TG thyroglobulin

Canonical transcript: NM_003235

1141 unique variant annotations were identified in 1000 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
8-133879209-T-C c.-37T>C - 5-UTRSNV 1/48 - 1
8-133879234-A-G c.-12A>G - 5-UTRSNV 1/48 - 1
8-133879238-C-G c.-8C>G - 5-UTRSNV 1/48 - 1
8-133879243-A-G c.-3A>G - 5-UTRSNV 1/48 - 2
8-133879246-A-G c.1A>G p.Met1? Missense 1/48 - 4
8-133879246-A-C c.1A>C p.Met1? Missense 1/48 - 1
8-133879248-G-A c.3G>A p.Met1? Missense 1/48 - 1
8-133879255-G-A c.10G>A p.Val4Ile Missense 1/48 - 1
8-133879261-GAG-TTT c.16_18delinsTTT p.Glu6Phe Missense 1/48 - 1
8-133879270-A-G c.25A>G p.Thr9Ala Missense 1/48 - 1
8-133879273-CT-GA c.28_29delinsGA p.Leu10Glu Missense 1/48 - 3
8-133879273-CT-GC c.28_29delinsGC p.Leu10Ala Missense 1/48 - 8
8-133879273-CT-TA c.28_29delinsTA p.Leu10* Nonsense 1/48 - 1
8-133879273-CTG-TGT c.28_30delinsTGT p.Leu10Cys Missense 1/48 - 1
8-133879273-CTG-ATC c.28_30delinsATC p.Leu10Ile Missense 1/48 - 4
8-133879274-T-G c.29T>G p.Leu10Arg Missense 1/48 - 1
8-133879274-T-C c.29T>C p.Leu10Pro Missense 1/48 - 9
8-133879279-GC-CT c.34_35delinsCT p.Ala12Leu Missense 1/48 - 1
8-133879279-GCC-TAA c.34_36delinsTAA p.Ala12* Nonsense 1/48 - 1
8-133879279-GCC-TGG c.34_36delinsTGG p.Ala12Trp Missense 1/48 - 1
8-133879279-G-A c.34G>A p.Ala12Thr Missense 1/48 - 2
8-133879279-GC-TT c.34_35delinsTT p.Ala12Phe Missense 1/48 - 2
8-133879280-C-A c.35C>A p.Ala12Asp Missense 1/48 - 2
8-133879281-C-CGGAGTC c.36_37insGGAGTC p.Ala12_Ser13insGlyVal InFrameInsertion 1/48 - 1
8-133879281-C-A c.36C>A p.Ala12Ala Synonymous 1/48 - 9
8-133879281-C-G c.36C>G p.Ala12Ala Synonymous 1/48 - 10
8-133879281-C-T c.36C>T p.Ala12Ala Synonymous 1/48 - 10
8-133879282-TCC-GAG c.37_39delinsGAG p.Ser13Glu Missense 1/48 - 2
8-133879282-TC-GG c.37_38delinsGG p.Ser13Gly Missense 1/48 - 1
8-133879282-TC-GA c.37_38inv p.Ser13Asp Missense 1/48 - 11
8-133879282-T-G c.37T>G p.Ser13Ala Missense 1/48 - 30
8-133879282-T-A c.37T>A p.Ser13Thr Missense 1/48 - 1
8-133879282-TC-CA c.37_38delinsCA p.Ser13His Missense 1/48 - 1
8-133879283-C-T c.38C>T p.Ser13Phe Missense 1/48 - 1
8-133879283-C-G c.38C>G p.Ser13Cys Missense 1/48 - 8
8-133879284-C-T c.39C>T p.Ser13Ser Synonymous 1/48 - 1
8-133879284-C-G c.39C>G p.Ser13Ser Synonymous 1/48 - 1
8-133879284-C-A c.39C>A p.Ser13Ser Synonymous 1/48 - 1
8-133879284-CC-C c.39del p.Ile14Serfs*30 Frameshift 1/48 - 1
8-133879285-AT-GC c.40_41delinsGC p.Ile14Ala Missense 1/48 - 1
8-133879288-TG-GC c.43_44delinsGC p.Cys15Ala Missense 1/48 - 2
8-133879288-T-A c.43T>A p.Cys15Ser Missense 1/48 - 3
8-133879289-G-C c.44G>C p.Cys15Ser Missense 1/48 - 3
8-133879288-TGC-GAG c.43_45delinsGAG p.Cys15Glu Missense 1/48 - 1
8-133879288-CT-C c.43del p.Cys15Alafs*29 Frameshift 1/48 - 1
8-133879288-TG-AT c.43_44delinsAT p.Cys15Ile Missense 1/48 - 2
8-133879294-GTG-ATC c.49_51delinsATC p.Val17Ile Missense 1/48 - 9
8-133879294-G-T c.49G>T p.Val17Leu Missense 1/48 - 1
8-133879294-G-C c.49G>C p.Val17Leu Missense 1/48 - 1
8-133879297-T-G c.52T>G p.Ser18Ala Missense 1/48 - 16
8-133879297-TC-GA c.52_53inv p.Ser18Glu Missense 1/48 - 1
8-133879297-TCG-GAC c.52_54delinsGAC p.Ser18Asp Missense 1/48 - 3
8-133879298-CG-GT c.53_54delinsGT p.Ser18Cys Missense 1/48 - 3
8-133879300-G-A c.55G>A p.Ala19Thr Missense 1/48 - 1
8-133879300-GC-CT c.55_56delinsCT p.Ala19Leu Missense 1/48 - 1
8-133879301-C-G c.56C>G p.Ala19Gly Missense 1/48 - 11
8-133879302-C-A c.57C>A p.Ala19Ala Synonymous 1/48 - 2
8-133879302-C-T c.57C>T p.Ala19Ala Synonymous 1/48 - 2
8-133879302-C-G c.57C>G p.Ala19Ala Synonymous 1/48 - 2
8-133879309-TTC-GAG c.64_66delinsGAG p.Phe22Glu Missense 1/48 - 3
8-133879309-TT-GA c.64_65delinsGA p.Phe22Asp Missense 1/48 - 1
8-133879310-TC-AA c.65_66delinsAA p.Phe22* Nonsense 1/48 - 1
8-133879312-G-A c.67G>A p.Glu23Lys Missense 1/48 - 13
8-133879313-G-T c.67+1G>T - IntronicSNV - 1/47 1
8-133879315-A-G c.67+3A>G - IntronicSNV - 1/47 1
8-133880212-G-A c.68-148G>A - IntronicSNV - 1/47 1
8-133880360-A-C c.68A>C p.Glu23Ala Missense 2/48 - 1
8-133880362-TA-GC c.70_71delinsGC p.Tyr24Ala Missense 2/48 - 2
8-133880362-TA-GG c.70_71delinsGG p.Tyr24Gly Missense 2/48 - 1
8-133880364-C-T c.72C>T p.Tyr24Tyr Synonymous 2/48 - 1
8-133880367-G-C c.75G>C p.Gln25His Missense 2/48 - 1
8-133880367-G-A c.75G>A p.Gln25Gln Synonymous 2/48 - 1
8-133880367-G-T c.75G>T p.Gln25His Missense 2/48 - 1
8-133880368-GTG-ATC c.76_78delinsATC p.Val26Ile Missense 2/48 - 2
8-133880368-G-A c.76G>A p.Val26Met Missense 2/48 - 1
8-133880369-T-C c.77T>C p.Val26Ala Missense 2/48 - 1
8-133880373-T-C c.81T>C p.Asp27Asp Synonymous 2/48 - 1
8-133880373-TG-CC c.81_82delinsCC p.Ala28Pro Missense 2/48 - 1
8-133880374-G-A c.82G>A p.Ala28Thr Missense 2/48 - 2
8-133880374-GC-TT c.82_83delinsTT p.Ala28Phe Missense 2/48 - 2
8-133880374-GC-CT c.82_83delinsCT p.Ala28Leu Missense 2/48 - 1
8-133880375-C-A c.83C>A p.Ala28Asp Missense 2/48 - 1
8-133880376-C-T c.84C>T p.Ala28Ala Synonymous 2/48 - 1
8-133880376-C-A c.84C>A p.Ala28Ala Synonymous 2/48 - 1
8-133880376-C-G c.84C>G p.Ala28Ala Synonymous 2/48 - 1
8-133880377-CA-GC c.85_86delinsGC p.Gln29Ala Missense 2/48 - 2
8-133880377-C-A c.85C>A p.Gln29Lys Missense 2/48 - 1
8-133880380-CC-TT c.88_89delinsTT p.Pro30Phe Missense 2/48 - 1
8-133880381-C-CG c.89_90insG p.Leu31Profs*5 Frameshift 2/48 - 1
8-133880381-C-G c.89C>G p.Pro30Arg Missense 2/48 - 1
8-133880381-C-A c.89C>A p.Pro30His Missense 2/48 - 1
8-133880381-C-T c.89C>T p.Pro30Leu Missense 2/48 - 2
8-133880382-C-CG c.90_91insG p.Leu31Alafs*5 Frameshift 2/48 - 1
8-133880383-CT-GC c.91_92delinsGC p.Leu31Ala Missense 2/48 - 2
8-133880383-CT-TG c.91_92delinsTG p.Leu31Cys Missense 2/48 - 1
8-133880383-CC-C c.91del p.Leu31Phefs*13 Frameshift 2/48 - 1
8-133880383-C-T c.91C>T p.Leu31Phe Missense 2/48 - 4
8-133880383-C-A c.91C>A p.Leu31Ile Missense 2/48 - 2
8-133880386-CGT-TGG c.94_96delinsTGG p.Arg32Trp Missense 2/48 - 1
8-133880386-CGT-TGA c.94_96delinsTGA p.Arg32* Nonsense 2/48 - 1
8-133880386-CGT-AAG c.94_96delinsAAG p.Arg32Lys Missense 2/48 - 3
8-133880389-C-T c.97C>T p.Pro33Ser Missense 2/48 - 2
8-133880389-CC-TT c.97_98delinsTT p.Pro33Phe Missense 2/48 - 3
8-133880390-C-T c.98C>T p.Pro33Leu Missense 2/48 - 1
8-133880392-T-A c.100T>A p.Cys34Ser Missense 2/48 - 1
8-133880392-T-G c.100T>G p.Cys34Gly Missense 2/48 - 3
8-133880393-G-C c.101G>C p.Cys34Ser Missense 2/48 - 1
8-133880392-TG-AC c.100_101delinsAC p.Cys34Thr Missense 2/48 - 1
8-133880395-GA-AT c.103_104delinsAT p.Glu35Met Missense 2/48 - 1
8-133880395-GA-TC c.103_104inv p.Glu35Ser Missense 2/48 - 1
8-133880396-A-G c.104A>G p.Glu35Gly Missense 2/48 - 2
8-133880396-A-T c.104A>T p.Glu35Val Missense 2/48 - 1
8-133880396-A-C c.104A>C p.Glu35Ala Missense 2/48 - 1
8-133880397-G-C c.105G>C p.Glu35Asp Missense 2/48 - 2
8-133880397-G-A c.105G>A p.Glu35Glu Synonymous 2/48 - 1
8-133880397-G-T c.105G>T p.Glu35Asp Missense 2/48 - 2
8-133880398-CT-GC c.106_107delinsGC p.Leu36Ala Missense 2/48 - 1
8-133880399-T-C c.107T>C p.Leu36Pro Missense 2/48 - 1
8-133880401-C-G c.109C>G p.Gln37Glu Missense 2/48 - 1
8-133880404-AG-GC c.112_113delinsGC p.Arg38Ala Missense 2/48 - 1
8-133880404-A-T c.112A>T p.Arg38Trp Missense 2/48 - 1
8-133880409-A-T c.117A>T p.Glu39Asp Missense 2/48 - 1
8-133880409-A-C c.117A>C p.Glu39Asp Missense 2/48 - 1
8-133880410-ACG-TGT c.118_120delinsTGT p.Thr40Cys Missense 2/48 - 1
8-133880413-GC-TT c.121_122delinsTT p.Ala41Phe Missense 2/48 - 2
8-133880413-GC-TG c.121_122delinsTG p.Ala41Cys Missense 2/48 - 2
8-133880414-C-T c.122C>T p.Ala41Val Missense 2/48 - 1
8-133880415-C-G c.123C>G p.Ala41Ala Synonymous 2/48 - 2
8-133880415-C-T c.123C>T p.Ala41Ala Synonymous 2/48 - 2
8-133880415-C-A c.123C>A p.Ala41Ala Synonymous 2/48 - 2
8-133880416-TT-CG c.124_125delinsCG p.Phe42Arg Missense 2/48 - 1
8-133880419-CTG-TTT c.127_129delinsTTT p.Leu43Phe Missense 2/48 - 1
8-133880419-C-T c.127C>T p.Leu43Leu Synonymous 2/48 - 1
8-133880419-C-G c.127C>G p.Leu43Val Missense 2/48 - 1
8-133880419-CT-GC c.127_128delinsGC p.Leu43Ala Missense 2/48 - 1
8-133880420-T-C c.128T>C p.Leu43Pro Missense 2/48 - 1
8-133880422-A-G c.130A>G p.Lys44Glu Missense 2/48 - 1
8-133880422-AA-GC c.130_131delinsGC p.Lys44Ala Missense 2/48 - 56
8-133880423-A-T c.131A>T p.Lys44Met Missense 2/48 - 1
8-133880423-A-G c.131A>G p.Lys44Arg Missense 2/48 - 1
8-133880427-A-C c.135A>C p.Gln45His Missense 2/48 - 1
8-133880427-A-T c.135A>T p.Gln45His Missense 2/48 - 1
8-133880428-GC-AG c.136_137delinsAG p.Ala46Arg Missense 2/48 - 3
8-133880428-GCA-TGT c.136_138delinsTGT p.Ala46Cys Missense 2/48 - 1
8-133880429-C-G c.137C>G p.Ala46Gly Missense 2/48 - 1
8-133880431-G-A c.139G>A p.Asp47Asn Missense 2/48 - 1
