1 |
EGLN1 |
NM_022051.2(EGLN1):c.950C>G (p.Pro317Arg) |
SNV |
Pathogenic |
4355 |
rs80358193 |
1:231509787-231509787 |
1:231374041-231374041 |
2 |
EGLN1 |
NM_022051.2(EGLN1):c.1112G>A (p.Arg371His) |
SNV |
Pathogenic |
4356 |
rs119476044 |
1:231506344-231506344 |
1:231370598-231370598 |
3 |
EGLN1 |
NM_022051.2(EGLN1):c.1121A>G (p.His374Arg) |
SNV |
Pathogenic |
4357 |
rs119476045 |
1:231506335-231506335 |
1:231370589-231370589 |
4 |
EPAS1 |
NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp) |
SNV |
Pathogenic |
6468 |
rs137853036 |
2:46607420-46607420 |
2:46380281-46380281 |
5 |
EPAS1 |
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) |
SNV |
Pathogenic |
6469 |
rs137853036 |
2:46607420-46607420 |
2:46380281-46380281 |
6 |
EPAS1 |
NM_001430.5(EPAS1):c.1603A>G (p.Met535Val) |
SNV |
Pathogenic |
6470 |
rs137853037 |
2:46607414-46607414 |
2:46380275-46380275 |
7 |
EGLN1 |
NM_022051.2(EGLN1):c.461C>A (p.Ser154Ter) |
SNV |
Pathogenic |
649669 |
rs1018129986 |
1:231557174-231557174 |
1:231421428-231421428 |
8 |
EGLN1 |
NM_022051.2(EGLN1):c.558G>C (p.Lys186Asn) |
SNV |
Conflicting interpretations of pathogenicity |
465825 |
rs201365992 |
1:231557077-231557077 |
1:231421331-231421331 |
9 |
EPAS1 |
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) |
SNV |
Conflicting interpretations of pathogenicity |
336261 |
rs150797491 |
2:46603764-46603764 |
2:46376625-46376625 |
10 |
EGLN1 |
NM_022051.2(EGLN1):c.287C>T (p.Ala96Val) |
SNV |
Conflicting interpretations of pathogenicity |
407206 |
rs113401862 |
1:231557348-231557348 |
1:231421602-231421602 |
11 |
EGLN1 |
NM_022051.2(EGLN1):c.833A>G (p.Asp278Gly) |
SNV |
Uncertain significance |
407208 |
rs753303580 |
1:231556802-231556802 |
1:231421056-231421056 |
12 |
EGLN1 |
NM_022051.2(EGLN1):c.-901T>C |
SNV |
Uncertain significance |
296218 |
rs886046125 |
1:231558535-231558535 |
1:231422789-231422789 |
13 |
EGLN1 |
NM_022051.2(EGLN1):c.-720C>T |
SNV |
Uncertain significance |
296215 |
rs886046123 |
1:231558354-231558354 |
1:231422608-231422608 |
14 |
EGLN1 |
NM_022051.2(EGLN1):c.311C>T (p.Ser104Phe) |
SNV |
Uncertain significance |
407205 |
rs551207815 |
1:231557324-231557324 |
1:231421578-231421578 |
15 |
EPAS1 |
NM_001430.5(EPAS1):c.-347T>G |
SNV |
Uncertain significance |
336222 |
rs192684713 |
2:46524704-46524704 |
2:46297565-46297565 |
16 |
EGLN1 |
NM_022051.2(EGLN1):c.*603C>A |
SNV |
Uncertain significance |
296175 |
rs886046104 |
1:231501554-231501554 |
1:231365808-231365808 |
17 |
EPAS1 |
NM_001430.5(EPAS1):c.-231C>G |
SNV |
Uncertain significance |
336225 |
rs750848838 |
2:46524820-46524820 |
2:46297681-46297681 |
18 |
EGLN1 |
NM_022051.2(EGLN1):c.-470C>T |
SNV |
Uncertain significance |
296206 |
rs886046118 |
1:231558104-231558104 |
1:231422358-231422358 |
19 |
EGLN1 |
NM_022051.2(EGLN1):c.*663C>T |
SNV |
Uncertain significance |
296172 |
rs375652885 |
1:231501494-231501494 |
1:231365748-231365748 |
20 |
EPAS1 |
NM_001430.5(EPAS1):c.*833G>A |
SNV |
Uncertain significance |
336302 |
rs539023852 |
2:46612632-46612632 |
2:46385493-46385493 |
21 |
EPAS1 |
NM_001430.5(EPAS1):c.-138G>T |
SNV |
Uncertain significance |
336228 |
rs886056081 |
2:46524913-46524913 |
2:46297774-46297774 |
22 |
EPAS1 |
NM_001430.5(EPAS1):c.*527G>T |
SNV |
Uncertain significance |
336291 |
rs886056091 |
2:46612326-46612326 |
2:46385187-46385187 |
23 |
EGLN1 |
NM_022051.2(EGLN1):c.-2567C>T |
SNV |
Uncertain significance |
296238 |
rs193048016 |
1:231560201-231560201 |
1:231424455-231424455 |
24 |
EPAS1 |
NM_001430.5(EPAS1):c.*1225C>T |
SNV |
Uncertain significance |
336308 |
rs553535570 |
2:46613024-46613024 |
2:46385885-46385885 |
25 |
EGLN1 |
NM_022051.2(EGLN1):c.53G>A (p.Arg18Gln) |
SNV |
Uncertain significance |
296196 |
rs886046112 |
1:231557582-231557582 |
1:231421836-231421836 |
