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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADD1_chr4_2838844_2935062 | 2904980 | G | T | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(73): Show |
a0002a0008a0009 | a0002c0002a0008c0012a0009c0011 | a0002c0002t0001a0002c0002t0005a0002c0002t0011others(3): Show | a0002c0002t0001g0002a0002c0002t0001g0021a0002c0002t0001g0022others(72): Show | 76 | 320 | 0.2375 | 0 | c.137 others(4): Show |
p.Gly others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 10/16 | 1579/4140 | 1378/2400 | 460/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2908581 | G | A | missense_variant | MODERATE | HG00639.hp2 HG03239.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0239a0004c0006t0001g0248 | 2 | 320 | 0.0063 | 0 | c.167 others(4): Show |
p.Val others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 12/16 | 1876/4140 | 1675/2400 | 559/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2915035 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(84): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0012others(1): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0011others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0021a0002c0002t0001g0022others(83): Show | 87 | 320 | 0.2719 | 0 | c.194 others(4): Show |
p.Ser others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 14/16 | 2144/4140 | 1943/2400 | 648/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2926034 | G | A | missense_variant | MODERATE | HG02886.hp1 | a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0252 | 1 | 320 | 0.0031 | 0 | c.196 others(4): Show |
p.Glu others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 15/16 | 2170/4140 | 1969/2400 | 657/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2926076 | C | A | missense_variant | MODERATE | NA18948.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0081 | 1 | 320 | 0.0031 | 0 | c.201 others(4): Show |
p.His others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 15/16 | 2212/4140 | 2011/2400 | 671/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2926077 | A | C | missense_variant | MODERATE | NA18948.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0081 | 1 | 320 | 0.0031 | 0 | c.201 others(4): Show |
p.His others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 15/16 | 2213/4140 | 2012/2400 | 671/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2926080 | C | T | missense_variant | MODERATE | NA19002.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0186 | 1 | 320 | 0.0031 | 0 | c.201 others(4): Show |
p.Pro others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 15/16 | 2216/4140 | 2015/2400 | 672/799 | chr4 | TogoVar | ||
ADD1_chr4_2838844_2935062 | 2928287 | A | G | missense_variant | MODERATE | HG03688.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0205 | 1 | 320 | 0.0031 | 0 | c.216 others(4): Show |
p.Lys others(6): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 16/16 | 2365/4140 | 2164/2400 | 722/799 | chr4 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70672923 | C | T | missense_variant | MODERATE | HG02451.hp1 | a0009 | a0009c0011 | a0009c0011t0006 | a0009c0011t0006g0227 | 1 | 302 | 0.0033 | 0 | c.182 others(4): Show |
p.Ala others(6): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 15/16 | 2293/9290 | 1825/2181 | 609/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70672962 | A | G | missense_variant | MODERATE | HG02895.hp2 | a0008 | a0008c0010 | a0008c0010t0054 | a0008c0010t0054g0082 | 1 | 302 | 0.0033 | 0 | c.178 others(4): Show |
p.Ser others(6): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 15/16 | 2254/9290 | 1786/2181 | 596/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70683711 | C | A | missense_variant | MODERATE | HG02572.hp2 HG02886.hp1 HG02896.hp1 others(1): Show |
a0004 | a0004c0003 | a0004c0003t0002a0004c0003t0004a0004c0003t0029others(1): Show | a0004c0003t0002g0100a0004c0003t0004g0099a0004c0003t0029g0052others(1): Show | 4 | 302 | 0.0133 | 0 | c.100 others(4): Show |
p.Glu others(6): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 10/16 | 1473/9290 | 1005/2181 | 335/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70696381 | G | A | missense_variant | MODERATE | HG04199.hp2 | a0007 | a0007c0013 | a0007c0013t0063 | a0007c0013t0063g0155 | 1 | 302 | 0.0033 | 0 | c.338 others(3): Show |
p.Thr others(6): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 5/16 | 806/9290 | 338/2181 | 113/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70704350 | G | C | missense_variant | MODERATE | HG02258.hp1 HG03453.hp1 HG03471.hp2 others(2): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0016a0003c0005t0024 | a0003c0004t0016g0063a0003c0004t0016g0064a0003c0004t0016g0078others(1): Show | 5 | 302 | 0.0166 | 0 | c.293 others(3): Show |