8-133880433-C-A c.141C>A p.Asp47Glu Missense 2/48 - 1
8-133880433-C-G c.141C>G p.Asp47Glu Missense 2/48 - 1
8-133880434-TA-GG c.142_143delinsGG p.Tyr48Gly Missense 2/48 - 1
8-133880435-A-T c.143A>T p.Tyr48Phe Missense 2/48 - 1
8-133880437-GTG-TGT c.145_147delinsTGT p.Val49Cys Missense 2/48 - 2
8-133880438-T-G c.146T>G p.Val49Gly Missense 2/48 - 2
8-133880438-T-C c.146T>C p.Val49Ala Missense 2/48 - 3
8-133880440-C-T c.148C>T p.Pro50Ser Missense 2/48 - 1
8-133880440-C-G c.148C>G p.Pro50Ala Missense 2/48 - 1
8-133880440-CC-GG c.148_149inv p.Pro50Gly Missense 2/48 - 2
8-133880442-C-T c.150C>T p.Pro50Pro Synonymous 2/48 - 1
8-133880442-C-G c.150C>G p.Pro50Pro Synonymous 2/48 - 1
8-133880442-C-A c.150C>A p.Pro50Pro Synonymous 2/48 - 1
8-133880443-C-G c.151C>G p.Gln51Glu Missense 2/48 - 1
8-133880445-G-T c.153G>T p.Gln51His Missense 2/48 - 1
8-133880445-G-C c.153G>C p.Gln51His Missense 2/48 - 1
8-133880446-TG-AC c.154_155delinsAC p.Cys52Thr Missense 2/48 - 1
8-133880449-GCA-TGT c.157_159delinsTGT p.Ala53Cys Missense 2/48 - 1
8-133880449-G-T c.157G>T p.Ala53Ser Missense 2/48 - 1
8-133880449-G-A c.157G>A p.Ala53Thr Missense 2/48 - 25
8-133880450-C-T c.158C>T p.Ala53Val Missense 2/48 - 2
8-133880452-G-A c.160G>A p.Glu54Lys Missense 2/48 - 9
8-133880455-GA-TT c.163_164delinsTT p.Asp55Phe Missense 2/48 - 1
8-133880456-A-G c.164A>G p.Asp55Gly Missense 2/48 - 1
8-133880456-A-C c.164A>C p.Asp55Ala Missense 2/48 - 1
8-133880458-G-C c.166G>C p.Gly56Arg Missense 2/48 - 1
8-133880459-G-T c.167G>T p.Gly56Val Missense 2/48 - 1
8-133880461-AG-GC c.169_170delinsGC p.Ser57Ala Missense 2/48 - 1
8-133880461-A-G c.169A>G p.Ser57Gly Missense 2/48 - 1
8-133880465-T-C c.173T>C p.Phe58Ser Missense 2/48 - 2
8-133880467-CA-GC c.175_176delinsGC p.Gln59Ala Missense 2/48 - 1
8-133881975-A-G c.178A>G p.Thr60Ala Missense 3/48 - 2
8-133881976-CT-TG c.179_180delinsTG p.Thr60Met Missense 3/48 - 1
8-133881979-T-G c.182T>G p.Val61Gly Missense 3/48 - 1
8-133881981-CA-GC c.184_185delinsGC p.Gln62Ala Missense 3/48 - 1
8-133881988-A-T c.191A>T p.Gln64Leu Missense 3/48 - 10
8-133881988-A-G c.191A>G p.Gln64Arg Missense 3/48 - 2
8-133881988-A-AA c.191dup p.Asn65Glufs*15 Frameshift 3/48 - 1
8-133881989-G-T c.192G>T p.Gln64His Missense 3/48 - 1
8-133881989-G-C c.192G>C p.Gln64His Missense 3/48 - 1
8-133881990-AAC-CAA c.193_195delinsCAA p.Asn65Gln Missense 3/48 - 2
8-133881990-A-G c.193A>G p.Asn65Asp Missense 3/48 - 1
8-133881992-C-T c.195C>T p.Asn65Asn Synonymous 3/48 - 1
8-133881993-G-C c.196G>C p.Asp66His Missense 3/48 - 1
8-133881996-G-A c.199G>A p.Gly67Ser Missense 3/48 - 1
8-133881997-G-C c.200G>C p.Gly67Ala Missense 3/48 - 2
8-133881999-CGC-AAG c.202_204delinsAAG p.Arg68Lys Missense 3/48 - 1
8-133882002-T-G c.205T>G p.Ser69Ala Missense 3/48 - 1
8-133882005-TG-AC c.208_209delinsAC p.Cys70Thr Missense 3/48 - 1
8-133882005-T-G c.208T>G p.Cys70Gly Missense 3/48 - 1
8-133882007-C-T c.210C>T p.Cys70Cys Synonymous 3/48 - 1
8-133882011-TG-GC c.214_215delinsGC p.Cys72Ala Missense 3/48 - 1
8-133882011-TGT-GAG c.214_216delinsGAG p.Cys72Glu Missense 3/48 - 2
8-133882011-T-A c.214T>A p.Cys72Ser Missense 3/48 - 1
8-133882011-T-G c.214T>G p.Cys72Gly Missense 3/48 - 1
8-133882014-G-A c.217G>A p.Val73Met Missense 3/48 - 2
8-133882014-GT-TC c.217_218delinsTC p.Val73Ser Missense 3/48 - 1
8-133882016-G-A c.219G>A p.Val73Val Synonymous 3/48 - 1
8-133882020-GC-TT c.223_224delinsTT p.Ala75Phe Missense 3/48 - 1
8-133882021-C-A c.224C>A p.Ala75Asp Missense 3/48 - 1
8-133882022-C-A c.225C>A p.Ala75Ala Synonymous 3/48 - 1
8-133882022-C-G c.225C>G p.Ala75Ala Synonymous 3/48 - 1
8-133882022-C-T c.225C>T p.Ala75Ala Synonymous 3/48 - 1
8-133882023-AA-CC c.226_227delinsCC p.Asn76Pro Missense 3/48 - 1
8-133882023-A-G c.226A>G p.Asn76Asp Missense 3/48 - 1
8-133882026-GG-CC c.229_230inv p.Gly77Pro Missense 3/48 - 1
8-133882026-G-A c.229G>A p.Gly77Ser Missense 3/48 - 2
8-133882026-CGG-C c.229_230del p.Gly77Glnfs*2 Frameshift 3/48 - 1
8-133882029-AG-CT c.232_233inv p.Ser78Leu Missense 3/48 - 1
8-133882029-AG-GC c.232_233delinsGC p.Ser78Ala Missense 3/48 - 2
8-133882029-AG-GA c.232_233delinsGA p.Ser78Asp Missense 3/48 - 1
8-133882034-A-G c.237A>G p.Glu79Glu Synonymous 3/48 - 1
8-133882038-CTG-TTT c.241_243delinsTTT p.Leu81Phe Missense 3/48 - 1
8-133882038-C-CC c.241dup p.Leu81Profs*30 Frameshift 3/48 - 1
8-133882038-CT-TG c.241_242delinsTG p.Leu81Trp Missense 3/48 - 1
8-133882040-G-T c.243G>T p.Leu81Leu Synonymous 3/48 - 1
8-133882040-G-C c.243G>C p.Leu81Leu Synonymous 3/48 - 1
8-133882040-G-A c.243G>A p.Leu81Leu Synonymous 3/48 - 1
8-133882038-C-T c.241C>T p.Leu81Leu Synonymous 3/48 - 1
8-133882041-G-A c.244G>A p.Gly82Ser Missense 3/48 - 5
8-133882044-AG-CT c.247_248inv p.Ser83Leu Missense 3/48 - 5
8-133882045-G-T c.248G>T p.Ser83Ile Missense 3/48 - 2
8-133882044-A-C c.247A>C p.Ser83Arg Missense 3/48 - 2
8-133882046-C-A c.249C>A p.Ser83Arg Missense 3/48 - 2
8-133882046-C-G c.249C>G p.Ser83Arg Missense 3/48 - 2
8-133882047-AG-GC c.250_251delinsGC p.Arg84Ala Missense 3/48 - 3
8-133882047-A-C c.250A>C p.Arg84Arg Synonymous 3/48 - 1
8-133882049-G-C c.252G>C p.Arg84Ser Missense 3/48 - 1
8-133882049-G-A c.252G>A p.Arg84Arg Synonymous 3/48 - 1
8-133882050-CAG-AAC c.253_255delinsAAC p.Gln85Asn Missense 3/48 - 1
8-133882051-A-T c.254A>T p.Gln85Leu Missense 3/48 - 3
8-133882057-G-C c.260G>C p.Gly87Ala Missense 3/48 - 1
8-133882059-CG-AT c.262_263delinsAT p.Arg88Met Missense 3/48 - 1
8-133882061-GG-G c.264del p.Pro89Leufs*17 Frameshift 3/48 - 1
8-133882062-C-T c.265C>T p.Pro89Ser Missense 3/48 - 1
8-133882064-T-A c.267T>A p.Pro89Pro Synonymous 3/48 - 1
8-133882064-T-C c.267T>C p.Pro89Pro Synonymous 3/48 - 1
8-133882064-T-G c.267T>G p.Pro89Pro Synonymous 3/48 - 1
8-133882065-GTG-ATC c.268_270delinsATC p.Val90Ile Missense 3/48 - 4
8-133882065-G-C c.268G>C p.Val90Leu Missense 3/48 - 1
8-133882065-G-T c.268G>T p.Val90Leu Missense 3/48 - 1
8-133882068-GC-TG c.271_272delinsTG p.Ala91Cys Missense 3/48 - 1
8-133882069-C-A c.272C>A p.Ala91Asp Missense 3/48 - 1
8-133882073-T-G c.274+2T>G - IntronicSNV - 3/47 2
8-133883598-T-G c.280T>G p.Ser94Ala Missense 4/48 - 2
8-133883601-TT-GC c.283_284delinsGC p.Phe95Ala Missense 4/48 - 2
8-133883601-TT-CG c.283_284delinsCG p.Phe95Arg Missense 4/48 - 1
8-133883601-T-C c.283T>C p.Phe95Leu Missense 4/48 - 1
8-133883603-T-G c.285T>G p.Phe95Leu Missense 4/48 - 1
8-133883603-T-A c.285T>A p.Phe95Leu Missense 4/48 - 1
8-133883602-T-A c.284T>A p.Phe95Tyr Missense 4/48 - 1
8-133883605-G-A c.287G>A p.Cys96Tyr Missense 4/48 - 12
8-133883607-C-T c.289C>T p.Gln97* Nonsense 4/48 - 2
8-133883610-C-T c.292C>T p.Leu98Leu Synonymous 4/48 - 1
8-133883610-CT-GG c.292_293delinsGG p.Leu98Gly Missense 4/48 - 1
8-133883611-T-G c.293T>G p.Leu98Arg Missense 4/48 - 3
8-133883612-A-AA c.294dup p.Gln99Thrfs*12 Frameshift 4/48 - 1
8-133883613-CAG-TTT c.295_297delinsTTT p.Gln99Phe Missense 4/48 - 1
8-133883613-C-T c.295C>T p.Gln99* Nonsense 4/48 - 1
8-133883614-A-T c.296A>T p.Gln99Leu Missense 4/48 - 1
8-133883616-AAA-GAC c.298_300delinsGAC p.Lys100Asp Missense 4/48 - 1
8-133883616-AAA-TGT c.298_300delinsTGT p.Lys100Cys Missense 4/48 - 1
8-133883617-AA-TG c.299_300delinsTG p.Lys100Met Missense 4/48 - 3
8-133883618-A-C c.300A>C p.Lys100Asn Missense 4/48 - 1
8-133883621-GC-CA c.303_304delinsCA p.Gln101_Gln102delinsHisLys MultiAAMissense 4/48 - 1
8-133883622-CAG-AAC c.304_306delinsAAC p.Gln102Asn Missense 4/48 - 1
8-133883625-AT-GG c.307_308delinsGG p.Ile103Gly Missense 4/48 - 1
8-133883626-T-C c.308T>C p.Ile103Thr Missense 4/48 - 1
8-133883626-T-G c.308T>G p.Ile103Ser Missense 4/48 - 1
8-133883632-T-C c.314T>C p.Leu105Pro Missense 4/48 - 1
8-133883634-AGT-TGA c.316_318delinsTGA p.Ser106* Nonsense 4/48 - 1
8-133883634-GAGTGGCTACATTAACAGCACA-G c.316_336del p.Ser106_Thr112del InFrameDeletion 4/48 - 1
8-133883638-G-C c.320G>C p.Gly107Ala Missense 4/48 - 1
8-133883640-TA-AT c.322_323delinsAT p.Tyr108Ile Missense 4/48 - 1
8-133883641-A-G c.323A>G p.Tyr108Cys Missense 4/48 - 1
8-133883646-AA-TT c.328_329inv p.Asn110Phe Missense 4/48 - 1
8-133883647-AC-GG c.329_330delinsGG p.Asn110Arg Missense 4/48 - 1
8-133883648-C-A c.330C>A p.Asn110Lys Missense 4/48 - 1
8-133883652-ACA-TGT c.334_336inv p.Thr112Cys Missense 4/48 - 2
8-133883652-A-G c.334A>G p.Thr112Ala Missense 4/48 - 2
8-133883657-C-G c.339C>G p.Asp113Glu Missense 4/48 - 1
8-133883658-A-G c.340A>G p.Thr114Ala Missense 4/48 - 2
8-133883660-C-A c.342C>A p.Thr114Thr Synonymous 4/48 - 1
8-133883660-C-T c.342C>T p.Thr114Thr Synonymous 4/48 - 1
8-133883660-C-G c.342C>G p.Thr114Thr Synonymous 4/48 - 1
8-133883661-T-G c.343T>G p.Ser115Ala Missense 4/48 - 2
