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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL1_chr9_18469153_18915950 | 18753480 | C | T | missense_variant | MODERATE | HG02300.hp2 | a0016 | a0016c0072 | a0016c0072t0002 | a0016c0072t0002g0040 | 1 | 216 | 0.0046 | 0 | c.218 others(4): Show |
p.Pro others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/29 | 2269/7771 | 2189/5289 | 730/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18775812 | C | A | missense_variant | MODERATE | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(90): Show |
a0002a0003a0004others(11): Show | a0002c0001a0002c0004a0002c0016others(35): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(63): Show | a0002c0001t0001g0023 a0002c0001t0001g0160 a0002c0001t0001g0177 others(90): Show |
93 | 216 | 0.4306 | 0 | c.246 others(4): Show |
p.Leu others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 18/29 | 2547/7771 | 2467/5289 | 823/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18776786 | G | A | missense_variant | MODERATE | HG01256.hp2 HG01358.hp2 HG01517.hp1 others(2): Show |
a0006 | a0006c0014a0006c0061a0006c0073 | a0006c0014t0003a0006c0061t0004a0006c0073t0008 | a0006c0014t0003g0026 a0006c0014t0003g0027 a0006c0014t0003g0144 others(2): Show |
5 | 216 | 0.0231 | 0 | c.255 others(4): Show |
p.Gly others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 2637/7771 | 2557/5289 | 853/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18776973 | G | A | missense_variant | MODERATE | HG02040.hp2 NA18944.hp1 |
a0014a0028 | a0014c0046a0028c0062 | a0014c0046t0002a0028c0062t0002 | a0014c0046t0002g0202 a0028c0062t0002g0087 |
2 | 216 | 0.0093 | 0 | c.274 others(4): Show |
p.Gly others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 2824/7771 | 2744/5289 | 915/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18776999 | G | A | missense_variant | MODERATE | HG01243.hp1 | a0011 | a0011c0076 | a0011c0076t0027 | a0011c0076t0027g0072 | 1 | 216 | 0.0046 | 0 | c.277 others(4): Show |
p.Val others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 2850/7771 | 2770/5289 | 924/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777177 | G | C | missense_variant | MODERATE | HG00597.hp1 | a0010 | a0010c0063 | a0010c0063t0017 | a0010c0063t0017g0106 | 1 | 216 | 0.0046 | 0 | c.294 others(4): Show |
p.Gly others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3028/7771 | 2948/5289 | 983/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777198 | A | C | missense_variant | MODERATE | HG00621.hp1 HG01255.hp2 HG01256.hp1 others(18): Show |
a0003a0009a0012others(5): Show | a0003c0011a0003c0012a0003c0019others(8): Show | a0003c0011t0001a0003c0011t0002a0003c0011t0007others(14): Show | a0003c0011t0001g0114 a0003c0011t0002g0166 a0003c0011t0007g0183 others(18): Show |
21 | 216 | 0.0972 | 0 | c.296 others(4): Show |
p.Glu others(6): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3049/7771 | 2969/5289 | 990/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777270 | C | T | missense_variant | MODERATE | HG01256.hp1 HG03490.hp1 HG03492.hp1 others(1): Show |
a0009a0013a0025 | a0009c0025a0013c0067a0025c0066 | a0009c0025t0001a0013c0067t0002a0025c0066t0001 | a0009c0025t0001g0041 a0009c0025t0001g0096 a0013c0067t0002g0079 others(1): Show |
4 | 216 | 0.0185 | 0 | c.304 others(4): Show |
p.Ala others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3121/7771 | 3041/5289 | 1014/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777306 | C | T | missense_variant | MODERATE | HG01256.hp1 HG04115.hp2 |
a0013a0025 | a0013c0067a0025c0066 | a0013c0067t0002a0025c0066t0001 | a0013c0067t0002g0079 a0025c0066t0001g0053 |
2 | 216 | 0.0093 | 0 | c.307 others(4): Show |
p.Ser others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3157/7771 | 3077/5289 | 1026/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777335 | G | A | missense_variant | MODERATE | HG04228.hp1 | a0026 | a0026c0038 | a0026c0038t0016 | a0026c0038t0016g0207 | 1 | 216 | 0.0046 | 0 | c.310 others(4): Show |