p.Ser others(5): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 4/16 | 761/9290 | 293/2181 | 98/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70706265 | C | T | missense_variant | MODERATE | HG02698.hp1 | a0006 | a0006c0008 | a0006c0008t0040 | a0006c0008t0040g0090 | 1 | 302 | 0.0033 | 0 | c.144 others(3): Show |
p.Met others(5): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 3/16 | 612/9290 | 144/2181 | 48/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70706327 | C | T | missense_variant | MODERATE | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0022others(1): Show | a0002c0002t0002g0107a0002c0002t0009g0105a0002c0002t0009g0106others(7): Show | 10 | 302 | 0.0331 | 0 | c.82G others(2): Show |
p.Asp others(5): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 3/16 | 550/9290 | 82/2181 | 28/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70706362 | T | C | missense_variant | MODERATE | HG01884.hp2 HG02647.hp1 |
a0005 | a0005c0006 | a0005c0006t0031 | a0005c0006t0031g0203a0005c0006t0031g0204 | 2 | 302 | 0.0066 | 0 | c.47A others(2): Show |
p.Gln others(5): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 3/16 | 515/9290 | 47/2181 | 16/726 | chr2 | TogoVar | ||
ADD2_chr2_70651784_70773200 | 70706366 | G | T | missense_variant | MODERATE | HG02615.hp2 | a0010 | a0010c0007 | a0010c0007t0019 | a0010c0007t0019g0211 | 1 | 302 | 0.0033 | 0 | c.43C others(2): Show |
p.Pro others(5): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 3/16 | 511/9290 | 43/2181 | 15/726 | chr2 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110112826 | G | A | missense_variant | MODERATE | HG02135.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0174 | 1 | 288 | 0.0035 | 0 | c.245 others(3): Show |
p.Gly others(5): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 3/15 | 590/4413 | 245/2121 | 82/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110112885 | T | C | missense_variant | MODERATE | HG02572.hp1 HG02622.hp1 HG02922.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0141a0003c0003t0001g0142a0003c0003t0001g0143others(3): Show | 6 | 288 | 0.0208 | 0 | c.304 others(3): Show |
p.Ser others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 3/15 | 649/4413 | 304/2121 | 102/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110116370 | A | G | missense_variant | MODERATE | HG03516.hp1 | a0011 | a0011c0016 | a0011c0016t0003 | a0011c0016t0003g0280 | 1 | 288 | 0.0035 | 0 | c.446 others(3): Show |
p.Asp others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 4/15 | 791/4413 | 446/2121 | 149/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110117373 | T | C | missense_variant | MODERATE | HG01891.hp1 | a0010 | a0010c0007 | a0010c0007t0003 | a0010c0007t0003g0278 | 1 | 288 | 0.0035 | 0 | c.518 others(3): Show |
p.Ile others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 5/15 | 863/4413 | 518/2121 | 173/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110119538 | A | G | missense_variant | MODERATE | HG03927.hp2 | a0006 | a0006c0014 | a0006c0014t0002 | a0006c0014t0002g0206 | 1 | 288 | 0.0035 | 0 | c.934 others(3): Show |
p.Asn others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 8/15 | 1279/4413 | 934/2121 | 312/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110124035 | G | C | missense_variant | MODERATE | NA21309.hp2 | a0009 | a0009c0008 | a0009c0008t0018 | a0009c0008t0018g0261 | 1 | 288 | 0.0035 | 0 | c.116 others(4): Show |
p.Ala others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 10/15 | 1507/4413 | 1162/2121 | 388/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110125875 | A | C | missense_variant | MODERATE | NA20129.hp1 | a0008 | a0008c0011 | a0008c0011t0005 | a0008c0011t0005g0096 | 1 | 288 | 0.0035 | 0 | c.145 others(4): Show |
p.Lys others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 11/15 | 1796/4413 | 1451/2121 | 484/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110130393 | C | T | missense_variant | MODERATE | HG01258.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0234 | 1 | 288 | 0.0035 | 0 | c.163 others(4): Show |
p.Pro others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 13/15 | 1984/4413 | 1639/2121 | 547/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110132308 | C | G | missense_variant | MODERATE | HG01243.hp1 HG03098.hp2 HG03579.hp2 |
a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0100a0004c0005t0003g0101a0004c0005t0003g0102 | 3 | 288 | 0.0104 | 0 | c.173 others(4): Show |
p.Ala others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 14/15 | 2081/4413 | 1736/2121 | 579/706 | chr10 | TogoVar | ||
