Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18598307_18598311delinsTTAGA | CA2417972511 | CDKL5 | c.826-155_826-151delinsTTAGA (n.826-155_826-151delinsTTAGA) c.694-155_694-151delinsTTAGA (n.694-155_694-151delinsTTAGA) n.1078-155_1078-151delinsTTAGA | |
X | g.18598311_18598314del | CA873662604 | CDKL5 | c.826-151_826-148del (n.826-151_826-148del) c.694-151_694-148del (n.694-151_694-148del) n.1078-151_1078-148del | dbSNP |
X | g.18598310G>A | CA2693222540 | CDKL5 | c.826-152G>A (n.826-152G>A) c.694-152G>A (n.694-152G>A) n.1078-152G>A | gnomAD v4 |
X | g.18598310G>T | CA2693222539 | CDKL5 | c.826-152G>T (n.826-152G>T) c.694-152G>T (n.694-152G>T) n.1078-152G>T | gnomAD v4 |
X | g.18598312_18598313del | CA2693222545 | CDKL5 | c.826-150_826-149del (n.826-150_826-149del) c.694-150_694-149del (n.694-150_694-149del) n.1078-150_1078-149del | gnomAD v4 |
X | g.18598312T>C | CA2693222546 | CDKL5 | c.826-150T>C (n.826-150T>C) c.694-150T>C (n.694-150T>C) n.1078-150T>C | gnomAD v4 |
X | g.18598312T>G | CA2693222547 | CDKL5 | c.826-150T>G (n.826-150T>G) c.694-150T>G (n.694-150T>G) n.1078-150T>G | gnomAD v4 |
X | g.18598314G>A | CA2417972513 | CDKL5 | c.826-148G>A (n.826-148G>A) c.694-148G>A (n.694-148G>A) n.1078-148G>A | dbSNP gnomAD v4 |
X | g.18598314G= | CA2417972512 | CDKL5 | c.826-148G= (n.826-148G=) c.694-148G= (n.694-148G=) n.1078-148G= | |
X | g.18598314G>T | CA2693222548 | CDKL5 | c.826-148G>T (n.826-148G>T) c.694-148G>T (n.694-148G>T) n.1078-148G>T | gnomAD v4 |
X | g.18598315T>C | CA1131404594 | CDKL5 | c.826-147T>C (n.826-147T>C) c.694-147T>C (n.694-147T>C) n.1078-147T>C | gnomAD v3 gnomAD v4 |
X | g.18598316C>A | CA1131404598 | CDKL5 | c.826-146C>A (n.826-146C>A) c.694-146C>A (n.694-146C>A) n.1078-146C>A | gnomAD v3 gnomAD v4 |
X | g.18598316C= | CA2417972516 | CDKL5 | c.826-146C= (n.826-146C=) c.694-146C= (n.694-146C=) n.1078-146C= | |
X | g.18598316C>T | CA2417972515 | CDKL5 | c.826-146C>T (n.826-146C>T) c.694-146C>T (n.694-146C>T) n.1078-146C>T | dbSNP gnomAD v4 |
X | g.18598316_18598320delinsCTTTT | CA2417972514 | CDKL5 | c.826-146_826-142delinsCTTTT (n.826-146_826-142delinsCTTTT) c.694-146_694-142delinsCTTTT (n.694-146_694-142delinsCTTTT) n.1078-146_1078-142delinsCTTTT | |
X | g.18598317T>C | CA2693222562 | CDKL5 | c.826-145T>C (n.826-145T>C) c.694-145T>C (n.694-145T>C) n.1078-145T>C | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTT | CA2693222587 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTT | CA2693222575 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTTT | CA2693222577 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTTTTT | CA2693222573 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTTTTTT | CA2693222570 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTTTTTTTTT | CA2693222567 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327_18598328insTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2819901334 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
X | g.18598327_18598328insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | CA2693222566 | CDKL5 | c.826-135_826-134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.826-135_826-134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.694-135_694-134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.694-135_694-134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.1078-135_1078-134insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v4 |
X | g.18598327dup | CA640511488 | CDKL5 | c.826-135dup (n.826-135dup) c.694-135dup (n.694-135dup) n.1078-135dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18598326_18598327dup | CA2515519719 | CDKL5 | c.826-136_826-135dup (n.826-136_826-135dup) c.694-136_694-135dup (n.694-136_694-135dup) n.1078-136_1078-135dup | gnomAD v4 |
