1 |
CHEK2 |
NM_007194.4(CHEK2):c.444+2T>C |
SNV |
Pathogenic
|
422638 |
rs560596101 |
GRCh37: 22:29121229-29121229 GRCh38: 22:28725241-28725241 |
2 |
CHEK2 |
NM_007194.4(CHEK2):c.444+1G>A |
SNV |
Pathogenic
Pathogenic
Pathogenic
|
128075 |
rs121908698 |
GRCh37: 22:29121230-29121230 GRCh38: 22:28725242-28725242 |
3 |
CHEK2 |
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) |
SNV |
Pathogenic
|
439092 |
rs200917541 |
GRCh37: 22:29121258-29121258 GRCh38: 22:28725270-28725270 |
4 |
CHEK2 |
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) |
SNV |
Pathogenic
|
182452 |
rs730881701 |
GRCh37: 22:29121266-29121266 GRCh38: 22:28725278-28725278 |
5 |
CHEK2 |
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) |
SNV |
Pathogenic
|
141381 |
rs587781705 |
GRCh37: 22:29130494-29130494 GRCh38: 22:28734506-28734506 |
6 |
CHEK2 |
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) |
SNV |
Pathogenic
|
5603 |
rs137853011 |
GRCh37: 22:29091207-29091207 GRCh38: 22:28695219-28695219 |
7 |
CHEK2 |
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) |
DEL |
Pathogenic
Pathogenic
|
128042 |
rs555607708 |
GRCh37: 22:29091857-29091857 GRCh38: 22:28695869-28695869 |
8 |
CHEK2 |
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) |
SNV |
Pathogenic
Likely Pathogenic
|
5591 |
rs17879961 |
GRCh37: 22:29121087-29121087 GRCh38: 22:28725099-28725099 |
9 |
CHEK2 |
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) |
SNV |
Pathogenic
|
5592 |
rs137853007 |
GRCh37: 22:29121242-29121242 GRCh38: 22:28725254-28725254 |
10 |
CHEK2 |
NM_007194.4(CHEK2):c.1425del (p.Phe475fs) |
DEL |
Pathogenic
|
5593 |
|
GRCh37: 22:29090056-29090056 GRCh38: 22:28694068-28694068 |
11 |
CHEK2 |
NM_007194.4(CHEK2):c.320-5T>A |
SNV |
Pathogenic
|
128070 |
rs121908700 |
GRCh37: 22:29121360-29121360 GRCh38: 22:28725372-28725372 |
12 |
CHEK2 |
NM_007194.4(CHEK2):c.592+3A>T |
SNV |
Pathogenic
|
142956 |
rs587782849 |
GRCh37: 22:29120962-29120962 GRCh38: 22:28724974-28724974 |
13 |
CHEK2 |
NM_007194.4(CHEK2):c.846+4_846+7del |
DEL |
Pathogenic
|
216652 |
rs764884641 |
GRCh37: 22:29105987-29105990 GRCh38: 22:28709999-28710002 |
14 |
CHEK2 |
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) |
SNV |
Pathogenic
|
530096 |
rs905674348 |
GRCh37: 22:29121336-29121336 GRCh38: 22:28725348-28725348 |
15 |
CHEK2 |
NM_007194.4(CHEK2):c.277del (p.Trp93fs) |
DEL |
Pathogenic
|
187085 |
rs786203458 |
GRCh37: 22:29130433-29130433 GRCh38: 22:28734445-28734445 |
16 |
CHEK2 |
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) |
SNV |
Likely Pathogenic
|
128071 |
rs28909982 |
GRCh37: 22:29121326-29121326 GRCh38: 22:28725338-28725338 |
17 |
CHEK2 |
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) |
SNV |
Likely Pathogenic
|
128064 |
rs200432447 |
GRCh37: 22:29083962-29083962 GRCh38: 22:28687974-28687974 |
18 |
CHEK2 |
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) |
DEL |
Likely Pathogenic
|
479550 |
rs765664259 |
GRCh37: 22:29091719-29091719 GRCh38: 22:28695731-28695731 |
19 |
CHEK2 |
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) |
SNV |
Likely Pathogenic
|
491635 |
rs786201896 |
GRCh37: 22:29107932-29107932 GRCh38: 22:28711944-28711944 |
20 |
CHEK2 |
NM_007194.4(CHEK2):c.319+2T>A |
SNV |
Likely Pathogenic
|
142352 |
rs587782401 |
GRCh37: 22:29130389-29130389 GRCh38: 22:28734401-28734401 |
21 |
CHEK2 |
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) |
SNV |
Likely Pathogenic
|
142448 |
rs587782471 |
GRCh37: 22:29107982-29107982 GRCh38: 22:28711994-28711994 |
22 |
CHEK2 |
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) |
SNV |
Likely Pathogenic
|
128089 |
rs587780192 |
GRCh37: 22:29095917-29095917 GRCh38: 22:28699929-28699929 |
23 |
CHEK2 |
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) |
SNV |
Uncertain Significance
|
140933 |
rs141776984 |
GRCh37: 22:29107962-29107962 GRCh38: 22:28711974-28711974 |
24 |
CHEK2 |
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) |
SNV |
Uncertain Significance
|
142151 |
rs587782268 |
GRCh37: 22:29092931-29092931 GRCh38: 22:28696943-28696943 |
25 |
CHEK2 |
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) |
SNV |
Uncertain Significance
|
128076 |
rs72552323 |
GRCh37: 22:29121078-29121078 GRCh38: 22:28725090-28725090 |
26 |
CHEK2 |
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) |
SNV |
Uncertain Significance
Uncertain Significance
|
128056 |
rs200050883 |
GRCh37: 22:29091178-29091178 GRCh38: 22:28695190-28695190 |
