1 |
G6PC3 |
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) |
SNV |
Pathogenic
|
1038 |
rs118203969 |
GRCh37: 17:42152696-42152696 GRCh38: 17:44075328-44075328 |
2 |
G6PC3 |
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter) |
SNV |
Pathogenic
|
1039 |
rs118203970 |
GRCh37: 17:42148474-42148474 GRCh38: 17:44071106-44071106 |
3 |
G6PC3 |
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) |
SNV |
Pathogenic
|
1040 |
rs118203971 |
GRCh37: 17:42153154-42153154 GRCh38: 17:44075786-44075786 |
4 |
G6PC3 |
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) |
SNV |
Pathogenic
|
653016 |
rs745582203 |
GRCh37: 17:42152707-42152707 GRCh38: 17:44075339-44075339 |
5 |
G6PC3 |
NM_138387.4(G6PC3):c.464del (p.Leu155fs) |
DEL |
Pathogenic
|
935219 |
rs1295168770 |
GRCh37: 17:42152381-42152381 GRCh38: 17:44075013-44075013 |
6 |
G6PC3 |
NM_138387.4(G6PC3):c.218+1G>A |
SNV |
Pathogenic
|
1430600 |
|
GRCh37: 17:42148552-42148552 GRCh38: 17:44071184-44071184 |
7 |
G6PC3 |
NM_138387.4(G6PC3):c.635del (p.Leu212fs) |
DEL |
Pathogenic
|
1451174 |
|
GRCh37: 17:42152777-42152777 GRCh38: 17:44075409-44075409 |
8 |
G6PC3 |
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs) |
DEL |
Pathogenic
|
1342134 |
|
GRCh37: 17:42153135-42153136 GRCh38: 17:44075767-44075768 |
9 |
G6PC3 |
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) |
DUP |
Pathogenic
|
189784 |
rs797044567 |
GRCh37: 17:42153301-42153302 GRCh38: 17:44075933-44075934 |
10 |
G6PC3 |
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser) |
SNV |
Pathogenic
|
189781 |
rs775224457 |
GRCh37: 17:42148463-42148463 GRCh38: 17:44071095-44071095 |
11 |
G6PC3 |
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter) |
SNV |
Pathogenic
|
1705639 |
|
GRCh37: 17:42148477-42148477 GRCh38: 17:44071109-44071109 |
12 |
G6PC3 |
NM_138387.4(G6PC3):c.210del (p.Phe71fs) |
DEL |
Pathogenic
|
189782 |
rs769441127 |
GRCh37: 17:42148543-42148543 GRCh38: 17:44071175-44071175 |
13 |
G6PC3 |
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) |
SNV |
Pathogenic
|
1037 |
rs118203968 |
GRCh37: 17:42153128-42153128 GRCh38: 17:44075760-44075760 |
14 |
G6PC3 |
NM_138387.4(G6PC3):c.207dup (p.Ile70fs) |
DUP |
Pathogenic
|
691992 |
rs1191239079 |
GRCh37: 17:42148539-42148540 GRCh38: 17:44071171-44071172 |
15 |
G6PC3 |
NM_138387.4(G6PC3):c.346A>G (p.Met116Val) |
SNV |
Pathogenic
|
1042 |
rs267606834 |
GRCh37: 17:42152068-42152068 GRCh38: 17:44074700-44074700 |
16 |
G6PC3 |
NM_138387.4(G6PC3):c.199_218+1del |
DEL |
Pathogenic
|
691994 |
rs1597905369 |
GRCh37: 17:42148527-42148547 GRCh38: 17:44071159-44071179 |
17 |
G6PC3 |
NM_138387.4(G6PC3):c.677+1G>A |
SNV |
Likely Pathogenic
|
1066709 |
|
GRCh37: 17:42152820-42152820 GRCh38: 17:44075452-44075452 |
18 |
G6PC3 |
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) |
SNV |
Likely Pathogenic
|
1339525 |
|
GRCh37: 17:42152059-42152059 GRCh38: 17:44074691-44074691 |
19 |
G6PC3 |
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) |
SNV |
Likely Pathogenic
|
632283 |
rs1194477276 |
GRCh37: 17:42148477-42148477 GRCh38: 17:44071109-44071109 |
20 |
G6PC3 |
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
262367 |
rs140294222 |
GRCh37: 17:42152708-42152708 GRCh38: 17:44075340-44075340 |
21 |
G6PC3 |
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
323461 |
rs375273894 |
GRCh37: 17:42148534-42148534 GRCh38: 17:44071166-44071166 |
22 |
G6PC3 |
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
734136 |
rs377343204 |
GRCh37: 17:42153057-42153057 GRCh38: 17:44075689-44075689 |
23 |
G6PC3 |
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
30874 |
rs200478425 |
GRCh37: 17:42153148-42153148 GRCh38: 17:44075780-44075780 |
24 |
G6PC3 |
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp) |
SNV |
Uncertain Significance
|
1717434 |
|
GRCh37: 17:42148475-42148475 GRCh38: 17:44071107-44071107 |
25 |
G6PC3 |
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser) |
SNV |
Uncertain Significance
|
1715418 |
|
GRCh37: 17:42148536-42148536 GRCh38: 17:44071168-44071168 |
26 |
G6PC3 |
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) |
SNV |
Uncertain Significance
|
847646 |
rs148030756 |
GRCh37: 17:42152404-42152404 GRCh38: 17:44075036-44075036 |
