MSH2 mutS homolog 2

Canonical transcript: NM_000251

979 unique variant annotations were identified in 508 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-47630331-CATGGCGGTGCAGCCGAAGGAGACGCTGCAGTTGGAGAGCGCGGCCGAGGTCGGCTTCGT-C c.1_59del p.Met1_?20 Multi:SpliceDonorDeletion,CdsStartDeletion 1/16 - 2
2-47630331-A-G c.1A>G p.Met1? Missense 1/16 - 3
2-47630331-A-C c.1A>C p.Met1? Missense 1/16 - 6
2-47630331-A-T c.1A>T p.Met1? Missense 1/16 - 4
2-47630334-G-A c.4G>A p.Ala2Thr Missense 1/16 - 4
2-47630335-C-T c.5C>T p.Ala2Val Missense 1/16 - 1
2-47630336-G-T c.6G>T p.Ala2Ala Synonymous 1/16 - 1
2-47630344-CG-AT c.14_15delinsAT p.Pro5His Missense 1/16 - 1
2-47630344-C-A c.14C>A p.Pro5Gln Missense 1/16 - 5
2-47630344-CC-C c.14del p.Pro5Argfs*59 Frameshift 1/16 - 1
2-47630344-C-T c.14C>T p.Pro5Leu Missense 1/16 - 1
2-47630353-C-T c.23C>T p.Thr8Met Missense 1/16 - 8
2-47630353-C-G c.23C>G p.Thr8Arg Missense 1/16 - 1
2-47630358-C-T c.28C>T p.Gln10* Nonsense 1/16 - 1
2-47630364-GAG-TTT c.34_36delinsTTT p.Glu12Phe Missense 1/16 - 1
2-47630364-GA-AG c.34_35delinsAG p.Glu12Arg Missense 1/16 - 2
2-47630364-G-GG c.34dup p.Glu12Glyfs*70 Frameshift 1/16 - 1
2-47630367-AG-GC c.37_38delinsGC p.Ser13Ala Missense 1/16 - 3
2-47630367-AG-GA c.37_38delinsGA p.Ser13Asp Missense 1/16 - 1
2-47630367-A-T c.37A>T p.Ser13Cys Missense 1/16 - 2
2-47630373-GC-CG c.43_44delinsCG p.Ala15Arg Missense 1/16 - 1
2-47630379-G-T c.49G>T p.Val17Phe Missense 1/16 - 1
2-47630379-G-A c.49G>A p.Val17Ile Missense 1/16 - 1
2-47630387-C-A c.57C>A p.Phe19Leu Missense 1/16 - 1
2-47630387-C-G c.57C>G p.Phe19Leu Missense 1/16 - 1
2-47630385-T-C c.55T>C p.Phe19Leu Missense 1/16 - 1
2-47630397-T-C c.67T>C p.Phe23Leu Missense 1/16 - 1
2-47630399-T-G c.69T>G p.Phe23Leu Missense 1/16 - 1
2-47630399-T-A c.69T>A p.Phe23Leu Missense 1/16 - 1
2-47630401-CA-C c.71del p.Gln24Argfs*40 Frameshift 1/16 - 2
2-47630406-A-C c.76A>C p.Met26Leu Missense 1/16 - 1
2-47630406-A-T c.76A>T p.Met26Leu Missense 1/16 - 1
2-47630410-C-T c.80C>T p.Pro27Leu Missense 1/16 - 1
2-47630412-GG-G c.82del p.Glu28Argfs*36 Frameshift 1/16 - 1
2-47630423-C-T c.93C>T p.Thr31Thr Synonymous 1/16 - 1
2-47630424-A-T c.94A>T p.Thr32Ser Missense 1/16 - 1
2-47630425-C-G c.95C>G p.Thr32Ser Missense 1/16 - 1
2-47630426-C-CC c.96dup p.Thr33Hisfs*49 Frameshift 1/16 - 1
2-47630427-A-C c.97A>C p.Thr33Pro Missense 1/16 - 5
2-47630431-T-A c.101T>A p.Val34Glu Missense 1/16 - 2
2-47630440-TT-T c.110del p.Phe37Serfs*27 Frameshift 1/16 - 1
2-47630442-G-T c.112G>T p.Asp38Tyr Missense 1/16 - 1
2-47630445-CGG-AGC c.115_117delinsAGC p.Arg39Ser Missense 1/16 - 1
2-47630445-CG-GA c.115_116delinsGA p.Arg39Glu Missense 1/16 - 1
2-47630448-G-A c.118G>A p.Gly40Ser Missense 1/16 - 2
2-47630449-G-C c.119G>C p.Gly40Ala Missense 1/16 - 1
2-47630449-GG-G c.119del p.Gly40Alafs*24 Frameshift 1/16 - 1
2-47630458-A-G c.128A>G p.Tyr43Cys Missense 1/16 - 3
2-47630461-C-T c.131C>T p.Thr44Met Missense 1/16 - 4
2-47630463-G-GG c.133dup p.Ala45Glyfs*37 Frameshift 1/16 - 1
2-47630464-C-T c.134C>T p.Ala45Val Missense 1/16 - 1
2-47630466-GCACGGCGAGGACGCGCTGCTGGCCGCCCG-G c.136_164del p.His46Glyfs*26 Frameshift 1/16 - 2
2-47630468-C-G c.138C>G p.His46Gln Missense 1/16 - 5
2-47630472-G-T c.142G>T p.Glu48* Nonsense 1/16 - 3
2-47630475-GGACG-G c.145_148del p.Asp49Argfs*14 Frameshift 1/16 - 1
2-47630476-A-T c.146A>T p.Asp49Val Missense 1/16 - 2
2-47630483-G-GTAAA c.153_154insTAAA p.Leu52* Nonsense 1/16 - 1
2-47630485-CTGGC-C c.155_158del p.Leu52Profs*11 Frameshift 1/16 - 1
2-47630490-GC-TA c.160_161delinsTA p.Ala54Tyr Missense 1/16 - 1
2-47630493-CGG-GAC c.163_165delinsGAC p.Arg55Asp Missense 1/16 - 1
2-47630493-C-G c.163C>G p.Arg55Gly Missense 1/16 - 2
2-47630493-CC-C c.163del p.Arg55Glyfs*9 Frameshift 1/16 - 2
2-47630496-G-T c.166G>T p.Glu56* Nonsense 1/16 - 5
2-47630496-G-A c.166G>A p.Glu56Lys Missense 1/16 - 1
2-47630502-T-A c.172T>A p.Phe58Ile Missense 1/16 - 1
2-47630504-C-CC c.174dup p.Lys59Glnfs*23 Frameshift 1/16 - 3
2-47630506-A-AA c.176dup p.Thr60Aspfs*22 Frameshift 1/16 - 1
2-47630506-AA-A c.176del p.Lys59Argfs*5 Frameshift 1/16 - 1
2-47630511-C-T c.181C>T p.Gln61* Nonsense 1/16 - 6
2-47630511-C-A c.181C>A p.Gln61Lys Missense 1/16 - 1
2-47630512-A-C c.182A>C p.Gln61Pro Missense 1/16 - 3
2-47630516-G-GTA c.186_187insTA p.Val63* Nonsense 1/16 - 2
2-47630517-GG-G c.187del p.Val63* Frameshift 1/16 - 6
2-47630517-GTG-TTT c.187_189delinsTTT p.Val63Phe Missense 1/16 - 1
2-47630518-T-A c.188T>A p.Val63Glu Missense 1/16 - 1
2-47630520-A-G c.190A>G p.Ile64Val Missense 1/16 - 1
2-47630522-C-CC c.192dup p.Lys65Glnfs*17 Frameshift 1/16 - 1
2-47630523-A-T c.193A>T p.Lys65* Nonsense 1/16 - 1
2-47630526-TA-GC c.196_197delinsGC p.Tyr66Ala Missense 1/16 - 1
2-47630529-A-G c.199A>G p.Met67Val Missense 1/16 - 1
2-47630539-GCAGGTGAGGGCCGG-G c.209_211+11del - SpliceDonorDeletion 1/16 1/15 1
2-47630541-G-A c.211G>A p.Gly71Arg Missense 1/16 - 1
2-47630541-G-C c.211G>C p.Gly71Arg Missense 1/16 - 1
2-47630542-G-C c.211+1G>C - IntronicSNV - 1/15 1
2-47630550-C-G c.211+9C>G - IntronicSNV - 1/15 11
2-47630550-C-A c.211+9C>A - IntronicSNV - 1/15 6
2-47630550-C-T c.211+9C>T - IntronicSNV - 1/15 5
2-47630639-T-C c.211+98T>C - IntronicSNV - 1/15 2
2-47631091-G-C c.211+550G>C - IntronicSNV - 1/15 1
2-47635062-T-G c.212-478T>G - IntronicSNV - 1/15 1
2-47635517-A-C c.212-23A>C - IntronicSNV - 1/15 1
2-47635538-A-G c.212-2A>G - IntronicSNV - 1/15 1
2-47635539-G-A c.212-1G>A - IntronicSNV - 1/15 3
2-47635542-G-A c.214G>A p.Ala72Thr Missense 2/16 - 1
2-47635543-C-T c.215C>T p.Ala72Val Missense 2/16 - 1
2-47635545-A-C c.217A>C p.Lys73Gln Missense 2/16 - 1
2-47635546-A-G c.218A>G p.Lys73Arg Missense 2/16 - 1
2-47635551-CT-AA c.223_224delinsAA p.Leu75Lys Missense 2/16 - 1
2-47635554-C-T c.226C>T p.Gln76* Nonsense 2/16 - 4
2-47635556-G-T c.228G>T p.Gln76His Missense 2/16 - 1
2-47635556-G-C c.228G>C p.Gln76His Missense 2/16 - 1
2-47635557-GAG-G c.229_230del p.Ser77Cysfs*4 Frameshift 2/16 - 5
2-47635560-G-A c.232G>A p.Val78Ile Missense 2/16 - 3
2-47635572-A-T c.244A>T p.Lys82* Nonsense 2/16 - 1
2-47635583-T-TT c.255dup p.Glu86* Nonsense 2/16 - 1
2-47635584-G-T c.256G>T p.Glu86* Nonsense 2/16 - 1
2-47635588-C-G c.260C>G p.Ser87Cys Missense 2/16 - 1
2-47635593-G-T c.265G>T p.Val89Leu Missense 2/16 - 2
2-47635594-T-C c.266T>C p.Val89Ala Missense 2/16 - 1
2-47635599-AG-A c.271del p.Asp91Ilefs*83 Frameshift 2/16 - 1
2-47635601-T-G c.273T>G p.Asp91Glu Missense 2/16 - 1
2-47635601-T-A c.273T>A p.Asp91Glu Missense 2/16 - 1
2-47635602-C-G c.274C>G p.Leu92Val Missense 2/16 - 2
2-47635605-C-T c.277C>T p.Leu93Phe Missense 2/16 - 1
2-47635606-CTT-C c.278_279del p.Leu93Profs*6 Frameshift 2/16 - 1
2-47635606-T-C c.278T>C p.Leu93Pro Missense 2/16 - 1
2-47635607-TTCT-T c.279_281del p.Leu94del InFrameDeletion 2/16 - 3
2-47635615-G-A c.287G>A p.Arg96His Missense 2/16 - 4
2-47635617-C-T c.289C>T p.Gln97* Nonsense 2/16 - 3
2-47635621-A-G c.293A>G p.Tyr98Cys Missense 2/16 - 3
2-47635626-G-A c.298G>A p.Val100Ile Missense 2/16 - 2
2-47635632-G-A c.304G>A p.Val102Ile Missense 2/16 - 1
2-47635636-A-G c.308A>G p.Tyr103Cys Missense 2/16 - 3
