| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48688623A= | CA2428355606 | WAS | n.176-37A= c.932-37A= (n.932-37A=) c.931+170A= (n.931+170A=) | |
| X | g.48688623A>G | CA10404010 | WAS | n.176-37A>G c.932-37A>G (n.932-37A>G) c.931+170A>G (n.931+170A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688624_48688626delinsTGA | CA2428355607 | WAS | n.176-36_176-34delinsTGA c.932-36_932-34delinsTGA (n.932-36_932-34delinsTGA) c.931+171_931+173delinsTGA (n.931+171_931+173delinsTGA) | |
| X | g.48688625G>A | CA641901721 | WAS | n.176-35G>A c.932-35G>A (n.932-35G>A) c.931+172G>A (n.931+172G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688625G>C | CA10404011 | WAS | n.176-35G>C c.932-35G>C (n.932-35G>C) c.931+172G>C (n.931+172G>C) | dbSNP ExAC gnomAD v2 |
| X | g.48688625G= | CA2428355608 | WAS | n.176-35G= c.932-35G= (n.932-35G=) c.931+172G= (n.931+172G=) | |
| X | g.48688628_48688629del | CA920409718 | WAS | n.176-32_176-31del c.932-32_932-31del (n.932-32_932-31del) c.931+175_931+176del (n.931+175_931+176del) | dbSNP gnomAD v4 |
| X | g.48688626A>G | CA2693644449 | WAS | n.176-34A>G c.932-34A>G (n.932-34A>G) c.931+173A>G (n.931+173A>G) | gnomAD v4 |
| X | g.48688627G>A | CA10404012 | WAS | n.176-33G>A c.932-33G>A (n.932-33G>A) c.931+174G>A (n.931+174G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688627G= | CA2428355609 | WAS | n.176-33G= c.932-33G= (n.932-33G=) c.931+174G= (n.931+174G=) | |
| X | g.48688629G>A | CA875916703 | WAS | n.176-31G>A c.932-31G>A (n.932-31G>A) c.931+176G>A (n.931+176G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688629G= | CA2428355610 | WAS | n.176-31G= c.932-31G= (n.932-31G=) c.931+176G= (n.931+176G=) | |
| X | g.48688629G>T | CA2428355611 | WAS | n.176-31G>T c.932-31G>T (n.932-31G>T) c.931+176G>T (n.931+176G>T) | dbSNP |
| X | g.48688632_48688633insAA | CA2693644453 | WAS | n.176-28_176-27insAA c.932-28_932-27insAA (n.932-28_932-27insAA) c.931+179_931+180insAA (n.931+179_931+180insAA) | gnomAD v4 |
| X | g.48688633C>A | CA10404013 | WAS | n.176-27C>A c.932-27C>A (n.932-27C>A) c.931+180C>A (n.931+180C>A) | dbSNP ExAC gnomAD v4 |
| X | g.48688633C= | CA2428355612 | WAS | n.176-27C= c.932-27C= (n.932-27C=) c.931+180C= (n.931+180C=) | |
| X | g.48688633C>G | CA2693644456 | WAS | n.176-27C>G c.932-27C>G (n.932-27C>G) c.931+180C>G (n.931+180C>G) | gnomAD v4 |
| X | g.48688633C>T | CA10404014 | WAS | n.176-27C>T c.932-27C>T (n.932-27C>T) c.931+180C>T (n.931+180C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688638A= | CA2428355614 | WAS | n.176-22A= c.932-22A= (n.932-22A=) c.932-178A= (n.932-178A=) | |
| X | g.48688638A>C | CA875916709 | WAS | n.176-22A>C c.932-22A>C (n.932-22A>C) c.932-178A>C (n.932-178A>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688638_48688640delinsATG | CA2428355613 | WAS | n.176-22_176-20delinsATG c.932-22_932-20delinsATG (n.932-22_932-20delinsATG) c.932-178_932-176delinsATG (n.932-178_932-176delinsATG) | |
| X | g.48688639T>C | CA2428355616 | WAS | n.176-21T>C c.932-21T>C (n.932-21T>C) c.932-177T>C (n.932-177T>C) | dbSNP gnomAD v4 |
| X | g.48688639T= | CA2428355615 | WAS | n.176-21T= c.932-21T= (n.932-21T=) c.932-177T= (n.932-177T=) | |
| X | g.48688642_48688643del | CA875916710 | WAS | n.176-18_176-17del c.932-18_932-17del (n.932-18_932-17del) c.932-174_932-173del (n.932-174_932-173del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688643T>A | CA329102074 | WAS | n.176-17T>A c.932-17T>A (n.932-17T>A) c.932-173T>A (n.932-173T>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688643T= | CA2428355617 | WAS | n.176-17T= c.932-17T= (n.932-17T=) c.932-173T= (n.932-173T=) | |
| X | g.48688645A>G | CA2693644458 | WAS | n.176-15A>G c.932-15A>G (n.932-15A>G) c.932-171A>G (n.932-171A>G) | ClinVar gnomAD v4 |
| X | g.48688646T>C | CA2820813167 | WAS | n.176-14T>C c.932-14T>C (n.932-14T>C) c.932-170T>C (n.932-170T>C) | |
| X | g.48688647A= | CA2428355618 | WAS | n.176-13A= c.932-13A= (n.932-13A=) c.932-169A= (n.932-169A=) | |
| X | g.48688647A>C | CA2428355619 | WAS | n.176-13A>C c.932-13A>C (n.932-13A>C) c.932-169A>C (n.932-169A>C) | dbSNP gnomAD v4 |
