1 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508_Gly509=) |
SNV |
Pathogenic
|
12504 |
rs121918715 |
GRCh37: 3:30730003-30730003 GRCh38: 3:30688511-30688511 |
2 |
TGFBR2 |
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) |
SNV |
Pathogenic
|
12505 |
rs28934568 |
GRCh37: 3:30713598-30713598 GRCh38: 3:30672106-30672106 |
3 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) |
SNV |
Pathogenic
|
12506 |
rs104893807 |
GRCh37: 3:30715688-30715688 GRCh38: 3:30674196-30674196 |
4 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) |
SNV |
Pathogenic
|
12508 |
rs104893812 |
GRCh37: 3:30713681-30713681 GRCh38: 3:30672189-30672189 |
5 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) |
SNV |
Pathogenic
|
12509 |
rs104893813 |
GRCh37: 3:30713738-30713738 GRCh38: 3:30672246-30672246 |
6 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) |
SNV |
Pathogenic
|
12510 |
rs104893814 |
GRCh37: 3:30713744-30713744 GRCh38: 3:30672252-30672252 |
7 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) |
SNV |
Pathogenic
|
12511 |
rs104893815 |
GRCh37: 3:30732970-30732970 GRCh38: 3:30691478-30691478 |
8 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) |
SNV |
Pathogenic
|
12514 |
rs104893811 |
GRCh37: 3:30715720-30715720 GRCh38: 3:30674228-30674228 |
9 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) |
SNV |
Pathogenic
|
12517 |
rs104893817 |
GRCh37: 3:30715615-30715615 GRCh38: 3:30674123-30674123 |
10 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) |
SNV |
Pathogenic
|
12518 |
rs104893818 |
GRCh37: 3:30715622-30715622 GRCh38: 3:30674130-30674130 |
11 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) |
SNV |
Pathogenic
|
180541 |
rs727504421 |
GRCh37: 3:30732957-30732957 GRCh38: 3:30691465-30691465 |
12 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) |
SNV |
Pathogenic
|
177704 |
rs727504292 |
GRCh37: 3:30713742-30713742 GRCh38: 3:30672250-30672250 |
13 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) |
SNV |
Pathogenic
|
1299545 |
|
GRCh37: 3:30732969-30732969 GRCh38: 3:30691477-30691477 |
14 |
TGFBR2 |
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) |
SNV |
Pathogenic
|
263412 |
rs886038794 |
GRCh37: 3:30713506-30713506 GRCh38: 3:30672014-30672014 |
15 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) |
SNV |
Pathogenic
|
12515 |
rs104893816 |
GRCh37: 3:30715721-30715721 GRCh38: 3:30674229-30674229 |
16 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1397-2A>G |
SNV |
Pathogenic
|
12516 |
rs587776770 |
GRCh37: 3:30729874-30729874 GRCh38: 3:30688382-30688382 |
17 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) |
SNV |
Pathogenic
Pathogenic
|
12519 |
rs104893819 |
GRCh37: 3:30729962-30729962 GRCh38: 3:30688470-30688470 |
18 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) |
SNV |
Pathogenic
|
12512 |
rs104893810 |
GRCh37: 3:30732969-30732969 GRCh38: 3:30691477-30691477 |
19 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) |
SNV |
Pathogenic
|
213934 |
rs863223852 |
GRCh37: 3:30729968-30729968 GRCh38: 3:30688476-30688476 |
20 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) |
SNV |
Pathogenic
|
393299 |
rs1553630457 |
GRCh37: 3:30715723-30715723 GRCh38: 3:30674231-30674231 |
21 |
TGFBR2 |