2-47635645-G-A c.317G>A p.Arg106Lys Missense 2/16 - 2
2-47635649-CT-C c.321del p.Gly108Glufs*66 Frameshift 2/16 - 1
2-47635656-A-C c.328A>C p.Lys110Gln Missense 2/16 - 1
2-47635657-A-G c.329A>G p.Lys110Arg Missense 2/16 - 1
2-47635657-A-C c.329A>C p.Lys110Thr Missense 2/16 - 1
2-47635660-C-T c.332C>T p.Ala111Val Missense 2/16 - 1
2-47635667-G-A c.339G>A p.Lys113Lys Synonymous 2/16 - 1
2-47635668-GG-G c.340del p.Glu114Argfs*60 Frameshift 2/16 - 1
2-47635672-AA-A c.344del p.Asn115Metfs*59 Frameshift 2/16 - 1
2-47635691-T-G c.363T>G p.Tyr121* Nonsense 2/16 - 2
2-47635695-G-A c.366+1G>A - IntronicSNV - 2/15 1
2-47637239-C-T c.373C>T p.Pro125Ser Missense 3/16 - 1
2-47637240-C-T c.374C>T p.Pro125Leu Missense 3/16 - 1
2-47637242-G-A c.376G>A p.Gly126Ser Missense 3/16 - 1
2-47637243-GG-G c.377del p.Gly126Alafs*48 Frameshift 3/16 - 1
2-47637246-A-G c.380A>G p.Asn127Ser Missense 3/16 - 20
2-47637246-A-T c.380A>T p.Asn127Ile Missense 3/16 - 1
2-47637247-T-C c.381T>C p.Asn127Asn Synonymous 3/16 - 1
2-47637248-TC-T c.382del p.Leu128Serfs*46 Frameshift 3/16 - 1
2-47637248-C-G c.382C>G p.Leu128Val Missense 3/16 - 1
2-47637254-C-T c.388C>T p.Gln130* Nonsense 3/16 - 1
2-47637254-TCA-T c.388_389del p.Gln130Valfs*2 Frameshift 3/16 - 9
2-47637254-CA-GT c.388_389delinsGT p.Gln130Val Missense 3/16 - 1
2-47637260-G-T c.394G>T p.Glu132* Nonsense 3/16 - 1
2-47637269-CT-TA c.403_404delinsTA p.Leu135Tyr Missense 3/16 - 1
2-47637274-TT-T c.408del p.Phe136Leufs*38 Frameshift 3/16 - 1
2-47637282-AA-A c.416del p.Asn139Metfs*35 Frameshift 3/16 - 1
2-47637285-A-G c.419A>G p.Asp140Gly Missense 3/16 - 1
2-47637286-T-TT c.420dup p.Met141Tyrfs*11 Frameshift 3/16 - 1
2-47637287-A-G c.421A>G p.Met141Val Missense 3/16 - 1
2-47637291-C-G c.425C>G p.Ser142* Nonsense 3/16 - 2
2-47637296-TC-AT c.430_431delinsAT p.Ser144Ile Missense 3/16 - 1
2-47637301-T-G c.435T>G p.Ile145Met Missense 3/16 - 12
2-47637306-T-G c.440T>G p.Val147Gly Missense 3/16 - 1
2-47637309-T-A c.443T>A p.Val148Glu Missense 3/16 - 1
2-47637311-GG-AC c.445_446delinsAC p.Gly149Thr Missense 3/16 - 1
2-47637320-AA-A c.454del p.Met152Cysfs*22 Frameshift 3/16 - 1
2-47637324-C-G c.458C>G p.Ser153Cys Missense 3/16 - 2
2-47637337-C-T c.471C>T p.Gly157Gly Synonymous 3/16 - 2
2-47637337-C-A c.471C>A p.Gly157Gly Synonymous 3/16 - 3
2-47637341-A-AA c.475dup p.Arg159Lysfs*19 Frameshift 3/16 - 1
2-47637348-T-A c.482T>A p.Val161Asp Missense 3/16 - 4
2-47637350-G-A c.484G>A p.Gly162Arg Missense 3/16 - 7
2-47637351-G-C c.485G>C p.Gly162Ala Missense 3/16 - 2
2-47637354-T-A c.488T>A p.Val163Asp Missense 3/16 - 4
2-47637354-T-G c.488T>G p.Val163Gly Missense 3/16 - 2
2-47637356-G-A c.490G>A p.Gly164Arg Missense 3/16 - 4
2-47637356-TGGGTATGTGGATTCCATAC-T c.490_508del p.Gly164Argfs*4 Frameshift 3/16 - 1
2-47637357-G-A c.491G>A p.Gly164Glu Missense 3/16 - 2
2-47637359-T-G c.493T>G p.Tyr165Asp Missense 3/16 - 1
2-47637365-G-C c.499G>C p.Asp167His Missense 3/16 - 8
2-47637371-A-G c.505A>G p.Ile169Val Missense 3/16 - 6
2-47637374-C-T c.508C>T p.Gln170* Nonsense 3/16 - 3
2-47637377-A-G c.511A>G p.Arg171Gly Missense 3/16 - 1
2-47637378-G-A c.512G>A p.Arg171Lys Missense 3/16 - 1
2-47637379-GG-G c.513del p.Lys172Asnfs*2 Frameshift 3/16 - 1
2-47637384-T-C c.518T>C p.Leu173Pro Missense 3/16 - 3
2-47637384-T-G c.518T>G p.Leu173Arg Missense 3/16 - 6
2-47637390-T-C c.524T>C p.Leu175Pro Missense 3/16 - 1
2-47637394-GTG-G c.528_529del p.Cys176* Frameshift 3/16 - 2
2-47637395-G-A c.529G>A p.Glu177Lys Missense 3/16 - 2
2-47637396-GAA-G c.530_531del p.Glu177Valfs*3 Frameshift 3/16 - 3
2-47637411-GATCAGTTC-G c.545_552del p.Asp182Valfs*4 Frameshift 3/16 - 1
2-47637413-C-T c.547C>T p.Gln183* Nonsense 3/16 - 1
2-47637423-A-G c.557A>G p.Asn186Ser Missense 3/16 - 3
2-47637426-T-C c.560T>C p.Leu187Pro Missense 3/16 - 4
2-47637426-T-G c.560T>G p.Leu187Arg Missense 3/16 - 2
2-47637428-G-C c.562G>C p.Glu188Gln Missense 3/16 - 1
2-47637434-CT-AC c.568_569delinsAC p.Leu190Thr Missense 3/16 - 1
2-47637437-CCTC-C c.571_573del p.Leu191del InFrameDeletion 3/16 - 4
2-47637439-C-T c.573C>T p.Leu191Leu Synonymous 3/16 - 1
2-47637447-T-C c.581T>C p.Ile194Thr Missense 3/16 - 1
2-47637458-G-GG c.592dup p.Glu198Glyfs*34 Frameshift 3/16 - 1
2-47637459-A-G c.593A>G p.Glu198Gly Missense 3/16 - 3
2-47637460-A-G c.594A>G p.Glu198Glu Synonymous 3/16 - 1
2-47637461-TG-CA c.595_596inv p.Cys199His Missense 3/16 - 1
2-47637461-T-C c.595T>C p.Cys199Arg Missense 3/16 - 5
2-47637462-TG-T c.596del p.Cys199Leufs*15 Frameshift 3/16 - 2
2-47637465-T-A c.599T>A p.Val200Asp Missense 3/16 - 1
2-47637473-G-C c.607G>C p.Gly203Arg Missense 3/16 - 1
2-47637473-G-A c.607G>A p.Gly203Arg Missense 3/16 - 1
2-47637476-G-T c.610G>T p.Gly204* Nonsense 3/16 - 3
2-47637477-G-C c.611G>C p.Gly204Ala Missense 3/16 - 1
2-47637479-G-C c.613G>C p.Glu205Gln Missense 3/16 - 3
2-47637479-G-T c.613G>T p.Glu205* Nonsense 3/16 - 2
2-47637485-G-T c.619G>T p.Ala207Ser Missense 3/16 - 1
2-47637499-G-GG c.633dup p.Lys212Glufs*20 Frameshift 3/16 - 1
2-47637503-C-G c.637C>G p.Leu213Val Missense 3/16 - 1
2-47637504-CTG-C c.638_639del p.Leu213Glnfs*18 Frameshift 3/16 - 1
2-47637504-T-TT c.638dup p.Arg214Glufs*18 Frameshift 3/16 - 2
2-47637506-AGA-TGT c.640_642delinsTGT p.Arg214Cys Missense 3/16 - 1
2-47637507-G-T c.641G>T p.Arg214Ile Missense 3/16 - 1
2-47637508-GACAG-G c.642_645del p.Gln215* SpliceDonorDeletion 3/16 - 2
2-47637509-C-T c.643C>T p.Gln215* Nonsense 3/16 - 1
2-47637512-G-A c.645+1G>A - IntronicSNV - 3/15 2
2-47639507-TC-T c.646-46del - IntronicDeletion - 3/15 1
2-47639551-A-G c.646-2A>G - IntronicSNV - 3/15 1
2-47639554-T-TT c.647dup p.Ile217Asnfs*15 SpliceAcceptorInsertion 4/16 - 1
2-47639556-A-AA c.649dup p.Ile217Asnfs*15 Frameshift 4/16 - 1
2-47639556-AATT-A c.649_651del p.Ile217del InFrameDeletion 4/16 - 1
2-47639558-T-TT c.651dup p.Gln218Serfs*14 Frameshift 4/16 - 1
2-47639562-A-T c.655A>T p.Arg219* Nonsense 4/16 - 1
2-47639562-A-G c.655A>G p.Arg219Gly Missense 4/16 - 1
2-47639573-TT-T c.666del p.Leu223* Frameshift 4/16 - 1
2-47639580-ACA-TGT c.673_675inv p.Thr225Cys Missense 4/16 - 1
2-47639583-G-T c.676G>T p.Glu226* Nonsense 4/16 - 1
2-47639587-AGA-A c.680_681del p.Arg227Lysfs*4 Frameshift 4/16 - 1
2-47639587-AGAAA-A c.680_683del p.Arg227Lysfs*18 Frameshift 4/16 - 2
2-47639589-A-G c.682A>G p.Lys228Glu Missense 4/16 - 2
2-47639594-AA-A c.687del p.Ala230Leufs*16 Frameshift 4/16 - 2
2-47639598-TG-T c.691del p.Asp231Thrfs*15 Frameshift 4/16 - 1
2-47639618-TTTATCAGGACCTCAACC-T c.711_727del p.Ile237Metfs*13 Frameshift 4/16 - 1
2-47639620-A-T c.713A>T p.Tyr238Phe Missense 4/16 - 1
2-47639622-C-T c.715C>T p.Gln239* Nonsense 4/16 - 1
2-47639625-GA-AG c.718_719delinsAG p.Asp240Ser Missense 4/16 - 1
2-47639625-GG-G c.718del p.Asp240Thrfs*6 Frameshift 4/16 - 1
2-47639628-CT-AG c.721_722inv p.Leu241Ser Missense 4/16 - 1
2-47639635-G-A c.728G>A p.Arg243Gln Missense 4/16 - 2
2-47639638-T-TT c.731dup p.Leu244Phefs*12 Frameshift 4/16 - 1
2-47639643-A-C c.736A>C p.Lys246Gln Missense 4/16 - 1
2-47639649-A-G c.742A>G p.Lys248Glu Missense 4/16 - 1
2-47639649-A-C c.742A>C p.Lys248Gln Missense 4/16 - 1
