Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
6-43737983-G-C | c.-461G>C | - | 5-UTRSNV | 1/8 | - | 1 |
6-43737983-G-T | c.-461G>T | - | 5-UTRSNV | 1/8 | - | 1 |
6-43738350-C-G | c.-94C>G | - | 5-UTRSNV | 1/8 | - | 426 |
6-43738393-G-T | c.-51G>T | - | 5-UTRSNV | 1/8 | - | 1 |
6-43738444-C-G | c.1C>G | p.L1? | Missense | 1/8 | - | 1 |
6-43738446-G-A | c.3G>A | p.L1= | Synonymous | 1/8 | - | 1 |
6-43738449-G-A | c.6G>A | p.T2= | Synonymous | 1/8 | - | 15 |
6-43738449-G-C | c.6G>C | p.T2= | Synonymous | 1/8 | - | 15 |
6-43738449-G-GT | c.6_7insT | p.D3* | Nonsense | 1/8 | - | 1 |
6-43738449-G-T | c.6G>T | p.T2= | Synonymous | 1/8 | - | 15 |
6-43738450-GAC-TAA | c.7_9delinsTAA | p.D3* | Nonsense | 1/8 | - | 2 |
6-43738452-C-G | c.9C>G | p.D3E | Missense | 1/8 | - | 1 |
6-43738452-C-T | c.9C>T | p.D3= | Synonymous | 1/8 | - | 8 |
6-43738453-AGA-TGT | c.10_12delinsTGT | p.R4C | Missense | 1/8 | - | 1 |
6-43738453-A-C | c.10A>C | p.R4= | Synonymous | 1/8 | - | 4 |
6-43738455-A-G | c.12A>G | p.R4= | Synonymous | 1/8 | - | 4 |
6-43738458-G-A | c.15G>A | p.Q5= | Synonymous | 1/8 | - | 2 |
6-43738461-A-C | c.18A>C | p.T6= | Synonymous | 1/8 | - | 1 |
6-43738461-A-G | c.18A>G | p.T6= | Synonymous | 1/8 | - | 1 |
6-43738461-A-T | c.18A>T | p.T6= | Synonymous | 1/8 | - | 1 |
6-43738449-GGACA-G | c.19_22del | p.D7Pfs*45 | Frameshift | 1/8 | - | 2 |
6-43738462-G-C | c.19G>C | p.D7H | Missense | 1/8 | - | 1 |
6-43738463-A-T | c.20A>T | p.D7V | Missense | 1/8 | - | 1 |
6-43738464-ACACC-A | c.21_24del | p.D7Efs*45 | Frameshift | 1/8 | - | 1 |
6-43738464-C-T | c.21C>T | p.D7= | Synonymous | 1/8 | - | 4 |
6-43738467-C-A | c.24C>A | p.T8= | Synonymous | 1/8 | - | 2 |
6-43738467-C-G | c.24C>G | p.T8= | Synonymous | 1/8 | - | 1 |
6-43738467-C-T | c.24C>T | p.T8= | Synonymous | 1/8 | - | 2 |
6-43738469-C-T | c.26C>T | p.A9V | Missense | 1/8 | - | 1 |
6-43738470-C-A | c.27C>A | p.A9= | Synonymous | 1/8 | - | 2 |
6-43738470-C-CGA | c.27_28insGA | p.P10Dfs*44 | Frameshift | 1/8 | - | 1 |
6-43738470-C-G | c.27C>G | p.A9= | Synonymous | 1/8 | - | 2 |
6-43738470-C-T | c.27C>T | p.A9= | Synonymous | 1/8 | - | 2 |
6-43738471-CCC-ATG | c.28_30delinsATG | p.P10M | Missense | 1/8 | - | 1 |
6-43738471-CC-GA | c.28_29delinsGA | p.P10D | Missense | 1/8 | - | 1 |
6-43738471-CC-TG | c.28_29delinsTG | p.P10C | Missense | 1/8 | - | 1 |
6-43738471-CC-TT | c.28_29delinsTT | p.P10F | Missense | 1/8 | - | 1 |
6-43738471-C-G | c.28C>G | p.P10A | Missense | 1/8 | - | 2 |
6-43738471-C-T | c.28C>T | p.P10S | Missense | 1/8 | - | 2 |
6-43738472-C-G | c.29C>G | p.P10R | Missense | 1/8 | - | 1 |
6-43738472-C-T | c.29C>T | p.P10L | Missense | 1/8 | - | 2 |
6-43738473-C-A | c.30C>A | p.P10= | Synonymous | 1/8 | - | 2 |
6-43738473-C-G | c.30C>G | p.P10= | Synonymous | 1/8 | - | 2 |
6-43738473-C-T | c.30C>T | p.P10= | Synonymous | 1/8 | - | 2 |
6-43738474-A-G | c.31A>G | p.S11G | Missense | 1/8 | - | 13 |
6-43738474-AG-CA | c.31_32delinsCA | p.S11H | Missense | 1/8 | - | 10 |
6-43738474-AG-CC | c.31_32delinsCC | p.S11P | Missense | 1/8 | - | 1 |
6-43738474-AGC-GAG | c.31_33delinsGAG | p.S11E | Missense | 1/8 | - | 36 |
6-43738474-AG-CT | c.31_32inv | p.S11L | Missense | 1/8 | - | 3 |
6-43738474-AGC-TGA | c.31_33delinsTGA | p.S11* | Nonsense | 1/8 | - | 1 |
6-43738474-AG-GA | c.31_32delinsGA | p.S11D | Missense | 1/8 | - | 56 |
6-43738474-AG-GC | c.31_32delinsGC | p.S11A | Missense | 1/8 | - | 173 |
6-43738474-AG-TT | c.31_32delinsTT | p.S11F | Missense | 1/8 | - | 24 |
6-43738474-A-T | c.31A>T | p.S11C | Missense | 1/8 | - | 90 |
6-43738475-G-A | c.32G>A | p.S11N | Missense | 1/8 | - | 1 |
6-43738475-G-C | c.32G>C | p.S11T | Missense | 1/8 | - | 1 |
6-43738475-GC-AG | c.32_33delinsAG | p.S11K | Missense | 1/8 | - | 4 |
6-43738475-GC-TG | c.32_33delinsTG | p.S11M | Missense | 1/8 | - | 1 |
6-43738475-G-T | c.32G>T | p.S11I | Missense | 1/8 | - | 6 |
6-43738477-C-A | c.34C>A | p.P12T | Missense | 1/8 | - | 2 |
6-43738477-CC-AT | c.34_35delinsAT | p.P12I | Missense | 1/8 | - | 2 |
6-43738477-CC-TG | c.34_35delinsTG | p.P12C | Missense | 1/8 | - | 2 |
6-43738477-C-G | c.34C>G | p.P12A | Missense | 1/8 | - | 34 |
6-43738477-C-T | c.34C>T | p.P12S | Missense | 1/8 | - | 1 |
6-43738478-C-A | c.35C>A | p.P12H | Missense | 1/8 | - | 1 |
6-43738478-C-G | c.35C>G | p.P12R | Missense | 1/8 | - | 1 |
6-43738478-C-T | c.35C>T | p.P12L | Missense | 1/8 | - | 1 |
6-43738479-C-A | c.36C>A | p.P12= | Synonymous | 1/8 | - | 2 |
6-43738479-C-G | c.36C>G | p.P12= | Synonymous | 1/8 | - | 2 |
6-43738479-C-T | c.36C>T | p.P12= | Synonymous | 1/8 | - | 2 |
6-43738480-A-G | c.37A>G | p.S13G | Missense | 1/8 | - | 3 |
6-43738480-AG-CA | c.37_38delinsCA | p.S13H | Missense | 1/8 | - | 2 |
6-43738480-AGC-GAG | c.37_39delinsGAG | p.S13E | Missense | 1/8 | - | 13 |
6-43738480-AG-GA | c.37_38delinsGA | p.S13D | Missense | 1/8 | - | 16 |
6-43738480-AG-GC | c.37_38delinsGC | p.S13A | Missense | 1/8 | - | 72 |
6-43738480-AG-TT | c.37_38delinsTT | p.S13F | Missense | 1/8 | - | 5 |
6-43738480-A-T | c.37A>T | p.S13C | Missense | 1/8 | - | 30 |
6-43738481-G-A | c.38G>A | p.S13N | Missense | 1/8 | - | 1 |
6-43738481-G-C | c.38G>C | p.S13T | Missense | 1/8 | - | 1 |
6-43738481-G-T | c.38G>T | p.S13I | Missense | 1/8 | - | 5 |
6-43738482-C-T | c.39C>T | p.S13= | Synonymous | 1/8 | - | 1 |
6-43738483-TA-CG | c.40_41delinsCG | p.Y14R | Missense | 1/8 | - | 1 |
6-43738483-TA-GC | c.40_41delinsGC | p.Y14A | Missense | 1/8 | - | 2 |
6-43738483-T-C | c.40T>C | p.Y14H | Missense | 1/8 | - | 1 |
6-43738483-T-G | c.40T>G | p.Y14D | Missense | 1/8 | - | 4 |
6-43738484-A-T | c.41A>T | p.Y14F | Missense | 1/8 | - | 6 |
6-43738486-C-A | c.43C>A | p.H15N | Missense | 1/8 | - | 2 |
6-43738486-CA-GC | c.43_44delinsGC | p.H15A | Missense | 1/8 | - | 3 |
6-43738486-CA-TG | c.43_44inv | p.H15C | Missense | 1/8 | - | 1 |
6-43738486-C-T | c.43C>T | p.H15Y | Missense | 1/8 | - | 1 |
6-43738487-A-C | c.44A>C | p.H15P | Missense | 1/8 | - | 2 |
6-43738487-A-G | c.44A>G | p.H15R | Missense | 1/8 | - | 1 |
6-43738489-CT-GC | c.46_47delinsGC | p.L16A | Missense | 1/8 | - | 1 |
6-43738492-CTC-GAG | c.49_51inv | p.L17E | Missense | 1/8 | - | 2 |
6-43738492-CT-GC | c.49_50delinsGC | p.L17A | Missense | 1/8 | - | 1 |
6-43738492-CT-TG | c.49_50delinsTG | p.L17C | Missense | 1/8 | - | 1 |
6-43738493-T-A | c.50T>A | p.L17H | Missense | 1/8 | - | 4 |
6-43738493-T-C | c.50T>C | p.L17P | Missense | 1/8 | - | 1 |
6-43738493-T-G | c.50T>G | p.L17R | Missense | 1/8 | - | 1 |
6-43738495-C-G | c.52C>G | p.P18A | Missense | 1/8 | - | 1 |
6-43738495-C-T | c.52C>T | p.P18S | Missense | 1/8 | - | 1 |
6-43738496-C-G | c.53C>G | p.P18R | Missense | 1/8 | - | 1 |
6-43738497-C-A | c.54C>A | p.P18= | Synonymous | 1/8 | - | 1 |
6-43738497-C-G | c.54C>G | p.P18= | Synonymous | 1/8 | - | 1 |
6-43738497-C-T | c.54C>T | p.P18= | Synonymous | 1/8 | - | 1 |
6-43738499-G-C | c.56G>C | p.G19A | Missense | 1/8 | - | 3 |
6-43738501-CG-AT | c.58_59delinsAT | p.R20M | Missense | 1/8 | - | 1 |
6-43738501-CGG-AAC | c.58_60delinsAAC | p.R20N | Missense | 1/8 | - | 1 |
6-43738501-CG-GC | c.58_59delinsGC | p.R20A | Missense | 1/8 | - | 2 |
6-43738502-G-C | c.59G>C | p.R20P | Missense | 1/8 | - | 1 |
6-43738502-G-T | c.59G>T | p.R20L | Missense | 1/8 | - | 1 |
6-43738504-C-G | c.61C>G | p.R21G | Missense | 1/8 | - | 2 |
6-43738504-CG-AC | c.61_62delinsAC | p.R21T | Missense | 1/8 | - | 1 |
6-43738504-CG-GA | c.61_62delinsGA | p.R21E | Missense | 1/8 | - | 1 |
6-43738504-CGG-ATC | c.61_63delinsATC | p.R21I | Missense | 1/8 | - | 1 |
6-43738504-CG-GC | c.61_62delinsGC | p.R21A | Missense | 1/8 | - | 1 |
6-43738504-CGG-TGT | c.61_63delinsTGT | p.R21C | Missense | 1/8 | - | 4 |
6-43738504-CG-TA | c.61_62delinsTA | p.R21* | Nonsense | 1/8 | - | 1 |
6-43738500-CCGG-C | c.64_66del | p.R22del | InFrameDeletion | 1/8 | - | 1 |
6-43738507-C-A | c.64C>A | p.R22= | Synonymous | 1/8 | - | 3 |
6-43738507-CG-GA | c.64_65delinsGA | p.R22E | Missense | 1/8 | - | 2 |
6-43738507-CGG-ATC | c.64_66delinsATC | p.R22I | Missense | 1/8 | - | 1 |
6-43738507-CG-GC | c.64_65delinsGC | p.R22A | Missense | 1/8 | - | 4 |
6-43738507-CGG-TAT | c.64_66delinsTAT | p.R22Y | Missense | 1/8 | - | 1 |
6-43738507-CG-TA | c.64_65delinsTA | p.R22* | Nonsense | 1/8 | - | 4 |
6-43738509-G-A | c.66G>A | p.R22= | Synonymous | 1/8 | - | 3 |
6-43738509-G-C | c.66G>C | p.R22= | Synonymous | 1/8 | - | 3 |
6-43738509-G-T | c.66G>T | p.R22= | Synonymous | 1/8 | - | 3 |
6-43738508-G-A | c.65G>A | p.R22Q | Missense | 1/8 | - | 1 |
6-43738508-G-T | c.65G>T | p.R22L | Missense | 1/8 | - | 2 |
6-43738510-A-T | c.67A>T | p.T23S | Missense | 1/8 | - | 1 |
6-43738511-C-A | c.68C>A | p.T23K | Missense | 1/8 | - | 1 |
6-43738511-CA-AC | c.68_69delinsAC | p.T23N | Missense | 1/8 | - | 2 |
6-43738511-C-T | c.68C>T | p.T23I | Missense | 1/8 | - | 2 |
6-43738512-A-C | c.69A>C | p.T23= | Synonymous | 1/8 | - | 1 |
6-43738512-A-G | c.69A>G | p.T23= | Synonymous | 1/8 | - | 1 |
6-43738512-A-T | c.69A>T | p.T23= | Synonymous | 1/8 | - | 1 |
6-43738513-GT-CC | c.70_71delinsCC | p.V24P | Missense | 1/8 | - | 1 |
6-43738513-GTG-TGT | c.70_72delinsTGT | p.V24C | Missense | 1/8 | - | 2 |
6-43738514-T-A | c.71T>A | p.V24E | Missense | 1/8 | - | 1 |
6-43738516-GA-TG | c.73_74delinsTG | p.D25C | Missense | 1/8 | - | 1 |
6-43738516-G-T | c.73G>T | p.D25Y | Missense | 1/8 | - | 1 |
6-43738518-C-A | c.75C>A | p.D25E | Missense | 1/8 | - | 1 |
6-43738518-C-G | c.75C>G | p.D25E | Missense | 1/8 | - | 1 |
6-43738518-C-T | c.75C>T | p.D25= | Synonymous | 1/8 | - | 2 |
6-43738519-GCG-CAT | c.76_78delinsCAT | p.A26H | Missense | 1/8 | - | 1 |
6-43738519-GCG-TGT | c.76_78delinsTGT | p.A26C | Missense | 1/8 | - | 3 |
6-43738519-GCG-TTT | c.76_78delinsTTT | p.A26F | Missense | 1/8 | - | 2 |
6-43738519-GC-TA | c.76_77delinsTA | p.A26* | Nonsense | 1/8 | - | 1 |
6-43738519-GC-TG | c.76_77delinsTG | p.A26W | Missense | 1/8 | - | 1 |
6-43738520-C-A | c.77C>A | p.A26E | Missense | 1/8 | - | 2 |
6-43738520-CG-AC | c.77_78delinsAC | p.A26D | Missense | 1/8 | - | 2 |
6-43738520-C-T | c.77C>T | p.A26V | Missense | 1/8 | - | 2 |
6-43738521-G-A | c.78G>A | p.A26= | Synonymous | 1/8 | - | 2 |
6-43738521-G-C | c.78G>C | p.A26= | Synonymous | 1/8 | - | 2 |
6-43738521-G-T | c.78G>T | p.A26= | Synonymous | 1/8 | - | 2 |
6-43738522-GC-CT | c.79_80delinsCT | p.A27L | Missense | 1/8 | - | 3 |
6-43738522-GCG-TGT | c.79_81delinsTGT | p.A27C | Missense | 1/8 | - | 1 |
6-43738522-GCG-TTT | c.79_81delinsTTT | p.A27F | Missense | 1/8 | - | 3 |
6-43738522-G-T | c.79G>T | p.A27S | Missense | 1/8 | - | 1 |
6-43738523-C-G | c.80C>G | p.A27G | Missense | 1/8 | - | 1 |
