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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL2_chr9_133529704_133580519 | 133554639 | G | A | missense_variant | MODERATE | HG00140.hp1 | a0007 | a0007c0030 | a0007c0030t0013 | a0007c0030t0013g0083 | 1 | 152 | 0.0066 | 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 |
a0004 | a0004c0014 | a0004c0014t0002 | a0004c0014t0002g0034a0004c0014t0002g0098 | 2 | 152 | 0.0132 | 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 | 152 | 0.0066 | 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 | a0020 | a0020c0065 | a0020c0065t0008 | a0020c0065t0008g0036 | 1 | 274 | 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 |
a0011a0021 | a0011c0013a0021c0024 | a0011c0013t0001a0011c0013t0003a0021c0024t0001 | a0011c0013t0001g0151a0011c0013t0003g0130a0011c0013t0003g0135others(1): Show | 4 | 274 | 0.0146 | 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 | a0043 | a0043c0026 | a0043c0026t0001 | a0043c0026t0001g0137 | 1 | 274 | 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(199): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0015a0001c0057others(40): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(47): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(199): Show | 202 | 274 | 0.7372 | 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 |
a0010a0020a0031others(1): Show | a0010c0012a0020c0065a0031c0063others(1): Show | a0010c0012t0001a0010c0012t0007a0020c0065t0008others(2): Show | a0010c0012t0001g0038a0010c0012t0001g0086a0010c0012t0001g0089others(4): Show | 7 | 274 | 0.0256 | 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 | a0042c0040t0001g0171 | 1 | 274 | 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(218): Show |
a0001a0002a0004others(31): Show | a0001c0001a0001c0015a0001c0057others(52): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(61): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(218): Show | 221 | 274 | 0.8066 | 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 | a0041 | a0041c0041 | a0041c0041t0001 | a0041c0041t0001g0188 | 1 | 274 | 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 | a0033 | a0033c0061 | a0033c0061t0001 | a0033c0061t0001g0228 | 1 | 274 | 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 | a0021c0024t0001g0143 | 1 | 274 | 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(201): Show |
a0001a0002a0004others(27): Show | a0001c0001a0001c0015a0001c0057others(47): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(53): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(201): Show | 204 | 274 | 0.7445 | 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 |
a0009a0030 | a0009c0009a0030c0036 | a0009c0009t0001a0009c0009t0009a0009c0009t0010others(1): Show | a0009c0009t0001g0006a0009c0009t0001g0046a0009c0009t0001g0049others(3): Show | 6 | 274 | 0.0219 | 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 | a0034 | a0034c0050 | a0034c0050t0001 | a0034c0050t0001g0003 | 1 | 274 | 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 |
a0016a0035 | a0016c0042a0016c0043a0035c0044 | a0016c0042t0001a0016c0043t0001a0035c0044t0002 | a0016c0042t0001g0141a0016c0043t0001g0220a0035c0044t0002g0219 | 3 | 274 | 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(89): Show |
a0001a0007a0009others(10): Show | a0001c0001a0001c0015a0001c0057others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0015t0001others(24): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0053others(89): Show | 92 | 274 | 0.3358 | 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 | a0030 | a0030c0036 | a0030c0036t0001 | a0030c0036t0001g0044 | 1 | 274 | 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 | a0025 | a0025c0030 | a0025c0030t0001 | a0025c0030t0001g0249 | 1 | 274 | 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 | a0037 | a0037c0055 | a0037c0055t0001 | a0037c0055t0001g0183 | 1 | 274 | 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 | a0024 | a0024c0029 | a0024c0029t0001 | a0024c0029t0001g0041 | 1 | 274 | 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 |
a0007a0026a0038 | a0007c0007a0007c0025a0007c0056others(3): Show | a0007c0007t0001a0007c0007t0013a0007c0025t0014others(4): Show | a0007c0007t0001g0001a0007c0007t0001g0059a0007c0007t0001g0060others(11): Show | 14 | 274 | 0.0511 | 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 | a0040 | a0040c0052 | a0040c0052t0002 | a0040c0052t0002g0234 | 1 | 274 | 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 |
a0017a0036 | a0017c0051a0017c0059a0036c0049 | a0017c0051t0001a0017c0059t0001a0036c0049t0001 | a0017c0051t0001g0223a0017c0059t0001g0095a0036c0049t0001g0085 | 3 | 274 | 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 | a0031 | a0031c0063 | a0031c0063t0011 | a0031c0063t0011g0057 | 1 | 274 | 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 |
a0005a0013a0015others(4): Show | a0005c0005a0005c0046a0013c0014others(5): Show | a0005c0005t0002a0005c0046t0005a0013c0014t0002others(6): Show | a0005c0005t0002g0007a0005c0005t0002g0011a0005c0005t0002g0014others(20): Show | 23 | 274 | 0.0839 | 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 |
a0027a0039 | a0027c0033a0039c0053 | a0027c0033t0001a0039c0053t0001 | a0027c0033t0001g0240a0039c0053t0001g0244 | 2 | 274 | 0.0073 | 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 |
a0007 | a0007c0018a0007c0027 | a0007c0018t0001a0007c0027t0001 | a0007c0018t0001g0004a0007c0027t0001g0004 | 3 | 440 | 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 | a0013 | a0013c0028 | a0013c0028t0001 | a0013c0028t0001g0047 | 1 | 440 | 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 | 440 | 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 |
a0012 | a0012c0026 | a0012c0026t0001 | a0012c0026t0001g0018 | 2 | 440 | 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 | ||
ADAMTSL4_chr1_150544408_150565933 | 150553568 | G | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0002a0003a0004others(17): Show | a0002c0002a0002c0003a0002c0005others(35): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0009others(42): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0011others(101): Show | 245 | 440 | 0.5568 | 0 | c.577 others(3): Show |
