CD4 CD4 molecule

Canonical transcript: NM_000616

850 unique variant annotations were identified in 1512 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-6899181-T-G c.-68+353T>G - intron_variant - 1/9 3
12-6901082-G-C c.-68+2254G>C - intron_variant - 1/9 1
12-6901082-G-A c.-68+2254G>A - intron_variant - 1/9 1
12-6901134-C-T c.-68+2306C>T - intron_variant - 1/9 3
12-6901134-C-A c.-68+2306C>A - intron_variant - 1/9 3
12-6902002-G-A c.-68+3174G>A - intron_variant - 1/9 1
12-6902002-G-T c.-68+3174G>T - intron_variant - 1/9 1
12-6905715-T-C c.-67-3523T>C - IntronicSNV - 1/9 2
12-6909146-C-T c.-67-92C>T - IntronicSNV - 1/9 1
12-6909288-C-T c.-17C>T - 5-UTRSNV 2/10 - 1
12-6909317-G-A c.13G>A p.Val5Ile Missense 2/10 - 1
12-6909327-G-A c.23G>A p.Arg8Lys Missense 2/10 - 1
12-6909332-T-C c.28T>C p.Leu10Leu Synonymous 2/10 - 3
12-6909334-G-A c.30G>A p.Leu10Leu Synonymous 2/10 - 3
12-6909332-TT-AG c.28_29delinsAG p.Leu10Arg Missense 2/10 - 14
12-6909332-TTG-ATC c.28_30delinsATC p.Leu10Ile Missense 2/10 - 186
12-6909332-TT-CC c.28_29delinsCC p.Leu10Pro Missense 2/10 - 2
12-6909332-TT-GC c.28_29delinsGC p.Leu10Ala Missense 2/10 - 5
12-6909332-T-A c.28T>A p.Leu10Met Missense 2/10 - 3
12-6909332-T-G c.28T>G p.Leu10Val Missense 2/10 - 100
12-6909333-T-C c.29T>C p.Leu10Ser Missense 2/10 - 1
12-6909333-TG-AT c.29_30delinsAT p.Leu10Tyr Missense 2/10 - 1
12-6909333-TG-GT c.29_30delinsGT p.Leu10Cys Missense 2/10 - 3
12-6909334-G-C c.30G>C p.Leu10Phe Missense 2/10 - 93
12-6909334-G-T c.30G>T p.Leu10Phe Missense 2/10 - 93
12-6909335-CT-GC c.31_32delinsGC p.Leu11Ala Missense 2/10 - 2
12-6909335-C-G c.31C>G p.Leu11Val Missense 2/10 - 1
12-6909338-CT-GC c.34_35delinsGC p.Leu12Ala Missense 2/10 - 1
12-6909338-CT-GA c.34_35delinsGA p.Leu12Glu Missense 2/10 - 6
12-6909338-CT-GG c.34_35delinsGG p.Leu12Gly Missense 2/10 - 1
12-6909341-G-T c.37G>T p.Val13Leu Missense 2/10 - 2
12-6909341-GT-AC c.37_38inv p.Val13Thr Missense 2/10 - 1
12-6909341-GTG-ATC c.37_39delinsATC p.Val13Ile Missense 2/10 - 3
12-6909341-G-C c.37G>C p.Val13Leu Missense 2/10 - 2
12-6909342-T-C c.38T>C p.Val13Ala Missense 2/10 - 2
12-6909342-TG-AC c.38_39delinsAC p.Val13Asp Missense 2/10 - 2
12-6909344-CT-GC c.40_41delinsGC p.Leu14Ala Missense 2/10 - 2
12-6909344-C-G c.40C>G p.Leu14Val Missense 2/10 - 1
12-6909344-CT-TG c.40_41delinsTG p.Leu14Trp Missense 2/10 - 1
12-6909347-CA-GC c.43_44delinsGC p.Gln15Ala Missense 2/10 - 1
12-6909347-C-T c.43C>T p.Gln15* Nonsense 2/10 - 1
12-6909347-CAA-AAC c.43_45delinsAAC p.Gln15Asn Missense 2/10 - 1
12-6909348-A-T c.44A>T p.Gln15Leu Missense 2/10 - 4
12-6909350-CT-GC c.46_47delinsGC p.Leu16Ala Missense 2/10 - 1
12-6909351-T-G c.47T>G p.Leu16Arg Missense 2/10 - 2
12-6909442-T-C c.50-31T>C - IntronicSNV - 2/9 1
12-6909473-C-A c.50C>A p.Ala17Glu Missense 3/10 - 2
12-6909473-C-T c.50C>T p.Ala17Val Missense 3/10 - 2
12-6909473-CG-AC c.50_51delinsAC p.Ala17Asp Missense 3/10 - 1
12-6909475-CT-GC c.52_53delinsGC p.Leu18Ala Missense 3/10 - 1
12-6909475-C-T c.52C>T p.Leu18Phe Missense 3/10 - 1
12-6909475-CTC-TAA c.52_54delinsTAA p.Leu18* Nonsense 3/10 - 2
12-6909478-CT-GC c.55_56delinsGC p.Leu19Ala Missense 3/10 - 1
12-6909478-CT-AC c.55_56delinsAC p.Leu19Thr Missense 3/10 - 1
12-6909478-C-G c.55C>G p.Leu19Val Missense 3/10 - 1
12-6909478-C-A c.55C>A p.Leu19Ile Missense 3/10 - 15
12-6909479-T-C c.56T>C p.Leu19Pro Missense 3/10 - 2
12-6909480-C-T c.57C>T p.Leu19Leu Synonymous 3/10 - 1
12-6909480-C-A c.57C>A p.Leu19Leu Synonymous 3/10 - 1
12-6909480-C-G c.57C>G p.Leu19Leu Synonymous 3/10 - 1
12-6909481-CC-AA c.58_59delinsAA p.Pro20Lys Missense 3/10 - 1
12-6909481-C-G c.58C>G p.Pro20Ala Missense 3/10 - 2
12-6909481-CC-GG c.58_59inv p.Pro20Gly Missense 3/10 - 1
12-6909481-CCA-TGG c.58_60inv p.Pro20Trp Missense 3/10 - 1
12-6909482-C-T c.59C>T p.Pro20Leu Missense 3/10 - 2
12-6909483-A-T c.60A>T p.Pro20Pro Synonymous 3/10 - 1
12-6909484-GC-CT c.61_62delinsCT p.Ala21Leu Missense 3/10 - 5
12-6909484-GC-AG c.61_62delinsAG p.Ala21Arg Missense 3/10 - 2
12-6909484-G-A c.61G>A p.Ala21Thr Missense 3/10 - 2
12-6909484-G-C c.61G>C p.Ala21Pro Missense 3/10 - 2
12-6909485-C-T c.62C>T p.Ala21Val Missense 3/10 - 2
12-6909485-C-A c.62C>A p.Ala21Glu Missense 3/10 - 1
12-6909487-GCC-ATG c.64_66delinsATG p.Ala22Met Missense 3/10 - 1
12-6909487-GC-CG c.64_65delinsCG p.Ala22Arg Missense 3/10 - 5
12-6909487-G-A c.64G>A p.Ala22Thr Missense 3/10 - 3
12-6909487-GC-TG c.64_65delinsTG p.Ala22Cys Missense 3/10 - 8
12-6909488-C-T c.65C>T p.Ala22Val Missense 3/10 - 5
12-6909488-C-A c.65C>A p.Ala22Asp Missense 3/10 - 2
12-6909488-CC-AG c.65_66delinsAG p.Ala22Glu Missense 3/10 - 3
12-6909489-C-T c.66C>T p.Ala22Ala Synonymous 3/10 - 2
12-6909489-C-G c.66C>G p.Ala22Ala Synonymous 3/10 - 2
12-6909489-C-A c.66C>A p.Ala22Ala Synonymous 3/10 - 2
12-6909490-AC-CA c.67_68delinsCA p.Thr23His Missense 3/10 - 1
12-6909491-C-T c.68C>T p.Thr23Ile Missense 3/10 - 2
12-6909491-C-G c.68C>G p.Thr23Ser Missense 3/10 - 2
12-6909491-C-A c.68C>A p.Thr23Asn Missense 3/10 - 3
12-6909490-A-T c.67A>T p.Thr23Ser Missense 3/10 - 2
12-6909493-C-G c.70C>G p.Gln24Glu Missense 3/10 - 1
12-6909493-CA-GC c.70_71delinsGC p.Gln24Ala Missense 3/10 - 2
12-6909495-G-T c.72G>T p.Gln24His Missense 3/10 - 37
12-6909495-G-C c.72G>C p.Gln24His Missense 3/10 - 37
12-6909496-G-A c.73G>A p.Gly25Arg Missense 3/10 - 1
12-6909496-G-C c.73G>C p.Gly25Arg Missense 3/10 - 1
12-6909497-G-C c.74G>C p.Gly25Ala Missense 3/10 - 2
12-6909499-AA-GC c.76_77delinsGC p.Lys26Ala Missense 3/10 - 2
12-6909499-A-G c.76A>G p.Lys26Glu Missense 3/10 - 4
12-6909500-AG-TC c.77_78delinsTC p.Lys26Ile Missense 3/10 - 1
12-6909500-AG-GC c.77_78delinsGC p.Lys26Ser Missense 3/10 - 1
12-6909500-A-C c.77A>C p.Lys26Thr Missense 3/10 - 1
12-6909500-A-G c.77A>G p.Lys26Arg Missense 3/10 - 6
12-6909501-G-T c.78G>T p.Lys26Asn Missense 3/10 - 2
12-6909501-G-C c.78G>C p.Lys26Asn Missense 3/10 - 2
12-6909502-AA-GC c.79_80delinsGC p.Lys27Ala Missense 3/10 - 3
12-6909502-A-G c.79A>G p.Lys27Glu Missense 3/10 - 1
12-6909503-AA-TG c.80_81delinsTG p.Lys27Met Missense 3/10 - 17
12-6909503-A-G c.80A>G p.Lys27Arg Missense 3/10 - 7
12-6909503-A-C c.80A>C p.Lys27Thr Missense 3/10 - 1
12-6909505-G-A c.82G>A p.Val28Met Missense 3/10 - 2
