |
c.8492T>C |
p.Phe2831Ser |
Missense |
58/63 |
- |
1 |
11-108216545-C-T |
c.8494C>T |
p.Arg2832Cys |
Missense |
58/63 |
- |
10 |
11-108216546-G-A |
c.8495G>A |
p.Arg2832His |
Missense |
58/63 |
- |
2 |
11-108216576-C-G |
c.8525C>G |
p.Pro2842Arg |
Missense |
58/63 |
- |
1 |
11-108216576-C-T |
c.8525C>T |
p.Pro2842Leu |
Missense |
58/63 |
- |
1 |
11-108216586-G-A |
c.8535G>A |
p.Trp2845* |
Nonsense |
58/63 |
- |
1 |
11-108216585-G-A |
c.8534G>A |
p.Trp2845* |
Nonsense |
58/63 |
- |
1 |
11-108216596-C-T |
c.8545C>T |
p.Arg2849* |
Nonsense |
58/63 |
- |
1 |
11-108216597-G-C |
c.8546G>C |
p.Arg2849Pro |
Missense |
58/63 |
- |
6 |
11-108216600-T-A |
c.8549T>A |
p.Leu2850* |
Nonsense |
58/63 |
- |
1 |
11-108216601-G-C |
c.8550G>C |
p.Leu2850Phe |
Missense |
58/63 |
- |
1 |
11-108216601-G-T |
c.8550G>T |
p.Leu2850Phe |
Missense |
58/63 |
- |
1 |
11-108216608-A-G |
c.8557A>G |
p.Thr2853Ala |
Missense |
58/63 |
- |
1 |
11-108216609-C-G |
c.8558C>G |
p.Thr2853Arg |
Missense |
58/63 |
- |
1 |
11-108216611-C-T |
c.8560C>T |
p.Arg2854Cys |
Missense |
58/63 |
- |
4 |
11-108216612-GC-AA |
c.8561_8562delinsAA |
p.Arg2854Gln |
Missense |
58/63 |
- |
1 |
11-108216616-T-G |
c.8565T>G |
p.Ser2855Arg |
Missense |
58/63 |
- |
2 |
11-108216616-TG-AA |
c.8565_8566delinsAA |
p.Ser2855_Val2856delinsArgIle |
MultiAAMissense |
58/63 |
- |
1 |
11-108216617-GTA-AGGATC |
c.8566_8568delinsAGGATC |
p.Val2856delinsArgIle |
MultiAAMissense |
58/63 |
- |
1 |
11-108216627-C-T |
c.8576C>T |
p.Ser2859Phe |
Missense |
58/63 |
- |
1 |
11-108216629-TTCT-T |
c.8578_8580del |
p.Ser2860del |
InFrameDeletion |
58/63 |
- |
1 |
11-108216636-G-A |
c.8584+1G>A |
- |
IntronicSNV |
- |
58/62 |
1 |
11-108217049-T-G |
c.8584+414T>G |
- |
IntronicSNV |
- |
58/62 |
1 |
11-108218004-A-C |
c.8585-2A>C |
- |
IntronicSNV |
- |
58/62 |
2 |
11-108218009-G-T |
c.8588G>T |
p.Gly2863Val |
Missense |
59/63 |
- |
1 |
11-108218013-C-T |
c.8592C>T |
p.Tyr2864Tyr |
Synonymous |
59/63 |
- |
1 |
11-108218017-C-G |
c.8596C>G |
p.Leu2866Val |
Missense |
59/63 |
- |
1 |
11-108218020-G-C |
c.8599G>C |
p.Gly2867Arg |
Missense |
59/63 |
- |
4 |
11-108218020-G-A |
c.8599G>A |
p.Gly2867Arg |
Missense |
59/63 |
- |
4 |
11-108218026-G-C |
c.8605G>C |
p.Gly2869Arg |
Missense |
59/63 |
- |
1 |
11-108218029-G-C |
c.8608G>C |
p.Asp2870His |
Missense |
59/63 |
- |
2 |
11-108218030-A-C |
c.8609A>C |
p.Asp2870Ala |
Missense |
59/63 |
- |
11 |
11-108218035-C-A |
c.8614C>A |
p.His2872Asn |
Missense |
59/63 |
- |
1 |
11-108218044-A-C |
c.8623A>C |
p.Asn2875His |
Missense |
