regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP57_chr1_43167330_43259358 | 43186708 | T | C | missense_variant others(1): Show |
MODERATE | HG02886.hp1 | a0022 | a0022c0045 | a0022c0045t0001 | a0022c0045t0001g0003 | 1 | 308 | 0.0033 | 0 | c.971 others(3): Show |
p.Ile others(6): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 6/23 | 1114/4063 | 971/3753 | 324/1250 | chr1 | TogoVar | ||
CFAP57_chr1_43167330_43259358 | 43223004 | G | T | splice_region_variant others(1): Show |
LOW | HG02451.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0268 | 1 | 308 | 0.0033 | 0 | c.270 others(6): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 16/22 | chr1 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104358337 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | 308 | 0.0065 | 0 | c.10- others(4): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104368423 | A | T | missense_variant others(1): Show |
MODERATE | HG00423.hp2 | a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0215 | 1 | 308 | 0.0033 | 0 | c.793 others(3): Show |
p.Ile others(6): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 6/18 | 858/3256 | 793/2619 | 265/872 | chr10 | TogoVar | ||
CFAP58_chr10_104348833_104460102 | 104447693 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(50): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0050a0001c0001t0001g0051others(49): Show | 53 | 308 | 0.1721 | 0 | c.225 others(6): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20052598 | A | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(115): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0154a0001c0001t0001g0157a0001c0001t0001g0162others(115): Show | 118 | 236 | 0.5000 | 0 | c.-37 others(5): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 1/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20166389 | G | T | splice_region_variant others(1): Show |
LOW | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 236 | 0.0042 | 0 | c.120 others(6): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 11/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20246213 | C | A | missense_variant others(1): Show |
MODERATE | HG02622.hp1 HG02647.hp2 |
a0009 | a0009c0014 | a0009c0014t0006a0009c0014t0007 | a0009c0014t0006g0007a0009c0014t0007g0006 | 2 | 236 | 0.0085 | 0 | c.215 others(4): Show |
p.Ser others(6): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 19/27 | 2253/4098 | 2157/3714 | 719/1237 | chr20 | TogoVar | ||
CFAP61_chr20_20047532_20365698 | 20290300 | G | A | missense_variant others(1): Show |
MODERATE | HG01891.hp1 | a0017 | a0017c0037 | a0017c0037t0005 | a0017c0037t0005g0138 | 1 | 236 | 0.0042 | 0 | c.312 others(4): Show |
p.Gly others(7): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/27 | 3221/4098 | 3125/3714 | 1042/1237 | chr20 | TogoVar | ||
CFAP65_chr2_218997846_219046516 | 219009154 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG02717.hp1 |
a0020a0035 | a0020c0047a0035c0050 | a0020c0047t0001a0035c0050t0001 | a0020c0047t0001g0152a0035c0050t0001g0032 | 2 | 322 | 0.0062 | 0 | c.456 others(4): Show |
p.Leu others(7): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 29/35 | 4644/5946 | 4567/5778 | 1523/1925 | chr2 | TogoVar | ||
CFAP65_chr2_218997846_219046516 | 219021144 | CTAGGTAC others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0227 | 1 | 322 | 0.0031 | -27 | c.324 others(38): Show |
p.Tyr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3240/5778 | 1080/1925 | chr2 | TogoVar | |||
CFAP65_chr2_218997846_219046516 | 219021285 | T | G | splice_region_variant others(1): Show |
LOW | NA19082.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0227 | 1 | 322 | 0.0031 | 0 | c.313 others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 18/34 | chr2 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219022328 | G | A | missense_variant others(1): Show |
MODERATE | HG02896.hp1 | a0038 | a0038c0046 | a0038c0046t0001 | a0038c0046t0001g0143 | 1 | 322 | 0.0031 | 0 | c.282 others(4): Show |
p.Thr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 17/35 | 2899/5946 | 2822/5778 | 941/1925 | chr2 | TogoVar | ||
CFAP65_chr2_218997846_219046516 | 219028016 | G | C | splice_region_variant others(1): Show |
LOW | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 322 | 0.0031 | 0 | c.185 others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 12/34 | chr2 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219029980 | C | T | splice_region_variant others(1): Show |
LOW | NA19002.hp2 | a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0084 | 1 | 322 | 0.0031 | 0 | c.138 others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 10/34 | chr2 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219031309 | G | A | splice_region_variant others(1): Show |
LOW | HG02280.hp1 | a0040 | a0040c0051 | a0040c0051t0001 | a0040c0051t0001g0054 | 1 | 322 | 0.0031 | 0 | c.816 others(5): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 7/34 | chr2 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90268389 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00639.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0004 | a0001c0006a0002c0001a0004c0007 | a0001c0006t0001a0002c0001t0001a0004c0007t0001 | a0001c0006t0001g0163a0001c0006t0001g0262a0001c0006t0001g0263others(21): Show | 25 | 338 | 0.0740 | 0 | c.532 others(5): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 6/22 | chr7 | TogoVar | ||||||
