| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56378269
|
GTTC | G | 0.0209 | conservative_inframe_deletion | MODERATE | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | -3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/15 | c.544_546delGAA | p.Glu182del | 718/3581 | 544/3297 | 182/1098 |
| 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 | ||
|
chr4:56353429
|
G | A | 0.0209 | synonymous_variant | LOW | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/15 | c.1551C>T | p.Ile517Ile | 1723/3581 | 1551/3297 | 517/1098 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56338329
|
G | A | 0.0209 | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 15/15 | c.*73C>T | 73 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:56339622
|
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 | ||||||
|
chr4:56339668
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(188): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(169): Show | 191 | 382 | 0.5000 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-877A>G | ||||||
|
chr4:56339748
|
C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(143): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0242a0001c0005t0001g0299others(128): Show | 146 | 382 | 0.3822 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-960_2908-958dupTTT | ||||||
|
chr4:56339830
|
A | AAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0005a0001c0010others(10): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(168): Show | 190 | 382 | 0.4974 | 2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-1041_2908-1040dupCT | ||||||
|
chr4:56340226
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-1435G>A | ||||||
|
chr4:56340608
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2908-1817G>A | ||||||
|
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 | ||||||
|
chr4:56341178
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1657T>C | ||||||
|
chr4:56341389
|
C | CTTT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02148.hp2 others(5): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0003 | a0002c0002t0001g0180a0005c0007t0003g0033a0005c0007t0003g0034others(5): Show | 8 | 382 | 0.0209 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1443_2907+1445dupAAA | ||||||
|
chr4:56341446
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1389C>T | ||||||
|
chr4:56341559
|
AT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+1275delA | ||||||
|
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 | ||||||
|
chr4:56342043
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+792G>A | ||||||
|
chr4:56342110
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(62): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(7): Show | a0001c0001t0001g0068a0001c0001t0001g0080a0001c0001t0001g0125others(53): Show | 65 | 382 | 0.1702 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+724dupT | ||||||
|
chr4:56342165
|
TAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 14/14 | c.2907+668_2907+669delTT | ||||||
|
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 | ||||||
|
chr4:56343359
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+203T>G | ||||||
|
chr4:56343363
|
T | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+199A>T | ||||||
|
chr4:56343365
|
C | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+197G>T | ||||||
|
chr4:56343369
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 13/14 | c.2775+193A>G | ||||||
|
chr4:56344159
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2653-475A>G | ||||||
|
chr4:56344170
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2653-486C>G | ||||||
|
chr4:56344343
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2653-659G>A | ||||||
|
chr4:56344600
|
C | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2652+527G>C | ||||||
|
chr4:56344940
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(11): Show | a0001c0001t0001g0054a0001c0001t0001g0057a0001c0005t0001g0011others(113): Show | 127 | 382 | 0.3325 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 12/14 | c.2652+186delA | ||||||
|
chr4:56346849
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2489-1559G>A | ||||||
|
chr4:56347026
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2489-1736C>T | ||||||
|
chr4:56347040
|
T | TA | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG01884.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0157a0001c0001t0001g0166a0001c0010t0001g0280others(15): Show | 18 | 382 | 0.0471 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2489-1751dupT | ||||||
|
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 | ||||||
|
chr4:56347903
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1360T>G | ||||||
|
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 | ||||||
|
chr4:56348258
|
C | CT | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0007 | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(1): Show | a0002c0002t0001g0226a0002c0002t0001g0235a0003c0003t0001g0220others(11): Show | 14 | 382 | 0.0367 | 1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+1004dupA | ||||||
|
chr4:56348506
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+757A>G | ||||||
|
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 | ||||||
|
chr4:56348933
|
G | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+330C>A | ||||||
|
chr4:56349221
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 11/14 | c.2488+42A>G | ||||||
|
