1 |
TP53 |
NM_000546.6(TP53):c.154C>T (p.Gln52Ter) |
SNV |
Pathogenic
|
1455400 |
|
GRCh37: 17:7579533-7579533 GRCh38: 17:7676215-7676215 |
2 |
TP53 |
NM_000546.6(TP53):c.331_365dup (p.Thr123fs) |
DUP |
Pathogenic
|
817074 |
rs1597373467 |
GRCh37: 17:7579321-7579322 GRCh38: 17:7676003-7676004 |
3 |
TP53 |
NM_000546.6(TP53):c.271dup (p.Trp91fs) |
DUP |
Pathogenic
|
801291 |
rs1597374152 |
GRCh37: 17:7579415-7579416 GRCh38: 17:7676097-7676098 |
4 |
TP53 |
NM_000546.6(TP53):c.383del (p.Pro128fs) |
DEL |
Pathogenic
|
659670 |
rs1597371666 |
GRCh37: 17:7578547-7578547 GRCh38: 17:7675229-7675229 |
5 |
TP53 |
NM_000546.6(TP53):c.254del (p.Pro85fs) |
DEL |
Pathogenic
|
418516 |
rs1064793279 |
GRCh37: 17:7579433-7579433 GRCh38: 17:7676115-7676115 |
6 |
TP53 |
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) |
SNV |
Pathogenic
|
376663 |
rs28934573 |
GRCh37: 17:7577559-7577559 GRCh38: 17:7674241-7674241 |
7 |
TP53 |
NM_000546.6(TP53):c.818G>A (p.Arg273His) |
SNV |
Pathogenic
Pathogenic/Likely Pathogenic
|
12366 |
rs28934576 |
GRCh37: 17:7577120-7577120 GRCh38: 17:7673802-7673802 |
8 |
TP53 |
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) |
SNV |
Pathogenic
|
141141 |
rs587781525 |
GRCh37: 17:7577096-7577096 GRCh38: 17:7673778-7673778 |
9 |
TP53 |
NM_000546.6(TP53):c.994-1G>A |
SNV |
Pathogenic
|
142161 |
rs587782272 |
GRCh37: 17:7574034-7574034 GRCh38: 17:7670716-7670716 |
10 |
TP53 |
NM_000546.6(TP53):c.920-1G>A |
SNV |
Pathogenic
|
141377 |
rs587781702 |
GRCh37: 17:7576927-7576927 GRCh38: 17:7673609-7673609 |
11 |
TP53 |
NM_000546.6(TP53):c.375G>A (p.Thr125=) |
SNV |
Pathogenic
|
177825 |
rs55863639 |
GRCh37: 17:7579312-7579312 GRCh38: 17:7675994-7675994 |
12 |
TP53 |
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) |
SNV |
Pathogenic
|
182930 |
rs730882001 |
GRCh37: 17:7578437-7578437 GRCh38: 17:7675119-7675119 |
13 |
TP53 |
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) |
SNV |
Pathogenic
|
438708 |
rs17882252 |
GRCh37: 17:7574012-7574012 GRCh38: 17:7670694-7670694 |
14 |
TP53 |
NM_000546.6(TP53):c.651_666del (p.Val218fs) |
DEL |
Pathogenic
|
185612 |
rs786202315 |
GRCh37: 17:7578183-7578198 GRCh38: 17:7674865-7674880 |
15 |
TP53 |
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) |
SNV |
Pathogenic
|
186451 |
rs786202962 |
GRCh37: 17:7578403-7578403 GRCh38: 17:7675085-7675085 |
16 |
TP53 |
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) |
SNV |
Pathogenic
|
43590 |
rs397516436 |
GRCh37: 17:7578212-7578212 GRCh38: 17:7674894-7674894 |
17 |
TP53 |
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) |
SNV |
Pathogenic
|
135359 |
rs587778720 |
GRCh37: 17:7578211-7578211 GRCh38: 17:7674893-7674893 |
18 |
TP53 |
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) |
SNV |
Pathogenic
|
12378 |
rs121912663 |
GRCh37: 17:7577063-7577063 GRCh38: 17:7673745-7673745 |
19 |
TP53 |
NM_000546.6(TP53):c.532del (p.His178fs) |
DEL |
Pathogenic
|
12377 |
rs786202525 |
GRCh37: 17:7578398-7578398 GRCh38: 17:7675080-7675080 |
20 |
TP53 |
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) |
SNV |
Pathogenic
|
12376 |
rs28934875 |
GRCh37: 17:7578518-7578518 GRCh38: 17:7675200-7675200 |
21 |
TP53 |
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) |
SNV |
Pathogenic
|
12375 |
rs121912662 |
GRCh37: 17:7573996-7573996 GRCh38: 17:7670678-7670678 |
22 |
TP53 |
NM_000546.6(TP53):c.524G>A (p.Arg175His) |
SNV |
Pathogenic
Pathogenic
|
12374 |
rs28934578 |
GRCh37: 17:7578406-7578406 GRCh38: 17:7675088-7675088 |
23 |
TP53 |
NM_000546.6(TP53):c.455dup (p.Pro153fs) |
DUP |
Pathogenic
|
182958 |
rs730882019 |
GRCh37: 17:7578474-7578475 GRCh38: 17:7675156-7675157 |
24 |
TP53 |
NM_000546.6(TP53):c.814G>T (p.Val272Leu) |
SNV |
Pathogenic
|
12358 |
rs121912657 |
GRCh37: 17:7577124-7577124 GRCh38: 17:7673806-7673806 |
25 |
TP53 |
NM_000546.6(TP53):c.398T>C (p.Met133Thr) |
