1 |
PALB2 |
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) |
SNV |
Pathogenic, risk factor |
126729 |
rs587776527 |
16:23619279-23619279 |
16:23607958-23607958 |
2 |
PALB2 |
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter) |
SNV |
Pathogenic |
128117 |
rs180177100 |
16:23646627-23646627 |
16:23635306-23635306 |
3 |
PALB2 |
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) |
SNV |
Pathogenic |
128144 |
rs118203998 |
16:23614792-23614792 |
16:23603471-23603471 |
4 |
PALB2 |
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter) |
SNV |
Pathogenic |
128144 |
rs118203998 |
16:23614792-23614792 |
16:23603471-23603471 |
5 |
PALB2 |
NM_024675.3(PALB2):c.106C>T (p.Gln36Ter) |
SNV |
Pathogenic |
402288 |
rs757369748 |
16:23649393-23649393 |
16:23638072-23638072 |
6 |
PALB2 |
NM_024675.3(PALB2):c.2509G>T (p.Glu837Ter) |
SNV |
Pathogenic |
241546 |
rs587778587 |
16:23640966-23640966 |
16:23629645-23629645 |
7 |
PALB2 |
NM_024675.3(PALB2):c.2120del (p.Pro707fs) |
Deletion |
Pathogenic |
128128 |
rs587780210 |
16:23641355-23641355 |
16:23630034-23630034 |
8 |
PALB2 |
NM_024675.4(PALB2):c.509_510del |
Deletion |
Pathogenic |
126757 |
rs515726123 |
16:23647357-23647358 |
16:23636036-23636037 |
9 |
PALB2 |
NM_024675.3(PALB2):c.226del (p.Ile76fs) |
Deletion |
Pathogenic |
142408 |
rs587782443 |
16:23647641-23647641 |
16:23636320-23636320 |
10 |
PALB2 |
NM_024675.3(PALB2):c.2834+1G>T |
SNV |
Pathogenic |
143968 |
rs587776419 |
16:23635329-23635329 |
16:23624008-23624008 |
11 |
PALB2 |
NM_024675.3(PALB2):c.2515-1G>A |
SNV |
Likely pathogenic |
582926 |
rs587776417 |
16:23640597-23640597 |
16:23629276-23629276 |
12 |
PALB2 |
NM_024675.4(PALB2):c.108+1G>A |
SNV |
Likely pathogenic |
402289 |
rs1060499814 |
16:23649390-23649390 |
16:23638069-23638069 |
13 |
PALB2 |
NM_024675.3(PALB2):c.3116del (p.Asn1039fs) |
Deletion |
risk factor |
126715 |
rs180177133 |
16:23625410-23625410 |
16:23614089-23614089 |
14 |
PALB2 |
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs) |
Deletion |
Likely pathogenic |
979078 |
|
16:23634311-23634312 |
16:23622990-23622991 |
15 |
PALB2 |
PALB2:c.2515-1G>T |
SNV |
risk factor |
126657 |
rs587776417 |
16:23640597-23640597 |
16:23629276-23629276 |
16 |
PALB2 |
NM_024675.4(PALB2):c.168_171TTGT[1] (p.Gln60fs) |
Microsatellite |
risk factor |
126623 |
rs180177143 |
16:23649207-23649210 |
16:23637886-23637889 |
17 |
PALB2 |
NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe) |
SNV |
Uncertain significance |
979137 |
|
16:23646568-23646568 |
16:23635247-23635247 |
18 |
PALB2 |
NM_024675.3(PALB2):c.2641G>A (p.Gly881Ser) |
SNV |
Uncertain significance |
460951 |
rs766315705 |
16:23637664-23637664 |
16:23626343-23626343 |
19 |
PALB2 |
NM_024675.3(PALB2):c.2660T>G (p.Ile887Ser) |
SNV |
Uncertain significance |
484201 |
rs45550935 |
16:23637645-23637645 |
16:23626324-23626324 |
20 |
PALB2 |
NM_024675.3(PALB2):c.3025C>T (p.Pro1009Ser) |
SNV |
Uncertain significance |
419928 |
rs764669864 |
16:23632771-23632771 |
16:23621450-23621450 |
21 |
PALB2 |
NM_024675.3(PALB2):c.3054G>T (p.Glu1018Asp) |
SNV |
Uncertain significance |
420826 |
rs183489969 |
16:23632742-23632742 |
16:23621421-23621421 |
22 |
PALB2 |
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) |
SNV |
Uncertain significance |
126593 |
rs45619737 |
16:23652468-23652468 |
16:23641147-23641147 |
23 |
PALB2 |
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) |
SNV |
Uncertain significance |
126681 |
rs180177125 |
16:23635391-23635391 |
16:23624070-23624070 |
24 |
PALB2 |
NM_024675.3(PALB2):c.3307G>C (p.Val1103Leu) |
SNV |
Uncertain significance |
141974 |
rs201657283 |
16:23619228-23619228 |
16:23607907-23607907 |
25 |
PALB2 |
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) |
