BRCA2 BRCA2 DNA repair associated

Canonical transcript: NM_000059

3305 unique variant annotations were identified in 1377 publications
Gene-Specific Resource Links:
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Entrez
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COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
13-32889647-A-C c.-197A>C - 5_prime_UTR_variant 1/27 - 1
13-32889669-C-T c.-175C>T - 5_prime_UTR_variant 1/27 - 1
13-32889792-A-G c.-52A>G - 5_prime_UTR_variant 1/27 - 5
13-32889792-A-C c.-52A>C - 5_prime_UTR_variant 1/27 - 5
13-32889829-G-C c.-40+25G>C - intron_variant - 1/26 1
13-32889968-G-A c.-40+164G>A - intron_variant - 1/26 4
13-32890026-C-A c.-40+222C>A - intron_variant - 1/26 4
13-32890026-C-T c.-40+222C>T - intron_variant - 1/26 4
13-32890110-G-A c.-40+306G>A - IntronicSNV - 1/26 1
13-32890190-T-A c.-39-369T>A - IntronicSNV - 1/26 1
13-32890227-G-A c.-39-332G>A - IntronicSNV - 1/26 5
13-32890227-G-T c.-39-332G>T - IntronicSNV - 1/26 5
13-32890311-C-T c.-39-248C>T - IntronicSNV - 1/26 2
13-32890378-G-T c.-39-181G>T - IntronicSNV - 1/26 1
13-32890465-T-G c.-39-94T>G - IntronicSNV - 1/26 1
13-32890495-T-C c.-39-64T>C - IntronicSNV - 1/26 1
13-32890511-T-G c.-39-48T>G - IntronicSNV - 1/26 1
13-32890572-G-T c.-26G>T - 5-UTRSNV 2/27 - 12
13-32890572-G-A c.-26G>A - 5-UTRSNV 2/27 - 25
13-32890572-G-C c.-26G>C - 5-UTRSNV 2/27 - 12
13-32890598-A-G c.1A>G p.Met1? Missense 2/27 - 1
13-32890599-T-G c.2T>G p.Met1? Missense 2/27 - 4
13-32890599-T-C c.2T>C p.Met1? Missense 2/27 - 2
13-32890599-T-A c.2T>A p.Met1? Missense 2/27 - 1
13-32890600-G-A c.3G>A p.Met1? Missense 2/27 - 7
13-32890607-G-T c.10G>T p.Gly4* Nonsense 2/27 - 1
13-32890615-AAGAGAGGCCAA-A c.18_28del p.Lys6Asnfs*4 Frameshift 2/27 - 1
13-32890616-G-C c.19G>C p.Glu7Gln Missense 2/27 - 1
13-32890616-G-T c.19G>T p.Glu7* Nonsense 2/27 - 1
13-32890618-AGAGGCCAACATTTTTTGAAATTTTTAAGA-A c.21_49del p.Glu7Aspfs*14 Frameshift 2/27 - 1
13-32890619-GAG-G c.22_23del p.Arg8Alafs*5 Frameshift 2/27 - 2
13-32890623-CC-C c.26del p.Pro9Glnfs*16 Frameshift 2/27 - 2
13-32890623-C-T c.26C>T p.Pro9Leu Missense 2/27 - 1
13-32890626-C-A c.29C>A p.Thr10Lys Missense 2/27 - 1
13-32890628-TT-CG c.31_32delinsCG p.Phe11Arg Missense 2/27 - 6
13-32890631-TTT-AAG c.34_36delinsAAG p.Phe12Lys Missense 2/27 - 3
13-32890631-T-G c.34T>G p.Phe12Val Missense 2/27 - 1
13-32890633-TT-T c.36del p.Phe12Leufs*13 Frameshift 2/27 - 1
13-32890634-TGAAATTTT-T c.37_44del p.Glu13* Frameshift 2/27 - 1
13-32890638-ATTTTTAAGACACGCTGCAACAAAGCAGGTATTGACA-A c.41_67+9del - SpliceDonorDeletion 2/27 2/26 1
13-32890640-TT-GA c.43_44delinsGA p.Phe15Asp Missense 2/27 - 1
13-32890641-T-TATT c.44_45insATT p.Ile14_Phe15insLeu InFrameInsertion 2/27 - 1
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A c.50_67+41del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/27 2/26 1
13-32890648-CAC-C c.51_52del p.Arg18Leufs*12 Frameshift 2/27 - 2
13-32890648-A-AA c.51dup p.Arg18Thrfs*13 Frameshift 2/27 - 1
13-32890649-C-T c.52C>T p.Arg18Cys Missense 2/27 - 1
13-32890649-C-CA c.52_53insA p.Arg18Glnfs*13 Frameshift 2/27 - 1
13-32890650-G-A c.53G>A p.Arg18His Missense 2/27 - 7
13-32890655-AAC-TAA c.58_60delinsTAA p.Asn20* Nonsense 2/27 - 1
13-32890657-ACAA-A c.60_62del p.Asn20del InFrameDeletion 2/27 - 1
13-32890659-A-G c.62A>G p.Lys21Arg Missense 2/27 - 2
13-32890662-C-T c.65C>T p.Ala22Val Missense 2/27 - 1
13-32890663-CAG-C c.66_67del p.Asp23Phefs*7 SpliceDonorDeletion 2/27 - 5
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-A c.67G>A p.Asp23Asn Missense 2/27 - 2
13-32890664-G-C c.67G>C p.Asp23His Missense 2/27 - 1
13-32890665-G-A c.67+1G>A - IntronicSNV - 2/26 3
13-32890665-G-T c.67+1G>T - IntronicSNV - 2/26 1
13-32890666-T-C c.67+2T>C - IntronicSNV - 2/26 3
13-32890667-A-G c.67+3A>G - IntronicSNV - 2/26 2
13-32890721-A-C c.67+57A>C - IntronicSNV - 2/26 1
13-32890726-T-G c.67+62T>G - IntronicSNV - 2/26 1
13-32890746-C-G c.67+82C>G - IntronicSNV - 2/26 1
13-32891706-A-G c.67+1042A>G - IntronicSNV - 2/26 2
13-32891706-A-C c.67+1042A>C - IntronicSNV - 2/26 2
13-32891798-T-C c.67+1134T>C - IntronicSNV - 2/26 3
13-32892290-ATAACTCATGCAAATGTGCCAGCAGTTTTACCCAGCATCATCTTTGCACTGTTGATACAA-A c.68-924_68-866del - Unclassified - 2/26 1
13-32893193-T-G c.68-21T>G - IntronicSNV - 2/26 1
13-32893207-T-TT c.68-7dup - IntronicInsertion - 2/26 1
13-32893207-T-A c.68-7T>A - IntronicSNV - 2/26 13
13-32893207-TT-T c.68-7del - IntronicDeletion - 2/26 4
13-32893209-A-G c.68-5A>G - IntronicSNV - 2/26 1
13-32893210-A-T c.68-4A>T - IntronicSNV - 2/26 1
13-32893213-G-C c.68-1G>C - IntronicSNV - 2/26 1
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G c.69_127del p.Asp23Glufs*3 Unclassified 3/27 - 1
13-32893214-GAT-G c.68_69del p.Asp23Valfs*7 SpliceAcceptorDeletion 3/27 - 2
13-32893217-T-A c.71T>A p.Leu24* Nonsense 3/27 - 1
13-32893217-T-TGTCT c.71_72insGTCT p.Gly25Serfs*7 Frameshift 3/27 - 1
13-32893218-TA-T c.72del p.Gly25Aspfs*3 Frameshift 3/27 - 1
13-32893218-A-T c.72A>T p.Leu24Phe Missense 3/27 - 2
13-32893219-G-A c.73G>A p.Gly25Arg Missense 3/27 - 14
13-32893225-ATA-TGT c.79_81delinsTGT p.Ile27Cys Missense 3/27 - 1
13-32893225-A-G c.79A>G p.Ile27Val Missense 3/27 - 4
13-32893229-AGT-A c.83_84del p.Ser28Thrfs*2 Frameshift 3/27 - 1
13-32893235-A-AA c.89dup p.Asn30Lysfs*4 Frameshift 3/27 - 1
13-32893237-T-G c.91T>G p.Trp31Gly Missense 3/27 - 4
13-32893237-T-C c.91T>C p.Trp31Arg Missense 3/27 - 10
13-32893239-G-A c.93G>A p.Trp31* Nonsense 3/27 - 3
13-32893238-G-A c.92G>A p.Trp31* Nonsense 3/27 - 4
13-32893239-G-T c.93G>T p.Trp31Cys Missense 3/27 - 14
13-32893243-G-A c.97G>A p.Glu33Lys Missense 3/27 - 1
13-32893245-A-G c.99A>G p.Glu33Glu Synonymous 3/27 - 1
13-32893250-T-C c.104T>C p.Leu35Pro Missense 3/27 - 1
13-32893256-C-T c.110C>T p.Ser37Leu Missense 3/27 - 1
13-32893258-G-A c.112G>A p.Glu38Lys Missense 3/27 - 2
13-32893261-AG-A c.115del p.Ala39Leufs*41 Frameshift 3/27 - 2
13-32893266-A-AA c.120dup p.Pro41Thrfs*3 Frameshift 3/27 - 1
13-32893268-C-T c.122C>T p.Pro41Leu Missense 3/27 - 1
13-32893271-A-G c.125A>G p.Tyr42Cys Missense 3/27 - 29
13-32893276-T-TA c.130_131insA p.Ser44Tyrfs*2 Frameshift 3/27 - 1
13-32893288-G-A c.142G>A p.Glu48Lys Missense 3/27 - 1
13-32893289-A-G c.143A>G p.Glu48Gly Missense 3/27 - 1
13-32893290-A-G c.144A>G p.Glu48Glu Synonymous 3/27 - 1
13-32893291-G-T c.145G>T p.Glu49* Nonsense 3/27 - 16
13-32893300-CA-AG c.154_155delinsAG p.His52Ser Missense 3/27 - 2
13-32893307-A-AA c.161dup p.Asn54Lysfs*10 Frameshift 3/27 - 38
13-32893307-AA-A c.161del p.Asn54Thrfs*26 Frameshift 3/27 - 1
13-32893310-A-G c.164A>G p.Asn55Ser Missense 3/27 - 1
13-32893311-AC-A c.165del p.Asn55Lysfs*25 Frameshift 3/27 - 1
13-32893311-ACAA-A c.165_167del p.Asn56del InFrameDeletion 3/27 - 1
13-32893313-A-C c.167A>C p.Asn56Thr Missense 3/27 - 2
13-32893317-C-G c.171C>G p.Tyr57* Nonsense 3/27 - 1
13-32893317-AC-A c.171del p.Tyr57* Frameshift 3/27 - 1
13-32893318-G-A c.172G>A p.Glu58Lys Missense 3/27 - 1
13-32893318-G-T c.172G>T p.Glu58* Nonsense 3/27 - 1
13-32893319-A-C c.173A>C p.Glu58Ala Missense 3/27 - 1
13-32893321-CC-TA c.175_176delinsTA p.Pro59* Nonsense 3/27 - 2
13-32893325-A-G c.179A>G p.Asn60Ser Missense 3/27 - 2
13-32893328-T-C c.182T>C p.Leu61Pro Missense 3/27 - 1
13-32893328-CT-C c.182del p.Leu61Hisfs*19 Frameshift 3/27 - 1
13-32893330-TTT-GAG c.184_186delinsGAG p.Phe62Glu Missense 3/27 - 2
13-32893334-A-G c.188A>G p.Lys63Arg Missense 3/27 - 2
13-32893336-A-AA c.190dup p.Thr64Asnfs*9 Frameshift 3/27 - 1
13-32893336-A-ATGATTCTA c.190_191insTGATTCTA p.Thr64Metfs*19 Frameshift 3/27 - 1
13-32893337-C-T c.191C>T p.Thr64Ile Missense 3/27 - 1
13-32893342-C-T c.196C>T p.Gln66* Nonsense 3/27 - 1
13-32893344-A-G c.198A>G p.Gln66Gln Synonymous 3/27 - 1
13-32893346-AGGAAACCATCTTA-A c.200_212del p.Arg67Ilefs*9 Frameshift 3/27 - 1
13-32893352-C-T c.206C>T p.Pro69Leu Missense 3/27 - 1
13-32893357-TT-T c.211del p.Tyr71Ilefs*9 Frameshift 3/27 - 1
13-32893361-A-G c.215A>G p.Asn72Ser Missense 3/27 - 2
13-32893368-G-T c.222G>T p.Leu74Leu Synonymous 3/27 - 1
13-32893368-G-C c.222G>C p.Leu74Leu Synonymous 3/27 - 1
13-32893368-G-A c.222G>A p.Leu74Leu Synonymous 3/27 - 1
13-32893366-C-T c.220C>T p.Leu74Leu Synonymous 3/27 - 1
13-32893369-GC-TG c.223_224delinsTG p.Ala75Cys Missense 3/27 - 1
13-32893369-G-C c.223G>C p.Ala75Pro Missense 3/27 - 13
13-32893373-C-G c.227C>G p.Ser76* Nonsense 3/27 - 1
13-32893373-C-A c.227C>A p.Ser76* Nonsense 3/27 - 1
13-32893375-A-G c.229A>G p.Thr77Ala Missense 3/27 - 2
13-32893377-T-G c.231T>G p.Thr77Thr Synonymous 3/27 - 3
13-32893390-A-T c.244A>T p.Lys82* Nonsense 3/27 - 1
13-32893392-A-AA c.246dup p.Glu83Argfs*18 Frameshift 3/27 - 1
13-32893396-C-T c.250C>T p.Gln84* Nonsense 3/27 - 5
13-32893408-TCT-T c.262_263del p.Leu88Alafs*12 Frameshift 3/27 - 7
13-32893412-C-T c.266C>T p.Pro89Leu Missense 3/27 - 1
13-32893413-G-A c.267G>A p.Pro89Pro Synonymous 3/27 - 1
13-32893419-C-G c.273C>G p.Tyr91* Nonsense 3/27 - 1
13-32893419-C-A c.273C>A p.Tyr91* Nonsense 3/27 - 1
13-32893420-C-T c.274C>T p.Gln92* Nonsense 3/27 - 2
13-32893421-A-G c.275A>G p.Gln92Arg Missense 3/27 - 1
13-32893422-A-AA c.276dup p.Ser93Ilefs*8 Frameshift 3/27 - 4
13-32893423-ATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGT-A c.277_316+19del - SpliceDonorDeletion 3/27 3/26 1
13-32893426-C-T c.280C>T p.Pro94Ser Missense 3/27 - 2
13-32893435-GAA-TGT c.289_291delinsTGT p.Glu97Cys Missense 3/27 - 1
13-32893435-G-T c.289G>T p.Glu97* Nonsense 3/27 - 3
13-32893436-A-T c.290A>T p.Glu97Val Missense 3/27 - 1
13-32893439-T-A c.293T>A p.Leu98* Nonsense 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-AA-A c.306del p.Lys102Asnfs*2 Frameshift 3/27 - 1
13-32893452-A-AA c.306dup p.Leu103Ilefs*10 Frameshift 3/27 - 3
13-32893453-T-A c.307T>A p.Leu103Ile Missense 3/27 - 1
13-32893456-G-C c.310G>C p.Asp104His Missense 3/27 - 1
13-32893456-G-A c.310G>A p.Asp104Asn Missense 3/27 - 1
13-32893459-CTTA-C c.313_315del p.Leu105del InFrameDeletion 3/27 - 1
13-32893460-T-G c.314T>G p.Leu105* Nonsense 3/27 - 1
13-32893460-T-A c.314T>A p.Leu105* Nonsense 3/27 - 1
13-32893463-G-T c.316+1G>T - IntronicSNV - 3/26 1
13-32893464-T-C c.316+2T>C - IntronicSNV - 3/26 1
13-32893466-AA-A c.316+4del - IntronicDeletion - 3/26 2
13-32893467-G-C c.316+5G>C - IntronicSNV - 3/26 5
13-32893467-G-A c.316+5G>A - IntronicSNV - 3/26 1
13-32893471-T-A c.316+9T>A - IntronicSNV - 3/26 1
13-32893495-C-G c.316+33C>G - IntronicSNV - 3/26 1
13-32893535-A-G c.316+73A>G - IntronicSNV - 3/26 1
13-32893583-T-C c.316+121T>C - IntronicSNV - 3/26 1
13-32893791-A-G c.316+329A>G - IntronicSNV - 3/26 3
13-32894484-G-A c.316+1022G>A - IntronicSNV - 3/26 1
13-32895377-G-C c.316+1915G>C - IntronicSNV - 3/26 1
13-32896846-G-A c.317-2367G>A - IntronicSNV - 3/26 2
13-32899159-C-G c.317-54C>G - IntronicSNV - 3/26 1
13-32899216-G-C c.320G>C p.Arg107Thr Missense 4/27 - 1
13-32899219-A-G c.323A>G p.Asn108Ser Missense 4/27 - 1
13-32899224-C-T c.328C>T p.Pro110Ser Missense 4/27 - 1
13-32899224-C-G c.328C>G p.Pro110Ala Missense 4/27 - 3
13-32899227-AA-GC c.331_332delinsGC p.Asn111Ala Missense 4/27 - 1
13-32899233-AG-GC c.337_338delinsGC p.Arg113Ala Missense 4/27 - 1
13-32899240-A-C c.344A>C p.Lys115Thr Missense 4/27 - 1
13-32899247-TTC-T c.351_352del p.Arg118Hisfs*5 Frameshift 4/27 - 1
13-32899249-G-A c.353G>A p.Arg118His Missense 4/27 - 3
13-32899251-A-G c.355A>G p.Thr119Ala Missense 4/27 - 1
13-32899262-T-TT c.366dup p.Lys123* Nonsense 4/27 - 1
13-32899266-AA-A c.370del p.Met124Trpfs*12 Frameshift 4/27 - 1
13-32899269-G-T c.373G>T p.Asp125Tyr Missense 4/27 - 1
13-32899270-A-G c.374A>G p.Asp125Gly Missense 4/27 - 1
13-32899275-G-A c.379G>A p.Ala127Thr Missense 4/27 - 1
13-32899275-G-T c.379G>T p.Ala127Ser Missense 4/27 - 1
13-32899279-A-G c.383A>G p.Asp128Gly Missense 4/27 - 1
13-32899282-A-G c.386A>G p.Asp129Gly Missense 4/27 - 1
13-32899284-G-A c.388G>A p.Val130Ile Missense 4/27 - 1
13-32899285-GTTTCCTGTCCACTTCTAA-G c.389_406del p.Val130_Asn136delinsAsp MultiAAMissense 4/27 - 1
13-32899291-G-C c.395G>C p.Cys132Ser Missense 4/27 - 1
13-32899290-T-A c.394T>A p.Cys132Ser Missense 4/27 - 1
13-32899297-CTT-C c.401_402del p.Leu134Profs*6 Frameshift 4/27 - 1
13-32899301-TAAATTCTTGTCT-T c.405_416del p.Asn136_Leu139del InFrameDeletion 4/27 - 1
13-32899303-AA-A c.407del p.Asn136Ilefs*16 Frameshift 4/27 - 2
13-32899311-C-A c.415C>A p.Leu139Ile Missense 4/27 - 1
13-32899312-T-C c.416T>C p.Leu139Pro Missense 4/27 - 1
13-32899321-G-A c.425G>A p.Ser142Asn Missense 4/27 - 1
13-32899321-G-T c.425G>T p.Ser142Ile Missense 4/27 - 2
13-32899323-T-C c.425+2T>C - IntronicSNV - 4/26 1
13-32899350-T-C c.425+29T>C - IntronicSNV - 4/26 1
13-32899354-A-G c.425+33A>G - IntronicSNV - 4/26 1
13-32899388-A-C c.425+67A>C - IntronicSNV - 4/26 3
13-32900149-T-C c.426-89T>C - IntronicSNV - 4/26 4
13-32900181-A-G c.426-57A>G - IntronicSNV - 4/26 1
13-32900226-TGTTTT-T c.426-12_426-8del - IntronicDeletion - 4/26 1
13-32900236-A-T c.426-2A>T - IntronicSNV - 4/26 1
13-32900236-A-G c.426-2A>G - IntronicSNV - 4/26 1
13-32900238-GT-G c.426del p.Pro143Leufs*9 Frameshift 5/27 - 1
13-32900242-G-T c.430G>T p.Val144Phe Missense 5/27 - 1
13-32900245-TGTT-T c.433_435del p.Val145del InFrameDeletion 5/27 - 2
13-32900251-C-T c.439C>T p.Gln147* Nonsense 5/27 - 1
13-32900252-A-G c.440A>G p.Gln147Arg Missense 5/27 - 8
13-32900254-T-C c.442T>C p.Cys148Arg Missense 5/27 - 1
13-32900257-A-C c.445A>C p.Thr149Pro Missense 5/27 - 1
13-32900266-ACA-TGT c.454_456inv p.Thr152Cys Missense 5/27 - 1
13-32900274-AAA-A c.462_463del p.Asp156* Frameshift 5/27 - 4
13-32900276-G-A c.464G>A p.Arg155Lys Missense 5/27 - 1
13-32900276-G-C c.464G>C p.Arg155Thr Missense 5/27 - 1
13-32900276-AGAGAT-A c.464_468del p.Arg155Lysfs*26 Frameshift 5/27 - 2
13-32900279-A-G c.467A>G p.Asp156Gly Missense 5/27 - 1
13-32900280-T-TT c.468dup p.Lys157* Nonsense 5/27 - 2
13-32900280-T-G c.468T>G p.Asp156Glu Missense 5/27 - 2
13-32900281-TAA-T c.469_470del p.Lys157Valfs*25 Frameshift 5/27 - 4
13-32900281-A-T c.469A>T p.Lys157* Nonsense 5/27 - 2
13-32900282-AAGTCA-A c.470_474del p.Lys157Serfs*24 SpliceDonorDeletion 5/27 - 6
13-32900284-T-G c.472T>G p.Ser158Ala Missense 5/27 - 1
13-32900284-TCA-GAC c.472_474delinsGAC p.Ser158Asp Missense 5/27 - 1
13-32900285-C-A c.473C>A p.Ser158* Nonsense 5/27 - 1
13-32900286-A-AT c.474_475insT p.Val159Cysfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AC c.474_475insC p.Val159Argfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AA c.474dup p.Val159Serfs*24 SpliceDonorInsertion 5/27 - 1
13-32900287-G-A c.475G>A p.Val159Met Missense 5/27 - 5
13-32900288-G-T c.475+1G>T - IntronicSNV - 5/26 2
13-32900288-G-A c.475+1G>A - IntronicSNV - 5/26 4
13-32900290-A-G c.475+3A>G - IntronicSNV - 5/26 1
13-32900376-C-A c.476-3C>A - IntronicSNV - 5/26 1
13-32900377-A-G c.476-2A>G - IntronicSNV - 5/26 3
13-32900378-G-A c.476-1G>A - IntronicSNV - 5/26 1
13-32900379-T-A c.476T>A p.Val159Glu Missense 6/27 - 1
13-32900379-T-C c.476T>C p.Val159Ala Missense 6/27 - 1
13-32900385-G-A c.482G>A p.Cys161Tyr Missense 6/27 - 1
13-32900386-T-G c.483T>G p.Cys161Trp Missense 6/27 - 2
13-32900386-T-A c.483T>A p.Cys161* Nonsense 6/27 - 1
13-32900389-GG-G c.486del p.Ser163Valfs*9 Frameshift 6/27 - 1
13-32900390-GAG-G c.487_488del p.Ser163Phefs*19 Frameshift 6/27 - 1
13-32900391-AGT-A c.488_489del p.Ser163Ilefs*19 Frameshift 6/27 - 1
13-32900393-T-TAAATGCTT c.490_491insAAATGCTT p.Leu164* Nonsense 6/27 - 1
13-32900394-T-A c.491T>A p.Leu164* Nonsense 6/27 - 1
13-32900395-G-T c.492G>T p.Leu164Phe Missense 6/27 - 1
13-32900399-C-T c.496C>T p.His166Tyr Missense 6/27 - 1
13-32900399-C-A c.496C>A p.His166Asn Missense 6/27 - 1
13-32900405-C-G c.502C>G p.Pro168Ala Missense 6/27 - 1
13-32900405-C-A c.502C>A p.Pro168Thr Missense 6/27 - 5
13-32900419-G-A c.516G>A p.Lys172Lys Synonymous 6/27 - 2
13-32900420-G-T c.516+1G>T - IntronicSNV - 6/26 6
13-32900420-G-C c.516+1G>C - IntronicSNV - 6/26 2
13-32900420-G-A c.516+1G>A - IntronicSNV - 6/26 2
13-32900421-T-C c.516+2T>C - IntronicSNV - 6/26 1
13-32900422-A-T c.516+3A>T - IntronicSNV - 6/26 1
13-32900433-C-T c.516+14C>T - IntronicSNV - 6/26 2
13-32900617-C-T c.517-19C>T - IntronicSNV - 6/26 1
13-32900632-C-G c.517-4C>G - IntronicSNV - 6/26 1
13-32900634-A-G c.517-2A>G - IntronicSNV - 6/26 6
13-32900635-G-A c.517-1G>A - IntronicSNV - 6/26 2
13-32900636-G-T c.517G>T p.Gly173Cys Missense 7/27 - 2
13-32900637-G-T c.518G>T p.Gly173Val Missense 7/27 - 3
13-32900637-GG-G c.518del p.Gly173Valfs*12 Frameshift 7/27 - 2
13-32900639-C-T c.520C>T p.Arg174Cys Missense 7/27 - 3
13-32900640-G-A c.521G>A p.Arg174His Missense 7/27 - 1
13-32900652-A-G c.533A>G p.Lys178Arg Missense 7/27 - 2
13-32900653-A-AA c.534dup p.His179Thrfs*4 Frameshift 7/27 - 1
13-32900655-A-G c.536A>G p.His179Arg Missense 7/27 - 2
13-32900658-T-TA c.539_540insA p.Ser181Phefs*2 Frameshift 7/27 - 1
13-32900660-TCT-GAG c.541_543delinsGAG p.Ser181Glu Missense 7/27 - 1
13-32900666-AA-A c.547del p.Ser183Valfs*2 Frameshift 7/27 - 1
13-32900669-CTA-TGG c.550_552delinsTGG p.Leu184Trp Missense 7/27 - 2
13-32900670-T-C c.551T>C p.Leu184Pro Missense 7/27 - 1
13-32900673-G-C c.554G>C p.Gly185Ala Missense 7/27 - 1
13-32900680-G-T c.561G>T p.Glu187Asp Missense 7/27 - 1
13-32900683-G-T c.564G>T p.Val188Val Synonymous 7/27 - 1
13-32900688-C-T c.569C>T p.Pro190Leu Missense 7/27 - 1
13-32900691-A-T c.572A>T p.Asp191Val Missense 7/27 - 1
13-32900693-TAT-T c.574_575del p.Met192Valfs*13 Frameshift 7/27 - 1
13-32900694-T-C c.575T>C p.Met192Thr Missense 7/27 - 3
13-32900696-T-G c.577T>G p.Ser193Ala Missense 7/27 - 3
13-32900701-G-A c.582G>A p.Trp194* Nonsense 7/27 - 7
13-32900700-G-A c.581G>A p.Trp194* Nonsense 7/27 - 4
13-32900706-G-A c.587G>A p.Ser196Asn Missense 7/27 - 1
13-32900706-G-T c.587G>T p.Ser196Ile Missense 7/27 - 2
13-32900713-A-G c.594A>G p.Leu198Leu Synonymous 7/27 - 1
13-32900711-T-C c.592T>C p.Leu198Leu Synonymous 7/27 - 1
13-32900718-C-A c.599C>A p.Thr200Lys Missense 7/27 - 1
13-32900718-C-T c.599C>T p.Thr200Ile Missense 7/27 - 4
13-32900719-A-AA c.600dup p.Pro201Thrfs*5 Frameshift 7/27 - 1
13-32900723-C-G c.604C>G p.Pro202Ala Missense 7/27 - 1
13-32900726-AC-TA c.607_608delinsTA p.Thr203Tyr Missense 7/27 - 1
13-32900726-AC-TT c.607_608delinsTT p.Thr203Phe Missense 7/27 - 1
13-32900733-AG-A c.614del p.Ser205Ilefs*6 Frameshift 7/27 - 2
13-32900736-C-G c.617C>G p.Ser206Cys Missense 7/27 - 2
13-32900738-AC-GA c.619_620delinsGA p.Thr207Asp Missense 7/27 - 1
13-32900738-A-G c.619A>G p.Thr207Ala Missense 7/27 - 2
13-32900742-T-G c.623T>G p.Val208Gly Missense 7/27 - 2
13-32900750-G-A c.631G>A p.Val211Ile Missense 7/27 - 7
13-32900750-G-C c.631G>C p.Val211Leu Missense 7/27 - 2
13-32900752-T-G c.631+2T>G - IntronicSNV - 7/26 5
13-32900753-A-G c.631+3A>G - IntronicSNV - 7/26 2
13-32900754-A-G c.631+4A>G - IntronicSNV - 7/26 1
13-32900775-C-T c.631+25C>T - IntronicSNV - 7/26 1
13-32900933-T-A c.631+183T>A - IntronicSNV - 7/26 1
13-32903570-T-TT c.632-10dup - IntronicInsertion - 7/26 1
13-32903575-T-C c.632-5T>C - IntronicSNV - 7/26 1
13-32903578-A-G c.632-2A>G - IntronicSNV - 7/26 1
13-32903579-G-A c.632-1G>A - IntronicSNV - 7/26 1
13-32903581-C-CC c.633dup p.Arg212Glnfs*3 SpliceAcceptorInsertion 8/27 - 1
13-32903581-C-T c.633C>T p.Val211Val Synonymous 8/27 - 1
13-32903583-AGA-A c.635_636del p.Arg212Lysfs*2 Frameshift 8/27 - 2
13-32903594-AG-A c.646del p.Ala216Hisfs*14 Frameshift 8/27 - 1
13-32903597-TC-CT c.649_650delinsCT p.Ser217Leu Missense 8/27 - 1
13-32903605-CT-C c.657del p.Val220Tyrfs*10 Frameshift 8/27 - 1
13-32903606-G-A c.658G>A p.Val220Ile Missense 8/27 - 1
13-32903606-TGT-T c.658_659del p.Val220Ilefs*4 Frameshift 8/27 - 33
13-32903612-C-A c.664C>A p.Pro222Thr Missense 8/27 - 1
13-32903621-A-G c.673A>G p.Thr225Ala Missense 8/27 - 1
13-32903627-G-A c.679G>A p.Ala227Thr Missense 8/27 - 1
13-32903630-G-A c.681+1G>A - IntronicSNV - 8/26 1
13-32903685-C-G c.681+56C>G - IntronicSNV - 8/26 6
13-32903685-C-T c.681+56C>T - IntronicSNV - 8/26 9
13-32903726-TGT-T c.681+97_681+98del - IntronicDeletion - 8/26 1
13-32905044-AT-A c.682-12del - IntronicDeletion - 8/26 1
13-32905044-ATA-A c.682-12_682-11del - IntronicDeletion - 8/26 1
13-32905064-AAA-A c.690_691del p.Ser231Leufs*6 Frameshift 9/27 - 1
13-32905065-AG-CC c.691_692delinsCC p.Ser231Pro Missense 9/27 - 1
13-32905071-T-G c.697T>G p.Phe233Val Missense 9/27 - 1
13-32905074-TT-T c.700del p.Ser234Profs*7 Frameshift 9/27 - 4
13-32905084-A-G c.710A>G p.Asp237Gly Missense 9/27 - 1
13-32905103-ATGAT-A c.729_732del p.Asn243Lysfs*7 Frameshift 9/27 - 1
13-32905110-ATTTATCGCTTCTGTGACAGA-A c.736_755del p.Phe246Glnfs*2 Frameshift 9/27 - 1
13-32905110-T-G c.736T>G p.Phe246Val Missense 9/27 - 1
13-32905111-T-G c.737T>G p.Phe246Cys Missense 9/27 - 1
13-32905112-TT-T c.738del p.Phe246Leufs*5 Frameshift 9/27 - 2
13-32905113-A-AA c.739dup p.Ile247Asnfs*8 Frameshift 9/27 - 1
13-32905113-TAT-T c.739_740del p.Ile247Argfs*7 Frameshift 9/27 - 1
13-32905113-A-G c.739A>G p.Ile247Val Missense 9/27 - 1
13-32905115-C-T c.741C>T p.Ile247Ile Synonymous 9/27 - 1
13-32905115-C-A c.741C>A p.Ile247Ile Synonymous 9/27 - 1
13-32905116-G-A c.742G>A p.Ala248Thr Missense 9/27 - 2
13-32905117-C-G c.743C>G p.Ala248Gly Missense 9/27 - 1
13-32905122-G-C c.748G>C p.Val250Leu Missense 9/27 - 1
13-32905126-C-T c.752C>T p.Thr251Ile Missense 9/27 - 1
13-32905126-C-G c.752C>G p.Thr251Arg Missense 9/27 - 1
13-32905128-G-A c.754G>A p.Asp252Asn Missense 9/27 - 1
13-32905128-GA-CT c.754_755delinsCT p.Asp252Leu Missense 9/27 - 1
13-32905129-GA-G c.755del p.Asp252Alafs*25 Frameshift 9/27 - 1
13-32905129-GACAG-G c.755_758del p.Asp252Valfs*24 Frameshift 9/27 - 14
13-32905139-ACACAA-A c.765_769del p.Asn255Lysfs*19 Frameshift 9/27 - 1
13-32905145-AT-A c.771del p.Gln258Lysfs*19 Frameshift 9/27 - 1
13-32905145-ATCAAA-A c.771_775del p.Asn257Lysfs*17 Frameshift 9/27 - 23
13-32905146-C-T c.772C>T p.Gln258* Nonsense 9/27 - 1
13-32905148-AAA-A c.774_775del p.Glu260Serfs*15 Frameshift 9/27 - 1
13-32905149-A-T c.775A>T p.Arg259* Nonsense 9/27 - 2
13-32905151-A-AT c.777_778insT p.Glu260* Nonsense 9/27 - 1
13-32905152-AGA-A c.778_779del p.Glu260Serfs*15 Frameshift 9/27 - 1
13-32905158-G-A c.784G>A p.Ala262Thr Missense 9/27 - 1
13-32905158-TG-T c.784del p.Ala262Glnfs*15 Frameshift 9/27 - 1
13-32905159-C-T c.785C>T p.Ala262Val Missense 9/27 - 1
13-32905164-CA-TT c.790_791delinsTT p.His264Phe Missense 9/27 - 1
13-32905168-GG-G c.793+1del - IntronicDeletion - 9/26 1
13-32905201-T-G c.793+34T>G - IntronicSNV - 9/26 1
13-32906387-C-T c.794-22C>T - IntronicSNV - 9/26 1
13-32906411-T-C c.796T>C p.Phe266Leu Missense 10/27 - 2
