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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM29_chr4_174913358_174983180 | 174977843 | T | C | missense_variant | MODERATE | HG00639.hp2 HG01981.hp1 HG02818.hp2 |
a0006a0008 | a0006c0010a0008c0014 | a0006c0010t0003a0008c0014t0001 | a0006c0010t0003g0057 a0006c0010t0003g0067 a0008c0014t0001g0137 |
3 | 328 | 0.0091 | 0 | c.231 others(4): Show |
p.Met others(6): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 5/5 | 2988/3325 | 2318/2463 | 773/820 | chr4 | TogoVar | |||
ADAM29_chr4_174913358_174983180 | 174977870 | T | C | missense_variant | MODERATE | HG00639.hp1 HG00741.hp1 HG01109.hp1 others(23): Show |
a0004 | a0004c0004a0004c0015 | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(4): Show | a0004c0004t0001g0202 a0004c0004t0002g0027 a0004c0004t0002g0028 others(20): Show |
26 | 328 | 0.0793 | 0 | c.234 others(4): Show |
p.Met others(6): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 5/5 | 3015/3325 | 2345/2463 | 782/820 | chr4 | TogoVar | |||
ADAM29_chr4_174913358_174983180 | 174977962 | A | G | missense_variant | MODERATE | HG02630.hp2 HG02809.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0222 a0005c0007t0002g0224 |
2 | 328 | 0.0061 | 0 | c.243 others(4): Show |
p.Ser others(6): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 5/5 | 3107/3325 | 2437/2463 | 813/820 | chr4 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39746584 | G | C | missense_variant | MODERATE | HG01884.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0289 | 1 | 328 | 0.0030 | 0 | c.206 others(4): Show |
p.Pro others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 19/21 | 2104/2610 | 2062/2208 | 688/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39749416 | G | A | missense_variant | MODERATE | HG01070.hp2 HG02040.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0010 | 2 | 328 | 0.0061 | 0 | c.191 others(4): Show |
p.Ala others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 18/21 | 1952/2610 | 1910/2208 | 637/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39755764 | C | A | missense_variant | MODERATE | HG01891.hp1 HG02615.hp2 |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0008 | 2 | 328 | 0.0061 | 0 | c.176 others(4): Show |
p.Met others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 16/21 | 1803/2610 | 1761/2208 | 587/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39755887 | T | C | missense_variant | MODERATE | NA19004.hp2 | a0013 | a0013c0017 | a0013c0017t0001 | a0013c0017t0001g0123 | 1 | 328 | 0.0030 | 0 | c.163 others(4): Show |
p.Ile others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 16/21 | 1680/2610 | 1638/2208 | 546/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39767202 | A | G | missense_variant | MODERATE | HG01515.hp2 HG01517.hp1 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0009 | 2 | 328 | 0.0061 | 0 | c.126 others(4): Show |
p.Phe others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 13/21 | 1304/2610 | 1262/2208 | 421/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39769403 | C | T | missense_variant | MODERATE | HG01891.hp1 HG02615.hp2 |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0008 | 2 | 328 | 0.0061 | 0 | c.120 others(4): Show |
p.Gly others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 12/21 | 1243/2610 | 1201/2208 | 401/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39769462 | A | G | missense_variant | MODERATE | NA18954.hp1 NA18998.hp2 NA19007.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 a0003c0003t0001g0171 a0003c0003t0001g0184 |
4 | 328 | 0.0122 | 0 | c.114 others(4): Show |
p.Phe others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 12/21 | 1184/2610 | 1142/2208 | 381/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39788707 | C | T | missense_variant | MODERATE | HG02886.hp1 HG03486.hp1 |
a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0162 a0007c0004t0001g0163 |
2 | 328 | 0.0061 | 0 | c.604 others(3): Show |
p.Ala others(6): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 8/21 | 646/2610 | 604/2208 | 202/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39837167 | C | T | missense_variant | MODERATE | NA18999.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0037 | 1 | 328 | 0.0030 | 0 | c.101 others(3): Show |
p.Arg others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/21 | 143/2610 | 101/2208 | 34/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39838152 | C | T | missense_variant | MODERATE | NA18961.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0024 | 1 | 328 | 0.0030 | 0 | c.34G others(2): Show |