| X | g.48688648C>A | CA2428355620 | WAS | n.176-12C>A c.932-12C>A (n.932-12C>A) c.932-168C>A (n.932-168C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.48688648C= | CA2428355621 | WAS | n.176-12C= c.932-12C= (n.932-12C=) c.932-168C= (n.932-168C=) | |
| X | g.48688648C>T | CA641901722 | WAS | n.176-12C>T c.932-12C>T (n.932-12C>T) c.932-168C>T (n.932-168C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688651_48688652dup | CA875916711 | WAS | n.176-9_176-8dup c.932-9_932-8dup (n.932-9_932-8dup) c.932-165_932-164dup (n.932-165_932-164dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688652del | CA2579600715 | WAS | n.176-8del c.932-8del (n.932-8del) c.932-164del (n.932-164del) | |
| X | g.48688649C>A | CA2693644460 | WAS | n.176-11C>A c.932-11C>A (n.932-11C>A) c.932-167C>A (n.932-167C>A) | gnomAD v4 |
| X | g.48688650C>A | CA10404015 | WAS | n.176-10C>A c.932-10C>A (n.932-10C>A) c.932-166C>A (n.932-166C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688650C= | CA2428355622 | WAS | n.176-10C= c.932-10C= (n.932-10C=) c.932-166C= (n.932-166C=) | |
| X | g.48688650C>T | CA10404016 | WAS | n.176-10C>T c.932-10C>T (n.932-10C>T) c.932-166C>T (n.932-166C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688651C>A | CA2693644463 | WAS | n.176-9C>A c.932-9C>A (n.932-9C>A) c.932-165C>A (n.932-165C>A) | ClinVar gnomAD v4 |
| X | g.48688651C= | CA2428355623 | WAS | n.176-9C= c.932-9C= (n.932-9C=) c.932-165C= (n.932-165C=) | |
| X | g.48688651C>T | CA2428355624 | WAS | n.176-9C>T c.932-9C>T (n.932-9C>T) c.932-165C>T (n.932-165C>T) | dbSNP |
| X | g.48688652C>A | CA2579600716 | WAS | n.176-8C>A c.932-8C>A (n.932-8C>A) c.932-164C>A (n.932-164C>A) | gnomAD v4 |
| X | g.48688652C= | CA2428355625 | WAS | n.176-8C= c.932-8C= (n.932-8C=) c.932-164C= (n.932-164C=) | |
| X | g.48688652C>T | CA10404017 | WAS | n.176-8C>T c.932-8C>T (n.932-8C>T) c.932-164C>T (n.932-164C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688653del | CA2820813169 | WAS | n.176-7del c.932-7del (n.932-7del) c.932-163del (n.932-163del) | |
| X | g.48688653T>C | CA2693644465 | WAS | n.176-7T>C c.932-7T>C (n.932-7T>C) c.932-163T>C (n.932-163T>C) | gnomAD v4 |
| X | g.48688654C>A | CA2693644467 | WAS | n.176-6C>A c.932-6C>A (n.932-6C>A) c.932-162C>A (n.932-162C>A) | gnomAD v4 |
| X | g.48688654C>T | CA2693644468 | WAS | n.176-6C>T c.932-6C>T (n.932-6C>T) c.932-162C>T (n.932-162C>T) | dbSNP gnomAD v4 |
| X | g.48688655C= | CA2428355626 | WAS | n.176-5C= c.932-5C= (n.932-5C=) c.932-161C= (n.932-161C=) | |
| X | g.48688655C>T | CA2428355627 | WAS | n.176-5C>T c.932-5C>T (n.932-5C>T) c.932-161C>T (n.932-161C>T) | ClinVar dbSNP |
| X | g.48688656A= | CA2428355628 | WAS | n.176-4A= c.932-4A= (n.932-4A=) c.932-160A= (n.932-160A=) | |
| X | g.48688656A>G | CA875916717 | WAS | n.176-4A>G c.932-4A>G (n.932-4A>G) c.932-160A>G (n.932-160A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688658A>C | CA412872627 | WAS | n.176-2A>C c.932-2A>C (n.932-2A>C) c.932-158A>C (n.932-158A>C) | |
| X | g.48688658A>G | CA412872628 | WAS | n.176-2A>G c.932-2A>G (n.932-2A>G) c.932-158A>G (n.932-158A>G) | |
| X | g.48688658A>T | CA412872630 | WAS | n.176-2A>T c.932-2A>T (n.932-2A>T) c.932-158A>T (n.932-158A>T) | |
| X | g.48688659G>A | CA412872632 | WAS | n.176-1G>A c.932-1G>A (n.932-1G>A) c.932-157G>A (n.932-157G>A) | |
| X | g.48688659G>C | CA412872634 | WAS | n.176-1G>C c.932-1G>C (n.932-1G>C) c.932-157G>C (n.932-157G>C) | |
| X | g.48688659G>T | CA412872636 | WAS | n.176-1G>T c.932-1G>T (n.932-1G>T) c.932-157G>T (n.932-157G>T) | dbSNP |
| X | g.48688660A>C | CA412872639 | WAS | n.176A>C c.932A>C (p.Glu311Ala) c.932-156A>C (n.932-156A>C) | |
| X | g.48688660A>G | CA412872640 | WAS | n.176A>G c.932A>G (p.Glu311Gly) c.932-156A>G (n.932-156A>G) | |
| X | g.48688660A>T | CA412872642 | WAS | n.176A>T c.932A>T (p.Glu311Val) c.932-156A>T (n.932-156A>T) | |
| X | g.48688661G>A | CA10404018 | WAS | n.177G>A c.933G>A (p.Glu311=) c.932-155G>A (n.932-155G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688661G>C | CA412872644 | WAS | n.177G>C c.933G>C (p.Glu311Asp) c.932-155G>C (n.932-155G>C) | |
| X | g.48688661G= | CA2428355629 | WAS | n.177G= c.933G= (p.Glu311=) c.932-155G= (n.932-155G=) | |
| X | g.48688661G>T | CA412872646 | WAS | n.177G>T c.933G>T (p.Glu311Asp) c.932-155G>T (n.932-155G>T) | |