13-32906411-TT-GC c.796_797delinsGC p.Phe266Ala Missense 10/27 - 1
13-32906412-TTT-T c.797_798del p.Phe266Trpfs*9 Frameshift 10/27 - 1
13-32906412-T-A c.797T>A p.Phe266Tyr Missense 10/27 - 1
13-32906412-T-G c.797T>G p.Phe266Cys Missense 10/27 - 1
13-32906414-G-T c.799G>T p.Gly267* Nonsense 10/27 - 1
13-32906415-G-A c.800G>A p.Gly267Glu Missense 10/27 - 1
13-32906415-G-GG c.800dup p.Thr269Asnfs*7 Frameshift 10/27 - 1
13-32906420-A-T c.805A>T p.Thr269Ser Missense 10/27 - 1
13-32906424-C-G c.809C>G p.Ser270* Nonsense 10/27 - 1
13-32906426-G-A c.811G>A p.Gly271Arg Missense 10/27 - 2
13-32906429-A-C c.814A>C p.Asn272His Missense 10/27 - 1
13-32906430-A-T c.815A>T p.Asn272Ile Missense 10/27 - 1
13-32906444-A-C c.829A>C p.Asn277His Missense 10/27 - 1
13-32906446-T-G c.831T>G p.Asn277Lys Missense 10/27 - 5
13-32906446-T-C c.831T>C p.Asn277Asn Synonymous 10/27 - 1
13-32906447-A-G c.832A>G p.Ser278Gly Missense 10/27 - 1
13-32906450-TG-GC c.835_836delinsGC p.Cys279Ala Missense 10/27 - 1
13-32906452-C-T c.837C>T p.Cys279Cys Synonymous 10/27 - 1
13-32906456-G-A c.841G>A p.Asp281Asn Missense 10/27 - 1
13-32906456-G-T c.841G>T p.Asp281Tyr Missense 10/27 - 2
13-32906458-ACCAC-A c.843_846del p.Asp281Glufs*10 Frameshift 10/27 - 1
13-32906459-C-T c.844C>T p.His282Tyr Missense 10/27 - 1
13-32906460-A-ATTTGG c.845_846insTTTGG p.Ile283Leufs*11 Frameshift 10/27 - 1
13-32906461-ACA-A c.846_847del p.Ile283Trpfs*11 Frameshift 10/27 - 1
13-32906462-A-G c.847A>G p.Ile283Val Missense 10/27 - 1
13-32906464-T-TT c.849dup p.Gly284Trpfs*11 Frameshift 10/27 - 1
13-32906471-T-G c.856T>G p.Ser286Ala Missense 10/27 - 2
13-32906471-T-C c.856T>C p.Ser286Pro Missense 10/27 - 1
13-32906472-C-G c.857C>G p.Ser286* Nonsense 10/27 - 1
13-32906474-A-G c.859A>G p.Met287Val Missense 10/27 - 1
13-32906480-A-G c.865A>G p.Asn289Asp Missense 10/27 - 9
13-32906480-A-C c.865A>C p.Asn289His Missense 10/27 - 55
13-32906495-G-T c.880G>T p.Glu294* Nonsense 10/27 - 1
13-32906520-C-CA c.905_906insA p.Ser303Leufs*2 Frameshift 10/27 - 1
13-32906529-GAA-G c.914_915del p.Glu305Glyfs*2 Frameshift 10/27 - 1
13-32906532-A-T c.917A>T p.Asp306Val Missense 10/27 - 1
13-32906532-A-C c.917A>C p.Asp306Ala Missense 10/27 - 1
13-32906539-TTT-T c.924_925del p.Ser309Ilefs*5 Frameshift 10/27 - 1
13-32906542-A-G c.927A>G p.Ser309Ser Synonymous 10/27 - 2
13-32906544-T-C c.929T>C p.Leu310Ser Missense 10/27 - 1
13-32906545-A-AA c.930dup p.Cys311Metfs*4 Frameshift 10/27 - 1
13-32906546-TG-AC c.931_932delinsAC p.Cys311Thr Missense 10/27 - 1
13-32906552-TC-GG c.937_938delinsGG p.Ser313Gly Missense 10/27 - 1
13-32906552-T-TT c.937dup p.Ser313Phefs*2 Frameshift 10/27 - 1
13-32906558-T-A c.943T>A p.Cys315Ser Missense 10/27 - 10
13-32906561-A-G c.946A>G p.Arg316Gly Missense 10/27 - 1
13-32906570-A-G c.955A>G p.Asn319Asp Missense 10/27 - 1
13-32906571-A-G c.956A>G p.Asn319Ser Missense 10/27 - 1
13-32906571-A-C c.956A>C p.Asn319Thr Missense 10/27 - 6
13-32906571-A-AA c.956dup p.Asn319Lysfs*8 Frameshift 10/27 - 4
13-32906573-TC-T c.958del p.Leu320Tyrfs*4 Frameshift 10/27 - 1
13-32906576-CA-TC c.961_962delinsTC p.Gln321Ser Missense 10/27 - 1
13-32906576-C-T c.961C>T p.Gln321* Nonsense 10/27 - 4
13-32906578-A-C c.963A>C p.Gln321His Missense 10/27 - 1
13-32906579-A-C c.964A>C p.Lys322Gln Missense 10/27 - 9
13-32906584-A-AC c.969_970insC p.Arg324Glnfs*3 Frameshift 10/27 - 1
13-32906586-G-C c.971G>C p.Arg324Thr Missense 10/27 - 3
13-32906591-A-AA c.976dup p.Ser326Lysfs*4 Frameshift 10/27 - 1
13-32906593-C-A c.978C>A p.Ser326Arg Missense 10/27 - 9
13-32906596-AGA-A c.981_982del p.Lys327Asnfs*2 Frameshift 10/27 - 1
13-32906598-ACTAG-A c.983_986del p.Thr328Argfs*20 Frameshift 10/27 - 1
13-32906600-AGG-TGT c.985_987delinsTGT p.Arg329Cys Missense 10/27 - 1
13-32906602-G-GT c.987_988insT p.Lys330* Nonsense 10/27 - 1
13-32906609-A-AA c.994dup p.Ile332Asnfs*4 Frameshift 10/27 - 4
13-32906609-AA-A c.994del p.Ile332Phefs*17 Frameshift 10/27 - 4
13-32906610-T-A c.995T>A p.Ile332Asn Missense 10/27 - 1
13-32906611-T-G c.996T>G p.Ile332Met Missense 10/27 - 1
13-32906615-CC-C c.1000del p.His334Metfs*15 Frameshift 10/27 - 2
13-32906615-C-CC c.1000dup p.His334Profs*2 Frameshift 10/27 - 1
13-32906625-A-ATG c.1010_1011insTG p.Asp339Leufs*11 Frameshift 10/27 - 1
13-32906631-A-AA c.1016dup p.Asp339Glufs*2 Frameshift 10/27 - 5
13-32906631-GA-G c.1016del p.Asp339Valfs*10 Frameshift 10/27 - 2
13-32906633-G-T c.1018G>T p.Glu340* Nonsense 10/27 - 1
13-32906637-G-C c.1022G>C p.Cys341Ser Missense 10/27 - 2
13-32906636-T-A c.1021T>A p.Cys341Ser Missense 10/27 - 2
13-32906639-G-A c.1024G>A p.Glu342Lys Missense 10/27 - 1
13-32906644-AA-A c.1029del p.Lys343Asnfs*6 Frameshift 10/27 - 1
13-32906645-T-A c.1030T>A p.Ser344Thr Missense 10/27 - 1
13-32906650-A-AT c.1035_1036insT p.Asn346* Nonsense 10/27 - 2
13-32906652-A-C c.1037A>C p.Asn346Thr Missense 10/27 - 1
13-32906654-C-T c.1039C>T p.Gln347* Nonsense 10/27 - 1
13-32906655-A-G c.1040A>G p.Gln347Arg Missense 10/27 - 1
13-32906655-A-C c.1040A>C p.Gln347Pro Missense 10/27 - 1
13-32906668-AA-A c.1053del p.Lys351Asnfs*16 Frameshift 10/27 - 1
13-32906669-T-TT c.1054dup p.Tyr352Leufs*6 Frameshift 10/27 - 1
13-32906673-C-T c.1058C>T p.Ser353Leu Missense 10/27 - 1
13-32906677-T-G c.1062T>G p.Phe354Leu Missense 10/27 - 1
13-32906675-T-C c.1060T>C p.Phe354Leu Missense 10/27 - 1
13-32906677-T-A c.1062T>A p.Phe354Leu Missense 10/27 - 1
13-32906676-T-C c.1061T>C p.Phe354Ser Missense 10/27 - 1
13-32906690-G-A c.1075G>A p.Glu359Lys Missense 10/27 - 1
13-32906700-A-ACA c.1085_1086insCA p.Thr363Ilefs*5 Frameshift 10/27 - 1
13-32906701-ATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTG-A c.1086_1141del p.Asp362Glufs*14 Frameshift 10/27 - 1
13-32906709-C-T c.1094C>T p.Pro365Leu Missense 10/27 - 1
13-32906711-T-G c.1096T>G p.Leu366Val Missense 10/27 - 1
13-32906717-T-A c.1102T>A p.Ser368Thr Missense 10/27 - 1
13-32906718-C-G c.1103C>G p.Ser368* Nonsense 10/27 - 3
13-32906726-G-A c.1111G>A p.Ala371Thr Missense 10/27 - 1
13-32906729-A-C c.1114A>C p.Asn372His Missense 10/27 - 133
13-32906733-A-C c.1118A>C p.Gln373Pro Missense 10/27 - 1
13-32906736-AA-A c.1121del p.Lys374Serfs*25 Frameshift 10/27 - 1
13-32906738-C-T c.1123C>T p.Pro375Ser Missense 10/27 - 2
13-32906740-CC-C c.1125del p.Phe376Leufs*23 Frameshift 10/27 - 1
13-32906743-TT-T c.1128del p.Phe376Leufs*23 Frameshift 10/27 - 1
13-32906745-A-AA c.1130dup p.Ser378Glufs*4 Frameshift 10/27 - 1
13-32906751-G-C c.1136G>C p.Gly379Ala Missense 10/27 - 1
13-32906753-AA-A c.1138del p.Ser380Valfs*19 Frameshift 10/27 - 3
13-32906757-A-G c.1142A>G p.Asp381Gly Missense 10/27 - 1
13-32906762-AA-A c.1147del p.Ile383Serfs*16 Frameshift 10/27 - 1
13-32906766-C-G c.1151C>G p.Ser384Cys Missense 10/27 - 1
13-32906766-C-T c.1151C>T p.Ser384Phe Missense 10/27 - 13
13-32906782-G-A c.1167G>A p.Pro389Pro Synonymous 10/27 - 1
13-32906791-C-T c.1176C>T p.Ala392Ala Synonymous 10/27 - 1
13-32906791-C-G c.1176C>G p.Ala392Ala Synonymous 10/27 - 1
13-32906791-C-A c.1176C>A p.Ala392Ala Synonymous 10/27 - 1
13-32906795-G-T c.1180G>T p.Glu394* Nonsense 10/27 - 2
13-32906796-A-C c.1181A>C p.Glu394Ala Missense 10/27 - 3
13-32906799-G-A c.1184G>A p.Trp395* Nonsense 10/27 - 1
13-32906806-A-C c.1191A>C p.Gln397His Missense 10/27 - 1
13-32906822-TCTA-T c.1207_1209del p.Leu403del InFrameDeletion 10/27 - 1
13-32906828-G-C c.1213G>C p.Gly405Arg Missense 10/27 - 1
13-32906828-G-A c.1213G>A p.Gly405Arg Missense 10/27 - 1
13-32906832-C-A c.1217C>A p.Ala406Asp Missense 10/27 - 1
13-32906837-GA-G c.1222del p.Met408Trpfs*22 Frameshift 10/27 - 1
13-32906846-AA-A c.1231del p.Ile411Tyrfs*19 Frameshift 10/27 - 3
13-32906848-A-AA c.1233dup p.Pro412Thrfs*9 Frameshift 10/27 - 1
13-32906849-C-A c.1234C>A p.Pro412Thr Missense 10/27 - 1
13-32906853-TA-AT c.1238_1239delinsAT p.Leu413His Missense 10/27 - 1
13-32906853-CT-C c.1238del p.Leu413Hisfs*17 Frameshift 10/27 - 4
13-32906859-A-G c.1244A>G p.His415Arg Missense 10/27 - 3
13-32906859-CA-C c.1244del p.His415Leufs*15 Frameshift 10/27 - 1
13-32906861-A-G c.1246A>G p.Ile416Val Missense 10/27 - 1
13-32906862-T-G c.1247T>G p.Ile416Ser Missense 10/27 - 2
13-32906867-T-C c.1252T>C p.Ser418Pro Missense 10/27 - 1
13-32906874-A-G c.1259A>G p.Asp420Gly Missense 10/27 - 1
13-32906876-C-A c.1261C>A p.Gln421Lys Missense 10/27 - 1
13-32906876-C-T c.1261C>T p.Gln421* Nonsense 10/27 - 2
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 - 2
13-32906890-A-G c.1275A>G p.Glu425Glu Synonymous 10/27 - 3
13-32906892-A-C c.1277A>C p.Lys426Thr Missense 10/27 - 1
13-32906893-A-AT c.1278_1279insT p.Asp427* Nonsense 10/27 - 1
13-32906893-AA-A c.1278del p.Asp427Thrfs*3 Frameshift 10/27 - 3
13-32906901-T-G c.1286T>G p.Leu429* Nonsense 10/27 - 1
13-32906906-A-AT c.1291_1292insT p.Thr431Ilefs*21 Frameshift 10/27 - 1
13-32906907-C-T c.1292C>T p.Thr431Ile Missense 10/27 - 1
13-32906909-G-T c.1294G>T p.Glu432* Nonsense 10/27 - 1
13-32906909-G-C c.1294G>C p.Glu432Gln Missense 10/27 - 1
13-32906911-AGA-A c.1296_1297del p.Asn433Glnfs*18 Frameshift 10/27 - 4
13-32906911-G-GT c.1296_1297insT p.Asn433* Nonsense 10/27 - 2
13-32906915-CAAAA-C c.1300_1303del p.Lys434Glufs*25 Frameshift 10/27 - 1
13-32906918-A-AA c.1303dup p.Arg435Lysfs*17 Frameshift 10/27 - 1
13-32906921-AAAGAAAGA-A c.1306_1313del p.Lys436Phefs*13 Frameshift 10/27 - 1
13-32906921-A-G c.1306A>G p.Lys436Glu Missense 10/27 - 1
13-32906925-AAAGA-A c.1310_1313del p.Lys437Ilefs*22 Frameshift 10/27 - 22
13-32906926-AAGAT-A c.1311_1314del p.Lys437Asnfs*22 Frameshift 10/27 - 3
13-32906926-AA-A c.1311del p.Asp438Ilefs*22 Frameshift 10/27 - 1
13-32906933-TC-T c.1318del p.Thr441Leufs*19 Frameshift 10/27 - 1
13-32906935-TTACTT-T c.1320_1324del p.Thr441Argfs*9 Frameshift 10/27 - 1
13-32906936-TACTT-T c.1321_1324del p.Thr441Glnfs*18 Frameshift 10/27 - 1
13-32906937-C-T c.1322C>T p.Thr441Ile Missense 10/27 - 1
13-32906949-C-A c.1334C>A p.Ser445Tyr Missense 10/27 - 1
13-32906952-T-A c.1337T>A p.Leu446* Nonsense 10/27 - 1
13-32906956-A-C c.1341A>C p.Pro447Pro Synonymous 10/27 - 1
13-32906956-CAC-C c.1341_1342del p.Arg448Tyrfs*3 Frameshift 10/27 - 1
13-32906957-C-T c.1342C>T p.Arg448Cys Missense 10/27 - 2
13-32906958-G-A c.1343G>A p.Arg448His Missense 10/27 - 2
13-32906966-AGC-TGA c.1351_1353delinsTGA p.Ser451* Nonsense 10/27 - 1
13-32906968-C-T c.1353C>T p.Ser451Ser Synonymous 10/27 - 1
13-32906969-C-A c.1354C>A p.Leu452Ile Missense 10/27 - 1
13-32906970-CTACCAAAATCAGAGAAGCCATTAAAT-C c.1355_1380del p.Leu452Argfs*7 Frameshift 10/27 - 1
13-32906977-AA-A c.1362del p.Lys454Asnfs*6 Frameshift 10/27 - 1
13-32906977-A-G c.1362A>G p.Lys454Lys Synonymous 10/27 - 2
13-32906980-A-G c.1365A>G p.Ser455Ser Synonymous 10/27 - 22
13-32906983-AGA-A c.1368_1369del p.Lys457Alafs*4 Frameshift 10/27 - 2
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
13-32906991-T-C c.1376T>C p.Leu459Ser Missense 10/27 - 1
13-32907000-A-G c.1385A>G p.Glu462Gly Missense 10/27 - 10
13-32907000-A-T c.1385A>T p.Glu462Val Missense 10/27 - 1
13-32907002-AA-A c.1387del p.Thr463Glnfs*3 Frameshift 10/27 - 1
13-32907004-CAG-C c.1389_1390del p.Val464Glyfs*3 Frameshift 10/27 - 4
13-32907009-T-G c.1394T>G p.Val465Gly Missense 10/27 - 1
13-32907010-A-T c.1395A>T p.Val465Val Synonymous 10/27 - 2
13-32907010-A-G c.1395A>G p.Val465Val Synonymous 10/27 - 2
13-32907010-A-C c.1395A>C p.Val465Val Synonymous 10/27 - 5
13-32907014-A-T c.1399A>T p.Lys467* Nonsense 10/27 - 17
13-32907017-A-G c.1402A>G p.Arg468Gly Missense 10/27 - 1
13-32907020-AGA-A c.1405_1406del p.Asp469* Frameshift 10/27 - 3
13-32907023-G-T c.1408G>T p.Glu470* Nonsense 10/27 - 1
13-32907023-G-C c.1408G>C p.Glu470Gln Missense 10/27 - 1
13-32907031-AGCATC-A c.1416_1420del p.Gln472Hisfs*2 Frameshift 10/27 - 1
13-32907034-T-C c.1419T>C p.His473His Synonymous 10/27 - 1
13-32907037-T-A c.1422T>A p.Leu474Leu Synonymous 10/27 - 1
13-32907037-T-C c.1422T>C p.Leu474Leu Synonymous 10/27 - 1
13-32907037-T-G c.1422T>G p.Leu474Leu Synonymous 10/27 - 1
13-32907044-TC-T c.1429del p.His477Ilefs*8 Frameshift 10/27 - 1
13-32907046-T-C c.1431T>C p.His477His Synonymous 10/27 - 1
13-32907050-G-T c.1435G>T p.Asp479Tyr Missense 10/27 - 1
13-32907052-C-G c.1437C>G p.Asp479Glu Missense 10/27 - 2
13-32907055-C-A c.1440C>A p.Cys480* Nonsense 10/27 - 1
13-32907056-A-G c.1441A>G p.Ile481Val Missense 10/27 - 1
13-32907059-TC-T c.1444del p.Ala483Glnfs*2 Frameshift 10/27 - 1
13-32907063-C-T c.1448C>T p.Ala483Val Missense 10/27 - 1
13-32907071-C-T c.1456C>T p.Gln486* Nonsense 10/27 - 1
13-32907075-C-A c.1460C>A p.Ala487Glu Missense 10/27 - 1
13-32907076-A-T c.1461A>T p.Ala487Ala Synonymous 10/27 - 1
13-32907077-A-AA c.1462dup p.Ile488Asnfs*26 Frameshift 10/27 - 1
13-32907077-A-G c.1462A>G p.Ile488Val Missense 10/27 - 1
13-32907078-T-G c.1463T>G p.Ile488Arg Missense 10/27 - 1
13-32907093-C-T c.1478C>T p.Pro493Leu Missense 10/27 - 1
13-32907098-G-A c.1483G>A p.Ala495Thr Missense 10/27 - 1
13-32907102-C-T c.1487C>T p.Ser496Phe Missense 10/27 - 1
13-32907102-TCT-T c.1487_1488del p.Ser496Phefs*17 Frameshift 10/27 - 1
13-32907108-T-G c.1493T>G p.Phe498Cys Missense 10/27 - 1
13-32907114-GG-G c.1499del p.Gly500Valfs*9 Frameshift 10/27 - 1
13-32907119-A-C c.1504A>C p.Lys502Gln Missense 10/27 - 1
13-32907119-CAAAAA-C c.1504_1508del p.Lys502Valfs*10 Frameshift 10/27 - 2
13-32907120-AAAAA-A c.1505_1508del p.Lys502Serfs*6 Frameshift 10/27 - 1
13-32907126-TCT-T c.1511_1512del p.Ser504Tyrfs*9 Frameshift 10/27 - 1
13-32907129-T-G c.1514T>G p.Ile505Arg Missense 10/27 - 1
13-32907129-T-C c.1514T>C p.Ile505Thr Missense 10/27 - 7
13-32907131-ATTCAG-A c.1516_1520del p.Phe506Asnfs*6 Frameshift 10/27 - 1
13-32907133-C-T c.1518C>T p.Phe506Phe Synonymous 10/27 - 1
13-32907141-G-T c.1526G>T p.Arg509Ile Missense 10/27 - 1
13-32907143-G-T c.1528G>T p.Glu510* Nonsense 10/27 - 6
13-32907145-A-G c.1530A>G p.Glu510Glu Synonymous 10/27 - 1
13-32907153-A-G c.1538A>G p.Lys513Arg Missense 10/27 - 3
13-32907161-TTT-T c.1546_1547del p.Phe516Glnfs*10 Frameshift 10/27 - 1
13-32907165-A-G c.1550A>G p.Asn517Ser Missense 10/27 - 4
13-32907168-C-CT c.1553_1554insT p.Ser519Lysfs*8 Frameshift 10/27 - 1
13-32907171-G-C c.1556G>C p.Ser519Thr Missense 10/27 - 1
13-32907183-A-G c.1568A>G p.His523Arg Missense 10/27 - 5
13-32907185-TAT-T c.1570_1571del p.Met524Aspfs*2 Frameshift 10/27 - 1
13-32907198-AA-A c.1583del p.Asn528Thrfs*30 Frameshift 10/27 - 1
13-32907203-A-T c.1588A>T p.Lys530* Nonsense 10/27 - 1
13-32907208-A-G c.1593A>G p.Lys531Lys Synonymous 10/27 - 1
13-32907208-AA-A c.1593del p.Glu532Lysfs*26 Frameshift 10/27 - 1
13-32907208-A-AA c.1593dup p.Glu532Argfs*3 Frameshift 10/27 - 2
13-32907215-G-A c.1600G>A p.Glu534Lys Missense 10/27 - 1
13-32907216-A-G c.1601A>G p.Glu534Gly Missense 10/27 - 1
13-32907228-G-A c.1613G>A p.Ser538Asn Missense 10/27 - 1
13-32907231-G-C c.1616G>C p.Gly539Ala Missense 10/27 - 1
13-32907236-G-A c.1621G>A p.Glu541Lys Missense 10/27 - 1
13-32907238-A-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 - 1
13-32907242-C-A c.1627C>A p.His543Asn Missense 10/27 - 3
13-32907246-C-T c.1631C>T p.Thr544Ile Missense 10/27 - 1
13-32907251-TT-T c.1636del p.Cys546Alafs*12 Frameshift 10/27 - 1
13-32907257-C-T c.1642C>T p.Gln548* Nonsense 10/27 - 2
13-32907259-G-A c.1644G>A p.Gln548Gln Synonymous 10/27 - 1
13-32907260-A-G c.1645A>G p.Lys549Glu Missense 10/27 - 1
13-32907262-G-A c.1647G>A p.Lys549Lys Synonymous 10/27 - 1
13-32907273-T-G c.1658T>G p.Leu553* Nonsense 10/27 - 1
13-32907273-T-A c.1658T>A p.Leu553* Nonsense 10/27 - 1
13-32907274-A-G c.1659A>G p.Leu553Leu Synonymous 10/27 - 1
13-32907277-T-G c.1662T>G p.Cys554Trp Missense 10/27 - 4
13-32907285-T-G c.1670T>G p.Leu557* Nonsense 10/27 - 3
13-32907291-A-G c.1676A>G p.Asp559Gly Missense 10/27 - 2
13-32907294-A-G c.1679A>G p.Asn560Ser Missense 10/27 - 1
13-32907295-T-C c.1680T>C p.Asn560Asn Synonymous 10/27 - 1
13-32907303-G-A c.1688G>A p.Trp563* Nonsense 10/27 - 2
13-32907318-C-T c.1703C>T p.Thr568Ile Missense 10/27 - 1
13-32907320-ACA-A c.1705_1706del p.Gln569Glufs*20 Frameshift 10/27 - 1
13-32907324-A-G c.1709A>G p.Asn570Ser Missense 10/27 - 1
13-32907329-G-T c.1714G>T p.Val572Leu Missense 10/27 - 1
13-32907329-G-A c.1714G>A p.Val572Ile Missense 10/27 - 1
13-32907329-G-C c.1714G>C p.Val572Leu Missense 10/27 - 1
13-32907351-T-G c.1736T>G p.Leu579* Nonsense 10/27 - 2
13-32907359-A-C c.1744A>C p.Thr582Pro Missense 10/27 - 11
13-32907359-A-G c.1744A>G p.Thr582Ala Missense 10/27 - 1
13-32907363-T-TA c.1748_1749insA p.Lys584Glufs*6 Frameshift 10/27 - 1
13-32907363-T-A c.1748T>A p.Leu583* Nonsense 10/27 - 3
13-32907364-G-A c.1749G>A p.Leu583Leu Synonymous 10/27 - 1
13-32907369-AA-A c.1754del p.Lys585Argfs*29 Frameshift 10/27 - 2
13-32907370-AGAAAA-A c.1755_1759del p.Lys585Asnfs*3 Frameshift 10/27 - 3
13-32907377-A-G c.1762A>G p.Asn588Asp Missense 10/27 - 2
13-32907378-AATAA-A c.1763_1766del p.Asn588Serfs*25 Frameshift 10/27 - 5
13-32907384-T-G c.1769T>G p.Phe590Cys Missense 10/27 - 1
13-32907386-AT-TA c.1771_1772delinsTA p.Ile591Tyr Missense 10/27 - 1
13-32907387-T-C c.1772T>C p.Ile591Thr Missense 10/27 - 2
13-32907387-TT-AG c.1772_1773delinsAG p.Ile591Lys Missense 10/27 - 1
13-32907388-TTTAT-T c.1773_1776del p.Ile591Metfs*22 Frameshift 10/27 - 2
13-32907388-T-G c.1773T>G p.Ile591Met Missense 10/27 - 1
13-32907389-TT-T c.1774del p.Tyr592Metfs*22 Frameshift 10/27 - 1
13-32907395-A-T c.1780A>T p.Ile594Leu Missense 10/27 - 1
13-32907398-C-T c.1783C>T p.His595Tyr Missense 10/27 - 1
13-32907401-G-C c.1786G>C p.Asp596His Missense 10/27 - 3
13-32907402-GATGAAACATCTTA-G c.1787_1799del p.Asp596Valfs*14 Frameshift 10/27 - 1
13-32907403-T-C c.1788T>C p.Asp596Asp Synonymous 10/27 - 1
13-32907407-AA-A c.1792del p.Thr598Hisfs*16 Frameshift 10/27 - 1
13-32907407-A-G c.1792A>G p.Thr598Ala Missense 10/27 - 11
13-32907410-TC-GG c.1795_1796delinsGG p.Ser599Gly Missense 10/27 - 1
13-32907411-TCTTAT-T c.1796_1800del p.Ser599* Frameshift 10/27 - 9
13-32907411-CT-AA c.1796_1797delinsAA p.Ser599* Nonsense 10/27 - 1
13-32907413-T-C c.1798T>C p.Tyr600His Missense 10/27 - 3
13-32907413-T-G c.1798T>G p.Tyr600Asp Missense 10/27 - 1
13-32907415-T-G c.1800T>G p.Tyr600* Nonsense 10/27 - 1
13-32907415-T-A c.1800T>A p.Tyr600* Nonsense 10/27 - 1
13-32907418-A-AA c.1803dup p.Gly602Argfs*14 Frameshift 10/27 - 4
13-32907419-G-A c.1804G>A p.Gly602Arg Missense 10/27 - 6
13-32907425-A-G c.1810A>G p.Lys604Glu Missense 10/27 - 1
13-32907428-AA-A c.1813del p.Ile605Tyrfs*9 Frameshift 10/27 - 6
13-32907428-A-AA c.1813dup p.Ile605Asnfs*11 Frameshift 10/27 - 33
13-32907430-A-AA c.1815dup p.Pro606Thrfs*10 Frameshift 10/27 - 2
13-32907435-A-C c.1820A>C p.Lys607Thr Missense 10/27 - 4
13-32907438-A-AA c.1823dup p.Asp608Glufs*8 Frameshift 10/27 - 1
13-32907440-C-T c.1825C>T p.Gln609* Nonsense 10/27 - 2
13-32907440-C-G c.1825C>G p.Gln609Glu Missense 10/27 - 3
13-32907447-C-A c.1832C>A p.Ser611* Nonsense 10/27 - 5
13-32907448-A-AA c.1833dup p.Glu612Argfs*4 Frameshift 10/27 - 1
13-32907449-G-A c.1834G>A p.Glu612Lys Missense 10/27 - 1
13-32907453-T-G c.1838T>G p.Leu613Arg Missense 10/27 - 1
13-32907457-T-TT c.1842dup p.Asn615* Nonsense 10/27 - 2
13-32907460-ACT-A c.1845_1846del p.Asn615Lysfs*6 Frameshift 10/27 - 1
13-32907465-C-A c.1850C>A p.Ser617* Nonsense 10/27 - 1
13-32907470-C-T c.1855C>T p.Gln619* Nonsense 10/27 - 2
13-32907471-A-AA c.1856dup p.Phe620Valfs*2 Frameshift 10/27 - 1
13-32907486-C-T c.1871C>T p.Ala624Val Missense 10/27 - 1
13-32907495-C-T c.1880C>T p.Ala627Val Missense 10/27 - 1
13-32907496-CA-C c.1881del p.Pro628Hisfs*16 Frameshift 10/27 - 1
13-32907502-TTACATTT-T c.1887_1893del p.Thr630Glnfs*12 Frameshift 10/27 - 1
13-32907503-A-AA c.1888dup p.Thr630Asnfs*6 Frameshift 10/27 - 3
13-32907503-A-AAA c.1888_1889insAA p.Thr630Lysfs*15 Frameshift 10/27 - 1
13-32907504-C-T c.1889C>T p.Thr630Ile Missense 10/27 - 6
13-32907504-AC-A c.1889del p.Thr630Asnfs*14 Frameshift 10/27 - 2
13-32907504-CA-AC c.1889_1890delinsAC p.Thr630Asn Missense 10/27 - 1
13-32907510-C-G c.1895C>G p.Ala632Gly Missense 10/27 - 1
13-32907520-ATTCAG-A c.1905_1909del p.Asp635Glufs*15 SpliceDonorDeletion 10/27 - 1
13-32907525-G-A c.1909+1G>A - IntronicSNV - 10/26 2
13-32907532-CT-C c.1909+8del - IntronicDeletion - 10/26 1
13-32907546-TT-T c.1909+22del - IntronicDeletion - 10/26 2
13-32910328-T-C c.1910-74T>C - IntronicSNV - 10/26 4
13-32910351-G-T c.1910-51G>T - IntronicSNV - 10/26 2
13-32910365-G-GG c.1910-37dup - IntronicInsertion - 10/26 1
13-32910403-T-C c.1911T>C p.Gly637Gly Synonymous 11/27 - 2
13-32910414-C-A c.1922C>A p.Ser641Tyr Missense 11/27 - 1
13-32910416-T-C c.1924T>C p.Ser642Pro Missense 11/27 - 1
13-32910421-TG-T c.1929del p.Arg645Glufs*15 Frameshift 11/27 - 9
13-32910424-A-AT c.1932_1933insT p.Arg645* Nonsense 11/27 - 1
13-32910425-AG-GA c.1933_1934delinsGA p.Arg645Glu Missense 11/27 - 1
13-32910426-G-GG c.1934dup p.Ser646Lysfs*6 Frameshift 11/27 - 1
13-32910426-G-A c.1934G>A p.Arg645Lys Missense 11/27 - 1
13-32910430-C-T c.1938C>T p.Ser646Ser Synonymous 11/27 - 2
13-32910435-C-T c.1943C>T p.Ser648Leu Missense 11/27 - 1
13-32910437-C-T c.1945C>T p.Gln649* Nonsense 11/27 - 1
13-32910452-G-A c.1960G>A p.Glu654Lys Missense 11/27 - 1
13-32910454-AA-A c.1962del p.Glu654Aspfs*6 Frameshift 11/27 - 8
13-32910454-A-AA c.1962dup p.Pro655Thrfs*7 Frameshift 11/27 - 3
13-32910456-C-G c.1964C>G p.Pro655Arg Missense 11/27 - 8
13-32910456-CC-C c.1964del p.Pro655Glnfs*5 Frameshift 11/27 - 4
13-32910462-T-A c.1970T>A p.Leu657* Nonsense 11/27 - 1
13-32910467-T-C c.1975T>C p.Leu659Leu Synonymous 11/27 - 1
13-32910481-TT-T c.1989del p.Phe663Leufs*5 Frameshift 11/27 - 1
13-32910483-G-A c.1991G>A p.Gly664Glu Missense 11/27 - 1
13-32910488-A-G c.1996A>G p.Ile666Val Missense 11/27 - 1
13-32910499-A-AA c.2007dup p.Cys670Metfs*3 Frameshift 11/27 - 1
13-32910506-A-G c.2014A>G p.Arg672Gly Missense 11/27 - 1
13-32910515-AA-A c.2023del p.Thr675Hisfs*7 Frameshift 11/27 - 1
13-32910516-ACATGT-A c.2024_2028del p.Thr675Ilefs*2 Frameshift 11/27 - 1
13-32910533-G-T c.2041G>T p.Val681Leu Missense 11/27 - 1
13-32910539-CTCTC-C c.2047_2050del p.Ser683Argfs*46 Frameshift 11/27 - 1
13-32910541-CTC-C c.2049_2050del p.Gln684Glyfs*3 Frameshift 11/27 - 2
13-32910542-C-A c.2050C>A p.Gln684Lys Missense 11/27 - 1
13-32910551-TGATTA-T c.2059_2063del p.Asp687* Frameshift 11/27 - 2
13-32910561-A-G c.2069A>G p.Glu690Gly Missense 11/27 - 1
13-32910563-AG-A c.2071del p.Ala691Glnfs*39 Frameshift 11/27 - 1
13-32910569-T-G c.2077T>G p.Cys693Gly Missense 11/27 - 1
13-32910587-ACA-A c.2095_2096del p.Gln699Valfs*8 Frameshift 11/27 - 1
13-32910587-C-T c.2095C>T p.Gln699* Nonsense 11/27 - 3
13-32910588-A-T c.2096A>T p.Gln699Leu Missense 11/27 - 1
13-32910594-T-G c.2102T>G p.Phe701Cys Missense 11/27 - 2
