| geneid | 132949 |
|---|---|
| ensemblid | ENSG00000157426.14 |
| hgncid | 23993 |
| symbol | AASDH |
| name | aminoadipate-semialdehyde dehydrogenase |
| refseq_nuc | NM_181806.4 |
| refseq_prot | NP_861522.2 |
| ensembl_nuc | ENST00000205214.11 |
| ensembl_prot | ENSP00000205214.6 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 56338290 |
| end | 56387491 |
| strand | - |
| ver | v1.2 |
| region | chr4:56338290-56387491 |
| region5000 | chr4:56333290-56392491 |
| regionname0 | AASDH_chr4_56338290_56387491 |
| regionname5000 | AASDH_chr4_56333290_56392491 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56338611
|
A | C | 0.2592 | missense_variant | MODERATE | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(96): Show |
a0002a0006a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(84): Show | 99 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | c.3088T>G | p.Tyr1030Asp | 3260/3581 | 3088/3297 | 1030/1098 | ||
|
chr4:56345186
|
T | C | 0.2539 | missense_variant | MODERATE | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(83): Show | 97 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/15 | c.2593A>G | p.Thr865Ala | 2765/3581 | 2593/3297 | 865/1098 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56353426
|
G | A | 0.6126 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | c.1554C>T | p.Asp518Asp | 1726/3581 | 1554/3297 | 518/1098 | ||
|
chr4:56353447
|
C | T | 0.2618 | synonymous_variant | LOW | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | c.1533G>A | p.Pro511Pro | 1705/3581 | 1533/3297 | 511/1098 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56339162
|
A | AT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(95): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(84): Show | 98 | 382 | 0.2565 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-372dupA | ||||||
|
chr4:56339191
|
T | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-400A>T | ||||||
|
chr4:56339204
|
A | C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0002a0006 | a0002c0002a0006c0020 | a0002c0002t0001a0006c0020t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(23): Show | 29 | 382 | 0.0759 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-413T>G | ||||||
|
chr4:56339387
|
C | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-596G>A | ||||||
|
chr4:56339622
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(292): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(20): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(24): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(261): Show | 295 | 382 | 0.7723 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-831T>C | ||||||
|
chr4:56339748
|
C | CA | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(22): Show |
a0002a0006a0016 | a0002c0002a0006c0020a0016c0018 | a0002c0002t0001a0006c0020t0001a0016c0018t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(19): Show | 25 | 382 | 0.0655 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-958dupT | ||||||
|
chr4:56341022
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(205): Show | 231 | 382 | 0.6047 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1813C>T | ||||||
|
chr4:56341389
|
C | CT | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00735.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0007others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0083a0001c0001t0001g0095others(81): Show | 96 | 382 | 0.2513 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1445dupA | ||||||
|
chr4:56342004
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+831G>A | ||||||
|
chr4:56342038
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+797A>G | ||||||
|
chr4:56342594
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+241A>G | ||||||
|
chr4:56342789
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0005a0001c0010a0002c0002others(8): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(10): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(147): Show | 165 | 382 | 0.4319 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+46T>A | ||||||
|
chr4:56343340
|
AAAC | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0003a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | -3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+219_2775+221delGTT | ||||||
|
chr4:56343365
|
CAT | C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(22): Show | 28 | 382 | 0.0733 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+195_2775+196delAT | ||||||
|
chr4:56344944
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(87): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(76): Show | 90 | 382 | 0.2356 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2652+183A>G | ||||||
|
chr4:56347137
|
A | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2489-1847T>C | ||||||
|
chr4:56347692
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(221): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(200): Show | 224 | 382 | 0.5864 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1571C>T | ||||||
|
chr4:56348241
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1022G>A | ||||||
|
chr4:56348606
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+657G>A | ||||||
|
chr4:56350884
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+458A>G | ||||||
|
chr4:56351629
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1577-172G>C | ||||||
|
chr4:56351754
|
A | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1577-297T>G | ||||||
|
chr4:56351917
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(151): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0005a0001c0010others(12): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(14): Show | a0001c0001t0001g0073a0001c0005t0001g0011a0001c0005t0001g0028others(136): Show | 154 | 382 | 0.4031 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1577-461delT | ||||||
|
chr4:56352277
|
T | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1577-820A>T | ||||||
|
chr4:56355593
|
GTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0006others(4): Show | a0001c0010t0001a0002c0002t0001a0002c0006t0001others(5): Show | a0001c0010t0001g0280a0001c0010t0001g0281a0002c0002t0001g0017others(86): Show | 100 | 382 | 0.2618 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-172_862-171delAA | ||||||
|
chr4:56355792
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(229): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(206): Show | 232 | 382 | 0.6073 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-369T>A | ||||||
|
chr4:56355882
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-459A>T | ||||||
|
chr4:56356127
|
C | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(83): Show | 97 | 382 | 0.2539 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-704G>A | ||||||
|
chr4:56356260
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-837T>C | ||||||
|
chr4:56356368
|
C | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-945G>T | ||||||
|
chr4:56356615