| X | g.48688662C>A | CA412872652 | WAS | n.178C>A c.934C>A (p.Pro312Thr) c.932-154C>A (n.932-154C>A) | |
| X | g.48688662C>G | CA412872648 | WAS | n.178C>G c.934C>G (p.Pro312Ala) c.932-154C>G (n.932-154C>G) | |
| X | g.48688662C>T | CA412872650 | WAS | n.178C>T c.934C>T (p.Pro312Ser) c.932-154C>T (n.932-154C>T) | |
| X | g.48688663C>A | CA412872654 | WAS | n.179C>A c.935C>A (p.Pro312Gln) c.932-153C>A (n.932-153C>A) | |
| X | g.48688663C>G | CA412872656 | WAS | n.179C>G c.935C>G (p.Pro312Arg) c.932-153C>G (n.932-153C>G) | |
| X | g.48688663C>T | CA412872657 | WAS | n.179C>T c.935C>T (p.Pro312Leu) c.932-153C>T (n.932-153C>T) | |
| X | g.48688664A>C | CA516356176 | WAS | n.180A>C c.936A>C (p.Pro312=) c.932-152A>C (n.932-152A>C) | |
| X | g.48688664A>G | CA516356177 | WAS | n.180A>G c.936A>G (p.Pro312=) c.932-152A>G (n.932-152A>G) | |
| X | g.48688664A>T | CA516356178 | WAS | n.180A>T c.936A>T (p.Pro312=) c.932-152A>T (n.932-152A>T) | |
| X | g.48688665C>A | CA412872660 | WAS | n.181C>A c.937C>A (p.Leu313Ile) c.932-151C>A (n.932-151C>A) | |
| X | g.48688665C>G | CA412872662 | WAS | n.181C>G c.937C>G (p.Leu313Val) c.932-151C>G (n.932-151C>G) | |
| X | g.48688665C>T | CA412872664 | WAS | n.181C>T c.937C>T (p.Leu313Phe) c.932-151C>T (n.932-151C>T) | |
| X | g.48688666T>A | CA412872667 | WAS | n.182T>A c.938T>A (p.Leu313His) c.932-150T>A (n.932-150T>A) | |
| X | g.48688666T>C | CA412872668 | WAS | n.182T>C c.938T>C (p.Leu313Pro) c.932-150T>C (n.932-150T>C) | |
| X | g.48688666T>G | CA412872671 | WAS | n.182T>G c.938T>G (p.Leu313Arg) c.932-150T>G (n.932-150T>G) | |
| X | g.48688667T>A | CA516356181 | WAS | n.183T>A c.939T>A (p.Leu313=) c.932-149T>A (n.932-149T>A) | |
| X | g.48688667T>C | CA516356180 | WAS | n.183T>C c.939T>C (p.Leu313=) c.932-149T>C (n.932-149T>C) | |
| X | g.48688667T>G | CA516356179 | WAS | n.183T>G c.939T>G (p.Leu313=) c.932-149T>G (n.932-149T>G) | |
| X | g.48688668C>A | CA412872673 | WAS | n.184C>A c.940C>A (p.Pro314Thr) c.932-148C>A (n.932-148C>A) | |
| X | g.48688668C>G | CA412872674 | WAS | n.184C>G c.940C>G (p.Pro314Ala) c.932-148C>G (n.932-148C>G) | |
| X | g.48688668C>T | CA412872676 | WAS | n.184C>T c.940C>T (p.Pro314Ser) c.932-148C>T (n.932-148C>T) | |
| X | g.48688669del | CA2695234062 | WAS | n.185del c.941del (p.Pro314ArgfsTer?) c.932-147del (n.932-147del) | |
| X | g.48688669C>A | CA412872678 | WAS | n.185C>A c.941C>A (p.Pro314Gln) c.932-147C>A (n.932-147C>A) | |
| X | g.48688669C= | CA2428355630 | WAS | n.185C= c.941C= (p.Pro314=) c.932-147C= (n.932-147C=) | |
| X | g.48688669C>G | CA412872680 | WAS | n.185C>G c.941C>G (p.Pro314Arg) c.932-147C>G (n.932-147C>G) | |
| X | g.48688669C>T | CA10404019 | WAS | n.185C>T c.941C>T (p.Pro314Leu) c.932-147C>T (n.932-147C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688670G>A | CA516356182 | WAS | n.186G>A c.942G>A (p.Pro314=) c.932-146G>A (n.932-146G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688670G>C | CA516356183 | WAS | n.186G>C c.942G>C (p.Pro314=) c.932-146G>C (n.932-146G>C) | |
| X | g.48688670G= | CA2428355631 | WAS | n.186G= c.942G= (p.Pro314=) c.932-146G= (n.932-146G=) | |
| X | g.48688670G>T | CA516356184 | WAS | n.186G>T c.942G>T (p.Pro314=) c.932-146G>T (n.932-146G>T) | |
| X | g.48688671C>A | CA412872683 | WAS | n.187C>A c.943C>A (p.Pro315Thr) c.932-145C>A (n.932-145C>A) | gnomAD v4 |
| X | g.48688671C= | CA2428355632 | WAS | n.187C= c.943C= (p.Pro315=) c.932-145C= (n.932-145C=) | |
| X | g.48688671C>G | CA412872687 | WAS | n.187C>G c.943C>G (p.Pro315Ala) c.932-145C>G (n.932-145C>G) | |
| X | g.48688671C>T | CA412872684 | WAS | n.187C>T c.943C>T (p.Pro315Ser) c.932-145C>T (n.932-145C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688672C>A | CA412872689 | WAS | n.188C>A c.944C>A (p.Pro315Gln) c.932-144C>A (n.932-144C>A) | gnomAD v4 |
| X | g.48688672C= | CA2428355633 | WAS | n.188C= c.944C= (p.Pro315=) c.932-144C= (n.932-144C=) | |
| X | g.48688672C>G | CA412872691 | WAS | n.188C>G c.944C>G (p.Pro315Arg) c.932-144C>G (n.932-144C>G) | |
| X | g.48688672C>T | CA412872692 | WAS | n.188C>T c.944C>T (p.Pro315Leu) c.932-144C>T (n.932-144C>T) | dbSNP gnomAD v4 |