13-32910597-T-A c.2105T>A p.Ile702Asn Missense 11/27 - 1
13-32910618-T-TA c.2126_2127insA p.Ser710Valfs*9 Frameshift 11/27 - 1
13-32910619-G-C c.2127G>C p.Leu709Leu Synonymous 11/27 - 1
13-32910623-T-A c.2131T>A p.Cys711Ser Missense 11/27 - 1
13-32910624-G-C c.2132G>C p.Cys711Ser Missense 11/27 - 1
13-32910625-C-A c.2133C>A p.Cys711* Nonsense 11/27 - 1
13-32910630-A-T c.2138A>T p.Gln713Leu Missense 11/27 - 2
13-32910635-GG-AC c.2143_2144delinsAC p.Gly715Thr Missense 11/27 - 1
13-32910636-G-C c.2144G>C p.Gly715Ala Missense 11/27 - 1
13-32910639-A-G c.2147A>G p.Gln716Arg Missense 11/27 - 1
13-32910642-G-A c.2150G>A p.Cys717Tyr Missense 11/27 - 1
13-32910643-T-A c.2151T>A p.Cys717* Nonsense 11/27 - 1
13-32910645-A-C c.2153A>C p.Glu718Ala Missense 11/27 - 1
13-32910653-C-A c.2161C>A p.Pro721Thr Missense 11/27 - 1
13-32910656-A-C c.2164A>C p.Lys722Gln Missense 11/27 - 1
13-32910659-AA-A c.2167del p.Ser723Alafs*7 Frameshift 11/27 - 1
13-32910661-C-T c.2169C>T p.Ser723Ser Synonymous 11/27 - 1
13-32910667-A-AA c.2175dup p.Val726Serfs*25 Frameshift 11/27 - 5
13-32910675-A-C c.2183A>C p.Asp728Ala Missense 11/27 - 1
13-32910678-T-C c.2186T>C p.Ile729Thr Missense 11/27 - 3
13-32910680-A-AC c.2188_2189insC p.Lys730Thrfs*21 Frameshift 11/27 - 2
13-32910682-A-AT c.2190_2191insT p.Glu731* Nonsense 11/27 - 1
13-32910685-AAGAGG-A c.2193_2197del p.Glu731Aspfs*18 Frameshift 11/27 - 1
13-32910705-G-A c.2213G>A p.Cys738Tyr Missense 11/27 - 1
13-32910716-C-T c.2224C>T p.Gln742* Nonsense 11/27 - 8
13-32910721-T-C c.2229T>C p.His743His Synonymous 11/27 - 20
13-32910723-C-G c.2231C>G p.Ser744* Nonsense 11/27 - 2
13-32910723-C-A c.2231C>A p.Ser744* Nonsense 11/27 - 1
13-32910725-A-G c.2233A>G p.Lys745Glu Missense 11/27 - 1
13-32910729-T-G c.2237T>G p.Val746Gly Missense 11/27 - 1
13-32910736-ACA-A c.2244_2245del p.Tyr748* Frameshift 11/27 - 1
13-32910743-A-C c.2251A>C p.Thr751Pro Missense 11/27 - 1
13-32910746-TGACT-T c.2254_2257del p.Asp752Phefs*19 Frameshift 11/27 - 2
13-32910751-TT-T c.2259del p.Gln754Asnfs*18 Frameshift 11/27 - 1
13-32910758-C-T c.2266C>T p.Gln756* Nonsense 11/27 - 2
13-32910761-A-T c.2269A>T p.Lys757* Nonsense 11/27 - 1
13-32910766-T-G c.2274T>G p.Ser758Arg Missense 11/27 - 1
13-32910767-TC-T c.2275del p.Leu759Phefs*13 Frameshift 11/27 - 1
13-32910767-C-G c.2275C>G p.Leu759Val Missense 11/27 - 1
13-32910777-A-G c.2285A>G p.Asp762Gly Missense 11/27 - 1
13-32910779-TC-T c.2287del p.His763Metfs*9 Frameshift 11/27 - 1
13-32910788-G-A c.2296G>A p.Ala766Thr Missense 11/27 - 1
13-32910803-T-C c.2311T>C p.Leu771Leu Synonymous 11/27 - 7
13-32910804-T-G c.2312T>G p.Leu771* Nonsense 11/27 - 1
13-32910804-T-A c.2312T>A p.Leu771* Nonsense 11/27 - 1
13-32910805-A-T c.2313A>T p.Leu771Phe Missense 11/27 - 1
13-32910815-TT-T c.2323del p.Ser775Profs*8 Frameshift 11/27 - 1
13-32910815-TC-AA c.2323_2324delinsAA p.Ser775Asn Missense 11/27 - 1
13-32910821-G-A c.2329G>A p.Asp777Asn Missense 11/27 - 1
13-32910822-A-AA c.2330dup p.Asp777Glufs*11 Frameshift 11/27 - 3
13-32910831-C-G c.2339C>G p.Ser780* Nonsense 11/27 - 4
13-32910840-T-C c.2348T>C p.Val783Ala Missense 11/27 - 1
13-32910842-A-G c.2350A>G p.Met784Val Missense 11/27 - 15
13-32910842-ATG-CAT c.2350_2352inv p.Met784His Missense 11/27 - 1
13-32910845-A-G c.2353A>G p.Ile785Val Missense 11/27 - 1
13-32910855-G-A c.2363G>A p.Gly788Asp Missense 11/27 - 1
13-32910859-A-AT c.2367_2368insT p.Glu790* Nonsense 11/27 - 1
13-32910860-AG-A c.2368del p.Glu790Asnfs*20 Frameshift 11/27 - 1
13-32910868-C-A c.2376C>A p.Tyr792* Nonsense 11/27 - 2
13-32910878-G-A c.2386G>A p.Asp796Asn Missense 11/27 - 1
13-32910884-C-T c.2392C>T p.Leu798Phe Missense 11/27 - 1
13-32910888-A-G c.2396A>G p.Lys799Arg Missense 11/27 - 1
13-32910893-A-C c.2401A>C p.Asn801His Missense 11/27 - 1
13-32910894-AACAATTATGAA-A c.2402_2412del p.Asn801Ilefs*2 Frameshift 11/27 - 2
13-32910902-G-C c.2410G>C p.Glu804Gln Missense 11/27 - 1
13-32910902-G-A c.2410G>A p.Glu804Lys Missense 11/27 - 1
13-32910904-A-G c.2412A>G p.Glu804Glu Synonymous 11/27 - 1
13-32910908-G-C c.2416G>C p.Asp806His Missense 11/27 - 3
13-32910918-T-G c.2426T>G p.Leu809* Nonsense 11/27 - 1
13-32910922-CC-C c.2430del p.Asn812Ilefs*13 Frameshift 11/27 - 1
13-32910927-AA-A c.2435del p.Asn812Ilefs*13 Frameshift 11/27 - 1
13-32910934-CC-C c.2442del p.Met815Trpfs*10 Frameshift 11/27 - 5
13-32910946-T-A c.2454T>A p.Asn818Lys Missense 11/27 - 1
13-32910948-A-G c.2456A>G p.Gln819Arg Missense 11/27 - 1
13-32910951-A-G c.2459A>G p.Asp820Gly Missense 11/27 - 2
13-32910963-TTAAATG-T c.2471_2476del p.Leu824_Glu826delins* MultiAAMissense 11/27 - 1
13-32910963-T-G c.2471T>G p.Leu824* Nonsense 11/27 - 2
13-32910980-A-G c.2488A>G p.Asn830Asp Missense 11/27 - 1
13-32910983-G-A c.2491G>A p.Val831Ile Missense 11/27 - 1
13-32910985-T-TT c.2493dup p.Glu832* Nonsense 11/27 - 1
13-32910986-G-T c.2494G>T p.Glu832* Nonsense 11/27 - 1
13-32910987-A-G c.2495A>G p.Glu832Gly Missense 11/27 - 1
13-32910995-C-T c.2503C>T p.Pro835Ser Missense 11/27 - 1
13-32910997-A-AA c.2505dup p.Pro836Thrfs*2 Frameshift 11/27 - 2
13-32911002-A-G c.2510A>G p.Glu837Gly Missense 11/27 - 1
13-32911013-AGA-CAT c.2521_2523delinsCAT p.Arg841His Missense 11/27 - 1
13-32911013-AGA-TGG c.2521_2523delinsTGG p.Arg841Trp Missense 11/27 - 1
13-32911030-A-C c.2538A>C p.Ser846Ser Synonymous 11/27 - 1
13-32911031-AGA-CAT c.2539_2541delinsCAT p.Arg847His Missense 11/27 - 1
13-32911034-A-C c.2542A>C p.Lys848Gln Missense 11/27 - 1
13-32911038-T-C c.2546T>C p.Val849Ala Missense 11/27 - 1
13-32911040-C-CCC c.2548_2549insCC p.Gln850Profs*9 Frameshift 11/27 - 2
13-32911053-A-AA c.2561dup p.Asn854Lysfs*27 Frameshift 11/27 - 1
13-32911056-ACA-A c.2564_2565del p.Thr855Lysfs*25 Frameshift 11/27 - 1
13-32911058-A-T c.2566A>T p.Asn856Tyr Missense 11/27 - 1
13-32911060-T-G c.2568T>G p.Asn856Lys Missense 11/27 - 1
13-32911065-G-T c.2573G>T p.Arg858Ile Missense 11/27 - 1
13-32911066-A-AA c.2574dup p.Val859Serfs*22 Frameshift 11/27 - 1
13-32911067-GT-TC c.2575_2576delinsTC p.Val859Ser Missense 11/27 - 1
13-32911070-AA-A c.2578del p.Ile860Serfs*14 Frameshift 11/27 - 1
13-32911076-A-G c.2584A>G p.Lys862Glu Missense 11/27 - 1
13-32911079-AA-GC c.2587_2588delinsGC p.Asn863Ala Missense 11/27 - 1
13-32911080-A-AA c.2588dup p.Asn863Lysfs*18 Frameshift 11/27 - 4
13-32911081-T-A c.2589T>A p.Asn863Lys Missense 11/27 - 1
13-32911081-T-G c.2589T>G p.Asn863Lys Missense 11/27 - 1
13-32911081-AT-A c.2589del p.Gln864Lysfs*10 Frameshift 11/27 - 2
13-32911082-C-T c.2590C>T p.Gln864* Nonsense 11/27 - 1
13-32911087-AA-A c.2595del p.Glu866Lysfs*8 Frameshift 11/27 - 2
13-32911094-A-G c.2602A>G p.Thr868Ala Missense 11/27 - 1
13-32911098-C-T c.2606C>T p.Ser869Leu Missense 11/27 - 2
13-32911103-TT-T c.2611del p.Ser871Glnfs*3 Frameshift 11/27 - 1
13-32911104-C-T c.2612C>T p.Ser871Leu Missense 11/27 - 5
13-32911104-C-A c.2612C>A p.Ser871* Nonsense 11/27 - 1
13-32911104-C-G c.2612C>G p.Ser871* Nonsense 11/27 - 1
13-32911111-A-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 - 3
13-32911133-G-T c.2641G>T p.Glu881* Nonsense 11/27 - 2
13-32911143-C-G c.2651C>G p.Ser884* Nonsense 11/27 - 1
13-32911145-AGACA-A c.2653_2656del p.Asp885Metfs*9 Frameshift 11/27 - 1
13-32911149-A-T c.2657A>T p.Asn886Ile Missense 11/27 - 1
13-32911164-T-TT c.2672dup p.Phe892Leufs*5 Frameshift 11/27 - 1
13-32911168-TCCAA-T c.2676_2679del p.Phe892Leufs*2 Frameshift 11/27 - 1
13-32911170-A-G c.2678A>G p.Gln893Arg Missense 11/27 - 1
13-32911172-G-A c.2680G>A p.Val894Ile Missense 11/27 - 2
13-32911175-G-A c.2683G>A p.Ala895Thr Missense 11/27 - 1
13-32911176-GC-G c.2684del p.Ala895Valfs*9 Frameshift 11/27 - 1
13-32911179-AA-A c.2687del p.Asn896Metfs*8 Frameshift 11/27 - 1
13-32911184-A-G c.2692A>G p.Arg898Gly Missense 11/27 - 1
13-32911186-G-GG c.2694dup p.Asn899Glufs*2 Frameshift 11/27 - 1
13-32911193-C-A c.2701C>A p.Leu901Ile Missense 11/27 - 1
13-32911193-TC-T c.2701del p.Ala902Leufs*2 Frameshift 11/27 - 4
13-32911208-A-G c.2716A>G p.Thr906Ala Missense 11/27 - 1
13-32911214-G-T c.2722G>T p.Glu908* Nonsense 11/27 - 2
13-32911220-C-T c.2728C>T p.His910Tyr Missense 11/27 - 1
13-32911221-A-G c.2729A>G p.His910Arg Missense 11/27 - 1
13-32911222-T-C c.2730T>C p.His910His Synonymous 11/27 - 1
13-32911223-TG-T c.2731del p.Glu911Lysfs*4 Frameshift 11/27 - 1
13-32911226-A-AA c.2734dup p.Thr912Asnfs*24 Frameshift 11/27 - 1
13-32911231-C-T c.2739C>T p.Asp913Asp Synonymous 11/27 - 1
13-32911238-TG-AC c.2746_2747delinsAC p.Cys916Thr Missense 11/27 - 1
13-32911246-AC-A c.2754del p.Asn918Lysfs*42 Frameshift 11/27 - 1
13-32911247-G-A c.2755G>A p.Glu919Lys Missense 11/27 - 1
13-32911250-C-T c.2758C>T p.Pro920Ser Missense 11/27 - 1
13-32911267-T-TT c.2775dup p.Thr926Tyrfs*10 Frameshift 11/27 - 1
13-32911271-A-G c.2779A>G p.Met927Val Missense 11/27 - 2
13-32911273-G-A c.2781G>A p.Met927Ile Missense 11/27 - 1
13-32911273-G-T c.2781G>T p.Met927Ile Missense 11/27 - 1
13-32911273-G-C c.2781G>C p.Met927Ile Missense 11/27 - 1
13-32911278-T-TT c.2786dup p.Leu929Phefs*7 Frameshift 11/27 - 2
13-32911278-T-C c.2786T>C p.Leu929Ser Missense 11/27 - 6
13-32911278-TT-T c.2786del p.Leu929Tyrfs*31 Frameshift 11/27 - 1
13-32911286-G-A c.2794G>A p.Asp932Asn Missense 11/27 - 1
13-32911290-AC-A c.2798del p.Thr933Lysfs*27 Frameshift 11/27 - 1
13-32911290-ACA-A c.2798_2799del p.Thr933Argfs*2 Frameshift 11/27 - 8
13-32911295-G-C c.2803G>C p.Asp935His Missense 11/27 - 1
13-32911295-G-A c.2803G>A p.Asp935Asn Missense 11/27 - 10
13-32911297-T-TT c.2805dup p.Lys936* Nonsense 11/27 - 5
13-32911300-AACAA-A c.2808_2811del p.Ala938Profs*21 Frameshift 11/27 - 72
13-32911300-AA-A c.2808del p.Lys936Asnfs*24 Frameshift 11/27 - 7
13-32911301-C-A c.2809C>A p.Gln937Lys Missense 11/27 - 1
13-32911301-AC-A c.2809del p.Gln937Lysfs*23 Frameshift 11/27 - 1
13-32911309-C-T c.2817C>T p.Thr939Thr Synonymous 11/27 - 1
13-32911311-A-G c.2819A>G p.Gln940Arg Missense 11/27 - 1
13-32911312-AA-A c.2820del p.Val941Cysfs*19 Frameshift 11/27 - 1
13-32911313-G-A c.2821G>A p.Val941Met Missense 11/27 - 1
13-32911316-GT-G c.2824del p.Ser942Glnfs*18 Frameshift 11/27 - 1
13-32911320-ATTAA-A c.2828_2831del p.Ile943Lysfs*16 Frameshift 11/27 - 1
13-32911322-A-T c.2830A>T p.Lys944* Nonsense 11/27 - 18
13-32911327-AA-A c.2835del p.Asp946Ilefs*14 Frameshift 11/27 - 1
13-32911329-A-G c.2837A>G p.Asp946Gly Missense 11/27 - 1
13-32911334-G-A c.2842G>A p.Val948Ile Missense 11/27 - 1
13-32911337-TT-T c.2845del p.Tyr949Metfs*11 Frameshift 11/27 - 3
13-32911338-A-AA c.2846dup p.Tyr949* Nonsense 11/27 - 1
13-32911340-G-A c.2848G>A p.Val950Ile Missense 11/27 - 2
13-32911340-G-C c.2848G>C p.Val950Leu Missense 11/27 - 1
13-32911343-C-A c.2851C>A p.Leu951Ile Missense 11/27 - 1
13-32911346-GCA-ATG c.2854_2856delinsATG p.Ala952Met Missense 11/27 - 1
13-32911349-G-T c.2857G>T p.Glu953* Nonsense 11/27 - 1
13-32911352-G-T c.2860G>T p.Glu954* Nonsense 11/27 - 1
13-32911357-AC-A c.2865del p.Asn955Lysfs*5 Frameshift 11/27 - 1
13-32911359-A-C c.2867A>C p.Lys956Thr Missense 11/27 - 1
13-32911360-A-AT c.2868_2869insT p.Asn957* Nonsense 11/27 - 1
13-32911375-G-A c.2883G>A p.Gln961Gln Synonymous 11/27 - 3
13-32911384-A-T c.2892A>T p.Lys964Asn Missense 11/27 - 1
13-32911387-G-C c.2895G>C p.Met965Ile Missense 11/27 - 1
13-32911387-G-A c.2895G>A p.Met965Ile Missense 11/27 - 1
13-32911387-G-T c.2895G>T p.Met965Ile Missense 11/27 - 1
13-32911391-TCT-T c.2899_2900del p.Leu967Argfs*14 Frameshift 11/27 - 2
13-32911393-A-ACT c.2901_2902insCT p.Gly968Leufs*5 Frameshift 11/27 - 1
13-32911397-C-T c.2905C>T p.Gln969* Nonsense 11/27 - 4
13-32911404-T-C c.2912T>C p.Leu971Ser Missense 11/27 - 1
13-32911410-C-A c.2918C>A p.Ser973* Nonsense 11/27 - 1
13-32911411-G-A c.2919G>A p.Ser973Ser Synonymous 11/27 - 1
13-32911416-T-G c.2924T>G p.Ile975Ser Missense 11/27 - 1
13-32911418-TC-AT c.2926_2927delinsAT p.Ser976Ile Missense 11/27 - 2
13-32911420-CC-C c.2928del p.Leu977* Frameshift 11/27 - 1
13-32911426-T-G c.2934T>G p.Asn978Lys Missense 11/27 - 1
13-32911429-TA-T c.2937del p.Ile979Metfs*12 Frameshift 11/27 - 1
13-32911436-A-C c.2944A>C p.Ile982Leu Missense 11/27 - 3
13-32911436-AA-A c.2944del p.Ile982Tyrfs*9 Frameshift 11/27 - 1
13-32911437-ATA-A c.2945_2946del p.Ile982Thrfs*5 Frameshift 11/27 - 1
13-32911442-G-T c.2950G>T p.Glu984* Nonsense 11/27 - 1
13-32911449-AA-A c.2957del p.Asn986Ilefs*5 Frameshift 11/27 - 2
13-32911449-A-AA c.2957dup p.Asn986Lysfs*2 Frameshift 11/27 - 1
13-32911449-A-AG c.2957_2958insG p.Asn986Lysfs*2 Frameshift 11/27 - 2
13-32911452-A-T c.2960A>T p.Asn987Ile Missense 11/27 - 4
13-32911463-A-G c.2971A>G p.Asn991Asp Missense 11/27 - 64
13-32911464-A-G c.2972A>G p.Asn991Ser Missense 11/27 - 1
13-32911481-T-TAA c.2989_2990insAA p.Leu997* Nonsense 11/27 - 1
13-32911482-T-G c.2990T>G p.Leu997* Nonsense 11/27 - 2
13-32911485-G-A c.2993G>A p.Gly998Asp Missense 11/27 - 2
13-32911494-C-G c.3002C>G p.Ser1001* Nonsense 11/27 - 1
13-32911494-C-A c.3002C>A p.Ser1001* Nonsense 11/27 - 1
13-32911499-C-G c.3007C>G p.His1003Asp Missense 11/27 - 1
13-32911503-G-A c.3011G>A p.Ser1004Asn Missense 11/27 - 1
13-32911507-TT-T c.3015del p.Phe1005Leufs*38 Frameshift 11/27 - 1
13-32911509-GGAGG-G c.3017_3020del p.Gly1006Valfs*36 Frameshift 11/27 - 1
13-32911510-GA-G c.3018del p.Gly1007Valfs*36 Frameshift 11/27 - 2
13-32911514-AG-GC c.3022_3023delinsGC p.Ser1008Ala Missense 11/27 - 1
13-32911521-G-A c.3029G>A p.Arg1010Lys Missense 11/27 - 1
13-32911523-A-G c.3031A>G p.Thr1011Ala Missense 11/27 - 1
13-32911524-C-G c.3032C>G p.Thr1011Arg Missense 11/27 - 5
13-32911526-AG-A c.3034del p.Ala1012Leufs*31 Frameshift 11/27 - 3
13-32911528-CTTCA-C c.3036_3039del p.Ser1013Ilefs*29 Frameshift 11/27 - 1
13-32911533-A-G c.3041A>G p.Asn1014Ser Missense 11/27 - 1
13-32911533-AATAA-A c.3041_3044del p.Asn1014Argfs*28 Frameshift 11/27 - 1
13-32911538-G-T c.3046G>T p.Glu1016* Nonsense 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
13-32911547-C-G c.3055C>G p.Leu1019Val Missense 11/27 - 4
13-32911548-T-C c.3056T>C p.Leu1019Pro Missense 11/27 - 1
13-32911560-A-AA c.3068dup p.Asn1023Lysfs*3 Frameshift 11/27 - 2
13-32911561-ACATTAA-A c.3069_3074del p.Asn1023_Ile1024del InFrameDeletion 11/27 - 1
13-32911567-GA-TT c.3075_3076delinsTT p.Lys1025_Lys1026delinsAsn* MultiAAMissense 11/27 - 1
13-32911567-G-T c.3075G>T p.Lys1025Asn Missense 11/27 - 1
13-32911568-A-T c.3076A>T p.Lys1026* Nonsense 11/27 - 2
13-32911578-AT-A c.3086del p.Met1029Serfs*14 Frameshift 11/27 - 2
13-32911580-T-G c.3088T>G p.Phe1030Val Missense 11/27 - 1
13-32911587-A-T c.3095A>T p.Lys1032Ile Missense 11/27 - 1
13-32911588-AAGATATTGAAGAACAA-A c.3096_3111del p.Lys1032Asnfs*6 Frameshift 11/27 - 1
13-32911595-G-T c.3103G>T p.Glu1035* Nonsense 11/27 - 1
13-32911596-A-G c.3104A>G p.Glu1035Gly Missense 11/27 - 1
13-32911601-C-T c.3109C>T p.Gln1037* Nonsense 11/27 - 35
13-32911605-A-G c.3113A>G p.Tyr1038Cys Missense 11/27 - 5
13-32911606-T-A c.3114T>A p.Tyr1038* Nonsense 11/27 - 1
13-32911606-T-G c.3114T>G p.Tyr1038* Nonsense 11/27 - 1
13-32911617-T-G c.3125T>G p.Leu1042* Nonsense 11/27 - 1
13-32911617-T-A c.3125T>A p.Leu1042* Nonsense 11/27 - 1
13-32911620-C-G c.3128C>G p.Ala1043Gly Missense 11/27 - 1
13-32911623-G-T c.3131G>T p.Cys1044Phe Missense 11/27 - 1
13-32911633-T-G c.3141T>G p.Ile1047Met Missense 11/27 - 1
13-32911650-T-G c.3158T>G p.Leu1053* Nonsense 11/27 - 7
13-32911654-T-TT c.3162dup p.Asn1055* Nonsense 11/27 - 1
13-32911657-ATCAA-A c.3165_3168del p.Asn1055Lysfs*4 Frameshift 11/27 - 1
13-32911658-C-T c.3166C>T p.Gln1056* Nonsense 11/27 - 3
13-32911659-CAAAA-C c.3167_3170del p.Gln1056Argfs*3 Frameshift 11/27 - 1
13-32911662-AAGAAA-A c.3170_3174del p.Lys1057Thrfs*8 Frameshift 11/27 - 8
13-32911662-A-G c.3170A>G p.Lys1057Arg Missense 11/27 - 1
13-32911663-G-A c.3171G>A p.Lys1057Lys Synonymous 11/27 - 1
13-32911665-A-G c.3173A>G p.Lys1058Arg Missense 11/27 - 1
13-32911667-CT-TA c.3175_3176delinsTA p.Leu1059* Nonsense 11/27 - 1
13-32911674-AA-A c.3182del p.Lys1061Serfs*16 Frameshift 11/27 - 1
13-32911676-C-T c.3184C>T p.Pro1062Ser Missense 11/27 - 1
13-32911679-C-A c.3187C>A p.Gln1063Lys Missense 11/27 - 1
13-32911681-AGTCA-A c.3189_3192del p.Ser1064Leufs*12 Frameshift 11/27 - 3
13-32911687-TTAAT-T c.3195_3198del p.Asn1066Leufs*10 Frameshift 11/27 - 12
13-32911689-A-AA c.3197dup p.Asn1066Lysfs*10 Frameshift 11/27 - 1
13-32911691-TA-T c.3199del p.Thr1067Leufs*10 Frameshift 11/27 - 1
13-32911694-TG-T c.3202del p.Val1068Tyrfs*9 Frameshift 11/27 - 1
13-32911698-C-T c.3206C>T p.Ser1069Phe Missense 11/27 - 1
13-32911703-C-T c.3211C>T p.His1071Tyr Missense 11/27 - 1
13-32911710-A-G c.3218A>G p.Gln1073Arg Missense 11/27 - 3
13-32911712-A-T c.3220A>T p.Ser1074Cys Missense 11/27 - 1
13-32911720-TAG-T c.3228_3229del p.Val1077Cysfs*3 Frameshift 11/27 - 5
13-32911727-TT-T c.3235del p.Ser1079Leufs*8 Frameshift 11/27 - 1
13-32911731-A-C c.3239A>C p.Asp1080Ala Missense 11/27 - 1
13-32911739-A-G c.3247A>G p.Asn1083Asp Missense 11/27 - 1
13-32911748-A-G c.3256A>G p.Ile1086Val Missense 11/27 - 1
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
13-32911754-C-T c.3262C>T p.Pro1088Ser Missense 11/27 - 2
13-32911755-C-CC c.3263dup p.Gln1089Serfs*10 Frameshift 11/27 - 1
13-32911756-T-C c.3264T>C p.Pro1088Pro Synonymous 11/27 - 2
13-32911756-T-TT c.3264dup p.Gln1089Serfs*10 Frameshift 11/27 - 11
13-32911757-C-T c.3265C>T p.Gln1089* Nonsense 11/27 - 4
13-32911758-CA-C c.3266del p.Gln1089Argfs*15 Frameshift 11/27 - 1
13-32911761-AT-A c.3269del p.Met1090Serfs*14 Frameshift 11/27 - 2
13-32911778-GG-G c.3286del p.Asp1096Ilefs*8 Frameshift 11/27 - 2
13-32911788-C-A c.3296C>A p.Ser1099* Nonsense 11/27 - 2
13-32911788-C-G c.3296C>G p.Ser1099* Nonsense 11/27 - 2
13-32911790-AAAC-A c.3298_3300del p.Asn1100del InFrameDeletion 11/27 - 1
13-32911791-A-C c.3299A>C p.Asn1100Thr Missense 11/27 - 1
13-32911794-A-G c.3302A>G p.His1101Arg Missense 11/27 - 1
13-32911796-A-T c.3304A>T p.Asn1102Tyr Missense 11/27 - 3
13-32911802-A-AA c.3310dup p.Thr1104Asnfs*3 Frameshift 11/27 - 1
13-32911808-A-G c.3316A>G p.Ser1106Gly Missense 11/27 - 1
13-32911810-C-G c.3318C>G p.Ser1106Arg Missense 11/27 - 2
13-32911810-C-A c.3318C>A p.Ser1106Arg Missense 11/27 - 1
13-32911811-C-T c.3319C>T p.Gln1107* Nonsense 11/27 - 1
13-32911813-A-C c.3321A>C p.Gln1107His Missense 11/27 - 1
13-32911814-A-T c.3322A>T p.Lys1108* Nonsense 11/27 - 1
13-32911818-C-T c.3326C>T p.Ala1109Val Missense 11/27 - 1
13-32911820-G-A c.3328G>A p.Glu1110Lys Missense 11/27 - 1
13-32911821-A-T c.3329A>T p.Glu1110Val Missense 11/27 - 1
13-32911829-G-T c.3337G>T p.Glu1113* Nonsense 11/27 - 1
13-32911835-TT-T c.3343del p.Ser1115Leufs*4 Frameshift 11/27 - 1
13-32911837-CT-C c.3345del p.Thr1116Leufs*3 Frameshift 11/27 - 1
13-32911841-A-G c.3349A>G p.Ile1117Val Missense 11/27 - 2
13-32911845-T-A c.3353T>A p.Leu1118* Nonsense 11/27 - 1
13-32911845-T-G c.3353T>G p.Leu1118* Nonsense 11/27 - 1
13-32911854-C-G c.3362C>G p.Ser1121* Nonsense 11/27 - 2
13-32911854-C-A c.3362C>A p.Ser1121* Nonsense 11/27 - 2
13-32911857-GG-G c.3365del p.Gly1122Glufs*28 Frameshift 11/27 - 1
13-32911862-C-G c.3370C>G p.Gln1124Glu Missense 11/27 - 1
13-32911868-G-A c.3376G>A p.Glu1126Lys Missense 11/27 - 1
13-32911873-TT-T c.3381del p.Phe1127Leufs*23 Frameshift 11/27 - 8
13-32911877-C-T c.3385C>T p.Gln1129* Nonsense 11/27 - 1
13-32911887-A-G c.3395A>G p.Lys1132Arg Missense 11/27 - 1
13-32911888-A-C c.3396A>C p.Lys1132Asn Missense 11/27 - 15
13-32911888-A-G c.3396A>G p.Lys1132Lys Synonymous 11/27 - 45
13-32911890-CC-C c.3398del p.Pro1133Glnfs*17 Frameshift 11/27 - 1
13-32911897-C-A c.3405C>A p.Tyr1135* Nonsense 11/27 - 1
13-32911900-A-AA c.3408dup p.Leu1137Ilefs*7 Frameshift 11/27 - 2
13-32911906-G-A c.3414G>A p.Gln1138Gln Synonymous 11/27 - 1
13-32911910-A-G c.3418A>G p.Ser1140Gly Missense 11/27 - 1
13-32911912-T-TT c.3420dup p.Thr1141Tyrfs*3 Frameshift 11/27 - 1
13-32911912-T-C c.3420T>C p.Ser1140Ser Synonymous 11/27 - 1
13-32911917-T-C c.3425T>C p.Phe1142Ser Missense 11/27 - 1
13-32911935-A-G c.3443A>G p.Gln1148Arg Missense 11/27 - 1
13-32911937-A-G c.3445A>G p.Met1149Val Missense 11/27 - 6
13-32911940-A-T c.3448A>T p.Thr1150Ser Missense 11/27 - 1
13-32911947-T-G c.3455T>G p.Leu1152* Nonsense 11/27 - 1
13-32911952-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-T c.3462C>T p.Thr1154Thr Synonymous 11/27 - 2
13-32911954-C-G c.3462C>G p.Thr1154Thr Synonymous 11/27 - 2
13-32911971-G-A c.3479G>A p.Arg1160Lys Missense 11/27 - 3
13-32911973-AGATGCTGATCT-A c.3481_3491del p.Asp1161Serfs*19 Frameshift 11/27 - 1
13-32911979-TGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATT-T c.3487_3545del p.Asp1163* Frameshift 11/27 - 1
13-32911979-TG-T c.3487del p.Asp1163Ilefs*5 Frameshift 11/27 - 1
13-32911984-T-TT c.3492dup p.His1165Serfs*19 Frameshift 11/27 - 1
13-32911991-A-G c.3499A>G p.Ile1167Val Missense 11/27 - 1
13-32911996-G-T c.3504G>T p.Met1168Ile Missense 11/27 - 2
13-32912000-G-C c.3508G>C p.Ala1170Pro Missense 11/27 - 1
13-32912001-C-T c.3509C>T p.Ala1170Val Missense 11/27 - 3
13-32912007-C-G c.3515C>G p.Ser1172Trp Missense 11/27 - 1
13-32912007-C-T c.3515C>T p.Ser1172Leu Missense 11/27 - 8
13-32912008-G-T c.3516G>T p.Ser1172Ser Synonymous 11/27 - 1
13-32912008-G-A c.3516G>A p.Ser1172Ser Synonymous 11/27 - 2
13-32912008-G-C c.3516G>C p.Ser1172Ser Synonymous 11/27 - 1
13-32912011-T-G c.3519T>G p.Ile1173Met Missense 11/27 - 1
13-32912030-A-C c.3538A>C p.Lys1180Gln Missense 11/27 - 1
13-32912033-C-T c.3541C>T p.Gln1181* Nonsense 11/27 - 1
13-32912037-TTT-T c.3545_3546del p.Phe1182* Frameshift 11/27 - 7
13-32912039-G-C c.3547G>C p.Glu1183Gln Missense 11/27 - 1
13-32912040-A-G c.3548A>G p.Glu1183Gly Missense 11/27 - 7
13-32912043-G-C c.3551G>C p.Gly1184Ala Missense 11/27 - 1
13-32912050-T-A c.3558T>A p.Val1186Val Synonymous 11/27 - 1
13-32912051-G-T c.3559G>T p.Glu1187* Nonsense 11/27 - 1
13-32912054-A-G c.3562A>G p.Ile1188Val Missense 11/27 - 1
13-32912060-C-T c.3568C>T p.Arg1190Trp Missense 11/27 - 5
13-32912061-G-A c.3569G>A p.Arg1190Gln Missense 11/27 - 1
13-32912067-T-G c.3575T>G p.Phe1192Cys Missense 11/27 - 2
13-32912073-G-A c.3581G>A p.Gly1194Asp Missense 11/27 - 3
13-32912075-CC-C c.3583del p.Leu1195Cysfs*2 Frameshift 11/27 - 1
13-32912079-T-A c.3587T>A p.Leu1196* Nonsense 11/27 - 1
13-32912088-GACTG-G c.3596_3599del p.Asp1199Valfs*9 Frameshift 11/27 - 2
13-32912090-T-TAAT c.3598_3599insAAT p.Asp1199_Cys1200ins* InFrameInsertion 11/27 - 1
13-32912090-T-TA c.3598_3599insA p.Cys1200* Nonsense 11/27 - 2
13-32912091-TGT-T c.3599_3600del p.Cys1200* Frameshift 11/27 - 11
13-32912092-T-A c.3600T>A p.Cys1200* Nonsense 11/27 - 1
13-32912095-C-CT c.3603_3604insT p.Lys1202* Nonsense 11/27 - 1
