BRCA2 BRCA2 DNA repair associated

Canonical transcript: NM_000059

5604 unique variant annotations were identified in 2085 publications

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-C c.-52A>C - 5_prime_UTR_variant 1/27 - 13
13-32889792-A-G c.-52A>G - 5_prime_UTR_variant 1/27 - 13
13-32889829-G-C c.-40+25G>C - intron_variant - 1/26 1
13-32889968-G-A c.-40+164G>A - intron_variant - 1/26 11
13-32889968-G-T c.-40+164G>T - IntronicSNV - 1/26 1
13-32890006-G-C c.-40+202G>C - IntronicSNV - 1/26 1
13-32890026-C-T c.-40+222C>T - intron_variant - 1/26 5
13-32890026-C-A c.-40+222C>A - intron_variant - 1/26 5
13-32890110-G-A c.-40+306G>A - IntronicSNV - 1/26 1
13-32890190-T-A c.-39-369T>A - IntronicSNV - 1/26 1
13-32890227-G-A c.-39-332G>A - IntronicSNV - 1/26 13
13-32890227-G-T c.-39-332G>T - IntronicSNV - 1/26 14
13-32890311-C-T c.-39-248C>T - IntronicSNV - 1/26 2
13-32890378-G-T c.-39-181G>T - IntronicSNV - 1/26 1
13-32890383-C-T c.-39-176C>T - IntronicSNV - 1/26 1
13-32890443-G-A c.-39-116G>A - IntronicSNV - 1/26 1
13-32890444-G-A c.-39-115G>A - IntronicSNV - 1/26 1
13-32890445-A-G c.-39-114A>G - IntronicSNV - 1/26 1
13-32890465-T-G c.-39-94T>G - IntronicSNV - 1/26 2
13-32890468-A-G c.-39-91A>G - IntronicSNV - 1/26 1
13-32890471-A-G c.-39-88A>G - IntronicSNV - 1/26 1
13-32890487-C-T c.-39-72C>T - IntronicSNV - 1/26 1
13-32890488-T-C c.-39-71T>C - IntronicSNV - 1/26 1
13-32890495-T-C c.-39-64T>C - IntronicSNV - 1/26 1
13-32890499-T-C c.-39-60T>C - IntronicSNV - 1/26 1
13-32890511-T-G c.-39-48T>G - IntronicSNV - 1/26 2
13-32890523-C-G c.-39-36C>G - IntronicSNV - 1/26 1
13-32890524-C-G c.-39-35C>G - IntronicSNV - 1/26 1
13-32890525-C-G c.-39-34C>G - IntronicSNV - 1/26 1
13-32890532-A-G c.-39-27A>G - IntronicSNV - 1/26 1
13-32890548-C-T c.-39-11C>T - IntronicSNV - 1/26 1
13-32890555-G-T c.-39-4G>T - IntronicSNV - 1/26 1
13-32890557-A-G c.-39-2A>G - IntronicSNV - 1/26 1
13-32890558-G-A c.-39-1G>A - IntronicSNV - 1/26 1
13-32890560-C-T c.-38C>T - 5-UTRSNV 2/27 - 1
13-32890568-C-T c.-30C>T - 5-UTRSNV 2/27 - 1
13-32890571-A-G c.-27A>G - 5-UTRSNV 2/27 - 1
13-32890572-G-C c.-26G>C - 5-UTRSNV 2/27 - 28
13-32890572-G-T c.-26G>T - 5-UTRSNV 2/27 - 29
13-32890572-G-A c.-26G>A - 5-UTRSNV 2/27 - 48
13-32890573-C-G c.-25C>G - 5-UTRSNV 2/27 - 1
13-32890582-A-G c.-16A>G - 5-UTRSNV 2/27 - 1
13-32890583-A-C c.-15A>C - 5-UTRSNV 2/27 - 2
13-32890586-T-C c.-12T>C - 5-UTRSNV 2/27 - 1
13-32890587-C-T c.-11C>T - 5-UTRSNV 2/27 - 5
13-32890589-T-C c.-9T>C - 5-UTRSNV 2/27 - 1
13-32890598-A-G c.1A>G p.Met1? Missense 2/27 - 1
13-32890598-AATGCCTATTGGATCCAAAGAGAGGCCAACATTTTTTGAAATTTTTAAGACACGCTGCAA-A c.1_59del p.Met1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion 2/27 - 2
13-32890599-T-G c.2T>G p.Met1? Missense 2/27 - 8
13-32890599-T-A c.2T>A p.Met1? Missense 2/27 - 1
13-32890599-T-C c.2T>C p.Met1? Missense 2/27 - 2
13-32890600-G-A c.3G>A p.Met1? Missense 2/27 - 9
13-32890600-TG-T c.3del p.Met1? CdsStartDeletion 2/27 - 1
13-32890602-C-G c.5C>G p.Pro2Arg Missense 2/27 - 1
13-32890606-T-C c.9T>C p.Ile3Ile Synonymous 2/27 - 1
13-32890606-T-A c.9T>A p.Ile3Ile Synonymous 2/27 - 1
13-32890607-G-T c.10G>T p.Gly4* Nonsense 2/27 - 1
13-32890607-G-C c.10G>C p.Gly4Arg Missense 2/27 - 1
13-32890607-G-A c.10G>A p.Gly4Arg Missense 2/27 - 1
13-32890615-AAGAGAGGCCAA-A c.18_28del p.Lys6Asnfs*4 Frameshift 2/27 - 1
13-32890616-G-C c.19G>C p.Glu7Gln Missense 2/27 - 1
13-32890616-G-A c.19G>A p.Glu7Lys Missense 2/27 - 1
13-32890616-G-T c.19G>T p.Glu7* Nonsense 2/27 - 2
13-32890618-AGAGGCCAACATTTTTTGAAATTTTTAAGA-A c.21_49del p.Glu7Aspfs*14 Frameshift 2/27 - 1
13-32890619-GAG-G c.22_23del p.Arg8Alafs*5 Frameshift 2/27 - 2
13-32890623-C-T c.26C>T p.Pro9Leu Missense 2/27 - 1
13-32890623-CC-C c.26del p.Pro9Glnfs*16 Frameshift 2/27 - 2
13-32890626-C-A c.29C>A p.Thr10Lys Missense 2/27 - 1
13-32890628-TT-CG c.31_32delinsCG p.Phe11Arg Missense 2/27 - 23
13-32890631-T-G c.34T>G p.Phe12Val Missense 2/27 - 1
13-32890631-TTT-AAG c.34_36delinsAAG p.Phe12Lys Missense 2/27 - 3
13-32890633-TT-T c.36del p.Phe12Leufs*13 Frameshift 2/27 - 1
13-32890634-TGAAATTTT-T c.37_44del p.Glu13* Frameshift 2/27 - 1
13-32890634-GA-AG c.37_38delinsAG p.Glu13Arg Missense 2/27 - 1
13-32890638-ATTTTTAAGACACGCTGCAACAAAGCAGGTATTGACA-A c.41_67+9del - SpliceDonorDeletion 2/27 2/26 1
13-32890640-TT-GA c.43_44delinsGA p.Phe15Asp Missense 2/27 - 1
13-32890641-T-TATT c.44_45insATT p.Ile14_Phe15insLeu InFrameInsertion 2/27 - 1
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A c.50_67+41del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/27 2/26 1
13-32890646-A-G c.49A>G p.Thr17Ala Missense 2/27 - 1
13-32890647-C-T c.50C>T p.Thr17Ile Missense 2/27 - 1
13-32890647-C-A c.50C>A p.Thr17Lys Missense 2/27 - 1
13-32890648-CAC-C c.51_52del p.Arg18Leufs*12 Frameshift 2/27 - 4
13-32890648-A-AA c.51dup p.Arg18Thrfs*13 Frameshift 2/27 - 1
13-32890649-C-CA c.52_53insA p.Arg18Glnfs*13 Frameshift 2/27 - 1
13-32890649-C-T c.52C>T p.Arg18Cys Missense 2/27 - 1
13-32890650-G-C c.53G>C p.Arg18Pro Missense 2/27 - 5
13-32890650-G-A c.53G>A p.Arg18His Missense 2/27 - 16
13-32890653-G-A c.56G>A p.Cys19Tyr Missense 2/27 - 1
13-32890655-AAC-TAA c.58_60delinsTAA p.Asn20* Nonsense 2/27 - 1
13-32890657-ACAA-A c.60_62del p.Asn20del InFrameDeletion 2/27 - 1
13-32890659-A-G c.62A>G p.Lys21Arg Missense 2/27 - 2
13-32890660-AA-A c.63del p.Ala22Glnfs*3 Frameshift 2/27 - 1
13-32890661-G-A c.64G>A p.Ala22Thr Missense 2/27 - 2
13-32890662-C-T c.65C>T p.Ala22Val Missense 2/27 - 2
13-32890663-CAG-C c.66_67del p.Asp23Phefs*7 SpliceDonorDeletion 2/27 - 6
13-32890663-A-AA c.66dup p.Asp23Argfs*8 SpliceDonorInsertion 2/27 - 2
13-32890664-G-T c.67G>T p.Asp23Tyr Missense 2/27 - 1
13-32890664-G-C c.67G>C p.Asp23His Missense 2/27 - 1
13-32890664-G-A c.67G>A p.Asp23Asn Missense 2/27 - 2
13-32890665-G-A c.67+1G>A - IntronicSNV - 2/26 6
13-32890665-G-T c.67+1G>T - IntronicSNV - 2/26 2
13-32890665-G-C c.67+1G>C - IntronicSNV - 2/26 2
13-32890666-T-C c.67+2T>C - IntronicSNV - 2/26 5
13-32890666-T-G c.67+2T>G - IntronicSNV - 2/26 1
13-32890666-T-A c.67+2T>A - IntronicSNV - 2/26 1
13-32890667-A-G c.67+3A>G - IntronicSNV - 2/26 3
13-32890669-T-A c.67+5T>A - IntronicSNV - 2/26 1
13-32890681-T-C c.67+17T>C - IntronicSNV - 2/26 1
13-32890721-A-C c.67+57A>C - IntronicSNV - 2/26 1
13-32890726-T-G c.67+62T>G - IntronicSNV - 2/26 1
13-32890746-C-G c.67+82C>G - IntronicSNV - 2/26 1
13-32891706-A-G c.67+1042A>G - IntronicSNV - 2/26 4
13-32891706-A-C c.67+1042A>C - IntronicSNV - 2/26 4
13-32891798-T-C c.67+1134T>C - IntronicSNV - 2/26 3
13-32892290-ATAACTCATGCAAATGTGCCAGCAGTTTTACCCAGCATCATCTTTGCACTGTTGATACAA-A c.68-924_68-866del - Unclassified - 2/26 1
13-32892820-T-C c.68-394T>C - IntronicSNV - 2/26 1
13-32893193-T-G c.68-21T>G - IntronicSNV - 2/26 1
13-32893197-A-G c.68-17A>G - IntronicSNV - 2/26 1
13-32893207-TT-T c.68-7del - IntronicDeletion - 2/26 6
13-32893207-T-TT c.68-7dup - IntronicInsertion - 2/26 1
13-32893207-T-A c.68-7T>A - IntronicSNV - 2/26 23
13-32893209-A-G c.68-5A>G - IntronicSNV - 2/26 1
13-32893210-A-T c.68-4A>T - IntronicSNV - 2/26 1
13-32893213-G-C c.68-1G>C - IntronicSNV - 2/26 1
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G c.69_127del p.Asp23Glufs*3 Unclassified 3/27 - 2
13-32893214-GAT-G c.68_69del p.Asp23Valfs*7 SpliceAcceptorDeletion 3/27 - 3
13-32893215-T-TAG c.69_70insAG p.Leu24Serfs*2 SpliceAcceptorInsertion 3/27 - 1
13-32893217-T-TGTCT c.71_72insGTCT p.Gly25Serfs*7 Frameshift 3/27 - 1
13-32893217-T-A c.71T>A p.Leu24* Nonsense 3/27 - 1
13-32893218-TA-T c.72del p.Gly25Aspfs*3 Frameshift 3/27 - 1
13-32893218-A-T c.72A>T p.Leu24Phe Missense 3/27 - 2
13-32893219-G-T c.73G>T p.Gly25* Nonsense 3/27 - 2
13-32893219-G-A c.73G>A p.Gly25Arg Missense 3/27 - 16
13-32893220-G-A c.74G>A p.Gly25Glu Missense 3/27 - 1
13-32893223-C-T c.77C>T p.Pro26Leu Missense 3/27 - 1
13-32893224-A-G c.78A>G p.Pro26Pro Synonymous 3/27 - 2
13-32893224-A-T c.78A>T p.Pro26Pro Synonymous 3/27 - 1
13-32893224-A-C c.78A>C p.Pro26Pro Synonymous 3/27 - 1
13-32893225-A-G c.79A>G p.Ile27Val Missense 3/27 - 4
13-32893225-ATA-TGT c.79_81delinsTGT p.Ile27Cys Missense 3/27 - 1
13-32893228-A-G c.82A>G p.Ser28Gly Missense 3/27 - 1
13-32893229-AGT-A c.83_84del p.Ser28Thrfs*2 Frameshift 3/27 - 1
13-32893235-A-AA c.89dup p.Asn30Lysfs*4 Frameshift 3/27 - 1
13-32893236-T-C c.90T>C p.Asn30Asn Synonymous 3/27 - 1
13-32893237-T-C c.91T>C p.Trp31Arg Missense 3/27 - 10
13-32893237-T-G c.91T>G p.Trp31Gly Missense 3/27 - 5
13-32893239-G-A c.93G>A p.Trp31* Nonsense 3/27 - 6
13-32893238-G-T c.92G>T p.Trp31Leu Missense 3/27 - 2
13-32893238-G-A c.92G>A p.Trp31* Nonsense 3/27 - 6
13-32893239-G-T c.93G>T p.Trp31Cys Missense 3/27 - 15
13-32893242-T-C c.96T>C p.Phe32Phe Synonymous 3/27 - 1
13-32893243-G-T c.97G>T p.Glu33* Nonsense 3/27 - 2
13-32893243-G-A c.97G>A p.Glu33Lys Missense 3/27 - 1
13-32893245-A-G c.99A>G p.Glu33Glu Synonymous 3/27 - 1
13-32893246-G-T c.100G>T p.Glu34* Nonsense 3/27 - 1
13-32893246-G-A c.100G>A p.Glu34Lys Missense 3/27 - 1
13-32893249-CT-GC c.103_104delinsGC p.Leu35Ala Missense 3/27 - 2
13-32893249-C-T c.103C>T p.Leu35Phe Missense 3/27 - 1
13-32893250-T-C c.104T>C p.Leu35Pro Missense 3/27 - 1
13-32893253-C-A c.107C>A p.Ser36Tyr Missense 3/27 - 1
13-32893253-C-T c.107C>T p.Ser36Phe Missense 3/27 - 1
13-32893255-T-G c.109T>G p.Ser37Ala Missense 3/27 - 1
13-32893255-T-C c.109T>C p.Ser37Pro Missense 3/27 - 1
13-32893256-C-T c.110C>T p.Ser37Leu Missense 3/27 - 1
13-32893258-G-T c.112G>T p.Glu38* Nonsense 3/27 - 1
13-32893258-G-A c.112G>A p.Glu38Lys Missense 3/27 - 2
13-32893261-AG-A c.115del p.Ala39Leufs*41 Frameshift 3/27 - 2
13-32893264-C-T c.118C>T p.Pro40Ser Missense 3/27 - 1
13-32893266-A-AA c.120dup p.Pro41Thrfs*3 Frameshift 3/27 - 1
13-32893266-A-G c.120A>G p.Pro40Pro Synonymous 3/27 - 1
13-32893267-C-T c.121C>T p.Pro41Ser Missense 3/27 - 1
13-32893268-C-T c.122C>T p.Pro41Leu Missense 3/27 - 2
13-32893271-A-T c.125A>T p.Tyr42Phe Missense 3/27 - 1
13-32893271-A-G c.125A>G p.Tyr42Cys Missense 3/27 - 52
13-32893271-A-C c.125A>C p.Tyr42Ser Missense 3/27 - 1
13-32893276-TC-GG c.130_131delinsGG p.Ser44Gly Missense 3/27 - 1
13-32893276-T-TA c.130_131insA p.Ser44Tyrfs*2 Frameshift 3/27 - 1
13-32893283-C-A c.137C>A p.Pro46His Missense 3/27 - 1
13-32893285-GCA-TGT c.139_141delinsTGT p.Ala47Cys Missense 3/27 - 1
13-32893288-G-A c.142G>A p.Glu48Lys Missense 3/27 - 1
13-32893289-A-G c.143A>G p.Glu48Gly Missense 3/27 - 1
13-32893290-A-G c.144A>G p.Glu48Glu Synonymous 3/27 - 1
13-32893291-G-C c.145G>C p.Glu49Gln Missense 3/27 - 3
13-32893291-G-T c.145G>T p.Glu49* Nonsense 3/27 - 24
13-32893294-TC-AA c.148_149delinsAA p.Ser50Asn Missense 3/27 - 1
13-32893297-TGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATC-T c.151_209del p.Glu51Leufs*2 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 3/27 - 1
13-32893300-C-T c.154C>T p.His52Tyr Missense 3/27 - 3
13-32893302-ATAAAAACA-A c.156_163del p.His52Glnfs*9 Frameshift 3/27 - 1
13-32893304-A-G c.158A>G p.Lys53Arg Missense 3/27 - 1
13-32893307-AA-A c.161del p.Asn54Thrfs*26 Frameshift 3/27 - 3
13-32893307-A-T c.161A>T p.Asn54Ile Missense 3/27 - 1
13-32893307-A-AA c.161dup p.Asn54Lysfs*10 Frameshift 3/27 - 39
13-32893310-A-G c.164A>G p.Asn55Ser Missense 3/27 - 1
13-32893311-AC-A c.165del p.Asn55Lysfs*25 Frameshift 3/27 - 1
13-32893311-ACAA-A c.165_167del p.Asn56del InFrameDeletion 3/27 - 1
13-32893313-A-C c.167A>C p.Asn56Thr Missense 3/27 - 3
13-32893313-A-G c.167A>G p.Asn56Ser Missense 3/27 - 1
13-32893316-A-AA c.170dup p.Tyr57* Nonsense 3/27 - 1
13-32893316-A-G c.170A>G p.Tyr57Cys Missense 3/27 - 1
13-32893317-C-G c.171C>G p.Tyr57* Nonsense 3/27 - 1
13-32893317-C-T c.171C>T p.Tyr57Tyr Synonymous 3/27 - 1
13-32893317-AC-A c.171del p.Tyr57* Frameshift 3/27 - 1
13-32893318-G-A c.172G>A p.Glu58Lys Missense 3/27 - 2
13-32893318-G-T c.172G>T p.Glu58* Nonsense 3/27 - 1
13-32893319-A-C c.173A>C p.Glu58Ala Missense 3/27 - 1
13-32893321-CC-TA c.175_176delinsTA p.Pro59* Nonsense 3/27 - 3
13-32893321-C-G c.175C>G p.Pro59Ala Missense 3/27 - 3
13-32893321-C-A c.175C>A p.Pro59Thr Missense 3/27 - 1
13-32893325-A-G c.179A>G p.Asn60Ser Missense 3/27 - 5
13-32893328-CT-C c.182del p.Leu61Hisfs*19 Frameshift 3/27 - 1
13-32893328-T-C c.182T>C p.Leu61Pro Missense 3/27 - 1
13-32893330-T-A c.184T>A p.Phe62Ile Missense 3/27 - 1
13-32893330-TTT-GAG c.184_186delinsGAG p.Phe62Glu Missense 3/27 - 2
13-32893334-A-G c.188A>G p.Lys63Arg Missense 3/27 - 2
13-32893336-A-AA c.190dup p.Thr64Asnfs*9 Frameshift 3/27 - 1
13-32893336-A-ATGATTCTA c.190_191insTGATTCTA p.Thr64Metfs*19 Frameshift 3/27 - 1
13-32893337-C-T c.191C>T p.Thr64Ile Missense 3/27 - 1
13-32893339-C-T c.193C>T p.Pro65Ser Missense 3/27 - 1
13-32893342-C-T c.196C>T p.Gln66* Nonsense 3/27 - 1
13-32893342-C-G c.196C>G p.Gln66Glu Missense 3/27 - 1
13-32893344-A-G c.198A>G p.Gln66Gln Synonymous 3/27 - 2
13-32893346-AGGAAACCATCTTA-A c.200_212del p.Arg67Ilefs*9 Frameshift 3/27 - 1
13-32893349-A-C c.203A>C p.Lys68Thr Missense 3/27 - 1
13-32893350-A-G c.204A>G p.Lys68Lys Synonymous 3/27 - 1
13-32893352-C-T c.206C>T p.Pro69Leu Missense 3/27 - 1
13-32893357-TT-T c.211del p.Tyr71Ilefs*9 Frameshift 3/27 - 1
13-32893361-A-T c.215A>T p.Asn72Ile Missense 3/27 - 2
13-32893361-A-G c.215A>G p.Asn72Ser Missense 3/27 - 4
13-32893366-CTG-TTT c.220_222delinsTTT p.Leu74Phe Missense 3/27 - 1
13-32893368-G-C c.222G>C p.Leu74Leu Synonymous 3/27 - 2
13-32893368-G-A c.222G>A p.Leu74Leu Synonymous 3/27 - 2
13-32893369-G-C c.223G>C p.Ala75Pro Missense 3/27 - 26
13-32893369-GC-TG c.223_224delinsTG p.Ala75Cys Missense 3/27 - 1
13-32893370-C-T c.224C>T p.Ala75Val Missense 3/27 - 1
13-32893373-C-G c.227C>G p.Ser76* Nonsense 3/27 - 1
13-32893373-C-A c.227C>A p.Ser76* Nonsense 3/27 - 1
13-32893375-A-G c.229A>G p.Thr77Ala Missense 3/27 - 3
13-32893377-T-G c.231T>G p.Thr77Thr Synonymous 3/27 - 6
13-32893379-C-T c.233C>T p.Pro78Leu Missense 3/27 - 1
13-32893381-A-G c.235A>G p.Ile79Val Missense 3/27 - 1
13-32893386-A-G c.240A>G p.Ile80Met Missense 3/27 - 1
13-32893387-T-A c.241T>A p.Phe81Ile Missense 3/27 - 1
13-32893390-A-T c.244A>T p.Lys82* Nonsense 3/27 - 1
13-32893392-A-AA c.246dup p.Glu83Argfs*18 Frameshift 3/27 - 1
13-32893396-C-T c.250C>T p.Gln84* Nonsense 3/27 - 6
13-32893397-A-C c.251A>C p.Gln84Pro Missense 3/27 - 1
13-32893406-CT-TG c.260_261delinsTG p.Thr87Met Missense 3/27 - 1
13-32893408-C-G c.262C>G p.Leu88Val Missense 3/27 - 1
13-32893408-CT-TA c.262_263delinsTA p.Leu88* Nonsense 3/27 - 1
13-32893408-TCT-T c.262_263del p.Leu88Alafs*12 Frameshift 3/27 - 9
13-32893412-C-A c.266C>A p.Pro89Gln Missense 3/27 - 1
13-32893412-C-T c.266C>T p.Pro89Leu Missense 3/27 - 2
13-32893413-G-T c.267G>T p.Pro89Pro Synonymous 3/27 - 2
13-32893413-G-A c.267G>A p.Pro89Pro Synonymous 3/27 - 3
13-32893413-G-C c.267G>C p.Pro89Pro Synonymous 3/27 - 2
13-32893419-C-G c.273C>G p.Tyr91* Nonsense 3/27 - 1
13-32893419-C-A c.273C>A p.Tyr91* Nonsense 3/27 - 1
13-32893420-C-T c.274C>T p.Gln92* Nonsense 3/27 - 4
13-32893421-CAA-C c.275_276del p.Gln92Leufs*8 Frameshift 3/27 - 1
13-32893421-A-G c.275A>G p.Gln92Arg Missense 3/27 - 1
13-32893422-A-G c.276A>G p.Gln92Gln Synonymous 3/27 - 1
13-32893422-A-AA c.276dup p.Ser93Ilefs*8 Frameshift 3/27 - 5
13-32893423-ATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAGGTAAGTAATGCAATATGGT-A c.277_316+19del - SpliceDonorDeletion 3/27 3/26 1
13-32893426-C-T c.280C>T p.Pro94Ser Missense 3/27 - 5
13-32893426-C-G c.280C>G p.Pro94Ala Missense 3/27 - 1
13-32893429-GTA-ATG c.283_285delinsATG p.Val95Met Missense 3/27 - 1
13-32893435-GAA-TGT c.289_291delinsTGT p.Glu97Cys Missense 3/27 - 1
13-32893435-G-T c.289G>T p.Glu97* Nonsense 3/27 - 6
13-32893436-A-T c.290A>T p.Glu97Val Missense 3/27 - 1
13-32893439-T-G c.293T>G p.Leu98* Nonsense 3/27 - 1
13-32893440-A-G c.294A>G p.Leu98Leu Synonymous 3/27 - 1
13-32893444-A-T c.298A>T p.Lys100* Nonsense 3/27 - 1
13-32893450-A-T c.304A>T p.Lys102* Nonsense 3/27 - 1
13-32893452-A-AA c.306dup p.Leu103Ilefs*10 Frameshift 3/27 - 3
13-32893452-AA-A c.306del p.Lys102Asnfs*2 Frameshift 3/27 - 1
13-32893453-T-A c.307T>A p.Leu103Ile Missense 3/27 - 2
13-32893456-G-C c.310G>C p.Asp104His Missense 3/27 - 1
13-32893456-G-A c.310G>A p.Asp104Asn Missense 3/27 - 1
13-32893459-CTTA-C c.313_315del p.Leu105del InFrameDeletion 3/27 - 1
13-32893460-T-G c.314T>G p.Leu105* Nonsense 3/27 - 2
13-32893460-T-A c.314T>A p.Leu105* Nonsense 3/27 - 2
13-32893462-G-C c.316G>C p.Gly106Arg Missense 3/27 - 1
13-32893462-G-A c.316G>A p.Gly106Arg Missense 3/27 - 1
13-32893463-G-T c.316+1G>T - IntronicSNV - 3/26 3
13-32893464-T-C c.316+2T>C - IntronicSNV - 3/26 1
13-32893466-AA-A c.316+4del - IntronicDeletion - 3/26 2
13-32893467-G-C c.316+5G>C - IntronicSNV - 3/26 5
13-32893467-G-A c.316+5G>A - IntronicSNV - 3/26 3
13-32893471-T-A c.316+9T>A - IntronicSNV - 3/26 1
13-32893474-A-G c.316+12A>G - IntronicSNV - 3/26 2
13-32893495-C-G c.316+33C>G - IntronicSNV - 3/26 1
13-32893535-A-G c.316+73A>G - IntronicSNV - 3/26 1
13-32893583-T-C c.316+121T>C - IntronicSNV - 3/26 1
13-32893791-A-G c.316+329A>G - IntronicSNV - 3/26 6
13-32894484-G-A c.316+1022G>A - IntronicSNV - 3/26 2
13-32894738-G-A c.316+1276G>A - IntronicSNV - 3/26 1
13-32895377-G-C c.316+1915G>C - IntronicSNV - 3/26 2
13-32896676-G-A c.317-2537G>A - IntronicSNV - 3/26 1
13-32896722-C-T c.317-2491C>T - IntronicSNV - 3/26 1
13-32896846-G-A c.317-2367G>A - IntronicSNV - 3/26 2
13-32898238-G-A c.317-975G>A - IntronicSNV - 3/26 1
13-32899159-C-G c.317-54C>G - IntronicSNV - 3/26 1
13-32899203-A-G c.317-10A>G - IntronicSNV - 3/26 2
13-32899212-G-A c.317-1G>A - IntronicSNV - 3/26 1
13-32899213-G-T c.317G>T p.Gly106Val Missense 4/27 - 1
13-32899214-GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATC-G c.321_379del p.Arg107Serfs*3 Unclassified 4/27 - 1
13-32899215-AGG-CAT c.319_321delinsCAT p.Arg107His Missense 4/27 - 1
13-32899216-G-C c.320G>C p.Arg107Thr Missense 4/27 - 1
13-32899219-A-G c.323A>G p.Asn108Ser Missense 4/27 - 1
13-32899224-C-G c.328C>G p.Pro110Ala Missense 4/27 - 3
13-32899224-C-T c.328C>T p.Pro110Ser Missense 4/27 - 1
13-32899227-AA-GC c.331_332delinsGC p.Asn111Ala Missense 4/27 - 1
13-32899231-G-C c.335G>C p.Ser112Thr Missense 4/27 - 1
13-32899233-AG-GC c.337_338delinsGC p.Arg113Ala Missense 4/27 - 2
13-32899233-A-T c.337A>T p.Arg113* Nonsense 4/27 - 1
13-32899233-AG-CA c.337_338delinsCA p.Arg113Gln Missense 4/27 - 1
13-32899235-GA-G c.339del p.Arg113Serfs*8 Frameshift 4/27 - 1
13-32899239-A-G c.343A>G p.Lys115Glu Missense 4/27 - 2
13-32899240-A-C c.344A>C p.Lys115Thr Missense 4/27 - 1
13-32899245-C-A c.349C>A p.Leu117Ile Missense 4/27 - 1
13-32899245-TCT-T c.349_350del p.Leu117Serfs*6 Frameshift 4/27 - 1
13-32899247-TTC-T c.351_352del p.Arg118Hisfs*5 Frameshift 4/27 - 1
13-32899248-C-T c.352C>T p.Arg118Cys Missense 4/27 - 2
13-32899248-C-A c.352C>A p.Arg118Ser Missense 4/27 - 1
13-32899249-G-A c.353G>A p.Arg118His Missense 4/27 - 3
13-32899251-A-G c.355A>G p.Thr119Ala Missense 4/27 - 1
13-32899257-A-C c.361A>C p.Lys121Gln Missense 4/27 - 1
13-32899260-AA-A c.364del p.Thr122Leufs*14 Frameshift 4/27 - 1
13-32899262-T-TT c.366dup p.Lys123* Nonsense 4/27 - 1
13-32899266-AA-A c.370del p.Met124Trpfs*12 Frameshift 4/27 - 2
13-32899269-G-A c.373G>A p.Asp125Asn Missense 4/27 - 1
13-32899269-G-T c.373G>T p.Asp125Tyr Missense 4/27 - 1
13-32899270-A-G c.374A>G p.Asp125Gly Missense 4/27 - 2
13-32899275-G-T c.379G>T p.Ala127Ser Missense 4/27 - 1
13-32899275-G-A c.379G>A p.Ala127Thr Missense 4/27 - 1
13-32899276-C-T c.380C>T p.Ala127Val Missense 4/27 - 1
13-32899276-C-G c.380C>G p.Ala127Gly Missense 4/27 - 1
13-32899278-G-A c.382G>A p.Asp128Asn Missense 4/27 - 1
13-32899279-A-G c.383A>G p.Asp128Gly Missense 4/27 - 2
13-32899281-G-T c.385G>T p.Asp129Tyr Missense 4/27 - 1
13-32899282-A-G c.386A>G p.Asp129Gly Missense 4/27 - 1
13-32899284-G-A c.388G>A p.Val130Ile Missense 4/27 - 1
13-32899285-T-C c.389T>C p.Val130Ala Missense 4/27 - 1
13-32899285-GTTTCCTGTCCACTTCTAA-G c.389_406del p.Val130_Asn136delinsAsp MultiAAMissense 4/27 - 1
13-32899290-T-A c.394T>A p.Cys132Ser Missense 4/27 - 1
13-32899291-G-C c.395G>C p.Cys132Ser Missense 4/27 - 1
13-32899291-G-A c.395G>A p.Cys132Tyr Missense 4/27 - 1
13-32899292-T-A c.396T>A p.Cys132* Nonsense 4/27 - 2
13-32899293-C-T c.397C>T p.Pro133Ser Missense 4/27 - 1
13-32899294-CA-AT c.398_399delinsAT p.Pro133His Missense 4/27 - 1
13-32899296-C-T c.400C>T p.Leu134Phe Missense 4/27 - 1
13-32899297-CTT-C c.401_402del p.Leu134Profs*6 Frameshift 4/27 - 1
13-32899301-TAAATTCTTGTCT-T c.405_416del p.Asn136_Leu139del InFrameDeletion 4/27 - 1
13-32899303-AA-A c.407del p.Asn136Ilefs*16 Frameshift 4/27 - 2
13-32899311-C-A c.415C>A p.Leu139Ile Missense 4/27 - 1
13-32899312-T-C c.416T>C p.Leu139Pro Missense 4/27 - 1
13-32899315-G-T c.419G>T p.Ser140Ile Missense 4/27 - 1
13-32899315-G-A c.419G>A p.Ser140Asn Missense 4/27 - 1
13-32899315-G-C c.419G>C p.Ser140Thr Missense 4/27 - 1
13-32899319-A-AT c.423_424insT p.Ser142* SpliceDonorInsertion 4/27 - 1
13-32899319-A-AC c.423_424insC p.Ser142Glnfs*16 SpliceDonorInsertion 4/27 - 1
13-32899319-A-AG c.423_424insG p.Ser142Glufs*16 SpliceDonorInsertion 4/27 - 1
13-32899320-A-AA c.424dup p.Ser142Lysfs*16 SpliceDonorInsertion 4/27 - 1
13-32899321-G-A c.425G>A p.Ser142Asn Missense 4/27 - 2
13-32899321-G-T c.425G>T p.Ser142Ile Missense 4/27 - 5
13-32899322-GG-G c.425+1del - Frameshift - 4/26 1
13-32899323-T-A c.425+2T>A - IntronicSNV - 4/26 1
13-32899323-T-C c.425+2T>C - IntronicSNV - 4/26 3
13-32899350-T-C c.425+29T>C - IntronicSNV - 4/26 1
13-32899354-A-G c.425+33A>G - IntronicSNV - 4/26 2
13-32899388-A-C c.425+67A>C - IntronicSNV - 4/26 9
13-32899468-G-C c.425+147G>C - IntronicSNV - 4/26 1
13-32899468-G-T c.425+147G>T - IntronicSNV - 4/26 1
13-32899567-G-A c.425+246G>A - IntronicSNV - 4/26 1
13-32899567-G-C c.425+246G>C - IntronicSNV - 4/26 2
13-32899685-G-C c.425+364G>C - IntronicSNV - 4/26 1
13-32899838-C-T c.426-400C>T - IntronicSNV - 4/26 1
13-32900149-T-C c.426-89T>C - IntronicSNV - 4/26 8
13-32900181-A-G c.426-57A>G - IntronicSNV - 4/26 1
13-32900201-T-A c.426-37T>A - IntronicSNV - 4/26 3
13-32900226-TGTTTT-T c.426-12_426-8del - IntronicDeletion - 4/26 1
13-32900236-A-G c.426-2A>G - IntronicSNV - 4/26 1
13-32900236-A-T c.426-2A>T - IntronicSNV - 4/26 1
13-32900238-T-TT c.426dup p.Pro143Serfs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900238-GT-G c.426del p.Pro143Leufs*9 Frameshift 5/27 - 1
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAG-G c.426_475del p.Pro143Glyfs*23 Unclassified 5/27 - 1