59/63 |
- |
1 |
11-108218045-A-G |
c.8624A>G |
p.Asn2875Ser |
Missense |
59/63 |
- |
4 |
11-108218046-T-A |
c.8625T>A |
p.Asn2875Lys |
Missense |
59/63 |
- |
3 |
11-108218046-T-G |
c.8625T>G |
p.Asn2875Lys |
Missense |
59/63 |
- |
3 |
11-108218052-G-C |
c.8631G>C |
p.Leu2877Phe |
Missense |
59/63 |
- |
3 |
11-108218052-G-T |
c.8631G>T |
p.Leu2877Phe |
Missense |
59/63 |
- |
3 |
11-108218062-C-T |
c.8641C>T |
p.Gln2881* |
Nonsense |
59/63 |
- |
1 |
11-108218076-T-TT |
c.8655dup |
p.Val2886Cysfs*10 |
Frameshift |
59/63 |
- |
1 |
11-108218080-C-G |
c.8659C>G |
p.His2887Asp |
Missense |
59/63 |
- |
1 |
11-108218084-T-C |
c.8663T>C |
p.Ile2888Thr |
Missense |
59/63 |
- |
2 |
11-108218086-G-C |
c.8665G>C |
p.Asp2889His |
Missense |
59/63 |
- |
1 |
11-108218087-A-C |
c.8666A>C |
p.Asp2889Ala |
Missense |
59/63 |
- |
2 |
11-108218089-C-G |
c.8668C>G |
p.Leu2890Val |
Missense |
59/63 |
- |
1 |
11-108218092-G-C |
c.8671G>C |
p.Gly2891Arg |
Missense |
59/63 |
- |
1 |
11-108219420-G-A |
c.8671+1328G>A |
- |
IntronicSNV |
- |
59/62 |
1 |
11-108220657-C-T |
c.8671+2565C>T |
- |
IntronicSNV |
- |
59/62 |
10 |
11-108221099-A-T |
c.8671+3007A>T |
- |
IntronicSNV |
- |
59/62 |
1 |
11-108221099-A-C |
c.8671+3007A>C |
- |
IntronicSNV |
- |
59/62 |
1 |
11-108224450-T-C |
c.8672-43T>C |
- |
IntronicSNV |
- |
59/62 |
1 |
11-108224471-T-G |
c.8672-22T>G |
- |
IntronicSNV |
- |
59/62 |
1 |
11-108224493-G-A |
c.8672G>A |
p.Gly2891Asp |
Missense |
60/63 |
- |
5 |
11-108224498-G-C |
c.8677G>C |
p.Ala2893Pro |
Missense |
60/63 |
- |
1 |
11-108224508-A-C |
c.8687A>C |
p.Gln2896Pro |
Missense |
60/63 |
- |
1 |
11-108224510-G-A |
c.8689G>A |
p.Gly2897Ser |
Missense |
60/63 |
- |
1 |
11-108224516-A-C |
c.8695A>C |
p.Ile2899Leu |
Missense |
60/63 |
- |
1 |
11-108224518-C-G |
c.8697C>G |
p.Ile2899Met |
Missense |
60/63 |
- |
2 |
11-108224541-C-T |
c.8720C>T |
p.Pro2907Leu |
Missense |
60/63 |
- |
1 |
11-108224555-A-G |
c.8734A>G |
p.Arg2912Gly |
Missense |
60/63 |
- |
6 |
11-108224559-A-G |
c.8738A>G |
p.Asp2913Gly |
Missense |
60/63 |
- |
1 |
11-108224562-T-C |
c.8741T>C |
p.Ile2914Thr |
Missense |
60/63 |
- |
3 |
11-108224583-C-A |
c.8762C>A |
p.Thr2921Lys |
Missense |
60/63 |
- |
1 |
11-108224583-C-T |
c.8762C>T |
p.Thr2921Met |
Missense |
60/63 |
- |
1 |
11-108224595-G-T |
c.8774G>T |
p.Gly2925Val |
Missense |
60/63 |
- |
2 |
11-108224615-A-C |
c.8786+8A>C |
- |
IntronicSNV |
- |
60/62 |
5 |
11-108224615-A-G |
c.8786+8A>G |
- |
IntronicSNV |
- |
60/62 |
1 |
11-108224618-T-C |
c.8786+11T>C |
- |
IntronicSNV |
- |