6-43738523-CG-AC | c.80_81delinsAC | p.A27D | Missense | 1/8 | - | 1 |
6-43738524-G-A | c.81G>A | p.A27= | Synonymous | 1/8 | - | 1 |
6-43738524-G-C | c.81G>C | p.A27= | Synonymous | 1/8 | - | 1 |
6-43738524-G-T | c.81G>T | p.A27= | Synonymous | 1/8 | - | 1 |
6-43738525-GC-AA | c.82_83delinsAA | p.A28K | Missense | 1/8 | - | 2 |
6-43738525-GC-AG | c.82_83delinsAG | p.A28R | Missense | 1/8 | - | 1 |
6-43738525-GC-AT | c.82_83delinsAT | p.A28M | Missense | 1/8 | - | 1 |
6-43738525-GC-CA | c.82_83delinsCA | p.A28Q | Missense | 1/8 | - | 1 |
6-43738525-GCG-TGT | c.82_84delinsTGT | p.A28C | Missense | 1/8 | - | 3 |
6-43738525-GCG-TTT | c.82_84delinsTTT | p.A28F | Missense | 1/8 | - | 5 |
6-43738525-GC-TA | c.82_83delinsTA | p.A28* | Nonsense | 1/8 | - | 1 |
6-43738526-C-A | c.83C>A | p.A28E | Missense | 1/8 | - | 1 |
6-43738526-C-G | c.83C>G | p.A28G | Missense | 1/8 | - | 7 |
6-43738526-CG-AC | c.83_84delinsAC | p.A28D | Missense | 1/8 | - | 2 |
6-43738526-C-T | c.83C>T | p.A28V | Missense | 1/8 | - | 5 |
6-43738527-G-A | c.84G>A | p.A28= | Synonymous | 1/8 | - | 2 |
6-43738527-G-C | c.84G>C | p.A28= | Synonymous | 1/8 | - | 2 |
6-43738527-G-T | c.84G>T | p.A28= | Synonymous | 1/8 | - | 2 |
6-43738528-AG-GA | c.85_86delinsGA | p.S29D | Missense | 1/8 | - | 2 |
6-43738528-AG-GC | c.85_86delinsGC | p.S29A | Missense | 1/8 | - | 1 |
6-43738528-A-T | c.85A>T | p.S29C | Missense | 1/8 | - | 1 |
6-43738531-CG-AC | c.88_89delinsAC | p.R30T | Missense | 1/8 | - | 1 |
6-43738531-CG-GA | c.88_89delinsGA | p.R30D | Missense | 1/8 | - | 1 |
6-43738531-CG-GC | c.88_89delinsGC | p.R30A | Missense | 1/8 | - | 5 |
6-43738531-C-T | c.88C>T | p.R30C | Missense | 1/8 | - | 2 |
6-43738532-GC-AA | c.89_90delinsAA | p.R30Q | Missense | 1/8 | - | 6 |
6-43738533-C-A | c.90C>A | p.R30= | Synonymous | 1/8 | - | 1 |
6-43738533-C-G | c.90C>G | p.R30= | Synonymous | 1/8 | - | 1 |
6-43738533-C-T | c.90C>T | p.R30= | Synonymous | 1/8 | - | 1 |
6-43738534-GG-CC | c.91_92inv | p.G31P | Missense | 1/8 | - | 9 |
6-43738535-G-C | c.92G>C | p.G31A | Missense | 1/8 | - | 1 |
6-43738537-C-A | c.94C>A | p.Q32K | Missense | 1/8 | - | 1 |
6-43738541-G-C | c.98G>C | p.G33A | Missense | 1/8 | - | 1 |
6-43738546-GAG-CAT | c.103_105delinsCAT | p.E35H | Missense | 1/8 | - | 2 |
6-43738546-GAG-TTT | c.103_105delinsTTT | p.E35F | Missense | 1/8 | - | 1 |
6-43738546-G-C | c.103G>C | p.E35Q | Missense | 1/8 | - | 1 |
6-43738548-G-C | c.105G>C | p.E35D | Missense | 1/8 | - | 2 |
6-43738548-G-T | c.105G>T | p.E35D | Missense | 1/8 | - | 2 |
6-43738549-CCC-AAG | c.106_108delinsAAG | p.P36K | Missense | 1/8 | - | 1 |
6-43738550-C-A | c.107C>A | p.P36H | Missense | 1/8 | - | 1 |
6-43738550-C-G | c.107C>G | p.P36R | Missense | 1/8 | - | 1 |
6-43738550-C-T | c.107C>T | p.P36L | Missense | 1/8 | - | 1 |
6-43738551-C-A | c.108C>A | p.P36= | Synonymous | 1/8 | - | 3 |
6-43738551-C-G | c.108C>G | p.P36= | Synonymous | 1/8 | - | 3 |
6-43738551-C-T | c.108C>T | p.P36= | Synonymous | 1/8 | - | 3 |
6-43738552-G-A | c.109G>A | p.A37T | Missense | 1/8 | - | 1 |
6-43738552-GC-AA | c.109_110delinsAA | p.A37K | Missense | 1/8 | - | 2 |
6-43738552-GCG-TGT | c.109_111delinsTGT | p.A37C | Missense | 1/8 | - | 2 |
6-43738553-CG-AC | c.110_111delinsAC | p.A37D | Missense | 1/8 | - | 1 |
6-43738554-G-A | c.111G>A | p.A37= | Synonymous | 1/8 | - | 2 |
6-43738554-G-C | c.111G>C | p.A37= | Synonymous | 1/8 | - | 3 |
6-43738554-G-T | c.111G>T | p.A37= | Synonymous | 1/8 | - | 3 |
6-43738555-C-A | c.112C>A | p.P38T | Missense | 1/8 | - | 1 |
6-43738555-CC-AT | c.112_113delinsAT | p.P38I | Missense | 1/8 | - | 23 |
6-43738555-CCC-AAG | c.112_114delinsAAG | p.P38K | Missense | 1/8 | - | 16 |
6-43738555-CCC-ATG | c.112_114delinsATG | p.P38M | Missense | 1/8 | - | 1 |
6-43738555-CCC-TAA | c.112_114delinsTAA | p.P38* | Nonsense | 1/8 | - | 2 |
6-43738555-CC-GA | c.112_113delinsGA | p.P38D | Missense | 1/8 | - | 5 |
6-43738555-CC-GG | c.112_113inv | p.P38G | Missense | 1/8 | - | 5 |
6-43738555-CC-TA | c.112_113delinsTA | p.P38Y | Missense | 1/8 | - | 1 |
6-43738555-CC-TG | c.112_113delinsTG | p.P38C | Missense | 1/8 | - | 4 |
6-43738555-C-G | c.112C>G | p.P38A | Missense | 1/8 | - | 53 |
6-43738555-C-T | c.112C>T | p.P38S | Missense | 1/8 | - | 14 |
6-43738557-C-A | c.114C>A | p.P38= | Synonymous | 1/8 | - | 1 |
6-43738557-C-G | c.114C>G | p.P38= | Synonymous | 1/8 | - | 1 |
6-43738557-C-T | c.114C>T | p.P38= | Synonymous | 1/8 | - | 1 |
6-43738558-G-A | c.115G>A | p.G39R | Missense | 1/8 | - | 1 |
6-43738558-G-T | c.115G>T | p.G39* | Nonsense | 1/8 | - | 1 |
6-43738559-G-C | c.116G>C | p.G39A | Missense | 1/8 | - | 5 |
6-43738559-G-T | c.116G>T | p.G39V | Missense | 1/8 | - | 1 |
6-43738560-A-C | c.117A>C | p.G39= | Synonymous | 1/8 | - | 1 |
6-43738560-A-G | c.117A>G | p.G39= | Synonymous | 1/8 | - | 1 |
6-43738560-A-T | c.117A>T | p.G39= | Synonymous | 1/8 | - | 1 |
6-43738561-G-A | c.118G>A | p.G40S | Missense | 1/8 | - | 1 |
6-43738562-G-A | c.119G>A | p.G40D | Missense | 1/8 | - | 1 |
6-43738562-G-C | c.119G>C | p.G40A | Missense | 1/8 | - | 1 |
6-43738564-G-A | c.121G>A | p.G41R | Missense | 1/8 | - | 3 |
6-43738564-G-C | c.121G>C | p.G41R | Missense | 1/8 | - | 2 |
6-43738564-GGG-AGC | c.121_123delinsAGC | p.G41S | Missense | 1/8 | - | 1 |
6-43738564-GGG-TGT | c.121_123delinsTGT | p.G41C | Missense | 1/8 | - | 1 |
6-43738564-G-T | c.121G>T | p.G41W | Missense | 1/8 | - | 2 |
6-43738565-G-C | c.122G>C | p.G41A | Missense | 1/8 | - | 1 |
6-43738567-G-T | c.124G>T | p.V42L | Missense | 1/8 | - | 1 |
6-43738567-GTG-TTT | c.124_126delinsTTT | p.V42F | Missense | 1/8 | - | 1 |
6-43738568-T-G | c.125T>G | p.V42G | Missense | 1/8 | - | 2 |
6-43738570-G-A | c.127G>A | p.E43K | Missense | 1/8 | - | 1 |
6-43738570-GAG-AAC | c.127_129delinsAAC | p.E43N | Missense | 1/8 | - | 1 |
6-43738571-A-T | c.128A>T | p.E43V | Missense | 1/8 | - | 1 |
6-43738573-GGG-TGT | c.130_132delinsTGT | p.G44C | Missense | 1/8 | - | 1 |
6-43738573-G-T | c.130G>T | p.G44W | Missense | 1/8 | - | 1 |
6-43738574-G-A | c.131G>A | p.G44E | Missense | 1/8 | - | 3 |
6-43738574-GG-AC | c.131_132delinsAC | p.G44D | Missense | 1/8 | - | 1 |
6-43738576-GTC-AAG | c.133_135delinsAAG | p.V45K | Missense | 1/8 | - | 1 |
6-43738582-GC-TT | c.139_140delinsTT | p.A47F | Missense | 1/8 | - | 2 |
6-43738582-G-T | c.139G>T | p.A47S | Missense | 1/8 | - | 1 |
6-43738583-C-A | c.140C>A | p.A47D | Missense | 1/8 | - | 2 |
6-43738583-C-G | c.140C>G | p.A47G | Missense | 1/8 | - | 1 |
6-43738583-CT-AG | c.140_141inv | p.A47E | Missense | 1/8 | - | 1 |
6-43738584-T-A | c.141T>A | p.A47= | Synonymous | 1/8 | - | 2 |
6-43738584-T-C | c.141T>C | p.A47= | Synonymous | 1/8 | - | 2 |
6-43738584-T-G | c.141T>G | p.A47= | Synonymous | 1/8 | - | 2 |
6-43738585-CGC-TGG | c.142_144delinsTGG | p.R48W | Missense | 1/8 | - | 1 |
6-43738585-CG-GC | c.142_143delinsGC | p.R48A | Missense | 1/8 | - | 1 |
6-43738585-C-T | c.142C>T | p.R48C | Missense | 1/8 | - | 4 |
6-43738586-G-A | c.143G>A | p.R48H | Missense | 1/8 | - | 1 |
6-43738587-GC-G | c.144del | p.G49Afs*4 | Frameshift | 1/8 | - | 1 |
6-43738588-GG-AC | c.145_146delinsAC | p.G49T | Missense | 1/8 | - | 1 |
6-43738589-G-C | c.146G>C | p.G49A | Missense | 1/8 | - | 1 |
6-43738589-GC-AG | c.146_147delinsAG | p.G49E | Missense | 1/8 | - | 1 |
6-43738591-G-A | c.148G>A | p.V50I | Missense | 1/8 | - | 2 |
6-43738591-GTC-TAA | c.148_150delinsTAA | p.V50* | Nonsense | 1/8 | - | 1 |
6-43738592-T-C | c.149T>C | p.V50A | Missense | 1/8 | - | 1 |
6-43738593-C-A | c.150C>A | p.V50= | Synonymous | 1/8 | - | 1 |
6-43738593-C-G | c.150C>G | p.V50= | Synonymous | 1/8 | - | 1 |
6-43738593-C-T | c.150C>T | p.V50= | Synonymous | 1/8 | - | 1 |
6-43738594-G-A | c.151G>A | p.A51T | Missense | 1/8 | - | 2 |
6-43738594-GC-AA | c.151_152delinsAA | p.A51K | Missense | 1/8 | - | 1 |
6-43738594-GCA-AAC | c.151_153delinsAAC | p.A51N | Missense | 1/8 | - | 1 |
6-43738594-GCA-CAT | c.151_153delinsCAT | p.A51H | Missense | 1/8 | - | 1 |
6-43738594-GC-AG | c.151_152delinsAG | p.A51R | Missense | 1/8 | - | 2 |
6-43738594-GCA-TTT | c.151_153delinsTTT | p.A51F | Missense | 1/8 | - | 3 |
6-43738595-C-A | c.152C>A | p.A51E | Missense | 1/8 | - | 4 |
6-43738595-C-G | c.152C>G | p.A51G | Missense | 1/8 | - | 2 |
6-43738596-A-C | c.153A>C | p.A51= | Synonymous | 1/8 | - | 4 |
6-43738596-A-G | c.153A>G | p.A51= | Synonymous | 1/8 | - | 4 |
6-43738596-A-T | c.153A>T | p.A51= | Synonymous | 1/8 | - | 4 |
6-43738597-C-G | c.154C>G | p.L52V | Missense | 1/8 | - | 1 |
6-43738598-T-C | c.155T>C | p.L52P | Missense | 1/8 | - | 2 |
6-43738598-T-G | c.155T>G | p.L52R | Missense | 1/8 | - | 1 |
6-43738599-G-T | c.156G>T | p.L52= | Synonymous | 1/8 | - | 1 |
6-43738600-A-C | c.157A>C | p.K53Q | Missense | 1/8 | - | 1 |
6-43738600-A-G | c.157A>G | p.K53E | Missense | 1/8 | - | 1 |
6-43738601-AA-TG | c.158_159delinsTG | p.K53M | Missense | 1/8 | - | 1 |
6-43738601-A-G | c.158A>G | p.K53R | Missense | 1/8 | - | 2 |
6-43738602-A-G | c.159A>G | p.K53= | Synonymous | 1/8 | - | 1 |
6-43738603-C-G | c.160C>G | p.L54V | Missense | 1/8 | - | 1 |
6-43738603-C-T | c.160C>T | p.L54F | Missense | 1/8 | - | 3 |
6-43738604-T-C | c.161T>C | p.L54P | Missense | 1/8 | - | 1 |
6-43738606-TT-GG | c.163_164delinsGG | p.F55G | Missense | 1/8 | - | 1 |
6-43738608-C-T | c.165C>T | p.F55= | Synonymous | 1/8 | - | 1 |
6-43738608-C-CG | c.166dup | p.V56Gfs*29 | Frameshift | 1/8 | - | 1 |
6-43738609-G-A | c.166G>A | p.V56I | Missense | 1/8 | - | 1 |
6-43738612-CA-GC | c.169_170delinsGC | p.Q57A | Missense | 1/8 | - | 1 |
6-43738614-A-C | c.171A>C | p.Q57H | Missense | 1/8 | - | 7 |
6-43738614-A-T | c.171A>T | p.Q57H | Missense | 1/8 | - | 6 |
6-43738616-T-A | c.173T>A | p.L58H | Missense | 1/8 | - | 1 |
6-43738616-T-G | c.173T>G | p.L58R | Missense | 1/8 | - | 1 |
6-43738618-C-A | c.175C>A | p.L59M | Missense | 1/8 | - | 1 |
6-43738619-T-C | c.176T>C | p.L59P | Missense | 1/8 | - | 3 |
6-43738622-G-A | c.179G>A | p.G60D | Missense | 1/8 | - | 2 |
6-43738624-T-A | c.181T>A | p.C61S | Missense | 1/8 | - | 1 |
6-43738624-T-G | c.181T>G | p.C61G | Missense | 1/8 | - | 3 |
6-43738624-TG-GA | c.181_182delinsGA | p.C61D | Missense | 1/8 | - | 1 |
6-43738624-TG-GC | c.181_182delinsGC | p.C61A | Missense | 1/8 | - | 4 |
6-43738625-G-C | c.182G>C | p.C61S | Missense | 1/8 | - | 1 |
6-43738627-T-G | c.184T>G | p.S62A | Missense | 1/8 | - | 1 |
6-43738628-C-T | c.185C>T | p.S62F | Missense | 1/8 | - | 1 |
6-43738630-CGC-AAG | c.187_189delinsAAG | p.R63K | Missense | 1/8 | - | 1 |
6-43738630-CG-GC | c.187_188delinsGC | p.R63A | Missense | 1/8 | - | 1 |
6-43738630-C-T | c.187C>T | p.R63C | Missense | 1/8 | - | 3 |