13-32900238-GTCCTGTTGTTCTACAATGTACACATGTAACACCACAAAGAGATAAGTCAGGTATGATTA-G c.426_475+9del - Unclassified 5/27 5/26 1
13-32900238-T-TA c.426_427insA p.Pro143Thrfs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900238-T-TG c.426_427insG p.Pro143Alafs*15 SpliceAcceptorInsertion 5/27 - 1
13-32900240-C-T c.428C>T p.Pro143Leu Missense 5/27 - 1
13-32900240-C-CC c.428dup p.Val144Cysfs*14 Frameshift 5/27 - 1
13-32900242-G-T c.430G>T p.Val144Phe Missense 5/27 - 1
13-32900245-TGTT-T c.433_435del p.Val145del InFrameDeletion 5/27 - 3
13-32900248-C-G c.436C>G p.Leu146Val Missense 5/27 - 1
13-32900250-A-G c.438A>G p.Leu146Leu Synonymous 5/27 - 1
13-32900251-C-T c.439C>T p.Gln147* Nonsense 5/27 - 3
13-32900252-A-T c.440A>T p.Gln147Leu Missense 5/27 - 1
13-32900252-A-G c.440A>G p.Gln147Arg Missense 5/27 - 14
13-32900254-T-C c.442T>C p.Cys148Arg Missense 5/27 - 1
13-32900256-T-A c.444T>A p.Cys148* Nonsense 5/27 - 1
13-32900257-A-C c.445A>C p.Thr149Pro Missense 5/27 - 1
13-32900257-A-G c.445A>G p.Thr149Ala Missense 5/27 - 1
13-32900263-GTA-ATG c.451_453delinsATG p.Val151Met Missense 5/27 - 1
13-32900264-T-C c.452T>C p.Val151Ala Missense 5/27 - 1
13-32900266-ACA-TGT c.454_456inv p.Thr152Cys Missense 5/27 - 1
13-32900266-A-G c.454A>G p.Thr152Ala Missense 5/27 - 1
13-32900267-C-A c.455C>A p.Thr152Lys Missense 5/27 - 3
13-32900273-A-G c.461A>G p.Gln154Arg Missense 5/27 - 1
13-32900274-AAA-A c.462_463del p.Asp156* Frameshift 5/27 - 5
13-32900276-G-A c.464G>A p.Arg155Lys Missense 5/27 - 1
13-32900276-G-C c.464G>C p.Arg155Thr Missense 5/27 - 2
13-32900276-AGAGAT-A c.464_468del p.Arg155Lysfs*26 Frameshift 5/27 - 4
13-32900277-A-AT c.465_466insT p.Asp156* Nonsense 5/27 - 1
13-32900278-AGA-A c.466_467del p.Asp156* Frameshift 5/27 - 2
13-32900278-GAT-TAA c.466_468delinsTAA p.Asp156* Nonsense 5/27 - 1
13-32900279-A-G c.467A>G p.Asp156Gly Missense 5/27 - 5
13-32900279-A-T c.467A>T p.Asp156Val Missense 5/27 - 1
13-32900279-A-C c.467A>C p.Asp156Ala Missense 5/27 - 1
13-32900280-T-TT c.468dup p.Lys157* Nonsense 5/27 - 3
13-32900280-T-G c.468T>G p.Asp156Glu Missense 5/27 - 2
13-32900281-TAA-T c.469_470del p.Lys157Valfs*25 Frameshift 5/27 - 6
13-32900281-A-T c.469A>T p.Lys157* Nonsense 5/27 - 2
13-32900282-AAGTCA-A c.470_474del p.Lys157Serfs*24 SpliceDonorDeletion 5/27 - 8
13-32900282-A-AA c.470dup p.Ser158Valfs*25 Frameshift 5/27 - 1
13-32900284-T-G c.472T>G p.Ser158Ala Missense 5/27 - 1
13-32900284-T-A c.472T>A p.Ser158Thr Missense 5/27 - 1
13-32900284-TCA-GAC c.472_474delinsGAC p.Ser158Asp Missense 5/27 - 1
13-32900285-C-T c.473C>T p.Ser158Leu Missense 5/27 - 1
13-32900285-C-A c.473C>A p.Ser158* Nonsense 5/27 - 2
13-32900286-A-AC c.474_475insC p.Val159Argfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AT c.474_475insT p.Val159Cysfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AA c.474dup p.Val159Serfs*24 SpliceDonorInsertion 5/27 - 1
13-32900287-G-A c.475G>A p.Val159Met Missense 5/27 - 12
13-32900287-G-C c.475G>C p.Val159Leu Missense 5/27 - 2
13-32900288-G-T c.475+1G>T - IntronicSNV - 5/26 3
13-32900288-G-A c.475+1G>A - IntronicSNV - 5/26 7
13-32900290-A-G c.475+3A>G - IntronicSNV - 5/26 1
13-32900355-A-G c.476-24A>G - IntronicSNV - 5/26 1
13-32900370-TT-T c.476-9del - IntronicDeletion - 5/26 1
13-32900376-C-A c.476-3C>A - IntronicSNV - 5/26 1
13-32900377-A-G c.476-2A>G - IntronicSNV - 5/26 7
13-32900378-G-A c.476-1G>A - IntronicSNV - 5/26 1
13-32900379-GTGGTATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAG-G c.476_516del p.Val159Glyfs*10 Unclassified 6/27 - 1
13-32900379-T-A c.476T>A p.Val159Glu Missense 6/27 - 1
13-32900379-T-C c.476T>C p.Val159Ala Missense 6/27 - 1
13-32900383-A-T c.480A>T p.Val160Val Synonymous 6/27 - 1
13-32900383-A-C c.480A>C p.Val160Val Synonymous 6/27 - 1
13-32900383-A-G c.480A>G p.Val160Val Synonymous 6/27 - 1
13-32900384-ATGTGGGAGTTTGTTTCATACACCAAAGTTTGTGAAGGTAAATATTCTACCTGGTTTATT-A c.482_516+24del - SpliceDonorDeletion 6/27 6/26 1
13-32900384-TG-AC c.481_482delinsAC p.Cys161Thr Missense 6/27 - 1
13-32900385-G-A c.482G>A p.Cys161Tyr Missense 6/27 - 2
13-32900386-T-G c.483T>G p.Cys161Trp Missense 6/27 - 3
13-32900386-T-A c.483T>A p.Cys161* Nonsense 6/27 - 1
13-32900388-G-A c.485G>A p.Gly162Glu Missense 6/27 - 2
13-32900388-G-T c.485G>T p.Gly162Val Missense 6/27 - 1
13-32900389-GG-G c.486del p.Ser163Valfs*9 Frameshift 6/27 - 1
13-32900390-GAG-G c.487_488del p.Ser163Phefs*19 Frameshift 6/27 - 1
13-32900391-AGT-A c.488_489del p.Ser163Ilefs*19 Frameshift 6/27 - 1
13-32900391-G-A c.488G>A p.Ser163Asn Missense 6/27 - 1
13-32900393-T-TAAATGCTT c.490_491insAAATGCTT p.Leu164* Nonsense 6/27 - 1
13-32900394-T-A c.491T>A p.Leu164* Nonsense 6/27 - 1
13-32900395-G-T c.492G>T p.Leu164Phe Missense 6/27 - 1
13-32900397-TTTCATA-T c.494_499del p.Phe165_Thr167delinsSer MultiAAMissense 6/27 - 1
13-32900399-C-T c.496C>T p.His166Tyr Missense 6/27 - 1
13-32900399-C-A c.496C>A p.His166Asn Missense 6/27 - 1
13-32900400-A-G c.497A>G p.His166Arg Missense 6/27 - 1
13-32900405-C-G c.502C>G p.Pro168Ala Missense 6/27 - 2
13-32900405-C-A c.502C>A p.Pro168Thr Missense 6/27 - 9
13-32900409-A-G c.506A>G p.Lys169Arg Missense 6/27 - 2
13-32900414-GTG-ATC c.511_513delinsATC p.Val171Ile Missense 6/27 - 1
13-32900417-A-C c.514A>C p.Lys172Gln Missense 6/27 - 1
13-32900419-G-A c.516G>A p.Lys172Lys Synonymous 6/27 - 3
13-32900420-G-T c.516+1G>T - IntronicSNV - 6/26 8
13-32900420-G-C c.516+1G>C - IntronicSNV - 6/26 3
13-32900420-G-A c.516+1G>A - IntronicSNV - 6/26 4
13-32900421-T-C c.516+2T>C - IntronicSNV - 6/26 1
13-32900422-A-T c.516+3A>T - IntronicSNV - 6/26 1
13-32900433-C-T c.516+14C>T - IntronicSNV - 6/26 4
13-32900437-T-C c.516+18T>C - IntronicSNV - 6/26 2
13-32900437-T-G c.516+18T>G - IntronicSNV - 6/26 1
13-32900440-A-T c.516+21A>T - IntronicSNV - 6/26 2
13-32900473-T-C c.516+54T>C - IntronicSNV - 6/26 2
13-32900477-G-A c.516+58G>A - IntronicSNV - 6/26 1
13-32900616-A-G c.517-20A>G - IntronicSNV - 6/26 1
13-32900617-C-T c.517-19C>T - IntronicSNV - 6/26 5
13-32900625-T-C c.517-11T>C - IntronicSNV - 6/26 1
13-32900632-C-G c.517-4C>G - IntronicSNV - 6/26 1
13-32900634-A-G c.517-2A>G - IntronicSNV - 6/26 8
13-32900635-G-A c.517-1G>A - IntronicSNV - 6/26 3
13-32900636-G-T c.517G>T p.Gly173Cys Missense 7/27 - 3
13-32900637-GG-G c.518del p.Gly173Valfs*12 Frameshift 7/27 - 3
13-32900637-G-T c.518G>T p.Gly173Val Missense 7/27 - 5
13-32900639-C-T c.520C>T p.Arg174Cys Missense 7/27 - 5
13-32900640-G-A c.521G>A p.Arg174His Missense 7/27 - 4
13-32900641-T-G c.522T>G p.Arg174Arg Synonymous 7/27 - 2
13-32900641-T-A c.522T>A p.Arg174Arg Synonymous 7/27 - 1
13-32900641-T-C c.522T>C p.Arg174Arg Synonymous 7/27 - 1
13-32900646-CA-TG c.527_528inv p.Thr176Met Missense 7/27 - 1
13-32900651-A-C c.532A>C p.Lys178Gln Missense 7/27 - 2
13-32900652-A-G c.533A>G p.Lys178Arg Missense 7/27 - 2
13-32900653-A-AA c.534dup p.His179Thrfs*4 Frameshift 7/27 - 2
13-32900653-A-G c.534A>G p.Lys178Lys Synonymous 7/27 - 2
13-32900655-A-G c.536A>G p.His179Arg Missense 7/27 - 4
13-32900657-TAT-T c.538_539del p.Ile180Phefs*2 Frameshift 7/27 - 1
13-32900658-T-C c.539T>C p.Ile180Thr Missense 7/27 - 3
13-32900658-T-TA c.539_540insA p.Ser181Phefs*2 Frameshift 7/27 - 1
13-32900660-TCT-GAG c.541_543delinsGAG p.Ser181Glu Missense 7/27 - 1
13-32900664-A-G c.545A>G p.Glu182Gly Missense 7/27 - 2
13-32900666-AA-A c.547del p.Ser183Valfs*2 Frameshift 7/27 - 1
13-32900668-T-C c.549T>C p.Ser183Ser Synonymous 7/27 - 2
13-32900669-CTA-TGG c.550_552delinsTGG p.Leu184Trp Missense 7/27 - 2
13-32900670-T-C c.551T>C p.Leu184Pro Missense 7/27 - 4
13-32900672-G-C c.553G>C p.Gly185Arg Missense 7/27 - 1
13-32900672-G-A c.553G>A p.Gly185Arg Missense 7/27 - 1
13-32900673-G-C c.554G>C p.Gly185Ala Missense 7/27 - 1
13-32900673-GG-G c.554del p.Gly185Glufs*14 Frameshift 7/27 - 1
13-32900675-G-C c.556G>C p.Ala186Pro Missense 7/27 - 1
13-32900676-C-A c.557C>A p.Ala186Asp Missense 7/27 - 1
13-32900678-G-A c.559G>A p.Glu187Lys Missense 7/27 - 3
13-32900680-G-T c.561G>T p.Glu187Asp Missense 7/27 - 1
13-32900683-G-T c.564G>T p.Val188Val Synonymous 7/27 - 1
13-32900687-C-G c.568C>G p.Pro190Ala Missense 7/27 - 1
13-32900688-C-T c.569C>T p.Pro190Leu Missense 7/27 - 1
13-32900690-G-C c.571G>C p.Asp191His Missense 7/27 - 1
13-32900691-A-G c.572A>G p.Asp191Gly Missense 7/27 - 1
13-32900691-A-T c.572A>T p.Asp191Val Missense 7/27 - 4
13-32900692-T-C c.573T>C p.Asp191Asp Synonymous 7/27 - 2
13-32900693-TAT-T c.574_575del p.Met192Valfs*13 Frameshift 7/27 - 3
13-32900694-T-C c.575T>C p.Met192Thr Missense 7/27 - 6
13-32900696-T-G c.577T>G p.Ser193Ala Missense 7/27 - 3
13-32900700-G-C c.581G>C p.Trp194Ser Missense 7/27 - 1
13-32900701-G-A c.582G>A p.Trp194* Nonsense 7/27 - 10
13-32900700-G-A c.581G>A p.Trp194* Nonsense 7/27 - 9
13-32900703-C-G c.584C>G p.Ser195* Nonsense 7/27 - 1
13-32900705-AG-CT c.586_587inv p.Ser196Leu Missense 7/27 - 1
13-32900706-G-T c.587G>T p.Ser196Ile Missense 7/27 - 5
13-32900706-G-A c.587G>A p.Ser196Asn Missense 7/27 - 4
13-32900706-G-C c.587G>C p.Ser196Thr Missense 7/27 - 1
13-32900711-T-C c.592T>C p.Leu198Leu Synonymous 7/27 - 1
13-32900713-A-G c.594A>G p.Leu198Leu Synonymous 7/27 - 1
13-32900714-G-A c.595G>A p.Ala199Thr Missense 7/27 - 3
13-32900714-G-C c.595G>C p.Ala199Pro Missense 7/27 - 1
13-32900715-C-T c.596C>T p.Ala199Val Missense 7/27 - 1
13-32900718-C-A c.599C>A p.Thr200Lys Missense 7/27 - 3
13-32900718-C-T c.599C>T p.Thr200Ile Missense 7/27 - 7
13-32900719-A-AA c.600dup p.Pro201Thrfs*5 Frameshift 7/27 - 1
13-32900721-C-G c.602C>G p.Pro201Arg Missense 7/27 - 2
13-32900723-C-G c.604C>G p.Pro202Ala Missense 7/27 - 1
13-32900724-C-T c.605C>T p.Pro202Leu Missense 7/27 - 1
13-32900726-AC-TT c.607_608delinsTT p.Thr203Phe Missense 7/27 - 1
13-32900726-AC-TA c.607_608delinsTA p.Thr203Tyr Missense 7/27 - 1
13-32900729-CC-C c.610del p.Ser205Valfs*6 Frameshift 7/27 - 2
13-32900732-TAG-T c.613_614del p.Ser205Phefs*9 Frameshift 7/27 - 1
13-32900733-AG-A c.614del p.Ser205Ilefs*6 Frameshift 7/27 - 2
13-32900736-C-G c.617C>G p.Ser206Cys Missense 7/27 - 3
13-32900738-AC-GA c.619_620delinsGA p.Thr207Asp Missense 7/27 - 1
13-32900738-A-G c.619A>G p.Thr207Ala Missense 7/27 - 6
13-32900739-C-T c.620C>T p.Thr207Ile Missense 7/27 - 4
13-32900741-GTG-ATC c.622_624delinsATC p.Val208Ile Missense 7/27 - 1
13-32900742-T-G c.623T>G p.Val208Gly Missense 7/27 - 8
13-32900744-C-T c.625C>T p.Leu209Phe Missense 7/27 - 2
13-32900746-C-T c.627C>T p.Leu209Leu Synonymous 7/27 - 2
13-32900746-C-A c.627C>A p.Leu209Leu Synonymous 7/27 - 2
13-32900746-C-G c.627C>G p.Leu209Leu Synonymous 7/27 - 1
13-32900750-G-C c.631G>C p.Val211Leu Missense 7/27 - 4
13-32900750-G-A c.631G>A p.Val211Ile Missense 7/27 - 13
13-32900751-G-A c.631+1G>A - IntronicSNV - 7/26 3
13-32900752-T-G c.631+2T>G - IntronicSNV - 7/26 10
13-32900753-A-G c.631+3A>G - IntronicSNV - 7/26 3
13-32900754-A-G c.631+4A>G - IntronicSNV - 7/26 3
13-32900775-C-T c.631+25C>T - IntronicSNV - 7/26 2
13-32900933-T-A c.631+183T>A - IntronicSNV - 7/26 8
13-32901430-A-C c.631+680A>C - IntronicSNV - 7/26 1
13-32902067-A-G c.631+1317A>G - IntronicSNV - 7/26 1
13-32903511-T-C c.632-69T>C - IntronicSNV - 7/26 1
13-32903516-G-A c.632-64G>A - IntronicSNV - 7/26 1
13-32903553-C-G c.632-27C>G - IntronicSNV - 7/26 1
13-32903564-A-C c.632-16A>C - IntronicSNV - 7/26 1
13-32903570-T-TT c.632-10dup - IntronicInsertion - 7/26 1
13-32903571-A-G c.632-9A>G - IntronicSNV - 7/26 1
13-32903575-T-C c.632-5T>C - IntronicSNV - 7/26 1
13-32903577-C-G c.632-3C>G - IntronicSNV - 7/26 1
13-32903578-A-G c.632-2A>G - IntronicSNV - 7/26 1
13-32903579-G-A c.632-1G>A - IntronicSNV - 7/26 4
13-32903579-G-C c.632-1G>C - IntronicSNV - 7/26 1
13-32903579-G-T c.632-1G>T - IntronicSNV - 7/26 1
13-32903581-C-T c.633C>T p.Val211Val Synonymous 8/27 - 2
13-32903581-TC-T c.633del p.Arg212Glufs*18 Frameshift 8/27 - 1
13-32903581-C-CC c.633dup p.Arg212Glnfs*3 SpliceAcceptorInsertion 8/27 - 1
13-32903582-AGA-TGT c.634_636delinsTGT p.Arg212Cys Missense 8/27 - 1
13-32903582-AGA-TGG c.634_636delinsTGG p.Arg212Trp Missense 8/27 - 1
13-32903583-AGA-A c.635_636del p.Arg212Lysfs*2 Frameshift 8/27 - 3
13-32903592-GAAG-G c.644_646del p.Glu215del InFrameDeletion 8/27 - 2
13-32903594-AG-A c.646del p.Ala216Hisfs*14 Frameshift 8/27 - 1
13-32903595-C-T c.647C>T p.Ala216Val Missense 8/27 - 1
13-32903596-A-G c.648A>G p.Ala216Ala Synonymous 8/27 - 1
13-32903597-TC-CT c.649_650delinsCT p.Ser217Leu Missense 8/27 - 1
13-32903598-C-A c.650C>A p.Ser217Tyr Missense 8/27 - 1
13-32903605-CT-C c.657del p.Val220Tyrfs*10 Frameshift 8/27 - 2
13-32903606-TGT-T c.658_659del p.Val220Ilefs*4 Frameshift 8/27 - 51
13-32903606-G-A c.658G>A p.Val220Ile Missense 8/27 - 2
13-32903606-GTA-ATG c.658_660delinsATG p.Val220Met Missense 8/27 - 1
13-32903612-C-A c.664C>A p.Pro222Thr Missense 8/27 - 1
13-32903614-T-TA c.666_667insA p.His223Thrfs*2 Frameshift 8/27 - 1
13-32903621-A-G c.673A>G p.Thr225Ala Missense 8/27 - 5
13-32903622-CT-AG c.674_675inv p.Thr225Lys Missense 8/27 - 1
13-32903622-C-T c.674C>T p.Thr225Ile Missense 8/27 - 1
13-32903627-G-A c.679G>A p.Ala227Thr Missense 8/27 - 2
13-32903628-C-T c.680C>T p.Ala227Val Missense 8/27 - 2
13-32903630-G-A c.681+1G>A - IntronicSNV - 8/26 2
13-32903631-T-TT c.681+2dup - IntronicInsertion - 8/26 1
13-32903633-A-G c.681+4A>G - IntronicSNV - 8/26 1
13-32903634-G-C c.681+5G>C - IntronicSNV - 8/26 1
13-32903685-C-G c.681+56C>G - IntronicSNV - 8/26 18
13-32903685-C-T c.681+56C>T - IntronicSNV - 8/26 22
13-32903726-TGT-T c.681+97_681+98del - IntronicDeletion - 8/26 1
13-32905024-A-G c.682-32A>G - IntronicSNV - 8/26 1
13-32905026-A-C c.682-30A>C - IntronicSNV - 8/26 1
13-32905044-ATA-A c.682-12_682-11del - IntronicDeletion - 8/26 1
13-32905044-AT-A c.682-12del - IntronicDeletion - 8/26 2
13-32905047-T-C c.682-9T>C - IntronicSNV - 8/26 1
13-32905054-A-C c.682-2A>C - IntronicSNV - 8/26 1
13-32905054-A-G c.682-2A>G - IntronicSNV - 8/26 1
13-32905055-G-C c.682-1G>C - IntronicSNV - 8/26 1
13-32905056-GAATGTGAAAAGCTATTTTTCCAATCATGATGAAAGTCTGAAGAAAAATGATAGATTTAT-G c.682_740del p.Asn228Argfs*7 Unclassified 9/27 - 1
13-32905064-AAA-A c.690_691del p.Ser231Leufs*6 Frameshift 9/27 - 1
13-32905065-AG-CC c.691_692delinsCC p.Ser231Pro Missense 9/27 - 1
13-32905065-A-C c.691A>C p.Ser231Arg Missense 9/27 - 1
13-32905067-C-A c.693C>A p.Ser231Arg Missense 9/27 - 1
13-32905067-C-G c.693C>G p.Ser231Arg Missense 9/27 - 1
13-32905068-TA-GC c.694_695delinsGC p.Tyr232Ala Missense 9/27 - 1
13-32905069-A-G c.695A>G p.Tyr232Cys Missense 9/27 - 2
13-32905071-T-G c.697T>G p.Phe233Val Missense 9/27 - 1
13-32905074-TT-T c.700del p.Ser234Profs*7 Frameshift 9/27 - 6
13-32905081-A-G c.707A>G p.His236Arg Missense 9/27 - 1
13-32905082-T-C c.708T>C p.His236His Synonymous 9/27 - 1
13-32905084-A-G c.710A>G p.Asp237Gly Missense 9/27 - 2
13-32905086-G-T c.712G>T p.Glu238* Nonsense 9/27 - 2
13-32905103-ATGAT-A c.729_732del p.Asn243Lysfs*7 Frameshift 9/27 - 1
13-32905104-G-A c.730G>A p.Asp244Asn Missense 9/27 - 1
13-32905104-TGATAGATTTAT-T c.730_740del p.Asp244Argfs*7 Frameshift 9/27 - 1
13-32905106-ATA-A c.732_733del p.Asp244Glufs*10 Frameshift 9/27 - 1
13-32905106-ATAGATTTATCGCTTCTGTGACAGA-A c.732_755del p.Arg245_Asp252del InFrameDeletion 9/27 - 1
13-32905108-G-A c.734G>A p.Arg245Lys Missense 9/27 - 1
13-32905109-A-T c.735A>T p.Arg245Ser Missense 9/27 - 1
13-32905109-A-C c.735A>C p.Arg245Ser Missense 9/27 - 1
13-32905110-T-G c.736T>G p.Phe246Val Missense 9/27 - 1
13-32905110-ATTT-A c.736_738del p.Phe246del InFrameDeletion 9/27 - 1
13-32905110-ATTTATCGCTTCTGTGACAGA-A c.736_755del p.Phe246Glnfs*2 Frameshift 9/27 - 1
13-32905111-T-G c.737T>G p.Phe246Cys Missense 9/27 - 1
13-32905112-TT-T c.738del p.Phe246Leufs*5 Frameshift 9/27 - 2
13-32905113-TAT-T c.739_740del p.Ile247Argfs*7 Frameshift 9/27 - 1
13-32905113-A-G c.739A>G p.Ile247Val Missense 9/27 - 1
13-32905113-A-AA c.739dup p.Ile247Asnfs*8 Frameshift 9/27 - 1
13-32905114-ATCGCTTCTGTGACAGACAGTGAAA-A c.740_763del p.Ile247_Glu254del InFrameDeletion 9/27 - 1
13-32905115-C-T c.741C>T p.Ile247Ile Synonymous 9/27 - 1
13-32905115-C-A c.741C>A p.Ile247Ile Synonymous 9/27 - 1
13-32905116-G-A c.742G>A p.Ala248Thr Missense 9/27 - 5
13-32905117-C-G c.743C>G p.Ala248Gly Missense 9/27 - 1
13-32905119-T-C c.745T>C p.Ser249Pro Missense 9/27 - 1
13-32905120-C-G c.746C>G p.Ser249Cys Missense 9/27 - 1
13-32905122-G-C c.748G>C p.Val250Leu Missense 9/27 - 1
13-32905126-C-T c.752C>T p.Thr251Ile Missense 9/27 - 1
13-32905126-C-G c.752C>G p.Thr251Arg Missense 9/27 - 1
13-32905127-A-AT c.753_754insT p.Asp252* Nonsense 9/27 - 1
13-32905128-G-A c.754G>A p.Asp252Asn Missense 9/27 - 1
13-32905128-GA-CT c.754_755delinsCT p.Asp252Leu Missense 9/27 - 1
13-32905129-GA-G c.755del p.Asp252Alafs*25 Frameshift 9/27 - 4
13-32905129-GACAG-G c.755_758del p.Asp252Valfs*24 Frameshift 9/27 - 19
13-32905130-ACAGT-A c.756_759del p.Asp252Glufs*24 Frameshift 9/27 - 2
13-32905139-ACACAA-A c.765_769del p.Asn255Lysfs*19 Frameshift 9/27 - 1
13-32905141-ACA-A c.767_768del p.Thr256Lysfs*19 Frameshift 9/27 - 2
13-32905142-A-AT c.768_769insT p.Asn257* Nonsense 9/27 - 2
13-32905143-A-C c.769A>C p.Asn257His Missense 9/27 - 2
13-32905145-AT-A c.771del p.Gln258Lysfs*19 Frameshift 9/27 - 1
13-32905145-ATCAAA-A c.771_775del p.Asn257Lysfs*17 Frameshift 9/27 - 31
13-32905146-C-T c.772C>T p.Gln258* Nonsense 9/27 - 3
13-32905148-AAA-A c.774_775del p.Glu260Serfs*15 Frameshift 9/27 - 6
13-32905149-A-T c.775A>T p.Arg259* Nonsense 9/27 - 3
13-32905149-AGA-TGG c.775_777delinsTGG p.Arg259Trp Missense 9/27 - 1
13-32905151-A-AT c.777_778insT p.Glu260* Nonsense 9/27 - 1
13-32905152-AGA-A c.778_779del p.Glu260Serfs*15 Frameshift 9/27 - 3
13-32905157-CT-C c.783del p.Ala262Glnfs*15 Frameshift 9/27 - 1
13-32905158-TG-T c.784del p.Ala262Glnfs*15 Frameshift 9/27 - 1
13-32905158-G-A c.784G>A p.Ala262Thr Missense 9/27 - 1
13-32905159-C-T c.785C>T p.Ala262Val Missense 9/27 - 4
13-32905164-CA-TT c.790_791delinsTT p.His264Phe Missense 9/27 - 1
13-32905166-T-G c.792T>G p.His264Gln Missense 9/27 - 1
13-32905168-GG-G c.793+1del - IntronicDeletion - 9/26 2
13-32905168-G-T c.793+1G>T - IntronicSNV - 9/26 1
13-32905201-T-G c.793+34T>G - IntronicSNV - 9/26 1
13-32905265-G-A c.793+98G>A - IntronicSNV - 9/26 1
13-32905265-G-T c.793+98G>T - IntronicSNV - 9/26 1
13-32905265-G-C c.793+98G>C - IntronicSNV - 9/26 1
13-32905628-C-A c.793+461C>A - IntronicSNV - 9/26 1
13-32905628-C-T c.793+461C>T - IntronicSNV - 9/26 1
13-32905998-A-G c.794-411A>G - IntronicSNV - 9/26 1
13-32906387-C-T c.794-22C>T - IntronicSNV - 9/26 1
13-32906398-T-C c.794-11T>C - IntronicSNV - 9/26 1
13-32906411-T-C c.796T>C p.Phe266Leu Missense 10/27 - 2
13-32906411-TT-GC c.796_797delinsGC p.Phe266Ala Missense 10/27 - 1
13-32906412-T-A c.797T>A p.Phe266Tyr Missense 10/27 - 1
13-32906412-T-G c.797T>G p.Phe266Cys Missense 10/27 - 1
13-32906412-TTT-T c.797_798del p.Phe266Trpfs*9 Frameshift 10/27 - 1
13-32906414-G-T c.799G>T p.Gly267* Nonsense 10/27 - 1
13-32906415-G-A c.800G>A p.Gly267Glu Missense 10/27 - 4
13-32906415-G-GG c.800dup p.Thr269Asnfs*7 Frameshift 10/27 - 1
13-32906420-A-T c.805A>T p.Thr269Ser Missense 10/27 - 1
13-32906422-A-G c.807A>G p.Thr269Thr Synonymous 10/27 - 1
13-32906422-A-T c.807A>T p.Thr269Thr Synonymous 10/27 - 1
13-32906424-C-G c.809C>G p.Ser270* Nonsense 10/27 - 3
13-32906426-G-A c.811G>A p.Gly271Arg Missense 10/27 - 2
13-32906429-A-C c.814A>C p.Asn272His Missense 10/27 - 1
13-32906430-A-T c.815A>T p.Asn272Ile Missense 10/27 - 1
13-32906433-C-G c.818C>G p.Ser273* Nonsense 10/27 - 3
13-32906433-C-T c.818C>T p.Ser273Leu Missense 10/27 - 1
13-32906433-C-A c.818C>A p.Ser273* Nonsense 10/27 - 2
13-32906441-GTA-ATG c.826_828delinsATG p.Val276Met Missense 10/27 - 1
13-32906444-A-C c.829A>C p.Asn277His Missense 10/27 - 1
13-32906446-T-C c.831T>C p.Asn277Asn Synonymous 10/27 - 2
13-32906446-T-G c.831T>G p.Asn277Lys Missense 10/27 - 7
13-32906447-A-G c.832A>G p.Ser278Gly Missense 10/27 - 1
13-32906448-G-A c.833G>A p.Ser278Asn Missense 10/27 - 1
13-32906450-TG-GC c.835_836delinsGC p.Cys279Ala Missense 10/27 - 1
13-32906452-C-T c.837C>T p.Cys279Cys Synonymous 10/27 - 1
13-32906453-A-T c.838A>T p.Lys280* Nonsense 10/27 - 1
13-32906456-G-C c.841G>C p.Asp281His Missense 10/27 - 1
13-32906456-G-A c.841G>A p.Asp281Asn Missense 10/27 - 2
13-32906456-G-T c.841G>T p.Asp281Tyr Missense 10/27 - 3
13-32906457-A-T c.842A>T p.Asp281Val Missense 10/27 - 1
13-32906457-A-C c.842A>C p.Asp281Ala Missense 10/27 - 1
13-32906457-A-G c.842A>G p.Asp281Gly Missense 10/27 - 1
13-32906458-C-A c.843C>A p.Asp281Glu Missense 10/27 - 2
13-32906458-ACCAC-A c.843_846del p.Asp281Glufs*10 Frameshift 10/27 - 1
13-32906459-C-G c.844C>G p.His282Asp Missense 10/27 - 1
13-32906459-C-T c.844C>T p.His282Tyr Missense 10/27 - 2
13-32906460-A-ATTTGG c.845_846insTTTGG p.Ile283Leufs*11 Frameshift 10/27 - 1
13-32906461-ACA-A c.846_847del p.Ile283Trpfs*11 Frameshift 10/27 - 1
13-32906462-A-G c.847A>G p.Ile283Val Missense 10/27 - 1
13-32906464-T-TT c.849dup p.Gly284Trpfs*11 Frameshift 10/27 - 1
13-32906465-GGA-TGG c.850_852delinsTGG p.Gly284Trp Missense 10/27 - 1
13-32906465-G-A c.850G>A p.Gly284Arg Missense 10/27 - 1
13-32906466-G-A c.851G>A p.Gly284Glu Missense 10/27 - 1
13-32906471-T-G c.856T>G p.Ser286Ala Missense 10/27 - 2
13-32906471-T-C c.856T>C p.Ser286Pro Missense 10/27 - 3
13-32906472-CA-TT c.857_858delinsTT p.Ser286Phe Missense 10/27 - 1
13-32906472-C-G c.857C>G p.Ser286* Nonsense 10/27 - 1
13-32906474-A-G c.859A>G p.Met287Val Missense 10/27 - 1
13-32906477-C-T c.862C>T p.Pro288Ser Missense 10/27 - 1
13-32906478-CC-C c.863del p.Pro288Glnfs*4 Frameshift 10/27 - 1
13-32906480-A-C c.865A>C p.Asn289His Missense 10/27 - 89
13-32906480-A-G c.865A>G p.Asn289Asp Missense 10/27 - 33
13-32906482-T-A c.867T>A p.Asn289Lys Missense 10/27 - 1
13-32906482-T-G c.867T>G p.Asn289Lys Missense 10/27 - 1
13-32906483-GTC-ATG c.868_870delinsATG p.Val290Met Missense 10/27 - 1
13-32906483-G-A c.868G>A p.Val290Ile Missense 10/27 - 1
13-32906484-T-C c.869T>C p.Val290Ala Missense 10/27 - 1
13-32906489-G-A c.874G>A p.Glu292Lys Missense 10/27 - 1
13-32906495-G-T c.880G>T p.Glu294* Nonsense 10/27 - 3
13-32906496-A-T c.881A>T p.Glu294Val Missense 10/27 - 1
13-32906496-A-G c.881A>G p.Glu294Gly Missense 10/27 - 1
13-32906496-A-C c.881A>C p.Glu294Ala Missense 10/27 - 1
13-32906497-A-T c.882A>T p.Glu294Asp Missense 10/27 - 1
13-32906497-A-C c.882A>C p.Glu294Asp Missense 10/27 - 1
13-32906502-A-G c.887A>G p.Tyr296Cys Missense 10/27 - 4