chr4:56350373
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1693-315C>T | ||||||
|
chr4:56350456
|
A | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1693-398T>A | ||||||
|
chr4:56351057
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(6): Show |
a0005a0016 | a0005c0007a0016c0018 | a0005c0007t0003a0016c0018t0001 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(6): Show | 9 | 382 | 0.0236 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+285C>T | ||||||
|
chr4:56351174
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 10/14 | c.1692+168A>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 | ||||||
|
chr4:56351917
|
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 | ||||||
|
chr4:56353009
|
CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0007 | a0001c0001t0001a0001c0005t0001a0005c0007t0003 | a0001c0001t0001g0065a0001c0005t0001g0318a0005c0007t0003g0033others(7): Show | 10 | 382 | 0.0262 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+394delA | ||||||
|
chr4:56353250
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+154T>C | ||||||
|
chr4:56353263
|
G | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 9/14 | c.1576+141C>A | ||||||
|
chr4:56354827
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 6/14 | c.1104-16T>G | ||||||
|
chr4:56354918
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 6/14 | c.1104-107G>A | ||||||
|
chr4:56355593
|
GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(117): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(12): Show | a0001c0001t0001g0090a0001c0005t0001g0011a0001c0005t0001g0028others(106): Show | 120 | 382 | 0.3141 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-171delA | ||||||
|
chr4:56355596
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-173A>C | ||||||
|
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 | ||||||
|
chr4:56355932
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-509T>G | ||||||
|
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 | ||||||
|
chr4:56356345
|
T | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-922A>T | ||||||
|
chr4:56356463
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-1040T>G | ||||||
|
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 | ||||||
|
chr4:56358353
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-2930T>C | ||||||
|
chr4:56359007
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-3584G>A | ||||||
|
chr4:56359507
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4084C>G | ||||||
|
chr4:56359535
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4112C>T | ||||||
|
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 | ||||||
|
chr4:56359748
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4325T>C | ||||||
|
chr4:56360338
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-4915C>G | ||||||
|
chr4:56360692
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-5269G>A | ||||||
|
chr4:56361504
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-6081G>A | ||||||
|
chr4:56361555
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-6132A>G | ||||||
|
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 | ||||||
|
chr4:56363151
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-7728G>A | ||||||
|
chr4:56363419
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.862-7996A>G | ||||||
|
chr4:56363499
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7952C>T | ||||||
|
chr4:56363791
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
a0001a0003a0005others(4): Show | a0001c0005a0001c0010a0003c0003others(5): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(6): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(119): Show | 133 | 382 | 0.3482 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7660C>G | ||||||
|
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 | ||||||
|
chr4:56363925
|
A | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7526T>A | ||||||
|
chr4:56364242
|
T | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+7209A>T | ||||||
|
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 | ||||||
|
chr4:56364718
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6733A>C | ||||||
|
chr4:56364972
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6479A>G | ||||||
|
chr4:56365198
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6253C>T | ||||||
|
chr4:56365226
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6225A>C | ||||||
|
chr4:56365300
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+6151C>G | ||||||
|
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 | ||||||
|
chr4:56365708
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5743C>T | ||||||
|
chr4:56365825
|
C | G | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5626G>C | ||||||
|
chr4:56366237
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(53): Show |
a0001a0005a0007others(2): Show | a0001c0005a0001c0010a0005c0007others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(4): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(50): Show | 56 | 382 | 0.1466 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5214C>G | ||||||
|
chr4:56366398
|
C | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+5053G>C | ||||||
|
chr4:56367040
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4411T>C | ||||||
|
chr4:56367272
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+4179G>A | ||||||
|
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 | ||||||