8-133883661-T-C c.343T>C p.Ser115Pro Missense 4/48 - 1
8-133883661-TCC-GAG c.343_345delinsGAG p.Ser115Glu Missense 4/48 - 2
8-133883662-TCCT-T c.344_346del p.Ser115del InFrameDeletion 4/48 - 1
8-133883663-C-T c.345C>T p.Ser115Ser Synonymous 4/48 - 1
8-133883667-C-T c.349C>T p.Leu117Phe Missense 4/48 - 2
8-133883670-C-G c.352C>G p.Pro118Ala Missense 4/48 - 1
8-133883671-C-T c.353C>T p.Pro118Leu Missense 4/48 - 2
8-133883673-TC-T c.355del p.Gln119Serfs*48 Frameshift 4/48 - 1
8-133883680-A-G c.362A>G p.Gln121Arg Missense 4/48 - 1
8-133883682-G-T c.364G>T p.Asp122Tyr Missense 4/48 - 1
8-133883684-T-A c.366T>A p.Asp122Glu Missense 4/48 - 1
8-133883685-T-G c.367T>G p.Ser123Ala Missense 4/48 - 3
8-133883692-A-G c.374A>G p.Asp125Gly Missense 4/48 - 1
8-133883698-C-T c.380C>T p.Ala127Val Missense 4/48 - 1
8-133883707-A-G c.389A>G p.Gln130Arg Missense 4/48 - 1
8-133883709-TG-GC c.391_392delinsGC p.Cys131Ala Missense 4/48 - 1
8-133883711-T-TTCAGC c.393_394insTCAGC p.Asp132Serfs*37 Frameshift 4/48 - 1
8-133883712-G-C c.394G>C p.Asp132His Missense 4/48 - 1
8-133883713-GA-G c.395del p.Asp132Valfs*35 Frameshift 4/48 - 1
8-133883718-GC-G c.400del p.Gln134Serfs*33 Frameshift 4/48 - 1
8-133883730-T-A c.412T>A p.Cys138Ser Missense 4/48 - 1
8-133883737-G-A c.419G>A p.Cys140Tyr Missense 4/48 - 1
8-133883742-GA-TG c.424_425delinsTG p.Asp142Cys Missense 4/48 - 2
8-133883742-G-A c.424G>A p.Asp142Asn Missense 4/48 - 4
8-133883743-GACG-G c.425_427del p.Asp142del InFrameDeletion 4/48 - 1
8-133883746-C-T c.428C>T p.Ala143Val Missense 4/48 - 1
8-133883748-G-C c.430G>C p.Glu144Gln Missense 4/48 - 1
8-133883751-GGG-AGC c.433_435delinsAGC p.Gly145Ser Missense 4/48 - 1
8-133883751-GG-AC c.433_434delinsAC p.Gly145Thr Missense 4/48 - 1
8-133883751-GG-CT c.433_434delinsCT p.Gly145Leu Missense 4/48 - 1
8-133883754-AT-GC c.436_437delinsGC p.Met146Ala Missense 4/48 - 1
8-133883754-A-C c.436A>C p.Met146Leu Missense 4/48 - 6
8-133883754-A-G c.436A>G p.Met146Val Missense 4/48 - 2
8-133883754-A-T c.436A>T p.Met146Leu Missense 4/48 - 6
8-133883757-G-A c.439G>A p.Glu147Lys Missense 4/48 - 1
8-133883758-A-C c.440A>C p.Glu147Ala Missense 4/48 - 1
8-133883760-GTG-TGT c.442_444delinsTGT p.Val148Cys Missense 4/48 - 2
8-133883760-GTG-ATC c.442_444delinsATC p.Val148Ile Missense 4/48 - 3
8-133883761-T-C c.443T>C p.Val148Ala Missense 4/48 - 1
8-133883766-GGG-TTT c.448_450delinsTTT p.Gly150Phe Missense 4/48 - 2
8-133883768-G-GG c.450dup p.Thr151Aspfs*15 Frameshift 4/48 - 1
8-133883770-C-T c.452C>T p.Thr151Ile Missense 4/48 - 1
8-133883772-C-T c.454C>T p.Arg152Cys Missense 4/48 - 2
8-133883772-CG-GC c.454_455delinsGC p.Arg152Ala Missense 4/48 - 1
8-133883773-GC-AA c.455_456delinsAA p.Arg152Gln Missense 4/48 - 1
8-133883773-G-A c.455G>A p.Arg152His Missense 4/48 - 1
8-133883776-A-C c.458A>C p.Gln153Pro Missense 4/48 - 1
8-133883781-GGG-AGC c.463_465delinsAGC p.Gly155Ser Missense 4/48 - 1
8-133883782-GG-AC c.464_465delinsAC p.Gly155Asp Missense 4/48 - 1
8-133883790-AA-GC c.472_473delinsGC p.Lys158Ala Missense 4/48 - 1
8-133883790-AAAG-A c.472_474del p.Lys158del InFrameDeletion 4/48 - 1
8-133883790-A-G c.472A>G p.Lys158Glu Missense 4/48 - 1
8-133883795-A-ACCTC c.477_478insCCTC p.Cys160Profs*7 SpliceDonorInsertion 4/48 - 1
8-133883796-T-G c.478T>G p.Cys160Gly Missense 4/48 - 1
8-133885311-CAAGGAGC-C c.483_489del p.Arg162Valfs*3 Frameshift 5/48 - 1
8-133885312-A-T c.484A>T p.Arg162Trp Missense 5/48 - 2
8-133885312-A-G c.484A>G p.Arg162Gly Missense 5/48 - 1
8-133885317-C-T c.489C>T p.Ser163Ser Synonymous 5/48 - 1
8-133885321-G-A c.493G>A p.Glu165Lys Missense 5/48 - 1
8-133885322-A-C c.494A>C p.Glu165Ala Missense 5/48 - 1
8-133885327-A-G c.499A>G p.Arg167Gly Missense 5/48 - 2
8-133885330-AA-GC c.502_503delinsGC p.Asn168Ala Missense 5/48 - 1
8-133885342-C-T c.514C>T p.Leu172Phe Missense 5/48 - 1
8-133885348-GGG-TGT c.520_522delinsTGT p.Gly174Cys Missense 5/48 - 1
8-133885348-G-A c.520G>A p.Gly174Arg Missense 5/48 - 1
8-133885349-G-C c.521G>C p.Gly174Ala Missense 5/48 - 1
8-133885351-G-T c.523G>T p.Val175Leu Missense 5/48 - 2
8-133885351-G-C c.523G>C p.Val175Leu Missense 5/48 - 2
8-133885355-G-A c.527G>A p.Gly176Glu Missense 5/48 - 2
8-133885359-AT-A c.531del p.Asp177Glufs*26 Frameshift 5/48 - 1
8-133885360-A-G c.532A>G p.Lys178Glu Missense 5/48 - 5
8-133885361-A-G c.533A>G p.Lys178Arg Missense 5/48 - 1
8-133885363-TC-GG c.535_536delinsGG p.Ser179Gly Missense 5/48 - 1
8-133885364-CA-GT c.536_537delinsGT p.Ser179Cys Missense 5/48 - 1
8-133885366-CC-GG c.538_539inv p.Pro180Gly Missense 5/48 - 1
8-133885370-C-T c.542C>T p.Pro181Leu Missense 5/48 - 1
8-133885372-CC-C c.544del p.Gln182Serfs*21 Frameshift 5/48 - 1
8-133885374-G-A c.546G>A p.Gln182Gln Synonymous 5/48 - 1
8-133885375-T-A c.547T>A p.Cys183Ser Missense 5/48 - 1
8-133885376-G-C c.548G>C p.Cys183Ser Missense 5/48 - 1
8-133885378-TT-T c.550del p.Ser184Leufs*19 Frameshift 5/48 - 1
8-133885378-T-G c.550T>G p.Ser184Ala Missense 5/48 - 1
8-133885379-C-G c.551C>G p.Ser184Cys Missense 5/48 - 1
8-133885381-G-T c.553G>T p.Ala185Ser Missense 5/48 - 10
8-133885386-G-C c.558G>C p.Glu186Asp Missense 5/48 - 1
8-133885391-A-C c.563A>C p.Glu188Ala Missense 5/48 - 2
8-133885399-C-A c.571C>A p.Pro191Thr Missense 5/48 - 1
8-133885403-T-C c.575T>C p.Val192Ala Missense 5/48 - 2
8-133885405-C-T c.577C>T p.Gln193* Nonsense 5/48 - 1
8-133885406-A-G c.578A>G p.Gln193Arg Missense 5/48 - 1
8-133885409-G-C c.581G>C p.Cys194Ser Missense 5/48 - 1
8-133885408-TG-GC c.580_581delinsGC p.Cys194Ala Missense 5/48 - 2
8-133885408-T-A c.580T>A p.Cys194Ser Missense 5/48 - 1
8-133885410-C-T c.582C>T p.Cys194Cys Synonymous 5/48 - 1
8-133885411-AA-GC c.583_584delinsGC p.Lys195Ala Missense 5/48 - 2
8-133885412-A-G c.584A>G p.Lys195Arg Missense 5/48 - 1
8-133885414-TT-GC c.586_587delinsGC p.Phe196Ala Missense 5/48 - 1
8-133885415-TT-GG c.587_588delinsGG p.Phe196Trp Missense 5/48 - 1
8-133885423-A-G c.595A>G p.Thr199Ala Missense 5/48 - 1
8-133885423-A-T c.595A>T p.Thr199Ser Missense 5/48 - 1
8-133885424-C-G c.596C>G p.Thr199Ser Missense 5/48 - 1
8-133885426-ACA-CAT c.598_600delinsCAT p.Thr200His Missense 5/48 - 1
8-133885426-A-G c.598A>G p.Thr200Ala Missense 5/48 - 1
8-133885430-A-C c.602A>C p.Asp201Ala Missense 5/48 - 1
8-133885437-TG-T c.609del p.Met203Ilefs*17 Frameshift 5/48 - 1
8-133885440-T-TC c.612_613insC p.Phe205Leufs*2 Frameshift 5/48 - 1
8-133885440-T-G c.612T>G p.Ile204Met Missense 5/48 - 2
8-133885445-A-C c.617A>C p.Asp206Ala Missense 5/48 - 1
8-133885446-T-A c.618T>A p.Asp206Glu Missense 5/48 - 2
8-133885446-T-G c.618T>G p.Asp206Glu Missense 5/48 - 2
8-133885450-GT-AA c.622_623delinsAA p.Val208Asn Missense 5/48 - 1
8-133885451-T-C c.623T>C p.Val208Ala Missense 5/48 - 2
8-133885454-A-G c.626A>G p.His209Arg Missense 5/48 - 1
8-133885455-AC-A c.627del p.His209Glnfs*11 Frameshift 5/48 - 1
8-133885459-TA-GG c.631_632delinsGG p.Tyr211Gly Missense 5/48 - 1
8-133885459-TA-GC c.631_632delinsGC p.Tyr211Ala Missense 5/48 - 1
8-133885463-A-G c.635A>G p.Asn212Ser Missense 5/48 - 1
8-133885465-AG-CT c.637_638inv p.Arg213Leu Missense 5/48 - 1
8-133885465-A-G c.637A>G p.Arg213Gly Missense 5/48 - 7
8-133885465-AG-GA c.637_638delinsGA p.Arg213Glu Missense 5/48 - 1
8-133885471-G-A c.638+5G>A - IntronicSNV - 5/47 2
8-133894115-G-C c.646G>C p.Asp216His Missense 6/48 - 1
8-133894117-ATGCATTTGT-A c.648_656del p.Asp216_Val219delinsGlu MultiAAMissense 6/48 - 1
8-133894119-C-A c.650C>A p.Ala217Glu Missense 6/48 - 1
8-133894120-A-T c.651A>T p.Ala217Ala Synonymous 6/48 - 1
8-133894127-AC-TG c.658_659delinsTG p.Thr220Cys Missense 6/48 - 1
8-133894127-A-G c.658A>G p.Thr220Ala Missense 6/48 - 1
8-133894133-AG-GA c.664_665delinsGA p.Ser222Asp Missense 6/48 - 1
8-133894134-G-T c.665G>T p.Ser222Ile Missense 6/48 - 1
8-133894135-GTTCCTTCCAGAGGAGGTTCCCT-G c.666_687del p.Ser222Argfs*173 Frameshift 6/48 - 1
8-133894139-TT-GC c.670_671delinsGC p.Phe224Ala Missense 6/48 - 2
8-133894142-C-T c.673C>T p.Gln225* Nonsense 6/48 - 1
8-133894144-G-C c.675G>C p.Gln225His Missense 6/48 - 1
8-133894144-G-T c.675G>T p.Gln225His Missense 6/48 - 1
8-133894145-A-T c.676A>T p.Arg226Trp Missense 6/48 - 1
8-133894145-AG-GC c.676_677delinsGC p.Arg226Ala Missense 6/48 - 1
8-133894145-AG-CT c.676_677inv p.Arg226Leu Missense 6/48 - 1
8-133894146-G-A c.677G>A p.Arg226Lys Missense 6/48 - 1
8-133894148-AG-TA c.679_680delinsTA p.Arg227* Nonsense 6/48 - 1
8-133894148-AG-CA c.679_680delinsCA p.Arg227Gln Missense 6/48 - 1
8-133894151-T-TAAATCTGAC c.682_683insAAATCTGAC p.Phe228delins* Nonsense 6/48 - 1
8-133894151-T-TGAGT c.682_683insGAGT p.Phe228* Nonsense 6/48 - 1
8-133894152-T-C c.683T>C p.Phe228Ser Missense 6/48 - 1
