1 |
PTPN11 |
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met) |
SNV |
Pathogenic
|
981584 |
|
GRCh37: 12:112893774-112893774 GRCh38: 12:112455970-112455970 |
2 |
PTPN11 |
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) |
SNV |
Pathogenic
|
55798 |
rs397509344 |
GRCh37: 12:112926249-112926249 GRCh38: 12:112488445-112488445 |
3 |
PTPN11 |
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) |
SNV |
Pathogenic
|
40489 |
rs397507506 |
GRCh37: 12:112888158-112888158 GRCh38: 12:112450354-112450354 |
4 |
PTPN11 |
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) |
SNV |
Pathogenic
Pathogenic
|
13344 |
rs121918470 |
GRCh37: 12:112926909-112926909 GRCh38: 12:112489105-112489105 |
5 |
PTPN11 |
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) |
SNV |
Pathogenic
|
13342 |
rs121918468 |
GRCh37: 12:112926248-112926248 GRCh38: 12:112488444-112488444 |
6 |
PTPN11 |
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) |
SNV |
Pathogenic
|
13343 |
rs121918469 |
GRCh37: 12:112926258-112926258 GRCh38: 12:112488454-112488454 |
7 |
PTPN11 |
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) |
SNV |
Pathogenic
Pathogenic
|
13331 |
rs121918457 |
GRCh37: 12:112926270-112926270 GRCh38: 12:112488466-112488466 |
8 |
PTPN11 |
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) |
SNV |
Pathogenic
|
40553 |
rs397507541 |
GRCh37: 12:112926872-112926872 GRCh38: 12:112489068-112489068 |
9 |
PTPN11 |
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) |
SNV |
Pathogenic
|
40546 |
rs121918468 |
GRCh37: 12:112926248-112926248 GRCh38: 12:112488444-112488444 |
10 |
PTPN11 |
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) |
SNV |
Pathogenic
|
40554 |
rs397507542 |
GRCh37: 12:112926873-112926873 GRCh38: 12:112489069-112489069 |
11 |
PTPN11 |
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) |
SNV |
Pathogenic
|
40502 |
rs397507514 |
GRCh37: 12:112888212-112888212 GRCh38: 12:112450408-112450408 |
12 |
PTPN11 |
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) |
SNV |
Pathogenic
Pathogenic
|
13328 |
rs121918456 |
GRCh37: 12:112910827-112910827 GRCh38: 12:112473023-112473023 |
13 |
PTPN11 |
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) |
SNV |
Pathogenic
|
13340 |
rs121918466 |
GRCh37: 12:112888220-112888220 GRCh38: 12:112450416-112450416 |
14 |
PTPN11 |
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) |
SNV |
Pathogenic
Pathogenic
|
13333 |
rs121918459 |
GRCh37: 12:112888172-112888172 GRCh38: 12:112450368-112450368 |
15 |
PTPN11 |
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) |
SNV |
Pathogenic
Pathogenic
Pathogenic
|
13327 |
rs121918455 |
GRCh37: 12:112915524-112915524 GRCh38: 12:112477720-112477720 |
16 |
PTPN11 |
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) |
SNV |
Pathogenic
|
40495 |
rs397507510 |
GRCh37: 12:112888165-112888165 GRCh38: 12:112450361-112450361 |
17 |
PTPN11 |
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) |
SNV |
Pathogenic
Pathogenic
Pathogenic
Pathogenic
|
13326 |
rs28933386 |
GRCh37: 12:112915523-112915523 GRCh38: 12:112477719-112477719 |
18 |
PTPN11 |
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) |
SNV |
Pathogenic
Pathogenic
|
13324 |
rs121918453 |
GRCh37: 12:112888198-112888198 GRCh38: 12:112450394-112450394 |
19 |
PTPN11 |
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) |
SNV |
Pathogenic
|
13325 |
rs121918454 |
GRCh37: 12:112888199-112888199 GRCh38: 12:112450395-112450395 |
20 |
PTPN11 |
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) |
SNV |
Pathogenic
|
40513 |
rs397507520 |
GRCh37: 12:112891083-112891083 GRCh38: 12:112453279-112453279 |
21 |
PTPN11 |
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) |
SNV |
Pathogenic
|
13334 |
rs121918462 |
GRCh37: 12:112888202-112888202 GRCh38: 12:112450398-112450398 |
22 |
PTPN11 |
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) |
SNV |
Pathogenic
|
40558 |
rs397507545 |
GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083 |
23 |
PTPN11 |
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) |
SNV |
Pathogenic
|
40561 |
rs397507546 |
GRCh37: 12:112926888-112926888 GRCh38: 12:112489084-112489084 |
24 |
PTPN11 |
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) |
SNV |
Pathogenic
|
13329 |
rs121918460 |
GRCh37: 12:112888168-112888168 GRCh38: 12:112450364-112450364 |
25 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) |
SNV |
Pathogenic
Pathogenic
