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-C |
c.-52A>C |
- |
5_prime_UTR_variant |
1/27 |
- |
13 |
13-32889792-A-G |
c.-52A>G |
- |
5_prime_UTR_variant |
1/27 |
- |
13 |
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 |
11 |
13-32889968-G-T |
c.-40+164G>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890006-G-C |
c.-40+202G>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890026-C-T |
c.-40+222C>T |
- |
intron_variant |
- |
1/26 |
5 |
13-32890026-C-A |
c.-40+222C>A |
- |
intron_variant |
- |
1/26 |
5 |
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 |
13 |
13-32890227-G-T |
c.-39-332G>T |
- |
IntronicSNV |
- |
1/26 |
14 |
13-32890311-C-T |
c.-39-248C>T |
- |
IntronicSNV |
- |
1/26 |
2 |
13-32890378-G-T |
c.-39-181G>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890383-C-T |
c.-39-176C>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890443-G-A |
c.-39-116G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890444-G-A |
c.-39-115G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890445-A-G |
c.-39-114A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890465-T-G |
c.-39-94T>G |
- |
IntronicSNV |
- |
1/26 |
2 |
13-32890468-A-G |
c.-39-91A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890471-A-G |
c.-39-88A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890487-C-T |
c.-39-72C>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890488-T-C |
c.-39-71T>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890495-T-C |
c.-39-64T>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890499-T-C |
c.-39-60T>C |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890511-T-G |
c.-39-48T>G |
- |
IntronicSNV |
- |
1/26 |
2 |
13-32890523-C-G |
c.-39-36C>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890524-C-G |
c.-39-35C>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890525-C-G |
c.-39-34C>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890532-A-G |
c.-39-27A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890548-C-T |
c.-39-11C>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890555-G-T |
c.-39-4G>T |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890557-A-G |
c.-39-2A>G |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890558-G-A |
c.-39-1G>A |
- |
IntronicSNV |
- |
1/26 |
1 |
13-32890560-C-T |
c.-38C>T |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890568-C-T |
c.-30C>T |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890571-A-G |
c.-27A>G |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890572-G-C |
c.-26G>C |
- |
5-UTRSNV |
2/27 |
- |
28 |
13-32890572-G-T |
c.-26G>T |
- |
5-UTRSNV |
2/27 |
- |
29 |
13-32890572-G-A |
c.-26G>A |
- |
5-UTRSNV |
2/27 |
- |
48 |
13-32890573-C-G |
c.-25C>G |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890582-A-G |
c.-16A>G |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890583-A-C |
c.-15A>C |
- |
5-UTRSNV |
2/27 |
- |
2 |
13-32890586-T-C |
c.-12T>C |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890587-C-T |
c.-11C>T |
- |
5-UTRSNV |
2/27 |
- |
5 |
13-32890589-T-C |
c.-9T>C |
- |
5-UTRSNV |
2/27 |
- |
1 |
13-32890598-A-G |
c.1A>G |
p.Met1? |
Missense |
2/27 |
- |
1 |
13-32890598-AATGCCTATTGGATCCAAAGAGAGGCCAACATTTTTTGAAATTTTTAAGACACGCTGCAA-A |
c.1_59del |
p.Met1_?20 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
2/27 |
- |
2 |
13-32890599-T-G |
c.2T>G |
p.Met1? |
Missense |
2/27 |
- |
8 |
13-32890599-T-A |
c.2T>A |
p.Met1? |
Missense |
2/27 |
- |
1 |
13-32890599-T-C |
c.2T>C |
p.Met1? |
Missense |
2/27 |
- |
2 |
13-32890600-G-A |
c.3G>A |
p.Met1? |
Missense |
2/27 |
- |
9 |
13-32890600-TG-T |
c.3del |
p.Met1? |
CdsStartDeletion |
2/27 |
- |
1 |
13-32890602-C-G |
c.5C>G |
p.Pro2Arg |
Missense |
2/27 |
- |
1 |
13-32890606-T-C |
c.9T>C |
p.Ile3Ile |
Synonymous |
2/27 |
- |
1 |
13-32890606-T-A |
c.9T>A |
p.Ile3Ile |
Synonymous |
2/27 |
- |
1 |
13-32890607-G-T |
c.10G>T |
p.Gly4* |
Nonsense |
2/27 |
- |
1 |
13-32890607-G-C |
c.10G>C |
p.Gly4Arg |
Missense |
2/27 |
- |
1 |
13-32890607-G-A |
c.10G>A |
p.Gly4Arg |
Missense |
2/27 |
- |
1 |
13-32890615-AAGAGAGGCCAA-A |
c.18_28del |
p.Lys6Asnfs*4 |
Frameshift |
2/27 |
- |
1 |
13-32890616-G-C |
c.19G>C |
p.Glu7Gln |
Missense |
2/27 |
- |
1 |
13-32890616-G-A |
c.19G>A |
p.Glu7Lys |
Missense |
2/27 |
- |
1 |
13-32890616-G-T |
c.19G>T |
p.Glu7* |
Nonsense |
2/27 |
- |
2 |
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-C-T |
c.26C>T |
p.Pro9Leu |
Missense |
2/27 |
- |
1 |
13-32890623-CC-C |
c.26del |
p.Pro9Glnfs*16 |
Frameshift |
2/27 |
- |
2 |
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 |
- |
23 |
13-32890631-T-G |
c.34T>G |
p.Phe12Val |
Missense |
2/27 |
- |
1 |
13-32890631-TTT-AAG |
c.34_36delinsAAG |
p.Phe12Lys |
Missense |
2/27 |
- |
3 |
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 |
13-32890634-GA-AG |
c.37_38delinsAG |
p.Glu13Arg |
Missense |
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 |
13-32890646-A-G |
c.49A>G |
p.Thr17Ala |
Missense |
2/27 |
- |
1 |
13-32890647-C-T |
c.50C>T |
p.Thr17Ile |
Missense |
2/27 |
- |
1 |
13-32890647-C-A |
c.50C>A |
p.Thr17Lys |
Missense |
2/27 |
- |
1 |
13-32890648-CAC-C |
c.51_52del |
p.Arg18Leufs*12 |
Frameshift |
2/27 |
- |
4 |
13-32890648-A-AA |
c.51dup |
p.Arg18Thrfs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890649-C-CA |
c.52_53insA |
p.Arg18Glnfs*13 |
Frameshift |
2/27 |
- |
1 |
13-32890649-C-T |
c.52C>T |
p.Arg18Cys |
Missense |
2/27 |
- |
1 |
13-32890650-G-C |
c.53G>C |
p.Arg18Pro |
Missense |
2/27 |
- |
5 |
13-32890650-G-A |
c.53G>A |
p.Arg18His |
Missense |
2/27 |
- |
16 |
13-32890653-G-A |
c.56G>A |
p.Cys19Tyr |
Missense |
2/27 |
- |
1 |
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 |
13-32890660-AA-A |
c.63del |
p.Ala22Glnfs*3 |
Frameshift |
2/27 |
- |
1 |
13-32890661-G-A |
c.64G>A |
p.Ala22Thr |
Missense |
2/27 |
- |
2 |
13-32890662-C-T |
c.65C>T |
p.Ala22Val |
Missense |
2/27 |
- |
2 |
13-32890663-CAG-C |
c.66_67del |
p.Asp23Phefs*7 |
SpliceDonorDeletion |
2/27 |
- |
6 |
13-32890663-A-AA |
c.66dup |
p.Asp23Argfs*8 |
SpliceDonorInsertion |
2/27 |
- |
2 |
13-32890664-G-T |
c.67G>T |
p.Asp23Tyr |
Missense |
2/27 |
- |
1 |
13-32890664-G-C |
c.67G>C |
p.Asp23His |
Missense |
2/27 |
- |
1 |
13-32890664-G-A |
c.67G>A |
p.Asp23Asn |
Missense |
2/27 |
- |
2 |
13-32890665-G-A |
c.67+1G>A |
- |
IntronicSNV |
- |
2/26 |
6 |
13-32890665-G-T |
c.67+1G>T |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890665-G-C |
c.67+1G>C |
- |
IntronicSNV |
- |
2/26 |
2 |
13-32890666-T-C |
c.67+2T>C |
- |
IntronicSNV |
- |
2/26 |
5 |
13-32890666-T-G |
c.67+2T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890666-T-A |
c.67+2T>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890667-A-G |
c.67+3A>G |
- |
IntronicSNV |
- |
2/26 |
3 |
13-32890669-T-A |
c.67+5T>A |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32890681-T-C |
c.67+17T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
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 |
4 |
13-32891706-A-C |
c.67+1042A>C |
- |
IntronicSNV |
- |
2/26 |
4 |
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 |
13-32892820-T-C |
c.68-394T>C |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893193-T-G |
c.68-21T>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893197-A-G |
c.68-17A>G |
- |
IntronicSNV |
- |
2/26 |
1 |
13-32893207-TT-T |
c.68-7del |
- |
IntronicDeletion |
- |
2/26 |
6 |
13-32893207-T-TT |
c.68-7dup |
- |
IntronicInsertion |
- |
2/26 |
1 |
13-32893207-T-A |
c.68-7T>A |
- |
IntronicSNV |
- |
2/26 |
23 |
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 |
- |
2 |
13-32893214-GAT-G |
c.68_69del |
p.Asp23Valfs*7 |
SpliceAcceptorDeletion |
3/27 |
- |
3 |
13-32893215-T-TAG |
c.69_70insAG |
p.Leu24Serfs*2 |
SpliceAcceptorInsertion |
3/27 |
- |
1 |
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-T |
c.73G>T |
p.Gly25* |
Nonsense |
3/27 |
- |
2 |
13-32893219-G-A |
c.73G>A |
p.Gly25Arg |
Missense |
3/27 |
- |
16 |
13-32893220-G-A |
c.74G>A |
p.Gly25Glu |
Missense |
3/27 |
- |
1 |
13-32893223-C-T |
c.77C>T |
p.Pro26Leu |
Missense |
3/27 |
- |
1 |
13-32893224-A-G |
c.78A>G |
p.Pro26Pro |
Synonymous |
3/27 |
- |
2 |
13-32893224-A-T |
c.78A>T |
p.Pro26Pro |
Synonymous |
3/27 |
- |
1 |
13-32893224-A-C |
c.78A>C |
p.Pro26Pro |
Synonymous |
3/27 |
- |
1 |
13-32893225-A-G |
c.79A>G |
p.Ile27Val |
Missense |
3/27 |
- |
4 |
13-32893225-ATA-TGT |
c.79_81delinsTGT |
p.Ile27Cys |
Missense |
3/27 |
- |
1 |
13-32893228-A-G |
c.82A>G |
p.Ser28Gly |
Missense |
3/27 |
- |
1 |
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 |
13-32893236-T-C |
c.90T>C |
p.Asn30Asn |
Synonymous |
3/27 |
- |
1 |
13-32893237-T-C |
c.91T>C |
p.Trp31Arg |
Missense |
3/27 |
- |
10 |
13-32893237-T-G |
c.91T>G |
p.Trp31Gly |
Missense |
3/27 |
- |
5 |
13-32893239-G-A |
c.93G>A |
p.Trp31* |
Nonsense |
3/27 |
- |
6 |
13-32893238-G-T |
c.92G>T |
p.Trp31Leu |
Missense |
3/27 |
- |
2 |
13-32893238-G-A |
c.92G>A |
p.Trp31* |
Nonsense |
3/27 |
- |
6 |
13-32893239-G-T |
c.93G>T |
p.Trp31Cys |
Missense |
3/27 |
- |
15 |
13-32893242-T-C |
c.96T>C |
p.Phe32Phe |
Synonymous |
3/27 |
- |
1 |
13-32893243-G-T |
c.97G>T |
p.Glu33* |
Nonsense |
3/27 |
- |
2 |
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 |
13-32893246-G-T |
c.100G>T |
p.Glu34* |
Nonsense |
3/27 |
- |
1 |
13-32893246-G-A |
c.100G>A |
p.Glu34Lys |
Missense |
3/27 |
- |
1 |
13-32893249-CT-GC |
c.103_104delinsGC |
p.Leu35Ala |
Missense |
3/27 |
- |
2 |
13-32893249-C-T |
c.103C>T |
p.Leu35Phe |
Missense |
3/27 |
- |
1 |
13-32893250-T-C |
c.104T>C |
p.Leu35Pro |
Missense |
3/27 |
- |
1 |
13-32893253-C-A |
c.107C>A |
p.Ser36Tyr |
Missense |
3/27 |
- |
1 |
13-32893253-C-T |
c.107C>T |
p.Ser36Phe |
Missense |
3/27 |
- |
1 |
13-32893255-T-G |
c.109T>G |
p.Ser37Ala |
Missense |
3/27 |
- |
1 |
13-32893255-T-C |
c.109T>C |
p.Ser37Pro |
Missense |
3/27 |
- |
1 |
13-32893256-C-T |
c.110C>T |
p.Ser37Leu |
Missense |
3/27 |
- |
1 |
13-32893258-G-T |
c.112G>T |
p.Glu38* |
Nonsense |
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 |
13-32893264-C-T |
c.118C>T |
p.Pro40Ser |
Missense |
3/27 |
- |
1 |
13-32893266-A-AA |
c.120dup |
p.Pro41Thrfs*3 |
Frameshift |
3/27 |
- |
1 |
13-32893266-A-G |
c.120A>G |
p.Pro40Pro |
Synonymous |
3/27 |
- |
1 |
13-32893267-C-T |
c.121C>T |
p.Pro41Ser |
Missense |
3/27 |
- |
1 |
13-32893268-C-T |
c.122C>T |
p.Pro41Leu |
Missense |
3/27 |
- |
2 |
13-32893271-A-T |
c.125A>T |
p.Tyr42Phe |
Missense |
3/27 |
- |
1 |
13-32893271-A-G |
c.125A>G |
p.Tyr42Cys |
Missense |
3/27 |
- |
52 |
13-32893271-A-C |
c.125A>C |
p.Tyr42Ser |
Missense |
3/27 |
- |
1 |
13-32893276-TC-GG |
c.130_131delinsGG |
p.Ser44Gly |
Missense |
3/27 |
- |
1 |
13-32893276-T-TA |
c.130_131insA |
p.Ser44Tyrfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893283-C-A |
c.137C>A |
p.Pro46His |
Missense |
3/27 |
- |
1 |
13-32893285-GCA-TGT |
c.139_141delinsTGT |
p.Ala47Cys |
Missense |
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-C |
c.145G>C |
p.Glu49Gln |
Missense |
3/27 |
- |
3 |
13-32893291-G-T |
c.145G>T |
p.Glu49* |
Nonsense |
3/27 |
- |
24 |
13-32893294-TC-AA |
c.148_149delinsAA |
p.Ser50Asn |
Missense |
3/27 |
- |
1 |
13-32893297-TGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATC-T |
c.151_209del |
p.Glu51Leufs*2 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
3/27 |
- |
1 |
13-32893300-C-T |
c.154C>T |
p.His52Tyr |
Missense |
3/27 |
- |
3 |
13-32893302-ATAAAAACA-A |
c.156_163del |
p.His52Glnfs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893304-A-G |
c.158A>G |
p.Lys53Arg |
Missense |
3/27 |
- |
1 |
13-32893307-AA-A |
c.161del |
p.Asn54Thrfs*26 |
Frameshift |
3/27 |
- |
3 |
13-32893307-A-T |
c.161A>T |
p.Asn54Ile |
Missense |
3/27 |
- |
1 |
13-32893307-A-AA |
c.161dup |
p.Asn54Lysfs*10 |
Frameshift |
3/27 |
- |
39 |
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 |
- |
3 |
13-32893313-A-G |
c.167A>G |
p.Asn56Ser |
Missense |
3/27 |
- |
1 |
13-32893316-A-AA |
c.170dup |
p.Tyr57* |
Nonsense |
3/27 |
- |
1 |
13-32893316-A-G |
c.170A>G |
p.Tyr57Cys |
Missense |
3/27 |
- |
1 |
13-32893317-C-G |
c.171C>G |
p.Tyr57* |
Nonsense |
3/27 |
- |
1 |
13-32893317-C-T |
c.171C>T |
p.Tyr57Tyr |
Synonymous |
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 |
- |
2 |
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 |
- |
3 |
13-32893321-C-G |
c.175C>G |
p.Pro59Ala |
Missense |
3/27 |
- |
3 |
13-32893321-C-A |
c.175C>A |
p.Pro59Thr |
Missense |
3/27 |
- |
1 |
13-32893325-A-G |
c.179A>G |
p.Asn60Ser |
Missense |
3/27 |
- |
5 |
13-32893328-CT-C |
c.182del |
p.Leu61Hisfs*19 |
Frameshift |
3/27 |
- |
1 |
13-32893328-T-C |
c.182T>C |
p.Leu61Pro |
Missense |
3/27 |
- |
1 |
13-32893330-T-A |
c.184T>A |
p.Phe62Ile |
Missense |
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 |
13-32893339-C-T |
c.193C>T |
p.Pro65Ser |
Missense |
3/27 |
- |
1 |
13-32893342-C-T |
c.196C>T |
p.Gln66* |
Nonsense |
3/27 |
- |
1 |
13-32893342-C-G |
c.196C>G |
p.Gln66Glu |
Missense |
3/27 |
- |
1 |
13-32893344-A-G |
c.198A>G |
p.Gln66Gln |
Synonymous |
3/27 |
- |
2 |
13-32893346-AGGAAACCATCTTA-A |
c.200_212del |
p.Arg67Ilefs*9 |
Frameshift |
3/27 |
- |
1 |
13-32893349-A-C |
c.203A>C |
p.Lys68Thr |
Missense |
3/27 |
- |
1 |
13-32893350-A-G |
c.204A>G |
p.Lys68Lys |
Synonymous |
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-T |
c.215A>T |
p.Asn72Ile |
Missense |
3/27 |
- |
2 |
13-32893361-A-G |
c.215A>G |
p.Asn72Ser |
Missense |
3/27 |
- |
4 |
13-32893366-CTG-TTT |
c.220_222delinsTTT |
p.Leu74Phe |
Missense |
3/27 |
- |
1 |
13-32893368-G-C |
c.222G>C |
p.Leu74Leu |
Synonymous |
3/27 |
- |
2 |
13-32893368-G-A |
c.222G>A |
p.Leu74Leu |
Synonymous |
3/27 |
- |
2 |
13-32893369-G-C |
c.223G>C |
p.Ala75Pro |
Missense |
3/27 |
- |
26 |
13-32893369-GC-TG |
c.223_224delinsTG |
p.Ala75Cys |
Missense |
3/27 |
- |
1 |
13-32893370-C-T |
c.224C>T |
p.Ala75Val |
Missense |
3/27 |
- |
1 |
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 |
- |
3 |
13-32893377-T-G |
c.231T>G |
p.Thr77Thr |
Synonymous |
3/27 |
- |
6 |
13-32893379-C-T |
c.233C>T |
p.Pro78Leu |
Missense |
3/27 |
- |
1 |
13-32893381-A-G |
c.235A>G |
p.Ile79Val |
Missense |
3/27 |
- |
1 |
13-32893386-A-G |
c.240A>G |
p.Ile80Met |
Missense |
3/27 |
- |
1 |
13-32893387-T-A |
c.241T>A |
p.Phe81Ile |
Missense |
3/27 |
- |
1 |
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 |
- |
6 |
13-32893397-A-C |
c.251A>C |
p.Gln84Pro |
Missense |
3/27 |
- |
1 |
13-32893406-CT-TG |
c.260_261delinsTG |
p.Thr87Met |
Missense |
3/27 |
- |
1 |
13-32893408-C-G |
c.262C>G |
p.Leu88Val |
Missense |
3/27 |
- |
1 |
13-32893408-CT-TA |
c.262_263delinsTA |
p.Leu88* |
Nonsense |
3/27 |
- |
1 |
13-32893408-TCT-T |
c.262_263del |
p.Leu88Alafs*12 |
Frameshift |
3/27 |
- |
9 |
13-32893412-C-A |
c.266C>A |
p.Pro89Gln |
Missense |
3/27 |
- |
1 |
13-32893412-C-T |
c.266C>T |
p.Pro89Leu |
Missense |
3/27 |
- |
2 |
13-32893413-G-T |
c.267G>T |
p.Pro89Pro |
Synonymous |
3/27 |
- |
2 |
13-32893413-G-A |
c.267G>A |
p.Pro89Pro |
Synonymous |
3/27 |
- |
3 |
13-32893413-G-C |
c.267G>C |
p.Pro89Pro |
Synonymous |
3/27 |
- |
2 |
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 |
- |
4 |
13-32893421-CAA-C |
c.275_276del |
p.Gln92Leufs*8 |
Frameshift |
3/27 |
- |
1 |
13-32893421-A-G |
c.275A>G |
p.Gln92Arg |
Missense |
3/27 |
- |
1 |
13-32893422-A-G |
c.276A>G |
p.Gln92Gln |
Synonymous |
3/27 |
- |
1 |
13-32893422-A-AA |
c.276dup |
p.Ser93Ilefs*8 |
Frameshift |
3/27 |
- |
5 |
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 |
- |
5 |
13-32893426-C-G |
c.280C>G |
p.Pro94Ala |
Missense |
3/27 |
- |
1 |
13-32893429-GTA-ATG |
c.283_285delinsATG |
p.Val95Met |
Missense |
3/27 |
- |
1 |
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 |
- |
6 |
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 |
13-32893440-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-A-AA |
c.306dup |
p.Leu103Ilefs*10 |
Frameshift |
3/27 |
- |
3 |
13-32893452-AA-A |
c.306del |
p.Lys102Asnfs*2 |
Frameshift |
3/27 |
- |
1 |
13-32893453-T-A |
c.307T>A |
p.Leu103Ile |
Missense |
3/27 |
- |
2 |
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-G |
c.314T>G |
p.Leu105* |
Nonsense |
3/27 |
- |
2 |
13-32893460-T-A |
c.314T>A |
p.Leu105* |
Nonsense |
3/27 |
- |
2 |
13-32893462-G-C |
c.316G>C |
p.Gly106Arg |
Missense |
3/27 |
- |
1 |
13-32893462-G-A |
c.316G>A |
p.Gly106Arg |
Missense |
3/27 |
- |
1 |
13-32893463-G-T |
c.316+1G>T |
- |
IntronicSNV |
- |
3/26 |
3 |
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 |
3 |
13-32893471-T-A |
c.316+9T>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32893474-A-G |
c.316+12A>G |
- |
IntronicSNV |
- |
3/26 |
2 |
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 |
6 |
13-32894484-G-A |
c.316+1022G>A |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32894738-G-A |
c.316+1276G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32895377-G-C |
c.316+1915G>C |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32896676-G-A |
c.317-2537G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32896722-C-T |
c.317-2491C>T |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32896846-G-A |
c.317-2367G>A |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32898238-G-A |
c.317-975G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899159-C-G |
c.317-54C>G |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899203-A-G |
c.317-10A>G |
- |
IntronicSNV |
- |
3/26 |
2 |
13-32899212-G-A |
c.317-1G>A |
- |
IntronicSNV |
- |
3/26 |
1 |
13-32899213-G-T |
c.317G>T |
p.Gly106Val |
Missense |
4/27 |
- |
1 |
13-32899214-GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATC-G |
c.321_379del |
p.Arg107Serfs*3 |
Unclassified |
4/27 |
- |
1 |
13-32899215-AGG-CAT |
c.319_321delinsCAT |
p.Arg107His |
Missense |
4/27 |
- |
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 |
13-32899231-G-C |
c.335G>C |
p.Ser112Thr |
Missense |
4/27 |
- |
1 |
13-32899233-AG-GC |
c.337_338delinsGC |
p.Arg113Ala |
Missense |
4/27 |
- |
2 |
13-32899233-A-T |
c.337A>T |
p.Arg113* |
Nonsense |
4/27 |
- |
1 |
13-32899233-AG-CA |
c.337_338delinsCA |
p.Arg113Gln |
Missense |
4/27 |
- |
1 |
13-32899235-GA-G |
c.339del |
p.Arg113Serfs*8 |
Frameshift |
4/27 |
- |
1 |
13-32899239-A-G |
c.343A>G |
p.Lys115Glu |
Missense |
4/27 |
- |
2 |
13-32899240-A-C |
c.344A>C |
p.Lys115Thr |
Missense |
4/27 |
- |
1 |
13-32899245-C-A |
c.349C>A |
p.Leu117Ile |
Missense |
4/27 |
- |
1 |
13-32899245-TCT-T |
c.349_350del |
p.Leu117Serfs*6 |
Frameshift |
4/27 |
- |
1 |
13-32899247-TTC-T |
c.351_352del |
p.Arg118Hisfs*5 |
Frameshift |
4/27 |
- |
1 |
13-32899248-C-T |
c.352C>T |
p.Arg118Cys |
Missense |
4/27 |
- |
2 |
13-32899248-C-A |
c.352C>A |
p.Arg118Ser |
Missense |
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 |
13-32899257-A-C |
c.361A>C |
p.Lys121Gln |
Missense |
4/27 |
- |
1 |
13-32899260-AA-A |
c.364del |
p.Thr122Leufs*14 |
Frameshift |
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 |
- |
2 |
13-32899269-G-A |
c.373G>A |
p.Asp125Asn |
Missense |
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 |
- |
2 |
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 |
13-32899276-C-T |
c.380C>T |
p.Ala127Val |
Missense |
4/27 |
- |
1 |
13-32899276-C-G |
c.380C>G |
p.Ala127Gly |
Missense |
4/27 |
- |
1 |
13-32899278-G-A |
c.382G>A |
p.Asp128Asn |
Missense |
4/27 |
- |
1 |
13-32899279-A-G |
c.383A>G |
p.Asp128Gly |
Missense |
4/27 |
- |
2 |
13-32899281-G-T |
c.385G>T |
p.Asp129Tyr |
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-T-C |
c.389T>C |
p.Val130Ala |
Missense |
4/27 |
- |
1 |
13-32899285-GTTTCCTGTCCACTTCTAA-G |
c.389_406del |
p.Val130_Asn136delinsAsp |
MultiAAMissense |
4/27 |
- |
1 |
13-32899290-T-A |
c.394T>A |
p.Cys132Ser |
Missense |
4/27 |
- |
1 |
13-32899291-G-C |
c.395G>C |
p.Cys132Ser |
Missense |
4/27 |
- |
1 |
13-32899291-G-A |
c.395G>A |
p.Cys132Tyr |
Missense |
4/27 |
- |
1 |
13-32899292-T-A |
c.396T>A |
p.Cys132* |
Nonsense |
4/27 |
- |
2 |
13-32899293-C-T |
c.397C>T |
p.Pro133Ser |
Missense |
4/27 |
- |
1 |
13-32899294-CA-AT |
c.398_399delinsAT |
p.Pro133His |
Missense |
4/27 |
- |
1 |
13-32899296-C-T |
c.400C>T |
p.Leu134Phe |
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 |
13-32899315-G-T |
c.419G>T |
p.Ser140Ile |
Missense |
4/27 |
- |
1 |
13-32899315-G-A |
c.419G>A |
p.Ser140Asn |
Missense |
4/27 |
- |
1 |
13-32899315-G-C |
c.419G>C |
p.Ser140Thr |
Missense |
4/27 |
- |
1 |
13-32899319-A-AT |
c.423_424insT |
p.Ser142* |
SpliceDonorInsertion |
4/27 |
- |
1 |
13-32899319-A-AC |
c.423_424insC |
p.Ser142Glnfs*16 |
SpliceDonorInsertion |
4/27 |
- |
1 |
13-32899319-A-AG |
c.423_424insG |
p.Ser142Glufs*16 |
SpliceDonorInsertion |
4/27 |
- |
1 |
13-32899320-A-AA |
c.424dup |
p.Ser142Lysfs*16 |
SpliceDonorInsertion |
4/27 |
- |
1 |
13-32899321-G-A |
c.425G>A |
p.Ser142Asn |
Missense |
4/27 |
- |
2 |
13-32899321-G-T |
c.425G>T |
p.Ser142Ile |
Missense |
4/27 |
- |
5 |
13-32899322-GG-G |
c.425+1del |
- |
Frameshift |
- |
4/26 |
1 |
13-32899323-T-A |
c.425+2T>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899323-T-C |
c.425+2T>C |
- |
IntronicSNV |
- |
4/26 |
3 |
13-32899350-T-C |
c.425+29T>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899354-A-G |
c.425+33A>G |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32899388-A-C |
c.425+67A>C |
- |
IntronicSNV |
- |
4/26 |
9 |
13-32899468-G-C |
c.425+147G>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899468-G-T |
c.425+147G>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899567-G-A |
c.425+246G>A |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899567-G-C |
c.425+246G>C |
- |
IntronicSNV |
- |
4/26 |
2 |
13-32899685-G-C |
c.425+364G>C |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32899838-C-T |
c.426-400C>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900149-T-C |
c.426-89T>C |
- |
IntronicSNV |
- |
4/26 |
8 |
13-32900181-A-G |
c.426-57A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900201-T-A |
c.426-37T>A |
- |
IntronicSNV |
- |
4/26 |
3 |
13-32900226-TGTTTT-T |
c.426-12_426-8del |
- |
IntronicDeletion |
- |
4/26 |
1 |
13-32900236-A-G |
c.426-2A>G |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900236-A-T |
c.426-2A>T |
- |
IntronicSNV |
- |
4/26 |
1 |
13-32900238-T-TT |
c.426dup |
p.Pro143Serfs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900238-GT-G |
c.426del |
p.Pro143Leufs*9 |
Frameshift |
5/27 |
- |
1 |
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAG-G |