8-133894152-TT-T c.683del p.Phe228Serfs*174 Frameshift 6/48 - 1
8-133894157-G-A c.688G>A p.Glu230Lys Missense 6/48 - 2
8-133894163-T-A c.694T>A p.Ser232Thr Missense 6/48 - 1
8-133894164-CT-GG c.695_696delinsGG p.Ser232Trp Missense 6/48 - 1
8-133894166-GGG-TGT c.697_699delinsTGT p.Gly233Cys Missense 6/48 - 1
8-133894166-GGG-AGC c.697_699delinsAGC p.Gly233Ser Missense 6/48 - 1
8-133894169-T-A c.700T>A p.Tyr234Asn Missense 6/48 - 1
8-133894169-T-C c.700T>C p.Tyr234His Missense 6/48 - 1
8-133894173-G-C c.704G>C p.Cys235Ser Missense 6/48 - 1
8-133894172-T-A c.703T>A p.Cys235Ser Missense 6/48 - 1
8-133894174-C-A c.705C>A p.Cys235* Nonsense 6/48 - 1
8-133894179-TG-T c.710del p.Cys237Leufs*165 Frameshift 6/48 - 1
8-133894185-A-C c.716A>C p.Asp239Ala Missense 6/48 - 2
8-133894187-AG-TT c.718_719delinsTT p.Ser240Phe Missense 6/48 - 1
8-133894187-AG-CC c.718_719delinsCC p.Ser240Pro Missense 6/48 - 1
8-133894188-G-GG c.719dup p.Ser240Argfs*8 Frameshift 6/48 - 1
8-133894188-G-C c.719G>C p.Ser240Thr Missense 6/48 - 1
8-133894194-G-A c.725G>A p.Gly242Glu Missense 6/48 - 1
8-133894208-G-T c.739G>T p.Glu247* Nonsense 6/48 - 1
8-133894211-GA-G c.742del p.Thr248Glnfs*154 Frameshift 6/48 - 1
8-133894716-TT-AC c.748_749delinsAC p.Leu250Thr Missense 7/48 - 1
8-133894717-T-C c.749T>C p.Leu250Ser Missense 7/48 - 1
8-133894720-A-AA c.752dup p.Leu252Valfs*5 Frameshift 7/48 - 1
8-133894722-T-G c.754T>G p.Leu252Val Missense 7/48 - 1
8-133894722-TT-AG c.754_755delinsAG p.Leu252Arg Missense 7/48 - 1
8-133894722-TT-GC c.754_755delinsGC p.Leu252Ala Missense 7/48 - 1
8-133894723-T-C c.755T>C p.Leu252Ser Missense 7/48 - 1
8-133894725-T-G c.757T>G p.Leu253Val Missense 7/48 - 1
8-133894728-CT-GC c.760_761delinsGC p.Leu254Ala Missense 7/48 - 1
8-133894731-G-C c.763G>C p.Asp255His Missense 7/48 - 1
8-133894733-T-G c.765T>G p.Asp255Glu Missense 7/48 - 2
8-133894733-T-A c.765T>A p.Asp255Glu Missense 7/48 - 2
8-133894734-G-A c.766G>A p.Glu256Lys Missense 7/48 - 1
8-133894744-A-C c.776A>C p.Asp259Ala Missense 7/48 - 2
8-133894745-C-A c.777C>A p.Asp259Glu Missense 7/48 - 1
8-133894746-A-G c.778A>G p.Thr260Ala Missense 7/48 - 1
8-133894749-CA-C c.781del p.Ile261Phefs*141 Frameshift 7/48 - 1
8-133894756-C-G c.788C>G p.Ala263Gly Missense 7/48 - 1
8-133894758-G-C c.790G>C p.Gly264Arg Missense 7/48 - 1
8-133894761-CT-TG c.793_794delinsTG p.Leu265Trp Missense 7/48 - 1
8-133894761-C-A c.793C>A p.Leu265Met Missense 7/48 - 1
8-133894762-CTGGACCTTC-C c.794_802del p.Leu265_Leu267del InFrameDeletion 7/48 - 1
8-133894762-T-G c.794T>G p.Leu265Arg Missense 7/48 - 1
8-133894764-G-A c.796G>A p.Asp266Asn Missense 7/48 - 1
8-133894765-A-G c.797A>G p.Asp266Gly Missense 7/48 - 1
8-133894765-A-C c.797A>C p.Asp266Ala Missense 7/48 - 1
8-133894770-C-A c.802C>A p.Pro268Thr Missense 7/48 - 1
8-133894773-TC-GA c.805_806inv p.Ser269Asp Missense 7/48 - 1
8-133894773-T-G c.805T>G p.Ser269Ala Missense 7/48 - 2
8-133894778-C-G c.810C>G p.Thr270Thr Synonymous 7/48 - 2
8-133894778-C-A c.810C>A p.Thr270Thr Synonymous 7/48 - 2
8-133894787-A-T c.819A>T p.Glu273Asp Missense 7/48 - 1
8-133894788-AA-A c.820del p.Thr274Profs*128 Frameshift 7/48 - 1
8-133894791-A-G c.823A>G p.Thr275Ala Missense 7/48 - 3
8-133894793-C-A c.825C>A p.Thr275Thr Synonymous 7/48 - 1
8-133894793-C-G c.825C>G p.Thr275Thr Synonymous 7/48 - 1
8-133894793-C-T c.825C>T p.Thr275Thr Synonymous 7/48 - 1
8-133894794-CTG-TGT c.826_828delinsTGT p.Leu276Cys Missense 7/48 - 1
8-133894794-CTG-GAC c.826_828delinsGAC p.Leu276Asp Missense 7/48 - 6
8-133894795-T-G c.827T>G p.Leu276Arg Missense 7/48 - 1
8-133894800-CG-GC c.832_833delinsGC p.Arg278Ala Missense 7/48 - 1
8-133894806-CTG-TTT c.838_840delinsTTT p.Leu280Phe Missense 7/48 - 1
8-133894807-T-C c.839T>C p.Leu280Pro Missense 7/48 - 1
8-133894812-AGA-TGG c.844_846delinsTGG p.Arg282Trp Missense 7/48 - 2
8-133894812-A-G c.844A>G p.Arg282Gly Missense 7/48 - 1
8-133894814-A-T c.846A>T p.Arg282Ser Missense 7/48 - 1
8-133894814-A-C c.846A>C p.Arg282Ser Missense 7/48 - 1
8-133894815-AC-A c.847del p.Arg283Glyfs*119 Frameshift 7/48 - 1
8-133894815-CGG-GAC c.847_849delinsGAC p.Arg283Asp Missense 7/48 - 1
8-133894821-CT-GA c.853_854delinsGA p.Leu285Asp Missense 7/48 - 2
8-133894822-T-G c.854T>G p.Leu285Arg Missense 7/48 - 1
8-133894825-C-T c.857C>T p.Ala286Val Missense 7/48 - 1
8-133894828-TT-AG c.860_861delinsAG p.Val287Glu Missense 7/48 - 1
8-133894828-T-C c.860T>C p.Val287Ala Missense 7/48 - 1
8-133894833-T-A c.865T>A p.Ser289Thr Missense 7/48 - 1
8-133894833-AT-A c.865del p.Ser289Glnfs*113 Frameshift 7/48 - 1
8-133894836-GTC-ATG c.868_870delinsATG p.Val290Met Missense 7/48 - 3
8-133894839-AT-GC c.871_872delinsGC p.Ile291Ala Missense 7/48 - 1
8-133894840-T-TT c.872dup p.Ser292Leufs*11 Frameshift 7/48 - 1
8-133894843-C-CC c.875dup p.Gly293Trpfs*10 Frameshift 7/48 - 1
8-133894849-G-T c.881G>T p.Arg294Ile Missense 7/48 - 1
8-133894849-G-A c.881G>A p.Arg294Lys Missense 7/48 - 1
8-133894852-T-C c.884T>C p.Phe295Ser Missense 7/48 - 1
8-133894854-C-T c.886C>T p.Arg296* Nonsense 7/48 - 3
8-133894857-T-A c.889T>A p.Cys297Ser Missense 7/48 - 1
8-133895059-G-C c.890G>C p.Cys297Ser Missense 8/48 - 1
8-133895059-G-A c.890G>A p.Cys297Tyr Missense 8/48 - 1
8-133895064-A-G c.895A>G p.Thr299Ala Missense 8/48 - 1
8-133895067-A-C c.898A>C p.Lys300Gln Missense 8/48 - 1
8-133895070-TG-AC c.901_902delinsAC p.Cys301Thr Missense 8/48 - 2
8-133895074-A-C c.905A>C p.Glu302Ala Missense 8/48 - 2
8-133895084-G-C c.915G>C p.Arg305Arg Synonymous 8/48 - 1
8-133895088-A-T c.919A>T p.Thr307Ser Missense 8/48 - 1
8-133895088-A-G c.919A>G p.Thr307Ala Missense 8/48 - 1
8-133895089-AC-A c.920del p.Thr307Lysfs*95 Frameshift 8/48 - 1
8-133895094-AC-GG c.925_926delinsGG p.Thr309Gly Missense 8/48 - 17
8-133895094-A-G c.925A>G p.Thr309Ala Missense 8/48 - 1
8-133895100-CTTT-C c.931_933del p.Phe311del InFrameDeletion 8/48 - 1
8-133895104-G-C c.935G>C p.Gly312Ala Missense 8/48 - 1
8-133895117-TT-T c.948del p.Pro317Glnfs*85 Frameshift 8/48 - 2
8-133895118-C-A c.949C>A p.Pro317Thr Missense 8/48 - 1
8-133895121-AA-A c.952del p.Ser318Alafs*84 Frameshift 8/48 - 1
8-133895121-AG-GC c.952_953delinsGC p.Ser318Ala Missense 8/48 - 1
8-133895122-G-C c.953G>C p.Ser318Thr Missense 8/48 - 1
8-133895123-C-CC c.954dup p.Cys319Leufs*42 Frameshift 8/48 - 1
8-133895125-G-C c.956G>C p.Cys319Ser Missense 8/48 - 1
8-133895124-T-A c.955T>A p.Cys319Ser Missense 8/48 - 1
8-133895128-GC-AA c.959_960delinsAA p.Arg320Gln Missense 8/48 - 1
8-133895130-CG-GC c.961_962delinsGC p.Arg321Ala Missense 8/48 - 1
8-133895130-C-T c.961C>T p.Arg321* Nonsense 8/48 - 1
8-133895133-AAAT-A c.964_966del p.Asn322del InFrameDeletion 8/48 - 1
8-133895136-G-C c.967G>C p.Gly323Arg Missense 8/48 - 2
8-133895137-G-C c.968G>C p.Gly323Ala Missense 8/48 - 1
8-133895141-C-A c.972C>A p.Asp324Glu Missense 8/48 - 1
8-133895141-C-G c.972C>G p.Asp324Glu Missense 8/48 - 1
8-133895142-T-A c.973T>A p.Tyr325Asn Missense 8/48 - 1
8-133895143-A-T c.974A>T p.Tyr325Phe Missense 8/48 - 1
8-133895145-C-T c.976C>T p.Gln326* Nonsense 8/48 - 1
8-133895160-CAG-TGT c.991_993delinsTGT p.Gln331Cys Missense 8/48 - 1
8-133895167-A-G c.998A>G p.Glu333Gly Missense 8/48 - 1
8-133895175-TG-GT c.1006_1007delinsGT p.Cys336Val Missense 8/48 - 1
8-133895177-GC-G c.1008del p.Trp337Glyfs*65 Frameshift 8/48 - 1
8-133895178-TG-GC c.1009_1010delinsGC p.Trp337Ala Missense 8/48 - 1
8-133895179-G-A c.1010G>A p.Trp337* Nonsense 8/48 - 1
8-133895181-T-A c.1012T>A p.Cys338Ser Missense 8/48 - 1
8-133895181-TG-GC c.1012_1013delinsGC p.Cys338Ala Missense 8/48 - 2
8-133895187-GAC-TAA c.1018_1020delinsTAA p.Asp340* Nonsense 8/48 - 1
8-133895188-A-G c.1019A>G p.Asp340Gly Missense 8/48 - 2
8-133895192-C-T c.1023C>T p.Ala341Ala Synonymous 8/48 - 1
8-133895193-C-T c.1024C>T p.Gln342* Nonsense 8/48 - 1
8-133895205-A-G c.1036A>G p.Met346Val Missense 8/48 - 1
8-133895212-GG-G c.1043del p.Gly348Glufs*54 Frameshift 8/48 - 1
8-133895212-G-C c.1043G>C p.Gly348Ala Missense 8/48 - 1
8-133895220-GC-G c.1051del p.Gln351Serfs*51 Frameshift 8/48 - 1
8-133895223-C-T c.1054C>T p.Gln352* Nonsense 8/48 - 1
8-133895229-GAG-AAC c.1060_1062delinsAAC p.Glu354Asn Missense 8/48 - 1
8-133895229-GG-G c.1060del p.Glu354Serfs*48 Frameshift 8/48 - 1
8-133895229-G-C c.1060G>C p.Glu354Gln Missense 8/48 - 1
8-133895230-A-C c.1061A>C p.Glu354Ala Missense 8/48 - 2
8-133895231-G-A c.1062G>A p.Glu354Glu Synonymous 8/48 - 1
8-133895239-C-T c.1070C>T p.Ser357Phe Missense 8/48 - 1
8-133895242-G-GCC c.1073_1074insCC p.Ala359Leufs*44 SpliceDonorInsertion 8/48 - 1
8-133895242-G-GC c.1073_1074insC p.Ala359Cysfs*2 SpliceDonorInsertion 8/48 - 1