13-32912098-AAA-A c.3606_3607del p.Ser1203Cysfs*8 Frameshift 11/27 - 1
13-32912116-A-G c.3624A>G p.Leu1208Leu Synonymous 11/27 - 1
13-32912119-A-AA c.3627dup p.Asp1210Argfs*2 Frameshift 11/27 - 5
13-32912120-AGA-A c.3628_3629del p.Asp1210* Frameshift 11/27 - 1
13-32912131-AAGTGGGGTTTAGGG-A c.3639_3652del p.Val1214Leufs*14 Frameshift 11/27 - 1
13-32912132-G-T c.3640G>T p.Val1214Leu Missense 11/27 - 1
13-32912137-GT-TAAAAAG c.3645_3646delinsTAAAAAG p.Phe1216Lysfs*14 Frameshift 11/27 - 1
13-32912149-T-A c.3657T>A p.Phe1219Leu Missense 11/27 - 1
13-32912149-T-G c.3657T>G p.Phe1219Leu Missense 11/27 - 1
13-32912147-T-C c.3655T>C p.Phe1219Leu Missense 11/27 - 1
13-32912153-T-C c.3661T>C p.Ser1221Pro Missense 11/27 - 1
13-32912154-C-A c.3662C>A p.Ser1221Tyr Missense 11/27 - 1
13-32912167-A-G c.3675A>G p.Thr1225Thr Synonymous 11/27 - 1
13-32912167-A-C c.3675A>C p.Thr1225Thr Synonymous 11/27 - 1
13-32912167-A-T c.3675A>T p.Thr1225Thr Synonymous 11/27 - 1
13-32912172-CTG-C c.3680_3681del p.Leu1227Glnfs*5 Frameshift 11/27 - 4
13-32912174-A-G c.3682A>G p.Asn1228Asp Missense 11/27 - 3
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
13-32912181-TC-T c.3689del p.Ser1230Leufs*9 Frameshift 11/27 - 1
13-32912181-C-T c.3689C>T p.Ser1230Phe Missense 11/27 - 1
13-32912185-T-C c.3693T>C p.Thr1231Thr Synonymous 11/27 - 1
13-32912189-G-A c.3697G>A p.Ala1233Thr Missense 11/27 - 1
13-32912190-C-T c.3698C>T p.Ala1233Val Missense 11/27 - 1
13-32912192-TCTGCA-T c.3700_3704del p.Leu1234Lysfs*7 Frameshift 11/27 - 3
13-32912210-C-T c.3718C>T p.Leu1240Leu Synonymous 11/27 - 1
13-32912212-TGT-T c.3720_3721del p.Phe1241* Frameshift 11/27 - 1
13-32912215-T-G c.3723T>G p.Phe1241Leu Missense 11/27 - 2
13-32912215-TT-T c.3723del p.Phe1241Leufs*18 Frameshift 11/27 - 1
13-32912236-GTGAG-G c.3744_3747del p.Ser1248Argfs*10 Frameshift 11/27 - 11
13-32912240-G-T c.3748G>T p.Glu1250* Nonsense 11/27 - 4
13-32912241-A-G c.3749A>G p.Glu1250Gly Missense 11/27 - 1
13-32912243-A-AA c.3751dup p.Thr1251Asnfs*14 Frameshift 11/27 - 2
13-32912251-A-AA c.3759dup p.Glu1254Argfs*11 Frameshift 11/27 - 1
13-32912252-G-T c.3760G>T p.Glu1254* Nonsense 11/27 - 1
13-32912274-C-G c.3782C>G p.Ser1261Cys Missense 11/27 - 1
13-32912277-C-A c.3785C>A p.Ser1262* Nonsense 11/27 - 1
13-32912285-T-A c.3793T>A p.Cys1265Ser Missense 11/27 - 2
13-32912286-G-T c.3794G>T p.Cys1265Phe Missense 11/27 - 1
13-32912299-T-C c.3807T>C p.Val1269Val Synonymous 11/27 - 46
13-32912299-T-G c.3807T>G p.Val1269Val Synonymous 11/27 - 39
13-32912306-AA-A c.3814del p.Met1272Cysfs*4 Frameshift 11/27 - 1
13-32912311-TT-T c.3819del p.Phe1273Leufs*3 Frameshift 11/27 - 1
13-32912313-AAGATA-A c.3821_3825del p.Lys1274Argfs*4 Frameshift 11/27 - 1
13-32912315-A-G c.3823A>G p.Ile1275Val Missense 11/27 - 2
13-32912317-A-G c.3825A>G p.Ile1275Met Missense 11/27 - 1
13-32912318-G-T c.3826G>T p.Glu1276* Nonsense 11/27 - 1
13-32912328-AA-A c.3836del p.Asn1279Metfs*5 Frameshift 11/27 - 1
13-32912330-TGATAAAACTGTAAGTGAAAAAAATAAT-T c.3838_3864del p.Asp1280_Asn1288del InFrameDeletion 11/27 - 1
13-32912331-A-T c.3839A>T p.Asp1280Val Missense 11/27 - 3
13-32912339-TGT-T c.3847_3848del p.Val1283Lysfs*2 Frameshift 11/27 - 32
13-32912350-AAAA-A c.3858_3860del p.Lys1286del InFrameDeletion 11/27 - 1
13-32912350-A-AT c.3858_3859insT p.Asn1287* Nonsense 11/27 - 1
13-32912352-AA-A c.3860del p.Asn1287Ilefs*6 Frameshift 11/27 - 14
13-32912356-ATAA-A c.3864_3866del p.Asn1288del InFrameDeletion 11/27 - 1
13-32912361-G-A c.3869G>A p.Cys1290Tyr Missense 11/27 - 6
13-32912365-AA-A c.3873del p.Gln1291Hisfs*2 Frameshift 11/27 - 1
13-32912371-TAT-T c.3879_3880del p.Leu1294Thrfs*3 Frameshift 11/27 - 1
13-32912375-C-T c.3883C>T p.Gln1295* Nonsense 11/27 - 3
13-32912387-G-T c.3895G>T p.Glu1299* Nonsense 11/27 - 3
13-32912388-A-T c.3896A>T p.Glu1299Val Missense 11/27 - 2
13-32912396-TACT-T c.3904_3906del p.Thr1302del InFrameDeletion 11/27 - 1
13-32912396-A-G c.3904A>G p.Thr1302Ala Missense 11/27 - 1
13-32912408-G-A c.3916G>A p.Val1306Ile Missense 11/27 - 3
13-32912411-TG-T c.3919del p.Glu1307Lysfs*28 Frameshift 11/27 - 1
13-32912414-G-T c.3922G>T p.Glu1308* Nonsense 11/27 - 17
13-32912419-TT-T c.3927del p.Thr1310Leufs*25 Frameshift 11/27 - 1
13-32912431-AC-A c.3939del p.Tyr1313* Frameshift 11/27 - 1
13-32912432-CAA-C c.3940_3941del p.Lys1314Glufs*4 Frameshift 11/27 - 1
13-32912454-A-G c.3962A>G p.Asp1321Gly Missense 11/27 - 2
13-32912459-A-T c.3967A>T p.Lys1323* Nonsense 11/27 - 1
13-32912461-AA-A c.3969del p.Lys1323Asnfs*12 Frameshift 11/27 - 1
13-32912464-ATACT-A c.3972_3975del p.Tyr1324* Frameshift 11/27 - 1
13-32912465-TA-T c.3973del p.Thr1325Leufs*10 Frameshift 11/27 - 1
13-32912473-C-CTGCA c.3981_3982insTGCA p.Ser1328Cysfs*3 Frameshift 11/27 - 1
13-32912497-A-AA c.4005dup p.Phe1336Ilefs*2 Frameshift 11/27 - 1
13-32912498-T-TA c.4006_4007insA p.Phe1336Tyrfs*2 Frameshift 11/27 - 1
13-32912504-G-A c.4012G>A p.Gly1338Ser Missense 11/27 - 1
13-32912504-G-T c.4012G>T p.Gly1338Cys Missense 11/27 - 1
13-32912513-TT-T c.4021del p.Ser1341Glnfs*33 Frameshift 11/27 - 2
13-32912521-A-ACACA c.4029_4030insCACA p.Asn1344Hisfs*3 Frameshift 11/27 - 1
13-32912526-GA-G c.4034del p.Asp1345Valfs*29 Frameshift 11/27 - 4
13-32912527-T-C c.4035T>C p.Asp1345Asp Synonymous 11/27 - 1
13-32912527-AT-A c.4035del p.Asp1345Glufs*29 Frameshift 11/27 - 1
13-32912533-TTT-T c.4041_4042del p.Cys1348Tyrfs*3 Frameshift 11/27 - 1
13-32912538-T-C c.4046T>C p.Ile1349Thr Missense 11/27 - 3
13-32912546-G-A c.4054G>A p.Asp1352Asn Missense 11/27 - 2
13-32912546-G-T c.4054G>T p.Asp1352Tyr Missense 11/27 - 5
13-32912553-C-T c.4061C>T p.Thr1354Met Missense 11/27 - 6
13-32912560-G-A c.4068G>A p.Leu1356Leu Synonymous 11/27 - 4
13-32912570-TG-T c.4078del p.Asp1360Ilefs*14 Frameshift 11/27 - 1
13-32912573-C-T c.4081C>T p.Gln1361* Nonsense 11/27 - 1
13-32912577-CA-C c.4085del p.His1362Profs*12 Frameshift 11/27 - 2
13-32912582-A-T c.4090A>T p.Ile1364Leu Missense 11/27 - 1
13-32912582-A-C c.4090A>C p.Ile1364Leu Missense 11/27 - 1
13-32912584-TAT-T c.4092_4093del p.Ile1364Metfs*3 Frameshift 11/27 - 1
13-32912586-G-A c.4094G>A p.Cys1365Tyr Missense 11/27 - 4
13-32912587-T-A c.4095T>A p.Cys1365* Nonsense 11/27 - 1
13-32912602-C-T c.4110C>T p.Gly1370Gly Synonymous 11/27 - 1
13-32912603-C-T c.4111C>T p.Gln1371* Nonsense 11/27 - 3
13-32912613-AA-A c.4121del p.Lys1374Argfs*14 Frameshift 11/27 - 1
13-32912615-G-T c.4123G>T p.Glu1375* Nonsense 11/27 - 1
13-32912618-G-T c.4126G>T p.Gly1376* Nonsense 11/27 - 2
13-32912619-G-C c.4127G>C p.Gly1376Ala Missense 11/27 - 1
13-32912621-A-G c.4129A>G p.Asn1377Asp Missense 11/27 - 1
13-32912623-C-CTGAGGA c.4131_4132insTGAGGA p.Asn1377_Thr1378ins* Nonsense 11/27 - 3
13-32912624-CAC-C c.4132_4133del p.Thr1378Serfs*3 Frameshift 11/27 - 1
13-32912625-ACTCA-A c.4133_4136del p.Thr1378Argfs*9 Frameshift 11/27 - 2
13-32912628-A-G c.4136A>G p.Gln1379Arg Missense 11/27 - 1
13-32912636-G-A c.4144G>A p.Glu1382Lys Missense 11/27 - 1
13-32912638-AAGA-A c.4146_4148del p.Glu1382del InFrameDeletion 11/27 - 2
13-32912643-TT-T c.4151del p.Leu1384Cysfs*4 Frameshift 11/27 - 2
13-32912646-C-T c.4154C>T p.Ser1385Leu Missense 11/27 - 1
13-32912655-C-A c.4163C>A p.Thr1388Asn Missense 11/27 - 1
13-32912663-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
13-32912675-G-T c.4183G>T p.Ala1395Ser Missense 11/27 - 1
13-32912679-A-G c.4187A>G p.Gln1396Arg Missense 11/27 - 4
13-32912699-A-AA c.4207dup p.Thr1403Asnfs*4 Frameshift 11/27 - 1
13-32912699-A-G c.4207A>G p.Thr1403Ala Missense 11/27 - 1
13-32912700-C-T c.4208C>T p.Thr1403Ile Missense 11/27 - 1
13-32912703-C-G c.4211C>G p.Ser1404* Nonsense 11/27 - 2
13-32912710-AAGAA-A c.4218_4221del p.Lys1406Asnfs*3 Frameshift 11/27 - 1
13-32912714-C-T c.4222C>T p.Gln1408* Nonsense 11/27 - 3
13-32912715-CA-C c.4223del p.Gln1408Argfs*2 Frameshift 11/27 - 1
13-32912723-G-A c.4231G>A p.Ala1411Thr Missense 11/27 - 1
13-32912732-AA-A c.4240del p.Thr1414Argfs*5 Frameshift 11/27 - 2
13-32912733-C-T c.4241C>T p.Thr1414Met Missense 11/27 - 3
13-32912735-GG-G c.4243del p.Glu1415Serfs*4 Frameshift 11/27 - 1
13-32912744-A-G c.4252A>G p.Ile1418Val Missense 11/27 - 1
13-32912745-T-C c.4253T>C p.Ile1418Thr Missense 11/27 - 1
13-32912750-AG-A c.4258del p.Asp1420Ilefs*28 Frameshift 11/27 - 6
13-32912750-G-T c.4258G>T p.Asp1420Tyr Missense 11/27 - 31
13-32912750-G-A c.4258G>A p.Asp1420Asn Missense 11/27 - 1
13-32912763-C-G c.4271C>G p.Ser1424Cys Missense 11/27 - 1
13-32912776-T-TT c.4284dup p.Gln1429Serfs*9 Frameshift 11/27 - 11
13-32912777-C-CT c.4285_4286insT p.Gln1429Leufs*9 Frameshift 11/27 - 2
13-32912777-C-CG c.4285_4286insG p.Gln1429Argfs*9 Frameshift 11/27 - 2
13-32912777-C-T c.4285C>T p.Gln1429* Nonsense 11/27 - 1
13-32912780-A-G c.4288A>G p.Thr1430Ala Missense 11/27 - 3
13-32912783-G-A c.4291G>A p.Ala1431Thr Missense 11/27 - 1
13-32912789-G-A c.4297G>A p.Gly1433Arg Missense 11/27 - 1
13-32912793-A-T c.4301A>T p.Lys1434Ile Missense 11/27 - 5
13-32912799-T-C c.4307T>C p.Ile1436Thr Missense 11/27 - 1
13-32912800-T-C c.4308T>C p.Ile1436Ile Synonymous 11/27 - 5
13-32912802-G-A c.4310G>A p.Ser1437Asn Missense 11/27 - 1
13-32912806-C-T c.4314C>T p.Val1438Val Synonymous 11/27 - 2
13-32912806-TC-T c.4314del p.Ala1439Profs*9 Frameshift 11/27 - 2
13-32912808-C-A c.4316C>A p.Ala1439Asp Missense 11/27 - 1
13-32912817-C-A c.4325C>A p.Ser1442* Nonsense 11/27 - 1
13-32912826-A-C c.4334A>C p.Lys1445Thr Missense 11/27 - 1
13-32912831-GT-TA c.4339_4340delinsTA p.Val1447* Nonsense 11/27 - 1
13-32912839-C-G c.4347C>G p.Phe1449Leu Missense 11/27 - 1
13-32912842-T-TT c.4350dup p.Asp1451* Nonsense 11/27 - 1
13-32912843-TG-T c.4351del p.Asp1451Ilefs*12 Frameshift 11/27 - 1
13-32912846-CA-GG c.4354_4355delinsGG p.Gln1452Gly Missense 11/27 - 1
13-32912849-A-AT c.4357_4358insT p.Lys1453Ilefs*7 Frameshift 11/27 - 1
13-32912863-G-C c.4371G>C p.Leu1457Phe Missense 11/27 - 1
13-32912863-G-T c.4371G>T p.Leu1457Phe Missense 11/27 - 1
13-32912864-C-T c.4372C>T p.His1458Tyr Missense 11/27 - 1
13-32912865-A-G c.4373A>G p.His1458Arg Missense 11/27 - 1
13-32912867-A-T c.4375A>T p.Asn1459Tyr Missense 11/27 - 1
13-32912868-A-G c.4376A>G p.Asn1459Ser Missense 11/27 - 2
13-32912872-TTT-T c.4380_4381del p.Ser1461Leufs*4 Frameshift 11/27 - 1
13-32912890-TACATT-T c.4398_4402del p.Leu1466Phefs*2 Frameshift 11/27 - 2
13-32912901-ATAAGA-A c.4409_4413del p.Ile1470Lysfs*10 Frameshift 11/27 - 1
13-32912907-AAGAA-A c.4415_4418del p.Lys1472Thrfs*6 Frameshift 11/27 - 3
13-32912911-AC-A c.4419del p.Asn1473Lysfs*6 Frameshift 11/27 - 1
13-32912919-A-G c.4427A>G p.Asp1476Gly Missense 11/27 - 2
13-32912932-T-G c.4440T>G p.Tyr1480* Nonsense 11/27 - 3
13-32912941-CA-C c.4449del p.Asp1484Thrfs*2 Frameshift 11/27 - 3
13-32912944-C-T c.4452C>T p.Asp1484Asp Synonymous 11/27 - 1
13-32912948-AGTTA-A c.4456_4459del p.Val1486Asnfs*5 Frameshift 11/27 - 1
13-32912959-A-C c.4467A>C p.Lys1489Asn Missense 11/27 - 1
13-32912959-A-T c.4467A>T p.Lys1489Asn Missense 11/27 - 1
13-32912963-ACTGA-A c.4471_4474del p.Leu1491Lysfs*12 Frameshift 11/27 - 4
13-32912968-A-AT c.4476_4477insT p.Glu1493* Nonsense 11/27 - 1
13-32912969-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 - 6
13-32912972-AA-A c.4480del p.Ser1494Valfs*10 Frameshift 11/27 - 1
13-32912979-CC-C c.4487del p.Pro1496Glnfs*8 Frameshift 11/27 - 2
13-32912996-C-A c.4504C>A p.Gln1502Lys Missense 11/27 - 1
13-32913004-G-GT c.4512_4513insT p.Thr1505Tyrfs*9 Frameshift 11/27 - 1
13-32913005-A-G c.4513A>G p.Thr1505Ala Missense 11/27 - 1
13-32913017-C-T c.4525C>T p.Gln1509* Nonsense 11/27 - 1
13-32913025-AA-A c.4533del p.Glu1511Aspfs*32 Frameshift 11/27 - 2
13-32913026-C-T c.4534C>T p.Arg1512Cys Missense 11/27 - 2
13-32913027-CG-C c.4535del p.Arg1512Leufs*31 Frameshift 11/27 - 1
13-32913027-G-A c.4535G>A p.Arg1512His Missense 11/27 - 1
13-32913032-G-GC c.4540_4541insC p.Glu1514Alafs*15 Frameshift 11/27 - 1
13-32913036-A-AA c.4544dup p.Ile1516Aspfs*13 Frameshift 11/27 - 1
13-32913044-AG-A c.4552del p.Glu1518Asnfs*25 Frameshift 11/27 - 2
13-32913055-A-G c.4563A>G p.Leu1521Leu Synonymous 11/27 - 21
13-32913055-A-T c.4563A>T p.Leu1521Leu Synonymous 11/27 - 15
13-32913055-A-C c.4563A>C p.Leu1521Leu Synonymous 11/27 - 15
13-32913056-TT-GG c.4564_4565delinsGG p.Leu1522Gly Missense 11/27 - 1
13-32913062-TTTTC-T c.4570_4573del p.Phe1524Ilefs*18 Frameshift 11/27 - 1
13-32913062-TTT-GAG c.4570_4572delinsGAG p.Phe1524Glu Missense 11/27 - 2
13-32913062-T-G c.4570T>G p.Phe1524Val Missense 11/27 - 7
13-32913063-TT-GG c.4571_4572delinsGG p.Phe1524Trp Missense 11/27 - 2
13-32913065-C-T c.4573C>T p.His1525Tyr Missense 11/27 - 1
13-32913066-A-G c.4574A>G p.His1525Arg Missense 11/27 - 1
13-32913067-T-G c.4575T>G p.His1525Gln Missense 11/27 - 1
13-32913067-T-A c.4575T>A p.His1525Gln Missense 11/27 - 1
13-32913068-A-G c.4576A>G p.Thr1526Ala Missense 11/27 - 4
13-32913070-A-G c.4578A>G p.Thr1526Thr Synonymous 11/27 - 2
13-32913071-G-T c.4579G>T p.Ala1527Ser Missense 11/27 - 2
13-32913076-C-T c.4584C>T p.Ser1528Ser Synonymous 11/27 - 2
13-32913077-G-A c.4585G>A p.Gly1529Arg Missense 11/27 - 18
13-32913080-A-G c.4588A>G p.Lys1530Glu Missense 11/27 - 1
13-32913081-A-G c.4589A>G p.Lys1530Arg Missense 11/27 - 1
13-32913082-A-T c.4590A>T p.Lys1530Asn Missense 11/27 - 1
13-32913082-A-C c.4590A>C p.Lys1530Asn Missense 11/27 - 1
13-32913091-A-C c.4599A>C p.Lys1533Asn Missense 11/27 - 3
13-32913095-G-T c.4603G>T p.Ala1535Ser Missense 11/27 - 4
13-32913101-G-A c.4609G>A p.Glu1537Lys Missense 11/27 - 1
13-32913103-A-AG c.4611_4612insG p.Ser1538Valfs*10 Frameshift 11/27 - 2
13-32913106-T-C c.4614T>C p.Ser1538Ser Synonymous 11/27 - 1
13-32913112-C-T c.4620C>T p.Asp1540Asp Synonymous 11/27 - 1
13-32913116-G-T c.4624G>T p.Val1542Leu Missense 11/27 - 1
13-32913116-G-A c.4624G>A p.Val1542Met Missense 11/27 - 1
13-32913119-A-G c.4627A>G p.Lys1543Glu Missense 11/27 - 1
13-32913123-A-AA c.4631dup p.Asn1544Lysfs*4 Frameshift 11/27 - 2
13-32913123-AA-A c.4631del p.Asn1544Thrfs*24 Frameshift 11/27 - 4
13-32913125-C-T c.4633C>T p.Leu1545Phe Missense 11/27 - 2
13-32913125-CTT-TGG c.4633_4635delinsTGG p.Leu1545Trp Missense 11/27 - 1
13-32913125-CTT-GAG c.4633_4635delinsGAG p.Leu1545Glu Missense 11/27 - 1
13-32913128-TTT-GAG c.4636_4638delinsGAG p.Phe1546Glu Missense 11/27 - 1
13-32913129-TT-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 - 1
13-32913130-TT-T c.4638del p.Phe1546Leufs*22 Frameshift 11/27 - 2
13-32913135-A-C c.4643A>C p.Glu1548Ala Missense 11/27 - 1
13-32913140-G-T c.4648G>T p.Glu1550* Nonsense 11/27 - 3
13-32913148-T-C c.4656T>C p.Gly1552Gly Synonymous 11/27 - 1
13-32913148-T-A c.4656T>A p.Gly1552Gly Synonymous 11/27 - 1
13-32913148-T-G c.4656T>G p.Gly1552Gly Synonymous 11/27 - 1
13-32913173-C-A c.4681C>A p.His1561Asn Missense 11/27 - 5
13-32913178-A-G c.4686A>G p.Gln1562Gln Synonymous 11/27 - 2
13-32913183-C-CC c.4691dup p.Thr1566Aspfs*9 Frameshift 11/27 - 2
13-32913187-G-C c.4695G>C p.Lys1565Asn Missense 11/27 - 1
13-32913187-G-T c.4695G>T p.Lys1565Asn Missense 11/27 - 1
13-32913188-A-G c.4696A>G p.Thr1566Ala Missense 11/27 - 1
13-32913202-GA-G c.4710del p.Glu1571Argfs*8 Frameshift 11/27 - 2
13-32913206-G-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
13-32913208-CT-AAAGACC c.4716_4717delinsAAAGACC p.Cys1573Lysfs*8 Frameshift 11/27 - 1
13-32913217-C-T c.4725C>T p.Asp1575Asp Synonymous 11/27 - 1
13-32913232-T-TTG c.4740_4741insTG p.Glu1581Trpfs*37 Frameshift 11/27 - 2
13-32913234-A-ATG c.4742_4743insTG p.Glu1581Aspfs*37 Frameshift 11/27 - 1
13-32913249-C-T c.4757C>T p.Thr1586Ile Missense 11/27 - 1
13-32913261-A-G c.4769A>G p.Lys1590Arg Missense 11/27 - 1
13-32913263-TG-AC c.4771_4772delinsAC p.Cys1591Thr Missense 11/27 - 1
13-32913270-A-G c.4778A>G p.Glu1593Gly Missense 11/27 - 1
13-32913271-A-C c.4779A>C p.Glu1593Asp Missense 11/27 - 5
13-32913273-AT-A c.4781del p.Met1594Serfs*23 Frameshift 11/27 - 1
13-32913274-G-T c.4782G>T p.Met1594Ile Missense 11/27 - 1
13-32913277-G-A c.4785G>A p.Gln1595Gln Synonymous 11/27 - 1
13-32913282-C-A c.4790C>A p.Ser1597Tyr Missense 11/27 - 2
13-32913285-CTC-C c.4793_4794del p.Leu1598Glnfs*2 Frameshift 11/27 - 1
13-32913286-TCAAT-T c.4794_4797del p.Asn1599Metfs*17 Frameshift 11/27 - 2
13-32913290-TAAT-T c.4798_4800del p.Asn1600del InFrameDeletion 11/27 - 3
13-32913295-T-TT c.4803dup p.Lys1602* Nonsense 11/27 - 1
13-32913300-AA-A c.4808del p.Asn1603Thrfs*14 Frameshift 11/27 - 2
13-32913302-C-T c.4810C>T p.Leu1604Phe Missense 11/27 - 1
13-32913305-G-A c.4813G>A p.Val1605Ile Missense 11/27 - 1
13-32913313-TTGA-T c.4821_4823del p.Ile1607_Glu1608delinsMet MultiAAMissense 11/27 - 1
13-32913320-G-A c.4828G>A p.Val1610Met Missense 11/27 - 1
13-32913321-GTG-G c.4829_4830del p.Val1610Glyfs*4 Frameshift 11/27 - 4
13-32913336-T-G c.4844T>G p.Leu1615Arg Missense 11/27 - 1
13-32913337-TCT-T c.4845_4846del p.Leu1616Lysfs*2 Frameshift 11/27 - 1
13-32913341-AGT-TGA c.4849_4851delinsTGA p.Ser1617* Nonsense 11/27 - 1
13-32913342-G-A c.4850G>A p.Ser1617Asn Missense 11/27 - 1
13-32913346-T-A c.4854T>A p.Asp1618Glu Missense 11/27 - 1
13-32913346-T-G c.4854T>G p.Asp1618Glu Missense 11/27 - 1
13-32913358-GA-G c.4866del p.Arg1622Serfs*14 Frameshift 11/27 - 1
13-32913367-A-AT c.4875_4876insT p.Asn1626* Nonsense 11/27 - 1
13-32913368-AAA-A c.4876_4877del p.Asn1626Serfs*12 Frameshift 11/27 - 4
13-32913374-A-G c.4882A>G p.Lys1628Glu Missense 11/27 - 1
13-32913376-AAA-A c.4884_4885del p.Lys1628Asnfs*10 Frameshift 11/27 - 1
13-32913381-C-G c.4889C>G p.Ser1630* Nonsense 11/27 - 10
13-32913386-A-G c.4894A>G p.Ser1632Gly Missense 11/27 - 1
13-32913389-TATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGC-T c.4898_4956del p.Ile1633Asnfs*13 InFrameDeletion 11/27 - 2
13-32913391-TCTTT-T c.4899_4902del p.Phe1634* Frameshift 11/27 - 2
13-32913392-T-C c.4900T>C p.Phe1634Leu Missense 11/27 - 1
13-32913393-T-C c.4901T>C p.Phe1634Ser Missense 11/27 - 1
13-32913400-AA-A c.4908del p.Val1637Leufs*7 Frameshift 11/27 - 1
13-32913401-G-C c.4909G>C p.Val1637Leu Missense 11/27 - 1
13-32913405-A-G c.4913A>G p.Lys1638Arg Missense 11/27 - 1
13-32913406-A-AA c.4914dup p.Val1639Serfs*3 Frameshift 11/27 - 1
13-32913406-A-T c.4914A>T p.Lys1638Asn Missense 11/27 - 1
13-32913407-G-A c.4915G>A p.Val1639Ile Missense 11/27 - 2
13-32913420-T-C c.4928T>C p.Val1643Ala Missense 11/27 - 4
13-32913425-AAAA-A c.4933_4935del p.Lys1645del InFrameDeletion 11/27 - 1
13-32913427-AA-A c.4935del p.Glu1646Lysfs*24 Frameshift 11/27 - 1
13-32913428-G-C c.4936G>C p.Glu1646Gln Missense 11/27 - 1
13-32913428-AGAAA-A c.4936_4939del p.Glu1646Glnfs*23 Frameshift 11/27 - 13
13-32913432-ACA-A c.4940_4941del p.Thr1647Serfs*18 Frameshift 11/27 - 1
13-32913435-GC-G c.4943del p.Ala1648Glufs*22 Frameshift 11/27 - 1
13-32913448-A-G c.4956A>G p.Ala1652Ala Synonymous 11/27 - 3
13-32913454-T-A c.4962T>A p.Cys1654* Nonsense 11/27 - 2
13-32913455-TT-T c.4963del p.Tyr1655Thrfs*15 Frameshift 11/27 - 4
13-32913455-TA-CT c.4963_4964delinsCT p.Tyr1655Leu Missense 11/27 - 2
13-32913456-A-AA c.4964dup p.Tyr1655* Nonsense 11/27 - 2
13-32913456-TACACAAATCAGTCCCCTTA-T c.4964_4982del p.Tyr1655Phefs*9 Frameshift 11/27 - 1
13-32913457-C-G c.4965C>G p.Tyr1655* Nonsense 11/27 - 19
13-32913457-C-A c.4965C>A p.Tyr1655* Nonsense 11/27 - 14
13-32913457-C-T c.4965C>T p.Tyr1655Tyr Synonymous 11/27 - 6
13-32913457-AC-A c.4965del p.Tyr1655* Frameshift 11/27 - 3
13-32913460-A-AGT c.4968_4969insGT p.Asn1657Valfs*14 Frameshift 11/27 - 2
13-32913462-A-G c.4970A>G p.Asn1657Ser Missense 11/27 - 4
13-32913463-T-TGT c.4971_4972insGT p.Gln1658Valfs*13 Frameshift 11/27 - 1
13-32913471-CCT-C c.4979_4980del p.Pro1660Leufs*5 Frameshift 11/27 - 1
13-32913473-TT-T c.4981del p.Tyr1661Ilefs*9 Frameshift 11/27 - 2
13-32913475-T-G c.4983T>G p.Tyr1661* Nonsense 11/27 - 1
13-32913489-AA-A c.4997del p.Asn1666Ilefs*4 Frameshift 11/27 - 1
13-32913498-T-G c.5006T>G p.Leu1669* Nonsense 11/27 - 1
13-32913498-T-A c.5006T>A p.Leu1669* Nonsense 11/27 - 1
13-32913512-A-G c.5020A>G p.Ser1674Gly Missense 11/27 - 1
13-32913522-AGAAA-A c.5030_5033del p.Arg1677Lysfs*4 Frameshift 11/27 - 3
13-32913534-GTG-G c.5042_5043del p.Val1681Glufs*7 Frameshift 11/27 - 8
13-32913535-TG-T c.5043del p.Ser1682Valfs*24 Frameshift 11/27 - 1
13-32913540-A-AA c.5048dup p.Thr1684Aspfs*5 Frameshift 11/27 - 1
13-32913553-T-TT c.5061dup p.Glu1688* Nonsense 11/27 - 1
13-32913555-GAAG-G c.5063_5065del p.Glu1688del InFrameDeletion 11/27 - 1
13-32913556-A-AA c.5064dup p.Ala1689Serfs*6 Frameshift 11/27 - 4
13-32913560-A-C c.5068A>C p.Lys1690Gln Missense 11/27 - 1
13-32913562-A-C c.5070A>C p.Lys1690Asn Missense 11/27 - 7
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 - 1
13-32913565-A-T c.5073A>T p.Lys1691Asn Missense 11/27 - 1
13-32913565-A-AA c.5073dup p.Trp1692Metfs*3 Frameshift 11/27 - 18
13-32913567-G-A c.5075G>A p.Trp1692* Nonsense 11/27 - 3
13-32913571-TT-T c.5079del p.Arg1694Glufs*12 Frameshift 11/27 - 1
13-32913572-A-T c.5080A>T p.Arg1694* Nonsense 11/27 - 1
13-32913573-AGAGA-A c.5081_5084del p.Arg1694Lysfs*11 Frameshift 11/27 - 1
13-32913573-G-T c.5081G>T p.Arg1694Ile Missense 11/27 - 1
13-32913574-A-G c.5082A>G p.Arg1694Arg Synonymous 11/27 - 1
13-32913579-G-T c.5087G>T p.Gly1696Val Missense 11/27 - 1
13-32913583-TAT-T c.5091_5092del p.Phe1698* Frameshift 11/27 - 1
13-32913584-T-C c.5092T>C p.Phe1698Leu Missense 11/27 - 1
13-32913587-G-A c.5095G>A p.Asp1699Asn Missense 11/27 - 1
13-32913588-A-G c.5096A>G p.Asp1699Gly Missense 11/27 - 3
13-32913593-C-T c.5101C>T p.Gln1701* Nonsense 11/27 - 4
13-32913598-CA-C c.5106del p.Glu1703Lysfs*3 Frameshift 11/27 - 1
13-32913607-A-AT c.5115_5116insT p.Asn1706* Nonsense 11/27 - 1
13-32913608-AAATA-A c.5116_5119del p.Asn1706Leufs*5 Frameshift 11/27 - 8
13-32913609-A-G c.5117A>G p.Asn1706Ser Missense 11/27 - 1
13-32913615-C-G c.5123C>G p.Ala1708Gly Missense 11/27 - 1
13-32913615-C-A c.5123C>A p.Ala1708Glu Missense 11/27 - 9
13-32913618-A-C c.5126A>C p.Asp1709Ala Missense 11/27 - 1
13-32913620-T-G c.5128T>G p.Tyr1710Asp Missense 11/27 - 1
13-32913622-ATGTA-A c.5130_5133del p.Tyr1710* Frameshift 11/27 - 3
13-32913622-T-G c.5130T>G p.Tyr1710* Nonsense 11/27 - 2
13-32913622-T-A c.5130T>A p.Tyr1710* Nonsense 11/27 - 2
13-32913633-TATTT-T c.5141_5144del p.Tyr1714Cysfs*10 Frameshift 11/27 - 3
13-32913638-GTATG-G c.5146_5149del p.Tyr1716Lysfs*8 Frameshift 11/27 - 6
13-32913640-T-G c.5148T>G p.Tyr1716* Nonsense 11/27 - 1
13-32913641-G-T c.5149G>T p.Glu1717* Nonsense 11/27 - 1
13-32913649-ATTCAA-A c.5157_5161del p.Asn1719Lysfs*6 Frameshift 11/27 - 1
13-32913650-T-TA c.5158_5159insA p.Ser1720Tyrfs*7 Frameshift 11/27 - 2
13-32913650-T-TT c.5158dup p.Ser1720Phefs*7 Frameshift 11/27 - 1
