13-32889647-A-C |
c.-197A>C |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889669-C-T |
c.-175C>T |
- |
5_prime_UTR_variant |
1/27 |
- |
1 |
13-32889792-A-G |
c.-52A>G |
- |
5_prime_UTR_variant |
1/27 |
- |
5 |
13-32889792-A-C |
c.-52A>C |
- |
5_prime_UTR_variant |
1/27 |
- |
5 |
13-32889829-G-C |
c.-40+25G>C |
- |
intron_variant |
- |
1/26 |
1 |
13-32889968-G-A |
c.-40+164G>A |
- |
intron_variant |
- |
1/26 |
4 |
13-32890026-C-A |
c.-40+222C>A |
- |
intron_variant |
- |
1/26 |
4 |
13-32890026-C-T |
c.-40+222C>T |
- |
intron_variant |
- |
1/26 |
4 |
13-32890110-G-A |
c.-40+306G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890190-T-A |
c.-39-369T>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890227-G-A |
c.-39-332G>A |
- |
IntronicSNV |
- |
1/26 |
5 |
13-32890227-G-T |
c.-39-332G>T |
- |
IntronicSNV |
- |
1/26 |
5 |
13-32890311-C-T |
c.-39-248C>T |
- |
IntronicSNV |
- |
1/26 |
2 |
13-32890378-G-T |
c.-39-181G>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890465-T-G |
c.-39-94T>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890495-T-C |
c.-39-64T>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890511-T-G |
c.-39-48T>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890572-G-A |
c.-26G>A |
- |
5-UTRSNV |
2/27 |
- |
25 |
13-32890572-G-T |
c.-26G>T |
- |
5-UTRSNV |
2/27 |
- |
12 |
13-32890572-G-C |
c.-26G>C |
- |
5-UTRSNV |
2/27 |
- |
12 |
13-32890598-A-G |
c.1A>G |
p.Met1? |
Missense |
2/27 |
- |
1 |
13-32890599-T-G |
c.2T>G |
p.Met1? |
Missense |
2/27 |
- |
4 |
13-32890599-T-C |
c.2T>C |
p.Met1? |
Missense |
2/27 |
- |
2 |
13-32890599-T-A |
c.2T>A |
p.Met1? |
Missense |
2/27 |
- |
1 |
13-32890600-G-A |
c.3G>A |
p.Met1? |
Missense |
2/27 |
- |
7 |
13-32890607-G-T |
c.10G>T |
p.Gly4* |
Nonsense |
2/27 |
- |
1 |
13-32890615-AAGAGAGGCCAA-A |
c.18_28del |
p.Lys6Asnfs*4 |
Frameshift |
2/27 |
- |
1 |
13-32890616-G-T |
c.19G>T |
p.Glu7* |
Nonsense |
2/27 |
- |
1 |
13-32890616-G-C |
c.19G>C |
p.Glu7Gln |
Missense |
2/27 |
- |
1 |
13-32890618-AGAGGCCAACATTTTTTGAAATTTTTAAGA-A |
c.21_49del |
p.Glu7Aspfs*14 |
Frameshift |
2/27 |
- |
1 |
13-32890619-GAG-G |
c.22_23del |
p.Arg8Alafs*5 |
Frameshift |
2/27 |
- |
2 |
13-32890623-CC-C |
c.26del |
p.Pro9Glnfs*16 |
Frameshift |
2/27 |
- |
2 |
13-32890623-C-T |
c.26C>T |
p.Pro9Leu |
Missense |
2/27 |
- |
1 |
13-32890626-C-A |
c.29C>A |
p.Thr10Lys |
Missense |
2/27 |
- |
1 |
13-32890628-TT-CG |
c.31_32delinsCG |
p.Phe11Arg |
Missense |
2/27 |
- |
6 |
13-32890631-TTT-AAG |
c.34_36delinsAAG |
p.Phe12Lys |
Missense |
2/27 |
- |
3 |
13-32890631-T-G |
c.34T>G |
p.Phe12Val |
Missense |
2/27 |
- |
1 |
13-32890633-TT-T |
c.36del |
p.Phe12Leufs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890634-TGAAATTTT-T |
c.37_44del |
p.Glu13* |
Frameshift |
2/27 |
- |
1 |
13-32890638-ATTTTTAAGACACGCTGCAACAAAGCAGGTATTGACA-A |
c.41_67+9del |
- |
SpliceDonorDeletion |
2/27 |
2/26 |
1 |
13-32890640-TT-GA |
c.43_44delinsGA |
p.Phe15Asp |
Missense |
2/27 |
- |
1 |
13-32890641-T-TATT |
c.44_45insATT |
p.Ile14_Phe15insLeu |
InFrameInsertion |
2/27 |
- |
1 |
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A |
c.50_67+41del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
2/27 |
2/26 |
1 |
13-32890648-A-AA |
c.51dup |
p.Arg18Thrfs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890648-CAC-C |
c.51_52del |
p.Arg18Leufs*12 |
Frameshift |
2/27 |
- |
2 |
13-32890649-C-T |
c.52C>T |
p.Arg18Cys |
Missense |
2/27 |
- |
1 |
13-32890649-C-CA |
c.52_53insA |
p.Arg18Glnfs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890650-G-A |
c.53G>A |
p.Arg18His |
Missense |
2/27 |
- |
7 |
13-32890655-AAC-TAA |
c.58_60delinsTAA |
p.Asn20* |
Nonsense |
2/27 |
- |
1 |
13-32890657-ACAA-A |
c.60_62del |
p.Asn20del |
InFrameDeletion |
2/27 |
- |
1 |
13-32890659-A-G |
c.62A>G |
p.Lys21Arg |
Missense |
2/27 |
- |
2 |
13-32890662-C-T |
c.65C>T |
p.Ala22Val |
Missense |
2/27 |
- |
1 |
13-32890663-A-AA |
c.66dup |
p.Asp23Argfs*8 |
SpliceDonorInsertion |
2/27 |
- |
2 |
13-32890663-CAG-C |
c.66_67del |
p.Asp23Phefs*7 |
SpliceDonorDeletion |
2/27 |
- |
5 |
13-32890664-G-T |
c.67G>T |
p.Asp23Tyr |
Missense |
2/27 |
- |
1 |
13-32890664-G-A |
c.67G>A |
p.Asp23Asn |
Missense |
2/27 |
- |
2 |
13-32890664-G-C |
c.67G>C |
p.Asp23His |
Missense |
2/27 |
- |
1 |
13-32890665-G-A |
c.67+1G>A |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32890665-G-T |
c.67+1G>T |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890666-T-C |
c.67+2T>C |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32890667-A-G |
c.67+3A>G |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890721-A-C |
c.67+57A>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890726-T-G |
c.67+62T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890746-C-G |
c.67+82C>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32891706-A-G |
c.67+1042A>G |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32891706-A-C |
c.67+1042A>C |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32891798-T-C |
c.67+1134T>C |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32892290-ATAACTCATGCAAATGTGCCAGCAGTTTTACCCAGCATCATCTTTGCACTGTTGATACAA-A |
c.68-924_68-866del |
- |
Unclassified |
- |
2/26 |
1 |
13-32893193-T-G |
c.68-21T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893207-T-TT |
c.68-7dup |
- |
IntronicInsertion |
- |
2/26 |
1 |
13-32893207-T-A |
c.68-7T>A |
- |
IntronicSNV |
- |
2/26 |
13 |
13-32893207-TT-T |
c.68-7del |
- |
IntronicDeletion |
- |
2/26 |
4 |
13-32893209-A-G |
c.68-5A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893210-A-T |
c.68-4A>T |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893213-G-C |
c.68-1G>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G |
c.69_127del |
p.Asp23Glufs*3 |
Unclassified |
3/27 |
- |
1 |
13-32893214-GAT-G |
c.68_69del |
p.Asp23Valfs*7 |
SpliceAcceptorDeletion |
3/27 |
- |
2 |
13-32893217-T-TGTCT |
c.71_72insGTCT |
p.Gly25Serfs*7 |
Frameshift |
3/27 |
- |
1 |
13-32893217-T-A |
c.71T>A |
p.Leu24* |
Nonsense |
3/27 |
- |
1 |
13-32893218-TA-T |
c.72del |
p.Gly25Aspfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893218-A-T |
c.72A>T |
p.Leu24Phe |
Missense |
3/27 |
- |
2 |
13-32893219-G-A |
c.73G>A |
p.Gly25Arg |
Missense |
3/27 |
- |
14 |
13-32893225-ATA-TGT |
c.79_81delinsTGT |
p.Ile27Cys |
Missense |
3/27 |
- |
1 |
13-32893225-A-G |
c.79A>G |
p.Ile27Val |
Missense |
3/27 |
- |
4 |
13-32893229-AGT-A |
c.83_84del |
p.Ser28Thrfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893235-A-AA |
c.89dup |
p.Asn30Lysfs*4 |
Frameshift |
3/27 |
- |
1 |
13-32893237-T-G |
c.91T>G |
p.Trp31Gly |
Missense |
3/27 |
- |
4 |
13-32893237-T-C |
c.91T>C |
p.Trp31Arg |
Missense |
3/27 |
- |
10 |
13-32893239-G-A |
c.93G>A |
p.Trp31* |
Nonsense |
3/27 |
- |
3 |
13-32893238-G-A |
c.92G>A |
p.Trp31* |
Nonsense |
3/27 |
- |
4 |
13-32893239-G-T |
c.93G>T |
p.Trp31Cys |
Missense |
3/27 |
- |
14 |
13-32893243-G-A |
c.97G>A |
p.Glu33Lys |
Missense |
3/27 |
- |
1 |
13-32893245-A-G |
c.99A>G |
p.Glu33Glu |
Synonymous |
3/27 |
- |
1 |
13-32893250-T-C |
c.104T>C |
p.Leu35Pro |
Missense |
3/27 |
- |
1 |
13-32893256-C-T |
c.110C>T |
p.Ser37Leu |
Missense |
3/27 |
- |
1 |
13-32893258-G-A |
c.112G>A |
p.Glu38Lys |
Missense |
3/27 |
- |
2 |
13-32893261-AG-A |
c.115del |
p.Ala39Leufs*41 |
Frameshift |
3/27 |
- |
2 |
13-32893266-A-AA |
c.120dup |
p.Pro41Thrfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893268-C-T |
c.122C>T |
p.Pro41Leu |
Missense |
3/27 |
- |
1 |
13-32893271-A-G |
c.125A>G |
p.Tyr42Cys |
Missense |
3/27 |
- |
29 |
13-32893276-T-TA |
c.130_131insA |
p.Ser44Tyrfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893288-G-A |
c.142G>A |
p.Glu48Lys |
Missense |
3/27 |
- |
1 |
13-32893289-A-G |
c.143A>G |
p.Glu48Gly |
Missense |
3/27 |
- |
1 |
13-32893290-A-G |
c.144A>G |
p.Glu48Glu |
Synonymous |
3/27 |
- |
1 |
13-32893291-G-T |
c.145G>T |
p.Glu49* |
Nonsense |
3/27 |
- |
16 |
13-32893300-CA-AG |
c.154_155delinsAG |
p.His52Ser |
Missense |
3/27 |
- |
2 |
13-32893307-A-AA |
c.161dup |
p.Asn54Lysfs*10 |
Frameshift |
3/27 |
- |
38 |
13-32893307-AA-A |
c.161del |
p.Asn54Thrfs*26 |
Frameshift |
3/27 |
- |
1 |
13-32893310-A-G |
c.164A>G |
p.Asn55Ser |
Missense |
3/27 |
- |
1 |
13-32893311-AC-A |
c.165del |
p.Asn55Lysfs*25 |
Frameshift |
3/27 |
- |
1 |
13-32893311-ACAA-A |
c.165_167del |
p.Asn56del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893313-A-C |
c.167A>C |
p.Asn56Thr |
Missense |
3/27 |
- |
2 |
13-32893317-C-G |
c.171C>G |
p.Tyr57* |
Nonsense |
3/27 |
- |
1 |
13-32893317-AC-A |
c.171del |
p.Tyr57* |
Frameshift |
3/27 |
- |
1 |
13-32893318-G-A |
c.172G>A |
p.Glu58Lys |
Missense |
3/27 |
- |
1 |
13-32893318-G-T |
c.172G>T |
p.Glu58* |
Nonsense |
3/27 |
- |
1 |
13-32893319-A-C |
c.173A>C |
p.Glu58Ala |
Missense |
3/27 |
- |
1 |
13-32893321-CC-TA |
c.175_176delinsTA |
p.Pro59* |
Nonsense |
3/27 |
- |
2 |
13-32893325-A-G |
c.179A>G |
p.Asn60Ser |
Missense |
3/27 |
- |
2 |
13-32893328-T-C |
c.182T>C |
p.Leu61Pro |
Missense |
3/27 |
- |
1 |
13-32893328-CT-C |
c.182del |
p.Leu61Hisfs*19 |
Frameshift |
3/27 |
- |
1 |
13-32893330-TTT-GAG |
c.184_186delinsGAG |
p.Phe62Glu |
Missense |
3/27 |
- |
2 |
13-32893334-A-G |
c.188A>G |
p.Lys63Arg |
Missense |
3/27 |
- |
2 |
13-32893336-A-AA |
c.190dup |
p.Thr64Asnfs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893336-A-ATGATTCTA |
c.190_191insTGATTCTA |
p.Thr64Metfs*19 |
Frameshift |
3/27 |
- |
1 |
13-32893337-C-T |
c.191C>T |
p.Thr64Ile |
Missense |
3/27 |
- |
1 |
13-32893342-C-T |
c.196C>T |
p.Gln66* |
Nonsense |
3/27 |
- |
1 |
13-32893344-A-G |
c.198A>G |
p.Gln66Gln |
Synonymous |
3/27 |
- |
1 |
13-32893346-AGGAAACCATCTTA-A |
c.200_212del |
p.Arg67Ilefs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893352-C-T |
c.206C>T |
p.Pro69Leu |
Missense |
3/27 |
- |
1 |
13-32893357-TT-T |
c.211del |
p.Tyr71Ilefs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893361-A-G |
c.215A>G |
p.Asn72Ser |
Missense |
3/27 |
- |
2 |
13-32893368-G-C |
c.222G>C |
p.Leu74Leu |
Synonymous |
3/27 |
- |
1 |
13-32893368-G-T |
c.222G>T |
p.Leu74Leu |
Synonymous |
3/27 |
- |
1 |
13-32893368-G-A |
c.222G>A |
p.Leu74Leu |
Synonymous |
3/27 |
- |
1 |
13-32893366-C-T |
c.220C>T |
p.Leu74Leu |
Synonymous |
3/27 |
- |
1 |
13-32893369-GC-TG |
c.223_224delinsTG |
p.Ala75Cys |
Missense |
3/27 |
- |
1 |
13-32893369-G-C |
c.223G>C |
p.Ala75Pro |
Missense |
3/27 |
- |
13 |
13-32893373-C-G |
c.227C>G |
p.Ser76* |
Nonsense |
3/27 |
- |
1 |
13-32893373-C-A |
c.227C>A |
p.Ser76* |
Nonsense |
3/27 |
- |
1 |
13-32893375-A-G |
c.229A>G |
p.Thr77Ala |
Missense |
3/27 |
- |
2 |
13-32893377-T-G |
c.231T>G |
p.Thr77Thr |
Synonymous |
3/27 |
- |
3 |
13-32893390-A-T |
c.244A>T |
p.Lys82* |
Nonsense |
3/27 |
- |
1 |
13-32893392-A-AA |
c.246dup |
p.Glu83Argfs*18 |
Frameshift |
3/27 |
- |
1 |
13-32893396-C-T |
c.250C>T |
p.Gln84* |
Nonsense |
3/27 |
- |
5 |
13-32893408-TCT-T |
c.262_263del |
p.Leu88Alafs*12 |
Frameshift |
3/27 |
- |
7 |
13-32893412-C-T |
c.266C>T |
p.Pro89Leu |
Missense |
3/27 |
- |
1 |
13-32893413-G-A |
c.267G>A |
p.Pro89Pro |
Synonymous |
3/27 |
- |
1 |
13-32893419-C-G |
c.273C>G |
p.Tyr91* |
Nonsense |
3/27 |
- |
1 |
13-32893419-C-A |
c.273C>A |
p.Tyr91* |
Nonsense |
3/27 |
- |
1 |
13-32893420-C-T |
c.274C>T |
p.Gln92* |
Nonsense |
3/27 |
- |
2 |
13-32893421-A-G |
c.275A>G |
p.Gln92Arg |
Missense |
3/27 |
- |
1 |
13-32893422-A-AA |
c.276dup |
p.Ser93Ilefs*8 |
Frameshift |
3/27 |
- |
4 |
13-32893423-ATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGT-A |
c.277_316+19del |
- |
SpliceDonorDeletion |
3/27 |
3/26 |
1 |
13-32893426-C-T |
c.280C>T |
p.Pro94Ser |
Missense |
3/27 |
- |
2 |
13-32893435-GAA-TGT |
c.289_291delinsTGT |
p.Glu97Cys |
Missense |
3/27 |
- |
1 |
13-32893435-G-T |
c.289G>T |
p.Glu97* |
Nonsense |
3/27 |
- |
3 |
13-32893436-A-T |
c.290A>T |
p.Glu97Val |
Missense |
3/27 |
- |
1 |
13-32893439-T-G |
c.293T>G |
p.Leu98* |
Nonsense |
3/27 |
- |
1 |
13-32893439-T-A |
c.293T>A |
p.Leu98* |
Nonsense |
3/27 |
- |
1 |
13-32893440-A-G |
c.294A>G |
p.Leu98Leu |
Synonymous |
3/27 |
- |
1 |
13-32893444-A-T |
c.298A>T |
p.Lys100* |
Nonsense |
3/27 |
- |
1 |
13-32893450-A-T |
c.304A>T |
p.Lys102* |
Nonsense |
3/27 |
- |
1 |
13-32893452-AA-A |
c.306del |
p.Lys102Asnfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893452-A-AA |
c.306dup |
p.Leu103Ilefs*10 |
Frameshift |
3/27 |
- |
3 |
13-32893453-T-A |
c.307T>A |
p.Leu103Ile |
Missense |
3/27 |
- |
1 |
13-32893456-G-C |
c.310G>C |
p.Asp104His |
Missense |
3/27 |
- |
1 |
13-32893456-G-A |
c.310G>A |
p.Asp104Asn |
Missense |
3/27 |
- |
1 |
13-32893459-CTTA-C |
c.313_315del |
p.Leu105del |
InFrameDeletion |
3/27 |
- |
1 |
13-32893460-T-A |
c.314T>A |
p.Leu105* |
Nonsense |
3/27 |
- |
1 |
13-32893460-T-G |
c.314T>G |
p.Leu105* |
Nonsense |
3/27 |
- |
1 |
13-32893463-G-T |
c.316+1G>T |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893464-T-C |
c.316+2T>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893466-AA-A |
c.316+4del |
- |
IntronicDeletion |
- |
3/26 |
2 |
13-32893467-G-C |
c.316+5G>C |
- |
IntronicSNV |
- |
3/26 |
5 |
13-32893467-G-A |
c.316+5G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893471-T-A |
c.316+9T>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893495-C-G |
c.316+33C>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893535-A-G |
c.316+73A>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893583-T-C |
c.316+121T>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893791-A-G |
c.316+329A>G |
- |
IntronicSNV |
- |
3/26 |
3 |
13-32894484-G-A |
c.316+1022G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32895377-G-C |
c.316+1915G>C |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32896846-G-A |
c.317-2367G>A |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32899159-C-G |
c.317-54C>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899216-G-C |
c.320G>C |
p.Arg107Thr |
Missense |
4/27 |
- |
1 |
13-32899219-A-G |
c.323A>G |
p.Asn108Ser |
Missense |
4/27 |
- |
1 |
13-32899224-C-G |
c.328C>G |
p.Pro110Ala |
Missense |
4/27 |
- |
3 |
13-32899224-C-T |
c.328C>T |
p.Pro110Ser |
Missense |
4/27 |
- |
1 |
13-32899227-AA-GC |
c.331_332delinsGC |
p.Asn111Ala |
Missense |
4/27 |
- |
1 |
13-32899233-AG-GC |
c.337_338delinsGC |
p.Arg113Ala |
Missense |
4/27 |
- |
1 |
13-32899240-A-C |
c.344A>C |
p.Lys115Thr |
Missense |
4/27 |
- |
1 |
13-32899247-TTC-T |
c.351_352del |
p.Arg118Hisfs*5 |
Frameshift |
4/27 |
- |
1 |
13-32899249-G-A |
c.353G>A |
p.Arg118His |
Missense |
4/27 |
- |
3 |
13-32899251-A-G |
c.355A>G |
p.Thr119Ala |
Missense |
4/27 |
- |
1 |
13-32899262-T-TT |
c.366dup |
p.Lys123* |
Nonsense |
4/27 |
- |
1 |
13-32899266-AA-A |
c.370del |
p.Met124Trpfs*12 |
Frameshift |
4/27 |
- |
1 |
13-32899269-G-T |
c.373G>T |
p.Asp125Tyr |
Missense |
4/27 |
- |
1 |
13-32899270-A-G |
c.374A>G |
p.Asp125Gly |
Missense |
4/27 |
- |
1 |
13-32899275-G-T |
c.379G>T |
p.Ala127Ser |
Missense |
4/27 |
- |
1 |
13-32899275-G-A |
c.379G>A |
p.Ala127Thr |
Missense |
4/27 |
- |
1 |
13-32899279-A-G |
c.383A>G |
p.Asp128Gly |
Missense |
4/27 |
- |
1 |
13-32899282-A-G |
c.386A>G |
p.Asp129Gly |
Missense |
4/27 |
- |
1 |
13-32899284-G-A |
c.388G>A |
p.Val130Ile |
Missense |
4/27 |
- |
1 |
13-32899285-GTTTCCTGTCCACTTCTAA-G |
c.389_406del |
p.Val130_Asn136delinsAsp |
MultiAAMissense |
4/27 |
- |
1 |
13-32899291-G-C |
c.395G>C |
p.Cys132Ser |
Missense |
4/27 |
- |
1 |
13-32899290-T-A |
c.394T>A |
p.Cys132Ser |
Missense |
4/27 |
- |
1 |
13-32899297-CTT-C |
c.401_402del |
p.Leu134Profs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899301-TAAATTCTTGTCT-T |
c.405_416del |
p.Asn136_Leu139del |
InFrameDeletion |
4/27 |
- |
1 |
13-32899303-AA-A |
c.407del |
p.Asn136Ilefs*16 |
Frameshift |
4/27 |
- |
2 |
13-32899311-C-A |
c.415C>A |
p.Leu139Ile |
Missense |
4/27 |
- |
1 |
13-32899312-T-C |
c.416T>C |
p.Leu139Pro |
Missense |
4/27 |
- |
1 |
13-32899321-G-A |
c.425G>A |
p.Ser142Asn |
Missense |
4/27 |
- |
1 |
13-32899321-G-T |
c.425G>T |
p.Ser142Ile |
Missense |
4/27 |
- |
2 |
13-32899323-T-C |
c.425+2T>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899350-T-C |
c.425+29T>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899354-A-G |
c.425+33A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899388-A-C |
c.425+67A>C |
- |
IntronicSNV |
- |
4/26 |
3 |
13-32900149-T-C |
c.426-89T>C |
- |
IntronicSNV |
- |
4/26 |
4 |
13-32900181-A-G |
c.426-57A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900226-TGTTTT-T |
c.426-12_426-8del |
- |
IntronicDeletion |
- |
4/26 |
1 |
13-32900236-A-T |
c.426-2A>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900236-A-G |
c.426-2A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900238-GT-G |
c.426del |
p.Pro143Leufs*9 |
Frameshift |
5/27 |
- |
1 |
13-32900242-G-T |
c.430G>T |
p.Val144Phe |
Missense |
5/27 |
- |
1 |
13-32900245-TGTT-T |
c.433_435del |
p.Val145del |
InFrameDeletion |
5/27 |
- |
2 |
13-32900251-C-T |
c.439C>T |
p.Gln147* |
Nonsense |
5/27 |
- |
1 |
13-32900252-A-G |
c.440A>G |
p.Gln147Arg |
Missense |
5/27 |
- |
8 |
13-32900254-T-C |
c.442T>C |
p.Cys148Arg |
Missense |
5/27 |
- |
1 |
13-32900257-A-C |
c.445A>C |
p.Thr149Pro |
Missense |
5/27 |
- |
1 |
13-32900266-ACA-TGT |
c.454_456inv |
p.Thr152Cys |
Missense |
5/27 |
- |
1 |
13-32900274-AAA-A |
c.462_463del |
p.Asp156* |
Frameshift |
5/27 |
- |
4 |
13-32900276-AGAGAT-A |
c.464_468del |
p.Arg155Lysfs*26 |
Frameshift |
5/27 |
- |
2 |
13-32900276-G-A |
c.464G>A |
p.Arg155Lys |
Missense |
5/27 |
- |
1 |
13-32900276-G-C |
c.464G>C |
p.Arg155Thr |
Missense |
5/27 |
- |
1 |
13-32900279-A-G |
c.467A>G |
p.Asp156Gly |
Missense |
5/27 |
- |
1 |
13-32900280-T-TT |
c.468dup |
p.Lys157* |
Nonsense |
5/27 |
- |
2 |
13-32900280-T-G |
c.468T>G |
p.Asp156Glu |
Missense |
5/27 |
- |
2 |
13-32900281-TAA-T |
c.469_470del |
p.Lys157Valfs*25 |
Frameshift |
5/27 |
- |
4 |
13-32900281-A-T |
c.469A>T |
p.Lys157* |
Nonsense |
5/27 |
- |
2 |
13-32900282-AAGTCA-A |
c.470_474del |
p.Lys157Serfs*24 |
SpliceDonorDeletion |
5/27 |
- |
6 |
13-32900284-T-G |
c.472T>G |
p.Ser158Ala |
Missense |
5/27 |
- |
1 |
13-32900284-TCA-GAC |
c.472_474delinsGAC |
p.Ser158Asp |
Missense |
5/27 |
- |
1 |
13-32900285-C-A |
c.473C>A |
p.Ser158* |
Nonsense |
5/27 |
- |
1 |
13-32900286-A-AT |
c.474_475insT |
p.Val159Cysfs*24 |
SpliceDonorInsertion |
5/27 |
- |
1 |
13-32900286-A-AC |
c.474_475insC |
p.Val159Argfs*24 |
SpliceDonorInsertion |
5/27 |
- |
1 |
13-32900286-A-AA |
c.474dup |
p.Val159Serfs*24 |
SpliceDonorInsertion |
5/27 |
- |
1 |
13-32900287-G-A |
c.475G>A |
p.Val159Met |
Missense |
5/27 |
- |
5 |
13-32900288-G-T |
c.475+1G>T |
- |
IntronicSNV |
- |
5/26 |
2 |
13-32900288-G-A |
c.475+1G>A |
- |
IntronicSNV |
- |
5/26 |
4 |
13-32900290-A-G |
c.475+3A>G |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900376-C-A |
c.476-3C>A |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900377-A-G |
c.476-2A>G |
- |
IntronicSNV |
- |
5/26 |
3 |
13-32900378-G-A |
c.476-1G>A |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900379-T-C |
c.476T>C |
p.Val159Ala |
Missense |
6/27 |
- |
1 |
13-32900379-T-A |
c.476T>A |
p.Val159Glu |
Missense |
6/27 |
- |
1 |
13-32900385-G-A |
c.482G>A |
p.Cys161Tyr |
Missense |
6/27 |
- |
1 |
13-32900386-T-G |
c.483T>G |
p.Cys161Trp |
Missense |
6/27 |
- |
2 |
13-32900386-T-A |
c.483T>A |
p.Cys161* |
Nonsense |
6/27 |
- |
1 |
13-32900389-GG-G |
c.486del |
p.Ser163Valfs*9 |
Frameshift |
6/27 |
- |
1 |
13-32900390-GAG-G |
c.487_488del |
p.Ser163Phefs*19 |
Frameshift |
6/27 |
- |
1 |
13-32900391-AGT-A |
c.488_489del |
p.Ser163Ilefs*19 |
Frameshift |
6/27 |
- |
1 |
13-32900393-T-TAAATGCTT |
c.490_491insAAATGCTT |
p.Leu164* |
Nonsense |
6/27 |
- |
1 |
13-32900394-T-A |
c.491T>A |
p.Leu164* |
Nonsense |
6/27 |
- |
1 |
13-32900395-G-T |
c.492G>T |
p.Leu164Phe |
Missense |
6/27 |
- |
1 |
13-32900399-C-A |
c.496C>A |
p.His166Asn |
Missense |
6/27 |
- |
1 |
13-32900399-C-T |
c.496C>T |
p.His166Tyr |
Missense |
6/27 |
- |
1 |
13-32900405-C-G |
c.502C>G |
p.Pro168Ala |
Missense |
6/27 |
- |
1 |
13-32900405-C-A |
c.502C>A |
p.Pro168Thr |
Missense |
6/27 |
- |
5 |
13-32900419-G-A |
c.516G>A |
p.Lys172Lys |
Synonymous |
6/27 |
- |
2 |
13-32900420-G-T |
c.516+1G>T |
- |
IntronicSNV |
- |
6/26 |
6 |
13-32900420-G-C |
c.516+1G>C |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900420-G-A |
c.516+1G>A |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900421-T-C |
c.516+2T>C |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900422-A-T |
c.516+3A>T |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900433-C-T |
c.516+14C>T |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900617-C-T |
c.517-19C>T |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900632-C-G |
c.517-4C>G |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900634-A-G |
c.517-2A>G |
- |
IntronicSNV |
- |
6/26 |
6 |
13-32900635-G-A |
c.517-1G>A |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900636-G-T |
c.517G>T |
p.Gly173Cys |
Missense |
7/27 |
- |
2 |
13-32900637-GG-G |
c.518del |
p.Gly173Valfs*12 |
Frameshift |
7/27 |
- |
2 |
13-32900637-G-T |
c.518G>T |
p.Gly173Val |
Missense |
7/27 |
- |
3 |
13-32900639-C-T |
c.520C>T |
p.Arg174Cys |
Missense |
7/27 |
- |
3 |
13-32900640-G-A |
c.521G>A |
p.Arg174His |
Missense |
7/27 |
- |
1 |
13-32900652-A-G |
c.533A>G |
p.Lys178Arg |
Missense |
7/27 |
- |
2 |
13-32900653-A-AA |
c.534dup |
p.His179Thrfs*4 |
Frameshift |
7/27 |
- |
1 |
13-32900655-A-G |
c.536A>G |
p.His179Arg |
Missense |
7/27 |
- |
2 |
13-32900658-T-TA |
c.539_540insA |
p.Ser181Phefs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900660-TCT-GAG |
c.541_543delinsGAG |
p.Ser181Glu |
Missense |
7/27 |
- |
1 |
13-32900666-AA-A |
c.547del |
p.Ser183Valfs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900669-CTA-TGG |
c.550_552delinsTGG |
p.Leu184Trp |
Missense |
7/27 |
- |
2 |
13-32900670-T-C |
c.551T>C |
p.Leu184Pro |
Missense |
7/27 |
- |
1 |
13-32900673-G-C |
c.554G>C |
p.Gly185Ala |
Missense |
7/27 |
- |
1 |
13-32900680-G-T |
c.561G>T |
p.Glu187Asp |
Missense |
7/27 |
- |
1 |
13-32900683-G-T |
c.564G>T |
p.Val188Val |
Synonymous |
7/27 |
- |
1 |
13-32900688-C-T |
c.569C>T |
p.Pro190Leu |
Missense |
7/27 |
- |
1 |
13-32900691-A-T |
c.572A>T |
p.Asp191Val |
Missense |
7/27 |
- |
1 |
13-32900693-TAT-T |
c.574_575del |
p.Met192Valfs*13 |
Frameshift |
7/27 |
- |
1 |
13-32900694-T-C |
c.575T>C |
p.Met192Thr |
Missense |
7/27 |
- |
3 |
13-32900696-T-G |
c.577T>G |
p.Ser193Ala |
Missense |
7/27 |
- |
3 |
13-32900700-G-A |
c.581G>A |
p.Trp194* |
Nonsense |
7/27 |
- |
4 |
13-32900701-G-A |
c.582G>A |
p.Trp194* |
Nonsense |
7/27 |
- |
7 |
13-32900706-G-A |
c.587G>A |
p.Ser196Asn |
Missense |
7/27 |
- |
1 |
13-32900706-G-T |
c.587G>T |
p.Ser196Ile |
Missense |
7/27 |
- |
2 |
13-32900713-A-G |
c.594A>G |
p.Leu198Leu |
Synonymous |
7/27 |
- |
1 |
13-32900711-T-C |
c.592T>C |
p.Leu198Leu |
Synonymous |
7/27 |
- |
1 |
13-32900718-C-A |
c.599C>A |
p.Thr200Lys |
Missense |
7/27 |
- |
1 |
13-32900718-C-T |
c.599C>T |
p.Thr200Ile |
Missense |
7/27 |
- |
4 |
13-32900719-A-AA |
c.600dup |
p.Pro201Thrfs*5 |
Frameshift |
7/27 |
- |
1 |
13-32900723-C-G |
c.604C>G |
p.Pro202Ala |
Missense |
7/27 |
- |
1 |
13-32900726-AC-TA |
c.607_608delinsTA |
p.Thr203Tyr |
Missense |
7/27 |
- |
1 |
13-32900726-AC-TT |
c.607_608delinsTT |
p.Thr203Phe |
Missense |
7/27 |
- |
1 |
13-32900733-AG-A |
c.614del |
p.Ser205Ilefs*6 |
Frameshift |
7/27 |
- |
2 |
13-32900736-C-G |
c.617C>G |
p.Ser206Cys |
Missense |
7/27 |
- |
2 |
13-32900738-A-G |
c.619A>G |
p.Thr207Ala |
Missense |
7/27 |
- |
2 |
13-32900738-AC-GA |
c.619_620delinsGA |
p.Thr207Asp |
Missense |
7/27 |
- |
1 |
13-32900742-T-G |
c.623T>G |
p.Val208Gly |
Missense |
7/27 |
- |
2 |
13-32900750-G-A |
c.631G>A |
p.Val211Ile |
Missense |
7/27 |
- |
7 |
13-32900750-G-C |
c.631G>C |
p.Val211Leu |
Missense |
7/27 |
- |
2 |
13-32900752-T-G |
c.631+2T>G |
- |
IntronicSNV |
- |
7/26 |
5 |
13-32900753-A-G |
c.631+3A>G |
- |
IntronicSNV |
- |
7/26 |
2 |
13-32900754-A-G |
c.631+4A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900775-C-T |
c.631+25C>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32900933-T-A |
c.631+183T>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903570-T-TT |
c.632-10dup |
- |
IntronicInsertion |
- |
7/26 |
1 |
13-32903575-T-C |
c.632-5T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903578-A-G |
c.632-2A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903579-G-A |
c.632-1G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903581-C-T |
c.633C>T |
p.Val211Val |
Synonymous |
8/27 |
- |
1 |
13-32903581-C-CC |
c.633dup |
p.Arg212Glnfs*3 |
SpliceAcceptorInsertion |
8/27 |
- |
1 |
13-32903583-AGA-A |
c.635_636del |
p.Arg212Lysfs*2 |
Frameshift |
8/27 |
- |
2 |
13-32903594-AG-A |
c.646del |
p.Ala216Hisfs*14 |
Frameshift |
8/27 |
- |
1 |
13-32903597-TC-CT |
c.649_650delinsCT |
p.Ser217Leu |
Missense |
8/27 |
- |
1 |
13-32903605-CT-C |
c.657del |
p.Val220Tyrfs*10 |
Frameshift |
8/27 |
- |
1 |
13-32903606-G-A |
c.658G>A |
p.Val220Ile |
Missense |
8/27 |
- |
1 |
13-32903606-TGT-T |
c.658_659del |
p.Val220Ilefs*4 |
Frameshift |
8/27 |
- |
33 |
13-32903612-C-A |
c.664C>A |
p.Pro222Thr |
Missense |
8/27 |
- |
1 |
13-32903621-A-G |
c.673A>G |
p.Thr225Ala |
Missense |
8/27 |
- |
1 |
13-32903627-G-A |
c.679G>A |
p.Ala227Thr |
Missense |
8/27 |
- |
1 |
13-32903630-G-A |
c.681+1G>A |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903685-C-G |
c.681+56C>G |
- |
IntronicSNV |
- |
8/26 |
6 |
13-32903685-C-T |
c.681+56C>T |
- |
IntronicSNV |
- |
8/26 |
9 |
13-32903726-TGT-T |
c.681+97_681+98del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32905044-AT-A |
c.682-12del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32905044-ATA-A |
c.682-12_682-11del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32905064-AAA-A |
c.690_691del |
p.Ser231Leufs*6 |
Frameshift |
9/27 |
- |
1 |
13-32905065-AG-CC |
c.691_692delinsCC |
p.Ser231Pro |
Missense |
9/27 |
- |
1 |
13-32905071-T-G |
c.697T>G |
p.Phe233Val |
Missense |
9/27 |
- |
1 |
13-32905074-TT-T |
c.700del |
p.Ser234Profs*7 |
Frameshift |
9/27 |
- |
4 |
13-32905084-A-G |
c.710A>G |
p.Asp237Gly |
Missense |
9/27 |
- |
1 |
13-32905103-ATGAT-A |
c.729_732del |
p.Asn243Lysfs*7 |
Frameshift |
9/27 |
- |
1 |
13-32905110-ATTTATCGCTTCTGTGACAGA-A |
c.736_755del |
p.Phe246Glnfs*2 |
Frameshift |
9/27 |
- |
1 |
13-32905110-T-G |
c.736T>G |
p.Phe246Val |
Missense |
9/27 |
- |
1 |
13-32905111-T-G |
c.737T>G |
p.Phe246Cys |
Missense |
9/27 |
- |
1 |
13-32905112-TT-T |
c.738del |
p.Phe246Leufs*5 |
Frameshift |
9/27 |
- |
2 |
13-32905113-A-AA |
c.739dup |
p.Ile247Asnfs*8 |
Frameshift |
9/27 |
- |
1 |
13-32905113-TAT-T |
c.739_740del |
p.Ile247Argfs*7 |
Frameshift |
9/27 |
- |
1 |
13-32905113-A-G |
c.739A>G |
p.Ile247Val |
Missense |
9/27 |
- |
1 |
13-32905115-C-T |
c.741C>T |
p.Ile247Ile |
Synonymous |
9/27 |
- |
1 |
13-32905115-C-A |
c.741C>A |
p.Ile247Ile |
Synonymous |
9/27 |
- |
1 |
13-32905116-G-A |
c.742G>A |
p.Ala248Thr |
Missense |
9/27 |
- |
2 |
13-32905117-C-G |
c.743C>G |
p.Ala248Gly |
Missense |
9/27 |
- |
1 |
13-32905122-G-C |
c.748G>C |
p.Val250Leu |
Missense |
9/27 |
- |
1 |
13-32905126-C-T |
c.752C>T |
p.Thr251Ile |
Missense |
9/27 |
- |
1 |
13-32905126-C-G |
c.752C>G |
p.Thr251Arg |
Missense |
9/27 |
- |
1 |
13-32905128-G-A |
c.754G>A |
p.Asp252Asn |
Missense |
9/27 |
- |
1 |
13-32905128-GA-CT |
c.754_755delinsCT |
p.Asp252Leu |
Missense |
9/27 |
- |
1 |
13-32905129-GA-G |
c.755del |
p.Asp252Alafs*25 |
Frameshift |
9/27 |
- |
1 |
13-32905129-GACAG-G |
c.755_758del |
p.Asp252Valfs*24 |
Frameshift |
9/27 |
- |
14 |
13-32905139-ACACAA-A |
c.765_769del |
p.Asn255Lysfs*19 |
Frameshift |
9/27 |
- |
1 |
13-32905145-AT-A |
c.771del |
p.Gln258Lysfs*19 |
Frameshift |
9/27 |
- |
1 |
13-32905145-ATCAAA-A |
c.771_775del |
p.Asn257Lysfs*17 |
Frameshift |
9/27 |
- |
23 |
13-32905146-C-T |
c.772C>T |
p.Gln258* |
Nonsense |
9/27 |
- |
1 |
13-32905148-AAA-A |
c.774_775del |
p.Glu260Serfs*15 |
Frameshift |
9/27 |
- |
1 |
13-32905149-A-T |
c.775A>T |
p.Arg259* |
Nonsense |
9/27 |
- |
2 |
13-32905151-A-AT |
c.777_778insT |
p.Glu260* |
Nonsense |
9/27 |
- |
1 |
13-32905152-AGA-A |
c.778_779del |
p.Glu260Serfs*15 |
Frameshift |
9/27 |
- |
1 |
13-32905158-G-A |
c.784G>A |
p.Ala262Thr |
Missense |
9/27 |
- |
1 |
13-32905158-TG-T |
c.784del |
p.Ala262Glnfs*15 |
Frameshift |
9/27 |
- |
1 |
13-32905159-C-T |
c.785C>T |
p.Ala262Val |
Missense |
9/27 |
- |
1 |
13-32905164-CA-TT |
c.790_791delinsTT |
p.His264Phe |