2-47639664-ATG-TAT c.757_759delinsTAT p.Met253Tyr Missense 4/16 - 1
2-47639665-ATGAATA-A c.758_763del p.Met253_Asn254del InFrameDeletion 4/16 - 1
2-47639666-TGAAT-T c.759_762del p.Met253Ilefs*20 Frameshift 4/16 - 1
2-47639668-AA-A c.761del p.Asn254Ilefs*20 Frameshift 4/16 - 1
2-47639680-T-A c.773T>A p.Leu258* Nonsense 4/16 - 1
2-47639682-C-T c.775C>T p.Pro259Ser Missense 4/16 - 1
2-47639688-A-G c.781A>G p.Met261Val Missense 4/16 - 1
2-47639693-G-GT c.786_787insT p.Asn263* Nonsense 4/16 - 1
2-47639697-C-G c.790C>G p.Gln264Glu Missense 4/16 - 1
2-47639697-C-T c.790C>T p.Gln264* Nonsense 4/16 - 1
2-47639699-G-C c.792G>C p.Gln264His Missense 4/16 - 1
2-47639700-G-T c.792+1G>T - IntronicSNV - 4/15 1
2-47639700-G-A c.792+1G>A - IntronicSNV - 4/15 3
2-47641406-A-C c.793-2A>C - IntronicSNV - 4/15 1
2-47641406-A-T c.793-2A>T - IntronicSNV - 4/15 1
2-47641410-TTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCA-T c.795_853del p.Ala266Leufs*5 InFrameDeletion 5/16 - 8
2-47641411-GCA-TGG c.796_798delinsTGG p.Ala266Trp Missense 5/16 - 1
2-47641418-C-T c.803C>T p.Ser268Leu Missense 5/16 - 1
2-47641425-TGT-T c.810_811del p.Ser271Cysfs*12 Frameshift 5/16 - 1
2-47641429-G-T c.814G>T p.Ala272Ser Missense 5/16 - 1
2-47641430-C-T c.815C>T p.Ala272Val Missense 5/16 - 11
2-47641432-G-A c.817G>A p.Val273Ile Missense 5/16 - 1
2-47641445-T-G c.830T>G p.Leu277* Nonsense 5/16 - 1
2-47641445-TT-T c.830del p.Leu277* Frameshift 5/16 - 1
2-47641447-AG-A c.832del p.Glu278Asnfs*14 Frameshift 5/16 - 1
2-47641450-C-G c.835C>G p.Leu279Val Missense 5/16 - 2
2-47641451-CT-C c.836del p.Leu279Profs*13 Frameshift 5/16 - 1
2-47641455-A-C c.840A>C p.Leu280Phe Missense 5/16 - 2
2-47641455-A-T c.840A>T p.Leu280Phe Missense 5/16 - 2
2-47641455-TAT-T c.840_841del p.Leu280Phefs*3 Frameshift 5/16 - 1
2-47641457-C-G c.842C>G p.Ser281* Nonsense 5/16 - 2
2-47641462-GAT-AAG c.847_849delinsAAG p.Asp283Lys Missense 5/16 - 1
2-47641469-AA-A c.854del p.Asn285Thrfs*7 Frameshift 5/16 - 1
2-47641475-G-GG c.860dup p.Gln288Thrfs*3 Frameshift 5/16 - 1
2-47641477-C-T c.862C>T p.Gln288* Nonsense 5/16 - 4
2-47641478-CA-C c.863del p.Gln288Argfs*4 Frameshift 5/16 - 1
2-47641481-T-G c.866T>G p.Phe289Cys Missense 5/16 - 1
2-47641483-G-T c.868G>T p.Glu290* Nonsense 5/16 - 1
2-47641488-TGACT-T c.873_876del p.Thr292Leufs*8 Frameshift 5/16 - 1
2-47641489-A-T c.874A>T p.Thr292Ser Missense 5/16 - 1
2-47641491-T-TC c.876_877insC p.Thr293Hisfs*3 Frameshift 5/16 - 2
2-47641496-TTT-T c.881_882del p.Phe294* Frameshift 5/16 - 1
2-47641499-A-G c.884A>G p.Asp295Gly Missense 5/16 - 1
2-47641507-C-T c.892C>T p.Gln298* Nonsense 5/16 - 6
2-47641510-T-C c.895T>C p.Tyr299His Missense 5/16 - 1
2-47641512-T-G c.897T>G p.Tyr299* Nonsense 5/16 - 3
2-47641512-T-A c.897T>A p.Tyr299* Nonsense 5/16 - 3
2-47641520-T-A c.905T>A p.Leu302* Nonsense 5/16 - 3
2-47641520-T-C c.905T>C p.Leu302Ser Missense 5/16 - 1
2-47641528-G-A c.913G>A p.Ala305Thr Missense 5/16 - 2
2-47641529-GCAGCAGTCAG-G c.914_923del p.Ala305Glufs*23 Frameshift 5/16 - 1
2-47641544-T-C c.929T>C p.Leu310Pro Missense 5/16 - 1
2-47641544-T-G c.929T>G p.Leu310Arg Missense 5/16 - 1
2-47641555-TCAG-T c.940_942del p.Gln314del InFrameDeletion 5/16 - 1
2-47641555-C-T c.940C>T p.Gln314* Nonsense 5/16 - 1
2-47641558-GGTAA-G c.942+1_942+4del - SpliceDonorDeletion - 5/15 1
2-47641559-GT-G c.942+2del - IntronicDeletion - 5/15 1
2-47641559-GTAAAAAA-G c.942+2_942+8del - IntronicDeletion - 5/15 1
2-47641559-GTAAAAA-G c.942+2_942+7del - IntronicDeletion - 5/15 1
2-47641559-T-G c.942+2T>G - IntronicSNV - 5/15 2
2-47641559-T-C c.942+2T>C - IntronicSNV - 5/15 1
2-47641560-A-G c.942+3A>G - IntronicSNV - 5/15 2
2-47641560-A-T c.942+3A>T - IntronicSNV - 5/15 38
2-47641565-A-T c.942+8A>T - IntronicSNV - 5/15 1
2-47641581-AAAAAAA-A c.942+24_942+29del - IntronicDeletion - 5/15 1
2-47641582-AAAAAA-A c.942+25_942+29del - IntronicDeletion - 5/15 1
2-47641583-AAAAA-A c.942+26_942+29del - IntronicDeletion - 5/15 1
2-47641584-AAAA-A c.942+27_942+29del - IntronicDeletion - 5/15 1
2-47643425-T-A c.943-10T>A - IntronicSNV - 5/15 1
2-47643434-G-C c.943-1G>C - IntronicSNV - 5/15 2
2-47643434-G-A c.943-1G>A - IntronicSNV - 5/15 2
2-47643434-G-T c.943-1G>T - IntronicSNV - 5/15 1
2-47643436-G-T c.944G>T p.Gly315Val Missense 6/16 - 5
2-47643436-G-A c.944G>A p.Gly315Asp Missense 6/16 - 3
2-47643438-TC-AT c.946_947delinsAT p.Ser316Ile Missense 6/16 - 1
2-47643441-G-C c.949G>C p.Val317Leu Missense 6/16 - 2
2-47643444-G-A c.952G>A p.Glu318Lys Missense 6/16 - 1
2-47643450-AC-GG c.958_959delinsGG p.Thr320Gly Missense 6/16 - 1
2-47643457-G-T c.965G>T p.Gly322Val Missense 6/16 - 7
2-47643457-G-A c.965G>A p.Gly322Asp Missense 6/16 - 48
2-47643458-C-G c.966C>G p.Gly322Gly Synonymous 6/16 - 1
2-47643458-C-A c.966C>A p.Gly322Gly Synonymous 6/16 - 1
2-47643458-C-T c.966C>T p.Gly322Gly Synonymous 6/16 - 1
2-47643460-C-T c.968C>T p.Ser323Phe Missense 6/16 - 1
2-47643460-C-A c.968C>A p.Ser323Tyr Missense 6/16 - 2
2-47643461-CTC-C c.969_970del p.Gln324Valfs*8 Frameshift 6/16 - 2
2-47643462-C-T c.970C>T p.Gln324* Nonsense 6/16 - 1
2-47643462-C-G c.970C>G p.Gln324Glu Missense 6/16 - 1
2-47643464-G-A c.972G>A p.Gln324Gln Synonymous 6/16 - 1
2-47643474-G-C c.982G>C p.Ala328Pro Missense 6/16 - 2
2-47643476-C-G c.984C>G p.Ala328Ala Synonymous 6/16 - 1
2-47643476-C-T c.984C>T p.Ala328Ala Synonymous 6/16 - 2
2-47643476-C-A c.984C>A p.Ala328Ala Synonymous 6/16 - 1
2-47643481-T-TT c.989dup p.Asn331Glufs*2 Frameshift 6/16 - 1
2-47643481-T-C c.989T>C p.Leu330Pro Missense 6/16 - 1
2-47643484-A-G c.992A>G p.Asn331Ser Missense 6/16 - 1
2-47643484-A-C c.992A>C p.Asn331Thr Missense 6/16 - 1
2-47643489-TG-AC c.997_998delinsAC p.Cys333Thr Missense 6/16 - 1
2-47643489-T-C c.997T>C p.Cys333Arg Missense 6/16 - 2
2-47643490-G-A c.998G>A p.Cys333Tyr Missense 6/16 - 6
2-47643496-C-T c.1004C>T p.Thr335Ile Missense 6/16 - 1
2-47643504-G-A c.1012G>A p.Gly338Arg Missense 6/16 - 3
2-47643505-G-A c.1013G>A p.Gly338Glu Missense 6/16 - 1
2-47643506-A-T c.1014A>T p.Gly338Gly Synonymous 6/16 - 1
2-47643506-A-C c.1014A>C p.Gly338Gly Synonymous 6/16 - 1
2-47643506-A-G c.1014A>G p.Gly338Gly Synonymous 6/16 - 1
2-47643513-CT-GC c.1021_1022delinsGC p.Leu341Ala Missense 6/16 - 1
2-47643514-T-C c.1022T>C p.Leu341Pro Missense 6/16 - 2
2-47643516-TG-T c.1024del p.Val342Leufs*15 Frameshift 6/16 - 1
2-47643516-G-A c.1024G>A p.Val342Ile Missense 6/16 - 2
2-47643526-G-A c.1034G>A p.Trp345* Nonsense 6/16 - 2
2-47643527-G-A c.1035G>A p.Trp345* Nonsense 6/16 - 2
2-47643529-T-A c.1037T>A p.Ile346Asn Missense 6/16 - 1
2-47643534-C-T c.1042C>T p.Gln348* Nonsense 6/16 - 2
2-47643535-A-G c.1043A>G p.Gln348Arg Missense 6/16 - 1
2-47643536-G-C c.1044G>C p.Gln348His Missense 6/16 - 1
2-47643537-C-G c.1045C>G p.Pro349Ala Missense 6/16 - 4
2-47643538-C-G c.1046C>G p.Pro349Arg Missense 6/16 - 8
2-47643538-C-T c.1046C>T p.Pro349Leu Missense 6/16 - 7
2-47643551-AG-A c.1059del p.Asn354Thrfs*3 Frameshift 6/16 - 1
2-47643554-ACAGAA-A c.1062_1066del p.Ile356Glyfs*31 Frameshift 6/16 - 1
2-47643556-G-A c.1064G>A p.Arg355Lys Missense 6/16 - 1
2-47643559-T-G c.1067T>G p.Ile356Arg Missense 6/16 - 1