p.Gly others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 1/21 | 76/2610 | 34/2208 | 12/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39838158 | C | A | missense_variant | MODERATE | HG02572.hp2 HG02809.hp2 HG03130.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 others(4): Show |
7 | 328 | 0.0213 | 0 | c.28G others(2): Show |
p.Gly others(5): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 1/21 | 70/2610 | 28/2208 | 10/735 | chr8 | TogoVar | |||
ADAM2_chr8_39738735_39843227 | 39838168 | A | C | missense_variant | MODERATE | NA18992.hp1 NA19066.hp1 |
a0008 | a0008c0010a0008c0011 | a0008c0010t0001a0008c0011t0001 | a0008c0010t0001g0023 a0008c0011t0001g0022 |
2 | 328 | 0.0061 | 0 | c.18T others(2): Show |
p.Phe others(4): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 1/21 | 60/2610 | 18/2208 | 6/735 | chr8 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119893972 | T | C | missense_variant | MODERATE | HG02258.hp1 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0000 | 1 | 386 | 0.0026 | 0 | c.236 others(4): Show |
p.Lys others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 2544/2983 | 2365/2373 | 789/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119894128 | T | C | missense_variant | MODERATE | HG00735.hp1 HG01109.hp1 HG01175.hp1 others(50): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0007a0004c0010others(2): Show | a0002c0002t0002a0002c0007t0002a0004c0010t0002others(2): Show | a0002c0002t0002g0000 a0002c0007t0002g0000 a0004c0010t0002g0000 others(2): Show |
53 | 386 | 0.1373 | 0 | c.220 others(4): Show |
p.Thr others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 2388/2983 | 2209/2373 | 737/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119894856 | C | A | missense_variant | MODERATE | NA18959.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0000 | 1 | 386 | 0.0026 | 0 | c.148 others(4): Show |
p.Arg others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 1660/2983 | 1481/2373 | 494/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119895133 | A | G | missense_variant | MODERATE | NA19059.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0000 | 1 | 386 | 0.0026 | 0 | c.120 others(4): Show |
p.Cys others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 1383/2983 | 1204/2373 | 402/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119895186 | G | A | missense_variant | MODERATE | HG00735.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0000 | 1 | 386 | 0.0026 | 0 | c.115 others(4): Show |
p.Ser others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 1330/2983 | 1151/2373 | 384/790 | chr1 | TogoVar | |||
ADAM30_chr1_119888533_119901515 | 119895261 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(65): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0007a0003c0004others(4): Show | a0002c0002t0002a0002c0007t0002a0003c0004t0001others(5): Show | a0002c0002t0002g0000 a0002c0007t0002g0000 a0003c0004t0001g0000 others(5): Show |
68 | 386 | 0.1762 | 0 | c.107 others(4): Show |
p.Leu others(6): Show |
ADAM30 | ENSG00000134249.7 | transcript | ENST00000369400.2 | protein_coding | 1/1 | 1255/2983 | 1076/2373 | 359/790 | chr1 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39165073 | A | C | missense_variant | MODERATE | HG01978.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0106 | 1 | 256 | 0.0039 | 0 | c.710 others(3): Show |
p.Glu others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 9/25 | 752/2524 | 710/2364 | 237/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39169989 | G | A | missense_variant | MODERATE | HG02055.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0077 | 1 | 256 | 0.0039 | 0 | c.907 others(3): Show |
p.Val others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/25 | 949/2524 | 907/2364 | 303/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39223113 | C | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(236): Show |
241 | 256 | 0.9414 | 0 | c.140 others(4): Show |
p.Thr others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 14/25 | 1442/2524 | 1400/2364 | 467/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39233940 | G | A | missense_variant | MODERATE | HG00642.hp2 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0119 | 1 | 256 | 0.0039 | 0 | c.167 others(4): Show |
p.Arg others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 16/25 | 1718/2524 | 1676/2364 | 559/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39234027 | G | A | missense_variant | MODERATE | HG02559.hp1 HG03516.hp1 NA18522.hp2 |
a0006 | a0006c0008 | a0006c0008t0001a0006c0008t0002 | a0006c0008t0001g0068 a0006c0008t0001g0069 a0006c0008t0002g0132 |
3 | 256 | 0.0117 | 0 | c.176 others(4): Show |
p.Arg others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 16/25 | 1805/2524 | 1763/2364 | 588/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39254514 | T | C | missense_variant others(1): Show |