6-43738632-C-A | c.189C>A | p.R63= | Synonymous | 1/8 | - | 1 |
6-43738632-C-G | c.189C>G | p.R63= | Synonymous | 1/8 | - | 1 |
6-43738632-C-T | c.189C>T | p.R63= | Synonymous | 1/8 | - | 1 |
6-43738633-T-C | c.190T>C | p.F64L | Missense | 1/8 | - | 4 |
6-43738633-TT-GA | c.190_191delinsGA | p.F64D | Missense | 1/8 | - | 1 |
6-43738635-C-A | c.192C>A | p.F64L | Missense | 1/8 | - | 4 |
6-43738635-C-G | c.192C>G | p.F64L | Missense | 1/8 | - | 4 |
6-43738634-T-C | c.191T>C | p.F64S | Missense | 1/8 | - | 1 |
6-43738634-T-G | c.191T>G | p.F64C | Missense | 1/8 | - | 1 |
6-43738635-C-T | c.192C>T | p.F64= | Synonymous | 1/8 | - | 1 |
6-43738636-GGA-AGC | c.193_195delinsAGC | p.G65S | Missense | 1/8 | - | 1 |
6-43738637-G-T | c.194G>T | p.G65V | Missense | 1/8 | - | 1 |
6-43738639-G-A | c.196G>A | p.G66R | Missense | 1/8 | - | 3 |
6-43738639-G-C | c.196G>C | p.G66R | Missense | 1/8 | - | 2 |
6-43738639-GGA-AGC | c.196_198delinsAGC | p.G66S | Missense | 1/8 | - | 2 |
6-43738639-G-T | c.196G>T | p.G66* | Nonsense | 1/8 | - | 1 |
6-43738640-G-A | c.197G>A | p.G66E | Missense | 1/8 | - | 1 |
6-43738640-G-T | c.197G>T | p.G66V | Missense | 1/8 | - | 1 |
6-43738642-GC-TG | c.199_200delinsTG | p.A67C | Missense | 1/8 | - | 1 |
6-43738642-GC-TT | c.199_200delinsTT | p.A67F | Missense | 1/8 | - | 2 |
6-43738643-C-A | c.200C>A | p.A67D | Missense | 1/8 | - | 4 |
6-43738643-CC-AG | c.200_201delinsAG | p.A67E | Missense | 1/8 | - | 1 |
6-43738643-C-T | c.200C>T | p.A67V | Missense | 1/8 | - | 2 |
6-43738644-C-A | c.201C>A | p.A67= | Synonymous | 1/8 | - | 2 |
6-43738644-C-G | c.201C>G | p.A67= | Synonymous | 1/8 | - | 2 |
6-43738644-C-T | c.201C>T | p.A67= | Synonymous | 1/8 | - | 2 |
6-43738645-G-A | c.202G>A | p.V68M | Missense | 1/8 | - | 1 |
6-43738645-GTG-AAC | c.202_204delinsAAC | p.V68N | Missense | 1/8 | - | 1 |
6-43738648-GT-AA | c.205_206delinsAA | p.V69N | Missense | 1/8 | - | 3 |
6-43738649-TC-AG | c.206_207delinsAG | p.V69E | Missense | 1/8 | - | 2 |
6-43738651-C-T | c.208C>T | p.R70C | Missense | 1/8 | - | 1 |
6-43738654-G-C | c.211G>C | p.A71P | Missense | 1/8 | - | 1 |
6-43738654-GCG-TAT | c.211_213delinsTAT | p.A71Y | Missense | 1/8 | - | 1 |
6-43738654-GCG-TGT | c.211_213delinsTGT | p.A71C | Missense | 1/8 | - | 2 |
6-43738654-GCG-TTT | c.211_213delinsTTT | p.A71F | Missense | 1/8 | - | 2 |
6-43738655-C-A | c.212C>A | p.A71E | Missense | 1/8 | - | 1 |
6-43738655-CG-AC | c.212_213delinsAC | p.A71D | Missense | 1/8 | - | 4 |
6-43738656-G-A | c.213G>A | p.A71= | Synonymous | 1/8 | - | 2 |
6-43738656-G-C | c.213G>C | p.A71= | Synonymous | 1/8 | - | 2 |
6-43738656-G-T | c.213G>T | p.A71= | Synonymous | 1/8 | - | 2 |
6-43738657-G-A | c.214G>A | p.G72R | Missense | 1/8 | - | 1 |
6-43738658-G-A | c.215G>A | p.G72E | Missense | 1/8 | - | 1 |
6-43738658-G-C | c.215G>C | p.G72A | Missense | 1/8 | - | 1 |
6-43738661-A-G | c.218A>G | p.E73G | Missense | 1/8 | - | 1 |
6-43738662-A-C | c.219A>C | p.E73D | Missense | 1/8 | - | 1 |
6-43738662-A-G | c.219A>G | p.E73= | Synonymous | 1/8 | - | 1 |
6-43738662-A-T | c.219A>T | p.E73D | Missense | 1/8 | - | 1 |
6-43738663-G-C | c.220G>C | p.A74P | Missense | 1/8 | - | 1 |
6-43738663-GC-TG | c.220_221delinsTG | p.A74C | Missense | 1/8 | - | 1 |
6-43738664-C-A | c.221C>A | p.A74D | Missense | 1/8 | - | 2 |
6-43738664-CC-AG | c.221_222delinsAG | p.A74E | Missense | 1/8 | - | 1 |
6-43738664-C-T | c.221C>T | p.A74V | Missense | 1/8 | - | 2 |
6-43738665-C-A | c.222C>A | p.A74= | Synonymous | 1/8 | - | 1 |
6-43738665-C-G | c.222C>G | p.A74= | Synonymous | 1/8 | - | 1 |
6-43738665-C-T | c.222C>T | p.A74= | Synonymous | 1/8 | - | 1 |
6-43738666-G-A | c.223G>A | p.E75K | Missense | 1/8 | - | 1 |
6-43738667-A-G | c.224A>G | p.E75G | Missense | 1/8 | - | 1 |
6-43738668-G-A | c.225G>A | p.E75= | Synonymous | 1/8 | - | 1 |
6-43738669-C-G | c.226C>G | p.P76A | Missense | 1/8 | - | 1 |
6-43738671-G-A | c.228G>A | p.P76= | Synonymous | 1/8 | - | 1 |
6-43738672-A-G | c.229A>G | p.S77G | Missense | 1/8 | - | 1 |
6-43738672-AGC-TGA | c.229_231delinsTGA | p.S77* | Nonsense | 1/8 | - | 1 |
6-43738672-AG-GC | c.229_230delinsGC | p.S77A | Missense | 1/8 | - | 2 |
6-43738673-G-A | c.230G>A | p.S77N | Missense | 1/8 | - | 1 |
6-43738673-G-T | c.230G>T | p.S77I | Missense | 1/8 | - | 1 |
6-43738674-C-T | c.231C>T | p.S77= | Synonymous | 1/8 | - | 1 |
6-43738675-GG-AT | c.232_233delinsAT | p.G78I | Missense | 1/8 | - | 1 |
6-43738678-GC-TG | c.235_236delinsTG | p.A79C | Missense | 1/8 | - | 1 |
6-43738678-GC-TT | c.235_236delinsTT | p.A79F | Missense | 1/8 | - | 2 |
6-43738679-C-A | c.236C>A | p.A79D | Missense | 1/8 | - | 1 |
6-43738679-CC-AG | c.236_237delinsAG | p.A79E | Missense | 1/8 | - | 1 |
6-43738679-C-G | c.236C>G | p.A79G | Missense | 1/8 | - | 1 |
6-43738680-C-A | c.237C>A | p.A79= | Synonymous | 1/8 | - | 2 |
6-43738680-C-G | c.237C>G | p.A79= | Synonymous | 1/8 | - | 2 |
6-43738680-C-T | c.237C>T | p.A79= | Synonymous | 1/8 | - | 2 |
6-43738681-G-C | c.238G>C | p.A80P | Missense | 1/8 | - | 1 |
6-43738681-GC-AA | c.238_239delinsAA | p.A80K | Missense | 1/8 | - | 1 |
6-43738681-GC-AT | c.238_239delinsAT | p.A80M | Missense | 1/8 | - | 1 |
6-43738681-GC-CA | c.238_239delinsCA | p.A80Q | Missense | 1/8 | - | 1 |
6-43738681-GC-CT | c.238_239delinsCT | p.A80L | Missense | 1/8 | - | 1 |
6-43738681-GCG-AAC | c.238_240delinsAAC | p.A80N | Missense | 1/8 | - | 1 |
6-43738681-GCG-ATC | c.238_240delinsATC | p.A80I | Missense | 1/8 | - | 1 |
6-43738681-GCG-TAT | c.238_240delinsTAT | p.A80Y | Missense | 1/8 | - | 1 |
6-43738681-GCG-TGT | c.238_240delinsTGT | p.A80C | Missense | 1/8 | - | 4 |
6-43738681-GCG-TTT | c.238_240delinsTTT | p.A80F | Missense | 1/8 | - | 2 |
6-43738682-C-A | c.239C>A | p.A80E | Missense | 1/8 | - | 1 |
6-43738682-C-G | c.239C>G | p.A80G | Missense | 1/8 | - | 4 |
6-43738682-CG-AC | c.239_240delinsAC | p.A80D | Missense | 1/8 | - | 2 |
6-43738682-C-T | c.239C>T | p.A80V | Missense | 1/8 | - | 1 |
6-43738683-G-A | c.240G>A | p.A80= | Synonymous | 1/8 | - | 1 |
6-43738683-G-C | c.240G>C | p.A80= | Synonymous | 1/8 | - | 1 |
6-43738683-G-T | c.240G>T | p.A80= | Synonymous | 1/8 | - | 1 |
6-43738684-AGA-TGG | c.241_243delinsTGG | p.R81W | Missense | 1/8 | - | 1 |
6-43738684-AG-GC | c.241_242delinsGC | p.R81A | Missense | 1/8 | - | 1 |
6-43738684-A-T | c.241A>T | p.R81* | Nonsense | 1/8 | - | 1 |
6-43738684-A-C | c.241A>C | p.R81= | Synonymous | 1/8 | - | 1 |
6-43738686-A-G | c.243A>G | p.R81= | Synonymous | 1/8 | - | 1 |
6-43738687-AG-GC | c.244_245delinsGC | p.S82A | Missense | 1/8 | - | 1 |
6-43738688-G-T | c.245G>T | p.S82I | Missense | 1/8 | - | 1 |
6-43738690-G-A | c.247G>A | p.A83T | Missense | 1/8 | - | 1 |
6-43738690-G-C | c.247G>C | p.A83P | Missense | 1/8 | - | 1 |
6-43738690-GCT-AAG | c.247_249delinsAAG | p.A83K | Missense | 1/8 | - | 1 |
6-43738690-GC-TT | c.247_248delinsTT | p.A83F | Missense | 1/8 | - | 1 |
6-43738691-C-A | c.248C>A | p.A83D | Missense | 1/8 | - | 1 |
6-43738691-CT-AG | c.248_249inv | p.A83E | Missense | 1/8 | - | 2 |
6-43738692-T-A | c.249T>A | p.A83= | Synonymous | 1/8 | - | 1 |
6-43738692-T-C | c.249T>C | p.A83= | Synonymous | 1/8 | - | 1 |
6-43738692-T-G | c.249T>G | p.A83= | Synonymous | 1/8 | - | 1 |
6-43738693-AGC-GAG | c.250_252delinsGAG | p.S84E | Missense | 1/8 | - | 1 |
6-43738693-AG-GC | c.250_251delinsGC | p.S84A | Missense | 1/8 | - | 1 |
6-43738694-G-A | c.251G>A | p.S84N | Missense | 1/8 | - | 1 |
6-43738694-G-C | c.251G>C | p.S84T | Missense | 1/8 | - | 1 |
6-43738694-G-T | c.251G>T | p.S84I | Missense | 1/8 | - | 1 |
6-43738696-T-G | c.253T>G | p.S85A | Missense | 1/8 | - | 1 |
6-43738699-G-A | c.256G>A | p.G86S | Missense | 1/8 | - | 1 |
6-43738699-G-C | c.256G>C | p.G86R | Missense | 1/8 | - | 3 |
6-43738702-C-A | c.259C>A | p.R87= | Synonymous | 1/8 | - | 1 |
6-43738702-CG-TA | c.259_260delinsTA | p.R87* | Nonsense | 1/8 | - | 1 |
6-43738703-G-T | c.260G>T | p.R87L | Missense | 1/8 | - | 2 |
6-43738703-GGGA-G | c.265_267del | p.E89del | InFrameDeletion | 1/8 | - | 1 |
6-43738708-G-A | c.265G>A | p.E89K | Missense | 1/8 | - | 2 |
6-43738708-GAG-AAC | c.265_267delinsAAC | p.E89N | Missense | 1/8 | - | 1 |
6-43738708-GAG-TGT | c.265_267delinsTGT | p.E89C | Missense | 1/8 | - | 1 |
6-43738708-GA-TC | c.265_266inv | p.E89S | Missense | 1/8 | - | 1 |
6-43738708-G-C | c.265G>C | p.E89Q | Missense | 1/8 | - | 3 |
6-43738709-A-C | c.266A>C | p.E89A | Missense | 1/8 | - | 1 |
6-43738710-G-A | c.267G>A | p.E89= | Synonymous | 1/8 | - | 1 |
6-43738710-G-C | c.267G>C | p.E89D | Missense | 1/8 | - | 2 |
6-43738710-G-T | c.267G>T | p.E89D | Missense | 1/8 | - | 1 |
6-43738711-CCG-ATC | c.268_270delinsATC | p.P90I | Missense | 1/8 | - | 1 |
6-43738711-CC-GG | c.268_269inv | p.P90G | Missense | 1/8 | - | 2 |
6-43738711-C-G | c.268C>G | p.P90A | Missense | 1/8 | - | 1 |
6-43738711-C-T | c.268C>T | p.P90S | Missense | 1/8 | - | 2 |
6-43738712-CG-AT | c.269_270delinsAT | p.P90H | Missense | 1/8 | - | 2 |
6-43738713-G-A | c.270G>A | p.P90= | Synonymous | 1/8 | - | 2 |
6-43738713-G-C | c.270G>C | p.P90= | Synonymous | 1/8 | - | 3 |
6-43738713-G-T | c.270G>T | p.P90= | Synonymous | 1/8 | - | 2 |
6-43738714-CA-GG | c.271_272delinsGG | p.Q91G | Missense | 1/8 | - | 1 |
6-43738715-A-G | c.272A>G | p.Q91R | Missense | 1/8 | - | 1 |
6-43738718-C-A | c.275C>A | p.P92Q | Missense | 1/8 | - | 1 |
6-43738720-GAG-TTT | c.277_279delinsTTT | p.E93F | Missense | 1/8 | - | 2 |
6-43738720-GA-TC | c.277_278inv | p.E93S | Missense | 1/8 | - | 1 |
6-43738720-G-T | c.277G>T | p.E93* | Nonsense | 1/8 | - | 1 |
6-43738721-A-G | c.278A>G | p.E93G | Missense | 1/8 | - | 1 |
6-43738723-G-A | c.280G>A | p.E94K | Missense | 1/8 | - | 1 |
6-43738725-G-C | c.282G>C | p.E94D | Missense | 1/8 | - | 1 |
6-43738725-G-T | c.282G>T | p.E94D | Missense | 1/8 | - | 1 |
6-43738726-G-A | c.283G>A | p.G95R | Missense | 1/8 | - | 1 |
6-43738726-G-C | c.283G>C | p.G95R | Missense | 1/8 | - | 1 |
6-43738727-G-A | c.284G>A | p.G95E | Missense | 1/8 | - | 1 |
6-43738729-G-A | c.286G>A | p.E96K | Missense | 1/8 | - | 1 |
6-43738729-GA-AT | c.286_287delinsAT | p.E96M | Missense | 1/8 | - | 1 |
6-43738729-G-C | c.286G>C | p.E96Q | Missense | 1/8 | - | 1 |
6-43738730-A-C | c.287A>C | p.E96A | Missense | 1/8 | - | 1 |
6-43738730-A-G | c.287A>G | p.E96G | Missense | 1/8 | - | 2 |
6-43738732-GAG-TGT | c.289_291delinsTGT | p.E97C | Missense | 1/8 | - | 1 |
6-43738732-G-T | c.289G>T | p.E97* | Nonsense | 1/8 | - | 1 |
6-43738734-G-C | c.291G>C | p.E97D | Missense | 1/8 | - | 1 |
6-43738734-G-T | c.291G>T | p.E97D | Missense | 1/8 | - | 1 |
6-43738733-AG-A | c.292del | p.E98Kfs*52 | Frameshift | 1/8 | - | 1 |
6-43738735-G-A | c.292G>A | p.E98K | Missense | 1/8 | - | 1 |
