Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 3 | 37047639 | frameshift variant | AA/A;AAA;G | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37001014 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37007000 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 3 | 37025668 | frameshift variant | GAGATGG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37025639 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37050517 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37025644 | stop gained | -/A | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37048557 | frameshift variant | -/TGTGCCCC | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 36993553 | frameshift variant | CGTGGCAGGGGTT/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.080 | 3 | 37001028 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 3 | 37011825 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 37008892 | stop gained | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||||
|
2 | 3 | 37025913 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||||
|
2 | 3 | 37047578 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 3 | 37020335 | missense variant | G/C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||||
|
1 | 3 | 36996697 | frameshift variant | C/ATCTT | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37007013 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.080 | 3 | 37012011 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 3 | 37014489 | stop gained | C/A;G | snv | 0.700 | 0 | ||||||||||
|
1 | 3 | 37017511 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||||
|
1 | 3 | 37017546 | frameshift variant | -/CA | delins | 0.700 | 0 | ||||||||||
|
1 | 3 | 37020365 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||||
|
1 | 3 | 37020436 | frameshift variant | CAAT/AATGTGCA | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 3 | 37020444 | splice donor variant | ATGTACTTCACCCAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 3 | 37025859 | frameshift variant | A/TAT | delins | 0.700 | 0 |