60/62 |
1 |
11-108225483-C-A |
c.8787-55C>A |
- |
IntronicSNV |
- |
60/62 |
6 |
11-108225483-C-T |
c.8787-55C>T |
- |
IntronicSNV |
- |
60/62 |
7 |
11-108225483-C-G |
c.8787-55C>G |
- |
IntronicSNV |
- |
60/62 |
6 |
11-108225540-G-T |
c.8789G>T |
p.Cys2930Phe |
Missense |
61/63 |
- |
1 |
11-108225544-T-A |
c.8793T>A |
p.Cys2931* |
Nonsense |
61/63 |
- |
1 |
11-108225551-A-G |
c.8800A>G |
p.Thr2934Ala |
Missense |
61/63 |
- |
1 |
11-108225561-T-C |
c.8810T>C |
p.Val2937Ala |
Missense |
61/63 |
- |
1 |
11-108225565-TGAGAAACTCTC-T |
c.8814_8824del |
p.Met2938Ilefs*14 |
Frameshift |
61/63 |
- |
1 |
11-108225575-C-T |
c.8824C>T |
p.Gln2942* |
Nonsense |
61/63 |
- |
1 |
11-108225584-C-A |
c.8833C>A |
p.Leu2945Met |
Missense |
61/63 |
- |
1 |
11-108225584-TCT-T |
c.8833_8834del |
p.Leu2945Valfs*10 |
Frameshift |
61/63 |
- |
2 |
11-108225586-TGT-T |
c.8835_8836del |
p.Leu2946Asnfs*9 |
Frameshift |
61/63 |
- |
1 |
11-108225661-A-G |
c.8850+60A>G |
- |
IntronicSNV |
- |
61/62 |
21 |
11-108225661-A-T |
c.8850+60A>T |
- |
IntronicSNV |
- |
61/62 |
21 |
11-108226025-A-G |
c.8850+424A>G |
- |
IntronicSNV |
- |
61/62 |
2 |
11-108234836-A-C |
c.8851-973A>C |
- |
IntronicSNV |
- |
61/62 |
11 |
11-108234836-A-T |
c.8851-973A>T |
- |
IntronicSNV |
- |
61/62 |
11 |
11-108235115-C-A |
c.8851-694C>A |
- |
IntronicSNV |
- |
61/62 |
4 |
11-108235808-G-T |
c.8851-1G>T |
- |
IntronicSNV |
- |
61/62 |
1 |
11-108235809-G-A |
c.8851G>A |
p.Val2951Ile |
Missense |
62/63 |
- |
2 |
11-108235814-T-TA |
c.8856_8857insA |
p.Leu2953Thrfs*3 |
Frameshift |
62/63 |
- |
1 |
11-108235834-GACTG-G |
c.8876_8879del |
p.Asp2959Glyfs*3 |
Frameshift |
62/63 |
- |
1 |
11-108235838-G-A |
c.8880G>A |
p.Trp2960* |
Nonsense |
62/63 |
- |
1 |
11-108235837-G-A |
c.8879G>A |
p.Trp2960* |
Nonsense |
62/63 |
- |
1 |
11-108235838-G-T |
c.8880G>T |
p.Trp2960Cys |
Missense |
62/63 |
- |
1 |
11-108235838-G-C |
c.8880G>C |
p.Trp2960Cys |
Missense |
62/63 |
- |
1 |
11-108235845-AAT-TAA |
c.8887_8889delinsTAA |
p.Asn2963* |
Nonsense |
62/63 |
- |
1 |
11-108235853-G-C |
c.8895G>C |
p.Leu2965Phe |
Missense |
62/63 |
- |
1 |
11-108235855-A-G |
c.8897A>G |
p.Lys2966Arg |
Missense |
62/63 |
- |
1 |
11-108235865-T-G |
c.8907T>G |
p.Tyr2969* |
Nonsense |
62/63 |
- |
1 |
11-108235869-C-T |
c.8911C>T |
p.Gln2971* |
Nonsense |
62/63 |
- |
1 |
11-108235879-C-T |
c.8921C>T |
p.Pro2974Leu |
Missense |
62/63 |
- |
1 |
11-108235892-CTG-C |
c.8934_8935del |
p.Glu2979Alafs*9 |
Frameshift |
62/63 |
- |
1 |
11-108235923-C-G |
c.8965C>G |
p.Gln2989Glu |
Missense |
62/63 |