13-32906503-T-A c.888T>A p.Tyr296* Nonsense 10/27 - 1
13-32906504-G-A c.889G>A p.Glu297Lys Missense 10/27 - 1
13-32906505-A-G c.890A>G p.Glu297Gly Missense 10/27 - 1
13-32906507-AACAGTTGTA-A c.892_900del p.Thr298_Val300del InFrameDeletion 10/27 - 1
13-32906507-A-AT c.892_893insT p.Thr298Ilefs*7 Frameshift 10/27 - 1
13-32906510-GTT-ATG c.895_897delinsATG p.Val299Met Missense 10/27 - 1
13-32906512-T-TT c.897dup p.Val300Cysfs*5 Frameshift 10/27 - 1
13-32906514-T-A c.899T>A p.Val300Glu Missense 10/27 - 1
13-32906517-A-G c.902A>G p.Asp301Gly Missense 10/27 - 1
13-32906519-A-AA c.904dup p.Thr302Asnfs*3 Frameshift 10/27 - 1
13-32906520-C-A c.905C>A p.Thr302Asn Missense 10/27 - 1
13-32906520-C-T c.905C>T p.Thr302Ile Missense 10/27 - 1
13-32906520-C-G c.905C>G p.Thr302Ser Missense 10/27 - 1
13-32906520-C-CA c.905_906insA p.Ser303Leufs*2 Frameshift 10/27 - 1
13-32906525-G-T c.910G>T p.Glu304* Nonsense 10/27 - 1
13-32906525-G-A c.910G>A p.Glu304Lys Missense 10/27 - 1
13-32906528-G-A c.913G>A p.Glu305Lys Missense 10/27 - 1
13-32906529-GAA-G c.914_915del p.Glu305Glyfs*2 Frameshift 10/27 - 1
13-32906532-A-C c.917A>C p.Asp306Ala Missense 10/27 - 1
13-32906532-GATAG-G c.917_920del p.Asp306Valfs*17 Frameshift 10/27 - 1
13-32906532-A-T c.917A>T p.Asp306Val Missense 10/27 - 1
13-32906533-T-C c.918T>C p.Asp306Asp Synonymous 10/27 - 1
13-32906534-AG-TT c.919_920delinsTT p.Ser307Phe Missense 10/27 - 1
13-32906535-G-A c.920G>A p.Ser307Asn Missense 10/27 - 1
13-32906539-T-G c.924T>G p.Phe308Leu Missense 10/27 - 1
13-32906539-T-A c.924T>A p.Phe308Leu Missense 10/27 - 1
13-32906537-T-C c.922T>C p.Phe308Leu Missense 10/27 - 1
13-32906539-TTT-T c.924_925del p.Ser309Ilefs*5 Frameshift 10/27 - 3
13-32906541-C-T c.926C>T p.Ser309Leu Missense 10/27 - 1
13-32906542-A-G c.927A>G p.Ser309Ser Synonymous 10/27 - 2
13-32906544-T-C c.929T>C p.Leu310Ser Missense 10/27 - 2
13-32906545-A-AA c.930dup p.Cys311Metfs*4 Frameshift 10/27 - 1
13-32906546-TG-AC c.931_932delinsAC p.Cys311Thr Missense 10/27 - 1
13-32906546-TG-GC c.931_932delinsGC p.Cys311Ala Missense 10/27 - 1
13-32906552-TC-GG c.937_938delinsGG p.Ser313Gly Missense 10/27 - 1
13-32906552-T-TT c.937dup p.Ser313Phefs*2 Frameshift 10/27 - 1
13-32906553-C-T c.938C>T p.Ser313Phe Missense 10/27 - 1
13-32906555-A-T c.940A>T p.Lys314* Nonsense 10/27 - 1
13-32906558-T-C c.943T>C p.Cys315Arg Missense 10/27 - 1
13-32906558-T-A c.943T>A p.Cys315Ser Missense 10/27 - 23
13-32906558-TG-GC c.943_944delinsGC p.Cys315Ala Missense 10/27 - 1
13-32906561-A-G c.946A>G p.Arg316Gly Missense 10/27 - 1
13-32906562-G-A c.947G>A p.Arg316Lys Missense 10/27 - 1
13-32906566-A-G c.951A>G p.Thr317Thr Synonymous 10/27 - 1
13-32906570-A-G c.955A>G p.Asn319Asp Missense 10/27 - 1
13-32906571-A-AA c.956dup p.Asn319Lysfs*8 Frameshift 10/27 - 8
13-32906571-A-G c.956A>G p.Asn319Ser Missense 10/27 - 6
13-32906571-A-C c.956A>C p.Asn319Thr Missense 10/27 - 9
13-32906572-T-A c.957T>A p.Asn319Lys Missense 10/27 - 1
13-32906572-T-G c.957T>G p.Asn319Lys Missense 10/27 - 1
13-32906573-TC-T c.958del p.Leu320Tyrfs*4 Frameshift 10/27 - 1
13-32906576-C-T c.961C>T p.Gln321* Nonsense 10/27 - 5
13-32906576-CA-TC c.961_962delinsTC p.Gln321Ser Missense 10/27 - 1
13-32906578-A-C c.963A>C p.Gln321His Missense 10/27 - 1
13-32906579-A-C c.964A>C p.Lys322Gln Missense 10/27 - 21
13-32906583-GTAAG-G c.968_971del p.Val323Glufs*25 Frameshift 10/27 - 1
13-32906584-A-AC c.969_970insC p.Arg324Glnfs*3 Frameshift 10/27 - 1
13-32906585-AGA-CAT c.970_972delinsCAT p.Arg324His Missense 10/27 - 1
13-32906586-G-A c.971G>A p.Arg324Lys Missense 10/27 - 1
13-32906586-G-C c.971G>C p.Arg324Thr Missense 10/27 - 4
13-32906591-A-AA c.976dup p.Ser326Lysfs*4 Frameshift 10/27 - 1
13-32906593-C-T c.978C>T p.Ser326Ser Synonymous 10/27 - 5
13-32906593-C-G c.978C>G p.Ser326Arg Missense 10/27 - 14
13-32906593-C-A c.978C>A p.Ser326Arg Missense 10/27 - 22
13-32906596-AGA-A c.981_982del p.Lys327Asnfs*2 Frameshift 10/27 - 1
13-32906598-ACTAG-A c.983_986del p.Thr328Argfs*20 Frameshift 10/27 - 1
13-32906598-C-T c.983C>T p.Thr328Ile Missense 10/27 - 1
13-32906600-AG-CC c.985_986delinsCC p.Arg329Pro Missense 10/27 - 1
13-32906600-AG-CA c.985_986delinsCA p.Arg329Gln Missense 10/27 - 1
13-32906600-AGG-TGT c.985_987delinsTGT p.Arg329Cys Missense 10/27 - 1
13-32906602-G-GT c.987_988insT p.Lys330* Nonsense 10/27 - 1
13-32906607-A-T c.992A>T p.Lys331Ile Missense 10/27 - 1
13-32906609-A-T c.994A>T p.Ile332Phe Missense 10/27 - 1
13-32906609-AA-A c.994del p.Ile332Phefs*17 Frameshift 10/27 - 5
13-32906609-A-AA c.994dup p.Ile332Asnfs*4 Frameshift 10/27 - 5
13-32906610-T-A c.995T>A p.Ile332Asn Missense 10/27 - 3
13-32906611-T-G c.996T>G p.Ile332Met Missense 10/27 - 1
13-32906613-TT-T c.998del p.Phe333Serfs*16 Frameshift 10/27 - 1
13-32906615-C-CC c.1000dup p.His334Profs*2 Frameshift 10/27 - 1
13-32906615-CC-C c.1000del p.His334Metfs*15 Frameshift 10/27 - 2
13-32906620-A-AATAA c.1005_1006insATAA p.Ala336Ilefs*5 Frameshift 10/27 - 1
13-32906621-G-A c.1006G>A p.Ala336Thr Missense 10/27 - 1
13-32906625-AA-A c.1010del p.Asn337Thrfs*12 Frameshift 10/27 - 1
13-32906625-A-ATG c.1010_1011insTG p.Asp339Leufs*11 Frameshift 10/27 - 1
13-32906626-C-T c.1011C>T p.Asn337Asn Synonymous 10/27 - 2
13-32906631-GA-G c.1016del p.Asp339Valfs*10 Frameshift 10/27 - 3
13-32906631-A-AA c.1016dup p.Asp339Glufs*2 Frameshift 10/27 - 5
13-32906633-G-T c.1018G>T p.Glu340* Nonsense 10/27 - 1
13-32906633-G-C c.1018G>C p.Glu340Gln Missense 10/27 - 1
13-32906636-T-C c.1021T>C p.Cys341Arg Missense 10/27 - 1
13-32906636-T-A c.1021T>A p.Cys341Ser Missense 10/27 - 2
13-32906637-G-C c.1022G>C p.Cys341Ser Missense 10/27 - 2
13-32906637-G-T c.1022G>T p.Cys341Phe Missense 10/27 - 1
13-32906639-G-A c.1024G>A p.Glu342Lys Missense 10/27 - 1
13-32906641-A-AT c.1026_1027insT p.Lys343* Nonsense 10/27 - 1
13-32906642-A-G c.1027A>G p.Lys343Glu Missense 10/27 - 1
13-32906644-AA-A c.1029del p.Lys343Asnfs*6 Frameshift 10/27 - 3
13-32906645-T-A c.1030T>A p.Ser344Thr Missense 10/27 - 1
13-32906648-A-G c.1033A>G p.Lys345Glu Missense 10/27 - 3
13-32906649-A-C c.1034A>C p.Lys345Thr Missense 10/27 - 1
13-32906650-A-AT c.1035_1036insT p.Asn346* Nonsense 10/27 - 2
13-32906652-A-C c.1037A>C p.Asn346Thr Missense 10/27 - 1
13-32906654-C-T c.1039C>T p.Gln347* Nonsense 10/27 - 1
13-32906655-A-G c.1040A>G p.Gln347Arg Missense 10/27 - 5
13-32906655-A-C c.1040A>C p.Gln347Pro Missense 10/27 - 2
13-32906657-G-A c.1042G>A p.Val348Met Missense 10/27 - 1
13-32906667-AAA-A c.1052_1053del p.Lys351Ilefs*6 Frameshift 10/27 - 1
13-32906668-AA-A c.1053del p.Lys351Asnfs*16 Frameshift 10/27 - 1
13-32906669-T-C c.1054T>C p.Tyr352His Missense 10/27 - 1
13-32906669-T-TT c.1054dup p.Tyr352Leufs*6 Frameshift 10/27 - 1
13-32906670-A-G c.1055A>G p.Tyr352Cys Missense 10/27 - 1
13-32906672-TCA-AAC c.1057_1059delinsAAC p.Ser353Asn Missense 10/27 - 1
13-32906673-C-T c.1058C>T p.Ser353Leu Missense 10/27 - 2
13-32906673-C-A c.1058C>A p.Ser353* Nonsense 10/27 - 1
13-32906673-C-G c.1058C>G p.Ser353* Nonsense 10/27 - 1
13-32906674-CA-C c.1059del p.Phe354Leufs*13 Frameshift 10/27 - 1
13-32906675-T-C c.1060T>C p.Phe354Leu Missense 10/27 - 1
13-32906677-T-A c.1062T>A p.Phe354Leu Missense 10/27 - 1
13-32906677-T-G c.1062T>G p.Phe354Leu Missense 10/27 - 1
13-32906676-T-C c.1061T>C p.Phe354Ser Missense 10/27 - 1
13-32906682-C-G c.1067C>G p.Ser356Cys Missense 10/27 - 1
13-32906690-G-A c.1075G>A p.Glu359Lys Missense 10/27 - 1
13-32906692-A-ATGGA c.1077_1078insTGGA p.Pro360Trpfs*4 Frameshift 10/27 - 1
13-32906697-AA-A c.1082del p.Asn361Metfs*6 Frameshift 10/27 - 2
13-32906700-A-ACA c.1085_1086insCA p.Thr363Ilefs*5 Frameshift 10/27 - 1
13-32906701-ATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTG-A c.1086_1141del p.Asp362Glufs*14 Frameshift 10/27 - 1
13-32906709-C-T c.1094C>T p.Pro365Leu Missense 10/27 - 2
13-32906710-A-AATTA c.1095_1096insATTA p.Leu366Ilefs*13 Frameshift 10/27 - 1
13-32906711-T-G c.1096T>G p.Leu366Val Missense 10/27 - 2
13-32906715-A-G c.1100A>G p.Asp367Gly Missense 10/27 - 1
13-32906717-T-A c.1102T>A p.Ser368Thr Missense 10/27 - 1
13-32906718-C-G c.1103C>G p.Ser368* Nonsense 10/27 - 3
13-32906726-G-A c.1111G>A p.Ala371Thr Missense 10/27 - 2
13-32906729-A-C c.1114A>C p.Asn372His Missense 10/27 - 198
13-32906731-T-C c.1116T>C p.Asn372Asn Synonymous 10/27 - 1
13-32906733-A-C c.1118A>C p.Gln373Pro Missense 10/27 - 1
13-32906736-AA-A c.1121del p.Lys374Serfs*25 Frameshift 10/27 - 1
13-32906738-C-T c.1123C>T p.Pro375Ser Missense 10/27 - 7
13-32906739-C-T c.1124C>T p.Pro375Leu Missense 10/27 - 1
13-32906740-CC-C c.1125del p.Phe376Leufs*23 Frameshift 10/27 - 1
13-32906743-TT-T c.1128del p.Phe376Leufs*23 Frameshift 10/27 - 2
13-32906745-A-AA c.1130dup p.Ser378Glufs*4 Frameshift 10/27 - 1
13-32906750-G-A c.1135G>A p.Gly379Arg Missense 10/27 - 1
13-32906750-G-C c.1135G>C p.Gly379Arg Missense 10/27 - 1
13-32906751-G-C c.1136G>C p.Gly379Ala Missense 10/27 - 1
13-32906753-AA-A c.1138del p.Ser380Valfs*19 Frameshift 10/27 - 4
13-32906757-A-G c.1142A>G p.Asp381Gly Missense 10/27 - 1
13-32906759-A-C c.1144A>C p.Lys382Gln Missense 10/27 - 1
13-32906761-A-G c.1146A>G p.Lys382Lys Synonymous 10/27 - 1
13-32906762-AA-A c.1147del p.Ile383Serfs*16 Frameshift 10/27 - 1
13-32906766-CC-AA c.1151_1152delinsAA p.Ser384* Nonsense 10/27 - 1
13-32906766-C-G c.1151C>G p.Ser384Cys Missense 10/27 - 4
13-32906766-C-T c.1151C>T p.Ser384Phe Missense 10/27 - 29
13-32906770-G-A c.1155G>A p.Lys385Lys Synonymous 10/27 - 1
13-32906775-T-C c.1160T>C p.Val387Ala Missense 10/27 - 1
13-32906781-C-T c.1166C>T p.Pro389Leu Missense 10/27 - 1
13-32906782-G-C c.1167G>C p.Pro389Pro Synonymous 10/27 - 2
13-32906782-G-A c.1167G>A p.Pro389Pro Synonymous 10/27 - 3
13-32906782-G-T c.1167G>T p.Pro389Pro Synonymous 10/27 - 2
13-32906791-C-G c.1176C>G p.Ala392Ala Synonymous 10/27 - 1
13-32906791-C-T c.1176C>T p.Ala392Ala Synonymous 10/27 - 1
13-32906791-C-A c.1176C>A p.Ala392Ala Synonymous 10/27 - 1
13-32906795-G-T c.1180G>T p.Glu394* Nonsense 10/27 - 2
13-32906796-A-C c.1181A>C p.Glu394Ala Missense 10/27 - 3
13-32906798-T-G c.1183T>G p.Trp395Gly Missense 10/27 - 2
13-32906799-G-A c.1184G>A p.Trp395* Nonsense 10/27 - 2
13-32906804-C-CTTAG c.1189_1190insTTAG p.Gln397Leufs*25 Frameshift 10/27 - 3
13-32906805-CAACTAACC-C c.1190_1197del p.Gln397Profs*21 Frameshift 10/27 - 1
13-32906806-A-C c.1191A>C p.Gln397His Missense 10/27 - 1
13-32906811-C-T c.1196C>T p.Thr399Ile Missense 10/27 - 1
13-32906817-C-A c.1202C>A p.Ser401* Nonsense 10/27 - 1
13-32906817-C-G c.1202C>G p.Ser401* Nonsense 10/27 - 1
13-32906819-G-C c.1204G>C p.Gly402Arg Missense 10/27 - 1
13-32906820-G-A c.1205G>A p.Gly402Asp Missense 10/27 - 1
13-32906820-GG-G c.1205del p.Gly402Valfs*2 Frameshift 10/27 - 1
13-32906822-TCTA-T c.1207_1209del p.Leu403del InFrameDeletion 10/27 - 1
13-32906826-A-T c.1211A>T p.Asn404Ile Missense 10/27 - 1
13-32906826-A-G c.1211A>G p.Asn404Ser Missense 10/27 - 1
13-32906828-G-A c.1213G>A p.Gly405Arg Missense 10/27 - 1
13-32906828-G-C c.1213G>C p.Gly405Arg Missense 10/27 - 1
13-32906832-C-A c.1217C>A p.Ala406Asp Missense 10/27 - 1
13-32906833-C-T c.1218C>T p.Ala406Ala Synonymous 10/27 - 2
13-32906833-C-G c.1218C>G p.Ala406Ala Synonymous 10/27 - 2
13-32906837-A-G c.1222A>G p.Met408Val Missense 10/27 - 1
13-32906837-GA-G c.1222del p.Met408Trpfs*22 Frameshift 10/27 - 1
13-32906840-G-GCG c.1225_1226insCG p.Glu409Alafs*22 Frameshift 10/27 - 1
13-32906846-AA-A c.1231del p.Ile411Tyrfs*19 Frameshift 10/27 - 4
13-32906847-T-C c.1232T>C p.Ile411Thr Missense 10/27 - 3
13-32906848-A-AA c.1233dup p.Pro412Thrfs*9 Frameshift 10/27 - 2
13-32906849-C-A c.1234C>A p.Pro412Thr Missense 10/27 - 1
13-32906849-C-T c.1234C>T p.Pro412Ser Missense 10/27 - 1
13-32906851-C-T c.1236C>T p.Pro412Pro Synonymous 10/27 - 1
13-32906852-C-G c.1237C>G p.Leu413Val Missense 10/27 - 1
13-32906853-CT-C c.1238del p.Leu413Hisfs*17 Frameshift 10/27 - 7
13-32906853-TA-AT c.1238_1239delinsAT p.Leu413His Missense 10/27 - 1
13-32906859-CA-C c.1244del p.His415Leufs*15 Frameshift 10/27 - 1
13-32906859-A-G c.1244A>G p.His415Arg Missense 10/27 - 4
13-32906861-A-G c.1246A>G p.Ile416Val Missense 10/27 - 1
13-32906862-T-G c.1247T>G p.Ile416Ser Missense 10/27 - 2
13-32906867-T-C c.1252T>C p.Ser418Pro Missense 10/27 - 1
13-32906868-C-G c.1253C>G p.Ser418* Nonsense 10/27 - 1
13-32906868-C-A c.1253C>A p.Ser418* Nonsense 10/27 - 1
13-32906872-GT-G c.1257del p.Cys419Trpfs*11 Frameshift 10/27 - 1
13-32906873-TG-T c.1258del p.Asp420Thrfs*10 Frameshift 10/27 - 1
13-32906874-A-G c.1259A>G p.Asp420Gly Missense 10/27 - 1
13-32906874-A-AA c.1259dup p.Asp420Glufs*32 Frameshift 10/27 - 1
13-32906876-C-A c.1261C>A p.Gln421Lys Missense 10/27 - 1
13-32906876-C-G c.1261C>G p.Gln421Glu Missense 10/27 - 1
13-32906876-C-T c.1261C>T p.Gln421* Nonsense 10/27 - 5
13-32906880-A-G c.1265A>G p.Asn422Ser Missense 10/27 - 1
13-32906880-AA-A c.1265del p.Asn422Ilefs*8 Frameshift 10/27 - 3
13-32906889-A-T c.1274A>T p.Glu425Val Missense 10/27 - 1
13-32906890-A-G c.1275A>G p.Glu425Glu Synonymous 10/27 - 8
13-32906892-A-C c.1277A>C p.Lys426Thr Missense 10/27 - 1
13-32906893-AA-A c.1278del p.Asp427Thrfs*3 Frameshift 10/27 - 5
13-32906893-A-AT c.1278_1279insT p.Asp427* Nonsense 10/27 - 1
13-32906894-G-C c.1279G>C p.Asp427His Missense 10/27 - 1
13-32906900-TT-CC c.1285_1286delinsCC p.Leu429Pro Missense 10/27 - 1
13-32906901-T-G c.1286T>G p.Leu429* Nonsense 10/27 - 2
13-32906901-T-C c.1286T>C p.Leu429Ser Missense 10/27 - 1
13-32906906-A-AT c.1291_1292insT p.Thr431Ilefs*21 Frameshift 10/27 - 1
13-32906907-ACA-A c.1292_1293del p.Thr431Argfs*20 Frameshift 10/27 - 1
13-32906907-C-T c.1292C>T p.Thr431Ile Missense 10/27 - 1
13-32906909-G-C c.1294G>C p.Glu432Gln Missense 10/27 - 1
13-32906909-G-T c.1294G>T p.Glu432* Nonsense 10/27 - 1
13-32906911-G-GT c.1296_1297insT p.Asn433* Nonsense 10/27 - 2
13-32906911-AGA-A c.1296_1297del p.Asn433Glnfs*18 Frameshift 10/27 - 8
13-32906915-CAAAA-C c.1300_1303del p.Lys434Glufs*25 Frameshift 10/27 - 2
13-32906918-A-AA c.1303dup p.Arg435Lysfs*17 Frameshift 10/27 - 2
13-32906919-G-A c.1304G>A p.Arg435Lys Missense 10/27 - 1
13-32906921-A-G c.1306A>G p.Lys436Glu Missense 10/27 - 1
13-32906921-AAAGAAAGA-A c.1306_1313del p.Lys436Phefs*13 Frameshift 10/27 - 1
13-32906923-AGA-A c.1308_1309del p.Lys437Argfs*14 Frameshift 10/27 - 1
13-32906925-AAAGA-A c.1310_1313del p.Lys437Ilefs*22 Frameshift 10/27 - 31
13-32906926-AA-A c.1311del p.Asp438Ilefs*22 Frameshift 10/27 - 1
13-32906926-AAGAT-A c.1311_1314del p.Lys437Asnfs*22 Frameshift 10/27 - 3
13-32906929-T-C c.1314T>C p.Asp438Asp Synonymous 10/27 - 1
13-32906929-T-A c.1314T>A p.Asp438Glu Missense 10/27 - 1
13-32906932-TT-T c.1317del p.Thr441Leufs*19 Frameshift 10/27 - 2
13-32906933-TC-T c.1318del p.Thr441Leufs*19 Frameshift 10/27 - 2
13-32906933-C-T c.1318C>T p.Leu440Phe Missense 10/27 - 1
13-32906933-CT-AG c.1318_1319inv p.Leu440Ser Missense 10/27 - 1
13-32906935-TTACTT-T c.1320_1324del p.Thr441Argfs*9 Frameshift 10/27 - 2
13-32906936-TACTT-T c.1321_1324del p.Thr441Glnfs*18 Frameshift 10/27 - 2
13-32906937-C-T c.1322C>T p.Thr441Ile Missense 10/27 - 1
13-32906939-T-G c.1324T>G p.Ser442Ala Missense 10/27 - 1
13-32906939-TCA-AAC c.1324_1326delinsAAC p.Ser442Asn Missense 10/27 - 1
13-32906945-A-G c.1330A>G p.Asn444Asp Missense 10/27 - 1
13-32906949-C-A c.1334C>A p.Ser445Tyr Missense 10/27 - 1
13-32906952-T-A c.1337T>A p.Leu446* Nonsense 10/27 - 1
13-32906956-CAC-C c.1341_1342del p.Arg448Tyrfs*3 Frameshift 10/27 - 1
13-32906956-A-C c.1341A>C p.Pro447Pro Synonymous 10/27 - 1
13-32906957-C-T c.1342C>T p.Arg448Cys Missense 10/27 - 3
13-32906957-C-A c.1342C>A p.Arg448Ser Missense 10/27 - 2
13-32906958-GT-AA c.1343_1344delinsAA p.Arg448Gln Missense 10/27 - 1
13-32906958-G-A c.1343G>A p.Arg448His Missense 10/27 - 6
13-32906966-TAG-T c.1351_1352del p.Ser451Profs*10 Frameshift 10/27 - 1
13-32906966-AGC-TGA c.1351_1353delinsTGA p.Ser451* Nonsense 10/27 - 1
13-32906967-G-A c.1352G>A p.Ser451Asn Missense 10/27 - 1
13-32906968-C-T c.1353C>T p.Ser451Ser Synonymous 10/27 - 1
13-32906969-C-A c.1354C>A p.Leu452Ile Missense 10/27 - 2
13-32906970-CTACCAAAATCAGAGAAGCCATTAAAT-C c.1355_1380del p.Leu452Argfs*7 Frameshift 10/27 - 1
13-32906970-T-C c.1355T>C p.Leu452Pro Missense 10/27 - 1
13-32906977-A-G c.1362A>G p.Lys454Lys Synonymous 10/27 - 4
13-32906977-AA-A c.1362del p.Lys454Asnfs*6 Frameshift 10/27 - 1
13-32906980-A-G c.1365A>G p.Ser455Ser Synonymous 10/27 - 42
13-32906981-G-C c.1366G>C p.Glu456Gln Missense 10/27 - 1
13-32906981-G-A c.1366G>A p.Glu456Lys Missense 10/27 - 1
13-32906983-G-T c.1368G>T p.Glu456Asp Missense 10/27 - 1
13-32906983-G-C c.1368G>C p.Glu456Asp Missense 10/27 - 1
13-32906983-AGA-A c.1368_1369del p.Lys457Alafs*4 Frameshift 10/27 - 2
13-32906986-G-A c.1371G>A p.Lys457Lys Synonymous 10/27 - 1
13-32906991-T-C c.1376T>C p.Leu459Ser Missense 10/27 - 2
13-32906995-T-G c.1380T>G p.Asn460Lys Missense 10/27 - 1
13-32906999-G-T c.1384G>T p.Glu462* Nonsense 10/27 - 1
13-32906999-G-A c.1384G>A p.Glu462Lys Missense 10/27 - 1
13-32907000-A-G c.1385A>G p.Glu462Gly Missense 10/27 - 19
13-32907000-A-T c.1385A>T p.Glu462Val Missense 10/27 - 4
13-32907002-AC-GAA c.1387_1388delinsGAA p.Thr463Glufs*5 Frameshift 10/27 - 2
13-32907002-AA-A c.1387del p.Thr463Glnfs*3 Frameshift 10/27 - 2
13-32907004-CAG-C c.1389_1390del p.Val464Glyfs*3 Frameshift 10/27 - 7
13-32907009-T-G c.1394T>G p.Val465Gly Missense 10/27 - 1
13-32907010-A-T c.1395A>T p.Val465Val Synonymous 10/27 - 3
13-32907010-A-G c.1395A>G p.Val465Val Synonymous 10/27 - 3
13-32907010-A-C c.1395A>C p.Val465Val Synonymous 10/27 - 6
13-32907014-A-T c.1399A>T p.Lys467* Nonsense 10/27 - 24
13-32907015-A-G c.1400A>G p.Lys467Arg Missense 10/27 - 1
13-32907017-A-G c.1402A>G p.Arg468Gly Missense 10/27 - 1
13-32907020-AGA-A c.1405_1406del p.Asp469* Frameshift 10/27 - 3
13-32907023-G-T c.1408G>T p.Glu470* Nonsense 10/27 - 1
13-32907023-G-C c.1408G>C p.Glu470Gln Missense 10/27 - 1
13-32907026-G-T c.1411G>T p.Glu471* Nonsense 10/27 - 2
13-32907031-AGCATC-A c.1416_1420del p.Gln472Hisfs*2 Frameshift 10/27 - 1
13-32907031-G-C c.1416G>C p.Gln472His Missense 10/27 - 1
13-32907031-G-T c.1416G>T p.Gln472His Missense 10/27 - 1
13-32907034-T-C c.1419T>C p.His473His Synonymous 10/27 - 1
13-32907037-T-A c.1422T>A p.Leu474Leu Synonymous 10/27 - 1
13-32907037-T-C c.1422T>C p.Leu474Leu Synonymous 10/27 - 1
13-32907037-T-G c.1422T>G p.Leu474Leu Synonymous 10/27 - 1
13-32907042-C-G c.1427C>G p.Ser476Cys Missense 10/27 - 1
13-32907044-TC-T c.1429del p.His477Ilefs*8 Frameshift 10/27 - 1
13-32907046-T-C c.1431T>C p.His477His Synonymous 10/27 - 1
13-32907050-G-T c.1435G>T p.Asp479Tyr Missense 10/27 - 1
13-32907052-C-G c.1437C>G p.Asp479Glu Missense 10/27 - 2
13-32907054-G-A c.1439G>A p.Cys480Tyr Missense 10/27 - 2
13-32907055-C-A c.1440C>A p.Cys480* Nonsense 10/27 - 2
13-32907056-A-G c.1441A>G p.Ile481Val Missense 10/27 - 2
13-32907059-TC-T c.1444del p.Ala483Glnfs*2 Frameshift 10/27 - 1
13-32907062-G-C c.1447G>C p.Ala483Pro Missense 10/27 - 3
13-32907063-CAGT-CAGTCAGT c.1448_1451dup p.Lys485Serfs*30 Frameshift 10/27 - 1
13-32907063-C-T c.1448C>T p.Ala483Val Missense 10/27 - 1
13-32907070-G-T c.1455G>T p.Lys485Asn Missense 10/27 - 1
13-32907070-G-C c.1455G>C p.Lys485Asn Missense 10/27 - 1
13-32907071-C-T c.1456C>T p.Gln486* Nonsense 10/27 - 1
13-32907074-G-T c.1459G>T p.Ala487Ser Missense 10/27 - 1
13-32907075-C-A c.1460C>A p.Ala487Glu Missense 10/27 - 6
13-32907076-A-T c.1461A>T p.Ala487Ala Synonymous 10/27 - 1
13-32907077-A-G c.1462A>G p.Ile488Val Missense 10/27 - 2
13-32907077-A-AA c.1462dup p.Ile488Asnfs*26 Frameshift 10/27 - 1
13-32907078-T-G c.1463T>G p.Ile488Arg Missense 10/27 - 1
13-32907081-C-G c.1466C>G p.Ser489Cys Missense 10/27 - 4
13-32907084-G-A c.1469G>A p.Gly490Glu Missense 10/27 - 1
13-32907084-GA-AC c.1469_1470delinsAC p.Gly490Asp Missense 10/27 - 1
13-32907087-C-G c.1472C>G p.Thr491Ser Missense 10/27 - 3
13-32907091-CTC-C c.1476_1477del p.Pro493Serfs*20 Frameshift 10/27 - 1
13-32907093-C-T c.1478C>T p.Pro493Leu Missense 10/27 - 2
13-32907098-G-A c.1483G>A p.Ala495Thr Missense 10/27 - 2
13-32907098-G-C c.1483G>C p.Ala495Pro Missense 10/27 - 2
13-32907102-TCT-T c.1487_1488del p.Ser496Phefs*17 Frameshift 10/27 - 1
13-32907102-C-T c.1487C>T p.Ser496Phe Missense 10/27 - 2
13-32907108-T-G c.1493T>G p.Phe498Cys Missense 10/27 - 1
13-32907110-C-T c.1495C>T p.Gln499* Nonsense 10/27 - 1
13-32907114-GG-G c.1499del p.Gly500Valfs*9 Frameshift 10/27 - 1
13-32907114-GT-AG c.1499_1500delinsAG p.Gly500Glu Missense 10/27 - 1
13-32907119-A-C c.1504A>C p.Lys502Gln Missense 10/27 - 1
13-32907119-CAAAAA-C c.1504_1508del p.Lys502Valfs*10 Frameshift 10/27 - 2
13-32907120-AAAAA-A c.1505_1508del p.Lys502Serfs*6 Frameshift 10/27 - 1
13-32907126-C-G c.1511C>G p.Ser504Cys Missense 10/27 - 1
13-32907126-TCT-T c.1511_1512del p.Ser504Tyrfs*9 Frameshift 10/27 - 1
13-32907128-A-G c.1513A>G p.Ile505Val Missense 10/27 - 2
13-32907129-T-G c.1514T>G p.Ile505Arg Missense 10/27 - 2
13-32907129-T-C c.1514T>C p.Ile505Thr Missense 10/27 - 22
13-32907129-AT-A c.1514del p.Ile505Asnfs*4 Frameshift 10/27 - 1
13-32907131-ATTCAG-A c.1516_1520del p.Phe506Asnfs*6 Frameshift 10/27 - 1
13-32907131-T-C c.1516T>C p.Phe506Leu Missense 10/27 - 1
13-32907133-C-A c.1518C>A p.Phe506Leu Missense 10/27 - 1
13-32907133-C-G c.1518C>G p.Phe506Leu Missense 10/27 - 1
13-32907133-C-T c.1518C>T p.Phe506Phe Synonymous 10/27 - 1
13-32907140-A-T c.1525A>T p.Arg509* Nonsense 10/27 - 1
13-32907140-AG-CA c.1525_1526delinsCA p.Arg509Gln Missense 10/27 - 1
13-32907140-AGA-TGG c.1525_1527delinsTGG p.Arg509Trp Missense 10/27 - 1
13-32907141-G-T c.1526G>T p.Arg509Ile Missense 10/27 - 1
13-32907143-G-T c.1528G>T p.Glu510* Nonsense 10/27 - 6
13-32907145-A-G c.1530A>G p.Glu510Glu Synonymous 10/27 - 1
13-32907146-TCA-AAC c.1531_1533delinsAAC p.Ser511Asn Missense 10/27 - 1
13-32907149-C-A c.1534C>A p.Pro512Thr Missense 10/27 - 1
13-32907153-A-G c.1538A>G p.Lys513Arg Missense 10/27 - 6
13-32907159-C-T c.1544C>T p.Thr515Ile Missense 10/27 - 1
13-32907161-TTT-T c.1546_1547del p.Phe516Glnfs*10 Frameshift 10/27 - 1
13-32907162-TT-T c.1547del p.Phe516Serfs*9 Frameshift 10/27 - 1
13-32907165-A-G c.1550A>G p.Asn517Ser Missense 10/27 - 8
13-32907165-A-T c.1550A>T p.Asn517Ile Missense 10/27 - 2
13-32907168-C-CT c.1553_1554insT p.Ser519Lysfs*8 Frameshift 10/27 - 1
13-32907169-A-C c.1554A>C p.Ala518Ala Synonymous 10/27 - 1
13-32907171-G-C c.1556G>C p.Ser519Thr Missense 10/27 - 1
13-32907179-G-T c.1564G>T p.Gly522Cys Missense 10/27 - 1