| X | g.48688673G>A | CA10404020 | WAS | n.189G>A c.945G>A (p.Pro315=) c.932-143G>A (n.932-143G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688673G>C | CA516356185 | WAS | n.189G>C c.945G>C (p.Pro315=) c.932-143G>C (n.932-143G>C) | |
| X | g.48688673G= | CA2428355634 | WAS | n.189G= c.945G= (p.Pro315=) c.932-143G= (n.932-143G=) | |
| X | g.48688673G>T | CA516356186 | WAS | n.189G>T c.945G>T (p.Pro315=) c.932-143G>T (n.932-143G>T) | |
| X | g.48688674C>A | CA10404021 | WAS | n.190C>A c.946C>A (p.Pro316Thr) c.932-142C>A (n.932-142C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688674C= | CA2428355635 | WAS | n.190C= c.946C= (p.Pro316=) c.932-142C= (n.932-142C=) | |
| X | g.48688674C>G | CA412872696 | WAS | n.190C>G c.946C>G (p.Pro316Ala) c.932-142C>G (n.932-142C>G) | |
| X | g.48688674C>T | CA412872698 | WAS | n.190C>T c.946C>T (p.Pro316Ser) c.932-142C>T (n.932-142C>T) | |
| X | g.48688678dup | CA2695234064 | WAS | n.194dup c.950dup (p.Pro318ThrfsTer18) c.932-138dup (n.932-138dup) | |
| X | g.48688678del | CA2693644475 | WAS | n.194del c.950del (p.Pro317HisfsTer?) c.932-138del (n.932-138del) | gnomAD v4 |
| X | g.48688677_48688678del | CA2695234063 | WAS | n.193_194del c.949_950del (p.Pro317ThrfsTer18) c.932-139_932-138del (n.932-139_932-138del) | |
| X | g.48688675C>A | CA412872701 | WAS | n.191C>A c.947C>A (p.Pro316His) c.932-141C>A (n.932-141C>A) | ClinVar dbSNP |
| X | g.48688675C>G | CA412872703 | WAS | n.191C>G c.947C>G (p.Pro316Arg) c.932-141C>G (n.932-141C>G) | |
| X | g.48688675C>T | CA412872704 | WAS | n.191C>T c.947C>T (p.Pro316Leu) c.932-141C>T (n.932-141C>T) | |
| X | g.48688676C>A | CA516356187 | WAS | n.192C>A c.948C>A (p.Pro316=) c.932-140C>A (n.932-140C>A) | |
| X | g.48688676C>G | CA516356188 | WAS | n.192C>G c.948C>G (p.Pro316=) c.932-140C>G (n.932-140C>G) | |
| X | g.48688676C>T | CA516356189 | WAS | n.192C>T c.948C>T (p.Pro316=) c.932-140C>T (n.932-140C>T) | |
| X | g.48688677C>A | CA412872705 | WAS | n.193C>A c.949C>A (p.Pro317Thr) c.932-139C>A (n.932-139C>A) | |
| X | g.48688677C>G | CA412872707 | WAS | n.193C>G c.949C>G (p.Pro317Ala) c.932-139C>G (n.932-139C>G) | |
| X | g.48688677C>T | CA412872709 | WAS | n.193C>T c.949C>T (p.Pro317Ser) c.932-139C>T (n.932-139C>T) | |
| X | g.48688678C>A | CA412872715 | WAS | n.194C>A c.950C>A (p.Pro317Gln) c.932-138C>A (n.932-138C>A) | gnomAD v4 |
| X | g.48688678C>G | CA412872712 | WAS | n.194C>G c.950C>G (p.Pro317Arg) c.932-138C>G (n.932-138C>G) | |
| X | g.48688678C>T | CA412872713 | WAS | n.194C>T c.950C>T (p.Pro317Leu) c.932-138C>T (n.932-138C>T) | |
| X | g.48688679A>C | CA516356190 | WAS | n.195A>C c.951A>C (p.Pro317=) c.932-137A>C (n.932-137A>C) | gnomAD v3 gnomAD v4 |
| X | g.48688679A>G | CA516356191 | WAS | n.195A>G c.951A>G (p.Pro317=) c.932-137A>G (n.932-137A>G) | |
| X | g.48688679A>T | CA516356192 | WAS | n.195A>T c.951A>T (p.Pro317=) c.932-137A>T (n.932-137A>T) | |
| X | g.48688680C>A | CA412872717 | WAS | n.196C>A c.952C>A (p.Pro318Thr) c.932-136C>A (n.932-136C>A) | |
| X | g.48688680C>G | CA412872719 | WAS | n.196C>G c.952C>G (p.Pro318Ala) c.932-136C>G (n.932-136C>G) | gnomAD v4 |
| X | g.48688680C>T | CA412872721 | WAS | n.196C>T c.952C>T (p.Pro318Ser) c.932-136C>T (n.932-136C>T) | |
| X | g.48688681C>A | CA412872723 | WAS | n.197C>A c.953C>A (p.Pro318Gln) c.932-135C>A (n.932-135C>A) | |
| X | g.48688681C= | CA2428355636 | WAS | n.197C= c.953C= (p.Pro318=) c.932-135C= (n.932-135C=) | |
| X | g.48688681C>G | CA412872725 | WAS | n.197C>G c.953C>G (p.Pro318Arg) c.932-135C>G (n.932-135C>G) | |
| X | g.48688681C>T | CA412872727 | WAS | n.197C>T c.953C>T (p.Pro318Leu) c.932-135C>T (n.932-135C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.48688682G>A | CA516356193 | WAS | n.198G>A c.954G>A (p.Pro318=) c.932-134G>A (n.932-134G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688682G>C | CA516356194 | WAS | n.198G>C c.954G>C (p.Pro318=) c.932-134G>C (n.932-134G>C) | |
| X | g.48688682G= | CA2428355637 | WAS | n.198G= c.954G= (p.Pro318=) c.932-134G= (n.932-134G=) | |
| X | g.48688682G>T | CA516356195 | WAS | n.198G>T c.954G>T (p.Pro318=) c.932-134G>T (n.932-134G>T) | |
| X | g.48688683C>A | CA412872729 | WAS | n.199C>A c.955C>A (p.Pro319Thr) c.932-133C>A (n.932-133C>A) | |
| X | g.48688683C= | CA2428355638 | WAS | n.199C= c.955C= (p.Pro319=) c.932-133C= (n.932-133C=) | |