6-43738735-GA-AG | c.292_293delinsAG | p.E98R | Missense | 1/8 | - | 1 |
6-43738735-GAA-TGT | c.292_294delinsTGT | p.E98C | Missense | 1/8 | - | 1 |
6-43738736-A-C | c.293A>C | p.E98A | Missense | 1/8 | - | 1 |
6-43738737-A-C | c.294A>C | p.E98D | Missense | 1/8 | - | 2 |
6-43738737-A-T | c.294A>T | p.E98D | Missense | 1/8 | - | 2 |
6-43738738-G-A | c.295G>A | p.E99K | Missense | 1/8 | - | 3 |
6-43738738-GAA-TTT | c.295_297delinsTTT | p.E99F | Missense | 1/8 | - | 1 |
6-43738739-A-C | c.296A>C | p.E99A | Missense | 1/8 | - | 2 |
6-43738740-A-C | c.297A>C | p.E99D | Missense | 1/8 | - | 1 |
6-43738740-A-G | c.297A>G | p.E99= | Synonymous | 1/8 | - | 2 |
6-43738740-A-T | c.297A>T | p.E99D | Missense | 1/8 | - | 1 |
6-43738741-AGAG-A | c.298_300del | p.E100del | InFrameDeletion | 1/8 | - | 1 |
6-43738741-GA-AG | c.298_299delinsAG | p.E100R | Missense | 1/8 | - | 1 |
6-43738741-GA-AT | c.298_299delinsAT | p.E100M | Missense | 1/8 | - | 1 |
6-43738742-A-G | c.299A>G | p.E100G | Missense | 1/8 | - | 1 |
6-43738743-G-A | c.300G>A | p.E100= | Synonymous | 1/8 | - | 1 |
6-43738743-G-C | c.300G>C | p.E100D | Missense | 1/8 | - | 1 |
6-43738743-G-T | c.300G>T | p.E100D | Missense | 1/8 | - | 1 |
6-43738744-AA-GC | c.301_302delinsGC | p.K101A | Missense | 1/8 | - | 1 |
6-43738744-A-G | c.301A>G | p.K101E | Missense | 1/8 | - | 3 |
6-43738744-A-T | c.301A>T | p.K101* | Nonsense | 1/8 | - | 1 |
6-43738745-AG-A | c.304del | p.E102Kfs*48 | Frameshift | 1/8 | - | 1 |
6-43738747-G-C | c.304G>C | p.E102Q | Missense | 1/8 | - | 2 |
6-43738748-A-G | c.305A>G | p.E102G | Missense | 1/8 | - | 1 |
6-43738750-G-A | c.307G>A | p.E103K | Missense | 1/8 | - | 1 |
6-43738750-G-C | c.307G>C | p.E103Q | Missense | 1/8 | - | 1 |
6-43738751-A-C | c.308A>C | p.E103A | Missense | 1/8 | - | 1 |
6-43738754-A-G | c.311A>G | p.E104G | Missense | 1/8 | - | 1 |
6-43738756-AG-GC | c.313_314delinsGC | p.R105A | Missense | 1/8 | - | 1 |
6-43738756-AGG-CAT | c.313_315delinsCAT | p.R105H | Missense | 1/8 | - | 1 |
6-43738756-A-T | c.313A>T | p.R105W | Missense | 1/8 | - | 1 |
6-43738756-A-AG | c.318dup | p.P107Afs*16 | Frameshift | 1/8 | - | 1 |
6-43738762-C-T | c.319C>T | p.P107S | Missense | 1/8 | - | 2 |
6-43738765-C-T | c.322C>T | p.Q108* | Nonsense | 1/8 | - | 2 |
6-43738766-A-T | c.323A>T | p.Q108L | Missense | 1/8 | - | 1 |
6-43738770-G-GC | c.328dup | p.R110Pfs*13 | Frameshift | 1/8 | - | 1 |
6-43738771-C-G | c.328C>G | p.R110G | Missense | 1/8 | - | 1 |
6-43738771-CGA-AAC | c.328_330delinsAAC | p.R110N | Missense | 1/8 | - | 1 |
6-43738771-CGA-AGC | c.328_330delinsAGC | p.R110S | Missense | 1/8 | - | 1 |
6-43738771-CG-GC | c.328_329delinsGC | p.R110A | Missense | 1/8 | - | 1 |
6-43738772-G-A | c.329G>A | p.R110Q | Missense | 1/8 | - | 4 |
6-43738772-G-C | c.329G>C | p.R110P | Missense | 1/8 | - | 1 |
6-43738772-G-T | c.329G>T | p.R110L | Missense | 1/8 | - | 1 |
6-43738774-C-A | c.331C>A | p.L111I | Missense | 1/8 | - | 1 |
6-43738774-C-T | c.331C>T | p.L111F | Missense | 1/8 | - | 1 |
6-43738774-CT-AC | c.331_332delinsAC | p.L111T | Missense | 1/8 | - | 1 |
6-43738774-CTC-ATG | c.331_333delinsATG | p.L111M | Missense | 1/8 | - | 1 |
6-43738775-T-C | c.332T>C | p.L111P | Missense | 1/8 | - | 1 |
6-43738773-ACTCGGCG-A | c.336_342del | p.A113Sfs*35 | Frameshift | 1/8 | - | 1 |
6-43738780-G-A | c.337G>A | p.A113T | Missense | 1/8 | - | 1 |
6-43738780-G-T | c.337G>T | p.A113S | Missense | 1/8 | - | 2 |
6-43738781-C-T | c.338C>T | p.A113V | Missense | 1/8 | - | 1 |
6-43738782-T-A | c.339T>A | p.A113= | Synonymous | 1/8 | - | 1 |
6-43738782-T-C | c.339T>C | p.A113= | Synonymous | 1/8 | - | 1 |
6-43738782-T-G | c.339T>G | p.A113= | Synonymous | 1/8 | - | 1 |
6-43738783-C-G | c.340C>G | p.R114G | Missense | 1/8 | - | 1 |
6-43738783-CG-GC | c.340_341delinsGC | p.R114A | Missense | 1/8 | - | 1 |
6-43738783-CGG-TGT | c.340_342delinsTGT | p.R114C | Missense | 1/8 | - | 1 |
6-43738783-C-T | c.340C>T | p.R114W | Missense | 1/8 | - | 1 |
6-43738784-G-A | c.341G>A | p.R114Q | Missense | 1/8 | - | 3 |
6-43738784-G-T | c.341G>T | p.R114L | Missense | 1/8 | - | 1 |
6-43738786-A-C | c.343A>C | p.K115Q | Missense | 1/8 | - | 1 |
6-43738786-A-G | c.343A>G | p.K115E | Missense | 1/8 | - | 2 |
6-43738786-A-T | c.343A>T | p.K115* | Nonsense | 1/8 | - | 1 |
6-43738788-G-A | c.345G>A | p.K115= | Synonymous | 1/8 | - | 1 |
6-43738789-C-T | c.346C>T | p.P116S | Missense | 1/8 | - | 1 |
6-43738790-C-A | c.347C>A | p.P116Q | Missense | 1/8 | - | 1 |
6-43738790-C-T | c.347C>T | p.P116L | Missense | 1/8 | - | 1 |
6-43738792-G-A | c.349G>A | p.G117S | Missense | 1/8 | - | 2 |
6-43738793-G-A | c.350G>A | p.G117D | Missense | 1/8 | - | 1 |
6-43738793-GC-AG | c.350_351delinsAG | p.G117E | Missense | 1/8 | - | 1 |
6-43738793-G-T | c.350G>T | p.G117V | Missense | 1/8 | - | 1 |
6-43738795-TC-AG | c.352_353delinsAG | p.S118R | Missense | 1/8 | - | 1 |
6-43738795-T-G | c.352T>G | p.S118A | Missense | 1/8 | - | 1 |
6-43738796-C-T | c.353C>T | p.S118L | Missense | 1/8 | - | 1 |
6-43738801-A-G | c.358A>G | p.T120A | Missense | 1/8 | - | 1 |
6-43738802-CG-AC | c.359_360delinsAC | p.T120N | Missense | 1/8 | - | 1 |
6-43738802-CG-TC | c.359_360delinsTC | p.T120I | Missense | 1/8 | - | 1 |
6-43738802-C-T | c.359C>T | p.T120M | Missense | 1/8 | - | 1 |
6-43738803-G-A | c.360G>A | p.T120= | Synonymous | 1/8 | - | 1 |
6-43738808-AGGC-A | c.371_373del | p.A124del | InFrameDeletion | 1/8 | - | 1 |
6-43738815-G-C | c.372G>C | p.A124= | Synonymous | 1/8 | - | 1 |
6-43738819-TG-GC | c.376_377delinsGC | p.C126A | Missense | 1/8 | - | 2 |
6-43738820-G-C | c.377G>C | p.C126S | Missense | 1/8 | - | 1 |
6-43738822-G-A | c.379G>A | p.A127T | Missense | 1/8 | - | 2 |
6-43738824-A-C | c.381A>C | p.A127= | Synonymous | 1/8 | - | 1 |
6-43738824-A-G | c.381A>G | p.A127= | Synonymous | 1/8 | - | 1 |
6-43738824-A-T | c.381A>T | p.A127= | Synonymous | 1/8 | - | 1 |
6-43738825-GAC-AAG | c.382_384delinsAAG | p.D128K | Missense | 1/8 | - | 1 |
6-43738826-A-C | c.383A>C | p.D128A | Missense | 1/8 | - | 1 |
6-43738826-A-G | c.383A>G | p.D128G | Missense | 1/8 | - | 1 |
6-43738828-A-C | c.385A>C | p.S129R | Missense | 1/8 | - | 4 |
6-43738828-AG-CC | c.385_386delinsCC | p.S129P | Missense | 1/8 | - | 1 |
6-43738828-AG-GA | c.385_386delinsGA | p.S129D | Missense | 1/8 | - | 4 |
6-43738830-T-A | c.387T>A | p.S129R | Missense | 1/8 | - | 3 |
6-43738830-T-G | c.387T>G | p.S129R | Missense | 1/8 | - | 4 |
6-43738831-G-A | c.388G>A | p.A130T | Missense | 1/8 | - | 1 |
6-43738832-C-T | c.389C>T | p.A130V | Missense | 1/8 | - | 1 |
6-43738833-T-C | c.390T>C | p.A130= | Synonymous | 1/8 | - | 1 |
6-43738834-CC-AA | c.391_392delinsAA | p.P131K | Missense | 1/8 | - | 1 |
6-43738834-C-T | c.391C>T | p.P131S | Missense | 1/8 | - | 1 |
6-43738835-C-T | c.392C>T | p.P131L | Missense | 1/8 | - | 1 |
6-43738838-C-T | c.395C>T | p.A132V | Missense | 1/8 | - | 1 |
6-43738836-AGCC-A | c.396_398del | p.A133del | InFrameDeletion | 1/8 | - | 1 |
6-43738840-G-C | c.397G>C | p.A133P | Missense | 1/8 | - | 1 |
6-43738842-G-A | c.399G>A | p.A133= | Synonymous | 1/8 | - | 1 |
6-43738842-G-C | c.399G>C | p.A133= | Synonymous | 1/8 | - | 1 |
6-43738842-G-T | c.399G>T | p.A133= | Synonymous | 1/8 | - | 1 |
6-43738843-C-T | c.400C>T | p.R134C | Missense | 1/8 | - | 2 |
6-43738846-G-A | c.403G>A | p.A135T | Missense | 1/8 | - | 1 |
6-43738846-G-T | c.403G>T | p.A135S | Missense | 1/8 | - | 1 |
6-43738847-C-T | c.404C>T | p.A135V | Missense | 1/8 | - | 4 |
6-43738848-T-A | c.405T>A | p.A135= | Synonymous | 1/8 | - | 2 |
6-43738848-T-C | c.405T>C | p.A135= | Synonymous | 1/8 | - | 3 |
6-43738848-T-G | c.405T>G | p.A135= | Synonymous | 1/8 | - | 3 |
6-43738849-C-G | c.406C>G | p.P136A | Missense | 1/8 | - | 1 |
6-43738850-C-A | c.407C>A | p.P136H | Missense | 1/8 | - | 1 |
6-43738850-C-T | c.407C>T | p.P136L | Missense | 1/8 | - | 2 |
6-43738852-C-G | c.409C>G | p.Q137E | Missense | 1/8 | - | 2 |
6-43738853-A-C | c.410A>C | p.Q137P | Missense | 1/8 | - | 2 |
6-43738857-C-T | c.414C>T | p.A138= | Synonymous | 1/8 | - | 1 |
6-43738855-GCCCTGGC-G | c.415_421del | p.L139Gfs*9 | Frameshift | 1/8 | - | 1 |
6-43738859-T-C | c.416T>C | p.L139P | Missense | 1/8 | - | 7 |
6-43738859-T-G | c.416T>G | p.L139R | Missense | 1/8 | - | 1 |
6-43738862-C-A | c.419C>A | p.A140D | Missense | 1/8 | - | 1 |
6-43738862-C-T | c.419C>T | p.A140V | Missense | 1/8 | - | 1 |
6-43738864-C-A | c.421C>A | p.R141= | Synonymous | 1/8 | - | 1 |
6-43738864-C-G | c.421C>G | p.R141G | Missense | 1/8 | - | 1 |
6-43738864-CGG-TGT | c.421_423delinsTGT | p.R141C | Missense | 1/8 | - | 1 |
6-43738864-C-T | c.421C>T | p.R141W | Missense | 1/8 | - | 2 |
6-43738865-G-C | c.422G>C | p.R141P | Missense | 1/8 | - | 1 |
6-43738865-G-GA | c.422_423insA | p.A142Gfs*106 | Frameshift | 1/8 | - | 1 |
6-43738865-GG-AT | c.422_423delinsAT | p.R141H | Missense | 1/8 | - | 1 |
6-43738866-G-C | c.423G>C | p.R141= | Synonymous | 1/8 | - | 1 |
6-43738867-GC-CG | c.424_425delinsCG | p.A142R | Missense | 1/8 | - | 1 |
6-43738868-C-T | c.425C>T | p.A142V | Missense | 1/8 | - | 1 |
6-43738869-C-A | c.426C>A | p.A142= | Synonymous | 1/8 | - | 1 |
6-43738869-C-G | c.426C>G | p.A142= | Synonymous | 1/8 | - | 1 |
6-43738869-C-T | c.426C>T | p.A142= | Synonymous | 1/8 | - | 2 |
6-43738870-CT-C | c.427del | p.S143Rfs*7 | Frameshift | 1/8 | - | 1 |
6-43738870-T-A | c.427T>A | p.S143T | Missense | 1/8 | - | 1 |
6-43738871-C-A | c.428C>A | p.S143* | Nonsense | 1/8 | - | 1 |
6-43738871-C-G | c.428C>G | p.S143W | Missense | 1/8 | - | 1 |
6-43738872-G-A | c.429G>A | p.S143= | Synonymous | 1/8 | - | 1 |
6-43738872-G-C | c.429G>C | p.S143= | Synonymous | 1/8 | - | 1 |
6-43738872-G-T | c.429G>T | p.S143= | Synonymous | 1/8 | - | 1 |
6-43738873-GG-CC | c.430_431inv | p.G144P | Missense | 1/8 | - | 1 |
6-43738874-G-A | c.431G>A | p.G144D | Missense | 1/8 | - | 1 |
6-43738874-G-T | c.431G>T | p.G144V | Missense | 1/8 | - | 2 |
6-43738876-C-G | c.433C>G | p.R145G | Missense | 1/8 | - | 1 |
6-43738876-CG-TA | c.433_434delinsTA | p.R145* | Nonsense | 1/8 | - | 6 |
6-43738876-C-T | c.433C>T | p.R145W | Missense | 1/8 | - | 3 |
6-43738877-G-A | c.434G>A | p.R145Q | Missense | 1/8 | - | 2 |
6-43738877-G-C | c.434G>C | p.R145P | Missense | 1/8 | - | 1 |
6-43738880-G-A | c.437G>A | p.G146E | Missense | 1/8 | - | 4 |
6-43738880-G-C | c.437G>C | p.G146A | Missense | 1/8 | - | 1 |
6-43738880-G-T | c.437G>T | p.G146V | Missense | 1/8 | - | 1 |
6-43738883-G-C | c.440G>C | p.G147A | Missense | 1/8 | - | 1 |
6-43738885-A-C | c.442A>C | p.R148= | Synonymous | 1/8 | - | 1 |
6-43738885-AGA-CAT | c.442_444delinsCAT | p.R148H | Missense | 1/8 | - | 1 |
