1 |
ERCC2 |
NM_000400.4(ERCC2):c.184-1G>T |
SNV |
Pathogenic
|
627440 |
rs1568546120 |
GRCh37: 19:45872251-45872251 GRCh38: 19:45368993-45368993 |
2 |
ERCC2 |
NM_000400.4(ERCC2):c.298G>T (p.Glu100Ter) |
SNV |
Pathogenic
|
627441 |
rs964247601 |
GRCh37: 19:45871950-45871950 GRCh38: 19:45368692-45368692 |
3 |
ERCC2 |
NM_000400.4(ERCC2):c.121G>T (p.Glu41Ter) |
SNV |
Pathogenic
|
627442 |
rs1568546252 |
GRCh37: 19:45872390-45872390 GRCh38: 19:45369132-45369132 |
4 |
ERCC2 |
NM_000400.4(ERCC2):c.2176C>T (p.Gln726Ter) |
SNV |
Pathogenic
|
16780 |
rs121913017 |
GRCh37: 19:45855481-45855481 GRCh38: 19:45352223-45352223 |
5 |
ERCC2 |
NM_000400.4(ERCC2):c.1621A>C (p.Ser541Arg) |
SNV |
Pathogenic
|
16783 |
rs121913019 |
GRCh37: 19:45858032-45858032 GRCh38: 19:45354774-45354774 |
6 |
ERCC2 |
NM_000400.4(ERCC2):c.1454T>C (p.Leu485Pro) |
SNV |
Pathogenic
|
16791 |
rs121913025 |
GRCh37: 19:45860553-45860553 GRCh38: 19:45357295-45357295 |
7 |
ERCC2 |
NM_000400.4(ERCC2):c.2006_2007insA (p.Lys671fs) |
INSERT |
Pathogenic
|
1028729 |
rs1971844960 |
GRCh37: 19:45855803-45855804 GRCh38: 19:45352545-45352546 |
8 |
ERCC2 |
NM_000400.4(ERCC2):c.1759-2A>G |
SNV |
Pathogenic
|
1319438 |
|
GRCh37: 19:45856415-45856415 GRCh38: 19:45353157-45353157 |
9 |
ERCC2 |
NM_000400.4(ERCC2):c.1007dup (p.Leu337fs) |
DUP |
Pathogenic
|
1319444 |
|
GRCh37: 19:45867111-45867112 GRCh38: 19:45363853-45363854 |
10 |
ERCC2 |
NM_000400.4(ERCC2):c.949+5G>A |
SNV |
Pathogenic
|
1685772 |
|
GRCh37: 19:45867239-45867239 GRCh38: 19:45363981-45363981 |
11 |
ERCC2 |
NM_000400.4(ERCC2):c.851del (p.Glu284fs) |
DEL |
Pathogenic
|
1685773 |
|
GRCh37: 19:45867342-45867342 GRCh38: 19:45364084-45364084 |
12 |
ERCC2 |
NM_000400.4(ERCC2):c.1745_1747delinsTTTCGG (p.Glu582_Lys583delinsValSerGlu) |
INDEL |
Pathogenic
|
16790 |
|
GRCh37: 19:45856511-45856513 GRCh38: 19:45353253-45353255 |
13 |
ERCC2 |
NM_000400.4(ERCC2):c.1846C>T (p.Arg616Trp) |
SNV |
Pathogenic
|
16788 |
rs121913024 |
GRCh37: 19:45856060-45856060 GRCh38: 19:45352802-45352802 |
14 |
ERCC2 |
NM_000400.4(ERCC2):c.591_594del (p.Arg196_Tyr197insTer) |
DEL |
Pathogenic
|
1322829 |
|
GRCh37: 19:45868096-45868099 GRCh38: 19:45364838-45364841 |
15 |
ERCC2 |
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter) |
SNV |
Pathogenic
|
1319436 |
|
GRCh37: 19:45855826-45855826 GRCh38: 19:45352568-45352568 |
16 |
ERCC2 |
NM_000400.4(ERCC2):c.335G>A (p.Arg112His) |
SNV |
Pathogenic
|
16784 |
rs121913020 |
GRCh37: 19:45871913-45871913 GRCh38: 19:45368655-45368655 |
17 |
ERCC2 |
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro) |
SNV |
Pathogenic
Pathogenic
|
329508 |
rs376556895 |
GRCh37: 19:45856059-45856059 GRCh38: 19:45352801-45352801 |
18 |
ERCC2 |
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) |
SNV |