| X | g.48688683C>G | CA412872730 | WAS | n.199C>G c.955C>G (p.Pro319Ala) c.932-133C>G (n.932-133C>G) | |
| X | g.48688683C>T | CA412872731 | WAS | n.199C>T c.955C>T (p.Pro319Ser) c.932-133C>T (n.932-133C>T) | dbSNP |
| X | g.48688684C>A | CA412872733 | WAS | n.200C>A c.956C>A (p.Pro319Gln) c.932-132C>A (n.932-132C>A) | |
| X | g.48688684C>G | CA412872735 | WAS | n.200C>G c.956C>G (p.Pro319Arg) c.932-132C>G (n.932-132C>G) | |
| X | g.48688684C>T | CA412872737 | WAS | n.200C>T c.956C>T (p.Pro319Leu) c.932-132C>T (n.932-132C>T) | gnomAD v4 |
| X | g.48688685A>C | CA516356196 | WAS | n.201A>C c.957A>C (p.Pro319=) c.932-131A>C (n.932-131A>C) | gnomAD v3 gnomAD v4 |
| X | g.48688685A>G | CA516356197 | WAS | n.201A>G c.957A>G (p.Pro319=) c.932-131A>G (n.932-131A>G) | |
| X | g.48688685A>T | CA516356198 | WAS | n.201A>T c.957A>T (p.Pro319=) c.932-131A>T (n.932-131A>T) | gnomAD v4 |
| X | g.48688686T>A | CA412872739 | WAS | n.202T>A c.958T>A (p.Ser320Thr) c.932-130T>A (n.932-130T>A) | |
| X | g.48688686T>C | CA412872747 | WAS | n.202T>C c.958T>C (p.Ser320Pro) c.932-130T>C (n.932-130T>C) | |
| X | g.48688686T>G | CA412872741 | WAS | n.202T>G c.958T>G (p.Ser320Ala) c.932-130T>G (n.932-130T>G) | |
| X | g.48688687C>A | CA412872749 | WAS | n.203C>A c.959C>A (p.Ser320Tyr) c.932-129C>A (n.932-129C>A) | |
| X | g.48688687C= | CA2428355639 | WAS | n.203C= c.959C= (p.Ser320=) c.932-129C= (n.932-129C=) | |
| X | g.48688687C>G | CA412872751 | WAS | n.203C>G c.959C>G (p.Ser320Cys) c.932-129C>G (n.932-129C>G) | |
| X | g.48688687C>T | CA412872753 | WAS | n.203C>T c.959C>T (p.Ser320Phe) c.932-129C>T (n.932-129C>T) | ClinVar dbSNP |
| X | g.48688688T>A | CA516356201 | WAS | n.204T>A c.960T>A (p.Ser320=) c.932-128T>A (n.932-128T>A) | |
| X | g.48688688T>C | CA516356199 | WAS | n.204T>C c.960T>C (p.Ser320=) c.932-128T>C (n.932-128T>C) | |
| X | g.48688688T>G | CA516356200 | WAS | n.204T>G c.960T>G (p.Ser320=) c.932-128T>G (n.932-128T>G) | |
| X | g.48688689C>A | CA516356202 | WAS | n.205C>A c.961C>A (p.Arg321=) c.932-127C>A (n.932-127C>A) | |
| X | g.48688689C= | CA2428355640 | WAS | n.205C= c.961C= (p.Arg321=) c.932-127C= (n.932-127C=) | |
| X | g.48688689C>G | CA412872754 | WAS | n.205C>G c.961C>G (p.Arg321Gly) c.932-127C>G (n.932-127C>G) | |
| X | g.48688689C>T | CA412872755 | WAS | n.205C>T c.961C>T (p.Arg321Ter) c.932-127C>T (n.932-127C>T) | ClinVar dbSNP |
| X | g.48688690G>A | CA10404022 | WAS | n.206G>A c.962G>A (p.Arg321Gln) c.932-126G>A (n.932-126G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688690G>C | CA412872759 | WAS | n.206G>C c.962G>C (p.Arg321Pro) c.932-126G>C (n.932-126G>C) | dbSNP gnomAD v2 COSMIC |
| X | g.48688690G= | CA2428355641 | WAS | n.206G= c.962G= (p.Arg321=) c.932-126G= (n.932-126G=) | |
| X | g.48688690G>T | CA412872761 | WAS | n.206G>T c.962G>T (p.Arg321Leu) c.932-126G>T (n.932-126G>T) | |
| X | g.48688694_48688696del | CA2580617036 | WAS | n.210_212del c.966_968del (p.Gly323del) c.932-122_932-120del (n.932-122_932-120del) | ClinVar |
| X | g.48688691A>C | CA516356203 | WAS | n.207A>C c.963A>C (p.Arg321=) c.932-125A>C (n.932-125A>C) | |
| X | g.48688691A>G | CA516356204 | WAS | n.207A>G c.963A>G (p.Arg321=) c.932-125A>G (n.932-125A>G) | |
| X | g.48688691A>T | CA516356205 | WAS | n.207A>T c.963A>T (p.Arg321=) c.932-125A>T (n.932-125A>T) | |
| X | g.48688692G>A | CA412872763 | WAS | n.208G>A c.964G>A (p.Gly322Arg) c.932-124G>A (n.932-124G>A) | |
| X | g.48688692G>C | CA412872765 | WAS | n.208G>C c.964G>C (p.Gly322Arg) c.932-124G>C (n.932-124G>C) | |
| X | g.48688692G>T | CA412872767 | WAS | n.208G>T c.964G>T (p.Gly322Ter) c.932-124G>T (n.932-124G>T) | ClinVar |
| X | g.48688693G>A | CA412872773 | WAS | n.209G>A c.965G>A (p.Gly322Glu) c.932-123G>A (n.932-123G>A) | |
| X | g.48688693G>C | CA412872771 | WAS | n.209G>C c.965G>C (p.Gly322Ala) c.932-123G>C (n.932-123G>C) | |
| X | g.48688693G>T | CA412872769 | WAS | n.209G>T c.965G>T (p.Gly322Val) c.932-123G>T (n.932-123G>T) | |
| X | g.48688694A= | CA2428355642 | WAS | n.210A= c.966A= (p.Gly322=) c.932-122A= (n.932-122A=) | |
| X | g.48688694A>C | CA516356207 | WAS | n.210A>C c.966A>C (p.Gly322=) c.932-122A>C (n.932-122A>C) | dbSNP gnomAD v4 |