13-32907179-G-C c.1564G>C p.Gly522Arg Missense 10/27 - 3
13-32907180-GGT-G c.1565_1566del p.Gly522Alafs*4 Frameshift 10/27 - 1
13-32907183-A-G c.1568A>G p.His523Arg Missense 10/27 - 7
13-32907183-A-T c.1568A>T p.His523Leu Missense 10/27 - 1
13-32907185-TAT-T c.1570_1571del p.Met524Aspfs*2 Frameshift 10/27 - 1
13-32907186-T-C c.1571T>C p.Met524Thr Missense 10/27 - 1
13-32907188-A-G c.1573A>G p.Thr525Ala Missense 10/27 - 1
13-32907189-C-T c.1574C>T p.Thr525Ile Missense 10/27 - 1
13-32907189-C-G c.1574C>G p.Thr525Ser Missense 10/27 - 2
13-32907198-AA-A c.1583del p.Asn528Thrfs*30 Frameshift 10/27 - 2
13-32907198-A-G c.1583A>G p.Asn528Ser Missense 10/27 - 1
13-32907203-A-T c.1588A>T p.Lys530* Nonsense 10/27 - 1
13-32907206-A-G c.1591A>G p.Lys531Glu Missense 10/27 - 1
13-32907208-A-AA c.1593dup p.Glu532Argfs*3 Frameshift 10/27 - 3
13-32907208-A-G c.1593A>G p.Lys531Lys Synonymous 10/27 - 2
13-32907208-AA-A c.1593del p.Glu532Lysfs*26 Frameshift 10/27 - 2
13-32907209-G-T c.1594G>T p.Glu532* Nonsense 10/27 - 1
13-32907212-AA-A c.1597del p.Thr533Leufs*25 Frameshift 10/27 - 1
13-32907215-G-A c.1600G>A p.Glu534Lys Missense 10/27 - 1
13-32907216-A-G c.1601A>G p.Glu534Gly Missense 10/27 - 1
13-32907218-G-T c.1603G>T p.Ala535Ser Missense 10/27 - 1
13-32907220-C-T c.1605C>T p.Ala535Ala Synonymous 10/27 - 1
13-32907223-T-TT c.1608dup p.Glu537* Nonsense 10/27 - 1
13-32907228-G-A c.1613G>A p.Ser538Asn Missense 10/27 - 1
13-32907231-G-C c.1616G>C p.Gly539Ala Missense 10/27 - 1
13-32907236-G-A c.1621G>A p.Glu541Lys Missense 10/27 - 1
13-32907238-A-G c.1623A>G p.Glu541Glu Synonymous 10/27 - 1
13-32907238-A-T c.1623A>T p.Glu541Asp Missense 10/27 - 1
13-32907238-A-C c.1623A>C p.Glu541Asp Missense 10/27 - 1
13-32907241-A-G c.1626A>G p.Ile542Met Missense 10/27 - 2
13-32907242-C-A c.1627C>A p.His543Asn Missense 10/27 - 3
13-32907246-C-T c.1631C>T p.Thr544Ile Missense 10/27 - 3
13-32907251-TT-T c.1636del p.Cys546Alafs*12 Frameshift 10/27 - 1
13-32907257-C-T c.1642C>T p.Gln548* Nonsense 10/27 - 4
13-32907259-G-A c.1644G>A p.Gln548Gln Synonymous 10/27 - 3
13-32907260-A-G c.1645A>G p.Lys549Glu Missense 10/27 - 1
13-32907262-G-A c.1647G>A p.Lys549Lys Synonymous 10/27 - 2
13-32907273-T-G c.1658T>G p.Leu553* Nonsense 10/27 - 1
13-32907273-T-A c.1658T>A p.Leu553* Nonsense 10/27 - 1
13-32907274-A-G c.1659A>G p.Leu553Leu Synonymous 10/27 - 1
13-32907277-T-G c.1662T>G p.Cys554Trp Missense 10/27 - 9
13-32907285-TTAATTGATAATGGA-T c.1670_1683del p.Leu557* Frameshift 10/27 - 1
13-32907285-T-G c.1670T>G p.Leu557* Nonsense 10/27 - 5
13-32907287-AA-A c.1672del p.Ile558Leufs*15 Frameshift 10/27 - 1
13-32907291-A-G c.1676A>G p.Asp559Gly Missense 10/27 - 2
13-32907294-A-G c.1679A>G p.Asn560Ser Missense 10/27 - 1
13-32907295-T-C c.1680T>C p.Asn560Asn Synonymous 10/27 - 1
13-32907303-G-A c.1688G>A p.Trp563* Nonsense 10/27 - 2
13-32907304-GG-G c.1689del p.Trp563Cysfs*10 Frameshift 10/27 - 2
13-32907304-G-C c.1689G>C p.Trp563Cys Missense 10/27 - 1
13-32907304-G-A c.1689G>A p.Trp563* Nonsense 10/27 - 1
13-32907309-C-T c.1694C>T p.Ala565Val Missense 10/27 - 1
13-32907317-A-G c.1702A>G p.Thr568Ala Missense 10/27 - 1
13-32907318-C-T c.1703C>T p.Thr568Ile Missense 10/27 - 1
13-32907320-ACA-A c.1705_1706del p.Gln569Glufs*20 Frameshift 10/27 - 1
13-32907324-A-G c.1709A>G p.Asn570Ser Missense 10/27 - 1
13-32907326-TT-T c.1711del p.Ser571Leufs*2 Frameshift 10/27 - 1
13-32907326-TC-AA c.1711_1712delinsAA p.Ser571Asn Missense 10/27 - 1
13-32907327-C-T c.1712C>T p.Ser571Phe Missense 10/27 - 1
13-32907329-G-T c.1714G>T p.Val572Leu Missense 10/27 - 1
13-32907329-G-A c.1714G>A p.Val572Ile Missense 10/27 - 2
13-32907329-G-C c.1714G>C p.Val572Leu Missense 10/27 - 1
13-32907331-TA-T c.1716del p.Ala573Leufs*2 Frameshift 10/27 - 1
13-32907337-G-T c.1722G>T p.Leu574Phe Missense 10/27 - 1
13-32907337-G-C c.1722G>C p.Leu574Phe Missense 10/27 - 1
13-32907344-G-T c.1729G>T p.Ala577Ser Missense 10/27 - 1
13-32907347-G-C c.1732G>C p.Gly578Arg Missense 10/27 - 1
13-32907351-T-G c.1736T>G p.Leu579* Nonsense 10/27 - 2
13-32907353-A-G c.1738A>G p.Ile580Val Missense 10/27 - 1
13-32907359-A-AAA c.1744_1745insAA p.Thr582Lysfs*3 Frameshift 10/27 - 1
13-32907359-A-C c.1744A>C p.Thr582Pro Missense 10/27 - 20
13-32907359-A-G c.1744A>G p.Thr582Ala Missense 10/27 - 5
13-32907363-T-TA c.1748_1749insA p.Lys584Glufs*6 Frameshift 10/27 - 1
13-32907363-T-A c.1748T>A p.Leu583* Nonsense 10/27 - 3
13-32907364-G-A c.1749G>A p.Leu583Leu Synonymous 10/27 - 1
13-32907367-A-AT c.1752_1753insT p.Lys585* Nonsense 10/27 - 1
13-32907369-A-G c.1754A>G p.Lys585Arg Missense 10/27 - 1
13-32907369-AA-A c.1754del p.Lys585Argfs*29 Frameshift 10/27 - 5
13-32907370-AGAAAA-A c.1755_1759del p.Lys585Asnfs*3 Frameshift 10/27 - 6
13-32907375-AC-A c.1760del p.Thr587Lysfs*27 Frameshift 10/27 - 1
13-32907377-A-G c.1762A>G p.Asn588Asp Missense 10/27 - 3
13-32907378-AATAA-A c.1763_1766del p.Asn588Serfs*25 Frameshift 10/27 - 6
13-32907378-A-G c.1763A>G p.Asn588Ser Missense 10/27 - 2
13-32907380-TAA-T c.1765_1766del p.Lys589Valfs*7 Frameshift 10/27 - 1
13-32907384-T-G c.1769T>G p.Phe590Cys Missense 10/27 - 2
13-32907385-T-C c.1770T>C p.Phe590Phe Synonymous 10/27 - 1
13-32907386-AT-TA c.1771_1772delinsTA p.Ile591Tyr Missense 10/27 - 1
13-32907387-TT-AG c.1772_1773delinsAG p.Ile591Lys Missense 10/27 - 1
13-32907387-T-C c.1772T>C p.Ile591Thr Missense 10/27 - 2
13-32907388-TTTAT-T c.1773_1776del p.Ile591Metfs*22 Frameshift 10/27 - 4
13-32907388-T-G c.1773T>G p.Ile591Met Missense 10/27 - 1
13-32907389-TT-T c.1774del p.Tyr592Metfs*22 Frameshift 10/27 - 1
13-32907395-A-G c.1780A>G p.Ile594Val Missense 10/27 - 1
13-32907395-A-T c.1780A>T p.Ile594Leu Missense 10/27 - 1
13-32907395-TA-T c.1780del p.Ile594Tyrfs*20 Frameshift 10/27 - 1
13-32907396-T-C c.1781T>C p.Ile594Thr Missense 10/27 - 1
13-32907398-C-T c.1783C>T p.His595Tyr Missense 10/27 - 1
13-32907401-G-A c.1786G>A p.Asp596Asn Missense 10/27 - 7
13-32907401-G-C c.1786G>C p.Asp596His Missense 10/27 - 11
13-32907401-G-T c.1786G>T p.Asp596Tyr Missense 10/27 - 1
13-32907402-GATGAAACATCTTA-G c.1787_1799del p.Asp596Valfs*14 Frameshift 10/27 - 1
13-32907403-T-C c.1788T>C p.Asp596Asp Synonymous 10/27 - 9
13-32907404-G-T c.1789G>T p.Glu597* Nonsense 10/27 - 1
13-32907404-G-A c.1789G>A p.Glu597Lys Missense 10/27 - 1
13-32907407-A-G c.1792A>G p.Thr598Ala Missense 10/27 - 27
13-32907407-AA-A c.1792del p.Thr598Hisfs*16 Frameshift 10/27 - 4
13-32907410-TC-GG c.1795_1796delinsGG p.Ser599Gly Missense 10/27 - 1
13-32907411-CT-AA c.1796_1797delinsAA p.Ser599* Nonsense 10/27 - 1
13-32907411-TCTTAT-T c.1796_1800del p.Ser599* Frameshift 10/27 - 13
13-32907411-C-T c.1796C>T p.Ser599Phe Missense 10/27 - 1
13-32907412-CTT-C c.1797_1798del p.Tyr600* Frameshift 10/27 - 1
13-32907413-T-C c.1798T>C p.Tyr600His Missense 10/27 - 6
13-32907413-T-G c.1798T>G p.Tyr600Asp Missense 10/27 - 1
13-32907415-T-A c.1800T>A p.Tyr600* Nonsense 10/27 - 3
13-32907416-A-G c.1801A>G p.Lys601Glu Missense 10/27 - 1
13-32907417-A-C c.1802A>C p.Lys601Thr Missense 10/27 - 1
13-32907417-AAA-A c.1802_1803del p.Lys601Argfs*14 Frameshift 10/27 - 1
13-32907418-A-T c.1803A>T p.Lys601Asn Missense 10/27 - 1
13-32907418-A-AA c.1803dup p.Gly602Argfs*14 Frameshift 10/27 - 6
13-32907418-A-C c.1803A>C p.Lys601Asn Missense 10/27 - 1
13-32907419-G-T c.1804G>T p.Gly602* Nonsense 10/27 - 2
13-32907419-G-A c.1804G>A p.Gly602Arg Missense 10/27 - 11
13-32907420-GA-AC c.1805_1806delinsAC p.Gly602Asp Missense 10/27 - 1
13-32907423-A-T c.1808A>T p.Lys603Ile Missense 10/27 - 1
13-32907425-A-G c.1810A>G p.Lys604Glu Missense 10/27 - 1
13-32907428-AA-A c.1813del p.Ile605Tyrfs*9 Frameshift 10/27 - 11
13-32907428-A-AA c.1813dup p.Ile605Asnfs*11 Frameshift 10/27 - 42
13-32907428-A-AC c.1813_1814insC p.Ile605Thrfs*11 Frameshift 10/27 - 2
13-32907429-T-C c.1814T>C p.Ile605Thr Missense 10/27 - 1
13-32907430-A-AA c.1815dup p.Pro606Thrfs*10 Frameshift 10/27 - 3
13-32907431-C-T c.1816C>T p.Pro606Ser Missense 10/27 - 1
13-32907432-C-T c.1817C>T p.Pro606Leu Missense 10/27 - 1
13-32907433-G-A c.1818G>A p.Pro606Pro Synonymous 10/27 - 1
13-32907435-A-C c.1820A>C p.Lys607Thr Missense 10/27 - 6
13-32907438-A-AA c.1823dup p.Asp608Glufs*8 Frameshift 10/27 - 1
13-32907440-C-G c.1825C>G p.Gln609Glu Missense 10/27 - 3
13-32907440-C-T c.1825C>T p.Gln609* Nonsense 10/27 - 2
13-32907447-C-G c.1832C>G p.Ser611* Nonsense 10/27 - 5
13-32907447-C-A c.1832C>A p.Ser611* Nonsense 10/27 - 10
13-32907447-C-T c.1832C>T p.Ser611Leu Missense 10/27 - 1
13-32907448-A-AA c.1833dup p.Glu612Argfs*4 Frameshift 10/27 - 1
13-32907449-G-T c.1834G>T p.Glu612* Nonsense 10/27 - 1
13-32907449-G-A c.1834G>A p.Glu612Lys Missense 10/27 - 1
13-32907450-A-T c.1835A>T p.Glu612Val Missense 10/27 - 1
13-32907453-T-G c.1838T>G p.Leu613Arg Missense 10/27 - 1
13-32907457-T-TT c.1842dup p.Asn615* Nonsense 10/27 - 3
13-32907460-ACT-A c.1845_1846del p.Asn615Lysfs*6 Frameshift 10/27 - 1
13-32907461-T-TT c.1846dup p.Cys616Leufs*6 Frameshift 10/27 - 1
13-32907464-T-C c.1849T>C p.Ser617Pro Missense 10/27 - 1
13-32907465-C-A c.1850C>A p.Ser617* Nonsense 10/27 - 2
13-32907465-C-G c.1850C>G p.Ser617* Nonsense 10/27 - 1
13-32907468-C-T c.1853C>T p.Ala618Val Missense 10/27 - 1
13-32907470-C-T c.1855C>T p.Gln619* Nonsense 10/27 - 3
13-32907471-A-AA c.1856dup p.Phe620Valfs*2 Frameshift 10/27 - 1
13-32907474-TTTGAAGC-T c.1859_1865del p.Phe620* Frameshift 10/27 - 1
13-32907480-C-T c.1865C>T p.Ala622Val Missense 10/27 - 3
13-32907486-C-T c.1871C>T p.Ala624Val Missense 10/27 - 1
13-32907495-C-T c.1880C>T p.Ala627Val Missense 10/27 - 1
13-32907496-CA-C c.1881del p.Pro628Hisfs*16 Frameshift 10/27 - 2
13-32907502-TTACATTT-T c.1887_1893del p.Thr630Glnfs*12 Frameshift 10/27 - 2
13-32907503-A-AAA c.1888_1889insAA p.Thr630Lysfs*15 Frameshift 10/27 - 1
13-32907503-A-AA c.1888dup p.Thr630Asnfs*6 Frameshift 10/27 - 4
13-32907504-C-T c.1889C>T p.Thr630Ile Missense 10/27 - 14
13-32907504-AC-A c.1889del p.Thr630Asnfs*14 Frameshift 10/27 - 3
13-32907504-CA-AC c.1889_1890delinsAC p.Thr630Asn Missense 10/27 - 1
13-32907506-T-C c.1891T>C p.Phe631Leu Missense 10/27 - 1
13-32907508-T-G c.1893T>G p.Phe631Leu Missense 10/27 - 1
13-32907508-T-A c.1893T>A p.Phe631Leu Missense 10/27 - 1
13-32907508-T-TT c.1893dup p.Ala632Cysfs*4 Frameshift 10/27 - 1
13-32907510-C-G c.1895C>G p.Ala632Gly Missense 10/27 - 1
13-32907516-GC-G c.1901del p.Ala634Valfs*10 Frameshift 10/27 - 2
13-32907516-CT-AG c.1901_1902inv p.Ala634Glu Missense 10/27 - 1
13-32907520-ATTCAG-A c.1905_1909del p.Asp635Glufs*15 SpliceDonorDeletion 10/27 - 1
13-32907521-TC-AG c.1906_1907delinsAG p.Ser636Arg Missense 10/27 - 1
13-32907524-G-C c.1909G>C p.Gly637Arg Missense 10/27 - 1
13-32907524-AGGTACCTCTGTCTTTTTTTTTTTGTAAATAGTACATATAGTTTTATAGATGACGATTCC-A c.1909_1909+58del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/27 10/26 1
13-32907525-G-A c.1909+1G>A - IntronicSNV - 10/26 3
13-32907532-CT-C c.1909+8del - IntronicDeletion - 10/26 1
13-32907546-TT-T c.1909+22del - IntronicDeletion - 10/26 5
13-32907767-C-T c.1909+243C>T - IntronicSNV - 10/26 1
13-32910056-T-G c.1910-346T>G - IntronicSNV - 10/26 1
13-32910328-T-C c.1910-74T>C - IntronicSNV - 10/26 10
13-32910351-G-T c.1910-51G>T - IntronicSNV - 10/26 10
13-32910359-T-C c.1910-43T>C - IntronicSNV - 10/26 1
13-32910365-G-GG c.1910-37dup - IntronicInsertion - 10/26 1
13-32910403-T-C c.1911T>C p.Gly637Gly Synonymous 11/27 - 4
13-32910403-T-G c.1911T>G p.Gly637Gly Synonymous 11/27 - 4
13-32910404-TTTATTGCATTCTTCTGTGAAAAGAAGCTGTTCACAGAATGATTCTGAAGAACCAACTTT-T c.1912_1970del p.Leu638Valfs*4 Unclassified 11/27 - 1
13-32910405-T-TT c.1913dup p.Leu638Phefs*14 Frameshift 11/27 - 1
13-32910407-T-G c.1915T>G p.Leu639Val Missense 11/27 - 1
13-32910413-TC-CT c.1921_1922delinsCT p.Ser641Leu Missense 11/27 - 1
13-32910414-C-A c.1922C>A p.Ser641Tyr Missense 11/27 - 1
13-32910416-T-C c.1924T>C p.Ser642Pro Missense 11/27 - 1
13-32910417-TC-T c.1925del p.Ser642Leufs*2 Frameshift 11/27 - 1
13-32910421-TG-T c.1929del p.Arg645Glufs*15 Frameshift 11/27 - 15
13-32910424-A-AT c.1932_1933insT p.Arg645* Nonsense 11/27 - 2
13-32910425-AG-GA c.1933_1934delinsGA p.Arg645Glu Missense 11/27 - 1
13-32910426-G-A c.1934G>A p.Arg645Lys Missense 11/27 - 1
13-32910426-G-GG c.1934dup p.Ser646Lysfs*6 Frameshift 11/27 - 1
13-32910430-C-A c.1938C>A p.Ser646Arg Missense 11/27 - 3
13-32910430-C-T c.1938C>T p.Ser646Ser Synonymous 11/27 - 12
13-32910431-CTGTT-C c.1939_1942del p.Cys647Hisfs*12 Frameshift 11/27 - 1
13-32910435-C-T c.1943C>T p.Ser648Leu Missense 11/27 - 1
13-32910437-C-T c.1945C>T p.Gln649* Nonsense 11/27 - 2
13-32910440-A-G c.1948A>G p.Asn650Asp Missense 11/27 - 1
13-32910443-G-A c.1951G>A p.Asp651Asn Missense 11/27 - 1
13-32910443-G-T c.1951G>T p.Asp651Tyr Missense 11/27 - 1
13-32910444-A-G c.1952A>G p.Asp651Gly Missense 11/27 - 2
13-32910445-T-G c.1953T>G p.Asp651Glu Missense 11/27 - 1
13-32910447-C-T c.1955C>T p.Ser652Phe Missense 11/27 - 1
13-32910452-G-A c.1960G>A p.Glu654Lys Missense 11/27 - 1
13-32910454-AA-A c.1962del p.Glu654Aspfs*6 Frameshift 11/27 - 11
13-32910454-A-AA c.1962dup p.Pro655Thrfs*7 Frameshift 11/27 - 3
13-32910455-C-T c.1963C>T p.Pro655Ser Missense 11/27 - 1
13-32910456-C-A c.1964C>A p.Pro655Gln Missense 11/27 - 5
13-32910456-C-G c.1964C>G p.Pro655Arg Missense 11/27 - 22
13-32910456-C-T c.1964C>T p.Pro655Leu Missense 11/27 - 6
13-32910456-CC-C c.1964del p.Pro655Glnfs*5 Frameshift 11/27 - 5
13-32910462-TT-T c.1970del p.Leu657Cysfs*3 Frameshift 11/27 - 1
13-32910462-T-A c.1970T>A p.Leu657* Nonsense 11/27 - 1
13-32910467-T-C c.1975T>C p.Leu659Leu Synonymous 11/27 - 1
13-32910477-C-G c.1985C>G p.Ser662Cys Missense 11/27 - 1
13-32910481-TT-T c.1989del p.Phe663Leufs*5 Frameshift 11/27 - 2
13-32910483-G-A c.1991G>A p.Gly664Glu Missense 11/27 - 1
13-32910488-A-G c.1996A>G p.Ile666Val Missense 11/27 - 1
13-32910495-G-A c.2003G>A p.Arg668Lys Missense 11/27 - 1
13-32910498-A-T c.2006A>T p.Lys669Ile Missense 11/27 - 1
13-32910499-A-AA c.2007dup p.Cys670Metfs*3 Frameshift 11/27 - 1
13-32910500-TG-AC c.2008_2009delinsAC p.Cys670Thr Missense 11/27 - 1
13-32910502-T-G c.2010T>G p.Cys670Trp Missense 11/27 - 1
13-32910506-A-G c.2014A>G p.Arg672Gly Missense 11/27 - 1
13-32910515-AA-A c.2023del p.Thr675Hisfs*7 Frameshift 11/27 - 1
13-32910516-ACATGT-A c.2024_2028del p.Thr675Ilefs*2 Frameshift 11/27 - 1
13-32910516-C-G c.2024C>G p.Thr675Arg Missense 11/27 - 1
13-32910527-A-ATT c.2035_2036insTT p.Asn679Ilefs*4 Frameshift 11/27 - 1
13-32910531-C-CTT c.2039_2040insTT p.Val681* Nonsense 11/27 - 1
13-32910533-G-T c.2041G>T p.Val681Leu Missense 11/27 - 1
13-32910539-CTCTC-C c.2047_2050del p.Ser683Argfs*46 Frameshift 11/27 - 2
13-32910540-C-G c.2048C>G p.Ser683Cys Missense 11/27 - 1
13-32910541-CTC-C c.2049_2050del p.Gln684Glyfs*3 Frameshift 11/27 - 2
13-32910542-C-A c.2050C>A p.Gln684Lys Missense 11/27 - 1
13-32910544-G-T c.2052G>T p.Gln684His Missense 11/27 - 1
13-32910544-G-C c.2052G>C p.Gln684His Missense 11/27 - 1
13-32910548-C-A c.2056C>A p.Leu686Ile Missense 11/27 - 1
13-32910551-TGATTA-T c.2059_2063del p.Asp687* Frameshift 11/27 - 4
13-32910561-A-G c.2069A>G p.Glu690Gly Missense 11/27 - 2
13-32910563-G-A c.2071G>A p.Ala691Thr Missense 11/27 - 1
13-32910563-AG-A c.2071del p.Ala691Glnfs*39 Frameshift 11/27 - 1
13-32910568-AA-A c.2076del p.Lys692Asnfs*38 Frameshift 11/27 - 1
13-32910569-T-G c.2077T>G p.Cys693Gly Missense 11/27 - 1
13-32910574-T-C c.2082T>C p.Asn694Asn Synonymous 11/27 - 1
13-32910582-A-G c.2090A>G p.Lys697Arg Missense 11/27 - 1
13-32910584-C-G c.2092C>G p.Leu698Val Missense 11/27 - 1
13-32910586-TA-T c.2094del p.Gln699Serfs*31 Frameshift 11/27 - 1
13-32910587-ACA-A c.2095_2096del p.Gln699Valfs*8 Frameshift 11/27 - 1
13-32910587-C-T c.2095C>T p.Gln699* Nonsense 11/27 - 4
13-32910588-A-T c.2096A>T p.Gln699Leu Missense 11/27 - 1
13-32910591-TT-T c.2099del p.Leu700Tyrfs*30 Frameshift 11/27 - 1
13-32910594-T-G c.2102T>G p.Phe701Cys Missense 11/27 - 2
13-32910597-T-A c.2105T>A p.Ile702Asn Missense 11/27 - 1
13-32910601-C-T c.2109C>T p.Thr703Thr Synonymous 11/27 - 1
13-32910601-C-A c.2109C>A p.Thr703Thr Synonymous 11/27 - 1
13-32910601-C-G c.2109C>G p.Thr703Thr Synonymous 11/27 - 1
13-32910603-CC-C c.2111del p.Pro704Glnfs*26 Frameshift 11/27 - 1
13-32910611-G-A c.2119G>A p.Asp707Asn Missense 11/27 - 1
13-32910613-T-A c.2121T>A p.Asp707Glu Missense 11/27 - 1
13-32910613-T-G c.2121T>G p.Asp707Glu Missense 11/27 - 1
13-32910614-T-A c.2122T>A p.Ser708Thr Missense 11/27 - 2
13-32910617-C-G c.2125C>G p.Leu709Val Missense 11/27 - 1
13-32910617-C-A c.2125C>A p.Leu709Met Missense 11/27 - 1
13-32910618-T-TA c.2126_2127insA p.Ser710Valfs*9 Frameshift 11/27 - 1
13-32910619-G-A c.2127G>A p.Leu709Leu Synonymous 11/27 - 6
13-32910619-G-C c.2127G>C p.Leu709Leu Synonymous 11/27 - 6
13-32910617-C-T c.2125C>T p.Leu709Leu Synonymous 11/27 - 4
13-32910623-T-A c.2131T>A p.Cys711Ser Missense 11/27 - 1
13-32910624-G-C c.2132G>C p.Cys711Ser Missense 11/27 - 1
13-32910625-C-T c.2133C>T p.Cys711Cys Synonymous 11/27 - 1
13-32910625-C-A c.2133C>A p.Cys711* Nonsense 11/27 - 2
13-32910628-G-T c.2136G>T p.Leu712Leu Synonymous 11/27 - 1
13-32910630-A-T c.2138A>T p.Gln713Leu Missense 11/27 - 7
13-32910630-A-C c.2138A>C p.Gln713Pro Missense 11/27 - 1
13-32910632-G-A c.2140G>A p.Glu714Lys Missense 11/27 - 1
13-32910635-GG-AC c.2143_2144delinsAC p.Gly715Thr Missense 11/27 - 1
13-32910636-G-C c.2144G>C p.Gly715Ala Missense 11/27 - 1
13-32910639-A-G c.2147A>G p.Gln716Arg Missense 11/27 - 1
13-32910642-G-A c.2150G>A p.Cys717Tyr Missense 11/27 - 1
13-32910642-TG-T c.2150del p.Cys717Leufs*13 Frameshift 11/27 - 1
13-32910643-T-A c.2151T>A p.Cys717* Nonsense 11/27 - 1
13-32910644-TG-T c.2152del p.Glu718Lysfs*12 Frameshift 11/27 - 1
13-32910645-A-C c.2153A>C p.Glu718Ala Missense 11/27 - 1
13-32910653-C-A c.2161C>A p.Pro721Thr Missense 11/27 - 1
13-32910656-A-C c.2164A>C p.Lys722Gln Missense 11/27 - 1
13-32910659-AA-A c.2167del p.Ser723Alafs*7 Frameshift 11/27 - 1
13-32910659-A-G c.2167A>G p.Ser723Gly Missense 11/27 - 1
13-32910661-C-T c.2169C>T p.Ser723Ser Synonymous 11/27 - 1
13-32910667-A-AA c.2175dup p.Val726Serfs*25 Frameshift 11/27 - 8
13-32910674-G-A c.2182G>A p.Asp728Asn Missense 11/27 - 1
13-32910675-A-T c.2183A>T p.Asp728Val Missense 11/27 - 1
13-32910675-A-C c.2183A>C p.Asp728Ala Missense 11/27 - 2
13-32910676-T-G c.2184T>G p.Asp728Glu Missense 11/27 - 1
13-32910676-T-A c.2184T>A p.Asp728Glu Missense 11/27 - 1
13-32910678-T-C c.2186T>C p.Ile729Thr Missense 11/27 - 7
13-32910680-A-AC c.2188_2189insC p.Lys730Thrfs*21 Frameshift 11/27 - 2
13-32910682-A-AT c.2190_2191insT p.Glu731* Nonsense 11/27 - 1
13-32910685-AAGAGG-A c.2193_2197del p.Glu731Aspfs*18 Frameshift 11/27 - 3
13-32910701-G-A c.2209G>A p.Ala737Thr Missense 11/27 - 1
13-32910701-G-T c.2209G>T p.Ala737Ser Missense 11/27 - 1
13-32910702-C-T c.2210C>T p.Ala737Val Missense 11/27 - 1
13-32910705-G-A c.2213G>A p.Cys738Tyr Missense 11/27 - 1
13-32910710-C-T c.2218C>T p.Pro740Ser Missense 11/27 - 1
13-32910713-G-C c.2221G>C p.Val741Leu Missense 11/27 - 1
13-32910713-G-T c.2221G>T p.Val741Leu Missense 11/27 - 1
13-32910716-C-T c.2224C>T p.Gln742* Nonsense 11/27 - 11
13-32910716-C-G c.2224C>G p.Gln742Glu Missense 11/27 - 2
13-32910716-C-A c.2224C>A p.Gln742Lys Missense 11/27 - 2
13-32910718-A-G c.2226A>G p.Gln742Gln Synonymous 11/27 - 1
13-32910719-C-A c.2227C>A p.His743Asn Missense 11/27 - 1
13-32910721-T-C c.2229T>C p.His743His Synonymous 11/27 - 40
13-32910723-C-A c.2231C>A p.Ser744* Nonsense 11/27 - 1
13-32910723-C-G c.2231C>G p.Ser744* Nonsense 11/27 - 3
13-32910725-A-G c.2233A>G p.Lys745Glu Missense 11/27 - 3
13-32910728-GTG-ATC c.2236_2238delinsATC p.Val746Ile Missense 11/27 - 1
13-32910729-T-G c.2237T>G p.Val746Gly Missense 11/27 - 1
13-32910736-ACA-A c.2244_2245del p.Tyr748* Frameshift 11/27 - 1
13-32910737-A-G c.2245A>G p.Ser749Gly Missense 11/27 - 1
13-32910743-A-C c.2251A>C p.Thr751Pro Missense 11/27 - 1
13-32910746-TGACT-T c.2254_2257del p.Asp752Phefs*19 Frameshift 11/27 - 6
13-32910751-TT-T c.2259del p.Gln754Asnfs*18 Frameshift 11/27 - 1
13-32910758-C-T c.2266C>T p.Gln756* Nonsense 11/27 - 3
13-32910761-A-T c.2269A>T p.Lys757* Nonsense 11/27 - 1
13-32910764-AG-TT c.2272_2273delinsTT p.Ser758Phe Missense 11/27 - 1
13-32910764-AA-A c.2272del p.Ser758Valfs*14 Frameshift 11/27 - 1
13-32910765-G-C c.2273G>C p.Ser758Thr Missense 11/27 - 1
13-32910766-T-G c.2274T>G p.Ser758Arg Missense 11/27 - 1
13-32910767-TC-T c.2275del p.Leu759Phefs*13 Frameshift 11/27 - 1
13-32910767-C-G c.2275C>G p.Leu759Val Missense 11/27 - 1
13-32910777-A-G c.2285A>G p.Asp762Gly Missense 11/27 - 1
13-32910779-C-CT c.2287_2288insT p.His763Leufs*2 Frameshift 11/27 - 1
13-32910779-TC-T c.2287del p.His763Metfs*9 Frameshift 11/27 - 1
13-32910782-G-A c.2290G>A p.Glu764Lys Missense 11/27 - 1
13-32910785-A-C c.2293A>C p.Asn765His Missense 11/27 - 1
13-32910788-G-A c.2296G>A p.Ala766Thr Missense 11/27 - 1
13-32910799-TT-T c.2307del p.Ile770Phefs*2 Frameshift 11/27 - 1
13-32910800-A-C c.2308A>C p.Ile770Leu Missense 11/27 - 1
13-32910801-T-A c.2309T>A p.Ile770Asn Missense 11/27 - 1
13-32910803-T-C c.2311T>C p.Leu771Leu Synonymous 11/27 - 9
13-32910804-T-A c.2312T>A p.Leu771* Nonsense 11/27 - 1
13-32910804-T-G c.2312T>G p.Leu771* Nonsense 11/27 - 1
13-32910805-A-T c.2313A>T p.Leu771Phe Missense 11/27 - 1
13-32910812-A-G c.2320A>G p.Thr774Ala Missense 11/27 - 3
13-32910815-TT-T c.2323del p.Ser775Profs*8 Frameshift 11/27 - 1
13-32910815-TC-AA c.2323_2324delinsAA p.Ser775Asn Missense 11/27 - 1
13-32910821-G-A c.2329G>A p.Asp777Asn Missense 11/27 - 1
13-32910822-A-AA c.2330dup p.Asp777Glufs*11 Frameshift 11/27 - 6
13-32910831-C-G c.2339C>G p.Ser780* Nonsense 11/27 - 8
13-32910831-C-T c.2339C>T p.Ser780Leu Missense 11/27 - 1
13-32910840-T-C c.2348T>C p.Val783Ala Missense 11/27 - 1
13-32910842-ATG-CAT c.2350_2352inv p.Met784His Missense 11/27 - 1
13-32910842-A-G c.2350A>G p.Met784Val Missense 11/27 - 26
13-32910845-A-G c.2353A>G p.Ile785Val Missense 11/27 - 1
13-32910851-AG-CA c.2359_2360delinsCA p.Arg787Gln Missense 11/27 - 1
13-32910852-G-A c.2360G>A p.Arg787Lys Missense 11/27 - 1
13-32910855-G-A c.2363G>A p.Gly788Asp Missense 11/27 - 1
13-32910859-AA-A c.2367del p.Glu790Asnfs*20 Frameshift 11/27 - 2
13-32910859-A-AT c.2367_2368insT p.Glu790* Nonsense 11/27 - 1
13-32910860-G-T c.2368G>T p.Glu790* Nonsense 11/27 - 1
13-32910860-AG-A c.2368del p.Glu790Asnfs*20 Frameshift 11/27 - 2
13-32910864-C-A c.2372C>A p.Ser791* Nonsense 11/27 - 2
13-32910868-C-G c.2376C>G p.Tyr792* Nonsense 11/27 - 5