p.Gly others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3186/7771 | 3106/5289 | 1036/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18777857 | C | A | missense_variant | MODERATE | HG03098.hp2 | a0020 | a0020c0081 | a0020c0081t0003 | a0020c0081t0003g0002 | 1 | 216 | 0.0046 | 0 | c.362 others(4): Show |
p.Pro others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/29 | 3708/7771 | 3628/5289 | 1210/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18826313 | A | G | missense_variant | MODERATE | HG02040.hp2 | a0014 | a0014c0046 | a0014c0046t0002 | a0014c0046t0002g0202 | 1 | 216 | 0.0046 | 0 | c.396 others(4): Show |
p.Arg others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/29 | 4044/7771 | 3964/5289 | 1322/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18829930 | C | G | missense_variant | MODERATE | HG02129.hp1 | a0015 | a0015c0065 | a0015c0065t0034 | a0015c0065t0034g0132 | 1 | 216 | 0.0046 | 0 | c.420 others(4): Show |
p.Pro others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/29 | 4282/7771 | 4202/5289 | 1401/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18829954 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00558.hp2 HG00733.hp1 others(13): Show |
a0004a0005a0013others(1): Show | a0004c0009a0004c0015a0004c0048others(7): Show | a0004c0009t0002a0004c0009t0003a0004c0009t0009others(11): Show | a0004c0009t0002g0030 a0004c0009t0002g0094 a0004c0009t0002g0218 others(13): Show |
16 | 216 | 0.0741 | 0 | c.422 others(4): Show |
p.Asp others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/29 | 4306/7771 | 4226/5289 | 1409/1762 | chr9 | TogoVar | |||
ADAMTSL1_chr9_18469153_18915950 | 18892522 | G | A | missense_variant | MODERATE | HG03516.hp2 | a0024 | a0024c0041 | a0024c0041t0033 | a0024c0041t0033g0013 | 1 | 216 | 0.0046 | 0 | c.477 others(4): Show |
p.Ala others(7): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/29 | 4857/7771 | 4777/5289 | 1593/1762 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133536800 | A | G | missense_variant others(1): Show |
MODERATE | HG02647.hp2 HG02723.hp2 |
a0004 | a0004c0036a0004c0037 | a0004c0036t0001a0004c0037t0001 | a0004c0036t0001g0113 a0004c0037t0001g0114 |
2 | 150 | 0.0133 | 0 | c.88A others(2): Show |
p.Thr others(5): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 2/19 | 452/3875 | 88/2856 | 30/951 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133538387 | C | T | missense_variant | MODERATE | HG01975.hp1 | a0007 | a0007c0034 | a0007c0034t0003 | a0007c0034t0003g0037 | 1 | 150 | 0.0067 | 0 | c.272 others(3): Show |
p.Thr others(5): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 4/19 | 636/3875 | 272/2856 | 91/951 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133554507 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(39): Show |
a0002a0006a0007 | a0002c0002a0002c0004a0002c0009others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(8): Show | a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0028 others(39): Show |
42 | 150 | 0.2800 | 0 | c.109 others(4): Show |
p.Val others(6): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 10/19 | 1454/3875 | 1090/2856 | 364/951 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133554639 | G | A | missense_variant | MODERATE | HG00140.hp1 | a0005 | a0005c0030 | a0005c0030t0013 | a0005c0030t0013g0083 | 1 | 150 | 0.0067 | 0 | c.122 others(4): Show |
p.Glu others(6): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 10/19 | 1586/3875 | 1222/2856 | 408/951 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133568440 | G | A | missense_variant | MODERATE | HG01257.hp2 HG04228.hp2 |
a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0034 a0003c0014t0002g0098 |
2 | 150 | 0.0133 | 0 | c.204 others(4): Show |
p.Arg others(6): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 14/19 | 2406/3875 | 2042/2856 | 681/951 | chr9 | TogoVar | |||