27 |
G6PC3 |
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) |
SNV |
Uncertain Significance
|
960968 |
rs765927570 |
GRCh37: 17:42153127-42153127 GRCh38: 17:44075759-44075759 |
28 |
G6PC3 |
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) |
SNV |
Uncertain Significance
|
1384667 |
|
GRCh37: 17:42151609-42151609 GRCh38: 17:44074241-44074241 |
29 |
G6PC3 |
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe) |
SNV |
Uncertain Significance
|
1402926 |
|
GRCh37: 17:42148517-42148517 GRCh38: 17:44071149-44071149 |
30 |
G6PC3 |
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) |
SNV |
Uncertain Significance
|
576699 |
rs375162061 |
GRCh37: 17:42148383-42148383 GRCh38: 17:44071015-44071015 |
31 |
G6PC3 |
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) |
SNV |
Uncertain Significance
|
1163100 |
|
GRCh37: 17:42153179-42153179 GRCh38: 17:44075811-44075811 |
32 |
G6PC3 |
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) |
SNV |
Uncertain Significance
|
1336708 |
|
GRCh37: 17:42153400-42153400 GRCh38: 17:44076032-44076032 |
33 |
G6PC3 |
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) |
SNV |
Uncertain Significance
|
1385278 |
|
GRCh37: 17:42153280-42153280 GRCh38: 17:44075912-44075912 |
34 |
G6PC3 |
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) |
SNV |
Uncertain Significance
|
1308391 |
|
GRCh37: 17:42152785-42152785 GRCh38: 17:44075417-44075417 |
35 |
G6PC3 |
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr) |
SNV |
Uncertain Significance
|
1362301 |
|
GRCh37: 17:42148419-42148419 GRCh38: 17:44071051-44071051 |
36 |
G6PC3 |
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) |
SNV |
Uncertain Significance
|
1439836 |
|
GRCh37: 17:42152134-42152134 GRCh38: 17:44074766-44074766 |
37 |
G6PC3 |
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) |
SNV |
Uncertain Significance
|
1465199 |
|
GRCh37: 17:42153102-42153102 GRCh38: 17:44075734-44075734 |
38 |
G6PC3 |
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) |
SNV |
Uncertain Significance
|
1469571 |
|
GRCh37: 17:42153101-42153101 GRCh38: 17:44075733-44075733 |
39 |
G6PC3 |
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) |
SNV |
Uncertain Significance
|
1470969 |
|
GRCh37: 17:42152080-42152080 GRCh38: 17:44074712-44074712 |
40 |
G6PC3 |
NM_138387.4(G6PC3):c.536-4C>G |
SNV |
Uncertain Significance
|
1473263 |
|
GRCh37: 17:42152674-42152674 GRCh38: 17:44075306-44075306 |
41 |
G6PC3 |
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) |
DEL |
Uncertain Significance
|
1492675 |
|
GRCh37: 17:42153174-42153176 GRCh38: 17:44075806-44075808 |
42 |
G6PC3 |
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) |
SNV |
Uncertain Significance
|
1470804 |
|
GRCh37: 17:42153307-42153307 GRCh38: 17:44075939-44075939 |
43 |
G6PC3 |
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) |
SNV |
Uncertain Significance
|
1472871 |
|
GRCh37: 17:42153106-42153106 GRCh38: 17:44075738-44075738 |
44 |
G6PC3 |
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr) |
SNV |
Uncertain Significance
|
1480794 |
|
GRCh37: 17:42148478-42148478 GRCh38: 17:44071110-44071110 |
45 |
G6PC3 |
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) |
SNV |
Uncertain Significance
|
1504493 |
|
GRCh37: 17:42153080-42153080 GRCh38: 17:44075712-44075712 |
46 |
G6PC3 |
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) |
SNV |
Uncertain Significance
|
1504772 |
|
GRCh37: 17:42148389-42148389 GRCh38: 17:44071021-44071021 |
47 |
G6PC3 |
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp) |
SNV |
Uncertain Significance
|
1514976 |
|
GRCh37: 17:42148431-42148431 GRCh38: 17:44071063-44071063 |
48 |
G6PC3 |
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser) |
SNV |
Uncertain Significance
|
1515006 |
|
GRCh37: 17:42148443-42148443 GRCh38: 17:44071075-44071075 |
49 |
G6PC3 |
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) |
SNV |
Uncertain Significance
|
850327 |
rs765872526 |
GRCh37: 17:42153194-42153194 GRCh38: 17:44075826-44075826 |
50 |
G6PC3 |
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) |
SNV |
Uncertain Significance
|
851336 |
rs776556492 |
GRCh37: 17:42153278-42153278 GRCh38: 17:44075910-44075910 |