12-6909505-GT-AA c.82_83delinsAA p.Val28Lys Missense 3/10 - 1
12-6909506-T-C c.83T>C p.Val28Ala Missense 3/10 - 3
12-6909508-GTG-TTT c.85_87delinsTTT p.Val29Phe Missense 3/10 - 1
12-6909509-T-C c.86T>C p.Val29Ala Missense 3/10 - 3
12-6909511-CT-GC c.88_89delinsGC p.Leu30Ala Missense 3/10 - 1
12-6909511-CT-GA c.88_89delinsGA p.Leu30Glu Missense 3/10 - 5
12-6909512-T-G c.89T>G p.Leu30Arg Missense 3/10 - 4
12-6909514-G-A c.91G>A p.Gly31Ser Missense 3/10 - 3
12-6909514-G-C c.91G>C p.Gly31Arg Missense 3/10 - 4
12-6909514-GG-CC c.91_92inv p.Gly31Pro Missense 3/10 - 4
12-6909515-G-C c.92G>C p.Gly31Ala Missense 3/10 - 2
12-6909515-G-A c.92G>A p.Gly31Asp Missense 3/10 - 3
12-6909517-AA-GC c.94_95delinsGC p.Lys32Ala Missense 3/10 - 4
12-6909517-A-G c.94A>G p.Lys32Glu Missense 3/10 - 2
12-6909518-A-T c.95A>T p.Lys32Ile Missense 3/10 - 1
12-6909518-A-G c.95A>G p.Lys32Arg Missense 3/10 - 1
12-6909519-A-T c.96A>T p.Lys32Asn Missense 3/10 - 1
12-6909519-A-C c.96A>C p.Lys32Asn Missense 3/10 - 1
12-6909520-A-C c.97A>C p.Lys33Gln Missense 3/10 - 3
12-6909520-A-G c.97A>G p.Lys33Glu Missense 3/10 - 3
12-6909520-AA-GC c.97_98delinsGC p.Lys33Ala Missense 3/10 - 8
12-6909520-AAA-CAT c.97_99delinsCAT p.Lys33His Missense 3/10 - 3
12-6909521-AA-GC c.98_99delinsGC p.Lys33Ser Missense 3/10 - 2
12-6909521-A-G c.98A>G p.Lys33Arg Missense 3/10 - 9
12-6909524-G-C c.101G>C p.Gly34Ala Missense 3/10 - 2
12-6909524-G-A c.101G>A p.Gly34Glu Missense 3/10 - 1
12-6909525-G-C c.102G>C p.Gly34Gly Synonymous 3/10 - 3
12-6909525-G-A c.102G>A p.Gly34Gly Synonymous 3/10 - 3
12-6909525-G-T c.102G>T p.Gly34Gly Synonymous 3/10 - 3
12-6909526-GA-AG c.103_104delinsAG p.Asp35Ser Missense 3/10 - 2
12-6909527-A-C c.104A>C p.Asp35Ala Missense 3/10 - 3
12-6909528-T-G c.105T>G p.Asp35Glu Missense 3/10 - 4
12-6909528-T-A c.105T>A p.Asp35Glu Missense 3/10 - 4
12-6909532-GTG-ATC c.109_111delinsATC p.Val37Ile Missense 3/10 - 1
12-6909533-T-C c.110T>C p.Val37Ala Missense 3/10 - 1
12-6909535-G-T c.112G>T p.Glu38* Nonsense 3/10 - 1
12-6909535-GAA-TTT c.112_114delinsTTT p.Glu38Phe Missense 3/10 - 2
12-6909535-G-A c.112G>A p.Glu38Lys Missense 3/10 - 2
12-6909536-A-C c.113A>C p.Glu38Ala Missense 3/10 - 3
12-6909536-A-G c.113A>G p.Glu38Gly Missense 3/10 - 1
12-6909537-A-C c.114A>C p.Glu38Asp Missense 3/10 - 1
12-6909537-A-T c.114A>T p.Glu38Asp Missense 3/10 - 1
12-6909538-CTG-ATC c.115_117delinsATC p.Leu39Ile Missense 3/10 - 2
12-6909538-CT-GC c.115_116delinsGC p.Leu39Ala Missense 3/10 - 2
12-6909541-AC-TG c.118_119delinsTG p.Thr40Cys Missense 3/10 - 1
12-6909541-AC-GA c.118_119delinsGA p.Thr40Asp Missense 3/10 - 1
12-6909541-A-G c.118A>G p.Thr40Ala Missense 3/10 - 3
12-6909542-CC-AG c.119_120delinsAG p.Thr40Lys Missense 3/10 - 1
12-6909544-T-A c.121T>A p.Cys41Ser Missense 3/10 - 2
12-6909545-G-C c.122G>C p.Cys41Ser Missense 3/10 - 2
12-6909544-TG-GC c.121_122delinsGC p.Cys41Ala Missense 3/10 - 1
12-6909544-TGT-GAG c.121_123delinsGAG p.Cys41Glu Missense 3/10 - 1
12-6909544-TG-GA c.121_122delinsGA p.Cys41Asp Missense 3/10 - 1
12-6909548-C-T c.125C>T p.Thr42Ile Missense 3/10 - 1
12-6909550-GC-CG c.127_128delinsCG p.Ala43Arg Missense 3/10 - 4
12-6909550-GC-TG c.127_128delinsTG p.Ala43Cys Missense 3/10 - 1
12-6909551-CT-AG c.128_129inv p.Ala43Glu Missense 3/10 - 1
12-6909551-C-A c.128C>A p.Ala43Asp Missense 3/10 - 1
12-6909552-T-A c.129T>A p.Ala43Ala Synonymous 3/10 - 2
12-6909552-T-C c.129T>C p.Ala43Ala Synonymous 3/10 - 2
12-6909552-T-G c.129T>G p.Ala43Ala Synonymous 3/10 - 2
12-6909553-T-G c.130T>G p.Ser44Ala Missense 3/10 - 3
12-6909558-G-T c.135G>T p.Gln45His Missense 3/10 - 1
12-6909558-G-C c.135G>C p.Gln45His Missense 3/10 - 1
12-6909559-A-C c.136A>C p.Lys46Gln Missense 3/10 - 2
12-6909559-AA-GC c.136_137delinsGC p.Lys46Ala Missense 3/10 - 4
12-6909560-A-T c.137A>T p.Lys46Met Missense 3/10 - 2
12-6909560-A-G c.137A>G p.Lys46Arg Missense 3/10 - 3
12-6909562-AAG-GAC c.139_141delinsGAC p.Lys47Asp Missense 3/10 - 1
12-6909565-AGC-GAG c.142_144delinsGAG p.Ser48Glu Missense 3/10 - 1
12-6909565-A-G c.142A>G p.Ser48Gly Missense 3/10 - 1
12-6909565-AGC-CAA c.142_144delinsCAA p.Ser48Gln Missense 3/10 - 1
12-6909566-G-A c.143G>A p.Ser48Asn Missense 3/10 - 1
12-6909566-G-C c.143G>C p.Ser48Thr Missense 3/10 - 9
12-6909568-AT-GC c.145_146delinsGC p.Ile49Ala Missense 3/10 - 1
12-6909568-ATA-GAC c.145_147delinsGAC p.Ile49Asp Missense 3/10 - 1
12-6909571-C-G c.148C>G p.Gln50Glu Missense 3/10 - 1
12-6909571-CAA-TAT c.148_150delinsTAT p.Gln50Tyr Missense 3/10 - 3
12-6909574-TT-GC c.151_152delinsGC p.Phe51Ala Missense 3/10 - 1
12-6909577-CA-GC c.154_155delinsGC p.His52Ala Missense 3/10 - 2
12-6909577-CA-AG c.154_155delinsAG p.His52Ser Missense 3/10 - 1
12-6909580-T-C c.157T>C p.Trp53Arg Missense 3/10 - 1
12-6909580-T-A c.157T>A p.Trp53Arg Missense 3/10 - 1
12-6909583-AAA-GAC c.160_162delinsGAC p.Lys54Asp Missense 3/10 - 1
12-6909586-A-C c.163A>C p.Asn55His Missense 3/10 - 2
12-6909589-T-G c.166T>G p.Ser56Ala Missense 3/10 - 4
12-6909589-TC-GG c.166_167delinsGG p.Ser56Gly Missense 3/10 - 1
12-6909589-TC-CG c.166_167delinsCG p.Ser56Arg Missense 3/10 - 1
12-6909589-TC-AA c.166_167delinsAA p.Ser56Asn Missense 3/10 - 6
12-6909589-TCC-AAG c.166_168delinsAAG p.Ser56Lys Missense 3/10 - 1
12-6909589-TC-GA c.166_167inv p.Ser56Asp Missense 3/10 - 2
12-6909592-AA-GC c.169_170delinsGC p.Asn57Ala Missense 3/10 - 6
12-6909593-A-G c.170A>G p.Asn57Ser Missense 3/10 - 4
12-6909595-C-G c.172C>G p.Gln58Glu Missense 3/10 - 52
12-6909595-C-A c.172C>A p.Gln58Lys Missense 3/10 - 4
12-6909597-G-A c.174G>A p.Gln58Gln Synonymous 3/10 - 1
12-6909598-A-G c.175A>G p.Ile59Val Missense 3/10 - 1
12-6909601-AA-GC c.178_179delinsGC p.Lys60Ala Missense 3/10 - 1
12-6909602-A-G c.179A>G p.Lys60Arg Missense 3/10 - 2
12-6909604-A-C c.181A>C p.Ile61Leu Missense 3/10 - 1
12-6909605-TT-GG c.182_183delinsGG p.Ile61Arg Missense 3/10 - 1
12-6909607-CT-GC c.184_185delinsGC p.Leu62Ala Missense 3/10 - 2
12-6909610-GGA-AGC c.187_189delinsAGC p.Gly63Ser Missense 3/10 - 1
12-6909610-GGA-TGT c.187_189delinsTGT p.Gly63Cys Missense 3/10 - 1
12-6909610-G-A c.187G>A p.Gly63Arg Missense 3/10 - 2
12-6909610-G-C c.187G>C p.Gly63Arg Missense 3/10 - 2
12-6909610-GG-AA c.187_188delinsAA p.Gly63Lys Missense 3/10 - 2
12-6909611-GG-G c.188del p.Gly63Glufs*7 Frameshift 3/10 - 1