2-47643559-T-A c.1067T>A p.Ile356Lys Missense 6/16 - 1
2-47643566-G-C c.1074G>C p.Glu358Asp Missense 6/16 - 1
2-47643566-G-T c.1074G>T p.Glu358Asp Missense 6/16 - 1
2-47643569-G-A c.1076+1G>A - IntronicSNV - 6/15 4
2-47643569-G-T c.1076+1G>T - IntronicSNV - 6/15 1
2-47645249-G-T c.1076+1681G>T - IntronicSNV - 6/15 6
2-47646968-C-T c.1076+3400C>T - IntronicSNV - 6/15 9
2-47654145-T-G c.1077-2736T>G - IntronicSNV - 6/15 1
2-47654844-G-T c.1077-2037G>T - IntronicSNV - 6/15 2
2-47656801-G-T c.1077-80G>T - IntronicSNV - 6/15 5
2-47656801-G-A c.1077-80G>A - IntronicSNV - 6/15 6
2-47656871-T-C c.1077-10T>C - IntronicSNV - 6/15 1
2-47656879-A-C c.1077-2A>C - IntronicSNV - 6/15 1
2-47656880-G-T c.1077-1G>T - IntronicSNV - 6/15 1
2-47656881-A-C c.1077A>C p.Arg359Ser Missense 7/16 - 3
2-47656881-A-T c.1077A>T p.Arg359Ser Missense 7/16 - 3
2-47656886-AA-A c.1082del p.Asn361Ilefs*2 Frameshift 7/16 - 1
2-47656890-TAGTGGAAGCTTTTGTAGAAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTTC-T c.1086_1144del p.Val363Serfs*6 InFrameDeletion 7/16 - 1
2-47656903-G-A c.1099G>A p.Val367Ile Missense 7/16 - 1
2-47656912-G-A c.1108G>A p.Ala370Thr Missense 7/16 - 2
2-47656924-C-T c.1120C>T p.Gln374* Nonsense 7/16 - 2
2-47656928-C-CG c.1124_1125insG p.Leu376Phefs*13 Frameshift 7/16 - 1
2-47656939-AGATTT-A c.1135_1139del p.Asp379Thrfs*8 Frameshift 7/16 - 1
2-47656944-TA-T c.1140del p.Leu380Phefs*32 Frameshift 7/16 - 1
2-47656947-T-TA c.1143_1144insA p.Arg382Thrfs*7 Frameshift 7/16 - 2
2-47656948-CGT-TGA c.1144_1146delinsTGA p.Arg382* Nonsense 7/16 - 2
2-47656948-TCGTCGATTCCCAGATCTTAACCGACTT-T c.1144_1170del p.Arg382_Leu390del InFrameDeletion 7/16 - 1
2-47656948-TC-T c.1144del p.Arg382Valfs*30 Frameshift 7/16 - 1
2-47656949-G-A c.1145G>A p.Arg382His Missense 7/16 - 2
2-47656951-C-T c.1147C>T p.Arg383* Nonsense 7/16 - 10
2-47656955-T-A c.1151T>A p.Phe384Tyr Missense 7/16 - 1
2-47656960-G-T c.1156G>T p.Asp386Tyr Missense 7/16 - 1
2-47656963-C-G c.1159C>G p.Leu387Val Missense 7/16 - 1
2-47656969-C-T c.1165C>T p.Arg389* Nonsense 7/16 - 13
2-47656970-G-A c.1166G>A p.Arg389Gln Missense 7/16 - 2
2-47656972-C-T c.1168C>T p.Leu390Phe Missense 7/16 - 16
2-47656981-AA-GC c.1177_1178delinsGC p.Lys393Ala Missense 7/16 - 2
2-47656982-A-T c.1178A>T p.Lys393Met Missense 7/16 - 3
2-47656986-T-G c.1182T>G p.Phe394Leu Missense 7/16 - 1
2-47656986-T-A c.1182T>A p.Phe394Leu Missense 7/16 - 1
2-47656984-T-C c.1180T>C p.Phe394Leu Missense 7/16 - 1
2-47656987-C-T c.1183C>T p.Gln395* Nonsense 7/16 - 2
2-47656991-G-A c.1187G>A p.Arg396Lys Missense 7/16 - 1
2-47656993-C-T c.1189C>T p.Gln397* Nonsense 7/16 - 1
2-47656999-GC-AA c.1195_1196delinsAA p.Ala399Lys Missense 7/16 - 1
2-47657007-A-AA c.1203dup p.Gln402Thrfs*15 Frameshift 7/16 - 4
2-47657008-C-T c.1204C>T p.Gln402* Nonsense 7/16 - 5
2-47657008-AC-A c.1204del p.Gln402Lysfs*10 Frameshift 7/16 - 1
2-47657019-C-A c.1215C>A p.Tyr405* Nonsense 7/16 - 6
2-47657020-C-T c.1216C>T p.Arg406* Nonsense 7/16 - 15
2-47657024-T-C c.1220T>C p.Leu407Pro Missense 7/16 - 1
2-47657025-C-A c.1221C>A p.Leu407Leu Synonymous 7/16 - 1
2-47657025-C-G c.1221C>G p.Leu407Leu Synonymous 7/16 - 1
2-47657025-C-T c.1221C>T p.Leu407Leu Synonymous 7/16 - 1
2-47657026-T-TT c.1222dup p.Tyr408Leufs*9 Frameshift 7/16 - 1
2-47657027-A-G c.1223A>G p.Tyr408Cys Missense 7/16 - 2
2-47657028-T-G c.1224T>G p.Tyr408* Nonsense 7/16 - 2
2-47657028-T-A c.1224T>A p.Tyr408* Nonsense 7/16 - 2
2-47657029-C-A c.1225C>A p.Gln409Lys Missense 7/16 - 2
2-47657029-C-T c.1225C>T p.Gln409* Nonsense 7/16 - 1
2-47657030-CAG-C c.1226_1227del p.Gln409Argfs*7 Frameshift 7/16 - 8
2-47657032-G-T c.1228G>T p.Gly410Cys Missense 7/16 - 1
2-47657033-GG-G c.1229del p.Gly410Valfs*2 Frameshift 7/16 - 1
2-47657039-A-G c.1235A>G p.Asn412Ser Missense 7/16 - 1
2-47657041-C-T c.1237C>T p.Gln413* Nonsense 7/16 - 1
2-47657047-C-T c.1243C>T p.Pro415Ser Missense 7/16 - 1
2-47657053-TG-T c.1249del p.Val417Leufs*21 Frameshift 7/16 - 3
2-47657053-TGTTAT-T c.1249_1253del p.Val417Thrfs*7 Frameshift 7/16 - 1
2-47657055-T-TT c.1251dup p.Ile418Tyrfs*8 Frameshift 7/16 - 1
2-47657059-C-T c.1255C>T p.Gln419* Nonsense 7/16 - 5
2-47657059-C-A c.1255C>A p.Gln419Lys Missense 7/16 - 5
2-47657065-C-G c.1261C>G p.Leu421Val Missense 7/16 - 1
2-47657065-C-A c.1261C>A p.Leu421Met Missense 7/16 - 1
2-47657065-CT-TC c.1261_1262delinsTC p.Leu421Ser Missense 7/16 - 1
2-47657068-G-T c.1264G>T p.Glu422* Nonsense 7/16 - 1
2-47657079-A-G c.1275A>G p.Glu425Glu Synonymous 7/16 - 4
2-47657080-G-A c.1276G>A p.Gly426Arg Missense 7/16 - 1
2-47657080-G-C c.1276G>C p.Gly426Arg Missense 7/16 - 1
2-47657082-T-A c.1276+2T>A - IntronicSNV - 7/15 2
2-47657127-T-A c.1276+47T>A - IntronicSNV - 7/15 1
2-47657278-CTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCTGAGTGGCTGGGATTACA-C c.1276+198_1276+256del - Unclassified - 7/15 1
2-47657684-G-A c.1276+604G>A - IntronicSNV - 7/15 3
2-47658429-T-A c.1276+1349T>A - IntronicSNV - 7/15 1
2-47658474-A-T c.1276+1394A>T - IntronicSNV - 7/15 2
2-47663845-G-A c.1276+6765G>A - IntronicSNV - 7/15 3
2-47665697-T-G c.1277-6990T>G - IntronicSNV - 7/15 1
2-47666838-T-C c.1277-5849T>C - IntronicSNV - 7/15 2
2-47666838-T-G c.1277-5849T>G - IntronicSNV - 7/15 2
2-47670304-G-C c.1277-2383G>C - IntronicSNV - 7/15 2
2-47670390-G-A c.1277-2297G>A - IntronicSNV - 7/15 1
2-47671508-TGCTAAAATTTCTGGAGAAGTTTGGGAACTATTGTTTTGGAGTGAAATGCAGTGTGTTAG-T c.1277-1179_1277-1121del - Unclassified - 7/15 1
2-47671565-A-G c.1277-1122A>G - IntronicSNV - 7/15 2
2-47671565-A-T c.1277-1122A>T - IntronicSNV - 7/15 2
2-47671742-A-T c.1277-945A>T - IntronicSNV - 7/15 1
2-47671742-A-C c.1277-945A>C - IntronicSNV - 7/15 1
2-47672475-T-G c.1277-212T>G - IntronicSNV - 7/15 4
2-47672475-T-A c.1277-212T>A - IntronicSNV - 7/15 5
2-47672569-G-A c.1277-118G>A - IntronicSNV - 7/15 10
2-47672569-G-C c.1277-118G>C - IntronicSNV - 7/15 8
2-47672680-C-A c.1277-7C>A - IntronicSNV - 7/15 1
2-47672688-GAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTG-G c.1279_1337del p.Lys427Leufs*21 Unclassified 8/16 - 1
2-47672694-C-G c.1284C>G p.His428Gln Missense 8/16 - 2
2-47672696-CA-C c.1286del p.Gln429Argfs*9 Frameshift 8/16 - 1
2-47672699-AA-TG c.1289_1290delinsTG p.Lys430Met Missense 8/16 - 1
2-47672704-ATTGTT-A c.1294_1298del p.Leu432Glyfs*9 Frameshift 8/16 - 1
2-47672705-T-C c.1295T>C p.Leu432Ser Missense 8/16 - 1
2-47672718-T-TT c.1308dup p.Val437Cysfs*6 Frameshift 8/16 - 2
2-47672720-GT-G c.1310del p.Val437Glyfs*17 Frameshift 8/16 - 1
2-47672726-C-T c.1316C>T p.Pro439Leu Missense 8/16 - 1
2-47672729-T-C c.1319T>C p.Leu440Pro Missense 8/16 - 1
2-47672741-G-T c.1331G>T p.Arg444Leu Missense 8/16 - 1
2-47672749-T-G c.1339T>G p.Phe447Val Missense 8/16 - 1
2-47672749-T-C c.1339T>C p.Phe447Leu Missense 8/16 - 1
2-47672751-C-A c.1341C>A p.Phe447Leu Missense 8/16 - 1
2-47672751-C-G c.1341C>G p.Phe447Leu Missense 8/16 - 1
2-47672754-C-T c.1344C>T p.Ser448Ser Synonymous 8/16 - 1
2-47672756-A-C c.1346A>C p.Lys449Thr Missense 8/16 - 1
2-47672771-T-G c.1361T>G p.Ile454Arg Missense 8/16 - 1
2-47672773-G-T c.1363G>T p.Glu455* Nonsense 8/16 - 1
2-47672783-T-G c.1373T>G p.Leu458* Nonsense 8/16 - 1