Missense |
9/27 |
- |
1 |
13-32905168-GG-G |
c.793+1del |
- |
IntronicDeletion |
- |
9/26 |
1 |
13-32905201-T-G |
c.793+34T>G |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32906387-C-T |
c.794-22C>T |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32906411-T-C |
c.796T>C |
p.Phe266Leu |
Missense |
10/27 |
- |
2 |
13-32906411-TT-GC |
c.796_797delinsGC |
p.Phe266Ala |
Missense |
10/27 |
- |
1 |
13-32906412-TTT-T |
c.797_798del |
p.Phe266Trpfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32906412-T-A |
c.797T>A |
p.Phe266Tyr |
Missense |
10/27 |
- |
1 |
13-32906412-T-G |
c.797T>G |
p.Phe266Cys |
Missense |
10/27 |
- |
1 |
13-32906414-G-T |
c.799G>T |
p.Gly267* |
Nonsense |
10/27 |
- |
1 |
13-32906415-G-A |
c.800G>A |
p.Gly267Glu |
Missense |
10/27 |
- |
1 |
13-32906415-G-GG |
c.800dup |
p.Thr269Asnfs*7 |
Frameshift |
10/27 |
- |
1 |
13-32906420-A-T |
c.805A>T |
p.Thr269Ser |
Missense |
10/27 |
- |
1 |
13-32906424-C-G |
c.809C>G |
p.Ser270* |
Nonsense |
10/27 |
- |
1 |
13-32906426-G-A |
c.811G>A |
p.Gly271Arg |
Missense |
10/27 |
- |
2 |
13-32906429-A-C |
c.814A>C |
p.Asn272His |
Missense |
10/27 |
- |
1 |
13-32906430-A-T |
c.815A>T |
p.Asn272Ile |
Missense |
10/27 |
- |
1 |
13-32906444-A-C |
c.829A>C |
p.Asn277His |
Missense |
10/27 |
- |
1 |
13-32906446-T-C |
c.831T>C |
p.Asn277Asn |
Synonymous |
10/27 |
- |
1 |
13-32906446-T-G |
c.831T>G |
p.Asn277Lys |
Missense |
10/27 |
- |
5 |
13-32906447-A-G |
c.832A>G |
p.Ser278Gly |
Missense |
10/27 |
- |
1 |
13-32906450-TG-GC |
c.835_836delinsGC |
p.Cys279Ala |
Missense |
10/27 |
- |
1 |
13-32906452-C-T |
c.837C>T |
p.Cys279Cys |
Synonymous |
10/27 |
- |
1 |
13-32906456-G-A |
c.841G>A |
p.Asp281Asn |
Missense |
10/27 |
- |
1 |
13-32906456-G-T |
c.841G>T |
p.Asp281Tyr |
Missense |
10/27 |
- |
2 |
13-32906458-ACCAC-A |
c.843_846del |
p.Asp281Glufs*10 |
Frameshift |
10/27 |
- |
1 |
13-32906459-C-T |
c.844C>T |
p.His282Tyr |
Missense |
10/27 |
- |
1 |
13-32906460-A-ATTTGG |
c.845_846insTTTGG |
p.Ile283Leufs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906461-ACA-A |
c.846_847del |
p.Ile283Trpfs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906462-A-G |
c.847A>G |
p.Ile283Val |
Missense |
10/27 |
- |
1 |
13-32906464-T-TT |
c.849dup |
p.Gly284Trpfs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906471-T-G |
c.856T>G |
p.Ser286Ala |
Missense |
10/27 |
- |
2 |
13-32906471-T-C |
c.856T>C |
p.Ser286Pro |
Missense |
10/27 |
- |
1 |
13-32906472-C-G |
c.857C>G |
p.Ser286* |
Nonsense |
10/27 |
- |
1 |
13-32906474-A-G |
c.859A>G |
p.Met287Val |
Missense |
10/27 |
- |
1 |
13-32906480-A-G |
c.865A>G |
p.Asn289Asp |
Missense |
10/27 |
- |
9 |
13-32906480-A-C |
c.865A>C |
p.Asn289His |
Missense |
10/27 |
- |
55 |
13-32906495-G-T |
c.880G>T |
p.Glu294* |
Nonsense |
10/27 |
- |
1 |
13-32906520-C-CA |
c.905_906insA |
p.Ser303Leufs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906529-GAA-G |
c.914_915del |
p.Glu305Glyfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906532-A-C |
c.917A>C |
p.Asp306Ala |
Missense |
10/27 |
- |
1 |
13-32906532-A-T |
c.917A>T |
p.Asp306Val |
Missense |
10/27 |
- |
1 |
13-32906539-TTT-T |
c.924_925del |
p.Ser309Ilefs*5 |
Frameshift |
10/27 |
- |
1 |
13-32906542-A-G |
c.927A>G |
p.Ser309Ser |
Synonymous |
10/27 |
- |
2 |
13-32906544-T-C |
c.929T>C |
p.Leu310Ser |
Missense |
10/27 |
- |
1 |
13-32906545-A-AA |
c.930dup |
p.Cys311Metfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906546-TG-AC |
c.931_932delinsAC |
p.Cys311Thr |
Missense |
10/27 |
- |
1 |
13-32906552-TC-GG |
c.937_938delinsGG |
p.Ser313Gly |
Missense |
10/27 |
- |
1 |
13-32906552-T-TT |
c.937dup |
p.Ser313Phefs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906558-T-A |
c.943T>A |
p.Cys315Ser |
Missense |
10/27 |
- |
10 |
13-32906561-A-G |
c.946A>G |
p.Arg316Gly |
Missense |
10/27 |
- |
1 |
13-32906570-A-G |
c.955A>G |
p.Asn319Asp |
Missense |
10/27 |
- |
1 |
13-32906571-A-C |
c.956A>C |
p.Asn319Thr |
Missense |
10/27 |
- |
6 |
13-32906571-A-G |
c.956A>G |
p.Asn319Ser |
Missense |
10/27 |
- |
1 |
13-32906571-A-AA |
c.956dup |
p.Asn319Lysfs*8 |
Frameshift |
10/27 |
- |
4 |
13-32906573-TC-T |
c.958del |
p.Leu320Tyrfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906576-CA-TC |
c.961_962delinsTC |
p.Gln321Ser |
Missense |
10/27 |
- |
1 |
13-32906576-C-T |
c.961C>T |
p.Gln321* |
Nonsense |
10/27 |
- |
4 |
13-32906578-A-C |
c.963A>C |
p.Gln321His |
Missense |
10/27 |
- |
1 |
13-32906579-A-C |
c.964A>C |
p.Lys322Gln |
Missense |
10/27 |
- |
9 |
13-32906584-A-AC |
c.969_970insC |
p.Arg324Glnfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32906586-G-C |
c.971G>C |
p.Arg324Thr |
Missense |
10/27 |
- |
3 |
13-32906591-A-AA |
c.976dup |
p.Ser326Lysfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906593-C-A |
c.978C>A |
p.Ser326Arg |
Missense |
10/27 |
- |
9 |
13-32906596-AGA-A |
c.981_982del |
p.Lys327Asnfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906598-ACTAG-A |
c.983_986del |
p.Thr328Argfs*20 |
Frameshift |
10/27 |
- |
1 |
13-32906600-AGG-TGT |
c.985_987delinsTGT |
p.Arg329Cys |
Missense |
10/27 |
- |
1 |
13-32906602-G-GT |
c.987_988insT |
p.Lys330* |
Nonsense |
10/27 |
- |
1 |
13-32906609-A-AA |
c.994dup |
p.Ile332Asnfs*4 |
Frameshift |
10/27 |
- |
4 |
13-32906609-AA-A |
c.994del |
p.Ile332Phefs*17 |
Frameshift |
10/27 |
- |
4 |
13-32906610-T-A |
c.995T>A |
p.Ile332Asn |
Missense |
10/27 |
- |
1 |
13-32906611-T-G |
c.996T>G |
p.Ile332Met |
Missense |
10/27 |
- |
1 |
13-32906615-CC-C |
c.1000del |
p.His334Metfs*15 |
Frameshift |
10/27 |
- |
2 |
13-32906615-C-CC |
c.1000dup |
p.His334Profs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906625-A-ATG |
c.1010_1011insTG |
p.Asp339Leufs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906631-A-AA |
c.1016dup |
p.Asp339Glufs*2 |
Frameshift |
10/27 |
- |
5 |
13-32906631-GA-G |
c.1016del |
p.Asp339Valfs*10 |
Frameshift |
10/27 |
- |
2 |
13-32906633-G-T |
c.1018G>T |
p.Glu340* |
Nonsense |
10/27 |
- |
1 |
13-32906637-G-C |
c.1022G>C |
p.Cys341Ser |
Missense |
10/27 |
- |
2 |
13-32906636-T-A |
c.1021T>A |
p.Cys341Ser |
Missense |
10/27 |
- |
2 |
13-32906639-G-A |
c.1024G>A |
p.Glu342Lys |
Missense |
10/27 |
- |
1 |
13-32906644-AA-A |
c.1029del |
p.Lys343Asnfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906645-T-A |
c.1030T>A |
p.Ser344Thr |
Missense |
10/27 |
- |
1 |
13-32906650-A-AT |
c.1035_1036insT |
p.Asn346* |
Nonsense |
10/27 |
- |
2 |
13-32906652-A-C |
c.1037A>C |
p.Asn346Thr |
Missense |
10/27 |
- |
1 |
13-32906654-C-T |
c.1039C>T |
p.Gln347* |
Nonsense |
10/27 |
- |
1 |
13-32906655-A-G |
c.1040A>G |
p.Gln347Arg |
Missense |
10/27 |
- |
1 |
13-32906655-A-C |
c.1040A>C |
p.Gln347Pro |
Missense |
10/27 |
- |
1 |
13-32906668-AA-A |
c.1053del |
p.Lys351Asnfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32906669-T-TT |
c.1054dup |
p.Tyr352Leufs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906673-C-T |
c.1058C>T |
p.Ser353Leu |
Missense |
10/27 |
- |
1 |
13-32906677-T-G |
c.1062T>G |
p.Phe354Leu |
Missense |
10/27 |
- |
1 |
13-32906675-T-C |
c.1060T>C |
p.Phe354Leu |
Missense |
10/27 |
- |
1 |
13-32906677-T-A |
c.1062T>A |
p.Phe354Leu |
Missense |
10/27 |
- |
1 |
13-32906676-T-C |
c.1061T>C |
p.Phe354Ser |
Missense |
10/27 |
- |
1 |
13-32906690-G-A |
c.1075G>A |
p.Glu359Lys |
Missense |
10/27 |
- |
1 |
13-32906700-A-ACA |
c.1085_1086insCA |
p.Thr363Ilefs*5 |
Frameshift |
10/27 |
- |
1 |
13-32906701-ATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTG-A |
c.1086_1141del |
p.Asp362Glufs*14 |
Frameshift |
10/27 |
- |
1 |
13-32906709-C-T |
c.1094C>T |
p.Pro365Leu |
Missense |
10/27 |
- |
1 |
13-32906711-T-G |
c.1096T>G |
p.Leu366Val |
Missense |
10/27 |
- |
1 |
13-32906717-T-A |
c.1102T>A |
p.Ser368Thr |
Missense |
10/27 |
- |
1 |
13-32906718-C-G |
c.1103C>G |
p.Ser368* |
Nonsense |
10/27 |
- |
3 |
13-32906726-G-A |
c.1111G>A |
p.Ala371Thr |
Missense |
10/27 |
- |
1 |
13-32906729-A-C |
c.1114A>C |
p.Asn372His |
Missense |
10/27 |
- |
133 |
13-32906733-A-C |
c.1118A>C |
p.Gln373Pro |
Missense |
10/27 |
- |
1 |
13-32906736-AA-A |
c.1121del |
p.Lys374Serfs*25 |
Frameshift |
10/27 |
- |
1 |
13-32906738-C-T |
c.1123C>T |
p.Pro375Ser |
Missense |
10/27 |
- |
2 |
13-32906740-CC-C |
c.1125del |
p.Phe376Leufs*23 |
Frameshift |
10/27 |
- |
1 |
13-32906743-TT-T |
c.1128del |
p.Phe376Leufs*23 |
Frameshift |
10/27 |
- |
1 |
13-32906745-A-AA |
c.1130dup |
p.Ser378Glufs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906751-G-C |
c.1136G>C |
p.Gly379Ala |
Missense |
10/27 |
- |
1 |
13-32906753-AA-A |
c.1138del |
p.Ser380Valfs*19 |
Frameshift |
10/27 |
- |
3 |
13-32906757-A-G |
c.1142A>G |
p.Asp381Gly |
Missense |
10/27 |
- |
1 |
13-32906762-AA-A |
c.1147del |
p.Ile383Serfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32906766-C-G |
c.1151C>G |
p.Ser384Cys |
Missense |
10/27 |
- |
1 |
13-32906766-C-T |
c.1151C>T |
p.Ser384Phe |
Missense |
10/27 |
- |
13 |
13-32906782-G-A |
c.1167G>A |
p.Pro389Pro |
Synonymous |
10/27 |
- |
1 |
13-32906791-C-T |
c.1176C>T |
p.Ala392Ala |
Synonymous |
10/27 |
- |
1 |
13-32906791-C-G |
c.1176C>G |
p.Ala392Ala |
Synonymous |
10/27 |
- |
1 |
13-32906791-C-A |
c.1176C>A |
p.Ala392Ala |
Synonymous |
10/27 |
- |
1 |
13-32906795-G-T |
c.1180G>T |
p.Glu394* |
Nonsense |
10/27 |
- |
2 |
13-32906796-A-C |
c.1181A>C |
p.Glu394Ala |
Missense |
10/27 |
- |
3 |
13-32906799-G-A |
c.1184G>A |
p.Trp395* |
Nonsense |
10/27 |
- |
1 |
13-32906806-A-C |
c.1191A>C |
p.Gln397His |
Missense |
10/27 |
- |
1 |
13-32906822-TCTA-T |
c.1207_1209del |
p.Leu403del |
InFrameDeletion |
10/27 |
- |
1 |
13-32906828-G-A |
c.1213G>A |
p.Gly405Arg |
Missense |
10/27 |
- |
1 |
13-32906828-G-C |
c.1213G>C |
p.Gly405Arg |
Missense |
10/27 |
- |
1 |
13-32906832-C-A |
c.1217C>A |
p.Ala406Asp |
Missense |
10/27 |
- |
1 |
13-32906837-GA-G |
c.1222del |
p.Met408Trpfs*22 |
Frameshift |
10/27 |
- |
1 |
13-32906846-AA-A |
c.1231del |
p.Ile411Tyrfs*19 |
Frameshift |
10/27 |
- |
3 |
13-32906848-A-AA |
c.1233dup |
p.Pro412Thrfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32906849-C-A |
c.1234C>A |
p.Pro412Thr |
Missense |
10/27 |
- |
1 |
13-32906853-TA-AT |
c.1238_1239delinsAT |
p.Leu413His |
Missense |
10/27 |
- |
1 |
13-32906853-CT-C |
c.1238del |
p.Leu413Hisfs*17 |
Frameshift |
10/27 |
- |
4 |
13-32906859-A-G |
c.1244A>G |
p.His415Arg |
Missense |
10/27 |
- |
3 |
13-32906859-CA-C |
c.1244del |
p.His415Leufs*15 |
Frameshift |
10/27 |
- |
1 |
13-32906861-A-G |
c.1246A>G |
p.Ile416Val |
Missense |
10/27 |
- |
1 |
13-32906862-T-G |
c.1247T>G |
p.Ile416Ser |
Missense |
10/27 |
- |
2 |
13-32906867-T-C |
c.1252T>C |
p.Ser418Pro |
Missense |
10/27 |
- |
1 |
13-32906874-A-G |
c.1259A>G |
p.Asp420Gly |
Missense |
10/27 |
- |
1 |
13-32906876-C-T |
c.1261C>T |
p.Gln421* |
Nonsense |
10/27 |
- |
2 |
13-32906876-C-A |
c.1261C>A |
p.Gln421Lys |
Missense |
10/27 |
- |
1 |
13-32906880-AA-A |
c.1265del |
p.Asn422Ilefs*8 |
Frameshift |
10/27 |
- |
2 |
13-32906880-A-G |
c.1265A>G |
p.Asn422Ser |
Missense |
10/27 |
- |
1 |
13-32906890-A-G |
c.1275A>G |
p.Glu425Glu |
Synonymous |
10/27 |
- |
3 |
13-32906892-A-C |
c.1277A>C |
p.Lys426Thr |
Missense |
10/27 |
- |
1 |
13-32906893-A-AT |
c.1278_1279insT |
p.Asp427* |
Nonsense |
10/27 |
- |
1 |
13-32906893-AA-A |
c.1278del |
p.Asp427Thrfs*3 |
Frameshift |
10/27 |
- |
3 |
13-32906901-T-G |
c.1286T>G |
p.Leu429* |
Nonsense |
10/27 |
- |
1 |
13-32906906-A-AT |
c.1291_1292insT |
p.Thr431Ilefs*21 |
Frameshift |
10/27 |
- |
1 |
13-32906907-C-T |
c.1292C>T |
p.Thr431Ile |
Missense |
10/27 |
- |
1 |
13-32906909-G-T |
c.1294G>T |
p.Glu432* |
Nonsense |
10/27 |
- |
1 |
13-32906909-G-C |
c.1294G>C |
p.Glu432Gln |
Missense |
10/27 |
- |
1 |
13-32906911-G-GT |
c.1296_1297insT |
p.Asn433* |
Nonsense |
10/27 |
- |
2 |
13-32906911-AGA-A |
c.1296_1297del |
p.Asn433Glnfs*18 |
Frameshift |
10/27 |
- |
4 |
13-32906915-CAAAA-C |
c.1300_1303del |
p.Lys434Glufs*25 |
Frameshift |
10/27 |
- |
1 |
13-32906918-A-AA |
c.1303dup |
p.Arg435Lysfs*17 |
Frameshift |
10/27 |
- |
1 |
13-32906921-AAAGAAAGA-A |
c.1306_1313del |
p.Lys436Phefs*13 |
Frameshift |
10/27 |
- |
1 |
13-32906921-A-G |
c.1306A>G |
p.Lys436Glu |
Missense |
10/27 |
- |
1 |
13-32906925-AAAGA-A |
c.1310_1313del |
p.Lys437Ilefs*22 |
Frameshift |
10/27 |
- |
22 |
13-32906926-AA-A |
c.1311del |
p.Asp438Ilefs*22 |
Frameshift |
10/27 |
- |
1 |
13-32906926-AAGAT-A |
c.1311_1314del |
p.Lys437Asnfs*22 |
Frameshift |
10/27 |
- |
3 |
13-32906933-TC-T |
c.1318del |
p.Thr441Leufs*19 |
Frameshift |
10/27 |
- |
1 |
13-32906935-TTACTT-T |
c.1320_1324del |
p.Thr441Argfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32906936-TACTT-T |
c.1321_1324del |
p.Thr441Glnfs*18 |
Frameshift |
10/27 |
- |
1 |
13-32906937-C-T |
c.1322C>T |
p.Thr441Ile |
Missense |
10/27 |
- |
1 |
13-32906949-C-A |
c.1334C>A |
p.Ser445Tyr |
Missense |
10/27 |
- |
1 |
13-32906952-T-A |
c.1337T>A |
p.Leu446* |
Nonsense |
10/27 |
- |
1 |
13-32906956-A-C |
c.1341A>C |
p.Pro447Pro |
Synonymous |
10/27 |
- |
1 |
13-32906956-CAC-C |
c.1341_1342del |
p.Arg448Tyrfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32906957-C-T |
c.1342C>T |
p.Arg448Cys |
Missense |
10/27 |
- |
2 |
13-32906958-G-A |
c.1343G>A |
p.Arg448His |
Missense |
10/27 |
- |
2 |
13-32906966-AGC-TGA |
c.1351_1353delinsTGA |
p.Ser451* |
Nonsense |
10/27 |
- |
1 |
13-32906968-C-T |
c.1353C>T |
p.Ser451Ser |
Synonymous |
10/27 |
- |
1 |
13-32906969-C-A |
c.1354C>A |
p.Leu452Ile |
Missense |
10/27 |
- |
1 |
13-32906970-CTACCAAAATCAGAGAAGCCATTAAAT-C |
c.1355_1380del |
p.Leu452Argfs*7 |
Frameshift |
10/27 |
- |
1 |
13-32906977-AA-A |
c.1362del |
p.Lys454Asnfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906977-A-G |
c.1362A>G |
p.Lys454Lys |
Synonymous |
10/27 |
- |
2 |
13-32906980-A-G |
c.1365A>G |
p.Ser455Ser |
Synonymous |
10/27 |
- |
22 |
13-32906983-G-T |
c.1368G>T |
p.Glu456Asp |
Missense |
10/27 |
- |
1 |
13-32906983-G-C |
c.1368G>C |
p.Glu456Asp |
Missense |
10/27 |
- |
1 |
13-32906983-AGA-A |
c.1368_1369del |
p.Lys457Alafs*4 |
Frameshift |
10/27 |
- |
2 |
13-32906991-T-C |
c.1376T>C |
p.Leu459Ser |
Missense |
10/27 |
- |
1 |
13-32907000-A-G |
c.1385A>G |
p.Glu462Gly |
Missense |
10/27 |
- |
10 |
13-32907000-A-T |
c.1385A>T |
p.Glu462Val |
Missense |
10/27 |
- |
1 |
13-32907002-AA-A |
c.1387del |
p.Thr463Glnfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32907004-CAG-C |
c.1389_1390del |
p.Val464Glyfs*3 |
Frameshift |
10/27 |
- |
4 |
13-32907009-T-G |
c.1394T>G |
p.Val465Gly |
Missense |
10/27 |
- |
1 |
13-32907010-A-C |
c.1395A>C |
p.Val465Val |
Synonymous |
10/27 |
- |
5 |
13-32907010-A-T |
c.1395A>T |
p.Val465Val |
Synonymous |
10/27 |
- |
2 |
13-32907010-A-G |
c.1395A>G |
p.Val465Val |
Synonymous |
10/27 |
- |
2 |
13-32907014-A-T |
c.1399A>T |
p.Lys467* |
Nonsense |
10/27 |
- |
17 |
13-32907017-A-G |
c.1402A>G |
p.Arg468Gly |
Missense |
10/27 |
- |
1 |
13-32907020-AGA-A |
c.1405_1406del |
p.Asp469* |
Frameshift |
10/27 |
- |
3 |
13-32907023-G-T |
c.1408G>T |
p.Glu470* |
Nonsense |
10/27 |
- |
1 |
13-32907023-G-C |
c.1408G>C |
p.Glu470Gln |
Missense |
10/27 |
- |
1 |
13-32907031-AGCATC-A |
c.1416_1420del |
p.Gln472Hisfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907034-T-C |
c.1419T>C |
p.His473His |
Synonymous |
10/27 |
- |
1 |
13-32907037-T-A |
c.1422T>A |
p.Leu474Leu |
Synonymous |
10/27 |
- |
1 |
13-32907037-T-C |
c.1422T>C |
p.Leu474Leu |
Synonymous |
10/27 |
- |
1 |
13-32907037-T-G |
c.1422T>G |
p.Leu474Leu |
Synonymous |
10/27 |
- |
1 |
13-32907044-TC-T |
c.1429del |
p.His477Ilefs*8 |
Frameshift |
10/27 |
- |
1 |
13-32907046-T-C |
c.1431T>C |
p.His477His |
Synonymous |
10/27 |
- |
1 |
13-32907050-G-T |
c.1435G>T |
p.Asp479Tyr |
Missense |
10/27 |
- |
1 |
13-32907052-C-G |
c.1437C>G |
p.Asp479Glu |
Missense |
10/27 |
- |
2 |
13-32907055-C-A |
c.1440C>A |
p.Cys480* |
Nonsense |
10/27 |
- |
1 |
13-32907056-A-G |
c.1441A>G |
p.Ile481Val |
Missense |
10/27 |
- |
1 |
13-32907059-TC-T |
c.1444del |
p.Ala483Glnfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907063-C-T |
c.1448C>T |
p.Ala483Val |
Missense |
10/27 |
- |
1 |
13-32907071-C-T |
c.1456C>T |
p.Gln486* |
Nonsense |
10/27 |
- |
1 |
13-32907075-C-A |
c.1460C>A |
p.Ala487Glu |
Missense |
10/27 |
- |
1 |
13-32907076-A-T |
c.1461A>T |
p.Ala487Ala |
Synonymous |
10/27 |
- |
1 |
13-32907077-A-AA |
c.1462dup |
p.Ile488Asnfs*26 |
Frameshift |
10/27 |
- |
1 |
13-32907077-A-G |
c.1462A>G |
p.Ile488Val |
Missense |
10/27 |
- |
1 |
13-32907078-T-G |
c.1463T>G |
p.Ile488Arg |
Missense |
10/27 |
- |
1 |
13-32907093-C-T |
c.1478C>T |
p.Pro493Leu |
Missense |
10/27 |
- |
1 |
13-32907098-G-A |
c.1483G>A |
p.Ala495Thr |
Missense |
10/27 |
- |
1 |
13-32907102-C-T |
c.1487C>T |
p.Ser496Phe |
Missense |
10/27 |
- |
1 |
13-32907102-TCT-T |
c.1487_1488del |
p.Ser496Phefs*17 |
Frameshift |
10/27 |
- |
1 |
13-32907108-T-G |
c.1493T>G |
p.Phe498Cys |
Missense |
10/27 |
- |
1 |
13-32907114-GG-G |
c.1499del |
p.Gly500Valfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32907119-A-C |
c.1504A>C |
p.Lys502Gln |
Missense |
10/27 |
- |
1 |
13-32907119-CAAAAA-C |
c.1504_1508del |
p.Lys502Valfs*10 |
Frameshift |
10/27 |
- |
2 |
13-32907120-AAAAA-A |
c.1505_1508del |
p.Lys502Serfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907126-TCT-T |
c.1511_1512del |
p.Ser504Tyrfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32907129-T-G |
c.1514T>G |
p.Ile505Arg |
Missense |
10/27 |
- |
1 |
13-32907129-T-C |
c.1514T>C |
p.Ile505Thr |
Missense |
10/27 |
- |
7 |
13-32907131-ATTCAG-A |
c.1516_1520del |
p.Phe506Asnfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907133-C-T |
c.1518C>T |
p.Phe506Phe |
Synonymous |
10/27 |
- |
1 |
13-32907141-G-T |
c.1526G>T |
p.Arg509Ile |
Missense |
10/27 |
- |
1 |
13-32907143-G-T |
c.1528G>T |
p.Glu510* |
Nonsense |
10/27 |
- |
6 |
13-32907145-A-G |
c.1530A>G |
p.Glu510Glu |
Synonymous |
10/27 |
- |
1 |
13-32907153-A-G |
c.1538A>G |
p.Lys513Arg |
Missense |
10/27 |
- |
3 |
13-32907161-TTT-T |
c.1546_1547del |
p.Phe516Glnfs*10 |
Frameshift |
10/27 |
- |
1 |
13-32907165-A-G |
c.1550A>G |
p.Asn517Ser |
Missense |
10/27 |
- |
4 |
13-32907168-C-CT |
c.1553_1554insT |
p.Ser519Lysfs*8 |
Frameshift |
10/27 |
- |
1 |
13-32907171-G-C |
c.1556G>C |
p.Ser519Thr |
Missense |
10/27 |
- |
1 |
13-32907183-A-G |
c.1568A>G |
p.His523Arg |
Missense |
10/27 |
- |
5 |
13-32907185-TAT-T |
c.1570_1571del |
p.Met524Aspfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907198-AA-A |
c.1583del |
p.Asn528Thrfs*30 |
Frameshift |
10/27 |
- |
1 |
13-32907203-A-T |
c.1588A>T |
p.Lys530* |
Nonsense |
10/27 |
- |
1 |
13-32907208-A-G |
c.1593A>G |
p.Lys531Lys |
Synonymous |
10/27 |
- |
1 |
13-32907208-AA-A |
c.1593del |
p.Glu532Lysfs*26 |
Frameshift |
10/27 |
- |
1 |
13-32907208-A-AA |
c.1593dup |
p.Glu532Argfs*3 |
Frameshift |
10/27 |
- |
2 |
13-32907215-G-A |
c.1600G>A |
p.Glu534Lys |
Missense |
10/27 |
- |
1 |
13-32907216-A-G |
c.1601A>G |
p.Glu534Gly |
Missense |
10/27 |
- |
1 |
13-32907228-G-A |
c.1613G>A |
p.Ser538Asn |
Missense |
10/27 |
- |
1 |
13-32907231-G-C |
c.1616G>C |
p.Gly539Ala |
Missense |
10/27 |
- |
1 |
13-32907236-G-A |
c.1621G>A |
p.Glu541Lys |
Missense |
10/27 |
- |
1 |
13-32907238-A-C |
c.1623A>C |
p.Glu541Asp |
Missense |
10/27 |
- |
1 |
13-32907238-A-T |
c.1623A>T |
p.Glu541Asp |
Missense |
10/27 |
- |
1 |
13-32907241-A-G |
c.1626A>G |
p.Ile542Met |
Missense |
10/27 |
- |
1 |
13-32907242-C-A |
c.1627C>A |
p.His543Asn |
Missense |
10/27 |
- |
3 |
13-32907246-C-T |
c.1631C>T |
p.Thr544Ile |
Missense |
10/27 |
- |
1 |
13-32907251-TT-T |
c.1636del |
p.Cys546Alafs*12 |
Frameshift |
10/27 |
- |
1 |
13-32907257-C-T |
c.1642C>T |
p.Gln548* |
Nonsense |
10/27 |
- |
2 |
13-32907259-G-A |
c.1644G>A |
p.Gln548Gln |
Synonymous |
10/27 |
- |
1 |
13-32907260-A-G |
c.1645A>G |
p.Lys549Glu |
Missense |
10/27 |
- |
1 |
13-32907262-G-A |
c.1647G>A |
p.Lys549Lys |
Synonymous |
10/27 |
- |
1 |
13-32907273-T-G |
c.1658T>G |
p.Leu553* |
Nonsense |
10/27 |
- |
1 |
13-32907273-T-A |
c.1658T>A |
p.Leu553* |
Nonsense |
10/27 |
- |
1 |
13-32907274-A-G |
c.1659A>G |
p.Leu553Leu |
Synonymous |
10/27 |
- |
1 |
13-32907277-T-G |
c.1662T>G |
p.Cys554Trp |
Missense |
10/27 |
- |
4 |
13-32907285-T-G |
c.1670T>G |
p.Leu557* |
Nonsense |
10/27 |
- |
3 |
13-32907291-A-G |
c.1676A>G |
p.Asp559Gly |
Missense |
10/27 |
- |
2 |
13-32907294-A-G |
c.1679A>G |
p.Asn560Ser |
Missense |
10/27 |
- |
1 |
13-32907295-T-C |
c.1680T>C |
p.Asn560Asn |
Synonymous |
10/27 |
- |
1 |
13-32907303-G-A |
c.1688G>A |
p.Trp563* |
Nonsense |
10/27 |
- |
2 |
13-32907318-C-T |
c.1703C>T |
p.Thr568Ile |
Missense |
10/27 |
- |
1 |
13-32907320-ACA-A |
c.1705_1706del |
p.Gln569Glufs*20 |
Frameshift |
10/27 |
- |
1 |
13-32907324-A-G |
c.1709A>G |
p.Asn570Ser |
Missense |
10/27 |
- |
1 |
13-32907329-G-T |
c.1714G>T |
p.Val572Leu |
Missense |
10/27 |
- |
1 |
13-32907329-G-A |
c.1714G>A |
p.Val572Ile |
Missense |
10/27 |
- |
1 |
13-32907329-G-C |
c.1714G>C |
p.Val572Leu |
Missense |
10/27 |
- |
1 |
13-32907351-T-G |
c.1736T>G |
p.Leu579* |
Nonsense |
10/27 |
- |
2 |
13-32907359-A-C |
c.1744A>C |
p.Thr582Pro |
Missense |
10/27 |
- |
11 |
13-32907359-A-G |
c.1744A>G |
p.Thr582Ala |
Missense |
10/27 |
- |
1 |
13-32907363-T-TA |
c.1748_1749insA |
p.Lys584Glufs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907363-T-A |
c.1748T>A |
p.Leu583* |
Nonsense |
10/27 |
- |
3 |
13-32907364-G-A |
c.1749G>A |
p.Leu583Leu |
Synonymous |
10/27 |
- |
1 |
13-32907369-AA-A |
c.1754del |
p.Lys585Argfs*29 |
Frameshift |
10/27 |
- |
2 |
13-32907370-AGAAAA-A |
c.1755_1759del |
p.Lys585Asnfs*3 |
Frameshift |
10/27 |
- |
3 |
13-32907377-A-G |
c.1762A>G |
p.Asn588Asp |
Missense |
10/27 |
- |
2 |
13-32907378-AATAA-A |
c.1763_1766del |
p.Asn588Serfs*25 |
Frameshift |
10/27 |
- |
5 |
13-32907384-T-G |
c.1769T>G |
p.Phe590Cys |
Missense |
10/27 |
- |
1 |
13-32907386-AT-TA |
c.1771_1772delinsTA |
p.Ile591Tyr |
Missense |
10/27 |
- |
1 |
13-32907387-T-C |
c.1772T>C |
p.Ile591Thr |
Missense |
10/27 |
- |
2 |
13-32907387-TT-AG |
c.1772_1773delinsAG |
p.Ile591Lys |
Missense |
10/27 |
- |
1 |
13-32907388-TTTAT-T |
c.1773_1776del |
p.Ile591Metfs*22 |
Frameshift |
10/27 |
- |
2 |
13-32907388-T-G |
c.1773T>G |
p.Ile591Met |
Missense |
10/27 |
- |
1 |
13-32907389-TT-T |
c.1774del |
p.Tyr592Metfs*22 |
Frameshift |
10/27 |
- |
1 |
13-32907395-A-T |
c.1780A>T |
p.Ile594Leu |
Missense |
10/27 |
- |
1 |
13-32907398-C-T |
c.1783C>T |
p.His595Tyr |
Missense |
10/27 |
- |
1 |
13-32907401-G-C |
c.1786G>C |
p.Asp596His |
Missense |
10/27 |
- |
3 |
13-32907402-GATGAAACATCTTA-G |
c.1787_1799del |
p.Asp596Valfs*14 |
Frameshift |
10/27 |
- |
1 |
13-32907403-T-C |
c.1788T>C |
p.Asp596Asp |
Synonymous |
10/27 |
- |
1 |
13-32907407-AA-A |
c.1792del |
p.Thr598Hisfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32907407-A-G |
c.1792A>G |
p.Thr598Ala |
Missense |
10/27 |
- |
11 |
13-32907410-TC-GG |
c.1795_1796delinsGG |
p.Ser599Gly |
Missense |
10/27 |
- |
1 |
13-32907411-TCTTAT-T |
c.1796_1800del |
p.Ser599* |
Frameshift |
10/27 |
- |
9 |
13-32907411-CT-AA |
c.1796_1797delinsAA |
p.Ser599* |
Nonsense |
10/27 |
- |
1 |
13-32907413-T-G |
c.1798T>G |
p.Tyr600Asp |
Missense |
10/27 |
- |
1 |
13-32907413-T-C |
c.1798T>C |
p.Tyr600His |
Missense |
10/27 |
- |
3 |
13-32907415-T-G |
c.1800T>G |
p.Tyr600* |
Nonsense |
10/27 |
- |
1 |
13-32907415-T-A |
c.1800T>A |
p.Tyr600* |
Nonsense |
10/27 |
- |
1 |
13-32907418-A-AA |
c.1803dup |
p.Gly602Argfs*14 |
Frameshift |
10/27 |
- |
4 |
13-32907419-G-A |
c.1804G>A |
p.Gly602Arg |
Missense |
10/27 |
- |
6 |
13-32907425-A-G |
c.1810A>G |
p.Lys604Glu |
Missense |
10/27 |
- |
1 |
13-32907428-AA-A |
c.1813del |
p.Ile605Tyrfs*9 |
Frameshift |
10/27 |
- |
6 |
13-32907428-A-AA |
c.1813dup |
p.Ile605Asnfs*11 |
Frameshift |
10/27 |
- |
33 |
13-32907430-A-AA |
c.1815dup |
p.Pro606Thrfs*10 |
Frameshift |
10/27 |
- |
2 |
13-32907435-A-C |
c.1820A>C |
p.Lys607Thr |
Missense |
10/27 |
- |
4 |
13-32907438-A-AA |
c.1823dup |
p.Asp608Glufs*8 |
Frameshift |
10/27 |
- |
1 |
13-32907440-C-T |
c.1825C>T |
p.Gln609* |
Nonsense |
10/27 |
- |
2 |
13-32907440-C-G |
c.1825C>G |
p.Gln609Glu |
Missense |
10/27 |
- |
3 |
13-32907447-C-A |
c.1832C>A |
p.Ser611* |
Nonsense |
10/27 |
- |
5 |
13-32907448-A-AA |
c.1833dup |
p.Glu612Argfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32907449-G-A |
c.1834G>A |
p.Glu612Lys |
Missense |
10/27 |
- |
1 |
13-32907453-T-G |
c.1838T>G |
p.Leu613Arg |
Missense |
10/27 |
- |
1 |
13-32907457-T-TT |
c.1842dup |
p.Asn615* |
Nonsense |
10/27 |
- |
2 |
13-32907460-ACT-A |
c.1845_1846del |
p.Asn615Lysfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907465-C-A |
c.1850C>A |
p.Ser617* |
Nonsense |
10/27 |
- |
1 |
13-32907470-C-T |
c.1855C>T |
p.Gln619* |
Nonsense |
10/27 |
- |
2 |
13-32907471-A-AA |
c.1856dup |
p.Phe620Valfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907486-C-T |
c.1871C>T |
p.Ala624Val |
Missense |
10/27 |
- |
1 |
13-32907495-C-T |
c.1880C>T |
p.Ala627Val |
Missense |
10/27 |
- |
1 |
13-32907496-CA-C |
c.1881del |
p.Pro628Hisfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32907502-TTACATTT-T |
c.1887_1893del |
p.Thr630Glnfs*12 |
Frameshift |
10/27 |
- |
1 |
13-32907503-A-AA |
c.1888dup |
p.Thr630Asnfs*6 |
Frameshift |
10/27 |
- |
3 |
13-32907503-A-AAA |
c.1888_1889insAA |
p.Thr630Lysfs*15 |
Frameshift |
10/27 |
- |
1 |
13-32907504-AC-A |
c.1889del |
p.Thr630Asnfs*14 |
Frameshift |
10/27 |
- |
2 |
13-32907504-CA-AC |
c.1889_1890delinsAC |
p.Thr630Asn |
Missense |
10/27 |
- |
1 |
13-32907504-C-T |
c.1889C>T |
p.Thr630Ile |
Missense |
10/27 |
- |
6 |
13-32907510-C-G |
c.1895C>G |
p.Ala632Gly |
Missense |
10/27 |
- |
1 |
13-32907520-ATTCAG-A |
c.1905_1909del |
p.Asp635Glufs*15 |
SpliceDonorDeletion |
10/27 |
- |
1 |
13-32907525-G-A |
c.1909+1G>A |
- |
IntronicSNV |
- |
10/26 |
2 |
13-32907532-CT-C |
c.1909+8del |
- |
IntronicDeletion |
- |
10/26 |
1 |
13-32907546-TT-T |
c.1909+22del |
- |
IntronicDeletion |
- |
10/26 |
2 |
13-32910328-T-C |
c.1910-74T>C |
- |
IntronicSNV |
- |
10/26 |
4 |
13-32910351-G-T |
c.1910-51G>T |
- |
IntronicSNV |
- |
10/26 |
2 |
13-32910365-G-GG |
c.1910-37dup |
- |
IntronicInsertion |
- |
10/26 |
1 |
13-32910403-T-C |
c.1911T>C |
p.Gly637Gly |
Synonymous |
11/27 |
- |
2 |
13-32910414-C-A |
c.1922C>A |
p.Ser641Tyr |
Missense |
11/27 |
- |
1 |
13-32910416-T-C |
c.1924T>C |
p.Ser642Pro |
Missense |
11/27 |
- |
1 |
13-32910421-TG-T |
c.1929del |
p.Arg645Glufs*15 |
Frameshift |
11/27 |
- |
9 |
13-32910424-A-AT |
c.1932_1933insT |
p.Arg645* |
Nonsense |
11/27 |
- |
1 |
13-32910425-AG-GA |
c.1933_1934delinsGA |
p.Arg645Glu |
Missense |
11/27 |
- |
1 |
13-32910426-G-GG |
c.1934dup |
p.Ser646Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32910426-G-A |
c.1934G>A |
p.Arg645Lys |
Missense |
11/27 |
- |
1 |
13-32910430-C-T |
c.1938C>T |
p.Ser646Ser |
Synonymous |
11/27 |
- |
2 |
13-32910435-C-T |
c.1943C>T |
p.Ser648Leu |
Missense |
11/27 |
- |
1 |
13-32910437-C-T |
c.1945C>T |
p.Gln649* |
Nonsense |
11/27 |
- |
1 |
13-32910452-G-A |
c.1960G>A |
p.Glu654Lys |
Missense |
11/27 |
- |
1 |
13-32910454-AA-A |
c.1962del |
p.Glu654Aspfs*6 |
Frameshift |
11/27 |
- |
8 |
13-32910454-A-AA |
c.1962dup |
p.Pro655Thrfs*7 |
Frameshift |
11/27 |
- |
3 |
13-32910456-C-G |
c.1964C>G |
p.Pro655Arg |
Missense |
11/27 |
- |
8 |
13-32910456-CC-C |
c.1964del |
p.Pro655Glnfs*5 |
Frameshift |
11/27 |
- |
4 |
13-32910462-T-A |
c.1970T>A |
p.Leu657* |
Nonsense |
11/27 |
- |
1 |
13-32910467-T-C |
c.1975T>C |
p.Leu659Leu |
Synonymous |
11/27 |
- |
1 |
13-32910481-TT-T |
c.1989del |
p.Phe663Leufs*5 |
Frameshift |
11/27 |
- |
1 |
13-32910483-G-A |
c.1991G>A |
p.Gly664Glu |
Missense |
11/27 |
- |
1 |
13-32910488-A-G |
c.1996A>G |
p.Ile666Val |
Missense |
11/27 |
- |
1 |
13-32910499-A-AA |
c.2007dup |
p.Cys670Metfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32910506-A-G |
c.2014A>G |
p.Arg672Gly |
Missense |
11/27 |
- |
1 |
13-32910515-AA-A |
c.2023del |
p.Thr675Hisfs*7 |
Frameshift |
11/27 |
- |
1 |
13-32910516-ACATGT-A |
c.2024_2028del |
p.Thr675Ilefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32910533-G-T |
c.2041G>T |
p.Val681Leu |
Missense |
11/27 |
- |
1 |
13-32910539-CTCTC-C |
c.2047_2050del |
p.Ser683Argfs*46 |
Frameshift |
11/27 |
- |
1 |
13-32910541-CTC-C |
c.2049_2050del |
p.Gln684Glyfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32910542-C-A |
c.2050C>A |
p.Gln684Lys |
Missense |
11/27 |
- |
1 |
13-32910551-TGATTA-T |
c.2059_2063del |
p.Asp687* |
Frameshift |
11/27 |
- |
2 |
13-32910561-A-G |
c.2069A>G |
