view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADPRM_chr17_10692594_10716558 | 10704990 | G | A | missense_variant | MODERATE | HG03927.hp1 NA18956.hp1 NA19059.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0059 a0004c0004t0006g0060 a0004c0004t0006g0061 |
3 | 400 | 0.0075 | 0 | c.64G others(2): Show |
p.Val others(5): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 2/4 | 155/1534 | 64/1029 | 22/342 | chr17 | TogoVar | |||
ADPRM_chr17_10692594_10716558 | 10705201 | T | G | missense_variant | MODERATE | HG00738.hp2 HG02027.hp2 HG03239.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 a0003c0003t0002g0003 |
5 | 400 | 0.0125 | 0 | c.275 others(3): Show |
p.Leu others(5): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 2/4 | 366/1534 | 275/1029 | 92/342 | chr17 | TogoVar | |||
ADPRM_chr17_10692594_10716558 | 10705211 | C | G | missense_variant | MODERATE | HG02809.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0002 | 1 | 400 | 0.0025 | 0 | c.285 others(3): Show |
p.Asp others(5): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 2/4 | 376/1534 | 285/1029 | 95/342 | chr17 | TogoVar | |||
ADPRM_chr17_10692594_10716558 | 10711125 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(173): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0009others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 others(76): Show |
176 | 400 | 0.4400 | 0 | c.101 others(4): Show |
p.Glu others(6): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 4/4 | 1101/1534 | 1010/1029 | 337/342 | chr17 | TogoVar | |||
ADPRS_chr1_36083892_36098932 | 36092018 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(98): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0027 others(5): Show |
101 | 408 | 0.2475 | 0 | c.625 others(3): Show |
p.Glu others(6): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 4/6 | 638/1651 | 625/1092 | 209/363 | chr1 | TogoVar | |||
ADPRS_chr1_36083892_36098932 | 36092438 | C | T | missense_variant | MODERATE | NA18993.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0005 | 1 | 408 | 0.0025 | 0 | c.718 others(3): Show |
p.Arg others(6): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 5/6 | 731/1651 | 718/1092 | 240/363 | chr1 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26770155 | T | A | missense_variant | MODERATE | HG00438.hp1 HG01099.hp1 HG01167.hp2 others(14): Show |
a0003a0009a0013 | a0003c0003a0009c0008a0013c0013 | a0003c0003t0001a0003c0003t0002a0003c0003t0008others(4): Show | a0003c0003t0001g0004 a0003c0003t0001g0090 a0003c0003t0001g0143 others(12): Show |
17 | 386 | 0.0440 | 0 | c.139 others(4): Show |
p.Glu others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 3/3 | 2424/3770 | 1395/1401 | 465/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26770336 | C | T | missense_variant | MODERATE | HG03669.hp2 | a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0235 | 1 | 386 | 0.0026 | 0 | c.121 others(4): Show |
p.Arg others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 3/3 | 2243/3770 | 1214/1401 | 405/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26770378 | G | A | missense_variant | MODERATE | NA19068.hp2 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0088 | 1 | 386 | 0.0026 | 0 | c.117 others(4): Show |
p.Thr others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 3/3 | 2201/3770 | 1172/1401 | 391/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26770511 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(274): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0010a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 others(265): Show |
277 | 386 | 0.7176 | 0 | c.103 others(4): Show |
p.Cys others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 3/3 | 2068/3770 | 1039/1401 | 347/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26770543 | G | C | missense_variant | MODERATE | NA19012.hp2 | a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0215 | 1 | 386 | 0.0026 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 3/3 | 2036/3770 | 1007/1401 | 336/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26864231 | C | T | missense_variant | MODERATE | HG01952.hp2 NA18943.hp1 NA18970.hp2 others(6): Show |
a0004a0011a0013 | a0004c0004a0011c0014a0013c0013 | a0004c0004t0001a0004c0004t0003a0004c0004t0010others(2): Show | a0004c0004t0001g0081 a0004c0004t0003g0080 a0004c0004t0003g0082 others(6): Show |
9 | 386 | 0.0233 | 0 | c.739 others(3): Show |
