CACNA1A, calcium voltage-gated channel subunit alpha1 A, 773
N. diseases: 320; N. variants: 106
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv |
|
0.800 | 1.000 | 3 | 2013 | 2016 | |||||||||
|
1.000 | 19 | 13455205 | missense variant | C/G | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
1.000 | 19 | 13257421 | missense variant | C/A | snv |
|
0.800 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv |
|
0.700 | 1.000 | 8 | 1996 | 2017 | |||||||||
|
0.925 | 0.120 | 19 | 13245181 | splice donor variant | C/A | snv |
|
0.700 | 1.000 | 5 | 1999 | 2016 | |||||||||
|
0.851 | 0.160 | 19 | 13235693 | missense variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2006 | 2017 | |||||||||
|
0.925 | 0.120 | 19 | 13262790 | stop gained | G/A | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 19 | 13231850 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 19 | 13228767 | stop gained | GT/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 19 | 13231717 | missense variant | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.851 | 0.160 | 19 | 13255217 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13335805 | splice donor variant | C/T | snv | 4.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 19 | 13257514 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13298704 | frameshift variant | GCTCCGCCTTGTCCTCCGGACCCTCC/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13298878 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13299314 | frameshift variant | CAC/GT | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13300638 | stop gained | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 19 | 13303574 | missense variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 19 | 13303832 | frameshift variant | T/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13308496 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13317146 | frameshift variant | AACAATAGCAACACACAGCGTG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13317228 | frameshift variant | C/- | del |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13259661 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 19 | 13317198 | stop gained | C/T | snv |
|
0.700 | 0 |