12-6909613-A-G c.190A>G p.Asn64Asp Missense 3/10 - 1
12-6909614-A-T c.191A>T p.Asn64Ile Missense 3/10 - 1
12-6909614-A-G c.191A>G p.Asn64Ser Missense 3/10 - 2
12-6909616-C-G c.193C>G p.Gln65Glu Missense 3/10 - 1
12-6909617-A-G c.194A>G p.Gln65Arg Missense 3/10 - 17
12-6909618-G-C c.195G>C p.Gln65His Missense 3/10 - 2
12-6909618-G-T c.195G>T p.Gln65His Missense 3/10 - 2
12-6909620-G-C c.197G>C p.Gly66Ala Missense 3/10 - 2
12-6909622-TC-CG c.199_200delinsCG p.Ser67Arg Missense 3/10 - 1
12-6909622-T-G c.199T>G p.Ser67Ala Missense 3/10 - 5
12-6909622-TC-GA c.199_200inv p.Ser67Asp Missense 3/10 - 1
12-6909625-T-A c.202T>A p.Phe68Ile Missense 3/10 - 1
12-6909625-T-G c.202T>G p.Phe68Val Missense 3/10 - 1
12-6909625-TT-GC c.202_203delinsGC p.Phe68Ala Missense 3/10 - 5
12-6909625-TT-GA c.202_203delinsGA p.Phe68Asp Missense 3/10 - 5
12-6909625-TTC-GAG c.202_204delinsGAG p.Phe68Glu Missense 3/10 - 1
12-6909626-T-A c.203T>A p.Phe68Tyr Missense 3/10 - 1
12-6909626-T-C c.203T>C p.Phe68Ser Missense 3/10 - 2
12-6909628-TT-GC c.205_206delinsGC p.Leu69Ala Missense 3/10 - 1
12-6909629-TA-GG c.206_207delinsGG p.Leu69Trp Missense 3/10 - 1
12-6909631-A-T c.208A>T p.Thr70Ser Missense 3/10 - 1
12-6909632-CT-TG c.209_210delinsTG p.Thr70Met Missense 3/10 - 1
12-6909633-CT-C c.210del p.Gly72Valfs*5 Frameshift 3/10 - 1
12-6909634-A-T c.211A>T p.Lys71* Nonsense 3/10 - 1
12-6909634-A-C c.211A>C p.Lys71Gln Missense 3/10 - 2
12-6909634-A-G c.211A>G p.Lys71Glu Missense 3/10 - 3
12-6909635-AA-TG c.212_213delinsTG p.Lys71Met Missense 3/10 - 1
12-6909635-A-G c.212A>G p.Lys71Arg Missense 3/10 - 4
12-6909636-A-C c.213A>C p.Lys71Asn Missense 3/10 - 2
12-6909636-A-T c.213A>T p.Lys71Asn Missense 3/10 - 2
12-6919319-G-C c.215-3989G>C - IntronicSNV - 3/9 1
12-6922494-A-T c.215-814A>T - IntronicSNV - 3/9 1
12-6923286-C-T c.215-22C>T - IntronicSNV - 3/9 1
12-6923286-C-G c.215-22C>G - IntronicSNV - 3/9 1
12-6923286-C-A c.215-22C>A - IntronicSNV - 3/9 1
12-6923308-GT-AG c.215_216delinsAG p.Gly72Glu Missense 4/10 - 1
12-6923310-C-G c.217C>G p.Pro73Ala Missense 4/10 - 2
12-6923311-CA-AT c.218_219delinsAT p.Pro73His Missense 4/10 - 1
12-6923313-TC-AA c.220_221delinsAA p.Ser74Asn Missense 4/10 - 1
12-6923313-TC-CG c.220_221delinsCG p.Ser74Arg Missense 4/10 - 1
12-6923313-TC-GA c.220_221inv p.Ser74Asp Missense 4/10 - 2
12-6923313-TCC-GAG c.220_222delinsGAG p.Ser74Glu Missense 4/10 - 1
12-6923313-T-G c.220T>G p.Ser74Ala Missense 4/10 - 1
12-6923313-T-A c.220T>A p.Ser74Thr Missense 4/10 - 1
12-6923314-C-A c.221C>A p.Ser74Tyr Missense 4/10 - 1
12-6923314-C-G c.221C>G p.Ser74Cys Missense 4/10 - 1
12-6923317-A-C c.224A>C p.Lys75Thr Missense 4/10 - 2
12-6923317-A-G c.224A>G p.Lys75Arg Missense 4/10 - 2
12-6923319-C-G c.226C>G p.Leu76Val Missense 4/10 - 70
12-6923319-CT-TA c.226_227delinsTA p.Leu76* Nonsense 4/10 - 1
12-6923319-CT-TG c.226_227delinsTG p.Leu76Trp Missense 4/10 - 1
12-6923319-CT-AC c.226_227delinsAC p.Leu76Thr Missense 4/10 - 2
12-6923319-C-A c.226C>A p.Leu76Met Missense 4/10 - 3
12-6923322-AAT-CAA c.229_231delinsCAA p.Asn77Gln Missense 4/10 - 1
12-6923326-A-C c.233A>C p.Asp78Ala Missense 4/10 - 4
12-6923327-T-G c.234T>G p.Asp78Glu Missense 4/10 - 1
12-6923327-T-A c.234T>A p.Asp78Glu Missense 4/10 - 1
12-6923328-CGC-GAG c.235_237delinsGAG p.Arg79Glu Missense 4/10 - 2
12-6923328-CG-GC c.235_236delinsGC p.Arg79Ala Missense 4/10 - 1
12-6923331-GC-TG c.238_239delinsTG p.Ala80Cys Missense 4/10 - 2
12-6923332-C-T c.239C>T p.Ala80Val Missense 4/10 - 1
12-6923332-CT-AG c.239_240inv p.Ala80Glu Missense 4/10 - 1
12-6923332-C-A c.239C>A p.Ala80Asp Missense 4/10 - 1
12-6923333-T-A c.240T>A p.Ala80Ala Synonymous 4/10 - 3
12-6923333-T-G c.240T>G p.Ala80Ala Synonymous 4/10 - 3
12-6923333-T-C c.240T>C p.Ala80Ala Synonymous 4/10 - 3
12-6923335-A-C c.242A>C p.Asp81Ala Missense 4/10 - 4
12-6923337-T-C c.244T>C p.Ser82Pro Missense 4/10 - 2
12-6923337-T-G c.244T>G p.Ser82Ala Missense 4/10 - 1
12-6923338-C-T c.245C>T p.Ser82Leu Missense 4/10 - 1
12-6923338-CA-TT c.245_246delinsTT p.Ser82Phe Missense 4/10 - 1
12-6923340-AGA-TGT c.247_249delinsTGT p.Arg83Cys Missense 4/10 - 2
12-6923341-G-A c.248G>A p.Arg83Lys Missense 4/10 - 6
12-6923342-A-G c.249A>G p.Arg83Arg Synonymous 4/10 - 1
12-6923340-A-C c.247A>C p.Arg83Arg Synonymous 4/10 - 1
12-6923343-AG-CA c.250_251delinsCA p.Arg84Gln Missense 4/10 - 1
12-6923343-AG-GC c.250_251delinsGC p.Arg84Ala Missense 4/10 - 1
12-6923349-CTT-TGG c.256_258delinsTGG p.Leu86Trp Missense 4/10 - 1
12-6923349-C-G c.256C>G p.Leu86Val Missense 4/10 - 1
12-6923349-C-T c.256C>T p.Leu86Phe Missense 4/10 - 2
12-6923349-CT-GC c.256_257delinsGC p.Leu86Ala Missense 4/10 - 2
12-6923352-T-C c.259T>C p.Trp87Arg Missense 4/10 - 1
12-6923355-G-C c.262G>C p.Asp88His Missense 4/10 - 1
12-6923355-GA-CG c.262_263delinsCG p.Asp88Arg Missense 4/10 - 1
12-6923356-A-C c.263A>C p.Asp88Ala Missense 4/10 - 3
12-6923357-C-A c.264C>A p.Asp88Glu Missense 4/10 - 1
12-6923357-C-G c.264C>G p.Asp88Glu Missense 4/10 - 1
12-6923358-CA-GC c.265_266delinsGC p.Gln89Ala Missense 4/10 - 1
12-6923358-CAA-AAC c.265_267delinsAAC p.Gln89Asn Missense 4/10 - 1
12-6923362-GG-G c.269del p.Gly90Glufs*5 Frameshift 4/10 - 1
12-6923364-A-G c.271A>G p.Asn91Asp Missense 4/10 - 1
12-6923367-TTT-GAG c.274_276delinsGAG p.Phe92Glu Missense 4/10 - 1
12-6923370-C-G c.277C>G p.Pro93Ala Missense 4/10 - 2
12-6923370-C-A c.277C>A p.Pro93Thr Missense 4/10 - 1
12-6923373-CTG-GAC c.280_282delinsGAC p.Leu94Asp Missense 4/10 - 1
12-6923374-T-C c.281T>C p.Leu94Pro Missense 4/10 - 1
12-6923376-AT-GC c.283_284delinsGC p.Ile95Ala Missense 4/10 - 1
12-6923376-A-G c.283A>G p.Ile95Val Missense 4/10 - 1
12-6923380-TC-GG c.287_288delinsGG p.Ile96Arg Missense 4/10 - 1
12-6923382-AA-GC c.289_290delinsGC p.Lys97Ala Missense 4/10 - 7
12-6923383-A-T c.290A>T p.Lys97Met Missense 4/10 - 2
12-6923385-AA-GC c.292_293delinsGC p.Asn98Ala Missense 4/10 - 3
12-6923385-A-C c.292A>C p.Asn98His Missense 4/10 - 1
12-6923386-A-T c.293A>T p.Asn98Ile Missense 4/10 - 1
12-6923388-CT-TG c.295_296delinsTG p.Leu99Cys Missense 4/10 - 1
12-6923388-CTT-AAG c.295_297inv p.Leu99Lys Missense 4/10 - 1
12-6923388-C-T c.295C>T p.Leu99Phe Missense 4/10 - 7
12-6923390-T-G c.297T>G p.Leu99Leu Synonymous 4/10 - 1