ADAMTSL2_chr9_133529704_133580519 | 133568482 | C | A | missense_variant | MODERATE | HG00609.hp1 | a0006 | a0006c0017 | a0006c0017t0002 | a0006c0017t0002g0031 | 1 | 150 | 0.0067 | 0 | c.208 others(4): Show |
p.Ser others(6): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 14/19 | 2448/3875 | 2084/2856 | 695/951 | chr9 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83655774 | A | T | missense_variant | MODERATE | HG02970.hp2 | a0035 | a0035c0065 | a0035c0065t0008 | a0035c0065t0008g0036 | 1 | 272 | 0.0037 | 0 | c.13A others(2): Show |
p.Thr others(4): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/30 | 200/7299 | 13/5076 | 5/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83704495 | G | A | missense_variant | MODERATE | HG00408.hp1 HG02155.hp1 NA18948.hp2 others(1): Show |
a0012a0021 | a0012c0013a0021c0024 | a0012c0013t0001a0012c0013t0003a0021c0024t0001 | a0012c0013t0001g0199 a0012c0013t0003g0178 a0012c0013t0003g0184 others(1): Show |
4 | 272 | 0.0147 | 0 | c.176 others(3): Show |
p.Arg others(5): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/30 | 363/7299 | 176/5076 | 59/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83819856 | G | A | missense_variant | MODERATE | HG00597.hp1 | a0022 | a0022c0026 | a0022c0026t0001 | a0022c0026t0001g0185 | 1 | 272 | 0.0037 | 0 | c.409 others(3): Show |
p.Ala others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/30 | 596/7299 | 409/5076 | 137/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83819884 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(198): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0015a0001c0057others(40): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(47): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0053 others(198): Show |
201 | 272 | 0.7390 | 0 | c.437 others(3): Show |
p.His others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 6/30 | 624/7299 | 437/5076 | 146/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83838212 | A | G | missense_variant | MODERATE | HG01496.hp2 HG02145.hp1 HG02280.hp1 others(4): Show |
a0010a0026a0030others(1): Show | a0010c0012a0026c0063a0030c0062others(1): Show | a0010c0012t0001a0010c0012t0007a0026c0063t0011others(2): Show | a0010c0012t0001g0038 a0010c0012t0001g0130 a0010c0012t0001g0133 others(4): Show |
7 | 272 | 0.0257 | 0 | c.724 others(3): Show |
p.Lys others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 7/30 | 911/7299 | 724/5076 | 242/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83870805 | T | C | missense_variant | MODERATE | NA18977.hp2 | a0042 | a0042c0040 | a0042c0040t0001 | a0042c0040t0001g0219 | 1 | 272 | 0.0037 | 0 | c.806 others(3): Show |
p.Ile others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/30 | 993/7299 | 806/5076 | 269/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83870867 | C | G | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(217): Show |
a0001a0002a0004others(31): Show | a0001c0001a0001c0015a0001c0057others(52): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(61): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0053 others(217): Show |
220 | 272 | 0.8088 | 0 | c.868 others(3): Show |
p.Leu others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/30 | 1055/7299 | 868/5076 | 290/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83892869 | T | A | missense_variant | MODERATE | NA18940.hp2 | a0040 | a0040c0041 | a0040c0041t0001 | a0040c0041t0001g0078 | 1 | 272 | 0.0037 | 0 | c.144 others(4): Show |
p.Ile others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 13/30 | 1635/7299 | 1448/5076 | 483/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83913144 | C | G | missense_variant | MODERATE | HG00735.hp2 | a0023 | a0023c0061 | a0023c0061t0001 | a0023c0061t0001g0118 | 1 | 272 | 0.0037 | 0 | c.175 others(4): Show |