p.Glu690Gly |
Missense |
11/27 |
- |
1 |
13-32910563-AG-A |
c.2071del |
p.Ala691Glnfs*39 |
Frameshift |
11/27 |
- |
1 |
13-32910569-T-G |
c.2077T>G |
p.Cys693Gly |
Missense |
11/27 |
- |
1 |
13-32910587-ACA-A |
c.2095_2096del |
p.Gln699Valfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32910587-C-T |
c.2095C>T |
p.Gln699* |
Nonsense |
11/27 |
- |
3 |
13-32910588-A-T |
c.2096A>T |
p.Gln699Leu |
Missense |
11/27 |
- |
1 |
13-32910594-T-G |
c.2102T>G |
p.Phe701Cys |
Missense |
11/27 |
- |
2 |
13-32910597-T-A |
c.2105T>A |
p.Ile702Asn |
Missense |
11/27 |
- |
1 |
13-32910618-T-TA |
c.2126_2127insA |
p.Ser710Valfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32910619-G-C |
c.2127G>C |
p.Leu709Leu |
Synonymous |
11/27 |
- |
1 |
13-32910623-T-A |
c.2131T>A |
p.Cys711Ser |
Missense |
11/27 |
- |
1 |
13-32910624-G-C |
c.2132G>C |
p.Cys711Ser |
Missense |
11/27 |
- |
1 |
13-32910625-C-A |
c.2133C>A |
p.Cys711* |
Nonsense |
11/27 |
- |
1 |
13-32910630-A-T |
c.2138A>T |
p.Gln713Leu |
Missense |
11/27 |
- |
2 |
13-32910635-GG-AC |
c.2143_2144delinsAC |
p.Gly715Thr |
Missense |
11/27 |
- |
1 |
13-32910636-G-C |
c.2144G>C |
p.Gly715Ala |
Missense |
11/27 |
- |
1 |
13-32910639-A-G |
c.2147A>G |
p.Gln716Arg |
Missense |
11/27 |
- |
1 |
13-32910642-G-A |
c.2150G>A |
p.Cys717Tyr |
Missense |
11/27 |
- |
1 |
13-32910643-T-A |
c.2151T>A |
p.Cys717* |
Nonsense |
11/27 |
- |
1 |
13-32910645-A-C |
c.2153A>C |
p.Glu718Ala |
Missense |
11/27 |
- |
1 |
13-32910653-C-A |
c.2161C>A |
p.Pro721Thr |
Missense |
11/27 |
- |
1 |
13-32910656-A-C |
c.2164A>C |
p.Lys722Gln |
Missense |
11/27 |
- |
1 |
13-32910659-AA-A |
c.2167del |
p.Ser723Alafs*7 |
Frameshift |
11/27 |
- |
1 |
13-32910661-C-T |
c.2169C>T |
p.Ser723Ser |
Synonymous |
11/27 |
- |
1 |
13-32910667-A-AA |
c.2175dup |
p.Val726Serfs*25 |
Frameshift |
11/27 |
- |
5 |
13-32910675-A-C |
c.2183A>C |
p.Asp728Ala |
Missense |
11/27 |
- |
1 |
13-32910678-T-C |
c.2186T>C |
p.Ile729Thr |
Missense |
11/27 |
- |
3 |
13-32910680-A-AC |
c.2188_2189insC |
p.Lys730Thrfs*21 |
Frameshift |
11/27 |
- |
2 |
13-32910682-A-AT |
c.2190_2191insT |
p.Glu731* |
Nonsense |
11/27 |
- |
1 |
13-32910685-AAGAGG-A |
c.2193_2197del |
p.Glu731Aspfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32910705-G-A |
c.2213G>A |
p.Cys738Tyr |
Missense |
11/27 |
- |
1 |
13-32910716-C-T |
c.2224C>T |
p.Gln742* |
Nonsense |
11/27 |
- |
8 |
13-32910721-T-C |
c.2229T>C |
p.His743His |
Synonymous |
11/27 |
- |
20 |
13-32910723-C-A |
c.2231C>A |
p.Ser744* |
Nonsense |
11/27 |
- |
1 |
13-32910723-C-G |
c.2231C>G |
p.Ser744* |
Nonsense |
11/27 |
- |
2 |
13-32910725-A-G |
c.2233A>G |
p.Lys745Glu |
Missense |
11/27 |
- |
1 |
13-32910729-T-G |
c.2237T>G |
p.Val746Gly |
Missense |
11/27 |
- |
1 |
13-32910736-ACA-A |
c.2244_2245del |
p.Tyr748* |
Frameshift |
11/27 |
- |
1 |
13-32910743-A-C |
c.2251A>C |
p.Thr751Pro |
Missense |
11/27 |
- |
1 |
13-32910746-TGACT-T |
c.2254_2257del |
p.Asp752Phefs*19 |
Frameshift |
11/27 |
- |
2 |
13-32910751-TT-T |
c.2259del |
p.Gln754Asnfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32910758-C-T |
c.2266C>T |
p.Gln756* |
Nonsense |
11/27 |
- |
2 |
13-32910761-A-T |
c.2269A>T |
p.Lys757* |
Nonsense |
11/27 |
- |
1 |
13-32910766-T-G |
c.2274T>G |
p.Ser758Arg |
Missense |
11/27 |
- |
1 |
13-32910767-TC-T |
c.2275del |
p.Leu759Phefs*13 |
Frameshift |
11/27 |
- |
1 |
13-32910767-C-G |
c.2275C>G |
p.Leu759Val |
Missense |
11/27 |
- |
1 |
13-32910777-A-G |
c.2285A>G |
p.Asp762Gly |
Missense |
11/27 |
- |
1 |
13-32910779-TC-T |
c.2287del |
p.His763Metfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32910788-G-A |
c.2296G>A |
p.Ala766Thr |
Missense |
11/27 |
- |
1 |
13-32910803-T-C |
c.2311T>C |
p.Leu771Leu |
Synonymous |
11/27 |
- |
7 |
13-32910804-T-G |
c.2312T>G |
p.Leu771* |
Nonsense |
11/27 |
- |
1 |
13-32910804-T-A |
c.2312T>A |
p.Leu771* |
Nonsense |
11/27 |
- |
1 |
13-32910805-A-T |
c.2313A>T |
p.Leu771Phe |
Missense |
11/27 |
- |
1 |
13-32910815-TT-T |
c.2323del |
p.Ser775Profs*8 |
Frameshift |
11/27 |
- |
1 |
13-32910815-TC-AA |
c.2323_2324delinsAA |
p.Ser775Asn |
Missense |
11/27 |
- |
1 |
13-32910821-G-A |
c.2329G>A |
p.Asp777Asn |
Missense |
11/27 |
- |
1 |
13-32910822-A-AA |
c.2330dup |
p.Asp777Glufs*11 |
Frameshift |
11/27 |
- |
3 |
13-32910831-C-G |
c.2339C>G |
p.Ser780* |
Nonsense |
11/27 |
- |
4 |
13-32910840-T-C |
c.2348T>C |
p.Val783Ala |
Missense |
11/27 |
- |
1 |
13-32910842-A-G |
c.2350A>G |
p.Met784Val |
Missense |
11/27 |
- |
15 |
13-32910842-ATG-CAT |
c.2350_2352inv |
p.Met784His |
Missense |
11/27 |
- |
1 |
13-32910845-A-G |
c.2353A>G |
p.Ile785Val |
Missense |
11/27 |
- |
1 |
13-32910855-G-A |
c.2363G>A |
p.Gly788Asp |
Missense |
11/27 |
- |
1 |
13-32910859-A-AT |
c.2367_2368insT |
p.Glu790* |
Nonsense |
11/27 |
- |
1 |
13-32910860-AG-A |
c.2368del |
p.Glu790Asnfs*20 |
Frameshift |
11/27 |
- |
1 |
13-32910868-C-A |
c.2376C>A |
p.Tyr792* |
Nonsense |
11/27 |
- |
2 |
13-32910878-G-A |
c.2386G>A |
p.Asp796Asn |
Missense |
11/27 |
- |
1 |
13-32910884-C-T |
c.2392C>T |
p.Leu798Phe |
Missense |
11/27 |
- |
1 |
13-32910888-A-G |
c.2396A>G |
p.Lys799Arg |
Missense |
11/27 |
- |
1 |
13-32910893-A-C |
c.2401A>C |
p.Asn801His |
Missense |
11/27 |
- |
1 |
13-32910894-AACAATTATGAA-A |
c.2402_2412del |
p.Asn801Ilefs*2 |
Frameshift |
11/27 |
- |
2 |
13-32910902-G-C |
c.2410G>C |
p.Glu804Gln |
Missense |
11/27 |
- |
1 |
13-32910902-G-A |
c.2410G>A |
p.Glu804Lys |
Missense |
11/27 |
- |
1 |
13-32910904-A-G |
c.2412A>G |
p.Glu804Glu |
Synonymous |
11/27 |
- |
1 |
13-32910908-G-C |
c.2416G>C |
p.Asp806His |
Missense |
11/27 |
- |
3 |
13-32910918-T-G |
c.2426T>G |
p.Leu809* |
Nonsense |
11/27 |
- |
1 |
13-32910922-CC-C |
c.2430del |
p.Asn812Ilefs*13 |
Frameshift |
11/27 |
- |
1 |
13-32910927-AA-A |
c.2435del |
p.Asn812Ilefs*13 |
Frameshift |
11/27 |
- |
1 |
13-32910934-CC-C |
c.2442del |
p.Met815Trpfs*10 |
Frameshift |
11/27 |
- |
5 |
13-32910946-T-A |
c.2454T>A |
p.Asn818Lys |
Missense |
11/27 |
- |
1 |
13-32910948-A-G |
c.2456A>G |
p.Gln819Arg |
Missense |
11/27 |
- |
1 |
13-32910951-A-G |
c.2459A>G |
p.Asp820Gly |
Missense |
11/27 |
- |
2 |
13-32910963-T-G |
c.2471T>G |
p.Leu824* |
Nonsense |
11/27 |
- |
2 |
13-32910963-TTAAATG-T |
c.2471_2476del |
p.Leu824_Glu826delins* |
MultiAAMissense |
11/27 |
- |
1 |
13-32910980-A-G |
c.2488A>G |
p.Asn830Asp |
Missense |
11/27 |
- |
1 |
13-32910983-G-A |
c.2491G>A |
p.Val831Ile |
Missense |
11/27 |
- |
1 |
13-32910985-T-TT |
c.2493dup |
p.Glu832* |
Nonsense |
11/27 |
- |
1 |
13-32910986-G-T |
c.2494G>T |
p.Glu832* |
Nonsense |
11/27 |
- |
1 |
13-32910987-A-G |
c.2495A>G |
p.Glu832Gly |
Missense |
11/27 |
- |
1 |
13-32910995-C-T |
c.2503C>T |
p.Pro835Ser |
Missense |
11/27 |
- |
1 |
13-32910997-A-AA |
c.2505dup |
p.Pro836Thrfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32911002-A-G |
c.2510A>G |
p.Glu837Gly |
Missense |
11/27 |
- |
1 |
13-32911013-AGA-CAT |
c.2521_2523delinsCAT |
p.Arg841His |
Missense |
11/27 |
- |
1 |
13-32911013-AGA-TGG |
c.2521_2523delinsTGG |
p.Arg841Trp |
Missense |
11/27 |
- |
1 |
13-32911030-A-C |
c.2538A>C |
p.Ser846Ser |
Synonymous |
11/27 |
- |
1 |
13-32911031-AGA-CAT |
c.2539_2541delinsCAT |
p.Arg847His |
Missense |
11/27 |
- |
1 |
13-32911034-A-C |
c.2542A>C |
p.Lys848Gln |
Missense |
11/27 |
- |
1 |
13-32911038-T-C |
c.2546T>C |
p.Val849Ala |
Missense |
11/27 |
- |
1 |
13-32911040-C-CCC |
c.2548_2549insCC |
p.Gln850Profs*9 |
Frameshift |
11/27 |
- |
2 |
13-32911053-A-AA |
c.2561dup |
p.Asn854Lysfs*27 |
Frameshift |
11/27 |
- |
1 |
13-32911056-ACA-A |
c.2564_2565del |
p.Thr855Lysfs*25 |
Frameshift |
11/27 |
- |
1 |
13-32911058-A-T |
c.2566A>T |
p.Asn856Tyr |
Missense |
11/27 |
- |
1 |
13-32911060-T-G |
c.2568T>G |
p.Asn856Lys |
Missense |
11/27 |
- |
1 |
13-32911065-G-T |
c.2573G>T |
p.Arg858Ile |
Missense |
11/27 |
- |
1 |
13-32911066-A-AA |
c.2574dup |
p.Val859Serfs*22 |
Frameshift |
11/27 |
- |
1 |
13-32911067-GT-TC |
c.2575_2576delinsTC |
p.Val859Ser |
Missense |
11/27 |
- |
1 |
13-32911070-AA-A |
c.2578del |
p.Ile860Serfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32911076-A-G |
c.2584A>G |
p.Lys862Glu |
Missense |
11/27 |
- |
1 |
13-32911079-AA-GC |
c.2587_2588delinsGC |
p.Asn863Ala |
Missense |
11/27 |
- |
1 |
13-32911080-A-AA |
c.2588dup |
p.Asn863Lysfs*18 |
Frameshift |
11/27 |
- |
4 |
13-32911081-AT-A |
c.2589del |
p.Gln864Lysfs*10 |
Frameshift |
11/27 |
- |
2 |
13-32911081-T-A |
c.2589T>A |
p.Asn863Lys |
Missense |
11/27 |
- |
1 |
13-32911081-T-G |
c.2589T>G |
p.Asn863Lys |
Missense |
11/27 |
- |
1 |
13-32911082-C-T |
c.2590C>T |
p.Gln864* |
Nonsense |
11/27 |
- |
1 |
13-32911087-AA-A |
c.2595del |
p.Glu866Lysfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32911094-A-G |
c.2602A>G |
p.Thr868Ala |
Missense |
11/27 |
- |
1 |
13-32911098-C-T |
c.2606C>T |
p.Ser869Leu |
Missense |
11/27 |
- |
2 |
13-32911103-TT-T |
c.2611del |
p.Ser871Glnfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911104-C-T |
c.2612C>T |
p.Ser871Leu |
Missense |
11/27 |
- |
5 |
13-32911104-C-A |
c.2612C>A |
p.Ser871* |
Nonsense |
11/27 |
- |
1 |
13-32911104-C-G |
c.2612C>G |
p.Ser871* |
Nonsense |
11/27 |
- |
1 |
13-32911111-A-C |
c.2619A>C |
p.Ile873Ile |
Synonymous |
11/27 |
- |
1 |
13-32911111-A-T |
c.2619A>T |
p.Ile873Ile |
Synonymous |
11/27 |
- |
1 |
13-32911112-A-G |
c.2620A>G |
p.Thr874Ala |
Missense |
11/27 |
- |
1 |
13-32911118-CAA-C |
c.2626_2627del |
p.Asn876Serfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911119-AA-A |
c.2627del |
p.Asn876Ilefs*19 |
Frameshift |
11/27 |
- |
1 |
13-32911124-G-A |
c.2632G>A |
p.Asp878Asn |
Missense |
11/27 |
- |
1 |
13-32911127-T-C |
c.2635T>C |
p.Ser879Pro |
Missense |
11/27 |
- |
1 |
13-32911128-TCT-T |
c.2636_2637del |
p.Ser879* |
Frameshift |
11/27 |
- |
3 |
13-32911133-G-T |
c.2641G>T |
p.Glu881* |
Nonsense |
11/27 |
- |
2 |
13-32911143-C-G |
c.2651C>G |
p.Ser884* |
Nonsense |
11/27 |
- |
1 |
13-32911145-AGACA-A |
c.2653_2656del |
p.Asp885Metfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32911149-A-T |
c.2657A>T |
p.Asn886Ile |
Missense |
11/27 |
- |
1 |
13-32911164-T-TT |
c.2672dup |
p.Phe892Leufs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911168-TCCAA-T |
c.2676_2679del |
p.Phe892Leufs*2 |
Frameshift |
11/27 |
- |
1 |
13-32911170-A-G |
c.2678A>G |
p.Gln893Arg |
Missense |
11/27 |
- |
1 |
13-32911172-G-A |
c.2680G>A |
p.Val894Ile |
Missense |
11/27 |
- |
2 |
13-32911175-G-A |
c.2683G>A |
p.Ala895Thr |
Missense |
11/27 |
- |
1 |
13-32911176-GC-G |
c.2684del |
p.Ala895Valfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32911179-AA-A |
c.2687del |
p.Asn896Metfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32911184-A-G |
c.2692A>G |
p.Arg898Gly |
Missense |
11/27 |
- |
1 |
13-32911186-G-GG |
c.2694dup |
p.Asn899Glufs*2 |
Frameshift |
11/27 |
- |
1 |
13-32911193-TC-T |
c.2701del |
p.Ala902Leufs*2 |
Frameshift |
11/27 |
- |
4 |
13-32911193-C-A |
c.2701C>A |
p.Leu901Ile |
Missense |
11/27 |
- |
1 |
13-32911208-A-G |
c.2716A>G |
p.Thr906Ala |
Missense |
11/27 |
- |
1 |
13-32911214-G-T |
c.2722G>T |
p.Glu908* |
Nonsense |
11/27 |
- |
2 |
13-32911220-C-T |
c.2728C>T |
p.His910Tyr |
Missense |
11/27 |
- |
1 |
13-32911221-A-G |
c.2729A>G |
p.His910Arg |
Missense |
11/27 |
- |
1 |
13-32911222-T-C |
c.2730T>C |
p.His910His |
Synonymous |
11/27 |
- |
1 |
13-32911223-TG-T |
c.2731del |
p.Glu911Lysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911226-A-AA |
c.2734dup |
p.Thr912Asnfs*24 |
Frameshift |
11/27 |
- |
1 |
13-32911231-C-T |
c.2739C>T |
p.Asp913Asp |
Synonymous |
11/27 |
- |
1 |
13-32911238-TG-AC |
c.2746_2747delinsAC |
p.Cys916Thr |
Missense |
11/27 |
- |
1 |
13-32911246-AC-A |
c.2754del |
p.Asn918Lysfs*42 |
Frameshift |
11/27 |
- |
1 |
13-32911247-G-A |
c.2755G>A |
p.Glu919Lys |
Missense |
11/27 |
- |
1 |
13-32911250-C-T |
c.2758C>T |
p.Pro920Ser |
Missense |
11/27 |
- |
1 |
13-32911267-T-TT |
c.2775dup |
p.Thr926Tyrfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32911271-A-G |
c.2779A>G |
p.Met927Val |
Missense |
11/27 |
- |
2 |
13-32911273-G-A |
c.2781G>A |
p.Met927Ile |
Missense |
11/27 |
- |
1 |
13-32911273-G-T |
c.2781G>T |
p.Met927Ile |
Missense |
11/27 |
- |
1 |
13-32911273-G-C |
c.2781G>C |
p.Met927Ile |
Missense |
11/27 |
- |
1 |
13-32911278-T-TT |
c.2786dup |
p.Leu929Phefs*7 |
Frameshift |
11/27 |
- |
2 |
13-32911278-T-C |
c.2786T>C |
p.Leu929Ser |
Missense |
11/27 |
- |
6 |
13-32911278-TT-T |
c.2786del |
p.Leu929Tyrfs*31 |
Frameshift |
11/27 |
- |
1 |
13-32911286-G-A |
c.2794G>A |
p.Asp932Asn |
Missense |
11/27 |
- |
1 |
13-32911290-AC-A |
c.2798del |
p.Thr933Lysfs*27 |
Frameshift |
11/27 |
- |
1 |
13-32911290-ACA-A |
c.2798_2799del |
p.Thr933Argfs*2 |
Frameshift |
11/27 |
- |
8 |
13-32911295-G-C |
c.2803G>C |
p.Asp935His |
Missense |
11/27 |
- |
1 |
13-32911295-G-A |
c.2803G>A |
p.Asp935Asn |
Missense |
11/27 |
- |
10 |
13-32911297-T-TT |
c.2805dup |
p.Lys936* |
Nonsense |
11/27 |
- |
5 |
13-32911300-AACAA-A |
c.2808_2811del |
p.Ala938Profs*21 |
Frameshift |
11/27 |
- |
72 |
13-32911300-AA-A |
c.2808del |
p.Lys936Asnfs*24 |
Frameshift |
11/27 |
- |
7 |
13-32911301-C-A |
c.2809C>A |
p.Gln937Lys |
Missense |
11/27 |
- |
1 |
13-32911301-AC-A |
c.2809del |
p.Gln937Lysfs*23 |
Frameshift |
11/27 |
- |
1 |
13-32911309-C-T |
c.2817C>T |
p.Thr939Thr |
Synonymous |
11/27 |
- |
1 |
13-32911311-A-G |
c.2819A>G |
p.Gln940Arg |
Missense |
11/27 |
- |
1 |
13-32911312-AA-A |
c.2820del |
p.Val941Cysfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32911313-G-A |
c.2821G>A |
p.Val941Met |
Missense |
11/27 |
- |
1 |
13-32911316-GT-G |
c.2824del |
p.Ser942Glnfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32911320-ATTAA-A |
c.2828_2831del |
p.Ile943Lysfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32911322-A-T |
c.2830A>T |
p.Lys944* |
Nonsense |
11/27 |
- |
18 |
13-32911327-AA-A |
c.2835del |
p.Asp946Ilefs*14 |
Frameshift |
11/27 |
- |
1 |
13-32911329-A-G |
c.2837A>G |
p.Asp946Gly |
Missense |
11/27 |
- |
1 |
13-32911334-G-A |
c.2842G>A |
p.Val948Ile |
Missense |
11/27 |
- |
1 |
13-32911337-TT-T |
c.2845del |
p.Tyr949Metfs*11 |
Frameshift |
11/27 |
- |
3 |
13-32911338-A-AA |
c.2846dup |
p.Tyr949* |
Nonsense |
11/27 |
- |
1 |
13-32911340-G-A |
c.2848G>A |
p.Val950Ile |
Missense |
11/27 |
- |
2 |
13-32911340-G-C |
c.2848G>C |
p.Val950Leu |
Missense |
11/27 |
- |
1 |
13-32911343-C-A |
c.2851C>A |
p.Leu951Ile |
Missense |
11/27 |
- |
1 |
13-32911346-GCA-ATG |
c.2854_2856delinsATG |
p.Ala952Met |
Missense |
11/27 |
- |
1 |
13-32911349-G-T |
c.2857G>T |
p.Glu953* |
Nonsense |
11/27 |
- |
1 |
13-32911352-G-T |
c.2860G>T |
p.Glu954* |
Nonsense |
11/27 |
- |
1 |
13-32911357-AC-A |
c.2865del |
p.Asn955Lysfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911359-A-C |
c.2867A>C |
p.Lys956Thr |
Missense |
11/27 |
- |
1 |
13-32911360-A-AT |
c.2868_2869insT |
p.Asn957* |
Nonsense |
11/27 |
- |
1 |
13-32911375-G-A |
c.2883G>A |
p.Gln961Gln |
Synonymous |
11/27 |
- |
3 |
13-32911384-A-T |
c.2892A>T |
p.Lys964Asn |
Missense |
11/27 |
- |
1 |
13-32911387-G-C |
c.2895G>C |
p.Met965Ile |
Missense |
11/27 |
- |
1 |
13-32911387-G-T |
c.2895G>T |
p.Met965Ile |
Missense |
11/27 |
- |
1 |
13-32911387-G-A |
c.2895G>A |
p.Met965Ile |
Missense |
11/27 |
- |
1 |
13-32911391-TCT-T |
c.2899_2900del |
p.Leu967Argfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32911393-A-ACT |
c.2901_2902insCT |
p.Gly968Leufs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911397-C-T |
c.2905C>T |
p.Gln969* |
Nonsense |
11/27 |
- |
4 |
13-32911404-T-C |
c.2912T>C |
p.Leu971Ser |
Missense |
11/27 |
- |
1 |
13-32911410-C-A |
c.2918C>A |
p.Ser973* |
Nonsense |
11/27 |
- |
1 |
13-32911411-G-A |
c.2919G>A |
p.Ser973Ser |
Synonymous |
11/27 |
- |
1 |
13-32911416-T-G |
c.2924T>G |
p.Ile975Ser |
Missense |
11/27 |
- |
1 |
13-32911418-TC-AT |
c.2926_2927delinsAT |
p.Ser976Ile |
Missense |
11/27 |
- |
2 |
13-32911420-CC-C |
c.2928del |
p.Leu977* |
Frameshift |
11/27 |
- |
1 |
13-32911426-T-G |
c.2934T>G |
p.Asn978Lys |
Missense |
11/27 |
- |
1 |
13-32911429-TA-T |
c.2937del |
p.Ile979Metfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32911436-A-C |
c.2944A>C |
p.Ile982Leu |
Missense |
11/27 |
- |
3 |
13-32911436-AA-A |
c.2944del |
p.Ile982Tyrfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32911437-ATA-A |
c.2945_2946del |
p.Ile982Thrfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911442-G-T |
c.2950G>T |
p.Glu984* |
Nonsense |
11/27 |
- |
1 |
13-32911449-AA-A |
c.2957del |
p.Asn986Ilefs*5 |
Frameshift |
11/27 |
- |
2 |
13-32911449-A-AA |
c.2957dup |
p.Asn986Lysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32911449-A-AG |
c.2957_2958insG |
p.Asn986Lysfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32911452-A-T |
c.2960A>T |
p.Asn987Ile |
Missense |
11/27 |
- |
4 |
13-32911463-A-G |
c.2971A>G |
p.Asn991Asp |
Missense |
11/27 |
- |
64 |
13-32911464-A-G |
c.2972A>G |
p.Asn991Ser |
Missense |
11/27 |
- |
1 |
13-32911481-T-TAA |
c.2989_2990insAA |
p.Leu997* |
Nonsense |
11/27 |
- |
1 |
13-32911482-T-G |
c.2990T>G |
p.Leu997* |
Nonsense |
11/27 |
- |
2 |
13-32911485-G-A |
c.2993G>A |
p.Gly998Asp |
Missense |
11/27 |
- |
2 |
13-32911494-C-G |
c.3002C>G |
p.Ser1001* |
Nonsense |
11/27 |
- |
1 |
13-32911494-C-A |
c.3002C>A |
p.Ser1001* |
Nonsense |
11/27 |
- |
1 |
13-32911499-C-G |
c.3007C>G |
p.His1003Asp |
Missense |
11/27 |
- |
1 |
13-32911503-G-A |
c.3011G>A |
p.Ser1004Asn |
Missense |
11/27 |
- |
1 |
13-32911507-TT-T |
c.3015del |
p.Phe1005Leufs*38 |
Frameshift |
11/27 |
- |
1 |
13-32911509-GGAGG-G |
c.3017_3020del |
p.Gly1006Valfs*36 |
Frameshift |
11/27 |
- |
1 |
13-32911510-GA-G |
c.3018del |
p.Gly1007Valfs*36 |
Frameshift |
11/27 |
- |
2 |
13-32911514-AG-GC |
c.3022_3023delinsGC |
p.Ser1008Ala |
Missense |
11/27 |
- |
1 |
13-32911521-G-A |
c.3029G>A |
p.Arg1010Lys |
Missense |
11/27 |
- |
1 |
13-32911523-A-G |
c.3031A>G |
p.Thr1011Ala |
Missense |
11/27 |
- |
1 |
13-32911524-C-G |
c.3032C>G |
p.Thr1011Arg |
Missense |
11/27 |
- |
5 |
13-32911526-AG-A |
c.3034del |
p.Ala1012Leufs*31 |
Frameshift |
11/27 |
- |
3 |
13-32911528-CTTCA-C |
c.3036_3039del |
p.Ser1013Ilefs*29 |
Frameshift |
11/27 |
- |
1 |
13-32911533-AATAA-A |
c.3041_3044del |
p.Asn1014Argfs*28 |
Frameshift |
11/27 |
- |
1 |
13-32911533-A-G |
c.3041A>G |
p.Asn1014Ser |
Missense |
11/27 |
- |
1 |
13-32911538-G-T |
c.3046G>T |
p.Glu1016* |
Nonsense |
11/27 |
- |
1 |
13-32911542-T-G |
c.3050T>G |
p.Ile1017Ser |
Missense |
11/27 |
- |
1 |
13-32911542-T-C |
c.3050T>C |
p.Ile1017Thr |
Missense |
11/27 |
- |
1 |
13-32911547-C-G |
c.3055C>G |
p.Leu1019Val |
Missense |
11/27 |
- |
4 |
13-32911548-T-C |
c.3056T>C |
p.Leu1019Pro |
Missense |
11/27 |
- |
1 |
13-32911560-A-AA |
c.3068dup |
p.Asn1023Lysfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32911561-ACATTAA-A |
c.3069_3074del |
p.Asn1023_Ile1024del |
InFrameDeletion |
11/27 |
- |
1 |
13-32911567-GA-TT |
c.3075_3076delinsTT |
p.Lys1025_Lys1026delinsAsn* |
MultiAAMissense |
11/27 |
- |
1 |
13-32911567-G-T |
c.3075G>T |
p.Lys1025Asn |
Missense |
11/27 |
- |
1 |
13-32911568-A-T |
c.3076A>T |
p.Lys1026* |
Nonsense |
11/27 |
- |
2 |
13-32911578-AT-A |
c.3086del |
p.Met1029Serfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32911580-T-G |
c.3088T>G |
p.Phe1030Val |
Missense |
11/27 |
- |
1 |
13-32911587-A-T |
c.3095A>T |
p.Lys1032Ile |
Missense |
11/27 |
- |
1 |
13-32911588-AAGATATTGAAGAACAA-A |
c.3096_3111del |
p.Lys1032Asnfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32911595-G-T |
c.3103G>T |
p.Glu1035* |
Nonsense |
11/27 |
- |
1 |
13-32911596-A-G |
c.3104A>G |
p.Glu1035Gly |
Missense |
11/27 |
- |
1 |
13-32911601-C-T |
c.3109C>T |
p.Gln1037* |
Nonsense |
11/27 |
- |
35 |
13-32911605-A-G |
c.3113A>G |
p.Tyr1038Cys |
Missense |
11/27 |
- |
5 |
13-32911606-T-A |
c.3114T>A |
p.Tyr1038* |
Nonsense |
11/27 |
- |
1 |
13-32911606-T-G |
c.3114T>G |
p.Tyr1038* |
Nonsense |
11/27 |
- |
1 |
13-32911617-T-G |
c.3125T>G |
p.Leu1042* |
Nonsense |
11/27 |
- |
1 |
13-32911617-T-A |
c.3125T>A |
p.Leu1042* |
Nonsense |
11/27 |
- |
1 |
13-32911620-C-G |
c.3128C>G |
p.Ala1043Gly |
Missense |
11/27 |
- |
1 |
13-32911623-G-T |
c.3131G>T |
p.Cys1044Phe |
Missense |
11/27 |
- |
1 |
13-32911633-T-G |
c.3141T>G |
p.Ile1047Met |
Missense |
11/27 |
- |
1 |
13-32911650-T-G |
c.3158T>G |
p.Leu1053* |
Nonsense |
11/27 |
- |
7 |
13-32911654-T-TT |
c.3162dup |
p.Asn1055* |
Nonsense |
11/27 |
- |
1 |
13-32911657-ATCAA-A |
c.3165_3168del |
p.Asn1055Lysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911658-C-T |
c.3166C>T |
p.Gln1056* |
Nonsense |
11/27 |
- |
3 |
13-32911659-CAAAA-C |
c.3167_3170del |
p.Gln1056Argfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911662-AAGAAA-A |
c.3170_3174del |
p.Lys1057Thrfs*8 |
Frameshift |
11/27 |
- |
8 |
13-32911662-A-G |
c.3170A>G |
p.Lys1057Arg |
Missense |
11/27 |
- |
1 |
13-32911663-G-A |
c.3171G>A |
p.Lys1057Lys |
Synonymous |
11/27 |
- |
1 |
13-32911665-A-G |
c.3173A>G |
p.Lys1058Arg |
Missense |
11/27 |
- |
1 |
13-32911667-CT-TA |
c.3175_3176delinsTA |
p.Leu1059* |
Nonsense |
11/27 |
- |
1 |
13-32911674-AA-A |
c.3182del |
p.Lys1061Serfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32911676-C-T |
c.3184C>T |
p.Pro1062Ser |
Missense |
11/27 |
- |
1 |
13-32911679-C-A |
c.3187C>A |
p.Gln1063Lys |
Missense |
11/27 |
- |
1 |
13-32911681-AGTCA-A |
c.3189_3192del |
p.Ser1064Leufs*12 |
Frameshift |
11/27 |
- |
3 |
13-32911687-TTAAT-T |
c.3195_3198del |
p.Asn1066Leufs*10 |
Frameshift |
11/27 |
- |
12 |
13-32911689-A-AA |
c.3197dup |
p.Asn1066Lysfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32911691-TA-T |
c.3199del |
p.Thr1067Leufs*10 |
Frameshift |
11/27 |
- |
1 |
13-32911694-TG-T |
c.3202del |
p.Val1068Tyrfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32911698-C-T |
c.3206C>T |
p.Ser1069Phe |
Missense |
11/27 |
- |
1 |
13-32911703-C-T |
c.3211C>T |
p.His1071Tyr |
Missense |
11/27 |
- |
1 |
13-32911710-A-G |
c.3218A>G |
p.Gln1073Arg |
Missense |
11/27 |
- |
3 |
13-32911712-A-T |
c.3220A>T |
p.Ser1074Cys |
Missense |
11/27 |
- |
1 |
13-32911720-TAG-T |
c.3228_3229del |
p.Val1077Cysfs*3 |
Frameshift |
11/27 |
- |
5 |
13-32911727-TT-T |
c.3235del |
p.Ser1079Leufs*8 |
Frameshift |
11/27 |
- |
1 |
13-32911731-A-C |
c.3239A>C |
p.Asp1080Ala |
Missense |
11/27 |
- |
1 |
13-32911739-A-G |
c.3247A>G |
p.Asn1083Asp |
Missense |
11/27 |
- |
1 |
13-32911748-A-T |
c.3256A>T |
p.Ile1086Leu |
Missense |
11/27 |
- |
1 |
13-32911748-A-G |
c.3256A>G |
p.Ile1086Val |
Missense |
11/27 |
- |
1 |
13-32911749-ATA-A |
c.3257_3258del |
p.Ile1086Asnfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32911754-C-T |
c.3262C>T |
p.Pro1088Ser |
Missense |
11/27 |
- |
2 |
13-32911755-C-CC |
c.3263dup |
p.Gln1089Serfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32911756-T-C |
c.3264T>C |
p.Pro1088Pro |
Synonymous |
11/27 |
- |
2 |
13-32911756-T-TT |
c.3264dup |
p.Gln1089Serfs*10 |
Frameshift |
11/27 |
- |
11 |
13-32911757-C-T |
c.3265C>T |
p.Gln1089* |
Nonsense |
11/27 |
- |
4 |
13-32911758-CA-C |
c.3266del |
p.Gln1089Argfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32911761-AT-A |
c.3269del |
p.Met1090Serfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32911778-GG-G |
c.3286del |
p.Asp1096Ilefs*8 |
Frameshift |
11/27 |
- |
2 |
13-32911788-C-A |
c.3296C>A |
p.Ser1099* |
Nonsense |
11/27 |
- |
2 |
13-32911788-C-G |
c.3296C>G |
p.Ser1099* |
Nonsense |
11/27 |
- |
2 |
13-32911790-AAAC-A |
c.3298_3300del |
p.Asn1100del |
InFrameDeletion |
11/27 |
- |
1 |
13-32911791-A-C |
c.3299A>C |
p.Asn1100Thr |
Missense |
11/27 |
- |
1 |
13-32911794-A-G |
c.3302A>G |
p.His1101Arg |
Missense |
11/27 |
- |
1 |
13-32911796-A-T |
c.3304A>T |
p.Asn1102Tyr |
Missense |
11/27 |
- |
3 |
13-32911802-A-AA |
c.3310dup |
p.Thr1104Asnfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911808-A-G |
c.3316A>G |
p.Ser1106Gly |
Missense |
11/27 |
- |
1 |
13-32911810-C-G |
c.3318C>G |
p.Ser1106Arg |
Missense |
11/27 |
- |
2 |
13-32911810-C-A |
c.3318C>A |
p.Ser1106Arg |
Missense |
11/27 |
- |
1 |
13-32911811-C-T |
c.3319C>T |
p.Gln1107* |
Nonsense |
11/27 |
- |
1 |
13-32911813-A-C |
c.3321A>C |
p.Gln1107His |
Missense |
11/27 |
- |
1 |
13-32911814-A-T |
c.3322A>T |
p.Lys1108* |
Nonsense |
11/27 |
- |
1 |
13-32911818-C-T |
c.3326C>T |
p.Ala1109Val |
Missense |
11/27 |
- |
1 |
13-32911820-G-A |
c.3328G>A |
p.Glu1110Lys |
Missense |
11/27 |
- |
1 |
13-32911821-A-T |
c.3329A>T |
p.Glu1110Val |
Missense |
11/27 |
- |
1 |
13-32911829-G-T |
c.3337G>T |
p.Glu1113* |
Nonsense |
11/27 |
- |
1 |
13-32911835-TT-T |
c.3343del |
p.Ser1115Leufs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911837-CT-C |
c.3345del |
p.Thr1116Leufs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911841-A-G |
c.3349A>G |
p.Ile1117Val |
Missense |
11/27 |
- |
2 |
13-32911845-T-A |
c.3353T>A |
p.Leu1118* |
Nonsense |
11/27 |
- |
1 |
13-32911845-T-G |
c.3353T>G |
p.Leu1118* |
Nonsense |
11/27 |
- |
1 |
13-32911854-C-G |
c.3362C>G |
p.Ser1121* |
Nonsense |
11/27 |
- |
2 |
13-32911854-C-A |
c.3362C>A |
p.Ser1121* |
Nonsense |
11/27 |
- |
2 |
13-32911857-GG-G |
c.3365del |
p.Gly1122Glufs*28 |
Frameshift |
11/27 |
- |
1 |
13-32911862-C-G |
c.3370C>G |
p.Gln1124Glu |
Missense |
11/27 |
- |
1 |
13-32911868-G-A |
c.3376G>A |
p.Glu1126Lys |
Missense |
11/27 |
- |
1 |
13-32911873-TT-T |
c.3381del |
p.Phe1127Leufs*23 |
Frameshift |
11/27 |
- |
8 |
13-32911877-C-T |
c.3385C>T |
p.Gln1129* |
Nonsense |
11/27 |
- |
1 |
13-32911887-A-G |
c.3395A>G |
p.Lys1132Arg |
Missense |
11/27 |
- |
1 |
13-32911888-A-C |
c.3396A>C |
p.Lys1132Asn |
Missense |
11/27 |
- |
15 |
13-32911888-A-G |
c.3396A>G |
p.Lys1132Lys |
Synonymous |
11/27 |
- |
45 |
13-32911890-CC-C |
c.3398del |
p.Pro1133Glnfs*17 |
Frameshift |
11/27 |
- |
1 |
13-32911897-C-A |
c.3405C>A |
p.Tyr1135* |
Nonsense |
11/27 |
- |
1 |
13-32911900-A-AA |
c.3408dup |
p.Leu1137Ilefs*7 |
Frameshift |
11/27 |
- |
2 |
13-32911906-G-A |
c.3414G>A |
p.Gln1138Gln |
Synonymous |
11/27 |
- |
1 |
13-32911910-A-G |
c.3418A>G |
p.Ser1140Gly |
Missense |
11/27 |
- |
1 |
13-32911912-T-TT |
c.3420dup |
p.Thr1141Tyrfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911912-T-C |
c.3420T>C |
p.Ser1140Ser |
Synonymous |
11/27 |
- |
1 |
13-32911917-T-C |
c.3425T>C |
p.Phe1142Ser |
Missense |
11/27 |
- |
1 |
13-32911935-A-G |
c.3443A>G |
p.Gln1148Arg |
Missense |
11/27 |
- |
1 |
13-32911937-A-G |
c.3445A>G |
p.Met1149Val |
Missense |
11/27 |
- |
6 |
13-32911940-A-T |
c.3448A>T |
p.Thr1150Ser |
Missense |
11/27 |
- |
1 |
13-32911947-T-G |
c.3455T>G |
p.Leu1152* |
Nonsense |
11/27 |
- |
1 |
13-32911953-C-G |
c.3461C>G |
p.Thr1154Ser |
Missense |
11/27 |
- |
1 |
13-32911952-A-T |
c.3460A>T |
p.Thr1154Ser |
Missense |
11/27 |
- |
1 |
13-32911954-C-T |
c.3462C>T |
p.Thr1154Thr |
Synonymous |
11/27 |
- |
2 |
13-32911954-C-G |
c.3462C>G |
p.Thr1154Thr |
Synonymous |
11/27 |
- |
2 |
13-32911971-G-A |
c.3479G>A |
p.Arg1160Lys |
Missense |
11/27 |
- |
3 |
13-32911973-AGATGCTGATCT-A |
c.3481_3491del |
p.Asp1161Serfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32911979-TGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATT-T |
c.3487_3545del |
p.Asp1163* |
Frameshift |
11/27 |
- |
1 |
13-32911979-TG-T |
c.3487del |
p.Asp1163Ilefs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911984-T-TT |
c.3492dup |
p.His1165Serfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32911991-A-G |
c.3499A>G |
p.Ile1167Val |
Missense |
11/27 |
- |
1 |
13-32911996-G-T |
c.3504G>T |
p.Met1168Ile |
Missense |
11/27 |
- |
2 |
13-32912000-G-C |
c.3508G>C |
p.Ala1170Pro |
Missense |
11/27 |
- |
1 |
13-32912001-C-T |
c.3509C>T |
p.Ala1170Val |
Missense |
11/27 |
- |
3 |
13-32912007-C-G |
c.3515C>G |
p.Ser1172Trp |
Missense |
11/27 |
- |
1 |
13-32912007-C-T |
c.3515C>T |
p.Ser1172Leu |
Missense |
11/27 |
- |
8 |
13-32912008-G-C |
c.3516G>C |
p.Ser1172Ser |
Synonymous |
11/27 |
- |
1 |
13-32912008-G-T |
c.3516G>T |
p.Ser1172Ser |
Synonymous |
11/27 |
- |
1 |
13-32912008-G-A |
c.3516G>A |
p.Ser1172Ser |
Synonymous |
11/27 |
- |
2 |
13-32912011-T-G |
c.3519T>G |
p.Ile1173Met |
Missense |
11/27 |
- |
1 |
13-32912030-A-C |
c.3538A>C |
p.Lys1180Gln |
Missense |
11/27 |
- |
1 |
13-32912033-C-T |
c.3541C>T |
p.Gln1181* |
Nonsense |
11/27 |
- |
1 |
13-32912037-TTT-T |
c.3545_3546del |
p.Phe1182* |
Frameshift |
11/27 |
- |
7 |
13-32912039-G-C |
c.3547G>C |
p.Glu1183Gln |
Missense |
11/27 |
- |
1 |
13-32912040-A-G |
c.3548A>G |
p.Glu1183Gly |
Missense |
11/27 |
- |
7 |
13-32912043-G-C |
c.3551G>C |
p.Gly1184Ala |
Missense |