13-32913651-C-A c.5159C>A p.Ser1720* Nonsense 11/27 - 1
13-32913655-C-CT c.5163_5164insT p.Ser1722* Nonsense 11/27 - 3
13-32913656-CA-C c.5164del p.Ser1722Valfs*3 Frameshift 11/27 - 1
13-32913656-AG-TA c.5164_5165delinsTA p.Ser1722Tyr Missense 11/27 - 1
13-32913656-CAG-C c.5164_5165del p.Ser1722Tyrfs*4 Frameshift 11/27 - 10
13-32913659-A-C c.5167A>C p.Thr1723Pro Missense 11/27 - 3
13-32913665-G-GA c.5173_5174insA p.Ala1725Aspfs*2 Frameshift 11/27 - 1
13-32913680-A-T c.5188A>T p.Asn1730Tyr Missense 11/27 - 1
13-32913681-A-AA c.5189dup p.Asn1730Lysfs*13 Frameshift 11/27 - 1
13-32913682-T-A c.5190T>A p.Asn1730Lys Missense 11/27 - 2
13-32913683-C-A c.5191C>A p.His1731Asn Missense 11/27 - 1
13-32913683-C-T c.5191C>T p.His1731Tyr Missense 11/27 - 2
13-32913689-CTC-C c.5197_5198del p.Ser1733Argfs*9 Frameshift 11/27 - 1
13-32913690-C-T c.5198C>T p.Ser1733Phe Missense 11/27 - 4
13-32913691-C-T c.5199C>T p.Ser1733Ser Synonymous 11/27 - 7
13-32913692-G-A c.5200G>A p.Glu1734Lys Missense 11/27 - 1
13-32913694-A-C c.5202A>C p.Glu1734Asp Missense 11/27 - 1
13-32913697-AACAA-A c.5205_5208del p.Gln1736Ilefs*4 Frameshift 11/27 - 1
13-32913705-ACTTA-A c.5213_5216del p.Thr1738Ilefs*2 Frameshift 11/27 - 12
13-32913708-A-AA c.5216dup p.Tyr1739* Nonsense 11/27 - 1
13-32913708-A-AAAA c.5216_5217insAAA p.Tyr1739delins* Nonsense 11/27 - 1
13-32913709-ATTTA-A c.5217_5220del p.Tyr1739* Frameshift 11/27 - 1
13-32913709-T-A c.5217T>A p.Tyr1739* Nonsense 11/27 - 1
13-32913709-ATTTAAGT-A c.5217_5223del p.Tyr1739* Frameshift 11/27 - 5
13-32913709-ATTTAAGTA-A c.5217_5224del p.Tyr1739* Frameshift 11/27 - 1
13-32913709-T-TA c.5217_5218insA p.Leu1740Ilefs*3 Frameshift 11/27 - 1
13-32913709-ATTTAA-A c.5217_5221del p.Tyr1739* Frameshift 11/27 - 1
13-32913710-TTTAAGT-T c.5218_5223del p.Leu1740_Ser1741del InFrameDeletion 11/27 - 1
13-32913710-TTTAAGTA-T c.5218_5224del p.Leu1740Thrfs*35 Frameshift 11/27 - 1
13-32913710-TTTAAGTAACAGTAGCAT-T c.5218_5234del p.Leu1740Valfs*2 Frameshift 11/27 - 1
13-32913711-T-G c.5219T>G p.Leu1740* Nonsense 11/27 - 2
13-32913711-T-TT c.5219dup p.Leu1740Phefs*3 Frameshift 11/27 - 1
13-32913711-T-TTA c.5219_5220insTA p.Leu1740Phefs*38 Frameshift 11/27 - 1
13-32913711-TT-T c.5219del p.Leu1740* Frameshift 11/27 - 2
13-32913712-A-AT c.5220_5221insT p.Ser1741* Nonsense 11/27 - 1
13-32913714-AGTA-A c.5222_5224del p.Ser1741del InFrameDeletion 11/27 - 1
13-32913714-AGTAA-A c.5222_5225del p.Ser1741Thrfs*35 Frameshift 11/27 - 2
13-32913717-A-G c.5225A>G p.Asn1742Ser Missense 11/27 - 1
13-32913717-AACAGTA-A c.5225_5230del p.Asn1742_Ser1743del InFrameDeletion 11/27 - 1
13-32913721-GTAG-G c.5229_5231del p.Ser1744del InFrameDeletion 11/27 - 1
13-32913723-G-T c.5231G>T p.Ser1744Ile Missense 11/27 - 2
13-32913725-CA-C c.5233del p.Met1745Cysfs*32 Frameshift 11/27 - 1
13-32913727-G-GGC c.5235_5236insGC p.Ser1746Alafs*32 Frameshift 11/27 - 1
13-32913730-T-TT c.5238dup p.Asn1747* Nonsense 11/27 - 6
13-32913730-CT-C c.5238del p.Asn1747Thrfs*30 Frameshift 11/27 - 1
13-32913731-A-AT c.5239_5240insT p.Asn1747Ilefs*8 Frameshift 11/27 - 10
13-32913733-C-CTA c.5241_5242insTA p.Ser1748* Nonsense 11/27 - 1
13-32913736-GC-G c.5244del p.Tyr1749Ilefs*28 Frameshift 11/27 - 1
13-32913745-C-A c.5253C>A p.Tyr1751* Nonsense 11/27 - 2
13-32913752-G-T c.5260G>T p.Asp1754Tyr Missense 11/27 - 1
13-32913753-A-G c.5261A>G p.Asp1754Gly Missense 11/27 - 1
13-32913755-G-GC c.5263_5264insC p.Glu1755Alafs*4 Frameshift 11/27 - 5
13-32913755-G-T c.5263G>T p.Glu1755* Nonsense 11/27 - 1
13-32913758-G-GG c.5266dup p.Val1756Glyfs*3 Frameshift 11/27 - 1
13-32913758-G-GC c.5266_5267insC p.Val1756Alafs*3 Frameshift 11/27 - 1
13-32913764-A-G c.5272A>G p.Asn1758Asp Missense 11/27 - 1
13-32913764-TAAT-T c.5272_5274del p.Asn1758del InFrameDeletion 11/27 - 1
13-32913770-T-G c.5278T>G p.Ser1760Ala Missense 11/27 - 3
13-32913771-C-A c.5279C>A p.Ser1760* Nonsense 11/27 - 1
13-32913771-C-G c.5279C>G p.Ser1760* Nonsense 11/27 - 2
13-32913773-G-T c.5281G>T p.Gly1761* Nonsense 11/27 - 1
13-32913778-T-A c.5286T>A p.Tyr1762* Nonsense 11/27 - 3
13-32913778-T-G c.5286T>G p.Tyr1762* Nonsense 11/27 - 3
13-32913782-CTC-C c.5290_5291del p.Ser1764Lysfs*3 Frameshift 11/27 - 2
13-32913783-C-G c.5291C>G p.Ser1764* Nonsense 11/27 - 3
13-32913787-A-T c.5295A>T p.Lys1765Asn Missense 11/27 - 1
13-32913787-A-C c.5295A>C p.Lys1765Asn Missense 11/27 - 1
13-32913791-TAAACTTGAT-T c.5299_5307del p.Lys1767_Asp1769del InFrameDeletion 11/27 - 1
13-32913793-A-AA c.5301dup p.Leu1768Thrfs*2 Frameshift 11/27 - 1
13-32913794-ACTTGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTT-A c.5302_5360del p.Leu1768Phefs*19 SpliceDonorDeletion 11/27 - 1
13-32913795-CTT-C c.5303_5304del p.Leu1768Argfs*5 Frameshift 11/27 - 5
13-32913797-TGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTC-T c.5305_5363del p.Asp1769Glnfs*18 SpliceDonorDeletion 11/27 - 1
13-32913803-TGGTATTGAGCCAGTATTGAAGAA-T c.5311_5333del p.Gly1771Cysfs*2 Frameshift 11/27 - 1
13-32913804-G-T c.5312G>T p.Gly1771Val Missense 11/27 - 1
13-32913804-G-A c.5312G>A p.Gly1771Asp Missense 11/27 - 9
13-32913811-G-C c.5319G>C p.Glu1773Asp Missense 11/27 - 1
13-32913816-GTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATATCCAATGTA-G c.5324_5382del p.Val1775Glufs*12 Frameshift 11/27 - 1
13-32913816-T-G c.5324T>G p.Val1775Gly Missense 11/27 - 1
13-32913820-G-GG c.5328dup p.Lys1777Glufs*4 Frameshift 11/27 - 1
13-32913823-AGAA-A c.5331_5333del p.Lys1777del InFrameDeletion 11/27 - 1
13-32913825-A-G c.5333A>G p.Asn1778Ser Missense 11/27 - 1
13-32913832-A-AT c.5340_5341insT p.Asp1781* Nonsense 11/27 - 1
13-32913833-G-A c.5341G>A p.Asp1781Asn Missense 11/27 - 1
13-32913837-A-C c.5345A>C p.Gln1782Pro Missense 11/27 - 1
13-32913842-AAA-A c.5350_5351del p.Asn1784Hisfs*2 Frameshift 11/27 - 4
13-32913843-A-AA c.5351dup p.Asn1784Lysfs*3 Frameshift 11/27 - 17
13-32913843-AA-A c.5351del p.Asn1784Thrfs*7 Frameshift 11/27 - 5
13-32913844-C-CTA c.5352_5353insTA p.Thr1785* Nonsense 11/27 - 1
13-32913845-CAC-C c.5353_5354del p.Thr1785* Frameshift 11/27 - 2
13-32913856-C-CC c.5364dup p.Lys1789Glnfs*18 Frameshift 11/27 - 1
13-32913866-AT-A c.5374del p.Ser1792Profs*3 Frameshift 11/27 - 1
13-32913867-C-T c.5375C>T p.Ser1792Phe Missense 11/27 - 1
13-32913869-A-T c.5377A>T p.Asn1793Tyr Missense 11/27 - 1
13-32913872-TG-T c.5380del p.Val1794* Frameshift 11/27 - 1
13-32913877-A-AA c.5385dup p.Asp1796Argfs*11 Frameshift 11/27 - 2
13-32913878-G-T c.5386G>T p.Asp1796Tyr Missense 11/27 - 1
13-32913882-C-G c.5390C>G p.Ala1797Gly Missense 11/27 - 1
13-32913889-A-G c.5397A>G p.Ala1799Ala Synonymous 11/27 - 1
13-32913902-TGT-T c.5410_5411del p.Val1804Lysfs*2 Frameshift 11/27 - 5
13-32913903-T-C c.5411T>C p.Val1804Ala Missense 11/27 - 1
13-32913906-A-G c.5414A>G p.Asn1805Ser Missense 11/27 - 1
13-32913910-A-G c.5418A>G p.Glu1806Glu Synonymous 11/27 - 1
13-32913915-T-C c.5423T>C p.Ile1808Thr Missense 11/27 - 1
13-32913920-G-A c.5428G>A p.Val1810Ile Missense 11/27 - 1
13-32913925-AGGAA-A c.5433_5436del p.Glu1811Aspfs*3 Frameshift 11/27 - 2
13-32913926-G-T c.5434G>T p.Glu1812* Nonsense 11/27 - 1
13-32913934-TGACT-T c.5442_5445del p.Thr1815Alafs*24 Frameshift 11/27 - 1
13-32913938-A-AA c.5446dup p.Ser1816Lysfs*8 Frameshift 11/27 - 1
13-32913938-AG-CT c.5446_5447inv p.Ser1816Leu Missense 11/27 - 1
13-32913945-C-G c.5453C>G p.Ser1818* Nonsense 11/27 - 1
13-32913947-C-T c.5455C>T p.Pro1819Ser Missense 11/27 - 4
13-32913951-G-GA c.5459_5460insA p.Cys1820* Nonsense 11/27 - 1
13-32913957-AA-A c.5465del p.Asn1822Ilefs*18 Frameshift 11/27 - 1
13-32913958-T-TT c.5466dup p.Lys1823* Nonsense 11/27 - 1
13-32913962-AAATGCAGC-A c.5470_5477del p.Asn1824Hisfs*2 Frameshift 11/27 - 3
13-32913971-A-G c.5479A>G p.Ile1827Val Missense 11/27 - 1
13-32913972-T-G c.5480T>G p.Ile1827Ser Missense 11/27 - 1
13-32913974-TAAATT-T c.5482_5486del p.Lys1828Valfs*4 Frameshift 11/27 - 1
13-32913979-G-C c.5487G>C p.Leu1829Phe Missense 11/27 - 1
13-32913979-G-T c.5487G>T p.Leu1829Phe Missense 11/27 - 1
13-32913982-C-G c.5490C>G p.Ser1830Ser Synonymous 11/27 - 1
13-32913982-C-T c.5490C>T p.Ser1830Ser Synonymous 11/27 - 1
13-32913982-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 - 1
13-32913988-CTAATAGTAAT-C c.5496_5505del p.Asn1833Ilefs*4 Frameshift 11/27 - 3
13-32913990-A-G c.5498A>G p.Asn1833Ser Missense 11/27 - 1
13-32914001-T-C c.5509T>C p.Phe1837Leu Missense 11/27 - 1
13-32914010-G-C c.5518G>C p.Gly1840Arg Missense 11/27 - 1
13-32914021-A-C c.5529A>C p.Ala1843Ala Synonymous 11/27 - 1
13-32914034-CA-C c.5542del p.Ser1848Valfs*15 Frameshift 11/27 - 3
13-32914037-GG-AC c.5545_5546delinsAC p.Gly1849Thr Missense 11/27 - 1
13-32914052-TGT-T c.5560_5561del p.Val1854Phefs*3 Frameshift 11/27 - 2
13-32914061-G-T c.5569G>T p.Glu1857* Nonsense 11/27 - 2
13-32914061-TG-T c.5569del p.Glu1857Lysfs*6 Frameshift 11/27 - 1
13-32914064-A-G c.5572A>G p.Thr1858Ala Missense 11/27 - 1
13-32914068-TT-AG c.5576_5577delinsAG p.Ile1859Lys Missense 11/27 - 1
13-32914068-ATTAA-A c.5576_5579del p.Ile1859Lysfs*3 Frameshift 11/27 - 39
13-32914069-TT-T c.5577del p.Val1862* Frameshift 11/27 - 1
13-32914075-AA-A c.5583del p.Val1862* Frameshift 11/27 - 1
13-32914077-T-G c.5585T>G p.Val1862Gly Missense 11/27 - 1
13-32914082-G-A c.5590G>A p.Asp1864Asn Missense 11/27 - 1
13-32914095-GACAG-G c.5603_5606del p.Asp1868Valfs*5 Frameshift 11/27 - 2
13-32914100-T-C c.5608T>C p.Phe1870Leu Missense 11/27 - 1
13-32914102-C-G c.5610C>G p.Phe1870Leu Missense 11/27 - 1
13-32914102-C-A c.5610C>A p.Phe1870Leu Missense 11/27 - 1
13-32914101-T-A c.5609T>A p.Phe1870Tyr Missense 11/27 - 1
13-32914101-TC-AG c.5609_5610delinsAG p.Phe1870* Missense 11/27 - 4
13-32914102-C-CT c.5610_5611insT p.Ser1871* Nonsense 11/27 - 1
13-32914104-G-A c.5612G>A p.Ser1871Asn Missense 11/27 - 1
13-32914106-A-T c.5614A>T p.Lys1872* Nonsense 11/27 - 3
13-32914108-AAGTAA-A c.5616_5620del p.Lys1872Asnfs*2 Frameshift 11/27 - 9
13-32914113-ATTAA-A c.5621_5624del p.Ile1874Argfs*34 Frameshift 11/27 - 4
13-32914114-TTAAGGAA-T c.5622_5628del p.Lys1875Thrfs*32 Frameshift 11/27 - 1
13-32914123-AC-A c.5631del p.Asn1877Lysfs*32 Frameshift 11/27 - 2
13-32914125-A-AA c.5633dup p.Asn1878Lysfs*4 Frameshift 11/27 - 1
13-32914126-C-G c.5634C>G p.Asn1878Lys Missense 11/27 - 3
13-32914127-G-A c.5635G>A p.Glu1879Lys Missense 11/27 - 3
13-32914127-G-T c.5635G>T p.Glu1879* Nonsense 11/27 - 1
13-32914129-G-T c.5637G>T p.Glu1879Asp Missense 11/27 - 1
13-32914132-T-G c.5640T>G p.Asn1880Lys Missense 11/27 - 3
13-32914133-TAAAT-T c.5641_5644del p.Lys1881Glnfs*27 Frameshift 11/27 - 3
13-32914136-ATCAA-A c.5644_5647del p.Ser1882Lysfs*26 Frameshift 11/27 - 1
13-32914137-C-G c.5645C>G p.Ser1882* Nonsense 11/27 - 15
13-32914137-C-A c.5645C>A p.Ser1882* Nonsense 11/27 - 37
13-32914148-C-T c.5656C>T p.Gln1886* Nonsense 11/27 - 1
13-32914159-TT-T c.5667del p.Met1890Trpfs*19 Frameshift 11/27 - 1
13-32914161-ATGGCA-A c.5669_5673del p.Met1890Argfs*8 Frameshift 11/27 - 1
13-32914173-A-AA c.5681dup p.Tyr1894* Nonsense 11/27 - 4
13-32914174-AC-A c.5682del p.Tyr1894* Frameshift 11/27 - 1
13-32914174-C-A c.5682C>A p.Tyr1894* Nonsense 11/27 - 17
13-32914174-C-G c.5682C>G p.Tyr1894* Nonsense 11/27 - 34
13-32914174-C-CA c.5682_5683insA p.Glu1895Argfs*5 Frameshift 11/27 - 2
13-32914178-GGCA-G c.5686_5688del p.Ala1896del InFrameDeletion 11/27 - 2
13-32914182-T-A c.5690T>A p.Leu1897* Nonsense 11/27 - 1
13-32914184-GA-TG c.5692_5693delinsTG p.Asp1898Cys Missense 11/27 - 1
13-32914191-C-G c.5699C>G p.Ser1900* Nonsense 11/27 - 1
13-32914193-G-A c.5701G>A p.Glu1901Lys Missense 11/27 - 1
13-32914194-A-T c.5702A>T p.Glu1901Val Missense 11/27 - 1
13-32914196-G-A c.5704G>A p.Asp1902Asn Missense 11/27 - 4
13-32914197-A-C c.5705A>C p.Asp1902Ala Missense 11/27 - 1
13-32914200-T-C c.5708T>C p.Ile1903Thr Missense 11/27 - 1
13-32914202-C-G c.5710C>G p.Leu1904Val Missense 11/27 - 6
13-32914205-C-T c.5713C>T p.His1905Tyr Missense 11/27 - 1
13-32914206-A-G c.5714A>G p.His1905Arg Missense 11/27 - 1
13-32914206-A-T c.5714A>T p.His1905Leu Missense 11/27 - 1
13-32914207-T-TT c.5715dup p.Asn1906* Nonsense 11/27 - 2
13-32914212-TCTCT-T c.5720_5723del p.Ser1907* Frameshift 11/27 - 2
13-32914214-TCT-T c.5722_5723del p.Leu1908Argfs*2 Frameshift 11/27 - 31
13-32914215-T-G c.5723T>G p.Leu1908Arg Missense 11/27 - 1
13-32914219-T-TG c.5727_5728insG p.Asn1910Glufs*2 Frameshift 11/27 - 2
13-32914220-TAAT-T c.5728_5730del p.Asn1910del InFrameDeletion 11/27 - 1
13-32914221-A-T c.5729A>T p.Asn1910Ile Missense 11/27 - 2
13-32914225-ATGA-A c.5733_5735del p.Asp1911del InFrameDeletion 11/27 - 3
13-32914226-G-T c.5734G>T p.Glu1912* Nonsense 11/27 - 1
13-32914228-AA-A c.5736del p.Glu1912Aspfs*51 Frameshift 11/27 - 1
13-32914229-T-C c.5737T>C p.Cys1913Arg Missense 11/27 - 1
13-32914236-C-T c.5744C>T p.Thr1915Met Missense 11/27 - 38
13-32914236-CG-TC c.5744_5745delinsTC p.Thr1915Ile Missense 11/27 - 1
13-32914241-TTCACAT-T c.5749_5754del p.Ser1917_His1918del InFrameDeletion 11/27 - 1
13-32914241-TTCA-T c.5749_5751del p.Ser1917del InFrameDeletion 11/27 - 2
13-32914244-ACAT-A c.5752_5754del p.His1918del InFrameDeletion 11/27 - 1
13-32914244-C-T c.5752C>T p.His1918Tyr Missense 11/27 - 3
13-32914245-CA-C c.5753del p.His1918Leufs*45 Frameshift 11/27 - 3
13-32914246-T-TT c.5754dup p.Lys1919* Nonsense 11/27 - 1
13-32914246-ATA-A c.5754_5755del p.His1918Glnfs*5 Frameshift 11/27 - 1
13-32914249-G-A c.5757G>A p.Lys1919Lys Synonymous 11/27 - 1
13-32914255-T-TT c.5763dup p.Ala1922Cysfs*2 Frameshift 11/27 - 2
13-32914260-A-C c.5768A>C p.Asp1923Ala Missense 11/27 - 2
13-32914260-A-T c.5768A>T p.Asp1923Val Missense 11/27 - 1
13-32914263-ATTCA-A c.5771_5774del p.Ile1924Argfs*38 Frameshift 11/27 - 7
13-32914265-TC-T c.5773del p.Gln1925Argfs*38 Frameshift 11/27 - 1
13-32914270-GT-G c.5778del p.Ser1926Argfs*37 Frameshift 11/27 - 1
13-32914274-G-T c.5782G>T p.Glu1928* Nonsense 11/27 - 1
13-32914277-A-G c.5785A>G p.Ile1929Val Missense 11/27 - 12
13-32914281-TT-T c.5789del p.Leu1930Tyrfs*33 Frameshift 11/27 - 1
13-32914283-C-T c.5791C>T p.Gln1931* Nonsense 11/27 - 2
13-32914286-CAT-TAA c.5794_5796delinsTAA p.His1932* Nonsense 11/27 - 1
13-32914288-ATA-A c.5796_5797del p.His1932Glnfs*12 Frameshift 11/27 - 4
13-32914291-ACCAA-A c.5799_5802del p.Asn1933Lysfs*29 Frameshift 11/27 - 4
13-32914292-C-T c.5800C>T p.Gln1934* Nonsense 11/27 - 1
13-32914296-AA-A c.5804del p.Asn1935Ilefs*28 Frameshift 11/27 - 1
13-32914298-TATG-T c.5806_5808del p.Met1936del InFrameDeletion 11/27 - 2
13-32914302-TCT-T c.5810_5811del p.Ser1937Trpfs*7 Frameshift 11/27 - 1
13-32914315-AA-A c.5823del p.Val1942Phefs*21 Frameshift 11/27 - 1
13-32914328-T-C c.5836T>C p.Ser1946Pro Missense 11/27 - 2
13-32914342-T-TT c.5850dup p.Ser1951* Nonsense 11/27 - 1
13-32914343-TAGTT-T c.5851_5854del p.Ser1951Trpfs*11 Frameshift 11/27 - 6
13-32914343-AGT-TGG c.5851_5853delinsTGG p.Ser1951Trp Missense 11/27 - 1
13-32914347-T-A c.5855T>A p.Leu1952* Nonsense 11/27 - 3
13-32914349-G-T c.5857G>T p.Glu1953* Nonsense 11/27 - 17
13-32914356-C-A c.5864C>A p.Ser1955* Nonsense 11/27 - 4
13-32914356-C-G c.5864C>G p.Ser1955* Nonsense 11/27 - 3
13-32914359-A-T c.5867A>T p.Asp1956Val Missense 11/27 - 1
13-32914361-TATAT-T c.5869_5872del p.Ile1957Valfs*5 Frameshift 11/27 - 1
13-32914374-G-A c.5882G>A p.Ser1961Asn Missense 11/27 - 1
13-32914377-T-C c.5885T>C p.Ile1962Thr Missense 11/27 - 2
13-32914388-C-T c.5896C>T p.His1966Tyr Missense 11/27 - 1
13-32914389-A-G c.5897A>G p.His1966Arg Missense 11/27 - 1
13-32914393-G-GG c.5901dup p.Ser1968Valfs*12 Frameshift 11/27 - 1
13-32914394-TC-GG c.5902_5903delinsGG p.Ser1968Gly Missense 11/27 - 1
13-32914396-CAGTC-C c.5904_5907del p.Val1969Hisfs*34 Frameshift 11/27 - 1
13-32914401-C-A c.5909C>A p.Ser1970* Nonsense 11/27 - 11
13-32914402-A-AA c.5910dup p.Ser1971Ilefs*9 Frameshift 11/27 - 1
13-32914427-A-C c.5935A>C p.Ser1979Arg Missense 11/27 - 1
13-32914429-C-A c.5937C>A p.Ser1979Arg Missense 11/27 - 1
13-32914429-C-G c.5937C>G p.Ser1979Arg Missense 11/27 - 1
13-32914431-C-T c.5939C>T p.Thr1980Ile Missense 11/27 - 2
13-32914434-GCAAGTGGAAAATCTGTCCAG-G c.5942_5961del p.Ala1981Glyfs*15 Frameshift 11/27 - 1
13-32914435-A-AT c.5943_5944insT p.Ser1982* Nonsense 11/27 - 3
13-32914436-AAGTGGAAAA-A c.5944_5952del p.Gly1983_Ser1985del InFrameDeletion 11/27 - 1
13-32914438-GTGGAAAATCTGTCCAGGTATCAGATGCTTCATTACAAAACGCAAG-G c.5946_5990del p.Ser1982_Ala1996del InFrameDeletion 11/27 - 2
13-32914438-GTGGA-G c.5946_5949del p.Ser1982Argfs*21 Frameshift 11/27 - 2
13-32914438-GT-G c.5946del p.Ser1982Argfs*22 Frameshift 11/27 - 154
13-32914443-AAA-A c.5951_5952del p.Lys1984Ilefs*18 Frameshift 11/27 - 1
13-32914444-A-T c.5952A>T p.Lys1984Asn Missense 11/27 - 1
13-32914444-A-C c.5952A>C p.Lys1984Asn Missense 11/27 - 1
13-32914445-ATCT-A c.5953_5955del p.Ser1985del InFrameDeletion 11/27 - 2
13-32914448-TGTC-T c.5956_5958del p.Val1986del InFrameDeletion 11/27 - 1
13-32914451-C-T c.5959C>T p.Gln1987* Nonsense 11/27 - 3
13-32914456-TAT-T c.5964_5965del p.Ser1989Argfs*13 Frameshift 11/27 - 1
13-32914456-TATCAGATGCTTCATTACAAAACGCAAGACAAGTGT-T c.5964_5998del p.Ser1989Phefs*2 Frameshift 11/27 - 1
13-32914458-C-A c.5966C>A p.Ser1989* Nonsense 11/27 - 1
13-32914461-A-C c.5969A>C p.Asp1990Ala Missense 11/27 - 3
13-32914463-G-A c.5971G>A p.Ala1991Thr Missense 11/27 - 2
13-32914464-C-T c.5972C>T p.Ala1991Val Missense 11/27 - 3
13-32914471-A-AA c.5979dup p.Gln1994Thrfs*9 Frameshift 11/27 - 1
13-32914472-C-T c.5980C>T p.Gln1994* Nonsense 11/27 - 3
13-32914476-A-AA c.5984dup p.Asn1995Lysfs*8 Frameshift 11/27 - 1
13-32914478-G-A c.5986G>A p.Ala1996Thr Missense 11/27 - 3
13-32914478-CGCA-C c.5986_5988del p.Ala1996del InFrameDeletion 11/27 - 1
13-32914479-C-G c.5987C>G p.Ala1996Gly Missense 11/27 - 2
13-32914479-C-T c.5987C>T p.Ala1996Val Missense 11/27 - 1
13-32914484-ACAAGTGTTTTCTGA-A c.5992_6005del p.Gln1998Asnfs*4 Frameshift 11/27 - 1
13-32914485-CAA-C c.5993_5994del p.Gln1998Argfs*4 Frameshift 11/27 - 1
13-32914493-TT-T c.6001del p.Ser2001Leufs*3 Frameshift 11/27 - 1
13-32914494-C-G c.6002C>G p.Ser2001Cys Missense 11/27 - 1
13-32914506-A-T c.6014A>T p.Asp2005Val Missense 11/27 - 1
13-32914508-A-C c.6016A>C p.Ser2006Arg Missense 11/27 - 1
13-32914510-T-G c.6018T>G p.Ser2006Arg Missense 11/27 - 1
13-32914510-T-A c.6018T>A p.Ser2006Arg Missense 11/27 - 1
13-32914516-G-GG c.6024dup p.Gln2009Alafs*9 Frameshift 11/27 - 10
13-32914517-C-T c.6025C>T p.Gln2009* Nonsense 11/27 - 2
13-32914517-GCAA-G c.6025_6027del p.Gln2009del InFrameDeletion 11/27 - 2
13-32914521-T-G c.6029T>G p.Val2010Gly Missense 11/27 - 4
13-32914525-TTT-T c.6033_6034del p.Ser2012Glnfs*5 Frameshift 11/27 - 3
13-32914525-T-TGT c.6033_6034insGT p.Ser2012Valfs*29 Frameshift 11/27 - 2
13-32914526-TT-T c.6034del p.Ser2012Profs*28 Frameshift 11/27 - 1
13-32914526-T-TT c.6034dup p.Ser2012Phefs*6 Frameshift 11/27 - 1
13-32914529-A-T c.6037A>T p.Lys2013* Nonsense 11/27 - 13
13-32914529-A-G c.6037A>G p.Lys2013Glu Missense 11/27 - 1
13-32914531-AA-A c.6039del p.Val2014Tyrfs*26 Frameshift 11/27 - 3
13-32914542-A-C c.6050A>C p.Lys2017Thr Missense 11/27 - 1
13-32914542-A-T c.6050A>T p.Lys2017Ile Missense 11/27 - 1
13-32914550-G-A c.6058G>A p.Glu2020Lys Missense 11/27 - 1
13-32914551-GAACA-G c.6059_6062del p.Glu2020Valfs*19 Frameshift 11/27 - 2
13-32914554-A-G c.6062A>G p.His2021Arg Missense 11/27 - 1
13-32914557-C-G c.6065C>G p.Ser2022* Nonsense 11/27 - 1
13-32914560-GACCAG-G c.6068_6072del p.Asp2023Alafs*24 Frameshift 11/27 - 1
13-32914562-C-A c.6070C>A p.Gln2024Lys Missense 11/27 - 1
13-32914570-CAA-C c.6078_6079del p.Glu2028Argfs*20 Frameshift 11/27 - 2
13-32914571-A-AA c.6079dup p.Arg2027Lysfs*22 Frameshift 11/27 - 1
13-32914572-G-A c.6080G>A p.Arg2027Lys Missense 11/27 - 1
13-32914574-AGA-A c.6082_6083del p.Glu2028Argfs*20 Frameshift 11/27 - 1
13-32914574-AGAAGA-A c.6082_6086del p.Glu2028Lysfs*19 Frameshift 11/27 - 2
13-32914577-AGAAAA-A c.6085_6089del p.Glu2029Tyrfs*18 Frameshift 11/27 - 1
13-32914588-T-TT c.6096dup p.Ile2033Tyrfs*16 Frameshift 11/27 - 1
13-32914590-T-C c.6098T>C p.Ile2033Thr Missense 11/27 - 1
13-32914592-C-A c.6100C>A p.Arg2034Ser Missense 11/27 - 1
13-32914592-C-T c.6100C>T p.Arg2034Cys Missense 11/27 - 21
13-32914593-G-A c.6101G>A p.Arg2034His Missense 11/27 - 4
13-32914608-T-A c.6116T>A p.Leu2039* Nonsense 11/27 - 1
13-32914608-T-G c.6116T>G p.Leu2039* Nonsense 11/27 - 1
13-32914616-C-T c.6124C>T p.Gln2042* Nonsense 11/27 - 2
13-32914617-A-C c.6125A>C p.Gln2042Pro Missense 11/27 - 1
13-32914623-G-C c.6131G>C p.Gly2044Ala Missense 11/27 - 4
13-32914623-G-T c.6131G>T p.Gly2044Val Missense 11/27 - 10
13-32914623-G-A c.6131G>A p.Gly2044Asp Missense 11/27 - 1
13-32914629-C-A c.6137C>A p.Ser2046* Nonsense 11/27 - 3
13-32914633-T-A c.6141T>A p.Tyr2047* Nonsense 11/27 - 2
13-32914635-A-T c.6143A>T p.Asn2048Ile Missense 11/27 - 3
13-32914637-G-A c.6145G>A p.Val2049Met Missense 11/27 - 1
13-32914639-TGGT-T c.6147_6149del p.Val2050del InFrameDeletion 11/27 - 1
13-32914642-A-AT c.6150_6151insT p.Asn2051* Nonsense 11/27 - 1
13-32914647-C-G c.6155C>G p.Ser2052* Nonsense 11/27 - 1
13-32914658-T-C c.6166T>C p.Ser2056Pro Missense 11/27 - 1
13-32914664-T-A c.6172T>A p.Phe2058Ile Missense 11/27 - 1
13-32914666-TT-T c.6174del p.Phe2058Leufs*12 Frameshift 11/27 - 36
13-32914679-GGA-TGT c.6187_6189delinsTGT p.Gly2063Cys Missense 11/27 - 1
13-32914688-GTTTCC-GTACAT c.6198_6201delinsACAT p.Ser2067His MultiAAMissense 11/27 - 1
13-32914690-TTT-T c.6198_6199del p.Ser2067Hisfs*10 Frameshift 11/27 - 5
13-32914694-A-AA c.6202dup p.Ile2068Asnfs*10 Frameshift 11/27 - 1
13-32914704-G-T c.6212G>T p.Ser2071Ile Missense 11/27 - 1
13-32914704-G-C c.6212G>C p.Ser2071Thr Missense 11/27 - 1
13-32914707-TCCT-T c.6215_6217del p.Ser2072del InFrameDeletion 11/27 - 1
13-32914707-C-G c.6215C>G p.Ser2072Cys Missense 11/27 - 2
13-32914708-C-G c.6216C>G p.Ser2072Ser Synonymous 11/27 - 1
13-32914708-C-A c.6216C>A p.Ser2072Ser Synonymous 11/27 - 1
13-32914708-C-T c.6216C>T p.Ser2072Ser Synonymous 11/27 - 1
13-32914712-C-A c.6220C>A p.His2074Asn Missense 11/27 - 3
13-32914714-C-T c.6222C>T p.His2074His Synonymous 11/27 - 1
13-32914723-G-C c.6231G>C p.Lys2077Asn Missense 11/27 - 3
13-32914734-GA-G c.6242del p.Glu2081Glyfs*5 Frameshift 11/27 - 1
13-32914735-AGGAA-A c.6243_6246del p.Glu2081Aspfs*4 Frameshift 11/27 - 1
13-32914736-GG-G c.6244del p.Glu2082Asnfs*4 Frameshift 11/27 - 1
13-32914751-CA-C c.6259del p.Arg2087Glufs*32 Frameshift 11/27 - 1
13-32914755-C-T c.6263C>T p.Thr2088Ile Missense 11/27 - 1
13-32914763-A-G c.6271A>G p.Ser2091Gly Missense 11/27 - 1
13-32914767-CTT-C c.6275_6276del p.Leu2092Profs*7 Frameshift 11/27 - 33
13-32914779-C-T c.6287C>T p.Pro2096Leu Missense 11/27 - 1