13-32910868-C-A c.2376C>A p.Tyr792* Nonsense 11/27 - 6
13-32910878-G-A c.2386G>A p.Asp796Asn Missense 11/27 - 1
13-32910881-A-C c.2389A>C p.Lys797Gln Missense 11/27 - 1
13-32910882-A-G c.2390A>G p.Lys797Arg Missense 11/27 - 1
13-32910884-C-T c.2392C>T p.Leu798Phe Missense 11/27 - 2
13-32910887-A-T c.2395A>T p.Lys799* Nonsense 11/27 - 1
13-32910888-A-G c.2396A>G p.Lys799Arg Missense 11/27 - 2
13-32910890-G-A c.2398G>A p.Gly800Ser Missense 11/27 - 1
13-32910891-G-T c.2399G>T p.Gly800Val Missense 11/27 - 1
13-32910893-A-C c.2401A>C p.Asn801His Missense 11/27 - 1
13-32910894-AACAATTATGAATCTGATGT-A c.2402_2420del p.Asn801Metfs*3 Frameshift 11/27 - 1
13-32910894-AACAATTATGAA-A c.2402_2412del p.Asn801Ilefs*2 Frameshift 11/27 - 3
13-32910902-G-A c.2410G>A p.Glu804Lys Missense 11/27 - 1
13-32910902-G-C c.2410G>C p.Glu804Gln Missense 11/27 - 1
13-32910904-A-T c.2412A>T p.Glu804Asp Missense 11/27 - 1
13-32910904-A-G c.2412A>G p.Glu804Glu Synonymous 11/27 - 2
13-32910904-A-C c.2412A>C p.Glu804Asp Missense 11/27 - 1
13-32910908-G-A c.2416G>A p.Asp806Asn Missense 11/27 - 1
13-32910908-G-C c.2416G>C p.Asp806His Missense 11/27 - 5
13-32910908-TG-T c.2416del p.Asp806Metfs*4 Frameshift 11/27 - 1
13-32910916-A-T c.2424A>T p.Glu808Asp Missense 11/27 - 1
13-32910916-A-C c.2424A>C p.Glu808Asp Missense 11/27 - 1
13-32910918-T-G c.2426T>G p.Leu809* Nonsense 11/27 - 2
13-32910922-CC-C c.2430del p.Asn812Ilefs*13 Frameshift 11/27 - 2
13-32910927-AA-A c.2435del p.Asn812Ilefs*13 Frameshift 11/27 - 2
13-32910931-T-TT c.2439dup p.Pro814Serfs*13 Frameshift 11/27 - 1
13-32910934-CC-C c.2442del p.Met815Trpfs*10 Frameshift 11/27 - 6
13-32910938-GG-G c.2446del p.Glu816Lysfs*9 Frameshift 11/27 - 1
13-32910938-G-A c.2446G>A p.Glu816Lys Missense 11/27 - 1
13-32910939-A-T c.2447A>T p.Glu816Val Missense 11/27 - 1
13-32910946-T-A c.2454T>A p.Asn818Lys Missense 11/27 - 1
13-32910948-A-G c.2456A>G p.Gln819Arg Missense 11/27 - 1
13-32910950-G-T c.2458G>T p.Asp820Tyr Missense 11/27 - 1
13-32910951-A-G c.2459A>G p.Asp820Gly Missense 11/27 - 3
13-32910952-T-A c.2460T>A p.Asp820Glu Missense 11/27 - 1
13-32910953-G-A c.2461G>A p.Val821Ile Missense 11/27 - 2
13-32910956-T-C c.2464T>C p.Cys822Arg Missense 11/27 - 1
13-32910958-T-A c.2466T>A p.Cys822* Nonsense 11/27 - 1
13-32910958-GT-G c.2466del p.Cys822Trpfs*3 Frameshift 11/27 - 1
13-32910958-T-G c.2466T>G p.Cys822Trp Missense 11/27 - 1
13-32910963-T-G c.2471T>G p.Leu824* Nonsense 11/27 - 2
13-32910963-T-C c.2471T>C p.Leu824Ser Missense 11/27 - 1
13-32910963-TTAAATG-T c.2471_2476del p.Leu824_Glu826delins* MultiAAMissense 11/27 - 2
13-32910968-G-T c.2476G>T p.Glu826* Nonsense 11/27 - 1
13-32910968-G-A c.2476G>A p.Glu826Lys Missense 11/27 - 1
13-32910969-A-G c.2477A>G p.Glu826Gly Missense 11/27 - 1
13-32910974-T-C c.2482T>C p.Tyr828His Missense 11/27 - 1
13-32910976-T-A c.2484T>A p.Tyr828* Nonsense 11/27 - 1
13-32910976-T-G c.2484T>G p.Tyr828* Nonsense 11/27 - 1
13-32910980-A-G c.2488A>G p.Asn830Asp Missense 11/27 - 2
13-32910982-C-G c.2490C>G p.Asn830Lys Missense 11/27 - 3
13-32910982-C-A c.2490C>A p.Asn830Lys Missense 11/27 - 3
13-32910982-C-T c.2490C>T p.Asn830Asn Synonymous 11/27 - 4
13-32910983-G-A c.2491G>A p.Val831Ile Missense 11/27 - 2
13-32910984-T-C c.2492T>C p.Val831Ala Missense 11/27 - 1
13-32910985-T-TT c.2493dup p.Glu832* Nonsense 11/27 - 1
13-32910986-G-A c.2494G>A p.Glu832Lys Missense 11/27 - 1
13-32910986-G-T c.2494G>T p.Glu832* Nonsense 11/27 - 1
13-32910987-A-G c.2495A>G p.Glu832Gly Missense 11/27 - 1
13-32910989-C-G c.2497C>G p.Leu833Val Missense 11/27 - 1
13-32910994-TG-T c.2502del p.Leu834Phefs*7 Frameshift 11/27 - 1
13-32910995-C-T c.2503C>T p.Pro835Ser Missense 11/27 - 1
13-32910995-CC-TA c.2503_2504delinsTA p.Pro835* Nonsense 11/27 - 1
13-32910997-A-AA c.2505dup p.Pro836Thrfs*2 Frameshift 11/27 - 2
13-32910998-C-T c.2506C>T p.Pro836Ser Missense 11/27 - 1
13-32911002-A-G c.2510A>G p.Glu837Gly Missense 11/27 - 1
13-32911013-AGA-TGG c.2521_2523delinsTGG p.Arg841Trp Missense 11/27 - 4
13-32911013-AGA-CAT c.2521_2523delinsCAT p.Arg841His Missense 11/27 - 1
13-32911030-A-C c.2538A>C p.Ser846Ser Synonymous 11/27 - 2
13-32911030-A-G c.2538A>G p.Ser846Ser Synonymous 11/27 - 2
13-32911031-AGA-CAT c.2539_2541delinsCAT p.Arg847His Missense 11/27 - 1
13-32911034-A-C c.2542A>C p.Lys848Gln Missense 11/27 - 1
13-32911038-T-C c.2546T>C p.Val849Ala Missense 11/27 - 1
13-32911040-C-CCC c.2548_2549insCC p.Gln850Profs*9 Frameshift 11/27 - 3
13-32911042-A-G c.2550A>G p.Gln850Gln Synonymous 11/27 - 3
13-32911043-T-G c.2551T>G p.Phe851Val Missense 11/27 - 1
13-32911044-T-G c.2552T>G p.Phe851Cys Missense 11/27 - 1
13-32911053-A-G c.2561A>G p.Asn854Ser Missense 11/27 - 1
13-32911053-A-AA c.2561dup p.Asn854Lysfs*27 Frameshift 11/27 - 1
13-32911056-ACA-A c.2564_2565del p.Thr855Lysfs*25 Frameshift 11/27 - 1
13-32911058-A-T c.2566A>T p.Asn856Tyr Missense 11/27 - 1
13-32911060-T-G c.2568T>G p.Asn856Lys Missense 11/27 - 1
13-32911065-G-T c.2573G>T p.Arg858Ile Missense 11/27 - 1
13-32911066-A-AA c.2574dup p.Val859Serfs*22 Frameshift 11/27 - 1
13-32911067-GT-TC c.2575_2576delinsTC p.Val859Ser Missense 11/27 - 1
13-32911070-AA-A c.2578del p.Ile860Serfs*14 Frameshift 11/27 - 1
13-32911070-A-G c.2578A>G p.Ile860Val Missense 11/27 - 1
13-32911076-A-G c.2584A>G p.Lys862Glu Missense 11/27 - 1
13-32911077-A-G c.2585A>G p.Lys862Arg Missense 11/27 - 2
13-32911077-A-C c.2585A>C p.Lys862Thr Missense 11/27 - 1
13-32911079-A-G c.2587A>G p.Asn863Asp Missense 11/27 - 1
13-32911079-AA-GC c.2587_2588delinsGC p.Asn863Ala Missense 11/27 - 1
13-32911080-A-AA c.2588dup p.Asn863Lysfs*18 Frameshift 11/27 - 7
13-32911081-AT-A c.2589del p.Gln864Lysfs*10 Frameshift 11/27 - 3
13-32911081-T-A c.2589T>A p.Asn863Lys Missense 11/27 - 2
13-32911081-T-G c.2589T>G p.Asn863Lys Missense 11/27 - 2
13-32911082-C-T c.2590C>T p.Gln864* Nonsense 11/27 - 2
13-32911087-AA-A c.2595del p.Glu866Lysfs*8 Frameshift 11/27 - 4
13-32911088-AGAAA-A c.2596_2599del p.Glu866Leufs*7 Frameshift 11/27 - 1
13-32911094-A-G c.2602A>G p.Thr868Ala Missense 11/27 - 1
13-32911098-TC-T c.2606del p.Ser869* Frameshift 11/27 - 1
13-32911098-C-T c.2606C>T p.Ser869Leu Missense 11/27 - 2
13-32911103-TT-T c.2611del p.Ser871Glnfs*3 Frameshift 11/27 - 1
13-32911104-C-T c.2612C>T p.Ser871Leu Missense 11/27 - 6
13-32911104-C-A c.2612C>A p.Ser871* Nonsense 11/27 - 2
13-32911104-C-G c.2612C>G p.Ser871* Nonsense 11/27 - 2
13-32911107-A-G c.2615A>G p.Lys872Arg Missense 11/27 - 1
13-32911111-A-T c.2619A>T p.Ile873Ile Synonymous 11/27 - 1
13-32911111-A-C c.2619A>C p.Ile873Ile Synonymous 11/27 - 1
13-32911112-A-G c.2620A>G p.Thr874Ala Missense 11/27 - 1
13-32911118-CAA-C c.2626_2627del p.Asn876Serfs*4 Frameshift 11/27 - 1
13-32911119-AA-A c.2627del p.Asn876Ilefs*19 Frameshift 11/27 - 1
13-32911124-G-A c.2632G>A p.Asp878Asn Missense 11/27 - 1
13-32911127-T-C c.2635T>C p.Ser879Pro Missense 11/27 - 1
13-32911128-TCT-T c.2636_2637del p.Ser879* Frameshift 11/27 - 5
13-32911133-G-T c.2641G>T p.Glu881* Nonsense 11/27 - 3
13-32911136-C-T c.2644C>T p.Leu882Phe Missense 11/27 - 1
13-32911143-C-G c.2651C>G p.Ser884* Nonsense 11/27 - 2
13-32911145-AGACA-A c.2653_2656del p.Asp885Metfs*9 Frameshift 11/27 - 3
13-32911149-A-T c.2657A>T p.Asn886Ile Missense 11/27 - 1
13-32911149-AA-A c.2657del p.Asn886Metfs*9 Frameshift 11/27 - 2
13-32911163-G-C c.2671G>C p.Val891Leu Missense 11/27 - 1
13-32911164-T-TT c.2672dup p.Phe892Leufs*5 Frameshift 11/27 - 1
13-32911168-TCCAA-T c.2676_2679del p.Phe892Leufs*2 Frameshift 11/27 - 1
13-32911169-C-T c.2677C>T p.Gln893* Nonsense 11/27 - 1
13-32911170-A-G c.2678A>G p.Gln893Arg Missense 11/27 - 2
13-32911172-AG-A c.2680del p.Val894* Frameshift 11/27 - 1
13-32911172-G-A c.2680G>A p.Val894Ile Missense 11/27 - 5
13-32911175-G-A c.2683G>A p.Ala895Thr Missense 11/27 - 3
13-32911176-GCTAA-G c.2684_2687del p.Ala895Valfs*8 Frameshift 11/27 - 2
13-32911179-AA-A c.2687del p.Asn896Metfs*8 Frameshift 11/27 - 1
13-32911184-A-G c.2692A>G p.Arg898Gly Missense 11/27 - 1
13-32911186-G-GG c.2694dup p.Asn899Glufs*2 Frameshift 11/27 - 1
13-32911188-A-T c.2696A>T p.Asn899Ile Missense 11/27 - 1
13-32911190-A-G c.2698A>G p.Asn900Asp Missense 11/27 - 1
13-32911193-C-A c.2701C>A p.Leu901Ile Missense 11/27 - 1
13-32911193-TC-T c.2701del p.Ala902Leufs*2 Frameshift 11/27 - 6
13-32911201-A-T c.2709A>T p.Leu903Phe Missense 11/27 - 1
13-32911201-A-C c.2709A>C p.Leu903Phe Missense 11/27 - 1
13-32911201-A-G c.2709A>G p.Leu903Leu Synonymous 11/27 - 1
13-32911202-G-C c.2710G>C p.Gly904Arg Missense 11/27 - 1
13-32911202-G-A c.2710G>A p.Gly904Arg Missense 11/27 - 1
13-32911208-A-G c.2716A>G p.Thr906Ala Missense 11/27 - 1
13-32911212-A-G c.2720A>G p.Lys907Arg Missense 11/27 - 1
13-32911214-G-A c.2722G>A p.Glu908Lys Missense 11/27 - 1
13-32911214-G-T c.2722G>T p.Glu908* Nonsense 11/27 - 2
13-32911220-C-T c.2728C>T p.His910Tyr Missense 11/27 - 1
13-32911221-A-G c.2729A>G p.His910Arg Missense 11/27 - 1
13-32911222-T-C c.2730T>C p.His910His Synonymous 11/27 - 1
13-32911223-TG-T c.2731del p.Glu911Lysfs*4 Frameshift 11/27 - 1
13-32911226-A-AA c.2734dup p.Thr912Asnfs*24 Frameshift 11/27 - 2
13-32911231-C-T c.2739C>T p.Asp913Asp Synonymous 11/27 - 1
13-32911234-G-T c.2742G>T p.Leu914Phe Missense 11/27 - 1
13-32911234-G-C c.2742G>C p.Leu914Phe Missense 11/27 - 1
13-32911238-TG-AC c.2746_2747delinsAC p.Cys916Thr Missense 11/27 - 1
13-32911246-AC-A c.2754del p.Asn918Lysfs*42 Frameshift 11/27 - 1
13-32911247-G-A c.2755G>A p.Glu919Lys Missense 11/27 - 1
13-32911250-C-T c.2758C>T p.Pro920Ser Missense 11/27 - 2
13-32911257-T-G c.2765T>G p.Phe922Cys Missense 11/27 - 1
13-32911260-A-G c.2768A>G p.Lys923Arg Missense 11/27 - 1
13-32911263-A-T c.2771A>T p.Asn924Ile Missense 11/27 - 1
13-32911267-T-TT c.2775dup p.Thr926Tyrfs*10 Frameshift 11/27 - 1
13-32911271-A-G c.2779A>G p.Met927Val Missense 11/27 - 2
13-32911273-G-A c.2781G>A p.Met927Ile Missense 11/27 - 2
13-32911278-TT-T c.2786del p.Leu929Tyrfs*31 Frameshift 11/27 - 1
13-32911278-T-TT c.2786dup p.Leu929Phefs*7 Frameshift 11/27 - 3
13-32911278-T-G c.2786T>G p.Leu929* Nonsense 11/27 - 1
13-32911278-T-C c.2786T>C p.Leu929Ser Missense 11/27 - 10
13-32911284-GA-AC c.2792_2793delinsAC p.Gly931Asp Missense 11/27 - 1
13-32911286-G-A c.2794G>A p.Asp932Asn Missense 11/27 - 1
13-32911290-AC-A c.2798del p.Thr933Lysfs*27 Frameshift 11/27 - 2
13-32911290-ACA-A c.2798_2799del p.Thr933Argfs*2 Frameshift 11/27 - 10
13-32911292-AGG-A c.2800_2801del p.Gly934* Frameshift 11/27 - 1
13-32911295-GAT-AAG c.2803_2805delinsAAG p.Asp935Lys Missense 11/27 - 1
13-32911295-G-T c.2803G>T p.Asp935Tyr Missense 11/27 - 8
13-32911295-G-C c.2803G>C p.Asp935His Missense 11/27 - 12
13-32911295-G-A c.2803G>A p.Asp935Asn Missense 11/27 - 27
13-32911297-T-TT c.2805dup p.Lys936* Nonsense 11/27 - 7
13-32911297-ATAAA-A c.2805_2808del p.Ala938Profs*21 Frameshift 11/27 - 7
13-32911300-AA-A c.2808del p.Lys936Asnfs*24 Frameshift 11/27 - 10
13-32911300-AACAA-A c.2808_2811del p.Ala938Profs*21 Frameshift 11/27 - 90
13-32911301-AC-A c.2809del p.Gln937Lysfs*23 Frameshift 11/27 - 1
13-32911301-C-A c.2809C>A p.Gln937Lys Missense 11/27 - 1
13-32911304-AGCAA-A c.2812_2815del p.Ala938Profs*21 Frameshift 11/27 - 7
13-32911305-C-A c.2813C>A p.Ala938Glu Missense 11/27 - 1
13-32911309-C-T c.2817C>T p.Thr939Thr Synonymous 11/27 - 1
13-32911311-A-G c.2819A>G p.Gln940Arg Missense 11/27 - 1
13-32911312-A-G c.2820A>G p.Gln940Gln Synonymous 11/27 - 1
13-32911312-AA-A c.2820del p.Val941Cysfs*19 Frameshift 11/27 - 1
13-32911313-G-A c.2821G>A p.Val941Met Missense 11/27 - 1
13-32911316-GT-G c.2824del p.Ser942Glnfs*18 Frameshift 11/27 - 1
13-32911319-A-G c.2827A>G p.Ile943Val Missense 11/27 - 1
13-32911319-A-T c.2827A>T p.Ile943Phe Missense 11/27 - 1
13-32911320-ATTAA-A c.2828_2831del p.Ile943Lysfs*16 Frameshift 11/27 - 1
13-32911322-A-T c.2830A>T p.Lys944* Nonsense 11/27 - 28
13-32911327-AA-A c.2835del p.Asp946Ilefs*14 Frameshift 11/27 - 4
13-32911328-G-C c.2836G>C p.Asp946His Missense 11/27 - 1
13-32911329-A-G c.2837A>G p.Asp946Gly Missense 11/27 - 1
13-32911333-G-T c.2841G>T p.Leu947Phe Missense 11/27 - 2
13-32911334-G-A c.2842G>A p.Val948Ile Missense 11/27 - 2
13-32911337-TT-T c.2845del p.Tyr949Metfs*11 Frameshift 11/27 - 3
13-32911338-A-AA c.2846dup p.Tyr949* Nonsense 11/27 - 1
13-32911340-G-A c.2848G>A p.Val950Ile Missense 11/27 - 3
13-32911340-G-C c.2848G>C p.Val950Leu Missense 11/27 - 1
13-32911343-C-A c.2851C>A p.Leu951Ile Missense 11/27 - 1
13-32911346-GCA-ATG c.2854_2856delinsATG p.Ala952Met Missense 11/27 - 1
13-32911347-C-A c.2855C>A p.Ala952Glu Missense 11/27 - 1
13-32911349-G-T c.2857G>T p.Glu953* Nonsense 11/27 - 1
13-32911352-G-T c.2860G>T p.Glu954* Nonsense 11/27 - 1
13-32911357-AC-A c.2865del p.Asn955Lysfs*5 Frameshift 11/27 - 1
13-32911359-A-C c.2867A>C p.Lys956Thr Missense 11/27 - 1
13-32911360-A-AT c.2868_2869insT p.Asn957* Nonsense 11/27 - 1
13-32911366-T-G c.2874T>G p.Ser958Arg Missense 11/27 - 1
13-32911366-T-A c.2874T>A p.Ser958Arg Missense 11/27 - 1
13-32911364-A-C c.2872A>C p.Ser958Arg Missense 11/27 - 1
13-32911375-G-A c.2883G>A p.Gln961Gln Synonymous 11/27 - 9
13-32911378-T-C c.2886T>C p.His962His Synonymous 11/27 - 1
13-32911384-A-T c.2892A>T p.Lys964Asn Missense 11/27 - 2
13-32911387-G-C c.2895G>C p.Met965Ile Missense 11/27 - 2
13-32911391-CTA-TTT c.2899_2901delinsTTT p.Leu967Phe Missense 11/27 - 1
13-32911391-TCT-T c.2899_2900del p.Leu967Argfs*14 Frameshift 11/27 - 2
13-32911393-A-ACT c.2901_2902insCT p.Gly968Leufs*5 Frameshift 11/27 - 1
13-32911394-G-C c.2902G>C p.Gly968Arg Missense 11/27 - 1
13-32911397-C-T c.2905C>T p.Gln969* Nonsense 11/27 - 5
13-32911404-T-G c.2912T>G p.Leu971* Nonsense 11/27 - 1
13-32911404-T-C c.2912T>C p.Leu971Ser Missense 11/27 - 1
13-32911410-C-A c.2918C>A p.Ser973* Nonsense 11/27 - 1
13-32911411-G-A c.2919G>A p.Ser973Ser Synonymous 11/27 - 3
13-32911412-G-A c.2920G>A p.Asp974Asn Missense 11/27 - 1
13-32911413-A-T c.2921A>T p.Asp974Val Missense 11/27 - 1
13-32911416-T-G c.2924T>G p.Ile975Ser Missense 11/27 - 1
13-32911418-T-A c.2926T>A p.Ser976Thr Missense 11/27 - 1
13-32911418-TC-AT c.2926_2927delinsAT p.Ser976Ile Missense 11/27 - 3
13-32911419-C-T c.2927C>T p.Ser976Phe Missense 11/27 - 3
13-32911420-CC-C c.2928del p.Leu977* Frameshift 11/27 - 1
13-32911426-T-G c.2934T>G p.Asn978Lys Missense 11/27 - 1
13-32911429-TA-T c.2937del p.Ile979Metfs*12 Frameshift 11/27 - 1
13-32911436-A-C c.2944A>C p.Ile982Leu Missense 11/27 - 4
13-32911436-AA-A c.2944del p.Ile982Tyrfs*9 Frameshift 11/27 - 1
13-32911437-ATA-A c.2945_2946del p.Ile982Thrfs*5 Frameshift 11/27 - 1
13-32911438-A-T c.2946A>T p.Ile982Ile Synonymous 11/27 - 1
13-32911438-A-C c.2946A>C p.Ile982Ile Synonymous 11/27 - 3
13-32911438-A-G c.2946A>G p.Ile982Met Missense 11/27 - 3
13-32911442-G-T c.2950G>T p.Glu984* Nonsense 11/27 - 1
13-32911444-A-G c.2952A>G p.Glu984Glu Synonymous 11/27 - 1
13-32911446-AAAAA-A c.2954_2957del p.Lys985Ilefs*5 Frameshift 11/27 - 1
13-32911447-A-AT c.2955_2956insT p.Asn986* Nonsense 11/27 - 1
13-32911449-A-AA c.2957dup p.Asn986Lysfs*2 Frameshift 11/27 - 5
13-32911449-A-AG c.2957_2958insG p.Asn986Lysfs*2 Frameshift 11/27 - 4
13-32911449-A-T c.2957A>T p.Asn986Ile Missense 11/27 - 1
13-32911449-A-G c.2957A>G p.Asn986Ser Missense 11/27 - 3
13-32911449-AA-A c.2957del p.Asn986Ilefs*5 Frameshift 11/27 - 3
13-32911451-TAAT-T c.2959_2961del p.Asn987del InFrameDeletion 11/27 - 1
13-32911452-A-T c.2960A>T p.Asn987Ile Missense 11/27 - 7
13-32911452-A-G c.2960A>G p.Asn987Ser Missense 11/27 - 2
13-32911454-G-T c.2962G>T p.Asp988Tyr Missense 11/27 - 1
13-32911455-A-C c.2963A>C p.Asp988Ala Missense 11/27 - 2
13-32911463-A-G c.2971A>G p.Asn991Asp Missense 11/27 - 102
13-32911464-A-G c.2972A>G p.Asn991Ser Missense 11/27 - 1
13-32911471-G-A c.2979G>A p.Trp993* Nonsense 11/27 - 1
13-32911481-T-TAA c.2989_2990insAA p.Leu997* Nonsense 11/27 - 1
13-32911481-T-G c.2989T>G p.Leu997Val Missense 11/27 - 1
13-32911482-T-G c.2990T>G p.Leu997* Nonsense 11/27 - 4
13-32911483-TAGGT-T c.2991_2994del p.Leu997Phefs*45 Frameshift 11/27 - 1
13-32911484-AGGTC-A c.2992_2995del p.Gly998Glnfs*44 Frameshift 11/27 - 1
13-32911485-GT-AG c.2993_2994delinsAG p.Gly998Glu Missense 11/27 - 1
13-32911485-G-A c.2993G>A p.Gly998Asp Missense 11/27 - 2
13-32911488-C-T c.2996C>T p.Pro999Leu Missense 11/27 - 1
13-32911490-A-C c.2998A>C p.Ile1000Leu Missense 11/27 - 1
13-32911493-TT-T c.3001del p.Ser1001Glnfs*42 Frameshift 11/27 - 1
13-32911494-C-G c.3002C>G p.Ser1001* Nonsense 11/27 - 2
13-32911494-C-A c.3002C>A p.Ser1001* Nonsense 11/27 - 2
13-32911499-C-G c.3007C>G p.His1003Asp Missense 11/27 - 2
13-32911503-G-A c.3011G>A p.Ser1004Asn Missense 11/27 - 1
13-32911507-TT-T c.3015del p.Phe1005Leufs*38 Frameshift 11/27 - 1
13-32911509-GGAGG-G c.3017_3020del p.Gly1006Valfs*36 Frameshift 11/27 - 1
13-32911510-GA-G c.3018del p.Gly1007Valfs*36 Frameshift 11/27 - 4
13-32911514-AG-GC c.3022_3023delinsGC p.Ser1008Ala Missense 11/27 - 1
13-32911516-C-A c.3024C>A p.Ser1008Arg Missense 11/27 - 1
13-32911516-C-G c.3024C>G p.Ser1008Arg Missense 11/27 - 1
13-32911514-A-C c.3022A>C p.Ser1008Arg Missense 11/27 - 1
13-32911521-G-A c.3029G>A p.Arg1010Lys Missense 11/27 - 1
13-32911522-GAACA-G c.3030_3033del p.Thr1011Leufs*31 Frameshift 11/27 - 1
13-32911523-A-G c.3031A>G p.Thr1011Ala Missense 11/27 - 2
13-32911524-C-G c.3032C>G p.Thr1011Arg Missense 11/27 - 7
13-32911524-C-T c.3032C>T p.Thr1011Ile Missense 11/27 - 3
13-32911526-AG-A c.3034del p.Ala1012Leufs*31 Frameshift 11/27 - 3
13-32911528-CTTCA-C c.3036_3039del p.Ser1013Ilefs*29 Frameshift 11/27 - 1
13-32911530-C-G c.3038C>G p.Ser1013* Nonsense 11/27 - 1
13-32911533-AATAA-A c.3041_3044del p.Asn1014Argfs*28 Frameshift 11/27 - 1
13-32911533-A-G c.3041A>G p.Asn1014Ser Missense 11/27 - 1
13-32911535-A-G c.3043A>G p.Lys1015Glu Missense 11/27 - 1
13-32911538-G-T c.3046G>T p.Glu1016* Nonsense 11/27 - 1
13-32911538-G-A c.3046G>A p.Glu1016Lys Missense 11/27 - 1
13-32911542-T-C c.3050T>C p.Ile1017Thr Missense 11/27 - 1
13-32911542-T-G c.3050T>G p.Ile1017Ser Missense 11/27 - 1
13-32911544-A-C c.3052A>C p.Lys1018Gln Missense 11/27 - 1
13-32911547-C-G c.3055C>G p.Leu1019Val Missense 11/27 - 14
13-32911548-T-C c.3056T>C p.Leu1019Pro Missense 11/27 - 1
13-32911550-T-C c.3058T>C p.Ser1020Pro Missense 11/27 - 2
13-32911551-TCT-T c.3059_3060del p.Ser1020* Frameshift 11/27 - 1
13-32911553-G-A c.3061G>A p.Glu1021Lys Missense 11/27 - 2
13-32911554-A-G c.3062A>G p.Glu1021Gly Missense 11/27 - 1
13-32911560-A-AA c.3068dup p.Asn1023Lysfs*3 Frameshift 11/27 - 3
13-32911560-AA-A c.3068del p.Asn1023Thrfs*20 Frameshift 11/27 - 1
13-32911561-ACATTAA-A c.3069_3074del p.Asn1023_Ile1024del InFrameDeletion 11/27 - 1
13-32911562-A-G c.3070A>G p.Ile1024Val Missense 11/27 - 1
13-32911565-A-G c.3073A>G p.Lys1025Glu Missense 11/27 - 2
13-32911565-A-T c.3073A>T p.Lys1025* Nonsense 11/27 - 1
13-32911567-G-T c.3075G>T p.Lys1025Asn Missense 11/27 - 1
13-32911567-GA-TT c.3075_3076delinsTT p.Lys1025_Lys1026delinsAsn* MultiAAMissense 11/27 - 1
13-32911568-A-T c.3076A>T p.Lys1026* Nonsense 11/27 - 2
13-32911571-A-G c.3079A>G p.Ser1027Gly Missense 11/27 - 1
13-32911578-AT-A c.3086del p.Met1029Serfs*14 Frameshift 11/27 - 3
13-32911580-T-G c.3088T>G p.Phe1030Val Missense 11/27 - 1
13-32911587-A-T c.3095A>T p.Lys1032Ile Missense 11/27 - 1
13-32911588-AAGATATTGAAGAACAA-A c.3096_3111del p.Lys1032Asnfs*6 Frameshift 11/27 - 1
13-32911593-T-C c.3101T>C p.Ile1034Thr Missense 11/27 - 1
13-32911593-T-G c.3101T>G p.Ile1034Ser Missense 11/27 - 1
13-32911595-G-T c.3103G>T p.Glu1035* Nonsense 11/27 - 3
13-32911596-A-G c.3104A>G p.Glu1035Gly Missense 11/27 - 1
13-32911601-C-T c.3109C>T p.Gln1037* Nonsense 11/27 - 38
13-32911601-C-A c.3109C>A p.Gln1037Lys Missense 11/27 - 3
13-32911603-A-G c.3111A>G p.Gln1037Gln Synonymous 11/27 - 1
13-32911605-A-G c.3113A>G p.Tyr1038Cys Missense 11/27 - 6
13-32911606-T-A c.3114T>A p.Tyr1038* Nonsense 11/27 - 1
13-32911606-T-G c.3114T>G p.Tyr1038* Nonsense 11/27 - 1
13-32911617-T-G c.3125T>G p.Leu1042* Nonsense 11/27 - 1
13-32911617-T-A c.3125T>A p.Leu1042* Nonsense 11/27 - 1
13-32911620-C-G c.3128C>G p.Ala1043Gly Missense 11/27 - 1
13-32911623-G-T c.3131G>T p.Cys1044Phe Missense 11/27 - 1
13-32911633-T-G c.3141T>G p.Ile1047Met Missense 11/27 - 2
13-32911648-A-C c.3156A>C p.Ala1052Ala Synonymous 11/27 - 1
13-32911650-T-G c.3158T>G p.Leu1053* Nonsense 11/27 - 9
13-32911652-AGATA-A c.3160_3163del p.Asp1054Ilefs*5 Frameshift 11/27 - 1
13-32911654-T-TT c.3162dup p.Asn1055* Nonsense 11/27 - 1
13-32911657-ATCAA-A c.3165_3168del p.Asn1055Lysfs*4 Frameshift 11/27 - 2
13-32911658-C-A c.3166C>A p.Gln1056Lys Missense 11/27 - 2
13-32911658-C-T c.3166C>T p.Gln1056* Nonsense 11/27 - 6
13-32911658-TC-T c.3166del p.Gln1056Lysfs*4 Frameshift 11/27 - 1
13-32911659-CAAAA-C c.3167_3170del p.Gln1056Argfs*3 Frameshift 11/27 - 3
13-32911662-A-G c.3170A>G p.Lys1057Arg Missense 11/27 - 2
13-32911662-AAGAAA-A c.3170_3174del p.Lys1057Thrfs*8 Frameshift 11/27 - 10
13-32911663-G-A c.3171G>A p.Lys1057Lys Synonymous 11/27 - 1
13-32911664-A-T c.3172A>T p.Lys1058* Nonsense 11/27 - 1
13-32911665-A-G c.3173A>G p.Lys1058Arg Missense 11/27 - 1
13-32911667-CT-TA c.3175_3176delinsTA p.Leu1059* Nonsense 11/27 - 1
13-32911674-A-G c.3182A>G p.Lys1061Arg Missense 11/27 - 1
13-32911674-AA-A c.3182del p.Lys1061Serfs*16 Frameshift 11/27 - 2
13-32911676-C-G c.3184C>G p.Pro1062Ala Missense 11/27 - 1
13-32911676-C-T c.3184C>T p.Pro1062Ser Missense 11/27 - 1
13-32911678-T-C c.3186T>C p.Pro1062Pro Synonymous 11/27 - 1
13-32911679-C-A c.3187C>A p.Gln1063Lys Missense 11/27 - 1
13-32911679-C-T c.3187C>T p.Gln1063* Nonsense 11/27 - 2
13-32911680-A-T c.3188A>T p.Gln1063Leu Missense 11/27 - 1
13-32911681-AGTCA-A c.3189_3192del p.Ser1064Leufs*12 Frameshift 11/27 - 5
13-32911683-C-A c.3191C>A p.Ser1064* Nonsense 11/27 - 1
13-32911683-C-G c.3191C>G p.Ser1064* Nonsense 11/27 - 1
13-32911686-T-C c.3194T>C p.Ile1065Thr Missense 11/27 - 1
13-32911687-TTAAT-T c.3195_3198del p.Asn1066Leufs*10 Frameshift 11/27 - 14
13-32911689-A-AA c.3197dup p.Asn1066Lysfs*10 Frameshift 11/27 - 2
13-32911691-A-G c.3199A>G p.Thr1067Ala Missense 11/27 - 1
13-32911691-TA-T c.3199del p.Thr1067Leufs*10 Frameshift 11/27 - 2
13-32911694-TG-T c.3202del p.Val1068Tyrfs*9 Frameshift 11/27 - 2
13-32911698-C-T c.3206C>T p.Ser1069Phe Missense 11/27 - 1
13-32911700-G-T c.3208G>T p.Ala1070Ser Missense 11/27 - 1
13-32911703-C-T c.3211C>T p.His1071Tyr Missense 11/27 - 1
13-32911708-A-G c.3216A>G p.Leu1072Leu Synonymous 11/27 - 1