11/27 |
- |
1 |
13-32912050-T-A |
c.3558T>A |
p.Val1186Val |
Synonymous |
11/27 |
- |
1 |
13-32912051-G-T |
c.3559G>T |
p.Glu1187* |
Nonsense |
11/27 |
- |
1 |
13-32912054-A-G |
c.3562A>G |
p.Ile1188Val |
Missense |
11/27 |
- |
1 |
13-32912060-C-T |
c.3568C>T |
p.Arg1190Trp |
Missense |
11/27 |
- |
5 |
13-32912061-G-A |
c.3569G>A |
p.Arg1190Gln |
Missense |
11/27 |
- |
1 |
13-32912067-T-G |
c.3575T>G |
p.Phe1192Cys |
Missense |
11/27 |
- |
2 |
13-32912073-G-A |
c.3581G>A |
p.Gly1194Asp |
Missense |
11/27 |
- |
3 |
13-32912075-CC-C |
c.3583del |
p.Leu1195Cysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912079-T-A |
c.3587T>A |
p.Leu1196* |
Nonsense |
11/27 |
- |
1 |
13-32912088-GACTG-G |
c.3596_3599del |
p.Asp1199Valfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912090-T-TAAT |
c.3598_3599insAAT |
p.Asp1199_Cys1200ins* |
InFrameInsertion |
11/27 |
- |
1 |
13-32912090-T-TA |
c.3598_3599insA |
p.Cys1200* |
Nonsense |
11/27 |
- |
2 |
13-32912091-TGT-T |
c.3599_3600del |
p.Cys1200* |
Frameshift |
11/27 |
- |
11 |
13-32912092-T-A |
c.3600T>A |
p.Cys1200* |
Nonsense |
11/27 |
- |
1 |
13-32912095-C-CT |
c.3603_3604insT |
p.Lys1202* |
Nonsense |
11/27 |
- |
1 |
13-32912098-AAA-A |
c.3606_3607del |
p.Ser1203Cysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32912116-A-G |
c.3624A>G |
p.Leu1208Leu |
Synonymous |
11/27 |
- |
1 |
13-32912119-A-AA |
c.3627dup |
p.Asp1210Argfs*2 |
Frameshift |
11/27 |
- |
5 |
13-32912120-AGA-A |
c.3628_3629del |
p.Asp1210* |
Frameshift |
11/27 |
- |
1 |
13-32912131-AAGTGGGGTTTAGGG-A |
c.3639_3652del |
p.Val1214Leufs*14 |
Frameshift |
11/27 |
- |
1 |
13-32912132-G-T |
c.3640G>T |
p.Val1214Leu |
Missense |
11/27 |
- |
1 |
13-32912137-GT-TAAAAAG |
c.3645_3646delinsTAAAAAG |
p.Phe1216Lysfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32912149-T-A |
c.3657T>A |
p.Phe1219Leu |
Missense |
11/27 |
- |
1 |
13-32912149-T-G |
c.3657T>G |
p.Phe1219Leu |
Missense |
11/27 |
- |
1 |
13-32912147-T-C |
c.3655T>C |
p.Phe1219Leu |
Missense |
11/27 |
- |
1 |
13-32912153-T-C |
c.3661T>C |
p.Ser1221Pro |
Missense |
11/27 |
- |
1 |
13-32912154-C-A |
c.3662C>A |
p.Ser1221Tyr |
Missense |
11/27 |
- |
1 |
13-32912167-A-G |
c.3675A>G |
p.Thr1225Thr |
Synonymous |
11/27 |
- |
1 |
13-32912167-A-C |
c.3675A>C |
p.Thr1225Thr |
Synonymous |
11/27 |
- |
1 |
13-32912167-A-T |
c.3675A>T |
p.Thr1225Thr |
Synonymous |
11/27 |
- |
1 |
13-32912172-CTG-C |
c.3680_3681del |
p.Leu1227Glnfs*5 |
Frameshift |
11/27 |
- |
4 |
13-32912174-GAATG-G |
c.3682_3685del |
p.Asn1228Phefs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912174-A-G |
c.3682A>G |
p.Asn1228Asp |
Missense |
11/27 |
- |
3 |
13-32912175-A-G |
c.3683A>G |
p.Asn1228Ser |
Missense |
11/27 |
- |
1 |
13-32912181-TC-T |
c.3689del |
p.Ser1230Leufs*9 |
Frameshift |
11/27 |
- |
1 |
13-32912181-C-T |
c.3689C>T |
p.Ser1230Phe |
Missense |
11/27 |
- |
1 |
13-32912185-T-C |
c.3693T>C |
p.Thr1231Thr |
Synonymous |
11/27 |
- |
1 |
13-32912189-G-A |
c.3697G>A |
p.Ala1233Thr |
Missense |
11/27 |
- |
1 |
13-32912190-C-T |
c.3698C>T |
p.Ala1233Val |
Missense |
11/27 |
- |
1 |
13-32912192-TCTGCA-T |
c.3700_3704del |
p.Leu1234Lysfs*7 |
Frameshift |
11/27 |
- |
3 |
13-32912210-C-T |
c.3718C>T |
p.Leu1240Leu |
Synonymous |
11/27 |
- |
1 |
13-32912212-TGT-T |
c.3720_3721del |
p.Phe1241* |
Frameshift |
11/27 |
- |
1 |
13-32912215-T-G |
c.3723T>G |
p.Phe1241Leu |
Missense |
11/27 |
- |
2 |
13-32912215-TT-T |
c.3723del |
p.Phe1241Leufs*18 |
Frameshift |
11/27 |
- |
1 |
13-32912236-GTGAG-G |
c.3744_3747del |
p.Ser1248Argfs*10 |
Frameshift |
11/27 |
- |
11 |
13-32912240-G-T |
c.3748G>T |
p.Glu1250* |
Nonsense |
11/27 |
- |
4 |
13-32912241-A-G |
c.3749A>G |
p.Glu1250Gly |
Missense |
11/27 |
- |
1 |
13-32912243-A-AA |
c.3751dup |
p.Thr1251Asnfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32912251-A-AA |
c.3759dup |
p.Glu1254Argfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32912252-G-T |
c.3760G>T |
p.Glu1254* |
Nonsense |
11/27 |
- |
1 |
13-32912274-C-G |
c.3782C>G |
p.Ser1261Cys |
Missense |
11/27 |
- |
1 |
13-32912277-C-A |
c.3785C>A |
p.Ser1262* |
Nonsense |
11/27 |
- |
1 |
13-32912285-T-A |
c.3793T>A |
p.Cys1265Ser |
Missense |
11/27 |
- |
2 |
13-32912286-G-T |
c.3794G>T |
p.Cys1265Phe |
Missense |
11/27 |
- |
1 |
13-32912299-T-C |
c.3807T>C |
p.Val1269Val |
Synonymous |
11/27 |
- |
46 |
13-32912299-T-G |
c.3807T>G |
p.Val1269Val |
Synonymous |
11/27 |
- |
39 |
13-32912306-AA-A |
c.3814del |
p.Met1272Cysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912311-TT-T |
c.3819del |
p.Phe1273Leufs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912313-AAGATA-A |
c.3821_3825del |
p.Lys1274Argfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912315-A-G |
c.3823A>G |
p.Ile1275Val |
Missense |
11/27 |
- |
2 |
13-32912317-A-G |
c.3825A>G |
p.Ile1275Met |
Missense |
11/27 |
- |
1 |
13-32912318-G-T |
c.3826G>T |
p.Glu1276* |
Nonsense |
11/27 |
- |
1 |
13-32912328-AA-A |
c.3836del |
p.Asn1279Metfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32912330-TGATAAAACTGTAAGTGAAAAAAATAAT-T |
c.3838_3864del |
p.Asp1280_Asn1288del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912331-A-T |
c.3839A>T |
p.Asp1280Val |
Missense |
11/27 |
- |
3 |
13-32912339-TGT-T |
c.3847_3848del |
p.Val1283Lysfs*2 |
Frameshift |
11/27 |
- |
32 |
13-32912350-AAAA-A |
c.3858_3860del |
p.Lys1286del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912350-A-AT |
c.3858_3859insT |
p.Asn1287* |
Nonsense |
11/27 |
- |
1 |
13-32912352-AA-A |
c.3860del |
p.Asn1287Ilefs*6 |
Frameshift |
11/27 |
- |
14 |
13-32912356-ATAA-A |
c.3864_3866del |
p.Asn1288del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912361-G-A |
c.3869G>A |
p.Cys1290Tyr |
Missense |
11/27 |
- |
6 |
13-32912365-AA-A |
c.3873del |
p.Gln1291Hisfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912371-TAT-T |
c.3879_3880del |
p.Leu1294Thrfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912375-C-T |
c.3883C>T |
p.Gln1295* |
Nonsense |
11/27 |
- |
3 |
13-32912387-G-T |
c.3895G>T |
p.Glu1299* |
Nonsense |
11/27 |
- |
3 |
13-32912388-A-T |
c.3896A>T |
p.Glu1299Val |
Missense |
11/27 |
- |
2 |
13-32912396-A-G |
c.3904A>G |
p.Thr1302Ala |
Missense |
11/27 |
- |
1 |
13-32912396-TACT-T |
c.3904_3906del |
p.Thr1302del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912408-G-A |
c.3916G>A |
p.Val1306Ile |
Missense |
11/27 |
- |
3 |
13-32912411-TG-T |
c.3919del |
p.Glu1307Lysfs*28 |
Frameshift |
11/27 |
- |
1 |
13-32912414-G-T |
c.3922G>T |
p.Glu1308* |
Nonsense |
11/27 |
- |
17 |
13-32912419-TT-T |
c.3927del |
p.Thr1310Leufs*25 |
Frameshift |
11/27 |
- |
1 |
13-32912431-AC-A |
c.3939del |
p.Tyr1313* |
Frameshift |
11/27 |
- |
1 |
13-32912432-CAA-C |
c.3940_3941del |
p.Lys1314Glufs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912454-A-G |
c.3962A>G |
p.Asp1321Gly |
Missense |
11/27 |
- |
2 |
13-32912459-A-T |
c.3967A>T |
p.Lys1323* |
Nonsense |
11/27 |
- |
1 |
13-32912461-AA-A |
c.3969del |
p.Lys1323Asnfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32912464-ATACT-A |
c.3972_3975del |
p.Tyr1324* |
Frameshift |
11/27 |
- |
1 |
13-32912465-TA-T |
c.3973del |
p.Thr1325Leufs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912473-C-CTGCA |
c.3981_3982insTGCA |
p.Ser1328Cysfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912497-A-AA |
c.4005dup |
p.Phe1336Ilefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912498-T-TA |
c.4006_4007insA |
p.Phe1336Tyrfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912504-G-A |
c.4012G>A |
p.Gly1338Ser |
Missense |
11/27 |
- |
1 |
13-32912504-G-T |
c.4012G>T |
p.Gly1338Cys |
Missense |
11/27 |
- |
1 |
13-32912513-TT-T |
c.4021del |
p.Ser1341Glnfs*33 |
Frameshift |
11/27 |
- |
2 |
13-32912521-A-ACACA |
c.4029_4030insCACA |
p.Asn1344Hisfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912526-GA-G |
c.4034del |
p.Asp1345Valfs*29 |
Frameshift |
11/27 |
- |
4 |
13-32912527-T-C |
c.4035T>C |
p.Asp1345Asp |
Synonymous |
11/27 |
- |
1 |
13-32912527-AT-A |
c.4035del |
p.Asp1345Glufs*29 |
Frameshift |
11/27 |
- |
1 |
13-32912533-TTT-T |
c.4041_4042del |
p.Cys1348Tyrfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912538-T-C |
c.4046T>C |
p.Ile1349Thr |
Missense |
11/27 |
- |
3 |
13-32912546-G-T |
c.4054G>T |
p.Asp1352Tyr |
Missense |
11/27 |
- |
5 |
13-32912546-G-A |
c.4054G>A |
p.Asp1352Asn |
Missense |
11/27 |
- |
2 |
13-32912553-C-T |
c.4061C>T |
p.Thr1354Met |
Missense |
11/27 |
- |
6 |
13-32912560-G-A |
c.4068G>A |
p.Leu1356Leu |
Synonymous |
11/27 |
- |
4 |
13-32912570-TG-T |
c.4078del |
p.Asp1360Ilefs*14 |
Frameshift |
11/27 |
- |
1 |
13-32912573-C-T |
c.4081C>T |
p.Gln1361* |
Nonsense |
11/27 |
- |
1 |
13-32912577-CA-C |
c.4085del |
p.His1362Profs*12 |
Frameshift |
11/27 |
- |
2 |
13-32912582-A-T |
c.4090A>T |
p.Ile1364Leu |
Missense |
11/27 |
- |
1 |
13-32912582-A-C |
c.4090A>C |
p.Ile1364Leu |
Missense |
11/27 |
- |
1 |
13-32912584-TAT-T |
c.4092_4093del |
p.Ile1364Metfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912586-G-A |
c.4094G>A |
p.Cys1365Tyr |
Missense |
11/27 |
- |
4 |
13-32912587-T-A |
c.4095T>A |
p.Cys1365* |
Nonsense |
11/27 |
- |
1 |
13-32912602-C-T |
c.4110C>T |
p.Gly1370Gly |
Synonymous |
11/27 |
- |
1 |
13-32912603-C-T |
c.4111C>T |
p.Gln1371* |
Nonsense |
11/27 |
- |
3 |
13-32912613-AA-A |
c.4121del |
p.Lys1374Argfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32912615-G-T |
c.4123G>T |
p.Glu1375* |
Nonsense |
11/27 |
- |
1 |
13-32912618-G-T |
c.4126G>T |
p.Gly1376* |
Nonsense |
11/27 |
- |
2 |
13-32912619-G-C |
c.4127G>C |
p.Gly1376Ala |
Missense |
11/27 |
- |
1 |
13-32912621-A-G |
c.4129A>G |
p.Asn1377Asp |
Missense |
11/27 |
- |
1 |
13-32912623-C-CTGAGGA |
c.4131_4132insTGAGGA |
p.Asn1377_Thr1378ins* |
Nonsense |
11/27 |
- |
3 |
13-32912624-CAC-C |
c.4132_4133del |
p.Thr1378Serfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912625-ACTCA-A |
c.4133_4136del |
p.Thr1378Argfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912628-A-G |
c.4136A>G |
p.Gln1379Arg |
Missense |
11/27 |
- |
1 |
13-32912636-G-A |
c.4144G>A |
p.Glu1382Lys |
Missense |
11/27 |
- |
1 |
13-32912638-AAGA-A |
c.4146_4148del |
p.Glu1382del |
InFrameDeletion |
11/27 |
- |
2 |
13-32912643-TT-T |
c.4151del |
p.Leu1384Cysfs*4 |
Frameshift |
11/27 |
- |
2 |
13-32912646-C-T |
c.4154C>T |
p.Ser1385Leu |
Missense |
11/27 |
- |
1 |
13-32912655-C-A |
c.4163C>A |
p.Thr1388Asn |
Missense |
11/27 |
- |
1 |
13-32912663-G-T |
c.4171G>T |
p.Glu1391* |
Nonsense |
11/27 |
- |
1 |
13-32912663-GG-G |
c.4171del |
p.Glu1391Lysfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32912664-A-G |
c.4172A>G |
p.Glu1391Gly |
Missense |
11/27 |
- |
2 |
13-32912675-G-T |
c.4183G>T |
p.Ala1395Ser |
Missense |
11/27 |
- |
1 |
13-32912679-A-G |
c.4187A>G |
p.Gln1396Arg |
Missense |
11/27 |
- |
4 |
13-32912699-A-AA |
c.4207dup |
p.Thr1403Asnfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912699-A-G |
c.4207A>G |
p.Thr1403Ala |
Missense |
11/27 |
- |
1 |
13-32912700-C-T |
c.4208C>T |
p.Thr1403Ile |
Missense |
11/27 |
- |
1 |
13-32912703-C-G |
c.4211C>G |
p.Ser1404* |
Nonsense |
11/27 |
- |
2 |
13-32912710-AAGAA-A |
c.4218_4221del |
p.Lys1406Asnfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912714-C-T |
c.4222C>T |
p.Gln1408* |
Nonsense |
11/27 |
- |
3 |
13-32912715-CA-C |
c.4223del |
p.Gln1408Argfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912723-G-A |
c.4231G>A |
p.Ala1411Thr |
Missense |
11/27 |
- |
1 |
13-32912732-AA-A |
c.4240del |
p.Thr1414Argfs*5 |
Frameshift |
11/27 |
- |
2 |
13-32912733-C-T |
c.4241C>T |
p.Thr1414Met |
Missense |
11/27 |
- |
3 |
13-32912735-GG-G |
c.4243del |
p.Glu1415Serfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912744-A-G |
c.4252A>G |
p.Ile1418Val |
Missense |
11/27 |
- |
1 |
13-32912745-T-C |
c.4253T>C |
p.Ile1418Thr |
Missense |
11/27 |
- |
1 |
13-32912750-AG-A |
c.4258del |
p.Asp1420Ilefs*28 |
Frameshift |
11/27 |
- |
6 |
13-32912750-G-T |
c.4258G>T |
p.Asp1420Tyr |
Missense |
11/27 |
- |
31 |
13-32912750-G-A |
c.4258G>A |
p.Asp1420Asn |
Missense |
11/27 |
- |
1 |
13-32912763-C-G |
c.4271C>G |
p.Ser1424Cys |
Missense |
11/27 |
- |
1 |
13-32912776-T-TT |
c.4284dup |
p.Gln1429Serfs*9 |
Frameshift |
11/27 |
- |
11 |
13-32912777-C-CT |
c.4285_4286insT |
p.Gln1429Leufs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912777-C-CG |
c.4285_4286insG |
p.Gln1429Argfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912777-C-T |
c.4285C>T |
p.Gln1429* |
Nonsense |
11/27 |
- |
1 |
13-32912780-A-G |
c.4288A>G |
p.Thr1430Ala |
Missense |
11/27 |
- |
3 |
13-32912783-G-A |
c.4291G>A |
p.Ala1431Thr |
Missense |
11/27 |
- |
1 |
13-32912789-G-A |
c.4297G>A |
p.Gly1433Arg |
Missense |
11/27 |
- |
1 |
13-32912793-A-T |
c.4301A>T |
p.Lys1434Ile |
Missense |
11/27 |
- |
5 |
13-32912799-T-C |
c.4307T>C |
p.Ile1436Thr |
Missense |
11/27 |
- |
1 |
13-32912800-T-C |
c.4308T>C |
p.Ile1436Ile |
Synonymous |
11/27 |
- |
5 |
13-32912802-G-A |
c.4310G>A |
p.Ser1437Asn |
Missense |
11/27 |
- |
1 |
13-32912806-TC-T |
c.4314del |
p.Ala1439Profs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912806-C-T |
c.4314C>T |
p.Val1438Val |
Synonymous |
11/27 |
- |
2 |
13-32912808-C-A |
c.4316C>A |
p.Ala1439Asp |
Missense |
11/27 |
- |
1 |
13-32912817-C-A |
c.4325C>A |
p.Ser1442* |
Nonsense |
11/27 |
- |
1 |
13-32912826-A-C |
c.4334A>C |
p.Lys1445Thr |
Missense |
11/27 |
- |
1 |
13-32912831-GT-TA |
c.4339_4340delinsTA |
p.Val1447* |
Nonsense |
11/27 |
- |
1 |
13-32912839-C-G |
c.4347C>G |
p.Phe1449Leu |
Missense |
11/27 |
- |
1 |
13-32912842-T-TT |
c.4350dup |
p.Asp1451* |
Nonsense |
11/27 |
- |
1 |
13-32912843-TG-T |
c.4351del |
p.Asp1451Ilefs*12 |
Frameshift |
11/27 |
- |
1 |
13-32912846-CA-GG |
c.4354_4355delinsGG |
p.Gln1452Gly |
Missense |
11/27 |
- |
1 |
13-32912849-A-AT |
c.4357_4358insT |
p.Lys1453Ilefs*7 |
Frameshift |
11/27 |
- |
1 |
13-32912863-G-C |
c.4371G>C |
p.Leu1457Phe |
Missense |
11/27 |
- |
1 |
13-32912863-G-T |
c.4371G>T |
p.Leu1457Phe |
Missense |
11/27 |
- |
1 |
13-32912864-C-T |
c.4372C>T |
p.His1458Tyr |
Missense |
11/27 |
- |
1 |
13-32912865-A-G |
c.4373A>G |
p.His1458Arg |
Missense |
11/27 |
- |
1 |
13-32912867-A-T |
c.4375A>T |
p.Asn1459Tyr |
Missense |
11/27 |
- |
1 |
13-32912868-A-G |
c.4376A>G |
p.Asn1459Ser |
Missense |
11/27 |
- |
2 |
13-32912872-TTT-T |
c.4380_4381del |
p.Ser1461Leufs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912890-TACATT-T |
c.4398_4402del |
p.Leu1466Phefs*2 |
Frameshift |
11/27 |
- |
2 |
13-32912901-ATAAGA-A |
c.4409_4413del |
p.Ile1470Lysfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912907-AAGAA-A |
c.4415_4418del |
p.Lys1472Thrfs*6 |
Frameshift |
11/27 |
- |
3 |
13-32912911-AC-A |
c.4419del |
p.Asn1473Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32912919-A-G |
c.4427A>G |
p.Asp1476Gly |
Missense |
11/27 |
- |
2 |
13-32912932-T-G |
c.4440T>G |
p.Tyr1480* |
Nonsense |
11/27 |
- |
3 |
13-32912941-CA-C |
c.4449del |
p.Asp1484Thrfs*2 |
Frameshift |
11/27 |
- |
3 |
13-32912944-C-T |
c.4452C>T |
p.Asp1484Asp |
Synonymous |
11/27 |
- |
1 |
13-32912948-AGTTA-A |
c.4456_4459del |
p.Val1486Asnfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32912959-A-C |
c.4467A>C |
p.Lys1489Asn |
Missense |
11/27 |
- |
1 |
13-32912959-A-T |
c.4467A>T |
p.Lys1489Asn |
Missense |
11/27 |
- |
1 |
13-32912963-ACTGA-A |
c.4471_4474del |
p.Leu1491Lysfs*12 |
Frameshift |
11/27 |
- |
4 |
13-32912968-A-AT |
c.4476_4477insT |
p.Glu1493* |
Nonsense |
11/27 |
- |
1 |
13-32912969-AGAA-A |
c.4477_4479del |
p.Glu1493del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912969-G-C |
c.4477G>C |
p.Glu1493Gln |
Missense |
11/27 |
- |
1 |
13-32912970-GAAAG-G |
c.4478_4481del |
p.Glu1493Valfs*10 |
Frameshift |
11/27 |
- |
6 |
13-32912972-AA-A |
c.4480del |
p.Ser1494Valfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912979-CC-C |
c.4487del |
p.Pro1496Glnfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32912996-C-A |
c.4504C>A |
p.Gln1502Lys |
Missense |
11/27 |
- |
1 |
13-32913004-G-GT |
c.4512_4513insT |
p.Thr1505Tyrfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32913005-A-G |
c.4513A>G |
p.Thr1505Ala |
Missense |
11/27 |
- |
1 |
13-32913017-C-T |
c.4525C>T |
p.Gln1509* |
Nonsense |
11/27 |
- |
1 |
13-32913025-AA-A |
c.4533del |
p.Glu1511Aspfs*32 |
Frameshift |
11/27 |
- |
2 |
13-32913026-C-T |
c.4534C>T |
p.Arg1512Cys |
Missense |
11/27 |
- |
2 |
13-32913027-CG-C |
c.4535del |
p.Arg1512Leufs*31 |
Frameshift |
11/27 |
- |
1 |
13-32913027-G-A |
c.4535G>A |
p.Arg1512His |
Missense |
11/27 |
- |
1 |
13-32913032-G-GC |
c.4540_4541insC |
p.Glu1514Alafs*15 |
Frameshift |
11/27 |
- |
1 |
13-32913036-A-AA |
c.4544dup |
p.Ile1516Aspfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32913044-AG-A |
c.4552del |
p.Glu1518Asnfs*25 |
Frameshift |
11/27 |
- |
2 |
13-32913055-A-C |
c.4563A>C |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
15 |
13-32913055-A-G |
c.4563A>G |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
21 |
13-32913055-A-T |
c.4563A>T |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
15 |
13-32913056-TT-GG |
c.4564_4565delinsGG |
p.Leu1522Gly |
Missense |
11/27 |
- |
1 |
13-32913062-TTTTC-T |
c.4570_4573del |
p.Phe1524Ilefs*18 |
Frameshift |
11/27 |
- |
1 |
13-32913062-TTT-GAG |
c.4570_4572delinsGAG |
p.Phe1524Glu |
Missense |
11/27 |
- |
2 |
13-32913062-T-G |
c.4570T>G |
p.Phe1524Val |
Missense |
11/27 |
- |
7 |
13-32913063-TT-GG |
c.4571_4572delinsGG |
p.Phe1524Trp |
Missense |
11/27 |
- |
2 |
13-32913065-C-T |
c.4573C>T |
p.His1525Tyr |
Missense |
11/27 |
- |
1 |
13-32913066-A-G |
c.4574A>G |
p.His1525Arg |
Missense |
11/27 |
- |
1 |
13-32913067-T-G |
c.4575T>G |
p.His1525Gln |
Missense |
11/27 |
- |
1 |
13-32913067-T-A |
c.4575T>A |
p.His1525Gln |
Missense |
11/27 |
- |
1 |
13-32913068-A-G |
c.4576A>G |
p.Thr1526Ala |
Missense |
11/27 |
- |
4 |
13-32913070-A-G |
c.4578A>G |
p.Thr1526Thr |
Synonymous |
11/27 |
- |
2 |
13-32913071-G-T |
c.4579G>T |
p.Ala1527Ser |
Missense |
11/27 |
- |
2 |
13-32913076-C-T |
c.4584C>T |
p.Ser1528Ser |
Synonymous |
11/27 |
- |
2 |
13-32913077-G-A |
c.4585G>A |
p.Gly1529Arg |
Missense |
11/27 |
- |
18 |
13-32913080-A-G |
c.4588A>G |
p.Lys1530Glu |
Missense |
11/27 |
- |
1 |
13-32913081-A-G |
c.4589A>G |
p.Lys1530Arg |
Missense |
11/27 |
- |
1 |
13-32913082-A-T |
c.4590A>T |
p.Lys1530Asn |
Missense |
11/27 |
- |
1 |
13-32913082-A-C |
c.4590A>C |
p.Lys1530Asn |
Missense |
11/27 |
- |
1 |
13-32913091-A-C |
c.4599A>C |
p.Lys1533Asn |
Missense |
11/27 |
- |
3 |
13-32913095-G-T |
c.4603G>T |
p.Ala1535Ser |
Missense |
11/27 |
- |
4 |
13-32913101-G-A |
c.4609G>A |
p.Glu1537Lys |
Missense |
11/27 |
- |
1 |
13-32913103-A-AG |
c.4611_4612insG |
p.Ser1538Valfs*10 |
Frameshift |
11/27 |
- |
2 |
13-32913106-T-C |
c.4614T>C |
p.Ser1538Ser |
Synonymous |
11/27 |
- |
1 |
13-32913112-C-T |
c.4620C>T |
p.Asp1540Asp |
Synonymous |
11/27 |
- |
1 |
13-32913116-G-T |
c.4624G>T |
p.Val1542Leu |
Missense |
11/27 |
- |
1 |
13-32913116-G-A |
c.4624G>A |
p.Val1542Met |
Missense |
11/27 |
- |
1 |
13-32913119-A-G |
c.4627A>G |
p.Lys1543Glu |
Missense |
11/27 |
- |
1 |
13-32913123-A-AA |
c.4631dup |
p.Asn1544Lysfs*4 |
Frameshift |
11/27 |
- |
2 |
13-32913123-AA-A |
c.4631del |
p.Asn1544Thrfs*24 |
Frameshift |
11/27 |
- |
4 |
13-32913125-C-T |
c.4633C>T |
p.Leu1545Phe |
Missense |
11/27 |
- |
2 |
13-32913125-CTT-TGG |
c.4633_4635delinsTGG |
p.Leu1545Trp |
Missense |
11/27 |
- |
1 |
13-32913125-CTT-GAG |
c.4633_4635delinsGAG |
p.Leu1545Glu |
Missense |
11/27 |
- |
1 |
13-32913128-TTT-GAG |
c.4636_4638delinsGAG |
p.Phe1546Glu |
Missense |
11/27 |
- |
1 |
13-32913129-TT-GG |
c.4637_4638delinsGG |
p.Phe1546Trp |
Missense |
11/27 |
- |
1 |
13-32913129-TT-AA |
c.4637_4638inv |
p.Phe1546* |
Nonsense |
11/27 |
- |
1 |
13-32913130-T-TT |
c.4638dup |
p.Asp1547* |
Nonsense |
11/27 |
- |
1 |
13-32913130-TT-T |
c.4638del |
p.Phe1546Leufs*22 |
Frameshift |
11/27 |
- |
2 |
13-32913135-A-C |
c.4643A>C |
p.Glu1548Ala |
Missense |
11/27 |
- |
1 |
13-32913140-G-T |
c.4648G>T |
p.Glu1550* |
Nonsense |
11/27 |
- |
3 |
13-32913148-T-G |
c.4656T>G |
p.Gly1552Gly |
Synonymous |
11/27 |
- |
1 |
13-32913148-T-C |
c.4656T>C |
p.Gly1552Gly |
Synonymous |
11/27 |
- |
1 |
13-32913148-T-A |
c.4656T>A |
p.Gly1552Gly |
Synonymous |
11/27 |
- |
1 |
13-32913173-C-A |
c.4681C>A |
p.His1561Asn |
Missense |
11/27 |
- |
5 |
13-32913178-A-G |
c.4686A>G |
p.Gln1562Gln |
Synonymous |
11/27 |
- |
2 |
13-32913183-C-CC |
c.4691dup |
p.Thr1566Aspfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32913187-G-C |
c.4695G>C |
p.Lys1565Asn |
Missense |
11/27 |
- |
1 |
13-32913187-G-T |
c.4695G>T |
p.Lys1565Asn |
Missense |
11/27 |
- |
1 |
13-32913188-A-G |
c.4696A>G |
p.Thr1566Ala |
Missense |
11/27 |
- |
1 |
13-32913202-GA-G |
c.4710del |
p.Glu1571Argfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32913206-G-C |
c.4714G>C |
p.Ala1572Pro |
Missense |
11/27 |
- |
1 |
13-32913206-G-A |
c.4714G>A |
p.Ala1572Thr |
Missense |
11/27 |
- |
1 |
13-32913207-C-G |
c.4715C>G |
p.Ala1572Gly |
Missense |
11/27 |
- |
1 |
13-32913208-CT-AAAGACC |
c.4716_4717delinsAAAGACC |
p.Cys1573Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32913217-C-T |
c.4725C>T |
p.Asp1575Asp |
Synonymous |
11/27 |
- |
1 |
13-32913232-T-TTG |
c.4740_4741insTG |
p.Glu1581Trpfs*37 |
Frameshift |
11/27 |
- |
2 |
13-32913234-A-ATG |
c.4742_4743insTG |
p.Glu1581Aspfs*37 |
Frameshift |
11/27 |
- |
1 |
13-32913249-C-T |
c.4757C>T |
p.Thr1586Ile |
Missense |
11/27 |
- |
1 |
13-32913261-A-G |
c.4769A>G |
p.Lys1590Arg |
Missense |
11/27 |
- |
1 |
13-32913263-TG-AC |
c.4771_4772delinsAC |
p.Cys1591Thr |
Missense |
11/27 |
- |
1 |
13-32913270-A-G |
c.4778A>G |
p.Glu1593Gly |
Missense |
11/27 |
- |
1 |
13-32913271-A-C |
c.4779A>C |
p.Glu1593Asp |
Missense |
11/27 |
- |
5 |
13-32913273-AT-A |
c.4781del |
p.Met1594Serfs*23 |
Frameshift |
11/27 |
- |
1 |
13-32913274-G-T |
c.4782G>T |
p.Met1594Ile |
Missense |
11/27 |
- |
1 |
13-32913277-G-A |
c.4785G>A |
p.Gln1595Gln |
Synonymous |
11/27 |
- |
1 |
13-32913282-C-A |
c.4790C>A |
p.Ser1597Tyr |
Missense |
11/27 |
- |
2 |
13-32913285-CTC-C |
c.4793_4794del |
p.Leu1598Glnfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913286-TCAAT-T |
c.4794_4797del |
p.Asn1599Metfs*17 |
Frameshift |
11/27 |
- |
2 |
13-32913290-TAAT-T |
c.4798_4800del |
p.Asn1600del |
InFrameDeletion |
11/27 |
- |
3 |
13-32913295-T-TT |
c.4803dup |
p.Lys1602* |
Nonsense |
11/27 |
- |
1 |
13-32913300-AA-A |
c.4808del |
p.Asn1603Thrfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32913302-C-T |
c.4810C>T |
p.Leu1604Phe |
Missense |
11/27 |
- |
1 |
13-32913305-G-A |
c.4813G>A |
p.Val1605Ile |
Missense |
11/27 |
- |
1 |
13-32913313-TTGA-T |
c.4821_4823del |
p.Ile1607_Glu1608delinsMet |
MultiAAMissense |
11/27 |
- |
1 |
13-32913320-G-A |
c.4828G>A |
p.Val1610Met |
Missense |
11/27 |
- |
1 |
13-32913321-GTG-G |
c.4829_4830del |
p.Val1610Glyfs*4 |
Frameshift |
11/27 |
- |
4 |
13-32913336-T-G |
c.4844T>G |
p.Leu1615Arg |
Missense |
11/27 |
- |
1 |
13-32913337-TCT-T |
c.4845_4846del |
p.Leu1616Lysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913341-AGT-TGA |
c.4849_4851delinsTGA |
p.Ser1617* |
Nonsense |
11/27 |
- |
1 |
13-32913342-G-A |
c.4850G>A |
p.Ser1617Asn |
Missense |
11/27 |
- |
1 |
13-32913346-T-A |
c.4854T>A |
p.Asp1618Glu |
Missense |
11/27 |
- |
1 |
13-32913346-T-G |
c.4854T>G |
p.Asp1618Glu |
Missense |
11/27 |
- |
1 |
13-32913358-GA-G |
c.4866del |
p.Arg1622Serfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32913367-A-AT |
c.4875_4876insT |
p.Asn1626* |
Nonsense |
11/27 |
- |
1 |
13-32913368-AAA-A |
c.4876_4877del |
p.Asn1626Serfs*12 |
Frameshift |
11/27 |
- |
4 |
13-32913374-A-G |
c.4882A>G |
p.Lys1628Glu |
Missense |
11/27 |
- |
1 |
13-32913376-AAA-A |
c.4884_4885del |
p.Lys1628Asnfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32913381-C-G |
c.4889C>G |
p.Ser1630* |
Nonsense |
11/27 |
- |
10 |
13-32913386-A-G |
c.4894A>G |
p.Ser1632Gly |
Missense |
11/27 |
- |
1 |
13-32913389-TATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGC-T |
c.4898_4956del |
p.Ile1633Asnfs*13 |
InFrameDeletion |
11/27 |
- |
2 |
13-32913391-TCTTT-T |
c.4899_4902del |
p.Phe1634* |
Frameshift |
11/27 |
- |
2 |
13-32913392-T-C |
c.4900T>C |
p.Phe1634Leu |
Missense |
11/27 |
- |
1 |
13-32913393-T-C |
c.4901T>C |
p.Phe1634Ser |
Missense |
11/27 |
- |
1 |
13-32913400-AA-A |
c.4908del |
p.Val1637Leufs*7 |
Frameshift |
11/27 |
- |
1 |
13-32913401-G-C |
c.4909G>C |
p.Val1637Leu |
Missense |
11/27 |
- |
1 |
13-32913405-A-G |
c.4913A>G |
p.Lys1638Arg |
Missense |
11/27 |
- |
1 |
13-32913406-A-AA |
c.4914dup |
p.Val1639Serfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913406-A-T |
c.4914A>T |
p.Lys1638Asn |
Missense |
11/27 |
- |
1 |
13-32913407-G-A |
c.4915G>A |
p.Val1639Ile |
Missense |
11/27 |
- |
2 |
13-32913420-T-C |
c.4928T>C |
p.Val1643Ala |
Missense |
11/27 |
- |
4 |
13-32913425-AAAA-A |
c.4933_4935del |
p.Lys1645del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913427-AA-A |
c.4935del |
p.Glu1646Lysfs*24 |
Frameshift |
11/27 |
- |
1 |
13-32913428-AGAAA-A |
c.4936_4939del |
p.Glu1646Glnfs*23 |
Frameshift |
11/27 |
- |
13 |
13-32913428-G-C |
c.4936G>C |
p.Glu1646Gln |
Missense |
11/27 |
- |
1 |
13-32913432-ACA-A |
c.4940_4941del |
p.Thr1647Serfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32913435-GC-G |
c.4943del |
p.Ala1648Glufs*22 |
Frameshift |
11/27 |
- |
1 |
13-32913448-A-G |
c.4956A>G |
p.Ala1652Ala |
Synonymous |
11/27 |
- |
3 |
13-32913454-T-A |
c.4962T>A |
p.Cys1654* |
Nonsense |
11/27 |
- |
2 |
13-32913455-TA-CT |
c.4963_4964delinsCT |
p.Tyr1655Leu |
Missense |
11/27 |
- |
2 |
13-32913455-TT-T |
c.4963del |
p.Tyr1655Thrfs*15 |
Frameshift |
11/27 |
- |
4 |
13-32913456-A-AA |
c.4964dup |
p.Tyr1655* |
Nonsense |
11/27 |
- |
2 |
13-32913456-TACACAAATCAGTCCCCTTA-T |
c.4964_4982del |
p.Tyr1655Phefs*9 |
Frameshift |
11/27 |
- |
1 |
13-32913457-C-G |
c.4965C>G |
p.Tyr1655* |
Nonsense |
11/27 |
- |
19 |
13-32913457-AC-A |
c.4965del |
p.Tyr1655* |
Frameshift |
11/27 |
- |
3 |
13-32913457-C-A |
c.4965C>A |
p.Tyr1655* |
Nonsense |
11/27 |
- |
14 |
13-32913457-C-T |
c.4965C>T |
p.Tyr1655Tyr |
Synonymous |
11/27 |
- |
6 |
13-32913460-A-AGT |
c.4968_4969insGT |
p.Asn1657Valfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32913462-A-G |
c.4970A>G |
p.Asn1657Ser |
Missense |
11/27 |
- |
4 |
13-32913463-T-TGT |
c.4971_4972insGT |
p.Gln1658Valfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32913471-CCT-C |
c.4979_4980del |
p.Pro1660Leufs*5 |
Frameshift |
11/27 |
- |
1 |
13-32913473-TT-T |
c.4981del |
p.Tyr1661Ilefs*9 |
Frameshift |
11/27 |
- |
2 |
13-32913475-T-G |
c.4983T>G |
p.Tyr1661* |
Nonsense |
11/27 |
- |
1 |
13-32913489-AA-A |
c.4997del |
p.Asn1666Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913498-T-G |
c.5006T>G |
p.Leu1669* |
Nonsense |
11/27 |
- |
1 |
13-32913498-T-A |
c.5006T>A |
p.Leu1669* |
Nonsense |
11/27 |
- |
1 |
13-32913512-A-G |
c.5020A>G |
p.Ser1674Gly |
Missense |
11/27 |
- |
1 |
13-32913522-AGAAA-A |
c.5030_5033del |
p.Arg1677Lysfs*4 |
Frameshift |
11/27 |
- |
3 |
13-32913534-GTG-G |
c.5042_5043del |
p.Val1681Glufs*7 |
Frameshift |
11/27 |
- |
8 |
13-32913535-TG-T |
c.5043del |
p.Ser1682Valfs*24 |
Frameshift |
11/27 |
- |
1 |
13-32913540-A-AA |
c.5048dup |
p.Thr1684Aspfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32913553-T-TT |
c.5061dup |
p.Glu1688* |
Nonsense |
11/27 |
- |
1 |
13-32913555-GAAG-G |
c.5063_5065del |
p.Glu1688del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913556-A-AA |
c.5064dup |
p.Ala1689Serfs*6 |
Frameshift |
11/27 |
- |
4 |
13-32913560-A-C |
c.5068A>C |
p.Lys1690Gln |
Missense |
11/27 |
- |
1 |
13-32913562-AAAAA-A |
c.5070_5073del |
p.Lys1690Asnfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32913562-A-C |
c.5070A>C |
p.Lys1690Asn |
Missense |
11/27 |
- |
7 |
13-32913565-A-T |
c.5073A>T |
p.Lys1691Asn |
Missense |
11/27 |
- |
1 |
13-32913565-A-AA |
c.5073dup |
p.Trp1692Metfs*3 |
Frameshift |
11/27 |
- |
18 |
13-32913565-AA-A |
c.5073del |
p.Lys1691Asnfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32913567-G-A |
c.5075G>A |
p.Trp1692* |
Nonsense |
11/27 |
- |
3 |
13-32913571-TT-T |
c.5079del |
p.Arg1694Glufs*12 |
Frameshift |
11/27 |
- |
1 |
13-32913572-A-T |
c.5080A>T |
p.Arg1694* |
Nonsense |
11/27 |
- |
1 |
13-32913573-AGAGA-A |
c.5081_5084del |
p.Arg1694Lysfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32913573-G-T |
c.5081G>T |
p.Arg1694Ile |
Missense |
11/27 |
- |
1 |
13-32913574-A-G |
