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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM30_chr1_119888533_119901515 | 119895261 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(65): Show |
a0002a0003a0006others(2): Show | a0002c0002a0002c0007a0003c0004others(4): Show | a0002c0002t0002a0002c0007t0002a0003c0004t0001others(5): Show | a0002c0002t0002g0000a0002c0007t0002g0000a0003c0004t0001g0000others(5): Show | 68 | 388 | 0.1753 | 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 | a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0106 | 1 | 257 | 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 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0077 | 1 | 257 | 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(239): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(237): Show | 242 | 257 | 0.9416 | 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 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0119 | 1 | 257 | 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 | a0006c0008t0001g0068a0006c0008t0001g0069a0006c0008t0002g0132 | 3 | 257 | 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 | a0003c0004t0001g0133a0003c0004t0001g0134a0003c0004t0001g0135others(15): Show | 18 | 257 | 0.0700 | 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 | a0007c0009t0001g0151a0007c0009t0001g0245 | 2 | 257 | 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 | a0002c0003t0001g0008a0002c0003t0001g0150a0002c0003t0001g0156others(38): Show | 41 | 257 | 0.1595 | 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 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0137 | 1 | 257 | 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 | a0000 | a0000c0045 | a0000c0045t0034 | a0000c0045t0034g0348 | 1 | 462 | 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 |
a0002a0005a0008others(1): Show | a0002c0002a0002c0008a0002c0018others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(12): Show | a0002c0002t0001g0043a0002c0002t0001g0114a0002c0002t0001g0182others(51): Show | 61 | 462 | 0.1320 | 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 |
a0002a0008a0011others(2): Show | a0002c0002a0002c0008a0002c0018others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0043a0002c0002t0001g0114a0002c0002t0001g0182others(45): Show | 54 | 462 | 0.1169 | 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 | a0000 | a0000c0037 | a0000c0037t0007 | a0000c0037t0007g0110 | 1 | 462 | 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 |
a0003 | a0003c0005a0003c0017 | a0003c0005t0001a0003c0005t0002a0003c0005t0004others(2): Show | a0003c0005t0001g0157a0003c0005t0002g0292a0003c0005t0004g0009others(11): Show | 20 | 462 | 0.0433 | 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 | a0000 | a0000c0045 | a0000c0045t0034 | a0000c0045t0034g0348 | 1 | 462 | 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 |
a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0074a0008c0014t0002g0347a0008c0014t0002g0365 | 3 | 462 | 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 |
a0009 | a0009c0016 | a0009c0016t0004 | a0009c0016t0004g0013a0009c0016t0004g0042 | 3 | 462 | 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 | a0013 | a0013c0040 | a0013c0040t0006 | a0013c0040t0006g0120 | 1 | 462 | 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 |
a0007 | a0007c0011 | a0007c0011t0005a0007c0011t0009 | a0007c0011t0005g0121a0007c0011t0009g0023a0007c0011t0009g0066others(1): Show | 5 | 462 | 0.0108 | 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 | a0016 | a0016c0032 | a0016c0032t0005 | a0016c0032t0005g0213 | 1 | 462 | 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 | a0017 | a0017c0028 | a0017c0028t0005 | a0017c0028t0005g0163 | 1 | 462 | 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 | a0015 | a0015c0031 | a0015c0031t0004 | a0015c0031t0004g0297 | 1 | 462 | 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 | a0018 | a0018c0036 | a0018c0036t0001 | a0018c0036t0001g0199 | 1 | 462 | 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 | a0014 | a0014c0044 | a0014c0044t0004 | a0014c0044t0004g0129 | 1 | 462 | 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 | a0011 | a0011c0038 | a0011c0038t0002 | a0011c0038t0002g0318 | 1 | 462 | 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 |
a0000a0004 | a0000c0029a0004c0004 | a0000c0029t0022a0004c0004t0002a0004c0004t0010others(2): Show | a0000c0029t0022g0147a0004c0004t0002g0021a0004c0004t0002g0104others(15): Show | 19 | 462 | 0.0411 | 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 |
a0000a0006a0011others(3): Show | a0000c0003a0000c0037a0000c0039others(9): Show | a0000c0003t0007a0000c0003t0008a0000c0003t0032others(12): Show | a0000c0003t0007g0058a0000c0003t0007g0095a0000c0003t0007g0096others(27): Show | 35 | 462 | 0.0758 | 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 |
a0010 | a0010c0022 | a0010c0022t0001 | a0010c0022t0001g0124a0010c0022t0001g0307 | 2 | 462 | 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 | a0000 | a0000c0045 | a0000c0045t0034 | a0000c0045t0034g0348 | 1 | 462 | 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 | ||
ADAM33_chr20_3662975_3687010 | 3675055 | T | C | missense_variant | MODERATE | NA19076.hp2 | a0000 | a0000c0045 | a0000c0045t0034 | a0000c0045t0034g0348 | 1 | 462 | 0.0022 | 0 | c.305 others(3): Show |
p.Gln others(6): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 4/22 | 311/3436 | 305/2442 | 102/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677118 | A | G | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.203 others(3): Show |
p.Val others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 209/3436 | 203/2442 | 68/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677126 | C | A | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.195 others(3): Show |