c.426_475del |
p.Pro143Glyfs*23 |
Unclassified |
5/27 |
- |
1 |
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTA-G |
c.426_475+9del |
- |
Unclassified |
5/27 |
5/26 |
1 |
13-32900238-T-TA |
c.426_427insA |
p.Pro143Thrfs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900238-T-TG |
c.426_427insG |
p.Pro143Alafs*15 |
SpliceAcceptorInsertion |
5/27 |
- |
1 |
13-32900240-C-T |
c.428C>T |
p.Pro143Leu |
Missense |
5/27 |
- |
1 |
13-32900240-C-CC |
c.428dup |
p.Val144Cysfs*14 |
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 |
- |
3 |
13-32900248-C-G |
c.436C>G |
p.Leu146Val |
Missense |
5/27 |
- |
1 |
13-32900250-A-G |
c.438A>G |
p.Leu146Leu |
Synonymous |
5/27 |
- |
1 |
13-32900251-C-T |
c.439C>T |
p.Gln147* |
Nonsense |
5/27 |
- |
3 |
13-32900252-A-T |
c.440A>T |
p.Gln147Leu |
Missense |
5/27 |
- |
1 |
13-32900252-A-G |
c.440A>G |
p.Gln147Arg |
Missense |
5/27 |
- |
14 |
13-32900254-T-C |
c.442T>C |
p.Cys148Arg |
Missense |
5/27 |
- |
1 |
13-32900256-T-A |
c.444T>A |
p.Cys148* |
Nonsense |
5/27 |
- |
1 |
13-32900257-A-C |
c.445A>C |
p.Thr149Pro |
Missense |
5/27 |
- |
1 |
13-32900257-A-G |
c.445A>G |
p.Thr149Ala |
Missense |
5/27 |
- |
1 |
13-32900263-GTA-ATG |
c.451_453delinsATG |
p.Val151Met |
Missense |
5/27 |
- |
1 |
13-32900264-T-C |
c.452T>C |
p.Val151Ala |
Missense |
5/27 |
- |
1 |
13-32900266-ACA-TGT |
c.454_456inv |
p.Thr152Cys |
Missense |
5/27 |
- |
1 |
13-32900266-A-G |
c.454A>G |
p.Thr152Ala |
Missense |
5/27 |
- |
1 |
13-32900267-C-A |
c.455C>A |
p.Thr152Lys |
Missense |
5/27 |
- |
3 |
13-32900273-A-G |
c.461A>G |
p.Gln154Arg |
Missense |
5/27 |
- |
1 |
13-32900274-AAA-A |
c.462_463del |
p.Asp156* |
Frameshift |
5/27 |
- |
5 |
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 |
- |
2 |
13-32900276-AGAGAT-A |
c.464_468del |
p.Arg155Lysfs*26 |
Frameshift |
5/27 |
- |
4 |
13-32900277-A-AT |
c.465_466insT |
p.Asp156* |
Nonsense |
5/27 |
- |
1 |
13-32900278-AGA-A |
c.466_467del |
p.Asp156* |
Frameshift |
5/27 |
- |
2 |
13-32900278-GAT-TAA |
c.466_468delinsTAA |
p.Asp156* |
Nonsense |
5/27 |
- |
1 |
13-32900279-A-G |
c.467A>G |
p.Asp156Gly |
Missense |
5/27 |
- |
5 |
13-32900279-A-T |
c.467A>T |
p.Asp156Val |
Missense |
5/27 |
- |
1 |
13-32900279-A-C |
c.467A>C |
p.Asp156Ala |
Missense |
5/27 |
- |
1 |
13-32900280-T-TT |
c.468dup |
p.Lys157* |
Nonsense |
5/27 |
- |
3 |
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 |
- |
6 |
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 |
- |
8 |
13-32900282-A-AA |
c.470dup |
p.Ser158Valfs*25 |
Frameshift |
5/27 |
- |
1 |
13-32900284-T-G |
c.472T>G |
p.Ser158Ala |
Missense |
5/27 |
- |
1 |
13-32900284-T-A |
c.472T>A |
p.Ser158Thr |
Missense |
5/27 |
- |
1 |
13-32900284-TCA-GAC |
c.472_474delinsGAC |
p.Ser158Asp |
Missense |
5/27 |
- |
1 |
13-32900285-C-T |
c.473C>T |
p.Ser158Leu |
Missense |
5/27 |
- |
1 |
13-32900285-C-A |
c.473C>A |
p.Ser158* |
Nonsense |
5/27 |
- |
2 |
13-32900286-A-AC |
c.474_475insC |
p.Val159Argfs*24 |
SpliceDonorInsertion |
5/27 |
- |
1 |
13-32900286-A-AT |
c.474_475insT |
p.Val159Cysfs*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 |
- |
12 |
13-32900287-G-C |
c.475G>C |
p.Val159Leu |
Missense |
5/27 |
- |
2 |
13-32900288-G-T |
c.475+1G>T |
- |
IntronicSNV |
- |
5/26 |
3 |
13-32900288-G-A |
c.475+1G>A |
- |
IntronicSNV |
- |
5/26 |
7 |
13-32900290-A-G |
c.475+3A>G |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900355-A-G |
c.476-24A>G |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900370-TT-T |
c.476-9del |
- |
IntronicDeletion |
- |
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 |
7 |
13-32900378-G-A |
c.476-1G>A |
- |
IntronicSNV |
- |
5/26 |
1 |
13-32900379-GTGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAG-G |
c.476_516del |
p.Val159Glyfs*10 |
Unclassified |
6/27 |
- |
1 |
13-32900379-T-A |
c.476T>A |
p.Val159Glu |
Missense |
6/27 |
- |
1 |
13-32900379-T-C |
c.476T>C |
p.Val159Ala |
Missense |
6/27 |
- |
1 |
13-32900383-A-T |
c.480A>T |
p.Val160Val |
Synonymous |
6/27 |
- |
1 |
13-32900383-A-C |
c.480A>C |
p.Val160Val |
Synonymous |
6/27 |
- |
1 |
13-32900383-A-G |
c.480A>G |
p.Val160Val |
Synonymous |
6/27 |
- |
1 |
13-32900384-ATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATT-A |
c.482_516+24del |
- |
SpliceDonorDeletion |
6/27 |
6/26 |
1 |
13-32900384-TG-AC |
c.481_482delinsAC |
p.Cys161Thr |
Missense |
6/27 |
- |
1 |
13-32900385-G-A |
c.482G>A |
p.Cys161Tyr |
Missense |
6/27 |
- |
2 |
13-32900386-T-G |
c.483T>G |
p.Cys161Trp |
Missense |
6/27 |
- |
3 |
13-32900386-T-A |
c.483T>A |
p.Cys161* |
Nonsense |
6/27 |
- |
1 |
13-32900388-G-A |
c.485G>A |
p.Gly162Glu |
Missense |
6/27 |
- |
2 |
13-32900388-G-T |
c.485G>T |
p.Gly162Val |
Missense |
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 |
13-32900391-G-A |
c.488G>A |
p.Ser163Asn |
Missense |
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 |
13-32900397-TTTCATA-T |
c.494_499del |
p.Phe165_Thr167delinsSer |
MultiAAMissense |
6/27 |
- |
1 |
13-32900399-C-T |
c.496C>T |
p.His166Tyr |
Missense |
6/27 |
- |
1 |
13-32900399-C-A |
c.496C>A |
p.His166Asn |
Missense |
6/27 |
- |
1 |
13-32900400-A-G |
c.497A>G |
p.His166Arg |
Missense |
6/27 |
- |
1 |
13-32900405-C-G |
c.502C>G |
p.Pro168Ala |
Missense |
6/27 |
- |
2 |
13-32900405-C-A |
c.502C>A |
p.Pro168Thr |
Missense |
6/27 |
- |
9 |
13-32900409-A-G |
c.506A>G |
p.Lys169Arg |
Missense |
6/27 |
- |
2 |
13-32900414-GTG-ATC |
c.511_513delinsATC |
p.Val171Ile |
Missense |
6/27 |
- |
1 |
13-32900417-A-C |
c.514A>C |
p.Lys172Gln |
Missense |
6/27 |
- |
1 |
13-32900419-G-A |
c.516G>A |
p.Lys172Lys |
Synonymous |
6/27 |
- |
3 |
13-32900420-G-T |
c.516+1G>T |
- |
IntronicSNV |
- |
6/26 |
8 |
13-32900420-G-C |
c.516+1G>C |
- |
IntronicSNV |
- |
6/26 |
3 |
13-32900420-G-A |
c.516+1G>A |
- |
IntronicSNV |
- |
6/26 |
4 |
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 |
4 |
13-32900437-T-C |
c.516+18T>C |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900437-T-G |
c.516+18T>G |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900440-A-T |
c.516+21A>T |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900473-T-C |
c.516+54T>C |
- |
IntronicSNV |
- |
6/26 |
2 |
13-32900477-G-A |
c.516+58G>A |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900616-A-G |
c.517-20A>G |
- |
IntronicSNV |
- |
6/26 |
1 |
13-32900617-C-T |
c.517-19C>T |
- |
IntronicSNV |
- |
6/26 |
5 |
13-32900625-T-C |
c.517-11T>C |
- |
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 |
8 |
13-32900635-G-A |
c.517-1G>A |
- |
IntronicSNV |
- |
6/26 |
3 |
13-32900636-G-T |
c.517G>T |
p.Gly173Cys |
Missense |
7/27 |
- |
3 |
13-32900637-GG-G |
c.518del |
p.Gly173Valfs*12 |
Frameshift |
7/27 |
- |
3 |
13-32900637-G-T |
c.518G>T |
p.Gly173Val |
Missense |
7/27 |
- |
5 |
13-32900639-C-T |
c.520C>T |
p.Arg174Cys |
Missense |
7/27 |
- |
5 |
13-32900640-G-A |
c.521G>A |
p.Arg174His |
Missense |
7/27 |
- |
4 |
13-32900641-T-G |
c.522T>G |
p.Arg174Arg |
Synonymous |
7/27 |
- |
2 |
13-32900641-T-A |
c.522T>A |
p.Arg174Arg |
Synonymous |
7/27 |
- |
1 |
13-32900641-T-C |
c.522T>C |
p.Arg174Arg |
Synonymous |
7/27 |
- |
1 |
13-32900646-CA-TG |
c.527_528inv |
p.Thr176Met |
Missense |
7/27 |
- |
1 |
13-32900651-A-C |
c.532A>C |
p.Lys178Gln |
Missense |
7/27 |
- |
2 |
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 |
- |
2 |
13-32900653-A-G |
c.534A>G |
p.Lys178Lys |
Synonymous |
7/27 |
- |
2 |
13-32900655-A-G |
c.536A>G |
p.His179Arg |
Missense |
7/27 |
- |
4 |
13-32900657-TAT-T |
c.538_539del |
p.Ile180Phefs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900658-T-C |
c.539T>C |
p.Ile180Thr |
Missense |
7/27 |
- |
3 |
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 |
13-32900664-A-G |
c.545A>G |
p.Glu182Gly |
Missense |
7/27 |
- |
2 |
13-32900666-AA-A |
c.547del |
p.Ser183Valfs*2 |
Frameshift |
7/27 |
- |
1 |
13-32900668-T-C |
c.549T>C |
p.Ser183Ser |
Synonymous |
7/27 |
- |
2 |
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 |
- |
4 |
13-32900672-G-C |
c.553G>C |
p.Gly185Arg |
Missense |
7/27 |
- |
1 |
13-32900672-G-A |
c.553G>A |
p.Gly185Arg |
Missense |
7/27 |
- |
1 |
13-32900673-G-C |
c.554G>C |
p.Gly185Ala |
Missense |
7/27 |
- |
1 |
13-32900673-GG-G |
c.554del |
p.Gly185Glufs*14 |
Frameshift |
7/27 |
- |
1 |
13-32900675-G-C |
c.556G>C |
p.Ala186Pro |
Missense |
7/27 |
- |
1 |
13-32900676-C-A |
c.557C>A |
p.Ala186Asp |
Missense |
7/27 |
- |
1 |
13-32900678-G-A |
c.559G>A |
p.Glu187Lys |
Missense |
7/27 |
- |
3 |
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 |
13-32900687-C-G |
c.568C>G |
p.Pro190Ala |
Missense |
7/27 |
- |
1 |
13-32900688-C-T |
c.569C>T |
p.Pro190Leu |
Missense |
7/27 |
- |
1 |
13-32900690-G-C |
c.571G>C |
p.Asp191His |
Missense |
7/27 |
- |
1 |
13-32900691-A-G |
c.572A>G |
p.Asp191Gly |
Missense |
7/27 |
- |
1 |
13-32900691-A-T |
c.572A>T |
p.Asp191Val |
Missense |
7/27 |
- |
4 |
13-32900692-T-C |
c.573T>C |
p.Asp191Asp |
Synonymous |
7/27 |
- |
2 |
13-32900693-TAT-T |
c.574_575del |
p.Met192Valfs*13 |
Frameshift |
7/27 |
- |
3 |
13-32900694-T-C |
c.575T>C |
p.Met192Thr |
Missense |
7/27 |
- |
6 |
13-32900696-T-G |
c.577T>G |
p.Ser193Ala |
Missense |
7/27 |
- |
3 |
13-32900700-G-C |
c.581G>C |
p.Trp194Ser |
Missense |
7/27 |
- |
1 |
13-32900701-G-A |
c.582G>A |
p.Trp194* |
Nonsense |
7/27 |
- |
10 |
13-32900700-G-A |
c.581G>A |
p.Trp194* |
Nonsense |
7/27 |
- |
9 |
13-32900703-C-G |
c.584C>G |
p.Ser195* |
Nonsense |
7/27 |
- |
1 |
13-32900705-AG-CT |
c.586_587inv |
p.Ser196Leu |
Missense |
7/27 |
- |
1 |
13-32900706-G-T |
c.587G>T |
p.Ser196Ile |
Missense |
7/27 |
- |
5 |
13-32900706-G-A |
c.587G>A |
p.Ser196Asn |
Missense |
7/27 |
- |
4 |
13-32900706-G-C |
c.587G>C |
p.Ser196Thr |
Missense |
7/27 |
- |
1 |
13-32900711-T-C |
c.592T>C |
p.Leu198Leu |
Synonymous |
7/27 |
- |
1 |
13-32900713-A-G |
c.594A>G |
p.Leu198Leu |
Synonymous |
7/27 |
- |
1 |
13-32900714-G-A |
c.595G>A |
p.Ala199Thr |
Missense |
7/27 |
- |
3 |
13-32900714-G-C |
c.595G>C |
p.Ala199Pro |
Missense |
7/27 |
- |
1 |
13-32900715-C-T |
c.596C>T |
p.Ala199Val |
Missense |
7/27 |
- |
1 |
13-32900718-C-A |
c.599C>A |
p.Thr200Lys |
Missense |
7/27 |
- |
3 |
13-32900718-C-T |
c.599C>T |
p.Thr200Ile |
Missense |
7/27 |
- |
7 |
13-32900719-A-AA |
c.600dup |
p.Pro201Thrfs*5 |
Frameshift |
7/27 |
- |
1 |
13-32900721-C-G |
c.602C>G |
p.Pro201Arg |
Missense |
7/27 |
- |
2 |
13-32900723-C-G |
c.604C>G |
p.Pro202Ala |
Missense |
7/27 |
- |
1 |
13-32900724-C-T |
c.605C>T |
p.Pro202Leu |
Missense |
7/27 |
- |
1 |
13-32900726-AC-TT |
c.607_608delinsTT |
p.Thr203Phe |
Missense |
7/27 |
- |
1 |
13-32900726-AC-TA |
c.607_608delinsTA |
p.Thr203Tyr |
Missense |
7/27 |
- |
1 |
13-32900729-CC-C |
c.610del |
p.Ser205Valfs*6 |
Frameshift |
7/27 |
- |
2 |
13-32900732-TAG-T |
c.613_614del |
p.Ser205Phefs*9 |
Frameshift |
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 |
- |
3 |
13-32900738-AC-GA |
c.619_620delinsGA |
p.Thr207Asp |
Missense |
7/27 |
- |
1 |
13-32900738-A-G |
c.619A>G |
p.Thr207Ala |
Missense |
7/27 |
- |
6 |
13-32900739-C-T |
c.620C>T |
p.Thr207Ile |
Missense |
7/27 |
- |
4 |
13-32900741-GTG-ATC |
c.622_624delinsATC |
p.Val208Ile |
Missense |
7/27 |
- |
1 |
13-32900742-T-G |
c.623T>G |
p.Val208Gly |
Missense |
7/27 |
- |
8 |
13-32900744-C-T |
c.625C>T |
p.Leu209Phe |
Missense |
7/27 |
- |
2 |
13-32900746-C-T |
c.627C>T |
p.Leu209Leu |
Synonymous |
7/27 |
- |
2 |
13-32900746-C-A |
c.627C>A |
p.Leu209Leu |
Synonymous |
7/27 |
- |
2 |
13-32900746-C-G |
c.627C>G |
p.Leu209Leu |
Synonymous |
7/27 |
- |
1 |
13-32900750-G-C |
c.631G>C |
p.Val211Leu |
Missense |
7/27 |
- |
4 |
13-32900750-G-A |
c.631G>A |
p.Val211Ile |
Missense |
7/27 |
- |
13 |
13-32900751-G-A |
c.631+1G>A |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32900752-T-G |
c.631+2T>G |
- |
IntronicSNV |
- |
7/26 |
10 |
13-32900753-A-G |
c.631+3A>G |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32900754-A-G |
c.631+4A>G |
- |
IntronicSNV |
- |
7/26 |
3 |
13-32900775-C-T |
c.631+25C>T |
- |
IntronicSNV |
- |
7/26 |
2 |
13-32900933-T-A |
c.631+183T>A |
- |
IntronicSNV |
- |
7/26 |
8 |
13-32901430-A-C |
c.631+680A>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32902067-A-G |
c.631+1317A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903511-T-C |
c.632-69T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903516-G-A |
c.632-64G>A |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903553-C-G |
c.632-27C>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903564-A-C |
c.632-16A>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903570-T-TT |
c.632-10dup |
- |
IntronicInsertion |
- |
7/26 |
1 |
13-32903571-A-G |
c.632-9A>G |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903575-T-C |
c.632-5T>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903577-C-G |
c.632-3C>G |
- |
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 |
4 |
13-32903579-G-C |
c.632-1G>C |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903579-G-T |
c.632-1G>T |
- |
IntronicSNV |
- |
7/26 |
1 |
13-32903581-C-T |
c.633C>T |
p.Val211Val |
Synonymous |
8/27 |
- |
2 |
13-32903581-TC-T |
c.633del |
p.Arg212Glufs*18 |
Frameshift |
8/27 |
- |
1 |
13-32903581-C-CC |
c.633dup |
p.Arg212Glnfs*3 |
SpliceAcceptorInsertion |
8/27 |
- |
1 |
13-32903582-AGA-TGT |
c.634_636delinsTGT |
p.Arg212Cys |
Missense |
8/27 |
- |
1 |
13-32903582-AGA-TGG |
c.634_636delinsTGG |
p.Arg212Trp |
Missense |
8/27 |
- |
1 |
13-32903583-AGA-A |
c.635_636del |
p.Arg212Lysfs*2 |
Frameshift |
8/27 |
- |
3 |
13-32903592-GAAG-G |
c.644_646del |
p.Glu215del |
InFrameDeletion |
8/27 |
- |
2 |
13-32903594-AG-A |
c.646del |
p.Ala216Hisfs*14 |
Frameshift |
8/27 |
- |
1 |
13-32903595-C-T |
c.647C>T |
p.Ala216Val |
Missense |
8/27 |
- |
1 |
13-32903596-A-G |
c.648A>G |
p.Ala216Ala |
Synonymous |
8/27 |
- |
1 |
13-32903597-TC-CT |
c.649_650delinsCT |
p.Ser217Leu |
Missense |
8/27 |
- |
1 |
13-32903598-C-A |
c.650C>A |
p.Ser217Tyr |
Missense |
8/27 |
- |
1 |
13-32903605-CT-C |
c.657del |
p.Val220Tyrfs*10 |
Frameshift |
8/27 |
- |
2 |
13-32903606-TGT-T |
c.658_659del |
p.Val220Ilefs*4 |
Frameshift |
8/27 |
- |
51 |
13-32903606-G-A |
c.658G>A |
p.Val220Ile |
Missense |
8/27 |
- |
2 |
13-32903606-GTA-ATG |
c.658_660delinsATG |
p.Val220Met |
Missense |
8/27 |
- |
1 |
13-32903612-C-A |
c.664C>A |
p.Pro222Thr |
Missense |
8/27 |
- |
1 |
13-32903614-T-TA |
c.666_667insA |
p.His223Thrfs*2 |
Frameshift |
8/27 |
- |
1 |
13-32903621-A-G |
c.673A>G |
p.Thr225Ala |
Missense |
8/27 |
- |
5 |
13-32903622-CT-AG |
c.674_675inv |
p.Thr225Lys |
Missense |
8/27 |
- |
1 |
13-32903622-C-T |
c.674C>T |
p.Thr225Ile |
Missense |
8/27 |
- |
1 |
13-32903627-G-A |
c.679G>A |
p.Ala227Thr |
Missense |
8/27 |
- |
2 |
13-32903628-C-T |
c.680C>T |
p.Ala227Val |
Missense |
8/27 |
- |
2 |
13-32903630-G-A |
c.681+1G>A |
- |
IntronicSNV |
- |
8/26 |
2 |
13-32903631-T-TT |
c.681+2dup |
- |
IntronicInsertion |
- |
8/26 |
1 |
13-32903633-A-G |
c.681+4A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903634-G-C |
c.681+5G>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32903685-C-G |
c.681+56C>G |
- |
IntronicSNV |
- |
8/26 |
18 |
13-32903685-C-T |
c.681+56C>T |
- |
IntronicSNV |
- |
8/26 |
22 |
13-32903726-TGT-T |
c.681+97_681+98del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32905024-A-G |
c.682-32A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905026-A-C |
c.682-30A>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905044-ATA-A |
c.682-12_682-11del |
- |
IntronicDeletion |
- |
8/26 |
1 |
13-32905044-AT-A |
c.682-12del |
- |
IntronicDeletion |
- |
8/26 |
2 |
13-32905047-T-C |
c.682-9T>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905054-A-C |
c.682-2A>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905054-A-G |
c.682-2A>G |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905055-G-C |
c.682-1G>C |
- |
IntronicSNV |
- |
8/26 |
1 |
13-32905056-GAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTAT-G |
c.682_740del |
p.Asn228Argfs*7 |
Unclassified |
9/27 |
- |
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 |
13-32905065-A-C |
c.691A>C |
p.Ser231Arg |
Missense |
9/27 |
- |
1 |
13-32905067-C-A |
c.693C>A |
p.Ser231Arg |
Missense |
9/27 |
- |
1 |
13-32905067-C-G |
c.693C>G |
p.Ser231Arg |
Missense |
9/27 |
- |
1 |
13-32905068-TA-GC |
c.694_695delinsGC |
p.Tyr232Ala |
Missense |
9/27 |
- |
1 |
13-32905069-A-G |
c.695A>G |
p.Tyr232Cys |
Missense |
9/27 |
- |
2 |
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 |
- |
6 |
13-32905081-A-G |
c.707A>G |
p.His236Arg |
Missense |
9/27 |
- |
1 |
13-32905082-T-C |
c.708T>C |
p.His236His |
Synonymous |
9/27 |
- |
1 |
13-32905084-A-G |
c.710A>G |
p.Asp237Gly |
Missense |
9/27 |
- |
2 |
13-32905086-G-T |
c.712G>T |
p.Glu238* |
Nonsense |
9/27 |
- |
2 |
13-32905103-ATGAT-A |
c.729_732del |
p.Asn243Lysfs*7 |
Frameshift |
9/27 |
- |
1 |
13-32905104-G-A |
c.730G>A |
p.Asp244Asn |
Missense |
9/27 |
- |
1 |
13-32905104-TGATAGATTTAT-T |
c.730_740del |
p.Asp244Argfs*7 |
Frameshift |
9/27 |
- |
1 |
13-32905106-ATA-A |
c.732_733del |
p.Asp244Glufs*10 |
Frameshift |
9/27 |
- |
1 |
13-32905106-ATAGATTTATCGCTTCTGTGACAGA-A |
c.732_755del |
p.Arg245_Asp252del |
InFrameDeletion |
9/27 |
- |
1 |
13-32905108-G-A |
c.734G>A |
p.Arg245Lys |
Missense |
9/27 |
- |
1 |
13-32905109-A-T |
c.735A>T |
p.Arg245Ser |
Missense |
9/27 |
- |
1 |
13-32905109-A-C |
c.735A>C |
p.Arg245Ser |
Missense |
9/27 |
- |
1 |
13-32905110-T-G |
c.736T>G |
p.Phe246Val |
Missense |
9/27 |
- |
1 |
13-32905110-ATTT-A |
c.736_738del |
p.Phe246del |
InFrameDeletion |
9/27 |
- |
1 |
13-32905110-ATTTATCGCTTCTGTGACAGA-A |
c.736_755del |
p.Phe246Glnfs*2 |
Frameshift |
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-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 |
13-32905113-A-AA |
c.739dup |
p.Ile247Asnfs*8 |
Frameshift |
9/27 |
- |
1 |
13-32905114-ATCGCTTCTGTGACAGACAGTGAAA-A |
c.740_763del |
p.Ile247_Glu254del |
InFrameDeletion |
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 |
- |
5 |
13-32905117-C-G |
c.743C>G |
p.Ala248Gly |
Missense |
9/27 |
- |
1 |
13-32905119-T-C |
c.745T>C |
p.Ser249Pro |
Missense |
9/27 |
- |
1 |
13-32905120-C-G |
c.746C>G |
p.Ser249Cys |
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 |
13-32905127-A-AT |
c.753_754insT |
p.Asp252* |
Nonsense |
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 |
- |
4 |
13-32905129-GACAG-G |
c.755_758del |
p.Asp252Valfs*24 |
Frameshift |
9/27 |
- |
19 |
13-32905130-ACAGT-A |
c.756_759del |
p.Asp252Glufs*24 |
Frameshift |
9/27 |
- |
2 |
13-32905139-ACACAA-A |
c.765_769del |
p.Asn255Lysfs*19 |
Frameshift |
9/27 |
- |
1 |
13-32905141-ACA-A |
c.767_768del |
p.Thr256Lysfs*19 |
Frameshift |
9/27 |
- |
2 |
13-32905142-A-AT |
c.768_769insT |
p.Asn257* |
Nonsense |
9/27 |
- |
2 |
13-32905143-A-C |
c.769A>C |
p.Asn257His |
Missense |
9/27 |
- |
2 |
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 |
- |
31 |
13-32905146-C-T |
c.772C>T |
p.Gln258* |
Nonsense |
9/27 |
- |
3 |
13-32905148-AAA-A |
c.774_775del |
p.Glu260Serfs*15 |
Frameshift |
9/27 |
- |
6 |
13-32905149-A-T |
c.775A>T |
p.Arg259* |
Nonsense |
9/27 |
- |
3 |
13-32905149-AGA-TGG |
c.775_777delinsTGG |
p.Arg259Trp |
Missense |
9/27 |
- |
1 |
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 |
- |
3 |
13-32905157-CT-C |
c.783del |
p.Ala262Glnfs*15 |
Frameshift |
9/27 |
- |
1 |
13-32905158-TG-T |
c.784del |
p.Ala262Glnfs*15 |
Frameshift |
9/27 |
- |
1 |
13-32905158-G-A |
c.784G>A |
p.Ala262Thr |
Missense |
9/27 |
- |
1 |
13-32905159-C-T |
c.785C>T |
p.Ala262Val |
Missense |
9/27 |
- |
4 |
13-32905164-CA-TT |
c.790_791delinsTT |
p.His264Phe |
Missense |
9/27 |
- |
1 |
13-32905166-T-G |
c.792T>G |
p.His264Gln |
Missense |
9/27 |
- |
1 |
13-32905168-GG-G |
c.793+1del |
- |
IntronicDeletion |
- |
9/26 |
2 |
13-32905168-G-T |
c.793+1G>T |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905201-T-G |
c.793+34T>G |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905265-G-A |
c.793+98G>A |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905265-G-T |
c.793+98G>T |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905265-G-C |
c.793+98G>C |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905628-C-A |
c.793+461C>A |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905628-C-T |
c.793+461C>T |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32905998-A-G |
c.794-411A>G |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32906387-C-T |
c.794-22C>T |
- |
IntronicSNV |
- |
9/26 |
1 |
13-32906398-T-C |
c.794-11T>C |
- |
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-T-A |
c.797T>A |
p.Phe266Tyr |
Missense |
10/27 |
- |
1 |
13-32906412-T-G |
c.797T>G |
p.Phe266Cys |
Missense |
10/27 |
- |
1 |
13-32906412-TTT-T |
c.797_798del |
p.Phe266Trpfs*9 |
Frameshift |
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 |
- |
4 |
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 |
13-32906422-A-G |
c.807A>G |
p.Thr269Thr |
Synonymous |
10/27 |
- |
1 |
13-32906422-A-T |
c.807A>T |
p.Thr269Thr |
Synonymous |
10/27 |
- |
1 |
13-32906424-C-G |
c.809C>G |
p.Ser270* |
Nonsense |
10/27 |
- |
3 |
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 |
13-32906433-C-G |
c.818C>G |
p.Ser273* |
Nonsense |
10/27 |
- |
3 |
13-32906433-C-T |
c.818C>T |
p.Ser273Leu |
Missense |
10/27 |
- |
1 |
13-32906433-C-A |
c.818C>A |
p.Ser273* |
Nonsense |
10/27 |
- |
2 |
13-32906441-GTA-ATG |
c.826_828delinsATG |
p.Val276Met |
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 |
- |
2 |
13-32906446-T-G |
c.831T>G |
p.Asn277Lys |
Missense |
10/27 |
- |
7 |
13-32906447-A-G |
c.832A>G |
p.Ser278Gly |
Missense |
10/27 |
- |
1 |
13-32906448-G-A |
c.833G>A |
p.Ser278Asn |
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 |
13-32906453-A-T |
c.838A>T |
p.Lys280* |
Nonsense |
10/27 |
- |
1 |
13-32906456-G-C |
c.841G>C |
p.Asp281His |
Missense |
10/27 |
- |
1 |
13-32906456-G-A |
c.841G>A |
p.Asp281Asn |
Missense |
10/27 |
- |
2 |
13-32906456-G-T |
c.841G>T |
p.Asp281Tyr |
Missense |
10/27 |
- |
3 |
13-32906457-A-T |
c.842A>T |
p.Asp281Val |
Missense |
10/27 |
- |
1 |
13-32906457-A-C |
c.842A>C |
p.Asp281Ala |
Missense |
10/27 |
- |
1 |
13-32906457-A-G |
c.842A>G |
p.Asp281Gly |
Missense |
10/27 |
- |
1 |
13-32906458-C-A |
c.843C>A |
p.Asp281Glu |
Missense |
10/27 |
- |
2 |
13-32906458-ACCAC-A |
c.843_846del |
p.Asp281Glufs*10 |
Frameshift |
10/27 |
- |
1 |
13-32906459-C-G |
c.844C>G |
p.His282Asp |
Missense |