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0010t0001a0002c0002t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-1192G>T | ||||||
|
chr4:56357516
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-2093G>A | ||||||
|
chr4:56358463
|
G | A | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(22): Show | 28 | 382 | 0.0733 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3040C>T | ||||||
|
chr4:56359324
|
C | CGCCTCCT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 7 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3908_862-3902dupAGGAGGC | ||||||
|
chr4:56359622
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4199T>C | ||||||
|
chr4:56360931
|
C | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-5508G>A | ||||||
|
chr4:56362263
|
C | G | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(95): Show |
a0002a0008a0012others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(84): Show | 98 | 382 | 0.2565 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-6840G>C | ||||||
|
chr4:56363044
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-7621A>G | ||||||
|
chr4:56363185
|
C | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(83): Show | 97 | 382 | 0.2539 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-7762G>T | ||||||
|
chr4:56363853
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7598A>G | ||||||
|
chr4:56364307
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7144T>G | ||||||
|
chr4:56364384
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7067A>G | ||||||
|
chr4:56364427
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7024C>T | ||||||
|
chr4:56365076
|
C | T | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(22): Show | 28 | 382 | 0.0733 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6375G>A | ||||||
|
chr4:56365458
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(290): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(259): Show | 293 | 382 | 0.7670 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5993T>G | ||||||
|
chr4:56367118
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4333A>G | ||||||
|
chr4:56367448
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4003A>G | ||||||
|
chr4:56367470
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3981A>G | ||||||
|
chr4:56367597
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3854C>G | ||||||
|
chr4:56367621
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3830C>A | ||||||
|
chr4:56367651
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3800C>T | ||||||
|
chr4:56367875
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3576G>T | ||||||
|
chr4:56368150
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3301T>G | ||||||
|
chr4:56368395
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3056A>G | ||||||
|
chr4:56368709
|
G | C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(22): Show | 28 | 382 | 0.0733 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2742C>G | ||||||
|
chr4:56369308
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2143C>G | ||||||
|
chr4:56369958
|
A | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(83): Show | 97 | 382 | 0.2539 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+1493T>G | ||||||
|
chr4:56370165
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+1286G>A | ||||||
|
chr4:56370824
|
T | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+627A>G | ||||||
|
chr4:56370994
|
T | G | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(105): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(93): Show | 108 | 382 | 0.2827 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+457A>C | ||||||
|
chr4:56372059
|
T | C | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(22): Show | 28 | 382 | 0.0733 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-416A>G | ||||||
|
chr4:56373014
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-1371G>A | ||||||
|
chr4:56373825
|
GTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2184_669-2183delAA | ||||||
|
chr4:56373828
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2185G>C | ||||||
|
chr4:56373832
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2189A>T | ||||||
|
chr4:56373833
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2191_669-2190insA | ||||||
|
chr4:56373835
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(260): Show | 294 | 382 | 0.7696 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2192A>G | ||||||
|
chr4:56374367
|
CAGAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | -15 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2739_669-2725delTTTTTTTTTTTTTCT | ||||||
|
chr4:56375192
|
A | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0006a0008others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(85): Show | 100 | 382 | 0.2618 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2956T>A | ||||||
|
chr4:56376019
|
C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0001a0002c0002t0001 | a0001c0005t0001g0285a0001c0005t0001g0299a0001c0005t0001g0300others(23): Show | 29 | 382 | 0.0759 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2126_668+2128dupAAA | ||||||
|
chr4:56376105
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(231): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(208): Show | 234 | 382 | 0.6126 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2043G>A | ||||||
|
chr4:56377078
|
A | AAAT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(92): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(81): Show | 95 | 382 | 0.2487 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1069_668+1070insATT | ||||||
|
chr4:56377086
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(221): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0010a0002c0002others(12): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(15): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(199): Show | 224 | 382 | 0.5864 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1061dupT | ||||||
|
chr4:56377101
|
A | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show |
a0002a0008a0012others(2): Show | a0002c0002a0002c0006a0002c0024others(4): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(5): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(83): Show | 97 | 382 | 0.2539 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1047T>A | ||||||
|
chr4:56378653
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show |
a0001a0002a0003others(9): Show | a0001c0005a0001c0010a0002c0002others(12): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(15): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(200): Show | 226 | 382 | 0.5916 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-189T>C | ||||||
|
chr4:56379071
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(228): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0010a0002c0002others(13): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(16): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(205): Show | 231 | 382 | 0.6047 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-607G>A | ||||||