13-32911709-C-T c.3217C>T p.Gln1073* Nonsense 11/27 - 1
13-32911710-A-G c.3218A>G p.Gln1073Arg Missense 11/27 - 4
13-32911711-G-T c.3219G>T p.Gln1073His Missense 11/27 - 1
13-32911711-G-C c.3219G>C p.Gln1073His Missense 11/27 - 1
13-32911712-A-T c.3220A>T p.Ser1074Cys Missense 11/27 - 3
13-32911712-A-G c.3220A>G p.Ser1074Gly Missense 11/27 - 1
13-32911720-TAG-T c.3228_3229del p.Val1077Cysfs*3 Frameshift 11/27 - 5
13-32911727-TT-T c.3235del p.Ser1079Leufs*8 Frameshift 11/27 - 1
13-32911730-G-A c.3238G>A p.Asp1080Asn Missense 11/27 - 1
13-32911731-A-C c.3239A>C p.Asp1080Ala Missense 11/27 - 1
13-32911737-A-G c.3245A>G p.Lys1082Arg Missense 11/27 - 2
13-32911739-A-G c.3247A>G p.Asn1083Asp Missense 11/27 - 1
13-32911740-AA-A c.3248del p.Asn1083Ilefs*4 Frameshift 11/27 - 1
13-32911740-A-G c.3248A>G p.Asn1083Ser Missense 11/27 - 1
13-32911744-T-C c.3252T>C p.Ser1084Ser Synonymous 11/27 - 1
13-32911748-A-AA c.3256dup p.Ile1086Asnfs*13 Frameshift 11/27 - 1
13-32911748-A-G c.3256A>G p.Ile1086Val Missense 11/27 - 3
13-32911748-A-T c.3256A>T p.Ile1086Leu Missense 11/27 - 1
13-32911749-ATA-A c.3257_3258del p.Ile1086Asnfs*12 Frameshift 11/27 - 1
13-32911752-C-G c.3260C>G p.Thr1087Ser Missense 11/27 - 1
13-32911752-C-T c.3260C>T p.Thr1087Ile Missense 11/27 - 1
13-32911754-C-G c.3262C>G p.Pro1088Ala Missense 11/27 - 1
13-32911754-C-T c.3262C>T p.Pro1088Ser Missense 11/27 - 5
13-32911755-CC-C c.3263del p.Pro1088Leufs*16 Frameshift 11/27 - 2
13-32911755-C-CC c.3263dup p.Gln1089Serfs*10 Frameshift 11/27 - 3
13-32911756-T-TTT c.3264_3265insTT p.Gln1089Phefs*16 Frameshift 11/27 - 1
13-32911756-T-C c.3264T>C p.Pro1088Pro Synonymous 11/27 - 7
13-32911756-T-TT c.3264dup p.Gln1089Serfs*10 Frameshift 11/27 - 21
13-32911757-C-T c.3265C>T p.Gln1089* Nonsense 11/27 - 6
13-32911758-CA-C c.3266del p.Gln1089Argfs*15 Frameshift 11/27 - 1
13-32911761-AT-A c.3269del p.Met1090Serfs*14 Frameshift 11/27 - 2
13-32911764-T-A c.3272T>A p.Leu1091* Nonsense 11/27 - 1
13-32911773-A-T c.3281A>T p.Lys1094Met Missense 11/27 - 1
13-32911775-C-T c.3283C>T p.Gln1095* Nonsense 11/27 - 1
13-32911778-G-A c.3286G>A p.Asp1096Asn Missense 11/27 - 1
13-32911778-GG-G c.3286del p.Asp1096Ilefs*8 Frameshift 11/27 - 2
13-32911780-T-G c.3288T>G p.Asp1096Glu Missense 11/27 - 1
13-32911780-T-A c.3288T>A p.Asp1096Glu Missense 11/27 - 1
13-32911788-C-A c.3296C>A p.Ser1099* Nonsense 11/27 - 2
13-32911788-C-G c.3296C>G p.Ser1099* Nonsense 11/27 - 2
13-32911788-TC-T c.3296del p.Ser1099* Frameshift 11/27 - 1
13-32911790-AAAC-A c.3298_3300del p.Asn1100del InFrameDeletion 11/27 - 1
13-32911791-A-C c.3299A>C p.Asn1100Thr Missense 11/27 - 2
13-32911794-A-G c.3302A>G p.His1101Arg Missense 11/27 - 1
13-32911796-A-C c.3304A>C p.Asn1102His Missense 11/27 - 1
13-32911796-A-T c.3304A>T p.Asn1102Tyr Missense 11/27 - 5
13-32911802-A-AA c.3310dup p.Thr1104Asnfs*3 Frameshift 11/27 - 1
13-32911808-A-G c.3316A>G p.Ser1106Gly Missense 11/27 - 1
13-32911810-C-A c.3318C>A p.Ser1106Arg Missense 11/27 - 1
13-32911810-C-G c.3318C>G p.Ser1106Arg Missense 11/27 - 2
13-32911811-C-T c.3319C>T p.Gln1107* Nonsense 11/27 - 1
13-32911811-C-G c.3319C>G p.Gln1107Glu Missense 11/27 - 1
13-32911813-A-C c.3321A>C p.Gln1107His Missense 11/27 - 1
13-32911814-A-T c.3322A>T p.Lys1108* Nonsense 11/27 - 1
13-32911815-AA-A c.3323del p.Lys1108Argfs*11 Frameshift 11/27 - 1
13-32911818-C-T c.3326C>T p.Ala1109Val Missense 11/27 - 3
13-32911820-G-A c.3328G>A p.Glu1110Lys Missense 11/27 - 1
13-32911821-A-C c.3329A>C p.Glu1110Ala Missense 11/27 - 1
13-32911821-A-T c.3329A>T p.Glu1110Val Missense 11/27 - 1
13-32911824-T-C c.3332T>C p.Ile1111Thr Missense 11/27 - 1
13-32911829-G-T c.3337G>T p.Glu1113* Nonsense 11/27 - 1
13-32911831-AA-A c.3339del p.Glu1113Aspfs*6 Frameshift 11/27 - 1
13-32911835-TT-T c.3343del p.Ser1115Leufs*4 Frameshift 11/27 - 2
13-32911837-CT-C c.3345del p.Thr1116Leufs*3 Frameshift 11/27 - 2
13-32911841-A-G c.3349A>G p.Ile1117Val Missense 11/27 - 4
13-32911844-T-A c.3352T>A p.Leu1118Ile Missense 11/27 - 1
13-32911844-ATTAGA-A c.3352_3356del p.Leu1118Argfs*7 Frameshift 11/27 - 1
13-32911845-T-A c.3353T>A p.Leu1118* Nonsense 11/27 - 1
13-32911845-T-G c.3353T>G p.Leu1118* Nonsense 11/27 - 1
13-32911847-AGA-A c.3355_3356del p.Glu1119Argfs*7 Frameshift 11/27 - 1
13-32911850-AG-A c.3358del p.Glu1120Asnfs*30 Frameshift 11/27 - 1
13-32911851-A-T c.3359A>T p.Glu1120Val Missense 11/27 - 1
13-32911854-C-G c.3362C>G p.Ser1121* Nonsense 11/27 - 4
13-32911857-GG-G c.3365del p.Gly1122Glufs*28 Frameshift 11/27 - 1
13-32911859-AG-TA c.3367_3368delinsTA p.Ser1123Tyr Missense 11/27 - 1
13-32911862-C-G c.3370C>G p.Gln1124Glu Missense 11/27 - 1
13-32911868-G-A c.3376G>A p.Glu1126Lys Missense 11/27 - 1
13-32911873-TT-T c.3381del p.Phe1127Leufs*23 Frameshift 11/27 - 8
13-32911877-C-T c.3385C>T p.Gln1129* Nonsense 11/27 - 1
13-32911882-TTAGA-T c.3390_3393del p.Phe1130Leufs*19 Frameshift 11/27 - 1
13-32911883-A-G c.3391A>G p.Arg1131Gly Missense 11/27 - 1
13-32911887-A-G c.3395A>G p.Lys1132Arg Missense 11/27 - 2
13-32911888-A-C c.3396A>C p.Lys1132Asn Missense 11/27 - 36
13-32911888-A-G c.3396A>G p.Lys1132Lys Synonymous 11/27 - 74
13-32911890-CC-C c.3398del p.Pro1133Glnfs*17 Frameshift 11/27 - 1
13-32911893-AG-A c.3401del p.Ser1134Thrfs*16 Frameshift 11/27 - 1
13-32911897-C-A c.3405C>A p.Tyr1135* Nonsense 11/27 - 1
13-32911900-A-AA c.3408dup p.Leu1137Ilefs*7 Frameshift 11/27 - 2
13-32911906-G-A c.3414G>A p.Gln1138Gln Synonymous 11/27 - 1
13-32911907-A-G c.3415A>G p.Lys1139Glu Missense 11/27 - 1
13-32911907-A-C c.3415A>C p.Lys1139Gln Missense 11/27 - 1
13-32911909-G-A c.3417G>A p.Lys1139Lys Synonymous 11/27 - 2
13-32911910-A-G c.3418A>G p.Ser1140Gly Missense 11/27 - 1
13-32911912-T-C c.3420T>C p.Ser1140Ser Synonymous 11/27 - 2
13-32911912-T-TT c.3420dup p.Thr1141Tyrfs*3 Frameshift 11/27 - 1
13-32911917-T-C c.3425T>C p.Phe1142Ser Missense 11/27 - 1
13-32911927-T-C c.3435T>C p.Pro1145Pro Synonymous 11/27 - 1
13-32911932-A-T c.3440A>T p.Asn1147Ile Missense 11/27 - 1
13-32911932-A-AA c.3440dup p.Asn1147Lysfs*11 Frameshift 11/27 - 1
13-32911935-A-G c.3443A>G p.Gln1148Arg Missense 11/27 - 1
13-32911937-A-G c.3445A>G p.Met1149Val Missense 11/27 - 10
13-32911938-T-C c.3446T>C p.Met1149Thr Missense 11/27 - 1
13-32911940-A-T c.3448A>T p.Thr1150Ser Missense 11/27 - 1
13-32911943-A-T c.3451A>T p.Ile1151Phe Missense 11/27 - 1
13-32911947-T-G c.3455T>G p.Leu1152* Nonsense 11/27 - 2
13-32911950-A-G c.3458A>G p.Lys1153Arg Missense 11/27 - 1
13-32911952-GA-G c.3460del p.Thr1154Profs*14 Frameshift 11/27 - 1
13-32911952-A-T c.3460A>T p.Thr1154Ser Missense 11/27 - 1
13-32911953-C-G c.3461C>G p.Thr1154Ser Missense 11/27 - 1
13-32911954-C-G c.3462C>G p.Thr1154Thr Synonymous 11/27 - 5
13-32911954-C-T c.3462C>T p.Thr1154Thr Synonymous 11/27 - 4
13-32911965-A-G c.3473A>G p.Glu1158Gly Missense 11/27 - 1
13-32911967-T-G c.3475T>G p.Cys1159Gly Missense 11/27 - 1
13-32911967-T-A c.3475T>A p.Cys1159Ser Missense 11/27 - 1
13-32911968-TG-T c.3476del p.Cys1159Serfs*9 Frameshift 11/27 - 1
13-32911971-G-A c.3479G>A p.Arg1160Lys Missense 11/27 - 4
13-32911973-AGATGCTGATCT-A c.3481_3491del p.Asp1161Serfs*19 Frameshift 11/27 - 3
13-32911976-G-A c.3484G>A p.Ala1162Thr Missense 11/27 - 1
13-32911979-TG-T c.3487del p.Asp1163Ilefs*5 Frameshift 11/27 - 2
13-32911979-TGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAATT-T c.3487_3545del p.Asp1163* Frameshift 11/27 - 1
13-32911981-T-A c.3489T>A p.Asp1163Glu Missense 11/27 - 1
13-32911981-T-G c.3489T>G p.Asp1163Glu Missense 11/27 - 1
13-32911984-T-TT c.3492dup p.His1165Serfs*19 Frameshift 11/27 - 1
13-32911991-A-G c.3499A>G p.Ile1167Val Missense 11/27 - 1
13-32911996-G-C c.3504G>C p.Met1168Ile Missense 11/27 - 2
13-32911996-G-T c.3504G>T p.Met1168Ile Missense 11/27 - 2
13-32911998-A-G c.3506A>G p.Asn1169Ser Missense 11/27 - 1
13-32912000-G-C c.3508G>C p.Ala1170Pro Missense 11/27 - 2
13-32912001-C-T c.3509C>T p.Ala1170Val Missense 11/27 - 3
13-32912004-C-T c.3512C>T p.Pro1171Leu Missense 11/27 - 1
13-32912005-A-T c.3513A>T p.Pro1171Pro Synonymous 11/27 - 1
13-32912007-C-T c.3515C>T p.Ser1172Leu Missense 11/27 - 16
13-32912007-C-G c.3515C>G p.Ser1172Trp Missense 11/27 - 4
13-32912007-C-A c.3515C>A p.Ser1172* Nonsense 11/27 - 3
13-32912008-G-T c.3516G>T p.Ser1172Ser Synonymous 11/27 - 9
13-32912008-G-A c.3516G>A p.Ser1172Ser Synonymous 11/27 - 11
13-32912011-T-G c.3519T>G p.Ile1173Met Missense 11/27 - 1
13-32912013-G-A c.3521G>A p.Gly1174Asp Missense 11/27 - 1
13-32912018-G-GG c.3526dup p.Val1176Glyfs*8 Frameshift 11/27 - 1
13-32912030-A-C c.3538A>C p.Lys1180Gln Missense 11/27 - 1
13-32912031-A-G c.3539A>G p.Lys1180Arg Missense 11/27 - 1
13-32912032-G-C c.3540G>C p.Lys1180Asn Missense 11/27 - 1
13-32912033-C-T c.3541C>T p.Gln1181* Nonsense 11/27 - 1
13-32912036-T-TAA c.3544_3545insAA p.Phe1182* Nonsense 11/27 - 1
13-32912037-TTT-T c.3545_3546del p.Phe1182* Frameshift 11/27 - 13
13-32912039-G-C c.3547G>C p.Glu1183Gln Missense 11/27 - 1
13-32912040-A-G c.3548A>G p.Glu1183Gly Missense 11/27 - 8
13-32912043-G-C c.3551G>C p.Gly1184Ala Missense 11/27 - 2
13-32912050-T-A c.3558T>A p.Val1186Val Synonymous 11/27 - 1
13-32912051-G-T c.3559G>T p.Glu1187* Nonsense 11/27 - 1
13-32912054-A-G c.3562A>G p.Ile1188Val Missense 11/27 - 2
13-32912056-T-G c.3564T>G p.Ile1188Met Missense 11/27 - 1
13-32912060-C-T c.3568C>T p.Arg1190Trp Missense 11/27 - 10
13-32912061-G-A c.3569G>A p.Arg1190Gln Missense 11/27 - 3
13-32912061-G-T c.3569G>T p.Arg1190Leu Missense 11/27 - 1
13-32912062-GG-G c.3570del p.Lys1191Serfs*6 Frameshift 11/27 - 2
13-32912067-T-G c.3575T>G p.Phe1192Cys Missense 11/27 - 5
13-32912073-G-A c.3581G>A p.Gly1194Asp Missense 11/27 - 7
13-32912075-CC-C c.3583del p.Leu1195Cysfs*2 Frameshift 11/27 - 1
13-32912075-C-A c.3583C>A p.Leu1195Met Missense 11/27 - 1
13-32912079-T-A c.3587T>A p.Leu1196* Nonsense 11/27 - 1
13-32912081-A-G c.3589A>G p.Lys1197Glu Missense 11/27 - 1
13-32912088-GACTG-G c.3596_3599del p.Asp1199Valfs*9 Frameshift 11/27 - 2
13-32912090-T-TAAT c.3598_3599insAAT p.Asp1199_Cys1200ins* InFrameInsertion 11/27 - 1
13-32912090-T-TA c.3598_3599insA p.Cys1200* Nonsense 11/27 - 2
13-32912091-TGT-T c.3599_3600del p.Cys1200* Frameshift 11/27 - 15
13-32912092-T-A c.3600T>A p.Cys1200* Nonsense 11/27 - 1
13-32912095-C-CT c.3603_3604insT p.Lys1202* Nonsense 11/27 - 1
13-32912098-AAA-A c.3606_3607del p.Ser1203Cysfs*8 Frameshift 11/27 - 1
13-32912108-G-T c.3616G>T p.Gly1206Cys Missense 11/27 - 1
13-32912109-G-C c.3617G>C p.Gly1206Ala Missense 11/27 - 1
13-32912109-G-A c.3617G>A p.Gly1206Asp Missense 11/27 - 1
13-32912113-T-G c.3621T>G p.Tyr1207* Nonsense 11/27 - 1
13-32912113-T-A c.3621T>A p.Tyr1207* Nonsense 11/27 - 1
13-32912116-A-G c.3624A>G p.Leu1208Leu Synonymous 11/27 - 2
13-32912119-A-AA c.3627dup p.Asp1210Argfs*2 Frameshift 11/27 - 8
13-32912120-AGA-A c.3628_3629del p.Asp1210* Frameshift 11/27 - 1
13-32912131-AAGTGGGGTTTAGGG-A c.3639_3652del p.Val1214Leufs*14 Frameshift 11/27 - 1
13-32912132-G-T c.3640G>T p.Val1214Leu Missense 11/27 - 1
13-32912133-T-TT c.3641dup p.Phe1216Valfs*2 Frameshift 11/27 - 1
13-32912137-GT-TAAAAAG c.3645_3646delinsTAAAAAG p.Phe1216Lysfs*14 Frameshift 11/27 - 2
13-32912143-G-A c.3651G>A p.Arg1217Arg Synonymous 11/27 - 1
13-32912147-T-C c.3655T>C p.Phe1219Leu Missense 11/27 - 1
13-32912149-T-A c.3657T>A p.Phe1219Leu Missense 11/27 - 1
13-32912149-T-G c.3657T>G p.Phe1219Leu Missense 11/27 - 1
13-32912150-T-C c.3658T>C p.Tyr1220His Missense 11/27 - 2
13-32912153-T-C c.3661T>C p.Ser1221Pro Missense 11/27 - 1
13-32912153-T-G c.3661T>G p.Ser1221Ala Missense 11/27 - 1
13-32912154-C-A c.3662C>A p.Ser1221Tyr Missense 11/27 - 1
13-32912167-A-G c.3675A>G p.Thr1225Thr Synonymous 11/27 - 1
13-32912167-A-C c.3675A>C p.Thr1225Thr Synonymous 11/27 - 1
13-32912167-A-T c.3675A>T p.Thr1225Thr Synonymous 11/27 - 1
13-32912172-CTG-C c.3680_3681del p.Leu1227Glnfs*5 Frameshift 11/27 - 8
13-32912174-A-G c.3682A>G p.Asn1228Asp Missense 11/27 - 5
13-32912174-GAATG-G c.3682_3685del p.Asn1228Phefs*10 Frameshift 11/27 - 1
13-32912175-A-G c.3683A>G p.Asn1228Ser Missense 11/27 - 1
13-32912177-TG-T c.3685del p.Val1229Phefs*10 Frameshift 11/27 - 1
13-32912181-C-T c.3689C>T p.Ser1230Phe Missense 11/27 - 1
13-32912181-TC-T c.3689del p.Ser1230Leufs*9 Frameshift 11/27 - 3
13-32912185-T-C c.3693T>C p.Thr1231Thr Synonymous 11/27 - 2
13-32912189-G-A c.3697G>A p.Ala1233Thr Missense 11/27 - 2
13-32912190-C-T c.3698C>T p.Ala1233Val Missense 11/27 - 2
13-32912192-TCTGCA-T c.3700_3704del p.Leu1234Lysfs*7 Frameshift 11/27 - 3
13-32912195-C-T c.3703C>T p.Gln1235* Nonsense 11/27 - 1
13-32912200-A-AA c.3708dup p.Ala1237Serfs*6 Frameshift 11/27 - 1
13-32912208-A-C c.3716A>C p.Lys1239Thr Missense 11/27 - 1
13-32912209-AA-A c.3717del p.Lys1239Asnfs*20 Frameshift 11/27 - 2
13-32912209-A-G c.3717A>G p.Lys1239Lys Synonymous 11/27 - 1
13-32912210-C-T c.3718C>T p.Leu1240Leu Synonymous 11/27 - 1
13-32912212-G-A c.3720G>A p.Leu1240Leu Synonymous 11/27 - 1
13-32912212-TGTTT-T c.3720_3723del p.Phe1241Valfs*17 Frameshift 11/27 - 2
13-32912212-TGT-T c.3720_3721del p.Phe1241* Frameshift 11/27 - 2
13-32912215-T-G c.3723T>G p.Phe1241Leu Missense 11/27 - 3
13-32912214-T-G c.3722T>G p.Phe1241Cys Missense 11/27 - 1
13-32912215-TT-T c.3723del p.Phe1241Leufs*18 Frameshift 11/27 - 3
13-32912217-G-A c.3725G>A p.Ser1242Asn Missense 11/27 - 1
13-32912231-TA-T c.3739del p.Ile1247Leufs*12 Frameshift 11/27 - 1
13-32912236-GTGAG-G c.3744_3747del p.Ser1248Argfs*10 Frameshift 11/27 - 14
13-32912240-G-T c.3748G>T p.Glu1250* Nonsense 11/27 - 5
13-32912241-A-G c.3749A>G p.Glu1250Gly Missense 11/27 - 1
13-32912243-A-AA c.3751dup p.Thr1251Asnfs*14 Frameshift 11/27 - 2
13-32912251-A-AA c.3759dup p.Glu1254Argfs*11 Frameshift 11/27 - 1
13-32912252-AG-A c.3760del p.Glu1254Argfs*5 Frameshift 11/27 - 1
13-32912252-G-T c.3760G>T p.Glu1254* Nonsense 11/27 - 1
13-32912253-A-G c.3761A>G p.Glu1254Gly Missense 11/27 - 1
13-32912262-C-T c.3770C>T p.Pro1257Leu Missense 11/27 - 1
13-32912272-TAT-T c.3780_3781del p.Leu1260Phefs*4 Frameshift 11/27 - 1
13-32912274-C-G c.3782C>G p.Ser1261Cys Missense 11/27 - 2
13-32912277-C-A c.3785C>A p.Ser1262* Nonsense 11/27 - 2
13-32912285-T-A c.3793T>A p.Cys1265Ser Missense 11/27 - 3
13-32912286-G-T c.3794G>T p.Cys1265Phe Missense 11/27 - 1
13-32912299-T-G c.3807T>G p.Val1269Val Synonymous 11/27 - 61
13-32912299-T-C c.3807T>C p.Val1269Val Synonymous 11/27 - 73
13-32912306-AA-A c.3814del p.Met1272Cysfs*4 Frameshift 11/27 - 1
13-32912306-A-G c.3814A>G p.Met1272Val Missense 11/27 - 4
13-32912311-TT-T c.3819del p.Phe1273Leufs*3 Frameshift 11/27 - 1
13-32912313-AAGATA-A c.3821_3825del p.Lys1274Argfs*4 Frameshift 11/27 - 1
13-32912315-A-G c.3823A>G p.Ile1275Val Missense 11/27 - 2
13-32912316-ATAGA-A c.3824_3827del p.Ile1275Lysfs*8 Frameshift 11/27 - 1
13-32912317-A-G c.3825A>G p.Ile1275Met Missense 11/27 - 1
13-32912318-G-T c.3826G>T p.Glu1276* Nonsense 11/27 - 1
13-32912322-A-G c.3830A>G p.Asn1277Ser Missense 11/27 - 1
13-32912326-ATA-A c.3834_3835del p.His1278Glnfs*2 Frameshift 11/27 - 1
13-32912326-T-C c.3834T>C p.His1278His Synonymous 11/27 - 1
13-32912328-AA-A c.3836del p.Asn1279Metfs*5 Frameshift 11/27 - 1
13-32912330-TGATAAAACTGTAAGTGAAAAAAATAAT-T c.3838_3864del p.Asp1280_Asn1288del InFrameDeletion 11/27 - 1
13-32912331-A-T c.3839A>T p.Asp1280Val Missense 11/27 - 5
13-32912337-ACT-A c.3845_3846del p.Thr1282Serfs*3 Frameshift 11/27 - 1
13-32912339-TGT-T c.3847_3848del p.Val1283Lysfs*2 Frameshift 11/27 - 49
13-32912340-T-C c.3848T>C p.Val1283Ala Missense 11/27 - 2
13-32912347-A-G c.3855A>G p.Glu1285Glu Synonymous 11/27 - 1
13-32912350-A-AT c.3858_3859insT p.Asn1287* Nonsense 11/27 - 1
13-32912350-AAAA-A c.3858_3860del p.Lys1286del InFrameDeletion 11/27 - 2
13-32912352-AA-A c.3860del p.Asn1287Ilefs*6 Frameshift 11/27 - 18
13-32912352-A-AA c.3860dup p.Asn1287Lysfs*2 Frameshift 11/27 - 3
13-32912352-AATAA-A c.3860_3863del p.Asn1287Ilefs*5 Frameshift 11/27 - 3
13-32912356-ATAA-A c.3864_3866del p.Asn1288del InFrameDeletion 11/27 - 2
13-32912357-TAAAT-T c.3865_3868del p.Lys1289Alafs*3 Frameshift 11/27 - 4
13-32912359-A-C c.3867A>C p.Lys1289Asn Missense 11/27 - 1
13-32912359-A-T c.3867A>T p.Lys1289Asn Missense 11/27 - 1
13-32912361-G-T c.3869G>T p.Cys1290Phe Missense 11/27 - 2
13-32912361-G-A c.3869G>A p.Cys1290Tyr Missense 11/27 - 12
13-32912363-C-T c.3871C>T p.Gln1291* Nonsense 11/27 - 3
13-32912365-AA-A c.3873del p.Gln1291Hisfs*2 Frameshift 11/27 - 2
13-32912371-TAT-T c.3879_3880del p.Leu1294Thrfs*3 Frameshift 11/27 - 1
13-32912375-C-T c.3883C>T p.Gln1295* Nonsense 11/27 - 4
13-32912378-A-C c.3886A>C p.Asn1296His Missense 11/27 - 1
13-32912387-G-T c.3895G>T p.Glu1299* Nonsense 11/27 - 3
13-32912388-A-T c.3896A>T p.Glu1299Val Missense 11/27 - 2
13-32912389-AAATGA-A c.3897_3901del p.Glu1299Aspfs*7 Frameshift 11/27 - 1
13-32912395-T-C c.3903T>C p.Thr1301Thr Synonymous 11/27 - 1
13-32912396-A-T c.3904A>T p.Thr1302Ser Missense 11/27 - 1
13-32912396-A-G c.3904A>G p.Thr1302Ala Missense 11/27 - 2
13-32912396-A-C c.3904A>C p.Thr1302Pro Missense 11/27 - 1
13-32912396-TACT-T c.3904_3906del p.Thr1302del InFrameDeletion 11/27 - 1
13-32912402-A-G c.3910A>G p.Thr1304Ala Missense 11/27 - 1
13-32912408-TGT-T c.3916_3917del p.Val1306* Frameshift 11/27 - 1
13-32912408-G-A c.3916G>A p.Val1306Ile Missense 11/27 - 6
13-32912411-TG-T c.3919del p.Glu1307Lysfs*28 Frameshift 11/27 - 1
13-32912414-G-T c.3922G>T p.Glu1308* Nonsense 11/27 - 27
13-32912414-G-A c.3922G>A p.Glu1308Lys Missense 11/27 - 4
13-32912419-TT-T c.3927del p.Thr1310Leufs*25 Frameshift 11/27 - 1
13-32912421-C-T c.3929C>T p.Thr1310Ile Missense 11/27 - 1
13-32912431-AC-A c.3939del p.Tyr1313* Frameshift 11/27 - 1
13-32912432-CAA-C c.3940_3941del p.Lys1314Glufs*4 Frameshift 11/27 - 1
13-32912442-CT-TG c.3950_3951delinsTG p.Thr1317Met Missense 11/27 - 1
13-32912449-ATG-A c.3957_3958del p.Asn1319Lysfs*3 Frameshift 11/27 - 1
13-32912454-A-G c.3962A>G p.Asp1321Gly Missense 11/27 - 2
13-32912459-A-T c.3967A>T p.Lys1323* Nonsense 11/27 - 2
13-32912461-AA-A c.3969del p.Lys1323Asnfs*12 Frameshift 11/27 - 1
13-32912464-ATACT-A c.3972_3975del p.Tyr1324* Frameshift 11/27 - 1
13-32912465-TA-T c.3973del p.Thr1325Leufs*10 Frameshift 11/27 - 3
13-32912467-T-TTGCT c.3975_3976insTGCT p.Ala1326Cysfs*5 Frameshift 11/27 - 1
13-32912467-TGCT-TGCTTGCT c.3975_3978dup p.Ala1327Cysfs*4 Frameshift 11/27 - 3
13-32912473-C-CTGCA c.3981_3982insTGCA p.Ser1328Cysfs*3 Frameshift 11/27 - 1
13-32912475-G-C c.3983G>C p.Ser1328Thr Missense 11/27 - 1
13-32912475-G-A c.3983G>A p.Ser1328Asn Missense 11/27 - 1
13-32912477-A-T c.3985A>T p.Arg1329* Nonsense 11/27 - 1
13-32912477-AGA-CAT c.3985_3987delinsCAT p.Arg1329His Missense 11/27 - 1
13-32912491-C-G c.3999C>G p.Asn1333Lys Missense 11/27 - 1
13-32912495-G-T c.4003G>T p.Glu1335* Nonsense 11/27 - 2
13-32912496-A-T c.4004A>T p.Glu1335Val Missense 11/27 - 1
13-32912497-A-AA c.4005dup p.Phe1336Ilefs*2 Frameshift 11/27 - 1
13-32912498-T-TA c.4006_4007insA p.Phe1336Tyrfs*2 Frameshift 11/27 - 2
13-32912498-T-TCATC c.4006_4007insCATC p.Phe1336Serfs*3 Frameshift 11/27 - 1
13-32912504-G-A c.4012G>A p.Gly1338Ser Missense 11/27 - 1
13-32912504-G-T c.4012G>T p.Gly1338Cys Missense 11/27 - 1
13-32912505-GG-G c.4013del p.Gly1338Alafs*36 Frameshift 11/27 - 1
13-32912513-TT-T c.4021del p.Ser1341Glnfs*33 Frameshift 11/27 - 3
13-32912518-T-TT c.4026dup p.Lys1343* Nonsense 11/27 - 1
13-32912522-AAATGA-A c.4030_4034del p.Asn1344Tyrfs*6 Frameshift 11/27 - 2
13-32912526-GA-G c.4034del p.Asp1345Valfs*29 Frameshift 11/27 - 4
13-32912527-T-C c.4035T>C p.Asp1345Asp Synonymous 11/27 - 2
13-32912527-AT-A c.4035del p.Asp1345Glufs*29 Frameshift 11/27 - 1
13-32912529-ACT-A c.4037_4038del p.Thr1346Serfs*5 Frameshift 11/27 - 2
13-32912533-TTT-T c.4041_4042del p.Cys1348Tyrfs*3 Frameshift 11/27 - 2
13-32912538-T-C c.4046T>C p.Ile1349Thr Missense 11/27 - 4
13-32912546-G-A c.4054G>A p.Asp1352Asn Missense 11/27 - 2
13-32912546-G-T c.4054G>T p.Asp1352Tyr Missense 11/27 - 6
13-32912549-G-T c.4057G>T p.Glu1353* Nonsense 11/27 - 1
13-32912552-A-G c.4060A>G p.Thr1354Ala Missense 11/27 - 1
13-32912553-C-T c.4061C>T p.Thr1354Met Missense 11/27 - 17
13-32912560-G-T c.4068G>T p.Leu1356Phe Missense 11/27 - 4
13-32912560-G-A c.4068G>A p.Leu1356Leu Synonymous 11/27 - 14
13-32912570-TG-T c.4078del p.Asp1360Ilefs*14 Frameshift 11/27 - 1
13-32912573-C-T c.4081C>T p.Gln1361* Nonsense 11/27 - 2
13-32912577-CA-C c.4085del p.His1362Profs*12 Frameshift 11/27 - 2
13-32912578-C-G c.4086C>G p.His1362Gln Missense 11/27 - 1
13-32912578-C-T c.4086C>T p.His1362His Synonymous 11/27 - 1
13-32912578-C-A c.4086C>A p.His1362Gln Missense 11/27 - 1
13-32912582-A-C c.4090A>C p.Ile1364Leu Missense 11/27 - 6
13-32912582-A-G c.4090A>G p.Ile1364Val Missense 11/27 - 2
13-32912584-TAT-T c.4092_4093del p.Ile1364Metfs*3 Frameshift 11/27 - 1
13-32912586-G-A c.4094G>A p.Cys1365Tyr Missense 11/27 - 6
13-32912587-T-A c.4095T>A p.Cys1365* Nonsense 11/27 - 1
13-32912598-CT-AA c.4106_4107delinsAA p.Ser1369* Nonsense 11/27 - 2
13-32912601-G-C c.4109G>C p.Gly1370Ala Missense 11/27 - 1
13-32912602-C-T c.4110C>T p.Gly1370Gly Synonymous 11/27 - 1
13-32912603-C-T c.4111C>T p.Gln1371* Nonsense 11/27 - 4
13-32912610-T-C c.4118T>C p.Met1373Thr Missense 11/27 - 1
13-32912610-T-G c.4118T>G p.Met1373Arg Missense 11/27 - 1
13-32912613-AA-A c.4121del p.Lys1374Argfs*14 Frameshift 11/27 - 2
13-32912615-G-T c.4123G>T p.Glu1375* Nonsense 11/27 - 1
13-32912618-G-T c.4126G>T p.Gly1376* Nonsense 11/27 - 2
13-32912619-G-C c.4127G>C p.Gly1376Ala Missense 11/27 - 1
13-32912621-A-G c.4129A>G p.Asn1377Asp Missense 11/27 - 1
13-32912623-C-CTGAGGA c.4131_4132insTGAGGA p.Asn1377_Thr1378ins* Nonsense 11/27 - 6
13-32912624-CAC-C c.4132_4133del p.Thr1378Serfs*3 Frameshift 11/27 - 1
13-32912625-ACTCA-A c.4133_4136del p.Thr1378Argfs*9 Frameshift 11/27 - 2
13-32912628-A-G c.4136A>G p.Gln1379Arg Missense 11/27 - 1
13-32912636-G-A c.4144G>A p.Glu1382Lys Missense 11/27 - 1
13-32912638-AAGA-A c.4146_4148del p.Glu1382del InFrameDeletion 11/27 - 4
13-32912640-GAT-G c.4148_4149del p.Asp1383Valfs*19 Frameshift 11/27 - 1
13-32912643-TT-T c.4151del p.Leu1384Cysfs*4 Frameshift 11/27 - 3
13-32912646-C-T c.4154C>T p.Ser1385Leu Missense 11/27 - 1
13-32912655-C-A c.4163C>A p.Thr1388Asn Missense 11/27 - 2
13-32912657-T-G c.4165T>G p.Phe1389Val Missense 11/27 - 1
13-32912661-TT-T c.4169del p.Leu1390Trpfs*20 Frameshift 11/27 - 1
13-32912663-GG-G c.4171del p.Glu1391Lysfs*19 Frameshift 11/27 - 1
13-32912663-G-T c.4171G>T p.Glu1391* Nonsense 11/27 - 1