10/27 |
- |
1 |
13-32906459-C-T |
c.844C>T |
p.His282Tyr |
Missense |
10/27 |
- |
2 |
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 |
13-32906465-GGA-TGG |
c.850_852delinsTGG |
p.Gly284Trp |
Missense |
10/27 |
- |
1 |
13-32906465-G-A |
c.850G>A |
p.Gly284Arg |
Missense |
10/27 |
- |
1 |
13-32906466-G-A |
c.851G>A |
p.Gly284Glu |
Missense |
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 |
- |
3 |
13-32906472-CA-TT |
c.857_858delinsTT |
p.Ser286Phe |
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 |
13-32906477-C-T |
c.862C>T |
p.Pro288Ser |
Missense |
10/27 |
- |
1 |
13-32906478-CC-C |
c.863del |
p.Pro288Glnfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906480-A-C |
c.865A>C |
p.Asn289His |
Missense |
10/27 |
- |
89 |
13-32906480-A-G |
c.865A>G |
p.Asn289Asp |
Missense |
10/27 |
- |
33 |
13-32906482-T-A |
c.867T>A |
p.Asn289Lys |
Missense |
10/27 |
- |
1 |
13-32906482-T-G |
c.867T>G |
p.Asn289Lys |
Missense |
10/27 |
- |
1 |
13-32906483-GTC-ATG |
c.868_870delinsATG |
p.Val290Met |
Missense |
10/27 |
- |
1 |
13-32906483-G-A |
c.868G>A |
p.Val290Ile |
Missense |
10/27 |
- |
1 |
13-32906484-T-C |
c.869T>C |
p.Val290Ala |
Missense |
10/27 |
- |
1 |
13-32906489-G-A |
c.874G>A |
p.Glu292Lys |
Missense |
10/27 |
- |
1 |
13-32906495-G-T |
c.880G>T |
p.Glu294* |
Nonsense |
10/27 |
- |
3 |
13-32906496-A-T |
c.881A>T |
p.Glu294Val |
Missense |
10/27 |
- |
1 |
13-32906496-A-G |
c.881A>G |
p.Glu294Gly |
Missense |
10/27 |
- |
1 |
13-32906496-A-C |
c.881A>C |
p.Glu294Ala |
Missense |
10/27 |
- |
1 |
13-32906497-A-T |
c.882A>T |
p.Glu294Asp |
Missense |
10/27 |
- |
1 |
13-32906497-A-C |
c.882A>C |
p.Glu294Asp |
Missense |
10/27 |
- |
1 |
13-32906502-A-G |
c.887A>G |
p.Tyr296Cys |
Missense |
10/27 |
- |
4 |
13-32906503-T-A |
c.888T>A |
p.Tyr296* |
Nonsense |
10/27 |
- |
1 |
13-32906504-G-A |
c.889G>A |
p.Glu297Lys |
Missense |
10/27 |
- |
1 |
13-32906505-A-G |
c.890A>G |
p.Glu297Gly |
Missense |
10/27 |
- |
1 |
13-32906507-AACAGTTGTA-A |
c.892_900del |
p.Thr298_Val300del |
InFrameDeletion |
10/27 |
- |
1 |
13-32906507-A-AT |
c.892_893insT |
p.Thr298Ilefs*7 |
Frameshift |
10/27 |
- |
1 |
13-32906510-GTT-ATG |
c.895_897delinsATG |
p.Val299Met |
Missense |
10/27 |
- |
1 |
13-32906512-T-TT |
c.897dup |
p.Val300Cysfs*5 |
Frameshift |
10/27 |
- |
1 |
13-32906514-T-A |
c.899T>A |
p.Val300Glu |
Missense |
10/27 |
- |
1 |
13-32906517-A-G |
c.902A>G |
p.Asp301Gly |
Missense |
10/27 |
- |
1 |
13-32906519-A-AA |
c.904dup |
p.Thr302Asnfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32906520-C-A |
c.905C>A |
p.Thr302Asn |
Missense |
10/27 |
- |
1 |
13-32906520-C-T |
c.905C>T |
p.Thr302Ile |
Missense |
10/27 |
- |
1 |
13-32906520-C-G |
c.905C>G |
p.Thr302Ser |
Missense |
10/27 |
- |
1 |
13-32906520-C-CA |
c.905_906insA |
p.Ser303Leufs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906525-G-T |
c.910G>T |
p.Glu304* |
Nonsense |
10/27 |
- |
1 |
13-32906525-G-A |
c.910G>A |
p.Glu304Lys |
Missense |
10/27 |
- |
1 |
13-32906528-G-A |
c.913G>A |
p.Glu305Lys |
Missense |
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-GATAG-G |
c.917_920del |
p.Asp306Valfs*17 |
Frameshift |
10/27 |
- |
1 |
13-32906532-A-T |
c.917A>T |
p.Asp306Val |
Missense |
10/27 |
- |
1 |
13-32906533-T-C |
c.918T>C |
p.Asp306Asp |
Synonymous |
10/27 |
- |
1 |
13-32906534-AG-TT |
c.919_920delinsTT |
p.Ser307Phe |
Missense |
10/27 |
- |
1 |
13-32906535-G-A |
c.920G>A |
p.Ser307Asn |
Missense |
10/27 |
- |
1 |
13-32906539-T-G |
c.924T>G |
p.Phe308Leu |
Missense |
10/27 |
- |
1 |
13-32906539-T-A |
c.924T>A |
p.Phe308Leu |
Missense |
10/27 |
- |
1 |
13-32906537-T-C |
c.922T>C |
p.Phe308Leu |
Missense |
10/27 |
- |
1 |
13-32906539-TTT-T |
c.924_925del |
p.Ser309Ilefs*5 |
Frameshift |
10/27 |
- |
3 |
13-32906541-C-T |
c.926C>T |
p.Ser309Leu |
Missense |
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 |
- |
2 |
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 |
13-32906546-TG-GC |
c.931_932delinsGC |
p.Cys311Ala |
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 |
13-32906553-C-T |
c.938C>T |
p.Ser313Phe |
Missense |
10/27 |
- |
1 |
13-32906555-A-T |
c.940A>T |
p.Lys314* |
Nonsense |
10/27 |
- |
1 |
13-32906558-T-C |
c.943T>C |
p.Cys315Arg |
Missense |
10/27 |
- |
1 |
13-32906558-T-A |
c.943T>A |
p.Cys315Ser |
Missense |
10/27 |
- |
23 |
13-32906558-TG-GC |
c.943_944delinsGC |
p.Cys315Ala |
Missense |
10/27 |
- |
1 |
13-32906561-A-G |
c.946A>G |
p.Arg316Gly |
Missense |
10/27 |
- |
1 |
13-32906562-G-A |
c.947G>A |
p.Arg316Lys |
Missense |
10/27 |
- |
1 |
13-32906566-A-G |
c.951A>G |
p.Thr317Thr |
Synonymous |
10/27 |
- |
1 |
13-32906570-A-G |
c.955A>G |
p.Asn319Asp |
Missense |
10/27 |
- |
1 |
13-32906571-A-AA |
c.956dup |
p.Asn319Lysfs*8 |
Frameshift |
10/27 |
- |
8 |
13-32906571-A-G |
c.956A>G |
p.Asn319Ser |
Missense |
10/27 |
- |
6 |
13-32906571-A-C |
c.956A>C |
p.Asn319Thr |
Missense |
10/27 |
- |
9 |
13-32906572-T-A |
c.957T>A |
p.Asn319Lys |
Missense |
10/27 |
- |
1 |
13-32906572-T-G |
c.957T>G |
p.Asn319Lys |
Missense |
10/27 |
- |
1 |
13-32906573-TC-T |
c.958del |
p.Leu320Tyrfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906576-C-T |
c.961C>T |
p.Gln321* |
Nonsense |
10/27 |
- |
5 |
13-32906576-CA-TC |
c.961_962delinsTC |
p.Gln321Ser |
Missense |
10/27 |
- |
1 |
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 |
- |
21 |
13-32906583-GTAAG-G |
c.968_971del |
p.Val323Glufs*25 |
Frameshift |
10/27 |
- |
1 |
13-32906584-A-AC |
c.969_970insC |
p.Arg324Glnfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32906585-AGA-CAT |
c.970_972delinsCAT |
p.Arg324His |
Missense |
10/27 |
- |
1 |
13-32906586-G-A |
c.971G>A |
p.Arg324Lys |
Missense |
10/27 |
- |
1 |
13-32906586-G-C |
c.971G>C |
p.Arg324Thr |
Missense |
10/27 |
- |
4 |
13-32906591-A-AA |
c.976dup |
p.Ser326Lysfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906593-C-T |
c.978C>T |
p.Ser326Ser |
Synonymous |
10/27 |
- |
5 |
13-32906593-C-G |
c.978C>G |
p.Ser326Arg |
Missense |
10/27 |
- |
14 |
13-32906593-C-A |
c.978C>A |
p.Ser326Arg |
Missense |
10/27 |
- |
22 |
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 |
13-32906598-C-T |
c.983C>T |
p.Thr328Ile |
Missense |
10/27 |
- |
1 |
13-32906600-AG-CC |
c.985_986delinsCC |
p.Arg329Pro |
Missense |
10/27 |
- |
1 |
13-32906600-AG-CA |
c.985_986delinsCA |
p.Arg329Gln |
Missense |
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 |
13-32906607-A-T |
c.992A>T |
p.Lys331Ile |
Missense |
10/27 |
- |
1 |
13-32906609-A-T |
c.994A>T |
p.Ile332Phe |
Missense |
10/27 |
- |
1 |
13-32906609-AA-A |
c.994del |
p.Ile332Phefs*17 |
Frameshift |
10/27 |
- |
5 |
13-32906609-A-AA |
c.994dup |
p.Ile332Asnfs*4 |
Frameshift |
10/27 |
- |
5 |
13-32906610-T-A |
c.995T>A |
p.Ile332Asn |
Missense |
10/27 |
- |
3 |
13-32906611-T-G |
c.996T>G |
p.Ile332Met |
Missense |
10/27 |
- |
1 |
13-32906613-TT-T |
c.998del |
p.Phe333Serfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32906615-C-CC |
c.1000dup |
p.His334Profs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906615-CC-C |
c.1000del |
p.His334Metfs*15 |
Frameshift |
10/27 |
- |
2 |
13-32906620-A-AATAA |
c.1005_1006insATAA |
p.Ala336Ilefs*5 |
Frameshift |
10/27 |
- |
1 |
13-32906621-G-A |
c.1006G>A |
p.Ala336Thr |
Missense |
10/27 |
- |
1 |
13-32906625-AA-A |
c.1010del |
p.Asn337Thrfs*12 |
Frameshift |
10/27 |
- |
1 |
13-32906625-A-ATG |
c.1010_1011insTG |
p.Asp339Leufs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906626-C-T |
c.1011C>T |
p.Asn337Asn |
Synonymous |
10/27 |
- |
2 |
13-32906631-GA-G |
c.1016del |
p.Asp339Valfs*10 |
Frameshift |
10/27 |
- |
3 |
13-32906631-A-AA |
c.1016dup |
p.Asp339Glufs*2 |
Frameshift |
10/27 |
- |
5 |
13-32906633-G-T |
c.1018G>T |
p.Glu340* |
Nonsense |
10/27 |
- |
1 |
13-32906633-G-C |
c.1018G>C |
p.Glu340Gln |
Missense |
10/27 |
- |
1 |
13-32906636-T-C |
c.1021T>C |
p.Cys341Arg |
Missense |
10/27 |
- |
1 |
13-32906636-T-A |
c.1021T>A |
p.Cys341Ser |
Missense |
10/27 |
- |
2 |
13-32906637-G-C |
c.1022G>C |
p.Cys341Ser |
Missense |
10/27 |
- |
2 |
13-32906637-G-T |
c.1022G>T |
p.Cys341Phe |
Missense |
10/27 |
- |
1 |
13-32906639-G-A |
c.1024G>A |
p.Glu342Lys |
Missense |
10/27 |
- |
1 |
13-32906641-A-AT |
c.1026_1027insT |
p.Lys343* |
Nonsense |
10/27 |
- |
1 |
13-32906642-A-G |
c.1027A>G |
p.Lys343Glu |
Missense |
10/27 |
- |
1 |
13-32906644-AA-A |
c.1029del |
p.Lys343Asnfs*6 |
Frameshift |
10/27 |
- |
3 |
13-32906645-T-A |
c.1030T>A |
p.Ser344Thr |
Missense |
10/27 |
- |
1 |
13-32906648-A-G |
c.1033A>G |
p.Lys345Glu |
Missense |
10/27 |
- |
3 |
13-32906649-A-C |
c.1034A>C |
p.Lys345Thr |
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 |
- |
5 |
13-32906655-A-C |
c.1040A>C |
p.Gln347Pro |
Missense |
10/27 |
- |
2 |
13-32906657-G-A |
c.1042G>A |
p.Val348Met |
Missense |
10/27 |
- |
1 |
13-32906667-AAA-A |
c.1052_1053del |
p.Lys351Ilefs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906668-AA-A |
c.1053del |
p.Lys351Asnfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32906669-T-C |
c.1054T>C |
p.Tyr352His |
Missense |
10/27 |
- |
1 |
13-32906669-T-TT |
c.1054dup |
p.Tyr352Leufs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906670-A-G |
c.1055A>G |
p.Tyr352Cys |
Missense |
10/27 |
- |
1 |
13-32906672-TCA-AAC |
c.1057_1059delinsAAC |
p.Ser353Asn |
Missense |
10/27 |
- |
1 |
13-32906673-C-T |
c.1058C>T |
p.Ser353Leu |
Missense |
10/27 |
- |
2 |
13-32906673-C-A |
c.1058C>A |
p.Ser353* |
Nonsense |
10/27 |
- |
1 |
13-32906673-C-G |
c.1058C>G |
p.Ser353* |
Nonsense |
10/27 |
- |
1 |
13-32906674-CA-C |
c.1059del |
p.Phe354Leufs*13 |
Frameshift |
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 |
13-32906677-T-G |
c.1062T>G |
p.Phe354Leu |
Missense |
10/27 |
- |
1 |
13-32906676-T-C |
c.1061T>C |
p.Phe354Ser |
Missense |
10/27 |
- |
1 |
13-32906682-C-G |
c.1067C>G |
p.Ser356Cys |
Missense |
10/27 |
- |
1 |
13-32906690-G-A |
c.1075G>A |
p.Glu359Lys |
Missense |
10/27 |
- |
1 |
13-32906692-A-ATGGA |
c.1077_1078insTGGA |
p.Pro360Trpfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906697-AA-A |
c.1082del |
p.Asn361Metfs*6 |
Frameshift |
10/27 |
- |
2 |
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 |
- |
2 |
13-32906710-A-AATTA |
c.1095_1096insATTA |
p.Leu366Ilefs*13 |
Frameshift |
10/27 |
- |
1 |
13-32906711-T-G |
c.1096T>G |
p.Leu366Val |
Missense |
10/27 |
- |
2 |
13-32906715-A-G |
c.1100A>G |
p.Asp367Gly |
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 |
- |
2 |
13-32906729-A-C |
c.1114A>C |
p.Asn372His |
Missense |
10/27 |
- |
198 |
13-32906731-T-C |
c.1116T>C |
p.Asn372Asn |
Synonymous |
10/27 |
- |
1 |
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 |
- |
7 |
13-32906739-C-T |
c.1124C>T |
p.Pro375Leu |
Missense |
10/27 |
- |
1 |
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 |
- |
2 |
13-32906745-A-AA |
c.1130dup |
p.Ser378Glufs*4 |
Frameshift |
10/27 |
- |
1 |
13-32906750-G-A |
c.1135G>A |
p.Gly379Arg |
Missense |
10/27 |
- |
1 |
13-32906750-G-C |
c.1135G>C |
p.Gly379Arg |
Missense |
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 |
- |
4 |
13-32906757-A-G |
c.1142A>G |
p.Asp381Gly |
Missense |
10/27 |
- |
1 |
13-32906759-A-C |
c.1144A>C |
p.Lys382Gln |
Missense |
10/27 |
- |
1 |
13-32906761-A-G |
c.1146A>G |
p.Lys382Lys |
Synonymous |
10/27 |
- |
1 |
13-32906762-AA-A |
c.1147del |
p.Ile383Serfs*16 |
Frameshift |
10/27 |
- |
1 |
13-32906766-CC-AA |
c.1151_1152delinsAA |
p.Ser384* |
Nonsense |
10/27 |
- |
1 |
13-32906766-C-G |
c.1151C>G |
p.Ser384Cys |
Missense |
10/27 |
- |
4 |
13-32906766-C-T |
c.1151C>T |
p.Ser384Phe |
Missense |
10/27 |
- |
29 |
13-32906770-G-A |
c.1155G>A |
p.Lys385Lys |
Synonymous |
10/27 |
- |
1 |
13-32906775-T-C |
c.1160T>C |
p.Val387Ala |
Missense |
10/27 |
- |
1 |
13-32906781-C-T |
c.1166C>T |
p.Pro389Leu |
Missense |
10/27 |
- |
1 |
13-32906782-G-C |
c.1167G>C |
p.Pro389Pro |
Synonymous |
10/27 |
- |
2 |
13-32906782-G-A |
c.1167G>A |
p.Pro389Pro |
Synonymous |
10/27 |
- |
3 |
13-32906782-G-T |
c.1167G>T |
p.Pro389Pro |
Synonymous |
10/27 |
- |
2 |
13-32906791-C-G |
c.1176C>G |
p.Ala392Ala |
Synonymous |
10/27 |
- |
1 |
13-32906791-C-T |
c.1176C>T |
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 |
13-32906798-T-G |
c.1183T>G |
p.Trp395Gly |
Missense |
10/27 |
- |
2 |
13-32906799-G-A |
c.1184G>A |
p.Trp395* |
Nonsense |
10/27 |
- |
2 |
13-32906804-C-CTTAG |
c.1189_1190insTTAG |
p.Gln397Leufs*25 |
Frameshift |
10/27 |
- |
3 |
13-32906805-CAACTAACC-C |
c.1190_1197del |
p.Gln397Profs*21 |
Frameshift |
10/27 |
- |
1 |
13-32906806-A-C |
c.1191A>C |
p.Gln397His |
Missense |
10/27 |
- |
1 |
13-32906811-C-T |
c.1196C>T |
p.Thr399Ile |
Missense |
10/27 |
- |
1 |
13-32906817-C-A |
c.1202C>A |
p.Ser401* |
Nonsense |
10/27 |
- |
1 |
13-32906817-C-G |
c.1202C>G |
p.Ser401* |
Nonsense |
10/27 |
- |
1 |
13-32906819-G-C |
c.1204G>C |
p.Gly402Arg |
Missense |
10/27 |
- |
1 |
13-32906820-G-A |
c.1205G>A |
p.Gly402Asp |
Missense |
10/27 |
- |
1 |
13-32906820-GG-G |
c.1205del |
p.Gly402Valfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32906822-TCTA-T |
c.1207_1209del |
p.Leu403del |
InFrameDeletion |
10/27 |
- |
1 |
13-32906826-A-T |
c.1211A>T |
p.Asn404Ile |
Missense |
10/27 |
- |
1 |
13-32906826-A-G |
c.1211A>G |
p.Asn404Ser |
Missense |
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 |
13-32906833-C-T |
c.1218C>T |
p.Ala406Ala |
Synonymous |
10/27 |
- |
2 |
13-32906833-C-G |
c.1218C>G |
p.Ala406Ala |
Synonymous |
10/27 |
- |
2 |
13-32906837-A-G |
c.1222A>G |
p.Met408Val |
Missense |
10/27 |
- |
1 |
13-32906837-GA-G |
c.1222del |
p.Met408Trpfs*22 |
Frameshift |
10/27 |
- |
1 |
13-32906840-G-GCG |
c.1225_1226insCG |
p.Glu409Alafs*22 |
Frameshift |
10/27 |
- |
1 |
13-32906846-AA-A |
c.1231del |
p.Ile411Tyrfs*19 |
Frameshift |
10/27 |
- |
4 |
13-32906847-T-C |
c.1232T>C |
p.Ile411Thr |
Missense |
10/27 |
- |
3 |
13-32906848-A-AA |
c.1233dup |
p.Pro412Thrfs*9 |
Frameshift |
10/27 |
- |
2 |
13-32906849-C-A |
c.1234C>A |
p.Pro412Thr |
Missense |
10/27 |
- |
1 |
13-32906849-C-T |
c.1234C>T |
p.Pro412Ser |
Missense |
10/27 |
- |
1 |
13-32906851-C-T |
c.1236C>T |
p.Pro412Pro |
Synonymous |
10/27 |
- |
1 |
13-32906852-C-G |
c.1237C>G |
p.Leu413Val |
Missense |
10/27 |
- |
1 |
13-32906853-CT-C |
c.1238del |
p.Leu413Hisfs*17 |
Frameshift |
10/27 |
- |
7 |
13-32906853-TA-AT |
c.1238_1239delinsAT |
p.Leu413His |
Missense |
10/27 |
- |
1 |
13-32906859-CA-C |
c.1244del |
p.His415Leufs*15 |
Frameshift |
10/27 |
- |
1 |
13-32906859-A-G |
c.1244A>G |
p.His415Arg |
Missense |
10/27 |
- |
4 |
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 |
13-32906868-C-G |
c.1253C>G |
p.Ser418* |
Nonsense |
10/27 |
- |
1 |
13-32906868-C-A |
c.1253C>A |
p.Ser418* |
Nonsense |
10/27 |
- |
1 |
13-32906872-GT-G |
c.1257del |
p.Cys419Trpfs*11 |
Frameshift |
10/27 |
- |
1 |
13-32906873-TG-T |
c.1258del |
p.Asp420Thrfs*10 |
Frameshift |
10/27 |
- |
1 |
13-32906874-A-G |
c.1259A>G |
p.Asp420Gly |
Missense |
10/27 |
- |
1 |
13-32906874-A-AA |
c.1259dup |
p.Asp420Glufs*32 |
Frameshift |
10/27 |
- |
1 |
13-32906876-C-A |
c.1261C>A |
p.Gln421Lys |
Missense |
10/27 |
- |
1 |
13-32906876-C-G |
c.1261C>G |
p.Gln421Glu |
Missense |
10/27 |
- |
1 |
13-32906876-C-T |
c.1261C>T |
p.Gln421* |
Nonsense |
10/27 |
- |
5 |
13-32906880-A-G |
c.1265A>G |
p.Asn422Ser |
Missense |
10/27 |
- |
1 |
13-32906880-AA-A |
c.1265del |
p.Asn422Ilefs*8 |
Frameshift |
10/27 |
- |
3 |
13-32906889-A-T |
c.1274A>T |
p.Glu425Val |
Missense |
10/27 |
- |
1 |
13-32906890-A-G |
c.1275A>G |
p.Glu425Glu |
Synonymous |
10/27 |
- |
8 |
13-32906892-A-C |
c.1277A>C |
p.Lys426Thr |
Missense |
10/27 |
- |
1 |
13-32906893-AA-A |
c.1278del |
p.Asp427Thrfs*3 |
Frameshift |
10/27 |
- |
5 |
13-32906893-A-AT |
c.1278_1279insT |
p.Asp427* |
Nonsense |
10/27 |
- |
1 |
13-32906894-G-C |
c.1279G>C |
p.Asp427His |
Missense |
10/27 |
- |
1 |
13-32906900-TT-CC |
c.1285_1286delinsCC |
p.Leu429Pro |
Missense |
10/27 |
- |
1 |
13-32906901-T-G |
c.1286T>G |
p.Leu429* |
Nonsense |
10/27 |
- |
2 |
13-32906901-T-C |
c.1286T>C |
p.Leu429Ser |
Missense |
10/27 |
- |
1 |
13-32906906-A-AT |
c.1291_1292insT |
p.Thr431Ilefs*21 |
Frameshift |
10/27 |
- |
1 |
13-32906907-ACA-A |
c.1292_1293del |
p.Thr431Argfs*20 |
Frameshift |
10/27 |
- |
1 |
13-32906907-C-T |
c.1292C>T |
p.Thr431Ile |
Missense |
10/27 |
- |
1 |
13-32906909-G-C |
c.1294G>C |
p.Glu432Gln |
Missense |
10/27 |
- |
1 |
13-32906909-G-T |
c.1294G>T |
p.Glu432* |
Nonsense |
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 |
- |
8 |
13-32906915-CAAAA-C |
c.1300_1303del |
p.Lys434Glufs*25 |
Frameshift |
10/27 |
- |
2 |
13-32906918-A-AA |
c.1303dup |
p.Arg435Lysfs*17 |
Frameshift |
10/27 |
- |
2 |
13-32906919-G-A |
c.1304G>A |
p.Arg435Lys |
Missense |
10/27 |
- |
1 |
13-32906921-A-G |
c.1306A>G |
p.Lys436Glu |
Missense |
10/27 |
- |
1 |
13-32906921-AAAGAAAGA-A |
c.1306_1313del |
p.Lys436Phefs*13 |
Frameshift |
10/27 |
- |
1 |
13-32906923-AGA-A |
c.1308_1309del |
p.Lys437Argfs*14 |
Frameshift |
10/27 |
- |
1 |
13-32906925-AAAGA-A |
c.1310_1313del |
p.Lys437Ilefs*22 |
Frameshift |
10/27 |
- |
31 |
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 |
13-32906929-T-C |
c.1314T>C |
p.Asp438Asp |
Synonymous |
10/27 |
- |
1 |
13-32906929-T-A |
c.1314T>A |
p.Asp438Glu |
Missense |
10/27 |
- |
1 |
13-32906932-TT-T |
c.1317del |
p.Thr441Leufs*19 |
Frameshift |
10/27 |
- |
2 |
13-32906933-TC-T |
c.1318del |
p.Thr441Leufs*19 |
Frameshift |
10/27 |
- |
2 |
13-32906933-C-T |
c.1318C>T |
p.Leu440Phe |
Missense |
10/27 |
- |
1 |
13-32906933-CT-AG |
c.1318_1319inv |
p.Leu440Ser |
Missense |
10/27 |
- |
1 |
13-32906935-TTACTT-T |
c.1320_1324del |
p.Thr441Argfs*9 |
Frameshift |
10/27 |
- |
2 |
13-32906936-TACTT-T |
c.1321_1324del |
p.Thr441Glnfs*18 |
Frameshift |
10/27 |
- |
2 |
13-32906937-C-T |
c.1322C>T |
p.Thr441Ile |
Missense |
10/27 |
- |
1 |
13-32906939-T-G |
c.1324T>G |
p.Ser442Ala |
Missense |
10/27 |
- |
1 |
13-32906939-TCA-AAC |
c.1324_1326delinsAAC |
p.Ser442Asn |
Missense |
10/27 |
- |
1 |
13-32906945-A-G |
c.1330A>G |
p.Asn444Asp |
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-CAC-C |
c.1341_1342del |
p.Arg448Tyrfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32906956-A-C |
c.1341A>C |
p.Pro447Pro |
Synonymous |
10/27 |
- |
1 |
13-32906957-C-T |
c.1342C>T |
p.Arg448Cys |
Missense |
10/27 |
- |
3 |
13-32906957-C-A |
c.1342C>A |
p.Arg448Ser |
Missense |
10/27 |
- |
2 |
13-32906958-GT-AA |
c.1343_1344delinsAA |
p.Arg448Gln |
Missense |
10/27 |
- |
1 |
13-32906958-G-A |
c.1343G>A |
p.Arg448His |
Missense |
10/27 |
- |
6 |
13-32906966-TAG-T |
c.1351_1352del |
p.Ser451Profs*10 |
Frameshift |
10/27 |
- |
1 |
13-32906966-AGC-TGA |
c.1351_1353delinsTGA |
p.Ser451* |
Nonsense |
10/27 |
- |
1 |
13-32906967-G-A |
c.1352G>A |
p.Ser451Asn |
Missense |
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 |
- |
2 |
13-32906970-CTACCAAAATCAGAGAAGCCATTAAAT-C |
c.1355_1380del |
p.Leu452Argfs*7 |
Frameshift |
10/27 |
- |
1 |
13-32906970-T-C |
c.1355T>C |
p.Leu452Pro |
Missense |
10/27 |
- |
1 |
13-32906977-A-G |
c.1362A>G |
p.Lys454Lys |
Synonymous |
10/27 |
- |
4 |
13-32906977-AA-A |
c.1362del |
p.Lys454Asnfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32906980-A-G |
c.1365A>G |
p.Ser455Ser |
Synonymous |
10/27 |
- |
42 |
13-32906981-G-C |
c.1366G>C |
p.Glu456Gln |
Missense |
10/27 |
- |
1 |
13-32906981-G-A |
c.1366G>A |
p.Glu456Lys |
Missense |
10/27 |
- |
1 |
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 |
13-32906986-G-A |
c.1371G>A |
p.Lys457Lys |
Synonymous |
10/27 |
- |
1 |
13-32906991-T-C |
c.1376T>C |
p.Leu459Ser |
Missense |
10/27 |
- |
2 |
13-32906995-T-G |
c.1380T>G |
p.Asn460Lys |
Missense |
10/27 |
- |
1 |
13-32906999-G-T |
c.1384G>T |
p.Glu462* |
Nonsense |
10/27 |
- |
1 |
13-32906999-G-A |
c.1384G>A |
p.Glu462Lys |
Missense |
10/27 |
- |
1 |
13-32907000-A-G |
c.1385A>G |
p.Glu462Gly |
Missense |
10/27 |
- |
19 |
13-32907000-A-T |
c.1385A>T |
p.Glu462Val |
Missense |
10/27 |
- |
4 |
13-32907002-AC-GAA |
c.1387_1388delinsGAA |
p.Thr463Glufs*5 |
Frameshift |
10/27 |
- |
2 |
13-32907002-AA-A |
c.1387del |
p.Thr463Glnfs*3 |
Frameshift |
10/27 |
- |
2 |
13-32907004-CAG-C |
c.1389_1390del |
p.Val464Glyfs*3 |
Frameshift |
10/27 |
- |
7 |
13-32907009-T-G |
c.1394T>G |
p.Val465Gly |
Missense |
10/27 |
- |
1 |
13-32907010-A-T |
c.1395A>T |
p.Val465Val |
Synonymous |
10/27 |
- |
3 |
13-32907010-A-G |
c.1395A>G |
p.Val465Val |
Synonymous |
10/27 |
- |
3 |
13-32907010-A-C |
c.1395A>C |
p.Val465Val |
Synonymous |
10/27 |
- |
6 |
13-32907014-A-T |
c.1399A>T |
p.Lys467* |
Nonsense |
10/27 |
- |
24 |
13-32907015-A-G |
c.1400A>G |
p.Lys467Arg |
Missense |
10/27 |
- |
1 |
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 |
13-32907026-G-T |
c.1411G>T |
p.Glu471* |
Nonsense |
10/27 |
- |
2 |
13-32907031-AGCATC-A |
c.1416_1420del |
p.Gln472Hisfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907031-G-C |
c.1416G>C |
p.Gln472His |
Missense |
10/27 |
- |
1 |
13-32907031-G-T |
c.1416G>T |
p.Gln472His |
Missense |
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 |
13-32907042-C-G |
c.1427C>G |
p.Ser476Cys |
Missense |
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 |
13-32907054-G-A |
c.1439G>A |
p.Cys480Tyr |
Missense |
10/27 |
- |
2 |
13-32907055-C-A |
c.1440C>A |
p.Cys480* |
Nonsense |
10/27 |
- |
2 |
13-32907056-A-G |
c.1441A>G |
p.Ile481Val |
Missense |
10/27 |
- |
2 |
13-32907059-TC-T |
c.1444del |
p.Ala483Glnfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907062-G-C |
c.1447G>C |
p.Ala483Pro |
Missense |
10/27 |
- |
3 |
13-32907063-CAGT-CAGTCAGT |
c.1448_1451dup |
p.Lys485Serfs*30 |
Frameshift |
10/27 |
- |
1 |
13-32907063-C-T |
c.1448C>T |
p.Ala483Val |
Missense |
10/27 |
- |
1 |
13-32907070-G-T |
c.1455G>T |
p.Lys485Asn |
Missense |
10/27 |
- |
1 |
13-32907070-G-C |
c.1455G>C |
p.Lys485Asn |
Missense |
10/27 |
- |
1 |
13-32907071-C-T |
c.1456C>T |
p.Gln486* |
Nonsense |
10/27 |
- |
1 |
13-32907074-G-T |
c.1459G>T |
p.Ala487Ser |
Missense |
10/27 |
- |
1 |
13-32907075-C-A |
c.1460C>A |
p.Ala487Glu |
Missense |
10/27 |
- |
6 |
13-32907076-A-T |
c.1461A>T |
p.Ala487Ala |
Synonymous |
10/27 |
- |
1 |
13-32907077-A-G |
c.1462A>G |
p.Ile488Val |
Missense |
10/27 |
- |
2 |
13-32907077-A-AA |
c.1462dup |
p.Ile488Asnfs*26 |
Frameshift |
10/27 |
- |
1 |
13-32907078-T-G |
c.1463T>G |
p.Ile488Arg |
Missense |
10/27 |
- |
1 |
13-32907081-C-G |
c.1466C>G |
p.Ser489Cys |
Missense |
10/27 |
- |
4 |
13-32907084-G-A |
c.1469G>A |