2-47672785-GA-AT c.1375_1376delinsAT p.Asp459Ile Missense 8/16 - 1
2-47672794-C-T c.1384C>T p.Gln462* Nonsense 8/16 - 1
2-47672797-G-T c.1386+1G>T - IntronicSNV - 8/15 3
2-47672797-G-A c.1386+1G>A - IntronicSNV - 8/15 1
2-47672799-A-G c.1386+3A>G - IntronicSNV - 8/15 1
2-47673515-T-C c.1386+719T>C - IntronicSNV - 8/15 4
2-47675331-G-C c.1386+2535G>C - IntronicSNV - 8/15 1
2-47680173-G-T c.1386+7377G>T - IntronicSNV - 8/15 1
2-47680173-G-A c.1386+7377G>A - IntronicSNV - 8/15 1
2-47685659-G-C c.1387-4511G>C - IntronicSNV - 8/15 1
2-47685659-G-T c.1387-4511G>T - IntronicSNV - 8/15 1
2-47685659-G-A c.1387-4511G>A - IntronicSNV - 8/15 1
2-47686376-A-G c.1387-3794A>G - IntronicSNV - 8/15 1
2-47686376-A-T c.1387-3794A>T - IntronicSNV - 8/15 1
2-47686573-G-T c.1387-3597G>T - IntronicSNV - 8/15 1
2-47686573-G-A c.1387-3597G>A - IntronicSNV - 8/15 1
2-47686686-A-G c.1387-3484A>G - IntronicSNV - 8/15 2
2-47686686-A-T c.1387-3484A>T - IntronicSNV - 8/15 2
2-47687649-A-C c.1387-2521A>C - IntronicSNV - 8/15 1
2-47687649-A-T c.1387-2521A>T - IntronicSNV - 8/15 1
2-47689217-G-A c.1387-953G>A - IntronicSNV - 8/15 2
2-47689217-G-T c.1387-953G>T - IntronicSNV - 8/15 2
2-47689256-A-G c.1387-914A>G - IntronicSNV - 8/15 2
2-47689920-G-A c.1387-250G>A - IntronicSNV - 8/15 2
2-47690161-T-A c.1387-9T>A - IntronicSNV - 8/15 1
2-47690173-G-A c.1390G>A p.Glu464Lys Missense 9/16 - 1
2-47690180-A-G c.1397A>G p.His466Arg Missense 9/16 - 2
2-47690182-G-A c.1399G>A p.Glu467Lys Missense 9/16 - 1
2-47690182-G-T c.1399G>T p.Glu467* Nonsense 9/16 - 1
2-47690191-TG-T c.1408del p.Val470* Frameshift 9/16 - 2
2-47690196-A-AA c.1413dup p.Pro472Thrfs*4 Frameshift 9/16 - 1
2-47690201-C-T c.1418C>T p.Ser473Leu Missense 9/16 - 2
2-47690203-ATTTGATCCTAATCTCAGTGAATTA-A c.1420_1443del p.Phe474_Leu481del InFrameDeletion 9/16 - 1
2-47690205-TT-T c.1422del p.Phe474Leufs*8 Frameshift 9/16 - 1
2-47690209-C-T c.1426C>T p.Pro476Ser Missense 9/16 - 1
2-47690215-C-T c.1432C>T p.Leu478Phe Missense 9/16 - 1
2-47690219-G-A c.1436G>A p.Ser479Asn Missense 9/16 - 1
2-47690227-A-AA c.1444dup p.Arg482Lysfs*6 Frameshift 9/16 - 1
2-47690227-A-T c.1444A>T p.Arg482* Nonsense 9/16 - 4
2-47690230-G-T c.1447G>T p.Glu483* Nonsense 9/16 - 5
2-47690240-AATGA-A c.1457_1460del p.Asn486Thrfs*10 Frameshift 9/16 - 6
2-47690240-AA-A c.1457del p.Asn486Metfs*11 Frameshift 9/16 - 2
2-47690244-C-G c.1461C>G p.Asp487Glu Missense 9/16 - 3
2-47690257-A-G c.1474A>G p.Met492Val Missense 9/16 - 1
2-47690260-C-T c.1477C>T p.Gln493* Nonsense 9/16 - 1
2-47690263-T-C c.1480T>C p.Ser494Pro Missense 9/16 - 1
2-47690264-C-G c.1481C>G p.Ser494* Nonsense 9/16 - 2
2-47690277-T-TT c.1494dup p.Ala499Cysfs*14 Frameshift 9/16 - 1
2-47690280-CA-C c.1497del p.Ala500Profs*26 Frameshift 9/16 - 1
2-47690291-T-C c.1508T>C p.Leu503Pro Missense 9/16 - 1
2-47690292-T-TTA c.1509_1510insTA p.Gly504* SpliceDonorInsertion 9/16 - 1
2-47690404-T-C c.1510+111T>C - IntronicSNV - 9/15 1
2-47690408-A-G c.1510+115A>G - IntronicSNV - 9/15 1
2-47690411-T-C c.1510+118T>C - IntronicSNV - 9/15 3
2-47690411-T-A c.1510+118T>A - IntronicSNV - 9/15 2
2-47692281-C-T c.1511-1516C>T - IntronicSNV - 9/15 4
2-47693706-G-T c.1511-91G>T - IntronicSNV - 9/15 7
2-47693788-A-G c.1511-9A>G - IntronicSNV - 9/15 1
2-47693788-A-T c.1511-9A>T - IntronicSNV - 9/15 9
2-47693795-A-G c.1511-2A>G - IntronicSNV - 9/15 3
2-47693796-G-A c.1511-1G>A - IntronicSNV - 9/15 1
2-47693796-G-T c.1511-1G>T - IntronicSNV - 9/15 1
2-47693802-G-T c.1516G>T p.Asp506Tyr Missense 10/16 - 3
2-47693806-CC-C c.1520del p.Pro507Leufs*19 Frameshift 10/16 - 1
2-47693814-C-T c.1528C>T p.Gln510* Nonsense 10/16 - 1
2-47693819-T-TT c.1533dup p.Lys512* Nonsense 10/16 - 1
2-47693833-AG-A c.1547del p.Ser516Metfs*10 Frameshift 10/16 - 1
2-47693836-C-T c.1550C>T p.Ala517Val Missense 10/16 - 1
2-47693838-C-T c.1552C>T p.Gln518* Nonsense 10/16 - 1
2-47693852-C-G c.1566C>G p.Tyr522* Nonsense 10/16 - 1
2-47693856-C-T c.1570C>T p.Arg524Cys Missense 10/16 - 1
2-47693857-G-C c.1571G>C p.Arg524Pro Missense 10/16 - 5
2-47693857-G-A c.1571G>A p.Arg524His Missense 10/16 - 2
2-47693857-G-T c.1571G>T p.Arg524Leu Missense 10/16 - 2
2-47693862-AA-A c.1576del p.Thr526Profs*17 Frameshift 10/16 - 1
2-47693862-A-AA c.1576dup p.Thr526Asnfs*3 Frameshift 10/16 - 1
2-47693862-ACC-TAA c.1576_1578delinsTAA p.Thr526* Nonsense 10/16 - 1
2-47693868-A-T c.1582A>T p.Lys528* Nonsense 10/16 - 1
2-47693873-AA-A c.1587del p.Glu530Lysfs*13 Frameshift 10/16 - 1
2-47693879-AAGTCCTTCGTAACAATAAAAA-A c.1593_1613del p.Lys531_Lys537del InFrameDeletion 10/16 - 1
2-47693880-G-GG c.1594dup p.Val532Glyfs*4 Frameshift 10/16 - 1
2-47693883-C-G c.1597C>G p.Leu533Val Missense 10/16 - 1
2-47693886-TCG-T c.1600_1601del p.Arg534* Frameshift 10/16 - 1
2-47693886-TC-T c.1600del p.Arg534Valfs*9 Frameshift 10/16 - 1
2-47693887-G-T c.1601G>T p.Arg534Leu Missense 10/16 - 1
2-47693887-G-C c.1601G>C p.Arg534Pro Missense 10/16 - 1
2-47693887-G-A c.1601G>A p.Arg534His Missense 10/16 - 2
2-47693892-AA-GC c.1606_1607delinsGC p.Asn536Ala Missense 10/16 - 1
2-47693893-A-G c.1607A>G p.Asn536Ser Missense 10/16 - 1
2-47693895-A-T c.1609A>T p.Lys537* Nonsense 10/16 - 1
2-47693897-AAAA-A c.1611_1613del p.Lys537del InFrameDeletion 10/16 - 1
2-47693899-AA-A c.1613del p.Asn538Thrfs*5 Frameshift 10/16 - 1
2-47693904-A-G c.1618A>G p.Ser540Gly Missense 10/16 - 1
2-47693913-G-A c.1627G>A p.Asp543Asn Missense 10/16 - 1
2-47693919-C-T c.1633C>T p.Gln545* Nonsense 10/16 - 2
2-47693922-A-G c.1636A>G p.Lys546Glu Missense 10/16 - 1
2-47693923-A-AA c.1637dup p.Asn547Glufs*4 Frameshift 10/16 - 1
2-47693926-A-G c.1640A>G p.Asn547Ser Missense 10/16 - 1
2-47693929-G-A c.1643G>A p.Gly548Asp Missense 10/16 - 1
2-47693940-A-C c.1654A>C p.Thr552Pro Missense 10/16 - 1
2-47693945-C-A c.1659C>A p.Asn553Lys Missense 10/16 - 1
2-47693946-A-G c.1660A>G p.Ser554Gly Missense 10/16 - 4
2-47693946-A-T c.1660A>T p.Ser554Cys Missense 10/16 - 2
2-47693947-G-A c.1661G>A p.Ser554Asn Missense 10/16 - 3
2-47693947-G-C c.1661G>C p.Ser554Thr Missense 10/16 - 1
2-47693948-G-A c.1661+1G>A - IntronicSNV - 10/15 4
2-47693948-G-T c.1661+1G>T - IntronicSNV - 10/15 1
2-47693949-T-G c.1661+2T>G - IntronicSNV - 10/15 1
2-47693949-T-C c.1661+2T>C - IntronicSNV - 10/15 1
2-47693959-G-A c.1661+12G>A - IntronicSNV - 10/15 11
2-47693959-G-T c.1661+12G>T - IntronicSNV - 10/15 5
2-47694037-T-C c.1661+90T>C - IntronicSNV - 10/15 2
2-47698086-T-C c.1662-18T>C - IntronicSNV - 10/15 1
2-47698095-G-A c.1662-9G>A - IntronicSNV - 10/15 1
2-47698102-A-C c.1662-2A>C - IntronicSNV - 10/15 1
2-47698102-A-G c.1662-2A>G - IntronicSNV - 10/15 1
2-47693946-A-C c.1660A>C p.Ser554Arg Missense 10/16 - 1
2-47698104-C-G c.1662C>G p.Ser554Arg Missense 11/16 - 1
2-47698104-C-A c.1662C>A p.Ser554Arg Missense 11/16 - 1
2-47698107-AA-A c.1665del p.Lys555Asnfs*2 Frameshift 11/16 - 1
2-47698108-T-C c.1666T>C p.Leu556Leu Synonymous 11/16 - 3
2-47698110-G-A c.1668G>A p.Leu556Leu Synonymous 11/16 - 1
2-47698109-T-C c.1667T>C p.Leu556Ser Missense 11/16 - 3
2-47698109-T-TA c.1667_1668insA p.Thr557Aspfs*5 Frameshift 11/16 - 2
2-47698109-TT-T c.1667del p.Leu556* Frameshift 11/16 - 4
