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 | 12722999 | T | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(125): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0018a0002c0019others(14): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(35): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(58): Show | 128 | 432 | 0.2963 | 0 | c.449 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723010 | T | A | intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02717.hp2 others(2): Show |
a0002a0004 | a0002c0018a0004c0007 | a0002c0018t0047a0004c0007t0015 | a0002c0018t0047g0086a0004c0007t0015g0044a0004c0007t0015g0105others(1): Show | 5 | 432 | 0.0116 | 0 | c.449 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723133 | G | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(125): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0018a0002c0019others(14): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(35): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(58): Show | 128 | 432 | 0.2963 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723175 | C | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(126): Show |
a0002a0003a0004others(7): Show | a0002c0003a0002c0018a0002c0019others(15): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(36): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(59): Show | 129 | 432 | 0.2986 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723319 | T | C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02559.hp2 others(7): Show |
a0007a0014 | a0007c0011a0007c0017a0014c0025 | a0007c0011t0016a0007c0011t0020a0007c0017t0016others(3): Show | a0007c0011t0016g0025a0007c0011t0020g0053a0007c0011t0020g0106others(5): Show | 10 | 432 | 0.0232 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723347 | A | G | intron_variant | MODIFIER | HG02809.hp2 NA19240.hp1 |
a0005 | a0005c0006 | a0005c0006t0034a0005c0006t0045 | a0005c0006t0034g0054a0005c0006t0045g0049 | 2 | 432 | 0.0046 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723353 | A | G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0012 | a0001c0012t0008 | a0001c0012t0008g0032 | 2 | 432 | 0.0046 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723384 | C | T | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 |
a0001a0015 | a0001c0002a0015c0028 | a0001c0002t0002a0015c0028t0002 | a0001c0002t0002g0098a0015c0028t0002g0075 | 2 | 432 | 0.0046 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723439 | C | A | intron_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0010 | a0004c0010t0046 | a0004c0010t0046g0052 | 1 | 432 | 0.0023 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723469 | G | A | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02559.hp2 others(7): Show |
a0007a0014 | a0007c0011a0007c0017a0014c0025 | a0007c0011t0016a0007c0011t0020a0007c0017t0016others(3): Show | a0007c0011t0016g0025a0007c0011t0020g0053a0007c0011t0020g0106others(5): Show | 10 | 432 | 0.0232 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723496 | G | A | intron_variant | MODIFIER | HG01074.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 2 | 432 | 0.0046 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723637 | C | A | intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0009 | a0003c0009t0005 | a0003c0009t0005g0140 | 1 | 432 | 0.0023 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723847 | G | A | intron_variant | MODIFIER | HG02809.hp2 NA19240.hp1 |
a0005 | a0005c0006 | a0005c0006t0034a0005c0006t0045 | a0005c0006t0034g0054a0005c0006t0045g0049 | 2 | 432 | 0.0046 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12723995 | G | T | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG03209.hp1 others(3): Show |
a0007a0014 | a0007c0011a0007c0017a0014c0025 | a0007c0011t0016a0007c0017t0016a0007c0017t0049others(1): Show | a0007c0011t0016g0025a0007c0017t0016g0080a0007c0017t0049g0057others(1): Show | 6 | 432 | 0.0139 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724080 | G | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(75): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0018a0003c0005others(3): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(10): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(25): Show | 78 | 432 | 0.1806 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724082 | T | C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 432 | 0.0023 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724093 | C | A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 432 | 0.0023 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724165 | G | A | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01243.hp1 others(17): Show |
a0002a0005 | a0002c0019a0005c0006a0005c0014others(1): Show | a0002c0019t0017a0005c0006t0006a0005c0006t0017others(3): Show | a0002c0019t0017g0007a0005c0006t0006g0007a0005c0006t0006g0055others(6): Show | 20 | 432 | 0.0463 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724197 | G | A | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG02897.hp2 |
a0007 | a0007c0011 | a0007c0011t0020 | a0007c0011t0020g0053a0007c0011t0020g0106a0007c0011t0020g0107 | 3 | 432 | 0.0069 | 0 | c.450 others(8): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724265 | A | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(115): Show |