Pathogenic
|
16792 |
rs121913026 |
GRCh37: 19:45855493-45855493 GRCh38: 19:45352235-45352235 |
19 |
ERCC2 |
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp) |
SNV |
Pathogenic
Pathogenic
|
16793 |
rs41556519 |
GRCh37: 19:45855610-45855610 GRCh38: 19:45352352-45352352 |
20 |
ERCC2 |
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln) |
SNV |
Pathogenic
|
264679 |
rs758439420 |
GRCh37: 19:45855609-45855609 GRCh38: 19:45352351-45352351 |
21 |
ERCC2 |
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) |
DEL |
Pathogenic/Likely Pathogenic
|
134095 |
rs587778271 |
GRCh37: 19:45856554-45856555 GRCh38: 19:45353296-45353297 |
22 |
ERCC2 |
NM_000400.4(ERCC2):c.594+2_594+5del |
DEL |
Likely Pathogenic
|
402226 |
rs762309206 |
GRCh37: 19:45868091-45868094 GRCh38: 19:45364833-45364836 |
23 |
ERCC2 |
NM_000400.4(ERCC2):c.1972C>G (p.Arg658Gly) |
SNV |
Likely Pathogenic
|
1329484 |
|
GRCh37: 19:45855838-45855838 GRCh38: 19:45352580-45352580 |
24 |
ERCC2 |
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) |
SNV |
Likely Pathogenic
|
523368 |
rs764868582 |
GRCh37: 19:45855577-45855577 GRCh38: 19:45352319-45352319 |
25 |
ERCC2 |
NM_000400.4(ERCC2):c.2010C>T (p.Gly670=) |
SNV |
Likely Pathogenic
|
1162241 |
|
GRCh37: 19:45855800-45855800 GRCh38: 19:45352542-45352542 |
26 |
ERCC2 |
NM_000400.4(ERCC2):c.816-2A>G |
SNV |
Likely Pathogenic
|
631814 |
rs746795177 |
GRCh37: 19:45867379-45867379 GRCh38: 19:45364121-45364121 |
27 |
ERCC2 |
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
134114 |
rs142936491 |
GRCh37: 19:45868145-45868145 GRCh38: 19:45364887-45364887 |
28 |
ERCC2 |
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
134102 |
rs144564120 |
GRCh37: 19:45855507-45855507 GRCh38: 19:45352249-45352249 |
29 |
ERCC2 |
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
16779 |
rs121913016 |
GRCh37: 19:45860626-45860626 GRCh38: 19:45357368-45357368 |
30 |
ERCC2 |
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
329507 |
rs145835916 |
GRCh37: 19:45855905-45855905 GRCh38: 19:45352647-45352647 |
31 |
ERCC2 |
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) |
SNV |
Uncertain Significance
|
709003 |
rs16979773 |
GRCh37: 19:45856040-45856040 GRCh38: 19:45352782-45352782 |
32 |
ERCC2 |
NM_000400.4(ERCC2):c.930G>C (p.Leu310=) |
SNV |
Uncertain Significance
|
892700 |
rs1471014609 |
GRCh37: 19:45867263-45867263 GRCh38: 19:45364005-45364005 |
33 |
ERCC2 |
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) |
SNV |
Uncertain Significance
|
893462 |
rs368708674 |
GRCh37: 19:45856357-45856357 GRCh38: 19:45353099-45353099 |
34 |
ERCC2 |
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) |
SNV |
Uncertain Significance
|
738297 |
rs138038607 |
GRCh37: 19:45856383-45856383 GRCh38: 19:45353125-45353125 |