12-6923390-T-A c.297T>A p.Leu99Leu Synonymous 4/10 - 1
12-6923390-T-C c.297T>C p.Leu99Leu Synonymous 4/10 - 1
12-6923391-A-G c.298A>G p.Lys100Glu Missense 4/10 - 2
12-6923391-AA-GC c.298_299delinsGC p.Lys100Ala Missense 4/10 - 1
12-6923392-AG-GC c.299_300delinsGC p.Lys100Ser Missense 4/10 - 1
12-6923392-A-T c.299A>T p.Lys100Met Missense 4/10 - 2
12-6923394-A-G c.301A>G p.Ile101Val Missense 4/10 - 2
12-6923397-AG-A c.304del p.Glu102Lysfs*20 Frameshift 4/10 - 1
12-6923397-G-A c.304G>A p.Glu102Lys Missense 4/10 - 3
12-6923398-A-C c.305A>C p.Glu102Ala Missense 4/10 - 6
12-6923399-A-C c.306A>C p.Glu102Asp Missense 4/10 - 2
12-6923399-A-T c.306A>T p.Glu102Asp Missense 4/10 - 2
12-6923402-C-T c.309C>T p.Asp103Asp Synonymous 4/10 - 1
12-6923403-TC-AG c.310_311delinsAG p.Ser104Arg Missense 4/10 - 1
12-6923403-T-C c.310T>C p.Ser104Pro Missense 4/10 - 1
12-6923407-A-G c.314A>G p.Asp105Gly Missense 4/10 - 2
12-6923407-A-C c.314A>C p.Asp105Ala Missense 4/10 - 1
12-6923409-AC-TG c.316_317delinsTG p.Thr106Cys Missense 4/10 - 1
12-6923409-ACT-GAG c.316_318delinsGAG p.Thr106Glu Missense 4/10 - 1
12-6923409-A-G c.316A>G p.Thr106Ala Missense 4/10 - 1
12-6923410-CT-TG c.317_318delinsTG p.Thr106Met Missense 4/10 - 1
12-6923415-A-G c.322A>G p.Ile108Val Missense 4/10 - 2
12-6923415-AT-GC c.322_323delinsGC p.Ile108Ala Missense 4/10 - 1
12-6923418-T-A c.325T>A p.Cys109Ser Missense 4/10 - 1
12-6923419-G-C c.326G>C p.Cys109Ser Missense 4/10 - 1
12-6923421-G-A c.328G>A p.Glu110Lys Missense 4/10 - 2
12-6923421-GAA-CAT c.328_330delinsCAT p.Glu110His Missense 4/10 - 1
12-6923424-GT-AA c.331_332delinsAA p.Val111Lys Missense 4/10 - 1
12-6923424-GTG-ATC c.331_333delinsATC p.Val111Ile Missense 4/10 - 7
12-6923427-G-A c.334G>A p.Glu112Lys Missense 4/10 - 9
12-6923430-G-A c.337G>A p.Asp113Asn Missense 4/10 - 3
12-6923430-GA-TG c.337_338delinsTG p.Asp113Cys Missense 4/10 - 1
12-6923431-A-C c.338A>C p.Asp113Ala Missense 4/10 - 6
12-6923432-C-G c.339C>G p.Asp113Glu Missense 4/10 - 3
12-6923432-C-A c.339C>A p.Asp113Glu Missense 4/10 - 3
12-6923433-CA-GC c.340_341delinsGC p.Gln114Ala Missense 4/10 - 1
12-6923433-CAG-AAC c.340_342delinsAAC p.Gln114Asn Missense 4/10 - 2
12-6923434-A-T c.341A>T p.Gln114Leu Missense 4/10 - 3
12-6923439-GA-AT c.346_347delinsAT p.Glu116Met Missense 4/10 - 1
12-6923439-GAG-TTT c.346_348delinsTTT p.Glu116Phe Missense 4/10 - 1
12-6923439-GA-CT c.346_347delinsCT p.Glu116Leu Missense 4/10 - 1
12-6923439-GAG-ATC c.346_348delinsATC p.Glu116Ile Missense 4/10 - 1
12-6923439-GA-TG c.346_347delinsTG p.Glu116Trp Missense 4/10 - 1
12-6923439-G-A c.346G>A p.Glu116Lys Missense 4/10 - 1
12-6923439-GAG-TAT c.346_348delinsTAT p.Glu116Tyr Missense 4/10 - 1
12-6923440-A-T c.347A>T p.Glu116Val Missense 4/10 - 1
12-6923443-A-C c.350A>C p.Glu117Ala Missense 4/10 - 1
12-6923445-GTG-TGT c.352_354delinsTGT p.Val118Cys Missense 4/10 - 2
12-6923445-GTG-TTT c.352_354delinsTTT p.Val118Phe Missense 4/10 - 1
12-6923445-GTG-ATC c.352_354delinsATC p.Val118Ile Missense 4/10 - 120
12-6923445-GTG-AAC c.352_354delinsAAC p.Val118Asn Missense 4/10 - 1
12-6923445-G-C c.352G>C p.Val118Leu Missense 4/10 - 2
12-6923445-G-T c.352G>T p.Val118Leu Missense 4/10 - 2
12-6923446-TG-AC c.353_354delinsAC p.Val118Asp Missense 4/10 - 1
12-6923447-G-A c.354G>A p.Val118Val Synonymous 4/10 - 2
12-6923447-G-T c.354G>T p.Val118Val Synonymous 4/10 - 2
12-6923447-G-C c.354G>C p.Val118Val Synonymous 4/10 - 2
12-6923451-T-G c.358T>G p.Leu120Val Missense 4/10 - 1
12-6923452-T-C c.359T>C p.Leu120Ser Missense 4/10 - 1
12-6923452-TG-GT c.359_360delinsGT p.Leu120Cys Missense 4/10 - 2
12-6923453-G-T c.360G>T p.Leu120Phe Missense 4/10 - 2
12-6923453-G-C c.360G>C p.Leu120Phe Missense 4/10 - 2
12-6923455-T-A c.362T>A p.Leu121Gln Missense 4/10 - 2
12-6923457-GTG-ATC c.364_366delinsATC p.Val122Ile Missense 4/10 - 1
12-6923462-C-G c.369C>G p.Phe123Leu Missense 4/10 - 1
12-6923462-C-A c.369C>A p.Phe123Leu Missense 4/10 - 1
12-6923460-T-C c.367T>C p.Phe123Leu Missense 4/10 - 1
12-6923464-GA-AC c.371_372delinsAC p.Gly124Asp Missense 4/10 - 2
12-6923925-T-C c.374T>C p.Leu125Ser Missense 5/10 - 1
12-6923926-G-C c.375G>C p.Leu125Phe Missense 5/10 - 5
12-6923926-G-T c.375G>T p.Leu125Phe Missense 5/10 - 5
12-6923934-A-C c.383A>C p.Asn128Thr Missense 5/10 - 1
12-6923936-TC-GA c.385_386inv p.Ser129Asp Missense 5/10 - 1
12-6923936-T-G c.385T>G p.Ser129Ala Missense 5/10 - 2
12-6923936-TC-AA c.385_386delinsAA p.Ser129Asn Missense 5/10 - 1
12-6923939-G-A c.388G>A p.Asp130Asn Missense 5/10 - 4
12-6923939-GAC-AAG c.388_390delinsAAG p.Asp130Lys Missense 5/10 - 1
12-6923940-A-C c.389A>C p.Asp130Ala Missense 5/10 - 5
12-6923945-C-T c.394C>T p.His132Tyr Missense 5/10 - 2
12-6923951-CT-GC c.400_401delinsGC p.Leu134Ala Missense 5/10 - 1
12-6923951-CT-GA c.400_401delinsGA p.Leu134Asp Missense 5/10 - 1
12-6923953-T-C c.402T>C p.Leu134Leu Synonymous 5/10 - 2
12-6923954-C-A c.403C>A p.Gln135Lys Missense 5/10 - 1
12-6923957-GG-AC c.406_407delinsAC p.Gly136Thr Missense 5/10 - 1
12-6923963-AGC-TGG c.412_414delinsTGG p.Ser138Trp Missense 5/10 - 1
12-6923963-AGC-TGA c.412_414delinsTGA p.Ser138* Nonsense 5/10 - 1
12-6923963-A-G c.412A>G p.Ser138Gly Missense 5/10 - 3
12-6923963-AGC-CAA c.412_414delinsCAA p.Ser138Gln Missense 5/10 - 1
12-6923963-AGC-GAG c.412_414delinsGAG p.Ser138Glu Missense 5/10 - 1
12-6923963-AG-CC c.412_413delinsCC p.Ser138Pro Missense 5/10 - 1
12-6923963-AG-CA c.412_413delinsCA p.Ser138His Missense 5/10 - 1
12-6923963-AG-GA c.412_413delinsGA p.Ser138Asp Missense 5/10 - 1
12-6923963-AG-GT c.412_413delinsGT p.Ser138Val Missense 5/10 - 1
12-6923963-AG-GC c.412_413delinsGC p.Ser138Ala Missense 5/10 - 20
12-6923963-AG-TA c.412_413delinsTA p.Ser138Tyr Missense 5/10 - 1
12-6923963-AG-TT c.412_413delinsTT p.Ser138Phe Missense 5/10 - 1
12-6923963-AG-CT c.412_413inv p.Ser138Leu Missense 5/10 - 1
12-6923964-GC-AG c.413_414delinsAG p.Ser138Lys Missense 5/10 - 1
12-6923964-GC-TG c.413_414delinsTG p.Ser138Met Missense 5/10 - 1
12-6923964-G-T c.413G>T p.Ser138Ile Missense 5/10 - 1
12-6923964-G-C c.413G>C p.Ser138Thr Missense 5/10 - 3
12-6923964-G-A c.413G>A p.Ser138Asn Missense 5/10 - 2
12-6923965-C-A c.414C>A p.Ser138Arg Missense 5/10 - 2
12-6923967-T-C c.416T>C p.Leu139Pro Missense 5/10 - 1
12-6923968-G-A c.417G>A p.Leu139Leu Synonymous 5/10 - 1