| X | g.48688694A>G | CA516356206 | WAS | n.210A>G c.966A>G (p.Gly322=) c.932-122A>G (n.932-122A>G) | |
| X | g.48688694A>T | CA516356208 | WAS | n.210A>T c.966A>T (p.Gly322=) c.932-122A>T (n.932-122A>T) | |
| X | g.48688695G>A | CA412872774 | WAS | n.211G>A c.967G>A (p.Gly323Arg) c.932-121G>A (n.932-121G>A) | |
| X | g.48688695G>C | CA412872776 | WAS | n.211G>C c.967G>C (p.Gly323Arg) c.932-121G>C (n.932-121G>C) | |
| X | g.48688695G>T | CA412872778 | WAS | n.211G>T c.967G>T (p.Gly323Trp) c.932-121G>T (n.932-121G>T) | |
| X | g.48688697del | CA2740092135 | WAS | n.213del c.969del (p.Asn324ThrfsTer?) c.932-119del (n.932-119del) | ClinVar |
| X | g.48688696G>A | CA412872781 | WAS | n.212G>A c.968G>A (p.Gly323Glu) c.932-120G>A (n.932-120G>A) | |
| X | g.48688696G>C | CA412872783 | WAS | n.212G>C c.968G>C (p.Gly323Ala) c.932-120G>C (n.932-120G>C) | gnomAD v3 gnomAD v4 |
| X | g.48688696G>T | CA412872785 | WAS | n.212G>T c.968G>T (p.Gly323Val) c.932-120G>T (n.932-120G>T) | |
| X | g.48688697G>A | CA516356209 | WAS | n.213G>A c.969G>A (p.Gly323=) c.932-119G>A (n.932-119G>A) | gnomAD v4 |
| X | g.48688697G>C | CA516356210 | WAS | n.213G>C c.969G>C (p.Gly323=) c.932-119G>C (n.932-119G>C) | |
| X | g.48688697G>T | CA516356211 | WAS | n.213G>T c.969G>T (p.Gly323=) c.932-119G>T (n.932-119G>T) | |
| X | g.48688698A>C | CA412872786 | WAS | n.214A>C c.970A>C (p.Asn324His) c.932-118A>C (n.932-118A>C) | |
| X | g.48688698A>G | CA412872788 | WAS | n.214A>G c.970A>G (p.Asn324Asp) c.932-118A>G (n.932-118A>G) | |
| X | g.48688698A>T | CA412872789 | WAS | n.214A>T c.970A>T (p.Asn324Tyr) c.932-118A>T (n.932-118A>T) | |
| X | g.48688699A>C | CA412872791 | WAS | n.215A>C c.971A>C (p.Asn324Thr) c.932-117A>C (n.932-117A>C) | gnomAD v3 gnomAD v4 |
| X | g.48688699A>G | CA412872793 | WAS | n.215A>G c.971A>G (p.Asn324Ser) c.932-117A>G (n.932-117A>G) | |
| X | g.48688699A>T | CA412872795 | WAS | n.215A>T c.971A>T (p.Asn324Ile) c.932-117A>T (n.932-117A>T) | |
| X | g.48688700C>A | CA412872800 | WAS | n.216C>A c.972C>A (p.Asn324Lys) c.932-116C>A (n.932-116C>A) | gnomAD v4 |
| X | g.48688700C>G | CA412872798 | WAS | n.216C>G c.972C>G (p.Asn324Lys) c.932-116C>G (n.932-116C>G) | |
| X | g.48688700C>T | CA516356212 | WAS | n.216C>T c.972C>T (p.Asn324=) c.932-116C>T (n.932-116C>T) | |
| X | g.48688701C>A | CA412872801 | WAS | n.217C>A c.973C>A (p.Gln325Lys) c.932-115C>A (n.932-115C>A) | gnomAD v4 |
| X | g.48688701C>G | CA412872805 | WAS | n.217C>G c.973C>G (p.Gln325Glu) c.932-115C>G (n.932-115C>G) | |
| X | g.48688701C>T | CA412872803 | WAS | n.217C>T c.973C>T (p.Gln325Ter) c.932-115C>T (n.932-115C>T) | gnomAD v4 |
| X | g.48688702A= | CA2428355643 | WAS | n.218A= c.974A= (p.Gln325=) c.932-114A= (n.932-114A=) | |
| X | g.48688702A>C | CA412872807 | WAS | n.218A>C c.974A>C (p.Gln325Pro) c.932-114A>C (n.932-114A>C) | |
| X | g.48688702A>G | CA412872808 | WAS | n.218A>G c.974A>G (p.Gln325Arg) c.932-114A>G (n.932-114A>G) | gnomAD v4 |
| X | g.48688702A>T | CA412872810 | WAS | n.218A>T c.974A>T (p.Gln325Leu) c.932-114A>T (n.932-114A>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688703G>A | CA516356213 | WAS | n.219G>A c.975G>A (p.Gln325=) c.932-113G>A (n.932-113G>A) | |
| X | g.48688703G>C | CA16622100 | WAS | n.219G>C c.975G>C (p.Gln325His) c.932-113G>C (n.932-113G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688703G= | CA2428355644 | WAS | n.219G= c.975G= (p.Gln325=) c.932-113G= (n.932-113G=) | |
| X | g.48688703G>T | CA412872813 | WAS | n.219G>T c.975G>T (p.Gln325His) c.932-113G>T (n.932-113G>T) | |
| X | g.48688704del | CA2695234065 | WAS | n.220del c.976del (p.Leu326SerfsTer?) c.932-112del (n.932-112del) | |
| X | g.48688704C>A | CA412872815 | WAS | n.220C>A c.976C>A (p.Leu326Ile) c.932-112C>A (n.932-112C>A) | |
| X | g.48688704C>G | CA412872817 | WAS | n.220C>G c.976C>G (p.Leu326Val) c.932-112C>G (n.932-112C>G) | |
| X | g.48688704C>T | CA412872819 | WAS | n.220C>T c.976C>T (p.Leu326Phe) c.932-112C>T (n.932-112C>T) | gnomAD v4 |
| X | g.48688705T>A | CA412872821 | WAS | n.221T>A c.977T>A (p.Leu326His) c.932-111T>A (n.932-111T>A) | |
| X | g.48688705T>C | CA412872823 | WAS | n.221T>C c.977T>C (p.Leu326Pro) c.932-111T>C (n.932-111T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688705T>G | CA412872824 | WAS | n.221T>G c.977T>G (p.Leu326Arg) c.932-111T>G (n.932-111T>G) | |