8-133895243-GT-G c.1074del p.Cys358Trpfs*44 Frameshift 8/48 - 1
8-133895244-G-T c.1075G>T p.Ala359Ser Missense 8/48 - 1
8-133898692-G-C c.1076-1G>C - IntronicSNV - 8/47 1
8-133898695-G-T c.1078G>T p.Glu360* Nonsense 9/48 - 1
8-133898704-T-G c.1087T>G p.Ser363Ala Missense 9/48 - 1
8-133898704-TC-AA c.1087_1088delinsAA p.Ser363Asn Missense 9/48 - 1
8-133898707-T-A c.1090T>A p.Cys364Ser Missense 9/48 - 1
8-133898708-G-C c.1091G>C p.Cys364Ser Missense 9/48 - 1
8-133898711-C-T c.1094C>T p.Ala365Val Missense 9/48 - 1
8-133898713-T-G c.1096T>G p.Ser366Ala Missense 9/48 - 3
8-133898713-TC-GT c.1096_1097delinsGT p.Ser366Val Missense 9/48 - 1
8-133898715-C-CC c.1098dup p.Glu367Argfs*118 Frameshift 9/48 - 1
8-133898719-AGG-TGT c.1102_1104delinsTGT p.Arg368Cys Missense 9/48 - 1
8-133898719-AG-CT c.1102_1103inv p.Arg368Leu Missense 9/48 - 1
8-133898719-AG-GA c.1102_1103delinsGA p.Arg368Glu Missense 9/48 - 1
8-133898719-AGG-CAT c.1102_1104delinsCAT p.Arg368His Missense 9/48 - 1
8-133898720-G-C c.1103G>C p.Arg368Thr Missense 9/48 - 1
8-133898725-C-T c.1108C>T p.Gln370* Nonsense 9/48 - 1
8-133898737-AG-CA c.1120_1121delinsCA p.Arg374Gln Missense 9/48 - 1
8-133898737-AG-GC c.1120_1121delinsGC p.Arg374Ala Missense 9/48 - 2
8-133898738-G-C c.1121G>C p.Arg374Thr Missense 9/48 - 1
8-133898746-T-G c.1129T>G p.Phe377Val Missense 9/48 - 1
8-133898748-T-C c.1131T>C p.Phe377Phe Synonymous 9/48 - 1
8-133898750-G-C c.1133G>C p.Gly378Ala Missense 9/48 - 1
8-133898752-A-T c.1135A>T p.Thr379Ser Missense 9/48 - 1
8-133898753-C-G c.1136C>G p.Thr379Ser Missense 9/48 - 1
8-133898768-G-T c.1151G>T p.Ser384Ile Missense 9/48 - 1
8-133898770-C-T c.1153C>T p.Gln385* Nonsense 9/48 - 1
8-133898770-C-G c.1153C>G p.Gln385Glu Missense 9/48 - 1
8-133898773-C-T c.1156C>T p.His386Tyr Missense 9/48 - 1
8-133898773-CA-AC c.1156_1157delinsAC p.His386Thr Missense 9/48 - 1
8-133898776-GA-AG c.1159_1160delinsAG p.Asp387Ser Missense 9/48 - 1
8-133898776-GA-AC c.1159_1160delinsAC p.Asp387Thr Missense 9/48 - 1
8-133898777-A-T c.1160A>T p.Asp387Val Missense 9/48 - 1
8-133898777-A-C c.1160A>C p.Asp387Ala Missense 9/48 - 1
8-133898779-CT-GC c.1162_1163delinsGC p.Leu388Ala Missense 9/48 - 1
8-133898782-T-C c.1165T>C p.Phe389Leu Missense 9/48 - 1
8-133898784-C-G c.1167C>G p.Phe389Leu Missense 9/48 - 1
8-133898784-C-A c.1167C>A p.Phe389Leu Missense 9/48 - 1
8-133898785-T-C c.1168T>C p.Ser390Pro Missense 9/48 - 1
8-133898788-TC-CT c.1171_1172delinsCT p.Ser391Leu Missense 9/48 - 1
8-133898791-C-G c.1174C>G p.Pro392Ala Missense 9/48 - 1
8-133898791-C-T c.1174C>T p.Pro392Ser Missense 9/48 - 1
8-133898794-G-A c.1177G>A p.Glu393Lys Missense 9/48 - 1
8-133898797-A-AG c.1180_1181insG p.Lys394Argfs*91 Frameshift 9/48 - 1
8-133898800-AGA-TGG c.1183_1185delinsTGG p.Arg395Trp Missense 9/48 - 1
8-133898807-C-T c.1190C>T p.Ala397Val Missense 9/48 - 1
8-133898809-T-C c.1192T>C p.Ser398Pro Missense 9/48 - 1
8-133898813-C-CT c.1196_1197insT p.Arg400Lysfs*85 Frameshift 9/48 - 1
8-133898813-C-A c.1196C>A p.Pro399Gln Missense 9/48 - 1
8-133898824-AG-GC c.1207_1208delinsGC p.Arg403Ala Missense 9/48 - 2
8-133898824-AGA-TGG c.1207_1209delinsTGG p.Arg403Trp Missense 9/48 - 1
8-133898824-AG-CA c.1207_1208delinsCA p.Arg403Gln Missense 9/48 - 10
8-133898824-AG-GA c.1207_1208delinsGA p.Arg403Glu Missense 9/48 - 1
8-133898839-T-C c.1222T>C p.Cys408Arg Missense 9/48 - 1
8-133898839-T-G c.1222T>G p.Cys408Gly Missense 9/48 - 1
8-133898842-C-T c.1225C>T p.Pro409Ser Missense 9/48 - 1
8-133898843-C-T c.1226C>T p.Pro409Leu Missense 9/48 - 1
8-133898848-A-G c.1231A>G p.Thr411Ala Missense 9/48 - 1
8-133898851-A-G c.1234A>G p.Ile412Val Missense 9/48 - 1
8-133898852-AT-A c.1235del p.Ile412Thrfs*67 Frameshift 9/48 - 1
8-133898867-T-C c.1250T>C p.Val417Ala Missense 9/48 - 1
8-133898872-T-G c.1255T>G p.Ser419Ala Missense 9/48 - 1
8-133898881-CT-GG c.1264_1265delinsGG p.Leu422Gly Missense 9/48 - 1
8-133898881-CT-GC c.1264_1265delinsGC p.Leu422Ala Missense 9/48 - 1
8-133898884-CG-GC c.1267_1268delinsGC p.Arg423Ala Missense 9/48 - 1
8-133898886-C-A c.1269C>A p.Arg423Arg Synonymous 9/48 - 1
8-133898886-C-G c.1269C>G p.Arg423Arg Synonymous 9/48 - 1
8-133898886-C-T c.1269C>T p.Arg423Arg Synonymous 9/48 - 1
8-133898900-G-C c.1283G>C p.Gly428Ala Missense 9/48 - 4
8-133898906-G-A c.1289G>A p.Ser430Asn Missense 9/48 - 1
8-133898912-A-G c.1295A>G p.Gln432Arg Missense 9/48 - 1
8-133898917-T-G c.1300T>G p.Ser434Ala Missense 9/48 - 1
8-133898917-T-C c.1300T>C p.Ser434Pro Missense 9/48 - 1
8-133898923-TCA-AAC c.1306_1308delinsAAC p.Ser436Asn Missense 9/48 - 1
8-133898924-C-T c.1307C>T p.Ser436Leu Missense 9/48 - 1
8-133898926-GA-AG c.1309_1310delinsAG p.Glu437Arg Missense 9/48 - 1
8-133898930-A-AA c.1313dup p.Asn438Lysfs*47 Frameshift 9/48 - 1
8-133898932-CT-GC c.1315_1316delinsGC p.Leu439Ala Missense 9/48 - 1
8-133898932-C-T c.1315C>T p.Leu439Phe Missense 9/48 - 1
8-133898944-G-T c.1327G>T p.Ala443Ser Missense 9/48 - 1
8-133898945-C-G c.1328C>G p.Ala443Gly Missense 9/48 - 1
8-133898946-C-CT c.1329_1330insT p.Ile444Tyrfs*41 Frameshift 9/48 - 1
8-133898957-T-A c.1340T>A p.Ile447Asn Missense 9/48 - 1
8-133898961-TT-T c.1344del p.Ser450Profs*29 Frameshift 9/48 - 1
8-133898962-C-A c.1345C>A p.Pro449Thr Missense 9/48 - 1
8-133898965-CT-C c.1348del p.Ser450Profs*29 Frameshift 9/48 - 1
8-133898969-G-A c.1352G>A p.Arg451Gln Missense 9/48 - 5
8-133898974-GCT-G c.1357_1358del p.Leu453Glyfs*31 Frameshift 9/48 - 1
8-133898974-CT-GC c.1357_1358delinsGC p.Leu453Ala Missense 9/48 - 1
8-133898980-CGT-TGG c.1363_1365delinsTGG p.Arg455Trp Missense 9/48 - 1
8-133898980-CG-GC c.1363_1364delinsGC p.Arg455Ala Missense 9/48 - 2
8-133898983-C-T c.1366C>T p.Leu456Phe Missense 9/48 - 2
8-133898987-CC-AG c.1370_1371delinsAG p.Ala457Glu Missense 9/48 - 1
8-133898991-TTC-T c.1374_1375del p.Gln459Valfs*25 Frameshift 9/48 - 1
8-133898995-TT-GC c.1378_1379delinsGC p.Phe460Ala Missense 9/48 - 1
8-133899005-A-T c.1388A>T p.Asn463Ile Missense 9/48 - 1
8-133899006-C-CT c.1389_1390insT p.Pro464Serfs*21 Frameshift 9/48 - 1
8-133899007-C-G c.1390C>G p.Pro464Ala Missense 9/48 - 1
8-133899017-T-C c.1400T>C p.Leu467Pro Missense 9/48 - 3
8-133899018-C-T c.1401C>T p.Leu467Leu Synonymous 9/48 - 1
8-133899018-C-G c.1401C>G p.Leu467Leu Synonymous 9/48 - 1
8-133899018-C-A c.1401C>A p.Leu467Leu Synonymous 9/48 - 1
8-133899025-A-G c.1408A>G p.Asn470Asp Missense 9/48 - 5
8-133899026-A-G c.1409A>G p.Asn470Ser Missense 9/48 - 1
8-133899034-GG-AT c.1417_1418delinsAT p.Gly473Ile Missense 9/48 - 1
8-133899035-G-A c.1418G>A p.Gly473Glu Missense 9/48 - 1
8-133899040-AA-GC c.1423_1424delinsGC p.Lys475Ala Missense 9/48 - 1
8-133899042-A-G c.1425A>G p.Lys475Lys Synonymous 9/48 - 1
8-133899043-T-C c.1426T>C p.Phe476Leu Missense 9/48 - 1
8-133899049-G-A c.1432G>A p.Val478Met Missense 9/48 - 1
8-133899065-T-C c.1448T>C p.Phe483Ser Missense 9/48 - 1
8-133899067-A-G c.1450A>G p.Asn484Asp Missense 9/48 - 1
8-133899072-G-C c.1455G>C p.Leu485Phe Missense 9/48 - 1
8-133899072-G-T c.1455G>T p.Leu485Phe Missense 9/48 - 1
8-133899073-TC-AA c.1456_1457delinsAA p.Ser486Asn Missense 9/48 - 1
8-133899080-C-G c.1463C>G p.Ala488Gly Missense 9/48 - 1
8-133899088-AC-TA c.1471_1472delinsTA p.Thr491* Nonsense 9/48 - 1
8-133899088-ACA-TGT c.1471_1473inv p.Thr491Cys Missense 9/48 - 1
8-133899094-G-A c.1477G>A p.Gly493Ser Missense 9/48 - 1
8-133899097-A-T c.1480A>T p.Thr494Ser Missense 9/48 - 2
8-133899109-AG-GC c.1492_1493delinsGC p.Ser498Ala Missense 9/48 - 1
8-133899112-C-G c.1495C>G p.Gln499Glu Missense 9/48 - 1
8-133899113-CAA-C c.1496_1497del p.Gln499Leufs*37 Frameshift 9/48 - 1
8-133899115-T-C c.1498T>C p.Phe500Leu Missense 9/48 - 1
8-133899127-CT-GC c.1510_1511delinsGC p.Leu504Ala Missense 9/48 - 1
8-133899131-G-A c.1514G>A p.Gly505Asp Missense 9/48 - 2
8-133899133-CT-GC c.1516_1517delinsGC p.Leu506Ala Missense 9/48 - 1
8-133899136-TGCA-T c.1519_1521del p.Ala507del InFrameDeletion 9/48 - 2
8-133899138-CAAG-C c.1521_1523del p.Ser508del InFrameDeletion 9/48 - 1
8-133899139-AG-GC c.1522_1523delinsGC p.Ser508Ala Missense 9/48 - 1
8-133899145-TT-GC c.1528_1529delinsGC p.Leu510Ala Missense 9/48 - 1
8-133899159-A-T c.1542A>T p.Arg514Ser Missense 9/48 - 1
8-133899159-A-C c.1542A>C p.Arg514Ser Missense 9/48 - 1
8-133899163-G-A c.1546G>A p.Glu516Lys Missense 9/48 - 1
8-133899165-AAGA-A c.1548_1550del p.Glu516del InFrameDeletion 9/48 - 1
8-133899166-AGATTTGG-A c.1549_1555del p.Asp517Profs*8 Frameshift 9/48 - 1
8-133899167-A-C c.1550A>C p.Asp517Ala Missense 9/48 - 1
8-133899167-A-G c.1550A>G p.Asp517Gly Missense 9/48 - 1
8-133899172-GC-TT c.1555_1556delinsTT p.Ala519Phe Missense 9/48 - 1
8-133899175-AAG-TTT c.1558_1560delinsTTT p.Lys520Phe Missense 9/48 - 1