27 |
CHEK2 |
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) |
SNV |
Uncertain Significance
Uncertain Significance
|
5598 |
rs121908701 |
GRCh37: 22:29121015-29121015 GRCh38: 22:28725027-28725027 |
28 |
CHEK2 |
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) |
SNV |
Uncertain Significance
|
128054 |
rs139366548 |
GRCh37: 22:29091220-29091220 GRCh38: 22:28695232-28695232 |
29 |
CHEK2 |
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) |
SNV |
Uncertain Significance
|
140938 |
rs564605612 |
GRCh37: 22:29090030-29090030 GRCh38: 22:28694042-28694042 |
30 |
CHEK2 |
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) |
SNV |
Uncertain Significance
|
141977 |
rs146198085 |
GRCh37: 22:29121001-29121001 GRCh38: 22:28725013-28725013 |
31 |
CHEK2 |
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) |
SNV |
Uncertain Significance
|
128066 |
rs587780180 |
GRCh37: 22:29083961-29083961 GRCh38: 22:28687973-28687973 |
32 |
CHEK2 |
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) |
SNV |
Uncertain Significance
|
128092 |
rs587780194 |
GRCh37: 22:29095854-29095854 GRCh38: 22:28699866-28699866 |
33 |
CHEK2 |
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) |
SNV |
Uncertain Significance
|
126909 |
rs121908705 |
GRCh37: 22:29091154-29091154 GRCh38: 22:28695166-28695166 |
34 |
CHEK2 |
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) |
SNV |
Uncertain Significance
|
142533 |
rs587782527 |
GRCh37: 22:29091741-29091741 GRCh38: 22:28695753-28695753 |
35 |
CHEK2 |
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) |
SNV |
Uncertain Significance
|
182445 |
rs730881695 |
GRCh37: 22:29130540-29130540 GRCh38: 22:28734552-28734552 |
36 |
CHEK2 |
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) |
SNV |
Uncertain Significance
|
141856 |
rs17882942 |
GRCh37: 22:29085131-29085131 GRCh38: 22:28689143-28689143 |
37 |
CHEK2 |
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) |
SNV |
Uncertain Significance
|
128063 |
rs587780179 |
GRCh37: 22:29085140-29085140 GRCh38: 22:28689152-28689152 |
38 |
CHEK2 |
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) |
SNV |
Uncertain Significance
|
142479 |
rs587782489 |
GRCh37: 22:29085155-29085155 GRCh38: 22:28689167-28689167 |
39 |
CHEK2 |
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) |
SNV |
Uncertain Significance
|
128059 |
rs540635787 |
GRCh37: 22:29090061-29090061 GRCh38: 22:28694073-28694073 |
40 |
CHEK2 |
NM_007194.4(CHEK2):c.1375+3A>G |
SNV |
Uncertain Significance
|
232607 |
rs876659868 |
GRCh37: 22:29091112-29091112 GRCh38: 22:28695124-28695124 |
41 |
CHEK2 |
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) |
SNV |
Uncertain Significance
|
128050 |
rs587780171 |
GRCh37: 22:29091742-29091742 GRCh38: 22:28695754-28695754 |
42 |
CHEK2 |
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) |
SNV |
Uncertain Significance
|
182435 |
rs730881690 |
GRCh37: 22:29091779-29091779 GRCh38: 22:28695791-28695791 |
43 |
CHEK2 |
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) |
SNV |
Uncertain Significance
|
140959 |
rs375130261 |
GRCh37: 22:29091816-29091816 GRCh38: 22:28695828-28695828 |
44 |
CHEK2 |
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) |
SNV |
Uncertain Significance
|
128046 |
rs587780167 |
GRCh37: 22:29091824-29091824 GRCh38: 22:28695836-28695836 |
45 |
CHEK2 |
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) |
SNV |
Uncertain Significance
|
128044 |
rs531398630 |
GRCh37: 22:29091846-29091846 GRCh38: 22:28695858-28695858 |
46 |
CHEK2 |
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) |
SNV |
Uncertain Significance
|
230025 |
rs876658337 |
GRCh37: 22:29092906-29092906 GRCh38: 22:28696918-28696918 |
47 |
CHEK2 |
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) |
SNV |
Uncertain Significance
|
142222 |
rs201206424 |
GRCh37: 22:29092948-29092948 GRCh38: 22:28696960-28696960 |
48 |
CHEK2 |
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) |
SNV |
Uncertain Significance
|
182457 |
rs730881705 |
GRCh37: 22:29092960-29092960 GRCh38: 22:28696972-28696972 |
49 |
CHEK2 |
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) |
SNV |
Uncertain Significance
|
420003 |
rs750984976 |
GRCh37: 22:29095867-29095867 GRCh38: 22:28699879-28699879 |
50 |
CHEK2 |
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) |
SNV |
Uncertain Significance
|
410041 |
rs752302543 |
GRCh37: 22:29095897-29095897 GRCh38: 22:28699909-28699909 |