ADD3_chr10_110002984_110140565 | 110133402 | G | C | missense_variant | MODERATE | HG02257.hp2 HG02258.hp1 HG02647.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129a0002c0002t0001g0130a0002c0002t0001g0131others(6): Show | 9 | 288 | 0.0313 | 0 | c.190 others(4): Show |
p.Met others(6): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 15/15 | 2250/4413 | 1905/2121 | 635/706 | chr10 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146635378 | C | A | missense_variant | MODERATE | HG02258.hp2 HG03540.hp2 |
a0035a0036 | a0035c0041a0036c0040 | a0035c0041t0003a0036c0040t0001 | a0035c0041t0003g0030a0036c0040t0001g0031 | 2 | 276 | 0.0073 | 0 | c.78C others(2): Show |
p.Phe others(5): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 2/36 | 147/5318 | 78/5004 | 26/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146666821 | A | G | missense_variant | MODERATE | HG03225.hp2 | a0034 | a0034c0072 | a0034c0072t0001 | a0034c0072t0001g0158 | 1 | 276 | 0.0036 | 0 | c.758 others(3): Show |
p.His others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 7/36 | 827/5318 | 758/5004 | 253/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146672309 | T | C | missense_variant | MODERATE | HG00438.hp1 HG00639.hp2 HG00642.hp1 others(77): Show |
a0004a0005a0006others(11): Show | a0004c0008a0004c0010a0004c0012others(26): Show | a0004c0008t0002a0004c0010t0002a0004c0012t0002others(27): Show | a0004c0008t0002g0003a0004c0008t0002g0087a0004c0008t0002g0088others(77): Show | 80 | 276 | 0.2899 | 0 | c.929 others(3): Show |
p.Ile others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 8/36 | 998/5318 | 929/5004 | 310/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146672404 | T | C | missense_variant | MODERATE | NA18906.hp2 | a0033 | a0033c0042 | a0033c0042t0001 | a0033c0042t0001g0193 | 1 | 276 | 0.0036 | 0 | c.102 others(4): Show |
p.Phe others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 8/36 | 1093/5318 | 1024/5004 | 342/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146672437 | G | C | missense_variant | MODERATE | HG02630.hp1 HG02647.hp1 HG02818.hp1 others(6): Show |
a0011a0016a0025others(1): Show | a0011c0032a0011c0033a0011c0056others(4): Show | a0011c0032t0001a0011c0033t0001a0011c0056t0001others(4): Show | a0011c0032t0001g0226a0011c0032t0001g0227a0011c0033t0001g0050others(6): Show | 9 | 276 | 0.0326 | 0 | c.105 others(4): Show |
p.Ala others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 8/36 | 1126/5318 | 1057/5004 | 353/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146676399 | C | T | missense_variant | MODERATE | HG03942.hp1 | a0024 | a0024c0069 | a0024c0069t0001 | a0024c0069t0001g0219 | 1 | 276 | 0.0036 | 0 | c.117 others(4): Show |
p.Pro others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 9/36 | 1243/5318 | 1174/5004 | 392/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146701009 | C | G | missense_variant | MODERATE | NA18942.hp2 | a0027 | a0027c0051 | a0027c0051t0001 | a0027c0051t0001g0084 | 1 | 276 | 0.0036 | 0 | c.164 others(4): Show |
p.Thr others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 13/36 | 1715/5318 | 1646/5004 | 549/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146701026 | C | T | missense_variant | MODERATE | HG01258.hp1 | a0023 | a0023c0073 | a0023c0073t0002 | a0023c0073t0002g0173 | 1 | 276 | 0.0036 | 0 | c.166 others(4): Show |
p.His others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 13/36 | 1732/5318 | 1663/5004 | 555/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146701044 | A | G | missense_variant | MODERATE | HG03942.hp1 | a0024 | a0024c0069 | a0024c0069t0001 | a0024c0069t0001g0219 | 1 | 276 | 0.0036 | 0 | c.168 others(4): Show |
p.Ser others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 13/36 | 1750/5318 | 1681/5004 | 561/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146716953 | G | T | missense_variant | MODERATE | HG00609.hp2 HG01081.hp1 HG01516.hp1 others(32): Show |
a0007a0008a0009others(6): Show | a0007c0017a0007c0021a0007c0074others(16): Show | a0007c0017t0001a0007c0021t0001a0007c0074t0001others(19): Show | a0007c0017t0001g0020a0007c0017t0001g0123a0007c0017t0001g0230others(31): Show | 35 | 276 | 0.1268 | 0 | c.181 others(4): Show |
p.Glu others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 15/36 | 1881/5318 | 1812/5004 | 604/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146717030 | A | C | missense_variant | MODERATE | NA18997.hp1 | a0020 | a0020c0065 | a0020c0065t0002 | a0020c0065t0002g0033 | 1 | 276 | 0.0036 | 0 | c.188 others(4): Show |
p.Glu others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 15/36 | 1958/5318 | 1889/5004 | 630/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146724237 | C | T | missense_variant | MODERATE | HG02258.hp2 | a0035 | a0035c0041 | a0035c0041t0003 | a0035c0041t0003g0030 | 1 | 276 | 0.0036 | 0 | c.214 others(4): Show |