2-47698110-TGACTT-T c.1668_1672del p.Leu556Phefs*4 Frameshift 11/16 - 1
2-47698111-A-C c.1669A>C p.Thr557Pro Missense 11/16 - 1
2-47698119-TAAAT-T c.1677_1680del p.Asn560Lysfs*29 Frameshift 11/16 - 1
2-47698126-G-T c.1684G>T p.Glu562* Nonsense 11/16 - 1
2-47698129-TA-GC c.1687_1688delinsGC p.Tyr563Ala Missense 11/16 - 1
2-47698130-A-C c.1688A>C p.Tyr563Ser Missense 11/16 - 2
2-47698132-A-G c.1690A>G p.Thr564Ala Missense 11/16 - 3
2-47698138-A-C c.1696A>C p.Asn566His Missense 11/16 - 1
2-47698139-AA-A c.1697del p.Asn566Ilefs*24 Frameshift 11/16 - 2
2-47698146-A-AT c.1704_1705insT p.Glu569* Nonsense 11/16 - 1
2-47698147-AGA-A c.1705_1706del p.Glu569Ilefs*2 Frameshift 11/16 - 9
2-47698148-A-T c.1706A>T p.Glu569Val Missense 11/16 - 1
2-47698149-AA-A c.1707del p.Glu569Aspfs*21 Frameshift 11/16 - 1
2-47698152-T-A c.1710T>A p.Tyr570* Nonsense 11/16 - 1
2-47698153-G-T c.1711G>T p.Glu571* Nonsense 11/16 - 1
2-47698157-GAAG-G c.1715_1717del p.Glu572del InFrameDeletion 11/16 - 1
2-47698162-CC-C c.1720del p.Gln574Argfs*16 Frameshift 11/16 - 1
2-47698165-GG-G c.1723del p.Asp575Metfs*15 Frameshift 11/16 - 1
2-47698170-CC-C c.1728del p.Ile577Leufs*13 Frameshift 11/16 - 1
2-47698172-T-C c.1730T>C p.Ile577Thr Missense 11/16 - 2
2-47698180-G-T c.1738G>T p.Glu580* Nonsense 11/16 - 6
2-47698183-A-AA c.1741dup p.Ile581Asnfs*17 Frameshift 11/16 - 1
2-47698184-T-G c.1742T>G p.Ile581Ser Missense 11/16 - 1
2-47698186-TG-T c.1744del p.Val582Serfs*8 Frameshift 11/16 - 1
2-47698190-A-G c.1748A>G p.Asn583Ser Missense 11/16 - 1
2-47698199-C-G c.1757C>G p.Ser586* Nonsense 11/16 - 1
2-47698200-A-AA c.1758dup p.Gly587Argfs*11 SpliceDonorInsertion 11/16 - 1
2-47698201-G-C c.1759G>C p.Gly587Arg Missense 11/16 - 4
2-47698201-G-T c.1759G>T p.Gly587Cys Missense 11/16 - 1
2-47698202-G-T c.1759+1G>T - IntronicSNV - 11/15 1
2-47698203-T-A c.1759+2T>A - IntronicSNV - 11/15 1
2-47698308-A-G c.1759+107A>G - IntronicSNV - 11/15 3
2-47698308-A-T c.1759+107A>T - IntronicSNV - 11/15 1
2-47698384-G-A c.1759+183G>A - IntronicSNV - 11/15 2
2-47698702-A-G c.1759+501A>G - IntronicSNV - 11/15 1
2-47700957-C-T c.1760-1207C>T - IntronicSNV - 11/15 2
2-47702163-G-A c.1760-1G>A - IntronicSNV - 11/15 1
2-47702168-T-A c.1764T>A p.Tyr588* Nonsense 12/16 - 1
2-47702178-A-G c.1774A>G p.Met592Val Missense 12/16 - 2
2-47702179-T-A c.1775T>A p.Met592Lys Missense 12/16 - 1
2-47702181-C-T c.1777C>T p.Gln593* Nonsense 12/16 - 3
2-47702188-T-C c.1784T>C p.Leu595Pro Missense 12/16 - 1
2-47702190-CAAT-C c.1786_1788del p.Asn596del InFrameDeletion 12/16 - 16
2-47702191-AA-A c.1787del p.Asn596Metfs*4 Frameshift 12/16 - 1
2-47702191-A-G c.1787A>G p.Asn596Ser Missense 12/16 - 4
2-47702194-A-C c.1790A>C p.Asp597Ala Missense 12/16 - 1
2-47702200-T-C c.1796T>C p.Leu599Ser Missense 12/16 - 1
2-47702202-G-A c.1798G>A p.Ala600Thr Missense 12/16 - 1
2-47702203-C-T c.1799C>T p.Ala600Val Missense 12/16 - 3
2-47702205-C-T c.1801C>T p.Gln601* Nonsense 12/16 - 1
2-47702209-T-C c.1805T>C p.Leu602Pro Missense 12/16 - 1
2-47702211-G-T c.1807G>T p.Asp603Tyr Missense 12/16 - 2
2-47702211-G-A c.1807G>A p.Asp603Asn Missense 12/16 - 5
2-47702212-A-G c.1808A>G p.Asp603Gly Missense 12/16 - 2
2-47702217-TG-T c.1813del p.Val605Leufs*30 Frameshift 12/16 - 1
2-47702220-G-A c.1816G>A p.Val606Ile Missense 12/16 - 1
2-47702230-C-T c.1826C>T p.Ala609Val Missense 12/16 - 1
2-47702236-GT-G c.1832del p.Val611Glyfs*24 Frameshift 12/16 - 1
2-47702236-T-A c.1832T>A p.Val611Glu Missense 12/16 - 1
2-47702251-C-G c.1847C>G p.Pro616Arg Missense 12/16 - 3
2-47702253-G-T c.1849G>T p.Val617Phe Missense 12/16 - 1
2-47702256-TCCA-T c.1852_1854del p.Pro618del InFrameDeletion 12/16 - 1
2-47702256-CC-TA c.1852_1853delinsTA p.Pro618* Nonsense 12/16 - 1
2-47702257-CC-C c.1853del p.Pro618Hisfs*17 Frameshift 12/16 - 1
2-47702261-T-G c.1857T>G p.Tyr619* Nonsense 12/16 - 1
2-47702265-C-G c.1861C>G p.Arg621Gly Missense 12/16 - 1
2-47702265-C-T c.1861C>T p.Arg621* Nonsense 12/16 - 20
2-47702266-G-A c.1862G>A p.Arg621Gln Missense 12/16 - 2
2-47702268-C-A c.1864C>A p.Pro622Thr Missense 12/16 - 6
2-47702269-C-G c.1865C>G p.Pro622Arg Missense 12/16 - 1
2-47702269-C-A c.1865C>A p.Pro622Gln Missense 12/16 - 1
2-47702269-C-T c.1865C>T p.Pro622Leu Missense 12/16 - 18
2-47702290-A-G c.1886A>G p.Gln629Arg Missense 12/16 - 9
2-47702293-GGAAG-G c.1889_1892del p.Gly630Glufs*4 Frameshift 12/16 - 1
2-47702295-A-AA c.1891dup p.Arg631Lysfs*13 Frameshift 12/16 - 1
2-47702297-A-T c.1893A>T p.Arg631Ser Missense 12/16 - 1
2-47702297-A-C c.1893A>C p.Arg631Ser Missense 12/16 - 1
2-47702298-AA-A c.1894del p.Ile632Leufs*3 Frameshift 12/16 - 1
2-47702305-T-A c.1901T>A p.Leu634* Nonsense 12/16 - 1
2-47702305-T-G c.1901T>G p.Leu634* Nonsense 12/16 - 1
2-47702310-G-C c.1906G>C p.Ala636Pro Missense 12/16 - 41
2-47702310-G-A c.1906G>A p.Ala636Thr Missense 12/16 - 1
2-47702315-CC-C c.1911del p.Arg638Glyfs*47 Frameshift 12/16 - 4
2-47702316-A-T c.1912A>T p.Arg638Trp Missense 12/16 - 1
2-47702318-G-C c.1914G>C p.Arg638Ser Missense 12/16 - 1
2-47702318-G-T c.1914G>T p.Arg638Ser Missense 12/16 - 1
2-47702319-C-T c.1915C>T p.His639Tyr Missense 12/16 - 5
2-47702320-A-G c.1916A>G p.His639Arg Missense 12/16 - 1
2-47702320-A-T c.1916A>T p.His639Leu Missense 12/16 - 1
2-47702321-T-A c.1917T>A p.His639Gln Missense 12/16 - 3
2-47702322-G-T c.1918G>T p.Ala640Ser Missense 12/16 - 1
2-47702328-G-A c.1924G>A p.Val642Ile Missense 12/16 - 1
2-47702331-G-A c.1927G>A p.Glu643Lys Missense 12/16 - 1
2-47702341-A-G c.1937A>G p.Asp646Gly Missense 12/16 - 1
2-47702343-G-A c.1939G>A p.Glu647Lys Missense 12/16 - 2
2-47702349-GCA-TTT c.1945_1947delinsTTT p.Ala649Phe Missense 12/16 - 1
2-47702353-T-C c.1949T>C p.Phe650Ser Missense 12/16 - 1
2-47702359-C-A c.1955C>A p.Pro652His Missense 12/16 - 2
2-47702367-G-A c.1963G>A p.Val655Ile Missense 12/16 - 1
2-47702370-T-C c.1966T>C p.Tyr656His Missense 12/16 - 1
2-47702371-A-G c.1967A>G p.Tyr656Cys Missense 12/16 - 1
2-47702372-C-G c.1968C>G p.Tyr656* Nonsense 12/16 - 3
2-47702377-A-G c.1973A>G p.Glu658Gly Missense 12/16 - 1
2-47702383-A-G c.1979A>G p.Asp660Gly Missense 12/16 - 2
2-47702387-AA-A c.1983del p.Lys661Asnfs*24 Frameshift 12/16 - 1
2-47702388-C-T c.1984C>T p.Gln662* Nonsense 12/16 - 1
2-47702390-AG-A c.1986del p.Met663Cysfs*22 Frameshift 12/16 - 1
2-47702397-CCAC-C c.1993_1995del p.His665del InFrameDeletion 12/16 - 1
2-47702405-TT-T c.2001del p.Thr668Leufs*17 Frameshift 12/16 - 1
2-47702409-G-C c.2005G>C p.Gly669Arg Missense 12/16 - 1
2-47702410-G-C c.2005+1G>C - IntronicSNV - 12/15 1
2-47702412-TAAAAAACCTGGT-T c.2005+3_2005+14del - IntronicDeletion - 12/15 1
2-47702417-A-AA c.2005+8dup - IntronicInsertion - 12/15 1
2-47702470-TT-T c.2005+61del - IntronicDeletion - 12/15 1
2-47703241-A-G c.2006-265A>G - IntronicSNV - 12/15 4
2-47703241-A-C c.2006-265A>C - IntronicSNV - 12/15 3
2-47703290-G-A c.2006-216G>A - IntronicSNV - 12/15 2
2-47703470-TTAA-TTAATTAA c.2006-36_2006-33dup - IntronicInsertion - 12/15 1
2-47703500-T-C c.2006-6T>C - IntronicSNV - 12/15 25
2-47703500-T-A c.2006-6T>A - IntronicSNV - 12/15 19
2-47703500-T-G c.2006-6T>G - IntronicSNV - 12/15 18
