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 | 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 | |||||||||||||
|
0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | 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 | |||||||||||||
|
4 | 54727909 | missense variant | G/A | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 1995 | 2007 | ||||||||||
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0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.850 | 1.000 | 16 | 1998 | 2017 | ||||||||
|
4 | 54727501 | inframe deletion | GAT/- | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2015 | ||||||||||
|
0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.730 | 1.000 | 9 | 1999 | 2018 | ||||||||
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0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.740 | 0.875 | 8 | 1999 | 2016 | ||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.760 | 1.000 | 8 | 2001 | 2014 | ||||||||
|
1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.750 | 1.000 | 12 | 2004 | 2019 | |||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2004 | 2013 |