12-6923968-G-T c.417G>T p.Leu139Leu Synonymous 5/10 - 1
12-6923968-G-C c.417G>C p.Leu139Leu Synonymous 5/10 - 1
12-6923966-C-T c.415C>T p.Leu139Leu Synonymous 5/10 - 1
12-6923969-AC-GA c.418_419delinsGA p.Thr140Asp Missense 5/10 - 1
12-6923970-C-T c.419C>T p.Thr140Ile Missense 5/10 - 4
12-6923972-C-G c.421C>G p.Leu141Val Missense 5/10 - 1
12-6923978-TT-CA c.427_428delinsCA p.Leu143Gln Missense 5/10 - 1
12-6923984-AG-GC c.433_434delinsGC p.Ser145Ala Missense 5/10 - 2
12-6923985-G-A c.434G>A p.Ser145Asn Missense 5/10 - 2
12-6923987-C-T c.436C>T p.Pro146Ser Missense 5/10 - 2
12-6923987-C-G c.436C>G p.Pro146Ala Missense 5/10 - 3
12-6923990-C-G c.439C>G p.Pro147Ala Missense 5/10 - 1
12-6923991-C-T c.440C>T p.Pro147Leu Missense 5/10 - 1
12-6923993-GG-CA c.442_443delinsCA p.Gly148His Missense 5/10 - 1
12-6923993-G-C c.442G>C p.Gly148Arg Missense 5/10 - 2
12-6923994-G-T c.443G>T p.Gly148Val Missense 5/10 - 2
12-6923995-T-TT c.444dup p.Ser149* Nonsense 5/10 - 1
12-6923996-AG-GC c.445_446delinsGC p.Ser149Ala Missense 5/10 - 1
12-6923997-G-A c.446G>A p.Ser149Asn Missense 5/10 - 1
12-6924000-G-A c.449G>A p.Ser150Asn Missense 5/10 - 1
12-6924008-G-C c.457G>C p.Val153Leu Missense 5/10 - 2
12-6924008-G-T c.457G>T p.Val153Leu Missense 5/10 - 2
12-6924008-G-A c.457G>A p.Val153Met Missense 5/10 - 1
12-6924008-GT-TA c.457_458delinsTA p.Val153* Nonsense 5/10 - 2
12-6924017-AG-CA c.466_467delinsCA p.Arg156Gln Missense 5/10 - 1
12-6924017-AG-GA c.466_467delinsGA p.Arg156Glu Missense 5/10 - 1
12-6924017-AGG-CAT c.466_468delinsCAT p.Arg156His Missense 5/10 - 1
12-6924020-AG-GC c.469_470delinsGC p.Ser157Ala Missense 5/10 - 1
12-6924026-AG-GC c.475_476delinsGC p.Arg159Ala Missense 5/10 - 2
12-6924035-AA-CC c.484_485delinsCC p.Asn162Pro Missense 5/10 - 1
12-6924036-A-G c.485A>G p.Asn162Ser Missense 5/10 - 1
12-6924036-A-C c.485A>C p.Asn162Thr Missense 5/10 - 1
12-6924050-AA-GC c.499_500delinsGC p.Lys167Ala Missense 5/10 - 1
12-6924053-A-T c.502A>T p.Thr168Ser Missense 5/10 - 1
12-6924054-C-G c.503C>G p.Thr168Ser Missense 5/10 - 1
12-6924056-C-T c.505C>T p.Leu169Phe Missense 5/10 - 1
12-6924056-C-A c.505C>A p.Leu169Ile Missense 5/10 - 1
12-6924056-CTC-AAG c.505_507delinsAAG p.Leu169Lys Missense 5/10 - 1
12-6924062-GTG-ATC c.511_513delinsATC p.Val171Ile Missense 5/10 - 1
12-6924063-T-C c.512T>C p.Val171Ala Missense 5/10 - 2
12-6924070-G-T c.519G>T p.Gln173His Missense 5/10 - 1
12-6924070-G-C c.519G>C p.Gln173His Missense 5/10 - 1
12-6924072-T-G c.521T>G p.Leu174Arg Missense 5/10 - 1
12-6924074-GA-AC c.523_524delinsAC p.Glu175Thr Missense 5/10 - 1
12-6924077-C-A c.526C>A p.Leu176Ile Missense 5/10 - 2
12-6924077-CT-GC c.526_527delinsGC p.Leu176Ala Missense 5/10 - 2
12-6924077-C-T c.526C>T p.Leu176Phe Missense 5/10 - 2
12-6924078-T-C c.527T>C p.Leu176Pro Missense 5/10 - 3
12-6924081-A-G c.530A>G p.Gln177Arg Missense 5/10 - 1
12-6924087-G-A c.536G>A p.Ser179Asn Missense 5/10 - 1
12-6924088-T-A c.537T>A p.Ser179Arg Missense 5/10 - 1
12-6924086-A-C c.535A>C p.Ser179Arg Missense 5/10 - 1
12-6924088-T-G c.537T>G p.Ser179Arg Missense 5/10 - 1
12-6924090-G-C c.539G>C p.Gly180Ala Missense 5/10 - 1
12-6924093-C-T c.542C>T p.Thr181Ile Missense 5/10 - 1
12-6924098-A-G c.547A>G p.Thr183Ala Missense 5/10 - 1
12-6924098-AC-GG c.547_548delinsGG p.Thr183Gly Missense 5/10 - 1
12-6924098-ACA-GAC c.547_549delinsGAC p.Thr183Asp Missense 5/10 - 1
12-6924101-T-A c.550T>A p.Cys184Ser Missense 5/10 - 2
12-6924102-G-C c.551G>C p.Cys184Ser Missense 5/10 - 2
12-6924107-GTC-AAG c.556_558delinsAAG p.Val186Lys Missense 5/10 - 1
12-6924113-C-T c.562C>T p.Gln188* Nonsense 5/10 - 1
12-6924116-A-G c.565A>G p.Asn189Asp Missense 5/10 - 1
12-6924116-AA-GC c.565_566delinsGC p.Asn189Ala Missense 5/10 - 8
12-6924117-A-C c.566A>C p.Asn189Thr Missense 5/10 - 1
12-6924119-CAG-AAC c.568_570delinsAAC p.Gln190Asn Missense 5/10 - 1
12-6924123-AG-GC c.572_573delinsGC p.Lys191Ser Missense 5/10 - 1
12-6924125-A-C c.574A>C p.Lys192Gln Missense 5/10 - 1
12-6924126-AG-GC c.575_576delinsGC p.Lys192Ser Missense 5/10 - 2
12-6924131-G-A c.580G>A p.Glu194Lys Missense 5/10 - 2
12-6924132-A-C c.581A>C p.Glu194Ala Missense 5/10 - 3
12-6924132-A-G c.581A>G p.Glu194Gly Missense 5/10 - 2
12-6924133-G-A c.582G>A p.Glu194Glu Synonymous 5/10 - 1
12-6924134-TT-GC c.583_584delinsGC p.Phe195Ala Missense 5/10 - 7
12-6924134-T-A c.583T>A p.Phe195Ile Missense 5/10 - 1
12-6924134-TT-CG c.583_584delinsCG p.Phe195Arg Missense 5/10 - 2
12-6924137-AA-GC c.586_587delinsGC p.Lys196Ala Missense 5/10 - 1
12-6924137-A-C c.586A>C p.Lys196Gln Missense 5/10 - 1
12-6924138-A-C c.587A>C p.Lys196Thr Missense 5/10 - 3
12-6924138-A-G c.587A>G p.Lys196Arg Missense 5/10 - 2
12-6924139-A-C c.588A>C p.Lys196Asn Missense 5/10 - 2
12-6924139-A-T c.588A>T p.Lys196Asn Missense 5/10 - 2
12-6924147-T-A c.596T>A p.Ile199Asn Missense 5/10 - 1
12-6924148-C-A c.597C>A p.Ile199Ile Synonymous 5/10 - 1
12-6924149-GT-AC c.598_599inv p.Val200Thr Missense 5/10 - 3
12-6924149-GTG-ATC c.598_600delinsATC p.Val200Ile Missense 5/10 - 2
12-6924150-T-A c.599T>A p.Val200Glu Missense 5/10 - 2
12-6924150-T-C c.599T>C p.Val200Ala Missense 5/10 - 2
12-6924152-GTG-ATC c.601_603delinsATC p.Val201Ile Missense 5/10 - 22
12-6924153-T-C c.602T>C p.Val201Ala Missense 5/10 - 1
12-6924155-CT-GC c.604_605delinsGC p.Leu202Ala Missense 5/10 - 2
12-6924155-CT-AA c.604_605delinsAA p.Leu202Lys Missense 5/10 - 1
12-6924158-G-A c.607G>A p.Ala203Thr Missense 5/10 - 1
12-6924297-C-T c.607+139C>T - IntronicSNV - 5/9 1
12-6924718-C-T c.608-504C>T - IntronicSNV - 5/9 1
12-6924718-C-A c.608-504C>A - IntronicSNV - 5/9 1
12-6925228-A-G c.614A>G p.Gln205Arg Missense 6/10 - 1
12-6925230-A-G c.616A>G p.Lys206Glu Missense 6/10 - 1
12-6925234-C-G c.620C>G p.Ala207Gly Missense 6/10 - 1
12-6925239-AG-GC c.625_626delinsGC p.Ser209Ala Missense 6/10 - 4
12-6925248-TAT-GAG c.634_636delinsGAG p.Tyr212Glu Missense 6/10 - 1
12-6925249-A-G c.635A>G p.Tyr212Cys Missense 6/10 - 1
12-6925249-A-T c.635A>T p.Tyr212Phe Missense 6/10 - 1
12-6925251-A-G c.637A>G p.Lys213Glu Missense 6/10 - 2
12-6925251-AA-GC c.637_638delinsGC p.Lys213Ala Missense 6/10 - 1
12-6925253-G-A c.639G>A p.Lys213Lys Synonymous 6/10 - 1
12-6925255-A-C c.641A>C p.Lys214Thr Missense 6/10 - 1