2-47703502-G-A c.2006-4G>A - IntronicSNV - 12/15 1
2-47703506-G-T c.2006G>T p.Gly669Val Missense 13/16 - 3
2-47703506-G-A c.2006G>A p.Gly669Asp Missense 13/16 - 1
2-47703507-C-CA c.2007_2008insA p.Pro670Thrfs*6 SpliceAcceptorInsertion 13/16 - 1
2-47703507-C-CG c.2007_2008insG p.Pro670Alafs*6 SpliceAcceptorInsertion 13/16 - 1
2-47703507-C-CT c.2007_2008insT p.Pro670Serfs*6 SpliceAcceptorInsertion 13/16 - 1
2-47703509-C-T c.2009C>T p.Pro670Leu Missense 13/16 - 1
2-47703511-A-T c.2011A>T p.Asn671Tyr Missense 13/16 - 1
2-47703512-A-T c.2012A>T p.Asn671Ile Missense 13/16 - 1
2-47703513-T-A c.2013T>A p.Asn671Lys Missense 13/16 - 2
2-47703518-G-A c.2018G>A p.Gly673Glu Missense 13/16 - 1
2-47703520-G-C c.2020G>C p.Gly674Arg Missense 13/16 - 3
2-47703520-G-A c.2020G>A p.Gly674Ser Missense 13/16 - 1
2-47703521-G-C c.2021G>C p.Gly674Ala Missense 13/16 - 15
2-47703521-G-A c.2021G>A p.Gly674Asp Missense 13/16 - 5
2-47703523-AA-GC c.2023_2024delinsGC p.Lys675Ala Missense 13/16 - 1
2-47703524-A-G c.2024A>G p.Lys675Arg Missense 13/16 - 2
2-47703526-T-C c.2026T>C p.Ser676Pro Missense 13/16 - 1
2-47703527-C-T c.2027C>T p.Ser676Leu Missense 13/16 - 1
2-47703530-C-G c.2030C>G p.Thr677Arg Missense 13/16 - 2
2-47703534-T-G c.2034T>G p.Tyr678* Nonsense 13/16 - 1
2-47703534-T-A c.2034T>A p.Tyr678* Nonsense 13/16 - 1
2-47703535-TAT-T c.2035_2036del p.Ile679Serfs*19 Frameshift 13/16 - 1
2-47703536-T-C c.2036T>C p.Ile679Thr Missense 13/16 - 2
2-47703538-C-T c.2038C>T p.Arg680* Nonsense 13/16 - 18
2-47703539-G-A c.2039G>A p.Arg680Gln Missense 13/16 - 1
2-47703541-C-T c.2041C>T p.Gln681* Nonsense 13/16 - 2
2-47703545-C-G c.2045C>G p.Thr682Ser Missense 13/16 - 1
2-47703546-CTG-C c.2046_2047del p.Val684Aspfs*14 Frameshift 13/16 - 3
2-47703547-G-A c.2047G>A p.Gly683Arg Missense 13/16 - 6
2-47703548-GG-AC c.2048_2049delinsAC p.Gly683Asp Missense 13/16 - 1
2-47703548-G-A c.2048G>A p.Gly683Glu Missense 13/16 - 2
2-47703548-G-C c.2048G>C p.Gly683Ala Missense 13/16 - 1
2-47703550-GT-TA c.2050_2051delinsTA p.Val684* Nonsense 13/16 - 1
2-47703558-A-AA c.2058dup p.Leu687Thrfs*12 Frameshift 13/16 - 1
2-47703562-A-G c.2062A>G p.Met688Val Missense 13/16 - 2
2-47703563-T-G c.2063T>G p.Met688Arg Missense 13/16 - 4
2-47703563-T-A c.2063T>A p.Met688Lys Missense 13/16 - 1
2-47703564-G-A c.2064G>A p.Met688Ile Missense 13/16 - 6
2-47703568-C-G c.2068C>G p.Gln690Glu Missense 13/16 - 1
2-47703572-T-C c.2072T>C p.Ile691Thr Missense 13/16 - 1
2-47703574-G-T c.2074G>T p.Gly692Trp Missense 13/16 - 1
2-47703574-G-A c.2074G>A p.Gly692Arg Missense 13/16 - 2
2-47703574-G-C c.2074G>C p.Gly692Arg Missense 13/16 - 2
2-47703575-G-C c.2075G>C p.Gly692Ala Missense 13/16 - 1
2-47703575-G-T c.2075G>T p.Gly692Val Missense 13/16 - 4
2-47703577-T-C c.2077T>C p.Cys693Arg Missense 13/16 - 1
2-47703578-G-A c.2078G>A p.Cys693Tyr Missense 13/16 - 3
2-47703582-TT-T c.2082del p.Phe694Leufs*16 Frameshift 13/16 - 1
2-47703584-T-A c.2084T>A p.Val695Glu Missense 13/16 - 1
2-47703586-CCA-TTT c.2086_2088delinsTTT p.Pro696Phe Missense 13/16 - 1
2-47703587-C-T c.2087C>T p.Pro696Leu Missense 13/16 - 4
2-47703589-T-C c.2089T>C p.Cys697Arg Missense 13/16 - 5
2-47703590-G-A c.2090G>A p.Cys697Tyr Missense 13/16 - 3
2-47703590-G-T c.2090G>T p.Cys697Phe Missense 13/16 - 5
2-47703591-T-A c.2091T>A p.Cys697* Nonsense 13/16 - 1
2-47703592-G-T c.2092G>T p.Glu698* Nonsense 13/16 - 1
2-47703595-T-C c.2095T>C p.Ser699Pro Missense 13/16 - 1
2-47703599-C-A c.2099C>A p.Ala700Glu Missense 13/16 - 1
2-47703601-G-T c.2101G>T p.Glu701* Nonsense 13/16 - 1
2-47703601-G-A c.2101G>A p.Glu701Lys Missense 13/16 - 1
2-47703605-T-G c.2105T>G p.Val702Gly Missense 13/16 - 1
2-47703605-T-A c.2105T>A p.Val702Glu Missense 13/16 - 1
2-47703608-C-A c.2108C>A p.Ser703Tyr Missense 13/16 - 3
2-47703610-A-G c.2110A>G p.Ile704Val Missense 13/16 - 1
2-47703611-T-C c.2111T>C p.Ile704Thr Missense 13/16 - 1
2-47703613-TG-T c.2113del p.Val705Trpfs*5 Frameshift 13/16 - 1
2-47703620-G-A c.2120G>A p.Cys707Tyr Missense 13/16 - 1
2-47703620-TGCA-T c.2120_2122del p.Cys707_Ile708delinsPhe MultiAAMissense 13/16 - 2
2-47703628-G-T c.2128G>T p.Ala710Ser Missense 13/16 - 1
2-47703631-C-T c.2131C>T p.Arg711* Nonsense 13/16 - 23
2-47703632-G-C c.2132G>C p.Arg711Pro Missense 13/16 - 1
2-47703633-A-ATA c.2133_2134insTA p.Val712* Nonsense 13/16 - 1
2-47703634-AG-A c.2134del p.Val712* Frameshift 13/16 - 1
2-47703635-T-TT c.2135dup p.Gly713Argfs*4 Frameshift 13/16 - 1
2-47703639-G-C c.2139G>C p.Gly713Gly Synonymous 13/16 - 1
2-47703639-G-T c.2139G>T p.Gly713Gly Synonymous 13/16 - 1
2-47703641-C-T c.2141C>T p.Ala714Val Missense 13/16 - 3
2-47703645-GT-G c.2145del p.Asp716Thrfs*4 Frameshift 13/16 - 3
2-47703652-C-T c.2152C>T p.Gln718* Nonsense 13/16 - 7
2-47703654-A-G c.2154A>G p.Gln718Gln Synonymous 13/16 - 1
2-47703657-G-C c.2157G>C p.Leu719Phe Missense 13/16 - 1
2-47703657-G-T c.2157G>T p.Leu719Phe Missense 13/16 - 1
2-47703661-G-T c.2161G>T p.Gly721* Nonsense 13/16 - 1
2-47703664-G-A c.2164G>A p.Val722Ile Missense 13/16 - 3
2-47703664-G-T c.2164G>T p.Val722Phe Missense 13/16 - 1
2-47703668-C-T c.2168C>T p.Ser723Phe Missense 13/16 - 3
2-47703678-G-C c.2178G>C p.Met726Ile Missense 13/16 - 1
2-47703678-G-GA c.2178_2179insA p.Ala727Serfs*2 Frameshift 13/16 - 1
2-47703679-G-T c.2179G>T p.Ala727Ser Missense 13/16 - 1
2-47703685-A-G c.2185A>G p.Met729Val Missense 13/16 - 1
2-47703685-AA-A c.2185del p.Met729Cysfs*16 Frameshift 13/16 - 1
2-47703687-G-T c.2187G>T p.Met729Ile Missense 13/16 - 3
2-47703695-C-T c.2195C>T p.Thr732Ile Missense 13/16 - 1
2-47703696-T-C c.2196T>C p.Thr732Thr Synonymous 13/16 - 1
2-47703697-G-A c.2197G>A p.Ala733Thr Missense 13/16 - 2
2-47703698-C-A c.2198C>A p.Ala733Asp Missense 13/16 - 1
2-47703701-C-A c.2201C>A p.Ser734Tyr Missense 13/16 - 1
2-47703701-C-T c.2201C>T p.Ser734Phe Missense 13/16 - 1
2-47703703-A-G c.2203A>G p.Ile735Val Missense 13/16 - 3
2-47703705-C-A c.2205C>A p.Ile735Ile Synonymous 13/16 - 1
2-47703705-C-T c.2205C>T p.Ile735Ile Synonymous 13/16 - 1
2-47703711-G-A c.2210+1G>A - IntronicSNV - 13/15 2
2-47703711-G-C c.2210+1G>C - IntronicSNV - 13/15 1
2-47703717-G-T c.2210+7G>T - IntronicSNV - 13/15 2
2-47703885-G-A c.2210+175G>A - IntronicSNV - 13/15 7
2-47703984-T-G c.2210+274T>G - IntronicSNV - 13/15 9
2-47704027-G-C c.2210+317G>C - IntronicSNV - 13/15 6
2-47704027-G-A c.2210+317G>A - IntronicSNV - 13/15 6
2-47705409-A-G c.2211-2A>G - IntronicSNV - 13/15 1
2-47705409-A-C c.2211-2A>C - IntronicSNV - 13/15 2
2-47705427-T-C c.2227T>C p.Ser743Pro Missense 14/16 - 1
2-47705428-C-A c.2228C>A p.Ser743* Nonsense 14/16 - 4
2-47705428-C-G c.2228C>G p.Ser743* Nonsense 14/16 - 2
2-47705428-C-T c.2228C>T p.Ser743Leu Missense 14/16 - 2
2-47705431-T-G c.2231T>G p.Leu744* Nonsense 14/16 - 1
2-47705434-T-G c.2234T>G p.Ile745Arg Missense 14/16 - 1
2-47705435-TAAT-T c.2235_2237del p.Ile747del InFrameDeletion 14/16 - 1
2-47705440-ATA-A c.2240_2241del p.Ile747Argfs*2 Frameshift 14/16 - 1
2-47705445-G-A c.2245G>A p.Glu749Lys Missense 14/16 - 3
2-47705445-G-T c.2245G>T p.Glu749* Nonsense 14/16 - 1
2-47705446-A-G c.2246A>G p.Glu749Gly Missense 14/16 - 1