8-133899184-T-G c.1567T>G p.Ser523Ala Missense 9/48 - 1
8-133899185-CT-AA c.1568_1569delinsAA p.Ser523* Nonsense 9/48 - 1
8-133899185-C-G c.1568C>G p.Ser523Cys Missense 9/48 - 1
8-133899190-G-C c.1573G>C p.Gly525Arg Missense 9/48 - 2
8-133899190-G-A c.1573G>A p.Gly525Arg Missense 9/48 - 2
8-133899193-T-A c.1576T>A p.Leu526Ile Missense 9/48 - 1
8-133899193-TT-GC c.1576_1577delinsGC p.Leu526Ala Missense 9/48 - 1
8-133899199-T-G c.1582T>G p.Ser528Ala Missense 9/48 - 1
8-133899205-T-A c.1588T>A p.Ser530Thr Missense 9/48 - 1
8-133899208-TC-CT c.1591_1592delinsCT p.Ser531Leu Missense 9/48 - 7
8-133899214-G-C c.1597G>C p.Gly533Arg Missense 9/48 - 1
8-133899214-G-A c.1597G>A p.Gly533Arg Missense 9/48 - 1
8-133899220-C-A c.1603C>A p.Pro535Thr Missense 9/48 - 1
8-133899224-A-C c.1607A>C p.Glu536Ala Missense 9/48 - 1
8-133899227-GC-G c.1610del p.Ala537Valfs*8 Frameshift 9/48 - 1
8-133899229-G-A c.1612G>A p.Ala538Thr Missense 9/48 - 1
8-133899240-T-A c.1623T>A p.Asp541Glu Missense 9/48 - 1
8-133899240-T-G c.1623T>G p.Asp541Glu Missense 9/48 - 1
8-133899241-GGT-TGA c.1624_1626delinsTGA p.Gly542* Nonsense 9/48 - 3
8-133899241-G-T c.1624G>T p.Gly542Cys Missense 9/48 - 4
8-133899246-CTATGAATAAGCCAACTGTGGGCAG-C c.1629_1652del p.Met544_Ser551del InFrameDeletion 9/48 - 1
8-133899249-TG-T c.1632del p.Met544Ilefs*52 Frameshift 9/48 - 1
8-133899261-T-G c.1644T>G p.Thr548Thr Synonymous 9/48 - 1
8-133899263-T-C c.1646T>C p.Val549Ala Missense 9/48 - 1
8-133899269-G-A c.1652G>A p.Ser551Asn Missense 9/48 - 2
8-133899274-GG-AC c.1657_1658delinsAC p.Gly553Thr Missense 9/48 - 2
8-133899289-CT-TC c.1672_1673delinsTC p.Leu558Ser Missense 9/48 - 1
8-133899290-T-C c.1673T>C p.Leu558Pro Missense 9/48 - 2
8-133899295-G-A c.1678G>A p.Glu560Lys Missense 9/48 - 1
8-133899295-AG-A c.1678del p.Glu560Argfs*36 Frameshift 9/48 - 1
8-133899300-C-A c.1683C>A p.Asn561Lys Missense 9/48 - 1
8-133899301-CA-GC c.1684_1685delinsGC p.Gln562Ala Missense 9/48 - 1
8-133899305-A-G c.1688A>G p.Asn563Ser Missense 9/48 - 1
8-133899319-C-G c.1702C>G p.Leu568Val Missense 9/48 - 2
8-133899320-T-C c.1703T>C p.Leu568Pro Missense 9/48 - 1
8-133899322-G-T c.1705G>T p.Ala569Ser Missense 9/48 - 1
8-133899329-T-G c.1712T>G p.Leu571Arg Missense 9/48 - 2
8-133899329-TC-AA c.1712_1713delinsAA p.Leu571Gln Missense 9/48 - 1
8-133899335-GA-G c.1718del p.Glu573Glyfs*23 Frameshift 9/48 - 1
8-133899344-A-C c.1727A>C p.Glu576Ala Missense 9/48 - 1
8-133899349-CCTTCTCTTC-C c.1732_1740del p.Leu579_Leu581del InFrameDeletion 9/48 - 1
8-133899350-T-C c.1733T>C p.Leu578Pro Missense 9/48 - 1
8-133899354-TC-T c.1737del p.Phe580Serfs*16 Frameshift 9/48 - 1
8-133899356-T-A c.1739T>A p.Phe580Tyr Missense 9/48 - 1
8-133899367-TGCTAT-T c.1750_1754del p.Ala584Leufs*12 Frameshift 9/48 - 1
8-133899389-T-C c.1772T>C p.Val591Ala Missense 9/48 - 2
8-133899394-AG-GC c.1777_1778delinsGC p.Arg593Ala Missense 9/48 - 1
8-133899394-AGA-TGT c.1777_1779delinsTGT p.Arg593Cys Missense 9/48 - 2
8-133899395-G-GG c.1778dup p.Asp594Argfs*4 Frameshift 9/48 - 1
8-133899400-TT-GC c.1783_1784delinsGC p.Leu595Ala Missense 9/48 - 2
8-133899401-T-C c.1784T>C p.Leu595Ser Missense 9/48 - 1
8-133899404-G-T c.1787G>T p.Gly596Val Missense 9/48 - 1
8-133899404-G-C c.1787G>C p.Gly596Ala Missense 9/48 - 2
8-133899404-G-A c.1787G>A p.Gly596Asp Missense 9/48 - 1
8-133899410-T-C c.1793T>C p.Val598Ala Missense 9/48 - 1
8-133899415-GAA-TGG c.1798_1800delinsTGG p.Glu600Trp Missense 9/48 - 2
8-133899423-A-G c.1806A>G p.Val602Val Synonymous 9/48 - 1
8-133899427-AG-GC c.1810_1811delinsGC p.Ser604Ala Missense 9/48 - 1
8-133899446-CAGA-C c.1829_1831del p.Gln610_Thr611delinsPro MultiAAMissense 9/48 - 1
8-133899451-C-T c.1834C>T p.Pro612Ser Missense 9/48 - 1
8-133899460-CT-GC c.1843_1844delinsGC p.Leu615Ala Missense 9/48 - 6
8-133899460-C-T c.1843C>T p.Leu615Leu Synonymous 9/48 - 1
8-133899461-T-C c.1844T>C p.Leu615Pro Missense 9/48 - 1
8-133899464-T-G c.1847T>G p.Phe616Cys Missense 9/48 - 1
8-133899466-G-T c.1849G>T p.Val617Phe Missense 9/48 - 6
8-133899473-C-T c.1856C>T p.Ser619Leu Missense 9/48 - 2
8-133899475-T-G c.1858T>G p.Cys620Gly Missense 9/48 - 1
8-133899475-T-A c.1858T>A p.Cys620Ser Missense 9/48 - 1
8-133899475-T-C c.1858T>C p.Cys620Arg Missense 9/48 - 1
8-133899476-G-C c.1859G>C p.Cys620Ser Missense 9/48 - 1
8-133899476-G-A c.1859G>A p.Cys620Tyr Missense 9/48 - 1
8-133899476-G-T c.1859G>T p.Cys620Phe Missense 9/48 - 2
8-133899477-C-G c.1860C>G p.Cys620Trp Missense 9/48 - 1
8-133899478-A-T c.1861A>T p.Thr621Ser Missense 9/48 - 1
8-133899481-ACA-TGT c.1864_1866inv p.Thr622Cys Missense 9/48 - 1
8-133899484-G-A c.1867G>A p.Glu623Lys Missense 9/48 - 1
8-133899488-G-A c.1871G>A p.Gly624Glu Missense 9/48 - 1
8-133899494-A-T c.1877A>T p.Tyr626Phe Missense 9/48 - 1
8-133899503-GT-G c.1886del p.Val629Alafs*11 Frameshift 9/48 - 1
8-133899504-C-G c.1887C>G p.Val629Val Synonymous 9/48 - 1
8-133899504-C-A c.1887C>A p.Val629Val Synonymous 9/48 - 1
8-133899504-C-T c.1887C>T p.Val629Val Synonymous 9/48 - 1
8-133899505-C-T c.1888C>T p.Gln630* Nonsense 9/48 - 1
8-133899508-T-C c.1891T>C p.Cys631Arg Missense 9/48 - 1
8-133899517-G-C c.1900G>C p.Gly634Arg Missense 9/48 - 1
8-133899517-G-A c.1900G>A p.Gly634Arg Missense 9/48 - 1
8-133899517-GGA-TGT c.1900_1902delinsTGT p.Gly634Cys Missense 9/48 - 1
8-133899518-GGAG-G c.1901_1903del p.Gly634del InFrameDeletion 9/48 - 1
8-133899524-G-A c.1907G>A p.Cys636Tyr Missense 9/48 - 1
8-133899524-G-T c.1907G>T p.Cys636Phe Missense 9/48 - 1
8-133899527-G-A c.1910G>A p.Trp637* Nonsense 9/48 - 1
8-133899528-G-A c.1911G>A p.Trp637* Nonsense 9/48 - 1
8-133899538-T-C c.1921T>C p.Ser641Pro Missense 9/48 - 1
8-133899544-GGC-TGA c.1927_1929delinsTGA p.Gly643* Nonsense 9/48 - 1
8-133899544-G-T c.1927G>T p.Gly643Cys Missense 9/48 - 1
8-133899551-A-AA c.1934dup p.Leu646Alafs*18 Frameshift 9/48 - 1
8-133899553-C-A c.1936C>A p.Leu646Ile Missense 9/48 - 1
8-133899553-C-T c.1936C>T p.Leu646Phe Missense 9/48 - 1
8-133899563-CA-TT c.1946_1947delinsTT p.Ser649Phe Missense 9/48 - 1
8-133899565-AG-GC c.1948_1949delinsGC p.Arg650Ala Missense 9/48 - 1
8-133899578-GA-AC c.1961_1962delinsAC p.Gly654Asp Missense 9/48 - 1
8-133899580-C-T c.1963C>T p.Gln655* Nonsense 9/48 - 1
8-133899589-TG-AC c.1972_1973delinsAC p.Cys658Thr Missense 9/48 - 1
8-133899596-CA-TG c.1979_1980inv p.Thr660Met Missense 9/48 - 1
8-133899613-A-G c.1996A>G p.Arg666Gly Missense 9/48 - 1
8-133899619-C-T c.2002C>T p.Arg668Cys Missense 9/48 - 7
8-133899638-G-C c.2021G>C p.Gly674Ala Missense 9/48 - 1
8-133899649-TGCTGGCTCCACCT-T c.2032_2044del p.Ala678Cysfs*39 Frameshift 9/48 - 1
8-133899652-G-C c.2035G>C p.Gly679Arg Missense 9/48 - 1
8-133899653-G-C c.2036G>C p.Gly679Ala Missense 9/48 - 1
8-133899655-TC-AA c.2038_2039delinsAA p.Ser680Asn Missense 9/48 - 1
8-133899657-CC-C c.2040del p.Thr681Profs*40 Frameshift 9/48 - 1
8-133899658-AC-GG c.2041_2042delinsGG p.Thr681Gly Missense 9/48 - 1
8-133899669-C-CA c.2052_2053insA p.Pro685Thrfs*5 Frameshift 9/48 - 3
8-133899671-C-T c.2054C>T p.Pro685Leu Missense 9/48 - 3
8-133899671-C-CC c.2054dup p.Ala686Cysfs*4 Frameshift 9/48 - 1
8-133899671-CC-C c.2054del p.Pro685Leufs*36 Frameshift 9/48 - 1
8-133899677-TG-T c.2060del p.Cys687Leufs*34 Frameshift 9/48 - 1
8-133899685-G-T c.2068G>T p.Glu690* Nonsense 9/48 - 1
8-133899697-CT-GC c.2080_2081delinsGC p.Leu694Ala Missense 9/48 - 1
8-133899711-C-G c.2094C>G p.Cys698Trp Missense 9/48 - 1
8-133899717-C-T c.2100C>T p.Asn700Asn Synonymous 9/48 - 1
8-133899735-TTG-T c.2118_2119del p.Asp707Cysfs*2 Frameshift 9/48 - 1
8-133899737-A-T c.2120A>T p.Asp707Val Missense 9/48 - 1
8-133899742-G-C c.2125G>C p.Glu709Gln Missense 9/48 - 1
8-133899743-GAGGG-G c.2126_2129del p.Glu709Valfs*11 Frameshift 9/48 - 1
8-133899745-G-A c.2128G>A p.Gly710Ser Missense 9/48 - 1
8-133899746-GT-AG c.2129_2130delinsAG p.Gly710Glu Missense 9/48 - 1
8-133899765-CTC-C c.2148_2149del p.Arg717Lysfs*18 Frameshift 9/48 - 1
8-133899773-C-G c.2156C>G p.Ala719Gly Missense 9/48 - 10
8-133899779-G-C c.2162G>C p.Gly721Ala Missense 9/48 - 2
8-133899792-A-AA c.2175dup p.Cys726Metfs*10 SpliceDonorInsertion 9/48 - 2
8-133900231-C-T c.2179C>T p.Pro727Ser Missense 10/48 - 1
8-133900235-C-A c.2183C>A p.Thr728Lys Missense 10/48 - 1
8-133900239-CCTGTCAATTAC-C c.2187_2197del p.Cys730Valfs*2 Frameshift 10/48 - 2
8-133900247-T-G c.2195T>G p.Leu732* Nonsense 10/48 - 3
8-133900252-T-C c.2200T>C p.Ser734Pro Missense 10/48 - 6
8-133900252-T-A c.2200T>A p.Ser734Thr Missense 10/48 - 7
8-133900252-T-G c.2200T>G p.Ser734Ala Missense 10/48 - 6
8-133900270-AG-TA c.2218_2219delinsTA p.Arg740* Nonsense 10/48 - 1