p.Gly others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/3 | 1768/3770 | 739/1401 | 247/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26864291 | A | G | missense_variant | MODERATE | HG01123.hp1 HG01257.hp1 HG01258.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0001 a0005c0005t0002g0224 |
4 | 386 | 0.0104 | 0 | c.679 others(3): Show |
p.Ser others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/3 | 1708/3770 | 679/1401 | 227/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26864371 | A | C | missense_variant | MODERATE | HG01081.hp2 HG01256.hp2 HG01993.hp2 others(3): Show |
a0007a0008a0009 | a0007c0009a0008c0007a0009c0008 | a0007c0009t0001a0008c0007t0008a0008c0007t0021others(1): Show | a0007c0009t0001g0077 a0007c0009t0001g0078 a0008c0007t0008g0075 others(3): Show |
6 | 386 | 0.0155 | 0 | c.599 others(3): Show |
p.Ile others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/3 | 1628/3770 | 599/1401 | 200/466 | chr8 | TogoVar | |||
ADRA1A_chr8_26763809_26872278 | 26864473 | C | T | missense_variant | MODERATE | HG01070.hp1 HG01071.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0221 a0006c0006t0002g0222 |
2 | 386 | 0.0052 | 0 | c.497 others(3): Show |
p.Arg others(6): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/3 | 1526/3770 | 497/1401 | 166/466 | chr8 | TogoVar | |||
ADRA1B_chr5_159911482_159978012 | 159917138 | C | T | missense_variant | MODERATE | HG02280.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0013 | 1 | 382 | 0.0026 | 0 | c.233 others(3): Show |
p.Thr others(5): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/2 | 657/2507 | 233/1563 | 78/520 | chr5 | TogoVar | |||
ADRA1B_chr5_159911482_159978012 | 159972314 | C | G | missense_variant | MODERATE | HG02109.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0046 | 1 | 382 | 0.0026 | 0 | c.138 others(4): Show |
p.Pro others(6): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 2/2 | 1809/2507 | 1385/1563 | 462/520 | chr5 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4221731 | C | T | missense_variant | MODERATE | HG03491.hp1 HG03492.hp1 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0046 | 2 | 450 | 0.0044 | 0 | c.151 others(4): Show |
p.Arg others(6): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 2/2 | 1841/2942 | 1511/1719 | 504/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4221744 | G | C | missense_variant | MODERATE | HG00558.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0263 | 1 | 450 | 0.0022 | 0 | c.149 others(4): Show |
p.Leu others(6): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 2/2 | 1828/2942 | 1498/1719 | 500/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4221954 | G | A | missense_variant | MODERATE | NA18957.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0268 | 1 | 450 | 0.0022 | 0 | c.128 others(4): Show |
p.Leu others(6): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 2/2 | 1618/2942 | 1288/1719 | 430/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4248009 | C | G | missense_variant | MODERATE | HG01934.hp2 | a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0058 | 1 | 450 | 0.0022 | 0 | c.949 others(3): Show |
p.Gly others(6): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/2 | 1279/2942 | 949/1719 | 317/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4248020 | G | C | missense_variant | MODERATE | HG01884.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0245 | 1 | 450 | 0.0022 | 0 | c.938 others(3): Show |
p.Thr others(6): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/2 | 1268/2942 | 938/1719 | 313/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4248728 | G | T | missense_variant | MODERATE | HG01069.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0056 | 1 | 450 | 0.0022 | 0 | c.230 others(3): Show |
p.Ala others(5): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/2 | 560/2942 | 230/1719 | 77/572 | chr20 | TogoVar | |||
ADRA1D_chr20_4215630_4254287 | 4248867 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0004a0002c0011others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0043 a0002c0002t0001g0254 a0002c0002t0001g0262 others(82): Show |
104 | 450 | 0.2311 | 0 | c.91A others(2): Show |
p.Ser others(5): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/2 | 421/2942 | 91/1719 | 31/572 | chr20 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111078115 | C | G | missense_variant | MODERATE | HG00323.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0000 | 1 | 430 | 0.0023 | 0 | c.119 others(3): Show |