26 |
EGLN1 |
NM_022051.2(EGLN1):c.-111G>A |
SNV |
Uncertain significance |
296198 |
rs886046113 |
1:231557745-231557745 |
1:231421999-231421999 |
27 |
EGLN1 |
NM_022051.3(EGLN1):c.32C>T (p.Pro11Leu) |
SNV |
Uncertain significance |
838336 |
|
1:231557603-231557603 |
1:231421857-231421857 |
28 |
EGLN1 |
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala) |
SNV |
Uncertain significance |
840052 |
|
1:231557222-231557222 |
1:231421476-231421476 |
29 |
EGLN1 |
NM_022051.3(EGLN1):c.1216+6C>T |
SNV |
Uncertain significance |
840447 |
|
1:231503309-231503309 |
1:231367563-231367563 |
30 |
EGLN1 |
NM_022051.3(EGLN1):c.353C>A (p.Ala118Asp) |
SNV |
Uncertain significance |
844180 |
|
1:231557282-231557282 |
1:231421536-231421536 |
31 |
EGLN1 |
NM_022051.3(EGLN1):c.925G>T (p.Gly309Cys) |
SNV |
Uncertain significance |
850333 |
|
1:231509812-231509812 |
1:231374066-231374066 |
32 |
EGLN1 |
NM_022051.3(EGLN1):c.202G>C (p.Gly68Arg) |
SNV |
Uncertain significance |
855907 |
|
1:231557433-231557433 |
1:231421687-231421687 |
33 |
EGLN1 |
NM_022051.3(EGLN1):c.491C>T (p.Pro164Leu) |
SNV |
Uncertain significance |
858421 |
|
1:231557144-231557144 |
1:231421398-231421398 |
34 |
EGLN1 |
NM_022051.3(EGLN1):c.817A>G (p.Met273Val) |
SNV |
Uncertain significance |
860638 |
|
1:231556818-231556818 |
1:231421072-231421072 |
35 |
EGLN1 |
NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile) |
SNV |
Uncertain significance |
863658 |
|
1:231502165-231502165 |
1:231366419-231366419 |
36 |
EGLN1 |
NM_022051.3(EGLN1):c.*1854T>G |
SNV |
Uncertain significance |
874223 |
|
1:231500303-231500303 |
1:231364557-231364557 |
37 |
EGLN1 |
NM_022051.3(EGLN1):c.*1825G>A |
SNV |
Uncertain significance |
874224 |
|
1:231500332-231500332 |
1:231364586-231364586 |
38 |
EGLN1 |
NM_022051.3(EGLN1):c.*1326T>C |
SNV |
Uncertain significance |
874225 |
|
1:231500831-231500831 |
1:231365085-231365085 |
39 |
EGLN1 |
NM_022051.3(EGLN1):c.597G>C (p.Val199=) |
SNV |
Uncertain significance |
874270 |
|
1:231557038-231557038 |
1:231421292-231421292 |
40 |
EGLN1 |
NC_000001.11:g.231422311C>T |
SNV |
Uncertain significance |
874328 |
|
1:231558057-231558057 |
1:231422311-231422311 |
41 |
EGLN1 |
NC_000001.11:g.231422394G>A |
SNV |
Uncertain significance |
874329 |
|
1:231558140-231558140 |
1:231422394-231422394 |
42 |
EGLN1 |
NM_022051.2(EGLN1):c.405C>T (p.Gly135=) |
SNV |
Uncertain significance |
465824 |
rs781566823 |
1:231557230-231557230 |
1:231421484-231421484 |
43 |
EGLN1 |
NM_022051.2(EGLN1):c.419C>T (p.Ala140Val) |
SNV |
Uncertain significance |
407204 |
rs768557500 |
1:231557216-231557216 |
1:231421470-231421470 |
44 |
EGLN1 |
NM_022051.2(EGLN1):c.867C>G (p.Ser289Arg) |
SNV |
Uncertain significance |
407207 |
rs763045676 |
1:231556768-231556768 |
1:231421022-231421022 |
45 |
EGLN1 |
NM_022051.2(EGLN1):c.892-11_892-6del |
Deletion |
Uncertain significance |
650974 |
rs748954220 |
1:231509851-231509856 |
1:231374105-231374110 |
46 |
EGLN1 |
NM_022051.2(EGLN1):c.1244A>G (p.Asn415Ser) |
SNV |
Uncertain significance |
661092 |
rs748926816 |
1:231502194-231502194 |
1:231366448-231366448 |
47 |
EGLN1 |
NM_022051.2(EGLN1):c.366_389dup (p.Ala124_Ala131dup) |
Duplication |
Uncertain significance |
665404 |
rs1470968362 |
1:231557245-231557246 |
1:231421499-231421500 |
48 |
EGLN1 |
NM_022051.2(EGLN1):c.245C>T (p.Ala82Val) |
SNV |
Uncertain significance |
534224 |
rs771498926 |
1:231557390-231557390 |
1:231421644-231421644 |
49 |
EGLN1 |
NM_022051.2(EGLN1):c.122_124del (p.Tyr41del) |
Deletion |
Uncertain significance |
534225 |
rs1182227189 |
1:231557511-231557513 |
1:231421765-231421767 |
50 |
EGLN1 |
NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu) |
SNV |
Uncertain significance |
296193 |
rs796280222 |
1:231557276-231557276 |
1:231421530-231421530 |