8-133900272-G-T c.2220G>T p.Arg740Ser Missense 10/48 - 1
8-133900272-G-C c.2220G>C p.Arg740Ser Missense 10/48 - 1
8-133900282-GG-G c.2230del p.Ala744Profs*54 Frameshift 10/48 - 1
8-133900285-CT-GC c.2233_2234delinsGC p.Leu745Ala Missense 10/48 - 1
8-133900286-T-C c.2234T>C p.Leu745Pro Missense 10/48 - 1
8-133900292-CT-AA c.2240_2241delinsAA p.Ser747* Nonsense 10/48 - 1
8-133900293-T-TT c.2241dup p.Asn748* Nonsense 10/48 - 1
8-133900302-GCATGCTACCCACCCTTTCCGACACC-G c.2250_2274del p.Met751Thrfs*39 Frameshift 10/48 - 1
8-133900303-CATG-C c.2251_2253del p.Met751del InFrameDeletion 10/48 - 1
8-133900306-CT-TC c.2254_2255delinsTC p.Leu752Ser Missense 10/48 - 1
8-133900327-TA-GC c.2275_2276delinsGC p.Tyr759Ala Missense 10/48 - 3
8-133900327-TAC-GAG c.2275_2277delinsGAG p.Tyr759Glu Missense 10/48 - 1
8-133900328-A-T c.2276A>T p.Tyr759Phe Missense 10/48 - 1
8-133900345-A-G c.2293A>G p.Thr765Ala Missense 10/48 - 1
8-133900351-GGG-TGT c.2299_2301delinsTGT p.Gly767Cys Missense 10/48 - 1
8-133900352-GG-AC c.2300_2301delinsAC p.Gly767Asp Missense 10/48 - 1
8-133900366-G-A c.2314G>A p.Val772Met Missense 10/48 - 1
8-133900371-AA-A c.2319del p.Gln773Hisfs*25 Frameshift 10/48 - 1
8-133900386-T-C c.2334T>C p.Pro778Pro Synonymous 10/48 - 5
8-133900390-C-A c.2338C>A p.Gln780Lys Missense 10/48 - 1
8-133900406-A-T c.2354A>T p.Tyr785Phe Missense 10/48 - 1
8-133900439-A-AC c.2387_2388insC p.Leu797Serfs*30 Frameshift 10/48 - 1
8-133900439-A-T c.2387A>T p.Asp796Val Missense 10/48 - 1
8-133900444-A-G c.2392A>G p.Thr798Ala Missense 10/48 - 2
8-133900451-C-G c.2399C>G p.Ala800Gly Missense 10/48 - 1
8-133900456-CT-GC c.2404_2405delinsGC p.Leu802Ala Missense 10/48 - 2
8-133900462-G-A c.2410G>A p.Val804Met Missense 10/48 - 1
8-133900462-G-C c.2410G>C p.Val804Leu Missense 10/48 - 1
8-133900462-G-T c.2410G>T p.Val804Leu Missense 10/48 - 1
8-133900465-AA-GC c.2413_2414delinsGC p.Lys805Ala Missense 10/48 - 1
8-133900468-GA-G c.2416del p.Ile806Serfs*2 Frameshift 10/48 - 1
8-133900531-G-A c.2479G>A p.Ala827Thr Missense 10/48 - 1
8-133900543-G-T c.2491G>T p.Asp831Tyr Missense 10/48 - 1
8-133900549-CTTCC-C c.2497_2500del p.Phe833Argfs*14 Frameshift 10/48 - 1
8-133900561-GT-G c.2509del p.Ser837Hisfs*11 Frameshift 10/48 - 1
8-133900582-G-A c.2530G>A p.Asp844Asn Missense 10/48 - 1
8-133900594-G-T c.2542G>T p.Ala848Ser Missense 10/48 - 1
8-133900624-AG-CT c.2572_2573inv p.Arg858Leu Missense 10/48 - 1
8-133900636-CC-C c.2584del p.Leu862Serfs*11 Frameshift 10/48 - 1
8-133900641-TGGAGCCCTACC-T c.2589_2599del p.Glu864Leufs*27 Frameshift 10/48 - 2
8-133900645-C-A c.2593C>A p.Pro865Thr Missense 10/48 - 1
8-133900653-C-CG c.2601_2602insG p.Phe868Valfs*27 Frameshift 10/48 - 1
8-133900662-G-T c.2610G>T p.Gln870His Missense 10/48 - 1
8-133900691-CCGGGGTCCTAC-C c.2639_2649del p.Pro880Leufs*11 Frameshift 10/48 - 1
8-133900706-A-C c.2654A>C p.Asp885Ala Missense 10/48 - 1
8-133900739-G-A c.2687G>A p.Arg896Gln Missense 10/48 - 1
8-133900745-G-A c.2693G>A p.Cys898Tyr Missense 10/48 - 1
8-133900750-TG-GC c.2698_2699delinsGC p.Cys900Ala Missense 10/48 - 1
8-133900757-A-G c.2705A>G p.Asp902Gly Missense 10/48 - 1
8-133900770-AA-A c.2718del p.Glu907Asnfs*59 Frameshift 10/48 - 1
8-133900771-G-C c.2719G>C p.Glu907Gln Missense 10/48 - 1
8-133900787-G-C c.2735G>C p.Arg912Pro Missense 10/48 - 1
8-133900796-C-T c.2744C>T p.Pro915Leu Missense 10/48 - 1
8-133900798-AG-GC c.2746_2747delinsGC p.Ser916Ala Missense 10/48 - 1
8-133905934-G-A c.2762-1G>A - IntronicSNV - 10/47 1
8-133905941-G-T c.2768G>T p.Gly923Val Missense 11/48 - 1
8-133905949-G-T c.2776G>T p.Glu926* Nonsense 11/48 - 1
8-133906007-C-T c.2834C>T p.Ala945Val Missense 11/48 - 1
8-133906018-TC-GA c.2845_2846inv p.Ser949Asp Missense 11/48 - 1
8-133906018-T-G c.2845T>G p.Ser949Ala Missense 11/48 - 1
8-133906027-CC-TG c.2854_2855delinsTG p.Pro952Cys Missense 11/48 - 1
8-133906030-CTG-TGT c.2857_2859delinsTGT p.Leu953Cys Missense 11/48 - 1
8-133906036-G-T c.2863G>T p.Glu955* Nonsense 11/48 - 1
8-133906036-G-C c.2863G>C p.Glu955Gln Missense 11/48 - 1
8-133906036-G-A c.2863G>A p.Glu955Lys Missense 11/48 - 1
8-133906037-GA-G c.2864del p.Glu955Glyfs*11 Frameshift 11/48 - 1
8-133906048-GG-G c.2875del p.Val959Trpfs*7 Frameshift 11/48 - 1
8-133906058-GG-G c.2885del p.Gly962Glufs*4 Frameshift 11/48 - 1
8-133906084-G-A c.2911G>A p.Gly971Ser Missense 11/48 - 1
8-133906084-G-C c.2911G>C p.Gly971Arg Missense 11/48 - 1
8-133906096-C-G c.2923C>G p.Leu975Val Missense 11/48 - 1
8-133906099-TT-GC c.2926_2927delinsGC p.Phe976Ala Missense 11/48 - 1
8-133906103-C-T c.2930C>T p.Pro977Leu Missense 11/48 - 2
8-133906132-C-T c.2959C>T p.Leu987Leu Synonymous 11/48 - 1
8-133906150-G-A c.2977G>A p.Ala993Thr Missense 11/48 - 1
8-133906152-C-T c.2979C>T p.Ala993Ala Synonymous 11/48 - 1
8-133906152-C-G c.2979C>G p.Ala993Ala Synonymous 11/48 - 1
8-133906152-C-A c.2979C>A p.Ala993Ala Synonymous 11/48 - 1
8-133906159-CT-GC c.2986_2987delinsGC p.Leu996Ala Missense 11/48 - 1
8-133906161-G-A c.2988G>A p.Leu996Leu Synonymous 11/48 - 1
8-133906164-G-C c.2991G>C p.Ala997Ala Synonymous 11/48 - 2
8-133906165-G-A c.2992G>A p.Ala998Thr Missense 11/48 - 1
8-133906166-C-T c.2993C>T p.Ala998Val Missense 11/48 - 1
8-133909899-AG-GC c.3007_3008delinsGC p.Ser1003Ala Missense 12/48 - 1
8-133909899-AGC-GAG c.3007_3009delinsGAG p.Ser1003Glu Missense 12/48 - 1
8-133909927-C-T c.3035C>T p.Pro1012Leu Missense 12/48 - 1
8-133909959-GCGGTCG-G c.3067_3072del p.Arg1023_Ser1024del InFrameDeletion 12/48 - 1
8-133909968-CCC-TAA c.3076_3078delinsTAA p.Pro1026* Nonsense 12/48 - 1
8-133909974-A-G c.3082A>G p.Met1028Val Missense 12/48 - 8
8-133909980-C-T c.3088C>T p.Gln1030* Nonsense 12/48 - 1
8-133910388-A-G c.3140-26A>G - IntronicSNV - 12/47 2
8-133910425-TG-AC c.3151_3152delinsAC p.Cys1051Thr Missense 13/48 - 1
8-133910427-T-A c.3153T>A p.Cys1051* Nonsense 13/48 - 1
8-133910432-A-G c.3158A>G p.Asp1053Gly Missense 13/48 - 1
8-133910440-G-A c.3166G>A p.Gly1056Arg Missense 13/48 - 1
8-133910444-GG-AC c.3170_3171delinsAC p.Gly1057Asp Missense 13/48 - 1
8-133910455-G-C c.3181G>C p.Gly1061Arg Missense 13/48 - 1
8-133910470-C-T c.3196C>T p.Arg1066Cys Missense 13/48 - 2
8-133910470-C-A c.3196C>A p.Arg1066Ser Missense 13/48 - 1
8-133910471-G-A c.3197G>A p.Arg1066His Missense 13/48 - 2
8-133910471-G-T c.3197G>T p.Arg1066Leu Missense 13/48 - 1
8-133910479-C-T c.3205C>T p.Gln1069* Nonsense 13/48 - 1
8-133911054-T-C c.3229T>C p.Cys1077Arg Missense 14/48 - 1
8-133911091-G-A c.3266G>A p.Trp1089* Nonsense 14/48 - 3
8-133911151-T-G c.3326T>G p.Leu1109Arg Missense 14/48 - 1
8-133912483-C-G c.3332C>G p.Thr1111Arg Missense 15/48 - 1
8-133912494-GC-CG c.3343_3344delinsCG p.Ala1115Arg Missense 15/48 - 1
8-133912500-CTG-TTT c.3349_3351delinsTTT p.Leu1117Phe Missense 15/48 - 1
8-133912523-C-G c.3372C>G p.Thr1124Thr Synonymous 15/48 - 1
8-133912534-A-C c.3383A>C p.Asp1128Ala Missense 15/48 - 1
8-133912550-AA-A c.3399del p.Glu1134Serfs*70 Frameshift 15/48 - 1
8-133912564-GGC-G c.3413_3414del p.Gly1138Valfs*44 Frameshift 15/48 - 1
8-133912567-C-T c.3416C>T p.Ser1139Leu Missense 15/48 - 2
8-133913599-C-T c.3435C>T p.Cys1145Cys Synonymous 16/48 - 6
8-133913621-A-T c.3457A>T p.Lys1153* Nonsense 16/48 - 1
8-133913649-G-T c.3485G>T p.Ser1162Ile Missense 16/48 - 2
8-133913693-TT-T c.3529del p.Ser1177Profs*27 Frameshift 16/48 - 1
8-133913697-C-T c.3533C>T p.Pro1178Leu Missense 16/48 - 2
8-133913702-C-T c.3538C>T p.Gln1180* Nonsense 16/48 - 1
8-133913753-G-T c.3589G>T p.Glu1197* Nonsense 16/48 - 1
8-133913760-C-T c.3596C>T p.Pro1199Leu Missense 16/48 - 1
8-133913768-CGC-GAG c.3604_3606delinsGAG p.Arg1202Glu Missense 16/48 - 1
8-133913768-CG-GC c.3604_3605delinsGC p.Arg1202Ala Missense 16/48 - 1
8-133913769-GC-AA c.3605_3606delinsAA p.Arg1202Gln Missense 16/48 - 1
8-133913788-C-A c.3624C>A p.Pro1208Pro Synonymous 16/48 - 1
8-133917588-G-A c.3635-1345G>A - IntronicSNV - 16/47 1
8-133918945-C-T c.3647C>T p.Pro1216Leu Missense 17/48 - 1
8-133918998-A-G c.3700A>G p.Ile1234Val Missense 17/48 - 2
8-133919001-TC-AG c.3703_3704delinsAG p.Ser1235Arg Missense 17/48 - 2
8-133919017-C-T c.3719C>T p.Ser1240Phe Missense 17/48 - 1
8-133919031-TG-AC c.3733_3734delinsAC p.Cys1245Thr Missense 17/48 - 1
8-133919031-T-C c.3733T>C p.Cys1245Arg Missense 17/48 - 1
8-133919031-T-G c.3733T>G p.Cys1245Gly Missense 17/48 - 2
8-133919057-C-A c.3759C>A p.Ser1253Ser Synonymous 17/48 - 1
8-133919061-AGC-TGA c.3763_3765delinsTGA p.Ser1255* Nonsense 17/48 - 1
8-133919061-AG-CT c.3763_3764inv p.Ser1255Leu Missense 17/48 - 1
8-133919063-C-A c.3765C>A p.Ser1255Arg Missense 17/48 - 1
8-133919071-C-CT c.3773_3774insT p.Pro1259Thrfs*7 Frameshift 17/48 - 1