a0002a0003a0004others(4): Show | a0002c0003a0002c0018a0002c0019others(11): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(29): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(50): Show | 118 | 432 | 0.2732 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724362 | C | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(75): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0018a0003c0005others(3): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(10): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(25): Show | 78 | 432 | 0.1806 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724587 | T | A | intron_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0006 | a0005c0006t0034 | a0005c0006t0034g0054 | 1 | 432 | 0.0023 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724621 | A | G | intron_variant | MODIFIER | HG02602.hp1 HG03688.hp2 HG04184.hp2 |
a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0031 | 3 | 432 | 0.0069 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724673 | G | T | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 432 | 0.0023 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724722 | T | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(125): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0018a0002c0019others(14): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(35): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(58): Show | 128 | 432 | 0.2963 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12724740 | C | A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01109.hp2 others(37): Show |
a0002a0004a0005others(2): Show | a0002c0018a0002c0019a0004c0007others(7): Show | a0002c0018t0047a0002c0019t0017a0004c0007t0012others(16): Show | a0002c0018t0047g0086a0002c0019t0017g0007a0004c0007t0012g0126others(22): Show | 40 | 432 | 0.0926 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725000 | C | G | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp1 NA21309.hp1 |
a0004 | a0004c0007a0004c0024 | a0004c0007t0019a0004c0024t0019 | a0004c0007t0019g0043a0004c0024t0019g0081 | 3 | 432 | 0.0069 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725000 | C | T | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01358.hp2 |
a0002a0003 | a0002c0003a0003c0005 | a0002c0003t0005a0003c0005t0007 | a0002c0003t0005g0071a0002c0003t0005g0085a0003c0005t0007g0109 | 3 | 432 | 0.0069 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725048 | T | C | intron_variant | MODIFIER | HG00642.hp1 HG02809.hp2 NA19240.hp1 |
a0005 | a0005c0006 | a0005c0006t0034a0005c0006t0035a0005c0006t0045 | a0005c0006t0034g0054a0005c0006t0035g0079a0005c0006t0045g0049 | 3 | 432 | 0.0069 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725112 | C | A | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 432 | 0.0023 | 0 | c.450 others(7): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725126 | G | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(85): Show |
a0002a0003a0004others(3): Show | a0002c0003a0002c0018a0003c0005others(6): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(16): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(33): Show | 88 | 432 | 0.2037 | 0 | c.450 others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
AADACL3_chr1_12711110_12733760 | 12725231 | G | A | synonymous_variant | LOW | HG02145.hp1 | a0004 | a0004c0024 | a0004c0024t0019 | a0004c0024t0019g0081 | 1 | 432 | 0.0023 | 0 | c.459 others(3): Show |
p.Lys others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 526/4055 | 459/1224 | 153/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725328 | C | T | missense_variant | MODERATE | HG00597.hp2 HG02071.hp1 NA18946.hp1 others(12): Show |
a0006 | a0006c0008a0006c0015a0006c0035 | a0006c0008t0008a0006c0015t0011a0006c0035t0011 | a0006c0008t0008g0009a0006c0008t0008g0036a0006c0015t0011g0024others(3): Show | 15 | 432 | 0.0347 | 0 | c.556 others(3): Show |
p.Arg others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 623/4055 | 556/1224 | 186/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725370 | G | A | missense_variant | MODERATE | HG02451.hp2 | a0017 | a0017c0034 | a0017c0034t0033 | a0017c0034t0033g0129 | 1 | 432 | 0.0023 | 0 | c.598 others(3): Show |
p.Ala others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 665/4055 | 598/1224 | 200/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725413 | G | A | missense_variant | MODERATE | HG02717.hp1 | a0011 | a0011c0023 | a0011c0023t0043 | a0011c0023t0043g0047 | 1 | 432 | 0.0023 | 0 | c.641 others(3): Show |
p.Arg others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 708/4055 | 641/1224 | 214/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725484 | A | G | missense_variant | MODERATE | HG02717.hp1 | a0011 | a0011c0023 | a0011c0023t0043 | a0011c0023t0043g0047 | 1 | 432 | 0.0023 | 0 | c.712 others(3): Show |
p.Arg others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 779/4055 | 712/1224 | 238/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725527 | T | G | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(125): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0018a0002c0019others(14): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(35): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(58): Show | 128 | 432 | 0.2963 | 0 | c.755 others(3): Show |
