1 |
PHKG2 |
NM_000294.3(PHKG2):c.250del (p.Val84fs) |
deletion |
Pathogenic |
566399 |
rs1567260747 |
16:30762580-30762580 |
16:30751259-30751259 |
2 |
PHKG2 |
NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer) |
short repeat |
Pathogenic |
538173 |
rs1555467052 |
16:30762914-30762915 |
16:30751593-30751594 |
3 |
PHKG2 |
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) |
indel |
Pathogenic |
538172 |
rs1555467557 |
16:30767711-30767712 |
16:30756390-30756391 |
4 |
PHKG2 |
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) |
SNV |
Pathogenic |
577568 |
rs1270523244 |
16:30764875-30764875 |
16:30753554-30753554 |
5 |
PHKG2 |
NM_000294.3(PHKG2):c.783del (p.Ser262fs) |
deletion |
Pathogenic |
694642 |
|
16:30767822-30767822 |
16:30756501-30756501 |
6 |
PHKG2 |
NM_000294.3(PHKG2):c.657del (p.Cys219fs) |
deletion |
Pathogenic |
803250 |
|
16:30767697-30767697 |
16:30756376-30756376 |
7 |
PHKG2 |
PHKG2, 1-BP INS |
insertion |
Pathogenic |
13625 |
|
|
|
8 |
PHKG2 |
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) |
SNV |
Pathogenic |
13626 |
rs137853588 |
16:30767512-30767512 |
16:30756191-30756191 |
9 |
PHKG2 |
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) |
SNV |
Pathogenic |
13627 |
rs137853589 |
16:30762915-30762915 |
16:30751594-30751594 |
10 |
PHKG2 |
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) |
SNV |
Pathogenic |
13628 |
rs137853590 |
16:30762461-30762461 |
16:30751140-30751140 |
11 |
PHKG2 |
NM_000294.3(PHKG2):c.277del (p.Leu93fs) |
deletion |
Pathogenic |
13629 |
|
16:30762873-30762873 |
16:30751552-30751552 |
12 |
PHKG2 |
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) |
SNV |
Pathogenic |
13630 |
rs137853591 |
16:30764755-30764755 |
16:30753434-30753434 |
13 |
PHKG2 |
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) |
SNV |
Pathogenic |
13631 |
rs137853592 |
16:30767717-30767717 |
16:30756396-30756396 |
14 |
PHKG2 |
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) |
SNV |
Likely pathogenic |
694643 |
|
16:30767701-30767701 |
16:30756380-30756380 |
15 |
PHKG2 |
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) |
SNV |
Likely pathogenic |
803251 |
|
16:30768267-30768267 |
16:30756946-30756946 |
16 |
PHKG2 |
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) |
SNV |
Conflicting interpretations of pathogenicity |
318937 |
rs55751949 |
16:30764715-30764715 |
16:30753394-30753394 |
17 |
PHKG2 |
NM_000294.3(PHKG2):c.318G>T (p.Val106=) |
SNV |
Conflicting interpretations of pathogenicity |
318935 |
rs199743139 |
16:30762916-30762916 |
16:30751595-30751595 |
18 |
PHKG2 |
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) |
SNV |
Conflicting interpretations of pathogenicity |
318936 |
rs138416154 |
16:30762922-30762922 |
16:30751601-30751601 |
19 |
PHKG2 |
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) |
SNV |
Conflicting interpretations of pathogenicity |
388646 |
rs149163610 |
16:30764586-30764586 |
16:30753265-30753265 |
20 |
PHKG2 |
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) |
SNV |
Conflicting interpretations of pathogenicity |
386281 |
rs201113602 |
16:30768030-30768030 |
16:30756709-30756709 |
21 |
PHKG2 |
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) |
SNV |
Conflicting interpretations of pathogenicity |
255783 |
rs56029513 |
16:30762886-30762886 |
16:30751565-30751565 |
22 |
PHKG2 |
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) |
SNV |
Conflicting interpretations of pathogenicity |
255785 |
rs187710792 |
16:30767531-30767531 |
16:30756210-30756210 |
23 |
PHKG2 |
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) |
SNV |
Conflicting interpretations of pathogenicity |
255780 |
rs61731628 |
16:30768334-30768334 |
16:30757013-30757013 |
24 |
PHKG2 |
NM_000294.3(PHKG2):c.-28G>T |
SNV |
Conflicting interpretations of pathogenicity |
318930 |
rs556945561 |
16:30759802-30759802 |
16:30748481-30748481 |
25 |
PHKG2 |