13-32914779-C-G c.6287C>G p.Pro2096Arg Missense 11/27 - 1
13-32914780-CTA-C c.6288_6289del p.Thr2097Valfs*2 Frameshift 11/27 - 2
13-32914782-C-T c.6290C>T p.Thr2097Met Missense 11/27 - 4
13-32914785-C-T c.6293C>T p.Ser2098Phe Missense 11/27 - 1
13-32914800-C-G c.6308C>G p.Ser2103* Nonsense 11/27 - 2
13-32914805-AA-A c.6313del p.Ile2105Tyrfs*14 Frameshift 11/27 - 1
13-32914807-TACTT-T c.6315_6318del p.Pro2107Valfs*11 Frameshift 11/27 - 1
13-32914809-T-C c.6317T>C p.Leu2106Pro Missense 11/27 - 2
13-32914814-C-T c.6322C>T p.Arg2108Cys Missense 11/27 - 16
13-32914815-G-A c.6323G>A p.Arg2108His Missense 11/27 - 9
13-32914815-G-T c.6323G>T p.Arg2108Leu Missense 11/27 - 1
13-32914817-G-A c.6325G>A p.Val2109Ile Missense 11/27 - 12
13-32914825-AGAGAA-A c.6333_6337del p.Arg2112Profs*15 Frameshift 11/27 - 1
13-32914830-A-G c.6338A>G p.Asn2113Ser Missense 11/27 - 3
13-32914835-G-A c.6343G>A p.Glu2115Lys Missense 11/27 - 1
13-32914839-A-G c.6347A>G p.His2116Arg Missense 11/27 - 7
13-32914843-GTGTAAACTCAGAAATGGAAAAAACCTG-G c.6351_6377del p.Val2118_Cys2126del InFrameDeletion 11/27 - 1
13-32914851-C-G c.6359C>G p.Ser2120* Nonsense 11/27 - 4
13-32914858-G-C c.6366G>C p.Met2122Ile Missense 11/27 - 1
13-32914858-G-T c.6366G>T p.Met2122Ile Missense 11/27 - 1
13-32914858-G-A c.6366G>A p.Met2122Ile Missense 11/27 - 1
13-32914865-A-AA c.6373dup p.Thr2125Asnfs*4 Frameshift 11/27 - 6
13-32914865-AA-A c.6373del p.Thr2125Profs*12 Frameshift 11/27 - 3
13-32914868-CTGC-C c.6376_6378del p.Cys2126del InFrameDeletion 11/27 - 1
13-32914871-CA-C c.6379del p.Ser2127Valfs*10 Frameshift 11/27 - 1
13-32914873-T-TTT c.6381_6382insTT p.Lys2128Leufs*10 Frameshift 11/27 - 1
13-32914877-G-T c.6385G>T p.Glu2129* Nonsense 11/27 - 1
13-32914885-AA-A c.6393del p.Lys2131Asnfs*6 Frameshift 11/27 - 2
13-32914885-AATTA-A c.6393_6396del p.Lys2131Asnfs*5 Frameshift 11/27 - 3
13-32914888-A-AA c.6396dup p.Ser2133Ilefs*3 Frameshift 11/27 - 1
13-32914892-AAA-A c.6400_6401del p.Asn2134* Frameshift 11/27 - 1
13-32914894-T-TT c.6402dup p.Asn2135* Nonsense 11/27 - 3
13-32914897-ACTTAA-A c.6405_6409del p.Asn2135Lysfs*3 Frameshift 11/27 - 19
13-32914898-CTT-C c.6406_6407del p.Leu2136Lysfs*3 Frameshift 11/27 - 4
13-32914900-TAAATGTT-T c.6408_6414del p.Asn2137Lysfs*29 Frameshift 11/27 - 2
13-32914902-AA-A c.6410del p.Asn2137Metfs*31 Frameshift 11/27 - 2
13-32914904-G-T c.6412G>T p.Val2138Phe Missense 11/27 - 5
13-32914905-T-A c.6413T>A p.Val2138Asp Missense 11/27 - 1
13-32914908-A-T c.6416A>T p.Glu2139Val Missense 11/27 - 1
13-32914910-G-GTGAA c.6418_6419insTGAA p.Gly2140Valfs*8 Frameshift 11/27 - 1
13-32914919-T-C c.6427T>C p.Ser2143Pro Missense 11/27 - 1
13-32914920-C-A c.6428C>A p.Ser2143* Nonsense 11/27 - 3
13-32914933-C-G c.6441C>G p.His2147Gln Missense 11/27 - 1
13-32914935-TCT-T c.6443_6444del p.Ser2148Tyrfs*2 Frameshift 11/27 - 1
13-32914935-C-A c.6443C>A p.Ser2148Tyr Missense 11/27 - 1
13-32914936-T-TT c.6444dup p.Ile2149Tyrfs*2 Frameshift 11/27 - 4
13-32914937-TAT-T c.6445_6446del p.Ile2149* Frameshift 11/27 - 2
13-32914938-ATTAAA-A c.6446_6450del p.Ile2149Serfs*25 Frameshift 11/27 - 1
13-32914938-ATTAA-A c.6446_6449del p.Ile2149Lysfs*18 Frameshift 11/27 - 1
13-32914939-TTA-T c.6447_6448del p.Lys2150Serfs*25 Frameshift 11/27 - 1
13-32914939-TA-TATA c.6447_6448dup p.Lys2150Ilefs*19 Frameshift 11/27 - 2
13-32914939-T-TT c.6447dup p.Lys2150* Nonsense 11/27 - 1
13-32914940-TAAAGTTTCTCCATATCTCTCTCAATT-T c.6448_6473del p.Lys2150Serfs*17 Frameshift 11/27 - 2
13-32914941-A-ATA c.6449_6450insTA p.Lys2150Asnfs*19 Frameshift 11/27 - 1
13-32914941-AAA-A c.6449_6450del p.Lys2150Serfs*25 Frameshift 11/27 - 1
13-32914942-AA-A c.6450del p.Val2151Phefs*17 Frameshift 11/27 - 3
13-32914942-A-AA c.6450dup p.Val2151Serfs*25 Frameshift 11/27 - 1
13-32914943-G-A c.6451G>A p.Val2151Ile Missense 11/27 - 1
13-32914947-C-A c.6455C>A p.Ser2152Tyr Missense 11/27 - 2
13-32914950-C-T c.6458C>T p.Pro2153Leu Missense 11/27 - 1
13-32914953-A-C c.6461A>C p.Tyr2154Ser Missense 11/27 - 1
13-32914958-CTCTC-C c.6466_6469del p.Ser2156Asnfs*11 Frameshift 11/27 - 1
13-32914959-C-T c.6467C>T p.Ser2156Phe Missense 11/27 - 1
13-32914960-CTC-C c.6468_6469del p.Gln2157Ilefs*18 Frameshift 11/27 - 11
13-32914961-C-T c.6469C>T p.Gln2157* Nonsense 11/27 - 3
13-32914965-T-G c.6473T>G p.Phe2158Cys Missense 11/27 - 1
13-32914967-C-G c.6475C>G p.Gln2159Glu Missense 11/27 - 1
13-32914975-C-CT c.6483_6484insT p.Lys2162* Nonsense 11/27 - 1
13-32914978-AACAA-A c.6486_6489del p.Lys2162Asnfs*5 Frameshift 11/27 - 15
13-32914978-A-C c.6486A>C p.Lys2162Asn Missense 11/27 - 1
13-32914978-A-T c.6486A>T p.Lys2162Asn Missense 11/27 - 1
13-32914982-C-T c.6490C>T p.Gln2164* Nonsense 11/27 - 3
13-32914983-CA-C c.6491del p.Gln2164Argfs*4 Frameshift 11/27 - 1
13-32914983-CAGTT-C c.6491_6494del p.Gln2164Argfs*3 Frameshift 11/27 - 3
13-32914988-G-T c.6496G>T p.Val2166Leu Missense 11/27 - 2
13-32914992-T-C c.6500T>C p.Leu2167Ser Missense 11/27 - 1
13-32914994-G-T c.6502G>T p.Gly2168* Nonsense 11/27 - 1
13-32915005-G-A c.6513G>A p.Val2171Val Synonymous 11/27 - 13
13-32915005-G-C c.6513G>C p.Val2171Val Synonymous 11/27 - 19
13-32915005-G-T c.6513G>T p.Val2171Val Synonymous 11/27 - 14
13-32915015-G-C c.6523G>C p.Glu2175Gln Missense 11/27 - 1
13-32915023-TTCAT-T c.6531_6534del p.Ile2177Metfs*13 Frameshift 11/27 - 2
13-32915027-G-GA c.6535_6536insA p.Val2179Aspfs*10 Frameshift 11/27 - 2
13-32915028-T-C c.6536T>C p.Val2179Ala Missense 11/27 - 1
13-32915033-G-T c.6541G>T p.Gly2181* Nonsense 11/27 - 1
13-32915039-G-T c.6547G>T p.Glu2183* Nonsense 11/27 - 3
13-32915042-C-T c.6550C>T p.Gln2184* Nonsense 11/27 - 1
13-32915045-GG-G c.6553del p.Ala2185Leufs*6 Frameshift 11/27 - 3
13-32915046-C-T c.6554C>T p.Ala2185Val Missense 11/27 - 1
13-32915048-T-A c.6556T>A p.Ser2186Thr Missense 11/27 - 1
13-32915054-A-G c.6562A>G p.Lys2188Glu Missense 11/27 - 1
13-32915058-A-AA c.6566dup p.Asn2189Lysfs*8 Frameshift 11/27 - 1
13-32915066-AA-A c.6574del p.Met2192Trpfs*14 Frameshift 11/27 - 1
13-32915069-G-A c.6577G>A p.Glu2193Lys Missense 11/27 - 1
13-32915072-A-AA c.6580dup p.Ile2194Asnfs*3 Frameshift 11/27 - 2
13-32915081-AA-A c.6589del p.Thr2197Leufs*9 Frameshift 11/27 - 1
13-32915082-C-CA c.6590_6591insA p.Glu2198* Nonsense 11/27 - 2
13-32915083-CTG-C c.6591_6592del p.Glu2198Asnfs*4 Frameshift 11/27 - 15
13-32915103-C-CC c.6611dup p.Val2205Cysfs*20 Frameshift 11/27 - 1
13-32915103-CC-C c.6611del p.Pro2204Leufs*2 Frameshift 11/27 - 2
13-32915105-G-A c.6613G>A p.Val2205Met Missense 11/27 - 1
13-32915114-AAA-A c.6622_6623del p.Asn2208Tyrfs*16 Frameshift 11/27 - 1
13-32915115-AA-A c.6623del p.Asn2208Ilefs*2 Frameshift 11/27 - 1
13-32915120-G-T c.6628G>T p.Glu2210* Nonsense 11/27 - 1
13-32915121-GAA-G c.6629_6630del p.Glu2210Glyfs*14 Frameshift 11/27 - 4
13-32915125-TTTGTT-T c.6633_6637del p.Cys2212Tyrfs*11 Frameshift 11/27 - 1
13-32915129-T-C c.6637T>C p.Ser2213Pro Missense 11/27 - 1
13-32915130-TC-T c.6638del p.Ser2213Leufs*16 Frameshift 11/27 - 1
13-32915130-CT-AA c.6638_6639delinsAA p.Ser2213* Nonsense 11/27 - 1
13-32915132-A-AA c.6640dup p.Thr2214Asnfs*11 Frameshift 11/27 - 1
13-32915133-C-T c.6641C>T p.Thr2214Ile Missense 11/27 - 2
13-32915133-C-CC c.6641dup p.Tyr2215Leufs*10 Frameshift 11/27 - 2
13-32915136-TACTC-T c.6644_6647del p.Tyr2215Serfs*13 Frameshift 11/27 - 2
13-32915136-A-AA c.6644dup p.Tyr2215* Nonsense 11/27 - 1
13-32915137-AC-A c.6645del p.Ser2216Profs*13 Frameshift 11/27 - 2
13-32915137-C-G c.6645C>G p.Tyr2215* Nonsense 11/27 - 1
13-32915142-A-G c.6650A>G p.Lys2217Arg Missense 11/27 - 1
13-32915142-AAAGAT-A c.6650_6654del p.Lys2217Ilefs*6 Frameshift 11/27 - 1
13-32915144-G-T c.6652G>T p.Asp2218Tyr Missense 11/27 - 1
13-32915144-AG-A c.6652del p.Asp2218Ilefs*11 Frameshift 11/27 - 1
13-32915148-C-G c.6656C>G p.Ser2219* Nonsense 11/27 - 8
13-32915150-AGAAAA-A c.6658_6662del p.Glu2220Leufs*3 Frameshift 11/27 - 1
13-32915157-A-G c.6665A>G p.Tyr2222Cys Missense 11/27 - 3
13-32915167-A-G c.6675A>G p.Thr2225Thr Synonymous 11/27 - 1
13-32915168-AGA-A c.6676_6677del p.Glu2226Serfs*6 Frameshift 11/27 - 2
13-32915169-GAA-G c.6677_6678del p.Glu2226Glyfs*6 Frameshift 11/27 - 1
13-32915177-G-T c.6685G>T p.Glu2229* Nonsense 11/27 - 3
13-32915194-TT-T c.6702del p.Phe2234Leufs*7 Frameshift 11/27 - 1
13-32915198-G-A c.6706G>A p.Glu2236Lys Missense 11/27 - 3
13-32915207-G-T c.6715G>T p.Glu2239* Nonsense 11/27 - 1
13-32915215-A-AT c.6723_6724insT p.Asp2242* Nonsense 11/27 - 1
13-32915216-AGA-A c.6724_6725del p.Asp2242Phefs*2 Frameshift 11/27 - 5
13-32915217-A-T c.6725A>T p.Asp2242Val Missense 11/27 - 1
13-32915220-C-A c.6728C>A p.Ser2243Tyr Missense 11/27 - 1
13-32915222-A-T c.6730A>T p.Lys2244* Nonsense 11/27 - 1
13-32915231-A-G c.6739A>G p.Ser2247Gly Missense 11/27 - 2
13-32915235-CA-C c.6743del p.His2248Leufs*32 Frameshift 11/27 - 1
13-32915235-A-T c.6743A>T p.His2248Leu Missense 11/27 - 1
13-32915240-A-G c.6748A>G p.Thr2250Ala Missense 11/27 - 4
13-32915241-C-T c.6749C>T p.Thr2250Ile Missense 11/27 - 1
13-32915242-A-G c.6750A>G p.Thr2250Thr Synonymous 11/27 - 1
13-32915244-A-AA c.6752dup p.His2251Glnfs*10 Frameshift 11/27 - 1
13-32915245-ATT-A c.6753_6754del p.Leu2253Phefs*7 Frameshift 11/27 - 1
13-32915246-T-TT c.6754dup p.Ser2252Phefs*9 Frameshift 11/27 - 1
13-32915253-TTT-T c.6761_6762del p.Phe2254Tyrfs*6 Frameshift 11/27 - 2
13-32915255-A-T c.6763A>T p.Thr2255Ser Missense 11/27 - 1
13-32915260-T-A c.6768T>A p.Cys2256* Nonsense 11/27 - 1
13-32915261-C-T c.6769C>T p.Pro2257Ser Missense 11/27 - 1
13-32915292-C-A c.6800C>A p.Ser2267* Nonsense 11/27 - 1
13-32915295-G-A c.6803G>A p.Arg2268Lys Missense 11/27 - 1
13-32915297-AATT-A c.6805_6807del p.Ile2269del InFrameDeletion 11/27 - 2
13-32915306-AA-A c.6814del p.Arg2272Glufs*8 Frameshift 11/27 - 2
13-32915308-GAAGAG-G c.6816_6820del p.Gly2274Alafs*17 Frameshift 11/27 - 1
13-32915313-G-T c.6821G>T p.Gly2274Val Missense 11/27 - 3
13-32915316-A-G c.6824A>G p.Glu2275Gly Missense 11/27 - 1
13-32915332-G-GA c.6840_6841insA p.Gly2281Argfs*12 SpliceDonorInsertion 11/27 - 3
13-32915332-G-GC c.6840_6841insC p.Gly2281Argfs*12 SpliceDonorInsertion 11/27 - 3
13-32915332-G-GT c.6840_6841insT p.Gly2281Trpfs*12 SpliceDonorInsertion 11/27 - 3
13-32915334-G-T c.6841+1G>T - IntronicSNV - 11/26 1
13-32915413-ATTAA-A c.6841+80_6841+83del - IntronicDeletion - 11/26 1
13-32915414-TT-T c.6841+81del - IntronicDeletion - 11/26 1
13-32915524-C-A c.6841+191C>A - IntronicSNV - 11/26 1
13-32916297-C-A c.6841+964C>A - IntronicSNV - 11/26 2
13-32918675-T-A c.6842-20T>A - IntronicSNV - 11/26 1
13-32918693-A-G c.6842-2A>G - IntronicSNV - 11/26 1
13-32918695-G-A c.6842G>A p.Gly2281Glu Missense 12/27 - 1
13-32918695-G-T c.6842G>T p.Gly2281Val Missense 12/27 - 1
13-32918700-C-A c.6847C>A p.Pro2283Thr Missense 12/27 - 1
13-32918700-C-G c.6847C>G p.Pro2283Ala Missense 12/27 - 1
13-32918701-C-A c.6848C>A p.Pro2283His Missense 12/27 - 1
13-32918706-A-G c.6853A>G p.Ile2285Val Missense 12/27 - 12
13-32918720-A-T c.6867A>T p.Leu2289Phe Missense 12/27 - 1
13-32918727-TGAAT-T c.6874_6877del p.Glu2292Leufs*4 Frameshift 12/27 - 1
13-32918728-A-G c.6875A>G p.Glu2292Gly Missense 12/27 - 1
13-32918728-A-C c.6875A>C p.Glu2292Ala Missense 12/27 - 1
13-32918732-T-A c.6879T>A p.Phe2293Leu Missense 12/27 - 1
13-32918732-T-G c.6879T>G p.Phe2293Leu Missense 12/27 - 1
13-32918730-T-C c.6877T>C p.Phe2293Leu Missense 12/27 - 1
13-32918739-A-C c.6886A>C p.Ile2296Leu Missense 12/27 - 1
13-32918754-G-T c.6901G>T p.Glu2301* Nonsense 12/27 - 3
13-32918769-G-C c.6916G>C p.Ala2306Pro Missense 12/27 - 2
13-32918769-G-T c.6916G>T p.Ala2306Ser Missense 12/27 - 1
13-32918775-A-T c.6922A>T p.Lys2308* Nonsense 12/27 - 1
13-32918780-C-T c.6927C>T p.Ser2309Ser Synonymous 12/27 - 1
13-32918781-A-C c.6928A>C p.Thr2310Pro Missense 12/27 - 1
13-32918782-C-A c.6929C>A p.Thr2310Asn Missense 12/27 - 1
13-32918788-A-T c.6935A>T p.Asp2312Val Missense 12/27 - 6
13-32918791-G-A c.6937+1G>A - IntronicSNV - 12/26 2
13-32918791-G-T c.6937+1G>T - IntronicSNV - 12/26 1
13-32918967-G-A c.6937+177G>A - IntronicSNV - 12/26 1
13-32919384-T-G c.6937+594T>G - IntronicSNV - 12/26 7
13-32919637-T-G c.6937+847T>G - IntronicSNV - 12/26 1
13-32920618-G-A c.6938-346G>A - IntronicSNV - 12/26 4
13-32920963-G-A c.6938-1G>A - IntronicSNV - 12/26 1
13-32920964-G-C c.6938G>C p.Gly2313Ala Missense 13/27 - 1
13-32920964-GG-G c.6938del p.Gly2313Alafs*3 Frameshift 13/27 - 1
13-32920965-GC-G c.6939del p.Thr2314Glnfs*2 Frameshift 13/27 - 1
13-32920969-A-C c.6943A>C p.Ile2315Leu Missense 13/27 - 1
13-32920970-ATAAA-A c.6944_6947del p.Ile2315Lysfs*12 Frameshift 13/27 - 4
13-32920978-C-T c.6952C>T p.Arg2318* Nonsense 13/27 - 29
13-32920979-G-A c.6953G>A p.Arg2318Gln Missense 13/27 - 4
13-32920985-T-A c.6959T>A p.Leu2320* Nonsense 13/27 - 1
13-32920992-G-T c.6966G>T p.Met2322Ile Missense 13/27 - 2
13-32920996-C-G c.6970C>G p.His2324Asp Missense 13/27 - 1
13-32921003-C-G c.6977C>G p.Ser2326Cys Missense 13/27 - 1
13-32921012-C-T c.6986C>T p.Pro2329Leu Missense 13/27 - 2
13-32921013-CGATTACC-C c.6987_6993del p.Ile2330Valfs*35 Frameshift 13/27 - 1
13-32921014-A-G c.6988A>G p.Ile2330Val Missense 13/27 - 3
13-32921021-G-T c.6995G>T p.Cys2332Phe Missense 13/27 - 1
13-32921024-T-TT c.6998dup p.Pro2334Thrfs*6 Frameshift 13/27 - 2
13-32921031-T-TG c.7005_7006insG p.Arg2336Alafs*4 SpliceDonorInsertion 13/27 - 1
13-32921032-C-T c.7006C>T p.Arg2336Cys Missense 13/27 - 5
13-32921032-TC-T c.7006del p.Arg2336Alafs*31 Frameshift 13/27 - 1
13-32921033-G-C c.7007G>C p.Arg2336Pro Missense 13/27 - 10
13-32921033-G-A c.7007G>A p.Arg2336His Missense 13/27 - 30
13-32921033-G-T c.7007G>T p.Arg2336Leu Missense 13/27 - 6
13-32921034-G-C c.7007+1G>C - IntronicSNV - 13/26 4
13-32921038-G-A c.7007+5G>A - IntronicSNV - 13/26 2
13-32921038-G-C c.7007+5G>C - IntronicSNV - 13/26 1
13-32921086-G-A c.7007+53G>A - IntronicSNV - 13/26 2
13-32921944-A-G c.7007+911A>G - IntronicSNV - 13/26 1
13-32922136-C-T c.7007+1103C>T - IntronicSNV - 13/26 3
13-32922331-A-C c.7007+1298A>C - IntronicSNV - 13/26 3
13-32923690-C-T c.7007+2657C>T - IntronicSNV - 13/26 5
13-32923724-G-A c.7007+2691G>A - IntronicSNV - 13/26 1
13-32927017-G-A c.7008-1981G>A - IntronicSNV - 13/26 2
13-32927894-C-T c.7008-1104C>T - IntronicSNV - 13/26 4
13-32927894-C-A c.7008-1104C>A - IntronicSNV - 13/26 4
13-32928202-A-G c.7008-796A>G - IntronicSNV - 13/26 2
13-32928936-A-G c.7008-62A>G - IntronicSNV - 13/26 6
13-32928993-T-C c.7008-5T>C - IntronicSNV - 13/26 1
13-32928995-C-G c.7008-3C>G - IntronicSNV - 13/26 1
13-32928996-A-T c.7008-2A>T - IntronicSNV - 13/26 4
13-32928997-G-A c.7008-1G>A - IntronicSNV - 13/26 1
13-32928998-C-CTTCA c.7008_7009insTTCA p.Thr2337Phefs*4 SpliceAcceptorInsertion 14/27 - 1
13-32928999-CACAACTAAGGAACGTCAAGAGATACAGAATCCAAATTTTACCGCACCTGGTCAAGAATT-C c.7009_7067del p.Thr2337Serfs*3 InFrameDeletion 14/27 - 1
13-32928999-A-AA c.7009dup p.Thr2337Asnfs*3 SpliceAcceptorInsertion 14/27 - 1
13-32928999-A-G c.7009A>G p.Thr2337Ala Missense 14/27 - 1
13-32929000-C-T c.7010C>T p.Thr2337Ile Missense 14/27 - 1
13-32929000-ACA-A c.7010_7011del p.Thr2337Asnfs*2 Frameshift 14/27 - 1
13-32929003-ACTAAGGAACGTCAAGAGATACAGAATCCAA-A c.7013_7042del p.Thr2338_Pro2347del InFrameDeletion 14/27 - 1
13-32929007-G-C c.7017G>C p.Lys2339Asn Missense 14/27 - 1
13-32929007-G-A c.7017G>A p.Lys2339Lys Synonymous 14/27 - 1
13-32929011-C-T c.7021C>T p.Arg2341Cys Missense 14/27 - 3
13-32929014-C-T c.7024C>T p.Gln2342* Nonsense 14/27 - 4
13-32929020-A-G c.7030A>G p.Ile2344Val Missense 14/27 - 1
13-32929025-AGAATCCAAATTTTACCGCACCTGGTCAAGA-A c.7035_7064del p.Asn2346_Glu2355del InFrameDeletion 14/27 - 1
13-32929027-A-G c.7037A>G p.Asn2346Ser Missense 14/27 - 1
13-32929030-C-A c.7040C>A p.Pro2347Gln Missense 14/27 - 1
13-32929040-C-T c.7050C>T p.Thr2350Thr Synonymous 14/27 - 1
13-32929041-G-C c.7051G>C p.Ala2351Pro Missense 14/27 - 1
13-32929041-G-A c.7051G>A p.Ala2351Thr Missense 14/27 - 2
13-32929042-C-G c.7052C>G p.Ala2351Gly Missense 14/27 - 8
13-32929045-C-T c.7055C>T p.Pro2352Leu Missense 14/27 - 1
13-32929047-G-C c.7057G>C p.Gly2353Arg Missense 14/27 - 7
13-32929050-C-T c.7060C>T p.Gln2354* Nonsense 14/27 - 3
13-32929053-G-T c.7063G>T p.Glu2355* Nonsense 14/27 - 1
13-32929055-AA-A c.7065del p.Glu2355Aspfs*12 Frameshift 14/27 - 1
13-32929055-A-C c.7065A>C p.Glu2355Asp Missense 14/27 - 1
13-32929055-AATT-A c.7065_7067del p.Glu2355_Phe2356delinsAsp MultiAAMissense 14/27 - 1
13-32929059-TCT-T c.7069_7070del p.Leu2357Valfs*2 Frameshift 14/27 - 9
13-32929062-T-C c.7072T>C p.Ser2358Pro Missense 14/27 - 1
13-32929071-C-T c.7081C>T p.His2361Tyr Missense 14/27 - 1
13-32929081-A-T c.7091A>T p.Glu2364Val Missense 14/27 - 1
13-32929083-C-A c.7093C>A p.His2365Asn Missense 14/27 - 1
13-32929092-T-G c.7102T>G p.Leu2368Val Missense 14/27 - 1
13-32929100-AA-A c.7110del p.Lys2370Asnfs*6 Frameshift 14/27 - 8
13-32929100-A-AA c.7110dup p.Ser2371Ilefs*21 Frameshift 14/27 - 2
13-32929105-C-G c.7115C>G p.Ser2372* Nonsense 14/27 - 2
13-32929108-G-C c.7118G>C p.Ser2373Thr Missense 14/27 - 1
13-32929122-T-G c.7132T>G p.Ser2378Ala Missense 14/27 - 1
13-32929123-C-G c.7133C>G p.Ser2378* Nonsense 14/27 - 3
13-32929132-CC-C c.7142del p.Pro2381Hisfs*13 Frameshift 14/27 - 2
13-32929139-T-A c.7149T>A p.Tyr2383* Nonsense 14/27 - 1
13-32929140-C-A c.7150C>A p.Gln2384Lys Missense 14/27 - 5
13-32929141-CAA-C c.7151_7152del p.Gln2384Argfs*7 Frameshift 14/27 - 1
13-32929147-C-A c.7157C>A p.Ser2386Tyr Missense 14/27 - 1
13-32929149-G-C c.7159G>C p.Ala2387Pro Missense 14/27 - 1
13-32929160-T-G c.7170T>G p.Asn2390Lys Missense 14/27 - 1
13-32929161-G-T c.7171G>T p.Glu2391* Nonsense 14/27 - 1
13-32929166-A-C c.7176A>C p.Lys2392Asn Missense 14/27 - 1
13-32929166-A-T c.7176A>T p.Lys2392Asn Missense 14/27 - 1
13-32929167-A-G c.7177A>G p.Met2393Val Missense 14/27 - 1
13-32929168-ATG-A c.7178_7179del p.Met2393Lysfs*18 Frameshift 14/27 - 2
13-32929170-A-T c.7180A>T p.Arg2394* Nonsense 14/27 - 14
13-32929172-A-G c.7182A>G p.Arg2394Arg Synonymous 14/27 - 1
13-32929178-G-T c.7188G>T p.Leu2396Phe Missense 14/27 - 3
13-32929183-C-G c.7193C>G p.Thr2398Ser Missense 14/27 - 1
13-32929183-C-T c.7193C>T p.Thr2398Ile Missense 14/27 - 1
13-32929185-A-G c.7195A>G p.Thr2399Ala Missense 14/27 - 1
13-32929188-G-GT c.7198_7199insT p.Gly2400Valfs*12 Frameshift 14/27 - 1
13-32929193-A-G c.7203A>G p.Arg2401Arg Synonymous 14/27 - 1
13-32929201-AAA-A c.7211_7212del p.Lys2404Serfs*7 Frameshift 14/27 - 2
13-32929206-TT-GA c.7216_7217delinsGA p.Phe2406Asp Missense 14/27 - 1
13-32929208-T-G c.7218T>G p.Phe2406Leu Missense 14/27 - 4
13-32929207-T-G c.7217T>G p.Phe2406Cys Missense 14/27 - 1
13-32929215-C-T c.7225C>T p.Pro2409Ser Missense 14/27 - 2
13-32929220-TT-T c.7230del p.Phe2410Leufs*59 Frameshift 14/27 - 2
13-32929222-A-C c.7232A>C p.Lys2411Thr Missense 14/27 - 7
13-32929224-AA-A c.7234del p.Thr2412Leufs*57 Frameshift 14/27 - 1
13-32929224-A-AG c.7234_7235insG p.Thr2412Serfs*2 Frameshift 14/27 - 3
13-32929225-C-CG c.7235_7236insG p.Lys2413* Nonsense 14/27 - 10
13-32929231-C-T c.7241C>T p.Ser2414Leu Missense 14/27 - 2
13-32929232-A-T c.7242A>T p.Ser2414Ser Synonymous 14/27 - 35
13-32929232-A-G c.7242A>G p.Ser2414Ser Synonymous 14/27 - 46
13-32929233-C-T c.7243C>T p.His2415Tyr Missense 14/27 - 1
13-32929234-A-G c.7244A>G p.His2415Arg Missense 14/27 - 1
13-32929241-ACA-A c.7251_7252del p.His2417Glnfs*3 Frameshift 14/27 - 2
13-32929242-A-G c.7252A>G p.Arg2418Gly Missense 14/27 - 3
13-32929244-GAG-G c.7254_7255del p.Arg2418Serfs*2 Frameshift 14/27 - 1
13-32929248-G-T c.7258G>T p.Glu2420* Nonsense 14/27 - 1
13-32929250-A-AA c.7260dup p.Gln2421Thrfs*4 Frameshift 14/27 - 1
13-32929251-C-G c.7261C>G p.Gln2421Glu Missense 14/27 - 1
13-32929256-T-A c.7266T>A p.Cys2422* Nonsense 14/27 - 1
13-32929268-T-A c.7278T>A p.Ile2426Ile Synonymous 14/27 - 1
13-32929268-T-C c.7278T>C p.Ile2426Ile Synonymous 14/27 - 1
13-32929284-A-G c.7294A>G p.Arg2432Gly Missense 14/27 - 1
13-32929286-A-G c.7296A>G p.Arg2432Arg Synonymous 14/27 - 1
13-32929291-A-C c.7301A>C p.Lys2434Thr Missense 14/27 - 3
13-32929293-C-T c.7303C>T p.Gln2435* Nonsense 14/27 - 2
13-32929297-A-T c.7307A>T p.Asn2436Ile Missense 14/27 - 6
13-32929298-AC-A c.7308del p.Asn2436Lysfs*33 Frameshift 14/27 - 2
13-32929302-G-A c.7312G>A p.Asp2438Asn Missense 14/27 - 1
13-32929306-GG-G c.7316del p.Gly2439Aspfs*30 Frameshift 14/27 - 1
13-32929309-A-G c.7319A>G p.His2440Arg Missense 14/27 - 2
13-32929312-GG-G c.7322del p.Gly2441Alafs*28 Frameshift 14/27 - 1
13-32929320-G-T c.7330G>T p.Asp2444Tyr Missense 14/27 - 1
13-32929326-A-G c.7336A>G p.Lys2446Glu Missense 14/27 - 2
13-32929329-A-G c.7339A>G p.Asn2447Asp Missense 14/27 - 1
13-32929344-A-G c.7354A>G p.Asn2452Asp Missense 14/27 - 1
13-32929345-AA-A c.7355del p.Asn2452Metfs*17 Frameshift 14/27 - 1
13-32929350-GA-G c.7360del p.Ile2454Phefs*15 Frameshift 14/27 - 1
13-32929368-AAACAACTCCAATCAAGCAGTAGCTGTAACT-A c.7378_7407del p.Asn2460_Thr2469del InFrameDeletion 14/27 - 1
13-32929369-AACAA-A c.7379_7382del p.Asn2460Thrfs*8 Frameshift 14/27 - 2
13-32929383-G-A c.7393G>A p.Ala2465Thr Missense 14/27 - 1
13-32929387-T-C c.7397T>C p.Ala2466Ala Missense 14/27 - 16
13-32929392-TGTAACTTTCACAAAGTGTGAAGAAGAACCTT-T c.7402_7432del p.Val2468* Frameshift 14/27 - 1
13-32929399-T-TT c.7409dup p.Thr2471Hisfs*4 Frameshift 14/27 - 5
13-32929401-A-T c.7411A>T p.Thr2471Ser Missense 14/27 - 1
13-32929403-A-G c.7413A>G p.Thr2471Thr Synonymous 14/27 - 1
13-32929403-A-T c.7413A>T p.Thr2471Thr Synonymous 14/27 - 1
13-32929403-A-C c.7413A>C p.Thr2471Thr Synonymous 14/27 - 1
13-32929405-A-C c.7415A>C p.Lys2472Thr Missense 14/27 - 2
13-32929408-G-A c.7418G>A p.Cys2473Tyr Missense 14/27 - 2
13-32929409-GTG-G c.7419_7420del p.Cys2473* Frameshift 14/27 - 1
13-32929416-AGAA-A c.7426_7428del p.Glu2476del InFrameDeletion 14/27 - 1
13-32929418-A-G c.7428A>G p.Glu2476Glu Synonymous 14/27 - 1
13-32929424-A-C c.7434A>C p.Leu2478Phe Missense 14/27 - 1
13-32929426-G-C c.7435+1G>C - IntronicSNV - 14/26 1
13-32929428-A-G c.7435+3A>G - IntronicSNV - 14/26 1
13-32929430-T-C c.7435+5T>C - IntronicSNV - 14/26 1
13-32929431-G-A c.7435+6G>A - IntronicSNV - 14/26 3
13-32929432-T-G c.7435+7T>G - IntronicSNV - 14/26 1
13-32929435-G-A c.7435+10G>A - IntronicSNV - 14/26 2
13-32929478-C-T c.7435+53C>T - IntronicSNV - 14/26 3
13-32930543-C-T c.7436-22C>T - IntronicSNV - 14/26 1
13-32930551-T-G c.7436-14T>G - IntronicSNV - 14/26 2
13-32930561-A-G c.7436-4A>G - IntronicSNV - 14/26 2
13-32930561-A-T c.7436-4A>T - IntronicSNV - 14/26 1
13-32930563-A-G c.7436-2A>G - IntronicSNV - 14/26 1
13-32930563-A-T c.7436-2A>T - IntronicSNV - 14/26 2
13-32930564-G-A c.7436-1G>A - IntronicSNV - 14/26 1