c.5082A>G |
p.Arg1694Arg |
Synonymous |
11/27 |
- |
1 |
13-32913579-G-T |
c.5087G>T |
p.Gly1696Val |
Missense |
11/27 |
- |
1 |
13-32913583-TAT-T |
c.5091_5092del |
p.Phe1698* |
Frameshift |
11/27 |
- |
1 |
13-32913584-T-C |
c.5092T>C |
p.Phe1698Leu |
Missense |
11/27 |
- |
1 |
13-32913587-G-A |
c.5095G>A |
p.Asp1699Asn |
Missense |
11/27 |
- |
1 |
13-32913588-A-G |
c.5096A>G |
p.Asp1699Gly |
Missense |
11/27 |
- |
3 |
13-32913593-C-T |
c.5101C>T |
p.Gln1701* |
Nonsense |
11/27 |
- |
4 |
13-32913598-CA-C |
c.5106del |
p.Glu1703Lysfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913607-A-AT |
c.5115_5116insT |
p.Asn1706* |
Nonsense |
11/27 |
- |
1 |
13-32913608-AAATA-A |
c.5116_5119del |
p.Asn1706Leufs*5 |
Frameshift |
11/27 |
- |
8 |
13-32913609-A-G |
c.5117A>G |
p.Asn1706Ser |
Missense |
11/27 |
- |
1 |
13-32913615-C-G |
c.5123C>G |
p.Ala1708Gly |
Missense |
11/27 |
- |
1 |
13-32913615-C-A |
c.5123C>A |
p.Ala1708Glu |
Missense |
11/27 |
- |
9 |
13-32913618-A-C |
c.5126A>C |
p.Asp1709Ala |
Missense |
11/27 |
- |
1 |
13-32913620-T-G |
c.5128T>G |
p.Tyr1710Asp |
Missense |
11/27 |
- |
1 |
13-32913622-ATGTA-A |
c.5130_5133del |
p.Tyr1710* |
Frameshift |
11/27 |
- |
3 |
13-32913622-T-G |
c.5130T>G |
p.Tyr1710* |
Nonsense |
11/27 |
- |
2 |
13-32913622-T-A |
c.5130T>A |
p.Tyr1710* |
Nonsense |
11/27 |
- |
2 |
13-32913633-TATTT-T |
c.5141_5144del |
p.Tyr1714Cysfs*10 |
Frameshift |
11/27 |
- |
3 |
13-32913638-GTATG-G |
c.5146_5149del |
p.Tyr1716Lysfs*8 |
Frameshift |
11/27 |
- |
6 |
13-32913640-T-G |
c.5148T>G |
p.Tyr1716* |
Nonsense |
11/27 |
- |
1 |
13-32913641-G-T |
c.5149G>T |
p.Glu1717* |
Nonsense |
11/27 |
- |
1 |
13-32913649-ATTCAA-A |
c.5157_5161del |
p.Asn1719Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913650-T-TA |
c.5158_5159insA |
p.Ser1720Tyrfs*7 |
Frameshift |
11/27 |
- |
2 |
13-32913650-T-TT |
c.5158dup |
p.Ser1720Phefs*7 |
Frameshift |
11/27 |
- |
1 |
13-32913651-C-A |
c.5159C>A |
p.Ser1720* |
Nonsense |
11/27 |
- |
1 |
13-32913655-C-CT |
c.5163_5164insT |
p.Ser1722* |
Nonsense |
11/27 |
- |
3 |
13-32913656-CA-C |
c.5164del |
p.Ser1722Valfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913656-AG-TA |
c.5164_5165delinsTA |
p.Ser1722Tyr |
Missense |
11/27 |
- |
1 |
13-32913656-CAG-C |
c.5164_5165del |
p.Ser1722Tyrfs*4 |
Frameshift |
11/27 |
- |
10 |
13-32913659-A-C |
c.5167A>C |
p.Thr1723Pro |
Missense |
11/27 |
- |
3 |
13-32913665-G-GA |
c.5173_5174insA |
p.Ala1725Aspfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913680-A-T |
c.5188A>T |
p.Asn1730Tyr |
Missense |
11/27 |
- |
1 |
13-32913681-A-AA |
c.5189dup |
p.Asn1730Lysfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32913682-T-A |
c.5190T>A |
p.Asn1730Lys |
Missense |
11/27 |
- |
2 |
13-32913683-C-A |
c.5191C>A |
p.His1731Asn |
Missense |
11/27 |
- |
1 |
13-32913683-C-T |
c.5191C>T |
p.His1731Tyr |
Missense |
11/27 |
- |
2 |
13-32913689-CTC-C |
c.5197_5198del |
p.Ser1733Argfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32913690-C-T |
c.5198C>T |
p.Ser1733Phe |
Missense |
11/27 |
- |
4 |
13-32913691-C-T |
c.5199C>T |
p.Ser1733Ser |
Synonymous |
11/27 |
- |
7 |
13-32913692-G-A |
c.5200G>A |
p.Glu1734Lys |
Missense |
11/27 |
- |
1 |
13-32913694-A-C |
c.5202A>C |
p.Glu1734Asp |
Missense |
11/27 |
- |
1 |
13-32913697-AACAA-A |
c.5205_5208del |
p.Gln1736Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913705-ACTTA-A |
c.5213_5216del |
p.Thr1738Ilefs*2 |
Frameshift |
11/27 |
- |
12 |
13-32913708-A-AAAA |
c.5216_5217insAAA |
p.Tyr1739delins* |
Nonsense |
11/27 |
- |
1 |
13-32913708-A-AA |
c.5216dup |
p.Tyr1739* |
Nonsense |
11/27 |
- |
1 |
13-32913709-T-A |
c.5217T>A |
p.Tyr1739* |
Nonsense |
11/27 |
- |
1 |
13-32913709-ATTTAAGT-A |
c.5217_5223del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
5 |
13-32913709-ATTTAAGTA-A |
c.5217_5224del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
1 |
13-32913709-T-TA |
c.5217_5218insA |
p.Leu1740Ilefs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913709-ATTTAA-A |
c.5217_5221del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
1 |
13-32913709-ATTTA-A |
c.5217_5220del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
1 |
13-32913710-TTTAAGTA-T |
c.5218_5224del |
p.Leu1740Thrfs*35 |
Frameshift |
11/27 |
- |
1 |
13-32913710-TTTAAGTAACAGTAGCAT-T |
c.5218_5234del |
p.Leu1740Valfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913710-TTTAAGT-T |
c.5218_5223del |
p.Leu1740_Ser1741del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913711-T-G |
c.5219T>G |
p.Leu1740* |
Nonsense |
11/27 |
- |
2 |
13-32913711-T-TT |
c.5219dup |
p.Leu1740Phefs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913711-T-TTA |
c.5219_5220insTA |
p.Leu1740Phefs*38 |
Frameshift |
11/27 |
- |
1 |
13-32913711-TT-T |
c.5219del |
p.Leu1740* |
Frameshift |
11/27 |
- |
2 |
13-32913712-A-AT |
c.5220_5221insT |
p.Ser1741* |
Nonsense |
11/27 |
- |
1 |
13-32913714-AGTA-A |
c.5222_5224del |
p.Ser1741del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913714-AGTAA-A |
c.5222_5225del |
p.Ser1741Thrfs*35 |
Frameshift |
11/27 |
- |
2 |
13-32913717-A-G |
c.5225A>G |
p.Asn1742Ser |
Missense |
11/27 |
- |
1 |
13-32913717-AACAGTA-A |
c.5225_5230del |
p.Asn1742_Ser1743del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913721-GTAG-G |
c.5229_5231del |
p.Ser1744del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913723-G-T |
c.5231G>T |
p.Ser1744Ile |
Missense |
11/27 |
- |
2 |
13-32913725-CA-C |
c.5233del |
p.Met1745Cysfs*32 |
Frameshift |
11/27 |
- |
1 |
13-32913727-G-GGC |
c.5235_5236insGC |
p.Ser1746Alafs*32 |
Frameshift |
11/27 |
- |
1 |
13-32913730-T-TT |
c.5238dup |
p.Asn1747* |
Nonsense |
11/27 |
- |
6 |
13-32913730-CT-C |
c.5238del |
p.Asn1747Thrfs*30 |
Frameshift |
11/27 |
- |
1 |
13-32913731-A-AT |
c.5239_5240insT |
p.Asn1747Ilefs*8 |
Frameshift |
11/27 |
- |
10 |
13-32913733-C-CTA |
c.5241_5242insTA |
p.Ser1748* |
Nonsense |
11/27 |
- |
1 |
13-32913736-GC-G |
c.5244del |
p.Tyr1749Ilefs*28 |
Frameshift |
11/27 |
- |
1 |
13-32913745-C-A |
c.5253C>A |
p.Tyr1751* |
Nonsense |
11/27 |
- |
2 |
13-32913752-G-T |
c.5260G>T |
p.Asp1754Tyr |
Missense |
11/27 |
- |
1 |
13-32913753-A-G |
c.5261A>G |
p.Asp1754Gly |
Missense |
11/27 |
- |
1 |
13-32913755-G-GC |
c.5263_5264insC |
p.Glu1755Alafs*4 |
Frameshift |
11/27 |
- |
5 |
13-32913755-G-T |
c.5263G>T |
p.Glu1755* |
Nonsense |
11/27 |
- |
1 |
13-32913758-G-GG |
c.5266dup |
p.Val1756Glyfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913758-G-GC |
c.5266_5267insC |
p.Val1756Alafs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913764-A-G |
c.5272A>G |
p.Asn1758Asp |
Missense |
11/27 |
- |
1 |
13-32913764-TAAT-T |
c.5272_5274del |
p.Asn1758del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913770-T-G |
c.5278T>G |
p.Ser1760Ala |
Missense |
11/27 |
- |
3 |
13-32913771-C-A |
c.5279C>A |
p.Ser1760* |
Nonsense |
11/27 |
- |
1 |
13-32913771-C-G |
c.5279C>G |
p.Ser1760* |
Nonsense |
11/27 |
- |
2 |
13-32913773-G-T |
c.5281G>T |
p.Gly1761* |
Nonsense |
11/27 |
- |
1 |
13-32913778-T-G |
c.5286T>G |
p.Tyr1762* |
Nonsense |
11/27 |
- |
3 |
13-32913778-T-A |
c.5286T>A |
p.Tyr1762* |
Nonsense |
11/27 |
- |
3 |
13-32913782-CTC-C |
c.5290_5291del |
p.Ser1764Lysfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32913783-C-G |
c.5291C>G |
p.Ser1764* |
Nonsense |
11/27 |
- |
3 |
13-32913787-A-T |
c.5295A>T |
p.Lys1765Asn |
Missense |
11/27 |
- |
1 |
13-32913787-A-C |
c.5295A>C |
p.Lys1765Asn |
Missense |
11/27 |
- |
1 |
13-32913791-TAAACTTGAT-T |
c.5299_5307del |
p.Lys1767_Asp1769del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913793-A-AA |
c.5301dup |
p.Leu1768Thrfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913794-ACTTGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTT-A |
c.5302_5360del |
p.Leu1768Phefs*19 |
SpliceDonorDeletion |
11/27 |
- |
1 |
13-32913795-CTT-C |
c.5303_5304del |
p.Leu1768Argfs*5 |
Frameshift |
11/27 |
- |
5 |
13-32913797-TGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTC-T |
c.5305_5363del |
p.Asp1769Glnfs*18 |
SpliceDonorDeletion |
11/27 |
- |
1 |
13-32913803-TGGTATTGAGCCAGTATTGAAGAA-T |
c.5311_5333del |
p.Gly1771Cysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913804-G-T |
c.5312G>T |
p.Gly1771Val |
Missense |
11/27 |
- |
1 |
13-32913804-G-A |
c.5312G>A |
p.Gly1771Asp |
Missense |
11/27 |
- |
9 |
13-32913811-G-C |
c.5319G>C |
p.Glu1773Asp |
Missense |
11/27 |
- |
1 |
13-32913816-T-G |
c.5324T>G |
p.Val1775Gly |
Missense |
11/27 |
- |
1 |
13-32913816-GTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATATCCAATGTA-G |
c.5324_5382del |
p.Val1775Glufs*12 |
Frameshift |
11/27 |
- |
1 |
13-32913820-G-GG |
c.5328dup |
p.Lys1777Glufs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913823-AGAA-A |
c.5331_5333del |
p.Lys1777del |
InFrameDeletion |
11/27 |
- |
1 |
13-32913825-A-G |
c.5333A>G |
p.Asn1778Ser |
Missense |
11/27 |
- |
1 |
13-32913832-A-AT |
c.5340_5341insT |
p.Asp1781* |
Nonsense |
11/27 |
- |
1 |
13-32913833-G-A |
c.5341G>A |
p.Asp1781Asn |
Missense |
11/27 |
- |
1 |
13-32913837-A-C |
c.5345A>C |
p.Gln1782Pro |
Missense |
11/27 |
- |
1 |
13-32913842-AAA-A |
c.5350_5351del |
p.Asn1784Hisfs*2 |
Frameshift |
11/27 |
- |
4 |
13-32913843-A-AA |
c.5351dup |
p.Asn1784Lysfs*3 |
Frameshift |
11/27 |
- |
17 |
13-32913843-AA-A |
c.5351del |
p.Asn1784Thrfs*7 |
Frameshift |
11/27 |
- |
5 |
13-32913844-C-CTA |
c.5352_5353insTA |
p.Thr1785* |
Nonsense |
11/27 |
- |
1 |
13-32913845-CAC-C |
c.5353_5354del |
p.Thr1785* |
Frameshift |
11/27 |
- |
2 |
13-32913856-C-CC |
c.5364dup |
p.Lys1789Glnfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32913866-AT-A |
c.5374del |
p.Ser1792Profs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913867-C-T |
c.5375C>T |
p.Ser1792Phe |
Missense |
11/27 |
- |
1 |
13-32913869-A-T |
c.5377A>T |
p.Asn1793Tyr |
Missense |
11/27 |
- |
1 |
13-32913872-TG-T |
c.5380del |
p.Val1794* |
Frameshift |
11/27 |
- |
1 |
13-32913877-A-AA |
c.5385dup |
p.Asp1796Argfs*11 |
Frameshift |
11/27 |
- |
2 |
13-32913878-G-T |
c.5386G>T |
p.Asp1796Tyr |
Missense |
11/27 |
- |
1 |
13-32913882-C-G |
c.5390C>G |
p.Ala1797Gly |
Missense |
11/27 |
- |
1 |
13-32913889-A-G |
c.5397A>G |
p.Ala1799Ala |
Synonymous |
11/27 |
- |
1 |
13-32913902-TGT-T |
c.5410_5411del |
p.Val1804Lysfs*2 |
Frameshift |
11/27 |
- |
5 |
13-32913903-T-C |
c.5411T>C |
p.Val1804Ala |
Missense |
11/27 |
- |
1 |
13-32913906-A-G |
c.5414A>G |
p.Asn1805Ser |
Missense |
11/27 |
- |
1 |
13-32913910-A-G |
c.5418A>G |
p.Glu1806Glu |
Synonymous |
11/27 |
- |
1 |
13-32913915-T-C |
c.5423T>C |
p.Ile1808Thr |
Missense |
11/27 |
- |
1 |
13-32913920-G-A |
c.5428G>A |
p.Val1810Ile |
Missense |
11/27 |
- |
1 |
13-32913925-AGGAA-A |
c.5433_5436del |
p.Glu1811Aspfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32913926-G-T |
c.5434G>T |
p.Glu1812* |
Nonsense |
11/27 |
- |
1 |
13-32913934-TGACT-T |
c.5442_5445del |
p.Thr1815Alafs*24 |
Frameshift |
11/27 |
- |
1 |
13-32913938-A-AA |
c.5446dup |
p.Ser1816Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32913938-AG-CT |
c.5446_5447inv |
p.Ser1816Leu |
Missense |
11/27 |
- |
1 |
13-32913945-C-G |
c.5453C>G |
p.Ser1818* |
Nonsense |
11/27 |
- |
1 |
13-32913947-C-T |
c.5455C>T |
p.Pro1819Ser |
Missense |
11/27 |
- |
4 |
13-32913951-G-GA |
c.5459_5460insA |
p.Cys1820* |
Nonsense |
11/27 |
- |
1 |
13-32913957-AA-A |
c.5465del |
p.Asn1822Ilefs*18 |
Frameshift |
11/27 |
- |
1 |
13-32913958-T-TT |
c.5466dup |
p.Lys1823* |
Nonsense |
11/27 |
- |
1 |
13-32913962-AAATGCAGC-A |
c.5470_5477del |
p.Asn1824Hisfs*2 |
Frameshift |
11/27 |
- |
3 |
13-32913971-A-G |
c.5479A>G |
p.Ile1827Val |
Missense |
11/27 |
- |
1 |
13-32913972-T-G |
c.5480T>G |
p.Ile1827Ser |
Missense |
11/27 |
- |
1 |
13-32913974-TAAATT-T |
c.5482_5486del |
p.Lys1828Valfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913979-G-T |
c.5487G>T |
p.Leu1829Phe |
Missense |
11/27 |
- |
1 |
13-32913979-G-C |
c.5487G>C |
p.Leu1829Phe |
Missense |
11/27 |
- |
1 |
13-32913982-C-A |
c.5490C>A |
p.Ser1830Ser |
Synonymous |
11/27 |
- |
1 |
13-32913982-C-G |
c.5490C>G |
p.Ser1830Ser |
Synonymous |
11/27 |
- |
1 |
13-32913982-C-T |
c.5490C>T |
p.Ser1830Ser |
Synonymous |
11/27 |
- |
1 |
13-32913984-T-C |
c.5492T>C |
p.Ile1831Thr |
Missense |
11/27 |
- |
1 |
13-32913986-T-C |
c.5494T>C |
p.Ser1832Pro |
Missense |
11/27 |
- |
2 |
13-32913987-TC-T |
c.5495del |
p.Ser1832Leufs*8 |
Frameshift |
11/27 |
- |
5 |
13-32913987-C-A |
c.5495C>A |
p.Ser1832Tyr |
Missense |
11/27 |
- |
1 |
13-32913988-CTAATAGTAAT-C |
c.5496_5505del |
p.Asn1833Ilefs*4 |
Frameshift |
11/27 |
- |
3 |
13-32913990-A-G |
c.5498A>G |
p.Asn1833Ser |
Missense |
11/27 |
- |
1 |
13-32914001-T-C |
c.5509T>C |
p.Phe1837Leu |
Missense |
11/27 |
- |
1 |
13-32914010-G-C |
c.5518G>C |
p.Gly1840Arg |
Missense |
11/27 |
- |
1 |
13-32914021-A-C |
c.5529A>C |
p.Ala1843Ala |
Synonymous |
11/27 |
- |
1 |
13-32914034-CA-C |
c.5542del |
p.Ser1848Valfs*15 |
Frameshift |
11/27 |
- |
3 |
13-32914037-GG-AC |
c.5545_5546delinsAC |
p.Gly1849Thr |
Missense |
11/27 |
- |
1 |
13-32914052-TGT-T |
c.5560_5561del |
p.Val1854Phefs*3 |
Frameshift |
11/27 |
- |
2 |
13-32914061-TG-T |
c.5569del |
p.Glu1857Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32914061-G-T |
c.5569G>T |
p.Glu1857* |
Nonsense |
11/27 |
- |
2 |
13-32914064-A-G |
c.5572A>G |
p.Thr1858Ala |
Missense |
11/27 |
- |
1 |
13-32914068-ATTAA-A |
c.5576_5579del |
p.Ile1859Lysfs*3 |
Frameshift |
11/27 |
- |
39 |
13-32914068-TT-AG |
c.5576_5577delinsAG |
p.Ile1859Lys |
Missense |
11/27 |
- |
1 |
13-32914069-TT-T |
c.5577del |
p.Val1862* |
Frameshift |
11/27 |
- |
1 |
13-32914075-AA-A |
c.5583del |
p.Val1862* |
Frameshift |
11/27 |
- |
1 |
13-32914077-T-G |
c.5585T>G |
p.Val1862Gly |
Missense |
11/27 |
- |
1 |
13-32914082-G-A |
c.5590G>A |
p.Asp1864Asn |
Missense |
11/27 |
- |
1 |
13-32914095-GACAG-G |
c.5603_5606del |
p.Asp1868Valfs*5 |
Frameshift |
11/27 |
- |
2 |
13-32914100-T-C |
c.5608T>C |
p.Phe1870Leu |
Missense |
11/27 |
- |
1 |
13-32914102-C-G |
c.5610C>G |
p.Phe1870Leu |
Missense |
11/27 |
- |
1 |
13-32914102-C-A |
c.5610C>A |
p.Phe1870Leu |
Missense |
11/27 |
- |
1 |
13-32914101-TC-AG |
c.5609_5610delinsAG |
p.Phe1870* |
Missense |
11/27 |
- |
4 |
13-32914101-T-A |
c.5609T>A |
p.Phe1870Tyr |
Missense |
11/27 |
- |
1 |
13-32914102-C-CT |
c.5610_5611insT |
p.Ser1871* |
Nonsense |
11/27 |
- |
1 |
13-32914104-G-A |
c.5612G>A |
p.Ser1871Asn |
Missense |
11/27 |
- |
1 |
13-32914106-A-T |
c.5614A>T |
p.Lys1872* |
Nonsense |
11/27 |
- |
3 |
13-32914108-AAGTAA-A |
c.5616_5620del |
p.Lys1872Asnfs*2 |
Frameshift |
11/27 |
- |
9 |
13-32914113-ATTAA-A |
c.5621_5624del |
p.Ile1874Argfs*34 |
Frameshift |
11/27 |
- |
4 |
13-32914114-TTAAGGAA-T |
c.5622_5628del |
p.Lys1875Thrfs*32 |
Frameshift |
11/27 |
- |
1 |
13-32914123-AC-A |
c.5631del |
p.Asn1877Lysfs*32 |
Frameshift |
11/27 |
- |
2 |
13-32914125-A-AA |
c.5633dup |
p.Asn1878Lysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914126-C-G |
c.5634C>G |
p.Asn1878Lys |
Missense |
11/27 |
- |
3 |
13-32914127-G-A |
c.5635G>A |
p.Glu1879Lys |
Missense |
11/27 |
- |
3 |
13-32914127-G-T |
c.5635G>T |
p.Glu1879* |
Nonsense |
11/27 |
- |
1 |
13-32914129-G-T |
c.5637G>T |
p.Glu1879Asp |
Missense |
11/27 |
- |
1 |
13-32914132-T-G |
c.5640T>G |
p.Asn1880Lys |
Missense |
11/27 |
- |
3 |
13-32914133-TAAAT-T |
c.5641_5644del |
p.Lys1881Glnfs*27 |
Frameshift |
11/27 |
- |
3 |
13-32914136-ATCAA-A |
c.5644_5647del |
p.Ser1882Lysfs*26 |
Frameshift |
11/27 |
- |
1 |
13-32914137-C-G |
c.5645C>G |
p.Ser1882* |
Nonsense |
11/27 |
- |
15 |
13-32914137-C-A |
c.5645C>A |
p.Ser1882* |
Nonsense |
11/27 |
- |
37 |
13-32914148-C-T |
c.5656C>T |
p.Gln1886* |
Nonsense |
11/27 |
- |
1 |
13-32914159-TT-T |
c.5667del |
p.Met1890Trpfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32914161-ATGGCA-A |
c.5669_5673del |
p.Met1890Argfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32914173-A-AA |
c.5681dup |
p.Tyr1894* |
Nonsense |
11/27 |
- |
4 |
13-32914174-AC-A |
c.5682del |
p.Tyr1894* |
Frameshift |
11/27 |
- |
1 |
13-32914174-C-A |
c.5682C>A |
p.Tyr1894* |
Nonsense |
11/27 |
- |
17 |
13-32914174-C-G |
c.5682C>G |
p.Tyr1894* |
Nonsense |
11/27 |
- |
34 |
13-32914174-C-CA |
c.5682_5683insA |
p.Glu1895Argfs*5 |
Frameshift |
11/27 |
- |
2 |
13-32914178-GGCA-G |
c.5686_5688del |
p.Ala1896del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914182-T-A |
c.5690T>A |
p.Leu1897* |
Nonsense |
11/27 |
- |
1 |
13-32914184-GA-TG |
c.5692_5693delinsTG |
p.Asp1898Cys |
Missense |
11/27 |
- |
1 |
13-32914191-C-G |
c.5699C>G |
p.Ser1900* |
Nonsense |
11/27 |
- |
1 |
13-32914193-G-A |
c.5701G>A |
p.Glu1901Lys |
Missense |
11/27 |
- |
1 |
13-32914194-A-T |
c.5702A>T |
p.Glu1901Val |
Missense |
11/27 |
- |
1 |
13-32914196-G-A |
c.5704G>A |
p.Asp1902Asn |
Missense |
11/27 |
- |
4 |
13-32914197-A-C |
c.5705A>C |
p.Asp1902Ala |
Missense |
11/27 |
- |
1 |
13-32914200-T-C |
c.5708T>C |
p.Ile1903Thr |
Missense |
11/27 |
- |
1 |
13-32914202-C-G |
c.5710C>G |
p.Leu1904Val |
Missense |
11/27 |
- |
6 |
13-32914205-C-T |
c.5713C>T |
p.His1905Tyr |
Missense |
11/27 |
- |
1 |
13-32914206-A-G |
c.5714A>G |
p.His1905Arg |
Missense |
11/27 |
- |
1 |
13-32914206-A-T |
c.5714A>T |
p.His1905Leu |
Missense |
11/27 |
- |
1 |
13-32914207-T-TT |
c.5715dup |
p.Asn1906* |
Nonsense |
11/27 |
- |
2 |
13-32914212-TCTCT-T |
c.5720_5723del |
p.Ser1907* |
Frameshift |
11/27 |
- |
2 |
13-32914214-TCT-T |
c.5722_5723del |
p.Leu1908Argfs*2 |
Frameshift |
11/27 |
- |
31 |
13-32914215-T-G |
c.5723T>G |
p.Leu1908Arg |
Missense |
11/27 |
- |
1 |
13-32914219-T-TG |
c.5727_5728insG |
p.Asn1910Glufs*2 |
Frameshift |
11/27 |
- |
2 |
13-32914220-TAAT-T |
c.5728_5730del |
p.Asn1910del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914221-A-T |
c.5729A>T |
p.Asn1910Ile |
Missense |
11/27 |
- |
2 |
13-32914225-ATGA-A |
c.5733_5735del |
p.Asp1911del |
InFrameDeletion |
11/27 |
- |
3 |
13-32914226-G-T |
c.5734G>T |
p.Glu1912* |
Nonsense |
11/27 |
- |
1 |
13-32914228-AA-A |
c.5736del |
p.Glu1912Aspfs*51 |
Frameshift |
11/27 |
- |
1 |
13-32914229-T-C |
c.5737T>C |
p.Cys1913Arg |
Missense |
11/27 |
- |
1 |
13-32914236-C-T |
c.5744C>T |
p.Thr1915Met |
Missense |
11/27 |
- |
38 |
13-32914236-CG-TC |
c.5744_5745delinsTC |
p.Thr1915Ile |
Missense |
11/27 |
- |
1 |
13-32914241-TTCACAT-T |
c.5749_5754del |
p.Ser1917_His1918del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914241-TTCA-T |
c.5749_5751del |
p.Ser1917del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914244-ACAT-A |
c.5752_5754del |
p.His1918del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914244-C-T |
c.5752C>T |
p.His1918Tyr |
Missense |
11/27 |
- |
3 |
13-32914245-CA-C |
c.5753del |
p.His1918Leufs*45 |
Frameshift |
11/27 |
- |
3 |
13-32914246-ATA-A |
c.5754_5755del |
p.His1918Glnfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32914246-T-TT |
c.5754dup |
p.Lys1919* |
Nonsense |
11/27 |
- |
1 |
13-32914249-G-A |
c.5757G>A |
p.Lys1919Lys |
Synonymous |
11/27 |
- |
1 |
13-32914255-T-TT |
c.5763dup |
p.Ala1922Cysfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32914260-A-C |
c.5768A>C |
p.Asp1923Ala |
Missense |
11/27 |
- |
2 |
13-32914260-A-T |
c.5768A>T |
p.Asp1923Val |
Missense |
11/27 |
- |
1 |
13-32914263-ATTCA-A |
c.5771_5774del |
p.Ile1924Argfs*38 |
Frameshift |
11/27 |
- |
7 |
13-32914265-TC-T |
c.5773del |
p.Gln1925Argfs*38 |
Frameshift |
11/27 |
- |
1 |
13-32914270-GT-G |
c.5778del |
p.Ser1926Argfs*37 |
Frameshift |
11/27 |
- |
1 |
13-32914274-G-T |
c.5782G>T |
p.Glu1928* |
Nonsense |
11/27 |
- |
1 |
13-32914277-A-G |
c.5785A>G |
p.Ile1929Val |
Missense |
11/27 |
- |
12 |
13-32914281-TT-T |
c.5789del |
p.Leu1930Tyrfs*33 |
Frameshift |
11/27 |
- |
1 |
13-32914283-C-T |
c.5791C>T |
p.Gln1931* |
Nonsense |
11/27 |
- |
2 |
13-32914286-CAT-TAA |
c.5794_5796delinsTAA |
p.His1932* |
Nonsense |
11/27 |
- |
1 |
13-32914288-ATA-A |
c.5796_5797del |
p.His1932Glnfs*12 |
Frameshift |
11/27 |
- |
4 |
13-32914291-ACCAA-A |
c.5799_5802del |
p.Asn1933Lysfs*29 |
Frameshift |
11/27 |
- |
4 |
13-32914292-C-T |
c.5800C>T |
p.Gln1934* |
Nonsense |
11/27 |
- |
1 |
13-32914296-AA-A |
c.5804del |
p.Asn1935Ilefs*28 |
Frameshift |
11/27 |
- |
1 |
13-32914298-TATG-T |
c.5806_5808del |
p.Met1936del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914302-TCT-T |
c.5810_5811del |
p.Ser1937Trpfs*7 |
Frameshift |
11/27 |
- |
1 |
13-32914315-AA-A |
c.5823del |
p.Val1942Phefs*21 |
Frameshift |
11/27 |
- |
1 |
13-32914328-T-C |
c.5836T>C |
p.Ser1946Pro |
Missense |
11/27 |
- |
2 |
13-32914342-T-TT |
c.5850dup |
p.Ser1951* |
Nonsense |
11/27 |
- |
1 |
13-32914343-TAGTT-T |
c.5851_5854del |
p.Ser1951Trpfs*11 |
Frameshift |
11/27 |
- |
6 |
13-32914343-AGT-TGG |
c.5851_5853delinsTGG |
p.Ser1951Trp |
Missense |
11/27 |
- |
1 |
13-32914347-T-A |
c.5855T>A |
p.Leu1952* |
Nonsense |
11/27 |
- |
3 |
13-32914349-G-T |
c.5857G>T |
p.Glu1953* |
Nonsense |
11/27 |
- |
17 |
13-32914356-C-A |
c.5864C>A |
p.Ser1955* |
Nonsense |
11/27 |
- |
4 |
13-32914356-C-G |
c.5864C>G |
p.Ser1955* |
Nonsense |
11/27 |
- |
3 |
13-32914359-A-T |
c.5867A>T |
p.Asp1956Val |
Missense |
11/27 |
- |
1 |
13-32914361-TATAT-T |
c.5869_5872del |
p.Ile1957Valfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32914374-G-A |
c.5882G>A |
p.Ser1961Asn |
Missense |
11/27 |
- |
1 |
13-32914377-T-C |
c.5885T>C |
p.Ile1962Thr |
Missense |
11/27 |
- |
2 |
13-32914388-C-T |
c.5896C>T |
p.His1966Tyr |
Missense |
11/27 |
- |
1 |
13-32914389-A-G |
c.5897A>G |
p.His1966Arg |
Missense |
11/27 |
- |
1 |
13-32914393-G-GG |
c.5901dup |
p.Ser1968Valfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32914394-TC-GG |
c.5902_5903delinsGG |
p.Ser1968Gly |
Missense |
11/27 |
- |
1 |
13-32914396-CAGTC-C |
c.5904_5907del |
p.Val1969Hisfs*34 |
Frameshift |
11/27 |
- |
1 |
13-32914401-C-A |
c.5909C>A |
p.Ser1970* |
Nonsense |
11/27 |
- |
11 |
13-32914402-A-AA |
c.5910dup |
p.Ser1971Ilefs*9 |
Frameshift |
11/27 |
- |
1 |
13-32914427-A-C |
c.5935A>C |
p.Ser1979Arg |
Missense |
11/27 |
- |
1 |
13-32914429-C-A |
c.5937C>A |
p.Ser1979Arg |
Missense |
11/27 |
- |
1 |
13-32914429-C-G |
c.5937C>G |
p.Ser1979Arg |
Missense |
11/27 |
- |
1 |
13-32914431-C-T |
c.5939C>T |
p.Thr1980Ile |
Missense |
11/27 |
- |
2 |
13-32914434-GCAAGTGGAAAATCTGTCCAG-G |
c.5942_5961del |
p.Ala1981Glyfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32914435-A-AT |
c.5943_5944insT |
p.Ser1982* |
Nonsense |
11/27 |
- |
3 |
13-32914436-AAGTGGAAAA-A |
c.5944_5952del |
p.Gly1983_Ser1985del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914438-GTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAG-G |
c.5946_5990del |
p.Ser1982_Ala1996del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914438-GTGGA-G |
c.5946_5949del |
p.Ser1982Argfs*21 |
Frameshift |
11/27 |
- |
2 |
13-32914438-GT-G |
c.5946del |
p.Ser1982Argfs*22 |
Frameshift |
11/27 |
- |
154 |
13-32914443-AAA-A |
c.5951_5952del |
p.Lys1984Ilefs*18 |
Frameshift |
11/27 |
- |
1 |
13-32914444-A-T |
c.5952A>T |
p.Lys1984Asn |
Missense |
11/27 |
- |
1 |
13-32914444-A-C |
c.5952A>C |
p.Lys1984Asn |
Missense |
11/27 |
- |
1 |
13-32914445-ATCT-A |
c.5953_5955del |
p.Ser1985del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914448-TGTC-T |
c.5956_5958del |
p.Val1986del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914451-C-T |
c.5959C>T |
p.Gln1987* |
Nonsense |
11/27 |
- |
3 |
13-32914456-TATCAGATGCTTCATTACAAAACGCAAGACAAGTGT-T |
c.5964_5998del |
p.Ser1989Phefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32914456-TAT-T |
c.5964_5965del |
p.Ser1989Argfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32914458-C-A |
c.5966C>A |
p.Ser1989* |
Nonsense |
11/27 |
- |
1 |
13-32914461-A-C |
c.5969A>C |
p.Asp1990Ala |
Missense |
11/27 |
- |
3 |
13-32914463-G-A |
c.5971G>A |
p.Ala1991Thr |
Missense |
11/27 |
- |
2 |
13-32914464-C-T |
c.5972C>T |
p.Ala1991Val |
Missense |
11/27 |
- |
3 |
13-32914471-A-AA |
c.5979dup |
p.Gln1994Thrfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32914472-C-T |
c.5980C>T |
p.Gln1994* |
Nonsense |
11/27 |
- |
3 |
13-32914476-A-AA |
c.5984dup |
p.Asn1995Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32914478-CGCA-C |
c.5986_5988del |
p.Ala1996del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914478-G-A |
c.5986G>A |
p.Ala1996Thr |
Missense |
11/27 |
- |
3 |
13-32914479-C-G |
c.5987C>G |
p.Ala1996Gly |
Missense |
11/27 |
- |
2 |
13-32914479-C-T |
c.5987C>T |
p.Ala1996Val |
Missense |
11/27 |
- |
1 |
13-32914484-ACAAGTGTTTTCTGA-A |
c.5992_6005del |
p.Gln1998Asnfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914485-CAA-C |
c.5993_5994del |
p.Gln1998Argfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914493-TT-T |
c.6001del |
p.Ser2001Leufs*3 |
Frameshift |
11/27 |
- |
1 |
13-32914494-C-G |
c.6002C>G |
p.Ser2001Cys |
Missense |
11/27 |
- |
1 |
13-32914506-A-T |
c.6014A>T |
p.Asp2005Val |
Missense |
11/27 |
- |
1 |
13-32914508-A-C |
c.6016A>C |
p.Ser2006Arg |
Missense |
11/27 |
- |
1 |
13-32914510-T-G |
c.6018T>G |
p.Ser2006Arg |
Missense |
11/27 |
- |
1 |
13-32914510-T-A |
c.6018T>A |
p.Ser2006Arg |
Missense |
11/27 |
- |
1 |
13-32914516-G-GG |
c.6024dup |
p.Gln2009Alafs*9 |
Frameshift |
11/27 |
- |
10 |
13-32914517-GCAA-G |
c.6025_6027del |
p.Gln2009del |
InFrameDeletion |
11/27 |
- |
2 |
13-32914517-C-T |
c.6025C>T |
p.Gln2009* |
Nonsense |
11/27 |
- |
2 |
13-32914521-T-G |
c.6029T>G |
p.Val2010Gly |
Missense |
11/27 |
- |
4 |
13-32914525-TTT-T |
c.6033_6034del |
p.Ser2012Glnfs*5 |
Frameshift |
11/27 |
- |
3 |
13-32914525-T-TGT |
c.6033_6034insGT |
p.Ser2012Valfs*29 |
Frameshift |
11/27 |
- |
2 |
13-32914526-TT-T |
c.6034del |
p.Ser2012Profs*28 |
Frameshift |
11/27 |
- |
1 |
13-32914526-T-TT |
c.6034dup |
p.Ser2012Phefs*6 |
Frameshift |
11/27 |
- |
1 |
13-32914529-A-T |
c.6037A>T |
p.Lys2013* |
Nonsense |
11/27 |
- |
13 |
13-32914529-A-G |
c.6037A>G |
p.Lys2013Glu |
Missense |
11/27 |
- |
1 |
13-32914531-AA-A |
c.6039del |
p.Val2014Tyrfs*26 |
Frameshift |
11/27 |
- |
3 |
13-32914542-A-C |
c.6050A>C |
p.Lys2017Thr |
Missense |
11/27 |
- |
1 |
13-32914542-A-T |
c.6050A>T |
p.Lys2017Ile |
Missense |
11/27 |
- |
1 |
13-32914550-G-A |
c.6058G>A |
p.Glu2020Lys |
Missense |
11/27 |
- |
1 |
13-32914551-GAACA-G |
c.6059_6062del |
p.Glu2020Valfs*19 |
Frameshift |
11/27 |
- |
2 |
13-32914554-A-G |
c.6062A>G |
p.His2021Arg |
Missense |
11/27 |
- |
1 |
13-32914557-C-G |
c.6065C>G |
p.Ser2022* |
Nonsense |
11/27 |
- |
1 |
13-32914560-GACCAG-G |
c.6068_6072del |
p.Asp2023Alafs*24 |
Frameshift |
11/27 |
- |
1 |
13-32914562-C-A |
c.6070C>A |
p.Gln2024Lys |
Missense |
11/27 |
- |
1 |
13-32914570-CAA-C |
c.6078_6079del |
p.Glu2028Argfs*20 |
Frameshift |
11/27 |
- |
2 |
13-32914571-A-AA |
c.6079dup |
p.Arg2027Lysfs*22 |
Frameshift |
11/27 |
- |
1 |
13-32914572-G-A |
c.6080G>A |
p.Arg2027Lys |
Missense |
11/27 |
- |
1 |
13-32914574-AGA-A |
c.6082_6083del |
p.Glu2028Argfs*20 |
Frameshift |
11/27 |
- |
1 |
13-32914574-AGAAGA-A |
c.6082_6086del |
p.Glu2028Lysfs*19 |
Frameshift |
11/27 |
- |
2 |
13-32914577-AGAAAA-A |
c.6085_6089del |
p.Glu2029Tyrfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32914588-T-TT |
c.6096dup |
p.Ile2033Tyrfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32914590-T-C |
c.6098T>C |
p.Ile2033Thr |
Missense |
11/27 |
- |
1 |
13-32914592-C-T |
c.6100C>T |
p.Arg2034Cys |
Missense |
11/27 |
- |
21 |
13-32914592-C-A |
c.6100C>A |
p.Arg2034Ser |
Missense |
11/27 |
- |
1 |
13-32914593-G-A |
c.6101G>A |
p.Arg2034His |
Missense |
11/27 |
- |
4 |
13-32914608-T-A |
c.6116T>A |
p.Leu2039* |
Nonsense |
11/27 |
- |
1 |
13-32914608-T-G |
c.6116T>G |
p.Leu2039* |
Nonsense |
11/27 |
- |
1 |
13-32914616-C-T |
c.6124C>T |
p.Gln2042* |
Nonsense |
11/27 |
- |
2 |
13-32914617-A-C |
c.6125A>C |
p.Gln2042Pro |
Missense |
11/27 |
- |
1 |
13-32914623-G-T |
c.6131G>T |
p.Gly2044Val |
Missense |
11/27 |
- |
10 |
13-32914623-G-A |
c.6131G>A |
p.Gly2044Asp |
Missense |
11/27 |
- |
1 |
13-32914623-G-C |
c.6131G>C |
p.Gly2044Ala |
Missense |
11/27 |
- |
4 |
13-32914629-C-A |
c.6137C>A |
p.Ser2046* |
Nonsense |
11/27 |
- |
3 |
13-32914633-T-A |
c.6141T>A |
p.Tyr2047* |
Nonsense |
11/27 |
- |
2 |
13-32914635-A-T |
c.6143A>T |
p.Asn2048Ile |
Missense |
11/27 |
- |
3 |
13-32914637-G-A |
c.6145G>A |
p.Val2049Met |
Missense |
11/27 |
- |
1 |
13-32914639-TGGT-T |
c.6147_6149del |
p.Val2050del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914642-A-AT |
c.6150_6151insT |
p.Asn2051* |
Nonsense |
11/27 |
- |
1 |
13-32914647-C-G |
c.6155C>G |
p.Ser2052* |
Nonsense |
11/27 |