2-47705450-G-C c.2250G>C p.Leu750Phe Missense 14/16 - 1
2-47705451-G-A c.2251G>A p.Gly751Arg Missense 14/16 - 4
2-47705460-A-G c.2260A>G p.Thr754Ala Missense 14/16 - 1
2-47705460-A-T c.2260A>T p.Thr754Ser Missense 14/16 - 1
2-47705461-C-G c.2261C>G p.Thr754Ser Missense 14/16 - 1
2-47705472-G-A c.2272G>A p.Asp758Asn Missense 14/16 - 1
2-47705475-G-A c.2275G>A p.Gly759Arg Missense 14/16 - 1
2-47705475-G-C c.2275G>C p.Gly759Arg Missense 14/16 - 1
2-47705475-G-T c.2275G>T p.Gly759* Nonsense 14/16 - 1
2-47705476-G-A c.2276G>A p.Gly759Glu Missense 14/16 - 3
2-47705481-G-A c.2281G>A p.Gly761Arg Missense 14/16 - 1
2-47705487-G-C c.2287G>C p.Ala763Pro Missense 14/16 - 1
2-47705491-G-A c.2291G>A p.Trp764* Nonsense 14/16 - 1
2-47705492-G-C c.2292G>C p.Trp764Cys Missense 14/16 - 1
2-47705492-G-T c.2292G>T p.Trp764Cys Missense 14/16 - 1
2-47705494-GC-G c.2294del p.Ala765Valfs*47 Frameshift 14/16 - 1
2-47705496-A-G c.2296A>G p.Ile766Val Missense 14/16 - 1
2-47705497-AT-A c.2297del p.Ile766Asnfs*46 Frameshift 14/16 - 1
2-47705500-CAGA-ATATATAT c.2300_2303delinsATATATAT p.Ser767Tyrfs*21 Frameshift 14/16 - 1
2-47705503-A-C c.2303A>C p.Glu768Ala Missense 14/16 - 1
2-47705505-AT-A c.2305del p.Tyr769Thrfs*43 Frameshift 14/16 - 1
2-47705510-TT-T c.2310del p.Ile770Metfs*42 Frameshift 14/16 - 1
2-47705514-A-T c.2314A>T p.Thr772Ser Missense 14/16 - 1
2-47705520-A-G c.2320A>G p.Ile774Val Missense 14/16 - 2
2-47705534-C-A c.2334C>A p.Cys778* Nonsense 14/16 - 1
2-47705544-A-G c.2344A>G p.Thr782Ala Missense 14/16 - 1
2-47705547-CC-C c.2347del p.His783Ilefs*29 Frameshift 14/16 - 1
2-47705552-TT-T c.2352del p.His785Metfs*27 Frameshift 14/16 - 1
2-47705554-A-C c.2354A>C p.His785Pro Missense 14/16 - 1
2-47705562-A-AA c.2362dup p.Thr788Asnfs*11 Frameshift 14/16 - 2
2-47705564-T-TTACA c.2364_2365insTACA p.Ala789Tyrfs*11 Frameshift 14/16 - 1
2-47705566-GCC-G c.2366_2367del p.Ala789Valfs*9 Frameshift 14/16 - 1
2-47705570-TGGCCAA-T c.2370_2375del p.Leu790_Asn792delinsPhe MultiAAMissense 14/16 - 1
2-47705572-C-A c.2372C>A p.Ala791Asp Missense 14/16 - 1
2-47705588-T-G c.2388T>G p.Thr796Thr Synonymous 14/16 - 1
2-47705588-T-A c.2388T>A p.Thr796Thr Synonymous 14/16 - 1
2-47705588-T-C c.2388T>C p.Thr796Thr Synonymous 14/16 - 1
2-47705588-CT-C c.2388del p.Val797Leufs*15 Frameshift 14/16 - 2
2-47705599-T-C c.2399T>C p.Leu800Pro Missense 14/16 - 1
2-47705605-T-C c.2405T>C p.Val802Ala Missense 14/16 - 1
2-47705622-G-T c.2422G>T p.Glu808* Nonsense 14/16 - 4
2-47705625-G-A c.2425G>A p.Glu809Lys Missense 14/16 - 2
2-47705637-AT-TG c.2437_2438delinsTG p.Met813Trp Missense 14/16 - 1
2-47705639-G-A c.2439G>A p.Met813Ile Missense 14/16 - 1
2-47705645-T-A c.2445T>A p.Tyr815* Nonsense 14/16 - 1
2-47705646-C-T c.2446C>T p.Gln816* Nonsense 14/16 - 1
2-47705655-A-T c.2455A>T p.Lys819* Nonsense 14/16 - 1
2-47705660-GT-G c.2458+2del - IntronicDeletion - 14/15 1
2-47705664-T-C c.2458+6T>C - IntronicSNV - 14/15 1
2-47707001-A-G c.2459-834A>G - IntronicSNV - 14/15 1
2-47707817-TT-T c.2459-18del - IntronicDeletion - 14/15 1
2-47707833-A-C c.2459-2A>C - IntronicSNV - 14/15 1
2-47707841-G-A c.2465G>A p.Cys822Tyr Missense 15/16 - 1
2-47707846-C-T c.2470C>T p.Gln824* Nonsense 15/16 - 2
2-47707855-G-A c.2479G>A p.Gly827Arg Missense 15/16 - 1
2-47707873-C-G c.2497C>G p.Leu833Val Missense 15/16 - 1
2-47707876-G-A c.2500G>A p.Ala834Thr Missense 15/16 - 6
2-47707878-CTAATTTC-C c.2502_2508del p.Asn835Leufs*4 Frameshift 15/16 - 2
2-47707879-A-C c.2503A>C p.Asn835His Missense 15/16 - 2
2-47707892-A-G c.2516A>G p.His839Arg Missense 15/16 - 3
2-47707895-GTAATAGAGTGTG-G c.2519_2530del p.Val840_Cys843del InFrameDeletion 15/16 - 1
2-47707901-GAG-G c.2525_2526del p.Glu842Valfs*3 Frameshift 15/16 - 4
2-47707903-GT-G c.2527del p.Cys843Valfs*49 Frameshift 15/16 - 1
2-47707904-TG-T c.2528del p.Cys843Leufs*49 Frameshift 15/16 - 1
2-47707909-A-C c.2533A>C p.Lys845Gln Missense 15/16 - 1
2-47707909-A-G c.2533A>G p.Lys845Glu Missense 15/16 - 3
2-47707910-A-G c.2534A>G p.Lys845Arg Missense 15/16 - 1
2-47707912-C-T c.2536C>T p.Gln846* Nonsense 15/16 - 1
2-47707915-A-C c.2539A>C p.Lys847Gln Missense 15/16 - 1
2-47707916-A-G c.2540A>G p.Lys847Arg Missense 15/16 - 1
2-47707918-G-T c.2542G>T p.Ala848Ser Missense 15/16 - 2
2-47707928-T-C c.2552T>C p.Leu851Pro Missense 15/16 - 1
2-47707930-G-T c.2554G>T p.Glu852* Nonsense 15/16 - 1
2-47707933-G-T c.2557G>T p.Glu853* Nonsense 15/16 - 1
2-47707934-A-G c.2558A>G p.Glu853Gly Missense 15/16 - 1
2-47707939-C-T c.2563C>T p.Gln855* Nonsense 15/16 - 1
2-47707940-A-C c.2564A>C p.Gln855Pro Missense 15/16 - 1
2-47707951-G-T c.2575G>T p.Glu859* Nonsense 15/16 - 1
2-47707959-A-G c.2583A>G p.Gln861Gln Synonymous 15/16 - 2
2-47707971-TCAT-T c.2595_2597del p.Ile865del InFrameDeletion 15/16 - 1
2-47707982-C-A c.2606C>A p.Ala869Glu Missense 15/16 - 1
2-47707989-G-C c.2613G>C p.Lys871Asn Missense 15/16 - 1
2-47707989-G-T c.2613G>T p.Lys871Asn Missense 15/16 - 1
2-47708010-G-C c.2634G>C p.Glu878Asp Missense 15/16 - 1
2-47708010-G-T c.2634G>T p.Glu878Asp Missense 15/16 - 1
2-47708011-G-T c.2634+1G>T - IntronicSNV - 15/15 2
2-47708011-G-A c.2634+1G>A - IntronicSNV - 15/15 2
2-47709153-G-A c.2635-765G>A - IntronicSNV - 15/15 5
2-47709704-T-C c.2635-214T>C - IntronicSNV - 15/15 5
2-47709894-A-G c.2635-24A>G - IntronicSNV - 15/15 1
2-47709908-T-G c.2635-10T>G - IntronicSNV - 15/15 1
2-47709915-C-G c.2635-3C>G - IntronicSNV - 15/15 1
2-47709916-A-G c.2635-2A>G - IntronicSNV - 15/15 1
2-47709917-G-T c.2635-1G>T - IntronicSNV - 15/15 1
2-47709922-G-A c.2639G>A p.Gly880Asp Missense 16/16 - 1
2-47709930-AA-A c.2647del p.Ile883Leufs*9 Frameshift 16/16 - 1
2-47709932-T-G c.2649T>G p.Ile883Met Missense 16/16 - 1
2-47709934-T-C c.2651T>C p.Ile884Thr Missense 16/16 - 1
2-47709936-C-T c.2653C>T p.Gln885* Nonsense 16/16 - 2
2-47709939-G-T c.2656G>T p.Glu886* Nonsense 16/16 - 2
2-47709940-A-G c.2657A>G p.Glu886Gly Missense 16/16 - 2
2-47709948-TC-GG c.2665_2666delinsGG p.Ser889Gly Missense 16/16 - 1
2-47709957-A-C c.2674A>C p.Lys892Gln Missense 16/16 - 1
2-47709958-A-G c.2675A>G p.Lys892Arg Missense 16/16 - 1
2-47709982-C-G c.2699C>G p.Ser900* Nonsense 16/16 - 1
2-47709982-C-T c.2699C>T p.Ser900Leu Missense 16/16 - 1
2-47709985-A-T c.2702A>T p.Glu901Val Missense 16/16 - 1
2-47709997-C-G c.2714C>G p.Thr905Arg Missense 16/16 - 1
2-47710009-A-T c.2726A>T p.Lys909Ile Missense 16/16 - 2
2-47710011-C-A c.2728C>A p.Gln910Lys Missense 16/16 - 1
2-47710015-T-A c.2732T>A p.Leu911Gln Missense 16/16 - 1
2-47710015-T-G c.2732T>G p.Leu911Arg Missense 16/16 - 5
2-47710021-GC-G c.2738del p.Ala913Valfs*3 Frameshift 16/16 - 1
2-47710037-G-C c.2754G>C p.Lys918Asn Missense 16/16 - 1
2-47710037-G-T c.2754G>T p.Lys918Asn Missense 16/16 - 1
2-47710050-G-A c.2767G>A p.Val923Ile Missense 16/16 - 1
2-47710051-T-A c.2768T>A p.Val923Glu Missense 16/16 - 2
2-47710066-C-A c.2783C>A p.Ser928* Nonsense 16/16 - 1
2-47710068-C-T c.2785C>T p.Arg929* Nonsense 16/16 - 7
2-47710069-G-A c.2786G>A p.Arg929Gln Missense 16/16 - 1
2-47710075-A-C c.2792A>C p.Lys931Thr Missense 16/16 - 2
2-47710085-G-A c.2802G>A p.Thr934Thr Synonymous 16/16 - 1
2-47710229-T-G c.*141T>G - 3-UTRSNV 16/16 - 1