13-32930565-GA-G c.7436del p.Asp2479Valfs*2 Frameshift 15/27 - 1
13-32930565-GATTTAATTACAAGTCTTCAGAATGCCAGAGATATACAGGATATGCGAATTAAGAAGAAA-G c.7436_7494del p.Asp2479Alafs*40 Unclassified 15/27 - 7
13-32930567-TTTAATTACAAGTCTTCAGAATGCCAGAGAT-T c.7438_7467del p.Leu2480_Asp2489del InFrameDeletion 15/27 - 1
13-32930567-T-G c.7438T>G p.Leu2480Val Missense 15/27 - 1
13-32930572-TT-T c.7443del p.Thr2482Glnfs*42 Frameshift 15/27 - 1
13-32930576-A-G c.7447A>G p.Ser2483Gly Missense 15/27 - 2
13-32930577-G-A c.7448G>A p.Ser2483Asn Missense 15/27 - 2
13-32930587-T-A c.7458T>A p.Asn2486Lys Missense 15/27 - 1
13-32930587-T-G c.7458T>G p.Asn2486Lys Missense 15/27 - 1
13-32930591-A-G c.7462A>G p.Arg2488Gly Missense 15/27 - 4
13-32930592-AGAGATATACAGGATATGCGAATTAAGAAGA-A c.7463_7492del p.Arg2488_Lys2497del InFrameDeletion 15/27 - 1
13-32930592-G-A c.7463G>A p.Arg2488Lys Missense 15/27 - 2
13-32930593-A-C c.7464A>C p.Arg2488Ser Missense 15/27 - 1
13-32930593-A-ATA c.7464_7465insTA p.Asp2489* Nonsense 15/27 - 1
13-32930595-A-G c.7466A>G p.Asp2489Gly Missense 15/27 - 1
13-32930596-T-C c.7467T>C p.Asp2489Asp Synonymous 15/27 - 1
13-32930597-ATA-TAT c.7468_7470inv p.Ile2490Tyr Missense 15/27 - 1
13-32930598-T-C c.7469T>C p.Ile2490Thr Missense 15/27 - 26
13-32930599-A-G c.7470A>G p.Ile2490Met Missense 15/27 - 1
13-32930600-C-T c.7471C>T p.Gln2491* Nonsense 15/27 - 3
13-32930600-AC-A c.7471del p.Gln2491Argfs*33 Frameshift 15/27 - 1
13-32930601-A-G c.7472A>G p.Gln2491Arg Missense 15/27 - 1
13-32930603-GGA-G c.7474_7475del p.Asp2492Tyrfs*4 Frameshift 15/27 - 1
13-32930609-C-T c.7480C>T p.Arg2494* Nonsense 15/27 - 43
13-32930609-C-A c.7480C>A p.Arg2494Arg Synonymous 15/27 - 1
13-32930610-G-A c.7481G>A p.Arg2494Gln Missense 15/27 - 2
13-32930611-A-ACC c.7482_7483insCC p.Ile2495Profs*30 Frameshift 15/27 - 1
13-32930613-T-C c.7484T>C p.Ile2495Thr Missense 15/27 - 1
13-32930614-T-TT c.7485dup p.Lys2496* Nonsense 15/27 - 1
13-32930616-A-AA c.7487dup p.Lys2497Glufs*42 Frameshift 15/27 - 1
13-32930621-A-G c.7492A>G p.Lys2498Glu Missense 15/27 - 3
13-32930624-C-T c.7495C>T p.Gln2499* Nonsense 15/27 - 1
13-32930630-C-T c.7501C>T p.Gln2501* Nonsense 15/27 - 3
13-32930633-CGC-TGA c.7504_7506delinsTGA p.Arg2502* Nonsense 15/27 - 1
13-32930633-C-T c.7504C>T p.Arg2502Cys Missense 15/27 - 6
13-32930634-G-A c.7505G>A p.Arg2502His Missense 15/27 - 7
13-32930635-GC-G c.7506del p.Val2503Serfs*21 Frameshift 15/27 - 1
13-32930636-G-A c.7507G>A p.Val2503Ile Missense 15/27 - 4
13-32930642-C-T c.7513C>T p.Pro2505Ser Missense 15/27 - 1
13-32930648-GCCAG-G c.7519_7522del p.Pro2507Alafs*16 Frameshift 15/27 - 1
13-32930650-A-G c.7521A>G p.Pro2507Pro Synonymous 15/27 - 1
13-32930651-G-C c.7522G>C p.Gly2508Arg Missense 15/27 - 1
13-32930651-G-A c.7522G>A p.Gly2508Ser Missense 15/27 - 15
13-32930652-GGCAG-G c.7523_7526del p.Gly2508Valfs*15 Frameshift 15/27 - 1
13-32930655-G-A c.7526G>A p.Ser2509Asn Missense 15/27 - 1
13-32930657-C-A c.7528C>A p.Leu2510Met Missense 15/27 - 1
13-32930658-T-C c.7529T>C p.Leu2510Pro Missense 15/27 - 8
13-32930659-TGT-T c.7530_7531del p.Tyr2511Serfs*27 Frameshift 15/27 - 1
13-32930663-C-T c.7534C>T p.Leu2512Phe Missense 15/27 - 4
13-32930669-A-G c.7540A>G p.Lys2514Glu Missense 15/27 - 1
13-32930672-A-AA c.7543dup p.Thr2515Asnfs*24 Frameshift 15/27 - 4
13-32930673-C-T c.7544C>T p.Thr2515Ile Missense 15/27 - 13
13-32930674-A-AA c.7545dup p.Ser2516Ilefs*23 Frameshift 15/27 - 1
13-32930676-C-G c.7547C>G p.Ser2516Cys Missense 15/27 - 1
13-32930681-C-T c.7552C>T p.Leu2518Leu Synonymous 15/27 - 1
13-32930682-T-TT c.7553dup p.Pro2519Alafs*20 Frameshift 15/27 - 1
13-32930685-C-CC c.7556dup p.Arg2520Serfs*19 Frameshift 15/27 - 1
13-32930687-C-T c.7558C>T p.Arg2520* Nonsense 15/27 - 23
13-32930688-G-A c.7559G>A p.Arg2520Gln Missense 15/27 - 3
13-32930690-AATCTCTCTGAAAGCAGCAGTAGGAGGCCAA-A c.7561_7590del p.Ile2521_Gln2530del InFrameDeletion 15/27 - 1
13-32930691-T-C c.7562T>C p.Ile2521Thr Missense 15/27 - 1
13-32930694-C-T c.7565C>T p.Ser2522Phe Missense 15/27 - 3
13-32930696-TCT-T c.7567_7568del p.Leu2523Glufs*15 Frameshift 15/27 - 1
13-32930704-CA-C c.7575del p.Ala2526Glnfs*2 Frameshift 15/27 - 1
13-32930708-AG-A c.7579del p.Val2527* Frameshift 15/27 - 2
13-32930709-T-C c.7580T>C p.Val2527Ala Missense 15/27 - 1
13-32930715-GGCCAAGTTCCCTCTGCGTGTTCTCATAAAC-G c.7586_7615del p.Gly2529_Gln2539delinsGlu MultiAAMissense 15/27 - 1
13-32930717-C-T c.7588C>T p.Gln2530* Nonsense 15/27 - 3
13-32930724-C-T c.7595C>T p.Pro2532Leu Missense 15/27 - 1
13-32930727-C-G c.7598C>G p.Ser2533Cys Missense 15/27 - 1
13-32930730-C-T c.7601C>T p.Ala2534Val Missense 15/27 - 5
13-32930731-G-A c.7602G>A p.Ala2534Ala Synonymous 15/27 - 1
13-32930731-G-C c.7602G>C p.Ala2534Ala Synonymous 15/27 - 1
13-32930731-G-T c.7602G>T p.Ala2534Ala Synonymous 15/27 - 1
13-32930734-T-A c.7605T>A p.Cys2535* Nonsense 15/27 - 1
13-32930738-C-T c.7609C>T p.His2537Tyr Missense 15/27 - 1
13-32930740-ATAAAC-A c.7611_7615del p.His2537Glnfs*9 Frameshift 15/27 - 1
13-32930744-C-T c.7615C>T p.Gln2539* Nonsense 15/27 - 1
13-32930746-G-A c.7617G>A p.Gln2539Gln Synonymous 15/27 - 1
13-32930747-G-A c.7617+1G>A - IntronicSNV - 15/26 5
13-32930747-G-T c.7617+1G>T - IntronicSNV - 15/26 3
13-32930748-T-G c.7617+2T>G - IntronicSNV - 15/26 4
13-32930755-TTTGT-T c.7617+9_7617+12del - IntronicDeletion - 15/26 1
13-32931613-TCACAGTACCT-T c.7618-266_7618-257del - IntronicDeletion - 15/26 1
13-32931868-TA-T c.7618-11del - IntronicDeletion - 15/26 1
13-32931877-A-G c.7618-2A>G - IntronicSNV - 15/26 5
13-32931877-A-T c.7618-2A>T - IntronicSNV - 15/26 2
13-32931878-G-A c.7618-1G>A - IntronicSNV - 15/26 5
13-32931878-G-C c.7618-1G>C - IntronicSNV - 15/26 2
13-32931881-TGTATACGTATGGCGTTTCTAAACATTGCAT-T c.7620_7649del p.Tyr2541_Ile2550del InFrameDeletion 16/27 - 1
13-32931886-C-G c.7625C>G p.Thr2542Arg Missense 16/27 - 1
13-32931886-C-T c.7625C>T p.Thr2542Met Missense 16/27 - 1
13-32931887-G-A c.7626G>A p.Thr2542Thr Synonymous 16/27 - 1
13-32931889-A-G c.7628A>G p.Tyr2543Cys Missense 16/27 - 2
13-32931891-G-A c.7630G>A p.Gly2544Ser Missense 16/27 - 1
13-32931892-G-A c.7631G>A p.Gly2544Asp Missense 16/27 - 2
13-32931897-T-C c.7636T>C p.Ser2546Pro Missense 16/27 - 3
13-32931907-TGCATAAAAATTAACAGCAAAAATGCAGAGT-T c.7646_7675del p.Cys2549_Glu2558del InFrameDeletion 16/27 - 1
13-32931910-T-C c.7649T>C p.Ile2550Thr Missense 16/27 - 1
13-32931915-A-AA c.7654dup p.Ile2552Asnfs*2 Frameshift 16/27 - 5
13-32931916-ATTAA-A c.7655_7658del p.Ile2552Thrfs*95 Frameshift 16/27 - 3
13-32931934-GAG-G c.7673_7674del p.Glu2558Valfs*7 Frameshift 16/27 - 2
13-32931937-C-G c.7676C>G p.Ser2559Cys Missense 16/27 - 1
13-32931940-TTT-T c.7679_7680del p.Phe2560Serfs*5 Frameshift 16/27 - 2
13-32931941-T-TT c.7680dup p.Gln2561Serfs*5 Frameshift 16/27 - 3
13-32931942-C-T c.7681C>T p.Gln2561* Nonsense 16/27 - 2
13-32931943-A-C c.7682A>C p.Gln2561Pro Missense 16/27 - 2
13-32931943-A-G c.7682A>G p.Gln2561Arg Missense 16/27 - 1
13-32931945-T-C c.7684T>C p.Phe2562Leu Missense 16/27 - 2
13-32931946-T-G c.7685T>G p.Phe2562Cys Missense 16/27 - 1
13-32931948-C-A c.7687C>A p.His2563Asn Missense 16/27 - 1
13-32931958-A-AA c.7697dup p.Asp2566Glufs*5 Frameshift 16/27 - 2
13-32931959-T-G c.7698T>G p.Asp2566Glu Missense 16/27 - 1
13-32931966-G-A c.7705G>A p.Gly2569Ser Missense 16/27 - 1
13-32931968-T-TCT c.7707_7708insCT p.Lys2570Leufs*79 Frameshift 16/27 - 1
13-32931970-A-C c.7709A>C p.Lys2570Thr Missense 16/27 - 1
13-32931973-A-G c.7712A>G p.Glu2571Gly Missense 16/27 - 4
13-32931979-T-G c.7718T>G p.Leu2573* Nonsense 16/27 - 1
13-32931982-G-A c.7721G>A p.Trp2574* Nonsense 16/27 - 1
13-32931983-G-A c.7722G>A p.Trp2574* Nonsense 16/27 - 1
13-32931995-GAATACAG-G c.7734_7740del p.Ile2579Trpfs*67 Frameshift 16/27 - 1
13-32931999-C-T c.7738C>T p.Gln2580* Nonsense 16/27 - 4
13-32932003-T-G c.7742T>G p.Leu2581Trp Missense 16/27 - 1
13-32932008-G-A c.7747G>A p.Asp2583Asn Missense 16/27 - 1
13-32932009-GATGGTGGATGGCTCATACCCTCCAA-G c.7748_7772del p.Asp2583Valfs*57 Frameshift 16/27 - 1
13-32932012-G-A c.7751G>A p.Gly2584Asp Missense 16/27 - 2
13-32932014-G-A c.7753G>A p.Gly2585Arg Missense 16/27 - 8
13-32932018-G-A c.7757G>A p.Trp2586* Nonsense 16/27 - 10
13-32932020-C-T c.7759C>T p.Leu2587Phe Missense 16/27 - 4
13-32932022-TCATACCCTCCAATGATGGAAAGGCT-T c.7761_7785del p.Ile2588Glufs*52 Frameshift 16/27 - 1
13-32932023-CA-C c.7762del p.Ile2588Tyrfs*60 Frameshift 16/27 - 1
13-32932027-C-A c.7766C>A p.Pro2589His Missense 16/27 - 5
13-32932030-C-T c.7769C>T p.Ser2590Phe Missense 16/27 - 1
13-32932033-A-G c.7772A>G p.Asn2591Ser Missense 16/27 - 1
13-32932033-A-AA c.7772dup p.Asn2591Lysfs*2 Frameshift 16/27 - 1
13-32932035-TGATGGAAAGGCTGGAAAAGAAGAATTTTAT-T c.7774_7803del p.Asp2592_Tyr2601del InFrameDeletion 16/27 - 1
13-32932042-A-G c.7781A>G p.Lys2594Arg Missense 16/27 - 1
13-32932047-G-C c.7786G>C p.Gly2596Arg Missense 16/27 - 2
13-32932047-G-A c.7786G>A p.Gly2596Arg Missense 16/27 - 1
13-32932048-G-A c.7787G>A p.Gly2596Glu Missense 16/27 - 2
13-32932053-G-T c.7792G>T p.Glu2598* Nonsense 16/27 - 1
13-32932056-AGAA-A c.7795_7797del p.Glu2599del InFrameDeletion 16/27 - 2
13-32932056-G-A c.7795G>A p.Glu2599Lys Missense 16/27 - 1
13-32932063-A-G c.7802A>G p.Tyr2601Cys Missense 16/27 - 3
13-32932063-TATAG-T c.7802_7805del p.Tyr2601Trpfs*46 SpliceDonorDeletion 16/27 - 1
13-32932063-AT-GG c.7802_7803delinsGG p.Tyr2601Trp Missense 16/27 - 1
13-32932066-G-C c.7805G>C p.Arg2602Thr Missense 16/27 - 4
13-32932067-G-A c.7805+1G>A - IntronicSNV - 16/26 4
13-32932068-GTA-G c.7805+2_7805+3del - IntronicDeletion - 16/26 2
13-32932068-GT-G c.7805+2del - IntronicDeletion - 16/26 1
13-32932068-T-C c.7805+2T>C - IntronicSNV - 16/26 1
13-32932069-A-C c.7805+3A>C - IntronicSNV - 16/26 2
13-32932072-C-G c.7805+6C>G - IntronicSNV - 16/26 1
13-32936596-TAGT-T c.7806-64_7806-62del - IntronicDeletion - 16/26 1
13-32936646-T-C c.7806-14T>C - IntronicSNV - 16/26 14
13-32936651-T-G c.7806-9T>G - IntronicSNV - 16/26 2
13-32936658-A-G c.7806-2A>G - IntronicSNV - 16/26 12
13-32936659-G-A c.7806-1G>A - IntronicSNV - 16/26 2
13-32936659-G-T c.7806-1G>T - IntronicSNV - 16/26 2
13-32936660-GGGCTCTGTGTGACACTCCAGGTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATA-G c.7806_7864del p.Ala2603Serfs*3 SpliceAcceptorDeletion 17/27 - 1
13-32936660-G-GAG c.7806_7807insAG p.Ala2603Argfs*46 SpliceAcceptorInsertion 17/27 - 1
13-32936661-G-GGA c.7807_7808insGA p.Ala2603Glyfs*46 SpliceAcceptorInsertion 17/27 - 1
13-32936661-GG-G c.7807del p.Ala2603Leufs*45 Frameshift 17/27 - 1
13-32936661-G-C c.7807G>C p.Ala2603Pro Missense 17/27 - 2
13-32936661-GGCTCTGTGTGACACTCCAGGTGTGGATCCAAAGCTTATTTCTAGAATTTGGGTTTATAA-G c.7807_7865del p.Ala2603Serfs*3 Unclassified 17/27 - 5
13-32936664-C-A c.7810C>A p.Leu2604Met Missense 17/27 - 1
13-32936665-T-C c.7811T>C p.Leu2604Pro Missense 17/27 - 1
13-32936671-A-G c.7817A>G p.Asp2606Gly Missense 17/27 - 1
13-32936673-A-C c.7819A>C p.Thr2607Pro Missense 17/27 - 3
13-32936680-G-A c.7826G>A p.Gly2609Asp Missense 17/27 - 7
13-32936680-G-T c.7826G>T p.Gly2609Val Missense 17/27 - 3
13-32936682-TGTGGATC-T c.7828_7834del p.Val2610Glnfs*36 Frameshift 17/27 - 1
13-32936682-G-A c.7828G>A p.Val2610Met Missense 17/27 - 2
13-32936683-T-TT c.7829dup p.Asp2611Glyfs*7 Frameshift 17/27 - 2
13-32936686-A-G c.7832A>G p.Asp2611Gly Missense 17/27 - 3
13-32936688-C-T c.7834C>T p.Pro2612Ser Missense 17/27 - 1
13-32936693-G-C c.7839G>C p.Lys2613Asn Missense 17/27 - 1
13-32936694-C-T c.7840C>T p.Leu2614Phe Missense 17/27 - 1
13-32936700-TT-T c.7846del p.Ser2616Leufs*32 Frameshift 17/27 - 1
13-32936701-C-T c.7847C>T p.Ser2616Phe Missense 17/27 - 1
13-32936706-AATTTGGGTTTA-A c.7852_7862del p.Ile2618* Frameshift 17/27 - 1
13-32936709-T-G c.7855T>G p.Trp2619Gly Missense 17/27 - 1
13-32936711-G-A c.7857G>A p.Trp2619* Nonsense 17/27 - 1
13-32936711-G-C c.7857G>C p.Trp2619Cys Missense 17/27 - 2
13-32936713-T-C c.7859T>C p.Val2620Ala Missense 17/27 - 1
13-32936719-A-AA c.7865dup p.Asn2622Lysfs*4 Frameshift 17/27 - 1
13-32936719-A-G c.7865A>G p.Asn2622Ser Missense 17/27 - 1
13-32936721-C-T c.7867C>T p.His2623Tyr Missense 17/27 - 1
13-32936722-A-G c.7868A>G p.His2623Arg Missense 17/27 - 3
13-32936724-T-C c.7870T>C p.Tyr2624His Missense 17/27 - 1
13-32936724-T-A c.7870T>A p.Tyr2624Asn Missense 17/27 - 1
13-32936724-T-G c.7870T>G p.Tyr2624Asp Missense 17/27 - 1
13-32936725-A-G c.7871A>G p.Tyr2624Cys Missense 17/27 - 1
13-32936727-TAGA-T c.7873_7875del p.Arg2625del InFrameDeletion 17/27 - 2
13-32936729-A-G c.7875A>G p.Arg2625Arg Synonymous 17/27 - 2
13-32936729-A-T c.7875A>T p.Arg2625Ser Missense 17/27 - 1
13-32936730-T-C c.7876T>C p.Trp2626Arg Missense 17/27 - 1
13-32936732-G-A c.7878G>A p.Trp2626* Nonsense 17/27 - 6
13-32936732-G-C c.7878G>C p.Trp2626Cys Missense 17/27 - 28
13-32936733-A-T c.7879A>T p.Ile2627Phe Missense 17/27 - 21
13-32936733-A-G c.7879A>G p.Ile2627Val Missense 17/27 - 1
13-32936738-A-AA c.7884dup p.Trp2629Metfs*12 Frameshift 17/27 - 1
13-32936742-AA-GC c.7888_7889delinsGC p.Lys2630Ala Missense 17/27 - 1
13-32936742-AAA-GAC c.7888_7890delinsGAC p.Lys2630Asp Missense 17/27 - 1
13-32936742-A-C c.7888A>C p.Lys2630Gln Missense 17/27 - 2
13-32936744-A-AA c.7890dup p.Leu2631Thrfs*10 Frameshift 17/27 - 3
13-32936749-C-G c.7895C>G p.Ala2632Gly Missense 17/27 - 1
13-32936754-TA-T c.7900del p.Met2634Trpfs*14 Frameshift 17/27 - 1
13-32936755-T-C c.7901T>C p.Met2634Thr Missense 17/27 - 1
13-32936756-G-A c.7902G>A p.Met2634Ile Missense 17/27 - 1
13-32936758-A-G c.7904A>G p.Glu2635Gly Missense 17/27 - 1
13-32936765-CC-C c.7911del p.Pro2639Leufs*9 Frameshift 17/27 - 2
13-32936765-CCTT-C c.7911_7913del p.Phe2638del InFrameDeletion 17/27 - 1
13-32936767-TTTCCT-T c.7913_7917del p.Phe2638* Frameshift 17/27 - 14
13-32936769-C-G c.7915C>G p.Pro2639Ala Missense 17/27 - 1
13-32936770-C-T c.7916C>T p.Pro2639Leu Missense 17/27 - 1
13-32936775-G-A c.7921G>A p.Glu2641Lys Missense 17/27 - 1
13-32936779-T-G c.7925T>G p.Phe2642Cys Missense 17/27 - 1
13-32936779-T-C c.7925T>C p.Phe2642Ser Missense 17/27 - 2
13-32936782-C-G c.7928C>G p.Ala2643Gly Missense 17/27 - 5
13-32936782-C-T c.7928C>T p.Ala2643Val Missense 17/27 - 1
13-32936784-A-G c.7930A>G p.Asn2644Asp Missense 17/27 - 1
13-32936785-A-G c.7931A>G p.Asn2644Ser Missense 17/27 - 1
13-32936787-A-G c.7933A>G p.Arg2645Gly Missense 17/27 - 1
13-32936788-AG-A c.7934del p.Arg2645Asnfs*3 Frameshift 17/27 - 9
13-32936793-C-G c.7939C>G p.Leu2647Val Missense 17/27 - 1
13-32936794-T-C c.7940T>C p.Leu2647Pro Missense 17/27 - 9
13-32936795-A-C c.7941A>C p.Leu2647Leu Synonymous 17/27 - 2
13-32936798-GCCCAGAAAGG-G c.7944_7953del p.Ser2648Argfs*6 Frameshift 17/27 - 1
13-32936798-C-T c.7944C>T p.Ser2648Ser Synonymous 17/27 - 1
13-32936799-CCCAGAAAGGGTGCTTCTTCAACTAAAATAC-C c.7945_7974del p.Pro2649_Tyr2658del InFrameDeletion 17/27 - 1
13-32936808-GGTGCTTCTTC-G c.7954_7963del p.Val2652Asnfs*2 Frameshift 17/27 - 1
13-32936808-G-A c.7954G>A p.Val2652Met Missense 17/27 - 2
13-32936808-GG-G c.7954del p.Val2652Cysfs*5 Frameshift 17/27 - 1
13-32936810-G-C c.7956G>C p.Val2652Val Synonymous 17/27 - 1
13-32936810-G-A c.7956G>A p.Val2652Val Synonymous 17/27 - 1
13-32936810-G-T c.7956G>T p.Val2652Val Synonymous 17/27 - 1
13-32936812-T-C c.7958T>C p.Leu2653Pro Missense 17/27 - 17
13-32936812-T-G c.7958T>G p.Leu2653Arg Missense 17/27 - 1
13-32936814-C-G c.7960C>G p.Leu2654Val Missense 17/27 - 1
13-32936814-C-T c.7960C>T p.Leu2654Phe Missense 17/27 - 1
13-32936815-T-C c.7961T>C p.Leu2654Pro Missense 17/27 - 3
13-32936817-C-T c.7963C>T p.Gln2655* Nonsense 17/27 - 1
13-32936818-CAACTAAAATA-C c.7964_7973del p.Gln2655Profs*15 Frameshift 17/27 - 1
13-32936818-A-G c.7964A>G p.Gln2655Arg Missense 17/27 - 4
13-32936820-C-T c.7966C>T p.Leu2656Leu Synonymous 17/27 - 1
13-32936821-T-C c.7967T>C p.Leu2656Pro Missense 17/27 - 1
13-32936824-A-C c.7970A>C p.Lys2657Thr Missense 17/27 - 1
13-32936825-A-AA c.7971dup p.Tyr2658Ilefs*4 Frameshift 17/27 - 1
13-32936826-T-C c.7972T>C p.Tyr2658His Missense 17/27 - 1
13-32936828-C-G c.7974C>G p.Tyr2658* Nonsense 17/27 - 1
13-32936829-A-G c.7975A>G p.Arg2659Gly Missense 17/27 - 11
13-32936830-G-C c.7976G>C p.Arg2659Thr Missense 17/27 - 5
13-32936830-G-A c.7976G>A p.Arg2659Lys Missense 17/27 - 15
13-32936831-G-A c.7976+1G>A - IntronicSNV - 17/26 4
13-32936832-C-T c.7976+2C>T - IntronicSNV - 17/26 1
13-32936832-C-A c.7976+2C>A - IntronicSNV - 17/26 1
13-32936834-AA-A c.7976+4del - IntronicDeletion - 17/26 1
13-32936835-G-T c.7976+5G>T - IntronicSNV - 17/26 1
13-32936851-TTACGTAATCATATACGGCAGTATGGTTAAGGTTTCTGTGTAGTCTGTGACTTCCATGTC-T c.7976+21_7976+79del - IntronicDeletion - 17/26 1
13-32936966-CCTGTCATCCCTAGCCCCCATTTAAGAGAGATCACACATTCATGCATTGCTTGCTTCCCT-C c.7976+138_7976+196del - IntronicDeletion - 17/26 1
13-32937061-AGAAGAATATGAGTTACTAATTTGATCCACTATTTGGGGATTGCTAATAAAGCATTTTTG-A c.7976+231_7977-197del - IntronicDeletion - 17/26 1
13-32937166-TGAAACAATATATTCCTAGCTACAAAATTTTTAATTCTCAGTATTTCTTAGATAAATTCA-T c.7977-149_7977-91del - IntronicDeletion - 17/26 1
13-32937306-T-TT c.7977-10dup - IntronicInsertion - 17/26 1
13-32937309-C-G c.7977-7C>G - IntronicSNV - 17/26 3
13-32937310-T-G c.7977-6T>G - IntronicSNV - 17/26 2
13-32937314-A-G c.7977-2A>G - IntronicSNV - 17/26 1
13-32937314-A-T c.7977-2A>T - IntronicSNV - 17/26 3
13-32937315-G-T c.7977-1G>T - IntronicSNV - 17/26 3
13-32937315-G-C c.7977-1G>C - IntronicSNV - 17/26 10
13-32937316-GATATGATACGGAAATTGATAGAAGCAGAAGATCGGCTATAAAAAAGATAATGGAAAGGG-G c.7979_8037del p.Tyr2660* SpliceAcceptorDeletion 18/27 - 1
13-32937317-T-G c.7978T>G p.Tyr2660Asp Missense 18/27 - 8
13-32937318-TATGATACGGAAATTGATAGAAGCAGAAGAT-T c.7979_8008del p.Tyr2660_Arg2669del InFrameDeletion 18/27 - 1
13-32937319-ATGATACGGAA-A c.7980_7989del p.Tyr2660* Frameshift 18/27 - 1
13-32937323-A-T c.7984A>T p.Thr2662Ser Missense 18/27 - 1
13-32937324-C-G c.7985C>G p.Thr2662Arg Missense 18/27 - 2
13-32937324-C-A c.7985C>A p.Thr2662Lys Missense 18/27 - 1
13-32937324-C-T c.7985C>T p.Thr2662Met Missense 18/27 - 1
13-32937325-G-A c.7986G>A p.Thr2662Thr Synonymous 18/27 - 1
13-32937326-GG-G c.7987del p.Glu2663Lysfs*10 Frameshift 18/27 - 2
13-32937326-G-A c.7987G>A p.Glu2663Lys Missense 18/27 - 4
13-32937326-G-T c.7987G>T p.Glu2663* Nonsense 18/27 - 1
13-32937327-A-G c.7988A>G p.Glu2663Gly Missense 18/27 - 1
13-32937327-A-T c.7988A>T p.Glu2663Val Missense 18/27 - 14
13-32937331-T-A c.7992T>A p.Ile2664Ile Synonymous 18/27 - 6
13-32937333-A-G c.7994A>G p.Asp2665Gly Missense 18/27 - 15
13-32937336-G-C c.7997G>C p.Arg2666Thr Missense 18/27 - 1
13-32937338-AA-A c.7999del p.Ser2667Alafs*6 Frameshift 18/27 - 1
13-32937338-AAGCAGAAGAT-A c.7999_8008del p.Ser2667Argfs*3 Frameshift 18/27 - 1
13-32937340-C-T c.8001C>T p.Ser2667Ser Synonymous 18/27 - 1
13-32937341-A-T c.8002A>T p.Arg2668* Nonsense 18/27 - 1
13-32937342-G-A c.8003G>A p.Arg2668Lys Missense 18/27 - 1
13-32937343-GAAGATCGGCTATAAAAAAGATAATGGAAAG-G c.8004_8033del p.Arg2669_Arg2678del InFrameDeletion 18/27 - 1
13-32937344-AAGATCGGCTA-A c.8005_8014del p.Arg2669* Frameshift 18/27 - 1
13-32937346-A-G c.8007A>G p.Arg2669Arg Synonymous 18/27 - 2
13-32937348-TC-T c.8009del p.Ser2670Trpfs*3 Frameshift 18/27 - 1
13-32937348-C-T c.8009C>T p.Ser2670Leu Missense 18/27 - 14
13-32937348-C-A c.8009C>A p.Ser2670* Nonsense 18/27 - 3
13-32937348-C-G c.8009C>G p.Ser2670Trp Missense 18/27 - 2
13-32937349-G-A c.8010G>A p.Ser2670Ser Synonymous 18/27 - 1
13-32937350-G-T c.8011G>T p.Ala2671Ser Missense 18/27 - 1
13-32937353-A-G c.8014A>G p.Ile2672Val Missense 18/27 - 1
13-32937353-TATAAAAAAGA-T c.8014_8023del p.Ile2672* Frameshift 18/27 - 1
13-32937354-T-C c.8015T>C p.Ile2672Thr Missense 18/27 - 1
13-32937355-A-AT c.8016_8017insT p.Lys2673* Nonsense 18/27 - 1
13-32937359-A-ATA c.8020_8021insTA p.Lys2674Ilefs*3 Frameshift 18/27 - 1
13-32937360-AA-A c.8021del p.Lys2674Argfs*2 Frameshift 18/27 - 1
13-32937360-A-AA c.8021dup p.Ile2675Aspfs*6 Frameshift 18/27 - 2
13-32937361-AGATAATGGA-A c.8022_8030del p.Ile2675_Glu2677del InFrameDeletion 18/27 - 1
13-32937361-G-A c.8022G>A p.Lys2674Lys Synonymous 18/27 - 1
13-32937362-AT-TA c.8023_8024delinsTA p.Ile2675* Nonsense 18/27 - 1
13-32937362-A-G c.8023A>G p.Ile2675Val Missense 18/27 - 16
13-32937363-ATAATGGAAAG-A c.8024_8033del p.Ile2675Argfs*16 Frameshift 18/27 - 1
13-32937365-A-T c.8026A>T p.Met2676Leu Missense 18/27 - 1
13-32937366-T-C c.8027T>C p.Met2676Thr Missense 18/27 - 6
13-32937371-A-G c.8032A>G p.Arg2678Gly Missense 18/27 - 2
13-32937374-G-T c.8035G>T p.Asp2679Tyr Missense 18/27 - 5
13-32937375-A-G c.8036A>G p.Asp2679Gly Missense 18/27 - 4
13-32937376-T-TT c.8037dup p.Asp2680* Nonsense 18/27 - 1
13-32937377-G-A c.8038G>A p.Asp2680Asn Missense 18/27 - 1
13-32937378-A-G c.8039A>G p.Asp2680Gly Missense 18/27 - 2
13-32937381-C-G c.8042C>G p.Thr2681Arg Missense 18/27 - 2
13-32937381-ACA-A c.8042_8043del p.Thr2681Serfs*11 Frameshift 18/27 - 4
13-32937392-AA-A c.8053del p.Thr2685Hisfs*9 Frameshift 18/27 - 1
13-32937395-CTT-GAG c.8056_8058delinsGAG p.Leu2686Glu Missense 18/27 - 1
13-32937396-T-C c.8057T>C p.Leu2686Pro Missense 18/27 - 4
13-32937398-G-T c.8059G>T p.Val2687Phe Missense 18/27 - 1
13-32937402-T-C c.8063T>C p.Leu2688Pro Missense 18/27 - 8
13-32937406-T-A c.8067T>A p.Cys2689* Nonsense 18/27 - 4
13-32937407-G-T c.8068G>T p.Val2690Phe Missense 18/27 - 1
13-32937407-TGT-T c.8068_8069del p.Val2690Phefs*2 Frameshift 18/27 - 3
13-32937411-C-T c.8072C>T p.Ser2691Phe Missense 18/27 - 4
13-32937423-C-T c.8084C>T p.Ser2695Leu Missense 18/27 - 2
13-32937429-AGCGCAAATATATCTGAAACTTCTAGC-A c.8090_8115del p.Ser2697Lysfs*2 Frameshift 18/27 - 1
13-32937429-AGCGCAAATATATCTGA-A c.8090_8105del p.Ser2697Lysfs*31 Frameshift 18/27 - 1
13-32937431-G-A c.8092G>A p.Ala2698Thr Missense 18/27 - 1
13-32937450-C-T c.8111C>T p.Ser2704Phe Missense 18/27 - 4
13-32937456-A-G c.8117A>G p.Asn2706Ser Missense 18/27 - 4
13-32937464-A-AA c.8125dup p.Ser2709Lysfs*2 Frameshift 18/27 - 1
13-32937469-GT-G c.8130del p.Ser2710Argfs*23 Frameshift 18/27 - 1
13-32937473-G-A c.8134G>A p.Asp2712Asn Missense 18/27 - 1
13-32937476-A-G c.8137A>G p.Thr2713Ala Missense 18/27 - 1
13-32937479-C-T c.8140C>T p.Gln2714* Nonsense 18/27 - 1
13-32937480-CAAAAA-C c.8141_8145del p.Gln2714Argfs*5 Frameshift 18/27 - 1
13-32937488-G-T c.8149G>T p.Ala2717Ser Missense 18/27 - 17
13-32937489-C-T c.8150C>T p.Ala2717Val Missense 18/27 - 1
13-32937501-T-A c.8162T>A p.Leu2721His Missense 18/27 - 5
13-32937501-T-C c.8162T>C p.Leu2721Pro Missense 18/27 - 1
13-32937503-A-AA c.8164dup p.Thr2722Asnfs*8 Frameshift 18/27 - 1
13-32937504-C-G c.8165C>G p.Thr2722Arg Missense 18/27 - 18