- |
1 |
13-32914658-T-C |
c.6166T>C |
p.Ser2056Pro |
Missense |
11/27 |
- |
1 |
13-32914664-T-A |
c.6172T>A |
p.Phe2058Ile |
Missense |
11/27 |
- |
1 |
13-32914666-TT-T |
c.6174del |
p.Phe2058Leufs*12 |
Frameshift |
11/27 |
- |
36 |
13-32914679-GGA-TGT |
c.6187_6189delinsTGT |
p.Gly2063Cys |
Missense |
11/27 |
- |
1 |
13-32914688-GTTTCC-GTACAT |
c.6198_6201delinsACAT |
p.Ser2067His |
MultiAAMissense |
11/27 |
- |
1 |
13-32914690-TTT-T |
c.6198_6199del |
p.Ser2067Hisfs*10 |
Frameshift |
11/27 |
- |
5 |
13-32914694-A-AA |
c.6202dup |
p.Ile2068Asnfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32914704-G-C |
c.6212G>C |
p.Ser2071Thr |
Missense |
11/27 |
- |
1 |
13-32914704-G-T |
c.6212G>T |
p.Ser2071Ile |
Missense |
11/27 |
- |
1 |
13-32914707-TCCT-T |
c.6215_6217del |
p.Ser2072del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914707-C-G |
c.6215C>G |
p.Ser2072Cys |
Missense |
11/27 |
- |
2 |
13-32914708-C-G |
c.6216C>G |
p.Ser2072Ser |
Synonymous |
11/27 |
- |
1 |
13-32914708-C-A |
c.6216C>A |
p.Ser2072Ser |
Synonymous |
11/27 |
- |
1 |
13-32914708-C-T |
c.6216C>T |
p.Ser2072Ser |
Synonymous |
11/27 |
- |
1 |
13-32914712-C-A |
c.6220C>A |
p.His2074Asn |
Missense |
11/27 |
- |
3 |
13-32914714-C-T |
c.6222C>T |
p.His2074His |
Synonymous |
11/27 |
- |
1 |
13-32914723-G-C |
c.6231G>C |
p.Lys2077Asn |
Missense |
11/27 |
- |
3 |
13-32914734-GA-G |
c.6242del |
p.Glu2081Glyfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32914735-AGGAA-A |
c.6243_6246del |
p.Glu2081Aspfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914736-GG-G |
c.6244del |
p.Glu2082Asnfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914751-CA-C |
c.6259del |
p.Arg2087Glufs*32 |
Frameshift |
11/27 |
- |
1 |
13-32914755-C-T |
c.6263C>T |
p.Thr2088Ile |
Missense |
11/27 |
- |
1 |
13-32914763-A-G |
c.6271A>G |
p.Ser2091Gly |
Missense |
11/27 |
- |
1 |
13-32914767-CTT-C |
c.6275_6276del |
p.Leu2092Profs*7 |
Frameshift |
11/27 |
- |
33 |
13-32914779-C-T |
c.6287C>T |
p.Pro2096Leu |
Missense |
11/27 |
- |
1 |
13-32914779-C-G |
c.6287C>G |
p.Pro2096Arg |
Missense |
11/27 |
- |
1 |
13-32914780-CTA-C |
c.6288_6289del |
p.Thr2097Valfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32914782-C-T |
c.6290C>T |
p.Thr2097Met |
Missense |
11/27 |
- |
4 |
13-32914785-C-T |
c.6293C>T |
p.Ser2098Phe |
Missense |
11/27 |
- |
1 |
13-32914800-C-G |
c.6308C>G |
p.Ser2103* |
Nonsense |
11/27 |
- |
2 |
13-32914805-AA-A |
c.6313del |
p.Ile2105Tyrfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32914807-TACTT-T |
c.6315_6318del |
p.Pro2107Valfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32914809-T-C |
c.6317T>C |
p.Leu2106Pro |
Missense |
11/27 |
- |
2 |
13-32914814-C-T |
c.6322C>T |
p.Arg2108Cys |
Missense |
11/27 |
- |
16 |
13-32914815-G-A |
c.6323G>A |
p.Arg2108His |
Missense |
11/27 |
- |
9 |
13-32914815-G-T |
c.6323G>T |
p.Arg2108Leu |
Missense |
11/27 |
- |
1 |
13-32914817-G-A |
c.6325G>A |
p.Val2109Ile |
Missense |
11/27 |
- |
12 |
13-32914825-AGAGAA-A |
c.6333_6337del |
p.Arg2112Profs*15 |
Frameshift |
11/27 |
- |
1 |
13-32914830-A-G |
c.6338A>G |
p.Asn2113Ser |
Missense |
11/27 |
- |
3 |
13-32914835-G-A |
c.6343G>A |
p.Glu2115Lys |
Missense |
11/27 |
- |
1 |
13-32914839-A-G |
c.6347A>G |
p.His2116Arg |
Missense |
11/27 |
- |
7 |
13-32914843-GTGTAAACTCAGAAATGGAAAAAACCTG-G |
c.6351_6377del |
p.Val2118_Cys2126del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914851-C-G |
c.6359C>G |
p.Ser2120* |
Nonsense |
11/27 |
- |
4 |
13-32914858-G-C |
c.6366G>C |
p.Met2122Ile |
Missense |
11/27 |
- |
1 |
13-32914858-G-T |
c.6366G>T |
p.Met2122Ile |
Missense |
11/27 |
- |
1 |
13-32914858-G-A |
c.6366G>A |
p.Met2122Ile |
Missense |
11/27 |
- |
1 |
13-32914865-A-AA |
c.6373dup |
p.Thr2125Asnfs*4 |
Frameshift |
11/27 |
- |
6 |
13-32914865-AA-A |
c.6373del |
p.Thr2125Profs*12 |
Frameshift |
11/27 |
- |
3 |
13-32914868-CTGC-C |
c.6376_6378del |
p.Cys2126del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914871-CA-C |
c.6379del |
p.Ser2127Valfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32914873-T-TTT |
c.6381_6382insTT |
p.Lys2128Leufs*10 |
Frameshift |
11/27 |
- |
1 |
13-32914877-G-T |
c.6385G>T |
p.Glu2129* |
Nonsense |
11/27 |
- |
1 |
13-32914885-AA-A |
c.6393del |
p.Lys2131Asnfs*6 |
Frameshift |
11/27 |
- |
2 |
13-32914885-AATTA-A |
c.6393_6396del |
p.Lys2131Asnfs*5 |
Frameshift |
11/27 |
- |
3 |
13-32914888-A-AA |
c.6396dup |
p.Ser2133Ilefs*3 |
Frameshift |
11/27 |
- |
1 |
13-32914892-AAA-A |
c.6400_6401del |
p.Asn2134* |
Frameshift |
11/27 |
- |
1 |
13-32914894-T-TT |
c.6402dup |
p.Asn2135* |
Nonsense |
11/27 |
- |
3 |
13-32914897-ACTTAA-A |
c.6405_6409del |
p.Asn2135Lysfs*3 |
Frameshift |
11/27 |
- |
19 |
13-32914898-CTT-C |
c.6406_6407del |
p.Leu2136Lysfs*3 |
Frameshift |
11/27 |
- |
4 |
13-32914900-TAAATGTT-T |
c.6408_6414del |
p.Asn2137Lysfs*29 |
Frameshift |
11/27 |
- |
2 |
13-32914902-AA-A |
c.6410del |
p.Asn2137Metfs*31 |
Frameshift |
11/27 |
- |
2 |
13-32914904-G-T |
c.6412G>T |
p.Val2138Phe |
Missense |
11/27 |
- |
5 |
13-32914905-T-A |
c.6413T>A |
p.Val2138Asp |
Missense |
11/27 |
- |
1 |
13-32914908-A-T |
c.6416A>T |
p.Glu2139Val |
Missense |
11/27 |
- |
1 |
13-32914910-G-GTGAA |
c.6418_6419insTGAA |
p.Gly2140Valfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32914919-T-C |
c.6427T>C |
p.Ser2143Pro |
Missense |
11/27 |
- |
1 |
13-32914920-C-A |
c.6428C>A |
p.Ser2143* |
Nonsense |
11/27 |
- |
3 |
13-32914933-C-G |
c.6441C>G |
p.His2147Gln |
Missense |
11/27 |
- |
1 |
13-32914935-TCT-T |
c.6443_6444del |
p.Ser2148Tyrfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32914935-C-A |
c.6443C>A |
p.Ser2148Tyr |
Missense |
11/27 |
- |
1 |
13-32914936-T-TT |
c.6444dup |
p.Ile2149Tyrfs*2 |
Frameshift |
11/27 |
- |
4 |
13-32914937-TAT-T |
c.6445_6446del |
p.Ile2149* |
Frameshift |
11/27 |
- |
2 |
13-32914938-ATTAAA-A |
c.6446_6450del |
p.Ile2149Serfs*25 |
Frameshift |
11/27 |
- |
1 |
13-32914938-ATTAA-A |
c.6446_6449del |
p.Ile2149Lysfs*18 |
Frameshift |
11/27 |
- |
1 |
13-32914939-TTA-T |
c.6447_6448del |
p.Lys2150Serfs*25 |
Frameshift |
11/27 |
- |
1 |
13-32914939-TA-TATA |
c.6447_6448dup |
p.Lys2150Ilefs*19 |
Frameshift |
11/27 |
- |
2 |
13-32914939-T-TT |
c.6447dup |
p.Lys2150* |
Nonsense |
11/27 |
- |
1 |
13-32914940-TAAAGTTTCTCCATATCTCTCTCAATT-T |
c.6448_6473del |
p.Lys2150Serfs*17 |
Frameshift |
11/27 |
- |
2 |
13-32914941-A-ATA |
c.6449_6450insTA |
p.Lys2150Asnfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32914941-AAA-A |
c.6449_6450del |
p.Lys2150Serfs*25 |
Frameshift |
11/27 |
- |
1 |
13-32914942-AA-A |
c.6450del |
p.Val2151Phefs*17 |
Frameshift |
11/27 |
- |
3 |
13-32914942-A-AA |
c.6450dup |
p.Val2151Serfs*25 |
Frameshift |
11/27 |
- |
1 |
13-32914943-G-A |
c.6451G>A |
p.Val2151Ile |
Missense |
11/27 |
- |
1 |
13-32914947-C-A |
c.6455C>A |
p.Ser2152Tyr |
Missense |
11/27 |
- |
2 |
13-32914950-C-T |
c.6458C>T |
p.Pro2153Leu |
Missense |
11/27 |
- |
1 |
13-32914953-A-C |
c.6461A>C |
p.Tyr2154Ser |
Missense |
11/27 |
- |
1 |
13-32914958-CTCTC-C |
c.6466_6469del |
p.Ser2156Asnfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32914959-C-T |
c.6467C>T |
p.Ser2156Phe |
Missense |
11/27 |
- |
1 |
13-32914960-CTC-C |
c.6468_6469del |
p.Gln2157Ilefs*18 |
Frameshift |
11/27 |
- |
11 |
13-32914961-C-T |
c.6469C>T |
p.Gln2157* |
Nonsense |
11/27 |
- |
3 |
13-32914965-T-G |
c.6473T>G |
p.Phe2158Cys |
Missense |
11/27 |
- |
1 |
13-32914967-C-G |
c.6475C>G |
p.Gln2159Glu |
Missense |
11/27 |
- |
1 |
13-32914975-C-CT |
c.6483_6484insT |
p.Lys2162* |
Nonsense |
11/27 |
- |
1 |
13-32914978-A-T |
c.6486A>T |
p.Lys2162Asn |
Missense |
11/27 |
- |
1 |
13-32914978-A-C |
c.6486A>C |
p.Lys2162Asn |
Missense |
11/27 |
- |
1 |
13-32914978-AACAA-A |
c.6486_6489del |
p.Lys2162Asnfs*5 |
Frameshift |
11/27 |
- |
15 |
13-32914982-C-T |
c.6490C>T |
p.Gln2164* |
Nonsense |
11/27 |
- |
3 |
13-32914983-CA-C |
c.6491del |
p.Gln2164Argfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914983-CAGTT-C |
c.6491_6494del |
p.Gln2164Argfs*3 |
Frameshift |
11/27 |
- |
3 |
13-32914988-G-T |
c.6496G>T |
p.Val2166Leu |
Missense |
11/27 |
- |
2 |
13-32914992-T-C |
c.6500T>C |
p.Leu2167Ser |
Missense |
11/27 |
- |
1 |
13-32914994-G-T |
c.6502G>T |
p.Gly2168* |
Nonsense |
11/27 |
- |
1 |
13-32915005-G-A |
c.6513G>A |
p.Val2171Val |
Synonymous |
11/27 |
- |
13 |
13-32915005-G-T |
c.6513G>T |
p.Val2171Val |
Synonymous |
11/27 |
- |
14 |
13-32915005-G-C |
c.6513G>C |
p.Val2171Val |
Synonymous |
11/27 |
- |
19 |
13-32915015-G-C |
c.6523G>C |
p.Glu2175Gln |
Missense |
11/27 |
- |
1 |
13-32915023-TTCAT-T |
c.6531_6534del |
p.Ile2177Metfs*13 |
Frameshift |
11/27 |
- |
2 |
13-32915027-G-GA |
c.6535_6536insA |
p.Val2179Aspfs*10 |
Frameshift |
11/27 |
- |
2 |
13-32915028-T-C |
c.6536T>C |
p.Val2179Ala |
Missense |
11/27 |
- |
1 |
13-32915033-G-T |
c.6541G>T |
p.Gly2181* |
Nonsense |
11/27 |
- |
1 |
13-32915039-G-T |
c.6547G>T |
p.Glu2183* |
Nonsense |
11/27 |
- |
3 |
13-32915042-C-T |
c.6550C>T |
p.Gln2184* |
Nonsense |
11/27 |
- |
1 |
13-32915045-GG-G |
c.6553del |
p.Ala2185Leufs*6 |
Frameshift |
11/27 |
- |
3 |
13-32915046-C-T |
c.6554C>T |
p.Ala2185Val |
Missense |
11/27 |
- |
1 |
13-32915048-T-A |
c.6556T>A |
p.Ser2186Thr |
Missense |
11/27 |
- |
1 |
13-32915054-A-G |
c.6562A>G |
p.Lys2188Glu |
Missense |
11/27 |
- |
1 |
13-32915058-A-AA |
c.6566dup |
p.Asn2189Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32915066-AA-A |
c.6574del |
p.Met2192Trpfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32915069-G-A |
c.6577G>A |
p.Glu2193Lys |
Missense |
11/27 |
- |
1 |
13-32915072-A-AA |
c.6580dup |
p.Ile2194Asnfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32915081-AA-A |
c.6589del |
p.Thr2197Leufs*9 |
Frameshift |
11/27 |
- |
1 |
13-32915082-C-CA |
c.6590_6591insA |
p.Glu2198* |
Nonsense |
11/27 |
- |
2 |
13-32915083-CTG-C |
c.6591_6592del |
p.Glu2198Asnfs*4 |
Frameshift |
11/27 |
- |
15 |
13-32915103-CC-C |
c.6611del |
p.Pro2204Leufs*2 |
Frameshift |
11/27 |
- |
2 |
13-32915103-C-CC |
c.6611dup |
p.Val2205Cysfs*20 |
Frameshift |
11/27 |
- |
1 |
13-32915105-G-A |
c.6613G>A |
p.Val2205Met |
Missense |
11/27 |
- |
1 |
13-32915114-AAA-A |
c.6622_6623del |
p.Asn2208Tyrfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32915115-AA-A |
c.6623del |
p.Asn2208Ilefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32915120-G-T |
c.6628G>T |
p.Glu2210* |
Nonsense |
11/27 |
- |
1 |
13-32915121-GAA-G |
c.6629_6630del |
p.Glu2210Glyfs*14 |
Frameshift |
11/27 |
- |
4 |
13-32915125-TTTGTT-T |
c.6633_6637del |
p.Cys2212Tyrfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32915129-T-C |
c.6637T>C |
p.Ser2213Pro |
Missense |
11/27 |
- |
1 |
13-32915130-TC-T |
c.6638del |
p.Ser2213Leufs*16 |
Frameshift |
11/27 |
- |
1 |
13-32915130-CT-AA |
c.6638_6639delinsAA |
p.Ser2213* |
Nonsense |
11/27 |
- |
1 |
13-32915132-A-AA |
c.6640dup |
p.Thr2214Asnfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32915133-C-CC |
c.6641dup |
p.Tyr2215Leufs*10 |
Frameshift |
11/27 |
- |
2 |
13-32915133-C-T |
c.6641C>T |
p.Thr2214Ile |
Missense |
11/27 |
- |
2 |
13-32915136-TACTC-T |
c.6644_6647del |
p.Tyr2215Serfs*13 |
Frameshift |
11/27 |
- |
2 |
13-32915136-A-AA |
c.6644dup |
p.Tyr2215* |
Nonsense |
11/27 |
- |
1 |
13-32915137-C-G |
c.6645C>G |
p.Tyr2215* |
Nonsense |
11/27 |
- |
1 |
13-32915137-AC-A |
c.6645del |
p.Ser2216Profs*13 |
Frameshift |
11/27 |
- |
2 |
13-32915142-AAAGAT-A |
c.6650_6654del |
p.Lys2217Ilefs*6 |
Frameshift |
11/27 |
- |
1 |
13-32915142-A-G |
c.6650A>G |
p.Lys2217Arg |
Missense |
11/27 |
- |
1 |
13-32915144-G-T |
c.6652G>T |
p.Asp2218Tyr |
Missense |
11/27 |
- |
1 |
13-32915144-AG-A |
c.6652del |
p.Asp2218Ilefs*11 |
Frameshift |
11/27 |
- |
1 |
13-32915148-C-G |
c.6656C>G |
p.Ser2219* |
Nonsense |
11/27 |
- |
8 |
13-32915150-AGAAAA-A |
c.6658_6662del |
p.Glu2220Leufs*3 |
Frameshift |
11/27 |
- |
1 |
13-32915157-A-G |
c.6665A>G |
p.Tyr2222Cys |
Missense |
11/27 |
- |
3 |
13-32915167-A-G |
c.6675A>G |
p.Thr2225Thr |
Synonymous |
11/27 |
- |
1 |
13-32915168-AGA-A |
c.6676_6677del |
p.Glu2226Serfs*6 |
Frameshift |
11/27 |
- |
2 |
13-32915169-GAA-G |
c.6677_6678del |
p.Glu2226Glyfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32915177-G-T |
c.6685G>T |
p.Glu2229* |
Nonsense |
11/27 |
- |
3 |
13-32915194-TT-T |
c.6702del |
p.Phe2234Leufs*7 |
Frameshift |
11/27 |
- |
1 |
13-32915198-G-A |
c.6706G>A |
p.Glu2236Lys |
Missense |
11/27 |
- |
3 |
13-32915207-G-T |
c.6715G>T |
p.Glu2239* |
Nonsense |
11/27 |
- |
1 |
13-32915215-A-AT |
c.6723_6724insT |
p.Asp2242* |
Nonsense |
11/27 |
- |
1 |
13-32915216-AGA-A |
c.6724_6725del |
p.Asp2242Phefs*2 |
Frameshift |
11/27 |
- |
5 |
13-32915217-A-T |
c.6725A>T |
p.Asp2242Val |
Missense |
11/27 |
- |
1 |
13-32915220-C-A |
c.6728C>A |
p.Ser2243Tyr |
Missense |
11/27 |
- |
1 |
13-32915222-A-T |
c.6730A>T |
p.Lys2244* |
Nonsense |
11/27 |
- |
1 |
13-32915231-A-G |
c.6739A>G |
p.Ser2247Gly |
Missense |
11/27 |
- |
2 |
13-32915235-CA-C |
c.6743del |
p.His2248Leufs*32 |
Frameshift |
11/27 |
- |
1 |
13-32915235-A-T |
c.6743A>T |
p.His2248Leu |
Missense |
11/27 |
- |
1 |
13-32915240-A-G |
c.6748A>G |
p.Thr2250Ala |
Missense |
11/27 |
- |
4 |
13-32915241-C-T |
c.6749C>T |
p.Thr2250Ile |
Missense |
11/27 |
- |
1 |
13-32915242-A-G |
c.6750A>G |
p.Thr2250Thr |
Synonymous |
11/27 |
- |
1 |
13-32915244-A-AA |
c.6752dup |
p.His2251Glnfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32915245-ATT-A |
c.6753_6754del |
p.Leu2253Phefs*7 |
Frameshift |
11/27 |
- |
1 |
13-32915246-T-TT |
c.6754dup |
p.Ser2252Phefs*9 |
Frameshift |
11/27 |
- |
1 |
13-32915253-TTT-T |
c.6761_6762del |
p.Phe2254Tyrfs*6 |
Frameshift |
11/27 |
- |
2 |
13-32915255-A-T |
c.6763A>T |
p.Thr2255Ser |
Missense |
11/27 |
- |
1 |
13-32915260-T-A |
c.6768T>A |
p.Cys2256* |
Nonsense |
11/27 |
- |
1 |
13-32915261-C-T |
c.6769C>T |
p.Pro2257Ser |
Missense |
11/27 |
- |
1 |
13-32915292-C-A |
c.6800C>A |
p.Ser2267* |
Nonsense |
11/27 |
- |
1 |
13-32915295-G-A |
c.6803G>A |
p.Arg2268Lys |
Missense |
11/27 |
- |
1 |
13-32915297-AATT-A |
c.6805_6807del |
p.Ile2269del |
InFrameDeletion |
11/27 |
- |
2 |
13-32915306-AA-A |
c.6814del |
p.Arg2272Glufs*8 |
Frameshift |
11/27 |
- |
2 |
13-32915308-GAAGAG-G |
c.6816_6820del |
p.Gly2274Alafs*17 |
Frameshift |
11/27 |
- |
1 |
13-32915313-G-T |
c.6821G>T |
p.Gly2274Val |
Missense |
11/27 |
- |
3 |
13-32915316-A-G |
c.6824A>G |
p.Glu2275Gly |
Missense |
11/27 |
- |
1 |
13-32915332-G-GA |
c.6840_6841insA |
p.Gly2281Argfs*12 |
SpliceDonorInsertion |
11/27 |
- |
3 |
13-32915332-G-GC |
c.6840_6841insC |
p.Gly2281Argfs*12 |
SpliceDonorInsertion |
11/27 |
- |
3 |
13-32915332-G-GT |
c.6840_6841insT |
p.Gly2281Trpfs*12 |
SpliceDonorInsertion |
11/27 |
- |
3 |
13-32915334-G-T |
c.6841+1G>T |
- |
IntronicSNV |
- |
11/26 |
1 |
13-32915413-ATTAA-A |
c.6841+80_6841+83del |
- |
IntronicDeletion |
- |
11/26 |
1 |
13-32915414-TT-T |
c.6841+81del |
- |
IntronicDeletion |
- |
11/26 |
1 |
13-32915524-C-A |
c.6841+191C>A |
- |
IntronicSNV |
- |
11/26 |
1 |
13-32916297-C-A |
c.6841+964C>A |
- |
IntronicSNV |
- |
11/26 |
2 |
13-32918675-T-A |
c.6842-20T>A |
- |
IntronicSNV |
- |
11/26 |
1 |
13-32918693-A-G |
c.6842-2A>G |
- |
IntronicSNV |
- |
11/26 |
1 |
13-32918695-G-A |
c.6842G>A |
p.Gly2281Glu |
Missense |
12/27 |
- |
1 |
13-32918695-G-T |
c.6842G>T |
p.Gly2281Val |
Missense |
12/27 |
- |
1 |
13-32918700-C-A |
c.6847C>A |
p.Pro2283Thr |
Missense |
12/27 |
- |
1 |
13-32918700-C-G |
c.6847C>G |
p.Pro2283Ala |
Missense |
12/27 |
- |
1 |
13-32918701-C-A |
c.6848C>A |
p.Pro2283His |
Missense |
12/27 |
- |
1 |
13-32918706-A-G |
c.6853A>G |
p.Ile2285Val |
Missense |
12/27 |
- |
12 |
13-32918720-A-T |
c.6867A>T |
p.Leu2289Phe |
Missense |
12/27 |
- |
1 |
13-32918727-TGAAT-T |
c.6874_6877del |
p.Glu2292Leufs*4 |
Frameshift |
12/27 |
- |
1 |
13-32918728-A-G |
c.6875A>G |
p.Glu2292Gly |
Missense |
12/27 |
- |
1 |
13-32918728-A-C |
c.6875A>C |
p.Glu2292Ala |
Missense |
12/27 |
- |
1 |
13-32918732-T-A |
c.6879T>A |
p.Phe2293Leu |
Missense |
12/27 |
- |
1 |
13-32918732-T-G |
c.6879T>G |
p.Phe2293Leu |
Missense |
12/27 |
- |
1 |
13-32918730-T-C |
c.6877T>C |
p.Phe2293Leu |
Missense |
12/27 |
- |
1 |
13-32918739-A-C |
c.6886A>C |
p.Ile2296Leu |
Missense |
12/27 |
- |
1 |
13-32918754-G-T |
c.6901G>T |
p.Glu2301* |
Nonsense |
12/27 |
- |
3 |
13-32918769-G-C |
c.6916G>C |
p.Ala2306Pro |
Missense |
12/27 |
- |
2 |
13-32918769-G-T |
c.6916G>T |
p.Ala2306Ser |
Missense |
12/27 |
- |
1 |
13-32918775-A-T |
c.6922A>T |
p.Lys2308* |
Nonsense |
12/27 |
- |
1 |
13-32918780-C-T |
c.6927C>T |
p.Ser2309Ser |
Synonymous |
12/27 |
- |
1 |
13-32918781-A-C |
c.6928A>C |
p.Thr2310Pro |
Missense |
12/27 |
- |
1 |
13-32918782-C-A |
c.6929C>A |
p.Thr2310Asn |
Missense |
12/27 |
- |
1 |
13-32918788-A-T |
c.6935A>T |
p.Asp2312Val |
Missense |
12/27 |
- |
6 |
13-32918791-G-A |
c.6937+1G>A |
- |
IntronicSNV |
- |
12/26 |
2 |
13-32918791-G-T |
c.6937+1G>T |
- |
IntronicSNV |
- |
12/26 |
1 |
13-32918967-G-A |
c.6937+177G>A |
- |
IntronicSNV |
- |
12/26 |
1 |
13-32919384-T-G |
c.6937+594T>G |
- |
IntronicSNV |
- |
12/26 |
7 |
13-32919637-T-G |
c.6937+847T>G |
- |
IntronicSNV |
- |
12/26 |
1 |
13-32920618-G-A |
c.6938-346G>A |
- |
IntronicSNV |
- |
12/26 |
4 |
13-32920963-G-A |
c.6938-1G>A |
- |
IntronicSNV |
- |
12/26 |
1 |
13-32920964-GG-G |
c.6938del |
p.Gly2313Alafs*3 |
Frameshift |
13/27 |
- |
1 |
13-32920964-G-C |
c.6938G>C |
p.Gly2313Ala |
Missense |
13/27 |
- |
1 |
13-32920965-GC-G |
c.6939del |
p.Thr2314Glnfs*2 |
Frameshift |
13/27 |
- |
1 |
13-32920969-A-C |
c.6943A>C |
p.Ile2315Leu |
Missense |
13/27 |
- |
1 |
13-32920970-ATAAA-A |
c.6944_6947del |
p.Ile2315Lysfs*12 |
Frameshift |
13/27 |
- |
4 |
13-32920978-C-T |
c.6952C>T |
p.Arg2318* |
Nonsense |
13/27 |
- |
29 |
13-32920979-G-A |
c.6953G>A |
p.Arg2318Gln |
Missense |
13/27 |
- |
4 |
13-32920985-T-A |
c.6959T>A |
p.Leu2320* |
Nonsense |
13/27 |
- |
1 |
13-32920992-G-T |
c.6966G>T |
p.Met2322Ile |
Missense |
13/27 |
- |
2 |
13-32920996-C-G |
c.6970C>G |
p.His2324Asp |
Missense |
13/27 |
- |
1 |
13-32921003-C-G |
c.6977C>G |
p.Ser2326Cys |
Missense |
13/27 |
- |
1 |
13-32921012-C-T |
c.6986C>T |
p.Pro2329Leu |
Missense |
13/27 |
- |
2 |
13-32921013-CGATTACC-C |
c.6987_6993del |
p.Ile2330Valfs*35 |
Frameshift |
13/27 |
- |
1 |
13-32921014-A-G |
c.6988A>G |
p.Ile2330Val |
Missense |
13/27 |
- |
3 |
13-32921021-G-T |
c.6995G>T |
p.Cys2332Phe |
Missense |
13/27 |
- |
1 |
13-32921024-T-TT |
c.6998dup |
p.Pro2334Thrfs*6 |
Frameshift |
13/27 |
- |
2 |
13-32921031-T-TG |
c.7005_7006insG |
p.Arg2336Alafs*4 |
SpliceDonorInsertion |
13/27 |
- |
1 |
13-32921032-C-T |
c.7006C>T |
p.Arg2336Cys |
Missense |
13/27 |
- |
5 |
13-32921032-TC-T |
c.7006del |
p.Arg2336Alafs*31 |
Frameshift |
13/27 |
- |
1 |
13-32921033-G-T |
c.7007G>T |
p.Arg2336Leu |
Missense |
13/27 |
- |
6 |
13-32921033-G-C |
c.7007G>C |
p.Arg2336Pro |
Missense |
13/27 |
- |
10 |
13-32921033-G-A |
c.7007G>A |
p.Arg2336His |
Missense |
13/27 |
- |
30 |
13-32921034-G-C |
c.7007+1G>C |
- |
IntronicSNV |
- |
13/26 |
4 |
13-32921038-G-A |
c.7007+5G>A |
- |
IntronicSNV |
- |
13/26 |
2 |
13-32921038-G-C |
c.7007+5G>C |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32921086-G-A |
c.7007+53G>A |
- |
IntronicSNV |
- |
13/26 |
2 |
13-32921944-A-G |
c.7007+911A>G |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32922136-C-T |
c.7007+1103C>T |
- |
IntronicSNV |
- |
13/26 |
3 |
13-32922331-A-C |
c.7007+1298A>C |
- |
IntronicSNV |
- |
13/26 |
3 |
13-32923690-C-T |
c.7007+2657C>T |
- |
IntronicSNV |
- |
13/26 |
5 |
13-32923724-G-A |
c.7007+2691G>A |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32927017-G-A |
c.7008-1981G>A |
- |
IntronicSNV |
- |
13/26 |
2 |
13-32927894-C-T |
c.7008-1104C>T |
- |
IntronicSNV |
- |
13/26 |
4 |
13-32927894-C-A |
c.7008-1104C>A |
- |
IntronicSNV |
- |
13/26 |
4 |
13-32928202-A-G |
c.7008-796A>G |
- |
IntronicSNV |
- |
13/26 |
2 |
13-32928936-A-G |
c.7008-62A>G |
- |
IntronicSNV |
- |
13/26 |
6 |
13-32928993-T-C |
c.7008-5T>C |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32928995-C-G |
c.7008-3C>G |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32928996-A-T |
c.7008-2A>T |
- |
IntronicSNV |
- |
13/26 |
4 |
13-32928997-G-A |
c.7008-1G>A |
- |
IntronicSNV |
- |
13/26 |
1 |
13-32928998-C-CTTCA |
c.7008_7009insTTCA |
p.Thr2337Phefs*4 |
SpliceAcceptorInsertion |
14/27 |
- |
1 |
13-32928999-A-AA |
c.7009dup |
p.Thr2337Asnfs*3 |
SpliceAcceptorInsertion |
14/27 |
- |
1 |
13-32928999-A-G |
c.7009A>G |
p.Thr2337Ala |
Missense |
14/27 |
- |
1 |
13-32928999-CACAACTAAGGAACGTCAAGAGATACAGAATCCAAATTTTACCGCACCTGGTCAAGAATT-C |
c.7009_7067del |
p.Thr2337Serfs*3 |
InFrameDeletion |
14/27 |
- |
1 |
13-32929000-C-T |
c.7010C>T |
p.Thr2337Ile |
Missense |
14/27 |
- |
1 |
13-32929000-ACA-A |
c.7010_7011del |
p.Thr2337Asnfs*2 |
Frameshift |
14/27 |
- |
1 |
13-32929003-ACTAAGGAACGTCAAGAGATACAGAATCCAA-A |
c.7013_7042del |
p.Thr2338_Pro2347del |
InFrameDeletion |
14/27 |
- |
1 |
13-32929007-G-C |
c.7017G>C |
p.Lys2339Asn |
Missense |
14/27 |
- |
1 |
13-32929007-G-A |
c.7017G>A |
p.Lys2339Lys |
Synonymous |
14/27 |
- |
1 |
13-32929011-C-T |
c.7021C>T |
p.Arg2341Cys |
Missense |
14/27 |
- |
3 |
13-32929014-C-T |
c.7024C>T |
p.Gln2342* |
Nonsense |
14/27 |
- |
4 |
13-32929020-A-G |
c.7030A>G |
p.Ile2344Val |
Missense |
14/27 |
- |
1 |
13-32929025-AGAATCCAAATTTTACCGCACCTGGTCAAGA-A |
c.7035_7064del |
p.Asn2346_Glu2355del |
InFrameDeletion |
14/27 |
- |
1 |
13-32929027-A-G |
c.7037A>G |
p.Asn2346Ser |
Missense |
14/27 |
- |
1 |
13-32929030-C-A |
c.7040C>A |
p.Pro2347Gln |
Missense |
14/27 |
- |
1 |
13-32929040-C-T |
c.7050C>T |
p.Thr2350Thr |
Synonymous |
14/27 |
- |
1 |
13-32929041-G-C |
c.7051G>C |
p.Ala2351Pro |
Missense |
14/27 |
- |
1 |
13-32929041-G-A |
c.7051G>A |
p.Ala2351Thr |
Missense |
14/27 |
- |
2 |
13-32929042-C-G |
c.7052C>G |
p.Ala2351Gly |
Missense |
14/27 |
- |
8 |
13-32929045-C-T |
c.7055C>T |
p.Pro2352Leu |
Missense |
14/27 |
- |
1 |
13-32929047-G-C |
c.7057G>C |
p.Gly2353Arg |
Missense |
14/27 |
- |
7 |
13-32929050-C-T |
c.7060C>T |
p.Gln2354* |
Nonsense |
14/27 |
- |
3 |
13-32929053-G-T |
c.7063G>T |
p.Glu2355* |
Nonsense |
14/27 |
- |
1 |
13-32929055-A-C |
c.7065A>C |
p.Glu2355Asp |
Missense |
14/27 |
- |
1 |
13-32929055-AATT-A |
c.7065_7067del |
p.Glu2355_Phe2356delinsAsp |
MultiAAMissense |
14/27 |
- |
1 |
13-32929055-AA-A |
c.7065del |
p.Glu2355Aspfs*12 |
Frameshift |
14/27 |
- |
1 |
13-32929059-TCT-T |
c.7069_7070del |
p.Leu2357Valfs*2 |
Frameshift |
14/27 |
- |
9 |
13-32929062-T-C |
c.7072T>C |
p.Ser2358Pro |
Missense |
14/27 |
- |
1 |
13-32929071-C-T |
c.7081C>T |
p.His2361Tyr |
Missense |
14/27 |
- |
1 |
13-32929081-A-T |
c.7091A>T |
p.Glu2364Val |
Missense |
14/27 |
- |
1 |
13-32929083-C-A |
c.7093C>A |
p.His2365Asn |
Missense |
14/27 |
- |
1 |
13-32929092-T-G |
c.7102T>G |
p.Leu2368Val |
Missense |
14/27 |
- |
1 |
13-32929100-A-AA |
c.7110dup |
p.Ser2371Ilefs*21 |
Frameshift |
14/27 |
- |
2 |
13-32929100-AA-A |
c.7110del |
p.Lys2370Asnfs*6 |
Frameshift |
14/27 |
- |
8 |
13-32929105-C-G |
c.7115C>G |
p.Ser2372* |
Nonsense |
14/27 |
- |
2 |
13-32929108-G-C |
c.7118G>C |
p.Ser2373Thr |
Missense |
14/27 |
- |
1 |
13-32929122-T-G |
c.7132T>G |
p.Ser2378Ala |
Missense |
14/27 |
- |
1 |
13-32929123-C-G |
c.7133C>G |
p.Ser2378* |
Nonsense |
14/27 |
- |
3 |
13-32929132-CC-C |
c.7142del |
p.Pro2381Hisfs*13 |
Frameshift |
14/27 |
- |
2 |
13-32929139-T-A |
c.7149T>A |
p.Tyr2383* |
Nonsense |
14/27 |
- |
1 |
13-32929140-C-A |
c.7150C>A |
p.Gln2384Lys |
Missense |
14/27 |
- |
5 |
13-32929141-CAA-C |
c.7151_7152del |
p.Gln2384Argfs*7 |
Frameshift |
14/27 |
- |
1 |
13-32929147-C-A |
c.7157C>A |
p.Ser2386Tyr |
Missense |
14/27 |
- |
1 |
13-32929149-G-C |
c.7159G>C |
p.Ala2387Pro |
Missense |
14/27 |
- |
1 |
13-32929160-T-G |
c.7170T>G |
p.Asn2390Lys |
Missense |
14/27 |
- |
1 |
13-32929161-G-T |
c.7171G>T |
p.Glu2391* |
Nonsense |
14/27 |
- |
1 |
13-32929166-A-T |
c.7176A>T |
p.Lys2392Asn |
Missense |
14/27 |
- |
1 |
13-32929166-A-C |
c.7176A>C |
p.Lys2392Asn |
Missense |
14/27 |
- |
1 |
13-32929167-A-G |
c.7177A>G |
p.Met2393Val |
Missense |
14/27 |
- |
1 |
13-32929168-ATG-A |
c.7178_7179del |
p.Met2393Lysfs*18 |
Frameshift |
14/27 |
- |
2 |
13-32929170-A-T |
c.7180A>T |
p.Arg2394* |
Nonsense |
14/27 |
- |
14 |
13-32929172-A-G |
c.7182A>G |
p.Arg2394Arg |
Synonymous |
14/27 |
- |
1 |
13-32929178-G-T |
c.7188G>T |
p.Leu2396Phe |
Missense |
14/27 |
- |
3 |
13-32929183-C-G |
c.7193C>G |
p.Thr2398Ser |
Missense |
14/27 |
- |
1 |
13-32929183-C-T |
c.7193C>T |
p.Thr2398Ile |
Missense |
14/27 |
- |
1 |
13-32929185-A-G |
c.7195A>G |
p.Thr2399Ala |
Missense |
14/27 |
- |
1 |
13-32929188-G-GT |
c.7198_7199insT |
p.Gly2400Valfs*12 |
Frameshift |
14/27 |
- |
1 |
13-32929193-A-G |
c.7203A>G |
p.Arg2401Arg |
Synonymous |
14/27 |
- |
1 |
13-32929201-AAA-A |
c.7211_7212del |
p.Lys2404Serfs*7 |
Frameshift |
14/27 |
- |
2 |
13-32929206-TT-GA |
c.7216_7217delinsGA |
p.Phe2406Asp |
Missense |
14/27 |
- |
1 |
13-32929208-T-G |
c.7218T>G |
p.Phe2406Leu |
Missense |
14/27 |
- |
4 |
13-32929207-T-G |
c.7217T>G |
p.Phe2406Cys |
Missense |
14/27 |
- |
1 |
13-32929215-C-T |
c.7225C>T |
p.Pro2409Ser |
Missense |
14/27 |
- |
2 |
13-32929220-TT-T |
c.7230del |
p.Phe2410Leufs*59 |
Frameshift |
14/27 |
- |
2 |
13-32929222-A-C |
c.7232A>C |
p.Lys2411Thr |
Missense |
14/27 |
- |
7 |
13-32929224-AA-A |
c.7234del |
p.Thr2412Leufs*57 |
Frameshift |
14/27 |
- |
1 |
13-32929224-A-AG |
c.7234_7235insG |
p.Thr2412Serfs*2 |
Frameshift |
14/27 |
- |
3 |
13-32929225-C-CG |
c.7235_7236insG |
p.Lys2413* |
Nonsense |
14/27 |
- |
10 |
13-32929231-C-T |
c.7241C>T |
p.Ser2414Leu |
Missense |
14/27 |
- |
2 |
13-32929232-A-T |
c.7242A>T |
p.Ser2414Ser |
Synonymous |
14/27 |
- |
35 |
13-32929232-A-G |
c.7242A>G |
p.Ser2414Ser |
Synonymous |
14/27 |
- |
46 |
13-32929233-C-T |
c.7243C>T |
p.His2415Tyr |
Missense |
14/27 |
- |
1 |
13-32929234-A-G |
c.7244A>G |
p.His2415Arg |
Missense |
14/27 |
- |
1 |
13-32929241-ACA-A |
c.7251_7252del |
p.His2417Glnfs*3 |
Frameshift |
14/27 |
- |
2 |
13-32929242-A-G |
c.7252A>G |
p.Arg2418Gly |
Missense |
14/27 |
- |
3 |
13-32929244-GAG-G |
c.7254_7255del |
p.Arg2418Serfs*2 |
Frameshift |
14/27 |
- |
1 |
13-32929248-G-T |
c.7258G>T |
p.Glu2420* |
Nonsense |
14/27 |
- |
1 |
13-32929250-A-AA |
c.7260dup |
p.Gln2421Thrfs*4 |
Frameshift |
14/27 |
- |
1 |
13-32929251-C-G |
c.7261C>G |
p.Gln2421Glu |
Missense |
14/27 |
- |
1 |
13-32929256-T-A |
c.7266T>A |
p.Cys2422* |
Nonsense |
14/27 |
- |
1 |
13-32929268-T-A |
c.7278T>A |
p.Ile2426Ile |
Synonymous |
14/27 |
- |
1 |
13-32929268-T-C |
c.7278T>C |
p.Ile2426Ile |
Synonymous |
14/27 |
- |
1 |
13-32929284-A-G |
c.7294A>G |
p.Arg2432Gly |
Missense |
14/27 |
- |
1 |
13-32929286-A-G |
c.7296A>G |
p.Arg2432Arg |
Synonymous |
14/27 |
- |
1 |
13-32929291-A-C |
c.7301A>C |
p.Lys2434Thr |
Missense |
14/27 |
- |
3 |
13-32929293-C-T |
c.7303C>T |
p.Gln2435* |
Nonsense |
14/27 |
- |
2 |
13-32929297-A-T |
c.7307A>T |
p.Asn2436Ile |
Missense |
14/27 |
- |
6 |
13-32929298-AC-A |
c.7308del |
p.Asn2436Lysfs*33 |
Frameshift |
14/27 |
- |
2 |
13-32929302-G-A |
c.7312G>A |
p.Asp2438Asn |
Missense |
14/27 |
- |
1 |
13-32929306-GG-G |
c.7316del |
p.Gly2439Aspfs*30 |
Frameshift |
14/27 |
- |
1 |
13-32929309-A-G |
c.7319A>G |
p.His2440Arg |
Missense |
14/27 |
- |
2 |
13-32929312-GG-G |
c.7322del |
p.Gly2441Alafs*28 |
Frameshift |
14/27 |
- |
1 |
13-32929320-G-T |
c.7330G>T |
p.Asp2444Tyr |
Missense |
14/27 |
- |
1 |
13-32929326-A-G |
c.7336A>G |
p.Lys2446Glu |
Missense |
14/27 |
- |
2 |
13-32929329-A-G |
c.7339A>G |
p.Asn2447Asp |
Missense |
14/27 |
- |
1 |
13-32929344-A-G |
c.7354A>G |
p.Asn2452Asp |
Missense |
14/27 |
- |
1 |
13-32929345-AA-A |
c.7355del |
p.Asn2452Metfs*17 |
Frameshift |
14/27 |
- |
1 |
13-32929350-GA-G |
c.7360del |
p.Ile2454Phefs*15 |
Frameshift |
14/27 |
- |
1 |
13-32929368-AAACAACTCCAATCAAGCAGTAGCTGTAACT-A |
c.7378_7407del |
p.Asn2460_Thr2469del |
InFrameDeletion |
14/27 |
- |
1 |
13-32929369-AACAA-A |
c.7379_7382del |
p.Asn2460Thrfs*8 |
Frameshift |
14/27 |
- |
2 |
13-32929383-G-A |
c.7393G>A |
p.Ala2465Thr |
Missense |
14/27 |
- |
1 |
13-32929387-T-C |
c.7397T>C |
p.Ala2466Ala |
Missense |
14/27 |
- |
16 |
13-32929392-TGTAACTTTCACAAAGTGTGAAGAAGAACCTT-T |
c.7402_7432del |
p.Val2468* |
Frameshift |
14/27 |
- |
1 |
13-32929399-T-TT |
c.7409dup |
p.Thr2471Hisfs*4 |
Frameshift |
14/27 |
- |
5 |
13-32929401-A-T |
c.7411A>T |
p.Thr2471Ser |
Missense |
14/27 |
- |
1 |
13-32929403-A-T |
c.7413A>T |