| X | g.48688705T= | CA2428355645 | WAS | n.221T= c.977T= (p.Leu326=) c.932-111T= (n.932-111T=) | |
| X | g.48688706C>A | CA516356214 | WAS | n.222C>A c.978C>A (p.Leu326=) c.932-110C>A (n.932-110C>A) | gnomAD v4 |
| X | g.48688706C>G | CA516356215 | WAS | n.222C>G c.978C>G (p.Leu326=) c.932-110C>G (n.932-110C>G) | |
| X | g.48688706C>T | CA516356216 | WAS | n.222C>T c.978C>T (p.Leu326=) c.932-110C>T (n.932-110C>T) | |
| X | g.48688710dup | CA2695234066 | WAS | n.226dup c.982dup (p.Arg328ProfsTer8) c.932-106dup (n.932-106dup) | |
| X | g.48688710del | CA2547117441 | WAS | n.226del c.982del (p.Arg328GlyfsTer?) c.932-106del (n.932-106del) | gnomAD v4 |
| X | g.48688709_48688710del | CA2693644487 | WAS | n.225_226del c.981_982del (p.Arg328AlafsTer7) c.932-107_932-106del (n.932-107_932-106del) | gnomAD v4 |
| X | g.48688707C>A | CA412872830 | WAS | n.223C>A c.979C>A (p.Pro327Thr) c.932-109C>A (n.932-109C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688707C= | CA2428355646 | WAS | n.223C= c.979C= (p.Pro327=) c.932-109C= (n.932-109C=) | |
| X | g.48688707C>G | CA412872827 | WAS | n.223C>G c.979C>G (p.Pro327Ala) c.932-109C>G (n.932-109C>G) | |
| X | g.48688707C>T | CA412872828 | WAS | n.223C>T c.979C>T (p.Pro327Ser) c.932-109C>T (n.932-109C>T) | gnomAD v4 |
| X | g.48688708C>A | CA412872831 | WAS | n.224C>A c.980C>A (p.Pro327His) c.932-108C>A (n.932-108C>A) | |
| X | g.48688708C>G | CA412872833 | WAS | n.224C>G c.980C>G (p.Pro327Arg) c.932-108C>G (n.932-108C>G) | |
| X | g.48688708C>T | CA412872835 | WAS | n.224C>T c.980C>T (p.Pro327Leu) c.932-108C>T (n.932-108C>T) | |
| X | g.48688709C>A | CA516356217 | WAS | n.225C>A c.981C>A (p.Pro327=) c.932-107C>A (n.932-107C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688709C= | CA2428355647 | WAS | n.225C= c.981C= (p.Pro327=) c.932-107C= (n.932-107C=) | |
| X | g.48688709C>G | CA516356218 | WAS | n.225C>G c.981C>G (p.Pro327=) c.932-107C>G (n.932-107C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.48688709C>T | CA516356219 | WAS | n.225C>T c.981C>T (p.Pro327=) c.932-107C>T (n.932-107C>T) | gnomAD v4 |
| X | g.48688710C>A | CA516356220 | WAS | n.226C>A c.982C>A (p.Arg328=) c.932-106C>A (n.932-106C>A) | gnomAD v4 |
| X | g.48688710C= | CA2428355648 | WAS | n.226C= c.982C= (p.Arg328=) c.932-106C= (n.932-106C=) | |
| X | g.48688710C>G | CA412872837 | WAS | n.226C>G c.982C>G (p.Arg328Gly) c.932-106C>G (n.932-106C>G) | |
| X | g.48688710C>T | CA412872839 | WAS | n.226C>T c.982C>T (p.Arg328Trp) c.932-106C>T (n.932-106C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688711G>A | CA10404023 | WAS | n.227G>A c.983G>A (p.Arg328Gln) c.932-105G>A (n.932-105G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.48688711G>C | CA412872841 | WAS | n.227G>C c.983G>C (p.Arg328Pro) c.932-105G>C (n.932-105G>C) | |
| X | g.48688711G= | CA2428355649 | WAS | n.227G= c.983G= (p.Arg328=) c.932-105G= (n.932-105G=) | |
| X | g.48688711G>T | CA412872843 | WAS | n.227G>T c.983G>T (p.Arg328Leu) c.932-105G>T (n.932-105G>T) | gnomAD v4 |
| X | g.48688712del | CA2695234067 | WAS | n.228del c.984del (p.Pro330LeufsTer?) c.932-104del (n.932-104del) | |
| X | g.48688712G>A | CA516356221 | WAS | n.228G>A c.984G>A (p.Arg328=) c.932-104G>A (n.932-104G>A) | gnomAD v4 |
| X | g.48688712G>C | CA516356222 | WAS | n.228G>C c.984G>C (p.Arg328=) c.932-104G>C (n.932-104G>C) | gnomAD v4 |
| X | g.48688712G>T | CA516356223 | WAS | n.228G>T c.984G>T (p.Arg328=) c.932-104G>T (n.932-104G>T) | |
| X | g.48688713C>A | CA412872845 | WAS | n.229C>A c.985C>A (p.Pro329Thr) c.932-103C>A (n.932-103C>A) | gnomAD v4 |
| X | g.48688713C= | CA2428355650 | WAS | n.229C= c.985C= (p.Pro329=) c.932-103C= (n.932-103C=) | |
| X | g.48688713C>G | CA412872847 | WAS | n.229C>G c.985C>G (p.Pro329Ala) c.932-103C>G (n.932-103C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.48688713C>T | CA412872849 | WAS | n.229C>T c.985C>T (p.Pro329Ser) c.932-103C>T (n.932-103C>T) | |
| X | g.48688717del | CA645619091 | WAS | n.233del c.989del (p.Pro330LeufsTer?) c.932-99del (n.932-99del) | gnomAD v4 COSMIC |
| X | g.48688714C>A | CA412872853 | WAS | n.230C>A c.986C>A (p.Pro329His) c.932-102C>A (n.932-102C>A) | |