6-43738885-AGA-TGG | c.442_444delinsTGG | p.R148W | Missense | 1/8 | - | 1 |
6-43738885-AG-GC | c.442_443delinsGC | p.R148A | Missense | 1/8 | - | 1 |
6-43738886-G-A | c.443G>A | p.R148K | Missense | 1/8 | - | 1 |
6-43738889-T-C | c.446T>C | p.V149A | Missense | 1/8 | - | 1 |
6-43738891-G-A | c.448G>A | p.A150T | Missense | 1/8 | - | 1 |
6-43738892-C-T | c.449C>T | p.A150V | Missense | 1/8 | - | 1 |
6-43738893-T-C | c.450T>C | p.A150= | Synonymous | 1/8 | - | 1 |
6-43738894-C-G | c.451C>G | p.R151G | Missense | 1/8 | - | 1 |
6-43738894-CGC-TGA | c.451_453delinsTGA | p.R151* | Nonsense | 1/8 | - | 1 |
6-43738894-C-T | c.451C>T | p.R151C | Missense | 1/8 | - | 1 |
6-43738895-GC-AA | c.452_453delinsAA | p.R151Q | Missense | 1/8 | - | 1 |
6-43738897-C-G | c.454C>G | p.R152G | Missense | 1/8 | - | 1 |
6-43738897-CGA-AGC | c.454_456delinsAGC | p.R152S | Missense | 1/8 | - | 1 |
6-43738897-C-T | c.454C>T | p.R152* | Nonsense | 1/8 | - | 1 |
6-43738898-G-A | c.455G>A | p.R152Q | Missense | 1/8 | - | 2 |
6-43738899-A-C | c.456A>C | p.R152= | Synonymous | 1/8 | - | 1 |
6-43738900-G-A | c.457G>A | p.G153S | Missense | 1/8 | - | 1 |
6-43738901-G-A | c.458G>A | p.G153D | Missense | 1/8 | - | 1 |
6-43738902-C-T | c.459C>T | p.G153= | Synonymous | 1/8 | - | 1 |
6-43738905-C-CT | c.462_463insT | p.E155* | Nonsense | 1/8 | - | 1 |
6-43738906-G-C | c.463G>C | p.E155Q | Missense | 1/8 | - | 1 |
6-43738907-A-C | c.464A>C | p.E155A | Missense | 1/8 | - | 1 |
6-43738905-CGAG-C | c.466_468del | p.E156del | InFrameDeletion | 1/8 | - | 2 |
6-43738909-G-A | c.466G>A | p.E156K | Missense | 1/8 | - | 1 |
6-43738910-A-C | c.467A>C | p.E156A | Missense | 1/8 | - | 2 |
6-43738910-A-G | c.467A>G | p.E156G | Missense | 1/8 | - | 1 |
6-43738911-G-C | c.468G>C | p.E156D | Missense | 1/8 | - | 2 |
6-43738911-G-T | c.468G>T | p.E156D | Missense | 1/8 | - | 1 |
6-43738912-A-C | c.469A>C | p.S157R | Missense | 1/8 | - | 1 |
6-43738912-A-G | c.469A>G | p.S157G | Missense | 1/8 | - | 1 |
6-43738913-G-A | c.470G>A | p.S157N | Missense | 1/8 | - | 1 |
6-43738914-C-T | c.471C>T | p.S157= | Synonymous | 1/8 | - | 1 |
6-43738916-G-A | c.473G>A | p.G158E | Missense | 1/8 | - | 1 |
6-43738916-G-C | c.473G>C | p.G158A | Missense | 1/8 | - | 1 |
6-43738919-C-A | c.476C>A | p.P159Q | Missense | 1/8 | - | 1 |
6-43738921-CC-AA | c.478_479delinsAA | p.P160N | Missense | 1/8 | - | 1 |
6-43738924-CA-AT | c.481_482delinsAT | p.H161I | Missense | 1/8 | - | 1 |
6-43738925-A-C | c.482A>C | p.H161P | Missense | 1/8 | - | 1 |
6-43738925-A-G | c.482A>G | p.H161R | Missense | 1/8 | - | 3 |
6-43738926-C-A | c.483C>A | p.H161Q | Missense | 1/8 | - | 1 |
6-43738927-A-C | c.484A>C | p.S162R | Missense | 1/8 | - | 1 |
6-43738927-A-G | c.484A>G | p.S162G | Missense | 1/8 | - | 2 |
6-43738927-AG-TA | c.484_485delinsTA | p.S162Y | Missense | 1/8 | - | 1 |
6-43738926-CAGCCCG-C | c.488_493del | p.P163_S164del | InFrameDeletion | 1/8 | - | 1 |
6-43738931-C-G | c.488C>G | p.P163R | Missense | 1/8 | - | 2 |
6-43738931-C-T | c.488C>T | p.P163L | Missense | 1/8 | - | 1 |
6-43738932-G-T | c.489G>T | p.P163= | Synonymous | 1/8 | - | 1 |
6-43738935-C-T | c.492C>T | p.S164= | Synonymous | 1/8 | - | 1 |
6-43738936-CG-GC | c.493_494delinsGC | p.R165A | Missense | 1/8 | - | 1 |
6-43738937-G-A | c.494G>A | p.R165Q | Missense | 1/8 | - | 1 |
6-43738937-G-C | c.494G>C | p.R165P | Missense | 1/8 | - | 1 |
6-43738939-AGA-TGG | c.496_498delinsTGG | p.R166W | Missense | 1/8 | - | 3 |
6-43738939-AG-CA | c.496_497delinsCA | p.R166Q | Missense | 1/8 | - | 1 |
6-43738940-G-C | c.497G>C | p.R166T | Missense | 1/8 | - | 2 |
6-43738941-A-T | c.498A>T | p.R166S | Missense | 1/8 | - | 1 |
6-43738942-G-A | c.499G>A | p.G167R | Missense | 1/8 | - | 4 |
6-43738942-G-C | c.499G>C | p.G167R | Missense | 1/8 | - | 3 |
6-43738942-GGG-AGC | c.499_501delinsAGC | p.G167S | Missense | 1/8 | - | 1 |
6-43738942-GGG-TGT | c.499_501delinsTGT | p.G167C | Missense | 1/8 | - | 1 |
6-43738943-G-A | c.500G>A | p.G167E | Missense | 1/8 | - | 1 |
6-43738943-GG-AC | c.500_501delinsAC | p.G167D | Missense | 1/8 | - | 1 |
6-43738944-G-A | c.501G>A | p.G167= | Synonymous | 1/8 | - | 1 |
6-43738944-G-T | c.501G>T | p.G167= | Synonymous | 1/8 | - | 1 |
6-43738945-A-G | c.502A>G | p.S168G | Missense | 1/8 | - | 1 |
6-43738945-AGC-TGA | c.502_504delinsTGA | p.S168* | Nonsense | 1/8 | - | 1 |
6-43738945-AG-GC | c.502_503delinsGC | p.S168A | Missense | 1/8 | - | 1 |
6-43738949-C-T | c.506C>T | p.A169V | Missense | 1/8 | - | 2 |
6-43738951-A-T | c.508A>T | p.S170C | Missense | 1/8 | - | 2 |
6-43738952-G-A | c.509G>A | p.S170N | Missense | 1/8 | - | 1 |
6-43738953-C-T | c.510C>T | p.S170= | Synonymous | 1/8 | - | 1 |
6-43738954-C-A | c.511C>A | p.R171S | Missense | 1/8 | - | 1 |
6-43738955-G-A | c.512G>A | p.R171H | Missense | 1/8 | - | 1 |
6-43738955-G-C | c.512G>C | p.R171P | Missense | 1/8 | - | 1 |
6-43738957-G-A | c.514G>A | p.A172T | Missense | 1/8 | - | 1 |
6-43738957-GC-CG | c.514_515delinsCG | p.A172R | Missense | 1/8 | - | 1 |
6-43738958-C-T | c.515C>T | p.A172V | Missense | 1/8 | - | 1 |
6-43738961-G-C | c.518G>C | p.G173A | Missense | 1/8 | - | 1 |
6-43738963-C-T | c.520C>T | p.P174S | Missense | 1/8 | - | 2 |
6-43738966-G-T | c.523G>T | p.G175C | Missense | 1/8 | - | 1 |
6-43738968-GT-G | c.525del | p.R176Gfs*6 | Frameshift | 1/8 | - | 1 |
6-43738969-C-A | c.526C>A | p.R176= | Synonymous | 1/8 | - | 1 |
6-43738969-C-G | c.526C>G | p.R176G | Missense | 1/8 | - | 1 |
6-43738969-C-T | c.526C>T | p.R176W | Missense | 1/8 | - | 4 |
6-43738971-G-A | c.528G>A | p.R176= | Synonymous | 1/8 | - | 1 |
6-43738971-G-C | c.528G>C | p.R176= | Synonymous | 1/8 | - | 1 |
6-43738971-G-T | c.528G>T | p.R176= | Synonymous | 1/8 | - | 1 |
6-43738970-G-A | c.527G>A | p.R176Q | Missense | 1/8 | - | 2 |
6-43738970-G-C | c.527G>C | p.R176P | Missense | 1/8 | - | 1 |
6-43738970-GG-AT | c.527_528delinsAT | p.R176H | Missense | 1/8 | - | 1 |
6-43738970-G-T | c.527G>T | p.R176L | Missense | 1/8 | - | 1 |
6-43738975-T-G | c.532T>G | p.S178A | Missense | 1/8 | - | 6 |
6-43738977-C-A | c.534C>A | p.S178= | Synonymous | 1/8 | - | 5 |
6-43738977-C-G | c.534C>G | p.S178= | Synonymous | 1/8 | - | 89 |
6-43738977-C-T | c.534C>T | p.S178= | Synonymous | 1/8 | - | 89 |
6-43738978-G-A | c.535G>A | p.E179K | Missense | 1/8 | - | 2 |
6-43738981-A-G | c.538A>G | p.T180A | Missense | 1/8 | - | 2 |
6-43738986-G-A | c.543G>A | p.M181I | Missense | 1/8 | - | 1 |
6-43738988-A-C | c.545A>C | p.N182T | Missense | 1/8 | - | 1 |
6-43738988-A-G | c.545A>G | p.N182S | Missense | 1/8 | - | 2 |
6-43738993-C-T | c.550C>T | p.L184= | Synonymous | 1/8 | - | 1 |
6-43738996-CTG-AAC | c.553_555delinsAAC | p.L185N | Missense | 1/8 | - | 1 |
6-43738998-G-C | c.555G>C | p.L185= | Synonymous | 1/8 | - | 1 |
6-43738999-TC-GA | c.556_557inv | p.S186D | Missense | 1/8 | - | 1 |
6-43738999-T-G | c.556T>G | p.S186A | Missense | 1/8 | - | 3 |
6-43739000-C-A | c.557C>A | p.S186Y | Missense | 1/8 | - | 1 |
6-43739000-C-T | c.557C>T | p.S186F | Missense | 1/8 | - | 1 |
6-43739003-G-T | c.560G>T | p.W187L | Missense | 1/8 | - | 1 |
6-43739008-C-T | c.565C>T | p.H189Y | Missense | 1/8 | - | 2 |
6-43739013-G-T | c.570G>T | p.W190C | Missense | 1/8 | - | 1 |
6-43739014-AG-TT | c.571_572delinsTT | p.S191F | Missense | 1/8 | - | 1 |
6-43739015-G-A | c.572G>A | p.S191N | Missense | 1/8 | - | 1 |
6-43739015-G-C | c.572G>C | p.S191T | Missense | 1/8 | - | 2 |
6-43739016-C-T | c.573C>T | p.S191= | Synonymous | 1/8 | - | 1 |
6-43739017-CT-AG | c.574_575inv | p.L192S | Missense | 1/8 | - | 1 |
6-43739020-G-A | c.577G>A | p.A193T | Missense | 1/8 | - | 1 |
6-43739021-C-T | c.578C>T | p.A193V | Missense | 1/8 | - | 1 |
6-43739023-TT-AG | c.580_581delinsAG | p.L194R | Missense | 1/8 | - | 1 |
6-43739032-T-C | c.589T>C | p.Y197H | Missense | 1/8 | - | 1 |
6-43739033-A-G | c.590A>G | p.Y197C | Missense | 1/8 | - | 2 |
6-43739033-A-T | c.590A>T | p.Y197F | Missense | 1/8 | - | 1 |
6-43739035-CT-GA | c.592_593delinsGA | p.L198D | Missense | 1/8 | - | 1 |
6-43739037-C-A | c.594C>A | p.L198= | Synonymous | 1/8 | - | 1 |
6-43739037-C-G | c.594C>G | p.L198= | Synonymous | 1/8 | - | 1 |
6-43739037-C-T | c.594C>T | p.L198= | Synonymous | 1/8 | - | 1 |
6-43739038-CA-GC | c.595_596delinsGC | p.H199A | Missense | 1/8 | - | 3 |
6-43739041-C-A | c.598C>A | p.H200N | Missense | 1/8 | - | 1 |
6-43739044-G-A | c.601G>A | p.A201T | Missense | 1/8 | - | 1 |
6-43739044-G-C | c.601G>C | p.A201P | Missense | 1/8 | - | 1 |
6-43739048-A-G | c.605A>G | p.K202R | Missense | 1/8 | - | 1 |
6-43739048-AG-GC | c.605_606delinsGC | p.K202S | Missense | 1/8 | - | 1 |
6-43739050-G-C | c.606+1G>C | - | IntronicSNV | - | 1/7 | 1 |
6-43739052-A-T | c.606+3A>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739063-C-T | c.606+14C>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739138-C-T | c.606+89C>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739280-G-A | c.606+231G>A | - | IntronicSNV | - | 1/7 | 1 |
6-43739280-G-C | c.606+231G>C | - | IntronicSNV | - | 1/7 | 1 |
6-43739327-C-T | c.606+278C>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739446-T-C | c.606+397T>C | - | IntronicSNV | - | 1/7 | 1 |
6-43739474-G-A | c.606+425G>A | - | IntronicSNV | - | 1/7 | 1 |
6-43739474-G-C | c.606+425G>C | - | IntronicSNV | - | 1/7 | 1 |
6-43739475-C-G | c.606+426C>G | - | IntronicSNV | - | 1/7 | 1 |
6-43739489-G-T | c.606+440G>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739641-C-A | c.606+592C>A | - | IntronicSNV | - | 1/7 | 1 |
6-43739651-C-T | c.606+602C>T | - | IntronicSNV | - | 1/7 | 1 |
6-43739800-TC-T | c.606+757del | - | IntronicDeletion | - | 1/7 | 1 |
6-43739989-C-T | c.606+940C>T | - | IntronicSNV | - | 1/7 | 2 |
6-43740094-T-C | c.606+1045T>C | - | IntronicSNV | - | 1/7 | 2 |
6-43740451-C-G | c.606+1402C>G | - | IntronicSNV | - | 1/7 | 1 |
6-43740451-C-T | c.606+1402C>T | - | IntronicSNV | - | 1/7 | 1 |
6-43740678-T-A | c.607-1400T>A | - | IntronicSNV | - | 1/7 | 31 |
6-43740678-T-C | c.607-1400T>C | - | IntronicSNV | - | 1/7 | 31 |
6-43740840-C-T | c.607-1238C>T | - | IntronicSNV | - | 1/7 | 4 |
6-43741451-G-T | c.607-627G>T | - | IntronicSNV | - | 1/7 | 2 |
6-43741572-G-A | c.607-506G>A | - | IntronicSNV | - | 1/7 | 1 |
6-43741957-A-T | c.607-121A>T | - | IntronicSNV | - | 1/7 | 1 |
6-43741959-T-C | c.607-119T>C | - | IntronicSNV | - | 1/7 | 1 |
6-43742036-G-A | c.607-42G>A | - | IntronicSNV | - | 1/7 | 1 |
6-43742076-A-G | c.607-2A>G | - | IntronicSNV | - | 1/7 | 1 |
6-43742078-T-C | c.607T>C | p.W203R | Missense | 2/8 | - | 1 |
6-43742079-GG-TT | c.608_609delinsTT | p.W203F | Missense | 2/8 | - | 1 |