p.Ala others(5): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 1087/3879 | 119/1398 | 40/465 | chr10 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111078748 | C | G | missense_variant | MODERATE | HG02698.hp2 HG03942.hp1 HG03942.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0000 | 4 | 430 | 0.0093 | 0 | c.752 others(3): Show |
p.Pro others(6): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 1720/3879 | 752/1398 | 251/465 | chr10 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111078794 | C | G | missense_variant | MODERATE | HG01891.hp2 HG02280.hp1 HG02486.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 6 | 430 | 0.0140 | 0 | c.798 others(3): Show |
p.Asn others(6): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 1766/3879 | 798/1398 | 266/465 | chr10 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111078964 | C | A | missense_variant | MODERATE | HG00558.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0000 | 1 | 430 | 0.0023 | 0 | c.968 others(3): Show |
p.Pro others(6): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 1936/3879 | 968/1398 | 323/465 | chr10 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111079317 | T | A | missense_variant | MODERATE | NA18989.hp2 | a0006 | a0006c0008 | a0006c0008t0027 | a0006c0008t0027g0000 | 1 | 430 | 0.0023 | 0 | c.132 others(4): Show |
p.Tyr others(6): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 2289/3879 | 1321/1398 | 441/465 | chr10 | TogoVar | |||
ADRA2A_chr10_111072029_111085907 | 111079320 | A | C | missense_variant | MODERATE | NA18989.hp2 | a0006 | a0006c0008 | a0006c0008t0027 | a0006c0008t0027g0000 | 1 | 430 | 0.0023 | 0 | c.132 others(4): Show |
p.Thr others(6): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1/1 | 2292/3879 | 1324/1398 | 442/465 | chr10 | TogoVar | |||
ADRA2B_chr2_96107876_96121571 | 96114847 | G | A | missense_variant | MODERATE | NA18950.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0000 | 1 | 388 | 0.0026 | 0 | c.130 others(4): Show |
p.Arg others(6): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 1725/3696 | 1303/1353 | 435/450 | chr2 | TogoVar | |||
ADRA2B_chr2_96107876_96121571 | 96115059 | G | C | missense_variant | MODERATE | NA19068.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0000 | 1 | 388 | 0.0026 | 0 | c.109 others(4): Show |
p.Thr others(6): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 1513/3696 | 1091/1353 | 364/450 | chr2 | TogoVar | |||
ADRA2B_chr2_96107876_96121571 | 96115131 | C | T | missense_variant | MODERATE | NA19070.hp1 | a0006 | a0006c0010 | a0006c0010t0005 | a0006c0010t0005g0000 | 1 | 388 | 0.0026 | 0 | c.101 others(4): Show |
p.Arg others(6): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 1441/3696 | 1019/1353 | 340/450 | chr2 | TogoVar | |||
ADRA2B_chr2_96107876_96121571 | 96115671 | C | T | missense_variant | MODERATE | HG01943.hp2 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0000 | 1 | 388 | 0.0026 | 0 | c.479 others(3): Show |
p.Gly others(6): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 901/3696 | 479/1353 | 160/450 | chr2 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3766867 | C | G | missense_variant | MODERATE | HG02083.hp2 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0000 | 1 | 418 | 0.0024 | 0 | c.261 others(3): Show |
p.Asn others(5): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 483/2142 | 261/1389 | 87/462 | chr4 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3767078 | G | A | missense_variant | MODERATE | NA18970.hp2 NA19003.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0000 | 2 | 418 | 0.0048 | 0 | c.472 others(3): Show |
p.Glu others(6): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 694/2142 | 472/1389 | 158/462 | chr4 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3767199 | C | A | missense_variant | MODERATE | HG01433.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0000 | 1 | 418 | 0.0024 | 0 | c.593 others(3): Show |
p.Ala others(6): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 815/2142 | 593/1389 | 198/462 | chr4 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3767366 | G | C | missense_variant | MODERATE | NA19240.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0000 | 1 | 418 | 0.0024 | 0 | c.760 others(3): Show |
p.Asp others(6): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 982/2142 | 760/1389 | 254/462 | chr4 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3767373 | C | T | missense_variant | MODERATE | HG02572.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0000 | 1 | 418 | 0.0024 | 0 | c.767 others(3): Show |