13-32912664-A-G c.4172A>G p.Glu1391Gly Missense 11/27 - 2
13-32912670-C-T c.4178C>T p.Ala1393Val Missense 11/27 - 1
13-32912670-C-G c.4178C>G p.Ala1393Gly Missense 11/27 - 1
13-32912671-G-A c.4179G>A p.Ala1393Ala Synonymous 11/27 - 1
13-32912675-G-T c.4183G>T p.Ala1395Ser Missense 11/27 - 1
13-32912679-A-G c.4187A>G p.Gln1396Arg Missense 11/27 - 10
13-32912687-T-C c.4195T>C p.Cys1399Arg Missense 11/27 - 1
13-32912688-G-T c.4196G>T p.Cys1399Phe Missense 11/27 - 1
13-32912699-A-AA c.4207dup p.Thr1403Asnfs*4 Frameshift 11/27 - 1
13-32912699-A-G c.4207A>G p.Thr1403Ala Missense 11/27 - 1
13-32912700-C-T c.4208C>T p.Thr1403Ile Missense 11/27 - 1
13-32912703-TC-T c.4211del p.Ser1404* Frameshift 11/27 - 1
13-32912703-C-G c.4211C>G p.Ser1404* Nonsense 11/27 - 2
13-32912707-T-TT c.4215dup p.Lys1406* Nonsense 11/27 - 1
13-32912710-A-AT c.4218_4219insT p.Glu1407* Nonsense 11/27 - 1
13-32912710-AAGAA-A c.4218_4221del p.Lys1406Asnfs*3 Frameshift 11/27 - 2
13-32912714-C-T c.4222C>T p.Gln1408* Nonsense 11/27 - 7
13-32912715-CA-C c.4223del p.Gln1408Argfs*2 Frameshift 11/27 - 1
13-32912716-G-A c.4224G>A p.Gln1408Gln Synonymous 11/27 - 1
13-32912720-A-AA c.4228dup p.Thr1410Asnfs*4 Frameshift 11/27 - 1
13-32912723-G-A c.4231G>A p.Ala1411Thr Missense 11/27 - 1
13-32912732-AA-A c.4240del p.Thr1414Argfs*5 Frameshift 11/27 - 2
13-32912733-C-T c.4241C>T p.Thr1414Met Missense 11/27 - 9
13-32912735-GG-G c.4243del p.Glu1415Serfs*4 Frameshift 11/27 - 1
13-32912735-G-T c.4243G>T p.Glu1415* Nonsense 11/27 - 2
13-32912737-G-A c.4245G>A p.Glu1415Glu Synonymous 11/27 - 1
13-32912739-A-G c.4247A>G p.Gln1416Arg Missense 11/27 - 1
13-32912744-A-G c.4252A>G p.Ile1418Val Missense 11/27 - 1
13-32912745-T-C c.4253T>C p.Ile1418Thr Missense 11/27 - 1
13-32912750-AG-A c.4258del p.Asp1420Ilefs*28 Frameshift 11/27 - 6
13-32912750-G-A c.4258G>A p.Asp1420Asn Missense 11/27 - 1
13-32912750-G-T c.4258G>T p.Asp1420Tyr Missense 11/27 - 50
13-32912763-C-G c.4271C>G p.Ser1424Cys Missense 11/27 - 2
13-32912768-A-AA c.4276dup p.Thr1426Asnfs*12 Frameshift 11/27 - 1
13-32912776-T-TT c.4284dup p.Gln1429Serfs*9 Frameshift 11/27 - 17
13-32912777-C-CG c.4285_4286insG p.Gln1429Argfs*9 Frameshift 11/27 - 2
13-32912777-C-CT c.4285_4286insT p.Gln1429Leufs*9 Frameshift 11/27 - 2
13-32912777-C-T c.4285C>T p.Gln1429* Nonsense 11/27 - 1
13-32912780-A-G c.4288A>G p.Thr1430Ala Missense 11/27 - 4
13-32912783-G-A c.4291G>A p.Ala1431Thr Missense 11/27 - 1
13-32912785-A-G c.4293A>G p.Ala1431Ala Synonymous 11/27 - 1
13-32912789-G-A c.4297G>A p.Gly1433Arg Missense 11/27 - 2
13-32912793-A-T c.4301A>T p.Lys1434Ile Missense 11/27 - 6
13-32912799-T-C c.4307T>C p.Ile1436Thr Missense 11/27 - 1
13-32912800-T-C c.4308T>C p.Ile1436Ile Synonymous 11/27 - 7
13-32912802-G-A c.4310G>A p.Ser1437Asn Missense 11/27 - 1
13-32912806-C-T c.4314C>T p.Val1438Val Synonymous 11/27 - 3
13-32912806-TC-T c.4314del p.Ala1439Profs*9 Frameshift 11/27 - 2
13-32912807-G-A c.4315G>A p.Ala1439Thr Missense 11/27 - 2
13-32912808-C-A c.4316C>A p.Ala1439Asp Missense 11/27 - 2
13-32912812-A-G c.4320A>G p.Lys1440Lys Synonymous 11/27 - 2
13-32912812-A-C c.4320A>C p.Lys1440Asn Missense 11/27 - 3
13-32912813-G-T c.4321G>T p.Glu1441* Nonsense 11/27 - 1
13-32912816-T-C c.4324T>C p.Ser1442Pro Missense 11/27 - 1
13-32912817-C-A c.4325C>A p.Ser1442* Nonsense 11/27 - 1
13-32912826-A-C c.4334A>C p.Lys1445Thr Missense 11/27 - 1
13-32912831-GT-TA c.4339_4340delinsTA p.Val1447* Nonsense 11/27 - 1
13-32912831-TG-T c.4339del p.Val1447* Frameshift 11/27 - 1
13-32912839-C-G c.4347C>G p.Phe1449Leu Missense 11/27 - 2
13-32912842-T-TT c.4350dup p.Asp1451* Nonsense 11/27 - 1
13-32912843-TG-T c.4351del p.Asp1451Ilefs*12 Frameshift 11/27 - 1
13-32912846-CA-GG c.4354_4355delinsGG p.Gln1452Gly Missense 11/27 - 1
13-32912849-A-AT c.4357_4358insT p.Lys1453Ilefs*7 Frameshift 11/27 - 1
13-32912851-A-G c.4359A>G p.Lys1453Lys Synonymous 11/27 - 1
13-32912855-G-T c.4363G>T p.Glu1455* Nonsense 11/27 - 1
13-32912863-G-T c.4371G>T p.Leu1457Phe Missense 11/27 - 1
13-32912863-G-C c.4371G>C p.Leu1457Phe Missense 11/27 - 1
13-32912864-C-T c.4372C>T p.His1458Tyr Missense 11/27 - 3
13-32912865-A-G c.4373A>G p.His1458Arg Missense 11/27 - 1
13-32912867-A-T c.4375A>T p.Asn1459Tyr Missense 11/27 - 1
13-32912868-A-G c.4376A>G p.Asn1459Ser Missense 11/27 - 5
13-32912870-T-TAA c.4378_4379insAA p.Phe1460* Nonsense 11/27 - 1
13-32912870-CTTTTC-C c.4378_4382del p.Phe1460Leufs*4 Frameshift 11/27 - 1
13-32912871-T-C c.4379T>C p.Phe1460Ser Missense 11/27 - 1
13-32912872-TTT-T c.4380_4381del p.Ser1461Leufs*4 Frameshift 11/27 - 2
13-32912890-TA-T c.4398del p.Leu1466Phefs*5 Frameshift 11/27 - 1
13-32912890-TACATT-T c.4398_4402del p.Leu1466Phefs*2 Frameshift 11/27 - 3
13-32912897-TGACAT-T c.4405_4409del p.Asp1469Lysfs*11 Frameshift 11/27 - 1
13-32912901-ATAAGA-A c.4409_4413del p.Ile1470Lysfs*10 Frameshift 11/27 - 1
13-32912906-A-C c.4414A>C p.Lys1472Gln Missense 11/27 - 1
13-32912907-AAGAA-A c.4415_4418del p.Lys1472Thrfs*6 Frameshift 11/27 - 4
13-32912908-AGA-A c.4416_4417del p.Asn1473Glnfs*8 Frameshift 11/27 - 1
13-32912911-AC-A c.4419del p.Asn1473Lysfs*6 Frameshift 11/27 - 1
13-32912913-A-G c.4421A>G p.Lys1474Arg Missense 11/27 - 1
13-32912919-A-G c.4427A>G p.Asp1476Gly Missense 11/27 - 4
13-32912921-CA-C c.4429del p.Ile1477Phefs*2 Frameshift 11/27 - 1
13-32912928-G-C c.4436G>C p.Ser1479Thr Missense 11/27 - 3
13-32912932-T-G c.4440T>G p.Tyr1480* Nonsense 11/27 - 3
13-32912937-A-G c.4445A>G p.Glu1482Gly Missense 11/27 - 1
13-32912941-CA-C c.4449del p.Asp1484Thrfs*2 Frameshift 11/27 - 6
13-32912944-C-T c.4452C>T p.Asp1484Asp Synonymous 11/27 - 1
13-32912948-AGTTA-A c.4456_4459del p.Val1486Asnfs*5 Frameshift 11/27 - 2
13-32912949-T-TA c.4457_4458insA p.Lys1487* Nonsense 11/27 - 1
13-32912951-A-AC c.4459_4460insC p.Lys1487Thrfs*27 Frameshift 11/27 - 1
13-32912952-AAA-A c.4460_4461del p.Lys1487Thrfs*26 Frameshift 11/27 - 1
13-32912956-C-A c.4464C>A p.His1488Gln Missense 11/27 - 1
13-32912956-C-G c.4464C>G p.His1488Gln Missense 11/27 - 1
13-32912959-A-T c.4467A>T p.Lys1489Asn Missense 11/27 - 1
13-32912959-A-C c.4467A>C p.Lys1489Asn Missense 11/27 - 1
13-32912963-ACTGA-A c.4471_4474del p.Leu1491Lysfs*12 Frameshift 11/27 - 4
13-32912969-G-T c.4477G>T p.Glu1493* Nonsense 11/27 - 2
13-32912969-G-C c.4477G>C p.Glu1493Gln Missense 11/27 - 1
13-32912969-AGAA-A c.4477_4479del p.Glu1493del InFrameDeletion 11/27 - 1
13-32912970-GAAAG-G c.4478_4481del p.Glu1493Valfs*10 Frameshift 11/27 - 10
13-32912971-A-AT c.4479_4480insT p.Ser1494* Nonsense 11/27 - 1
13-32912972-AA-A c.4480del p.Ser1494Valfs*10 Frameshift 11/27 - 2
13-32912972-A-C c.4480A>C p.Ser1494Arg Missense 11/27 - 1
13-32912974-T-A c.4482T>A p.Ser1494Arg Missense 11/27 - 1
13-32912974-T-G c.4482T>G p.Ser1494Arg Missense 11/27 - 1
13-32912975-TGT-T c.4483_4484del p.Val1495Profs*18 Frameshift 11/27 - 1
13-32912979-CC-C c.4487del p.Pro1496Glnfs*8 Frameshift 11/27 - 2
13-32912996-C-G c.4504C>G p.Gln1502Glu Missense 11/27 - 1
13-32912996-C-A c.4504C>A p.Gln1502Lys Missense 11/27 - 1
13-32912999-C-T c.4507C>T p.Leu1503Leu Synonymous 11/27 - 1
13-32913004-G-GT c.4512_4513insT p.Thr1505Tyrfs*9 Frameshift 11/27 - 2
13-32913005-A-G c.4513A>G p.Thr1505Ala Missense 11/27 - 1
13-32913017-C-T c.4525C>T p.Gln1509* Nonsense 11/27 - 2
13-32913023-G-A c.4531G>A p.Glu1511Lys Missense 11/27 - 3
13-32913025-AA-A c.4533del p.Glu1511Aspfs*32 Frameshift 11/27 - 2
13-32913026-CGT-TGG c.4534_4536delinsTGG p.Arg1512Trp Missense 11/27 - 1
13-32913026-C-T c.4534C>T p.Arg1512Cys Missense 11/27 - 5
13-32913026-C-A c.4534C>A p.Arg1512Ser Missense 11/27 - 2
13-32913027-G-C c.4535G>C p.Arg1512Pro Missense 11/27 - 2
13-32913027-G-A c.4535G>A p.Arg1512His Missense 11/27 - 2
13-32913027-CG-C c.4535del p.Arg1512Leufs*31 Frameshift 11/27 - 1
13-32913031-T-A c.4539T>A p.Asp1513Glu Missense 11/27 - 1
13-32913031-T-G c.4539T>G p.Asp1513Glu Missense 11/27 - 1
13-32913032-G-GC c.4540_4541insC p.Glu1514Alafs*15 Frameshift 11/27 - 1
13-32913032-G-A c.4540G>A p.Glu1514Lys Missense 11/27 - 1
13-32913036-A-AA c.4544dup p.Ile1516Aspfs*13 Frameshift 11/27 - 1
13-32913040-C-G c.4548C>G p.Ile1516Met Missense 11/27 - 1
13-32913044-AG-A c.4552del p.Glu1518Asnfs*25 Frameshift 11/27 - 3
13-32913053-C-T c.4561C>T p.Leu1521Leu Synonymous 11/27 - 15
13-32913055-A-T c.4563A>T p.Leu1521Leu Synonymous 11/27 - 31
13-32913055-A-G c.4563A>G p.Leu1521Leu Synonymous 11/27 - 37
13-32913055-A-C c.4563A>C p.Leu1521Leu Synonymous 11/27 - 31
13-32913056-TT-GG c.4564_4565delinsGG p.Leu1522Gly Missense 11/27 - 1
13-32913056-ATT-A c.4564_4565del p.Leu1522Glyfs*6 Frameshift 11/27 - 1
13-32913060-GT-AG c.4568_4569delinsAG p.Gly1523Glu Missense 11/27 - 1
13-32913062-TTTTC-T c.4570_4573del p.Phe1524Ilefs*18 Frameshift 11/27 - 1
13-32913062-TTT-GAG c.4570_4572delinsGAG p.Phe1524Glu Missense 11/27 - 2
13-32913062-T-G c.4570T>G p.Phe1524Val Missense 11/27 - 10
13-32913063-TT-GG c.4571_4572delinsGG p.Phe1524Trp Missense 11/27 - 2
13-32913065-C-T c.4573C>T p.His1525Tyr Missense 11/27 - 1
13-32913066-A-G c.4574A>G p.His1525Arg Missense 11/27 - 1
13-32913066-A-T c.4574A>T p.His1525Leu Missense 11/27 - 1
13-32913067-T-G c.4575T>G p.His1525Gln Missense 11/27 - 1
13-32913067-T-A c.4575T>A p.His1525Gln Missense 11/27 - 1
13-32913068-A-G c.4576A>G p.Thr1526Ala Missense 11/27 - 5
13-32913070-A-G c.4578A>G p.Thr1526Thr Synonymous 11/27 - 4
13-32913070-A-C c.4578A>C p.Thr1526Thr Synonymous 11/27 - 4
13-32913071-G-T c.4579G>T p.Ala1527Ser Missense 11/27 - 2
13-32913076-C-T c.4584C>T p.Ser1528Ser Synonymous 11/27 - 4
13-32913076-C-G c.4584C>G p.Ser1528Arg Missense 11/27 - 3
13-32913077-G-A c.4585G>A p.Gly1529Arg Missense 11/27 - 32
13-32913079-G-T c.4587G>T p.Gly1529Gly Synonymous 11/27 - 1
13-32913080-A-T c.4588A>T p.Lys1530* Nonsense 11/27 - 1
13-32913080-A-G c.4588A>G p.Lys1530Glu Missense 11/27 - 1
13-32913081-A-G c.4589A>G p.Lys1530Arg Missense 11/27 - 1
13-32913082-A-C c.4590A>C p.Lys1530Asn Missense 11/27 - 1
13-32913082-A-T c.4590A>T p.Lys1530Asn Missense 11/27 - 1
13-32913085-AA-A c.4593del p.Val1532Leufs*11 Frameshift 11/27 - 1
13-32913085-A-T c.4593A>T p.Lys1531Asn Missense 11/27 - 1
13-32913091-A-C c.4599A>C p.Lys1533Asn Missense 11/27 - 6
13-32913095-G-T c.4603G>T p.Ala1535Ser Missense 11/27 - 4
13-32913101-G-A c.4609G>A p.Glu1537Lys Missense 11/27 - 2
13-32913103-A-AG c.4611_4612insG p.Ser1538Valfs*10 Frameshift 11/27 - 2
13-32913106-T-C c.4614T>C p.Ser1538Ser Synonymous 11/27 - 2
13-32913108-TT-T c.4616del p.Leu1539Trpfs*4 Frameshift 11/27 - 1
13-32913112-C-T c.4620C>T p.Asp1540Asp Synonymous 11/27 - 1
13-32913116-G-T c.4624G>T p.Val1542Leu Missense 11/27 - 1
13-32913116-G-A c.4624G>A p.Val1542Met Missense 11/27 - 1
13-32913117-T-A c.4625T>A p.Val1542Glu Missense 11/27 - 1
13-32913119-A-G c.4627A>G p.Lys1543Glu Missense 11/27 - 1
13-32913123-A-AA c.4631dup p.Asn1544Lysfs*4 Frameshift 11/27 - 3
13-32913123-AA-A c.4631del p.Asn1544Thrfs*24 Frameshift 11/27 - 7
13-32913123-A-AG c.4631_4632insG p.Asn1544Lysfs*4 Frameshift 11/27 - 1
13-32913124-ACCTT-A c.4632_4635del p.Phe1546Metfs*21 Frameshift 11/27 - 1
13-32913125-CTT-GAG c.4633_4635delinsGAG p.Leu1545Glu Missense 11/27 - 1
13-32913125-CTT-TGG c.4633_4635delinsTGG p.Leu1545Trp Missense 11/27 - 1
13-32913125-C-T c.4633C>T p.Leu1545Phe Missense 11/27 - 2
13-32913126-T-C c.4634T>C p.Leu1545Pro Missense 11/27 - 1
13-32913128-TTT-GAG c.4636_4638delinsGAG p.Phe1546Glu Missense 11/27 - 1
13-32913130-T-A c.4638T>A p.Phe1546Leu Missense 11/27 - 1
13-32913130-T-G c.4638T>G p.Phe1546Leu Missense 11/27 - 1
13-32913128-T-C c.4636T>C p.Phe1546Leu Missense 11/27 - 1
13-32913129-TT-AA c.4637_4638inv p.Phe1546* Nonsense 11/27 - 1
13-32913129-TT-GG c.4637_4638delinsGG p.Phe1546Trp Missense 11/27 - 1
13-32913130-T-TT c.4638dup p.Asp1547* Nonsense 11/27 - 2
13-32913130-TT-T c.4638del p.Phe1546Leufs*22 Frameshift 11/27 - 4
13-32913134-G-A c.4642G>A p.Glu1548Lys Missense 11/27 - 1
13-32913135-A-C c.4643A>C p.Glu1548Ala Missense 11/27 - 1
13-32913140-G-T c.4648G>T p.Glu1550* Nonsense 11/27 - 3
13-32913141-A-G c.4649A>G p.Glu1550Gly Missense 11/27 - 1
13-32913147-GT-AG c.4655_4656delinsAG p.Gly1552Glu Missense 11/27 - 1
13-32913148-T-C c.4656T>C p.Gly1552Gly Synonymous 11/27 - 2
13-32913169-TT-T c.4677del p.Phe1559Leufs*9 Frameshift 11/27 - 2
13-32913173-C-A c.4681C>A p.His1561Asn Missense 11/27 - 12
13-32913178-A-G c.4686A>G p.Gln1562Gln Synonymous 11/27 - 4
13-32913180-G-A c.4688G>A p.Trp1563* Nonsense 11/27 - 1
13-32913181-G-A c.4689G>A p.Trp1563* Nonsense 11/27 - 1
13-32913183-C-CC c.4691dup p.Thr1566Aspfs*9 Frameshift 11/27 - 2
13-32913187-G-C c.4695G>C p.Lys1565Asn Missense 11/27 - 2
13-32913187-G-T c.4695G>T p.Lys1565Asn Missense 11/27 - 2
13-32913188-A-G c.4696A>G p.Thr1566Ala Missense 11/27 - 2
13-32913190-C-T c.4698C>T p.Thr1566Thr Synonymous 11/27 - 2
13-32913195-AA-A c.4703del p.Lys1568Serfs*11 Frameshift 11/27 - 1
13-32913202-GA-G c.4710del p.Glu1571Argfs*8 Frameshift 11/27 - 2
13-32913204-GAG-G c.4712_4713del p.Glu1571Glyfs*3 Frameshift 11/27 - 1
13-32913206-G-A c.4714G>A p.Ala1572Thr Missense 11/27 - 1
13-32913206-G-C c.4714G>C p.Ala1572Pro Missense 11/27 - 1
13-32913207-C-G c.4715C>G p.Ala1572Gly Missense 11/27 - 1
13-32913207-C-T c.4715C>T p.Ala1572Val Missense 11/27 - 2
13-32913208-CT-AAAGACC c.4716_4717delinsAAAGACC p.Cys1573Lysfs*8 Frameshift 11/27 - 1
13-32913208-CT-AAAGA c.4716_4717delinsAAAGA p.Cys1573delinsLysSer MultiAAMissense 11/27 - 1
13-32913210-G-A c.4718G>A p.Cys1573Tyr Missense 11/27 - 1
13-32913210-G-T c.4718G>T p.Cys1573Phe Missense 11/27 - 1
13-32913214-A-AA c.4722dup p.Asp1575Argfs*3 Frameshift 11/27 - 1
13-32913217-C-T c.4725C>T p.Asp1575Asp Synonymous 11/27 - 1
13-32913220-T-TT c.4728dup p.Glu1577* Nonsense 11/27 - 1
13-32913223-AA-A c.4731del p.Glu1577Aspfs*2 Frameshift 11/27 - 2
13-32913223-A-AA c.4731dup p.Leu1578Ilefs*4 Frameshift 11/27 - 1
13-32913232-T-TTG c.4740_4741insTG p.Glu1581Trpfs*37 Frameshift 11/27 - 2
13-32913233-G-C c.4741G>C p.Glu1581Gln Missense 11/27 - 2
13-32913233-G-A c.4741G>A p.Glu1581Lys Missense 11/27 - 1
13-32913234-A-ATG c.4742_4743insTG p.Glu1581Aspfs*37 Frameshift 11/27 - 2
13-32913240-T-C c.4748T>C p.Ile1583Thr Missense 11/27 - 1
13-32913242-G-A c.4750G>A p.Glu1584Lys Missense 11/27 - 1
13-32913249-C-T c.4757C>T p.Thr1586Ile Missense 11/27 - 1
13-32913251-G-A c.4759G>A p.Ala1587Thr Missense 11/27 - 1
13-32913259-A-G c.4767A>G p.Pro1589Pro Synonymous 11/27 - 1
13-32913261-A-G c.4769A>G p.Lys1590Arg Missense 11/27 - 1
13-32913263-TG-AC c.4771_4772delinsAC p.Cys1591Thr Missense 11/27 - 2
13-32913269-G-A c.4777G>A p.Glu1593Lys Missense 11/27 - 1
13-32913269-G-T c.4777G>T p.Glu1593* Nonsense 11/27 - 3
13-32913270-A-G c.4778A>G p.Glu1593Gly Missense 11/27 - 1
13-32913271-A-C c.4779A>C p.Glu1593Asp Missense 11/27 - 9
13-32913273-AT-A c.4781del p.Met1594Serfs*23 Frameshift 11/27 - 1
13-32913274-G-T c.4782G>T p.Met1594Ile Missense 11/27 - 1
13-32913277-G-A c.4785G>A p.Gln1595Gln Synonymous 11/27 - 1
13-32913282-C-A c.4790C>A p.Ser1597Tyr Missense 11/27 - 2
13-32913285-CTC-C c.4793_4794del p.Leu1598Glnfs*2 Frameshift 11/27 - 2
13-32913286-C-T c.4794C>T p.Leu1598Leu Synonymous 11/27 - 1
13-32913286-TCAAT-T c.4794_4797del p.Asn1599Metfs*17 Frameshift 11/27 - 2
13-32913290-TAAT-T c.4798_4800del p.Asn1600del InFrameDeletion 11/27 - 3
13-32913295-T-TT c.4803dup p.Lys1602* Nonsense 11/27 - 1
13-32913300-AA-A c.4808del p.Asn1603Thrfs*14 Frameshift 11/27 - 2
13-32913300-A-AA c.4808dup p.Asn1603Lysfs*6 Frameshift 11/27 - 1
13-32913302-C-T c.4810C>T p.Leu1604Phe Missense 11/27 - 2
13-32913305-G-A c.4813G>A p.Val1605Ile Missense 11/27 - 2
13-32913306-T-C c.4814T>C p.Val1605Ala Missense 11/27 - 2
13-32913313-TTGA-T c.4821_4823del p.Ile1607_Glu1608delinsMet MultiAAMissense 11/27 - 1
13-32913320-G-A c.4828G>A p.Val1610Met Missense 11/27 - 4
13-32913321-GTG-G c.4829_4830del p.Val1610Glyfs*4 Frameshift 11/27 - 7
13-32913322-G-A c.4830G>A p.Val1610Val Synonymous 11/27 - 1
13-32913336-T-G c.4844T>G p.Leu1615Arg Missense 11/27 - 1
13-32913337-TCT-T c.4845_4846del p.Leu1616Lysfs*2 Frameshift 11/27 - 1
13-32913341-AGT-TGA c.4849_4851delinsTGA p.Ser1617* Nonsense 11/27 - 1
13-32913342-G-A c.4850G>A p.Ser1617Asn Missense 11/27 - 1
13-32913346-T-A c.4854T>A p.Asp1618Glu Missense 11/27 - 5
13-32913357-G-C c.4865G>C p.Arg1622Thr Missense 11/27 - 2
13-32913358-GA-G c.4866del p.Arg1622Serfs*14 Frameshift 11/27 - 1
13-32913364-CTG-C c.4872_4873del p.Glu1625Lysfs*13 Frameshift 11/27 - 1
13-32913367-A-AT c.4875_4876insT p.Asn1626* Nonsense 11/27 - 1
13-32913368-AAA-A c.4876_4877del p.Asn1626Serfs*12 Frameshift 11/27 - 8
13-32913374-A-G c.4882A>G p.Lys1628Glu Missense 11/27 - 1
13-32913376-AAA-A c.4884_4885del p.Lys1628Asnfs*10 Frameshift 11/27 - 1
13-32913377-A-G c.4885A>G p.Thr1629Ala Missense 11/27 - 1
13-32913381-C-G c.4889C>G p.Ser1630* Nonsense 11/27 - 15
13-32913381-C-A c.4889C>A p.Ser1630* Nonsense 11/27 - 3
13-32913381-C-T c.4889C>T p.Ser1630Leu Missense 11/27 - 1
13-32913386-A-G c.4894A>G p.Ser1632Gly Missense 11/27 - 1
13-32913386-AAG-A c.4894_4895del p.Ser1632Tyrfs*6 Frameshift 11/27 - 1
13-32913389-TATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAAACAGCAAAAAGTCCTGC-T c.4898_4956del p.Ile1633Asnfs*13 InFrameDeletion 11/27 - 2
13-32913391-TCTTT-T c.4899_4902del p.Phe1634* Frameshift 11/27 - 2
13-32913392-T-C c.4900T>C p.Phe1634Leu Missense 11/27 - 1
13-32913393-T-C c.4901T>C p.Phe1634Ser Missense 11/27 - 1
13-32913398-A-G c.4906A>G p.Lys1636Glu Missense 11/27 - 1
13-32913400-AA-A c.4908del p.Val1637Leufs*7 Frameshift 11/27 - 1
13-32913401-G-C c.4909G>C p.Val1637Leu Missense 11/27 - 1
13-32913404-A-G c.4912A>G p.Lys1638Glu Missense 11/27 - 1
13-32913405-A-G c.4913A>G p.Lys1638Arg Missense 11/27 - 1
13-32913406-A-T c.4914A>T p.Lys1638Asn Missense 11/27 - 1
13-32913406-A-AA c.4914dup p.Val1639Serfs*3 Frameshift 11/27 - 1
13-32913407-G-C c.4915G>C p.Val1639Leu Missense 11/27 - 2
13-32913407-G-A c.4915G>A p.Val1639Ile Missense 11/27 - 5
13-32913419-G-A c.4927G>A p.Val1643Ile Missense 11/27 - 2
13-32913420-T-C c.4928T>C p.Val1643Ala Missense 11/27 - 5
13-32913422-G-A c.4930G>A p.Glu1644Lys Missense 11/27 - 1
13-32913422-G-C c.4930G>C p.Glu1644Gln Missense 11/27 - 1
13-32913425-AAAA-A c.4933_4935del p.Lys1645del InFrameDeletion 11/27 - 1
13-32913427-AA-A c.4935del p.Glu1646Lysfs*24 Frameshift 11/27 - 3
13-32913427-A-AT c.4935_4936insT p.Glu1646* Nonsense 11/27 - 1
13-32913428-AGAAA-A c.4936_4939del p.Glu1646Glnfs*23 Frameshift 11/27 - 21
13-32913428-G-C c.4936G>C p.Glu1646Gln Missense 11/27 - 1
13-32913432-ACA-A c.4940_4941del p.Thr1647Serfs*18 Frameshift 11/27 - 1
13-32913435-GC-G c.4943del p.Ala1648Glufs*22 Frameshift 11/27 - 2
13-32913439-AAA-A c.4947_4948del p.Pro1651Cysfs*14 Frameshift 11/27 - 2
13-32913448-A-G c.4956A>G p.Ala1652Ala Synonymous 11/27 - 4
13-32913454-T-A c.4962T>A p.Cys1654* Nonsense 11/27 - 2
13-32913455-TA-AC c.4963_4964delinsAC p.Tyr1655Thr Missense 11/27 - 1
13-32913455-TA-CT c.4963_4964delinsCT p.Tyr1655Leu Missense 11/27 - 2
13-32913455-TT-T c.4963del p.Tyr1655Thrfs*15 Frameshift 11/27 - 4
13-32913456-TACACAAATCAGTCCCCTTA-T c.4964_4982del p.Tyr1655Phefs*9 Frameshift 11/27 - 1
13-32913456-A-AA c.4964dup p.Tyr1655* Nonsense 11/27 - 5
13-32913457-AC-A c.4965del p.Tyr1655* Frameshift 11/27 - 4
13-32913457-C-G c.4965C>G p.Tyr1655* Nonsense 11/27 - 26
13-32913457-C-A c.4965C>A p.Tyr1655* Nonsense 11/27 - 18
13-32913457-C-T c.4965C>T p.Tyr1655Tyr Synonymous 11/27 - 6
13-32913460-A-AGT c.4968_4969insGT p.Asn1657Valfs*14 Frameshift 11/27 - 2
13-32913462-A-G c.4970A>G p.Asn1657Ser Missense 11/27 - 5
13-32913463-T-TGT c.4971_4972insGT p.Gln1658Valfs*13 Frameshift 11/27 - 1
13-32913464-C-T c.4972C>T p.Gln1658* Nonsense 11/27 - 1
13-32913471-CCT-C c.4979_4980del p.Pro1660Leufs*5 Frameshift 11/27 - 1
13-32913473-TT-T c.4981del p.Tyr1661Ilefs*9 Frameshift 11/27 - 2
13-32913475-T-G c.4983T>G p.Tyr1661* Nonsense 11/27 - 1
13-32913486-A-G c.4994A>G p.Glu1665Gly Missense 11/27 - 1
13-32913489-AA-A c.4997del p.Asn1666Ilefs*4 Frameshift 11/27 - 1
13-32913491-T-TT c.4999dup p.Ser1667Phefs*10 Frameshift 11/27 - 1
13-32913498-T-A c.5006T>A p.Leu1669* Nonsense 11/27 - 1
13-32913498-T-G c.5006T>G p.Leu1669* Nonsense 11/27 - 1
13-32913506-T-C c.5014T>C p.Tyr1672His Missense 11/27 - 1
13-32913506-T-TT c.5014dup p.Tyr1672Leufs*5 Frameshift 11/27 - 1
13-32913512-A-G c.5020A>G p.Ser1674Gly Missense 11/27 - 5
13-32913521-AG-CA c.5029_5030delinsCA p.Arg1677Gln Missense 11/27 - 1
13-32913522-AGAAA-A c.5030_5033del p.Arg1677Lysfs*4 Frameshift 11/27 - 4
13-32913525-A-G c.5033A>G p.Lys1678Arg Missense 11/27 - 1
13-32913525-A-C c.5033A>C p.Lys1678Thr Missense 11/27 - 1
13-32913528-CT-TG c.5036_5037delinsTG p.Thr1679Met Missense 11/27 - 1
13-32913534-GTG-G c.5042_5043del p.Val1681Glufs*7 Frameshift 11/27 - 12
13-32913535-TG-T c.5043del p.Ser1682Valfs*24 Frameshift 11/27 - 1
13-32913536-A-G c.5044A>G p.Ser1682Gly Missense 11/27 - 1
13-32913539-C-T c.5047C>T p.Gln1683* Nonsense 11/27 - 1
13-32913540-A-AA c.5048dup p.Thr1684Aspfs*5 Frameshift 11/27 - 1
13-32913540-A-T c.5048A>T p.Gln1683Leu Missense 11/27 - 1
13-32913543-C-G c.5051C>G p.Thr1684Ser Missense 11/27 - 2
13-32913546-C-T c.5054C>T p.Ser1685Leu Missense 11/27 - 1
13-32913552-T-C c.5060T>C p.Leu1687Pro Missense 11/27 - 1
13-32913553-T-TT c.5061dup p.Glu1688* Nonsense 11/27 - 1
13-32913555-GAAG-G c.5063_5065del p.Glu1688del InFrameDeletion 11/27 - 1
13-32913556-A-AA c.5064dup p.Ala1689Serfs*6 Frameshift 11/27 - 5
13-32913557-GC-AAA c.5065_5066delinsAAA p.Ala1689Lysfs*6 Frameshift 11/27 - 1
13-32913560-A-C c.5068A>C p.Lys1690Gln Missense 11/27 - 1
13-32913562-A-C c.5070A>C p.Lys1690Asn Missense 11/27 - 14
13-32913562-AAAAA-A c.5070_5073del p.Lys1690Asnfs*15 Frameshift 11/27 - 1
13-32913565-AA-A c.5073del p.Lys1691Asnfs*15 Frameshift 11/27 - 4
13-32913565-A-AA c.5073dup p.Trp1692Metfs*3 Frameshift 11/27 - 31
13-32913565-A-T c.5073A>T p.Lys1691Asn Missense 11/27 - 2
13-32913566-T-TA c.5074_5075insA p.Trp1692* Nonsense 11/27 - 1
13-32913566-TG-AT c.5074_5075delinsAT p.Trp1692Met Missense 11/27 - 1
13-32913567-G-A c.5075G>A p.Trp1692* Nonsense 11/27 - 4
13-32913571-TT-T c.5079del p.Arg1694Glufs*12 Frameshift 11/27 - 1
13-32913572-A-T c.5080A>T p.Arg1694* Nonsense 11/27 - 1
13-32913573-G-T c.5081G>T p.Arg1694Ile Missense 11/27 - 1
13-32913573-AGAGA-A c.5081_5084del p.Arg1694Lysfs*11 Frameshift 11/27 - 1
13-32913574-A-G c.5082A>G p.Arg1694Arg Synonymous 11/27 - 1