MODERATE | HG02257.hp2 HG02258.hp2 HG02615.hp2 others(15): Show |
a0003a0004a0007others(2): Show | a0003c0004a0004c0007a0007c0009others(2): Show | a0003c0004t0001a0003c0004t0002a0004c0007t0001others(3): Show | a0003c0004t0001g0134 a0003c0004t0001g0135 a0003c0004t0001g0136 others(15): Show |
18 | 256 | 0.0703 | 0 | c.200 others(4): Show |
p.Met others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 18/25 | 2045/2524 | 2003/2364 | 668/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39275845 | G | A | missense_variant | MODERATE | HG02723.hp2 HG02809.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0152 a0007c0009t0001g0245 |
2 | 256 | 0.0078 | 0 | c.225 others(4): Show |
p.Ser others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 22/25 | 2300/2524 | 2258/2364 | 753/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39283601 | C | A | missense_variant | MODERATE | HG00408.hp2 HG00621.hp2 HG01192.hp2 others(38): Show |
a0002a0005a0006others(3): Show | a0002c0003a0002c0005a0005c0006others(4): Show | a0002c0003t0001a0002c0003t0002a0002c0005t0001others(7): Show | a0002c0003t0001g0008 a0002c0003t0001g0151 a0002c0003t0001g0157 others(38): Show |
41 | 256 | 0.1602 | 0 | c.233 others(4): Show |
p.Asp others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 24/25 | 2376/2524 | 2334/2364 | 778/787 | chr8 | TogoVar | |||
ADAM32_chr8_39102734_39289917 | 39284793 | T | A | missense_variant others(1): Show |
MODERATE | HG02615.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0138 | 1 | 256 | 0.0039 | 0 | c.235 others(4): Show |
p.Ser others(6): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 25/25 | 2400/2524 | 2358/2364 | 786/787 | chr8 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3669346 | C | A | missense_variant | MODERATE | NA19076.hp2 | a0024 | a0024c0045 | a0024c0045t0034 | a0024c0045t0034g0348 | 1 | 460 | 0.0022 | 0 | c.235 others(4): Show |
p.Ser others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 21/22 | 2363/3436 | 2357/2442 | 786/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3669558 | G | A | missense_variant | MODERATE | HG00323.hp2 HG00673.hp2 HG01099.hp1 others(58): Show |
a0002a0007a0010others(1): Show | a0002c0002a0002c0008a0002c0018others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(12): Show | a0002c0002t0001g0043 a0002c0002t0001g0114 a0002c0002t0001g0182 others(51): Show |
61 | 460 | 0.1326 | 0 | c.232 others(4): Show |
p.Pro others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 20/22 | 2326/3436 | 2320/2442 | 774/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3669587 | A | G | missense_variant | MODERATE | HG00323.hp2 HG00673.hp2 HG01099.hp1 others(51): Show |
a0002a0010a0016others(2): Show | a0002c0002a0002c0008a0002c0018others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0043 a0002c0002t0001g0114 a0002c0002t0001g0182 others(45): Show |
54 | 460 | 0.1174 | 0 | c.229 others(4): Show |
p.Met others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 20/22 | 2297/3436 | 2291/2442 | 764/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3671022 | C | A | missense_variant | MODERATE | NA18981.hp2 | a0021 | a0021c0037 | a0021c0037t0007 | a0021c0037t0007g0110 | 1 | 460 | 0.0022 | 0 | c.222 others(4): Show |
p.Asp others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 19/22 | 2230/3436 | 2224/2442 | 742/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3671118 | C | T | missense_variant | MODERATE | HG00323.hp1 HG00642.hp2 HG01069.hp1 others(17): Show |
a0004 | a0004c0005a0004c0017 | a0004c0005t0001a0004c0005t0002a0004c0005t0004others(2): Show | a0004c0005t0001g0157 a0004c0005t0002g0292 a0004c0005t0004g0009 others(11): Show |
20 | 460 | 0.0435 | 0 | c.212 others(4): Show |
p.Val others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 19/22 | 2134/3436 | 2128/2442 | 710/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3671269 | C | G | missense_variant | MODERATE | NA19076.hp2 | a0024 | a0024c0045 | a0024c0045t0034 | a0024c0045t0034g0348 | 1 | 460 | 0.0022 | 0 | c.206 others(4): Show |
p.Gly others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 18/22 | 2066/3436 | 2060/2442 | 687/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3671651 | A | T | missense_variant | MODERATE | HG00673.hp2 NA18950.hp1 NA19087.hp1 |
a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0074 a0010c0014t0002g0347 a0010c0014t0002g0365 |
3 | 460 | 0.0065 | 0 | c.183 others(4): Show |
p.Leu others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 16/22 | 1841/3436 | 1835/2442 | 612/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3671718 | T | C | missense_variant | MODERATE | HG01109.hp1 HG02572.hp2 HG03453.hp1 |
