1 |
PAK3 |
NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) |
SNV |
Pathogenic |
11568 |
rs121434611 |
X:110439716-110439716 |
X:111196488-111196488 |
2 |
PAK3 |
NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) |
SNV |
Pathogenic |
11569 |
rs121434612 |
X:110385347-110385347 |
X:111142119-111142119 |
3 |
PAK3 |
NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) |
SNV |
Pathogenic |
11570 |
rs121434613 |
X:110437630-110437630 |
X:111194402-111194402 |
4 |
PAK3 |
NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) |
SNV |
Pathogenic |
11571 |
rs121434614 |
X:110439798-110439798 |
X:111196570-111196570 |
5 |
PAK3 |
NM_002578.5(PAK3):c.276+4A>G |
SNV |
Pathogenic |
11572 |
rs1569398769 |
X:110385428-110385428 |
X:111142200-111142200 |
6 |
PAK3 |
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter) |
SNV |
Likely pathogenic |
981057 |
|
X:110391091-110391091 |
X:111147863-111147863 |
7 |
PAK3 |
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter) |
SNV |
Likely pathogenic |
438299 |
rs780775497 |
X:110390986-110390986 |
X:111147758-111147758 |
8 |
PAK3 |
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg) |
SNV |
Likely pathogenic |
633605 |
rs1603378331 |
X:110439743-110439743 |
X:111196515-111196515 |
9 |
PAK3 |
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) |
SNV |
Likely pathogenic |
689610 |
rs1603377813 |
X:110439071-110439071 |
X:111195843-111195843 |
10 |
PAK3 |
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) |
SNV |
Conflicting interpretations of pathogenicity |
431711 |
rs200474454 |
X:110463619-110463619 |
X:111220391-111220391 |
11 |
PAK3 |
NM_002578.5(PAK3):c.-473G>C |
SNV |
Uncertain significance |
914022 |
|
X:110339523-110339523 |
X:111096295-111096295 |
12 |
PAK3 |
NM_002578.5(PAK3):c.-470G>T |
SNV |
Uncertain significance |
914023 |
|
X:110339526-110339526 |
X:111096298-111096298 |
13 |
PAK3 |
NM_002578.5(PAK3):c.-274G>C |
SNV |
Uncertain significance |
914024 |
|
X:110340814-110340814 |
X:111097586-111097586 |
14 |
PAK3 |
NM_002578.5(PAK3):c.-160G>A |
SNV |
Uncertain significance |
914025 |
|
X:110346402-110346402 |
X:111103174-111103174 |
15 |
PAK3 |
NM_002578.5(PAK3):c.862A>G (p.Ile288Val) |
SNV |
Uncertain significance |
915255 |
|
X:110435386-110435386 |
X:111192158-111192158 |
16 |
PAK3 |
NM_002578.5(PAK3):c.*249G>T |
SNV |
Uncertain significance |
912566 |
|
X:110463924-110463924 |
X:111220696-111220696 |
17 |
PAK3 |
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn) |
SNV |
Uncertain significance |
689627 |
rs1603373843 |
X:110435842-110435842 |
X:111192614-111192614 |
18 |
PAK3 |
NM_002578.5(PAK3):c.534_536AGA[4] (p.Glu182del) |
Microsatellite |
Uncertain significance |
522789 |
rs749370794 |
X:110406206-110406208 |
X:111162978-111162980 |
19 |
PAK3 |
NM_002578.5(PAK3):c.*83C>T |
SNV |
Uncertain significance |
367719 |
rs1057515731 |
X:110463758-110463758 |
X:111220530-111220530 |
20 |
PAK3 |
NM_002578.5(PAK3):c.492T>A (p.Pro164=) |
SNV |
Uncertain significance |
367715 |
rs1057515729 |
X:110406166-110406166 |
X:111162938-111162938 |
21 |
PAK3 |
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) |
SNV |
Benign |
367717 |
rs778585528 |
X:110406854-110406854 |
X:111163626-111163626 |
22 |
PAK3 |
NM_002578.5(PAK3):c.-15T>C |
SNV |
Benign |
367713 |
rs758607736 |
X:110366317-110366317 |
X:111123089-111123089 |
23 |
PAK3 |
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) |
SNV |
Benign |
367718 |
rs377693111 |
X:110459759-110459759 |
X:111216531-111216531 |
24 |
PAK3 |
NM_002578.5(PAK3):c.483A>G (p.Ala161=) |
SNV |
Benign |
367714 |
rs146801179 |
X:110406157-110406157 |
X:111162929-111162929 |
25 |
PAK3 |
NM_002578.5(PAK3):c.*463T>C |
SNV |
Benign |
912567 |
|
X:110464138-110464138 |
X:111220910-111220910 |
26 |
PAK3 |
NM_002578.5(PAK3):c.-492G>A |
SNV |
Benign |
914021 |
|
X:110339504-110339504 |
X:111096276-111096276 |
27 |
PAK3 |
NM_002578.5(PAK3):c.918G>A (p.Lys306=) |
SNV |
Benign |
761365 |
rs151056810 |
X:110435772-110435772 |
X:111192544-111192544 |
28 |
PAK3 |
NM_002578.5(PAK3):c.-63A>G |
SNV |
Benign |
914026 |
|
X:110346499-110346499 |
X:111103271-111103271 |
29 |
PAK3 |
NM_002578.5(PAK3):c.9C>T (p.Asp3=) |
SNV |
Benign |
914027 |
|
X:110366340-110366340 |
X:111123112-111123112 |
30 |
PAK3 |
NM_002578.5(PAK3):c.531G>A (p.Glu177=) |
SNV |
Benign |
211837 |
rs56270341 |
X:110406205-110406205 |
X:111162977-111162977 |
31 |
PAK3 |
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) |
SNV |
Benign |
436144 |
rs140296303 |
X:110366341-110366341 |
X:111123113-111123113 |
32 |
PAK3 |
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) |
SNV |
Benign |
129873 |
rs150174049 |
X:110439144-110439144 |
X:111195916-111195916 |