p.Ala others(6): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 989/2142 | 767/1389 | 256/462 | chr4 | TogoVar | |||
ADRA2C_chr4_3761385_3773526 | 3767621 | C | T | missense_variant | MODERATE | HG02083.hp2 HG02129.hp1 |
a0002a0005 | a0002c0010a0005c0016 | a0002c0010t0002a0005c0016t0002 | a0002c0010t0002g0000 a0005c0016t0002g0000 |
2 | 418 | 0.0048 | 0 | c.101 others(4): Show |
p.Pro others(6): Show |
ADRA2C | ENSG00000184160.8 | transcript | ENST00000330055.7 | protein_coding | 1/1 | 1237/2142 | 1015/1389 | 339/462 | chr4 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114044146 | T | C | missense_variant | MODERATE | HG02717.hp2 | a0008 | a0008c0009 | a0008c0009t0013 | a0008c0009t0013g0000 | 1 | 392 | 0.0026 | 0 | c.14T others(2): Show |
p.Val others(4): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 281/3039 | 14/1434 | 5/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114044277 | A | G | missense_variant | MODERATE | HG00323.hp1 HG00544.hp1 HG00642.hp1 others(77): Show |
a0003a0005a0008 | a0003c0003a0005c0008a0008c0009 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(4): Show | a0003c0003t0001g0000 a0003c0003t0002g0000 a0003c0003t0005g0000 others(4): Show |
80 | 392 | 0.2041 | 0 | c.145 others(3): Show |
p.Ser others(5): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 412/3039 | 145/1434 | 49/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114044940 | G | A | missense_variant | MODERATE | HG01891.hp2 HG02258.hp2 HG02895.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0000 | 5 | 392 | 0.0128 | 0 | c.808 others(3): Show |
p.Ala others(6): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 1075/3039 | 808/1434 | 270/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114044997 | C | T | missense_variant | MODERATE | HG02602.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0000 | 1 | 392 | 0.0026 | 0 | c.865 others(3): Show |
p.Pro others(6): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 1132/3039 | 865/1434 | 289/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114045224 | G | C | missense_variant | MODERATE | HG00408.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0000 | 1 | 392 | 0.0026 | 0 | c.109 others(4): Show |
p.Trp others(6): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 1359/3039 | 1092/1434 | 364/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114045297 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(269): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 others(13): Show |
272 | 392 | 0.6939 | 0 | c.116 others(4): Show |
p.Gly others(6): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 1432/3039 | 1165/1434 | 389/477 | chr10 | TogoVar | |||
ADRB1_chr10_114038866_114051904 | 114045541 | G | C | missense_variant | MODERATE | HG01109.hp2 HG02630.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0000 | 2 | 392 | 0.0051 | 0 | c.140 others(4): Show |
p.Gly others(6): Show |
ADRB1 | ENSG00000043591.6 | transcript | ENST00000369295.4 | protein_coding | 1/1 | 1676/3039 | 1409/1434 | 470/477 | chr10 | TogoVar | |||
ADRB2_chr5_148821611_148833623 | 148826877 | G | A | missense_variant | MODERATE | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(200): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(21): Show | a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0002t0005g0000 others(21): Show |
203 | 452 | 0.4491 | 0 | c.46G others(2): Show |
p.Gly others(5): Show |
ADRB2 | ENSG00000169252.6 | transcript | ENST00000305988.6 | protein_coding | 1/1 | 267/2013 | 46/1242 | 16/413 | chr5 | TogoVar | |||
ADRB2_chr5_148821611_148833623 | 148826910 | G | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(376): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0004a0001c0005others(15): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(42): Show | a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0002t0005g0000 others(42): Show |
379 | 452 | 0.8385 | 0 | c.79G others(2): Show |
p.Glu others(5): Show |
ADRB2 | ENSG00000169252.6 | transcript | ENST00000305988.6 | protein_coding | 1/1 | 300/2013 | 79/1242 | 27/413 | chr5 | TogoVar | |||
ADRB2_chr5_148821611_148833623 | 148827322 | C | T | missense_variant | MODERATE | HG00099.hp2 NA20805.hp1 |
a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0000 | 2 | 452 | 0.0044 | 0 | c.491 others(3): Show |
p.Thr others(6): Show |
ADRB2 | ENSG00000169252.6 | transcript | ENST00000305988.6 | protein_coding | 1/1 | 712/2013 | 491/1242 | 164/413 | chr5 | TogoVar |