|
chr4:56368061
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3390A>G | ||||||
|
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 | ||||||
|
chr4:56368264
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+3187C>G | ||||||
|
chr4:56368733
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2718C>G | ||||||
|
chr4:56368808
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2643C>G | ||||||
|
chr4:56368897
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2554A>G | ||||||
|
chr4:56368978
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+2473G>A | ||||||
|
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 | ||||||
|
chr4:56370165
|
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 | ||||||
|
chr4:56370181
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+1270C>G | ||||||
|
chr4:56370531
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+920C>T | ||||||
|
chr4:56370567
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | c.861+884T>C | ||||||
|
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 | ||||||
|
chr4:56372752
|
TATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-1112_669-1110delTAT | ||||||
|
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 | ||||||
|
chr4:56373459
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(53): Show |
a0001a0005a0007others(2): Show | a0001c0005a0001c0010a0005c0007others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(4): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(50): Show | 56 | 382 | 0.1466 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-1816C>T | ||||||
|
chr4:56373614
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-1971G>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
|
C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG03139.hp1 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0036others(2): Show | 5 | 382 | 0.0131 | 7 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2725_669-2724insTTTTTTT | ||||||
|
chr4:56374369
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(190): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0005others(14): Show | a0001c0001t0001g0166a0001c0005t0001g0011a0001c0005t0001g0028others(171): Show | 193 | 382 | 0.5052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2726C>T | ||||||
|
chr4:56374606
|
AT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.669-2964delA | ||||||
|
chr4:56375611
|
G | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0003 | a0002c0002t0001g0226a0002c0002t0001g0235a0005c0007t0003g0033others(7): Show | 10 | 382 | 0.0262 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2537C>T | ||||||
|
chr4:56376019
|
CT | C | intron_variant | MODIFIER | HG01109.hp2 HG01515.hp2 HG01517.hp2 others(22): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0066a0001c0001t0001g0093a0001c0001t0001g0096others(22): Show | 25 | 382 | 0.0655 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+2128delA | ||||||
|
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 | ||||||
|
chr4:56376216
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1932C>G | ||||||
|
chr4:56376416
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1732A>C | ||||||
|
chr4:56376538
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1610A>G | ||||||
|
chr4:56376794
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1354T>C | ||||||
|
chr4:56377066
|
CAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1080_668+1081delTT | ||||||
|
chr4:56377090
|
TA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+1057delT | ||||||
|
chr4:56377578
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+570A>G | ||||||
|
chr4:56377949
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG03041.hp1 others(4): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(4): Show | 7 | 382 | 0.0183 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+199G>A | ||||||
|
chr4:56378052
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | c.668+96G>A | ||||||
|
chr4:56378653
|
A | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-189T>G | ||||||
|
chr4:56378785
|
GT | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-322delA | ||||||
|
chr4:56378889
|
A | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-425T>A | ||||||
|
chr4:56378890
|
T | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-426A>T | ||||||
|
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 | ||||||
|
chr4:56379532
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-1068T>C | ||||||
|
chr4:56379801
|
T | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.352-1337A>G | ||||||
|
chr4:56381157
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+1320G>A | ||||||
|
chr4:56381584
|
C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(43): Show |
a0001a0005a0007others(2): Show | a0001c0005a0001c0010a0005c0007others(3): Show | a0001c0005t0001a0001c0005t0005a0001c0010t0001others(4): Show | a0001c0005t0001g0011a0001c0005t0001g0028a0001c0005t0001g0032others(40): Show | 46 | 382 | 0.1204 | 2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+891_351+892dupTT | ||||||
|
chr4:56381649
|
T | TCTCTCAC others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 | 1 | 382 | 0.0026 | 12 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+827_351+828insTGTGTGTGAGAG | ||||||
|
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 | ||||||
|
chr4:56381976
|
G | GTC | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 2 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+499_351+500dupGA | ||||||
|
chr4:56382253
|
G | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+224C>A | ||||||
|
chr4:56382254
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | c.351+223G>A | ||||||
|
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 | ||||||
|
chr4:56384657
|
TA | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | -1 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-42-317delT | ||||||
|
chr4:56385027
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-42-686G>A | ||||||
|
chr4:56385948
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+1414T>C | ||||||
|
chr4:56386143
|
T | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+1219A>C | ||||||
|
chr4:56386332
|
C | T | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+1030G>A | ||||||
|
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 | ||||||
|
chr4:56386720
|
G | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+642C>G | ||||||
|
chr4:56386799
|
C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02630.hp1 others(5): Show |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0002a0005c0007t0003 | a0003c0003t0002g0238a0003c0003t0002g0239a0005c0007t0003g0033others(5): Show | 8 | 382 | 0.0209 | 3 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+560_-43+562dupTTT | ||||||
|
chr4:56386823
|
G | T | intron_variant | MODIFIER | HG01884.hp1 HG03225.hp1 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034 | 2 | 382 | 0.0052 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+539C>A | ||||||
|
chr4:56386825
|
A | G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02630.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033a0005c0007t0003g0034a0005c0007t0003g0035others(5): Show | 8 | 382 | 0.0209 | 0 | AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | c.-43+537T>C |
| 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 | a0005 | 1097 | 8 | 8 | 0 | 0 | 0 | 0 | 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 | c0007 | 3294 | 8 | 8 | 0 | 0 | 0 | 0 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | t0003 | 285 | 8 | 8 | 0 | 0 | 0 | 0 | copy fasta | chr4 | 56333290 | 56392491 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDH | 0/0 | g0033 | 1 | 1 | 0 | 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 | a0005c0007 | 8 | 8 | 0 | 0 | 0 | 0 | 3294 | 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 | a0005c0007t0003 | 8 | 8 | 0 | 0 | 0 | 0 | 3578 | 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 | a0005c0007t0003g0033 | 1 | 1 | 0 | 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 | -0.4663 | -0.4663 | -0.4663 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56384070 | - | 2 | -0.4164 | -0.4164 | -0.4164 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56384341 | - | 2 | 0.2552 | 0.2552 | 0.2552 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56382477 | - | 3 | -0.6256 | -0.6256 | -0.6256 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56382597 | - | 3 | 0.6894 | 0.6894 | 0.6894 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56378148 | - | 4 | -0.6703 | -0.6703 | -0.6703 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56378464 | - | 4 | 0.6157 | 0.6157 | 0.6157 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56371451 | - | 5 | -0.8363 | -0.8363 | -0.8363 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56371643 | - | 5 | 0.8383 | 0.8383 | 0.8383 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56355182 | - | 6 | -0.8977 | -0.8977 | -0.8977 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56355423 | - | 6 | 0.8620 | 0.8620 | 0.8620 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56354705 | - | 7 | -0.0999 | -0.0999 | -0.0999 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56354811 | - | 7 | 0.1829 | 0.1829 | 0.1829 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56354039 | - | 8 | -0.9897 | -0.9897 | -0.9897 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56354211 | - | 8 | 0.9877 | 0.9877 | 0.9877 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56353404 | - | 9 | -0.9890 | -0.9889 | -0.9890 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56353596 | - | 9 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56351342 | - | 10 | -0.7761 | -0.7761 | -0.7761 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56351457 | - | 10 | 0.7644 | 0.7644 | 0.7644 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56349263 | - | 11 | -0.6645 | -0.6645 | -0.6645 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56350058 | - | 11 | 0.8968 | 0.8968 | 0.8968 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56345127 | - | 12 | -0.9851 | -0.9851 | -0.9851 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56345290 | - | 12 | 0.9479 | 0.9479 | 0.9479 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56343562 | - | 13 | -0.6515 | -0.6515 | -0.6515 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56343684 | - | 13 | 0.8699 | 0.8699 | 0.8699 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56342835 | - | 14 | -0.7029 | -0.7029 | -0.7029 | 0.0000 | acceptor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56342966 | - | 14 | 0.7016 | 0.7016 | 0.7016 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.hp1 | AASDH | chr4 | 56333290 | 56392491 |
| 56338791 | - | 15 | 0.9242 | 0.9242 | 0.9242 | 0.0000 | donor | a0005c0007t0003g0033 | HG01884.hp1 | HG01884.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 |
|---|