13-32937506-G-A c.8167G>A p.Asp2723Asn Missense 18/27 - 1
13-32937506-G-C c.8167G>C p.Asp2723His Missense 18/27 - 48
13-32937507-A-G c.8168A>G p.Asp2723Gly Missense 18/27 - 25
13-32937507-A-T c.8168A>T p.Asp2723Val Missense 18/27 - 3
13-32937507-A-C c.8168A>C p.Asp2723Ala Missense 18/27 - 5
13-32937510-G-C c.8171G>C p.Gly2724Ala Missense 18/27 - 2
13-32937510-G-T c.8171G>T p.Gly2724Val Missense 18/27 - 1
13-32937511-GG-G c.8172del p.Trp2725Glyfs*8 Frameshift 18/27 - 1
13-32937512-TG-GC c.8173_8174delinsGC p.Trp2725Ala Missense 18/27 - 1
13-32937513-G-A c.8174G>A p.Trp2725* Nonsense 18/27 - 2
13-32937513-G-T c.8174G>T p.Trp2725Leu Missense 18/27 - 2
13-32937514-G-A c.8175G>A p.Trp2725* Nonsense 18/27 - 2
13-32937516-A-G c.8177A>G p.Tyr2726Cys Missense 18/27 - 6
13-32937521-GT-CA c.8182_8183delinsCA p.Val2728His Missense 18/27 - 1
13-32937521-G-A c.8182G>A p.Val2728Ile Missense 18/27 - 17
13-32937521-G-C c.8182G>C p.Val2728Leu Missense 18/27 - 1
13-32937522-T-C c.8183T>C p.Val2728Ala Missense 18/27 - 2
13-32937526-G-T c.8187G>T p.Lys2729Asn Missense 18/27 - 34
13-32937527-G-C c.8188G>C p.Ala2730Pro Missense 18/27 - 3
13-32937528-C-T c.8189C>T p.Ala2730Val Missense 18/27 - 2
13-32937534-T-G c.8195T>G p.Leu2732* Nonsense 18/27 - 5
13-32937537-A-T c.8198A>T p.Asp2733Val Missense 18/27 - 1
13-32937545-CC-C c.8206del p.Leu2736Serfs*2 Frameshift 18/27 - 1
13-32937546-CT-C c.8207del p.Leu2736Profs*2 Frameshift 18/27 - 1
13-32937554-G-A c.8215G>A p.Val2739Ile Missense 18/27 - 1
13-32937557-CTTAAA-C c.8218_8222del p.Leu2740Glufs*22 Frameshift 18/27 - 1
13-32937558-T-G c.8219T>G p.Leu2740* Nonsense 18/27 - 2
13-32937558-T-A c.8219T>A p.Leu2740* Nonsense 18/27 - 3
13-32937561-A-AA c.8222dup p.Asn2742Glufs*22 Frameshift 18/27 - 1
13-32937568-GCAGACTGACAGTTGG-G c.8229_8243del p.Arg2744_Gly2748del InFrameDeletion 18/27 - 1
13-32937573-T-TT c.8234dup p.Thr2746Aspfs*18 Frameshift 18/27 - 2
13-32937582-G-A c.8243G>A p.Gly2748Asp Missense 18/27 - 15
13-32937584-C-T c.8245C>T p.Gln2749* Nonsense 18/27 - 2
13-32937586-AGA-A c.8247_8248del p.Lys2750Aspfs*13 Frameshift 18/27 - 2
13-32937588-AAGA-A c.8249_8251del p.Lys2750del InFrameDeletion 18/27 - 2
13-32937589-AGA-A c.8250_8251del p.Lys2750Asnfs*13 Frameshift 18/27 - 2
13-32937593-A-T c.8254A>T p.Ile2752Phe Missense 18/27 - 1
13-32937597-T-C c.8258T>C p.Leu2753Pro Missense 18/27 - 2
13-32937597-CTTC-C c.8258_8260del p.Leu2753del InFrameDeletion 18/27 - 2
13-32937601-T-G c.8262T>G p.His2754Gln Missense 18/27 - 2
13-32937605-AGCAGA-A c.8266_8270del p.Ala2756Thrfs*6 Frameshift 18/27 - 1
13-32937606-C-G c.8267C>G p.Ala2756Gly Missense 18/27 - 1
13-32937609-A-T c.8270A>T p.Glu2757Val Missense 18/27 - 1
13-32937618-G-T c.8279G>T p.Gly2760Val Missense 18/27 - 1
13-32937635-A-G c.8296A>G p.Thr2766Ala Missense 18/27 - 1
13-32937636-C-T c.8297C>T p.Thr2766Ile Missense 18/27 - 2
13-32937636-AC-A c.8297del p.Thr2766Asnfs*11 Frameshift 18/27 - 13
13-32937637-CA-C c.8298del p.Pro2767Leufs*10 Frameshift 18/27 - 1
13-32937638-C-T c.8299C>T p.Pro2767Ser Missense 18/27 - 3
13-32937642-T-A c.8303T>A p.Leu2768His Missense 18/27 - 1
13-32937644-G-T c.8305G>T p.Glu2769* Nonsense 18/27 - 1
13-32937647-G-A c.8308G>A p.Ala2770Thr Missense 18/27 - 5
13-32937648-C-A c.8309C>A p.Ala2770Asp Missense 18/27 - 1
13-32937653-G-A c.8314G>A p.Glu2772Lys Missense 18/27 - 2
13-32937653-G-T c.8314G>T p.Glu2772* Nonsense 18/27 - 1
13-32937659-C-G c.8320C>G p.Leu2774Val Missense 18/27 - 1
13-32937661-T-TT c.8322dup p.Met2775Tyrfs*7 Frameshift 18/27 - 1
13-32937662-A-AA c.8323dup p.Met2775Asnfs*7 Frameshift 18/27 - 1
13-32937663-T-G c.8324T>G p.Met2775Arg Missense 18/27 - 2
13-32937666-T-G c.8327T>G p.Leu2776* Nonsense 18/27 - 3
13-32937668-AAAG-A c.8329_8331del p.Lys2777del InFrameDeletion 18/27 - 1
13-32937670-G-A c.8331G>A p.Lys2777Lys Synonymous 18/27 - 2
13-32937671-G-A c.8331+1G>A - IntronicSNV - 18/26 4
13-32937671-G-T c.8331+1G>T - IntronicSNV - 18/26 6
13-32937672-T-C c.8331+2T>C - IntronicSNV - 18/26 5
13-32938881-A-G c.8331+1211A>G - IntronicSNV - 18/26 1
13-32938881-A-C c.8331+1211A>C - IntronicSNV - 18/26 1
13-32939286-T-A c.8331+1616T>A - IntronicSNV - 18/26 1
13-32939286-T-G c.8331+1616T>G - IntronicSNV - 18/26 1
13-32940345-C-A c.8331+2675C>A - IntronicSNV - 18/26 9
13-32943734-G-A c.8332-805G>A - IntronicSNV - 18/26 1
13-32944056-G-C c.8332-483G>C - IntronicSNV - 18/26 2
13-32944056-G-T c.8332-483G>T - IntronicSNV - 18/26 2
13-32944539-GATTTCTGCTAACAGTACTCGGCCTGCTCGCTGGTATACCAAACTTGGATTCTTTCCTGA-G c.8332_8390del p.Ile2778Profs*2 InFrameDeletion 19/27 - 3
13-32944541-TTTCTGCTAACAGTACTCGGCCTGCTCGCTG-T c.8334_8363del p.Ile2778_Trp2788delinsMet MultiAAMissense 19/27 - 1
13-32944545-GC-CG c.8338_8339delinsCG p.Ala2780Arg Missense 19/27 - 1
13-32944545-G-T c.8338G>T p.Ala2780Ser Missense 19/27 - 5
13-32944547-T-C c.8340T>C p.Ala2780Ala Synonymous 19/27 - 1
13-32944547-T-G c.8340T>G p.Ala2780Ala Synonymous 19/27 - 1
13-32944547-T-A c.8340T>A p.Ala2780Ala Synonymous 19/27 - 1
13-32944549-A-G c.8342A>G p.Asn2781Ser Missense 19/27 - 1
13-32944549-A-T c.8342A>T p.Asn2781Ile Missense 19/27 - 3
13-32944552-G-A c.8345G>A p.Ser2782Asn Missense 19/27 - 1
13-32944554-A-C c.8347A>C p.Thr2783Pro Missense 19/27 - 1
13-32944557-C-G c.8350C>G p.Arg2784Gly Missense 19/27 - 1
13-32944557-C-T c.8350C>T p.Arg2784Trp Missense 19/27 - 7
13-32944558-G-A c.8351G>A p.Arg2784Gln Missense 19/27 - 14
13-32944563-G-A c.8356G>A p.Ala2786Thr Missense 19/27 - 2
13-32944563-G-C c.8356G>C p.Ala2786Pro Missense 19/27 - 2
13-32944566-TCGCTGGTATACCAAACTTGGATTCTTTCCT-T c.8359_8388del p.Arg2787_Pro2796del InFrameDeletion 19/27 - 1
13-32944566-C-T c.8359C>T p.Arg2787Cys Missense 19/27 - 1
13-32944567-G-T c.8360G>T p.Arg2787Leu Missense 19/27 - 1
13-32944567-G-A c.8360G>A p.Arg2787His Missense 19/27 - 5
13-32944569-T-C c.8362T>C p.Trp2788Arg Missense 19/27 - 2
13-32944570-G-A c.8363G>A p.Trp2788* Nonsense 19/27 - 7
13-32944570-G-C c.8363G>C p.Trp2788Ser Missense 19/27 - 2
13-32944571-G-A c.8364G>A p.Trp2788* Nonsense 19/27 - 7
13-32944573-A-G c.8366A>G p.Tyr2789Cys Missense 19/27 - 1
13-32944574-T-G c.8367T>G p.Tyr2789* Nonsense 19/27 - 1
13-32944574-T-A c.8367T>A p.Tyr2789* Nonsense 19/27 - 1
13-32944581-ACTTGGATTCTT-A c.8374_8384del p.Leu2792Serfs*2 Frameshift 19/27 - 1
13-32944582-T-C c.8375T>C p.Leu2792Pro Missense 19/27 - 4
13-32944584-G-A c.8377G>A p.Gly2793Arg Missense 19/27 - 11
13-32944585-G-A c.8378G>A p.Gly2793Glu Missense 19/27 - 6
13-32944593-C-T c.8386C>T p.Pro2796Ser Missense 19/27 - 2
13-32944600-C-G c.8393C>G p.Pro2798Arg Missense 19/27 - 1
13-32944603-G-GG c.8396dup p.Pro2800Thrfs*12 Frameshift 19/27 - 1
13-32944605-C-T c.8398C>T p.Pro2800Ser Missense 19/27 - 3
13-32944606-C-G c.8399C>G p.Pro2800Arg Missense 19/27 - 3
13-32944607-CTTTT-C c.8400_8403del p.Phe2801Leufs*19 Frameshift 19/27 - 1
13-32944607-TTT-AAA c.8400_8402inv p.Phe2801Asn Missense 19/27 - 1
13-32944607-TTT-AAAA c.8400_8402delinsAAAA p.Phe2801Lysfs*11 Frameshift 19/27 - 3
13-32944608-TTTT-T c.8401_8403del p.Phe2801del InFrameDeletion 19/27 - 1
13-32944609-TTT-T c.8402_8403del p.Phe2801Serfs*10 Frameshift 19/27 - 1
13-32944609-T-TAAAA c.8402_8403insAAAA p.Phe2801Leufs*12 Frameshift 19/27 - 1
13-32944624-C-T c.8417C>T p.Ser2806Leu Missense 19/27 - 1
13-32944627-C-T c.8420C>T p.Ser2807Leu Missense 19/27 - 4
13-32944629-C-G c.8422C>G p.Leu2808Val Missense 19/27 - 1
13-32944630-T-G c.8423T>G p.Leu2808Arg Missense 19/27 - 1
13-32944642-G-A c.8435G>A p.Gly2812Glu Missense 19/27 - 4
13-32944644-AGGA-A c.8437_8439del p.Gly2813del InFrameDeletion 19/27 - 1
13-32944645-G-A c.8438G>A p.Gly2813Glu Missense 19/27 - 3
13-32944654-G-A c.8447G>A p.Gly2816Asp Missense 19/27 - 1
13-32944659-G-A c.8452G>A p.Val2818Ile Missense 19/27 - 1
13-32944663-A-T c.8456A>T p.Asp2819Val Missense 19/27 - 1
13-32944667-A-C c.8460A>C p.Val2820Val Synonymous 19/27 - 4
13-32944669-T-C c.8462T>C p.Ile2821Thr Missense 19/27 - 1
13-32944670-T-TT c.8463dup p.Ile2822Tyrfs*23 Frameshift 19/27 - 1
13-32944671-A-T c.8464A>T p.Ile2822Phe Missense 19/27 - 1
13-32944677-A-G c.8470A>G p.Arg2824Gly Missense 19/27 - 1
13-32944678-G-C c.8471G>C p.Arg2824Thr Missense 19/27 - 1
13-32944685-C-A c.8478C>A p.Tyr2826* Nonsense 19/27 - 1
13-32944687-CC-C c.8480del p.Pro2827Leufs*36 Frameshift 19/27 - 1
13-32944689-A-G c.8482A>G p.Ile2828Val Missense 19/27 - 1
13-32944691-A-T c.8484A>T p.Ile2828Ile Synonymous 19/27 - 1
13-32944692-C-T c.8485C>T p.Gln2829* Nonsense 19/27 - 4
13-32944692-C-CC c.8485dup p.Gln2829Profs*16 SpliceDonorInsertion 19/27 - 1
13-32944692-ACAG-A c.8485_8487del p.Gln2829del InFrameDeletion 19/27 - 2
13-32944693-A-C c.8486A>C p.Gln2829Pro Missense 19/27 - 2
13-32944693-A-T c.8486A>T p.Gln2829Leu Missense 19/27 - 3
13-32944693-A-G c.8486A>G p.Gln2829Arg Missense 19/27 - 3
13-32944694-G-A c.8487G>A p.Gln2829Gln Synonymous 19/27 - 1
13-32944695-G-A c.8487+1G>A - IntronicSNV - 19/26 5
13-32944697-A-G c.8487+3A>G - IntronicSNV - 19/26 2
13-32944702-G-A c.8487+8G>A - IntronicSNV - 19/26 1
13-32944709-T-C c.8487+15T>C - IntronicSNV - 19/26 1
13-32944713-A-G c.8487+19A>G - IntronicSNV - 19/26 1
13-32944725-ATTTCTTTCTTTT-A c.8487+31_8487+42del - IntronicDeletion - 19/26 1
13-32944741-C-A c.8487+47C>A - IntronicSNV - 19/26 1
13-32944741-C-T c.8487+47C>T - IntronicSNV - 19/26 1
13-32944741-C-G c.8487+47C>G - IntronicSNV - 19/26 1
13-32945045-TGAATGT-T c.8488-48_8488-43del - IntronicDeletion - 19/26 1
13-32945084-T-G c.8488-9T>G - IntronicSNV - 19/26 1
13-32945088-T-C c.8488-5T>C - IntronicSNV - 19/26 1
13-32945091-A-G c.8488-2A>G - IntronicSNV - 19/26 1
13-32945092-G-T c.8488-1G>T - IntronicSNV - 19/26 1
13-32945092-G-A c.8488-1G>A - IntronicSNV - 19/26 13
13-32945093-GTGGATGGAGAAG-G c.8488_8499del p.Trp2830_Lys2833del InFrameDeletion 20/27 - 1
13-32945094-TGG-T c.8489_8490del p.Trp2830Tyrfs*14 SpliceAcceptorDeletion 20/27 - 1
13-32945094-G-A c.8489G>A p.Trp2830* Nonsense 20/27 - 2
13-32945095-GGATGGAGAAGACATCATCTGGATTATACAT-G c.8490_8519del p.Trp2830_Ile2840delins* MultiAAMissense 20/27 - 1
13-32945103-AAGA-A c.8498_8500del p.Lys2833del InFrameDeletion 20/27 - 2
13-32945108-T-C c.8503T>C p.Ser2835Pro Missense 20/27 - 7
13-32945109-C-A c.8504C>A p.Ser2835* Nonsense 20/27 - 7
13-32945109-C-G c.8504C>G p.Ser2835* Nonsense 20/27 - 5
13-32945115-G-A c.8510G>A p.Gly2837Glu Missense 20/27 - 1
13-32945117-T-A c.8512T>A p.Leu2838Ile Missense 20/27 - 1
13-32945122-C-A c.8517C>A p.Tyr2839* Nonsense 20/27 - 4
13-32945123-A-G c.8518A>G p.Ile2840Val Missense 20/27 - 1
13-32945123-CA-C c.8518del p.Ile2840Tyrfs*23 Frameshift 20/27 - 1
13-32945129-C-T c.8524C>T p.Arg2842Cys Missense 20/27 - 6
13-32945130-G-T c.8525G>T p.Arg2842Leu Missense 20/27 - 4
13-32945130-G-A c.8525G>A p.Arg2842His Missense 20/27 - 7
13-32945130-G-C c.8525G>C p.Arg2842Pro Missense 20/27 - 1
13-32945134-T-TT c.8529dup p.Glu2844* Nonsense 20/27 - 2
13-32945135-G-T c.8530G>T p.Glu2844* Nonsense 20/27 - 1
13-32945137-AAA-A c.8532_8533del p.Glu2846Glyfs*22 Frameshift 20/27 - 2
13-32945140-GAGAG-G c.8535_8538del p.Glu2846Lysfs*16 Frameshift 20/27 - 1
13-32945142-GAG-G c.8537_8538del p.Glu2846Glyfs*22 Frameshift 20/27 - 15
13-32945144-G-A c.8539G>A p.Glu2847Lys Missense 20/27 - 1
13-32945150-AAA-A c.8545_8546del p.Lys2849Glyfs*19 Frameshift 20/27 - 1
13-32945150-A-G c.8545A>G p.Lys2849Glu Missense 20/27 - 1
13-32945153-GGAAG-G c.8548_8551del p.Glu2850Glnfs*12 Frameshift 20/27 - 1
13-32945153-G-A c.8548G>A p.Glu2850Lys Missense 20/27 - 1
13-32945157-C-T c.8552C>T p.Ala2851Val Missense 20/27 - 2
13-32945160-C-T c.8555C>T p.Ala2852Val Missense 20/27 - 1
13-32945165-AT-A c.8560del p.Tyr2854Metfs*9 Frameshift 20/27 - 1
13-32945172-A-G c.8567A>G p.Glu2856Gly Missense 20/27 - 1
13-32945172-A-C c.8567A>C p.Glu2856Ala Missense 20/27 - 20
13-32945177-CC-C c.8572del p.Gln2858Asnfs*5 Frameshift 20/27 - 1
13-32945177-C-T c.8572C>T p.Gln2858* Nonsense 20/27 - 1
13-32945178-A-G c.8573A>G p.Gln2858Arg Missense 20/27 - 4
13-32945179-A-T c.8574A>T p.Gln2858His Missense 20/27 - 2
13-32945179-A-AA c.8574dup p.Gln2859Thrfs*10 Frameshift 20/27 - 1
13-32945180-AC-A c.8575del p.Gln2859Lysfs*4 Frameshift 20/27 - 7
13-32945180-C-T c.8575C>T p.Gln2859* Nonsense 20/27 - 4
13-32945180-ACAAAAGAGACTAGAAGCCTTATTCACTAAA-A c.8575_8604del p.Gln2859_Lys2868del InFrameDeletion 20/27 - 1
13-32945184-A-C c.8579A>C p.Lys2860Thr Missense 20/27 - 2
13-32945184-AA-A c.8579del p.Lys2860Argfs*3 Frameshift 20/27 - 1
13-32945190-T-TT c.8585dup p.Glu2863Argfs*6 Frameshift 20/27 - 1
13-32945190-T-C c.8585T>C p.Leu2862Pro Missense 20/27 - 1
13-32945194-A-AA c.8589dup p.Ala2864Serfs*5 Frameshift 20/27 - 2
13-32945198-T-G c.8593T>G p.Leu2865Val Missense 20/27 - 4
13-32945199-T-A c.8594T>A p.Leu2865* Nonsense 20/27 - 1
13-32945200-A-C c.8595A>C p.Leu2865Phe Missense 20/27 - 1
13-32945200-A-T c.8595A>T p.Leu2865Phe Missense 20/27 - 1
13-32945204-A-C c.8599A>C p.Thr2867Pro Missense 20/27 - 1
13-32945219-G-T c.8614G>T p.Glu2872* Nonsense 20/27 - 1
13-32945223-T-G c.8618T>G p.Phe2873Cys Missense 20/27 - 1
13-32945228-G-T c.8623G>T p.Glu2875* Nonsense 20/27 - 1
13-32945234-G-T c.8629G>T p.Glu2877* Nonsense 20/27 - 2
13-32945235-A-G c.8630A>G p.Glu2877Gly Missense 20/27 - 1
13-32945238-G-A c.8632+1G>A - IntronicSNV - 20/26 5
13-32945242-A-G c.8632+5A>G - IntronicSNV - 20/26 1
13-32945932-C-T c.8632+695C>T - IntronicSNV - 20/26 1
13-32950791-C-G c.8633-16C>G - IntronicSNV - 20/26 1
13-32950807-A-G c.8633A>G p.Glu2878Gly Missense 21/27 - 1
13-32950807-GAAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCT-G c.8633_8691del p.Glu2878Valfs*9 Unclassified 21/27 - 1
13-32950810-AA-A c.8636del p.Asn2879Thrfs*12 Frameshift 21/27 - 1
13-32950816-C-CTTTT c.8642_8643insTTTT p.Lys2882Phefs*26 Frameshift 21/27 - 3
13-32950822-CC-C c.8648del p.Pro2883Hisfs*8 Frameshift 21/27 - 1
13-32950826-T-G c.8652T>G p.Tyr2884* Nonsense 21/27 - 1
13-32950826-T-A c.8652T>A p.Tyr2884* Nonsense 21/27 - 1
13-32950833-T-G c.8659T>G p.Ser2887Ala Missense 21/27 - 1
13-32950836-C-T c.8662C>T p.Arg2888Cys Missense 21/27 - 7
13-32950836-CG-GC c.8662_8663delinsGC p.Arg2888Ala Missense 21/27 - 1
13-32950843-T-TT c.8669dup p.Thr2891Asnfs*16 Frameshift 21/27 - 1
13-32950846-C-A c.8672C>A p.Thr2891Lys Missense 21/27 - 1
13-32950851-C-T c.8677C>T p.Gln2893* Nonsense 21/27 - 1
13-32950854-C-T c.8680C>T p.Gln2894* Nonsense 21/27 - 1
13-32950860-C-T c.8686C>T p.Arg2896Cys Missense 21/27 - 2
13-32950861-G-A c.8687G>A p.Arg2896His Missense 21/27 - 2
13-32950869-C-T c.8695C>T p.Gln2899* Nonsense 21/27 - 2
13-32950871-AAGATGGTGCAGAGCTTTATGAAGCAGTGAA-A c.8697_8726del p.Asp2900_Lys2909del InFrameDeletion 21/27 - 1
13-32950876-G-A c.8702G>A p.Gly2901Asp Missense 21/27 - 8
13-32950878-G-A c.8704G>A p.Ala2902Thr Missense 21/27 - 1
13-32950881-G-T c.8707G>T p.Glu2903* Nonsense 21/27 - 1
13-32950887-TT-T c.8713del p.Tyr2905Metfs*4 Frameshift 21/27 - 2
13-32950891-GAA-G c.8717_8718del p.Glu2906Glyfs*12 Frameshift 21/27 - 2
13-32950897-GTGAAGAATGCAGCAGACCCAGCTTACCTTG-G c.8723_8752del p.Val2908_Leu2917del InFrameDeletion 21/27 - 1
13-32950897-T-G c.8723T>G p.Val2908Gly Missense 21/27 - 9
13-32950904-AT-A c.8730del p.Asn2910Lysfs*17 Frameshift 21/27 - 1
13-32950906-C-A c.8732C>A p.Ala2911Glu Missense 21/27 - 3
13-32950908-G-A c.8734G>A p.Ala2912Thr Missense 21/27 - 1
13-32950909-C-T c.8735C>T p.Ala2912Val Missense 21/27 - 1
13-32950910-CAGACCCAGC-C c.8736_8744del p.Asp2913_Ala2915del InFrameDeletion 21/27 - 1
13-32950911-G-C c.8737G>C p.Asp2913His Missense 21/27 - 1
13-32950912-A-G c.8738A>G p.Asp2913Gly Missense 21/27 - 1
13-32950913-C-G c.8739C>G p.Asp2913Glu Missense 21/27 - 2
13-32950917-GC-TG c.8743_8744delinsTG p.Ala2915Cys Missense 21/27 - 1
13-32950928-G-A c.8754G>A p.Glu2918Glu Synonymous 21/27 - 4
13-32950929-G-A c.8754+1G>A - IntronicSNV - 21/26 7
13-32950929-G-T c.8754+1G>T - IntronicSNV - 21/26 1
13-32950931-G-C c.8754+3G>C - IntronicSNV - 21/26 1
13-32950932-A-G c.8754+4A>G - IntronicSNV - 21/26 10
13-32950933-G-A c.8754+5G>A - IntronicSNV - 21/26 3
13-32950933-G-T c.8754+5G>T - IntronicSNV - 21/26 2
13-32951115-C-T c.8754+187C>T - IntronicSNV - 21/26 1
13-32951454-C-A c.8754+526C>A - IntronicSNV - 21/26 1
13-32951454-C-T c.8754+526C>T - IntronicSNV - 21/26 1
13-32953182-A-G c.8755-272A>G - IntronicSNV - 21/26 5
13-32953388-T-C c.8755-66T>C - IntronicSNV - 21/26 11
13-32953453-G-A c.8755-1G>A - IntronicSNV - 21/26 5
13-32953454-GGG-G c.8755_8756del p.Gly2919Leufs*4 SpliceAcceptorDeletion 22/27 - 1
13-32953454-G-A c.8755G>A p.Gly2919Ser Missense 22/27 - 1
13-32953454-G-T c.8755G>T p.Gly2919Cys Missense 22/27 - 1
13-32953455-GG-G c.8756del p.Gly2919Valfs*8 Frameshift 22/27 - 4
13-32953455-GGT-G c.8756_8757del p.Gly2919Valfs*4 SpliceAcceptorDeletion 22/27 - 3
13-32953455-GGTTAT-G c.8756_8760del p.Gly2919Valfs*3 SpliceAcceptorDeletion 22/27 - 1
13-32953463-A-G c.8764A>G p.Ser2922Gly Missense 22/27 - 1
13-32953463-CAG-C c.8764_8765del p.Ser2922* Frameshift 22/27 - 2
13-32953472-C-T c.8773C>T p.Gln2925* Nonsense 22/27 - 3
13-32953472-C-A c.8773C>A p.Gln2925Lys Missense 22/27 - 2
13-32953473-A-G c.8774A>G p.Gln2925Arg Missense 22/27 - 3
13-32953474-G-C c.8775G>C p.Gln2925His Missense 22/27 - 3
13-32953476-T-A c.8777T>A p.Leu2926* Nonsense 22/27 - 1
13-32953485-T-G c.8786T>G p.Leu2929Trp Missense 22/27 - 1
13-32953490-A-G c.8791A>G p.Asn2931Asp Missense 22/27 - 1
13-32953496-CA-C c.8797del p.Arg2933Glyfs*4 Frameshift 22/27 - 1
13-32953499-GC-G c.8800del p.Gln2934Lysfs*3 Frameshift 22/27 - 1
13-32953515-A-G c.8816A>G p.Lys2939Arg Missense 22/27 - 1
13-32953516-AGAAA-A c.8817_8820del p.Lys2939Asnfs*36 Frameshift 22/27 - 3
13-32953519-AACAA-A c.8820_8823del p.Gln2941Leufs*34 Frameshift 22/27 - 1
13-32953522-A-AA c.8823dup p.Ala2942Serfs*8 Frameshift 22/27 - 1
13-32953526-C-T c.8827C>T p.Gln2943* Nonsense 22/27 - 1
13-32953529-A-T c.8830A>T p.Ile2944Phe Missense 22/27 - 11
13-32953538-G-A c.8839G>A p.Glu2947Lys Missense 22/27 - 2
13-32953541-AA-A c.8842del p.Ile2948Leufs*28 Frameshift 22/27 - 2
13-32953549-G-T c.8850G>T p.Lys2950Asn Missense 22/27 - 19
13-32953550-G-A c.8851G>A p.Ala2951Thr Missense 22/27 - 21
13-32953557-A-C c.8858A>C p.Glu2953Ala Missense 22/27 - 1
13-32953566-A-C c.8867A>C p.Glu2956Ala Missense 22/27 - 1
13-32953568-C-T c.8869C>T p.Gln2957* Nonsense 22/27 - 3
13-32953577-C-G c.8878C>G p.Gln2960Glu Missense 22/27 - 1
13-32953577-C-T c.8878C>T p.Gln2960* Nonsense 22/27 - 16
13-32953589-A-AA c.8890dup p.Arg2964Lysfs*54 Frameshift 22/27 - 1
13-32953590-G-C c.8891G>C p.Arg2964Thr Missense 22/27 - 1
13-32953592-G-C c.8893G>C p.Asp2965His Missense 22/27 - 4
13-32953593-GA-G c.8894del p.Asp2965Valfs*11 Frameshift 22/27 - 1
13-32953596-T-C c.8897T>C p.Val2966Ala Missense 22/27 - 1
13-32953601-A-G c.8902A>G p.Thr2968Ala Missense 22/27 - 2
13-32953603-CC-C c.8904del p.Val2969Cysfs*7 Frameshift 22/27 - 8
13-32953604-G-A c.8905G>A p.Val2969Met Missense 22/27 - 6
13-32953609-G-A c.8910G>A p.Trp2970* Nonsense 22/27 - 2
13-32953608-G-A c.8909G>A p.Trp2970* Nonsense 22/27 - 2
13-32953610-AA-GC c.8911_8912delinsGC p.Lys2971Ala Missense 22/27 - 1
13-32953610-A-G c.8911A>G p.Lys2971Glu Missense 22/27 - 1
13-32953611-AA-A c.8912del p.Lys2971Serfs*5 Frameshift 22/27 - 1
13-32953614-TT-T c.8915del p.Leu2972Cysfs*4 Frameshift 22/27 - 2
13-32953614-T-G c.8915T>G p.Leu2972Trp Missense 22/27 - 3
13-32953616-C-T c.8917C>T p.Arg2973Cys Missense 22/27 - 13
13-32953623-GT-G c.8924del p.Val2975Glufs*13 Frameshift 22/27 - 3
13-32953629-TA-T c.8930del p.Tyr2977Phefs*11 Frameshift 22/27 - 1
13-32953632-C-G c.8933C>G p.Ser2978* Nonsense 22/27 - 2
13-32953632-C-A c.8933C>A p.Ser2978* Nonsense 22/27 - 2
13-32953639-AA-A c.8940del p.Glu2981Lysfs*7 Frameshift 22/27 - 1
13-32953640-G-A c.8941G>A p.Glu2981Lys Missense 22/27 - 2
13-32953640-G-T c.8941G>T p.Glu2981* Nonsense 22/27 - 1
13-32953641-A-G c.8942A>G p.Glu2981Gly Missense 22/27 - 2
13-32953644-AAA-A c.8945_8946del p.Lys2982Argfs*35 Frameshift 22/27 - 1
13-32953645-A-AA c.8946dup p.Asp2983Argfs*35 Frameshift 22/27 - 1
13-32953645-AA-A c.8946del p.Asp2983Ilefs*5 Frameshift 22/27 - 4
13-32953646-AGA-A c.8947_8948del p.Asp2983Phefs*34 Frameshift 22/27 - 2
13-32953647-GATTCAGGTAAG-G c.8948_8953+5del - SpliceDonorDeletion 22/27 22/26 1
13-32953649-TT-T c.8950del p.Ser2984Glnfs*4 Frameshift 22/27 - 1
13-32953650-C-A c.8951C>A p.Ser2984* Nonsense 22/27 - 2
13-32953650-C-G c.8951C>G p.Ser2984* Nonsense 22/27 - 6
13-32953650-C-T c.8951C>T p.Ser2984Leu Missense 22/27 - 1
13-32953653-G-T c.8953+1G>T - IntronicSNV - 22/26 3
13-32953882-AAACA-A c.8954-5_8954-2del - IntronicDeletion - 22/26 1
13-32953884-C-G c.8954-3C>G - IntronicSNV - 22/26 1
13-32953889-A-AA c.8956dup p.Ile2986Asnfs*32 SpliceAcceptorInsertion 23/27 - 1
13-32953889-A-AAA c.8956_8957insAA p.Ile2986Lysfs*3 Frameshift 23/27 - 1
13-32953889-TATACTGAGTATTTGGCGTCCATCATCAGAT-T c.8956_8985del p.Ile2986_Asp2995del InFrameDeletion 23/27 - 1
13-32953892-CT-GC c.8959_8960delinsGC p.Leu2987Ala Missense 23/27 - 1
13-32953894-TGAGT-T c.8961_8964del p.Ser2988Phefs*12 Frameshift 23/27 - 3
13-32953895-A-G c.8962A>G p.Ser2988Gly Missense 23/27 - 5
13-32953901-TG-GC c.8968_8969delinsGC p.Trp2990Ala Missense 23/27 - 3
13-32953902-G-A c.8969G>A p.Trp2990* Nonsense 23/27 - 4
13-32953904-C-T c.8971C>T p.Arg2991Cys Missense 23/27 - 1
13-32953904-CG-GC c.8971_8972delinsGC p.Arg2991Ala Missense 23/27 - 1
13-32953905-G-A c.8972G>A p.Arg2991His Missense 23/27 - 4
13-32953908-CCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTT-C c.8975_9033del p.Pro2992Argfs*6 InFrameDeletion 23/27 - 2
13-32953911-C-G c.8978C>G p.Ser2993* Nonsense 23/27 - 1
13-32953911-TCATCAGATTTATAT-T c.8978_8991del p.Ser2993Phefs*20 Frameshift 23/27 - 1
13-32953914-TCAGATTTATATTCTCTGTTAACAGAAGGAA-T c.8981_9010del p.Ser2994_Lys3004delins* MultiAAMissense 23/27 - 1
13-32953920-T-A c.8987T>A p.Leu2996* Nonsense 23/27 - 1
13-32953924-T-A c.8991T>A p.Tyr2997* Nonsense 23/27 - 1
13-32953924-T-G c.8991T>G p.Tyr2997* Nonsense 23/27 - 1
13-32953925-TTCTCTGTTAACAGAAGGAAAGAGATACAGAATTT-T c.8992_9025del p.Ser2998Ilefs*19 Frameshift 23/27 - 1
13-32953931-TT-GC c.8998_8999delinsGC p.Leu3000Ala Missense 23/27 - 1
13-32953932-T-A c.8999T>A p.Leu3000* Nonsense 23/27 - 1
13-32953932-T-G c.8999T>G p.Leu3000* Nonsense 23/27 - 1
13-32953934-AACA-A c.9001_9003del p.Thr3001del InFrameDeletion 23/27 - 1
13-32953937-G-A c.9004G>A p.Glu3002Lys Missense 23/27 - 20
13-32953939-AA-A c.9006del p.Gly3003Glufs*25 Frameshift 23/27 - 1
13-32953939-A-T c.9006A>T p.Glu3002Asp Missense 23/27 - 7
13-32953941-G-A c.9008G>A p.Gly3003Glu Missense 23/27 - 2
13-32953946-AG-GC c.9013_9014delinsGC p.Arg3005Ala