p.Ala others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 827/4212 | 577/3225 | 193/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553575 | C | T | missense_variant | MODERATE | HG02965.hp2 | a0017 | a0017c0047 | a0017c0047t0001 | a0017c0047t0001g0090 | 1 | 440 | 0.0023 | 0 | c.584 others(3): Show |
p.Pro others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 834/4212 | 584/3225 | 195/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553613 | G | A | missense_variant | MODERATE | HG02615.hp2 HG03453.hp2 |
a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0001 | 2 | 440 | 0.0046 | 0 | c.622 others(3): Show |
p.Gly others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 872/4212 | 622/3225 | 208/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553794 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00639.hp1 |
a0008 | a0008c0025 | a0008c0025t0001 | a0008c0025t0001g0003 | 2 | 440 | 0.0046 | 0 | c.803 others(3): Show |
p.Ser others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 1053/4212 | 803/3225 | 268/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553911 | G | A | missense_variant | MODERATE | HG01891.hp2 HG03834.hp2 HG04115.hp2 |
a0006 | a0006c0020a0006c0030 | a0006c0020t0001a0006c0020t0006a0006c0030t0006 | a0006c0020t0001g0098a0006c0020t0006g0001a0006c0030t0006g0001 | 3 | 440 | 0.0068 | 0 | c.920 others(3): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 1170/4212 | 920/3225 | 307/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553917 | G | A | missense_variant | MODERATE | HG00438.hp1 HG00642.hp1 HG01070.hp1 others(32): Show |
a0003a0009a0015 | a0003c0004a0003c0031a0003c0032others(2): Show | a0003c0004t0001a0003c0004t0007a0003c0031t0001others(3): Show | a0003c0004t0001g0006a0003c0004t0001g0013a0003c0004t0001g0036others(10): Show | 35 | 440 | 0.0796 | 0 | c.926 others(3): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 1176/4212 | 926/3225 | 309/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150553970 | C | T | missense_variant | MODERATE | HG02615.hp1 | a0018 | a0018c0046 | a0018c0046t0001 | a0018c0046t0001g0001 | 1 | 440 | 0.0023 | 0 | c.979 others(3): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 6/19 | 1229/4212 | 979/3225 | 327/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150554374 | C | G | missense_variant | MODERATE | HG02738.hp2 | a0019 | a0019c0041 | a0019c0041t0001 | a0019c0041t0001g0003 | 1 | 440 | 0.0023 | 0 | c.114 others(4): Show |
p.Pro others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 7/19 | 1391/4212 | 1141/3225 | 381/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150555444 | G | A | missense_variant | MODERATE | NA19003.hp1 NA19087.hp1 |
a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0040 | 2 | 440 | 0.0046 | 0 | c.125 others(4): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 8/19 | 1500/4212 | 1250/3225 | 417/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150557533 | C | T | missense_variant | MODERATE | HG02055.hp2 HG02818.hp2 |
a0010 | a0010c0024 | a0010c0024t0004 | a0010c0024t0004g0028 | 2 | 440 | 0.0046 | 0 | c.208 others(4): Show |
p.Ser others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 13/19 | 2337/4212 | 2087/3225 | 696/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150557566 | C | T | missense_variant | MODERATE | HG02083.hp2 | a0026 | a0026c0039 | a0026c0039t0001 | a0026c0039t0001g0003 | 1 | 440 | 0.0023 | 0 | c.212 others(4): Show |
p.Ala others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 13/19 | 2370/4212 | 2120/3225 | 707/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150558072 | C | G | missense_variant | MODERATE | HG01106.hp2 | a0025 | a0025c0038 | a0025c0038t0001 | a0025c0038t0001g0007 | 1 | 440 | 0.0023 | 0 | c.230 others(4): Show |
p.Leu others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 14/19 | 2555/4212 | 2305/3225 | 769/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150558569 | C | T | missense_variant | MODERATE | HG00544.hp2 | a0016 | a0016c0050 | a0016c0050t0001 | a0016c0050t0001g0005 | 1 | 440 | 0.0023 | 0 | c.247 others(4): Show |
p.Pro others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 15/19 | 2729/4212 | 2479/3225 | 827/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150558602 | A | G | missense_variant | MODERATE | HG01433.hp2 HG01891.hp1 HG02145.hp2 others(13): Show |
a0004a0005a0012 | a0004c0013a0004c0016a0004c0023others(2): Show | a0004c0013t0001a0004c0016t0001a0004c0016t0003others(3): Show | a0004c0013t0001g0024a0004c0013t0001g0049a0004c0013t0001g0050others(10): Show | 16 | 440 | 0.0364 | 0 | c.251 others(4): Show |
p.Met others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 15/19 | 2762/4212 | 2512/3225 | 838/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559031 | G | A | missense_variant | MODERATE | HG02083.hp2 | a0026 | a0026c0039 | a0026c0039t0001 | a0026c0039t0001g0003 | 1 | 440 | 0.0023 | 0 | c.262 others(4): Show |
p.Gly others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2879/4212 | 2629/3225 | 877/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559061 | A | G | missense_variant | MODERATE | NA19054.hp1 | a0020 | a0020c0036 | a0020c0036t0001 | a0020c0036t0001g0017 | 1 | 440 | 0.0023 | 0 | c.265 others(4): Show |
p.Thr others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2909/4212 | 2659/3225 | 887/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559089 | G | T | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.268 others(4): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2937/4212 | 2687/3225 | 896/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559091 | C | G | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.268 others(4): Show |
p.Pro others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2939/4212 | 2689/3225 | 897/1074 | chr1 | TogoVar |