- |
1 |
11-108235929-TG-GC |
c.8971_8972delinsGC |
p.Cys2991Ala |
Missense |
62/63 |
- |
1 |
11-108235929-TG-CT |
c.8971_8972delinsCT |
p.Cys2991Leu |
Missense |
62/63 |
- |
9 |
11-108235932-AA-GC |
c.8974_8975delinsGC |
p.Lys2992Ala |
Missense |
62/63 |
- |
1 |
11-108235935-C-T |
c.8977C>T |
p.Arg2993* |
Nonsense |
62/63 |
- |
7 |
11-108235944-AG-GC |
c.8986_8987delinsGC |
p.Ser2996Ala |
Missense |
62/63 |
- |
4 |
11-108235944-AG-CC |
c.8986_8987delinsCC |
p.Ser2996Pro |
Missense |
62/63 |
- |
1 |
11-108236062-C-T |
c.8998C>T |
p.Gln3000* |
Nonsense |
63/63 |
- |
1 |
11-108236071-A-G |
c.9007A>G |
p.Asn3003Asp |
Missense |
63/63 |
- |
1 |
11-108236072-A-G |
c.9008A>G |
p.Asn3003Ser |
Missense |
63/63 |
- |
2 |
11-108236072-A-C |
c.9008A>C |
p.Asn3003Thr |
Missense |
63/63 |
- |
1 |
11-108236072-A-T |
c.9008A>T |
p.Asn3003Ile |
Missense |
63/63 |
- |
1 |
11-108236080-G-A |
c.9016G>A |
p.Ala3006Thr |
Missense |
63/63 |
- |
1 |
11-108236080-G-C |
c.9016G>C |
p.Ala3006Pro |
Missense |
63/63 |
- |
1 |
11-108236085-A-AA |
c.9021dup |
p.Arg3008Thrfs*55 |
Frameshift |
63/63 |
- |
1 |
11-108236085-A-C |
c.9021A>C |
p.Glu3007Asp |
Missense |
63/63 |
- |
1 |
11-108236085-A-T |
c.9021A>T |
p.Glu3007Asp |
Missense |
63/63 |
- |
1 |
11-108236086-C-T |
c.9022C>T |
p.Arg3008Cys |
Missense |
63/63 |
- |
16 |
11-108236087-G-A |
c.9023G>A |
p.Arg3008His |
Missense |
63/63 |
- |
10 |
11-108236095-A-G |
c.9031A>G |
p.Met3011Val |
Missense |
63/63 |
- |
1 |
11-108236104-C-T |
c.9040C>T |
p.Gln3014* |
Nonsense |
63/63 |
- |
1 |
11-108236110-AA-GC |
c.9046_9047delinsGC |
p.Lys3016Ala |
Missense |
63/63 |
- |
1 |
11-108236110-A-C |
c.9046A>C |
p.Lys3016Gln |
Missense |
63/63 |
- |
2 |
11-108236111-A-G |
c.9047A>G |
p.Lys3016Arg |
Missense |
63/63 |
- |
3 |
11-108236116-AA-GC |
c.9052_9053delinsGC |
p.Lys3018Ala |
Missense |
63/63 |
- |
1 |
11-108236117-A-G |
c.9053A>G |
p.Lys3018Arg |
Missense |
63/63 |
- |
1 |
11-108236118-A-T |
c.9054A>T |
p.Lys3018Asn |
Missense |
63/63 |
- |
1 |
11-108236118-A-C |
c.9054A>C |
p.Lys3018Asn |
Missense |
63/63 |
- |
1 |
11-108236120-G-A |
c.9056G>A |
p.Gly3019Glu |
Missense |
63/63 |
- |
1 |
11-108236141-T-G |
c.9077T>G |
p.Leu3026Arg |
Missense |
63/63 |
- |
1 |
11-108236144-G-T |
c.9080G>T |
p.Ser3027Ile |
Missense |
63/63 |
- |
1 |
11-108236153-G-A |
c.9089G>A |
p.Gly3030Glu |
Missense |
63/63 |
- |
1 |
11-108236157-AAGTGAA-A |
c.9093_9098del |
p.Gln3031_Asn3033delinsHis |
MultiAAMissense |
63/63 |
- |
1 |
11-108236162-A-T |
c.9098A>T |
p.Asn3033Ile |
Missense |
63/63 |
