1 |
PIK3CA |
NM_006218.4(PIK3CA):c.3062A>G (p.Tyr1021Cys) |
SNV |
Pathogenic
|
376246 |
rs121913288 |
GRCh37: 3:178952007-178952007 GRCh38: 3:179234219-179234219 |
2 |
PIK3CA |
NM_006218.4(PIK3CA):c.1133G>A (p.Cys378Tyr) |
SNV |
Pathogenic
|
39704 |
rs397514565 |
GRCh37: 3:178922364-178922364 GRCh38: 3:179204576-179204576 |
3 |
PIK3CA |
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) |
SNV |
Pathogenic
|
419222 |
rs1064793732 |
GRCh37: 3:178922324-178922324 GRCh38: 3:179204536-179204536 |
4 |
PIK3CA |
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) |
SNV |
Pathogenic
|
217292 |
rs121913283 |
GRCh37: 3:178952074-178952074 GRCh38: 3:179234286-179234286 |
5 |
PIK3CA |
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln) |
SNV |
Pathogenic
|
376049 |
rs121913287 |
GRCh37: 3:178916876-178916876 GRCh38: 3:179199088-179199088 |
6 |
PIK3CA |
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) |
SNV |
Pathogenic
|
376498 |
rs1057519942 |
GRCh37: 3:178921548-178921548 GRCh38: 3:179203760-179203760 |
7 |
PIK3CA |
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) |
SNV |
Pathogenic
|
39705 |
rs121913281 |
GRCh37: 3:178952084-178952084 GRCh38: 3:179234296-179234296 |
8 |
PIK3CA |
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) |
SNV |
Pathogenic
|
179173 |
rs121913283 |
GRCh37: 3:178952074-178952074 GRCh38: 3:179234286-179234286 |
9 |
PTEN |
NM_000314.8(PTEN):c.767_768del (p.Glu256fs) |
MICROSAT |
Pathogenic
|
224547 |
rs869312780 |
GRCh37: 10:89717740-89717741 GRCh38: 10:87957983-87957984 |
10 |
PTEN |
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter) |
SNV |
Pathogenic
|
224545 |
rs869312778 |
GRCh37: 10:89653820-89653820 GRCh38: 10:87894063-87894063 |
11 |
PIK3CA |
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) |
SNV |
Pathogenic
|
376470 |
rs1057519925 |
GRCh37: 3:178928079-178928079 GRCh38: 3:179210291-179210291 |
12 |
PTEN |
NM_000314.8(PTEN):c.424del (p.Arg142fs) |
DEL |
Pathogenic
|
224546 |
rs869312779 |
GRCh37: 10:89692940-89692940 GRCh38: 10:87933183-87933183 |
13 |
SDHD |
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs) |
INDEL |
Pathogenic
|
964700 |
rs1865655347 |
GRCh37: 11:111958652-111958655 GRCh38: 11:112087928-112087931 |
14 |
PTEN |
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg) |
SNV |
Pathogenic
|
183726 |
rs786201044 |
GRCh37: 10:89692922-89692922 GRCh38: 10:87933165-87933165 |
15 |
SDHB |
NM_003000.3(SDHB):c.591del (p.Ser198fs) |
DEL |
Pathogenic
|
412462 |
rs1060503757 |
GRCh37: 1:17350519-17350519 GRCh38: 1:17024024-17024024 |
16 |
PTEN |
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) |
MICROSAT |
Pathogenic
|
71118 |
rs146650273 |
GRCh37: 10:89720799-89720802 GRCh38: 10:87961042-87961045 |
17 |
PTEN |
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) |
SNV |
Pathogenic
|
7813 |
rs121909219 |
GRCh37: 10:89717672-89717672 GRCh38: 10:87957915-87957915 |