6-43742082-C-G | c.611C>G | p.S204C | Missense | 2/8 | - | 1 |
6-43742085-A-T | c.614A>T | p.Q205L | Missense | 2/8 | - | 4 |
6-43742087-GCT-AAG | c.616_618delinsAAG | p.A206K | Missense | 2/8 | - | 6 |
6-43742088-C-T | c.617C>T | p.A206V | Missense | 2/8 | - | 2 |
6-43742089-T-A | c.618T>A | p.A206= | Synonymous | 2/8 | - | 2 |
6-43742089-T-C | c.618T>C | p.A206= | Synonymous | 2/8 | - | 2 |
6-43742089-T-G | c.618T>G | p.A206= | Synonymous | 2/8 | - | 2 |
6-43742091-C-A | c.620C>A | p.A207E | Missense | 2/8 | - | 1 |
6-43742091-C-T | c.620C>T | p.A207V | Missense | 2/8 | - | 1 |
6-43742097-T-C | c.626T>C | p.M209T | Missense | 2/8 | - | 1 |
6-43742099-G-A | c.628G>A | p.A210T | Missense | 2/8 | - | 1 |
6-43742099-G-C | c.628G>C | p.A210P | Missense | 2/8 | - | 1 |
6-43742101-A-G | c.630A>G | p.A210= | Synonymous | 2/8 | - | 2 |
6-43742102-G-A | c.631G>A | p.E211K | Missense | 2/8 | - | 1 |
6-43742103-A-G | c.632A>G | p.E211G | Missense | 2/8 | - | 2 |
6-43742106-GA-AC | c.635_636delinsAC | p.G212D | Missense | 2/8 | - | 1 |
6-43742106-G-C | c.635G>C | p.G212A | Missense | 2/8 | - | 1 |
6-43742107-A-G | c.636A>G | p.G212= | Synonymous | 2/8 | - | 1 |
6-43742109-G-A | c.638G>A | p.G213E | Missense | 2/8 | - | 1 |
6-43742109-G-C | c.638G>C | p.G213A | Missense | 2/8 | - | 1 |
6-43742111-G-T | c.640G>T | p.G214W | Missense | 2/8 | - | 1 |
6-43742112-G-C | c.641G>C | p.G214A | Missense | 2/8 | - | 1 |
6-43742114-C-T | c.643C>T | p.Q215* | Nonsense | 2/8 | - | 2 |
6-43742117-A-T | c.646A>T | p.N216Y | Missense | 2/8 | - | 1 |
6-43742121-A-T | c.650A>T | p.H217L | Missense | 2/8 | - | 1 |
6-43742123-C-T | c.652C>T | p.H218Y | Missense | 2/8 | - | 2 |
6-43742126-G-A | c.655G>A | p.E219K | Missense | 2/8 | - | 3 |
6-43742137-C-T | c.658+8C>T | - | IntronicSNV | - | 2/7 | 1 |
6-43742166-C-A | c.658+37C>A | - | IntronicSNV | - | 2/7 | 1 |
6-43742315-G-T | c.658+186G>T | - | IntronicSNV | - | 2/7 | 1 |
6-43742419-G-C | c.658+290G>C | - | IntronicSNV | - | 2/7 | 3 |
6-43742419-G-T | c.658+290G>T | - | IntronicSNV | - | 2/7 | 3 |
6-43742527-G-A | c.658+398G>A | - | IntronicSNV | - | 2/7 | 40 |
6-43742579-T-C | c.658+450T>C | - | IntronicSNV | - | 2/7 | 50 |
6-43742579-T-G | c.658+450T>G | - | IntronicSNV | - | 2/7 | 50 |
6-43742626-T-C | c.658+497T>C | - | IntronicSNV | - | 2/7 | 38 |
6-43743303-A-G | c.658+1174A>G | - | IntronicSNV | - | 2/7 | 1 |
6-43743507-C-T | c.658+1378C>T | - | IntronicSNV | - | 2/7 | 16 |
6-43744247-T-C | c.659-959T>C | - | IntronicSNV | - | 2/7 | 1 |
6-43744621-C-T | c.659-585C>T | - | IntronicSNV | - | 2/7 | 8 |
6-43745095-C-A | c.659-111C>A | - | IntronicSNV | - | 2/7 | 61 |
6-43745107-G-A | c.659-99G>A | - | IntronicSNV | - | 2/7 | 25 |
6-43745206-T-G | c.659T>G | p.V220G | Missense | 3/8 | - | 1 |
6-43745212-A-G | c.665A>G | p.K222R | Missense | 3/8 | - | 1 |
6-43745213-G-A | c.666G>A | p.K222= | Synonymous | 3/8 | - | 1 |
6-43745214-TT-CG | c.667_668delinsCG | p.F223R | Missense | 3/8 | - | 1 |
6-43745217-A-G | c.670A>G | p.M224V | Missense | 3/8 | - | 1 |
6-43745220-GA-TT | c.673_674delinsTT | p.D225F | Missense | 3/8 | - | 1 |
6-43745221-A-C | c.674A>C | p.D225A | Missense | 3/8 | - | 1 |
6-43745223-G-A | c.676G>A | p.V226I | Missense | 3/8 | - | 1 |
6-43745229-C-A | c.682C>A | p.Q228K | Missense | 3/8 | - | 1 |
6-43745229-C-T | c.682C>T | p.Q228* | Nonsense | 3/8 | - | 2 |
6-43745232-C-T | c.685C>T | p.R229C | Missense | 3/8 | - | 2 |
6-43745233-G-A | c.686G>A | p.R229H | Missense | 3/8 | - | 1 |
6-43745233-G-T | c.686G>T | p.R229L | Missense | 3/8 | - | 1 |
6-43745236-G-A | c.689G>A | p.S230N | Missense | 3/8 | - | 1 |
6-43745237-C-T | c.690C>T | p.S230= | Synonymous | 3/8 | - | 1 |
6-43745239-A-G | c.692A>G | p.Y231C | Missense | 3/8 | - | 1 |
6-43745241-TG-CC | c.694_695delinsCC | p.C232P | Missense | 3/8 | - | 1 |
6-43745243-C-T | c.696C>T | p.C232= | Synonymous | 3/8 | - | 1 |
6-43745245-A-G | c.698A>G | p.H233R | Missense | 3/8 | - | 1 |
6-43745245-A-T | c.698A>T | p.H233L | Missense | 3/8 | - | 1 |
6-43745247-C-T | c.700C>T | p.P234S | Missense | 3/8 | - | 3 |
6-43745248-C-T | c.701C>T | p.P234L | Missense | 3/8 | - | 2 |
6-43745250-A-G | c.703A>G | p.I235V | Missense | 3/8 | - | 3 |
6-43745250-AT-GC | c.703_704delinsGC | p.I235A | Missense | 3/8 | - | 1 |
6-43745252-C-A | c.705C>A | p.I235= | Synonymous | 3/8 | - | 1 |
6-43745252-C-T | c.705C>T | p.I235= | Synonymous | 3/8 | - | 2 |
6-43745254-A-T | c.707A>T | p.E236V | Missense | 3/8 | - | 1 |
6-43745255-G-A | c.708G>A | p.E236= | Synonymous | 3/8 | - | 1 |
6-43745256-A-G | c.709A>G | p.T237A | Missense | 3/8 | - | 1 |
6-43745257-CC-GG | c.710_711inv | p.T237R | Missense | 3/8 | - | 1 |
6-43745261-G-T | c.714G>T | p.L238= | Synonymous | 3/8 | - | 1 |
6-43745263-T-G | c.716T>G | p.V239G | Missense | 3/8 | - | 1 |
6-43745265-G-A | c.718G>A | p.D240N | Missense | 3/8 | - | 1 |
6-43745267-C-T | c.720C>T | p.D240= | Synonymous | 3/8 | - | 1 |
6-43745270-C-G | c.723C>G | p.I241M | Missense | 3/8 | - | 1 |
6-43745274-C-T | c.727C>T | p.Q243* | Nonsense | 3/8 | - | 1 |
6-43745277-G-T | c.730G>T | p.E244* | Nonsense | 3/8 | - | 1 |
6-43745278-A-G | c.731A>G | p.E244G | Missense | 3/8 | - | 1 |
6-43745279-G-A | c.732G>A | p.E244= | Synonymous | 3/8 | - | 1 |
6-43745283-C-A | c.736C>A | p.P246T | Missense | 3/8 | - | 1 |
6-43745283-C-G | c.736C>G | p.P246A | Missense | 3/8 | - | 1 |
6-43745283-C-T | c.736C>T | p.P246S | Missense | 3/8 | - | 1 |
6-43745284-C-T | c.737C>T | p.P246L | Missense | 3/8 | - | 1 |
6-43745288-T-G | c.741T>G | p.D247E | Missense | 3/8 | - | 1 |
6-43745289-G-A | c.742G>A | p.E248K | Missense | 3/8 | - | 1 |
6-43745291-G-C | c.744G>C | p.E248D | Missense | 3/8 | - | 1 |
6-43745292-A-G | c.745A>G | p.I249V | Missense | 3/8 | - | 1 |
6-43745294-C-A | c.747C>A | p.I249= | Synonymous | 3/8 | - | 1 |
6-43745294-C-T | c.747C>T | p.I249= | Synonymous | 3/8 | - | 1 |
6-43745295-G-A | c.748G>A | p.E250K | Missense | 3/8 | - | 1 |
6-43745295-G-T | c.748G>T | p.E250* | Nonsense | 3/8 | - | 1 |
6-43745296-A-G | c.749A>G | p.E250G | Missense | 3/8 | - | 1 |
6-43745310-C-A | c.763C>A | p.P255T | Missense | 3/8 | - | 1 |
6-43745310-C-T | c.763C>T | p.P255S | Missense | 3/8 | - | 1 |
6-43745313-TC-CT | c.766_767delinsCT | p.S256L | Missense | 3/8 | - | 1 |
6-43745313-TC-GA | c.766_767inv | p.S256D | Missense | 3/8 | - | 1 |
6-43745313-T-G | c.766T>G | p.S256A | Missense | 3/8 | - | 2 |
6-43745314-C-T | c.767C>T | p.S256F | Missense | 3/8 | - | 1 |
6-43745315-C-A | c.768C>A | p.S256= | Synonymous | 3/8 | - | 1 |
6-43745315-C-G | c.768C>G | p.S256= | Synonymous | 3/8 | - | 1 |
6-43745315-C-T | c.768C>T | p.S256= | Synonymous | 3/8 | - | 1 |
6-43745318-T-C | c.771T>C | p.C257= | Synonymous | 3/8 | - | 1 |
6-43745320-T-C | c.773T>C | p.V258A | Missense | 3/8 | - | 1 |
6-43745322-C-T | c.775C>T | p.P259S | Missense | 3/8 | - | 1 |
6-43745323-C-G | c.776C>G | p.P259R | Missense | 3/8 | - | 1 |
6-43745326-T-A | c.779T>A | p.L260Q | Missense | 3/8 | - | 1 |
6-43745331-CGA-AGC | c.784_786delinsAGC | p.R262S | Missense | 3/8 | - | 1 |
6-43745331-CGA-TGG | c.784_786delinsTGG | p.R262W | Missense | 3/8 | - | 2 |
6-43745331-C-T | c.784C>T | p.R262* | Nonsense | 3/8 | - | 4 |
6-43745332-G-A | c.785G>A | p.R262Q | Missense | 3/8 | - | 1 |
6-43745332-G-T | c.785G>T | p.R262L | Missense | 3/8 | - | 1 |
6-43745334-T-A | c.787T>A | p.C263S | Missense | 3/8 | - | 1 |
6-43745335-G-C | c.788G>C | p.C263S | Missense | 3/8 | - | 1 |
6-43745336-C-T | c.789C>T | p.C263= | Synonymous | 3/8 | - | 3 |
6-43745337-G-A | c.790G>A | p.G264R | Missense | 3/8 | - | 1 |
6-43745337-GGG-TGT | c.790_792delinsTGT | p.G264C | Missense | 3/8 | - | 1 |
6-43745337-G-T | c.790G>T | p.G264W | Missense | 3/8 | - | 1 |
6-43745339-G-A | c.792G>A | p.G264= | Synonymous | 3/8 | - | 1 |
6-43745340-G-A | c.793G>A | p.G265S | Missense | 3/8 | - | 1 |
6-43745341-G-A | c.794G>A | p.G265D | Missense | 3/8 | - | 3 |
6-43745345-C-T | c.798C>T | p.C266= | Synonymous | 3/8 | - | 2 |
6-43745346-T-A | c.799T>A | p.C267S | Missense | 3/8 | - | 1 |
6-43745346-T-G | c.799T>G | p.C267G | Missense | 3/8 | - | 1 |
6-43745346-TG-GC | c.799_800delinsGC | p.C267A | Missense | 3/8 | - | 1 |
6-43745347-G-C | c.800G>C | p.C267S | Missense | 3/8 | - | 1 |
6-43745348-C-G | c.801C>G | p.C267W | Missense | 3/8 | - | 1 |
6-43745351-T-C | c.804T>C | p.N268= | Synonymous | 3/8 | - | 1 |
6-43745355-G-A | c.808G>A | p.E270K | Missense | 3/8 | - | 1 |
6-43745356-A-C | c.809A>C | p.E270A | Missense | 3/8 | - | 1 |
6-43745361-CTG-ATC | c.814_816delinsATC | p.L272I | Missense | 3/8 | - | 1 |
6-43745362-T-C | c.815T>C | p.L272P | Missense | 3/8 | - | 1 |
6-43745364-G-A | c.817G>A | p.E273K | Missense | 3/8 | - | 1 |
6-43745365-A-G | c.818A>G | p.E273G | Missense | 3/8 | - | 2 |
6-43745367-T-A | c.820T>A | p.C274S | Missense | 3/8 | - | 1 |
6-43745368-G-C | c.821G>C | p.C274S | Missense | 3/8 | - | 1 |
6-43745370-G-A | c.823G>A | p.V275M | Missense | 3/8 | - | 2 |
6-43745370-G-C | c.823G>C | p.V275L | Missense | 3/8 | - | 1 |
6-43745370-G-T | c.823G>T | p.V275L | Missense | 3/8 | - | 1 |
6-43745370-GTG-ATC | c.823_825delinsATC | p.V275I | Missense | 3/8 | - | 1 |
6-43745372-G-A | c.825G>A | p.V275= | Synonymous | 3/8 | - | 1 |
6-43745373-C-G | c.826C>G | p.P276A | Missense | 3/8 | - | 1 |
6-43745373-C-T | c.826C>T | p.P276S | Missense | 3/8 | - | 2 |
6-43745376-CA-C | c.829del | p.T277Lfs*21 | Frameshift | 3/8 | - | 1 |
6-43745382-G-C | c.835G>C | p.E279Q | Missense | 3/8 | - | 1 |
6-43745383-A-T | c.836A>T | p.E279V | Missense | 3/8 | - | 1 |
6-43745389-A-C | c.842A>C | p.N281T | Missense | 3/8 | - | 2 |
6-43745390-C-G | c.843C>G | p.N281K | Missense | 3/8 | - | 1 |
6-43745395-C-T | c.848C>T | p.T283I | Missense | 3/8 | - | 1 |
6-43745397-A-C | c.850A>C | p.M284L | Missense | 3/8 | - | 1 |
6-43745397-A-G | c.850A>G | p.M284V | Missense | 3/8 | - | 1 |
6-43745404-T-C | c.855+2T>C | - | IntronicSNV | - | 3/7 | 1 |
6-43745404-T-G | c.855+2T>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745411-C-T | c.855+9C>T | - | IntronicSNV | - | 3/7 | 1 |
6-43745414-T-G | c.855+12T>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745421-T-G | c.855+19T>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745426-C-A | c.855+24C>A | - | IntronicSNV | - | 3/7 | 1 |
6-43745428-A-G | c.855+26A>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745428-AG-A | c.855+33del | - | IntronicDeletion | - | 3/7 | 1 |
6-43745436-A-T | c.855+34A>T | - | IntronicSNV | - | 3/7 | 1 |
6-43745437-T-G | c.855+35T>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745438-A-G | c.855+36A>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745442-A-G | c.855+40A>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745447-G-T | c.855+45G>T | - | IntronicSNV | - | 3/7 | 1 |