p.Gln others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/30 | 1940/7299 | 1753/5076 | 585/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83913243 | C | T | missense_variant | MODERATE | HG00408.hp1 | a0021 | a0021c0024 | a0021c0024t0001 | a0021c0024t0001g0191 | 1 | 272 | 0.0037 | 0 | c.185 others(4): Show |
p.Arg others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/30 | 2039/7299 | 1852/5076 | 618/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83913372 | G | T | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(200): Show |
a0001a0002a0004others(27): Show | a0001c0001a0001c0015a0001c0057others(47): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(53): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0053 others(200): Show |
203 | 272 | 0.7463 | 0 | c.198 others(4): Show |
p.Val others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 16/30 | 2168/7299 | 1981/5076 | 661/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83942615 | G | C | missense_variant | MODERATE | HG00280.hp1 HG01192.hp1 HG01258.hp2 others(3): Show |
a0009a0025 | a0009c0009a0025c0036 | a0009c0009t0001a0009c0009t0009a0009c0009t0010others(1): Show | a0009c0009t0001g0008 a0009c0009t0001g0047 a0009c0009t0001g0050 others(3): Show |
6 | 272 | 0.0221 | 0 | c.213 others(4): Show |
p.Gly others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 18/30 | 2324/7299 | 2137/5076 | 713/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83943065 | G | A | missense_variant | MODERATE | HG02723.hp2 | a0032 | a0032c0050 | a0032c0050t0001 | a0032c0050t0001g0003 | 1 | 272 | 0.0037 | 0 | c.247 others(4): Show |
p.Val others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 19/30 | 2660/7299 | 2473/5076 | 825/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83970557 | G | A | missense_variant | MODERATE | NA18985.hp1 NA19000.hp1 NA19077.hp1 |
a0018a0043 | a0018c0042a0018c0043a0043c0044 | a0018c0042t0001a0018c0043t0001a0043c0044t0002 | a0018c0042t0001g0189 a0018c0043t0001g0110 a0043c0044t0002g0109 |
3 | 272 | 0.0110 | 0 | c.256 others(4): Show |
p.Arg others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 20/30 | 2751/7299 | 2564/5076 | 855/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83970598 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(88): Show |
a0001a0007a0009others(10): Show | a0001c0001a0001c0015a0001c0057others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(24): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0053 others(88): Show |
91 | 272 | 0.3346 | 0 | c.260 others(4): Show |
p.Leu others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 20/30 | 2792/7299 | 2605/5076 | 869/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83982305 | G | A | missense_variant | MODERATE | HG01192.hp1 | a0025 | a0025c0036 | a0025c0036t0001 | a0025c0036t0001g0045 | 1 | 272 | 0.0037 | 0 | c.267 others(4): Show |
p.Glu others(6): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 21/30 | 2864/7299 | 2677/5076 | 893/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83983044 | G | A | missense_variant | MODERATE | HG02015.hp1 | a0027 | a0027c0030 | a0027c0030t0001 | a0027c0030t0001g0249 | 1 | 272 | 0.0037 | 0 | c.341 others(4): Show |
p.Arg others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 21/30 | 3603/7299 | 3416/5076 | 1139/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 83991148 | G | A | missense_variant | MODERATE | HG03139.hp2 | a0036 | a0036c0055 | a0036c0055t0001 | a0036c0055t0001g0231 | 1 | 272 | 0.0037 | 0 | c.390 others(4): Show |
p.Val others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 23/30 | 4094/7299 | 3907/5076 | 1303/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84014659 | C | T | missense_variant | MODERATE | HG03490.hp1 | a0038 | a0038c0029 | a0038c0029t0001 | a0038c0029t0001g0041 | 1 | 272 | 0.0037 | 0 | c.409 others(4): Show |
p.Thr others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 24/30 | 4278/7299 | 4091/5076 | 1364/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84014676 | A | G | missense_variant | MODERATE | HG02109.hp2 HG02257.hp1 HG02258.hp1 others(11): Show |