8-133919077-GG-AC c.3779_3780delinsAC p.Gly1260Asp Missense 17/48 - 1
8-133919088-T-C c.3790T>C p.Cys1264Arg Missense 17/48 - 1
8-133919097-G-A c.3799G>A p.Glu1267Lys Missense 17/48 - 1
8-133919114-AGT-A c.3816_3817del p.Glu1272Aspfs*37 Frameshift 17/48 - 1
8-133920411-T-C c.3848-20T>C - IntronicSNV - 17/47 1
8-133920454-C-T c.3871C>T p.Gln1291* Nonsense 18/48 - 1
8-133920492-C-G c.3909C>G p.Gly1303Gly Synonymous 18/48 - 4
8-133920496-A-T c.3913A>T p.Met1305Leu Missense 18/48 - 1
8-133920496-A-C c.3913A>C p.Met1305Leu Missense 18/48 - 1
8-133920508-GA-AG c.3925_3926delinsAG p.Asp1309Ser Missense 18/48 - 1
8-133920518-A-G c.3935A>G p.Asp1312Gly Missense 18/48 - 2
8-133920559-ACA-TGT c.3976_3978inv p.Thr1326Cys Missense 18/48 - 1
8-133920562-G-A c.3979G>A p.Ala1327Thr Missense 18/48 - 1
8-133920562-AG-A c.3979del p.Ala1327Profs*9 Frameshift 18/48 - 1
8-133920569-G-C c.3986G>C p.Gly1329Ala Missense 18/48 - 5
8-133920577-C-T c.3994C>T p.Gln1332* Nonsense 18/48 - 1
8-133921827-G-T c.4002+1242G>T - IntronicSNV - 18/47 1
8-133923629-CT-GG c.4010_4011delinsGG p.Thr1337Arg Missense 19/48 - 1
8-133923670-T-G c.4051T>G p.Ser1351Ala Missense 19/48 - 1
8-133923670-TCT-GAG c.4051_4053delinsGAG p.Ser1351Glu Missense 19/48 - 1
8-133923676-C-T c.4057C>T p.Gln1353* Nonsense 19/48 - 1
8-133923690-G-A c.4071G>A p.Leu1357Leu Synonymous 19/48 - 1
8-133923712-A-T c.4093A>T p.Asn1365Tyr Missense 19/48 - 1
8-133923763-G-A c.4144G>A p.Asp1382Asn Missense 19/48 - 1
8-133925296-GAG-G c.4164_4165del p.Arg1388Serfs*63 SpliceAcceptorDeletion 20/48 - 1
8-133925307-G-C c.4175G>C p.Gly1392Ala Missense 20/48 - 1
8-133925309-A-T c.4177A>T p.Lys1393* Nonsense 20/48 - 1
8-133925325-G-A c.4193G>A p.Arg1398His Missense 20/48 - 1
8-133925333-G-A c.4201G>A p.Asp1401Asn Missense 20/48 - 1
8-133925355-T-C c.4223T>C p.Phe1408Ser Missense 20/48 - 1
8-133925366-C-T c.4234C>T p.Leu1412Leu Synonymous 20/48 - 1
8-133925377-AGA-A c.4245_4246del p.Lys1415Asnfs*36 Frameshift 20/48 - 1
8-133925388-C-CC c.4256dup p.Glu1420Glyfs*32 Frameshift 20/48 - 1
8-133925426-CACCTCT-C c.4294_4299del p.Thr1432_Ser1433del InFrameDeletion 20/48 - 1
8-133925498-G-A c.4366G>A p.Gly1456Arg Missense 20/48 - 1
8-133925510-G-A c.4378G>A p.Val1460Ile Missense 20/48 - 1
8-133929917-C-T c.4379-1704C>T - IntronicSNV - 20/47 1
8-133930184-T-C c.4379-1437T>C - IntronicSNV - 20/47 1
8-133931719-TG-AC c.4477_4478delinsAC p.Cys1493Thr Missense 21/48 - 1
8-133931723-C-T c.4481C>T p.Pro1494Leu Missense 21/48 - 1
8-133931735-C-T c.4493C>T p.Thr1498Met Missense 21/48 - 2
8-133931748-T-C c.4506T>C p.Ala1502Ala Synonymous 21/48 - 2
8-133935605-C-A c.4551C>A p.Asn1517Lys Missense 22/48 - 1
8-133935642-C-G c.4588C>G p.Arg1530Gly Missense 22/48 - 1
8-133935642-C-T c.4588C>T p.Arg1530* Nonsense 22/48 - 1
8-133935658-A-G c.4604A>G p.Asp1535Gly Missense 22/48 - 1
8-133941400-TT-T c.4779del p.Pro1594Leufs*7 Frameshift 23/48 - 1
8-133941416-C-T c.4795C>T p.Pro1599Ser Missense 23/48 - 1
8-133945816-AGGA-A c.4827_4829del p.Glu1609del InFrameDeletion 24/48 - 1
8-133945848-C-T c.4859C>T p.Thr1620Met Missense 24/48 - 1
8-133948088-C-A c.5020C>A p.Pro1674Thr Missense 25/48 - 1
8-133951991-G-C c.5042-1605G>C - IntronicSNV - 25/47 1
8-133951991-G-A c.5042-1605G>A - IntronicSNV - 25/47 1
8-133953594-A-G c.5042-2A>G - IntronicSNV - 25/47 1
8-133953602-G-C c.5048G>C p.Gly1683Ala Missense 26/48 - 1
8-133953655-C-T c.5101C>T p.Leu1701Phe Missense 26/48 - 1
8-133953732-TT-T c.5178del p.Ala1727Hisfs*26 Frameshift 26/48 - 1
8-133953766-G-A c.5212G>A p.Val1738Ile Missense 26/48 - 2
8-133953770-T-G c.5216T>G p.Leu1739Arg Missense 26/48 - 1
8-133960991-C-T c.5234-30C>T - IntronicSNV - 26/47 1
8-133960991-C-A c.5234-30C>A - IntronicSNV - 26/47 1
8-133960991-C-G c.5234-30C>G - IntronicSNV - 26/47 1
8-133961071-G-A c.5284G>A p.Val1762Ile Missense 27/48 - 1
8-133961111-C-G c.5324C>G p.Ala1775Gly Missense 27/48 - 1
8-133961143-A-G c.5356A>G p.Ser1786Gly Missense 27/48 - 1
8-133961159-TT-T c.5372del p.Leu1791Cysfs*12 Frameshift 27/48 - 1
8-133961190-T-C c.5401+2T>C - IntronicSNV - 27/47 1
8-133973279-G-C c.5428G>C p.Asp1810His Missense 28/48 - 1
8-133975244-G-A c.5473G>A p.Asp1825Asn Missense 29/48 - 1
8-133975283-G-A c.5512G>A p.Asp1838Asn Missense 29/48 - 6
8-133975290-GTGCCAAGGCCAGCATCTCCAACAGAAG-G c.5519_5545del p.Val1840_Glu1848del InFrameDeletion 29/48 - 1
8-133978938-T-G c.5682T>G p.Leu1894Leu Synonymous 30/48 - 1
8-133978938-T-C c.5682T>C p.Leu1894Leu Synonymous 30/48 - 1
8-133978938-T-A c.5682T>A p.Leu1894Leu Synonymous 30/48 - 1
8-133979111-A-G c.5686+169A>G - IntronicSNV - 30/47 1
8-133980042-G-A c.5690G>A p.Cys1897Tyr Missense 31/48 - 1
8-133980073-A-T c.5721A>T p.Ala1907Ala Synonymous 31/48 - 1
8-133980073-A-C c.5721A>C p.Ala1907Ala Synonymous 31/48 - 1
8-133980073-A-G c.5721A>G p.Ala1907Ala Synonymous 31/48 - 1
8-133980087-G-A c.5735G>A p.Ser1912Asn Missense 31/48 - 1
8-133980143-A-G c.5791A>G p.Ile1931Val Missense 31/48 - 2
8-133980159-C-G c.5807C>G p.Ala1936Gly Missense 31/48 - 1
8-133980185-C-T c.5833C>T p.Gln1945* Nonsense 31/48 - 1
8-133981505-C-T c.5864-198C>T - IntronicSNV - 31/47 1
8-133981760-T-C c.5921T>C p.Met1974Thr Missense 32/48 - 1
8-133984049-T-A c.5986T>A p.Cys1996Ser Missense 33/48 - 1
8-133984058-C-T c.5995C>T p.Arg1999Trp Missense 33/48 - 4
8-133984110-CA-C c.6047del p.Gln2016Argfs*2 Frameshift 33/48 - 1
8-133984917-C-T c.6130C>T p.Arg2044Cys Missense 34/48 - 1
8-133984924-T-C c.6137T>C p.Leu2046Ser Missense 34/48 - 1
8-133984972-G-A c.6185G>A p.Trp2062* Nonsense 34/48 - 1
8-134021388-C-T c.6263-2758C>T - IntronicSNV - 35/47 1
8-134024175-C-T c.6292C>T p.Leu2098Phe Missense 36/48 - 1
8-134024206-G-A c.6323G>A p.Arg2108Lys Missense 36/48 - 1
8-134025949-GC-G c.6502del p.Gln2168Argfs*82 Frameshift 37/48 - 1
8-134025973-C-T c.6526C>T p.Leu2176Phe Missense 37/48 - 1
8-134026000-C-T c.6553C>T p.Arg2185Trp Missense 37/48 - 1
8-134027588-A-G c.6562+1579A>G - IntronicSNV - 37/47 2
8-134030053-T-C c.6593T>C p.Val2198Ala Missense 38/48 - 1
8-134030104-C-A c.6644C>A p.Ala2215Asp Missense 38/48 - 1
8-134030161-C-A c.6701C>A p.Ala2234Asp Missense 38/48 - 1
8-134030185-G-A c.6725G>A p.Arg2242His Missense 38/48 - 1
8-134030243-GG-G c.6782+1del - IntronicDeletion - 38/47 1
8-134031856-C-G c.6792C>G p.Cys2264Trp Missense 39/48 - 1
8-134031894-T-C c.6830T>C p.Val2277Ala Missense 39/48 - 1
8-134031908-TTTGT-T c.6844_6847del p.Leu2282Ilefs*61 Frameshift 39/48 - 1
8-134031914-C-T c.6850C>T p.Leu2284Phe Missense 39/48 - 1
8-134031917-A-G c.6853A>G p.Asn2285Asp Missense 39/48 - 1
8-134034361-C-T c.7002C>T p.Ser2334Ser Synonymous 40/48 - 1
8-134034366-G-A c.7007G>A p.Arg2336Gln Missense 40/48 - 1
8-134034380-G-A c.7021G>A p.Gly2341Ser Missense 40/48 - 1
8-134034386-CC-C c.7027del p.Leu2343* Frameshift 40/48 - 1
8-134042144-G-C c.7115G>C p.Gly2372Ala Missense 41/48 - 1
8-134042152-G-A c.7123G>A p.Gly2375Arg Missense 41/48 - 2
8-134042211-C-G c.7182C>G p.Ile2394Met Missense 41/48 - 2
8-134107300-C-T c.7252C>T p.Leu2418Phe Missense 42/48 - 1
8-134107407-C-T c.7359C>T p.Cys2453Cys Synonymous 42/48 - 1
8-134107412-G-A c.7364G>A p.Arg2455His Missense 42/48 - 1
8-134108463-AGTGGCCCTTT-A c.7418_7427del p.Ser2473Thrfs*7 Frameshift 43/48 - 1
8-134108579-C-T c.7534C>T p.Gln2512* Nonsense 43/48 - 1
8-134122696-A-G c.7573-2970A>G - IntronicSNV - 43/47 2
8-134122696-A-T c.7573-2970A>T - IntronicSNV - 43/47 2
8-134124914-C-T c.7573-752C>T - IntronicSNV - 43/47 1
8-134125029-G-A c.7573-637G>A - IntronicSNV - 43/47 1
8-134125682-G-A c.7589G>A p.Arg2530Gln Missense 44/48 - 2
8-134125736-G-C c.7643G>C p.Gly2548Ala Missense 44/48 - 9
8-134125765-G-T c.7672G>T p.Ala2558Ser Missense 44/48 - 1
8-134125846-C-T c.7753C>T p.Arg2585Trp Missense 44/48 - 2
8-134128897-G-A c.7799G>A p.Trp2600* Nonsense 45/48 - 1
8-134128945-A-T c.7847A>T p.Asn2616Ile Missense 45/48 - 4
8-134128945-A-G c.7847A>G p.Asn2616Ser Missense 45/48 - 1
8-134128946-C-G c.7848C>G p.Asn2616Lys Missense 45/48 - 1
8-134128946-C-A c.7848C>A p.Asn2616Lys Missense 45/48 - 1
8-134134673-C-T c.7862+5713C>T - IntronicSNV - 45/47 1
8-134140546-C-T c.7863-3510C>T - IntronicSNV - 45/47 1
8-134144113-C-T c.7920C>T p.Tyr2640Tyr Synonymous 46/48 - 2
8-134144113-C-A c.7920C>A p.Tyr2640* Nonsense 46/48 - 2
8-134145512-G-A c.7998-202G>A - IntronicSNV - 46/47 1
8-134145718-C-T c.8002C>T p.Pro2668Ser Missense 47/48 - 1
8-134145770-G-A c.8054G>A p.Trp2685* Nonsense 47/48 - 1
8-134146967-ACG-TGT c.8236_8238delinsTGT p.Thr2746Cys Missense 48/48 - 1
8-134146971-C-G c.8240C>G p.Ala2747Gly Missense 48/48 - 1
8-134146974-G-C c.8243G>C p.Gly2748Ala Missense 48/48 - 1
8-134146993-T-G c.8262T>G p.Asp2754Glu Missense 48/48 - 1