6-43745448-G-T | c.855+46G>T | - | IntronicSNV | - | 3/7 | 1 |
6-43745452-C-G | c.855+50C>G | - | IntronicSNV | - | 3/7 | 1 |
6-43745526-C-T | c.855+124C>T | - | IntronicSNV | - | 3/7 | 1 |
6-43745577-C-T | c.855+175C>T | - | IntronicSNV | - | 3/7 | 7 |
6-43746169-C-T | c.856-28C>T | - | IntronicSNV | - | 3/7 | 41 |
6-43746203-CG-GC | c.862_863delinsGC | p.R288A | Missense | 4/8 | - | 2 |
6-43746203-CGG-TGT | c.862_864delinsTGT | p.R288C | Missense | 4/8 | - | 1 |
6-43746203-C-T | c.862C>T | p.R288W | Missense | 4/8 | - | 2 |
6-43746204-G-A | c.863G>A | p.R288Q | Missense | 4/8 | - | 3 |
6-43746204-G-T | c.863G>T | p.R288L | Missense | 4/8 | - | 1 |
6-43746205-G-C | c.864G>C | p.R288= | Synonymous | 4/8 | - | 1 |
6-43746206-A-G | c.865A>G | p.I289V | Missense | 4/8 | - | 1 |
6-43746208-C-G | c.867C>G | p.I289M | Missense | 4/8 | - | 1 |
6-43746208-C-T | c.867C>T | p.I289= | Synonymous | 4/8 | - | 1 |
6-43746209-AA-GC | c.868_869delinsGC | p.K290A | Missense | 4/8 | - | 1 |
6-43746210-AA-GC | c.869_870delinsGC | p.K290S | Missense | 4/8 | - | 1 |
6-43746210-AA-TG | c.869_870delinsTG | p.K290M | Missense | 4/8 | - | 2 |
6-43746210-A-G | c.869A>G | p.K290R | Missense | 4/8 | - | 1 |
6-43746213-C-T | c.872C>T | p.P291L | Missense | 4/8 | - | 1 |
6-43746215-CA-AG | c.874_875delinsAG | p.H292S | Missense | 4/8 | - | 1 |
6-43746215-CA-GG | c.874_875delinsGG | p.H292G | Missense | 4/8 | - | 1 |
6-43746215-CA-GT | c.874_875delinsGT | p.H292V | Missense | 4/8 | - | 1 |
6-43746215-C-T | c.874C>T | p.H292Y | Missense | 4/8 | - | 3 |
6-43746216-A-G | c.875A>G | p.H292R | Missense | 4/8 | - | 1 |
6-43746221-G-A | c.880G>A | p.G294S | Missense | 4/8 | - | 1 |
6-43746221-G-T | c.880G>T | p.G294C | Missense | 4/8 | - | 1 |
6-43746222-G-C | c.881G>C | p.G294A | Missense | 4/8 | - | 1 |
6-43746224-CA-GC | c.883_884delinsGC | p.Q295A | Missense | 4/8 | - | 1 |
6-43746226-G-T | c.885G>T | p.Q295H | Missense | 4/8 | - | 1 |
6-43746227-C-A | c.886C>A | p.H296N | Missense | 4/8 | - | 1 |
6-43746230-A-G | c.889A>G | p.I297V | Missense | 4/8 | - | 1 |
6-43746233-G-A | c.892G>A | p.G298R | Missense | 4/8 | - | 1 |
6-43746234-G-A | c.893G>A | p.G298E | Missense | 4/8 | - | 3 |
6-43746234-G-C | c.893G>C | p.G298A | Missense | 4/8 | - | 2 |
6-43746236-G-A | c.895G>A | p.E299K | Missense | 4/8 | - | 2 |
6-43746237-A-C | c.896A>C | p.E299A | Missense | 4/8 | - | 1 |
6-43746239-A-G | c.898A>G | p.M300V | Missense | 4/8 | - | 3 |
6-43746239-AT-GC | c.898_899delinsGC | p.M300A | Missense | 4/8 | - | 1 |
6-43746239-ATG-TTT | c.898_900delinsTTT | p.M300F | Missense | 4/8 | - | 3 |
6-43746242-A-G | c.901A>G | p.S301G | Missense | 4/8 | - | 1 |
6-43746242-AG-GC | c.901_902delinsGC | p.S301A | Missense | 4/8 | - | 2 |
6-43746242-AG-TT | c.901_902delinsTT | p.S301F | Missense | 4/8 | - | 1 |
6-43746245-T-C | c.904T>C | p.F302L | Missense | 4/8 | - | 1 |
6-43746248-CTA-TTT | c.907_909delinsTTT | p.L303F | Missense | 4/8 | - | 1 |
6-43746249-T-G | c.908T>G | p.L303R | Missense | 4/8 | - | 1 |
6-43746252-A-G | c.911A>G | p.Q304R | Missense | 4/8 | - | 1 |
6-43746252-CA-C | c.911del | p.Q304Rfs*80 | Frameshift | 4/8 | - | 1 |
6-43746256-C-G | c.915C>G | p.H305Q | Missense | 4/8 | - | 1 |
6-43746258-A-G | c.917A>G | p.N306S | Missense | 4/8 | - | 1 |
6-43746260-A-G | c.919A>G | p.K307E | Missense | 4/8 | - | 2 |
6-43746261-A-G | c.920A>G | p.K307R | Missense | 4/8 | - | 2 |
6-43746263-T-C | c.922T>C | p.C308R | Missense | 4/8 | - | 1 |
6-43746264-G-T | c.923G>T | p.C308F | Missense | 4/8 | - | 1 |
6-43746266-GAA-TGT | c.925_927delinsTGT | p.E309C | Missense | 4/8 | - | 1 |
6-43746269-T-A | c.928T>A | p.C310S | Missense | 4/8 | - | 3 |
6-43746269-T-C | c.928T>C | p.C310R | Missense | 4/8 | - | 1 |
6-43746270-G-C | c.929G>C | p.C310S | Missense | 4/8 | - | 3 |
6-43746270-G-A | c.929G>A | p.C310Y | Missense | 4/8 | - | 1 |
6-43746270-G-T | c.929G>T | p.C310F | Missense | 4/8 | - | 1 |
6-43746272-A-G | c.931A>G | p.R311G | Missense | 4/8 | - | 1 |
6-43746274-G-C | c.932+1G>C | - | IntronicSNV | - | 4/7 | 1 |
6-43746352-CT-C | c.932+84del | - | IntronicDeletion | - | 4/7 | 1 |
6-43746410-C-T | c.932+137C>T | - | IntronicSNV | - | 4/7 | 4 |
6-43746628-C-G | c.935C>G | p.P312R | Missense | 5/8 | - | 1 |
6-43746628-C-T | c.935C>T | p.P312L | Missense | 5/8 | - | 1 |
6-43746629-A-G | c.936A>G | p.P312= | Synonymous | 5/8 | - | 1 |
6-43746631-A-G | c.938A>G | p.K313R | Missense | 5/8 | - | 2 |
6-43746633-A-G | c.940A>G | p.K314E | Missense | 5/8 | - | 1 |
6-43746634-A-G | c.941A>G | p.K314R | Missense | 5/8 | - | 1 |
6-43746646-G-A | c.953G>A | p.R318K | Missense | 5/8 | - | 1 |
6-43746647-A-C | c.954A>C | p.R318S | Missense | 5/8 | - | 1 |
6-43746647-A-T | c.954A>T | p.R318S | Missense | 5/8 | - | 1 |
6-43746648-C-G | c.955C>G | p.Q319E | Missense | 5/8 | - | 2 |
6-43746649-A-G | c.956A>G | p.Q319R | Missense | 5/8 | - | 1 |
6-43746649-A-T | c.956A>T | p.Q319L | Missense | 5/8 | - | 1 |
6-43746650-A-C | c.957A>C | p.Q319H | Missense | 5/8 | - | 1 |
6-43746650-A-T | c.957A>T | p.Q319H | Missense | 5/8 | - | 1 |
6-43746651-G-A | c.958G>A | p.E320K | Missense | 5/8 | - | 1 |
6-43746651-G-T | c.958G>T | p.E320* | Nonsense | 5/8 | - | 1 |
6-43746653-A-G | c.960A>G | p.E320= | Synonymous | 5/8 | - | 1 |
6-43746655-A-G | c.962A>G | p.K321R | Missense | 5/8 | - | 2 |
6-43746697-G-A | c.962+42G>A | - | IntronicSNV | - | 5/7 | 1 |
6-43746949-T-C | c.962+294T>C | - | IntronicSNV | - | 5/7 | 3 |
6-43747117-C-T | c.962+462C>T | - | IntronicSNV | - | 5/7 | 1 |
6-43747248-C-T | c.962+593C>T | - | IntronicSNV | - | 5/7 | 4 |
6-43747371-C-T | c.962+716C>T | - | IntronicSNV | - | 5/7 | 5 |
6-43747450-G-A | c.962+795G>A | - | IntronicSNV | - | 5/7 | 4 |
6-43747577-T-C | c.963-892T>C | - | IntronicSNV | - | 5/7 | 29 |
6-43747577-T-G | c.963-892T>G | - | IntronicSNV | - | 5/7 | 29 |
6-43747623-A-T | c.963-846A>T | - | IntronicSNV | - | 5/7 | 4 |
6-43747962-A-G | c.963-507A>G | - | IntronicSNV | - | 5/7 | 3 |
6-43747970-G-GGT | c.963-498_963-497insTG | - | IntronicInsertion | - | 5/7 | 1 |
6-43747970-G-GGTGCCTGATACACAGCCCAAGGT | c.963-498_963-497insTGCCTGATACACAGCCCAAGGTG | - | IntronicInsertion | - | 5/7 | 1 |
6-43748350-G-A | c.963-119G>A | - | IntronicSNV | - | 5/7 | 3 |
6-43748356-C-T | c.963-113C>T | - | IntronicSNV | - | 5/7 | 2 |
6-43748357-G-A | c.963-112G>A | - | IntronicSNV | - | 5/7 | 7 |
6-43748358-G-T | c.963-111G>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748388-C-A | c.963-81C>A | - | IntronicSNV | - | 5/7 | 1 |
6-43748390-A-C | c.963-79A>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748391-T-A | c.963-78T>A | - | IntronicSNV | - | 5/7 | 1 |
6-43748395-T-C | c.963-74T>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748396-G-T | c.963-73G>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748400-A-C | c.963-69A>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748403-T-C | c.963-66T>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748408-A-C | c.963-61A>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748410-T-C | c.963-59T>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748417-A-C | c.963-52A>C | - | IntronicSNV | - | 5/7 | 1 |
6-43748417-A-T | c.963-52A>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748419-TC-T | c.963-44del | - | IntronicDeletion | - | 5/7 | 1 |
6-43748426-A-C | c.963-43A>C | - | IntronicSNV | - | 5/7 | 3 |
6-43748426-A-G | c.963-43A>G | - | IntronicSNV | - | 5/7 | 2 |
6-43748429-G-A | c.963-40G>A | - | IntronicSNV | - | 5/7 | 2 |
6-43748429-G-C | c.963-40G>C | - | IntronicSNV | - | 5/7 | 3 |
6-43748435-G-A | c.963-34G>A | - | IntronicSNV | - | 5/7 | 1 |
6-43748435-G-C | c.963-34G>C | - | IntronicSNV | - | 5/7 | 2 |
6-43748435-G-T | c.963-34G>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748437-T-C | c.963-32T>C | - | IntronicSNV | - | 5/7 | 3 |
6-43748437-T-G | c.963-32T>G | - | IntronicSNV | - | 5/7 | 2 |
6-43748460-A-T | c.963-9A>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748465-C-T | c.963-4C>T | - | IntronicSNV | - | 5/7 | 1 |
6-43748470-AA-GC | c.964_965delinsGC | p.K322A | Missense | 6/8 | - | 6 |
6-43748470-A-C | c.964A>C | p.K322Q | Missense | 6/8 | - | 1 |
6-43748470-A-G | c.964A>G | p.K322E | Missense | 6/8 | - | 3 |
6-43748470-A-T | c.964A>T | p.K322* | Nonsense | 6/8 | - | 1 |
6-43748473-TCA-AAC | c.967_969delinsAAC | p.S323N | Missense | 6/8 | - | 2 |
6-43748475-A-C | c.969A>C | p.S323= | Synonymous | 6/8 | - | 1 |
6-43748475-A-G | c.969A>G | p.S323= | Synonymous | 6/8 | - | 1 |
6-43748475-A-T | c.969A>T | p.S323= | Synonymous | 6/8 | - | 1 |
6-43748476-G-A | c.970G>A | p.V324I | Missense | 6/8 | - | 1 |
6-43748475-AGTTCGAGGAAAG-A | c.971_982del | p.V324_K327del | InFrameDeletion | 6/8 | - | 1 |
6-43748477-T-C | c.971T>C | p.V324A | Missense | 6/8 | - | 1 |
6-43748479-C-G | c.973C>G | p.R325G | Missense | 6/8 | - | 1 |
6-43748479-CGA-TGT | c.973_975delinsTGT | p.R325C | Missense | 6/8 | - | 1 |
6-43748479-C-T | c.973C>T | p.R325* | Nonsense | 6/8 | - | 12 |
6-43748480-G-A | c.974G>A | p.R325Q | Missense | 6/8 | - | 2 |
6-43748480-G-C | c.974G>C | p.R325P | Missense | 6/8 | - | 1 |
6-43748485-A-G | c.979A>G | p.K327E | Missense | 6/8 | - | 2 |
6-43748486-A-G | c.980A>G | p.K327R | Missense | 6/8 | - | 1 |
6-43748488-G-A | c.982G>A | p.G328R | Missense | 6/8 | - | 1 |
6-43748488-G-C | c.982G>C | p.G328R | Missense | 6/8 | - | 1 |
6-43748490-A-G | c.984A>G | p.G328= | Synonymous | 6/8 | - | 1 |
6-43748491-A-G | c.985A>G | p.K329E | Missense | 6/8 | - | 1 |
6-43748492-A-G | c.986A>G | p.K329R | Missense | 6/8 | - | 1 |
6-43748494-GG-AC | c.988_989delinsAC | p.G330T | Missense | 6/8 | - | 1 |
6-43748495-G-T | c.989G>T | p.G330V | Missense | 6/8 | - | 1 |
6-43748496-G-A | c.990G>A | p.G330= | Synonymous | 6/8 | - | 1 |
6-43748496-G-C | c.990G>C | p.G330= | Synonymous | 6/8 | - | 1 |
6-43748496-G-T | c.990G>T | p.G330= | Synonymous | 6/8 | - | 1 |
6-43748497-C-A | c.991C>A | p.Q331K | Missense | 6/8 | - | 1 |
6-43748498-A-G | c.992A>G | p.Q331R | Missense | 6/8 | - | 1 |
6-43748502-A-G | c.996A>G | p.K332= | Synonymous | 6/8 | - | 1 |
6-43748503-C-T | c.997C>T | p.R333* | Nonsense | 6/8 | - | 2 |
6-43748504-G-A | c.998G>A | p.R333Q | Missense | 6/8 | - | 4 |
6-43748506-AA-GC | c.1000_1001delinsGC | p.K334A | Missense | 6/8 | - | 3 |
6-43748506-A-G | c.1000A>G | p.K334E | Missense | 6/8 | - | 1 |
6-43748509-CGC-AAG | c.1003_1005delinsAAG | p.R335K | Missense | 6/8 | - | 1 |
6-43748509-C-T | c.1003C>T | p.R335C | Missense | 6/8 | - | 5 |
6-43748510-G-A | c.1004G>A | p.R335H | Missense | 6/8 | - | 3 |