18 |
PTEN |
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) |
SNV |
Pathogenic
Not Provided
|
7833 |
rs121909231 |
GRCh37: 10:89720852-89720852 GRCh38: 10:87961095-87961095 |
19 |
PIK3CA |
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) |
SNV |
Pathogenic
|
376476 |
rs867262025 |
GRCh37: 3:178938934-178938934 GRCh38: 3:179221146-179221146 |
20 |
PIK3CA |
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) |
SNV |
Pathogenic
|
39703 |
rs587776932 |
GRCh37: 3:178947865-178947865 GRCh38: 3:179230077-179230077 |
21 |
PTEN |
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) |
SNV |
Pathogenic
|
7829 |
rs121909229 |
GRCh37: 10:89692905-89692905 GRCh38: 10:87933148-87933148 |
22 |
PTEN |
NM_000314.8(PTEN):c.492+1G>A |
SNV |
Likely Pathogenic
|
1212448 |
|
GRCh37: 10:89693009-89693009 GRCh38: 10:87933252-87933252 |
23 |
PTEN |
NM_000314.8(PTEN):c.830C>T (p.Thr277Ile) |
SNV |
Likely Pathogenic
|
184277 |
rs398123329 |
GRCh37: 10:89720679-89720679 GRCh38: 10:87960922-87960922 |
24 |
PTEN |
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter) |
SNV |
Likely Pathogenic
|
917617 |
rs1589665853 |
GRCh37: 10:89720737-89720737 GRCh38: 10:87960980-87960980 |
25 |
PTEN |
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly) |
SNV |
Likely Pathogenic
|
186094 |
rs786202688 |
GRCh37: 10:89692991-89692991 GRCh38: 10:87933234-87933234 |
26 |
PTEN |
NM_000314.8(PTEN):c.827A>T (p.Asn276Ile) |
SNV |
Likely Pathogenic
|
988006 |
rs1860618095 |
GRCh37: 10:89720676-89720676 GRCh38: 10:87960919-87960919 |
27 |
PTEN |
NM_000314.8(PTEN):c.37A>G (p.Lys13Glu) |
SNV |
Likely Pathogenic
|
988004 |
rs1554890348 |
GRCh37: 10:89624263-89624263 GRCh38: 10:87864506-87864506 |
28 |
PTEN |
NM_000314.8(PTEN):c.1023del (p.Phe341fs) |
DEL |
Likely Pathogenic
|
623215 |
rs1564568689 |
GRCh37: 10:89720869-89720869 GRCh38: 10:87961112-87961112 |
29 |
PTEN |
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs) |
DUP |
Likely Pathogenic
|
928675 |
rs121913291 |
GRCh37: 10:89720811-89720812 GRCh38: 10:87961054-87961055 |
30 |
PTEN |
NM_000314.8(PTEN):c.423del (p.Arg142fs) |
DEL |
Likely Pathogenic
|
928677 |
rs1859979785 |
GRCh37: 10:89692939-89692939 GRCh38: 10:87933182-87933182 |
31 |
PTEN |
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter) |
SNV |
Likely Pathogenic
|
379501 |
rs1057520622 |
GRCh37: 10:89692946-89692946 GRCh38: 10:87933189-87933189 |
32 |
PTEN |
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) |
SNV |
Likely Pathogenic
|
224542 |
rs869312775 |
GRCh37: 10:89692860-89692860 GRCh38: 10:87933103-87933103 |
33 |
PTEN |
NM_000314.8(PTEN):c.408T>G (p.Cys136Trp) |
SNV |
Likely Pathogenic
|
224543 |
rs869312776 |
GRCh37: 10:89692924-89692924 GRCh38: 10:87933167-87933167 |
34 |
PTEN |
NM_000314.8(PTEN):c.486C>G (p.Asp162Glu) |
SNV |
Likely Pathogenic
|
224544 |
rs869312777 |