12-6925267-A-T c.653A>T p.Gln218Leu Missense 6/10 - 1
12-6925277-C-A c.663C>A p.Phe221Leu Missense 6/10 - 1
12-6925277-C-G c.663C>G p.Phe221Leu Missense 6/10 - 1
12-6925275-T-C c.661T>C p.Phe221Leu Missense 6/10 - 1
12-6925278-T-C c.664T>C p.Ser222Pro Missense 6/10 - 1
12-6925278-T-G c.664T>G p.Ser222Ala Missense 6/10 - 1
12-6925283-C-A c.669C>A p.Phe223Leu Missense 6/10 - 1
12-6925283-C-G c.669C>G p.Phe223Leu Missense 6/10 - 1
12-6925281-TT-GC c.667_668delinsGC p.Phe223Ala Missense 6/10 - 1
12-6925281-T-C c.667T>C p.Phe223Leu Missense 6/10 - 1
12-6925282-T-A c.668T>A p.Phe223Tyr Missense 6/10 - 4
12-6925282-TC-GG c.668_669delinsGG p.Phe223Trp Missense 6/10 - 1
12-6925284-C-T c.670C>T p.Pro224Ser Missense 6/10 - 1
12-6925284-C-G c.670C>G p.Pro224Ala Missense 6/10 - 2
12-6925287-CT-GC c.673_674delinsGC p.Leu225Ala Missense 6/10 - 1
12-6925291-C-T c.677C>T p.Ala226Val Missense 6/10 - 17
12-6925295-T-G c.681T>G p.Phe227Leu Missense 6/10 - 69
12-6925295-T-A c.681T>A p.Phe227Leu Missense 6/10 - 69
12-6925293-TT-GC c.679_680delinsGC p.Phe227Ala Missense 6/10 - 2
12-6925293-T-G c.679T>G p.Phe227Val Missense 6/10 - 3
12-6925293-T-C c.679T>C p.Phe227Leu Missense 6/10 - 69
12-6925294-TT-AA c.680_681inv p.Phe227* Nonsense 6/10 - 1
12-6925294-T-C c.680T>C p.Phe227Ser Missense 6/10 - 1
12-6925294-T-G c.680T>G p.Phe227Cys Missense 6/10 - 27
12-6925295-T-C c.681T>C p.Phe227Phe Synonymous 6/10 - 2
12-6925296-A-C c.682A>C p.Thr228Pro Missense 6/10 - 1
12-6925296-A-G c.682A>G p.Thr228Ala Missense 6/10 - 2
12-6925300-T-G c.686T>G p.Val229Gly Missense 6/10 - 1
12-6925303-A-C c.689A>C p.Glu230Ala Missense 6/10 - 1
12-6925305-A-G c.691A>G p.Lys231Glu Missense 6/10 - 1
12-6925311-A-C c.697A>C p.Thr233Pro Missense 6/10 - 1
12-6925312-C-T c.698C>T p.Thr233Met Missense 6/10 - 1
12-6925315-G-A c.701G>A p.Gly234Asp Missense 6/10 - 1
12-6925320-GGC-TGG c.706_708delinsTGG p.Gly236Trp Missense 6/10 - 1
12-6925320-G-C c.706G>C p.Gly236Arg Missense 6/10 - 7
12-6925321-G-C c.707G>C p.Gly236Ala Missense 6/10 - 8
12-6925321-GGCG-G c.707_709del p.Gly236del InFrameDeletion 6/10 - 2
12-6925322-GC-G c.708del p.Glu237Serfs*20 Frameshift 6/10 - 1
12-6925324-A-G c.710A>G p.Glu237Gly Missense 6/10 - 2
12-6925329-TG-GC c.715_716delinsGC p.Trp239Ala Missense 6/10 - 1
12-6925332-T-C c.718T>C p.Trp240Arg Missense 6/10 - 2
12-6925332-T-A c.718T>A p.Trp240Arg Missense 6/10 - 2
12-6925335-GCAG-G c.721_723del p.Gln241del InFrameDeletion 6/10 - 1
12-6925340-G-GAACCCATGC c.726_727insAACCCATGC p.Ala242_Glu243insAsnProCys InFrameInsertion 6/10 - 1
12-6925343-G-GGTATCTTG c.729_730insGTATCTTG p.Arg244Valfs*3 Frameshift 6/10 - 1
12-6925344-GAGG-G c.730_732del p.Arg244del InFrameDeletion 6/10 - 1
12-6925345-G-GTTGTCCCAC c.731_732insTTGTCCCAC p.Arg244delinsSerCysProThr MultiAAMissense 6/10 - 1
12-6925347-G-A c.733G>A p.Ala245Thr Missense 6/10 - 2
12-6925348-C-T c.734C>T p.Ala245Val Missense 6/10 - 8
12-6925350-T-G c.736T>G p.Ser246Ala Missense 6/10 - 1
12-6925351-C-A c.737C>A p.Ser246Tyr Missense 6/10 - 1
12-6925351-C-T c.737C>T p.Ser246Phe Missense 6/10 - 1
12-6925356-TC-AA c.742_743delinsAA p.Ser248Asn Missense 6/10 - 2
12-6925357-C-T c.743C>T p.Ser248Phe Missense 6/10 - 1
12-6925359-A-C c.745A>C p.Lys249Gln Missense 6/10 - 1
12-6925360-A-G c.746A>G p.Lys249Arg Missense 6/10 - 1
12-6925362-T-G c.748T>G p.Ser250Ala Missense 6/10 - 1
12-6925362-TC-GA c.748_749inv p.Ser250Asp Missense 6/10 - 1
12-6925367-GG-G c.753del p.Trp251* Frameshift 6/10 - 1
12-6925371-ACC-TAA c.757_759delinsTAA p.Thr253* Nonsense 6/10 - 1
12-6925371-A-G c.757A>G p.Thr253Ala Missense 6/10 - 2
12-6925378-A-C c.764A>C p.Asp255Ala Missense 6/10 - 1
12-6925378-A-G c.764A>G p.Asp255Gly Missense 6/10 - 1
12-6925386-AA-CC c.772_773delinsCC p.Asn258Pro Missense 6/10 - 1
12-6925391-G-C c.777G>C p.Lys259Asn Missense 6/10 - 1
12-6925391-G-T c.777G>T p.Lys259Asn Missense 6/10 - 1
12-6925393-A-C c.779A>C p.Glu260Ala Missense 6/10 - 1
12-6925393-A-T c.779A>T p.Glu260Val Missense 6/10 - 1
12-6925394-A-C c.780A>C p.Glu260Asp Missense 6/10 - 7
12-6925394-A-T c.780A>T p.Glu260Asp Missense 6/10 - 7
12-6925398-T-G c.784T>G p.Ser262Ala Missense 6/10 - 2
12-6925398-TC-GG c.784_785delinsGG p.Ser262Gly Missense 6/10 - 2
12-6925398-TC-CG c.784_785delinsCG p.Ser262Arg Missense 6/10 - 2
12-6925398-TC-GA c.784_785inv p.Ser262Asp Missense 6/10 - 1
12-6925404-AA-GC c.790_791delinsGC p.Lys264Ala Missense 6/10 - 4
12-6925404-A-G c.790A>G p.Lys264Glu Missense 6/10 - 2
12-6925405-A-G c.791A>G p.Lys264Arg Missense 6/10 - 2
12-6925407-C-T c.793C>T p.Arg265Trp Missense 6/10 - 8
12-6925407-CG-GC c.793_794delinsGC p.Arg265Ala Missense 6/10 - 1
12-6925410-G-A c.796G>A p.Val266Ile Missense 6/10 - 1
12-6925416-C-T c.802C>T p.Gln268* Nonsense 6/10 - 1
12-6925417-A-G c.803A>G p.Gln268Arg Missense 6/10 - 1
12-6925429-T-C c.815T>C p.Leu272Pro Missense 6/10 - 2
12-6925440-A-C c.826A>C p.Lys276Gln Missense 6/10 - 1
12-6925440-A-T c.826A>T p.Lys276* Nonsense 6/10 - 5
12-6925440-A-G c.826A>G p.Lys276Glu Missense 6/10 - 1
12-6925443-A-T c.829A>T p.Lys277* Nonsense 6/10 - 1
12-6925444-A-G c.830A>G p.Lys277Arg Missense 6/10 - 7
12-6925445-G-T c.831G>T p.Lys277Asn Missense 6/10 - 1
12-6925453-T-C c.839T>C p.Leu280Pro Missense 6/10 - 1
12-6925455-CA-GC c.841_842delinsGC p.His281Ala Missense 6/10 - 1
12-6925458-CT-TG c.844_845delinsTG p.Leu282Cys Missense 6/10 - 2
12-6925460-C-A c.846C>A p.Leu282Leu Synonymous 6/10 - 1
12-6925460-C-T c.846C>T p.Leu282Leu Synonymous 6/10 - 1
12-6925460-C-G c.846C>G p.Leu282Leu Synonymous 6/10 - 1
12-6925461-A-C c.847A>C p.Thr283Pro Missense 6/10 - 1
12-6925461-A-G c.847A>G p.Thr283Ala Missense 6/10 - 4
12-6925462-C-A c.848C>A p.Thr283Asn Missense 6/10 - 10
12-6925462-C-T c.848C>T p.Thr283Ile Missense 6/10 - 3
12-6925464-C-T c.850C>T p.Leu284Leu Synonymous 6/10 - 1
12-6925476-TT-GC c.862_863delinsGC p.Leu288Ala Missense 6/10 - 1
12-6925482-C-A c.868C>A p.Gln290Lys Missense 6/10 - 2
12-6925482-CA-TC c.868_869delinsTC p.Gln290Ser Missense 6/10 - 1
12-6925488-G-T c.874G>T p.Ala292Ser Missense 6/10 - 1
12-6925491-G-T c.877G>T p.Gly293Cys Missense 6/10 - 2
12-6925492-G-A c.878G>A p.Gly293Asp Missense 6/10 - 1
12-6925500-AA-CC c.886_887delinsCC p.Asn296Pro Missense 6/10 - 1
12-6925501-A-C c.887A>C p.Asn296Thr Missense 6/10 - 1