p.Thr2471Thr |
Synonymous |
14/27 |
- |
1 |
13-32929403-A-C |
c.7413A>C |
p.Thr2471Thr |
Synonymous |
14/27 |
- |
1 |
13-32929403-A-G |
c.7413A>G |
p.Thr2471Thr |
Synonymous |
14/27 |
- |
1 |
13-32929405-A-C |
c.7415A>C |
p.Lys2472Thr |
Missense |
14/27 |
- |
2 |
13-32929408-G-A |
c.7418G>A |
p.Cys2473Tyr |
Missense |
14/27 |
- |
2 |
13-32929409-GTG-G |
c.7419_7420del |
p.Cys2473* |
Frameshift |
14/27 |
- |
1 |
13-32929416-AGAA-A |
c.7426_7428del |
p.Glu2476del |
InFrameDeletion |
14/27 |
- |
1 |
13-32929418-A-G |
c.7428A>G |
p.Glu2476Glu |
Synonymous |
14/27 |
- |
1 |
13-32929424-A-C |
c.7434A>C |
p.Leu2478Phe |
Missense |
14/27 |
- |
1 |
13-32929426-G-C |
c.7435+1G>C |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32929428-A-G |
c.7435+3A>G |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32929430-T-C |
c.7435+5T>C |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32929431-G-A |
c.7435+6G>A |
- |
IntronicSNV |
- |
14/26 |
3 |
13-32929432-T-G |
c.7435+7T>G |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32929435-G-A |
c.7435+10G>A |
- |
IntronicSNV |
- |
14/26 |
2 |
13-32929478-C-T |
c.7435+53C>T |
- |
IntronicSNV |
- |
14/26 |
3 |
13-32930543-C-T |
c.7436-22C>T |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32930551-T-G |
c.7436-14T>G |
- |
IntronicSNV |
- |
14/26 |
2 |
13-32930561-A-G |
c.7436-4A>G |
- |
IntronicSNV |
- |
14/26 |
2 |
13-32930561-A-T |
c.7436-4A>T |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32930563-A-T |
c.7436-2A>T |
- |
IntronicSNV |
- |
14/26 |
2 |
13-32930563-A-G |
c.7436-2A>G |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32930564-G-A |
c.7436-1G>A |
- |
IntronicSNV |
- |
14/26 |
1 |
13-32930565-GATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAA-G |
c.7436_7494del |
p.Asp2479Alafs*40 |
Unclassified |
15/27 |
- |
7 |
13-32930565-GA-G |
c.7436del |
p.Asp2479Valfs*2 |
Frameshift |
15/27 |
- |
1 |
13-32930567-T-G |
c.7438T>G |
p.Leu2480Val |
Missense |
15/27 |
- |
1 |
13-32930567-TTTAATTACAAGTCTTCAGAATGCCAGAGAT-T |
c.7438_7467del |
p.Leu2480_Asp2489del |
InFrameDeletion |
15/27 |
- |
1 |
13-32930572-TT-T |
c.7443del |
p.Thr2482Glnfs*42 |
Frameshift |
15/27 |
- |
1 |
13-32930576-A-G |
c.7447A>G |
p.Ser2483Gly |
Missense |
15/27 |
- |
2 |
13-32930577-G-A |
c.7448G>A |
p.Ser2483Asn |
Missense |
15/27 |
- |
2 |
13-32930587-T-A |
c.7458T>A |
p.Asn2486Lys |
Missense |
15/27 |
- |
1 |
13-32930587-T-G |
c.7458T>G |
p.Asn2486Lys |
Missense |
15/27 |
- |
1 |
13-32930591-A-G |
c.7462A>G |
p.Arg2488Gly |
Missense |
15/27 |
- |
4 |
13-32930592-AGAGATATACAGGATATGCGAATTAAGAAGA-A |
c.7463_7492del |
p.Arg2488_Lys2497del |
InFrameDeletion |
15/27 |
- |
1 |
13-32930592-G-A |
c.7463G>A |
p.Arg2488Lys |
Missense |
15/27 |
- |
2 |
13-32930593-A-ATA |
c.7464_7465insTA |
p.Asp2489* |
Nonsense |
15/27 |
- |
1 |
13-32930593-A-C |
c.7464A>C |
p.Arg2488Ser |
Missense |
15/27 |
- |
1 |
13-32930595-A-G |
c.7466A>G |
p.Asp2489Gly |
Missense |
15/27 |
- |
1 |
13-32930596-T-C |
c.7467T>C |
p.Asp2489Asp |
Synonymous |
15/27 |
- |
1 |
13-32930597-ATA-TAT |
c.7468_7470inv |
p.Ile2490Tyr |
Missense |
15/27 |
- |
1 |
13-32930598-T-C |
c.7469T>C |
p.Ile2490Thr |
Missense |
15/27 |
- |
26 |
13-32930599-A-G |
c.7470A>G |
p.Ile2490Met |
Missense |
15/27 |
- |
1 |
13-32930600-C-T |
c.7471C>T |
p.Gln2491* |
Nonsense |
15/27 |
- |
3 |
13-32930600-AC-A |
c.7471del |
p.Gln2491Argfs*33 |
Frameshift |
15/27 |
- |
1 |
13-32930601-A-G |
c.7472A>G |
p.Gln2491Arg |
Missense |
15/27 |
- |
1 |
13-32930603-GGA-G |
c.7474_7475del |
p.Asp2492Tyrfs*4 |
Frameshift |
15/27 |
- |
1 |
13-32930609-C-A |
c.7480C>A |
p.Arg2494Arg |
Synonymous |
15/27 |
- |
1 |
13-32930609-C-T |
c.7480C>T |
p.Arg2494* |
Nonsense |
15/27 |
- |
43 |
13-32930610-G-A |
c.7481G>A |
p.Arg2494Gln |
Missense |
15/27 |
- |
2 |
13-32930611-A-ACC |
c.7482_7483insCC |
p.Ile2495Profs*30 |
Frameshift |
15/27 |
- |
1 |
13-32930613-T-C |
c.7484T>C |
p.Ile2495Thr |
Missense |
15/27 |
- |
1 |
13-32930614-T-TT |
c.7485dup |
p.Lys2496* |
Nonsense |
15/27 |
- |
1 |
13-32930616-A-AA |
c.7487dup |
p.Lys2497Glufs*42 |
Frameshift |
15/27 |
- |
1 |
13-32930621-A-G |
c.7492A>G |
p.Lys2498Glu |
Missense |
15/27 |
- |
3 |
13-32930624-C-T |
c.7495C>T |
p.Gln2499* |
Nonsense |
15/27 |
- |
1 |
13-32930630-C-T |
c.7501C>T |
p.Gln2501* |
Nonsense |
15/27 |
- |
3 |
13-32930633-CGC-TGA |
c.7504_7506delinsTGA |
p.Arg2502* |
Nonsense |
15/27 |
- |
1 |
13-32930633-C-T |
c.7504C>T |
p.Arg2502Cys |
Missense |
15/27 |
- |
6 |
13-32930634-G-A |
c.7505G>A |
p.Arg2502His |
Missense |
15/27 |
- |
7 |
13-32930635-GC-G |
c.7506del |
p.Val2503Serfs*21 |
Frameshift |
15/27 |
- |
1 |
13-32930636-G-A |
c.7507G>A |
p.Val2503Ile |
Missense |
15/27 |
- |
4 |
13-32930642-C-T |
c.7513C>T |
p.Pro2505Ser |
Missense |
15/27 |
- |
1 |
13-32930648-GCCAG-G |
c.7519_7522del |
p.Pro2507Alafs*16 |
Frameshift |
15/27 |
- |
1 |
13-32930650-A-G |
c.7521A>G |
p.Pro2507Pro |
Synonymous |
15/27 |
- |
1 |
13-32930651-G-C |
c.7522G>C |
p.Gly2508Arg |
Missense |
15/27 |
- |
1 |
13-32930651-G-A |
c.7522G>A |
p.Gly2508Ser |
Missense |
15/27 |
- |
15 |
13-32930652-GGCAG-G |
c.7523_7526del |
p.Gly2508Valfs*15 |
Frameshift |
15/27 |
- |
1 |
13-32930655-G-A |
c.7526G>A |
p.Ser2509Asn |
Missense |
15/27 |
- |
1 |
13-32930657-C-A |
c.7528C>A |
p.Leu2510Met |
Missense |
15/27 |
- |
1 |
13-32930658-T-C |
c.7529T>C |
p.Leu2510Pro |
Missense |
15/27 |
- |
8 |
13-32930659-TGT-T |
c.7530_7531del |
p.Tyr2511Serfs*27 |
Frameshift |
15/27 |
- |
1 |
13-32930663-C-T |
c.7534C>T |
p.Leu2512Phe |
Missense |
15/27 |
- |
4 |
13-32930669-A-G |
c.7540A>G |
p.Lys2514Glu |
Missense |
15/27 |
- |
1 |
13-32930672-A-AA |
c.7543dup |
p.Thr2515Asnfs*24 |
Frameshift |
15/27 |
- |
4 |
13-32930673-C-T |
c.7544C>T |
p.Thr2515Ile |
Missense |
15/27 |
- |
13 |
13-32930674-A-AA |
c.7545dup |
p.Ser2516Ilefs*23 |
Frameshift |
15/27 |
- |
1 |
13-32930676-C-G |
c.7547C>G |
p.Ser2516Cys |
Missense |
15/27 |
- |
1 |
13-32930681-C-T |
c.7552C>T |
p.Leu2518Leu |
Synonymous |
15/27 |
- |
1 |
13-32930682-T-TT |
c.7553dup |
p.Pro2519Alafs*20 |
Frameshift |
15/27 |
- |
1 |
13-32930685-C-CC |
c.7556dup |
p.Arg2520Serfs*19 |
Frameshift |
15/27 |
- |
1 |
13-32930687-C-T |
c.7558C>T |
p.Arg2520* |
Nonsense |
15/27 |
- |
23 |
13-32930688-G-A |
c.7559G>A |
p.Arg2520Gln |
Missense |
15/27 |
- |
3 |
13-32930690-AATCTCTCTGAAAGCAGCAGTAGGAGGCCAA-A |
c.7561_7590del |
p.Ile2521_Gln2530del |
InFrameDeletion |
15/27 |
- |
1 |
13-32930691-T-C |
c.7562T>C |
p.Ile2521Thr |
Missense |
15/27 |
- |
1 |
13-32930694-C-T |
c.7565C>T |
p.Ser2522Phe |
Missense |
15/27 |
- |
3 |
13-32930696-TCT-T |
c.7567_7568del |
p.Leu2523Glufs*15 |
Frameshift |
15/27 |
- |
1 |
13-32930704-CA-C |
c.7575del |
p.Ala2526Glnfs*2 |
Frameshift |
15/27 |
- |
1 |
13-32930708-AG-A |
c.7579del |
p.Val2527* |
Frameshift |
15/27 |
- |
2 |
13-32930709-T-C |
c.7580T>C |
p.Val2527Ala |
Missense |
15/27 |
- |
1 |
13-32930715-GGCCAAGTTCCCTCTGCGTGTTCTCATAAAC-G |
c.7586_7615del |
p.Gly2529_Gln2539delinsGlu |
MultiAAMissense |
15/27 |
- |
1 |
13-32930717-C-T |
c.7588C>T |
p.Gln2530* |
Nonsense |
15/27 |
- |
3 |
13-32930724-C-T |
c.7595C>T |
p.Pro2532Leu |
Missense |
15/27 |
- |
1 |
13-32930727-C-G |
c.7598C>G |
p.Ser2533Cys |
Missense |
15/27 |
- |
1 |
13-32930730-C-T |
c.7601C>T |
p.Ala2534Val |
Missense |
15/27 |
- |
5 |
13-32930731-G-A |
c.7602G>A |
p.Ala2534Ala |
Synonymous |
15/27 |
- |
1 |
13-32930731-G-C |
c.7602G>C |
p.Ala2534Ala |
Synonymous |
15/27 |
- |
1 |
13-32930731-G-T |
c.7602G>T |
p.Ala2534Ala |
Synonymous |
15/27 |
- |
1 |
13-32930734-T-A |
c.7605T>A |
p.Cys2535* |
Nonsense |
15/27 |
- |
1 |
13-32930738-C-T |
c.7609C>T |
p.His2537Tyr |
Missense |
15/27 |
- |
1 |
13-32930740-ATAAAC-A |
c.7611_7615del |
p.His2537Glnfs*9 |
Frameshift |
15/27 |
- |
1 |
13-32930744-C-T |
c.7615C>T |
p.Gln2539* |
Nonsense |
15/27 |
- |
1 |
13-32930746-G-A |
c.7617G>A |
p.Gln2539Gln |
Synonymous |
15/27 |
- |
1 |
13-32930747-G-A |
c.7617+1G>A |
- |
IntronicSNV |
- |
15/26 |
5 |
13-32930747-G-T |
c.7617+1G>T |
- |
IntronicSNV |
- |
15/26 |
3 |
13-32930748-T-G |
c.7617+2T>G |
- |
IntronicSNV |
- |
15/26 |
4 |
13-32930755-TTTGT-T |
c.7617+9_7617+12del |
- |
IntronicDeletion |
- |
15/26 |
1 |
13-32931613-TCACAGTACCT-T |
c.7618-266_7618-257del |
- |
IntronicDeletion |
- |
15/26 |
1 |
13-32931868-TA-T |
c.7618-11del |
- |
IntronicDeletion |
- |
15/26 |
1 |
13-32931877-A-G |
c.7618-2A>G |
- |
IntronicSNV |
- |
15/26 |
5 |
13-32931877-A-T |
c.7618-2A>T |
- |
IntronicSNV |
- |
15/26 |
2 |
13-32931878-G-A |
c.7618-1G>A |
- |
IntronicSNV |
- |
15/26 |
5 |
13-32931878-G-C |
c.7618-1G>C |
- |
IntronicSNV |
- |
15/26 |
2 |
13-32931881-TGTATACGTATGGCGTTTCTAAACATTGCAT-T |
c.7620_7649del |
p.Tyr2541_Ile2550del |
InFrameDeletion |
16/27 |
- |
1 |
13-32931886-C-G |
c.7625C>G |
p.Thr2542Arg |
Missense |
16/27 |
- |
1 |
13-32931886-C-T |
c.7625C>T |
p.Thr2542Met |
Missense |
16/27 |
- |
1 |
13-32931887-G-A |
c.7626G>A |
p.Thr2542Thr |
Synonymous |
16/27 |
- |
1 |
13-32931889-A-G |
c.7628A>G |
p.Tyr2543Cys |
Missense |
16/27 |
- |
2 |
13-32931891-G-A |
c.7630G>A |
p.Gly2544Ser |
Missense |
16/27 |
- |
1 |
13-32931892-G-A |
c.7631G>A |
p.Gly2544Asp |
Missense |
16/27 |
- |
2 |
13-32931897-T-C |
c.7636T>C |
p.Ser2546Pro |
Missense |
16/27 |
- |
3 |
13-32931907-TGCATAAAAATTAACAGCAAAAATGCAGAGT-T |
c.7646_7675del |
p.Cys2549_Glu2558del |
InFrameDeletion |
16/27 |
- |
1 |
13-32931910-T-C |
c.7649T>C |
p.Ile2550Thr |
Missense |
16/27 |
- |
1 |
13-32931915-A-AA |
c.7654dup |
p.Ile2552Asnfs*2 |
Frameshift |
16/27 |
- |
5 |
13-32931916-ATTAA-A |
c.7655_7658del |
p.Ile2552Thrfs*95 |
Frameshift |
16/27 |
- |
3 |
13-32931934-GAG-G |
c.7673_7674del |
p.Glu2558Valfs*7 |
Frameshift |
16/27 |
- |
2 |
13-32931937-C-G |
c.7676C>G |
p.Ser2559Cys |
Missense |
16/27 |
- |
1 |
13-32931940-TTT-T |
c.7679_7680del |
p.Phe2560Serfs*5 |
Frameshift |
16/27 |
- |
2 |
13-32931941-T-TT |
c.7680dup |
p.Gln2561Serfs*5 |
Frameshift |
16/27 |
- |
3 |
13-32931942-C-T |
c.7681C>T |
p.Gln2561* |
Nonsense |
16/27 |
- |
2 |
13-32931943-A-C |
c.7682A>C |
p.Gln2561Pro |
Missense |
16/27 |
- |
2 |
13-32931943-A-G |
c.7682A>G |
p.Gln2561Arg |
Missense |
16/27 |
- |
1 |
13-32931945-T-C |
c.7684T>C |
p.Phe2562Leu |
Missense |
16/27 |
- |
2 |
13-32931946-T-G |
c.7685T>G |
p.Phe2562Cys |
Missense |
16/27 |
- |
1 |
13-32931948-C-A |
c.7687C>A |
p.His2563Asn |
Missense |
16/27 |
- |
1 |
13-32931958-A-AA |
c.7697dup |
p.Asp2566Glufs*5 |
Frameshift |
16/27 |
- |
2 |
13-32931959-T-G |
c.7698T>G |
p.Asp2566Glu |
Missense |
16/27 |
- |
1 |
13-32931966-G-A |
c.7705G>A |
p.Gly2569Ser |
Missense |
16/27 |
- |
1 |
13-32931968-T-TCT |
c.7707_7708insCT |
p.Lys2570Leufs*79 |
Frameshift |
16/27 |
- |
1 |
13-32931970-A-C |
c.7709A>C |
p.Lys2570Thr |
Missense |
16/27 |
- |
1 |
13-32931973-A-G |
c.7712A>G |
p.Glu2571Gly |
Missense |
16/27 |
- |
4 |
13-32931979-T-G |
c.7718T>G |
p.Leu2573* |
Nonsense |
16/27 |
- |
1 |
13-32931982-G-A |
c.7721G>A |
p.Trp2574* |
Nonsense |
16/27 |
- |
1 |
13-32931983-G-A |
c.7722G>A |
p.Trp2574* |
Nonsense |
16/27 |
- |
1 |
13-32931995-GAATACAG-G |
c.7734_7740del |
p.Ile2579Trpfs*67 |
Frameshift |
16/27 |
- |
1 |
13-32931999-C-T |
c.7738C>T |
p.Gln2580* |
Nonsense |
16/27 |
- |
4 |
13-32932003-T-G |
c.7742T>G |
p.Leu2581Trp |
Missense |
16/27 |
- |
1 |
13-32932008-G-A |
c.7747G>A |
p.Asp2583Asn |
Missense |
16/27 |
- |
1 |
13-32932009-GATGGTGGATGGCTCATACCCTCCAA-G |
c.7748_7772del |
p.Asp2583Valfs*57 |
Frameshift |
16/27 |
- |
1 |
13-32932012-G-A |
c.7751G>A |
p.Gly2584Asp |
Missense |
16/27 |
- |
2 |
13-32932014-G-A |
c.7753G>A |
p.Gly2585Arg |
Missense |
16/27 |
- |
8 |
13-32932018-G-A |
c.7757G>A |
p.Trp2586* |
Nonsense |
16/27 |
- |
10 |
13-32932020-C-T |
c.7759C>T |
p.Leu2587Phe |
Missense |
16/27 |
- |
4 |
13-32932022-TCATACCCTCCAATGATGGAAAGGCT-T |
c.7761_7785del |
p.Ile2588Glufs*52 |
Frameshift |
16/27 |
- |
1 |
13-32932023-CA-C |
c.7762del |
p.Ile2588Tyrfs*60 |
Frameshift |
16/27 |
- |
1 |
13-32932027-C-A |
c.7766C>A |
p.Pro2589His |
Missense |
16/27 |
- |
5 |
13-32932030-C-T |
c.7769C>T |
p.Ser2590Phe |
Missense |
16/27 |
- |
1 |
13-32932033-A-G |
c.7772A>G |
p.Asn2591Ser |
Missense |
16/27 |
- |
1 |
13-32932033-A-AA |
c.7772dup |
p.Asn2591Lysfs*2 |
Frameshift |
16/27 |
- |
1 |
13-32932035-TGATGGAAAGGCTGGAAAAGAAGAATTTTAT-T |
c.7774_7803del |
p.Asp2592_Tyr2601del |
InFrameDeletion |
16/27 |
- |
1 |
13-32932042-A-G |
c.7781A>G |
p.Lys2594Arg |
Missense |
16/27 |
- |
1 |
13-32932047-G-C |
c.7786G>C |
p.Gly2596Arg |
Missense |
16/27 |
- |
2 |
13-32932047-G-A |
c.7786G>A |
p.Gly2596Arg |
Missense |
16/27 |
- |
1 |
13-32932048-G-A |
c.7787G>A |
p.Gly2596Glu |
Missense |
16/27 |
- |
2 |
13-32932053-G-T |
c.7792G>T |
p.Glu2598* |
Nonsense |
16/27 |
- |
1 |
13-32932056-AGAA-A |
c.7795_7797del |
p.Glu2599del |
InFrameDeletion |
16/27 |
- |
2 |
13-32932056-G-A |
c.7795G>A |
p.Glu2599Lys |
Missense |
16/27 |
- |
1 |
13-32932063-AT-GG |
c.7802_7803delinsGG |
p.Tyr2601Trp |
Missense |
16/27 |
- |
1 |
13-32932063-A-G |
c.7802A>G |
p.Tyr2601Cys |
Missense |
16/27 |
- |
3 |
13-32932063-TATAG-T |
c.7802_7805del |
p.Tyr2601Trpfs*46 |
SpliceDonorDeletion |
16/27 |
- |
1 |
13-32932066-G-C |
c.7805G>C |
p.Arg2602Thr |
Missense |
16/27 |
- |
4 |
13-32932067-G-A |
c.7805+1G>A |
- |
IntronicSNV |
- |
16/26 |
4 |
13-32932068-GT-G |
c.7805+2del |
- |
IntronicDeletion |
- |
16/26 |
1 |
13-32932068-T-C |
c.7805+2T>C |
- |
IntronicSNV |
- |
16/26 |
1 |
13-32932068-GTA-G |
c.7805+2_7805+3del |
- |
IntronicDeletion |
- |
16/26 |
2 |
13-32932069-A-C |
c.7805+3A>C |
- |
IntronicSNV |
- |
16/26 |
2 |
13-32932072-C-G |
c.7805+6C>G |
- |
IntronicSNV |
- |
16/26 |
1 |
13-32936596-TAGT-T |
c.7806-64_7806-62del |
- |
IntronicDeletion |
- |
16/26 |
1 |
13-32936646-T-C |
c.7806-14T>C |
- |
IntronicSNV |
- |
16/26 |
14 |
13-32936651-T-G |
c.7806-9T>G |
- |
IntronicSNV |
- |
16/26 |
2 |
13-32936658-A-G |
c.7806-2A>G |
- |
IntronicSNV |
- |
16/26 |
12 |
13-32936659-G-A |
c.7806-1G>A |
- |
IntronicSNV |
- |
16/26 |
2 |
13-32936659-G-T |
c.7806-1G>T |
- |
IntronicSNV |
- |
16/26 |
2 |
13-32936660-G-GAG |
c.7806_7807insAG |
p.Ala2603Argfs*46 |
SpliceAcceptorInsertion |
17/27 |
- |
1 |
13-32936660-GGGCTCTGTGTGACACTCCAGGTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATA-G |
c.7806_7864del |
p.Ala2603Serfs*3 |
SpliceAcceptorDeletion |
17/27 |
- |
1 |
13-32936661-GG-G |
c.7807del |
p.Ala2603Leufs*45 |
Frameshift |
17/27 |
- |
1 |
13-32936661-G-C |
c.7807G>C |
p.Ala2603Pro |
Missense |
17/27 |
- |
2 |
13-32936661-GGCTCTGTGTGACACTCCAGGTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATAA-G |
c.7807_7865del |
p.Ala2603Serfs*3 |
Unclassified |
17/27 |
- |
5 |
13-32936661-G-GGA |
c.7807_7808insGA |
p.Ala2603Glyfs*46 |
SpliceAcceptorInsertion |
17/27 |
- |
1 |
13-32936664-C-A |
c.7810C>A |
p.Leu2604Met |
Missense |
17/27 |
- |
1 |
13-32936665-T-C |
c.7811T>C |
p.Leu2604Pro |
Missense |
17/27 |
- |
1 |
13-32936671-A-G |
c.7817A>G |
p.Asp2606Gly |
Missense |
17/27 |
- |
1 |
13-32936673-A-C |
c.7819A>C |
p.Thr2607Pro |
Missense |
17/27 |
- |
3 |
13-32936680-G-T |
c.7826G>T |
p.Gly2609Val |
Missense |
17/27 |
- |
3 |
13-32936680-G-A |
c.7826G>A |
p.Gly2609Asp |
Missense |
17/27 |
- |
7 |
13-32936682-TGTGGATC-T |
c.7828_7834del |
p.Val2610Glnfs*36 |
Frameshift |
17/27 |
- |
1 |
13-32936682-G-A |
c.7828G>A |
p.Val2610Met |
Missense |
17/27 |
- |
2 |
13-32936683-T-TT |
c.7829dup |
p.Asp2611Glyfs*7 |
Frameshift |
17/27 |
- |
2 |
13-32936686-A-G |
c.7832A>G |
p.Asp2611Gly |
Missense |
17/27 |
- |
3 |
13-32936688-C-T |
c.7834C>T |
p.Pro2612Ser |
Missense |
17/27 |
- |
1 |
13-32936693-G-C |
c.7839G>C |
p.Lys2613Asn |
Missense |
17/27 |
- |
1 |
13-32936694-C-T |
c.7840C>T |
p.Leu2614Phe |
Missense |
17/27 |
- |
1 |
13-32936700-TT-T |
c.7846del |
p.Ser2616Leufs*32 |
Frameshift |
17/27 |
- |
1 |
13-32936701-C-T |
c.7847C>T |
p.Ser2616Phe |
Missense |
17/27 |
- |
1 |
13-32936706-AATTTGGGTTTA-A |
c.7852_7862del |
p.Ile2618* |
Frameshift |
17/27 |
- |
1 |
13-32936709-T-G |
c.7855T>G |
p.Trp2619Gly |
Missense |
17/27 |
- |
1 |
13-32936711-G-A |
c.7857G>A |
p.Trp2619* |
Nonsense |
17/27 |
- |
1 |
13-32936711-G-C |
c.7857G>C |
p.Trp2619Cys |
Missense |
17/27 |
- |
2 |
13-32936713-T-C |
c.7859T>C |
p.Val2620Ala |
Missense |
17/27 |
- |
1 |
13-32936719-A-AA |
c.7865dup |
p.Asn2622Lysfs*4 |
Frameshift |
17/27 |
- |
1 |
13-32936719-A-G |
c.7865A>G |
p.Asn2622Ser |
Missense |
17/27 |
- |
1 |
13-32936721-C-T |
c.7867C>T |
p.His2623Tyr |
Missense |
17/27 |
- |
1 |
13-32936722-A-G |
c.7868A>G |
p.His2623Arg |
Missense |
17/27 |
- |
3 |
13-32936724-T-C |
c.7870T>C |
p.Tyr2624His |
Missense |
17/27 |
- |
1 |
13-32936724-T-A |
c.7870T>A |
p.Tyr2624Asn |
Missense |
17/27 |
- |
1 |
13-32936724-T-G |
c.7870T>G |
p.Tyr2624Asp |
Missense |
17/27 |
- |
1 |
13-32936725-A-G |
c.7871A>G |
p.Tyr2624Cys |
Missense |
17/27 |
- |
1 |
13-32936727-TAGA-T |
c.7873_7875del |
p.Arg2625del |
InFrameDeletion |
17/27 |
- |
2 |
13-32936729-A-T |
c.7875A>T |
p.Arg2625Ser |
Missense |
17/27 |
- |
1 |
13-32936729-A-G |
c.7875A>G |
p.Arg2625Arg |
Synonymous |
17/27 |
- |
2 |
13-32936730-T-C |
c.7876T>C |
p.Trp2626Arg |
Missense |
17/27 |
- |
1 |
13-32936732-G-A |
c.7878G>A |
p.Trp2626* |
Nonsense |
17/27 |
- |
6 |
13-32936732-G-C |
c.7878G>C |
p.Trp2626Cys |
Missense |
17/27 |
- |
28 |
13-32936733-A-T |
c.7879A>T |
p.Ile2627Phe |
Missense |
17/27 |
- |
21 |
13-32936733-A-G |
c.7879A>G |
p.Ile2627Val |
Missense |
17/27 |
- |
1 |
13-32936738-A-AA |
c.7884dup |
p.Trp2629Metfs*12 |
Frameshift |
17/27 |
- |
1 |
13-32936742-AAA-GAC |
c.7888_7890delinsGAC |
p.Lys2630Asp |
Missense |
17/27 |
- |
1 |
13-32936742-A-C |
c.7888A>C |
p.Lys2630Gln |
Missense |
17/27 |
- |
2 |
13-32936742-AA-GC |
c.7888_7889delinsGC |
p.Lys2630Ala |
Missense |
17/27 |
- |
1 |
13-32936744-A-AA |
c.7890dup |
p.Leu2631Thrfs*10 |
Frameshift |
17/27 |
- |
3 |
13-32936749-C-G |
c.7895C>G |
p.Ala2632Gly |
Missense |
17/27 |
- |
1 |
13-32936754-TA-T |
c.7900del |
p.Met2634Trpfs*14 |
Frameshift |
17/27 |
- |
1 |
13-32936755-T-C |
c.7901T>C |
p.Met2634Thr |
Missense |
17/27 |
- |
1 |
13-32936756-G-A |
c.7902G>A |
p.Met2634Ile |
Missense |
17/27 |
- |
1 |
13-32936758-A-G |
c.7904A>G |
p.Glu2635Gly |
Missense |
17/27 |
- |
1 |
13-32936765-CC-C |
c.7911del |
p.Pro2639Leufs*9 |
Frameshift |
17/27 |
- |
2 |
13-32936765-CCTT-C |
c.7911_7913del |
p.Phe2638del |
InFrameDeletion |
17/27 |
- |
1 |
13-32936767-TTTCCT-T |
c.7913_7917del |
p.Phe2638* |
Frameshift |
17/27 |
- |
14 |
13-32936769-C-G |
c.7915C>G |
p.Pro2639Ala |
Missense |
17/27 |
- |
1 |
13-32936770-C-T |
c.7916C>T |
p.Pro2639Leu |
Missense |
17/27 |
- |
1 |
13-32936775-G-A |
c.7921G>A |
p.Glu2641Lys |
Missense |
17/27 |
- |
1 |
13-32936779-T-G |
c.7925T>G |
p.Phe2642Cys |
Missense |
17/27 |
- |
1 |
13-32936779-T-C |
c.7925T>C |
p.Phe2642Ser |
Missense |
17/27 |
- |
2 |
13-32936782-C-G |
c.7928C>G |
p.Ala2643Gly |
Missense |
17/27 |
- |
5 |
13-32936782-C-T |
c.7928C>T |
p.Ala2643Val |
Missense |
17/27 |
- |
1 |
13-32936784-A-G |
c.7930A>G |
p.Asn2644Asp |
Missense |
17/27 |
- |
1 |
13-32936785-A-G |
c.7931A>G |
p.Asn2644Ser |
Missense |
17/27 |
- |
1 |
13-32936787-A-G |
c.7933A>G |
p.Arg2645Gly |
Missense |
17/27 |
- |
1 |
13-32936788-AG-A |
c.7934del |
p.Arg2645Asnfs*3 |
Frameshift |
17/27 |
- |
9 |
13-32936793-C-G |
c.7939C>G |
p.Leu2647Val |
Missense |
17/27 |
- |
1 |
13-32936794-T-C |
c.7940T>C |
p.Leu2647Pro |
Missense |
17/27 |
- |
9 |
13-32936795-A-C |
c.7941A>C |
p.Leu2647Leu |
Synonymous |
17/27 |
- |
2 |
13-32936798-GCCCAGAAAGG-G |
c.7944_7953del |
p.Ser2648Argfs*6 |
Frameshift |
17/27 |
- |
1 |
13-32936798-C-T |
c.7944C>T |
p.Ser2648Ser |
Synonymous |
17/27 |
- |
1 |
13-32936799-CCCAGAAAGGGTGCTTCTTCAACTAAAATAC-C |
c.7945_7974del |
p.Pro2649_Tyr2658del |
InFrameDeletion |
17/27 |
- |
1 |
13-32936808-GGTGCTTCTTC-G |
c.7954_7963del |
p.Val2652Asnfs*2 |
Frameshift |
17/27 |
- |
1 |
13-32936808-G-A |
c.7954G>A |
p.Val2652Met |
Missense |
17/27 |
- |
2 |
13-32936808-GG-G |
c.7954del |
p.Val2652Cysfs*5 |
Frameshift |
17/27 |
- |
1 |
13-32936810-G-C |
c.7956G>C |
p.Val2652Val |
Synonymous |
17/27 |
- |
1 |
13-32936810-G-A |
c.7956G>A |
p.Val2652Val |
Synonymous |
17/27 |
- |
1 |
13-32936810-G-T |
c.7956G>T |
p.Val2652Val |
Synonymous |
17/27 |
- |
1 |
13-32936812-T-C |
c.7958T>C |
p.Leu2653Pro |
Missense |
17/27 |
- |
17 |
13-32936812-T-G |
c.7958T>G |
p.Leu2653Arg |
Missense |
17/27 |
- |
1 |
13-32936814-C-G |
c.7960C>G |
p.Leu2654Val |
Missense |
17/27 |
- |
1 |
13-32936814-C-T |
c.7960C>T |
p.Leu2654Phe |
Missense |
17/27 |
- |
1 |
13-32936815-T-C |
c.7961T>C |
p.Leu2654Pro |
Missense |
17/27 |
- |
3 |
13-32936817-C-T |
c.7963C>T |
p.Gln2655* |
Nonsense |
17/27 |
- |
1 |
13-32936818-CAACTAAAATA-C |
c.7964_7973del |
p.Gln2655Profs*15 |
Frameshift |
17/27 |
- |
1 |
13-32936818-A-G |
c.7964A>G |
p.Gln2655Arg |
Missense |
17/27 |
- |
4 |
13-32936820-C-T |
c.7966C>T |
p.Leu2656Leu |
Synonymous |
17/27 |
- |
1 |
13-32936821-T-C |
c.7967T>C |
p.Leu2656Pro |
Missense |
17/27 |
- |
1 |
13-32936824-A-C |
c.7970A>C |
p.Lys2657Thr |
Missense |
17/27 |
- |
1 |
13-32936825-A-AA |
c.7971dup |
p.Tyr2658Ilefs*4 |
Frameshift |
17/27 |
- |
1 |
13-32936826-T-C |
c.7972T>C |
p.Tyr2658His |
Missense |
17/27 |
- |
1 |
13-32936828-C-G |
c.7974C>G |
p.Tyr2658* |
Nonsense |
17/27 |
- |
1 |
13-32936829-A-G |
c.7975A>G |
p.Arg2659Gly |
Missense |
17/27 |
- |
11 |
13-32936830-G-A |
c.7976G>A |
p.Arg2659Lys |
Missense |
17/27 |
- |
15 |
13-32936830-G-C |
c.7976G>C |
p.Arg2659Thr |
Missense |
17/27 |
- |
5 |
13-32936831-G-A |
c.7976+1G>A |
- |
IntronicSNV |
- |
17/26 |
4 |
13-32936832-C-T |
c.7976+2C>T |
- |
IntronicSNV |
- |
17/26 |
1 |
13-32936832-C-A |
c.7976+2C>A |
- |
IntronicSNV |
- |
17/26 |
1 |
13-32936834-AA-A |
c.7976+4del |
- |
IntronicDeletion |
- |
17/26 |
1 |
13-32936835-G-T |
c.7976+5G>T |
- |
IntronicSNV |
- |
17/26 |
1 |
13-32936851-TTACGTAATCATATACGGCAGTATGGTTAAGGTTTCTGTGTAGTCTGTGACTTCCATGTC-T |
c.7976+21_7976+79del |
- |
IntronicDeletion |
- |
17/26 |
1 |
13-32936966-CCTGTCATCCCTAGCCCCCATTTAAGAGAGATCACACATTCATGCATTGCTTGCTTCCCT-C |
c.7976+138_7976+196del |
- |
IntronicDeletion |
- |
17/26 |
1 |
13-32937061-AGAAGAATATGAGTTACTAATTTGATCCACTATTTGGGGATTGCTAATAAAGCATTTTTG-A |
c.7976+231_7977-197del |
- |
IntronicDeletion |
- |
17/26 |
1 |
13-32937166-TGAAACAATATATTCCTAGCTACAAAATTTTTAATTCTCAGTATTTCTTAGATAAATTCA-T |
c.7977-149_7977-91del |
- |
IntronicDeletion |
- |
17/26 |
1 |
13-32937306-T-TT |
c.7977-10dup |
- |
IntronicInsertion |
- |
17/26 |
1 |
13-32937309-C-G |
c.7977-7C>G |
- |
IntronicSNV |
- |
17/26 |
3 |
13-32937310-T-G |
c.7977-6T>G |
- |
IntronicSNV |
- |
17/26 |
2 |
13-32937314-A-G |
c.7977-2A>G |
- |
IntronicSNV |
- |
17/26 |
1 |
13-32937314-A-T |
c.7977-2A>T |
- |
IntronicSNV |
- |
17/26 |
3 |
13-32937315-G-T |
c.7977-1G>T |
- |
IntronicSNV |
- |
17/26 |
3 |
13-32937315-G-C |
c.7977-1G>C |
- |
IntronicSNV |
- |
17/26 |
10 |
13-32937316-GATATGATACGGAAATTGATAGAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGG-G |
c.7979_8037del |
p.Tyr2660* |
SpliceAcceptorDeletion |
18/27 |
- |
1 |
13-32937317-T-G |
c.7978T>G |
p.Tyr2660Asp |
Missense |
18/27 |
- |
8 |
13-32937318-TATGATACGGAAATTGATAGAAGCAGAAGAT-T |
c.7979_8008del |
p.Tyr2660_Arg2669del |
InFrameDeletion |
18/27 |
- |
1 |
13-32937319-ATGATACGGAA-A |
c.7980_7989del |
p.Tyr2660* |
Frameshift |
18/27 |
- |
1 |
13-32937323-A-T |
c.7984A>T |
p.Thr2662Ser |
Missense |
18/27 |
- |
1 |
13-32937324-C-G |
c.7985C>G |
p.Thr2662Arg |
Missense |
18/27 |
- |
2 |
13-32937324-C-A |
c.7985C>A |
p.Thr2662Lys |
Missense |
18/27 |
- |
1 |
13-32937324-C-T |
c.7985C>T |
p.Thr2662Met |
Missense |
18/27 |
- |
1 |
13-32937325-G-A |
c.7986G>A |
p.Thr2662Thr |
Synonymous |
18/27 |
- |
1 |
13-32937326-GG-G |
c.7987del |
p.Glu2663Lysfs*10 |
Frameshift |
18/27 |
- |
2 |
13-32937326-G-A |
c.7987G>A |
p.Glu2663Lys |
Missense |
18/27 |
- |
4 |
13-32937326-G-T |
c.7987G>T |
p.Glu2663* |
Nonsense |
18/27 |
- |
1 |
13-32937327-A-G |
c.7988A>G |
p.Glu2663Gly |
Missense |
18/27 |
- |
1 |
13-32937327-A-T |
c.7988A>T |
p.Glu2663Val |
Missense |
18/27 |
- |
14 |
13-32937331-T-A |
c.7992T>A |
p.Ile2664Ile |
Synonymous |
18/27 |
- |
6 |
13-32937333-A-G |
c.7994A>G |
p.Asp2665Gly |
Missense |
18/27 |
- |
15 |
13-32937336-G-C |
c.7997G>C |
p.Arg2666Thr |
Missense |
18/27 |
- |
1 |
13-32937338-AA-A |
c.7999del |
p.Ser2667Alafs*6 |
Frameshift |
18/27 |
- |
1 |
13-32937338-AAGCAGAAGAT-A |
c.7999_8008del |
p.Ser2667Argfs*3 |
Frameshift |
18/27 |
- |
1 |
13-32937340-C-T |
c.8001C>T |
p.Ser2667Ser |
Synonymous |
18/27 |
- |
1 |
13-32937341-A-T |
c.8002A>T |
p.Arg2668* |
Nonsense |
18/27 |
- |
1 |
13-32937342-G-A |
c.8003G>A |
p.Arg2668Lys |
Missense |
18/27 |
- |
1 |
13-32937343-GAAGATCGGCTATAAAAAAGATAATGGAAAG-G |
c.8004_8033del |
p.Arg2669_Arg2678del |
InFrameDeletion |
18/27 |
- |
1 |
13-32937344-AAGATCGGCTA-A |
c.8005_8014del |
p.Arg2669* |
Frameshift |
18/27 |
- |
1 |
13-32937346-A-G |
c.8007A>G |
p.Arg2669Arg |
Synonymous |
18/27 |
- |
2 |
13-32937348-TC-T |
c.8009del |
p.Ser2670Trpfs*3 |
Frameshift |
18/27 |
- |
1 |
13-32937348-C-T |
c.8009C>T |
p.Ser2670Leu |
Missense |
18/27 |
- |
14 |
13-32937348-C-A |
c.8009C>A |
p.Ser2670* |
Nonsense |
18/27 |
- |
3 |
13-32937348-C-G |
c.8009C>G |
p.Ser2670Trp |
Missense |
18/27 |
- |
2 |
13-32937349-G-A |
c.8010G>A |
p.Ser2670Ser |
Synonymous |
18/27 |
- |
1 |
13-32937350-G-T |
c.8011G>T |
p.Ala2671Ser |
Missense |
18/27 |
- |
1 |
13-32937353-A-G |
c.8014A>G |
p.Ile2672Val |
Missense |
18/27 |
- |
1 |
13-32937353-TATAAAAAAGA-T |
c.8014_8023del |
p.Ile2672* |
Frameshift |
18/27 |
- |
1 |
13-32937354-T-C |
c.8015T>C |
p.Ile2672Thr |
Missense |
18/27 |
- |
1 |
13-32937355-A-AT |
c.8016_8017insT |
p.Lys2673* |
Nonsense |
18/27 |
- |
1 |
13-32937359-A-ATA |
c.8020_8021insTA |
p.Lys2674Ilefs*3 |
Frameshift |
18/27 |
- |
1 |
13-32937360-A-AA |
c.8021dup |
p.Ile2675Aspfs*6 |
Frameshift |
18/27 |
- |
2 |
13-32937360-AA-A |
c.8021del |
p.Lys2674Argfs*2 |
Frameshift |
18/27 |
- |
1 |
13-32937361-G-A |
c.8022G>A |
p.Lys2674Lys |
Synonymous |
18/27 |
- |
1 |
13-32937361-AGATAATGGA-A |
c.8022_8030del |
p.Ile2675_Glu2677del |
InFrameDeletion |
18/27 |
- |
1 |
13-32937362-AT-TA |
c.8023_8024delinsTA |
p.Ile2675* |
Nonsense |
18/27 |
- |
1 |
13-32937362-A-G |
c.8023A>G |
p.Ile2675Val |
Missense |
18/27 |
- |
16 |
13-32937363-ATAATGGAAAG-A |
c.8024_8033del |
p.Ile2675Argfs*16 |
Frameshift |
18/27 |
- |
1 |
13-32937365-A-T |
c.8026A>T |
p.Met2676Leu |
Missense |
18/27 |
- |
1 |
13-32937366-T-C |
c.8027T>C |
p.Met2676Thr |
Missense |
18/27 |
- |
6 |
13-32937371-A-G |
c.8032A>G |
p.Arg2678Gly |
Missense |
18/27 |
- |
2 |
13-32937374-G-T |
c.8035G>T |
p.Asp2679Tyr |
Missense |
18/27 |
- |
5 |
13-32937375-A-G |
c.8036A>G |
p.Asp2679Gly |
Missense |
18/27 |
- |
4 |
13-32937376-T-TT |
c.8037dup |
p.Asp2680* |
Nonsense |
18/27 |
- |
1 |
13-32937377-G-A |
c.8038G>A |
p.Asp2680Asn |
Missense |
18/27 |
- |
1 |
13-32937378-A-G |
c.8039A>G |
p.Asp2680Gly |
Missense |
18/27 |
- |
2 |
13-32937381-ACA-A |
c.8042_8043del |
p.Thr2681Serfs*11 |
Frameshift |
18/27 |
- |
4 |
13-32937381-C-G |
c.8042C>G |
p.Thr2681Arg |
Missense |
18/27 |
- |
2 |
13-32937392-AA-A |
c.8053del |
p.Thr2685Hisfs*9 |
Frameshift |
18/27 |
- |
1 |
13-32937395-CTT-GAG |
c.8056_8058delinsGAG |
p.Leu2686Glu |
Missense |
18/27 |
- |
1 |
13-32937396-T-C |
c.8057T>C |
p.Leu2686Pro |
Missense |
18/27 |
- |
4 |
13-32937398-G-T |
c.8059G>T |
p.Val2687Phe |
Missense |
18/27 |
- |
1 |
13-32937402-T-C |
c.8063T>C |
p.Leu2688Pro |
Missense |
18/27 |
- |
8 |
13-32937406-T-A |
c.8067T>A |
p.Cys2689* |
Nonsense |
18/27 |
- |
4 |
13-32937407-G-T |
c.8068G>T |
p.Val2690Phe |
Missense |
18/27 |
- |
1 |
13-32937407-TGT-T |
c.8068_8069del |
p.Val2690Phefs*2 |
Frameshift |
18/27 |
- |
3 |
13-32937411-C-T |
c.8072C>T |
p.Ser2691Phe |
Missense |
18/27 |
- |
4 |
13-32937423-C-T |
c.8084C>T |
p.Ser2695Leu |
Missense |
18/27 |
- |
2 |
13-32937429-AGCGCAAATATATCTGAAACTTCTAGC-A |
c.8090_8115del |
p.Ser2697Lysfs*2 |
Frameshift |
18/27 |
- |
1 |
13-32937429-AGCGCAAATATATCTGA-A |
c.8090_8105del |
p.Ser2697Lysfs*31 |
Frameshift |
18/27 |
- |
1 |
13-32937431-G-A |
c.8092G>A |
p.Ala2698Thr |
Missense |
18/27 |
- |
1 |
13-32937450-C-T |
c.8111C>T |
p.Ser2704Phe |
Missense |
18/27 |
- |
4 |
13-32937456-A-G |
c.8117A>G |
p.Asn2706Ser |
Missense |
18/27 |
- |
4 |
13-32937464-A-AA |
c.8125dup |
p.Ser2709Lysfs*2 |
Frameshift |
18/27 |
- |
1 |
13-32937469-GT-G |
c.8130del |
p.Ser2710Argfs*23 |
Frameshift |
18/27 |
- |
1 |
13-32937473-G-A |
c.8134G>A |
p.Asp2712Asn |