p.Gly490Glu |
Missense |
10/27 |
- |
1 |
13-32907084-GA-AC |
c.1469_1470delinsAC |
p.Gly490Asp |
Missense |
10/27 |
- |
1 |
13-32907087-C-G |
c.1472C>G |
p.Thr491Ser |
Missense |
10/27 |
- |
3 |
13-32907091-CTC-C |
c.1476_1477del |
p.Pro493Serfs*20 |
Frameshift |
10/27 |
- |
1 |
13-32907093-C-T |
c.1478C>T |
p.Pro493Leu |
Missense |
10/27 |
- |
2 |
13-32907098-G-A |
c.1483G>A |
p.Ala495Thr |
Missense |
10/27 |
- |
2 |
13-32907098-G-C |
c.1483G>C |
p.Ala495Pro |
Missense |
10/27 |
- |
2 |
13-32907102-TCT-T |
c.1487_1488del |
p.Ser496Phefs*17 |
Frameshift |
10/27 |
- |
1 |
13-32907102-C-T |
c.1487C>T |
p.Ser496Phe |
Missense |
10/27 |
- |
2 |
13-32907108-T-G |
c.1493T>G |
p.Phe498Cys |
Missense |
10/27 |
- |
1 |
13-32907110-C-T |
c.1495C>T |
p.Gln499* |
Nonsense |
10/27 |
- |
1 |
13-32907114-GG-G |
c.1499del |
p.Gly500Valfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32907114-GT-AG |
c.1499_1500delinsAG |
p.Gly500Glu |
Missense |
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-C-G |
c.1511C>G |
p.Ser504Cys |
Missense |
10/27 |
- |
1 |
13-32907126-TCT-T |
c.1511_1512del |
p.Ser504Tyrfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32907128-A-G |
c.1513A>G |
p.Ile505Val |
Missense |
10/27 |
- |
2 |
13-32907129-T-G |
c.1514T>G |
p.Ile505Arg |
Missense |
10/27 |
- |
2 |
13-32907129-T-C |
c.1514T>C |
p.Ile505Thr |
Missense |
10/27 |
- |
22 |
13-32907129-AT-A |
c.1514del |
p.Ile505Asnfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32907131-ATTCAG-A |
c.1516_1520del |
p.Phe506Asnfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907131-T-C |
c.1516T>C |
p.Phe506Leu |
Missense |
10/27 |
- |
1 |
13-32907133-C-A |
c.1518C>A |
p.Phe506Leu |
Missense |
10/27 |
- |
1 |
13-32907133-C-G |
c.1518C>G |
p.Phe506Leu |
Missense |
10/27 |
- |
1 |
13-32907133-C-T |
c.1518C>T |
p.Phe506Phe |
Synonymous |
10/27 |
- |
1 |
13-32907140-A-T |
c.1525A>T |
p.Arg509* |
Nonsense |
10/27 |
- |
1 |
13-32907140-AG-CA |
c.1525_1526delinsCA |
p.Arg509Gln |
Missense |
10/27 |
- |
1 |
13-32907140-AGA-TGG |
c.1525_1527delinsTGG |
p.Arg509Trp |
Missense |
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 |
13-32907146-TCA-AAC |
c.1531_1533delinsAAC |
p.Ser511Asn |
Missense |
10/27 |
- |
1 |
13-32907149-C-A |
c.1534C>A |
p.Pro512Thr |
Missense |
10/27 |
- |
1 |
13-32907153-A-G |
c.1538A>G |
p.Lys513Arg |
Missense |
10/27 |
- |
6 |
13-32907159-C-T |
c.1544C>T |
p.Thr515Ile |
Missense |
10/27 |
- |
1 |
13-32907161-TTT-T |
c.1546_1547del |
p.Phe516Glnfs*10 |
Frameshift |
10/27 |
- |
1 |
13-32907162-TT-T |
c.1547del |
p.Phe516Serfs*9 |
Frameshift |
10/27 |
- |
1 |
13-32907165-A-G |
c.1550A>G |
p.Asn517Ser |
Missense |
10/27 |
- |
8 |
13-32907165-A-T |
c.1550A>T |
p.Asn517Ile |
Missense |
10/27 |
- |
2 |
13-32907168-C-CT |
c.1553_1554insT |
p.Ser519Lysfs*8 |
Frameshift |
10/27 |
- |
1 |
13-32907169-A-C |
c.1554A>C |
p.Ala518Ala |
Synonymous |
10/27 |
- |
1 |
13-32907171-G-C |
c.1556G>C |
p.Ser519Thr |
Missense |
10/27 |
- |
1 |
13-32907179-G-T |
c.1564G>T |
p.Gly522Cys |
Missense |
10/27 |
- |
1 |
13-32907179-G-C |
c.1564G>C |
p.Gly522Arg |
Missense |
10/27 |
- |
3 |
13-32907180-GGT-G |
c.1565_1566del |
p.Gly522Alafs*4 |
Frameshift |
10/27 |
- |
1 |
13-32907183-A-G |
c.1568A>G |
p.His523Arg |
Missense |
10/27 |
- |
7 |
13-32907183-A-T |
c.1568A>T |
p.His523Leu |
Missense |
10/27 |
- |
1 |
13-32907185-TAT-T |
c.1570_1571del |
p.Met524Aspfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907186-T-C |
c.1571T>C |
p.Met524Thr |
Missense |
10/27 |
- |
1 |
13-32907188-A-G |
c.1573A>G |
p.Thr525Ala |
Missense |
10/27 |
- |
1 |
13-32907189-C-T |
c.1574C>T |
p.Thr525Ile |
Missense |
10/27 |
- |
1 |
13-32907189-C-G |
c.1574C>G |
p.Thr525Ser |
Missense |
10/27 |
- |
2 |
13-32907198-AA-A |
c.1583del |
p.Asn528Thrfs*30 |
Frameshift |
10/27 |
- |
2 |
13-32907198-A-G |
c.1583A>G |
p.Asn528Ser |
Missense |
10/27 |
- |
1 |
13-32907203-A-T |
c.1588A>T |
p.Lys530* |
Nonsense |
10/27 |
- |
1 |
13-32907206-A-G |
c.1591A>G |
p.Lys531Glu |
Missense |
10/27 |
- |
1 |
13-32907208-A-AA |
c.1593dup |
p.Glu532Argfs*3 |
Frameshift |
10/27 |
- |
3 |
13-32907208-A-G |
c.1593A>G |
p.Lys531Lys |
Synonymous |
10/27 |
- |
2 |
13-32907208-AA-A |
c.1593del |
p.Glu532Lysfs*26 |
Frameshift |
10/27 |
- |
2 |
13-32907209-G-T |
c.1594G>T |
p.Glu532* |
Nonsense |
10/27 |
- |
1 |
13-32907212-AA-A |
c.1597del |
p.Thr533Leufs*25 |
Frameshift |
10/27 |
- |
1 |
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 |
13-32907218-G-T |
c.1603G>T |
p.Ala535Ser |
Missense |
10/27 |
- |
1 |
13-32907220-C-T |
c.1605C>T |
p.Ala535Ala |
Synonymous |
10/27 |
- |
1 |
13-32907223-T-TT |
c.1608dup |
p.Glu537* |
Nonsense |
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-G |
c.1623A>G |
p.Glu541Glu |
Synonymous |
10/27 |
- |
1 |
13-32907238-A-T |
c.1623A>T |
p.Glu541Asp |
Missense |
10/27 |
- |
1 |
13-32907238-A-C |
c.1623A>C |
p.Glu541Asp |
Missense |
10/27 |
- |
1 |
13-32907241-A-G |
c.1626A>G |
p.Ile542Met |
Missense |
10/27 |
- |
2 |
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 |
- |
3 |
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 |
- |
4 |
13-32907259-G-A |
c.1644G>A |
p.Gln548Gln |
Synonymous |
10/27 |
- |
3 |
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 |
- |
2 |
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 |
- |
9 |
13-32907285-TTAATTGATAATGGA-T |
c.1670_1683del |
p.Leu557* |
Frameshift |
10/27 |
- |
1 |
13-32907285-T-G |
c.1670T>G |
p.Leu557* |
Nonsense |
10/27 |
- |
5 |
13-32907287-AA-A |
c.1672del |
p.Ile558Leufs*15 |
Frameshift |
10/27 |
- |
1 |
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 |
13-32907304-GG-G |
c.1689del |
p.Trp563Cysfs*10 |
Frameshift |
10/27 |
- |
2 |
13-32907304-G-C |
c.1689G>C |
p.Trp563Cys |
Missense |
10/27 |
- |
1 |
13-32907304-G-A |
c.1689G>A |
p.Trp563* |
Nonsense |
10/27 |
- |
1 |
13-32907309-C-T |
c.1694C>T |
p.Ala565Val |
Missense |
10/27 |
- |
1 |
13-32907317-A-G |
c.1702A>G |
p.Thr568Ala |
Missense |
10/27 |
- |
1 |
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 |
13-32907326-TT-T |
c.1711del |
p.Ser571Leufs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907326-TC-AA |
c.1711_1712delinsAA |
p.Ser571Asn |
Missense |
10/27 |
- |
1 |
13-32907327-C-T |
c.1712C>T |
p.Ser571Phe |
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 |
- |
2 |
13-32907329-G-C |
c.1714G>C |
p.Val572Leu |
Missense |
10/27 |
- |
1 |
13-32907331-TA-T |
c.1716del |
p.Ala573Leufs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907337-G-T |
c.1722G>T |
p.Leu574Phe |
Missense |
10/27 |
- |
1 |
13-32907337-G-C |
c.1722G>C |
p.Leu574Phe |
Missense |
10/27 |
- |
1 |
13-32907344-G-T |
c.1729G>T |
p.Ala577Ser |
Missense |
10/27 |
- |
1 |
13-32907347-G-C |
c.1732G>C |
p.Gly578Arg |
Missense |
10/27 |
- |
1 |
13-32907351-T-G |
c.1736T>G |
p.Leu579* |
Nonsense |
10/27 |
- |
2 |
13-32907353-A-G |
c.1738A>G |
p.Ile580Val |
Missense |
10/27 |
- |
1 |
13-32907359-A-AAA |
c.1744_1745insAA |
p.Thr582Lysfs*3 |
Frameshift |
10/27 |
- |
1 |
13-32907359-A-C |
c.1744A>C |
p.Thr582Pro |
Missense |
10/27 |
- |
20 |
13-32907359-A-G |
c.1744A>G |
p.Thr582Ala |
Missense |
10/27 |
- |
5 |
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 |
13-32907367-A-AT |
c.1752_1753insT |
p.Lys585* |
Nonsense |
10/27 |
- |
1 |
13-32907369-A-G |
c.1754A>G |
p.Lys585Arg |
Missense |
10/27 |
- |
1 |
13-32907369-AA-A |
c.1754del |
p.Lys585Argfs*29 |
Frameshift |
10/27 |
- |
5 |
13-32907370-AGAAAA-A |
c.1755_1759del |
p.Lys585Asnfs*3 |
Frameshift |
10/27 |
- |
6 |
13-32907375-AC-A |
c.1760del |
p.Thr587Lysfs*27 |
Frameshift |
10/27 |
- |
1 |
13-32907377-A-G |
c.1762A>G |
p.Asn588Asp |
Missense |
10/27 |
- |
3 |
13-32907378-AATAA-A |
c.1763_1766del |
p.Asn588Serfs*25 |
Frameshift |
10/27 |
- |
6 |
13-32907378-A-G |
c.1763A>G |
p.Asn588Ser |
Missense |
10/27 |
- |
2 |
13-32907380-TAA-T |
c.1765_1766del |
p.Lys589Valfs*7 |
Frameshift |
10/27 |
- |
1 |
13-32907384-T-G |
c.1769T>G |
p.Phe590Cys |
Missense |
10/27 |
- |
2 |
13-32907385-T-C |
c.1770T>C |
p.Phe590Phe |
Synonymous |
10/27 |
- |
1 |
13-32907386-AT-TA |
c.1771_1772delinsTA |
p.Ile591Tyr |
Missense |
10/27 |
- |
1 |
13-32907387-TT-AG |
c.1772_1773delinsAG |
p.Ile591Lys |
Missense |
10/27 |
- |
1 |
13-32907387-T-C |
c.1772T>C |
p.Ile591Thr |
Missense |
10/27 |
- |
2 |
13-32907388-TTTAT-T |
c.1773_1776del |
p.Ile591Metfs*22 |
Frameshift |
10/27 |
- |
4 |
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-G |
c.1780A>G |
p.Ile594Val |
Missense |
10/27 |
- |
1 |
13-32907395-A-T |
c.1780A>T |
p.Ile594Leu |
Missense |
10/27 |
- |
1 |
13-32907395-TA-T |
c.1780del |
p.Ile594Tyrfs*20 |
Frameshift |
10/27 |
- |
1 |
13-32907396-T-C |
c.1781T>C |
p.Ile594Thr |
Missense |
10/27 |
- |
1 |
13-32907398-C-T |
c.1783C>T |
p.His595Tyr |
Missense |
10/27 |
- |
1 |
13-32907401-G-A |
c.1786G>A |
p.Asp596Asn |
Missense |
10/27 |
- |
7 |
13-32907401-G-C |
c.1786G>C |
p.Asp596His |
Missense |
10/27 |
- |
11 |
13-32907401-G-T |
c.1786G>T |
p.Asp596Tyr |
Missense |
10/27 |
- |
1 |
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 |
- |
9 |
13-32907404-G-T |
c.1789G>T |
p.Glu597* |
Nonsense |
10/27 |
- |
1 |
13-32907404-G-A |
c.1789G>A |
p.Glu597Lys |
Missense |
10/27 |
- |
1 |
13-32907407-A-G |
c.1792A>G |
p.Thr598Ala |
Missense |
10/27 |
- |
27 |
13-32907407-AA-A |
c.1792del |
p.Thr598Hisfs*16 |
Frameshift |
10/27 |
- |
4 |
13-32907410-TC-GG |
c.1795_1796delinsGG |
p.Ser599Gly |
Missense |
10/27 |
- |
1 |
13-32907411-CT-AA |
c.1796_1797delinsAA |
p.Ser599* |
Nonsense |
10/27 |
- |
1 |
13-32907411-TCTTAT-T |
c.1796_1800del |
p.Ser599* |
Frameshift |
10/27 |
- |
13 |
13-32907411-C-T |
c.1796C>T |
p.Ser599Phe |
Missense |
10/27 |
- |
1 |
13-32907412-CTT-C |
c.1797_1798del |
p.Tyr600* |
Frameshift |
10/27 |
- |
1 |
13-32907413-T-C |
c.1798T>C |
p.Tyr600His |
Missense |
10/27 |
- |
6 |
13-32907413-T-G |
c.1798T>G |
p.Tyr600Asp |
Missense |
10/27 |
- |
1 |
13-32907415-T-A |
c.1800T>A |
p.Tyr600* |
Nonsense |
10/27 |
- |
3 |
13-32907416-A-G |
c.1801A>G |
p.Lys601Glu |
Missense |
10/27 |
- |
1 |
13-32907417-A-C |
c.1802A>C |
p.Lys601Thr |
Missense |
10/27 |
- |
1 |
13-32907417-AAA-A |
c.1802_1803del |
p.Lys601Argfs*14 |
Frameshift |
10/27 |
- |
1 |
13-32907418-A-T |
c.1803A>T |
p.Lys601Asn |
Missense |
10/27 |
- |
1 |
13-32907418-A-AA |
c.1803dup |
p.Gly602Argfs*14 |
Frameshift |
10/27 |
- |
6 |
13-32907418-A-C |
c.1803A>C |
p.Lys601Asn |
Missense |
10/27 |
- |
1 |
13-32907419-G-T |
c.1804G>T |
p.Gly602* |
Nonsense |
10/27 |
- |
2 |
13-32907419-G-A |
c.1804G>A |
p.Gly602Arg |
Missense |
10/27 |
- |
11 |
13-32907420-GA-AC |
c.1805_1806delinsAC |
p.Gly602Asp |
Missense |
10/27 |
- |
1 |
13-32907423-A-T |
c.1808A>T |
p.Lys603Ile |
Missense |
10/27 |
- |
1 |
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 |
- |
11 |
13-32907428-A-AA |
c.1813dup |
p.Ile605Asnfs*11 |
Frameshift |
10/27 |
- |
42 |
13-32907428-A-AC |
c.1813_1814insC |
p.Ile605Thrfs*11 |
Frameshift |
10/27 |
- |
2 |
13-32907429-T-C |
c.1814T>C |
p.Ile605Thr |
Missense |
10/27 |
- |
1 |
13-32907430-A-AA |
c.1815dup |
p.Pro606Thrfs*10 |
Frameshift |
10/27 |
- |
3 |
13-32907431-C-T |
c.1816C>T |
p.Pro606Ser |
Missense |
10/27 |
- |
1 |
13-32907432-C-T |
c.1817C>T |
p.Pro606Leu |
Missense |
10/27 |
- |
1 |
13-32907433-G-A |
c.1818G>A |
p.Pro606Pro |
Synonymous |
10/27 |
- |
1 |
13-32907435-A-C |
c.1820A>C |
p.Lys607Thr |
Missense |
10/27 |
- |
6 |
13-32907438-A-AA |
c.1823dup |
p.Asp608Glufs*8 |
Frameshift |
10/27 |
- |
1 |
13-32907440-C-G |
c.1825C>G |
p.Gln609Glu |
Missense |
10/27 |
- |
3 |
13-32907440-C-T |
c.1825C>T |
p.Gln609* |
Nonsense |
10/27 |
- |
2 |
13-32907447-C-G |
c.1832C>G |
p.Ser611* |
Nonsense |
10/27 |
- |
5 |
13-32907447-C-A |
c.1832C>A |
p.Ser611* |
Nonsense |
10/27 |
- |
10 |
13-32907447-C-T |
c.1832C>T |
p.Ser611Leu |
Missense |
10/27 |
- |
1 |
13-32907448-A-AA |
c.1833dup |
p.Glu612Argfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32907449-G-T |
c.1834G>T |
p.Glu612* |
Nonsense |
10/27 |
- |
1 |
13-32907449-G-A |
c.1834G>A |
p.Glu612Lys |
Missense |
10/27 |
- |
1 |
13-32907450-A-T |
c.1835A>T |
p.Glu612Val |
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 |
- |
3 |
13-32907460-ACT-A |
c.1845_1846del |
p.Asn615Lysfs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907461-T-TT |
c.1846dup |
p.Cys616Leufs*6 |
Frameshift |
10/27 |
- |
1 |
13-32907464-T-C |
c.1849T>C |
p.Ser617Pro |
Missense |
10/27 |
- |
1 |
13-32907465-C-A |
c.1850C>A |
p.Ser617* |
Nonsense |
10/27 |
- |
2 |
13-32907465-C-G |
c.1850C>G |
p.Ser617* |
Nonsense |
10/27 |
- |
1 |
13-32907468-C-T |
c.1853C>T |
p.Ala618Val |
Missense |
10/27 |
- |
1 |
13-32907470-C-T |
c.1855C>T |
p.Gln619* |
Nonsense |
10/27 |
- |
3 |
13-32907471-A-AA |
c.1856dup |
p.Phe620Valfs*2 |
Frameshift |
10/27 |
- |
1 |
13-32907474-TTTGAAGC-T |
c.1859_1865del |
p.Phe620* |
Frameshift |
10/27 |
- |
1 |
13-32907480-C-T |
c.1865C>T |
p.Ala622Val |
Missense |
10/27 |
- |
3 |
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 |
- |
2 |
13-32907502-TTACATTT-T |
c.1887_1893del |
p.Thr630Glnfs*12 |
Frameshift |
10/27 |
- |
2 |
13-32907503-A-AAA |
c.1888_1889insAA |
p.Thr630Lysfs*15 |
Frameshift |
10/27 |
- |
1 |
13-32907503-A-AA |
c.1888dup |
p.Thr630Asnfs*6 |
Frameshift |
10/27 |
- |
4 |
13-32907504-C-T |
c.1889C>T |
p.Thr630Ile |
Missense |
10/27 |
- |
14 |
13-32907504-AC-A |
c.1889del |
p.Thr630Asnfs*14 |
Frameshift |
10/27 |
- |
3 |
13-32907504-CA-AC |
c.1889_1890delinsAC |
p.Thr630Asn |
Missense |
10/27 |
- |
1 |
13-32907506-T-C |
c.1891T>C |
p.Phe631Leu |
Missense |
10/27 |
- |
1 |
13-32907508-T-G |
c.1893T>G |
p.Phe631Leu |
Missense |
10/27 |
- |
1 |
13-32907508-T-A |
c.1893T>A |
p.Phe631Leu |
Missense |
10/27 |
- |
1 |
13-32907508-T-TT |
c.1893dup |
p.Ala632Cysfs*4 |
Frameshift |
10/27 |
- |
1 |
13-32907510-C-G |
c.1895C>G |
p.Ala632Gly |
Missense |
10/27 |
- |
1 |
13-32907516-GC-G |
c.1901del |
p.Ala634Valfs*10 |
Frameshift |
10/27 |
- |
2 |
13-32907516-CT-AG |
c.1901_1902inv |
p.Ala634Glu |
Missense |
10/27 |
- |
1 |
13-32907520-ATTCAG-A |
c.1905_1909del |
p.Asp635Glufs*15 |
SpliceDonorDeletion |
10/27 |
- |
1 |
13-32907521-TC-AG |
c.1906_1907delinsAG |
p.Ser636Arg |
Missense |
10/27 |
- |
1 |
13-32907524-G-C |
c.1909G>C |
p.Gly637Arg |
Missense |
10/27 |
- |
1 |
13-32907524-AGGTACCTCTGTCTTTTTTTTTTTGTAAATAGTACATATAGTTTTATAGATGACGATTCC-A |
c.1909_1909+58del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
10/27 |
10/26 |
1 |
13-32907525-G-A |
c.1909+1G>A |
- |
IntronicSNV |
- |
10/26 |
3 |
13-32907532-CT-C |
c.1909+8del |
- |
IntronicDeletion |
- |
10/26 |
1 |
13-32907546-TT-T |
c.1909+22del |
- |
IntronicDeletion |
- |
10/26 |
5 |
13-32907767-C-T |
c.1909+243C>T |
- |
IntronicSNV |
- |
10/26 |
1 |
13-32910056-T-G |
c.1910-346T>G |
- |
IntronicSNV |
- |
10/26 |
1 |
13-32910328-T-C |
c.1910-74T>C |
- |
IntronicSNV |
- |
10/26 |
10 |
13-32910351-G-T |
c.1910-51G>T |
- |
IntronicSNV |
- |
10/26 |
10 |
13-32910359-T-C |
c.1910-43T>C |
- |
IntronicSNV |
- |
10/26 |
1 |
13-32910365-G-GG |
c.1910-37dup |
- |
IntronicInsertion |
- |
10/26 |
1 |
13-32910403-T-C |
c.1911T>C |
p.Gly637Gly |
Synonymous |
11/27 |
- |
4 |
13-32910403-T-G |
c.1911T>G |
p.Gly637Gly |
Synonymous |
11/27 |
- |
4 |
13-32910404-TTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTT-T |
c.1912_1970del |
p.Leu638Valfs*4 |
Unclassified |
11/27 |
- |
1 |
13-32910405-T-TT |
c.1913dup |
p.Leu638Phefs*14 |
Frameshift |
11/27 |
- |
1 |
13-32910407-T-G |
c.1915T>G |
p.Leu639Val |
Missense |
11/27 |
- |
1 |
13-32910413-TC-CT |
c.1921_1922delinsCT |
p.Ser641Leu |
Missense |
11/27 |
- |
1 |
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 |
13-32910417-TC-T |
c.1925del |
p.Ser642Leufs*2 |
Frameshift |
11/27 |
- |
1 |
13-32910421-TG-T |
c.1929del |
p.Arg645Glufs*15 |
Frameshift |
11/27 |
- |
15 |
13-32910424-A-AT |
c.1932_1933insT |
p.Arg645* |
Nonsense |
11/27 |
- |
2 |
13-32910425-AG-GA |
c.1933_1934delinsGA |
p.Arg645Glu |
Missense |
11/27 |
- |
1 |
13-32910426-G-A |
c.1934G>A |
p.Arg645Lys |
Missense |
11/27 |
- |
1 |
13-32910426-G-GG |
c.1934dup |
p.Ser646Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32910430-C-A |
c.1938C>A |
p.Ser646Arg |
Missense |
11/27 |
- |
3 |
13-32910430-C-T |
c.1938C>T |
p.Ser646Ser |
Synonymous |
11/27 |
- |
12 |
13-32910431-CTGTT-C |
c.1939_1942del |
p.Cys647Hisfs*12 |
Frameshift |
11/27 |
- |
1 |
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 |
- |
2 |
13-32910440-A-G |
c.1948A>G |
p.Asn650Asp |
Missense |
11/27 |
- |
1 |
13-32910443-G-A |
c.1951G>A |
p.Asp651Asn |
Missense |
11/27 |
- |
1 |
13-32910443-G-T |
c.1951G>T |
p.Asp651Tyr |
Missense |
11/27 |
- |
1 |
13-32910444-A-G |
c.1952A>G |
p.Asp651Gly |
Missense |
11/27 |
- |
2 |
13-32910445-T-G |
c.1953T>G |
p.Asp651Glu |
Missense |
11/27 |
- |
1 |
13-32910447-C-T |
c.1955C>T |
p.Ser652Phe |
Missense |
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 |
- |
11 |
13-32910454-A-AA |
c.1962dup |
p.Pro655Thrfs*7 |
Frameshift |
11/27 |
- |
3 |
13-32910455-C-T |
c.1963C>T |
p.Pro655Ser |
Missense |
11/27 |
- |
1 |
13-32910456-C-A |
c.1964C>A |
p.Pro655Gln |
Missense |
11/27 |
- |
5 |
13-32910456-C-G |
c.1964C>G |
p.Pro655Arg |
Missense |
11/27 |
- |
22 |
13-32910456-C-T |
c.1964C>T |
p.Pro655Leu |
Missense |
11/27 |
- |
6 |
13-32910456-CC-C |
c.1964del |
p.Pro655Glnfs*5 |
Frameshift |
11/27 |
- |
5 |
13-32910462-TT-T |
c.1970del |
p.Leu657Cysfs*3 |
Frameshift |
11/27 |
- |
1 |
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 |
13-32910477-C-G |
c.1985C>G |
p.Ser662Cys |
Missense |
11/27 |
- |
1 |
13-32910481-TT-T |
c.1989del |
p.Phe663Leufs*5 |
Frameshift |
11/27 |
- |
2 |
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 |
13-32910495-G-A |
c.2003G>A |
p.Arg668Lys |
Missense |
11/27 |
- |
1 |
13-32910498-A-T |
c.2006A>T |
p.Lys669Ile |
Missense |
11/27 |
- |
1 |
13-32910499-A-AA |
c.2007dup |
p.Cys670Metfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32910500-TG-AC |
c.2008_2009delinsAC |
p.Cys670Thr |
Missense |
11/27 |
- |
1 |
13-32910502-T-G |
c.2010T>G |
p.Cys670Trp |
Missense |
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 |
13-32910516-C-G |
c.2024C>G |
p.Thr675Arg |
Missense |
11/27 |
- |
1 |
13-32910527-A-ATT |
c.2035_2036insTT |
p.Asn679Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32910531-C-CTT |
c.2039_2040insTT |
p.Val681* |
Nonsense |
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 |
- |
2 |
13-32910540-C-G |
c.2048C>G |
p.Ser683Cys |
Missense |
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 |
13-32910544-G-T |
c.2052G>T |
p.Gln684His |
Missense |
11/27 |
- |
1 |
13-32910544-G-C |
c.2052G>C |
p.Gln684His |
Missense |
11/27 |
- |
1 |
13-32910548-C-A |
c.2056C>A |
p.Leu686Ile |
Missense |
11/27 |
- |
1 |
13-32910551-TGATTA-T |
c.2059_2063del |
p.Asp687* |
Frameshift |
11/27 |
- |
4 |
13-32910561-A-G |
c.2069A>G |
p.Glu690Gly |
Missense |
11/27 |
- |
2 |
13-32910563-G-A |
c.2071G>A |
p.Ala691Thr |
Missense |
11/27 |
- |
1 |
13-32910563-AG-A |
c.2071del |
p.Ala691Glnfs*39 |
Frameshift |
11/27 |
- |
1 |
13-32910568-AA-A |
c.2076del |
p.Lys692Asnfs*38 |
Frameshift |
11/27 |
- |
1 |
13-32910569-T-G |
c.2077T>G |
p.Cys693Gly |
Missense |
11/27 |
- |
1 |
13-32910574-T-C |
c.2082T>C |
p.Asn694Asn |
Synonymous |
11/27 |
- |
1 |
13-32910582-A-G |
c.2090A>G |
p.Lys697Arg |
Missense |
11/27 |
- |
1 |
13-32910584-C-G |
c.2092C>G |
p.Leu698Val |
Missense |
11/27 |
- |
1 |
13-32910586-TA-T |
c.2094del |
p.Gln699Serfs*31 |
Frameshift |
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 |
- |
4 |
13-32910588-A-T |
c.2096A>T |
p.Gln699Leu |
Missense |
11/27 |
- |
1 |
13-32910591-TT-T |
c.2099del |
p.Leu700Tyrfs*30 |
Frameshift |
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 |
13-32910601-C-T |
c.2109C>T |
p.Thr703Thr |
Synonymous |
11/27 |
- |
1 |
13-32910601-C-A |
c.2109C>A |
p.Thr703Thr |
Synonymous |
11/27 |
- |
1 |
13-32910601-C-G |
c.2109C>G |
p.Thr703Thr |
Synonymous |
11/27 |
- |
1 |
13-32910603-CC-C |
c.2111del |
p.Pro704Glnfs*26 |
Frameshift |
11/27 |
- |
1 |
13-32910611-G-A |
c.2119G>A |
p.Asp707Asn |
Missense |
11/27 |
- |
1 |
13-32910613-T-A |
c.2121T>A |
p.Asp707Glu |
Missense |
11/27 |
- |
1 |
13-32910613-T-G |
c.2121T>G |
p.Asp707Glu |
Missense |
11/27 |
- |
1 |
13-32910614-T-A |
c.2122T>A |
p.Ser708Thr |
Missense |
11/27 |
- |
2 |
13-32910617-C-G |
c.2125C>G |
p.Leu709Val |
Missense |
11/27 |
- |
1 |
13-32910617-C-A |
c.2125C>A |
p.Leu709Met |
Missense |
11/27 |
- |
1 |
13-32910618-T-TA |
c.2126_2127insA |
p.Ser710Valfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32910619-G-A |
c.2127G>A |
p.Leu709Leu |
Synonymous |
11/27 |
- |
6 |
13-32910619-G-C |
c.2127G>C |
p.Leu709Leu |
Synonymous |
11/27 |
- |
6 |
13-32910617-C-T |
c.2125C>T |
p.Leu709Leu |
Synonymous |
11/27 |
- |
4 |
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-T |
c.2133C>T |
p.Cys711Cys |
Synonymous |
11/27 |
- |
1 |
13-32910625-C-A |
c.2133C>A |
p.Cys711* |
Nonsense |
11/27 |
- |
2 |
13-32910628-G-T |
c.2136G>T |
p.Leu712Leu |
Synonymous |
11/27 |
- |
1 |
13-32910630-A-T |
c.2138A>T |
p.Gln713Leu |
Missense |
11/27 |
- |
7 |
13-32910630-A-C |
c.2138A>C |
p.Gln713Pro |
Missense |
11/27 |
- |
1 |
13-32910632-G-A |
c.2140G>A |
p.Glu714Lys |
Missense |
11/27 |
- |
1 |
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 |
13-32910642-TG-T |
c.2150del |
p.Cys717Leufs*13 |
Frameshift |
11/27 |
- |
1 |
13-32910643-T-A |
c.2151T>A |
p.Cys717* |
Nonsense |
11/27 |
- |
1 |
13-32910644-TG-T |
c.2152del |
p.Glu718Lysfs*12 |
Frameshift |
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 |
13-32910659-A-G |
c.2167A>G |
p.Ser723Gly |
Missense |
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 |
- |
8 |
13-32910674-G-A |
c.2182G>A |
p.Asp728Asn |
Missense |
11/27 |
- |
1 |
13-32910675-A-T |
c.2183A>T |
p.Asp728Val |
Missense |
11/27 |
- |
1 |
13-32910675-A-C |
c.2183A>C |
p.Asp728Ala |
Missense |
11/27 |
- |
2 |
13-32910676-T-G |
c.2184T>G |
p.Asp728Glu |
Missense |
11/27 |
- |
1 |
13-32910676-T-A |
c.2184T>A |
p.Asp728Glu |
Missense |
11/27 |
- |
1 |
13-32910678-T-C |
c.2186T>C |
p.Ile729Thr |
Missense |
11/27 |
- |
7 |
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 |
- |
3 |
13-32910701-G-A |
c.2209G>A |
p.Ala737Thr |
Missense |
11/27 |
- |
1 |
13-32910701-G-T |
c.2209G>T |
p.Ala737Ser |
Missense |
11/27 |
- |
1 |
13-32910702-C-T |
c.2210C>T |
p.Ala737Val |
Missense |
11/27 |
- |
1 |
13-32910705-G-A |
c.2213G>A |
p.Cys738Tyr |
Missense |