35 |
ERCC2 |
NM_000400.4(ERCC2):c.1363A>G (p.Ile455Val) |
SNV |
Uncertain Significance
|
329513 |
rs754585006 |
GRCh37: 19:45860746-45860746 GRCh38: 19:45357488-45357488 |
36 |
ERCC2 |
NM_000400.4(ERCC2):c.1644C>T (p.Thr548=) |
SNV |
Uncertain Significance
|
329510 |
rs375824454 |
GRCh37: 19:45858009-45858009 GRCh38: 19:45354751-45354751 |
37 |
ERCC2 |
NM_000400.4(ERCC2):c.2142C>G (p.Val714=) |
SNV |
Uncertain Significance
|
329503 |
rs546902024 |
GRCh37: 19:45855515-45855515 GRCh38: 19:45352257-45352257 |
38 |
ERCC2 |
NM_000400.4(ERCC2):c.988C>T (p.Leu330=) |
SNV |
Uncertain Significance
|
329517 |
rs146022050 |
GRCh37: 19:45867131-45867131 GRCh38: 19:45363873-45363873 |
39 |
ERCC2 |
NM_000400.4(ERCC2):c.1276C>T (p.Pro426Ser) |
SNV |
Uncertain Significance
|
329514 |
rs577723968 |
GRCh37: 19:45860919-45860919 GRCh38: 19:45357661-45357661 |
40 |
ERCC2 |
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) |
SNV |
Uncertain Significance
|
329506 |
rs762985501 |
GRCh37: 19:45855848-45855848 GRCh38: 19:45352590-45352590 |
41 |
ERCC2 |
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=) |
SNV |
Uncertain Significance
|
329504 |
rs147128863 |
GRCh37: 19:45855530-45855530 GRCh38: 19:45352272-45352272 |
42 |
ERCC2 |
NM_000400.4(ERCC2):c.749A>C (p.Asn250Thr) |
SNV |
Uncertain Significance
|
329523 |
rs753889198 |
GRCh37: 19:45867559-45867559 GRCh38: 19:45364301-45364301 |
43 |
ERCC2 |
NM_000400.4(ERCC2):c.552G>C (p.Gly184=) |
SNV |
Uncertain Significance
|
750391 |
rs769750286 |
GRCh37: 19:45868138-45868138 GRCh38: 19:45364880-45364880 |
44 |
ERCC2 |
NM_000400.4(ERCC2):c.2247G>A (p.Thr749=) |
SNV |
Uncertain Significance
|
893739 |
rs200756227 |
GRCh37: 19:45854923-45854923 GRCh38: 19:45351665-45351665 |
45 |
ERCC2 |
NM_000400.4(ERCC2):c.1725C>T (p.Ala575=) |
SNV |
Uncertain Significance
|
893765 |
rs116544270 |
GRCh37: 19:45856533-45856533 GRCh38: 19:45353275-45353275 |
46 |
ERCC2 |
NM_000400.4(ERCC2):c.527A>G (p.Asn176Ser) |
SNV |
Uncertain Significance
|
893795 |
rs146137795 |
GRCh37: 19:45868163-45868163 GRCh38: 19:45364905-45364905 |
47 |
ERCC2 |
NM_000400.4(ERCC2):c.1027C>T (p.Arg343Trp) |
SNV |
Uncertain Significance
|
1319443 |
|
GRCh37: 19:45867092-45867092 GRCh38: 19:45363834-45363834 |
48 |
ERCC2 |
NM_000400.4(ERCC2):c.832G>A (p.Glu278Lys) |
SNV |
Uncertain Significance
|
1319428 |
|
GRCh37: 19:45867361-45867361 GRCh38: 19:45364103-45364103 |
49 |
ERCC2 |
NM_000400.4(ERCC2):c.57C>T (p.Pro19=) |
SNV |
Uncertain Significance
|
894711 |
rs369106754 |
GRCh37: 19:45873439-45873439 GRCh38: 19:45370181-45370181 |
50 |
ERCC2 |
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) |
SNV |
Uncertain Significance
|
754097 |
rs202156896 |
GRCh37: 19:45872355-45872355 GRCh38: 19:45369097-45369097 |