Missense |
18/27 |
- |
1 |
13-32937476-A-G |
c.8137A>G |
p.Thr2713Ala |
Missense |
18/27 |
- |
1 |
13-32937479-C-T |
c.8140C>T |
p.Gln2714* |
Nonsense |
18/27 |
- |
1 |
13-32937480-CAAAAA-C |
c.8141_8145del |
p.Gln2714Argfs*5 |
Frameshift |
18/27 |
- |
1 |
13-32937488-G-T |
c.8149G>T |
p.Ala2717Ser |
Missense |
18/27 |
- |
17 |
13-32937489-C-T |
c.8150C>T |
p.Ala2717Val |
Missense |
18/27 |
- |
1 |
13-32937501-T-A |
c.8162T>A |
p.Leu2721His |
Missense |
18/27 |
- |
5 |
13-32937501-T-C |
c.8162T>C |
p.Leu2721Pro |
Missense |
18/27 |
- |
1 |
13-32937503-A-AA |
c.8164dup |
p.Thr2722Asnfs*8 |
Frameshift |
18/27 |
- |
1 |
13-32937504-C-G |
c.8165C>G |
p.Thr2722Arg |
Missense |
18/27 |
- |
18 |
13-32937506-G-A |
c.8167G>A |
p.Asp2723Asn |
Missense |
18/27 |
- |
1 |
13-32937506-G-C |
c.8167G>C |
p.Asp2723His |
Missense |
18/27 |
- |
48 |
13-32937507-A-T |
c.8168A>T |
p.Asp2723Val |
Missense |
18/27 |
- |
3 |
13-32937507-A-G |
c.8168A>G |
p.Asp2723Gly |
Missense |
18/27 |
- |
25 |
13-32937507-A-C |
c.8168A>C |
p.Asp2723Ala |
Missense |
18/27 |
- |
5 |
13-32937510-G-C |
c.8171G>C |
p.Gly2724Ala |
Missense |
18/27 |
- |
2 |
13-32937510-G-T |
c.8171G>T |
p.Gly2724Val |
Missense |
18/27 |
- |
1 |
13-32937511-GG-G |
c.8172del |
p.Trp2725Glyfs*8 |
Frameshift |
18/27 |
- |
1 |
13-32937512-TG-GC |
c.8173_8174delinsGC |
p.Trp2725Ala |
Missense |
18/27 |
- |
1 |
13-32937513-G-T |
c.8174G>T |
p.Trp2725Leu |
Missense |
18/27 |
- |
2 |
13-32937513-G-A |
c.8174G>A |
p.Trp2725* |
Nonsense |
18/27 |
- |
2 |
13-32937514-G-A |
c.8175G>A |
p.Trp2725* |
Nonsense |
18/27 |
- |
2 |
13-32937516-A-G |
c.8177A>G |
p.Tyr2726Cys |
Missense |
18/27 |
- |
6 |
13-32937521-G-A |
c.8182G>A |
p.Val2728Ile |
Missense |
18/27 |
- |
17 |
13-32937521-G-C |
c.8182G>C |
p.Val2728Leu |
Missense |
18/27 |
- |
1 |
13-32937521-GT-CA |
c.8182_8183delinsCA |
p.Val2728His |
Missense |
18/27 |
- |
1 |
13-32937522-T-C |
c.8183T>C |
p.Val2728Ala |
Missense |
18/27 |
- |
2 |
13-32937526-G-T |
c.8187G>T |
p.Lys2729Asn |
Missense |
18/27 |
- |
34 |
13-32937527-G-C |
c.8188G>C |
p.Ala2730Pro |
Missense |
18/27 |
- |
3 |
13-32937528-C-T |
c.8189C>T |
p.Ala2730Val |
Missense |
18/27 |
- |
2 |
13-32937534-T-G |
c.8195T>G |
p.Leu2732* |
Nonsense |
18/27 |
- |
5 |
13-32937537-A-T |
c.8198A>T |
p.Asp2733Val |
Missense |
18/27 |
- |
1 |
13-32937545-CC-C |
c.8206del |
p.Leu2736Serfs*2 |
Frameshift |
18/27 |
- |
1 |
13-32937546-CT-C |
c.8207del |
p.Leu2736Profs*2 |
Frameshift |
18/27 |
- |
1 |
13-32937554-G-A |
c.8215G>A |
p.Val2739Ile |
Missense |
18/27 |
- |
1 |
13-32937557-CTTAAA-C |
c.8218_8222del |
p.Leu2740Glufs*22 |
Frameshift |
18/27 |
- |
1 |
13-32937558-T-G |
c.8219T>G |
p.Leu2740* |
Nonsense |
18/27 |
- |
2 |
13-32937558-T-A |
c.8219T>A |
p.Leu2740* |
Nonsense |
18/27 |
- |
3 |
13-32937561-A-AA |
c.8222dup |
p.Asn2742Glufs*22 |
Frameshift |
18/27 |
- |
1 |
13-32937568-GCAGACTGACAGTTGG-G |
c.8229_8243del |
p.Arg2744_Gly2748del |
InFrameDeletion |
18/27 |
- |
1 |
13-32937573-T-TT |
c.8234dup |
p.Thr2746Aspfs*18 |
Frameshift |
18/27 |
- |
2 |
13-32937582-G-A |
c.8243G>A |
p.Gly2748Asp |
Missense |
18/27 |
- |
15 |
13-32937584-C-T |
c.8245C>T |
p.Gln2749* |
Nonsense |
18/27 |
- |
2 |
13-32937586-AGA-A |
c.8247_8248del |
p.Lys2750Aspfs*13 |
Frameshift |
18/27 |
- |
2 |
13-32937588-AAGA-A |
c.8249_8251del |
p.Lys2750del |
InFrameDeletion |
18/27 |
- |
2 |
13-32937589-AGA-A |
c.8250_8251del |
p.Lys2750Asnfs*13 |
Frameshift |
18/27 |
- |
2 |
13-32937593-A-T |
c.8254A>T |
p.Ile2752Phe |
Missense |
18/27 |
- |
1 |
13-32937597-T-C |
c.8258T>C |
p.Leu2753Pro |
Missense |
18/27 |
- |
2 |
13-32937597-CTTC-C |
c.8258_8260del |
p.Leu2753del |
InFrameDeletion |
18/27 |
- |
2 |
13-32937601-T-G |
c.8262T>G |
p.His2754Gln |
Missense |
18/27 |
- |
2 |
13-32937605-AGCAGA-A |
c.8266_8270del |
p.Ala2756Thrfs*6 |
Frameshift |
18/27 |
- |
1 |
13-32937606-C-G |
c.8267C>G |
p.Ala2756Gly |
Missense |
18/27 |
- |
1 |
13-32937609-A-T |
c.8270A>T |
p.Glu2757Val |
Missense |
18/27 |
- |
1 |
13-32937618-G-T |
c.8279G>T |
p.Gly2760Val |
Missense |
18/27 |
- |
1 |
13-32937635-A-G |
c.8296A>G |
p.Thr2766Ala |
Missense |
18/27 |
- |
1 |
13-32937636-AC-A |
c.8297del |
p.Thr2766Asnfs*11 |
Frameshift |
18/27 |
- |
13 |
13-32937636-C-T |
c.8297C>T |
p.Thr2766Ile |
Missense |
18/27 |
- |
2 |
13-32937637-CA-C |
c.8298del |
p.Pro2767Leufs*10 |
Frameshift |
18/27 |
- |
1 |
13-32937638-C-T |
c.8299C>T |
p.Pro2767Ser |
Missense |
18/27 |
- |
3 |
13-32937642-T-A |
c.8303T>A |
p.Leu2768His |
Missense |
18/27 |
- |
1 |
13-32937644-G-T |
c.8305G>T |
p.Glu2769* |
Nonsense |
18/27 |
- |
1 |
13-32937647-G-A |
c.8308G>A |
p.Ala2770Thr |
Missense |
18/27 |
- |
5 |
13-32937648-C-A |
c.8309C>A |
p.Ala2770Asp |
Missense |
18/27 |
- |
1 |
13-32937653-G-A |
c.8314G>A |
p.Glu2772Lys |
Missense |
18/27 |
- |
2 |
13-32937653-G-T |
c.8314G>T |
p.Glu2772* |
Nonsense |
18/27 |
- |
1 |
13-32937659-C-G |
c.8320C>G |
p.Leu2774Val |
Missense |
18/27 |
- |
1 |
13-32937661-T-TT |
c.8322dup |
p.Met2775Tyrfs*7 |
Frameshift |
18/27 |
- |
1 |
13-32937662-A-AA |
c.8323dup |
p.Met2775Asnfs*7 |
Frameshift |
18/27 |
- |
1 |
13-32937663-T-G |
c.8324T>G |
p.Met2775Arg |
Missense |
18/27 |
- |
2 |
13-32937666-T-G |
c.8327T>G |
p.Leu2776* |
Nonsense |
18/27 |
- |
3 |
13-32937668-AAAG-A |
c.8329_8331del |
p.Lys2777del |
InFrameDeletion |
18/27 |
- |
1 |
13-32937670-G-A |
c.8331G>A |
p.Lys2777Lys |
Synonymous |
18/27 |
- |
2 |
13-32937671-G-T |
c.8331+1G>T |
- |
IntronicSNV |
- |
18/26 |
6 |
13-32937671-G-A |
c.8331+1G>A |
- |
IntronicSNV |
- |
18/26 |
4 |
13-32937672-T-C |
c.8331+2T>C |
- |
IntronicSNV |
- |
18/26 |
5 |
13-32938881-A-G |
c.8331+1211A>G |
- |
IntronicSNV |
- |
18/26 |
1 |
13-32938881-A-C |
c.8331+1211A>C |
- |
IntronicSNV |
- |
18/26 |
1 |
13-32939286-T-A |
c.8331+1616T>A |
- |
IntronicSNV |
- |
18/26 |
1 |
13-32939286-T-G |
c.8331+1616T>G |
- |
IntronicSNV |
- |
18/26 |
1 |
13-32940345-C-A |
c.8331+2675C>A |
- |
IntronicSNV |
- |
18/26 |
9 |
13-32943734-G-A |
c.8332-805G>A |
- |
IntronicSNV |
- |
18/26 |
1 |
13-32944056-G-C |
c.8332-483G>C |
- |
IntronicSNV |
- |
18/26 |
2 |
13-32944056-G-T |
c.8332-483G>T |
- |
IntronicSNV |
- |
18/26 |
2 |
13-32944539-GATTTCTGCTAACAGTACTCGGCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCTGA-G |
c.8332_8390del |
p.Ile2778Profs*2 |
InFrameDeletion |
19/27 |
- |
3 |
13-32944541-TTTCTGCTAACAGTACTCGGCCTGCTCGCTG-T |
c.8334_8363del |
p.Ile2778_Trp2788delinsMet |
MultiAAMissense |
19/27 |
- |
1 |
13-32944545-GC-CG |
c.8338_8339delinsCG |
p.Ala2780Arg |
Missense |
19/27 |
- |
1 |
13-32944545-G-T |
c.8338G>T |
p.Ala2780Ser |
Missense |
19/27 |
- |
5 |
13-32944547-T-G |
c.8340T>G |
p.Ala2780Ala |
Synonymous |
19/27 |
- |
1 |
13-32944547-T-A |
c.8340T>A |
p.Ala2780Ala |
Synonymous |
19/27 |
- |
1 |
13-32944547-T-C |
c.8340T>C |
p.Ala2780Ala |
Synonymous |
19/27 |
- |
1 |
13-32944549-A-G |
c.8342A>G |
p.Asn2781Ser |
Missense |
19/27 |
- |
1 |
13-32944549-A-T |
c.8342A>T |
p.Asn2781Ile |
Missense |
19/27 |
- |
3 |
13-32944552-G-A |
c.8345G>A |
p.Ser2782Asn |
Missense |
19/27 |
- |
1 |
13-32944554-A-C |
c.8347A>C |
p.Thr2783Pro |
Missense |
19/27 |
- |
1 |
13-32944557-C-G |
c.8350C>G |
p.Arg2784Gly |
Missense |
19/27 |
- |
1 |
13-32944557-C-T |
c.8350C>T |
p.Arg2784Trp |
Missense |
19/27 |
- |
7 |
13-32944558-G-A |
c.8351G>A |
p.Arg2784Gln |
Missense |
19/27 |
- |
14 |
13-32944563-G-A |
c.8356G>A |
p.Ala2786Thr |
Missense |
19/27 |
- |
2 |
13-32944563-G-C |
c.8356G>C |
p.Ala2786Pro |
Missense |
19/27 |
- |
2 |
13-32944566-TCGCTGGTATACCAAACTTGGATTCTTTCCT-T |
c.8359_8388del |
p.Arg2787_Pro2796del |
InFrameDeletion |
19/27 |
- |
1 |
13-32944566-C-T |
c.8359C>T |
p.Arg2787Cys |
Missense |
19/27 |
- |
1 |
13-32944567-G-T |
c.8360G>T |
p.Arg2787Leu |
Missense |
19/27 |
- |
1 |
13-32944567-G-A |
c.8360G>A |
p.Arg2787His |
Missense |
19/27 |
- |
5 |
13-32944569-T-C |
c.8362T>C |
p.Trp2788Arg |
Missense |
19/27 |
- |
2 |
13-32944570-G-A |
c.8363G>A |
p.Trp2788* |
Nonsense |
19/27 |
- |
7 |
13-32944570-G-C |
c.8363G>C |
p.Trp2788Ser |
Missense |
19/27 |
- |
2 |
13-32944571-G-A |
c.8364G>A |
p.Trp2788* |
Nonsense |
19/27 |
- |
7 |
13-32944573-A-G |
c.8366A>G |
p.Tyr2789Cys |
Missense |
19/27 |
- |
1 |
13-32944574-T-G |
c.8367T>G |
p.Tyr2789* |
Nonsense |
19/27 |
- |
1 |
13-32944574-T-A |
c.8367T>A |
p.Tyr2789* |
Nonsense |
19/27 |
- |
1 |
13-32944581-ACTTGGATTCTT-A |
c.8374_8384del |
p.Leu2792Serfs*2 |
Frameshift |
19/27 |
- |
1 |
13-32944582-T-C |
c.8375T>C |
p.Leu2792Pro |
Missense |
19/27 |
- |
4 |
13-32944584-G-A |
c.8377G>A |
p.Gly2793Arg |
Missense |
19/27 |
- |
11 |
13-32944585-G-A |
c.8378G>A |
p.Gly2793Glu |
Missense |
19/27 |
- |
6 |
13-32944593-C-T |
c.8386C>T |
p.Pro2796Ser |
Missense |
19/27 |
- |
2 |
13-32944600-C-G |
c.8393C>G |
p.Pro2798Arg |
Missense |
19/27 |
- |
1 |
13-32944603-G-GG |
c.8396dup |
p.Pro2800Thrfs*12 |
Frameshift |
19/27 |
- |
1 |
13-32944605-C-T |
c.8398C>T |
p.Pro2800Ser |
Missense |
19/27 |
- |
3 |
13-32944606-C-G |
c.8399C>G |
p.Pro2800Arg |
Missense |
19/27 |
- |
3 |
13-32944607-CTTTT-C |
c.8400_8403del |
p.Phe2801Leufs*19 |
Frameshift |
19/27 |
- |
1 |
13-32944607-TTT-AAAA |
c.8400_8402delinsAAAA |
p.Phe2801Lysfs*11 |
Frameshift |
19/27 |
- |
3 |
13-32944607-TTT-AAA |
c.8400_8402inv |
p.Phe2801Asn |
Missense |
19/27 |
- |
1 |
13-32944608-TTTT-T |
c.8401_8403del |
p.Phe2801del |
InFrameDeletion |
19/27 |
- |
1 |
13-32944609-TTT-T |
c.8402_8403del |
p.Phe2801Serfs*10 |
Frameshift |
19/27 |
- |
1 |
13-32944609-T-TAAAA |
c.8402_8403insAAAA |
p.Phe2801Leufs*12 |
Frameshift |
19/27 |
- |
1 |
13-32944624-C-T |
c.8417C>T |
p.Ser2806Leu |
Missense |
19/27 |
- |
1 |
13-32944627-C-T |
c.8420C>T |
p.Ser2807Leu |
Missense |
19/27 |
- |
4 |
13-32944629-C-G |
c.8422C>G |
p.Leu2808Val |
Missense |
19/27 |
- |
1 |
13-32944630-T-G |
c.8423T>G |
p.Leu2808Arg |
Missense |
19/27 |
- |
1 |
13-32944642-G-A |
c.8435G>A |
p.Gly2812Glu |
Missense |
19/27 |
- |
4 |
13-32944644-AGGA-A |
c.8437_8439del |
p.Gly2813del |
InFrameDeletion |
19/27 |
- |
1 |
13-32944645-G-A |
c.8438G>A |
p.Gly2813Glu |
Missense |
19/27 |
- |
3 |
13-32944654-G-A |
c.8447G>A |
p.Gly2816Asp |
Missense |
19/27 |
- |
1 |
13-32944659-G-A |
c.8452G>A |
p.Val2818Ile |
Missense |
19/27 |
- |
1 |
13-32944663-A-T |
c.8456A>T |
p.Asp2819Val |
Missense |
19/27 |
- |
1 |
13-32944667-A-C |
c.8460A>C |
p.Val2820Val |
Synonymous |
19/27 |
- |
4 |
13-32944669-T-C |
c.8462T>C |
p.Ile2821Thr |
Missense |
19/27 |
- |
1 |
13-32944670-T-TT |
c.8463dup |
p.Ile2822Tyrfs*23 |
Frameshift |
19/27 |
- |
1 |
13-32944671-A-T |
c.8464A>T |
p.Ile2822Phe |
Missense |
19/27 |
- |
1 |
13-32944677-A-G |
c.8470A>G |
p.Arg2824Gly |
Missense |
19/27 |
- |
1 |
13-32944678-G-C |
c.8471G>C |
p.Arg2824Thr |
Missense |
19/27 |
- |
1 |
13-32944685-C-A |
c.8478C>A |
p.Tyr2826* |
Nonsense |
19/27 |
- |
1 |
13-32944687-CC-C |
c.8480del |
p.Pro2827Leufs*36 |
Frameshift |
19/27 |
- |
1 |
13-32944689-A-G |
c.8482A>G |
p.Ile2828Val |
Missense |
19/27 |
- |
1 |
13-32944691-A-T |
c.8484A>T |
p.Ile2828Ile |
Synonymous |
19/27 |
- |
1 |
13-32944692-C-CC |
c.8485dup |
p.Gln2829Profs*16 |
SpliceDonorInsertion |
19/27 |
- |
1 |
13-32944692-ACAG-A |
c.8485_8487del |
p.Gln2829del |
InFrameDeletion |
19/27 |
- |
2 |
13-32944692-C-T |
c.8485C>T |
p.Gln2829* |
Nonsense |
19/27 |
- |
4 |
13-32944693-A-T |
c.8486A>T |
p.Gln2829Leu |
Missense |
19/27 |
- |
3 |
13-32944693-A-G |
c.8486A>G |
p.Gln2829Arg |
Missense |
19/27 |
- |
3 |
13-32944693-A-C |
c.8486A>C |
p.Gln2829Pro |
Missense |
19/27 |
- |
2 |
13-32944694-G-A |
c.8487G>A |
p.Gln2829Gln |
Synonymous |
19/27 |
- |
1 |
13-32944695-G-A |
c.8487+1G>A |
- |
IntronicSNV |
- |
19/26 |
5 |
13-32944697-A-G |
c.8487+3A>G |
- |
IntronicSNV |
- |
19/26 |
2 |
13-32944702-G-A |
c.8487+8G>A |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32944709-T-C |
c.8487+15T>C |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32944713-A-G |
c.8487+19A>G |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32944725-ATTTCTTTCTTTT-A |
c.8487+31_8487+42del |
- |
IntronicDeletion |
- |
19/26 |
1 |
13-32944741-C-A |
c.8487+47C>A |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32944741-C-T |
c.8487+47C>T |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32944741-C-G |
c.8487+47C>G |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32945045-TGAATGT-T |
c.8488-48_8488-43del |
- |
IntronicDeletion |
- |
19/26 |
1 |
13-32945084-T-G |
c.8488-9T>G |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32945088-T-C |
c.8488-5T>C |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32945091-A-G |
c.8488-2A>G |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32945092-G-A |
c.8488-1G>A |
- |
IntronicSNV |
- |
19/26 |
13 |
13-32945092-G-T |
c.8488-1G>T |
- |
IntronicSNV |
- |
19/26 |
1 |
13-32945093-GTGGATGGAGAAG-G |
c.8488_8499del |
p.Trp2830_Lys2833del |
InFrameDeletion |
20/27 |
- |
1 |
13-32945094-G-A |
c.8489G>A |
p.Trp2830* |
Nonsense |
20/27 |
- |
2 |
13-32945094-TGG-T |
c.8489_8490del |
p.Trp2830Tyrfs*14 |
SpliceAcceptorDeletion |
20/27 |
- |
1 |
13-32945095-GGATGGAGAAGACATCATCTGGATTATACAT-G |
c.8490_8519del |
p.Trp2830_Ile2840delins* |
MultiAAMissense |
20/27 |
- |
1 |
13-32945103-AAGA-A |
c.8498_8500del |
p.Lys2833del |
InFrameDeletion |
20/27 |
- |
2 |
13-32945108-T-C |
c.8503T>C |
p.Ser2835Pro |
Missense |
20/27 |
- |
7 |
13-32945109-C-A |
c.8504C>A |
p.Ser2835* |
Nonsense |
20/27 |
- |
7 |
13-32945109-C-G |
c.8504C>G |
p.Ser2835* |
Nonsense |
20/27 |
- |
5 |
13-32945115-G-A |
c.8510G>A |
p.Gly2837Glu |
Missense |
20/27 |
- |
1 |
13-32945117-T-A |
c.8512T>A |
p.Leu2838Ile |
Missense |
20/27 |
- |
1 |
13-32945122-C-A |
c.8517C>A |
p.Tyr2839* |
Nonsense |
20/27 |
- |
4 |
13-32945123-CA-C |
c.8518del |
p.Ile2840Tyrfs*23 |
Frameshift |
20/27 |
- |
1 |
13-32945123-A-G |
c.8518A>G |
p.Ile2840Val |
Missense |
20/27 |
- |
1 |
13-32945129-C-T |
c.8524C>T |
p.Arg2842Cys |
Missense |
20/27 |
- |
6 |
13-32945130-G-A |
c.8525G>A |
p.Arg2842His |
Missense |
20/27 |
- |
7 |
13-32945130-G-T |
c.8525G>T |
p.Arg2842Leu |
Missense |
20/27 |
- |
4 |
13-32945130-G-C |
c.8525G>C |
p.Arg2842Pro |
Missense |
20/27 |
- |
1 |
13-32945134-T-TT |
c.8529dup |
p.Glu2844* |
Nonsense |
20/27 |
- |
2 |
13-32945135-G-T |
c.8530G>T |
p.Glu2844* |
Nonsense |
20/27 |
- |
1 |
13-32945137-AAA-A |
c.8532_8533del |
p.Glu2846Glyfs*22 |
Frameshift |
20/27 |
- |
2 |
13-32945140-GAGAG-G |
c.8535_8538del |
p.Glu2846Lysfs*16 |
Frameshift |
20/27 |
- |
1 |
13-32945142-GAG-G |
c.8537_8538del |
p.Glu2846Glyfs*22 |
Frameshift |
20/27 |
- |
15 |
13-32945144-G-A |
c.8539G>A |
p.Glu2847Lys |
Missense |
20/27 |
- |
1 |
13-32945150-AAA-A |
c.8545_8546del |
p.Lys2849Glyfs*19 |
Frameshift |
20/27 |
- |
1 |
13-32945150-A-G |
c.8545A>G |
p.Lys2849Glu |
Missense |
20/27 |
- |
1 |
13-32945153-GGAAG-G |
c.8548_8551del |
p.Glu2850Glnfs*12 |
Frameshift |
20/27 |
- |
1 |
13-32945153-G-A |
c.8548G>A |
p.Glu2850Lys |
Missense |
20/27 |
- |
1 |
13-32945157-C-T |
c.8552C>T |
p.Ala2851Val |
Missense |
20/27 |
- |
2 |
13-32945160-C-T |
c.8555C>T |
p.Ala2852Val |
Missense |
20/27 |
- |
1 |
13-32945165-AT-A |
c.8560del |
p.Tyr2854Metfs*9 |
Frameshift |
20/27 |
- |
1 |
13-32945172-A-G |
c.8567A>G |
p.Glu2856Gly |
Missense |
20/27 |
- |
1 |
13-32945172-A-C |
c.8567A>C |
p.Glu2856Ala |
Missense |
20/27 |
- |
20 |
13-32945177-CC-C |
c.8572del |
p.Gln2858Asnfs*5 |
Frameshift |
20/27 |
- |
1 |
13-32945177-C-T |
c.8572C>T |
p.Gln2858* |
Nonsense |
20/27 |
- |
1 |
13-32945178-A-G |
c.8573A>G |
p.Gln2858Arg |
Missense |
20/27 |
- |
4 |
13-32945179-A-AA |
c.8574dup |
p.Gln2859Thrfs*10 |
Frameshift |
20/27 |
- |
1 |
13-32945179-A-T |
c.8574A>T |
p.Gln2858His |
Missense |
20/27 |
- |
2 |
13-32945180-C-T |
c.8575C>T |
p.Gln2859* |
Nonsense |
20/27 |
- |
4 |
13-32945180-ACAAAAGAGACTAGAAGCCTTATTCACTAAA-A |
c.8575_8604del |
p.Gln2859_Lys2868del |
InFrameDeletion |
20/27 |
- |
1 |
13-32945180-AC-A |
c.8575del |
p.Gln2859Lysfs*4 |
Frameshift |
20/27 |
- |
7 |
13-32945184-A-C |
c.8579A>C |
p.Lys2860Thr |
Missense |
20/27 |
- |
2 |
13-32945184-AA-A |
c.8579del |
p.Lys2860Argfs*3 |
Frameshift |
20/27 |
- |
1 |
13-32945190-T-TT |
c.8585dup |
p.Glu2863Argfs*6 |
Frameshift |
20/27 |
- |
1 |
13-32945190-T-C |
c.8585T>C |
p.Leu2862Pro |
Missense |
20/27 |
- |
1 |
13-32945194-A-AA |
c.8589dup |
p.Ala2864Serfs*5 |
Frameshift |
20/27 |
- |
2 |
13-32945198-T-G |
c.8593T>G |
p.Leu2865Val |
Missense |
20/27 |
- |
4 |
13-32945199-T-A |
c.8594T>A |
p.Leu2865* |
Nonsense |
20/27 |
- |
1 |
13-32945200-A-C |
c.8595A>C |
p.Leu2865Phe |
Missense |
20/27 |
- |
1 |
13-32945200-A-T |
c.8595A>T |
p.Leu2865Phe |
Missense |
20/27 |
- |
1 |
13-32945204-A-C |
c.8599A>C |
p.Thr2867Pro |
Missense |
20/27 |
- |
1 |
13-32945219-G-T |
c.8614G>T |
p.Glu2872* |
Nonsense |
20/27 |
- |
1 |
13-32945223-T-G |
c.8618T>G |
p.Phe2873Cys |
Missense |
20/27 |
- |
1 |
13-32945228-G-T |
c.8623G>T |
p.Glu2875* |
Nonsense |
20/27 |
- |
1 |
13-32945234-G-T |
c.8629G>T |
p.Glu2877* |
Nonsense |
20/27 |
- |
2 |
13-32945235-A-G |
c.8630A>G |
p.Glu2877Gly |
Missense |
20/27 |
- |
1 |
13-32945238-G-A |
c.8632+1G>A |
- |
IntronicSNV |
- |
20/26 |
5 |
13-32945242-A-G |
c.8632+5A>G |
- |
IntronicSNV |
- |
20/26 |
1 |
13-32945932-C-T |
c.8632+695C>T |
- |
IntronicSNV |
- |
20/26 |
1 |
13-32950791-C-G |
c.8633-16C>G |
- |
IntronicSNV |
- |
20/26 |
1 |
13-32950807-A-G |
c.8633A>G |
p.Glu2878Gly |
Missense |
21/27 |
- |
1 |
13-32950807-GAAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCT-G |
c.8633_8691del |
p.Glu2878Valfs*9 |
Unclassified |
21/27 |
- |
1 |
13-32950810-AA-A |
c.8636del |
p.Asn2879Thrfs*12 |
Frameshift |
21/27 |
- |
1 |
13-32950816-C-CTTTT |
c.8642_8643insTTTT |
p.Lys2882Phefs*26 |
Frameshift |
21/27 |
- |
3 |
13-32950822-CC-C |
c.8648del |
p.Pro2883Hisfs*8 |
Frameshift |
21/27 |
- |
1 |
13-32950826-T-G |
c.8652T>G |
p.Tyr2884* |
Nonsense |
21/27 |
- |
1 |
13-32950826-T-A |
c.8652T>A |
p.Tyr2884* |
Nonsense |
21/27 |
- |
1 |
13-32950833-T-G |
c.8659T>G |
p.Ser2887Ala |
Missense |
21/27 |
- |
1 |
13-32950836-C-T |
c.8662C>T |
p.Arg2888Cys |
Missense |
21/27 |
- |
7 |
13-32950836-CG-GC |
c.8662_8663delinsGC |
p.Arg2888Ala |
Missense |
21/27 |
- |
1 |
13-32950843-T-TT |
c.8669dup |
p.Thr2891Asnfs*16 |
Frameshift |
21/27 |
- |
1 |
13-32950846-C-A |
c.8672C>A |
p.Thr2891Lys |
Missense |
21/27 |
- |
1 |
13-32950851-C-T |
c.8677C>T |
p.Gln2893* |
Nonsense |
21/27 |
- |
1 |
13-32950854-C-T |
c.8680C>T |
p.Gln2894* |
Nonsense |
21/27 |
- |
1 |
13-32950860-C-T |
c.8686C>T |
p.Arg2896Cys |
Missense |
21/27 |
- |
2 |
13-32950861-G-A |
c.8687G>A |
p.Arg2896His |
Missense |
21/27 |
- |
2 |
13-32950869-C-T |
c.8695C>T |
p.Gln2899* |
Nonsense |
21/27 |
- |
2 |
13-32950871-AAGATGGTGCAGAGCTTTATGAAGCAGTGAA-A |
c.8697_8726del |
p.Asp2900_Lys2909del |
InFrameDeletion |
21/27 |
- |
1 |
13-32950876-G-A |
c.8702G>A |
p.Gly2901Asp |
Missense |
21/27 |
- |
8 |
13-32950878-G-A |
c.8704G>A |
p.Ala2902Thr |
Missense |
21/27 |
- |
1 |
13-32950881-G-T |
c.8707G>T |
p.Glu2903* |
Nonsense |
21/27 |
- |
1 |
13-32950887-TT-T |
c.8713del |
p.Tyr2905Metfs*4 |
Frameshift |
21/27 |
- |
2 |
13-32950891-GAA-G |
c.8717_8718del |
p.Glu2906Glyfs*12 |
Frameshift |
21/27 |
- |
2 |
13-32950897-GTGAAGAATGCAGCAGACCCAGCTTACCTTG-G |
c.8723_8752del |
p.Val2908_Leu2917del |
InFrameDeletion |
21/27 |
- |
1 |
13-32950897-T-G |
c.8723T>G |
p.Val2908Gly |
Missense |
21/27 |
- |
9 |
13-32950904-AT-A |
c.8730del |
p.Asn2910Lysfs*17 |
Frameshift |
21/27 |
- |
1 |
13-32950906-C-A |
c.8732C>A |
p.Ala2911Glu |
Missense |
21/27 |
- |
3 |
13-32950908-G-A |
c.8734G>A |
p.Ala2912Thr |
Missense |
21/27 |
- |
1 |
13-32950909-C-T |
c.8735C>T |
p.Ala2912Val |
Missense |
21/27 |
- |
1 |
13-32950910-CAGACCCAGC-C |
c.8736_8744del |
p.Asp2913_Ala2915del |
InFrameDeletion |
21/27 |
- |
1 |
13-32950911-G-C |
c.8737G>C |
p.Asp2913His |
Missense |
21/27 |
- |
1 |
13-32950912-A-G |
c.8738A>G |
p.Asp2913Gly |
Missense |
21/27 |
- |
1 |
13-32950913-C-G |
c.8739C>G |
p.Asp2913Glu |
Missense |
21/27 |
- |
2 |
13-32950917-GC-TG |
c.8743_8744delinsTG |
p.Ala2915Cys |
Missense |
21/27 |
- |
1 |
13-32950928-G-A |
c.8754G>A |
p.Glu2918Glu |
Synonymous |
21/27 |
- |
4 |
13-32950929-G-A |
c.8754+1G>A |
- |
IntronicSNV |
- |
21/26 |
7 |
13-32950929-G-T |
c.8754+1G>T |
- |
IntronicSNV |
- |
21/26 |
1 |
13-32950931-G-C |
c.8754+3G>C |
- |
IntronicSNV |
- |
21/26 |
1 |
13-32950932-A-G |
c.8754+4A>G |
- |
IntronicSNV |
- |
21/26 |
10 |
13-32950933-G-A |
c.8754+5G>A |
- |
IntronicSNV |
- |
21/26 |
3 |
13-32950933-G-T |
c.8754+5G>T |
- |
IntronicSNV |
- |
21/26 |
2 |
13-32951115-C-T |
c.8754+187C>T |
- |
IntronicSNV |
- |
21/26 |
1 |
13-32951454-C-T |
c.8754+526C>T |
- |
IntronicSNV |
- |
21/26 |
1 |
13-32951454-C-A |
c.8754+526C>A |
- |
IntronicSNV |
- |
21/26 |
1 |
13-32953182-A-G |
c.8755-272A>G |
- |
IntronicSNV |
- |
21/26 |
5 |
13-32953388-T-C |
c.8755-66T>C |
- |
IntronicSNV |
- |
21/26 |
11 |
13-32953453-G-A |
c.8755-1G>A |
- |
IntronicSNV |
- |
21/26 |
5 |
13-32953454-GGG-G |
c.8755_8756del |
p.Gly2919Leufs*4 |
SpliceAcceptorDeletion |
22/27 |
- |
1 |
13-32953454-G-A |
c.8755G>A |
p.Gly2919Ser |
Missense |
22/27 |
- |
1 |
13-32953454-G-T |
c.8755G>T |
p.Gly2919Cys |
Missense |
22/27 |
- |
1 |
13-32953455-GG-G |
c.8756del |
p.Gly2919Valfs*8 |
Frameshift |
22/27 |
- |
4 |
13-32953455-GGT-G |
c.8756_8757del |
p.Gly2919Valfs*4 |
SpliceAcceptorDeletion |
22/27 |
- |
3 |
13-32953455-GGTTAT-G |
c.8756_8760del |
p.Gly2919Valfs*3 |
SpliceAcceptorDeletion |
22/27 |
- |
1 |
13-32953463-CAG-C |
c.8764_8765del |
p.Ser2922* |
Frameshift |
22/27 |
- |
2 |
13-32953463-A-G |
c.8764A>G |
p.Ser2922Gly |
Missense |
22/27 |
- |
1 |
13-32953472-C-A |
c.8773C>A |
p.Gln2925Lys |
Missense |
22/27 |
- |
2 |
13-32953472-C-T |
c.8773C>T |
p.Gln2925* |
Nonsense |
22/27 |
- |
3 |
13-32953473-A-G |
c.8774A>G |
p.Gln2925Arg |
Missense |
22/27 |
- |
3 |
13-32953474-G-C |
c.8775G>C |
p.Gln2925His |
Missense |
22/27 |
- |
3 |
13-32953476-T-A |
c.8777T>A |
p.Leu2926* |
Nonsense |
22/27 |
- |
1 |
13-32953485-T-G |
c.8786T>G |
p.Leu2929Trp |
Missense |
22/27 |
- |
1 |
13-32953490-A-G |
c.8791A>G |
p.Asn2931Asp |
Missense |
22/27 |
- |
1 |
13-32953496-CA-C |
c.8797del |
p.Arg2933Glyfs*4 |
Frameshift |
22/27 |
- |
1 |
13-32953499-GC-G |
c.8800del |
p.Gln2934Lysfs*3 |
Frameshift |
22/27 |
- |
1 |
13-32953515-A-G |
c.8816A>G |
p.Lys2939Arg |
Missense |
22/27 |
- |
1 |
13-32953516-AGAAA-A |
c.8817_8820del |
p.Lys2939Asnfs*36 |
Frameshift |
22/27 |
- |
3 |
13-32953519-AACAA-A |
c.8820_8823del |
p.Gln2941Leufs*34 |
Frameshift |
22/27 |
- |
1 |
13-32953522-A-AA |
c.8823dup |
p.Ala2942Serfs*8 |
Frameshift |
22/27 |
- |
1 |
13-32953526-C-T |
c.8827C>T |
p.Gln2943* |
Nonsense |
22/27 |
- |
1 |
13-32953529-A-T |
c.8830A>T |
p.Ile2944Phe |
Missense |
22/27 |
- |
11 |
13-32953538-G-A |
c.8839G>A |
p.Glu2947Lys |
Missense |
22/27 |
- |
2 |
13-32953541-AA-A |
c.8842del |
p.Ile2948Leufs*28 |
Frameshift |
22/27 |
- |
2 |
13-32953549-G-T |
c.8850G>T |
p.Lys2950Asn |
Missense |
22/27 |
- |
19 |
13-32953550-G-A |
c.8851G>A |
p.Ala2951Thr |
Missense |
22/27 |
- |
21 |
13-32953557-A-C |
c.8858A>C |
p.Glu2953Ala |
Missense |
22/27 |
- |
1 |
13-32953566-A-C |
c.8867A>C |
p.Glu2956Ala |
Missense |
22/27 |
- |
1 |
13-32953568-C-T |
c.8869C>T |
p.Gln2957* |
Nonsense |
22/27 |
- |
3 |
13-32953577-C-G |
c.8878C>G |
p.Gln2960Glu |
Missense |
22/27 |
- |
1 |
13-32953577-C-T |
c.8878C>T |
p.Gln2960* |
Nonsense |
22/27 |
- |
16 |
13-32953589-A-AA |
c.8890dup |
p.Arg2964Lysfs*54 |
Frameshift |
22/27 |
- |
1 |
13-32953590-G-C |
c.8891G>C |
p.Arg2964Thr |
Missense |
22/27 |
- |
1 |
13-32953592-G-C |
c.8893G>C |
p.Asp2965His |
Missense |
22/27 |
- |
4 |
13-32953593-GA-G |
c.8894del |
p.Asp2965Valfs*11 |
Frameshift |
22/27 |
- |
1 |
13-32953596-T-C |
c.8897T>C |
p.Val2966Ala |
Missense |
22/27 |
- |
1 |
13-32953601-A-G |
c.8902A>G |
p.Thr2968Ala |
Missense |
22/27 |
- |
2 |
13-32953603-CC-C |
c.8904del |
p.Val2969Cysfs*7 |
Frameshift |
22/27 |
- |
8 |
13-32953604-G-A |
c.8905G>A |
p.Val2969Met |
Missense |
22/27 |
- |
6 |
13-32953609-G-A |
c.8910G>A |
p.Trp2970* |
Nonsense |
22/27 |
- |
2 |
13-32953608-G-A |
c.8909G>A |
p.Trp2970* |
Nonsense |
22/27 |
- |
2 |
13-32953610-AA-GC |
c.8911_8912delinsGC |
p.Lys2971Ala |
Missense |
22/27 |
- |
1 |
13-32953610-A-G |
c.8911A>G |
p.Lys2971Glu |
Missense |
22/27 |
- |
1 |
13-32953611-AA-A |
c.8912del |
p.Lys2971Serfs*5 |
Frameshift |
22/27 |
- |
1 |
13-32953614-TT-T |
c.8915del |
p.Leu2972Cysfs*4 |
Frameshift |
22/27 |
- |
2 |
13-32953614-T-G |
c.8915T>G |
p.Leu2972Trp |
Missense |
22/27 |
- |
3 |
13-32953616-C-T |
c.8917C>T |
p.Arg2973Cys |
Missense |
22/27 |
- |
13 |
13-32953623-GT-G |
c.8924del |
p.Val2975Glufs*13 |
Frameshift |
22/27 |
- |
3 |
13-32953629-TA-T |
c.8930del |
p.Tyr2977Phefs*11 |
Frameshift |
22/27 |
- |
1 |
13-32953632-C-G |
c.8933C>G |
p.Ser2978* |
Nonsense |
22/27 |
- |
2 |
13-32953632-C-A |
c.8933C>A |
p.Ser2978* |
Nonsense |
22/27 |
- |
2 |
13-32953639-AA-A |
c.8940del |
p.Glu2981Lysfs*7 |
Frameshift |
22/27 |
- |
1 |
13-32953640-G-T |
c.8941G>T |
p.Glu2981* |
Nonsense |
22/27 |
- |
1 |
13-32953640-G-A |
c.8941G>A |
p.Glu2981Lys |
Missense |
22/27 |
- |
2 |
13-32953641-A-G |
c.8942A>G |
p.Glu2981Gly |
Missense |
22/27 |
- |
2 |
13-32953644-AAA-A |
c.8945_8946del |
p.Lys2982Argfs*35 |
Frameshift |
22/27 |
- |
1 |
13-32953645-A-AA |
c.8946dup |
p.Asp2983Argfs*35 |
Frameshift |
22/27 |
- |
1 |
13-32953645-AA-A |
c.8946del |
p.Asp2983Ilefs*5 |
Frameshift |
22/27 |
- |
4 |
13-32953646-AGA-A |
c.8947_8948del |
p.Asp2983Phefs*34 |
Frameshift |
22/27 |
- |
2 |
13-32953647-GATTCAGGTAAG-G |
c.8948_8953+5del |
- |
SpliceDonorDeletion |
22/27 |
22/26 |
1 |
13-32953649-TT-T |
c.8950del |
p.Ser2984Glnfs*4 |
Frameshift |
22/27 |
- |
1 |
13-32953650-C-T |
c.8951C>T |
p.Ser2984Leu |
Missense |
22/27 |
- |
1 |
13-32953650-C-A |
c.8951C>A |
p.Ser2984* |
Nonsense |
22/27 |
- |
2 |
13-32953650-C-G |
c.8951C>G |
p.Ser2984* |
Nonsense |
22/27 |
- |
6 |
13-32953653-G-T |
c.8953+1G>T |
- |
IntronicSNV |
- |
22/26 |
3 |
13-32953882-AAACA-A |
c.8954-5_8954-2del |
- |
IntronicDeletion |
- |
22/26 |
1 |
13-32953884-C-G |
c.8954-3C>G |
- |
IntronicSNV |
- |
22/26 |
1 |
13-32953889-TATACTGAGTATTTGGCGTCCATCATCAGAT-T |
c.8956_8985del |
p.Ile2986_Asp2995del |
InFrameDeletion |
23/27 |
- |
1 |
13-32953889-A-AA |
c.8956dup |
p.Ile2986Asnfs*32 |
SpliceAcceptorInsertion |
23/27 |
- |
1 |
13-32953889-A-AAA |
c.8956_8957insAA |
p.Ile2986Lysfs*3 |
Frameshift |
23/27 |
- |
1 |
13-32953892-CT-GC |
c.8959_8960delinsGC |
p.Leu2987Ala |
Missense |
23/27 |
- |
1 |
13-32953894-TGAGT-T |
c.8961_8964del |
p.Ser2988Phefs*12 |
Frameshift |
23/27 |
- |
3 |
13-32953895-A-G |
c.8962A>G |
p.Ser2988Gly |
Missense |
23/27 |
- |
5 |
13-32953901-TG-GC |
c.8968_8969delinsGC |
p.Trp2990Ala |
Missense |
23/27 |
- |
3 |
13-32953902-G-A |
c.8969G>A |
p.Trp2990* |
Nonsense |
23/27 |
- |
4 |
13-32953904-C-T |
c.8971C>T |
p.Arg2991Cys |
Missense |
23/27 |
- |
1 |
13-32953904-CG-GC |
c.8971_8972delinsGC |
p.Arg2991Ala |
Missense |
23/27 |
- |
1 |
13-32953905-G-A |
c.8972G>A |
p.Arg2991His |
Missense |
23/27 |
- |
4 |
13-32953908-CCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTT-C |
c.8975_9033del |
p.Pro2992Argfs*6 |
InFrameDeletion |
23/27 |
- |
2 |
13-32953911-C-G |
c.8978C>G |
p.Ser2993* |
Nonsense |
23/27 |
- |
1 |
13-32953911-TCATCAGATTTATAT-T |
c.8978_8991del |
p.Ser2993Phefs*20 |
Frameshift |
23/27 |
- |
1 |
13-32953914-TCAGATTTATATTCTCTGTTAACAGAAGGAA-T |
c.8981_9010del |
p.Ser2994_Lys3004delins* |
MultiAAMissense |
23/27 |
- |
1 |
13-32953920-T-A |
c.8987T>A |
p.Leu2996* |
Nonsense |
23/27 |
- |
1 |
13-32953924-T-G |
c.8991T>G |
p.Tyr2997* |
Nonsense |
23/27 |
- |
1 |
13-32953924-T-A |
c.8991T>A |
p.Tyr2997* |
Nonsense |
23/27 |
- |
1 |
13-32953925-TTCTCTGTTAACAGAAGGAAAGAGATACAGAATTT-T |
c.8992_9025del |
p.Ser2998Ilefs*19 |
Frameshift |
23/27 |
- |
1 |
13-32953931-TT-GC |
c.8998_8999delinsGC |
p.Leu3000Ala |
Missense |
23/27 |
- |
1 |
13-32953932-T-A |
c.8999T>A |
p.Leu3000* |
Nonsense |
23/27 |
- |
1 |
13-32953932-T-G |
c.8999T>G |
p.Leu3000* |
Nonsense |
23/27 |
- |
1 |
13-32953934-AACA-A |
c.9001_9003del |
p.Thr3001del |
InFrameDeletion |
23/27 |
- |
1 |
13-32953937-G-A |
c.9004G>A |
p.Glu3002Lys |
Missense |
23/27 |
- |
20 |
13-32953939-AA-A |
c.9006del |
p.Gly3003Glufs*25 |
Frameshift |
23/27 |
- |
1 |
13-32953939-A-T |
c.9006A>T |
p.Glu3002Asp |
Missense |
23/27 |
- |
7 |
13-32953941-G-A |
c.9008G>A |
p.Gly3003Glu |
Missense |
23/27 |
- |
2 |
13-32953946-AG-GC |
c.9013_9014delinsGC |
p.Arg3005Ala |