11/27 |
- |
1 |
13-32910710-C-T |
c.2218C>T |
p.Pro740Ser |
Missense |
11/27 |
- |
1 |
13-32910713-G-C |
c.2221G>C |
p.Val741Leu |
Missense |
11/27 |
- |
1 |
13-32910713-G-T |
c.2221G>T |
p.Val741Leu |
Missense |
11/27 |
- |
1 |
13-32910716-C-T |
c.2224C>T |
p.Gln742* |
Nonsense |
11/27 |
- |
11 |
13-32910716-C-G |
c.2224C>G |
p.Gln742Glu |
Missense |
11/27 |
- |
2 |
13-32910716-C-A |
c.2224C>A |
p.Gln742Lys |
Missense |
11/27 |
- |
2 |
13-32910718-A-G |
c.2226A>G |
p.Gln742Gln |
Synonymous |
11/27 |
- |
1 |
13-32910719-C-A |
c.2227C>A |
p.His743Asn |
Missense |
11/27 |
- |
1 |
13-32910721-T-C |
c.2229T>C |
p.His743His |
Synonymous |
11/27 |
- |
40 |
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 |
- |
3 |
13-32910725-A-G |
c.2233A>G |
p.Lys745Glu |
Missense |
11/27 |
- |
3 |
13-32910728-GTG-ATC |
c.2236_2238delinsATC |
p.Val746Ile |
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 |
13-32910737-A-G |
c.2245A>G |
p.Ser749Gly |
Missense |
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 |
- |
6 |
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 |
- |
3 |
13-32910761-A-T |
c.2269A>T |
p.Lys757* |
Nonsense |
11/27 |
- |
1 |
13-32910764-AG-TT |
c.2272_2273delinsTT |
p.Ser758Phe |
Missense |
11/27 |
- |
1 |
13-32910764-AA-A |
c.2272del |
p.Ser758Valfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32910765-G-C |
c.2273G>C |
p.Ser758Thr |
Missense |
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-C-CT |
c.2287_2288insT |
p.His763Leufs*2 |
Frameshift |
11/27 |
- |
1 |
13-32910779-TC-T |
c.2287del |
p.His763Metfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32910782-G-A |
c.2290G>A |
p.Glu764Lys |
Missense |
11/27 |
- |
1 |
13-32910785-A-C |
c.2293A>C |
p.Asn765His |
Missense |
11/27 |
- |
1 |
13-32910788-G-A |
c.2296G>A |
p.Ala766Thr |
Missense |
11/27 |
- |
1 |
13-32910799-TT-T |
c.2307del |
p.Ile770Phefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32910800-A-C |
c.2308A>C |
p.Ile770Leu |
Missense |
11/27 |
- |
1 |
13-32910801-T-A |
c.2309T>A |
p.Ile770Asn |
Missense |
11/27 |
- |
1 |
13-32910803-T-C |
c.2311T>C |
p.Leu771Leu |
Synonymous |
11/27 |
- |
9 |
13-32910804-T-A |
c.2312T>A |
p.Leu771* |
Nonsense |
11/27 |
- |
1 |
13-32910804-T-G |
c.2312T>G |
p.Leu771* |
Nonsense |
11/27 |
- |
1 |
13-32910805-A-T |
c.2313A>T |
p.Leu771Phe |
Missense |
11/27 |
- |
1 |
13-32910812-A-G |
c.2320A>G |
p.Thr774Ala |
Missense |
11/27 |
- |
3 |
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 |
- |
6 |
13-32910831-C-G |
c.2339C>G |
p.Ser780* |
Nonsense |
11/27 |
- |
8 |
13-32910831-C-T |
c.2339C>T |
p.Ser780Leu |
Missense |
11/27 |
- |
1 |
13-32910840-T-C |
c.2348T>C |
p.Val783Ala |
Missense |
11/27 |
- |
1 |
13-32910842-ATG-CAT |
c.2350_2352inv |
p.Met784His |
Missense |
11/27 |
- |
1 |
13-32910842-A-G |
c.2350A>G |
p.Met784Val |
Missense |
11/27 |
- |
26 |
13-32910845-A-G |
c.2353A>G |
p.Ile785Val |
Missense |
11/27 |
- |
1 |
13-32910851-AG-CA |
c.2359_2360delinsCA |
p.Arg787Gln |
Missense |
11/27 |
- |
1 |
13-32910852-G-A |
c.2360G>A |
p.Arg787Lys |
Missense |
11/27 |
- |
1 |
13-32910855-G-A |
c.2363G>A |
p.Gly788Asp |
Missense |
11/27 |
- |
1 |
13-32910859-AA-A |
c.2367del |
p.Glu790Asnfs*20 |
Frameshift |
11/27 |
- |
2 |
13-32910859-A-AT |
c.2367_2368insT |
p.Glu790* |
Nonsense |
11/27 |
- |
1 |
13-32910860-G-T |
c.2368G>T |
p.Glu790* |
Nonsense |
11/27 |
- |
1 |
13-32910860-AG-A |
c.2368del |
p.Glu790Asnfs*20 |
Frameshift |
11/27 |
- |
2 |
13-32910864-C-A |
c.2372C>A |
p.Ser791* |
Nonsense |
11/27 |
- |
2 |
13-32910868-C-G |
c.2376C>G |
p.Tyr792* |
Nonsense |
11/27 |
- |
5 |
13-32910868-C-A |
c.2376C>A |
p.Tyr792* |
Nonsense |
11/27 |
- |
6 |
13-32910878-G-A |
c.2386G>A |
p.Asp796Asn |
Missense |
11/27 |
- |
1 |
13-32910881-A-C |
c.2389A>C |
p.Lys797Gln |
Missense |
11/27 |
- |
1 |
13-32910882-A-G |
c.2390A>G |
p.Lys797Arg |
Missense |
11/27 |
- |
1 |
13-32910884-C-T |
c.2392C>T |
p.Leu798Phe |
Missense |
11/27 |
- |
2 |
13-32910887-A-T |
c.2395A>T |
p.Lys799* |
Nonsense |
11/27 |
- |
1 |
13-32910888-A-G |
c.2396A>G |
p.Lys799Arg |
Missense |
11/27 |
- |
2 |
13-32910890-G-A |
c.2398G>A |
p.Gly800Ser |
Missense |
11/27 |
- |
1 |
13-32910891-G-T |
c.2399G>T |
p.Gly800Val |
Missense |
11/27 |
- |
1 |
13-32910893-A-C |
c.2401A>C |
p.Asn801His |
Missense |
11/27 |
- |
1 |
13-32910894-AACAATTATGAATCTGATGT-A |
c.2402_2420del |
p.Asn801Metfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32910894-AACAATTATGAA-A |
c.2402_2412del |
p.Asn801Ilefs*2 |
Frameshift |
11/27 |
- |
3 |
13-32910902-G-A |
c.2410G>A |
p.Glu804Lys |
Missense |
11/27 |
- |
1 |
13-32910902-G-C |
c.2410G>C |
p.Glu804Gln |
Missense |
11/27 |
- |
1 |
13-32910904-A-T |
c.2412A>T |
p.Glu804Asp |
Missense |
11/27 |
- |
1 |
13-32910904-A-G |
c.2412A>G |
p.Glu804Glu |
Synonymous |
11/27 |
- |
2 |
13-32910904-A-C |
c.2412A>C |
p.Glu804Asp |
Missense |
11/27 |
- |
1 |
13-32910908-G-A |
c.2416G>A |
p.Asp806Asn |
Missense |
11/27 |
- |
1 |
13-32910908-G-C |
c.2416G>C |
p.Asp806His |
Missense |
11/27 |
- |
5 |
13-32910908-TG-T |
c.2416del |
p.Asp806Metfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32910916-A-T |
c.2424A>T |
p.Glu808Asp |
Missense |
11/27 |
- |
1 |
13-32910916-A-C |
c.2424A>C |
p.Glu808Asp |
Missense |
11/27 |
- |
1 |
13-32910918-T-G |
c.2426T>G |
p.Leu809* |
Nonsense |
11/27 |
- |
2 |
13-32910922-CC-C |
c.2430del |
p.Asn812Ilefs*13 |
Frameshift |
11/27 |
- |
2 |
13-32910927-AA-A |
c.2435del |
p.Asn812Ilefs*13 |
Frameshift |
11/27 |
- |
2 |
13-32910931-T-TT |
c.2439dup |
p.Pro814Serfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32910934-CC-C |
c.2442del |
p.Met815Trpfs*10 |
Frameshift |
11/27 |
- |
6 |
13-32910938-GG-G |
c.2446del |
p.Glu816Lysfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32910938-G-A |
c.2446G>A |
p.Glu816Lys |
Missense |
11/27 |
- |
1 |
13-32910939-A-T |
c.2447A>T |
p.Glu816Val |
Missense |
11/27 |
- |
1 |
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 |
13-32910950-G-T |
c.2458G>T |
p.Asp820Tyr |
Missense |
11/27 |
- |
1 |
13-32910951-A-G |
c.2459A>G |
p.Asp820Gly |
Missense |
11/27 |
- |
3 |
13-32910952-T-A |
c.2460T>A |
p.Asp820Glu |
Missense |
11/27 |
- |
1 |
13-32910953-G-A |
c.2461G>A |
p.Val821Ile |
Missense |
11/27 |
- |
2 |
13-32910956-T-C |
c.2464T>C |
p.Cys822Arg |
Missense |
11/27 |
- |
1 |
13-32910958-T-A |
c.2466T>A |
p.Cys822* |
Nonsense |
11/27 |
- |
1 |
13-32910958-GT-G |
c.2466del |
p.Cys822Trpfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32910958-T-G |
c.2466T>G |
p.Cys822Trp |
Missense |
11/27 |
- |
1 |
13-32910963-T-G |
c.2471T>G |
p.Leu824* |
Nonsense |
11/27 |
- |
2 |
13-32910963-T-C |
c.2471T>C |
p.Leu824Ser |
Missense |
11/27 |
- |
1 |
13-32910963-TTAAATG-T |
c.2471_2476del |
p.Leu824_Glu826delins* |
MultiAAMissense |
11/27 |
- |
2 |
13-32910968-G-T |
c.2476G>T |
p.Glu826* |
Nonsense |
11/27 |
- |
1 |
13-32910968-G-A |
c.2476G>A |
p.Glu826Lys |
Missense |
11/27 |
- |
1 |
13-32910969-A-G |
c.2477A>G |
p.Glu826Gly |
Missense |
11/27 |
- |
1 |
13-32910974-T-C |
c.2482T>C |
p.Tyr828His |
Missense |
11/27 |
- |
1 |
13-32910976-T-A |
c.2484T>A |
p.Tyr828* |
Nonsense |
11/27 |
- |
1 |
13-32910976-T-G |
c.2484T>G |
p.Tyr828* |
Nonsense |
11/27 |
- |
1 |
13-32910980-A-G |
c.2488A>G |
p.Asn830Asp |
Missense |
11/27 |
- |
2 |
13-32910982-C-G |
c.2490C>G |
p.Asn830Lys |
Missense |
11/27 |
- |
3 |
13-32910982-C-A |
c.2490C>A |
p.Asn830Lys |
Missense |
11/27 |
- |
3 |
13-32910982-C-T |
c.2490C>T |
p.Asn830Asn |
Synonymous |
11/27 |
- |
4 |
13-32910983-G-A |
c.2491G>A |
p.Val831Ile |
Missense |
11/27 |
- |
2 |
13-32910984-T-C |
c.2492T>C |
p.Val831Ala |
Missense |
11/27 |
- |
1 |
13-32910985-T-TT |
c.2493dup |
p.Glu832* |
Nonsense |
11/27 |
- |
1 |
13-32910986-G-A |
c.2494G>A |
p.Glu832Lys |
Missense |
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 |
13-32910989-C-G |
c.2497C>G |
p.Leu833Val |
Missense |
11/27 |
- |
1 |
13-32910994-TG-T |
c.2502del |
p.Leu834Phefs*7 |
Frameshift |
11/27 |
- |
1 |
13-32910995-C-T |
c.2503C>T |
p.Pro835Ser |
Missense |
11/27 |
- |
1 |
13-32910995-CC-TA |
c.2503_2504delinsTA |
p.Pro835* |
Nonsense |
11/27 |
- |
1 |
13-32910997-A-AA |
c.2505dup |
p.Pro836Thrfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32910998-C-T |
c.2506C>T |
p.Pro836Ser |
Missense |
11/27 |
- |
1 |
13-32911002-A-G |
c.2510A>G |
p.Glu837Gly |
Missense |
11/27 |
- |
1 |
13-32911013-AGA-TGG |
c.2521_2523delinsTGG |
p.Arg841Trp |
Missense |
11/27 |
- |
4 |
13-32911013-AGA-CAT |
c.2521_2523delinsCAT |
p.Arg841His |
Missense |
11/27 |
- |
1 |
13-32911030-A-C |
c.2538A>C |
p.Ser846Ser |
Synonymous |
11/27 |
- |
2 |
13-32911030-A-G |
c.2538A>G |
p.Ser846Ser |
Synonymous |
11/27 |
- |
2 |
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 |
- |
3 |
13-32911042-A-G |
c.2550A>G |
p.Gln850Gln |
Synonymous |
11/27 |
- |
3 |
13-32911043-T-G |
c.2551T>G |
p.Phe851Val |
Missense |
11/27 |
- |
1 |
13-32911044-T-G |
c.2552T>G |
p.Phe851Cys |
Missense |
11/27 |
- |
1 |
13-32911053-A-G |
c.2561A>G |
p.Asn854Ser |
Missense |
11/27 |
- |
1 |
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 |
13-32911070-A-G |
c.2578A>G |
p.Ile860Val |
Missense |
11/27 |
- |
1 |
13-32911076-A-G |
c.2584A>G |
p.Lys862Glu |
Missense |
11/27 |
- |
1 |
13-32911077-A-G |
c.2585A>G |
p.Lys862Arg |
Missense |
11/27 |
- |
2 |
13-32911077-A-C |
c.2585A>C |
p.Lys862Thr |
Missense |
11/27 |
- |
1 |
13-32911079-A-G |
c.2587A>G |
p.Asn863Asp |
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 |
- |
7 |
13-32911081-AT-A |
c.2589del |
p.Gln864Lysfs*10 |
Frameshift |
11/27 |
- |
3 |
13-32911081-T-A |
c.2589T>A |
p.Asn863Lys |
Missense |
11/27 |
- |
2 |
13-32911081-T-G |
c.2589T>G |
p.Asn863Lys |
Missense |
11/27 |
- |
2 |
13-32911082-C-T |
c.2590C>T |
p.Gln864* |
Nonsense |
11/27 |
- |
2 |
13-32911087-AA-A |
c.2595del |
p.Glu866Lysfs*8 |
Frameshift |
11/27 |
- |
4 |
13-32911088-AGAAA-A |
c.2596_2599del |
p.Glu866Leufs*7 |
Frameshift |
11/27 |
- |
1 |
13-32911094-A-G |
c.2602A>G |
p.Thr868Ala |
Missense |
11/27 |
- |
1 |
13-32911098-TC-T |
c.2606del |
p.Ser869* |
Frameshift |
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 |
- |
6 |
13-32911104-C-A |
c.2612C>A |
p.Ser871* |
Nonsense |
11/27 |
- |
2 |
13-32911104-C-G |
c.2612C>G |
p.Ser871* |
Nonsense |
11/27 |
- |
2 |
13-32911107-A-G |
c.2615A>G |
p.Lys872Arg |
Missense |
11/27 |
- |
1 |
13-32911111-A-T |
c.2619A>T |
p.Ile873Ile |
Synonymous |
11/27 |
- |
1 |
13-32911111-A-C |
c.2619A>C |
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 |
- |
5 |
13-32911133-G-T |
c.2641G>T |
p.Glu881* |
Nonsense |
11/27 |
- |
3 |
13-32911136-C-T |
c.2644C>T |
p.Leu882Phe |
Missense |
11/27 |
- |
1 |
13-32911143-C-G |
c.2651C>G |
p.Ser884* |
Nonsense |
11/27 |
- |
2 |
13-32911145-AGACA-A |
c.2653_2656del |
p.Asp885Metfs*9 |
Frameshift |
11/27 |
- |
3 |
13-32911149-A-T |
c.2657A>T |
p.Asn886Ile |
Missense |
11/27 |
- |
1 |
13-32911149-AA-A |
c.2657del |
p.Asn886Metfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32911163-G-C |
c.2671G>C |
p.Val891Leu |
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 |
13-32911169-C-T |
c.2677C>T |
p.Gln893* |
Nonsense |
11/27 |
- |
1 |
13-32911170-A-G |
c.2678A>G |
p.Gln893Arg |
Missense |
11/27 |
- |
2 |
13-32911172-AG-A |
c.2680del |
p.Val894* |
Frameshift |
11/27 |
- |
1 |
13-32911172-G-A |
c.2680G>A |
p.Val894Ile |
Missense |
11/27 |
- |
5 |
13-32911175-G-A |
c.2683G>A |
p.Ala895Thr |
Missense |
11/27 |
- |
3 |
13-32911176-GCTAA-G |
c.2684_2687del |
p.Ala895Valfs*8 |
Frameshift |
11/27 |
- |
2 |
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 |
13-32911188-A-T |
c.2696A>T |
p.Asn899Ile |
Missense |
11/27 |
- |
1 |
13-32911190-A-G |
c.2698A>G |
p.Asn900Asp |
Missense |
11/27 |
- |
1 |
13-32911193-C-A |
c.2701C>A |
p.Leu901Ile |
Missense |
11/27 |
- |
1 |
13-32911193-TC-T |
c.2701del |
p.Ala902Leufs*2 |
Frameshift |
11/27 |
- |
6 |
13-32911201-A-T |
c.2709A>T |
p.Leu903Phe |
Missense |
11/27 |
- |
1 |
13-32911201-A-C |
c.2709A>C |
p.Leu903Phe |
Missense |
11/27 |
- |
1 |
13-32911201-A-G |
c.2709A>G |
p.Leu903Leu |
Synonymous |
11/27 |
- |
1 |
13-32911202-G-C |
c.2710G>C |
p.Gly904Arg |
Missense |
11/27 |
- |
1 |
13-32911202-G-A |
c.2710G>A |
p.Gly904Arg |
Missense |
11/27 |
- |
1 |
13-32911208-A-G |
c.2716A>G |
p.Thr906Ala |
Missense |
11/27 |
- |
1 |
13-32911212-A-G |
c.2720A>G |
p.Lys907Arg |
Missense |
11/27 |
- |
1 |
13-32911214-G-A |
c.2722G>A |
p.Glu908Lys |
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 |
- |
2 |
13-32911231-C-T |
c.2739C>T |
p.Asp913Asp |
Synonymous |
11/27 |
- |
1 |
13-32911234-G-T |
c.2742G>T |
p.Leu914Phe |
Missense |
11/27 |
- |
1 |
13-32911234-G-C |
c.2742G>C |
p.Leu914Phe |
Missense |
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 |
- |
2 |
13-32911257-T-G |
c.2765T>G |
p.Phe922Cys |
Missense |
11/27 |
- |
1 |
13-32911260-A-G |
c.2768A>G |
p.Lys923Arg |
Missense |
11/27 |
- |
1 |
13-32911263-A-T |
c.2771A>T |
p.Asn924Ile |
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 |
- |
2 |
13-32911278-TT-T |
c.2786del |
p.Leu929Tyrfs*31 |
Frameshift |
11/27 |
- |
1 |
13-32911278-T-TT |
c.2786dup |
p.Leu929Phefs*7 |
Frameshift |
11/27 |
- |
3 |
13-32911278-T-G |
c.2786T>G |
p.Leu929* |
Nonsense |
11/27 |
- |
1 |
13-32911278-T-C |
c.2786T>C |
p.Leu929Ser |
Missense |
11/27 |
- |
10 |
13-32911284-GA-AC |
c.2792_2793delinsAC |
p.Gly931Asp |
Missense |
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 |
- |
2 |
13-32911290-ACA-A |
c.2798_2799del |
p.Thr933Argfs*2 |
Frameshift |
11/27 |
- |
10 |
13-32911292-AGG-A |
c.2800_2801del |
p.Gly934* |
Frameshift |
11/27 |
- |
1 |
13-32911295-GAT-AAG |
c.2803_2805delinsAAG |
p.Asp935Lys |
Missense |
11/27 |
- |
1 |
13-32911295-G-T |
c.2803G>T |
p.Asp935Tyr |
Missense |
11/27 |
- |
8 |
13-32911295-G-C |
c.2803G>C |
p.Asp935His |
Missense |
11/27 |
- |
12 |
13-32911295-G-A |
c.2803G>A |
p.Asp935Asn |
Missense |
11/27 |
- |
27 |
13-32911297-T-TT |
c.2805dup |
p.Lys936* |
Nonsense |
11/27 |
- |
7 |
13-32911297-ATAAA-A |
c.2805_2808del |
p.Ala938Profs*21 |
Frameshift |
11/27 |
- |
7 |
13-32911300-AA-A |
c.2808del |
p.Lys936Asnfs*24 |
Frameshift |
11/27 |
- |
10 |
13-32911300-AACAA-A |
c.2808_2811del |
p.Ala938Profs*21 |
Frameshift |
11/27 |
- |
90 |
13-32911301-AC-A |
c.2809del |
p.Gln937Lysfs*23 |
Frameshift |
11/27 |
- |
1 |
13-32911301-C-A |
c.2809C>A |
p.Gln937Lys |
Missense |
11/27 |
- |
1 |
13-32911304-AGCAA-A |
c.2812_2815del |
p.Ala938Profs*21 |
Frameshift |
11/27 |
- |
7 |
13-32911305-C-A |
c.2813C>A |
p.Ala938Glu |
Missense |
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-A-G |
c.2820A>G |
p.Gln940Gln |
Synonymous |
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 |
13-32911319-A-G |
c.2827A>G |
p.Ile943Val |
Missense |
11/27 |
- |
1 |
13-32911319-A-T |
c.2827A>T |
p.Ile943Phe |
Missense |
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 |
- |
28 |
13-32911327-AA-A |
c.2835del |
p.Asp946Ilefs*14 |
Frameshift |
11/27 |
- |
4 |
13-32911328-G-C |
c.2836G>C |
p.Asp946His |
Missense |
11/27 |
- |
1 |
13-32911329-A-G |
c.2837A>G |
p.Asp946Gly |
Missense |
11/27 |
- |
1 |
13-32911333-G-T |
c.2841G>T |
p.Leu947Phe |
Missense |
11/27 |
- |
2 |
13-32911334-G-A |
c.2842G>A |
p.Val948Ile |
Missense |
11/27 |
- |
2 |
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 |
- |
3 |
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 |
13-32911347-C-A |
c.2855C>A |
p.Ala952Glu |
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 |
13-32911366-T-G |
c.2874T>G |
p.Ser958Arg |
Missense |
11/27 |
- |
1 |
13-32911366-T-A |
c.2874T>A |
p.Ser958Arg |
Missense |
11/27 |
- |
1 |
13-32911364-A-C |
c.2872A>C |
p.Ser958Arg |
Missense |
11/27 |
- |
1 |
13-32911375-G-A |
c.2883G>A |
p.Gln961Gln |
Synonymous |
11/27 |
- |
9 |
13-32911378-T-C |
c.2886T>C |
p.His962His |
Synonymous |
11/27 |
- |
1 |
13-32911384-A-T |
c.2892A>T |
p.Lys964Asn |
Missense |
11/27 |
- |
2 |
13-32911387-G-C |
c.2895G>C |
p.Met965Ile |
Missense |
11/27 |
- |
2 |
13-32911391-CTA-TTT |
c.2899_2901delinsTTT |
p.Leu967Phe |
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 |
13-32911394-G-C |
c.2902G>C |
p.Gly968Arg |
Missense |
11/27 |
- |
1 |
13-32911397-C-T |
c.2905C>T |
p.Gln969* |
Nonsense |
11/27 |
- |
5 |
13-32911404-T-G |
c.2912T>G |
p.Leu971* |
Nonsense |
11/27 |
- |
1 |
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 |
- |
3 |
13-32911412-G-A |
c.2920G>A |
p.Asp974Asn |
Missense |
11/27 |
- |
1 |
13-32911413-A-T |
c.2921A>T |
p.Asp974Val |
Missense |
11/27 |
- |
1 |
13-32911416-T-G |
c.2924T>G |
p.Ile975Ser |
Missense |
11/27 |
- |
1 |
13-32911418-T-A |
c.2926T>A |
p.Ser976Thr |
Missense |
11/27 |
- |
1 |
13-32911418-TC-AT |
c.2926_2927delinsAT |
p.Ser976Ile |
Missense |
11/27 |
- |
3 |
13-32911419-C-T |
c.2927C>T |
p.Ser976Phe |
Missense |
11/27 |
- |
3 |
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 |
- |
4 |
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 |
13-32911438-A-T |
c.2946A>T |
p.Ile982Ile |
Synonymous |
11/27 |
- |
1 |
13-32911438-A-C |
c.2946A>C |
p.Ile982Ile |
Synonymous |
11/27 |
- |
3 |
13-32911438-A-G |
c.2946A>G |
p.Ile982Met |
Missense |
11/27 |
- |
3 |
13-32911442-G-T |
c.2950G>T |
p.Glu984* |
Nonsense |
11/27 |
- |
1 |
13-32911444-A-G |
c.2952A>G |
p.Glu984Glu |
Synonymous |
11/27 |
- |
1 |
13-32911446-AAAAA-A |
c.2954_2957del |
p.Lys985Ilefs*5 |
Frameshift |
11/27 |
- |
1 |
13-32911447-A-AT |
c.2955_2956insT |
p.Asn986* |
Nonsense |
11/27 |
- |
1 |
13-32911449-A-AA |
c.2957dup |
p.Asn986Lysfs*2 |
Frameshift |
11/27 |
- |
5 |
13-32911449-A-AG |
c.2957_2958insG |
p.Asn986Lysfs*2 |
Frameshift |
11/27 |
- |
4 |
13-32911449-A-T |
c.2957A>T |
p.Asn986Ile |
Missense |
11/27 |
- |
1 |
13-32911449-A-G |
c.2957A>G |
p.Asn986Ser |
Missense |
11/27 |
- |
3 |
13-32911449-AA-A |
c.2957del |
p.Asn986Ilefs*5 |
Frameshift |
11/27 |
- |
3 |
13-32911451-TAAT-T |
c.2959_2961del |
p.Asn987del |
InFrameDeletion |
11/27 |
- |
1 |
13-32911452-A-T |
c.2960A>T |
p.Asn987Ile |
Missense |
11/27 |
- |
7 |
13-32911452-A-G |
c.2960A>G |
p.Asn987Ser |
Missense |
11/27 |
- |
2 |
13-32911454-G-T |
c.2962G>T |
p.Asp988Tyr |
Missense |
11/27 |
- |
1 |
13-32911455-A-C |
c.2963A>C |
p.Asp988Ala |
Missense |
11/27 |
- |
2 |
13-32911463-A-G |
c.2971A>G |
p.Asn991Asp |
Missense |
11/27 |
- |
102 |
13-32911464-A-G |
c.2972A>G |
p.Asn991Ser |
Missense |
11/27 |
- |
1 |
13-32911471-G-A |
c.2979G>A |
p.Trp993* |
Nonsense |
11/27 |
- |
1 |
13-32911481-T-TAA |
c.2989_2990insAA |
p.Leu997* |
Nonsense |
11/27 |
- |
1 |
13-32911481-T-G |
c.2989T>G |
p.Leu997Val |
Missense |
11/27 |
- |
1 |
13-32911482-T-G |
c.2990T>G |
p.Leu997* |
Nonsense |
11/27 |
- |
4 |
13-32911483-TAGGT-T |
c.2991_2994del |
p.Leu997Phefs*45 |
Frameshift |
11/27 |
- |
1 |
13-32911484-AGGTC-A |
c.2992_2995del |
p.Gly998Glnfs*44 |
Frameshift |
11/27 |
- |
1 |
13-32911485-GT-AG |
c.2993_2994delinsAG |
p.Gly998Glu |
Missense |
11/27 |
- |
1 |
13-32911485-G-A |
c.2993G>A |
p.Gly998Asp |
Missense |
11/27 |
- |
2 |
13-32911488-C-T |
c.2996C>T |
p.Pro999Leu |
Missense |
11/27 |
- |
1 |
13-32911490-A-C |
c.2998A>C |
p.Ile1000Leu |
Missense |
11/27 |
- |
1 |
13-32911493-TT-T |
c.3001del |
p.Ser1001Glnfs*42 |
Frameshift |
11/27 |
- |
1 |
13-32911494-C-G |
c.3002C>G |
p.Ser1001* |
Nonsense |
11/27 |
- |
2 |
13-32911494-C-A |
c.3002C>A |
p.Ser1001* |
Nonsense |
11/27 |
- |
2 |
13-32911499-C-G |
c.3007C>G |
p.His1003Asp |
Missense |
11/27 |
- |
2 |
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 |
- |
4 |
13-32911514-AG-GC |
c.3022_3023delinsGC |
p.Ser1008Ala |
Missense |
11/27 |
- |
1 |
13-32911516-C-A |
c.3024C>A |
p.Ser1008Arg |
Missense |
11/27 |
- |
1 |
13-32911516-C-G |
c.3024C>G |
p.Ser1008Arg |
Missense |
11/27 |
- |
1 |
13-32911514-A-C |
c.3022A>C |
p.Ser1008Arg |
Missense |
11/27 |
- |
1 |
13-32911521-G-A |
c.3029G>A |
p.Arg1010Lys |
Missense |
11/27 |
- |
1 |
13-32911522-GAACA-G |
c.3030_3033del |
p.Thr1011Leufs*31 |
Frameshift |
11/27 |
- |
1 |
13-32911523-A-G |
c.3031A>G |
p.Thr1011Ala |
Missense |
11/27 |
- |
2 |
13-32911524-C-G |
c.3032C>G |
p.Thr1011Arg |
Missense |
11/27 |
- |
7 |
13-32911524-C-T |
c.3032C>T |
p.Thr1011Ile |
Missense |
11/27 |
- |
3 |
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 |
13-32911530-C-G |
c.3038C>G |
p.Ser1013* |
Nonsense |
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 |
13-32911535-A-G |
c.3043A>G |
p.Lys1015Glu |
Missense |
11/27 |
- |
1 |
13-32911538-G-T |
c.3046G>T |
p.Glu1016* |
Nonsense |
11/27 |
- |
1 |
13-32911538-G-A |
c.3046G>A |
p.Glu1016Lys |
Missense |
11/27 |
- |
1 |
13-32911542-T-C |
c.3050T>C |
p.Ile1017Thr |
Missense |
11/27 |
- |
1 |
13-32911542-T-G |
c.3050T>G |
p.Ile1017Ser |
Missense |
11/27 |
- |
1 |
13-32911544-A-C |
c.3052A>C |
p.Lys1018Gln |
Missense |
11/27 |
- |
1 |
13-32911547-C-G |
c.3055C>G |
p.Leu1019Val |
Missense |
11/27 |
- |
14 |
13-32911548-T-C |
c.3056T>C |
p.Leu1019Pro |
Missense |
11/27 |
- |
1 |
13-32911550-T-C |
c.3058T>C |
p.Ser1020Pro |
Missense |
11/27 |
- |
2 |
13-32911551-TCT-T |
c.3059_3060del |
p.Ser1020* |
Frameshift |
11/27 |
- |
1 |
13-32911553-G-A |
c.3061G>A |
p.Glu1021Lys |
Missense |
11/27 |
- |
2 |
13-32911554-A-G |
c.3062A>G |
p.Glu1021Gly |
Missense |
11/27 |
- |
1 |
13-32911560-A-AA |
c.3068dup |
p.Asn1023Lysfs*3 |
Frameshift |
11/27 |
- |
3 |
13-32911560-AA-A |
c.3068del |
p.Asn1023Thrfs*20 |
Frameshift |
11/27 |
- |
1 |
13-32911561-ACATTAA-A |
c.3069_3074del |
p.Asn1023_Ile1024del |
InFrameDeletion |
11/27 |
- |
1 |
13-32911562-A-G |
c.3070A>G |
p.Ile1024Val |
Missense |
11/27 |
- |
1 |
13-32911565-A-G |
c.3073A>G |
p.Lys1025Glu |
Missense |
11/27 |
- |
2 |
13-32911565-A-T |
c.3073A>T |
p.Lys1025* |
Nonsense |
11/27 |
- |
1 |
13-32911567-G-T |
c.3075G>T |
p.Lys1025Asn |
Missense |
11/27 |
- |
1 |
13-32911567-GA-TT |
c.3075_3076delinsTT |
p.Lys1025_Lys1026delinsAsn* |
MultiAAMissense |
11/27 |
- |
1 |
13-32911568-A-T |
c.3076A>T |
p.Lys1026* |
Nonsense |
11/27 |
- |
2 |
13-32911571-A-G |
c.3079A>G |
p.Ser1027Gly |
Missense |
11/27 |
- |
1 |
13-32911578-AT-A |
c.3086del |
p.Met1029Serfs*14 |
Frameshift |
11/27 |
- |
3 |
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 |
13-32911593-T-C |
c.3101T>C |
p.Ile1034Thr |
Missense |
11/27 |
- |
1 |
13-32911593-T-G |
c.3101T>G |
p.Ile1034Ser |
Missense |
11/27 |
- |
1 |
13-32911595-G-T |
c.3103G>T |
p.Glu1035* |
Nonsense |
11/27 |
- |
3 |
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 |
- |
38 |
13-32911601-C-A |
c.3109C>A |
p.Gln1037Lys |
Missense |