|
40528 |
rs397507531 |
GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040 |
26 |
PTPN11 |
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) |
SNV |
Pathogenic
|
40559 |
rs397507545 |
GRCh37: 12:112926887-112926887 GRCh38: 12:112489083-112489083 |
27 |
PTPN11 |
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) |
SNV |
Pathogenic
Pathogenic
|
40562 |
rs397507547 |
GRCh37: 12:112926890-112926890 GRCh38: 12:112489086-112489086 |
28 |
PTPN11 |
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) |
SNV |
Pathogenic
|
40487 |
rs397507505 |
GRCh37: 12:112888156-112888156 GRCh38: 12:112450352-112450352 |
29 |
PTPN11 |
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) |
SNV |
Pathogenic
|
13345 |
rs121918470 |
GRCh37: 12:112926909-112926909 GRCh38: 12:112489105-112489105 |
30 |
PTPN11 |
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) |
SNV |
Pathogenic
Pathogenic
|
40522 |
rs376607329 |
GRCh37: 12:112910785-112910785 GRCh38: 12:112472981-112472981 |
31 |
PTPN11 |
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) |
SNV |
Pathogenic
|
13330 |
rs121918461 |
GRCh37: 12:112888166-112888166 GRCh38: 12:112450362-112450362 |
32 |
PTPN11 |
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) |
SNV |
Pathogenic
|
44614 |
rs397507527 |
GRCh37: 12:112910793-112910793 GRCh38: 12:112472989-112472989 |
33 |
PTPN11 |
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) |
SNV |
Pathogenic
|
40552 |
rs397507540 |
GRCh37: 12:112926852-112926852 GRCh38: 12:112489048-112489048 |
34 |
PTPN11 |
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) |
SNV |
Pathogenic
|
40525 |
rs397507529 |
GRCh37: 12:112910835-112910835 GRCh38: 12:112473031-112473031 |
35 |
PTPN11 |
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) |
SNV |
Likely Pathogenic
|
280367 |
rs886041585 |
GRCh37: 12:112884180-112884180 GRCh38: 12:112446376-112446376 |
36 |
PTPN11 |
NM_002834.5(PTPN11):c.92C>G (p.Ala31Gly) |
SNV |
Likely Pathogenic
|
976032 |
rs2037994433 |
GRCh37: 12:112884157-112884157 GRCh38: 12:112446353-112446353 |
37 |
PTPN11 |
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) |
SNV |
Likely Pathogenic
|
40527 |
rs397507531 |
GRCh37: 12:112910844-112910844 GRCh38: 12:112473040-112473040 |
38 |
PTPN11 |
NM_002834.5(PTPN11):c.-161T>A |
SNV |
Uncertain Significance
|
880816 |
rs893158717 |
GRCh37: 12:112856755-112856755 GRCh38: 12:112418951-112418951 |
39 |
PTPN11 |
NM_002834.5(PTPN11):c.-151C>A |
SNV |
Uncertain Significance
|
880817 |
rs889190246 |
GRCh37: 12:112856765-112856765 GRCh38: 12:112418961-112418961 |
40 |
PTPN11 |
NM_002834.5(PTPN11):c.*64C>G |
SNV |
Uncertain Significance
|
880940 |
rs763895470 |
GRCh37: 12:112943660-112943660 GRCh38: 12:112505856-112505856 |
41 |
PTPN11 |
NM_002834.5(PTPN11):c.*720C>T |
SNV |
Uncertain Significance
|
880986 |
rs770605810 |
GRCh37: 12:112944316-112944316 GRCh38: 12:112506512-112506512 |
42 |
PTPN11 |
NM_002834.5(PTPN11):c.*1830G>A |
SNV |
Uncertain Significance
|
881085 |
rs1399608679 |
GRCh37: 12:112945426-112945426 GRCh38: 12:112507622-112507622 |
43 |
PTPN11 |
NM_002834.5(PTPN11):c.*1332G>A |
SNV |
Uncertain Significance
|
307243 |
rs886048973 |
GRCh37: 12:112944928-112944928 GRCh38: 12:112507124-112507124 |
44 |
PTPN11 |
NM_002834.5(PTPN11):c.*50C>T |
SNV |
Uncertain Significance
|
138845 |
rs730880328 |
GRCh37: 12:112943646-112943646 GRCh38: 12:112505842-112505842 |
45 |
PTPN11 |
NM_002834.5(PTPN11):c.*1946G>A |
SNV |
Uncertain Significance
|
307251 |
rs886048976 |
GRCh37: 12:112945542-112945542 GRCh38: 12:112507738-112507738 |
46 |
PTPN11 |
NM_002834.5(PTPN11):c.*2493C>T |
SNV |
Uncertain Significance
|
307252 |
rs886048977 |
GRCh37: 12:112946089-112946089 GRCh38: 12:112508285-112508285 |
47 |
PTPN11 |
NM_002834.5(PTPN11):c.473G>C (p.Gly158Ala) |
SNV |
Uncertain Significance
|
488168 |
rs1555267825 |
GRCh37: 12:112891139-112891139 GRCh38: 12:112453335-112453335 |
48 |
PTPN11 |
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) |
SNV |
Uncertain Significance
|
40540 |
rs146571700 |
GRCh37: 12:112915775-112915775 GRCh38: 12:112477971-112477971 |
49 |
PTPN11 |
NM_002834.5(PTPN11):c.*2928A>T |
SNV |
Uncertain Significance
|
307257 |
rs565075386 |
GRCh37: 12:112946524-112946524 GRCh38: 12:112508720-112508720 |
50 |
PTPN11 |
NM_002834.5(PTPN11):c.14+8G>T |
SNV |
Uncertain Significance
|
307224 |
rs886048965 |
GRCh37: 12:112856937-112856937 GRCh38: 12:112419133-112419133 |