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) |
SNV |
Uncertain significance |
318931 |
rs200427925 |
16:30760162-30760162 |
16:30748841-30748841 |
26 |
PHKG2 |
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) |
SNV |
Uncertain significance |
318938 |
rs886051911 |
16:30764770-30764770 |
16:30753449-30753449 |
27 |
PHKG2 |
NM_000294.3(PHKG2):c.556+5G>T |
SNV |
Uncertain significance |
318940 |
rs369684098 |
16:30764883-30764883 |
16:30753562-30753562 |
28 |
PHKG2 |
NM_000294.3(PHKG2):c.95+11G>A |
SNV |
Uncertain significance |
318933 |
rs886051910 |
16:30760247-30760247 |
16:30748926-30748926 |
29 |
PHKG2 |
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) |
SNV |
Uncertain significance |
318942 |
rs886051914 |
16:30768377-30768377 |
16:30757056-30757056 |
30 |
PHKG2 |
NM_000294.3(PHKG2):c.928-9C>G |
SNV |
Uncertain significance |
318941 |
rs886051913 |
16:30768116-30768116 |
16:30756795-30756795 |
31 |
PHKG2 |
NM_001172432.1(PHKG2):c.-106G>A |
SNV |
Uncertain significance |
318928 |
rs879382458 |
16:30759724-30759724 |
16:30748403-30748403 |
32 |
PHKG2 |
NM_000294.3(PHKG2):c.271+14C>T |
SNV |
Uncertain significance |
318934 |
rs572169140 |
16:30762616-30762616 |
16:30751295-30751295 |
33 |
PHKG2 |
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) |
SNV |
Uncertain significance |
840479 |
|
16:30768155-30768155 |
16:30756834-30756834 |
34 |
PHKG2 |
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln) |
SNV |
Uncertain significance |
834218 |
|
16:30768156-30768156 |
16:30756835-30756835 |
35 |
PHKG2 |
NM_001172432.1(PHKG2):c.-162C>T |
SNV |
Uncertain significance |
885327 |
|
16:30759668-30759668 |
16:30748347-30748347 |
36 |
PHKG2 |
NM_001172432.1(PHKG2):c.-118G>A |
SNV |
Uncertain significance |
886234 |
|
16:30759712-30759712 |
16:30748391-30748391 |
37 |
PHKG2 |
NM_000294.3(PHKG2):c.-76G>C |
SNV |
Uncertain significance |
886235 |
|
16:30759754-30759754 |
16:30748433-30748433 |
38 |
PHKG2 |
NM_000294.3(PHKG2):c.-3A>G |
SNV |
Uncertain significance |
886236 |
|
16:30760139-30760139 |
16:30748818-30748818 |
39 |
PHKG2 |
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser) |
SNV |
Uncertain significance |
887238 |
|
16:30762470-30762470 |
16:30751149-30751149 |
40 |
PHKG2 |
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) |
SNV |
Uncertain significance |
884269 |
|
16:30767554-30767554 |
16:30756233-30756233 |
41 |
PHKG2 |
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) |
SNV |
Uncertain significance |
884270 |
|
16:30768251-30768251 |
16:30756930-30756930 |
42 |
PHKG2 |
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=) |
SNV |
Uncertain significance |
884271 |
|
16:30768274-30768274 |
16:30756953-30756953 |
43 |
PHKG2 |
NM_000294.3(PHKG2):c.*22C>T |
SNV |
Uncertain significance |
886306 |
|
16:30768440-30768440 |
16:30757119-30757119 |
44 |
PHKG2 |
NM_000294.3(PHKG2):c.*47G>A |
SNV |
Uncertain significance |
886307 |
|
16:30768465-30768465 |
16:30757144-30757144 |
45 |
PHKG2 |
NM_000294.3(PHKG2):c.556+11C>G |
SNV |
Uncertain significance |
888492 |
|
16:30764889-30764889 |
16:30753568-30753568 |
46 |
PHKG2 |
NM_000294.3(PHKG2):c.96-7C>G |
SNV |
Uncertain significance |
887237 |
|
16:30762420-30762420 |
16:30751099-30751099 |
47 |
PHKG2 |
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) |
SNV |
Uncertain significance |
573174 |
rs145390070 |
16:30768029-30768029 |
16:30756708-30756708 |
48 |
PHKG2 |
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) |
SNV |
Uncertain significance |
538171 |
rs535265672 |
16:30762584-30762584 |
16:30751263-30751263 |
49 |
PHKG2 |
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) |
SNV |
Uncertain significance |
470728 |
rs151033581 |
16:30768248-30768248 |
16:30756927-30756927 |
50 |
PHKG2 |
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) |
SNV |
Uncertain significance |
538170 |
rs753644625 |
16:30762545-30762545 |
16:30751224-30751224 |