11/27 |
- |
3 |
13-32911603-A-G |
c.3111A>G |
p.Gln1037Gln |
Synonymous |
11/27 |
- |
1 |
13-32911605-A-G |
c.3113A>G |
p.Tyr1038Cys |
Missense |
11/27 |
- |
6 |
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 |
- |
2 |
13-32911648-A-C |
c.3156A>C |
p.Ala1052Ala |
Synonymous |
11/27 |
- |
1 |
13-32911650-T-G |
c.3158T>G |
p.Leu1053* |
Nonsense |
11/27 |
- |
9 |
13-32911652-AGATA-A |
c.3160_3163del |
p.Asp1054Ilefs*5 |
Frameshift |
11/27 |
- |
1 |
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 |
- |
2 |
13-32911658-C-A |
c.3166C>A |
p.Gln1056Lys |
Missense |
11/27 |
- |
2 |
13-32911658-C-T |
c.3166C>T |
p.Gln1056* |
Nonsense |
11/27 |
- |
6 |
13-32911658-TC-T |
c.3166del |
p.Gln1056Lysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911659-CAAAA-C |
c.3167_3170del |
p.Gln1056Argfs*3 |
Frameshift |
11/27 |
- |
3 |
13-32911662-A-G |
c.3170A>G |
p.Lys1057Arg |
Missense |
11/27 |
- |
2 |
13-32911662-AAGAAA-A |
c.3170_3174del |
p.Lys1057Thrfs*8 |
Frameshift |
11/27 |
- |
10 |
13-32911663-G-A |
c.3171G>A |
p.Lys1057Lys |
Synonymous |
11/27 |
- |
1 |
13-32911664-A-T |
c.3172A>T |
p.Lys1058* |
Nonsense |
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-A-G |
c.3182A>G |
p.Lys1061Arg |
Missense |
11/27 |
- |
1 |
13-32911674-AA-A |
c.3182del |
p.Lys1061Serfs*16 |
Frameshift |
11/27 |
- |
2 |
13-32911676-C-G |
c.3184C>G |
p.Pro1062Ala |
Missense |
11/27 |
- |
1 |
13-32911676-C-T |
c.3184C>T |
p.Pro1062Ser |
Missense |
11/27 |
- |
1 |
13-32911678-T-C |
c.3186T>C |
p.Pro1062Pro |
Synonymous |
11/27 |
- |
1 |
13-32911679-C-A |
c.3187C>A |
p.Gln1063Lys |
Missense |
11/27 |
- |
1 |
13-32911679-C-T |
c.3187C>T |
p.Gln1063* |
Nonsense |
11/27 |
- |
2 |
13-32911680-A-T |
c.3188A>T |
p.Gln1063Leu |
Missense |
11/27 |
- |
1 |
13-32911681-AGTCA-A |
c.3189_3192del |
p.Ser1064Leufs*12 |
Frameshift |
11/27 |
- |
5 |
13-32911683-C-A |
c.3191C>A |
p.Ser1064* |
Nonsense |
11/27 |
- |
1 |
13-32911683-C-G |
c.3191C>G |
p.Ser1064* |
Nonsense |
11/27 |
- |
1 |
13-32911686-T-C |
c.3194T>C |
p.Ile1065Thr |
Missense |
11/27 |
- |
1 |
13-32911687-TTAAT-T |
c.3195_3198del |
p.Asn1066Leufs*10 |
Frameshift |
11/27 |
- |
14 |
13-32911689-A-AA |
c.3197dup |
p.Asn1066Lysfs*10 |
Frameshift |
11/27 |
- |
2 |
13-32911691-A-G |
c.3199A>G |
p.Thr1067Ala |
Missense |
11/27 |
- |
1 |
13-32911691-TA-T |
c.3199del |
p.Thr1067Leufs*10 |
Frameshift |
11/27 |
- |
2 |
13-32911694-TG-T |
c.3202del |
p.Val1068Tyrfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32911698-C-T |
c.3206C>T |
p.Ser1069Phe |
Missense |
11/27 |
- |
1 |
13-32911700-G-T |
c.3208G>T |
p.Ala1070Ser |
Missense |
11/27 |
- |
1 |
13-32911703-C-T |
c.3211C>T |
p.His1071Tyr |
Missense |
11/27 |
- |
1 |
13-32911708-A-G |
c.3216A>G |
p.Leu1072Leu |
Synonymous |
11/27 |
- |
1 |
13-32911709-C-T |
c.3217C>T |
p.Gln1073* |
Nonsense |
11/27 |
- |
1 |
13-32911710-A-G |
c.3218A>G |
p.Gln1073Arg |
Missense |
11/27 |
- |
4 |
13-32911711-G-T |
c.3219G>T |
p.Gln1073His |
Missense |
11/27 |
- |
1 |
13-32911711-G-C |
c.3219G>C |
p.Gln1073His |
Missense |
11/27 |
- |
1 |
13-32911712-A-T |
c.3220A>T |
p.Ser1074Cys |
Missense |
11/27 |
- |
3 |
13-32911712-A-G |
c.3220A>G |
p.Ser1074Gly |
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 |
13-32911730-G-A |
c.3238G>A |
p.Asp1080Asn |
Missense |
11/27 |
- |
1 |
13-32911731-A-C |
c.3239A>C |
p.Asp1080Ala |
Missense |
11/27 |
- |
1 |
13-32911737-A-G |
c.3245A>G |
p.Lys1082Arg |
Missense |
11/27 |
- |
2 |
13-32911739-A-G |
c.3247A>G |
p.Asn1083Asp |
Missense |
11/27 |
- |
1 |
13-32911740-AA-A |
c.3248del |
p.Asn1083Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32911740-A-G |
c.3248A>G |
p.Asn1083Ser |
Missense |
11/27 |
- |
1 |
13-32911744-T-C |
c.3252T>C |
p.Ser1084Ser |
Synonymous |
11/27 |
- |
1 |
13-32911748-A-AA |
c.3256dup |
p.Ile1086Asnfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32911748-A-G |
c.3256A>G |
p.Ile1086Val |
Missense |
11/27 |
- |
3 |
13-32911748-A-T |
c.3256A>T |
p.Ile1086Leu |
Missense |
11/27 |
- |
1 |
13-32911749-ATA-A |
c.3257_3258del |
p.Ile1086Asnfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32911752-C-G |
c.3260C>G |
p.Thr1087Ser |
Missense |
11/27 |
- |
1 |
13-32911752-C-T |
c.3260C>T |
p.Thr1087Ile |
Missense |
11/27 |
- |
1 |
13-32911754-C-G |
c.3262C>G |
p.Pro1088Ala |
Missense |
11/27 |
- |
1 |
13-32911754-C-T |
c.3262C>T |
p.Pro1088Ser |
Missense |
11/27 |
- |
5 |
13-32911755-CC-C |
c.3263del |
p.Pro1088Leufs*16 |
Frameshift |
11/27 |
- |
2 |
13-32911755-C-CC |
c.3263dup |
p.Gln1089Serfs*10 |
Frameshift |
11/27 |
- |
3 |
13-32911756-T-TTT |
c.3264_3265insTT |
p.Gln1089Phefs*16 |
Frameshift |
11/27 |
- |
1 |
13-32911756-T-C |
c.3264T>C |
p.Pro1088Pro |
Synonymous |
11/27 |
- |
7 |
13-32911756-T-TT |
c.3264dup |
p.Gln1089Serfs*10 |
Frameshift |
11/27 |
- |
21 |
13-32911757-C-T |
c.3265C>T |
p.Gln1089* |
Nonsense |
11/27 |
- |
6 |
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 |
13-32911764-T-A |
c.3272T>A |
p.Leu1091* |
Nonsense |
11/27 |
- |
1 |
13-32911773-A-T |
c.3281A>T |
p.Lys1094Met |
Missense |
11/27 |
- |
1 |
13-32911775-C-T |
c.3283C>T |
p.Gln1095* |
Nonsense |
11/27 |
- |
1 |
13-32911778-G-A |
c.3286G>A |
p.Asp1096Asn |
Missense |
11/27 |
- |
1 |
13-32911778-GG-G |
c.3286del |
p.Asp1096Ilefs*8 |
Frameshift |
11/27 |
- |
2 |
13-32911780-T-G |
c.3288T>G |
p.Asp1096Glu |
Missense |
11/27 |
- |
1 |
13-32911780-T-A |
c.3288T>A |
p.Asp1096Glu |
Missense |
11/27 |
- |
1 |
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 |
13-32911788-TC-T |
c.3296del |
p.Ser1099* |
Frameshift |
11/27 |
- |
1 |
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 |
- |
2 |
13-32911794-A-G |
c.3302A>G |
p.His1101Arg |
Missense |
11/27 |
- |
1 |
13-32911796-A-C |
c.3304A>C |
p.Asn1102His |
Missense |
11/27 |
- |
1 |
13-32911796-A-T |
c.3304A>T |
p.Asn1102Tyr |
Missense |
11/27 |
- |
5 |
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-A |
c.3318C>A |
p.Ser1106Arg |
Missense |
11/27 |
- |
1 |
13-32911810-C-G |
c.3318C>G |
p.Ser1106Arg |
Missense |
11/27 |
- |
2 |
13-32911811-C-T |
c.3319C>T |
p.Gln1107* |
Nonsense |
11/27 |
- |
1 |
13-32911811-C-G |
c.3319C>G |
p.Gln1107Glu |
Missense |
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 |
13-32911815-AA-A |
c.3323del |
p.Lys1108Argfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32911818-C-T |
c.3326C>T |
p.Ala1109Val |
Missense |
11/27 |
- |
3 |
13-32911820-G-A |
c.3328G>A |
p.Glu1110Lys |
Missense |
11/27 |
- |
1 |
13-32911821-A-C |
c.3329A>C |
p.Glu1110Ala |
Missense |
11/27 |
- |
1 |
13-32911821-A-T |
c.3329A>T |
p.Glu1110Val |
Missense |
11/27 |
- |
1 |
13-32911824-T-C |
c.3332T>C |
p.Ile1111Thr |
Missense |
11/27 |
- |
1 |
13-32911829-G-T |
c.3337G>T |
p.Glu1113* |
Nonsense |
11/27 |
- |
1 |
13-32911831-AA-A |
c.3339del |
p.Glu1113Aspfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32911835-TT-T |
c.3343del |
p.Ser1115Leufs*4 |
Frameshift |
11/27 |
- |
2 |
13-32911837-CT-C |
c.3345del |
p.Thr1116Leufs*3 |
Frameshift |
11/27 |
- |
2 |
13-32911841-A-G |
c.3349A>G |
p.Ile1117Val |
Missense |
11/27 |
- |
4 |
13-32911844-T-A |
c.3352T>A |
p.Leu1118Ile |
Missense |
11/27 |
- |
1 |
13-32911844-ATTAGA-A |
c.3352_3356del |
p.Leu1118Argfs*7 |
Frameshift |
11/27 |
- |
1 |
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 |
13-32911847-AGA-A |
c.3355_3356del |
p.Glu1119Argfs*7 |
Frameshift |
11/27 |
- |
1 |
13-32911850-AG-A |
c.3358del |
p.Glu1120Asnfs*30 |
Frameshift |
11/27 |
- |
1 |
13-32911851-A-T |
c.3359A>T |
p.Glu1120Val |
Missense |
11/27 |
- |
1 |
13-32911854-C-G |
c.3362C>G |
p.Ser1121* |
Nonsense |
11/27 |
- |
4 |
13-32911857-GG-G |
c.3365del |
p.Gly1122Glufs*28 |
Frameshift |
11/27 |
- |
1 |
13-32911859-AG-TA |
c.3367_3368delinsTA |
p.Ser1123Tyr |
Missense |
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 |
13-32911882-TTAGA-T |
c.3390_3393del |
p.Phe1130Leufs*19 |
Frameshift |
11/27 |
- |
1 |
13-32911883-A-G |
c.3391A>G |
p.Arg1131Gly |
Missense |
11/27 |
- |
1 |
13-32911887-A-G |
c.3395A>G |
p.Lys1132Arg |
Missense |
11/27 |
- |
2 |
13-32911888-A-C |
c.3396A>C |
p.Lys1132Asn |
Missense |
11/27 |
- |
36 |
13-32911888-A-G |
c.3396A>G |
p.Lys1132Lys |
Synonymous |
11/27 |
- |
74 |
13-32911890-CC-C |
c.3398del |
p.Pro1133Glnfs*17 |
Frameshift |
11/27 |
- |
1 |
13-32911893-AG-A |
c.3401del |
p.Ser1134Thrfs*16 |
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 |
13-32911907-A-G |
c.3415A>G |
p.Lys1139Glu |
Missense |
11/27 |
- |
1 |
13-32911907-A-C |
c.3415A>C |
p.Lys1139Gln |
Missense |
11/27 |
- |
1 |
13-32911909-G-A |
c.3417G>A |
p.Lys1139Lys |
Synonymous |
11/27 |
- |
2 |
13-32911910-A-G |
c.3418A>G |
p.Ser1140Gly |
Missense |
11/27 |
- |
1 |
13-32911912-T-C |
c.3420T>C |
p.Ser1140Ser |
Synonymous |
11/27 |
- |
2 |
13-32911912-T-TT |
c.3420dup |
p.Thr1141Tyrfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32911917-T-C |
c.3425T>C |
p.Phe1142Ser |
Missense |
11/27 |
- |
1 |
13-32911927-T-C |
c.3435T>C |
p.Pro1145Pro |
Synonymous |
11/27 |
- |
1 |
13-32911932-A-T |
c.3440A>T |
p.Asn1147Ile |
Missense |
11/27 |
- |
1 |
13-32911932-A-AA |
c.3440dup |
p.Asn1147Lysfs*11 |
Frameshift |
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 |
- |
10 |
13-32911938-T-C |
c.3446T>C |
p.Met1149Thr |
Missense |
11/27 |
- |
1 |
13-32911940-A-T |
c.3448A>T |
p.Thr1150Ser |
Missense |
11/27 |
- |
1 |
13-32911943-A-T |
c.3451A>T |
p.Ile1151Phe |
Missense |
11/27 |
- |
1 |
13-32911947-T-G |
c.3455T>G |
p.Leu1152* |
Nonsense |
11/27 |
- |
2 |
13-32911950-A-G |
c.3458A>G |
p.Lys1153Arg |
Missense |
11/27 |
- |
1 |
13-32911952-GA-G |
c.3460del |
p.Thr1154Profs*14 |
Frameshift |
11/27 |
- |
1 |
13-32911952-A-T |
c.3460A>T |
p.Thr1154Ser |
Missense |
11/27 |
- |
1 |
13-32911953-C-G |
c.3461C>G |
p.Thr1154Ser |
Missense |
11/27 |
- |
1 |
13-32911954-C-G |
c.3462C>G |
p.Thr1154Thr |
Synonymous |
11/27 |
- |
5 |
13-32911954-C-T |
c.3462C>T |
p.Thr1154Thr |
Synonymous |
11/27 |
- |
4 |
13-32911965-A-G |
c.3473A>G |
p.Glu1158Gly |
Missense |
11/27 |
- |
1 |
13-32911967-T-G |
c.3475T>G |
p.Cys1159Gly |
Missense |
11/27 |
- |
1 |
13-32911967-T-A |
c.3475T>A |
p.Cys1159Ser |
Missense |
11/27 |
- |
1 |
13-32911968-TG-T |
c.3476del |
p.Cys1159Serfs*9 |
Frameshift |
11/27 |
- |
1 |
13-32911971-G-A |
c.3479G>A |
p.Arg1160Lys |
Missense |
11/27 |
- |
4 |
13-32911973-AGATGCTGATCT-A |
c.3481_3491del |
p.Asp1161Serfs*19 |
Frameshift |
11/27 |
- |
3 |
13-32911976-G-A |
c.3484G>A |
p.Ala1162Thr |
Missense |
11/27 |
- |
1 |
13-32911979-TG-T |
c.3487del |
p.Asp1163Ilefs*5 |
Frameshift |
11/27 |
- |
2 |
13-32911979-TGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATT-T |
c.3487_3545del |
p.Asp1163* |
Frameshift |
11/27 |
- |
1 |
13-32911981-T-A |
c.3489T>A |
p.Asp1163Glu |
Missense |
11/27 |
- |
1 |
13-32911981-T-G |
c.3489T>G |
p.Asp1163Glu |
Missense |
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-C |
c.3504G>C |
p.Met1168Ile |
Missense |
11/27 |
- |
2 |
13-32911996-G-T |
c.3504G>T |
p.Met1168Ile |
Missense |
11/27 |
- |
2 |
13-32911998-A-G |
c.3506A>G |
p.Asn1169Ser |
Missense |
11/27 |
- |
1 |
13-32912000-G-C |
c.3508G>C |
p.Ala1170Pro |
Missense |
11/27 |
- |
2 |
13-32912001-C-T |
c.3509C>T |
p.Ala1170Val |
Missense |
11/27 |
- |
3 |
13-32912004-C-T |
c.3512C>T |
p.Pro1171Leu |
Missense |
11/27 |
- |
1 |
13-32912005-A-T |
c.3513A>T |
p.Pro1171Pro |
Synonymous |
11/27 |
- |
1 |
13-32912007-C-T |
c.3515C>T |
p.Ser1172Leu |
Missense |
11/27 |
- |
16 |
13-32912007-C-G |
c.3515C>G |
p.Ser1172Trp |
Missense |
11/27 |
- |
4 |
13-32912007-C-A |
c.3515C>A |
p.Ser1172* |
Nonsense |
11/27 |
- |
3 |
13-32912008-G-T |
c.3516G>T |
p.Ser1172Ser |
Synonymous |
11/27 |
- |
9 |
13-32912008-G-A |
c.3516G>A |
p.Ser1172Ser |
Synonymous |
11/27 |
- |
11 |
13-32912011-T-G |
c.3519T>G |
p.Ile1173Met |
Missense |
11/27 |
- |
1 |
13-32912013-G-A |
c.3521G>A |
p.Gly1174Asp |
Missense |
11/27 |
- |
1 |
13-32912018-G-GG |
c.3526dup |
p.Val1176Glyfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32912030-A-C |
c.3538A>C |
p.Lys1180Gln |
Missense |
11/27 |
- |
1 |
13-32912031-A-G |
c.3539A>G |
p.Lys1180Arg |
Missense |
11/27 |
- |
1 |
13-32912032-G-C |
c.3540G>C |
p.Lys1180Asn |
Missense |
11/27 |
- |
1 |
13-32912033-C-T |
c.3541C>T |
p.Gln1181* |
Nonsense |
11/27 |
- |
1 |
13-32912036-T-TAA |
c.3544_3545insAA |
p.Phe1182* |
Nonsense |
11/27 |
- |
1 |
13-32912037-TTT-T |
c.3545_3546del |
p.Phe1182* |
Frameshift |
11/27 |
- |
13 |
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 |
- |
8 |
13-32912043-G-C |
c.3551G>C |
p.Gly1184Ala |
Missense |
11/27 |
- |
2 |
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 |
- |
2 |
13-32912056-T-G |
c.3564T>G |
p.Ile1188Met |
Missense |
11/27 |
- |
1 |
13-32912060-C-T |
c.3568C>T |
p.Arg1190Trp |
Missense |
11/27 |
- |
10 |
13-32912061-G-A |
c.3569G>A |
p.Arg1190Gln |
Missense |
11/27 |
- |
3 |
13-32912061-G-T |
c.3569G>T |
p.Arg1190Leu |
Missense |
11/27 |
- |
1 |
13-32912062-GG-G |
c.3570del |
p.Lys1191Serfs*6 |
Frameshift |
11/27 |
- |
2 |
13-32912067-T-G |
c.3575T>G |
p.Phe1192Cys |
Missense |
11/27 |
- |
5 |
13-32912073-G-A |
c.3581G>A |
p.Gly1194Asp |
Missense |
11/27 |
- |
7 |
13-32912075-CC-C |
c.3583del |
p.Leu1195Cysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912075-C-A |
c.3583C>A |
p.Leu1195Met |
Missense |
11/27 |
- |
1 |
13-32912079-T-A |
c.3587T>A |
p.Leu1196* |
Nonsense |
11/27 |
- |
1 |
13-32912081-A-G |
c.3589A>G |
p.Lys1197Glu |
Missense |
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 |
- |
15 |
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 |
13-32912108-G-T |
c.3616G>T |
p.Gly1206Cys |
Missense |
11/27 |
- |
1 |
13-32912109-G-C |
c.3617G>C |
p.Gly1206Ala |
Missense |
11/27 |
- |
1 |
13-32912109-G-A |
c.3617G>A |
p.Gly1206Asp |
Missense |
11/27 |
- |
1 |
13-32912113-T-G |
c.3621T>G |
p.Tyr1207* |
Nonsense |
11/27 |
- |
1 |
13-32912113-T-A |
c.3621T>A |
p.Tyr1207* |
Nonsense |
11/27 |
- |
1 |
13-32912116-A-G |
c.3624A>G |
p.Leu1208Leu |
Synonymous |
11/27 |
- |
2 |
13-32912119-A-AA |
c.3627dup |
p.Asp1210Argfs*2 |
Frameshift |
11/27 |
- |
8 |
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 |
13-32912133-T-TT |
c.3641dup |
p.Phe1216Valfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912137-GT-TAAAAAG |
c.3645_3646delinsTAAAAAG |
p.Phe1216Lysfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32912143-G-A |
c.3651G>A |
p.Arg1217Arg |
Synonymous |
11/27 |
- |
1 |
13-32912147-T-C |
c.3655T>C |
p.Phe1219Leu |
Missense |
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 |
13-32912150-T-C |
c.3658T>C |
p.Tyr1220His |
Missense |
11/27 |
- |
2 |
13-32912153-T-C |
c.3661T>C |
p.Ser1221Pro |
Missense |
11/27 |
- |
1 |
13-32912153-T-G |
c.3661T>G |
p.Ser1221Ala |
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 |
- |
8 |
13-32912174-A-G |
c.3682A>G |
p.Asn1228Asp |
Missense |
11/27 |
- |
5 |
13-32912174-GAATG-G |
c.3682_3685del |
p.Asn1228Phefs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912175-A-G |
c.3683A>G |
p.Asn1228Ser |
Missense |
11/27 |
- |
1 |
13-32912177-TG-T |
c.3685del |
p.Val1229Phefs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912181-C-T |
c.3689C>T |
p.Ser1230Phe |
Missense |
11/27 |
- |
1 |
13-32912181-TC-T |
c.3689del |
p.Ser1230Leufs*9 |
Frameshift |
11/27 |
- |
3 |
13-32912185-T-C |
c.3693T>C |
p.Thr1231Thr |
Synonymous |
11/27 |
- |
2 |
13-32912189-G-A |
c.3697G>A |
p.Ala1233Thr |
Missense |
11/27 |
- |
2 |
13-32912190-C-T |
c.3698C>T |
p.Ala1233Val |
Missense |
11/27 |
- |
2 |
13-32912192-TCTGCA-T |
c.3700_3704del |
p.Leu1234Lysfs*7 |
Frameshift |
11/27 |
- |
3 |
13-32912195-C-T |
c.3703C>T |
p.Gln1235* |
Nonsense |
11/27 |
- |
1 |
13-32912200-A-AA |
c.3708dup |
p.Ala1237Serfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32912208-A-C |
c.3716A>C |
p.Lys1239Thr |
Missense |
11/27 |
- |
1 |
13-32912209-AA-A |
c.3717del |
p.Lys1239Asnfs*20 |
Frameshift |
11/27 |
- |
2 |
13-32912209-A-G |
c.3717A>G |
p.Lys1239Lys |
Synonymous |
11/27 |
- |
1 |
13-32912210-C-T |
c.3718C>T |
p.Leu1240Leu |
Synonymous |
11/27 |
- |
1 |
13-32912212-G-A |
c.3720G>A |
p.Leu1240Leu |
Synonymous |
11/27 |
- |
1 |
13-32912212-TGTTT-T |
c.3720_3723del |
p.Phe1241Valfs*17 |
Frameshift |
11/27 |
- |
2 |
13-32912212-TGT-T |
c.3720_3721del |
p.Phe1241* |
Frameshift |
11/27 |
- |
2 |
13-32912215-T-G |
c.3723T>G |
p.Phe1241Leu |
Missense |
11/27 |
- |
3 |
13-32912214-T-G |
c.3722T>G |
p.Phe1241Cys |
Missense |
11/27 |
- |
1 |
13-32912215-TT-T |
c.3723del |
p.Phe1241Leufs*18 |
Frameshift |
11/27 |
- |
3 |
13-32912217-G-A |
c.3725G>A |
p.Ser1242Asn |
Missense |
11/27 |
- |
1 |
13-32912231-TA-T |
c.3739del |
p.Ile1247Leufs*12 |
Frameshift |
11/27 |
- |
1 |
13-32912236-GTGAG-G |
c.3744_3747del |
p.Ser1248Argfs*10 |
Frameshift |
11/27 |
- |
14 |
13-32912240-G-T |
c.3748G>T |
p.Glu1250* |
Nonsense |
11/27 |
- |
5 |
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-AG-A |
c.3760del |
p.Glu1254Argfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32912252-G-T |
c.3760G>T |
p.Glu1254* |
Nonsense |
11/27 |
- |
1 |
13-32912253-A-G |
c.3761A>G |
p.Glu1254Gly |
Missense |
11/27 |
- |
1 |
13-32912262-C-T |
c.3770C>T |
p.Pro1257Leu |
Missense |
11/27 |
- |
1 |
13-32912272-TAT-T |
c.3780_3781del |
p.Leu1260Phefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912274-C-G |
c.3782C>G |
p.Ser1261Cys |
Missense |
11/27 |
- |
2 |
13-32912277-C-A |
c.3785C>A |
p.Ser1262* |
Nonsense |
11/27 |
- |
2 |
13-32912285-T-A |
c.3793T>A |
p.Cys1265Ser |
Missense |
11/27 |
- |
3 |
13-32912286-G-T |
c.3794G>T |
p.Cys1265Phe |
Missense |
11/27 |
- |
1 |
13-32912299-T-G |
c.3807T>G |
p.Val1269Val |
Synonymous |
11/27 |
- |
61 |
13-32912299-T-C |
c.3807T>C |
p.Val1269Val |
Synonymous |
11/27 |
- |
73 |
13-32912306-AA-A |
c.3814del |
p.Met1272Cysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912306-A-G |
c.3814A>G |
p.Met1272Val |
Missense |
11/27 |
- |
4 |
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 |
13-32912316-ATAGA-A |
c.3824_3827del |
p.Ile1275Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
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 |
13-32912322-A-G |
c.3830A>G |
p.Asn1277Ser |
Missense |
11/27 |
- |
1 |
13-32912326-ATA-A |
c.3834_3835del |
p.His1278Glnfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912326-T-C |
c.3834T>C |
p.His1278His |
Synonymous |
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 |
- |
5 |
13-32912337-ACT-A |
c.3845_3846del |
p.Thr1282Serfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912339-TGT-T |
c.3847_3848del |
p.Val1283Lysfs*2 |
Frameshift |
11/27 |
- |
49 |
13-32912340-T-C |
c.3848T>C |
p.Val1283Ala |
Missense |
11/27 |
- |
2 |
13-32912347-A-G |
c.3855A>G |
p.Glu1285Glu |
Synonymous |
11/27 |
- |
1 |
13-32912350-A-AT |
c.3858_3859insT |
p.Asn1287* |
Nonsense |
11/27 |
- |
1 |
13-32912350-AAAA-A |
c.3858_3860del |
p.Lys1286del |
InFrameDeletion |
11/27 |
- |
2 |
13-32912352-AA-A |
c.3860del |
p.Asn1287Ilefs*6 |
Frameshift |
11/27 |
- |
18 |
13-32912352-A-AA |
c.3860dup |
p.Asn1287Lysfs*2 |
Frameshift |
11/27 |
- |
3 |
13-32912352-AATAA-A |
c.3860_3863del |
p.Asn1287Ilefs*5 |
Frameshift |
11/27 |
- |
3 |
13-32912356-ATAA-A |
c.3864_3866del |
p.Asn1288del |
InFrameDeletion |
11/27 |
- |
2 |
13-32912357-TAAAT-T |
c.3865_3868del |
p.Lys1289Alafs*3 |
Frameshift |
11/27 |
- |
4 |
13-32912359-A-C |
c.3867A>C |
p.Lys1289Asn |
Missense |
11/27 |
- |
1 |
13-32912359-A-T |
c.3867A>T |
p.Lys1289Asn |
Missense |
11/27 |
- |
1 |
13-32912361-G-T |
c.3869G>T |
p.Cys1290Phe |
Missense |
11/27 |
- |
2 |
13-32912361-G-A |
c.3869G>A |
p.Cys1290Tyr |
Missense |
11/27 |
- |
12 |
13-32912363-C-T |
c.3871C>T |
p.Gln1291* |
Nonsense |
11/27 |
- |
3 |
13-32912365-AA-A |
c.3873del |
p.Gln1291Hisfs*2 |
Frameshift |
11/27 |
- |
2 |
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 |
- |
4 |
13-32912378-A-C |
c.3886A>C |
p.Asn1296His |
Missense |
11/27 |
- |
1 |
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 |
13-32912389-AAATGA-A |
c.3897_3901del |
p.Glu1299Aspfs*7 |
Frameshift |
11/27 |
- |
1 |
13-32912395-T-C |
c.3903T>C |
p.Thr1301Thr |
Synonymous |
11/27 |
- |
1 |
13-32912396-A-T |
c.3904A>T |
p.Thr1302Ser |
Missense |
11/27 |
- |
1 |
13-32912396-A-G |
c.3904A>G |
p.Thr1302Ala |
Missense |
11/27 |
- |
2 |
13-32912396-A-C |
c.3904A>C |
p.Thr1302Pro |
Missense |
11/27 |
- |
1 |
13-32912396-TACT-T |
c.3904_3906del |
p.Thr1302del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912402-A-G |
c.3910A>G |
p.Thr1304Ala |
Missense |
11/27 |
- |
1 |
13-32912408-TGT-T |
c.3916_3917del |
p.Val1306* |
Frameshift |
11/27 |
- |
1 |
13-32912408-G-A |
c.3916G>A |
p.Val1306Ile |
Missense |
11/27 |
- |
6 |
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 |
- |
27 |
13-32912414-G-A |
c.3922G>A |
p.Glu1308Lys |
Missense |
11/27 |
- |
4 |
13-32912419-TT-T |
c.3927del |
p.Thr1310Leufs*25 |
Frameshift |
11/27 |
- |
1 |
13-32912421-C-T |
c.3929C>T |
p.Thr1310Ile |
Missense |
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 |
13-32912442-CT-TG |
c.3950_3951delinsTG |
p.Thr1317Met |
Missense |
11/27 |
- |
1 |
13-32912449-ATG-A |
c.3957_3958del |
p.Asn1319Lysfs*3 |
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 |
- |
2 |
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 |
- |
3 |
13-32912467-T-TTGCT |
c.3975_3976insTGCT |
p.Ala1326Cysfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32912467-TGCT-TGCTTGCT |
c.3975_3978dup |
p.Ala1327Cysfs*4 |
Frameshift |
11/27 |
- |
3 |
13-32912473-C-CTGCA |
c.3981_3982insTGCA |
p.Ser1328Cysfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32912475-G-C |
c.3983G>C |
p.Ser1328Thr |
Missense |
11/27 |
- |
1 |
13-32912475-G-A |
c.3983G>A |
p.Ser1328Asn |
Missense |
11/27 |
- |
1 |
13-32912477-A-T |
c.3985A>T |
p.Arg1329* |
Nonsense |
11/27 |
- |
1 |
13-32912477-AGA-CAT |
c.3985_3987delinsCAT |
p.Arg1329His |
Missense |
11/27 |
- |
1 |
13-32912491-C-G |
c.3999C>G |
p.Asn1333Lys |
Missense |
11/27 |
- |
1 |
13-32912495-G-T |
c.4003G>T |
p.Glu1335* |
Nonsense |
11/27 |
- |
2 |
13-32912496-A-T |
c.4004A>T |
p.Glu1335Val |
Missense |
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 |
- |
2 |
13-32912498-T-TCATC |
c.4006_4007insCATC |
p.Phe1336Serfs*3 |
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 |
13-32912505-GG-G |
c.4013del |
p.Gly1338Alafs*36 |
Frameshift |
11/27 |
- |
1 |
13-32912513-TT-T |
c.4021del |
p.Ser1341Glnfs*33 |
Frameshift |
11/27 |
- |
3 |
13-32912518-T-TT |
c.4026dup |
p.Lys1343* |
Nonsense |
11/27 |
- |