12-6925502-C-A c.888C>A p.Asn296Lys Missense 6/10 - 1
12-6925502-C-G c.888C>G p.Asn296Lys Missense 6/10 - 1
12-6925503-C-G c.889C>G p.Leu297Val Missense 6/10 - 1
12-6925503-CT-GC c.889_890delinsGC p.Leu297Ala Missense 6/10 - 1
12-6925513-GCCCT-G c.899_902del p.Ala300Valfs*12 Frameshift 6/10 - 1
12-6925520-A-C c.906A>C p.Glu302Asp Missense 6/10 - 1
12-6925520-A-T c.906A>T p.Glu302Asp Missense 6/10 - 1
12-6925521-GC-AG c.907_908delinsAG p.Ala303Arg Missense 6/10 - 1
12-6925525-A-G c.911A>G p.Lys304Arg Missense 6/10 - 1
12-6925527-A-G c.913A>G p.Thr305Ala Missense 6/10 - 2
12-6925527-A-C c.913A>C p.Thr305Pro Missense 6/10 - 1
12-6925528-C-T c.914C>T p.Thr305Ile Missense 6/10 - 1
12-6925530-GGA-AGC c.916_918delinsAGC p.Gly306Ser Missense 6/10 - 2
12-6925530-GG-CC c.916_917inv p.Gly306Pro Missense 6/10 - 2
12-6925531-G-A c.917G>A p.Gly306Glu Missense 6/10 - 1
12-6925533-A-G c.919A>G p.Lys307Glu Missense 6/10 - 1
12-6925533-AA-GC c.919_920delinsGC p.Lys307Ala Missense 6/10 - 1
12-6925534-A-G c.920A>G p.Lys307Arg Missense 6/10 - 1
12-6925536-T-G c.922T>G p.Leu308Val Missense 6/10 - 2
12-6925542-CA-GC c.928_929delinsGC p.Gln310Ala Missense 6/10 - 1
12-6925544-G-C c.930G>C p.Gln310His Missense 6/10 - 1
12-6925544-G-T c.930G>T p.Gln310His Missense 6/10 - 1
12-6925551-A-G c.937A>G p.Asn313Asp Missense 6/10 - 1
12-6925554-CT-GG c.940_941delinsGG p.Leu314Gly Missense 6/10 - 1
12-6925558-T-C c.944T>C p.Val315Ala Missense 6/10 - 1
12-6925561-T-C c.947T>C p.Val316Ala Missense 6/10 - 2
12-6925565-G-T c.951G>T p.Met317Ile Missense 6/10 - 1
12-6925565-G-A c.951G>A p.Met317Ile Missense 6/10 - 1
12-6925565-G-C c.951G>C p.Met317Ile Missense 6/10 - 1
12-6925566-AG-CA c.952_953delinsCA p.Arg318Gln Missense 6/10 - 1
12-6925569-G-T c.955G>T p.Ala319Ser Missense 6/10 - 3
12-6925569-G-A c.955G>A p.Ala319Thr Missense 6/10 - 3
12-6926298-AC-TT c.958_959delinsTT p.Thr320Phe Missense 7/10 - 1
12-6926298-ACT-TGG c.958_960delinsTGG p.Thr320Trp Missense 7/10 - 1
12-6926298-AC-CT c.958_959delinsCT p.Thr320Leu Missense 7/10 - 2
12-6926299-CT-TG c.959_960delinsTG p.Thr320Met Missense 7/10 - 2
12-6926306-C-A c.966C>A p.Leu322Leu Synonymous 7/10 - 1
12-6926306-C-G c.966C>G p.Leu322Leu Synonymous 7/10 - 1
12-6926306-C-T c.966C>T p.Leu322Leu Synonymous 7/10 - 1
12-6926312-A-T c.972A>T p.Lys324Asn Missense 7/10 - 1
12-6926312-A-C c.972A>C p.Lys324Asn Missense 7/10 - 1
12-6926313-A-G c.973A>G p.Asn325Asp Missense 7/10 - 6
12-6926313-AA-GC c.973_974delinsGC p.Asn325Ala Missense 7/10 - 1
12-6926313-AA-GT c.973_974delinsGT p.Asn325Val Missense 7/10 - 1
12-6926314-A-G c.974A>G p.Asn325Ser Missense 7/10 - 1
12-6926315-T-A c.975T>A p.Asn325Lys Missense 7/10 - 1
12-6926315-T-G c.975T>G p.Asn325Lys Missense 7/10 - 1
12-6926321-C-G c.981C>G p.Thr327Thr Synonymous 7/10 - 1
12-6926325-GA-CC c.985_986delinsCC p.Glu329Pro Missense 7/10 - 1
12-6926328-G-C c.988G>C p.Val330Leu Missense 7/10 - 1
12-6926328-G-T c.988G>T p.Val330Leu Missense 7/10 - 1
12-6926338-C-G c.998C>G p.Pro333Arg Missense 7/10 - 2
12-6926343-TC-AA c.1003_1004delinsAA p.Ser335Asn Missense 7/10 - 1
12-6926343-TCC-CAA c.1003_1005delinsCAA p.Ser335Gln Missense 7/10 - 1
12-6926350-A-G c.1010A>G p.Lys337Arg Missense 7/10 - 1
12-6926352-CT-TC c.1012_1013delinsTC p.Leu338Ser Missense 7/10 - 1
12-6926357-G-T c.1017G>T p.Met339Ile Missense 7/10 - 1
12-6926358-CTG-TTT c.1018_1020delinsTTT p.Leu340Phe Missense 7/10 - 1
12-6926367-AA-GC c.1027_1028delinsGC p.Lys343Ala Missense 7/10 - 2
12-6926367-A-G c.1027A>G p.Lys343Glu Missense 7/10 - 3
12-6926368-A-G c.1028A>G p.Lys343Arg Missense 7/10 - 2
12-6926373-GA-AG c.1033_1034delinsAG p.Glu345Arg Missense 7/10 - 2
12-6926373-G-A c.1033G>A p.Glu345Lys Missense 7/10 - 1
12-6926376-A-T c.1036A>T p.Asn346Tyr Missense 7/10 - 1
12-6926388-A-G c.1048A>G p.Lys350Glu Missense 7/10 - 2
12-6926388-AA-GC c.1048_1049delinsGC p.Lys350Ala Missense 7/10 - 3
12-6926389-A-G c.1049A>G p.Lys350Arg Missense 7/10 - 1
12-6926397-AA-CT c.1057_1058delinsCT p.Lys353Leu Missense 7/10 - 2
12-6926398-A-G c.1058A>G p.Lys353Arg Missense 7/10 - 1
12-6926403-G-A c.1063G>A p.Glu355Lys Missense 7/10 - 2
12-6926415-TG-GC c.1075_1076delinsGC p.Trp359Ala Missense 7/10 - 1
12-6926419-T-C c.1079T>C p.Val360Ala Missense 7/10 - 1
12-6926421-CT-TC c.1081_1082delinsTC p.Leu361Ser Missense 7/10 - 1
12-6926424-AAC-GAG c.1084_1086delinsGAG p.Asn362Glu Missense 7/10 - 1
12-6926424-A-G c.1084A>G p.Asn362Asp Missense 7/10 - 1
12-6926424-AA-GC c.1084_1085delinsGC p.Asn362Ala Missense 7/10 - 1
12-6926424-AAC-CAA c.1084_1086delinsCAA p.Asn362Gln Missense 7/10 - 1
12-6926425-A-C c.1085A>C p.Asn362Thr Missense 7/10 - 1
12-6926425-A-G c.1085A>G p.Asn362Ser Missense 7/10 - 1
12-6926426-C-G c.1086C>G p.Asn362Lys Missense 7/10 - 4
12-6926426-C-A c.1086C>A p.Asn362Lys Missense 7/10 - 4
12-6926427-C-G c.1087C>G p.Pro363Ala Missense 7/10 - 1
12-6926427-CC-AA c.1087_1088delinsAA p.Pro363Asn Missense 7/10 - 23
12-6926433-G-A c.1093G>A p.Ala365Thr Missense 7/10 - 1
12-6926433-G-T c.1093G>T p.Ala365Ser Missense 7/10 - 1
12-6926436-G-A c.1096G>A p.Gly366Arg Missense 7/10 - 2
12-6926436-G-C c.1096G>C p.Gly366Arg Missense 7/10 - 2
12-6926437-G-T c.1097G>T p.Gly366Val Missense 7/10 - 1
12-6926437-G-A c.1097G>A p.Gly366Glu Missense 7/10 - 4
12-6926437-G-C c.1097G>C p.Gly366Ala Missense 7/10 - 4
12-6926448-TG-GC c.1108_1109delinsGC p.Cys370Ala Missense 7/10 - 1
12-6926451-CTG-TGT c.1111_1113delinsTGT p.Leu371Cys Missense 7/10 - 1
12-6926457-AGT-CAA c.1117_1119delinsCAA p.Ser373Gln Missense 7/10 - 1
12-6926457-AG-GC c.1117_1118delinsGC p.Ser373Ala Missense 7/10 - 1
12-6926457-AG-CC c.1117_1118delinsCC p.Ser373Pro Missense 7/10 - 2
12-6926458-G-C c.1118G>C p.Ser373Thr Missense 7/10 - 1
12-6926463-TCG-CAT c.1123_1125delinsCAT p.Ser375His Missense 7/10 - 15
12-6926463-T-A c.1123T>A p.Ser375Thr Missense 7/10 - 8
12-6926463-TCG-AAC c.1123_1125delinsAAC p.Ser375Asn Missense 7/10 - 10
12-6926463-TCG-ATC c.1123_1125delinsATC p.Ser375Ile Missense 7/10 - 4
12-6926463-T-G c.1123T>G p.Ser375Ala Missense 7/10 - 10
12-6926463-TC-AG c.1123_1124delinsAG p.Ser375Arg Missense 7/10 - 3
12-6926463-TC-AT c.1123_1124delinsAT p.Ser375Met Missense 7/10 - 9
12-6926464-CG-AT c.1124_1125delinsAT p.Ser375Tyr Missense 7/10 - 10