SNV |
Uncertain significance |
126727 |
rs62625271 |
16:23619284-23619284 |
16:23607963-23607963 |
26 |
PALB2 |
NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys) |
SNV |
Uncertain significance |
216753 |
rs747785029 |
16:23619288-23619288 |
16:23607967-23607967 |
27 |
PALB2 |
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) |
SNV |
Uncertain significance |
128136 |
rs587780214 |
16:23634389-23634389 |
16:23623068-23623068 |
28 |
PALB2 |
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) |
SNV |
Uncertain significance |
126694 |
rs515726103 |
16:23634417-23634417 |
16:23623096-23623096 |
29 |
PALB2 |
NM_024675.3(PALB2):c.2473A>G (p.Arg825Gly) |
SNV |
Uncertain significance |
402299 |
rs745747228 |
16:23641002-23641002 |
16:23629681-23629681 |
30 |
PALB2 |
NM_024675.3(PALB2):c.2026A>C (p.Ile676Leu) |
SNV |
Uncertain significance |
484244 |
rs761478794 |
16:23641449-23641449 |
16:23630128-23630128 |
31 |
PALB2 |
NM_024675.3(PALB2):c.1759G>A (p.Ala587Thr) |
SNV |
Uncertain significance |
410106 |
rs1060502733 |
16:23641716-23641716 |
16:23630395-23630395 |
32 |
PALB2 |
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) |
SNV |
Uncertain significance |
141709 |
rs587781954 |
16:23641719-23641719 |
16:23630398-23630398 |
33 |
PALB2 |
NM_024675.3(PALB2):c.1526G>A (p.Gly509Asp) |
SNV |
Uncertain significance |
186732 |
rs786203176 |
16:23646341-23646341 |
16:23635020-23635020 |
34 |
PALB2 |
NM_024675.3(PALB2):c.1348A>C (p.Asn450His) |
SNV |
Uncertain significance |
128119 |
rs62625274 |
16:23646519-23646519 |
16:23635198-23635198 |
35 |
PALB2 |
NM_024675.3(PALB2):c.1340C>A (p.Ala447Glu) |
SNV |
Uncertain significance |
480285 |
rs1555461334 |
16:23646527-23646527 |
16:23635206-23635206 |
36 |
PALB2 |
NM_024675.3(PALB2):c.1316G>T (p.Gly439Val) |
SNV |
Uncertain significance |
188096 |
rs537258442 |
16:23646551-23646551 |
16:23635230-23635230 |
37 |
PALB2 |
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr) |
SNV |
Uncertain significance |
188377 |
rs786204243 |
16:23646752-23646752 |
16:23635431-23635431 |
38 |
PALB2 |
NM_024675.3(PALB2):c.968C>A (p.Ala323Glu) |
SNV |
Uncertain significance |
182760 |
rs730881882 |
16:23646899-23646899 |
16:23635578-23635578 |
39 |
PALB2 |
NM_024675.3(PALB2):c.187C>T (p.Leu63Phe) |
SNV |
Uncertain significance |
182780 |
rs730881899 |
16:23649195-23649195 |
16:23637874-23637874 |
40 |
PALB2 |
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) |
SNV |
Uncertain significance |
128124 |
rs62625272 |
16:23649188-23649188 |
16:23637867-23637867 |
41 |
PALB2 |
NM_024675.3(PALB2):c.1222T>C (p.Tyr408His) |
SNV |
Uncertain significance |
126594 |
rs515726064 |
16:23646645-23646645 |
16:23635324-23635324 |
42 |
PALB2 |
NM_024675.3(PALB2):c.1732A>G (p.Ser578Gly) |
SNV |
Uncertain significance |
229738 |
rs764023822 |
16:23641743-23641743 |
16:23630422-23630422 |
43 |
PALB2 |
NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu) |
SNV |
Uncertain significance |
141063 |
rs45464991 |
16:23641058-23641058 |
16:23629737-23629737 |
44 |
PALB2 |
NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro) |
SNV |
Uncertain significance |
126741 |
rs62625284 |
16:23614913-23614913 |
16:23603592-23603592 |
45 |
PALB2 |
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) |
SNV |
Uncertain significance |
126740 |
rs62625284 |
16:23614913-23614913 |
16:23603592-23603592 |
46 |
PALB2 |
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) |
SNV |
Uncertain significance |
126681 |
rs180177125 |
16:23635391-23635391 |
16:23624070-23624070 |
47 |
PALB2 |
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) |
SNV |
Uncertain significance |
232748 |
rs756778249 |
16:23646327-23646327 |
16:23635006-23635006 |