|
chr4:56381649
|
T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp2 others(21): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0003a0006c0009others(2): Show | a0002c0002t0001a0003c0003t0002a0006c0009t0004others(2): Show | a0002c0002t0001g0017a0002c0002t0001g0105a0002c0002t0001g0110others(17): Show | 24 | 382 | 0.0628 | 20 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+827_351+828insTGTGTGTGTGTGTGTGTGAG | ||||||
|
chr4:56381696
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(230): Show |
a0001a0002a0003others(12): Show | a0001c0005a0001c0010a0002c0002others(15): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(18): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(207): Show | 233 | 382 | 0.6100 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+781T>C | ||||||
|
chr4:56382836
|
G | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
a0002a0003a0006others(6): Show | a0002c0002a0002c0006a0002c0024others(8): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(155): Show | 178 | 382 | 0.4660 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-239C>G | ||||||
|
chr4:56382926
|
G | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0006a0008others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-329C>T | ||||||
|
chr4:56383129
|
A | C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(99): Show |
a0002a0003a0006others(5): Show | a0002c0002a0002c0006a0002c0024others(7): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(8): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(87): Show | 102 | 382 | 0.2670 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.231-532T>G | ||||||
|
chr4:56383918
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0010others(19): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(23): Show | a0001c0001t0001g0125a0001c0001t0001g0166a0001c0005t0001g0011others(257): Show | 291 | 382 | 0.7618 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 2/14 | c.230+151_230+152insT | ||||||
|
chr4:56385496
|
A | T | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0002a0017 | a0002c0002a0017c0022 | a0002c0002t0001a0017c0022t0001 | a0002c0002t0001g0017a0002c0002t0001g0018a0002c0002t0001g0019others(23): Show | 29 | 382 | 0.0759 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-42-1155T>A | ||||||
|
chr4:56385779
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(68): Show |
a0001a0002a0015others(1): Show | a0001c0005a0002c0002a0015c0021others(1): Show | a0001c0005t0001a0001c0005t0005a0002c0002t0001others(2): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(62): Show | 71 | 382 | 0.1859 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-42-1439dupA | ||||||
|
chr4:56386712
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(232): Show |
a0001a0002a0003others(11): Show | a0001c0005a0001c0010a0002c0002others(14): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(17): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(209): Show | 235 | 382 | 0.6152 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+650G>C | ||||||
|
chr4:56386775
|
G | A | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(98): Show |
a0002a0006a0008others(4): Show | a0002c0002a0002c0006a0002c0024others(6): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0009a0002c0002t0001g0017others(86): Show | 101 | 382 | 0.2644 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+587C>T |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | a0002 | 1098 | 92 | 16 | 19 | 50 | 2 | 5 | subcellular location copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | c0002 | 3297 | 82 | 16 | 19 | 40 | 2 | 5 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 1/0 | t0001 | 285 | 289 | 51 | 36 | 170 | 10 | 21 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | g0017 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | a0002c0002 | 82 | 16 | 19 | 40 | 2 | 5 | 3297 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | a0002c0002t0001 | 81 | 15 | 19 | 40 | 2 | 5 | 3581 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | a0002c0002t0001g0017 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 56333290 | 56392491 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 56387362 | - | 1 | -0.4698 | -0.4698 | -0.4698 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56384070 | - | 2 | -0.3593 | -0.3593 | -0.3593 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56384341 | - | 2 | 0.2774 | 0.2773 | 0.2774 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56382477 | - | 3 | -0.6328 | -0.6328 | -0.6328 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56382597 | - | 3 | 0.7148 | 0.7148 | 0.7148 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56378148 | - | 4 | -0.6838 | -0.6838 | -0.6838 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56378464 | - | 4 | 0.6822 | 0.6822 | 0.6822 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56371451 | - | 5 | -0.8383 | -0.8383 | -0.8383 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56371643 | - | 5 | 0.8381 | 0.8381 | 0.8381 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56355182 | - | 6 | -0.8989 | -0.8989 | -0.8989 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56355423 | - | 6 | 0.8841 | 0.8841 | 0.8841 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354705 | - | 7 | -0.4833 | -0.4833 | -0.4833 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354811 | - | 7 | 0.6572 | 0.6572 | 0.6572 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354039 | - | 8 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56354211 | - | 8 | 0.9876 | 0.9876 | 0.9876 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56353404 | - | 9 | -0.9932 | -0.9931 | -0.9932 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56353596 | - | 9 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56351342 | - | 10 | -0.7729 | -0.7729 | -0.7729 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56351457 | - | 10 | 0.7958 | 0.7958 | 0.7958 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56349263 | - | 11 | -0.7061 | -0.7061 | -0.7061 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56350058 | - | 11 | 0.9117 | 0.9117 | 0.9117 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56345127 | - | 12 | -0.9753 | -0.9753 | -0.9753 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56345290 | - | 12 | 0.9723 | 0.9722 | 0.9723 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56343562 | - | 13 | -0.7069 | -0.7069 | -0.7069 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56343684 | - | 13 | 0.8963 | 0.8962 | 0.8963 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56342835 | - | 14 | -0.6875 | -0.6875 | -0.6875 | 0.0000 | acceptor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56342966 | - | 14 | 0.7505 | 0.7505 | 0.7505 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| 56338791 | - | 15 | 0.9472 | 0.9472 | 0.9472 | 0.0000 | donor | a0002c0002t0001g0017 | HG01069.hp1 HG01071.hp1 |
HG01069.hp1 HG01071.hp1 |
AASDH | chr4 | 56333290 | 56392491 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|