12-6926464-C-G c.1124C>G p.Ser375Trp Missense 7/10 - 67
12-6926464-CG-TT c.1124_1125delinsTT p.Ser375Phe Missense 7/10 - 1
12-6926465-G-A c.1125G>A p.Ser375Ser Synonymous 7/10 - 3
12-6926465-G-C c.1125G>C p.Ser375Ser Synonymous 7/10 - 3
12-6926465-G-T c.1125G>T p.Ser375Ser Synonymous 7/10 - 3
12-6926468-GACAGG-G c.1128_1132del p.Gln377Profs*63 Frameshift 7/10 - 1
12-6926469-CA-GC c.1129_1130delinsGC p.Gln377Ala Missense 7/10 - 2
12-6926472-G-A c.1132G>A p.Val378Ile Missense 7/10 - 2
12-6926481-GAA-ATG c.1141_1143delinsATG p.Glu381Met Missense 7/10 - 2
12-6926482-A-C c.1142A>C p.Glu381Ala Missense 7/10 - 2
12-6926484-TC-CG c.1144_1145delinsCG p.Ser382Arg Missense 7/10 - 1
12-6926484-T-G c.1144T>G p.Ser382Ala Missense 7/10 - 1
12-6926487-AA-TG c.1147_1148delinsTG p.Asn383Cys Missense 7/10 - 1
12-6926487-AA-GC c.1147_1148delinsGC p.Asn383Ala Missense 7/10 - 1
12-6926492-C-CT c.1152_1153insT p.Lys385* Nonsense 7/10 - 1
12-6926493-AA-GG c.1153_1154delinsGG p.Lys385Gly Missense 7/10 - 1
12-6926497-GGTAAGGACCCAGGTTCCAAGGCCTCTGCCTCCTGGGCTGCGGGACCTTCCTGTGGTTGG-G c.1156+1_1156+59del - SpliceDonorDeletion - 7/9 1
12-6927587-GTTCTGCCCACATGGTCCACCCCGGTGCAGCCAATGGCCCTGATTGTGCTGGGGGGCGTC-G c.1157_1215del p.Val386Glyfs*36 Unclassified 8/10 - 1
12-6927587-GTTCTGCCCACATGGTCCACCCCGGTGCAG-G c.1157_1185del p.Val386Alafs*46 SpliceAcceptorDeletion 8/10 - 1
12-6927589-C-A c.1159C>A p.Leu387Met Missense 8/10 - 1
12-6927592-CC-GA c.1162_1163delinsGA p.Pro388Asp Missense 8/10 - 11
12-6927592-CC-TG c.1162_1163delinsTG p.Pro388Cys Missense 8/10 - 1
12-6927593-C-G c.1163C>G p.Pro388Arg Missense 8/10 - 1
12-6927596-C-T c.1166C>T p.Thr389Ile Missense 8/10 - 3
12-6927598-TG-GC c.1168_1169delinsGC p.Trp390Ala Missense 8/10 - 2
12-6927607-CC-TA c.1177_1178delinsTA p.Pro393* Nonsense 8/10 - 1
12-6927611-TG-AC c.1181_1182delinsAC p.Val394Asp Missense 8/10 - 4
12-6927617-C-T c.1187C>T p.Pro396Leu Missense 8/10 - 2
12-6927631-GT-AA c.1201_1202delinsAA p.Val401Lys Missense 8/10 - 1
12-6927637-GG-CT c.1207_1208delinsCT p.Gly403Leu Missense 8/10 - 1
12-6927638-G-C c.1208G>C p.Gly403Ala Missense 8/10 - 1
12-6927638-G-T c.1208G>T p.Gly403Val Missense 8/10 - 1
12-6927640-G-C c.1210G>C p.Gly404Arg Missense 8/10 - 1
12-6927640-GG-CT c.1210_1211delinsCT p.Gly404Leu Missense 8/10 - 1
12-6927641-G-A c.1211G>A p.Gly404Asp Missense 8/10 - 1
12-6927647-C-G c.1217C>G p.Ala406Gly Missense 8/10 - 1
12-6927649-GG-CT c.1219_1220delinsCT p.Gly407Leu Missense 8/10 - 1
12-6927653-T-G c.1223T>G p.Leu408Arg Missense 8/10 - 1
12-6927661-T-C c.1231T>C p.Phe411Leu Missense 8/10 - 1
12-6927663-C-G c.1233C>G p.Phe411Leu Missense 8/10 - 1
12-6927663-C-A c.1233C>A p.Phe411Leu Missense 8/10 - 1
12-6927666-T-C c.1236T>C p.Ile412Ile Synonymous 8/10 - 1
12-6927667-GG-CT c.1237_1238delinsCT p.Gly413Leu Missense 8/10 - 1
12-6927670-C-G c.1240C>G p.Leu414Val Missense 8/10 - 1
12-6927673-GG-CT c.1243_1244delinsCT p.Gly415Leu Missense 8/10 - 1
12-6927677-TC-AG c.1247_1248delinsAG p.Ile416Lys Missense 8/10 - 1
12-6927682-T-C c.1252T>C p.Phe418Leu Missense 8/10 - 1
12-6927684-C-G c.1254C>G p.Phe418Leu Missense 8/10 - 1
12-6927684-C-A c.1254C>A p.Phe418Leu Missense 8/10 - 1
12-6927685-T-A c.1255T>A p.Cys419Ser Missense 8/10 - 1
12-6927686-G-C c.1256G>C p.Cys419Ser Missense 8/10 - 1
12-6927688-G-A c.1258G>A p.Val420Ile Missense 8/10 - 2
12-6927698-G-A c.1268G>A p.Arg423Gln Missense 8/10 - 1
12-6927707-G-C c.1277G>C p.Arg426Thr Missense 8/10 - 1
12-6928013-CG-GC c.1279_1280delinsGC p.Arg427Ala Missense 9/10 - 2
12-6928016-C-A c.1282C>A p.Gln428Lys Missense 9/10 - 1
12-6928016-C-T c.1282C>T p.Gln428* Nonsense 9/10 - 1
12-6928016-CA-GC c.1282_1283delinsGC p.Gln428Ala Missense 9/10 - 3
12-6928017-A-G c.1283A>G p.Gln428Arg Missense 9/10 - 1
12-6928019-GC-AG c.1285_1286delinsAG p.Ala429Arg Missense 9/10 - 1
12-6928019-G-C c.1285G>C p.Ala429Pro Missense 9/10 - 1
12-6928023-A-G c.1289A>G p.Glu430Gly Missense 9/10 - 1
12-6928028-AT-GC c.1294_1295delinsGC p.Met432Ala Missense 9/10 - 1
12-6928032-C-T c.1298C>T p.Ser433Phe Missense 9/10 - 1
12-6928040-A-G c.1306A>G p.Lys436Glu Missense 9/10 - 2
12-6928040-AA-GG c.1306_1307delinsGG p.Lys436Gly Missense 9/10 - 1
12-6928041-A-G c.1307A>G p.Lys436Arg Missense 9/10 - 8
12-6928043-AGA-GAC c.1309_1311delinsGAC p.Arg437Asp Missense 9/10 - 1
12-6928046-C-A c.1312C>A p.Leu438Ile Missense 9/10 - 1
12-6928052-AGT-GAG c.1318_1320delinsGAG p.Ser440Glu Missense 9/10 - 1
12-6928053-G-A c.1319G>A p.Ser440Asn Missense 9/10 - 1
12-6928053-GT-AG c.1319_1320delinsAG p.Ser440Lys Missense 9/10 - 1
12-6928052-A-C c.1318A>C p.Ser440Arg Missense 9/10 - 7
12-6928054-T-A c.1320T>A p.Ser440Arg Missense 9/10 - 7
12-6928054-T-G c.1320T>G p.Ser440Arg Missense 9/10 - 7
12-6928059-A-G c.1325A>G p.Lys442Arg Missense 9/10 - 2
12-6928064-A-G c.1330A>G p.Thr444Ala Missense 9/10 - 1
12-6928067-T-G c.1333T>G p.Cys445Gly Missense 9/10 - 1
12-6928067-T-A c.1333T>A p.Cys445Ser Missense 9/10 - 1
12-6928068-G-C c.1334G>C p.Cys445Ser Missense 9/10 - 1
12-6928067-TG-GC c.1333_1334delinsGC p.Cys445Ala Missense 9/10 - 2
12-6928073-T-C c.1339T>C p.Cys447Arg Missense 9/10 - 1
12-6928079-C-A c.1345C>A p.His449Asn Missense 9/10 - 1
12-6928465-C-T c.1347C>T p.His449His Synonymous 10/10 - 2
12-6928466-CGG-TGT c.1348_1350delinsTGT p.Arg450Cys Missense 10/10 - 1
12-6928466-C-T c.1348C>T p.Arg450Trp Missense 10/10 - 1
12-6928466-CG-GC c.1348_1349delinsGC p.Arg450Ala Missense 10/10 - 2
12-6928476-A-G c.1358A>G p.Lys453Arg Missense 10/10 - 1
12-6928478-AC-TA c.1360_1361delinsTA p.Thr454* Nonsense 10/10 - 1
12-6928482-G-C c.1364G>C p.Cys455Ser Missense 10/10 - 1
12-6928481-T-A c.1363T>A p.Cys455Ser Missense 10/10 - 1
12-6928483-GT-G c.1365del p.Cys455* Frameshift 10/10 - 1
12-6928484-AG-TA c.1366_1367delinsTA p.Ser456Tyr Missense 10/10 - 1
12-6928486-C-A c.1368C>A p.Ser456Arg Missense 10/10 - 1
12-6928486-C-T c.1368C>T p.Ser456Ser Synonymous 10/10 - 1
12-6928487-C-G c.1369C>G p.Pro457Ala Missense 10/10 - 1
12-6928491-T-A c.1373T>A p.Ile458Asn Missense 10/10 - 1
12-6928493-TT-T c.1375del p.*459Glufs*26 CdsStopDeletion 10/10 - 1
12-6928747-T-C c.*252T>C - 3-UTRSNV 10/10 - 2
12-6928747-T-A c.*252T>A - 3-UTRSNV 10/10 - 2
12-6929018-A-G c.*523A>G - 3-UTRSNV 10/10 - 1
12-6929912-G-A c.*1417G>A - 3-UTRSNV 10/10 - 1