1 |
TP53 |
NM_001126112.2(TP53):c.1015G>T (p.Glu339Ter) |
SNV |
Pathogenic |
438708 |
rs17882252 |
17:7574012-7574012 |
17:7670694-7670694 |
2 |
TP53 |
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) |
SNV |
Pathogenic |
12347 |
rs121912651 |
17:7577539-7577539 |
17:7674221-7674221 |
3 |
TP53 |
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) |
SNV |
Pathogenic |
12349 |
rs28934575 |
17:7577548-7577548 |
17:7674230-7674230 |
4 |
TP53 |
NM_001126112.2(TP53):c.755T>C (p.Leu252Pro) |
SNV |
Pathogenic |
12350 |
rs121912653 |
17:7577526-7577526 |
17:7674208-7674208 |
5 |
TP53 |
NM_001126112.2(TP53):c.875A>T (p.Lys292Ile) |
SNV |
Pathogenic |
12378 |
rs121912663 |
17:7577063-7577063 |
17:7673745-7673745 |
6 |
TP53 |
NM_000546.6(TP53):c.1010G>A (p.Arg337His) |
SNV |
Pathogenic |
12379 |
rs121912664 |
17:7574017-7574017 |
17:7670699-7670699 |
7 |
TP53 |
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) |
SNV |
Pathogenic |
12356 |
rs11540652 |
17:7577538-7577538 |
17:7674220-7674220 |
8 |
TP53 |
NM_001126112.2(TP53):c.398T>C (p.Met133Thr) |
SNV |
Pathogenic |
12357 |
rs28934873 |
17:7578532-7578532 |
17:7675214-7675214 |
9 |
TP53 |
NM_001126112.2(TP53):c.628_629del (p.Asn210fs) |
deletion |
Pathogenic |
12361 |
rs587776768 |
17:7578220-7578221 |
17:7674902-7674903 |
10 |
TP53 |
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) |
SNV |
Pathogenic |
12365 |
rs28934575 |
17:7577548-7577548 |
17:7674230-7674230 |
11 |
TP53 |
NM_000546.6(TP53):c.818G>A (p.Arg273His) |
SNV |
Pathogenic |
12366 |
rs28934576 |
17:7577120-7577120 |
17:7673802-7673802 |
12 |
TP53 |
NM_001126112.2(TP53):c.532del (p.His178fs) |
deletion |
Pathogenic |
12377 |
rs786202525 |
17:7578398-7578398 |
17:7675080-7675080 |
13 |
TP53 |
TP53, 1-BP DEL, CODON 257 |
deletion |
Pathogenic |
12373 |
|
|
|
14 |
TP53 |
TP53, 11-BP DEL/5-BP INS |
indel |
Pathogenic |
12381 |
|
|
|
15 |
TP53 |
NM_000546.6(TP53):c.524G>A (p.Arg175His) |
SNV |
Pathogenic |
12374 |
rs28934578 |
17:7578406-7578406 |
17:7675088-7675088 |
16 |
TP53 |
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) |
SNV |
Pathogenic |
12383 |
rs121912666 |
17:7578190-7578190 |
17:7674872-7674872 |
17 |
TP53 |
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) |
SNV |
Pathogenic |
43590 |
rs397516436 |
17:7578212-7578212 |
17:7674894-7674894 |
18 |
TP53 |
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) |
SNV |
Pathogenic |
135359 |
rs587778720 |
17:7578211-7578211 |
17:7674893-7674893 |
19 |
TP53 |
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) |
SNV |
Pathogenic |
142766 |
rs587782705 |
17:7578475-7578475 |
17:7675157-7675157 |
20 |
TP53 |
NM_001126112.2(TP53):c.455dup (p.Pro153fs) |
duplication |
Pathogenic |
182958 |
rs730882019 |
17:7578474-7578475 |
17:7675156-7675157 |
21 |
TP53 |
NM_001126112.2(TP53):c.273G>A (p.Trp91Ter) |
SNV |
Pathogenic |
233650 |
rs876660548 |
17:7579414-7579414 |
17:7676096-7676096 |
22 |
TP53 |
NM_001126112.2(TP53):c.794T>C (p.Leu265Pro) |
SNV |
Pathogenic/Likely pathogenic |
245777 |
rs879253942 |
17:7577144-7577144 |
17:7673826-7673826 |
23 |
TP53 |
NM_001126112.2(TP53):c.799C>T (p.Arg267Trp) |
SNV |
Pathogenic/Likely pathogenic |
141764 |
rs55832599 |
17:7577139-7577139 |
17:7673821-7673821 |
24 |
TP53 |
NM_000546.6(TP53):c.473G>A (p.Arg158His) |
SNV |
Pathogenic/Likely pathogenic |
141963 |
rs587782144 |
17:7578457-7578457 |
17:7675139-7675139 |
25 |
TP53 |
NM_000546.6(TP53):c.542G>A (p.Arg181His) |
SNV |
Pathogenic/Likely pathogenic |
142320 |
rs397514495 |
17:7578388-7578388 |
17:7675070-7675070 |
26 |
TP53 |
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) |
SNV |
Pathogenic/Likely pathogenic |
43594 |
rs121913343 |
17:7577121-7577121 |
17:7673803-7673803 |
27 |
TP53 |
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) |
SNV |
Pathogenic/Likely pathogenic |