| X | g.48688714C>G | CA412872855 | WAS | n.230C>G c.986C>G (p.Pro329Arg) c.932-102C>G (n.932-102C>G) | |
| X | g.48688714C>T | CA412872851 | WAS | n.230C>T c.986C>T (p.Pro329Leu) c.932-102C>T (n.932-102C>T) | |
| X | g.48688715C>A | CA516356225 | WAS | n.231C>A c.987C>A (p.Pro329=) c.932-101C>A (n.932-101C>A) | gnomAD v4 |
| X | g.48688715C= | CA2428355651 | WAS | n.231C= c.987C= (p.Pro329=) c.932-101C= (n.932-101C=) | |
| X | g.48688715C>G | CA516356226 | WAS | n.231C>G c.987C>G (p.Pro329=) c.932-101C>G (n.932-101C>G) | |
| X | g.48688715C>T | CA516356224 | WAS | n.231C>T c.987C>T (p.Pro329=) c.932-101C>T (n.932-101C>T) | ClinVar dbSNP |
| X | g.48688716C>A | CA412872858 | WAS | n.232C>A c.988C>A (p.Pro330Thr) c.932-100C>A (n.932-100C>A) | |
| X | g.48688716C>G | CA412872860 | WAS | n.232C>G c.988C>G (p.Pro330Ala) c.932-100C>G (n.932-100C>G) | |
| X | g.48688716C>T | CA412872861 | WAS | n.232C>T c.988C>T (p.Pro330Ser) c.932-100C>T (n.932-100C>T) | gnomAD v4 |
| X | g.48688717C>A | CA412872864 | WAS | n.233C>A c.989C>A (p.Pro330His) c.932-99C>A (n.932-99C>A) | gnomAD v4 |
| X | g.48688717C= | CA2428355652 | WAS | n.233C= c.989C= (p.Pro330=) c.932-99C= (n.932-99C=) | |
| X | g.48688717C>G | CA412872865 | WAS | n.233C>G c.989C>G (p.Pro330Arg) c.932-99C>G (n.932-99C>G) | |
| X | g.48688717C>T | CA16622101 | WAS | n.233C>T c.989C>T (p.Pro330Leu) c.932-99C>T (n.932-99C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688718del | CA2573055337 | WAS | n.234del c.990del (p.Ile331LeufsTer?) c.932-98del (n.932-98del) | ClinVar dbSNP |
| X | g.48688718T>A | CA516356229 | WAS | n.234T>A c.990T>A (p.Pro330=) c.932-98T>A (n.932-98T>A) | |
| X | g.48688718T>C | CA516356228 | WAS | n.234T>C c.990T>C (p.Pro330=) c.932-98T>C (n.932-98T>C) | |
| X | g.48688718T>G | CA516356227 | WAS | n.234T>G c.990T>G (p.Pro330=) c.932-98T>G (n.932-98T>G) | |
| X | g.48688719A>C | CA412872868 | WAS | n.235A>C c.991A>C (p.Ile331Leu) c.932-97A>C (n.932-97A>C) | |
| X | g.48688719A>G | CA412872870 | WAS | n.235A>G c.991A>G (p.Ile331Val) c.932-97A>G (n.932-97A>G) | gnomAD v4 |
| X | g.48688719A>T | CA412872872 | WAS | n.235A>T c.991A>T (p.Ile331Phe) c.932-97A>T (n.932-97A>T) | ClinVar dbSNP gnomAD v4 |
| X | g.48688719dup | CA2695234068 | WAS | n.235dup c.991dup (p.Ile331AsnfsTer5) c.932-97dup (n.932-97dup) | |
| X | g.48688720T>A | CA412872874 | WAS | n.236T>A c.992T>A (p.Ile331Asn) c.932-96T>A (n.932-96T>A) | |
| X | g.48688720T>C | CA412872876 | WAS | n.236T>C c.992T>C (p.Ile331Thr) c.932-96T>C (n.932-96T>C) | ClinVar gnomAD v4 |
| X | g.48688720T>G | CA412872878 | WAS | n.236T>G c.992T>G (p.Ile331Ser) c.932-96T>G (n.932-96T>G) | |
| X | g.48688721T>A | CA516356230 | WAS | n.237T>A c.993T>A (p.Ile331=) c.932-95T>A (n.932-95T>A) | |
| X | g.48688721T>C | CA516356232 | WAS | n.237T>C c.993T>C (p.Ile331=) c.932-95T>C (n.932-95T>C) | |
| X | g.48688721T>G | CA412872880 | WAS | n.237T>G c.993T>G (p.Ile331Met) c.932-95T>G (n.932-95T>G) | ClinVar dbSNP gnomAD v4 |
| X | g.48688721T= | CA2428355653 | WAS | n.237T= c.993T= (p.Ile331=) c.932-95T= (n.932-95T=) | |
| X | g.48688722del | CA2695233755 | WAS | n.238del c.994del (p.Val332TrpfsTer?) c.932-94del (n.932-94del) | |
| X | g.48688722G>A | CA412872886 | WAS | n.238G>A c.994G>A (p.Val332Met) c.932-94G>A (n.932-94G>A) | |
| X | g.48688722G>C | CA412872884 | WAS | n.238G>C c.994G>C (p.Val332Leu) c.932-94G>C (n.932-94G>C) | |
| X | g.48688722G>T | CA412872882 | WAS | n.238G>T c.994G>T (p.Val332Leu) c.932-94G>T (n.932-94G>T) | |
| X | g.48688723T>A | CA412872888 | WAS | n.239T>A c.995T>A (p.Val332Glu) c.932-93T>A (n.932-93T>A) | |
| X | g.48688723T>C | CA162675 | WAS | n.239T>C c.995T>C (p.Val332Ala) c.932-93T>C (n.932-93T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48688723T>G | CA412872891 | WAS | n.239T>G c.995T>G (p.Val332Gly) c.932-93T>G (n.932-93T>G) | |
| X | g.48688723T= | CA2428355655 | WAS | n.239T= c.995T= (p.Val332=) c.932-93T= (n.932-93T=) | |
| X | g.48688723dup | CA2695233756 | WAS | n.239dup c.995dup (p.Asn335Ter) c.932-93dup (n.932-93dup) | |
| X | g.48688723_48688724delinsTG | CA2428355654 | WAS | n.239_240delinsTG c.995_996delinsTG (p.Val332=) c.932-93_932-92delinsTG (n.932-93_932-92delinsTG) |