6-43748511-CA-C | c.1007del | p.K336Rfs*48 | Frameshift | 6/8 | - | 1 |
6-43748514-G-A | c.1008G>A | p.K336= | Synonymous | 6/8 | - | 1 |
6-43748516-A-G | c.1010A>G | p.K337R | Missense | 6/8 | - | 1 |
6-43748517-A-G | c.1011A>G | p.K337= | Synonymous | 6/8 | - | 1 |
6-43748519-C-A | c.1013C>A | p.S338Y | Missense | 6/8 | - | 1 |
6-43748519-C-T | c.1013C>T | p.S338F | Missense | 6/8 | - | 5 |
6-43748521-CGG-AGC | c.1015_1017delinsAGC | p.R339S | Missense | 6/8 | - | 1 |
6-43748521-CG-TA | c.1015_1016delinsTA | p.R339* | Nonsense | 6/8 | - | 1 |
6-43748521-C-T | c.1015C>T | p.R339W | Missense | 6/8 | - | 4 |
6-43748522-G-A | c.1016G>A | p.R339Q | Missense | 6/8 | - | 3 |
6-43748522-GG-AT | c.1016_1017delinsAT | p.R339H | Missense | 6/8 | - | 1 |
6-43748522-G-T | c.1016G>T | p.R339L | Missense | 6/8 | - | 1 |
6-43748524-TA-AC | c.1018_1019delinsAC | p.Y340T | Missense | 6/8 | - | 1 |
6-43748524-T-G | c.1018T>G | p.Y340D | Missense | 6/8 | - | 1 |
6-43748527-AA-GC | c.1021_1022delinsGC | p.K341A | Missense | 6/8 | - | 7 |
6-43748527-A-G | c.1021A>G | p.K341E | Missense | 6/8 | - | 2 |
6-43748530-TC-GG | c.1024_1025delinsGG | p.S342G | Missense | 6/8 | - | 1 |
6-43748530-T-G | c.1024T>G | p.S342A | Missense | 6/8 | - | 1 |
6-43748531-C-T | c.1025C>T | p.S342F | Missense | 6/8 | - | 3 |
6-43748537-G-A | c.1031G>A | p.S344N | Missense | 6/8 | - | 1 |
6-43748540-T-C | c.1034T>C | p.V345A | Missense | 6/8 | - | 2 |
6-43748545-G-A | c.1034+5G>A | - | IntronicSNV | - | 6/7 | 5 |
6-43748593-T-C | c.1034+53T>C | - | IntronicSNV | - | 6/7 | 3 |
6-43748600-T-C | c.1034+60T>C | - | IntronicSNV | - | 6/7 | 1 |
6-43748643-T-C | c.1034+103T>C | - | IntronicSNV | - | 6/7 | 8 |
6-43748643-T-G | c.1034+103T>G | - | IntronicSNV | - | 6/7 | 7 |
6-43748795-C-G | c.1034+255C>G | - | IntronicSNV | - | 6/7 | 5 |
6-43748795-C-T | c.1034+255C>T | - | IntronicSNV | - | 6/7 | 5 |
6-43749110-C-T | c.1034+570C>T | - | IntronicSNV | - | 6/7 | 32 |
6-43749163-T-C | c.1035-530T>C | - | IntronicSNV | - | 6/7 | 19 |
6-43749230-C-T | c.1035-463C>T | - | IntronicSNV | - | 6/7 | 1 |
6-43749513-C-T | c.1035-180C>T | - | IntronicSNV | - | 6/7 | 2 |
6-43749583-C-A | c.1035-110C>A | - | IntronicSNV | - | 6/7 | 1 |
6-43749617-G-A | c.1035-76G>A | - | IntronicSNV | - | 6/7 | 1 |
6-43749639-C-T | c.1035-54C>T | - | IntronicSNV | - | 6/7 | 1 |
6-43749695-C-A | c.1037C>A | p.P346H | Missense | 7/8 | - | 1 |
6-43749701-G-A | c.1043G>A | p.G348E | Missense | 7/8 | - | 1 |
6-43749702-G-A | c.1044G>A | p.G348= | Synonymous | 7/8 | - | 1 |
6-43749706-T-G | c.1048T>G | p.C350G | Missense | 7/8 | - | 1 |
6-43749706-TG-GC | c.1048_1049delinsGC | p.C350A | Missense | 7/8 | - | 1 |
6-43749707-G-T | c.1049G>T | p.C350F | Missense | 7/8 | - | 1 |
6-43749709-TCA-GAC | c.1051_1053delinsGAC | p.S351D | Missense | 7/8 | - | 1 |
6-43749709-T-G | c.1051T>G | p.S351A | Missense | 7/8 | - | 2 |
6-43749710-CA-GT | c.1052_1053delinsGT | p.S351C | Missense | 7/8 | - | 1 |
6-43749710-C-T | c.1052C>T | p.S351L | Missense | 7/8 | - | 1 |
6-43749712-G-T | c.1054G>T | p.E352* | Nonsense | 7/8 | - | 1 |
6-43749715-CGG-AGC | c.1057_1059delinsAGC | p.R353S | Missense | 7/8 | - | 1 |
6-43749715-CGG-TGT | c.1057_1059delinsTGT | p.R353C | Missense | 7/8 | - | 1 |
6-43749715-C-T | c.1057C>T | p.R353W | Missense | 7/8 | - | 1 |
6-43749716-G-A | c.1058G>A | p.R353Q | Missense | 7/8 | - | 1 |
6-43749716-G-C | c.1058G>C | p.R353P | Missense | 7/8 | - | 2 |
6-43749724-C-T | c.1066C>T | p.H356Y | Missense | 7/8 | - | 1 |
6-43749726-T-C | c.1068T>C | p.H356= | Synonymous | 7/8 | - | 1 |
6-43749728-T-A | c.1070T>A | p.L357* | Nonsense | 7/8 | - | 1 |
6-43749729-G-A | c.1071G>A | p.L357= | Synonymous | 7/8 | - | 1 |
6-43749730-T-C | c.1072T>C | p.F358L | Missense | 7/8 | - | 1 |
6-43749733-G-A | c.1075G>A | p.V359I | Missense | 7/8 | - | 2 |
6-43749734-T-C | c.1076T>C | p.V359A | Missense | 7/8 | - | 1 |
6-43749741-TC-T | c.1085del | p.P362Rfs*22 | Frameshift | 7/8 | - | 1 |
6-43749743-C-T | c.1085C>T | p.P362L | Missense | 7/8 | - | 4 |
6-43749745-C-T | c.1087C>T | p.Q363* | Nonsense | 7/8 | - | 2 |
6-43749751-GTGTAAATGTTCCTGCAAAAACACAGACTCGCGTTGCAAGGCGAGGC-G | c.1093_1138del | p.C365Sfs*4 | Frameshift | 7/8 | - | 1 |
6-43749751-TG-GA | c.1093_1094delinsGA | p.C365D | Missense | 7/8 | - | 1 |
6-43749757-T-G | c.1099T>G | p.C367G | Missense | 7/8 | - | 1 |
6-43749759-T-C | c.1101T>C | p.C367= | Synonymous | 7/8 | - | 1 |
6-43749760-T-G | c.1102T>G | p.S368A | Missense | 7/8 | - | 5 |
6-43749761-C-G | c.1103C>G | p.S368C | Missense | 7/8 | - | 1 |
6-43749762-C-A | c.1104C>A | p.S368= | Synonymous | 7/8 | - | 1 |
6-43749762-C-G | c.1104C>G | p.S368= | Synonymous | 7/8 | - | 1 |
6-43749762-C-T | c.1104C>T | p.S368= | Synonymous | 7/8 | - | 1 |
6-43749763-T-C | c.1105T>C | p.C369R | Missense | 7/8 | - | 1 |
6-43749765-C-G | c.1107C>G | p.C369W | Missense | 7/8 | - | 1 |
6-43749766-A-C | c.1108A>C | p.K370Q | Missense | 7/8 | - | 1 |
6-43749766-A-G | c.1108A>G | p.K370E | Missense | 7/8 | - | 5 |
6-43749767-AA-GC | c.1109_1110delinsGC | p.K370S | Missense | 7/8 | - | 1 |
6-43749768-A-C | c.1110A>C | p.K370N | Missense | 7/8 | - | 2 |
6-43749768-A-T | c.1110A>T | p.K370N | Missense | 7/8 | - | 2 |
6-43749769-A-C | c.1111A>C | p.N371H | Missense | 7/8 | - | 1 |
6-43749770-A-C | c.1112A>C | p.N371T | Missense | 7/8 | - | 1 |
6-43749771-C-T | c.1113C>T | p.N371= | Synonymous | 7/8 | - | 1 |
6-43749772-AC-GG | c.1114_1115delinsGG | p.T372G | Missense | 7/8 | - | 1 |
6-43749772-A-G | c.1114A>G | p.T372A | Missense | 7/8 | - | 1 |
6-43749773-C-G | c.1115C>G | p.T372R | Missense | 7/8 | - | 1 |
6-43749773-C-T | c.1115C>T | p.T372I | Missense | 7/8 | - | 1 |
6-43749775-G-A | c.1117G>A | p.D373N | Missense | 7/8 | - | 1 |
6-43749780-G-A | c.1122G>A | p.S374= | Synonymous | 7/8 | - | 2 |
6-43749780-G-C | c.1122G>C | p.S374= | Synonymous | 7/8 | - | 1 |
6-43749780-G-T | c.1122G>T | p.S374= | Synonymous | 7/8 | - | 1 |
6-43749781-CGT-TGG | c.1123_1125delinsTGG | p.R375W | Missense | 7/8 | - | 1 |
6-43749782-G-A | c.1124G>A | p.R375H | Missense | 7/8 | - | 1 |
6-43749782-G-C | c.1124G>C | p.R375P | Missense | 7/8 | - | 1 |
6-43749782-G-T | c.1124G>T | p.R375L | Missense | 7/8 | - | 1 |
6-43749784-T-C | c.1126T>C | p.C376R | Missense | 7/8 | - | 1 |
6-43749787-AA-GC | c.1129_1130delinsGC | p.K377A | Missense | 7/8 | - | 1 |
6-43749788-A-G | c.1130A>G | p.K377R | Missense | 7/8 | - | 2 |
6-43749789-G-C | c.1131G>C | p.K377N | Missense | 7/8 | - | 1 |
6-43749789-G-T | c.1131G>T | p.K377N | Missense | 7/8 | - | 1 |
6-43749791-C-T | c.1133C>T | p.A378V | Missense | 7/8 | - | 4 |
6-43749794-G-A | c.1136G>A | p.R379K | Missense | 7/8 | - | 1 |
6-43749795-G-C | c.1137G>C | p.R379S | Missense | 7/8 | - | 1 |
6-43749795-G-T | c.1137G>T | p.R379S | Missense | 7/8 | - | 1 |
6-43749803-A-T | c.1145A>T | p.E382V | Missense | 7/8 | - | 2 |
6-43749806-T-C | c.1148T>C | p.L383S | Missense | 7/8 | - | 1 |
6-43749808-A-G | c.1150A>G | p.N384D | Missense | 7/8 | - | 1 |
6-43749812-A-C | c.1154A>C | p.E385A | Missense | 7/8 | - | 2 |
6-43749812-A-G | c.1154A>G | p.E385G | Missense | 7/8 | - | 2 |
6-43749815-G-A | c.1157G>A | p.R386H | Missense | 7/8 | - | 1 |
6-43749822-C-T | c.1164C>T | p.C388= | Synonymous | 7/8 | - | 1 |
6-43749823-A-G | c.1165A>G | p.R389G | Missense | 7/8 | - | 7 |
6-43749824-G-A | c.1166G>A | p.R389K | Missense | 7/8 | - | 1 |
6-43749824-G-C | c.1166G>C | p.R389T | Missense | 7/8 | - | 2 |
6-43749876-GGA-G | c.1166+65_1166+66del | - | IntronicDeletion | - | 7/7 | 1 |
6-43749898-TGAGC-T | c.1166+88_1166+91del | - | IntronicDeletion | - | 7/7 | 1 |
6-43750491-T-A | c.1166+667T>A | - | IntronicSNV | - | 7/7 | 3 |
6-43750551-C-G | c.1166+727C>G | - | IntronicSNV | - | 7/7 | 6 |
6-43750556-G-A | c.1166+732G>A | - | IntronicSNV | - | 7/7 | 2 |
6-43750587-G-C | c.1166+763G>C | - | IntronicSNV | - | 7/7 | 23 |
6-43751037-T-C | c.1166+1213T>C | - | IntronicSNV | - | 7/7 | 2 |
6-43751075-A-G | c.1167-1203A>G | - | IntronicSNV | - | 7/7 | 32 |
6-43751191-G-T | c.1167-1087G>T | - | IntronicSNV | - | 7/7 | 1 |
6-43751359-C-T | c.1167-919C>T | - | IntronicSNV | - | 7/7 | 39 |
6-43751669-G-A | c.1167-609G>A | - | IntronicSNV | - | 7/7 | 3 |
6-43751669-G-C | c.1167-609G>C | - | IntronicSNV | - | 7/7 | 3 |
6-43751669-G-T | c.1167-609G>T | - | IntronicSNV | - | 7/7 | 3 |
6-43752083-C-T | c.1167-195C>T | - | IntronicSNV | - | 7/7 | 4 |
6-43749823-A-C | c.1165A>C | p.R389= | Synonymous | 7/8 | - | 2 |
6-43752278-A-G | c.1167A>G | p.R389= | Synonymous | 8/8 | - | 2 |
6-43752279-T-A | c.1168T>A | p.C390S | Missense | 8/8 | - | 1 |
6-43752280-G-T | c.1169G>T | p.C390F | Missense | 8/8 | - | 1 |
6-43752283-A-G | c.1172A>G | p.D391G | Missense | 8/8 | - | 1 |
6-43752284-C-A | c.1173C>A | p.D391E | Missense | 8/8 | - | 1 |
6-43752285-AA-CT | c.1174_1175delinsCT | p.K392L | Missense | 8/8 | - | 4 |
6-43752285-AAG-GAC | c.1174_1176delinsGAC | p.K392D | Missense | 8/8 | - | 8 |
6-43752285-AAG-TGT | c.1174_1176delinsTGT | p.K392C | Missense | 8/8 | - | 1 |
6-43752286-A-G | c.1175A>G | p.K392R | Missense | 8/8 | - | 1 |
6-43752287-G-T | c.1176G>T | p.K392N | Missense | 8/8 | - | 1 |
6-43752288-C-T | c.1177C>T | p.P393S | Missense | 8/8 | - | 1 |
6-43752291-AG-CA | c.1180_1181delinsCA | p.R394Q | Missense | 8/8 | - | 1 |
6-43752291-AGG-CAT | c.1180_1182delinsCAT | p.R394H | Missense | 8/8 | - | 1 |
6-43752291-AGG-GAC | c.1180_1182delinsGAC | p.R394D | Missense | 8/8 | - | 1 |
6-43752291-AG-TA | c.1180_1181delinsTA | p.R394* | Nonsense | 8/8 | - | 1 |
6-43752291-A-T | c.1180A>T | p.R394W | Missense | 8/8 | - | 7 |
6-43752292-G-A | c.1181G>A | p.R394K | Missense | 8/8 | - | 1 |
6-43752295-G-A | c.1184G>A | p.R395Q | Missense | 8/8 | - | 1 |
6-43752295-G-C | c.1184G>C | p.R395P | Missense | 8/8 | - | 1 |
6-43752298-G-A | c.1187G>A | p.*396= | Synonymous | 8/8 | - | 1 |
6-43752394-T-C | c.*95T>C | - | 3-UTRSNV | 8/8 | - | 2 |
6-43752438-A-G | c.*139A>G | - | 3-UTRSNV | 8/8 | - | 2 |
6-43752469-G-A | c.*170G>A | - | 3-UTRSNV | 8/8 | - | 3 |
6-43752469-G-T | c.*170G>T | - | 3-UTRSNV | 8/8 | - | 3 |
6-43752495-C-T | c.*196C>T | - | 3-UTRSNV | 8/8 | - | 1 |
6-43752503-C-T | c.*204C>T | - | 3-UTRSNV | 8/8 | - | 2 |
6-43752536-C-T | c.*237C>T | - | 3-UTRSNV | 8/8 | - | 344 |
6-43753051-C-T | c.*752C>T | - | 3-UTRSNV | 8/8 | - | 31 |
6-43753137-A-C | c.*838A>C | - | 3-UTRSNV | 8/8 | - | 1 |
6-43753137-A-G | c.*838A>G | - | 3-UTRSNV | 8/8 | - | 1 |
6-43753212-A-G | c.*913A>G | - | 3-UTRSNV | 8/8 | - | 82 |
6-43753325-G-A | c.*1026G>A | - | 3-UTRSNV | 8/8 | - | 15 |
6-43753722-G-A | c.*1423G>A | - | 3-UTRSNV | 8/8 | - | 1 |
6-43753722-G-T | c.*1423G>T | - | 3-UTRSNV | 8/8 | - | 1 |