1 |
13-32912522-AAATGA-A |
c.4030_4034del |
p.Asn1344Tyrfs*6 |
Frameshift |
11/27 |
- |
2 |
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 |
- |
2 |
13-32912527-AT-A |
c.4035del |
p.Asp1345Glufs*29 |
Frameshift |
11/27 |
- |
1 |
13-32912529-ACT-A |
c.4037_4038del |
p.Thr1346Serfs*5 |
Frameshift |
11/27 |
- |
2 |
13-32912533-TTT-T |
c.4041_4042del |
p.Cys1348Tyrfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32912538-T-C |
c.4046T>C |
p.Ile1349Thr |
Missense |
11/27 |
- |
4 |
13-32912546-G-A |
c.4054G>A |
p.Asp1352Asn |
Missense |
11/27 |
- |
2 |
13-32912546-G-T |
c.4054G>T |
p.Asp1352Tyr |
Missense |
11/27 |
- |
6 |
13-32912549-G-T |
c.4057G>T |
p.Glu1353* |
Nonsense |
11/27 |
- |
1 |
13-32912552-A-G |
c.4060A>G |
p.Thr1354Ala |
Missense |
11/27 |
- |
1 |
13-32912553-C-T |
c.4061C>T |
p.Thr1354Met |
Missense |
11/27 |
- |
17 |
13-32912560-G-T |
c.4068G>T |
p.Leu1356Phe |
Missense |
11/27 |
- |
4 |
13-32912560-G-A |
c.4068G>A |
p.Leu1356Leu |
Synonymous |
11/27 |
- |
14 |
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 |
- |
2 |
13-32912577-CA-C |
c.4085del |
p.His1362Profs*12 |
Frameshift |
11/27 |
- |
2 |
13-32912578-C-G |
c.4086C>G |
p.His1362Gln |
Missense |
11/27 |
- |
1 |
13-32912578-C-T |
c.4086C>T |
p.His1362His |
Synonymous |
11/27 |
- |
1 |
13-32912578-C-A |
c.4086C>A |
p.His1362Gln |
Missense |
11/27 |
- |
1 |
13-32912582-A-C |
c.4090A>C |
p.Ile1364Leu |
Missense |
11/27 |
- |
6 |
13-32912582-A-G |
c.4090A>G |
p.Ile1364Val |
Missense |
11/27 |
- |
2 |
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 |
- |
6 |
13-32912587-T-A |
c.4095T>A |
p.Cys1365* |
Nonsense |
11/27 |
- |
1 |
13-32912598-CT-AA |
c.4106_4107delinsAA |
p.Ser1369* |
Nonsense |
11/27 |
- |
2 |
13-32912601-G-C |
c.4109G>C |
p.Gly1370Ala |
Missense |
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 |
- |
4 |
13-32912610-T-C |
c.4118T>C |
p.Met1373Thr |
Missense |
11/27 |
- |
1 |
13-32912610-T-G |
c.4118T>G |
p.Met1373Arg |
Missense |
11/27 |
- |
1 |
13-32912613-AA-A |
c.4121del |
p.Lys1374Argfs*14 |
Frameshift |
11/27 |
- |
2 |
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 |
- |
6 |
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 |
- |
4 |
13-32912640-GAT-G |
c.4148_4149del |
p.Asp1383Valfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32912643-TT-T |
c.4151del |
p.Leu1384Cysfs*4 |
Frameshift |
11/27 |
- |
3 |
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 |
- |
2 |
13-32912657-T-G |
c.4165T>G |
p.Phe1389Val |
Missense |
11/27 |
- |
1 |
13-32912661-TT-T |
c.4169del |
p.Leu1390Trpfs*20 |
Frameshift |
11/27 |
- |
1 |
13-32912663-GG-G |
c.4171del |
p.Glu1391Lysfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32912663-G-T |
c.4171G>T |
p.Glu1391* |
Nonsense |
11/27 |
- |
1 |
13-32912664-A-G |
c.4172A>G |
p.Glu1391Gly |
Missense |
11/27 |
- |
2 |
13-32912670-C-T |
c.4178C>T |
p.Ala1393Val |
Missense |
11/27 |
- |
1 |
13-32912670-C-G |
c.4178C>G |
p.Ala1393Gly |
Missense |
11/27 |
- |
1 |
13-32912671-G-A |
c.4179G>A |
p.Ala1393Ala |
Synonymous |
11/27 |
- |
1 |
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 |
- |
10 |
13-32912687-T-C |
c.4195T>C |
p.Cys1399Arg |
Missense |
11/27 |
- |
1 |
13-32912688-G-T |
c.4196G>T |
p.Cys1399Phe |
Missense |
11/27 |
- |
1 |
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-TC-T |
c.4211del |
p.Ser1404* |
Frameshift |
11/27 |
- |
1 |
13-32912703-C-G |
c.4211C>G |
p.Ser1404* |
Nonsense |
11/27 |
- |
2 |
13-32912707-T-TT |
c.4215dup |
p.Lys1406* |
Nonsense |
11/27 |
- |
1 |
13-32912710-A-AT |
c.4218_4219insT |
p.Glu1407* |
Nonsense |
11/27 |
- |
1 |
13-32912710-AAGAA-A |
c.4218_4221del |
p.Lys1406Asnfs*3 |
Frameshift |
11/27 |
- |
2 |
13-32912714-C-T |
c.4222C>T |
p.Gln1408* |
Nonsense |
11/27 |
- |
7 |
13-32912715-CA-C |
c.4223del |
p.Gln1408Argfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912716-G-A |
c.4224G>A |
p.Gln1408Gln |
Synonymous |
11/27 |
- |
1 |
13-32912720-A-AA |
c.4228dup |
p.Thr1410Asnfs*4 |
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 |
- |
9 |
13-32912735-GG-G |
c.4243del |
p.Glu1415Serfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912735-G-T |
c.4243G>T |
p.Glu1415* |
Nonsense |
11/27 |
- |
2 |
13-32912737-G-A |
c.4245G>A |
p.Glu1415Glu |
Synonymous |
11/27 |
- |
1 |
13-32912739-A-G |
c.4247A>G |
p.Gln1416Arg |
Missense |
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-A |
c.4258G>A |
p.Asp1420Asn |
Missense |
11/27 |
- |
1 |
13-32912750-G-T |
c.4258G>T |
p.Asp1420Tyr |
Missense |
11/27 |
- |
50 |
13-32912763-C-G |
c.4271C>G |
p.Ser1424Cys |
Missense |
11/27 |
- |
2 |
13-32912768-A-AA |
c.4276dup |
p.Thr1426Asnfs*12 |
Frameshift |
11/27 |
- |
1 |
13-32912776-T-TT |
c.4284dup |
p.Gln1429Serfs*9 |
Frameshift |
11/27 |
- |
17 |
13-32912777-C-CG |
c.4285_4286insG |
p.Gln1429Argfs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912777-C-CT |
c.4285_4286insT |
p.Gln1429Leufs*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 |
- |
4 |
13-32912783-G-A |
c.4291G>A |
p.Ala1431Thr |
Missense |
11/27 |
- |
1 |
13-32912785-A-G |
c.4293A>G |
p.Ala1431Ala |
Synonymous |
11/27 |
- |
1 |
13-32912789-G-A |
c.4297G>A |
p.Gly1433Arg |
Missense |
11/27 |
- |
2 |
13-32912793-A-T |
c.4301A>T |
p.Lys1434Ile |
Missense |
11/27 |
- |
6 |
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 |
- |
7 |
13-32912802-G-A |
c.4310G>A |
p.Ser1437Asn |
Missense |
11/27 |
- |
1 |
13-32912806-C-T |
c.4314C>T |
p.Val1438Val |
Synonymous |
11/27 |
- |
3 |
13-32912806-TC-T |
c.4314del |
p.Ala1439Profs*9 |
Frameshift |
11/27 |
- |
2 |
13-32912807-G-A |
c.4315G>A |
p.Ala1439Thr |
Missense |
11/27 |
- |
2 |
13-32912808-C-A |
c.4316C>A |
p.Ala1439Asp |
Missense |
11/27 |
- |
2 |
13-32912812-A-G |
c.4320A>G |
p.Lys1440Lys |
Synonymous |
11/27 |
- |
2 |
13-32912812-A-C |
c.4320A>C |
p.Lys1440Asn |
Missense |
11/27 |
- |
3 |
13-32912813-G-T |
c.4321G>T |
p.Glu1441* |
Nonsense |
11/27 |
- |
1 |
13-32912816-T-C |
c.4324T>C |
p.Ser1442Pro |
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 |
13-32912831-TG-T |
c.4339del |
p.Val1447* |
Frameshift |
11/27 |
- |
1 |
13-32912839-C-G |
c.4347C>G |
p.Phe1449Leu |
Missense |
11/27 |
- |
2 |
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 |
13-32912851-A-G |
c.4359A>G |
p.Lys1453Lys |
Synonymous |
11/27 |
- |
1 |
13-32912855-G-T |
c.4363G>T |
p.Glu1455* |
Nonsense |
11/27 |
- |
1 |
13-32912863-G-T |
c.4371G>T |
p.Leu1457Phe |
Missense |
11/27 |
- |
1 |
13-32912863-G-C |
c.4371G>C |
p.Leu1457Phe |
Missense |
11/27 |
- |
1 |
13-32912864-C-T |
c.4372C>T |
p.His1458Tyr |
Missense |
11/27 |
- |
3 |
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 |
- |
5 |
13-32912870-T-TAA |
c.4378_4379insAA |
p.Phe1460* |
Nonsense |
11/27 |
- |
1 |
13-32912870-CTTTTC-C |
c.4378_4382del |
p.Phe1460Leufs*4 |
Frameshift |
11/27 |
- |
1 |
13-32912871-T-C |
c.4379T>C |
p.Phe1460Ser |
Missense |
11/27 |
- |
1 |
13-32912872-TTT-T |
c.4380_4381del |
p.Ser1461Leufs*4 |
Frameshift |
11/27 |
- |
2 |
13-32912890-TA-T |
c.4398del |
p.Leu1466Phefs*5 |
Frameshift |
11/27 |
- |
1 |
13-32912890-TACATT-T |
c.4398_4402del |
p.Leu1466Phefs*2 |
Frameshift |
11/27 |
- |
3 |
13-32912897-TGACAT-T |
c.4405_4409del |
p.Asp1469Lysfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32912901-ATAAGA-A |
c.4409_4413del |
p.Ile1470Lysfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32912906-A-C |
c.4414A>C |
p.Lys1472Gln |
Missense |
11/27 |
- |
1 |
13-32912907-AAGAA-A |
c.4415_4418del |
p.Lys1472Thrfs*6 |
Frameshift |
11/27 |
- |
4 |
13-32912908-AGA-A |
c.4416_4417del |
p.Asn1473Glnfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32912911-AC-A |
c.4419del |
p.Asn1473Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32912913-A-G |
c.4421A>G |
p.Lys1474Arg |
Missense |
11/27 |
- |
1 |
13-32912919-A-G |
c.4427A>G |
p.Asp1476Gly |
Missense |
11/27 |
- |
4 |
13-32912921-CA-C |
c.4429del |
p.Ile1477Phefs*2 |
Frameshift |
11/27 |
- |
1 |
13-32912928-G-C |
c.4436G>C |
p.Ser1479Thr |
Missense |
11/27 |
- |
3 |
13-32912932-T-G |
c.4440T>G |
p.Tyr1480* |
Nonsense |
11/27 |
- |
3 |
13-32912937-A-G |
c.4445A>G |
p.Glu1482Gly |
Missense |
11/27 |
- |
1 |
13-32912941-CA-C |
c.4449del |
p.Asp1484Thrfs*2 |
Frameshift |
11/27 |
- |
6 |
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 |
- |
2 |
13-32912949-T-TA |
c.4457_4458insA |
p.Lys1487* |
Nonsense |
11/27 |
- |
1 |
13-32912951-A-AC |
c.4459_4460insC |
p.Lys1487Thrfs*27 |
Frameshift |
11/27 |
- |
1 |
13-32912952-AAA-A |
c.4460_4461del |
p.Lys1487Thrfs*26 |
Frameshift |
11/27 |
- |
1 |
13-32912956-C-A |
c.4464C>A |
p.His1488Gln |
Missense |
11/27 |
- |
1 |
13-32912956-C-G |
c.4464C>G |
p.His1488Gln |
Missense |
11/27 |
- |
1 |
13-32912959-A-T |
c.4467A>T |
p.Lys1489Asn |
Missense |
11/27 |
- |
1 |
13-32912959-A-C |
c.4467A>C |
p.Lys1489Asn |
Missense |
11/27 |
- |
1 |
13-32912963-ACTGA-A |
c.4471_4474del |
p.Leu1491Lysfs*12 |
Frameshift |
11/27 |
- |
4 |
13-32912969-G-T |
c.4477G>T |
p.Glu1493* |
Nonsense |
11/27 |
- |
2 |
13-32912969-G-C |
c.4477G>C |
p.Glu1493Gln |
Missense |
11/27 |
- |
1 |
13-32912969-AGAA-A |
c.4477_4479del |
p.Glu1493del |
InFrameDeletion |
11/27 |
- |
1 |
13-32912970-GAAAG-G |
c.4478_4481del |
p.Glu1493Valfs*10 |
Frameshift |
11/27 |
- |
10 |
13-32912971-A-AT |
c.4479_4480insT |
p.Ser1494* |
Nonsense |
11/27 |
- |
1 |
13-32912972-AA-A |
c.4480del |
p.Ser1494Valfs*10 |
Frameshift |
11/27 |
- |
2 |
13-32912972-A-C |
c.4480A>C |
p.Ser1494Arg |
Missense |
11/27 |
- |
1 |
13-32912974-T-A |
c.4482T>A |
p.Ser1494Arg |
Missense |
11/27 |
- |
1 |
13-32912974-T-G |
c.4482T>G |
p.Ser1494Arg |
Missense |
11/27 |
- |
1 |
13-32912975-TGT-T |
c.4483_4484del |
p.Val1495Profs*18 |
Frameshift |
11/27 |
- |
1 |
13-32912979-CC-C |
c.4487del |
p.Pro1496Glnfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32912996-C-G |
c.4504C>G |
p.Gln1502Glu |
Missense |
11/27 |
- |
1 |
13-32912996-C-A |
c.4504C>A |
p.Gln1502Lys |
Missense |
11/27 |
- |
1 |
13-32912999-C-T |
c.4507C>T |
p.Leu1503Leu |
Synonymous |
11/27 |
- |
1 |
13-32913004-G-GT |
c.4512_4513insT |
p.Thr1505Tyrfs*9 |
Frameshift |
11/27 |
- |
2 |
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 |
- |
2 |
13-32913023-G-A |
c.4531G>A |
p.Glu1511Lys |
Missense |
11/27 |
- |
3 |
13-32913025-AA-A |
c.4533del |
p.Glu1511Aspfs*32 |
Frameshift |
11/27 |
- |
2 |
13-32913026-CGT-TGG |
c.4534_4536delinsTGG |
p.Arg1512Trp |
Missense |
11/27 |
- |
1 |
13-32913026-C-T |
c.4534C>T |
p.Arg1512Cys |
Missense |
11/27 |
- |
5 |
13-32913026-C-A |
c.4534C>A |
p.Arg1512Ser |
Missense |
11/27 |
- |
2 |
13-32913027-G-C |
c.4535G>C |
p.Arg1512Pro |
Missense |
11/27 |
- |
2 |
13-32913027-G-A |
c.4535G>A |
p.Arg1512His |
Missense |
11/27 |
- |
2 |
13-32913027-CG-C |
c.4535del |
p.Arg1512Leufs*31 |
Frameshift |
11/27 |
- |
1 |
13-32913031-T-A |
c.4539T>A |
p.Asp1513Glu |
Missense |
11/27 |
- |
1 |
13-32913031-T-G |
c.4539T>G |
p.Asp1513Glu |
Missense |
11/27 |
- |
1 |
13-32913032-G-GC |
c.4540_4541insC |
p.Glu1514Alafs*15 |
Frameshift |
11/27 |
- |
1 |
13-32913032-G-A |
c.4540G>A |
p.Glu1514Lys |
Missense |
11/27 |
- |
1 |
13-32913036-A-AA |
c.4544dup |
p.Ile1516Aspfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32913040-C-G |
c.4548C>G |
p.Ile1516Met |
Missense |
11/27 |
- |
1 |
13-32913044-AG-A |
c.4552del |
p.Glu1518Asnfs*25 |
Frameshift |
11/27 |
- |
3 |
13-32913053-C-T |
c.4561C>T |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
15 |
13-32913055-A-T |
c.4563A>T |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
31 |
13-32913055-A-G |
c.4563A>G |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
37 |
13-32913055-A-C |
c.4563A>C |
p.Leu1521Leu |
Synonymous |
11/27 |
- |
31 |
13-32913056-TT-GG |
c.4564_4565delinsGG |
p.Leu1522Gly |
Missense |
11/27 |
- |
1 |
13-32913056-ATT-A |
c.4564_4565del |
p.Leu1522Glyfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913060-GT-AG |
c.4568_4569delinsAG |
p.Gly1523Glu |
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 |
- |
10 |
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 |
13-32913066-A-T |
c.4574A>T |
p.His1525Leu |
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 |
- |
5 |
13-32913070-A-G |
c.4578A>G |
p.Thr1526Thr |
Synonymous |
11/27 |
- |
4 |
13-32913070-A-C |
c.4578A>C |
p.Thr1526Thr |
Synonymous |
11/27 |
- |
4 |
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 |
- |
4 |
13-32913076-C-G |
c.4584C>G |
p.Ser1528Arg |
Missense |
11/27 |
- |
3 |
13-32913077-G-A |
c.4585G>A |
p.Gly1529Arg |
Missense |
11/27 |
- |
32 |
13-32913079-G-T |
c.4587G>T |
p.Gly1529Gly |
Synonymous |
11/27 |
- |
1 |
13-32913080-A-T |
c.4588A>T |
p.Lys1530* |
Nonsense |
11/27 |
- |
1 |
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-C |
c.4590A>C |
p.Lys1530Asn |
Missense |
11/27 |
- |
1 |
13-32913082-A-T |
c.4590A>T |
p.Lys1530Asn |
Missense |
11/27 |
- |
1 |
13-32913085-AA-A |
c.4593del |
p.Val1532Leufs*11 |
Frameshift |
11/27 |
- |
1 |
13-32913085-A-T |
c.4593A>T |
p.Lys1531Asn |
Missense |
11/27 |
- |
1 |
13-32913091-A-C |
c.4599A>C |
p.Lys1533Asn |
Missense |
11/27 |
- |
6 |
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 |
- |
2 |
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 |
- |
2 |
13-32913108-TT-T |
c.4616del |
p.Leu1539Trpfs*4 |
Frameshift |
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 |
13-32913117-T-A |
c.4625T>A |
p.Val1542Glu |
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 |
- |
3 |
13-32913123-AA-A |
c.4631del |
p.Asn1544Thrfs*24 |
Frameshift |
11/27 |
- |
7 |
13-32913123-A-AG |
c.4631_4632insG |
p.Asn1544Lysfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913124-ACCTT-A |
c.4632_4635del |
p.Phe1546Metfs*21 |
Frameshift |
11/27 |
- |
1 |
13-32913125-CTT-GAG |
c.4633_4635delinsGAG |
p.Leu1545Glu |
Missense |
11/27 |
- |
1 |
13-32913125-CTT-TGG |
c.4633_4635delinsTGG |
p.Leu1545Trp |
Missense |
11/27 |
- |
1 |
13-32913125-C-T |
c.4633C>T |
p.Leu1545Phe |
Missense |
11/27 |
- |
2 |
13-32913126-T-C |
c.4634T>C |
p.Leu1545Pro |
Missense |
11/27 |
- |
1 |
13-32913128-TTT-GAG |
c.4636_4638delinsGAG |
p.Phe1546Glu |
Missense |
11/27 |
- |
1 |
13-32913130-T-A |
c.4638T>A |
p.Phe1546Leu |
Missense |
11/27 |
- |
1 |
13-32913130-T-G |
c.4638T>G |
p.Phe1546Leu |
Missense |
11/27 |
- |
1 |
13-32913128-T-C |
c.4636T>C |
p.Phe1546Leu |
Missense |
11/27 |
- |
1 |
13-32913129-TT-AA |
c.4637_4638inv |
p.Phe1546* |
Nonsense |
11/27 |
- |
1 |
13-32913129-TT-GG |
c.4637_4638delinsGG |
p.Phe1546Trp |
Missense |
11/27 |
- |
1 |
13-32913130-T-TT |
c.4638dup |
p.Asp1547* |
Nonsense |
11/27 |
- |
2 |
13-32913130-TT-T |
c.4638del |
p.Phe1546Leufs*22 |
Frameshift |
11/27 |
- |
4 |
13-32913134-G-A |
c.4642G>A |
p.Glu1548Lys |
Missense |
11/27 |
- |
1 |
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 |
13-32913141-A-G |
c.4649A>G |
p.Glu1550Gly |
Missense |
11/27 |
- |
1 |
13-32913147-GT-AG |
c.4655_4656delinsAG |
p.Gly1552Glu |
Missense |
11/27 |
- |
1 |
13-32913148-T-C |
c.4656T>C |
p.Gly1552Gly |
Synonymous |
11/27 |
- |
2 |
13-32913169-TT-T |
c.4677del |
p.Phe1559Leufs*9 |
Frameshift |
11/27 |
- |
2 |
13-32913173-C-A |
c.4681C>A |
p.His1561Asn |
Missense |
11/27 |
- |
12 |
13-32913178-A-G |
c.4686A>G |
p.Gln1562Gln |
Synonymous |
11/27 |
- |
4 |
13-32913180-G-A |
c.4688G>A |
p.Trp1563* |
Nonsense |
11/27 |
- |
1 |
13-32913181-G-A |
c.4689G>A |
p.Trp1563* |
Nonsense |
11/27 |
- |
1 |
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 |
- |
2 |
13-32913187-G-T |
c.4695G>T |
p.Lys1565Asn |
Missense |
11/27 |
- |
2 |
13-32913188-A-G |
c.4696A>G |
p.Thr1566Ala |
Missense |
11/27 |
- |
2 |
13-32913190-C-T |
c.4698C>T |
p.Thr1566Thr |
Synonymous |
11/27 |
- |
2 |
13-32913195-AA-A |
c.4703del |
p.Lys1568Serfs*11 |
Frameshift |
11/27 |
- |
1 |
13-32913202-GA-G |
c.4710del |
p.Glu1571Argfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32913204-GAG-G |
c.4712_4713del |
p.Glu1571Glyfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913206-G-A |
c.4714G>A |
p.Ala1572Thr |
Missense |
11/27 |
- |
1 |
13-32913206-G-C |
c.4714G>C |
p.Ala1572Pro |
Missense |
11/27 |
- |
1 |
13-32913207-C-G |
c.4715C>G |
p.Ala1572Gly |
Missense |
11/27 |
- |
1 |
13-32913207-C-T |
c.4715C>T |
p.Ala1572Val |
Missense |
11/27 |
- |
2 |
13-32913208-CT-AAAGACC |
c.4716_4717delinsAAAGACC |
p.Cys1573Lysfs*8 |
Frameshift |
11/27 |
- |
1 |
13-32913208-CT-AAAGA |
c.4716_4717delinsAAAGA |
p.Cys1573delinsLysSer |
MultiAAMissense |
11/27 |
- |
1 |
13-32913210-G-A |
c.4718G>A |
p.Cys1573Tyr |
Missense |
11/27 |
- |
1 |
13-32913210-G-T |
c.4718G>T |
p.Cys1573Phe |
Missense |
11/27 |
- |
1 |
13-32913214-A-AA |
c.4722dup |
p.Asp1575Argfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913217-C-T |
c.4725C>T |
p.Asp1575Asp |
Synonymous |
11/27 |
- |
1 |
13-32913220-T-TT |
c.4728dup |
p.Glu1577* |
Nonsense |
11/27 |
- |
1 |
13-32913223-AA-A |
c.4731del |
p.Glu1577Aspfs*2 |
Frameshift |
11/27 |
- |
2 |
13-32913223-A-AA |
c.4731dup |
p.Leu1578Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913232-T-TTG |
c.4740_4741insTG |
p.Glu1581Trpfs*37 |
Frameshift |
11/27 |
- |
2 |
13-32913233-G-C |
c.4741G>C |
p.Glu1581Gln |
Missense |
11/27 |
- |
2 |
13-32913233-G-A |
c.4741G>A |
p.Glu1581Lys |
Missense |
11/27 |
- |
1 |
13-32913234-A-ATG |
c.4742_4743insTG |
p.Glu1581Aspfs*37 |
Frameshift |
11/27 |
- |
2 |
13-32913240-T-C |
c.4748T>C |
p.Ile1583Thr |
Missense |
11/27 |
- |
1 |
13-32913242-G-A |
c.4750G>A |
p.Glu1584Lys |
Missense |
11/27 |
- |
1 |
13-32913249-C-T |
c.4757C>T |
p.Thr1586Ile |
Missense |
11/27 |
- |
1 |
13-32913251-G-A |
c.4759G>A |
p.Ala1587Thr |
Missense |
11/27 |
- |
1 |
13-32913259-A-G |
c.4767A>G |
p.Pro1589Pro |
Synonymous |
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 |
- |
2 |
13-32913269-G-A |
c.4777G>A |
p.Glu1593Lys |
Missense |
11/27 |
- |
1 |
13-32913269-G-T |
c.4777G>T |
p.Glu1593* |
Nonsense |
11/27 |
- |
3 |
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 |
- |
9 |
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 |
- |
2 |
13-32913286-C-T |
c.4794C>T |
p.Leu1598Leu |
Synonymous |
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 |
13-32913300-A-AA |
c.4808dup |
p.Asn1603Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913302-C-T |
c.4810C>T |
p.Leu1604Phe |
Missense |
11/27 |
- |
2 |
13-32913305-G-A |
c.4813G>A |
p.Val1605Ile |
Missense |
11/27 |
- |
2 |
13-32913306-T-C |
c.4814T>C |
p.Val1605Ala |
Missense |
11/27 |
- |
2 |
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 |
- |
4 |
13-32913321-GTG-G |
c.4829_4830del |
p.Val1610Glyfs*4 |
Frameshift |
11/27 |
- |
7 |
13-32913322-G-A |
c.4830G>A |
p.Val1610Val |
Synonymous |
11/27 |
- |
1 |
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 |
- |
5 |
13-32913357-G-C |
c.4865G>C |
p.Arg1622Thr |
Missense |
11/27 |
- |
2 |
13-32913358-GA-G |
c.4866del |
p.Arg1622Serfs*14 |
Frameshift |
11/27 |
- |
1 |
13-32913364-CTG-C |
c.4872_4873del |
p.Glu1625Lysfs*13 |
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 |
- |
8 |
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 |
13-32913377-A-G |
c.4885A>G |
p.Thr1629Ala |
Missense |
11/27 |
- |
1 |
13-32913381-C-G |
c.4889C>G |
p.Ser1630* |
Nonsense |
11/27 |
- |
15 |
13-32913381-C-A |
c.4889C>A |
p.Ser1630* |
Nonsense |
11/27 |
- |
3 |
13-32913381-C-T |
c.4889C>T |
p.Ser1630Leu |
Missense |
11/27 |
- |
1 |
13-32913386-A-G |
c.4894A>G |
p.Ser1632Gly |
Missense |
11/27 |
- |
1 |
13-32913386-AAG-A |
c.4894_4895del |
p.Ser1632Tyrfs*6 |
Frameshift |
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 |
13-32913398-A-G |
c.4906A>G |
p.Lys1636Glu |
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 |
13-32913404-A-G |
c.4912A>G |
p.Lys1638Glu |
Missense |
11/27 |
- |
1 |
13-32913405-A-G |
c.4913A>G |
p.Lys1638Arg |
Missense |
11/27 |
- |
1 |
13-32913406-A-T |
c.4914A>T |
p.Lys1638Asn |
Missense |
11/27 |
- |
1 |
13-32913406-A-AA |
c.4914dup |
p.Val1639Serfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913407-G-C |
c.4915G>C |
p.Val1639Leu |
Missense |
11/27 |
- |
2 |
13-32913407-G-A |
c.4915G>A |
p.Val1639Ile |
Missense |
11/27 |
- |
5 |
13-32913419-G-A |
c.4927G>A |
p.Val1643Ile |
Missense |
11/27 |
- |
2 |
13-32913420-T-C |
c.4928T>C |
p.Val1643Ala |
Missense |
11/27 |
- |
5 |
13-32913422-G-A |
c.4930G>A |
p.Glu1644Lys |
Missense |
11/27 |
- |
1 |
13-32913422-G-C |
c.4930G>C |
p.Glu1644Gln |
Missense |
11/27 |
- |
1 |
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 |
- |
3 |
13-32913427-A-AT |
c.4935_4936insT |
p.Glu1646* |
Nonsense |
11/27 |
- |
1 |
13-32913428-AGAAA-A |
c.4936_4939del |
p.Glu1646Glnfs*23 |
Frameshift |
11/27 |
- |
21 |
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 |
- |
2 |
13-32913439-AAA-A |
c.4947_4948del |
p.Pro1651Cysfs*14 |
Frameshift |
11/27 |
- |
2 |
13-32913448-A-G |
c.4956A>G |
p.Ala1652Ala |
Synonymous |
11/27 |
- |
4 |
13-32913454-T-A |
c.4962T>A |
p.Cys1654* |
Nonsense |
11/27 |
- |
2 |
13-32913455-TA-AC |
c.4963_4964delinsAC |
p.Tyr1655Thr |
Missense |
11/27 |
- |
1 |
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-TACACAAATCAGTCCCCTTA-T |
c.4964_4982del |
p.Tyr1655Phefs*9 |
Frameshift |
11/27 |
- |
1 |
13-32913456-A-AA |
c.4964dup |
p.Tyr1655* |
Nonsense |
11/27 |
- |
5 |
13-32913457-AC-A |
c.4965del |
p.Tyr1655* |
Frameshift |
11/27 |
- |
4 |
13-32913457-C-G |
c.4965C>G |
p.Tyr1655* |
Nonsense |
11/27 |
- |
26 |
13-32913457-C-A |
c.4965C>A |
p.Tyr1655* |
Nonsense |
11/27 |
- |
18 |
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 |
- |
5 |
13-32913463-T-TGT |
c.4971_4972insGT |
p.Gln1658Valfs*13 |
Frameshift |
11/27 |
- |
1 |
13-32913464-C-T |
c.4972C>T |
p.Gln1658* |
Nonsense |
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 |
13-32913486-A-G |
c.4994A>G |
p.Glu1665Gly |
Missense |
11/27 |
- |
1 |
13-32913489-AA-A |
c.4997del |
p.Asn1666Ilefs*4 |
Frameshift |
11/27 |
- |
1 |
13-32913491-T-TT |
c.4999dup |
p.Ser1667Phefs*10 |
Frameshift |
11/27 |
- |
1 |
13-32913498-T-A |
c.5006T>A |
p.Leu1669* |
Nonsense |
11/27 |
- |
1 |
13-32913498-T-G |
c.5006T>G |
p.Leu1669* |
Nonsense |
11/27 |
- |
1 |
13-32913506-T-C |
c.5014T>C |
p.Tyr1672His |
Missense |
11/27 |
- |
1 |
13-32913506-T-TT |
c.5014dup |
p.Tyr1672Leufs*5 |
Frameshift |
11/27 |
- |
1 |
13-32913512-A-G |
c.5020A>G |
p.Ser1674Gly |
Missense |
11/27 |
- |
5 |
13-32913521-AG-CA |
c.5029_5030delinsCA |
p.Arg1677Gln |
Missense |
11/27 |
- |
1 |
13-32913522-AGAAA-A |
c.5030_5033del |
p.Arg1677Lysfs*4 |
Frameshift |
11/27 |
- |
4 |
13-32913525-A-G |
c.5033A>G |