CFAP69_chr7_90240174_90316063 | 90307854 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0018a0001c0003t0001g0019others(29): Show | 35 | 338 | 0.1036 | 0 | c.255 others(4): Show |
p.Lys others(6): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 21/23 | 2801/3902 | 2550/2826 | 850/941 | chr7 | TogoVar | ||
CFAP69_chr7_90240174_90316063 | 90309366 | C | T | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0002a0009 | a0002c0001a0009c0017 | a0002c0001t0001a0002c0001t0007a0009c0017t0001 | a0002c0001t0001g0001a0002c0001t0001g0003a0002c0001t0001g0004others(108): Show | 119 | 338 | 0.3521 | 0 | c.265 others(4): Show |
p.Thr others(6): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 22/23 | 2905/3902 | 2654/2826 | 885/941 | chr7 | TogoVar | ||
CFAP70_chr10_73248762_73363864 | 73345242 | C | T | splice_region_variant others(1): Show |
LOW | HG03098.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0016 | 1 | 220 | 0.0046 | 0 | c.432 others(3): Show |
p.Gln others(6): Show |
CFAP70 | ENSG00000156042.19 | transcript | ENST00000355577.9 | protein_coding | 6/28 | 558/3705 | 432/3366 | 144/1121 | chr10 | TogoVar | ||
CFAP74_chr1_1916957_2008786 | 1923497 | T | G | missense_variant others(1): Show |
MODERATE | NA19009.hp2 | a0047 | a0047c0085 | a0047c0085t0001 | a0047c0085t0001g0129 | 1 | 278 | 0.0036 | 0 | c.439 others(4): Show |
p.Lys others(7): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 36/39 | 4497/5355 | 4392/4920 | 1464/1639 | chr1 | TogoVar | ||
CFAP74_chr1_1916957_2008786 | 1923498 | T | G | missense_variant others(1): Show |
MODERATE | NA19009.hp2 | a0047 | a0047c0085 | a0047c0085t0001 | a0047c0085t0001g0129 | 1 | 278 | 0.0036 | 0 | c.439 others(4): Show |
p.Lys others(7): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 36/39 | 4496/5355 | 4391/4920 | 1464/1639 | chr1 | TogoVar | ||
CFAP74_chr1_1916957_2008786 | 1926457 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 HG03195.hp1 HG03579.hp2 |
a0014 | a0014c0029a0014c0046 | a0014c0029t0001a0014c0046t0001 | a0014c0029t0001g0012a0014c0029t0001g0127a0014c0046t0001g0087 | 3 | 278 | 0.0108 | 0 | c.382 others(4): Show |
p.Ala others(7): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 31/39 | 3933/5355 | 3828/4920 | 1276/1639 | chr1 | TogoVar | ||
CFAP74_chr1_1916957_2008786 | 1927750 | T | TG | splice_region_variant others(1): Show |
LOW | HG00639.hp2 HG01169.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0005others(5): Show | a0001c0081a0002c0084a0005c0007others(6): Show | a0001c0081t0001a0002c0084t0002a0005c0007t0001others(6): Show | a0001c0081t0001g0196a0002c0084t0002g0051a0005c0007t0001g0150others(6): Show | 9 | 278 | 0.0324 | 1 | c.338 others(7): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1928769 | CCGGGCCC others(6): Show |
C | splice_donor_variant others(2): Show |
HIGH | NA18947.hp1 | a0024 | a0024c0039 | a0024c0039t0001 | a0024c0039t0001g0063 | 1 | 278 | 0.0036 | -13 | c.338 others(27): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 27/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1930341 | A | T | splice_region_variant others(1): Show |
LOW | HG03704.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0094 | 1 | 278 | 0.0036 | 0 | c.301 others(6): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1960038 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG01109.hp1 HG01884.hp1 others(30): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0022a0001c0055others(20): Show | a0001c0001t0001a0001c0022t0001a0001c0055t0001others(20): Show | a0001c0001t0001g0238a0001c0022t0001g0016a0001c0055t0001g0230others(30): Show | 33 | 278 | 0.1187 | 0 | c.169 others(6): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 14/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132542942 | A | G | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01106.hp1 HG01109.hp2 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0021a0001c0001t0001g0078a0001c0001t0001g0079others(46): Show | 49 | 322 | 0.1522 | 0 | c.631 others(5): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
CFAP90_chr5_7825378_7856133 | 7835503 | G | GA | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0016others(44): Show | 119 | 420 | 0.2833 | 1 | c.148 others(6): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119726167 | G | A | splice_region_variant others(1): Show |
LOW | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 386 | 0.0026 | 0 | c.683 others(5): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 6/17 | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119726354 | T | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00621.hp2 HG02027.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0110a0001c0001t0001g0116others(14): Show | 19 | 386 | 0.0492 | 0 | c.860 others(5): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
CFAP91_chr3_119698022_119772102 | 119767102 | A | T | splice_region_variant | LOW | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(141): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0002others(27): Show | a0001c0001t0003g0111a0001c0001t0003g0114a0001c0001t0003g0124others(126): Show | 144 | 386 | 0.3731 | 0 | c.*20 others(5): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 18/18 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128915120 | T | G | splice_region_variant others(1): Show |