X | g.18598325_18598327dup | CA2693222581 | CDKL5 | c.826-137_826-135dup (n.826-137_826-135dup) c.694-137_694-135dup (n.694-137_694-135dup) n.1078-137_1078-135dup | gnomAD v4 |
X | g.18598322_18598327dup | CA2693222585 | CDKL5 | c.826-140_826-135dup (n.826-140_826-135dup) c.694-140_694-135dup (n.694-140_694-135dup) n.1078-140_1078-135dup | gnomAD v4 |
X | g.18598320_18598327dup | CA2819901338 | CDKL5 | c.826-142_826-135dup (n.826-142_826-135dup) c.694-142_694-135dup (n.694-142_694-135dup) n.1078-142_1078-135dup | |
X | g.18598318_18598327dup | CA2693222582 | CDKL5 | c.826-144_826-135dup (n.826-144_826-135dup) c.694-144_694-135dup (n.694-144_694-135dup) n.1078-144_1078-135dup | gnomAD v4 |
X | g.18598327del | CA326986866 | CDKL5 | c.826-135del (n.826-135del) c.694-135del (n.694-135del) n.1078-135del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18598326_18598327del | CA640511486 | CDKL5 | c.826-136_826-135del (n.826-136_826-135del) c.694-136_694-135del (n.694-136_694-135del) n.1078-136_1078-135del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18598325_18598327del | CA2819901332 | CDKL5 | c.826-137_826-135del (n.826-137_826-135del) c.694-137_694-135del (n.694-137_694-135del) n.1078-137_1078-135del | |
X | g.18598324_18598327del | CA326986868 | CDKL5 | c.826-138_826-135del (n.826-138_826-135del) c.694-138_694-135del (n.694-138_694-135del) n.1078-138_1078-135del | dbSNP gnomAD v3 gnomAD v4 |
X | g.18598318T>C | CA2693222592 | CDKL5 | c.826-144T>C (n.826-144T>C) c.694-144T>C (n.694-144T>C) n.1078-144T>C | gnomAD v4 |
X | g.18598319T>C | CA2819901343 | CDKL5 | c.826-143T>C (n.826-143T>C) c.694-143T>C (n.694-143T>C) n.1078-143T>C | |
X | g.18598320T>C | CA2417972518 | CDKL5 | c.826-142T>C (n.826-142T>C) c.694-142T>C (n.694-142T>C) n.1078-142T>C | dbSNP |
X | g.18598320T= | CA2417972517 | CDKL5 | c.826-142T= (n.826-142T=) c.694-142T= (n.694-142T=) n.1078-142T= | |
X | g.18598322T>A | CA1131404614 | CDKL5 | c.826-140T>A (n.826-140T>A) c.694-140T>A (n.694-140T>A) n.1078-140T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18598322T>C | CA2591739608 | CDKL5 | c.826-140T>C (n.826-140T>C) c.694-140T>C (n.694-140T>C) n.1078-140T>C | gnomAD v3 gnomAD v4 |
X | g.18598322T= | CA2417972519 | CDKL5 | c.826-140T= (n.826-140T=) c.694-140T= (n.694-140T=) n.1078-140T= | |
X | g.18598325T>A | CA326986870 | CDKL5 | c.826-137T>A (n.826-137T>A) c.694-137T>A (n.694-137T>A) n.1078-137T>A | dbSNP gnomAD v4 |
X | g.18598325T= | CA2417972520 | CDKL5 | c.826-137T= (n.826-137T=) c.694-137T= (n.694-137T=) n.1078-137T= | |
X | g.18598326T>A | CA2693222597 | CDKL5 | c.826-136T>A (n.826-136T>A) c.694-136T>A (n.694-136T>A) n.1078-136T>A | gnomAD v4 |
X | g.18598326_18598327insA | CA2693222598 | CDKL5 | c.826-136_826-135insA (n.826-136_826-135insA) c.694-136_694-135insA (n.694-136_694-135insA) n.1078-136_1078-135insA | gnomAD v4 |
X | g.18598327T>A | CA873662616 | CDKL5 | c.826-135T>A (n.826-135T>A) c.694-135T>A (n.694-135T>A) n.1078-135T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18598327T= | CA2417972521 | CDKL5 | c.826-135T= (n.826-135T=) c.694-135T= (n.694-135T=) n.1078-135T= | |
X | g.18598328del | CA2693222600 | CDKL5 | c.826-134del (n.826-134del) c.694-134del (n.694-134del) n.1078-134del | gnomAD v4 |
X | g.18598328A= | CA2417972522 | CDKL5 | c.826-134A= (n.826-134A=) c.694-134A= (n.694-134A=) n.1078-134A= | |
X | g.18598328A>T | CA326986872 | CDKL5 | c.826-134A>T (n.826-134A>T) c.694-134A>T (n.694-134A>T) n.1078-134A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |