KIT, KIT proto-oncogene, receptor tyrosine kinase, 3815
N. diseases: 715; N. variants: 92
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 54727501 | inframe deletion | GAT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2015 | ||||||||||
|
4 | 54733175 | missense variant | T/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2007 | 2013 | ||||||||||
|
4 | 54727909 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1995 | 2007 | ||||||||||
|
1.000 | 4 | 54727438 | stop gained | G/A;C | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
4 | 54727447 | missense variant | TT/AA | mnv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
4 | 54727438 | missense variant | GG/TT | mnv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||||
|
4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
4 | 54733162 | frameshift variant | G/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727414 | splice region variant | AAACCCATGTATGAAGTACAGTGGAAG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54695552 | frameshift variant | -/T | ins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54699760 | frameshift variant | TCAG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54698334 | frameshift variant | A/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727420 | inframe deletion | CCATGTATGAAGTACAGTGGA/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727421 | protein altering variant | CATGTATG/AA | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727433 | protein altering variant | ACAGTGGA/CC | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727436 | frameshift variant | GTGGAAGGTTGTTGAGGAG/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727444 | inframe deletion | TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727482 | protein altering variant | -/ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727488 | protein altering variant | -/CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727489 | inframe insertion | -/ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54731338 | frameshift variant | AC/- | del |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727418 | inframe deletion | CCATGTATGAAGTAC/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
4 | 54727435 | inframe deletion | TGGAAG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.730 | 0.900 | 10 | 2005 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2007 | 2011 |