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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AADACL3_chr1_12711110_12733760 | 12716131 | A | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(148): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0012a0002c0003others(16): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0026others(32): Show | a0001c0002t0002g0010a0001c0002t0002g0012a0001c0002t0002g0021others(75): Show | 151 | 432 | 0.3495 | 0 | c.-46 others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 46 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12716158 | G | A | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01516.hp2 HG01517.hp2 others(19): Show |
a0001a0006 | a0001c0002a0001c0012a0006c0008 | a0001c0002t0009a0001c0002t0037a0001c0012t0008others(1): Show | a0001c0002t0009g0017a0001c0002t0009g0033a0001c0002t0009g0064others(7): Show | 22 | 432 | 0.0509 | 0 | c.-19 others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 19 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12716184 | A | G | missense_variant | MODERATE | HG03942.hp1 | a0020 | a0020c0037 | a0020c0037t0001 | a0020c0037t0001g0001 | 1 | 432 | 0.0023 | 0 | c.8A> others(1): Show |
p.Asp others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 75/4055 | 8/1224 | 3/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12716215 | C | A | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0.1690 | 0 | c.39C others(2): Show |
p.Cys others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 106/4055 | 39/1224 | 13/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12716340 | C | T | missense_variant | MODERATE | NA18943.hp2 NA19001.hp2 NA19004.hp1 others(2): Show |
a0008 | a0008c0016 | a0008c0016t0001a0008c0016t0013a0008c0016t0021 | a0008c0016t0001g0002a0008c0016t0013g0016a0008c0016t0021g0001others(1): Show | 5 | 432 | 0.0116 | 0 | c.164 others(3): Show |
p.Thr others(5): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 231/4055 | 164/1224 | 55/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12716341 | T | A | synonymous_variant | LOW | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(173): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0012a0002c0003others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0082a0001c0002t0002g0010others(89): Show | 176 | 432 | 0.4074 | 0 | c.165 others(3): Show |
p.Thr others(5): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | 232/4055 | 165/1224 | 55/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12716455 | C | G | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716521 | G | T | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0145 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716593 | A | G | intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0144 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716724 | G | A | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG03209.hp1 others(1): Show |
a0005a0011a0014 | a0005c0006a0011c0023a0014c0025 | a0005c0006t0017a0005c0006t0045a0011c0023t0043others(1): Show | a0005c0006t0017g0048a0005c0006t0045g0049a0011c0023t0043g0047others(1): Show | 4 | 432 | 0.0093 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716731 | T | G | intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0144 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716736 | C | T | intron_variant | MODIFIER | HG02602.hp1 HG02683.hp2 HG02698.hp1 others(8): Show |
a0001a0003a0016 | a0001c0002a0001c0012a0003c0009others(1): Show | a0001c0002t0002a0001c0002t0040a0001c0012t0024others(3): Show | a0001c0002t0002g0021a0001c0002t0002g0142a0001c0002t0040g0021others(4): Show | 11 | 432 | 0.0255 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716839 | A | G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716901 | G | T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12716978 | G | A | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp2 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0002a0004c0010t0046 | a0001c0002t0002g0051a0004c0010t0046g0052 | 2 | 432 | 0.0046 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717046 | C | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(24): Show |
a0002 | a0002c0003a0002c0004a0002c0020others(1): Show | a0002c0003t0003a0002c0004t0002a0002c0004t0026others(3): Show | a0002c0003t0003g0004a0002c0003t0003g0136a0002c0004t0002g0020others(6): Show | 27 | 432 | 0.0625 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717125 | A | C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 432 | 0.0023 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717317 | T | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(167): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0012a0002c0003others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(45): Show | a0001c0002t0001g0082a0001c0002t0002g0010a0001c0002t0002g0012others(86): Show | 170 | 432 | 0.3935 | 0 | c.168 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717358 | G | A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG00741.hp2 others(11): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0003c0005t0004a0004c0007t0004others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0094a0001c0001t0001g0095others(3): Show | 14 | 432 | 0.0324 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717402 | G | A | intron_variant | MODIFIER | HG01192.hp1 HG02622.hp1 HG02647.