127815 |
rs587780070 |
17:7578395-7578395 |
17:7675077-7675077 |
28 |
TP53 |
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) |
SNV |
Pathogenic/Likely pathogenic |
12364 |
rs28934574 |
17:7577094-7577094 |
17:7673776-7673776 |
29 |
TP53 |
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) |
SNV |
Pathogenic/Likely pathogenic |
12355 |
rs121912656 |
17:7577547-7577547 |
17:7674229-7674229 |
30 |
TP53 |
NM_001126112.2(TP53):c.772G>A (p.Glu258Lys) |
SNV |
Pathogenic/Likely pathogenic |
12348 |
rs121912652 |
17:7577509-7577509 |
17:7674191-7674191 |
31 |
TP53 |
NM_001126112.2(TP53):c.96+1G>T |
SNV |
Pathogenic/Likely pathogenic |
482212 |
rs1131691003 |
17:7579699-7579699 |
17:7676381-7676381 |
32 |
TP53 |
NM_001126112.2(TP53):c.499C>T (p.Gln167Ter) |
SNV |
Pathogenic/Likely pathogenic |
528250 |
rs1555526097 |
17:7578431-7578431 |
17:7675113-7675113 |
33 |
TP53 |
NM_001126112.2(TP53):c.559+1G>A |
SNV |
Pathogenic/Likely pathogenic |
428908 |
rs1131691042 |
17:7578370-7578370 |
17:7675052-7675052 |
34 |
TP53 |
NM_001126112.2(TP53):c.38dup (p.Leu14fs) |
duplication |
Likely pathogenic |
487431 |
rs1555527002 |
17:7579874-7579875 |
17:7676556-7676557 |
35 |
TP53 |
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) |
SNV |
drug response |
12351 |
rs1042522 |
17:7579472-7579472 |
17:7676154-7676154 |
36 |
TP53 |
NM_001126112.2(TP53):c.919+1G>A |
SNV |
Likely pathogenic |
633606 |
rs1131691039 |
17:7577018-7577018 |
17:7673700-7673700 |
37 |
TP53 |
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) |
SNV |
Likely pathogenic |
12358 |
rs121912657 |
17:7577124-7577124 |
17:7673806-7673806 |
38 |
TP53 |
NM_001126112.2(TP53):c.412G>C (p.Ala138Pro) |
SNV |
Likely pathogenic |
12376 |
rs28934875 |
17:7578518-7578518 |
17:7675200-7675200 |
39 |
TP53 |
NM_001126112.2(TP53):c.1031T>C (p.Leu344Pro) |
SNV |
Likely pathogenic |
12375 |
rs121912662 |
17:7573996-7573996 |
17:7670678-7670678 |
40 |
TP53 |
NM_001126112.2(TP53):c.267del (p.Ser90fs) |
deletion |
Likely pathogenic |
156515 |
rs587783062 |
17:7579420-7579420 |
17:7676102-7676102 |
41 |
TP53 |
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) |
SNV |
Conflicting interpretations of pathogenicity |
161397 |
rs146340390 |
17:7578184-7578184 |
17:7674866-7674866 |
42 |
TP53 |
NM_001126112.2(TP53):c.1015G>A (p.Glu339Lys) |
SNV |
Conflicting interpretations of pathogenicity |
142846 |
rs17882252 |
17:7574012-7574012 |
17:7670694-7670694 |
43 |
TP53 |
NM_001126112.2(TP53):c.787A>G (p.Asn263Asp) |
SNV |
Conflicting interpretations of pathogenicity |
142916 |
rs72661119 |
17:7577151-7577151 |
17:7673833-7673833 |
44 |
TP53 |
NM_001126112.2(TP53):c.646G>A (p.Val216Met) |
SNV |
Conflicting interpretations of pathogenicity |
182965 |
rs730882025 |
17:7578203-7578203 |
17:7674885-7674885 |
45 |
TP53 |
NM_001126112.2(TP53):c.993+13G>C |
SNV |
Conflicting interpretations of pathogenicity |
182949 |
rs369599972 |
17:7576840-7576840 |
17:7673522-7673522 |
46 |
TP53 |
NM_001126112.2(TP53):c.782+12C>T |
SNV |
Conflicting interpretations of pathogenicity |
182948 |
rs17881780 |
17:7577487-7577487 |
17:7674169-7674169 |
47 |
TP53 |
NM_001126112.2(TP53):c.848G>A (p.Arg283His) |
SNV |
Conflicting interpretations of pathogenicity |
142324 |
rs371409680 |
17:7577090-7577090 |
17:7673772-7673772 |
48 |
TP53 |
NM_001126112.2(TP53):c.427G>A (p.Val143Met) |
SNV |
Conflicting interpretations of pathogenicity |
142657 |
rs587782620 |
17:7578503-7578503 |
17:7675185-7675185 |
49 |
TP53 |
NM_001126112.2(TP53):c.107C>A (p.Pro36Gln) |
SNV |
Conflicting interpretations of pathogenicity |
141597 |
rs587781866 |
17:7579580-7579580 |
17:7676262-7676262 |
50 |
TP53 |
NM_000546.6(TP53):c.642T>G (p.His214Gln) |
SNV |
Conflicting interpretations of pathogenicity |
140943 |
rs587781386 |
17:7578207-7578207 |
17:7674889-7674889 |