- |
1 |
11-108236195-AA-A |
c.9131del |
p.Asn3044Ilefs*31 |
Frameshift |
63/63 |
- |
1 |
11-108236198-T-C |
c.9134T>C |
p.Leu3045Pro |
Missense |
63/63 |
- |
1 |
11-108236203-C-T |
c.9139C>T |
p.Arg3047* |
Nonsense |
63/63 |
- |
13 |
11-108236204-G-A |
c.9140G>A |
p.Arg3047Gln |
Missense |
63/63 |
- |
1 |
11-108236209-TT-GC |
c.9145_9146delinsGC |
p.Phe3049Ala |
Missense |
63/63 |
- |
1 |
11-108236213-C-T |
c.9149C>T |
p.Pro3050Leu |
Missense |
63/63 |
- |
2 |
11-108236215-G-A |
c.9151G>A |
p.Gly3051Arg |
Missense |
63/63 |
- |
1 |
11-108236215-G-C |
c.9151G>C |
p.Gly3051Arg |
Missense |
63/63 |
- |
1 |
11-108236218-TG-GC |
c.9154_9155delinsGC |
p.Trp3052Ala |
Missense |
63/63 |
- |
1 |
11-108236224-G-A |
c.9160G>A |
p.Ala3054Thr |
Missense |
63/63 |
- |
1 |
11-108236264-C-G |
c.*29C>G |
- |
3-UTRSNV |
63/63 |
- |
2 |
11-108236279-A-G |
c.*44A>G |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108236471-C-T |
c.*236C>T |
- |
3-UTRSNV |
63/63 |
- |
2 |
11-108236636-A-G |
c.*401A>G |
- |
3-UTRSNV |
63/63 |
- |
2 |
11-108236783-G-T |
c.*548G>T |
- |
3-UTRSNV |
63/63 |
- |
6 |
11-108236783-G-A |
c.*548G>A |
- |
3-UTRSNV |
63/63 |
- |
6 |
11-108236783-G-C |
c.*548G>C |
- |
3-UTRSNV |
63/63 |
- |
6 |
11-108236919-T-G |
c.*684T>G |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108237010-G-A |
c.*775G>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108237056-G-A |
c.*821G>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108237462-C-T |
c.*1227C>T |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108237662-T-C |
c.*1427T>C |
- |
3-UTRSNV |
63/63 |
- |
2 |
11-108237839-C-T |
c.*1604C>T |
- |
3-UTRSNV |
63/63 |
- |
8 |
11-108238034-C-T |
c.*1799C>T |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108238962-G-A |
c.*2727G>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239001-G-A |
c.*2766G>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239077-A-G |
c.*2842A>G |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239101-T-C |
c.*2866T>C |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239307-C-T |
c.*3072C>T |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239307-C-A |
c.*3072C>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239371-A-G |
c.*3136A>G |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239465-C-T |
c.*3230C>T |
- |
3-UTRSNV |
63/63 |
- |
2 |
11-108239628-G-T |
c.*3393G>T |
- |
3-UTRSNV |
63/63 |
- |
10 |
11-108239630-G-A |
c.*3395G>A |
- |
3-UTRSNV |
63/63 |
- |
1 |
11-108239648-T-C |
c.*3413T>C |
- |
3-UTRSNV |
63/63 |
- |
1 |