p.Phe others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 822/4055 | 755/1224 | 252/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725634 | G | A | missense_variant | MODERATE | HG03669.hp2 | a0016 | a0016c0027 | a0016c0027t0002 | a0016c0027t0002g0143 | 1 | 432 | 0.0023 | 0 | c.862 others(3): Show |
p.Glu others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 929/4055 | 862/1224 | 288/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725641 | T | A | missense_variant | MODERATE | HG03209.hp1 | a0014 | a0014c0025 | a0014c0025t0048 | a0014c0025t0048g0050 | 1 | 432 | 0.0023 | 0 | c.869 others(3): Show |
p.Ile others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 936/4055 | 869/1224 | 290/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725683 | A | G | missense_variant | MODERATE | HG02109.hp1 | a0019 | a0019c0036 | a0019c0036t0007 | a0019c0036t0007g0040 | 1 | 432 | 0.0023 | 0 | c.911 others(3): Show |
p.His others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 978/4055 | 911/1224 | 304/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725693 | G | T | missense_variant | MODERATE | HG02055.hp2 HG02559.hp1 HG02559.hp2 others(7): Show |
a0007a0014 | a0007c0011a0007c0017a0014c0025 | a0007c0011t0016a0007c0011t0020a0007c0017t0016others(3): Show | a0007c0011t0016g0025a0007c0011t0020g0053a0007c0011t0020g0106others(5): Show | 10 | 432 | 0.0232 | 0 | c.921 others(3): Show |
p.Met others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 988/4055 | 921/1224 | 307/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725715 | G | A | missense_variant | MODERATE | HG02818.hp2 | a0015 | a0015c0028 | a0015c0028t0002 | a0015c0028t0002g0075 | 1 | 432 | 0.0023 | 0 | c.943 others(3): Show |
p.Val others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 1010/4055 | 943/1224 | 315/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725777 | G | T | missense_variant | MODERATE | HG03579.hp1 | a0013 | a0013c0026 | a0013c0026t0012 | a0013c0026t0012g0089 | 1 | 432 | 0.0023 | 0 | c.100 others(4): Show |
p.Gln others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 1072/4055 | 1005/1224 | 335/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12725782 | C | T | missense_variant | MODERATE | HG00642.hp1 HG01106.hp1 HG01192.hp1 others(20): Show |
a0002a0005 | a0002c0019a0005c0006a0005c0014others(1): Show | a0002c0019t0017a0005c0006t0006a0005c0006t0017others(6): Show | a0002c0019t0017g0007a0005c0006t0006g0007a0005c0006t0006g0055others(9): Show | 23 | 432 | 0.0532 | 0 | c.101 others(4): Show |
p.Pro others(6): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 1077/4055 | 1010/1224 | 337/407 | chr1 | TogoVar | ||
AADACL3_chr1_12711110_12733760 | 12726022 | C | T | 3_prime_UTR_variant | MODIFIER | HG02155.hp1 HG03669.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0026a0002c0004t0026 | a0001c0002t0026g0010a0002c0004t0026g0030 | 2 | 432 | 0.0046 | 0 | c.*26 others(3): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 26 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12726103 | G | A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(95): Show |
a0002a0003a0004others(2): Show | a0002c0003a0002c0018a0002c0019others(7): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(16): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(34): Show | 98 | 432 | 0.2269 | 0 | c.*10 others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 107 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12726138 | C | T | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02647.hp2 HG03453.hp1 others(2): Show |
a0007 | a0007c0011a0007c0017 | a0007c0011t0016a0007c0017t0016a0007c0017t0049 | a0007c0011t0016g0025a0007c0017t0016g0080a0007c0017t0049g0057 | 5 | 432 | 0.0116 | 0 | c.*14 others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 142 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12726147 | C | T | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02559.hp2 others(7): Show |
a0007a0014 | a0007c0011a0007c0017a0014c0025 | a0007c0011t0016a0007c0011t0020a0007c0017t0016others(3): Show | a0007c0011t0016g0025a0007c0011t0020g0053a0007c0011t0020g0106others(5): Show | 10 | 432 | 0.0232 | 0 | c.*15 others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 151 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12726306 | C | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(115): Show |
a0002a0003a0004others(4): Show | a0002c0003a0002c0018a0002c0019others(11): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(29): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(50): Show | 118 | 432 | 0.2732 | 0 | c.*31 others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 310 | chr1 | TogoVar | |||||
AADACL3_chr1_12711110_12733760 | 12726341 | A | G | 3_prime_UTR_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0017 | a0007c0017t0036 | a0007c0017t0036g0078 | 1 | 432 | 0.0023 | 0 | c.*34 others(4): Show |
AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | 345 | chr1 | TogoVar |