SNV |
Pathogenic
|
12357 |
rs28934873 |
GRCh37: 17:7578532-7578532 GRCh38: 17:7675214-7675214 |
26 |
TP53 |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) |
SNV |
Pathogenic
|
12365 |
rs28934575 |
GRCh37: 17:7577548-7577548 GRCh38: 17:7674230-7674230 |
27 |
TP53 |
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) |
SNV |
Pathogenic
|
12349 |
rs28934575 |
GRCh37: 17:7577548-7577548 GRCh38: 17:7674230-7674230 |
28 |
TP53 |
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) |
SNV |
Pathogenic
|
12347 |
rs121912651 |
GRCh37: 17:7577539-7577539 GRCh38: 17:7674221-7674221 |
29 |
TP53 |
NM_000546.6(TP53):c.560-2A>C |
SNV |
Pathogenic
|
1189743 |
|
GRCh37: 17:7578291-7578291 GRCh38: 17:7674973-7674973 |
30 |
TP53 |
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) |
SNV |
Pathogenic
|
142766 |
rs587782705 |
GRCh37: 17:7578475-7578475 GRCh38: 17:7675157-7675157 |
31 |
TP53 |
NM_000546.6(TP53):c.257_279del (p.Ala86fs) |
DEL |
Pathogenic
|
280704 |
rs886041861 |
GRCh37: 17:7579408-7579430 GRCh38: 17:7676090-7676112 |
32 |
TP53 |
NM_000546.6(TP53):c.662del (p.Glu221fs) |
DEL |
Pathogenic
|
237951 |
rs878854071 |
GRCh37: 17:7578187-7578187 GRCh38: 17:7674869-7674869 |
33 |
TP53 |
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) |
SNV |
Pathogenic
|
224551 |
rs869312782 |
GRCh37: 17:7579485-7579485 GRCh38: 17:7676167-7676167 |
34 |
TP53 |
NM_000546.6(TP53):c.672+1G>A |
SNV |
Pathogenic
|
216078 |
rs863224499 |
GRCh37: 17:7578176-7578176 GRCh38: 17:7674858-7674858 |
35 |
TP53 |
NM_000546.6(TP53):c.328del (p.Arg110fs) |
DEL |
Pathogenic
|
127807 |
rs587780066 |
GRCh37: 17:7579359-7579359 GRCh38: 17:7676041-7676041 |
36 |
TP53 |
NM_000546.6(TP53):c.645del (p.Ser215fs) |
DEL |
Pathogenic
|
1454254 |
|
GRCh37: 17:7578204-7578204 GRCh38: 17:7674886-7674886 |
37 |
TP53 |
NM_000546.6(TP53):c.983dup (p.Thr329fs) |
DUP |
Pathogenic
|
279962 |
rs886041285 |
GRCh37: 17:7576862-7576863 GRCh38: 17:7673544-7673545 |
38 |
TP53 |
NM_000546.6(TP53):c.825T>A (p.Cys275Ter) |
SNV |
Pathogenic
|
1012210 |
rs1555525279 |
GRCh37: 17:7577113-7577113 GRCh38: 17:7673795-7673795 |
39 |
TP53 |
NM_000546.6(TP53):c.72dup (p.Leu25fs) |
DUP |
Pathogenic
|
1341341 |
|
GRCh37: 17:7579840-7579841 GRCh38: 17:7676522-7676523 |
40 |
TP53 |
NM_000546.6(TP53):c.919+1G>A |
SNV |
Pathogenic
|
633606 |
rs1131691039 |
GRCh37: 17:7577018-7577018 GRCh38: 17:7673700-7673700 |
41 |
TP53 |
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) |
SNV |
Pathogenic
|
12383 |
rs121912666 |
GRCh37: 17:7578190-7578190 GRCh38: 17:7674872-7674872 |
42 |
TP53 |
TP53, 11-BP DEL/5-BP INS |
INDEL |
Pathogenic
|
12381 |
|
GRCh37: GRCh38: |
43 |
TP53 |
TP53, 1-BP DEL, CODON 257 |
DEL |
Pathogenic
|
12373 |
|
GRCh37: GRCh38: |
44 |
TP53 |
NM_000546.6(TP53):c.628_629del (p.Asn210fs) |
DEL |
Pathogenic
|
12361 |
rs587776768 |
GRCh37: 17:7578220-7578221 GRCh38: 17:7674902-7674903 |
45 |
TP53 |
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) |
SNV |
Pathogenic
|
12350 |
rs121912653 |
GRCh37: 17:7577526-7577526 GRCh38: 17:7674208-7674208 |
46 |
TP53 |
NM_000546.6(TP53):c.736A>G (p.Met246Val) |
SNV |
Pathogenic
|
100815 |
rs483352695 |
GRCh37: 17:7577545-7577545 GRCh38: 17:7674227-7674227 |
47 |
TP53 |
NM_000546.6(TP53):c.365_366del (p.Val122fs) |
MICROSAT |
Pathogenic
|
127809 |
rs587780067 |
GRCh37: 17:7579321-7579322 GRCh38: 17:7676003-7676004 |
48 |
TP53 |
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) |
SNV |
Pathogenic
|
140801 |
rs587781288 |
GRCh37: 17:7578508-7578508 GRCh38: 17:7675190-7675190 |
49 |
TP53 |
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) |
SNV |
Pathogenic
|
140821 |
rs28934574 |
GRCh37: 17:7577094-7577094 GRCh38: 17:7673776-7673776 |
50 |
TP53 |
NM_000546.6(TP53):c.294_297del (p.Ser99fs) |
DEL |
Pathogenic
|
182954 |
rs730882015 |
GRCh37: 17:7579390-7579393 GRCh38: 17:7676072-7676075 |