p.Lys1678Arg |
Missense |
11/27 |
- |
1 |
13-32913525-A-C |
c.5033A>C |
p.Lys1678Thr |
Missense |
11/27 |
- |
1 |
13-32913528-CT-TG |
c.5036_5037delinsTG |
p.Thr1679Met |
Missense |
11/27 |
- |
1 |
13-32913534-GTG-G |
c.5042_5043del |
p.Val1681Glufs*7 |
Frameshift |
11/27 |
- |
12 |
13-32913535-TG-T |
c.5043del |
p.Ser1682Valfs*24 |
Frameshift |
11/27 |
- |
1 |
13-32913536-A-G |
c.5044A>G |
p.Ser1682Gly |
Missense |
11/27 |
- |
1 |
13-32913539-C-T |
c.5047C>T |
p.Gln1683* |
Nonsense |
11/27 |
- |
1 |
13-32913540-A-AA |
c.5048dup |
p.Thr1684Aspfs*5 |
Frameshift |
11/27 |
- |
1 |
13-32913540-A-T |
c.5048A>T |
p.Gln1683Leu |
Missense |
11/27 |
- |
1 |
13-32913543-C-G |
c.5051C>G |
p.Thr1684Ser |
Missense |
11/27 |
- |
2 |
13-32913546-C-T |
c.5054C>T |
p.Ser1685Leu |
Missense |
11/27 |
- |
1 |
13-32913552-T-C |
c.5060T>C |
p.Leu1687Pro |
Missense |
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 |
- |
5 |
13-32913557-GC-AAA |
c.5065_5066delinsAAA |
p.Ala1689Lysfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913560-A-C |
c.5068A>C |
p.Lys1690Gln |
Missense |
11/27 |
- |
1 |
13-32913562-A-C |
c.5070A>C |
p.Lys1690Asn |
Missense |
11/27 |
- |
14 |
13-32913562-AAAAA-A |
c.5070_5073del |
p.Lys1690Asnfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32913565-AA-A |
c.5073del |
p.Lys1691Asnfs*15 |
Frameshift |
11/27 |
- |
4 |
13-32913565-A-AA |
c.5073dup |
p.Trp1692Metfs*3 |
Frameshift |
11/27 |
- |
31 |
13-32913565-A-T |
c.5073A>T |
p.Lys1691Asn |
Missense |
11/27 |
- |
2 |
13-32913566-T-TA |
c.5074_5075insA |
p.Trp1692* |
Nonsense |
11/27 |
- |
1 |
13-32913566-TG-AT |
c.5074_5075delinsAT |
p.Trp1692Met |
Missense |
11/27 |
- |
1 |
13-32913567-G-A |
c.5075G>A |
p.Trp1692* |
Nonsense |
11/27 |
- |
4 |
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-G-T |
c.5081G>T |
p.Arg1694Ile |
Missense |
11/27 |
- |
1 |
13-32913573-AGAGA-A |
c.5081_5084del |
p.Arg1694Lysfs*11 |
Frameshift |
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 |
- |
2 |
13-32913588-A-G |
c.5096A>G |
p.Asp1699Gly |
Missense |
11/27 |
- |
4 |
13-32913593-C-T |
c.5101C>T |
p.Gln1701* |
Nonsense |
11/27 |
- |
7 |
13-32913595-A-AA |
c.5103dup |
p.Pro1702Thrfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32913598-CA-C |
c.5106del |
p.Glu1703Lysfs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913602-A-T |
c.5110A>T |
p.Arg1704* |
Nonsense |
11/27 |
- |
2 |
13-32913602-AAGAA-A |
c.5110_5113del |
p.Arg1704* |
Frameshift |
11/27 |
- |
3 |
13-32913603-G-C |
c.5111G>C |
p.Arg1704Thr |
Missense |
11/27 |
- |
1 |
13-32913605-A-G |
c.5113A>G |
p.Ile1705Val |
Missense |
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 |
- |
11 |
13-32913609-A-C |
c.5117A>C |
p.Asn1706Thr |
Missense |
11/27 |
- |
1 |
13-32913609-A-G |
c.5117A>G |
p.Asn1706Ser |
Missense |
11/27 |
- |
1 |
13-32913615-C-A |
c.5123C>A |
p.Ala1708Glu |
Missense |
11/27 |
- |
14 |
13-32913615-C-G |
c.5123C>G |
p.Ala1708Gly |
Missense |
11/27 |
- |
1 |
13-32913618-A-C |
c.5126A>C |
p.Asp1709Ala |
Missense |
11/27 |
- |
1 |
13-32913619-T-G |
c.5127T>G |
p.Asp1709Glu |
Missense |
11/27 |
- |
1 |
13-32913619-T-A |
c.5127T>A |
p.Asp1709Glu |
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 |
- |
8 |
13-32913622-T-A |
c.5130T>A |
p.Tyr1710* |
Nonsense |
11/27 |
- |
2 |
13-32913622-T-G |
c.5130T>G |
p.Tyr1710* |
Nonsense |
11/27 |
- |
2 |
13-32913626-G-T |
c.5134G>T |
p.Gly1712* |
Nonsense |
11/27 |
- |
1 |
13-32913627-G-C |
c.5135G>C |
p.Gly1712Ala |
Missense |
11/27 |
- |
1 |
13-32913633-TATTT-T |
c.5141_5144del |
p.Tyr1714Cysfs*10 |
Frameshift |
11/27 |
- |
4 |
13-32913638-GTATG-G |
c.5146_5149del |
p.Tyr1716Lysfs*8 |
Frameshift |
11/27 |
- |
9 |
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-CAG-C |
c.5164_5165del |
p.Ser1722Tyrfs*4 |
Frameshift |
11/27 |
- |
17 |
13-32913656-CA-C |
c.5164del |
p.Ser1722Valfs*3 |
Frameshift |
11/27 |
- |
5 |
13-32913656-AG-TA |
c.5164_5165delinsTA |
p.Ser1722Tyr |
Missense |
11/27 |
- |
1 |
13-32913659-A-C |
c.5167A>C |
p.Thr1723Pro |
Missense |
11/27 |
- |
3 |
13-32913662-A-G |
c.5170A>G |
p.Ile1724Val |
Missense |
11/27 |
- |
1 |
13-32913663-AT-A |
c.5171del |
p.Ile1724Lysfs*17 |
Frameshift |
11/27 |
- |
2 |
13-32913665-G-GA |
c.5173_5174insA |
p.Ala1725Aspfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913666-C-G |
c.5174C>G |
p.Ala1725Gly |
Missense |
11/27 |
- |
1 |
13-32913672-A-T |
c.5180A>T |
p.Asn1727Ile |
Missense |
11/27 |
- |
1 |
13-32913674-G-A |
c.5182G>A |
p.Asp1728Asn |
Missense |
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 |
- |
2 |
13-32913683-C-T |
c.5191C>T |
p.His1731Tyr |
Missense |
11/27 |
- |
4 |
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 |
- |
12 |
13-32913691-C-T |
c.5199C>T |
p.Ser1733Ser |
Synonymous |
11/27 |
- |
18 |
13-32913692-G-C |
c.5200G>C |
p.Glu1734Gln |
Missense |
11/27 |
- |
1 |
13-32913692-G-A |
c.5200G>A |
p.Glu1734Lys |
Missense |
11/27 |
- |
2 |
13-32913692-G-T |
c.5200G>T |
p.Glu1734* |
Nonsense |
11/27 |
- |
2 |
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 |
13-32913698-C-T |
c.5206C>T |
p.Gln1736* |
Nonsense |
11/27 |
- |
1 |
13-32913700-A-AT |
c.5208_5209insT |
p.Asp1737* |
Nonsense |
11/27 |
- |
1 |
13-32913705-ACTTA-A |
c.5213_5216del |
p.Thr1738Ilefs*2 |
Frameshift |
11/27 |
- |
17 |
13-32913708-A-AA |
c.5216dup |
p.Tyr1739* |
Nonsense |
11/27 |
- |
2 |
13-32913708-A-T |
c.5216A>T |
p.Tyr1739Phe |
Missense |
11/27 |
- |
1 |
13-32913708-A-AAAA |
c.5216_5217insAAA |
p.Tyr1739delins* |
Nonsense |
11/27 |
- |
1 |
13-32913709-ATTTAAGT-A |
c.5217_5223del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
7 |
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-T-A |
c.5217T>A |
p.Tyr1739* |
Nonsense |
11/27 |
- |
1 |
13-32913709-ATTTA-A |
c.5217_5220del |
p.Tyr1739* |
Frameshift |
11/27 |
- |
2 |
13-32913709-ATTTAA-A |
c.5217_5221del |
p.Tyr1739* |
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 |
- |
2 |
13-32913710-TTTAAGTA-T |
c.5218_5224del |
p.Leu1740Thrfs*35 |
Frameshift |
11/27 |
- |
1 |
13-32913711-TT-T |
c.5219del |
p.Leu1740* |
Frameshift |
11/27 |
- |
2 |
13-32913711-T-G |
c.5219T>G |
p.Leu1740* |
Nonsense |
11/27 |
- |
3 |
13-32913711-T-TTA |
c.5219_5220insTA |
p.Leu1740Phefs*38 |
Frameshift |
11/27 |
- |
1 |
13-32913711-T-TT |
c.5219dup |
p.Leu1740Phefs*3 |
Frameshift |
11/27 |
- |
1 |
13-32913712-A-AT |
c.5220_5221insT |
p.Ser1741* |
Nonsense |
11/27 |
- |
1 |
13-32913714-AGTAA-A |
c.5222_5225del |
p.Ser1741Thrfs*35 |
Frameshift |
11/27 |
- |
3 |
13-32913714-AGTA-A |
c.5222_5224del |
p.Ser1741del |
InFrameDeletion |
11/27 |
- |
1 |
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 |
13-32913722-TA-T |
c.5230del |
p.Ser1744Alafs*33 |
Frameshift |
11/27 |
- |
1 |
13-32913723-G-T |
c.5231G>T |
p.Ser1744Ile |
Missense |
11/27 |
- |
5 |
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 |
- |
11 |
13-32913730-CT-C |
c.5238del |
p.Asn1747Thrfs*30 |
Frameshift |
11/27 |
- |
3 |
13-32913731-A-AT |
c.5239_5240insT |
p.Asn1747Ilefs*8 |
Frameshift |
11/27 |
- |
13 |
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 |
13-32913744-A-G |
c.5252A>G |
p.Tyr1751Cys |
Missense |
11/27 |
- |
1 |
13-32913745-C-A |
c.5253C>A |
p.Tyr1751* |
Nonsense |
11/27 |
- |
2 |
13-32913746-C-G |
c.5254C>G |
p.His1752Asp |
Missense |
11/27 |
- |
1 |
13-32913752-G-T |
c.5260G>T |
p.Asp1754Tyr |
Missense |
11/27 |
- |
1 |
13-32913752-G-A |
c.5260G>A |
p.Asp1754Asn |
Missense |
11/27 |
- |
1 |
13-32913753-A-G |
c.5261A>G |
p.Asp1754Gly |
Missense |
11/27 |
- |
1 |
13-32913755-G-T |
c.5263G>T |
p.Glu1755* |
Nonsense |
11/27 |
- |
1 |
13-32913755-G-GC |
c.5263_5264insC |
p.Glu1755Alafs*4 |
Frameshift |
11/27 |
- |
6 |
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 |
13-32913759-T-A |
c.5267T>A |
p.Val1756Glu |
Missense |
11/27 |
- |
1 |
13-32913762-A-G |
c.5270A>G |
p.Tyr1757Cys |
Missense |
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-A |
c.5278T>A |
p.Ser1760Thr |
Missense |
11/27 |
- |
1 |
13-32913770-T-G |
c.5278T>G |
p.Ser1760Ala |
Missense |
11/27 |
- |
6 |
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 |
- |
3 |
13-32913773-G-T |
c.5281G>T |
p.Gly1761* |
Nonsense |
11/27 |
- |
1 |
13-32913778-T-A |
c.5286T>A |
p.Tyr1762* |
Nonsense |
11/27 |
- |
4 |
13-32913779-C-CAG |
c.5287_5288insAG |
p.Leu1763Glnfs*15 |
Frameshift |
11/27 |
- |
1 |
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 |
- |
4 |
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 |
13-32913797-G-C |
c.5305G>C |
p.Asp1769His |
Missense |
11/27 |
- |
1 |
13-32913803-TGGTATTGAGCCAGTATTGAAGAA-T |
c.5311_5333del |
p.Gly1771Cysfs*2 |
Frameshift |
11/27 |
- |
1 |
13-32913804-G-A |
c.5312G>A |
p.Gly1771Asp |
Missense |
11/27 |
- |
18 |
13-32913804-G-T |
c.5312G>T |
p.Gly1771Val |
Missense |
11/27 |
- |
4 |
13-32913811-G-A |
c.5319G>A |
p.Glu1773Glu |
Synonymous |
11/27 |
- |
1 |
13-32913811-G-C |
c.5319G>C |
p.Glu1773Asp |
Missense |
11/27 |
- |
1 |
13-32913813-C-T |
c.5321C>T |
p.Pro1774Leu |
Missense |
11/27 |
- |
1 |
13-32913816-GTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATATCCAATGTA-G |
c.5324_5382del |
p.Val1775Glufs*12 |
Frameshift |
11/27 |
- |
1 |
13-32913816-T-G |
c.5324T>G |
p.Val1775Gly |
Missense |
11/27 |
- |
3 |
13-32913819-TTG-T |
c.5327_5328del |
p.Leu1776* |
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 |
- |
2 |
13-32913834-A-G |
c.5342A>G |
p.Asp1781Gly |
Missense |
11/27 |
- |
1 |
13-32913836-C-T |
c.5344C>T |
p.Gln1782* |
Nonsense |
11/27 |
- |
1 |
13-32913836-C-A |
c.5344C>A |
p.Gln1782Lys |
Missense |
11/27 |
- |
1 |
13-32913837-A-G |
c.5345A>G |
p.Gln1782Arg |
Missense |
11/27 |
- |
1 |
13-32913837-A-C |
c.5345A>C |
p.Gln1782Pro |
Missense |
11/27 |
- |
1 |
13-32913841-A-AT |
c.5349_5350insT |
p.Asn1784* |
Nonsense |
11/27 |
- |
1 |
13-32913842-AAA-A |
c.5350_5351del |
p.Asn1784Hisfs*2 |
Frameshift |
11/27 |
- |
9 |
13-32913843-A-AA |
c.5351dup |
p.Asn1784Lysfs*3 |
Frameshift |
11/27 |
- |
28 |
13-32913843-AA-A |
c.5351del |
p.Asn1784Thrfs*7 |
Frameshift |
11/27 |
- |
10 |
13-32913844-C-G |
c.5352C>G |
p.Asn1784Lys |
Missense |
11/27 |
- |
1 |
13-32913844-C-A |
c.5352C>A |
p.Asn1784Lys |
Missense |
11/27 |
- |
1 |
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 |
13-32913870-A-G |
c.5378A>G |
p.Asn1793Ser |
Missense |
11/27 |
- |
3 |
13-32913870-A-T |
c.5378A>T |
p.Asn1793Ile |
Missense |
11/27 |
- |
1 |
13-32913872-TG-T |
c.5380del |
p.Val1794* |
Frameshift |
11/27 |
- |
1 |
13-32913872-GT-TA |
c.5380_5381delinsTA |
p.Val1794* |
Nonsense |
11/27 |
- |
1 |
13-32913874-A-AC |
c.5382_5383insC |
p.Lys1795Glnfs*12 |
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 |
- |
2 |
13-32913889-A-G |
c.5397A>G |
p.Ala1799Ala |
Synonymous |
11/27 |
- |
1 |
13-32913898-A-T |
c.5406A>T |
p.Gln1802His |
Missense |
11/27 |
- |
1 |
13-32913898-A-C |
c.5406A>C |
p.Gln1802His |
Missense |
11/27 |
- |
1 |
13-32913900-C-T |
c.5408C>T |
p.Thr1803Ile |
Missense |
11/27 |
- |
1 |
13-32913902-TGT-T |
c.5410_5411del |
p.Val1804Lysfs*2 |
Frameshift |
11/27 |
- |
7 |
13-32913903-T-A |
c.5411T>A |
p.Val1804Glu |
Missense |
11/27 |
- |
1 |
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 |
- |
2 |
13-32913910-A-G |
c.5418A>G |
p.Glu1806Glu |
Synonymous |
11/27 |
- |
5 |
13-32913910-A-C |
c.5418A>C |
p.Glu1806Asp |
Missense |
11/27 |
- |
2 |
13-32913915-T-C |
c.5423T>C |
p.Ile1808Thr |
Missense |
11/27 |
- |
1 |
13-32913919-C-T |
c.5427C>T |
p.Cys1809Cys |
Synonymous |
11/27 |
- |
1 |
13-32913920-G-A |
c.5428G>A |
p.Val1810Ile |
Missense |
11/27 |
- |
2 |
13-32913920-CG-C |
c.5428del |
p.Val1810Leufs*5 |
Frameshift |
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 |
- |
2 |
13-32913928-A-C |
c.5436A>C |
p.Glu1812Asp |
Missense |
11/27 |
- |
1 |
13-32913934-TGACT-T |
c.5442_5445del |
p.Thr1815Alafs*24 |
Frameshift |
11/27 |
- |
1 |
13-32913936-C-T |
c.5444C>T |
p.Thr1815Ile |
Missense |
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-A |
c.5455C>A |
p.Pro1819Thr |
Missense |
11/27 |
- |
2 |
13-32913947-C-T |
c.5455C>T |
p.Pro1819Ser |
Missense |
11/27 |
- |
10 |
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 |
- |
3 |
13-32913958-T-A |
c.5466T>A |
p.Asn1822Lys |
Missense |
11/27 |
- |
1 |
13-32913958-T-TT |
c.5466dup |
p.Lys1823* |
Nonsense |
11/27 |
- |
1 |
13-32913958-T-C |
c.5466T>C |
p.Asn1822Asn |
Synonymous |
11/27 |
- |
1 |
13-32913959-A-AT |
c.5467_5468insT |
p.Lys1823Ilefs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913960-A-AT |
c.5468_5469insT |
p.Lys1823Asnfs*6 |
Frameshift |
11/27 |
- |
1 |
13-32913962-AAATGCAGC-A |
c.5470_5477del |
p.Asn1824Hisfs*2 |
Frameshift |
11/27 |
- |
3 |
13-32913963-A-AA |
c.5471dup |
p.Asn1824Lysfs*5 |
Frameshift |
11/27 |
- |
2 |
13-32913963-AA-A |
c.5471del |
p.Asn1824Metfs*16 |
Frameshift |
11/27 |
- |
1 |
13-32913966-C-T |
c.5474C>T |
p.Ala1825Val |
Missense |
11/27 |
- |
1 |
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 |
- |
2 |
13-32913979-G-T |
c.5487G>T |
p.Leu1829Phe |
Missense |
11/27 |
- |
2 |
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 |
13-32913982-C-A |
c.5490C>A |
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 |
- |
5 |
13-32913987-C-G |
c.5495C>G |
p.Ser1832Cys |
Missense |
11/27 |
- |
1 |
13-32913988-CT-C |
c.5496del |
p.Asn1833Ilefs*7 |
Frameshift |
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 |
13-32913995-A-G |
c.5503A>G |
p.Asn1835Asp |
Missense |
11/27 |
- |
1 |
13-32914001-T-C |
c.5509T>C |
p.Phe1837Leu |
Missense |
11/27 |
- |
1 |
13-32914007-G-A |
c.5515G>A |
p.Val1839Ile |
Missense |
11/27 |
- |
1 |
13-32914010-G-C |
c.5518G>C |
p.Gly1840Arg |
Missense |
11/27 |
- |
1 |
13-32914011-G-T |
c.5519G>T |
p.Gly1840Val |
Missense |
11/27 |
- |
1 |
13-32914019-G-T |
c.5527G>T |
p.Ala1843Ser |
Missense |
11/27 |
- |
1 |
13-32914021-A-T |
c.5529A>T |
p.Ala1843Ala |
Synonymous |
11/27 |
- |
1 |
13-32914021-A-C |
c.5529A>C |
p.Ala1843Ala |
Synonymous |
11/27 |
- |
2 |
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 |
13-32914044-T-G |
c.5552T>G |
p.Ile1851Ser |
Missense |
11/27 |
- |
1 |
13-32914046-G-T |
c.5554G>T |
p.Val1852Phe |
Missense |
11/27 |
- |
4 |
13-32914046-G-C |
c.5554G>C |
p.Val1852Leu |
Missense |
11/27 |
- |
3 |
13-32914046-G-A |
c.5554G>A |
p.Val1852Ile |
Missense |
11/27 |
- |
3 |
13-32914049-TT-T |
c.5557del |
p.Cys1853Valfs*10 |
Frameshift |
11/27 |
- |
1 |
13-32914052-TGT-T |
c.5560_5561del |
p.Val1854Phefs*3 |
Frameshift |
11/27 |
- |
2 |
13-32914061-TGAAAC-T |
c.5569_5573del |
p.Glu1857Asnfs*2 |
Frameshift |
11/27 |
- |
3 |
13-32914061-G-T |
c.5569G>T |
p.Glu1857* |
Nonsense |
11/27 |
- |
5 |
13-32914061-TG-T |
c.5569del |
p.Glu1857Lysfs*6 |
Frameshift |
11/27 |
- |
3 |
13-32914064-A-G |
c.5572A>G |
p.Thr1858Ala |
Missense |
11/27 |
- |
1 |
13-32914065-ACAA-A |
c.5573_5575del |
p.Thr1858del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914068-ATTAA-A |
c.5576_5579del |
p.Ile1859Lysfs*3 |
Frameshift |
11/27 |
- |
52 |
13-32914068-TT-AG |
c.5576_5577delinsAG |
p.Ile1859Lys |
Missense |
11/27 |
- |
1 |
13-32914068-ATTAAA-A |
c.5576_5580del |
p.Ile1859Lysfs*12 |
Frameshift |
11/27 |
- |
4 |
13-32914069-TT-T |
c.5577del |
p.Val1862* |
Frameshift |
11/27 |
- |
1 |
13-32914070-A-T |
c.5578A>T |
p.Lys1860* |
Nonsense |
11/27 |
- |
1 |
13-32914070-A-G |
c.5578A>G |
p.Lys1860Glu |
Missense |
11/27 |
- |
2 |
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 |
- |
4 |
13-32914087-TAT-T |
c.5595_5596del |
p.Phe1866Tyrfs*6 |
Frameshift |
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-A |
c.5610C>A |
p.Phe1870Leu |
Missense |
11/27 |
- |
1 |
13-32914102-C-G |
c.5610C>G |
p.Phe1870Leu |
Missense |
11/27 |
- |
1 |
13-32914101-TC-AG |
c.5609_5610delinsAG |
p.Phe1870* |
Missense |
11/27 |
- |
10 |
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 |
- |
2 |
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 |
- |
11 |
13-32914113-ATTAA-A |
c.5621_5624del |
p.Ile1874Argfs*34 |
Frameshift |
11/27 |
- |
6 |
13-32914114-TTAAGGAA-T |
c.5622_5628del |
p.Lys1875Thrfs*32 |
Frameshift |
11/27 |
- |
1 |
13-32914116-A-C |
c.5624A>C |
p.Lys1875Thr |
Missense |
11/27 |
- |
1 |
13-32914117-G-C |
c.5625G>C |
p.Lys1875Asn |
Missense |
11/27 |
- |
1 |
13-32914117-G-T |
c.5625G>T |
p.Lys1875Asn |
Missense |
11/27 |
- |
1 |
13-32914118-G-A |
c.5626G>A |
p.Glu1876Lys |
Missense |
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-A |
c.5634C>A |
p.Asn1878Lys |
Missense |
11/27 |
- |
4 |
13-32914126-C-G |
c.5634C>G |
p.Asn1878Lys |
Missense |
11/27 |
- |
7 |
13-32914127-G-T |
c.5635G>T |
p.Glu1879* |
Nonsense |
11/27 |
- |
3 |
13-32914127-G-A |
c.5635G>A |
p.Glu1879Lys |
Missense |
11/27 |
- |
9 |
13-32914129-G-T |
c.5637G>T |
p.Glu1879Asp |
Missense |
11/27 |
- |
1 |
13-32914130-A-T |
c.5638A>T |
p.Asn1880Tyr |
Missense |
11/27 |
- |
1 |
13-32914132-T-G |
c.5640T>G |
p.Asn1880Lys |
Missense |
11/27 |
- |
13 |
13-32914133-TAAAT-T |
c.5641_5644del |
p.Lys1881Glnfs*27 |
Frameshift |
11/27 |
- |
4 |
13-32914136-ATCAA-A |
c.5644_5647del |
p.Ser1882Lysfs*26 |
Frameshift |
11/27 |
- |
2 |
13-32914137-C-G |
c.5645C>G |
p.Ser1882* |
Nonsense |
11/27 |
- |
26 |
13-32914137-C-A |
c.5645C>A |
p.Ser1882* |
Nonsense |
11/27 |
- |
58 |
13-32914142-AATTTGCCAAA-A |
c.5650_5659del |
p.Ile1884Argfs*22 |
Frameshift |
11/27 |
- |
1 |
13-32914147-C-T |
c.5655C>T |
p.Cys1885Cys |
Synonymous |
11/27 |
- |
1 |
13-32914147-C-A |
c.5655C>A |
p.Cys1885* |
Nonsense |
11/27 |
- |
1 |
13-32914148-C-T |
c.5656C>T |
p.Gln1886* |
Nonsense |
11/27 |
- |
3 |
13-32914151-A-G |
c.5659A>G |
p.Thr1887Ala |
Missense |
11/27 |
- |
2 |
13-32914152-C-G |
c.5660C>G |
p.Thr1887Arg |
Missense |
11/27 |
- |
1 |
13-32914152-C-T |
c.5660C>T |
p.Thr1887Met |
Missense |
11/27 |
- |
1 |
13-32914159-TT-T |
c.5667del |
p.Met1890Trpfs*19 |
Frameshift |
11/27 |
- |
1 |
13-32914160-A-G |
c.5668A>G |
p.Met1890Val |
Missense |
11/27 |
- |
2 |
13-32914161-ATGGCA-A |
c.5669_5673del |
p.Met1890Argfs*8 |
Frameshift |
11/27 |
- |
2 |
13-32914161-ATGGCAGGTTGTTA-A |
c.5669_5681del |
p.Met1890Thrfs*15 |
Frameshift |
11/27 |
- |
1 |
13-32914163-G-A |
c.5671G>A |
p.Ala1891Thr |
Missense |
11/27 |
- |
1 |
13-32914167-GG-G |
c.5675del |
p.Gly1892Valfs*17 |
Frameshift |
11/27 |
- |
1 |
13-32914173-A-AA |
c.5681dup |
p.Tyr1894* |
Nonsense |
11/27 |
- |
10 |
13-32914174-C-CA |
c.5682_5683insA |
p.Glu1895Argfs*5 |
Frameshift |
11/27 |
- |
3 |
13-32914174-C-A |
c.5682C>A |
p.Tyr1894* |
Nonsense |
11/27 |
- |
24 |
13-32914174-AC-A |
c.5682del |
p.Tyr1894* |
Frameshift |
11/27 |
- |
1 |
13-32914174-C-G |
c.5682C>G |
p.Tyr1894* |
Nonsense |
11/27 |
- |
48 |
13-32914174-C-T |
c.5682C>T |
p.Tyr1894Tyr |
Synonymous |
11/27 |
- |
3 |
13-32914175-G-C |
c.5683G>C |
p.Glu1895Gln |
Missense |
11/27 |
- |
3 |
13-32914175-G-A |
c.5683G>A |
p.Glu1895Lys |
Missense |
11/27 |
- |
6 |
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-TCA-T |
c.5699_5700del |
p.Ser1900* |
Frameshift |
11/27 |
- |
1 |
13-32914191-C-G |
c.5699C>G |
p.Ser1900* |
Nonsense |
11/27 |
- |
3 |
13-32914192-A-AT |
c.5700_5701insT |
p.Glu1901* |
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 |
13-32914195-G-GT |
c.5703_5704insT |
p.Asp1902* |
Nonsense |
11/27 |
- |
1 |
13-32914196-GAT-AAG |
c.5704_5706delinsAAG |
p.Asp1902Lys |
Missense |
11/27 |
- |
1 |
13-32914196-G-A |
c.5704G>A |
p.Asp1902Asn |
Missense |
11/27 |
- |
9 |
13-32914196-G-T |
c.5704G>T |
p.Asp1902Tyr |
Missense |
11/27 |
- |
3 |
13-32914197-A-C |
c.5705A>C |
p.Asp1902Ala |
Missense |
11/27 |
- |
1 |
13-32914199-A-AA |
c.5707dup |
p.Ile1903Asnfs*4 |
Frameshift |
11/27 |
- |
1 |
13-32914200-T-C |
c.5708T>C |
p.Ile1903Thr |
Missense |
11/27 |
- |
2 |
13-32914202-C-G |
c.5710C>G |
p.Leu1904Val |
Missense |
11/27 |
- |
9 |
13-32914205-C-T |
c.5713C>T |
p.His1905Tyr |
Missense |
11/27 |
- |
1 |
13-32914206-A-T |
c.5714A>T |
p.His1905Leu |
Missense |
11/27 |
- |
2 |
13-32914206-A-G |
c.5714A>G |
p.His1905Arg |
Missense |
11/27 |
- |
3 |
13-32914207-T-TT |
c.5715dup |
p.Asn1906* |
Nonsense |
11/27 |
- |
3 |
13-32914212-TCTCT-T |
c.5720_5723del |
p.Ser1907* |
Frameshift |
11/27 |
- |
4 |
13-32914214-TCT-T |
c.5722_5723del |
p.Leu1908Argfs*2 |
Frameshift |
11/27 |
- |
48 |
13-32914214-C-G |
c.5722C>G |
p.Leu1908Val |
Missense |
11/27 |
- |
2 |
13-32914215-T-G |
c.5723T>G |
p.Leu1908Arg |
Missense |
11/27 |
- |
2 |
13-32914215-T-C |
c.5723T>C |
p.Leu1908Pro |
Missense |
11/27 |
- |
1 |
13-32914219-T-TG |
c.5727_5728insG |
p.Asn1910Glufs*2 |
Frameshift |
11/27 |
- |
3 |
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 |
13-32914223-G-A |
c.5731G>A |
p.Asp1911Asn |
Missense |
11/27 |
- |
1 |
13-32914224-A-T |
c.5732A>T |
p.Asp1911Val |
Missense |
11/27 |
- |
1 |
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 |
- |
2 |
13-32914228-AA-A |
c.5736del |
p.Glu1912Aspfs*51 |
Frameshift |
11/27 |
- |
1 |
13-32914229-T-G |
c.5737T>G |
p.Cys1913Gly |
Missense |
11/27 |
- |
3 |
13-32914229-T-C |
c.5737T>C |
p.Cys1913Arg |
Missense |
11/27 |
- |
3 |
13-32914233-G-A |
c.5741G>A |
p.Ser1914Asn |
Missense |
11/27 |
- |
1 |
13-32914233-G-C |
c.5741G>C |
p.Ser1914Thr |
Missense |
11/27 |
- |
1 |
13-32914233-G-T |
c.5741G>T |
p.Ser1914Ile |
Missense |
11/27 |
- |
1 |
13-32914236-C-T |
c.5744C>T |
p.Thr1915Met |
Missense |
11/27 |
- |
65 |
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 |
13-32914243-CACATAAGGTTTTTGCTGACATTCAGAGTGAAGAAATTTTACAACATAACCAAAATATGT-C |
c.5751_5809del |
p.His1918Trpfs*7 |
Frameshift |
11/27 |
- |
2 |
13-32914244-C-T |
c.5752C>T |
p.His1918Tyr |
Missense |
11/27 |
- |
6 |
13-32914244-ACAT-A |
c.5752_5754del |
p.His1918del |
InFrameDeletion |
11/27 |
- |
1 |
13-32914245-CA-C |
c.5753del |
p.His1918Leufs*45 |
Frameshift |
11/27 |
- |
4 |
13-32914245-A-G |
c.5753A>G |
p.His1918Arg |
Missense |
11/27 |
- |
2 |
13-32914246-T-TT |
c.5754dup |
p.Lys1919* |
Nonsense |
11/27 |
- |
1 |
13-32914246-ATA-A |
c.5754_5755del |
p.His1918Glnfs*5 |
Frameshift |
11/27 |
- |
2 |
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 |
- |
3 |
13-32914256-G-C |
c.5764G>C |
p.Ala1922Pro |
Missense |
11/27 |
- |
1 |
13-32914257-C-A |
c.5765C>A |
p.Ala1922Asp |
Missense |
11/27 |
- |
1 |
13-32914259-G-C |
c.5767G>C |
p.Asp1923His |
Missense |
11/27 |
- |
1 |
13-32914260-A-C |
c.5768A>C |
p.Asp1923Ala |
Missense |
11/27 |
- |
7 |
13-32914260-A-T |
c.5768A>T |
p.Asp1923Val |
Missense |
11/27 |
- |
2 |
13-32914263-ATTCA-A |
c.5771_5774del |
p.Ile1924Argfs*38 |
Frameshift |
11/27 |
- |
8 |
13-32914265-C-T |
c.5773C>T |
|