a0007a0033a0037 | a0007c0007a0007c0025a0007c0056others(3): Show | a0007c0007t0001a0007c0007t0013a0007c0025t0014others(4): Show | a0007c0007t0001g0001 a0007c0007t0001g0059 a0007c0007t0001g0060 others(11): Show |
14 | 272 | 0.0515 | 0 | c.410 others(4): Show |
p.Thr others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 24/30 | 4295/7299 | 4108/5076 | 1370/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84021548 | C | A | missense_variant | MODERATE | HG02602.hp2 | a0031 | a0031c0052 | a0031c0052t0002 | a0031c0052t0002g0168 | 1 | 272 | 0.0037 | 0 | c.441 others(4): Show |
p.Pro others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 26/30 | 4599/7299 | 4412/5076 | 1471/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84031351 | T | C | missense_variant | MODERATE | HG01243.hp1 HG02055.hp2 HG02615.hp1 |
a0014a0028 | a0014c0051a0014c0059a0028c0049 | a0014c0051t0001a0014c0059t0001a0028c0049t0001 | a0014c0051t0001g0113 a0014c0059t0001g0140 a0028c0049t0001g0131 |
3 | 272 | 0.0110 | 0 | c.467 others(4): Show |
p.Met others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 28/30 | 4860/7299 | 4673/5076 | 1558/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84036893 | C | G | missense_variant | MODERATE | HG01496.hp2 | a0026 | a0026c0063 | a0026c0063t0011 | a0026c0063t0011g0057 | 1 | 272 | 0.0037 | 0 | c.487 others(4): Show |
p.Ile others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 29/30 | 5062/7299 | 4875/5076 | 1625/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84037709 | C | T | missense_variant | MODERATE | HG00280.hp2 HG00639.hp1 HG01069.hp1 others(20): Show |
a0006a0011a0015others(4): Show | a0006c0005a0006c0046a0011c0014others(5): Show | a0006c0005t0002a0006c0046t0005a0011c0014t0002others(6): Show | a0006c0005t0002g0007 a0006c0005t0002g0011 a0006c0005t0002g0015 others(20): Show |
23 | 272 | 0.0846 | 0 | c.497 others(4): Show |
p.Thr others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 30/30 | 5166/7299 | 4979/5076 | 1660/1691 | chr15 | TogoVar | |||
ADAMTSL3_chr15_83649123_84044842 | 84037766 | G | A | missense_variant | MODERATE | HG02109.hp1 HG02922.hp2 |
a0029a0034 | a0029c0053a0034c0033 | a0029c0053t0001a0034c0033t0001 | a0029c0053t0001g0244 a0034c0033t0001g0240 |
2 | 272 | 0.0074 | 0 | c.503 others(4): Show |
p.Arg others(7): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 30/30 | 5223/7299 | 5036/5076 | 1679/1691 | chr15 | TogoVar | |||
ADAMTSL4_chr1_150544408_150565933 | 150552949 | G | A | missense_variant | MODERATE | HG00140.hp2 HG01243.hp1 HG02004.hp1 |
a0006 | a0006c0018a0006c0027 | a0006c0018t0001a0006c0027t0001 | a0006c0018t0001g0004 a0006c0027t0001g0004 |
3 | 438 | 0.0068 | 0 | c.130 others(3): Show |
p.Glu others(5): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 5/19 | 380/4212 | 130/3225 | 44/1074 | chr1 | TogoVar | |||
ADAMTSL4_chr1_150544408_150565933 | 150553112 | G | A | missense_variant | MODERATE | NA19030.hp1 | a0025 | a0025c0028 | a0025c0028t0001 | a0025c0028t0001g0046 | 1 | 438 | 0.0023 | 0 | c.293 others(3): Show |
p.Arg others(5): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 5/19 | 543/4212 | 293/3225 | 98/1074 | chr1 | TogoVar | |||
ADAMTSL4_chr1_150544408_150565933 | 150553437 | G | A | missense_variant | MODERATE | HG00741.hp2 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0003 | 1 | 438 | 0.0023 | 0 | c.446 others(3): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 696/4212 | 446/3225 | 149/1074 | chr1 | TogoVar | |||
ADAMTSL4_chr1_150544408_150565933 | 150553498 | C | G | missense_variant | MODERATE | HG03098.hp2 HG03225.hp1 |
a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0018 | 2 | 438 | 0.0046 | 0 | c.507 others(3): Show |
p.His others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 757/4212 | 507/3225 | 169/1074 | chr1 | TogoVar |