LOW | HG02451.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0198 | 1 | 342 | 0.0029 | 0 | c.327 others(4): Show |
p.Thr others(7): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 15/16 | 3408/3870 | 3279/3315 | 1093/1104 | chr3 | TogoVar | ||
CFAP92_chr3_128904873_128999076 | 128932693 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(108): Show |
a0001a0005a0008others(3): Show | a0001c0001a0001c0003a0005c0008others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(106): Show | 111 | 342 | 0.3246 | 0 | c.275 others(6): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128944223 | GCACCTGG others(2064): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03239.hp2 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0296 | 1 | 342 | 0.0029 | -2071 | c.135 others(17): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128945073 | G | C | missense_variant others(1): Show |
MODERATE | HG01243.hp2 | a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0276 | 1 | 342 | 0.0029 | 0 | c.225 others(4): Show |
p.Ser others(6): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/16 | 2385/3870 | 2256/3315 | 752/1104 | chr3 | TogoVar | ||
CFAP92_chr3_128904873_128999076 | 128945979 | C | T | splice_region_variant others(1): Show |
LOW | HG03471.hp1 | a0017 | a0017c0014 | a0017c0014t0001 | a0017c0014t0001g0205 | 1 | 342 | 0.0029 | 0 | c.135 others(6): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP97D1_chr17_43775435_43792620 | 43781766 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 3 | 402 | 0.0075 | 0 | c.196 others(5): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
CFAP97D1_chr17_43775435_43792620 | 43783897 | T | G | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 2 | 402 | 0.0050 | 0 | c.495 others(5): Show |
CFAP97D1 | ENSG00000231256.8 | transcript | ENST00000449302.8 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185191215 | G | GA | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(7): Show | a0001c0003t0004a0001c0004t0007a0001c0004t0009others(15): Show | a0001c0003t0004g0032a0001c0003t0004g0033a0001c0003t0004g0034others(150): Show | 177 | 350 | 0.5057 | 1 | c.-16 others(6): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
CFB_chr6_31941095_31957084 | 31949564 | A | C | splice_region_variant others(1): Show |
LOW | NA20129.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0029 | 1 | 431 | 0.0023 | 0 | c.140 others(6): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 10/17 | chr6 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130598959 | C | T | splice_region_variant others(1): Show |
LOW | NA18981.hp1 NA19087.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0010 | 2 | 242 | 0.0083 | 0 | c.24G others(2): Show |
p.Arg others(4): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 2/6 | 312/1672 | 24/672 | 8/223 | chr2 | TogoVar | ||
CFDP1_chr16_75288710_75438503 | 75412537 | T | C | missense_variant others(1): Show |
MODERATE | HG00621.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0247 | 1 | 314 | 0.0032 | 0 | c.400 others(3): Show |
p.Lys others(6): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 3/7 | 551/1293 | 400/900 | 134/299 | chr16 | TogoVar | ||
CFD_chr19_854664_868641 | 861692 | C | T | splice_region_variant others(1): Show |
LOW | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 287 | 0.0035 | 0 | c.358 others(5): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196951035 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0099 | 1 | 370 | 0.0027 | 0 | c.430 others(5): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196790033 | A | AT | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(116): Show |
a0002a0006 | a0002c0001a0006c0008 | a0002c0001t0002a0002c0001t0003a0002c0001t0008others(5): Show | a0002c0001t0002g0003a0002c0001t0002g0004a0002c0001t0002g0005others(60): Show | 119 | 261 | 0.4559 | 1 | c.614 others(6): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR4_chr1_196883052_196923633 | 196902615 | A | G | missense_variant others(1): Show |
MODERATE | NA19072.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0016 | 1 | 350 | 0.0029 | 0 | c.256 others(3): Show |
p.Arg others(5): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2/10 | 355/2063 | 256/1737 | 86/578 | chr1 | TogoVar | ||
CFHR4_chr1_196883052_196923633 | 196907501 | A | C | splice_region_variant others(1): Show |
LOW | HG01099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0145 | 1 | 350 | 0.0029 | 0 | c.799 others(5): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196912926 | A | C | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0170 | 1 | 350 | 0.0029 | 0 | c.118 others(6): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 7/9 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196918632 | G | A | splice_region_variant | LOW | HG02280.hp1 HG03098.hp2 NA19030.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0045a0004c0004t0002g0167 | 3 | 350 | 0.0086 | 0 | c.*22 others(4): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 10/10 | chr1 | TogoVar |