a0011 | a0011c0016 | a0011c0016t0004 | a0011c0016t0004g0013 a0011c0016t0004g0042 |
3 | 460 | 0.0065 | 0 | c.176 others(4): Show |
p.Met others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 16/22 | 1774/3436 | 1768/2442 | 590/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672173 | G | A | missense_variant | MODERATE | HG01884.hp1 | a0014 | a0014c0040 | a0014c0040t0006 | a0014c0040t0006g0120 | 1 | 460 | 0.0022 | 0 | c.155 others(4): Show |
p.Pro others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 14/22 | 1564/3436 | 1558/2442 | 520/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672188 | A | G | missense_variant | MODERATE | HG02109.hp1 HG02258.hp1 HG03130.hp2 others(2): Show |
a0009 | a0009c0011 | a0009c0011t0005a0009c0011t0009 | a0009c0011t0005g0121 a0009c0011t0009g0023 a0009c0011t0009g0066 others(1): Show |
5 | 460 | 0.0109 | 0 | c.154 others(4): Show |
p.Trp others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 14/22 | 1549/3436 | 1543/2442 | 515/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672548 | C | T | missense_variant | MODERATE | HG03471.hp2 | a0017 | a0017c0032 | a0017c0032t0005 | a0017c0032t0005g0213 | 1 | 460 | 0.0022 | 0 | c.139 others(4): Show |
p.Val others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/22 | 1396/3436 | 1390/2442 | 464/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672615 | G | C | missense_variant | MODERATE | HG03486.hp1 | a0018 | a0018c0028 | a0018c0028t0005 | a0018c0028t0005g0163 | 1 | 460 | 0.0022 | 0 | c.132 others(4): Show |
p.Asp others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 13/22 | 1329/3436 | 1323/2442 | 441/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672731 | C | G | missense_variant | MODERATE | NA19087.hp2 | a0025 | a0025c0031 | a0025c0031t0004 | a0025c0031t0004g0297 | 1 | 460 | 0.0022 | 0 | c.130 others(4): Show |
p.Gly others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 12/22 | 1307/3436 | 1301/2442 | 434/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3672848 | G | A | missense_variant | MODERATE | HG01516.hp2 | a0013 | a0013c0036 | a0013c0036t0001 | a0013c0036t0001g0199 | 1 | 460 | 0.0022 | 0 | c.118 others(4): Show |
p.Ala others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 12/22 | 1190/3436 | 1184/2442 | 395/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3673394 | C | A | missense_variant | MODERATE | HG03195.hp2 | a0016 | a0016c0044 | a0016c0044t0004 | a0016c0044t0004g0129 | 1 | 460 | 0.0022 | 0 | c.109 others(4): Show |
p.Ala others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 11/22 | 1099/3436 | 1093/2442 | 365/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3673403 | C | A | missense_variant | MODERATE | NA18978.hp2 | a0020 | a0020c0038 | a0020c0038t0002 | a0020c0038t0002g0318 | 1 | 460 | 0.0022 | 0 | c.108 others(4): Show |
p.Val others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 11/22 | 1090/3436 | 1084/2442 | 362/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3673481 | G | A | missense_variant | MODERATE | HG01891.hp2 HG02055.hp2 HG02451.hp2 others(16): Show |
a0006a0015 | a0006c0004a0015c0029 | a0006c0004t0002a0006c0004t0010a0006c0004t0011others(2): Show | a0006c0004t0002g0021 a0006c0004t0002g0104 a0006c0004t0002g0105 others(15): Show |
19 | 460 | 0.0413 | 0 | c.100 others(4): Show |
p.Pro others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 11/22 | 1012/3436 | 1006/2442 | 336/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3674572 | T | C | missense_variant | MODERATE | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(32): Show |
a0003a0008a0014others(4): Show | a0003c0003a0003c0039a0003c0042others(9): Show | a0003c0003t0007a0003c0003t0008a0003c0003t0032others(12): Show | a0003c0003t0007g0058 a0003c0003t0007g0095 a0003c0003t0007g0096 others(27): Show |
35 | 460 | 0.0761 | 0 | c.532 others(3): Show |
p.Thr others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 6/22 | 538/3436 | 532/2442 | 178/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3675034 | T | C | missense_variant | MODERATE | HG02145.hp1 NA18906.hp1 |
a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0124 a0012c0022t0001g0307 |
2 | 460 | 0.0043 | 0 | c.326 others(3): Show |
p.Asn others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 4/22 | 332/3436 | 326/2442 | 109/813 | chr20 | TogoVar | |||
ADAM33_chr20_3662975_3687010 | 3675053 | G | C | missense_variant | MODERATE | NA19076.hp2 | a0024 | a0024c0045 | a0024c0045t0034 | a0024c0045t0034g0348 | 1 | 460 | 0.0022 | 0 | c.307 others(3): Show |
p.Pro others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 4/22 | 313/3436 | 307/2442 | 103/813 | chr20 | TogoVar |