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0014 | a0001c0001t0001a0001c0002t0002a0005c0014t0006 | a0001c0001t0001g0099a0001c0002t0002g0037a0001c0002t0002g0096others(2): Show | 6 | 432 | 0.0139 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717461 | C | T | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 432 | 0.0023 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717515 | T | C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0051 | 1 | 432 | 0.0023 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717631 | T | C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 432 | 0.0046 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717652 | C | T | intron_variant | MODIFIER | HG02896.hp2 NA18522.hp2 |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0002a0004c0010t0046 | a0001c0002t0002g0051a0004c0010t0046g0052 | 2 | 432 | 0.0046 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717711 | T | C | intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0010 | a0004c0010t0046 | a0004c0010t0046g0052 | 1 | 432 | 0.0023 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717853 | G | A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0039a0001c0001t0018g0100 | 3 | 432 | 0.0069 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717879 | G | T | intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0090 | 1 | 432 | 0.0023 | 0 | c.168 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717928 | C | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0012a0002c0003others(18): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(39): Show | a0001c0002t0001g0082a0001c0002t0002g0010a0001c0002t0002g0012others(79): Show | 163 | 432 | 0.3773 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12717975 | C | T | intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0006 | a0005c0006t0034 | a0005c0006t0034g0054 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718039 | T | C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718111 | C | A | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03540.hp1 others(1): Show |
a0001a0004a0005others(1): Show | a0001c0002a0004c0010a0005c0006others(1): Show | a0001c0002t0002a0004c0010t0025a0005c0006t0006others(1): Show | a0001c0002t0002g0051a0004c0010t0025g0056a0005c0006t0006g0055others(1): Show | 4 | 432 | 0.0093 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718149 | C | T | intron_variant | MODIFIER | HG03579.hp1 | a0013 | a0013c0026 | a0013c0026t0012 | a0013c0026t0012g0089 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718236 | T | A | intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0144 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718342 | A | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(165): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0012a0002c0003others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(44): Show | a0001c0002t0001g0082a0001c0002t0002g0010a0001c0002t0002g0012others(84): Show | 168 | 432 | 0.3889 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718347 | G | A | intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0144 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718355 | T | C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0096 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718434 | A | C | intron_variant | MODIFIER | HG03669.hp2 | a0016 | a0016c0027 | a0016c0027t0002 | a0016c0027t0002g0143 | 1 | 432 | 0.0023 | 0 | c.169 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718480 | C | T | intron_variant | MODIFIER | HG00597.hp2 HG01516.hp2 HG01517.hp2 others(29): Show |
a0001a0003a0006others(1): Show | a0001c0002a0001c0012a0003c0009others(2): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0037others(6): Show | a0001c0002t0002g0021a0001c0002t0002g0142a0001c0002t0009g0017others(13): Show | 32 | 432 | 0.0741 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718596 | A | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0004others(7): Show | a0001c0002t0002a0002c0003t0003a0002c0003t0005others(14): Show | a0001c0002t0002g0087a0002c0003t0003g0004a0002c0003t0003g0005others(28): Show | 82 | 432 | 0.1898 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718599 | A | G | intron_variant | MODIFIER | HG02056.hp2 HG02074.hp1 HG02165.hp1 others(21): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0004c0007others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0026others(3): Show | a0001c0001t0001g0128a0001c0002t0002g0010a0001c0002t0002g0012others(11): Show | 24 | 432 | 0.0556 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718639 | G | T | intron_variant | MODIFIER | HG02647.hp2 HG03540.hp1 |
a0004a0007 | a0004c0010a0007c0017 | a0004c0010t0025a0007c0017t0049 | a0004c0010t0025g0056a0007c0017t0049g0057 | 2 | 432 | 0.0046 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718808 | C | T | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 432 | 0.0023 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718986 | T | C | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 432 | 0.0023 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12718996 | G | A | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02615.hp2 others(10): Show |
a0001a0004a0005others(1): Show | a0001c0002a0004c0010a0005c0006others(1): Show | a0001c0002t0002a0004c0010t0046a0005c0006t0017others(1): Show | a0001c0002t0002g0022a0001c0002t0002g0037a0001c0002t0002g0065others(7): Show | 13 | 432 | 0.0301 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12719010 | T | C | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 |
a0004a0007 | a0004c0007a0007c0017 | a0004c0007t0015a0007c0017t0036 | a0004c0007t0015g0105a0007c0017t0036g0078 | 2 | 432 | 0.0046 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12719119 | C | T | intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0126 | 1 | 432 | 0.0023 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12719353 | A | G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 432 | 0.0023 | 0 | c.169 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12719400 | A | T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022a0001c0002t0002g0065 | 4 | 432 | 0.0093 | 0 | c.169 others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12719545 | C | T | missense_variant | MODERATE | HG02965.hp1 | a0010 | a0010c0030 | a0010c0030t0012 | a0010c0030t0012g0013 | 1 | 432 | 0.0023 | 0 | c.239 others(3): Show |
p.Pro others(5): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 2/4 | 306/4055 | 239/1224 | 80/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12719558 | C | T | synonymous_variant | LOW | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(69): Show |
a0002a0003a0019 | a0002c0003a0002c0020a0002c0022others(3): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(10): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(22): Show | 72 | 432 | 0.1667 | 0 | c.252 others(3): Show |
p.Asp others(5): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 2/4 | 319/4055 | 252/1224 | 84/407 | chr1 | TogoVar |