GRCh37: 10:89693002-89693002 GRCh38: 10:87933245-87933245 |
35 |
PIK3CA |
NM_006218.4(PIK3CA):c.3145G>T (p.Gly1049Cys) |
SNV |
Likely Pathogenic
|
1511013 |
|
GRCh37: 3:178952090-178952090 GRCh38: 3:179234302-179234302 |
36 |
PIK3CA |
NM_006218.4(PIK3CA):c.311C>T (p.Pro104Leu) |
SNV |
Likely Pathogenic
|
217291 |
rs863225060 |
GRCh37: 3:178916924-178916924 GRCh38: 3:179199136-179199136 |
37 |
PIK3CA |
NM_006218.4(PIK3CA):c.476_478del (p.Pro159del) |
DEL |
Uncertain Significance
|
956473 |
rs1724364548 |
GRCh37: 3:178917600-178917602 GRCh38: 3:179199812-179199814 |
38 |
PIK3CA |
NM_006218.4(PIK3CA):c.1448T>C (p.Val483Ala) |
SNV |
Uncertain Significance
|
957162 |
rs1724680844 |
GRCh37: 3:178928262-178928262 GRCh38: 3:179210474-179210474 |
39 |
PIK3CA |
NM_006218.4(PIK3CA):c.1139A>G (p.Asn380Ser) |
SNV |
Uncertain Significance
|
958503 |
rs202013300 |
GRCh37: 3:178922370-178922370 GRCh38: 3:179204582-179204582 |
40 |
PIK3CA |
NM_006218.4(PIK3CA):c.524C>T (p.Pro175Leu) |
SNV |
Uncertain Significance
|
959302 |
rs1175225456 |
GRCh37: 3:178917649-178917649 GRCh38: 3:179199861-179199861 |
41 |
PIK3CA |
NM_006218.4(PIK3CA):c.2558A>G (p.Asn853Ser) |
SNV |
Uncertain Significance
|
962585 |
rs1725159134 |
GRCh37: 3:178947122-178947122 GRCh38: 3:179229334-179229334 |
42 |
PIK3CA |
NM_006218.4(PIK3CA):c.2392G>A (p.Glu798Lys) |
SNV |
Uncertain Significance
|
971035 |
rs1430412182 |
GRCh37: 3:178942585-178942585 GRCh38: 3:179224797-179224797 |
43 |
PIK3CA |
NM_006218.4(PIK3CA):c.611A>G (p.Lys204Arg) |
SNV |
Uncertain Significance
|
1000854 |
rs1724404532 |
GRCh37: 3:178919126-178919126 GRCh38: 3:179201338-179201338 |
44 |
PIK3CA |
NM_006218.4(PIK3CA):c.2776G>A (p.Asp926Asn) |
SNV |
Uncertain Significance
|
1001006 |
rs773300933 |
GRCh37: 3:178947901-178947901 GRCh38: 3:179230113-179230113 |
45 |
PIK3CA |
NM_006218.4(PIK3CA):c.955A>G (p.Asn319Asp) |
SNV |
Uncertain Significance
|
1002337 |
rs1724480940 |
GRCh37: 3:178921473-178921473 GRCh38: 3:179203685-179203685 |
46 |
PIK3CA |
NM_006218.4(PIK3CA):c.301G>C (p.Val101Leu) |
SNV |
Uncertain Significance
|
1003976 |
rs1724342655 |
GRCh37: 3:178916914-178916914 GRCh38: 3:179199126-179199126 |
47 |
PIK3CA |
NM_006218.4(PIK3CA):c.1055A>T (p.Asp352Val) |
SNV |
Uncertain Significance
|
1006152 |
rs1724484731 |
GRCh37: 3:178921573-178921573 GRCh38: 3:179203785-179203785 |
48 |
PIK3CA |
NM_006218.4(PIK3CA):c.2785-4A>G |
SNV |
Uncertain Significance
|
1008145 |
rs1725180228 |
GRCh37: 3:178948009-178948009 GRCh38: 3:179230221-179230221 |
49 |
PIK3CA |
NM_006218.4(PIK3CA):c.2969C>G (p.Ala990Gly) |
SNV |
Uncertain Significance
|
1011496 |
rs1725278653 |
GRCh37: 3:178951914-178951914 GRCh38: 3:179234126-179234126 |
50 |
PIK3CA |
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) |
SNV |
Uncertain Significance
|
996913 |
rs756890248 |
GRCh37: 3:178947094-178947094 GRCh38: 3:179229306-179229306 |