13-32913579-G-T c.5087G>T p.Gly1696Val Missense 11/27 - 1
13-32913583-TAT-T c.5091_5092del p.Phe1698* Frameshift 11/27 - 1
13-32913584-T-C c.5092T>C p.Phe1698Leu Missense 11/27 - 1
13-32913587-G-A c.5095G>A p.Asp1699Asn Missense 11/27 - 2
13-32913588-A-G c.5096A>G p.Asp1699Gly Missense 11/27 - 4
13-32913593-C-T c.5101C>T p.Gln1701* Nonsense 11/27 - 7
13-32913595-A-AA c.5103dup p.Pro1702Thrfs*16 Frameshift 11/27 - 1
13-32913598-CA-C c.5106del p.Glu1703Lysfs*3 Frameshift 11/27 - 1
13-32913602-A-T c.5110A>T p.Arg1704* Nonsense 11/27 - 2
13-32913602-AAGAA-A c.5110_5113del p.Arg1704* Frameshift 11/27 - 3
13-32913603-G-C c.5111G>C p.Arg1704Thr Missense 11/27 - 1
13-32913605-A-G c.5113A>G p.Ile1705Val Missense 11/27 - 1
13-32913607-A-AT c.5115_5116insT p.Asn1706* Nonsense 11/27 - 1
13-32913608-AAATA-A c.5116_5119del p.Asn1706Leufs*5 Frameshift 11/27 - 11
13-32913609-A-C c.5117A>C p.Asn1706Thr Missense 11/27 - 1
13-32913609-A-G c.5117A>G p.Asn1706Ser Missense 11/27 - 1
13-32913615-C-A c.5123C>A p.Ala1708Glu Missense 11/27 - 14
13-32913615-C-G c.5123C>G p.Ala1708Gly Missense 11/27 - 1
13-32913618-A-C c.5126A>C p.Asp1709Ala Missense 11/27 - 1
13-32913619-T-G c.5127T>G p.Asp1709Glu Missense 11/27 - 1
13-32913619-T-A c.5127T>A p.Asp1709Glu Missense 11/27 - 1
13-32913620-T-G c.5128T>G p.Tyr1710Asp Missense 11/27 - 1
13-32913622-ATGTA-A c.5130_5133del p.Tyr1710* Frameshift 11/27 - 8
13-32913622-T-A c.5130T>A p.Tyr1710* Nonsense 11/27 - 2
13-32913622-T-G c.5130T>G p.Tyr1710* Nonsense 11/27 - 2
13-32913626-G-T c.5134G>T p.Gly1712* Nonsense 11/27 - 1
13-32913627-G-C c.5135G>C p.Gly1712Ala Missense 11/27 - 1
13-32913633-TATTT-T c.5141_5144del p.Tyr1714Cysfs*10 Frameshift 11/27 - 4
13-32913638-GTATG-G c.5146_5149del p.Tyr1716Lysfs*8 Frameshift 11/27 - 9
13-32913640-T-G c.5148T>G p.Tyr1716* Nonsense 11/27 - 1
13-32913641-G-T c.5149G>T p.Glu1717* Nonsense 11/27 - 1
13-32913649-ATTCAA-A c.5157_5161del p.Asn1719Lysfs*6 Frameshift 11/27 - 1
13-32913650-T-TA c.5158_5159insA p.Ser1720Tyrfs*7 Frameshift 11/27 - 2
13-32913650-T-TT c.5158dup p.Ser1720Phefs*7 Frameshift 11/27 - 1
13-32913651-C-A c.5159C>A p.Ser1720* Nonsense 11/27 - 1
13-32913655-C-CT c.5163_5164insT p.Ser1722* Nonsense 11/27 - 3
13-32913656-CAG-C c.5164_5165del p.Ser1722Tyrfs*4 Frameshift 11/27 - 17
13-32913656-CA-C c.5164del p.Ser1722Valfs*3 Frameshift 11/27 - 5
13-32913656-AG-TA c.5164_5165delinsTA p.Ser1722Tyr Missense 11/27 - 1
13-32913659-A-C c.5167A>C p.Thr1723Pro Missense 11/27 - 3
13-32913662-A-G c.5170A>G p.Ile1724Val Missense 11/27 - 1
13-32913663-AT-A c.5171del p.Ile1724Lysfs*17 Frameshift 11/27 - 2
13-32913665-G-GA c.5173_5174insA p.Ala1725Aspfs*2 Frameshift 11/27 - 1
13-32913666-C-G c.5174C>G p.Ala1725Gly Missense 11/27 - 1
13-32913672-A-T c.5180A>T p.Asn1727Ile Missense 11/27 - 1
13-32913674-G-A c.5182G>A p.Asp1728Asn Missense 11/27 - 1
13-32913680-A-T c.5188A>T p.Asn1730Tyr Missense 11/27 - 1
13-32913681-A-AA c.5189dup p.Asn1730Lysfs*13 Frameshift 11/27 - 1
13-32913682-T-A c.5190T>A p.Asn1730Lys Missense 11/27 - 2
13-32913683-C-A c.5191C>A p.His1731Asn Missense 11/27 - 2
13-32913683-C-T c.5191C>T p.His1731Tyr Missense 11/27 - 4
13-32913689-CTC-C c.5197_5198del p.Ser1733Argfs*9 Frameshift 11/27 - 1
13-32913690-C-T c.5198C>T p.Ser1733Phe Missense 11/27 - 12
13-32913691-C-T c.5199C>T p.Ser1733Ser Synonymous 11/27 - 18
13-32913692-G-C c.5200G>C p.Glu1734Gln Missense 11/27 - 1
13-32913692-G-A c.5200G>A p.Glu1734Lys Missense 11/27 - 2
13-32913692-G-T c.5200G>T p.Glu1734* Nonsense 11/27 - 2
13-32913694-A-C c.5202A>C p.Glu1734Asp Missense 11/27 - 1
13-32913697-AACAA-A c.5205_5208del p.Gln1736Ilefs*4 Frameshift 11/27 - 1
13-32913698-C-T c.5206C>T p.Gln1736* Nonsense 11/27 - 1
13-32913700-A-AT c.5208_5209insT p.Asp1737* Nonsense 11/27 - 1
13-32913705-ACTTA-A c.5213_5216del p.Thr1738Ilefs*2 Frameshift 11/27 - 17
13-32913708-A-AA c.5216dup p.Tyr1739* Nonsense 11/27 - 2
13-32913708-A-T c.5216A>T p.Tyr1739Phe Missense 11/27 - 1
13-32913708-A-AAAA c.5216_5217insAAA p.Tyr1739delins* Nonsense 11/27 - 1
13-32913709-ATTTAAGT-A c.5217_5223del p.Tyr1739* Frameshift 11/27 - 7
13-32913709-ATTTAAGTA-A c.5217_5224del p.Tyr1739* Frameshift 11/27 - 1
13-32913709-T-TA c.5217_5218insA p.Leu1740Ilefs*3 Frameshift 11/27 - 1
13-32913709-T-A c.5217T>A p.Tyr1739* Nonsense 11/27 - 1
13-32913709-ATTTA-A c.5217_5220del p.Tyr1739* Frameshift 11/27 - 2
13-32913709-ATTTAA-A c.5217_5221del p.Tyr1739* Frameshift 11/27 - 1
13-32913710-TTTAAGTAACAGTAGCAT-T c.5218_5234del p.Leu1740Valfs*2 Frameshift 11/27 - 1
13-32913710-TTTAAGT-T c.5218_5223del p.Leu1740_Ser1741del InFrameDeletion 11/27 - 2
13-32913710-TTTAAGTA-T c.5218_5224del p.Leu1740Thrfs*35 Frameshift 11/27 - 1
13-32913711-TT-T c.5219del p.Leu1740* Frameshift 11/27 - 2
13-32913711-T-G c.5219T>G p.Leu1740* Nonsense 11/27 - 3
13-32913711-T-TTA c.5219_5220insTA p.Leu1740Phefs*38 Frameshift 11/27 - 1
13-32913711-T-TT c.5219dup p.Leu1740Phefs*3 Frameshift 11/27 - 1
13-32913712-A-AT c.5220_5221insT p.Ser1741* Nonsense 11/27 - 1
13-32913714-AGTAA-A c.5222_5225del p.Ser1741Thrfs*35 Frameshift 11/27 - 3
13-32913714-AGTA-A c.5222_5224del p.Ser1741del InFrameDeletion 11/27 - 1
13-32913717-A-G c.5225A>G p.Asn1742Ser Missense 11/27 - 1
13-32913717-AACAGTA-A c.5225_5230del p.Asn1742_Ser1743del InFrameDeletion 11/27 - 1
13-32913721-GTAG-G c.5229_5231del p.Ser1744del InFrameDeletion 11/27 - 1
13-32913722-TA-T c.5230del p.Ser1744Alafs*33 Frameshift 11/27 - 1
13-32913723-G-T c.5231G>T p.Ser1744Ile Missense 11/27 - 5
13-32913725-CA-C c.5233del p.Met1745Cysfs*32 Frameshift 11/27 - 1
13-32913727-G-GGC c.5235_5236insGC p.Ser1746Alafs*32 Frameshift 11/27 - 1
13-32913730-T-TT c.5238dup p.Asn1747* Nonsense 11/27 - 11
13-32913730-CT-C c.5238del p.Asn1747Thrfs*30 Frameshift 11/27 - 3
13-32913731-A-AT c.5239_5240insT p.Asn1747Ilefs*8 Frameshift 11/27 - 13
13-32913733-C-CTA c.5241_5242insTA p.Ser1748* Nonsense 11/27 - 1
13-32913736-GC-G c.5244del p.Tyr1749Ilefs*28 Frameshift 11/27 - 1
13-32913744-A-G c.5252A>G p.Tyr1751Cys Missense 11/27 - 1
13-32913745-C-A c.5253C>A p.Tyr1751* Nonsense 11/27 - 2
13-32913746-C-G c.5254C>G p.His1752Asp Missense 11/27 - 1
13-32913752-G-T c.5260G>T p.Asp1754Tyr Missense 11/27 - 1
13-32913752-G-A c.5260G>A p.Asp1754Asn Missense 11/27 - 1
13-32913753-A-G c.5261A>G p.Asp1754Gly Missense 11/27 - 1
13-32913755-G-T c.5263G>T p.Glu1755* Nonsense 11/27 - 1
13-32913755-G-GC c.5263_5264insC p.Glu1755Alafs*4 Frameshift 11/27 - 6
13-32913758-G-GG c.5266dup p.Val1756Glyfs*3 Frameshift 11/27 - 1
13-32913758-G-GC c.5266_5267insC p.Val1756Alafs*3 Frameshift 11/27 - 1
13-32913759-T-A c.5267T>A p.Val1756Glu Missense 11/27 - 1
13-32913762-A-G c.5270A>G p.Tyr1757Cys Missense 11/27 - 1
13-32913764-A-G c.5272A>G p.Asn1758Asp Missense 11/27 - 1
13-32913764-TAAT-T c.5272_5274del p.Asn1758del InFrameDeletion 11/27 - 1
13-32913770-T-A c.5278T>A p.Ser1760Thr Missense 11/27 - 1
13-32913770-T-G c.5278T>G p.Ser1760Ala Missense 11/27 - 6
13-32913771-C-A c.5279C>A p.Ser1760* Nonsense 11/27 - 1
13-32913771-C-G c.5279C>G p.Ser1760* Nonsense 11/27 - 3
13-32913773-G-T c.5281G>T p.Gly1761* Nonsense 11/27 - 1
13-32913778-T-A c.5286T>A p.Tyr1762* Nonsense 11/27 - 4
13-32913779-C-CAG c.5287_5288insAG p.Leu1763Glnfs*15 Frameshift 11/27 - 1
13-32913782-CTC-C c.5290_5291del p.Ser1764Lysfs*3 Frameshift 11/27 - 2
13-32913783-C-G c.5291C>G p.Ser1764* Nonsense 11/27 - 4
13-32913787-A-T c.5295A>T p.Lys1765Asn Missense 11/27 - 1
13-32913787-A-C c.5295A>C p.Lys1765Asn Missense 11/27 - 1
13-32913791-TAAACTTGAT-T c.5299_5307del p.Lys1767_Asp1769del InFrameDeletion 11/27 - 1
13-32913793-A-AA c.5301dup p.Leu1768Thrfs*2 Frameshift 11/27 - 1
13-32913794-ACTTGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTT-A c.5302_5360del p.Leu1768Phefs*19 SpliceDonorDeletion 11/27 - 1
13-32913795-CTT-C c.5303_5304del p.Leu1768Argfs*5 Frameshift 11/27 - 5
13-32913797-TGATTCTGGTATTGAGCCAGTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTC-T c.5305_5363del p.Asp1769Glnfs*18 SpliceDonorDeletion 11/27 - 1
13-32913797-G-C c.5305G>C p.Asp1769His Missense 11/27 - 1
13-32913803-TGGTATTGAGCCAGTATTGAAGAA-T c.5311_5333del p.Gly1771Cysfs*2 Frameshift 11/27 - 1
13-32913804-G-A c.5312G>A p.Gly1771Asp Missense 11/27 - 18
13-32913804-G-T c.5312G>T p.Gly1771Val Missense 11/27 - 4
13-32913811-G-A c.5319G>A p.Glu1773Glu Synonymous 11/27 - 1
13-32913811-G-C c.5319G>C p.Glu1773Asp Missense 11/27 - 1
13-32913813-C-T c.5321C>T p.Pro1774Leu Missense 11/27 - 1
13-32913816-GTATTGAAGAATGTTGAAGATCAAAAAAACACTAGTTTTTCCAAAGTAATATCCAATGTA-G c.5324_5382del p.Val1775Glufs*12 Frameshift 11/27 - 1
13-32913816-T-G c.5324T>G p.Val1775Gly Missense 11/27 - 3
13-32913819-TTG-T c.5327_5328del p.Leu1776* Frameshift 11/27 - 1
13-32913820-G-GG c.5328dup p.Lys1777Glufs*4 Frameshift 11/27 - 1
13-32913823-AGAA-A c.5331_5333del p.Lys1777del InFrameDeletion 11/27 - 1
13-32913825-A-G c.5333A>G p.Asn1778Ser Missense 11/27 - 1
13-32913832-A-AT c.5340_5341insT p.Asp1781* Nonsense 11/27 - 1
13-32913833-G-A c.5341G>A p.Asp1781Asn Missense 11/27 - 2
13-32913834-A-G c.5342A>G p.Asp1781Gly Missense 11/27 - 1
13-32913836-C-T c.5344C>T p.Gln1782* Nonsense 11/27 - 1
13-32913836-C-A c.5344C>A p.Gln1782Lys Missense 11/27 - 1
13-32913837-A-G c.5345A>G p.Gln1782Arg Missense 11/27 - 1
13-32913837-A-C c.5345A>C p.Gln1782Pro Missense 11/27 - 1
13-32913841-A-AT c.5349_5350insT p.Asn1784* Nonsense 11/27 - 1
13-32913842-AAA-A c.5350_5351del p.Asn1784Hisfs*2 Frameshift 11/27 - 9
13-32913843-A-AA c.5351dup p.Asn1784Lysfs*3 Frameshift 11/27 - 28
13-32913843-AA-A c.5351del p.Asn1784Thrfs*7 Frameshift 11/27 - 10
13-32913844-C-G c.5352C>G p.Asn1784Lys Missense 11/27 - 1
13-32913844-C-A c.5352C>A p.Asn1784Lys Missense 11/27 - 1
13-32913844-C-CTA c.5352_5353insTA p.Thr1785* Nonsense 11/27 - 1
13-32913845-CAC-C c.5353_5354del p.Thr1785* Frameshift 11/27 - 2
13-32913856-C-CC c.5364dup p.Lys1789Glnfs*18 Frameshift 11/27 - 1
13-32913866-AT-A c.5374del p.Ser1792Profs*3 Frameshift 11/27 - 1
13-32913867-C-T c.5375C>T p.Ser1792Phe Missense 11/27 - 1
13-32913869-A-T c.5377A>T p.Asn1793Tyr Missense 11/27 - 1
13-32913870-A-G c.5378A>G p.Asn1793Ser Missense 11/27 - 3
13-32913870-A-T c.5378A>T p.Asn1793Ile Missense 11/27 - 1
13-32913872-TG-T c.5380del p.Val1794* Frameshift 11/27 - 1
13-32913872-GT-TA c.5380_5381delinsTA p.Val1794* Nonsense 11/27 - 1
13-32913874-A-AC c.5382_5383insC p.Lys1795Glnfs*12 Frameshift 11/27 - 1
13-32913877-A-AA c.5385dup p.Asp1796Argfs*11 Frameshift 11/27 - 2
13-32913878-G-T c.5386G>T p.Asp1796Tyr Missense 11/27 - 1
13-32913882-C-G c.5390C>G p.Ala1797Gly Missense 11/27 - 2
13-32913889-A-G c.5397A>G p.Ala1799Ala Synonymous 11/27 - 1
13-32913898-A-T c.5406A>T p.Gln1802His Missense 11/27 - 1
13-32913898-A-C c.5406A>C p.Gln1802His Missense 11/27 - 1
13-32913900-C-T c.5408C>T p.Thr1803Ile Missense 11/27 - 1
13-32913902-TGT-T c.5410_5411del p.Val1804Lysfs*2 Frameshift 11/27 - 7
13-32913903-T-A c.5411T>A p.Val1804Glu Missense 11/27 - 1
13-32913903-T-C c.5411T>C p.Val1804Ala Missense 11/27 - 1
13-32913906-A-G c.5414A>G p.Asn1805Ser Missense 11/27 - 2
13-32913910-A-G c.5418A>G p.Glu1806Glu Synonymous 11/27 - 5
13-32913910-A-C c.5418A>C p.Glu1806Asp Missense 11/27 - 2
13-32913915-T-C c.5423T>C p.Ile1808Thr Missense 11/27 - 1
13-32913919-C-T c.5427C>T p.Cys1809Cys Synonymous 11/27 - 1
13-32913920-G-A c.5428G>A p.Val1810Ile Missense 11/27 - 2
13-32913920-CG-C c.5428del p.Val1810Leufs*5 Frameshift 11/27 - 1
13-32913925-AGGAA-A c.5433_5436del p.Glu1811Aspfs*3 Frameshift 11/27 - 2
13-32913926-G-T c.5434G>T p.Glu1812* Nonsense 11/27 - 2
13-32913928-A-C c.5436A>C p.Glu1812Asp Missense 11/27 - 1
13-32913934-TGACT-T c.5442_5445del p.Thr1815Alafs*24 Frameshift 11/27 - 1
13-32913936-C-T c.5444C>T p.Thr1815Ile Missense 11/27 - 1
13-32913938-A-AA c.5446dup p.Ser1816Lysfs*8 Frameshift 11/27 - 1
13-32913938-AG-CT c.5446_5447inv p.Ser1816Leu Missense 11/27 - 1
13-32913945-C-G c.5453C>G p.Ser1818* Nonsense 11/27 - 1
13-32913947-C-A c.5455C>A p.Pro1819Thr Missense 11/27 - 2
13-32913947-C-T c.5455C>T p.Pro1819Ser Missense 11/27 - 10
13-32913951-G-GA c.5459_5460insA p.Cys1820* Nonsense 11/27 - 1
13-32913957-AA-A c.5465del p.Asn1822Ilefs*18 Frameshift 11/27 - 3
13-32913958-T-A c.5466T>A p.Asn1822Lys Missense 11/27 - 1
13-32913958-T-TT c.5466dup p.Lys1823* Nonsense 11/27 - 1
13-32913958-T-C c.5466T>C p.Asn1822Asn Synonymous 11/27 - 1
13-32913959-A-AT c.5467_5468insT p.Lys1823Ilefs*6 Frameshift 11/27 - 1
13-32913960-A-AT c.5468_5469insT p.Lys1823Asnfs*6 Frameshift 11/27 - 1
13-32913962-AAATGCAGC-A c.5470_5477del p.Asn1824Hisfs*2 Frameshift 11/27 - 3
13-32913963-A-AA c.5471dup p.Asn1824Lysfs*5 Frameshift 11/27 - 2
13-32913963-AA-A c.5471del p.Asn1824Metfs*16 Frameshift 11/27 - 1
13-32913966-C-T c.5474C>T p.Ala1825Val Missense 11/27 - 1
13-32913971-A-G c.5479A>G p.Ile1827Val Missense 11/27 - 1
13-32913972-T-G c.5480T>G p.Ile1827Ser Missense 11/27 - 1
13-32913974-TAAATT-T c.5482_5486del p.Lys1828Valfs*4 Frameshift 11/27 - 2
13-32913979-G-T c.5487G>T p.Leu1829Phe Missense 11/27 - 2
13-32913982-C-G c.5490C>G p.Ser1830Ser Synonymous 11/27 - 1
13-32913982-C-T c.5490C>T p.Ser1830Ser Synonymous 11/27 - 1
13-32913982-C-A c.5490C>A p.Ser1830Ser Synonymous 11/27 - 1
13-32913984-T-C c.5492T>C p.Ile1831Thr Missense 11/27 - 1
13-32913986-T-C c.5494T>C p.Ser1832Pro Missense 11/27 - 2
13-32913987-TC-T c.5495del p.Ser1832Leufs*8 Frameshift 11/27 - 5
13-32913987-C-A c.5495C>A p.Ser1832Tyr Missense 11/27 - 5
13-32913987-C-G c.5495C>G p.Ser1832Cys Missense 11/27 - 1
13-32913988-CT-C c.5496del p.Asn1833Ilefs*7 Frameshift 11/27 - 1
13-32913988-CTAATAGTAAT-C c.5496_5505del p.Asn1833Ilefs*4 Frameshift 11/27 - 3
13-32913990-A-G c.5498A>G p.Asn1833Ser Missense 11/27 - 1
13-32913995-A-G c.5503A>G p.Asn1835Asp Missense 11/27 - 1
13-32914001-T-C c.5509T>C p.Phe1837Leu Missense 11/27 - 1
13-32914007-G-A c.5515G>A p.Val1839Ile Missense 11/27 - 1
13-32914010-G-C c.5518G>C p.Gly1840Arg Missense 11/27 - 1
13-32914011-G-T c.5519G>T p.Gly1840Val Missense 11/27 - 1
13-32914019-G-T c.5527G>T p.Ala1843Ser Missense 11/27 - 1
13-32914021-A-T c.5529A>T p.Ala1843Ala Synonymous 11/27 - 1
13-32914021-A-C c.5529A>C p.Ala1843Ala Synonymous 11/27 - 2
13-32914034-CA-C c.5542del p.Ser1848Valfs*15 Frameshift 11/27 - 3
13-32914037-GG-AC c.5545_5546delinsAC p.Gly1849Thr Missense 11/27 - 1
13-32914044-T-G c.5552T>G p.Ile1851Ser Missense 11/27 - 1
13-32914046-G-T c.5554G>T p.Val1852Phe Missense 11/27 - 4
13-32914046-G-C c.5554G>C p.Val1852Leu Missense 11/27 - 3
13-32914046-G-A c.5554G>A p.Val1852Ile Missense 11/27 - 3
13-32914049-TT-T c.5557del p.Cys1853Valfs*10 Frameshift 11/27 - 1
13-32914052-TGT-T c.5560_5561del p.Val1854Phefs*3 Frameshift 11/27 - 2
13-32914061-TGAAAC-T c.5569_5573del p.Glu1857Asnfs*2 Frameshift 11/27 - 3
13-32914061-G-T c.5569G>T p.Glu1857* Nonsense 11/27 - 5
13-32914061-TG-T c.5569del p.Glu1857Lysfs*6 Frameshift 11/27 - 3
13-32914064-A-G c.5572A>G p.Thr1858Ala Missense 11/27 - 1
13-32914065-ACAA-A c.5573_5575del p.Thr1858del InFrameDeletion 11/27 - 1
13-32914068-ATTAA-A c.5576_5579del p.Ile1859Lysfs*3 Frameshift 11/27 - 52
13-32914068-TT-AG c.5576_5577delinsAG p.Ile1859Lys Missense 11/27 - 1
13-32914068-ATTAAA-A c.5576_5580del p.Ile1859Lysfs*12 Frameshift 11/27 - 4
13-32914069-TT-T c.5577del p.Val1862* Frameshift 11/27 - 1
13-32914070-A-T c.5578A>T p.Lys1860* Nonsense 11/27 - 1
13-32914070-A-G c.5578A>G p.Lys1860Glu Missense 11/27 - 2
13-32914075-AA-A c.5583del p.Val1862* Frameshift 11/27 - 1
13-32914077-T-G c.5585T>G p.Val1862Gly Missense 11/27 - 1
13-32914082-G-A c.5590G>A p.Asp1864Asn Missense 11/27 - 4
13-32914087-TAT-T c.5595_5596del p.Phe1866Tyrfs*6 Frameshift 11/27 - 1
13-32914095-GACAG-G c.5603_5606del p.Asp1868Valfs*5 Frameshift 11/27 - 2
13-32914100-T-C c.5608T>C p.Phe1870Leu Missense 11/27 - 1
13-32914102-C-A c.5610C>A p.Phe1870Leu Missense 11/27 - 1
13-32914102-C-G c.5610C>G p.Phe1870Leu Missense 11/27 - 1
13-32914101-TC-AG c.5609_5610delinsAG p.Phe1870* Missense 11/27 - 10
13-32914101-T-A c.5609T>A p.Phe1870Tyr Missense 11/27 - 1
13-32914102-C-CT c.5610_5611insT p.Ser1871* Nonsense 11/27 - 1
13-32914104-G-A c.5612G>A p.Ser1871Asn Missense 11/27 - 2
13-32914106-A-T c.5614A>T p.Lys1872* Nonsense 11/27 - 3
13-32914108-AAGTAA-A c.5616_5620del p.Lys1872Asnfs*2 Frameshift 11/27 - 11
13-32914113-ATTAA-A c.5621_5624del p.Ile1874Argfs*34 Frameshift 11/27 - 6
13-32914114-TTAAGGAA-T c.5622_5628del p.Lys1875Thrfs*32 Frameshift 11/27 - 1
13-32914116-A-C c.5624A>C p.Lys1875Thr Missense 11/27 - 1
13-32914117-G-C c.5625G>C p.Lys1875Asn Missense 11/27 - 1
13-32914117-G-T c.5625G>T p.Lys1875Asn Missense 11/27 - 1
13-32914118-G-A c.5626G>A p.Glu1876Lys Missense 11/27 - 1
13-32914123-AC-A c.5631del p.Asn1877Lysfs*32 Frameshift 11/27 - 2
13-32914125-A-AA c.5633dup p.Asn1878Lysfs*4 Frameshift 11/27 - 1
13-32914126-C-A c.5634C>A p.Asn1878Lys Missense 11/27 - 4
13-32914126-C-G c.5634C>G p.Asn1878Lys Missense 11/27 - 7
13-32914127-G-T c.5635G>T p.Glu1879* Nonsense 11/27 - 3
13-32914127-G-A c.5635G>A p.Glu1879Lys Missense 11/27 - 9
13-32914129-G-T c.5637G>T p.Glu1879Asp Missense 11/27 - 1
13-32914130-A-T c.5638A>T p.Asn1880Tyr Missense 11/27 - 1
13-32914132-T-G c.5640T>G p.Asn1880Lys Missense 11/27 - 13
13-32914133-TAAAT-T c.5641_5644del p.Lys1881Glnfs*27 Frameshift 11/27 - 4
13-32914136-ATCAA-A c.5644_5647del p.Ser1882Lysfs*26 Frameshift 11/27 - 2
13-32914137-C-G c.5645C>G p.Ser1882* Nonsense 11/27 - 26
13-32914137-C-A c.5645C>A p.Ser1882* Nonsense 11/27 - 58
13-32914142-AATTTGCCAAA-A c.5650_5659del p.Ile1884Argfs*22 Frameshift 11/27 - 1
13-32914147-C-T c.5655C>T p.Cys1885Cys Synonymous 11/27 - 1
13-32914147-C-A c.5655C>A p.Cys1885* Nonsense 11/27 - 1
13-32914148-C-T c.5656C>T p.Gln1886* Nonsense 11/27 - 3
13-32914151-A-G c.5659A>G p.Thr1887Ala Missense 11/27 - 2
13-32914152-C-G c.5660C>G p.Thr1887Arg Missense 11/27 - 1
13-32914152-C-T c.5660C>T p.Thr1887Met Missense 11/27 - 1
13-32914159-TT-T c.5667del p.Met1890Trpfs*19 Frameshift 11/27 - 1
13-32914160-A-G c.5668A>G p.Met1890Val Missense 11/27 - 2
13-32914161-ATGGCA-A c.5669_5673del p.Met1890Argfs*8 Frameshift 11/27 - 2
13-32914161-ATGGCAGGTTGTTA-A c.5669_5681del p.Met1890Thrfs*15 Frameshift 11/27 - 1
13-32914163-G-A c.5671G>A p.Ala1891Thr Missense 11/27 - 1
13-32914167-GG-G c.5675del p.Gly1892Valfs*17 Frameshift 11/27 - 1
13-32914173-A-AA c.5681dup p.Tyr1894* Nonsense 11/27 - 10
13-32914174-C-CA c.5682_5683insA p.Glu1895Argfs*5 Frameshift 11/27 - 3
13-32914174-C-A c.5682C>A p.Tyr1894* Nonsense 11/27 - 24
13-32914174-AC-A c.5682del p.Tyr1894* Frameshift 11/27 - 1
13-32914174-C-G c.5682C>G p.Tyr1894* Nonsense 11/27 - 48
13-32914174-C-T c.5682C>T p.Tyr1894Tyr Synonymous 11/27 - 3
13-32914175-G-C c.5683G>C p.Glu1895Gln Missense 11/27 - 3
13-32914175-G-A c.5683G>A p.Glu1895Lys Missense 11/27 - 6
13-32914178-GGCA-G c.5686_5688del p.Ala1896del InFrameDeletion 11/27 - 2
13-32914182-T-A c.5690T>A p.Leu1897* Nonsense 11/27 - 1
13-32914184-GA-TG c.5692_5693delinsTG p.Asp1898Cys Missense 11/27 - 1
13-32914191-TCA-T c.5699_5700del p.Ser1900* Frameshift 11/27 - 1
13-32914191-C-G c.5699C>G p.Ser1900* Nonsense 11/27 - 3
13-32914192-A-AT c.5700_5701insT p.Glu1901* Nonsense 11/27 - 1
13-32914193-G-A c.5701G>A p.Glu1901Lys Missense 11/27 - 1
13-32914194-A-T c.5702A>T p.Glu1901Val Missense 11/27 - 1
13-32914195-G-GT c.5703_5704insT p.Asp1902* Nonsense 11/27 - 1
13-32914196-GAT-AAG c.5704_5706delinsAAG p.Asp1902Lys Missense 11/27 - 1
13-32914196-G-A c.5704G>A p.Asp1902Asn Missense 11/27 - 9
13-32914196-G-T c.5704G>T p.Asp1902Tyr Missense 11/27 - 3
13-32914197-A-C c.5705A>C p.Asp1902Ala Missense 11/27 - 1
13-32914199-A-AA c.5707dup p.Ile1903Asnfs*4 Frameshift 11/27 - 1
13-32914200-T-C c.5708T>C p.Ile1903Thr Missense 11/27 - 2
13-32914202-C-G c.5710C>G p.Leu1904Val Missense 11/27 - 9
13-32914205-C-T c.5713C>T p.His1905Tyr Missense 11/27 - 1
13-32914206-A-T c.5714A>T p.His1905Leu Missense 11/27 - 2
13-32914206-A-G c.5714A>G p.His1905Arg Missense 11/27 - 3
13-32914207-T-TT c.5715dup p.Asn1906* Nonsense 11/27 - 3
13-32914212-TCTCT-T c.5720_5723del p.Ser1907* Frameshift 11/27 - 4
13-32914214-TCT-T c.5722_5723del p.Leu1908Argfs*2 Frameshift 11/27 - 48
13-32914214-C-G c.5722C>G p.Leu1908Val Missense 11/27 - 2
13-32914215-T-G c.5723T>G p.Leu1908Arg Missense 11/27 - 2
13-32914215-T-C c.5723T>C p.Leu1908Pro Missense 11/27 - 1
13-32914219-T-TG c.5727_5728insG p.Asn1910Glufs*2 Frameshift 11/27 - 3
13-32914220-TAAT-T c.5728_5730del p.Asn1910del InFrameDeletion 11/27 - 1
13-32914221-A-T c.5729A>T p.Asn1910Ile Missense 11/27 - 2
13-32914223-G-A c.5731G>A p.Asp1911Asn Missense 11/27 - 1
13-32914224-A-T c.5732A>T p.Asp1911Val Missense 11/27 - 1
13-32914225-ATGA-A c.5733_5735del p.Asp1911del InFrameDeletion 11/27 - 3
13-32914226-G-T c.5734G>T p.Glu1912* Nonsense 11/27 - 2
13-32914228-AA-A c.5736del p.Glu1912Aspfs*51 Frameshift 11/27 - 1
13-32914229-T-G c.5737T>G p.Cys1913Gly Missense 11/27 - 3
13-32914229-T-C c.5737T>C p.Cys1913Arg Missense 11/27 - 3
13-32914233-G-A c.5741G>A p.Ser1914Asn Missense 11/27 - 1
13-32914233-G-C c.5741G>C p.Ser1914Thr Missense 11/27 - 1
13-32914233-G-T c.5741G>T p.Ser1914Ile Missense 11/27 - 1
13-32914236-C-T c.5744C>T p.Thr1915Met Missense 11/27 - 65
13-32914236-CG-TC c.5744_5745delinsTC p.Thr1915Ile Missense 11/27 - 1
13-32914241-TTCACAT-T c.5749_5754del p.Ser1917_His1918del InFrameDeletion 11/27 - 1
13-32914241-TTCA-T c.5749_5751del p.Ser1917del InFrameDeletion 11/27 - 2
13-32914243-CACATAAGGTTTTTGCTGACATTCAGAGTGAAGAAATTTTACAACATAACCAAAATATGT-C c.5751_5809del p.His1918Trpfs*7 Frameshift 11/27 - 2
13-32914244-C-T c.5752C>T p.His1918Tyr Missense 11/27 - 6
13-32914244-ACAT-A c.5752_5754del p.His1918del InFrameDeletion 11/27 - 1
13-32914245-CA-C c.5753del p.His1918Leufs*45 Frameshift 11/27 - 4
13-32914245-A-G c.5753A>G p.His1918Arg Missense 11/27 - 2
13-32914246-T-TT c.5754dup p.Lys1919* Nonsense 11/27 - 1
13-32914246-ATA-A c.5754_5755del p.His1918Glnfs*5 Frameshift 11/27 - 2
13-32914249-G-A c.5757G>A p.Lys1919Lys Synonymous 11/27 - 1
13-32914255-T-TT c.5763dup p.Ala1922Cysfs*2 Frameshift 11/27 - 3
13-32914256-G-C c.5764G>C p.Ala1922Pro Missense 11/27 - 1
13-32914257-C-A c.5765C>A p.Ala1922Asp Missense 11/27 - 1
13-32914259-G-C c.5767G>C p.Asp1923His Missense 11/27 - 1
13-32914260-A-C c.5768A>C p.Asp1923Ala Missense 11/27 - 7
13-32914260-A-T c.5768A>T p.Asp1923Val Missense 11/27 - 2
13-32914263-ATTCA-A c.5771_5774del p.Ile1924Argfs*38 Frameshift 11/27 - 8
13-32914265-C-T c.5773C>T