p.Met others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 201/3436 | 195/2442 | 65/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677127 | A | G | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.194 others(3): Show |
p.Met others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 200/3436 | 194/2442 | 65/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677128 | T | C | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.193 others(3): Show |
p.Met others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 199/3436 | 193/2442 | 65/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677129 | G | T | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.192 others(3): Show |
p.Asp others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 198/3436 | 192/2442 | 64/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3677130 | T | C | missense_variant | MODERATE | NA19076.hp1 | a0019 | a0019c0046 | a0019c0046t0003 | a0019c0046t0003g0309 | 1 | 462 | 0.0022 | 0 | c.191 others(3): Show |
p.Asp others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 3/22 | 197/3436 | 191/2442 | 64/813 | chr20 | TogoVar | ||
ADAM33_chr20_3662975_3687010 | 3679514 | C | T | missense_variant | MODERATE | NA18966.hp2 | a0000 | a0000c0024 | a0000c0024t0008 | a0000c0024t0008g0050 | 1 | 462 | 0.0022 | 0 | c.155 others(3): Show |
p.Arg others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 2/22 | 161/3436 | 155/2442 | 52/813 | chr20 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24442493 | G | C | missense_variant | MODERATE | HG02258.hp1 HG03225.hp2 |
a0016a0017 | a0016c0015a0017c0016 | a0016c0015t0004a0017c0016t0008 | a0016c0015t0004g0055a0017c0016t0008g0056 | 2 | 360 | 0.0056 | 0 | c.73G others(2): Show |
p.Glu others(5): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2/22 | 156/3367 | 73/2265 | 25/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24447190 | C | T | missense_variant | MODERATE | HG00438.hp1 | a0007 | a0007c0036 | a0007c0036t0002 | a0007c0036t0002g0250 | 1 | 360 | 0.0028 | 0 | c.161 others(3): Show |
p.Thr others(5): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 3/22 | 244/3367 | 161/2265 | 54/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24447241 | T | C | missense_variant | MODERATE | HG02622.hp1 | a0008 | a0008c0018 | a0008c0018t0002 | a0008c0018t0002g0222 | 1 | 360 | 0.0028 | 0 | c.212 others(3): Show |
p.Val others(5): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 3/22 | 295/3367 | 212/2265 | 71/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24468800 | A | G | missense_variant | MODERATE | HG02258.hp1 NA20129.hp1 |
a0015a0017 | a0015c0035a0017c0016 | a0015c0035t0008a0017c0016t0008 | a0015c0035t0008g0045a0017c0016t0008g0056 | 2 | 360 | 0.0056 | 0 | c.613 others(3): Show |
p.Ile others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 7/22 | 696/3367 | 613/2265 | 205/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24482166 | G | A | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
a0002a0004a0009others(2): Show | a0002c0003a0002c0007a0002c0012others(6): Show | a0002c0003t0001a0002c0003t0012a0002c0003t0015others(8): Show | a0002c0003t0001g0001a0002c0003t0001g0012a0002c0003t0001g0013others(77): Show | 90 | 360 | 0.2500 | 0 | c.730 others(3): Show |
p.Val others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 9/22 | 813/3367 | 730/2265 | 244/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24482227 | T | C | missense_variant | MODERATE | NA20805.hp2 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0170 | 1 | 360 | 0.0028 | 0 | c.791 others(3): Show |
p.Ile others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 9/22 | 874/3367 | 791/2265 | 264/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24487298 | G | A | missense_variant | MODERATE | HG03942.hp2 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0164 | 1 | 360 | 0.0028 | 0 | c.107 others(4): Show |
p.Val others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/22 | 1155/3367 | 1072/2265 | 358/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24487317 | G | A | missense_variant others(1): Show |
MODERATE | NA18952.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0122 | 1 | 360 | 0.0028 | 0 | c.109 others(4): Show |
p.Ser others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/22 | 1174/3367 | 1091/2265 | 364/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24490841 | A | G | missense_variant | MODERATE | NA19068.hp1 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0017 | 1 | 360 | 0.0028 | 0 | c.130 others(4): Show |
p.Lys others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 13/22 | 1392/3367 | 1309/2265 | 437/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24490842 | A | T | missense_variant | MODERATE | NA19068.hp1 | a0011 | a0011c0023 | a0011c0023t0001 | a0011c0023t0001g0017 | 1 | 360 | 0.0028 | 0 | c.131 others(4): Show |
p.Lys others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 13/22 | 1393/3367 | 1310/2265 | 437/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24491904 | T | C | missense_variant others(1): Show |
MODERATE | HG01081.hp1 HG01192.hp1 HG01358.hp1 others(8): Show |
a0004a0011 | a0004c0005a0011c0023 | a0004c0005t0001a0011c0023t0001 | a0004c0005t0001g0002a0004c0005t0001g0017a0004c0005t0001g0086others(6): Show | 11 | 360 | 0.0306 | 0 | c.135 others(4): Show |
p.Ile others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 14/22 | 1441/3367 | 1358/2265 | 453/754 | chr8 | TogoVar | ||
ADAM7_chr8_24436026_24514565 | 24492049 | G | A | missense_variant | MODERATE | HG01891.hp2 | a0013 | a0013c0026 | a0013c0026t0007 | a0013c0026t0007g0147 | 1 | 360 | 0.0028 | 0 | c.150 others(4): Show |
p.Met others(6): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 14/22 | 1586/3367 | 1503/2265 | 501/754 | chr8 | TogoVar |