p.Thr others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 18/36 | 2216/5318 | 2147/5004 | 716/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146726160 | T | C | missense_variant | MODERATE | HG00639.hp1 HG00738.hp2 HG01255.hp2 others(6): Show |
a0010a0021a0022others(2): Show | a0010c0014a0021c0070a0022c0057others(2): Show | a0010c0014t0001a0021c0070t0002a0022c0057t0001others(2): Show | a0010c0014t0001g0124a0010c0014t0001g0136a0010c0014t0001g0138others(6): Show | 9 | 276 | 0.0326 | 0 | c.231 others(4): Show |
p.Ile others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 19/36 | 2384/5318 | 2315/5004 | 772/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146733142 | G | A | missense_variant | MODERATE | HG02145.hp1 HG02809.hp2 HG03516.hp2 |
a0014a0018 | a0014c0058a0014c0075a0018c0078 | a0014c0058t0001a0014c0075t0002a0018c0078t0002 | a0014c0058t0001g0243a0014c0075t0002g0222a0018c0078t0002g0233 | 3 | 276 | 0.0109 | 0 | c.254 others(4): Show |
p.Arg others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 21/36 | 2612/5318 | 2543/5004 | 848/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146733907 | G | A | missense_variant | MODERATE | HG02683.hp2 HG03927.hp1 |
a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0029a0017c0024t0002g0133 | 2 | 276 | 0.0073 | 0 | c.267 others(4): Show |
p.Val others(6): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 22/36 | 2740/5318 | 2671/5004 | 891/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146752576 | C | T | missense_variant | MODERATE | HG03195.hp1 | a0019 | a0019c0068 | a0019c0068t0001 | a0019c0068t0001g0228 | 1 | 276 | 0.0036 | 0 | c.341 others(4): Show |
p.Arg others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 27/36 | 3481/5318 | 3412/5004 | 1138/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146763979 | G | T | missense_variant | MODERATE | HG03486.hp2 | a0026 | a0026c0053 | a0026c0053t0001 | a0026c0053t0001g0064 | 1 | 276 | 0.0036 | 0 | c.362 others(4): Show |
p.Gly others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 28/36 | 3698/5318 | 3629/5004 | 1210/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146764036 | C | A | missense_variant | MODERATE | HG02280.hp2 | a0029 | a0029c0045 | a0029c0045t0002 | a0029c0045t0002g0023 | 1 | 276 | 0.0036 | 0 | c.368 others(4): Show |
p.Pro others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 28/36 | 3755/5318 | 3686/5004 | 1229/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146788556 | G | T | missense_variant | MODERATE | HG01891.hp2 HG03209.hp1 NA18522.hp1 others(1): Show |
a0013a0028a0030 | a0013c0039a0028c0050a0030c0046 | a0013c0039t0001a0028c0050t0002a0030c0046t0002 | a0013c0039t0001g0130a0013c0039t0001g0224a0028c0050t0002g0185others(1): Show | 4 | 276 | 0.0145 | 0 | c.448 others(4): Show |
p.Val others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 33/36 | 4552/5318 | 4483/5004 | 1495/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146788595 | C | T | missense_variant | MODERATE | HG01243.hp1 NA18747.hp1 |
a0015 | a0015c0062a0015c0063 | a0015c0062t0002a0015c0063t0002 | a0015c0062t0002g0043a0015c0063t0002g0183 | 2 | 276 | 0.0073 | 0 | c.452 others(4): Show |
p.Arg others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 33/36 | 4591/5318 | 4522/5004 | 1508/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146815071 | C | T | missense_variant | MODERATE | NA18522.hp1 | a0030 | a0030c0046 | a0030c0046t0002 | a0030c0046t0002g0014 | 1 | 276 | 0.0036 | 0 | c.485 others(4): Show |
p.Arg others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 36/36 | 4927/5318 | 4858/5004 | 1620/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146815076 | A | T | missense_variant | MODERATE | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(126): Show |
a0001a0004a0008others(10): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(28): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0044others(125): Show | 129 | 276 | 0.4674 | 0 | c.486 others(4): Show |
p.Glu others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 36/36 | 4932/5318 | 4863/5004 | 1621/1667 | chr6 | TogoVar | ||
ADGB_chr6_146593972_146820462 | 146815108 | A | G | missense_variant | MODERATE | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(209): Show |
a0001a0003a0004others(23): Show | a0001c0001a0001c0002a0001c0004others(58): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(64): Show | a0001c0001t0002g0027a0001c0001t0002g0038a0001c0001t0002g0044others(208): Show | 212 | 276 | 0.7681 | 0 | c.489 others(4): Show |
p.His others(7): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 36/36 | 4964/5318 | 4895/5004 | 1632/1667 | chr6 | TogoVar |