NM_003242.6(TGFBR2):c.95-2A>G |
SNV |
Likely Pathogenic
|
12513 |
rs779131465 |
GRCh37: 3:30686237-30686237 GRCh38: 3:30644745-30644745 |
22 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) |
SNV |
Likely Pathogenic
|
217016 |
rs863224935 |
GRCh37: 3:30729887-30729887 GRCh38: 3:30688395-30688395 |
23 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) |
SNV |
Likely Pathogenic
|
919773 |
rs727504292 |
GRCh37: 3:30713742-30713742 GRCh38: 3:30672250-30672250 |
24 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1331A>C (p.Gln444Pro) |
SNV |
Likely Pathogenic
|
1699490 |
|
GRCh37: 3:30715673-30715673 GRCh38: 3:30674181-30674181 |
25 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr) |
SNV |
Likely Pathogenic
|
155839 |
rs587782979 |
GRCh37: 3:30715724-30715724 GRCh38: 3:30674232-30674232 |
26 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1177T>C (p.Cys393Arg) |
SNV |
Likely Pathogenic
|
1679895 |
|
GRCh37: 3:30713852-30713852 GRCh38: 3:30672360-30672360 |
27 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) |
SNV |
Likely Pathogenic
|
12507 |
rs104893809 |
GRCh37: 3:30732996-30732996 GRCh38: 3:30691504-30691504 |
28 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1378C>A (p.Arg460Ser) |
SNV |
Likely Pathogenic
|
1332770 |
|
GRCh37: 3:30715720-30715720 GRCh38: 3:30674228-30674228 |
29 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1379G>C (p.Arg460Pro) |
SNV |
Likely Pathogenic
|
1332771 |
|
GRCh37: 3:30715721-30715721 GRCh38: 3:30674229-30674229 |
30 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1102T>C (p.Cys368Arg) |
SNV |
Likely Pathogenic
|
1332843 |
|
GRCh37: 3:30713777-30713777 GRCh38: 3:30672285-30672285 |
31 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) |
SNV |
Likely Pathogenic
|
1028591 |
rs1575158079 |
GRCh37: 3:30713809-30713809 GRCh38: 3:30672317-30672317 |
32 |
TGFBR2 |
NM_003242.6(TGFBR2):c.860G>C (p.Trp287Ser) |
SNV |
Likely Pathogenic
|
1297003 |
|
GRCh37: 3:30713535-30713535 GRCh38: 3:30672043-30672043 |
33 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) |
SNV |
Likely Pathogenic
|
265447 |
rs886039551 |
GRCh37: 3:30715678-30715678 GRCh38: 3:30674186-30674186 |
34 |
TGFBR2 |
NM_003242.6(TGFBR2):c.95-3679C>A |
SNV |
Uncertain Significance
|
1696507 |
|
GRCh37: 3:30682560-30682560 GRCh38: 3:30641068-30641068 |
35 |
TGFBR2 |
NM_003242.6(TGFBR2):c.95-3C>A |
SNV |
Uncertain Significance
|
408434 |
rs375330013 |
GRCh37: 3:30686236-30686236 GRCh38: 3:30644744-30644744 |
36 |
TMPO |
NM_001032283.3(TMPO):c.565+1390A>G |
SNV |
Uncertain Significance
|
310766 |
rs780719278 |
GRCh37: 12:98927006-98927006 GRCh38: 12:98533228-98533228 |
37 |
TMPO |
NM_001032283.3(TMPO):c.565+2368G>A |
SNV |
Uncertain Significance
|
44669 |
rs138295270 |
GRCh37: 12:98927984-98927984 GRCh38: 12:98534206-98534206 |
38 |
TMPO |
NM_001032283.3(TMPO):c.565+2361G>T |
SNV |
Uncertain Significance
|
380110 |
rs746160070 |
GRCh37: 12:98927977-98927977 GRCh38: 12:98534199-98534199 |
39 |
TMPO |
NM_001032283.3(TMPO):c.289A>G (p.Lys97Glu) |
SNV |
Uncertain Significance
|
518670 |
rs778356103 |
GRCh37: 12:98921673-98921673 GRCh38: 12:98527895-98527895 |
40 |
TMPO |
NM_001032283.3(TMPO):c.565+2182T>C |
SNV |
Uncertain Significance
|
1311139 |
|
GRCh37: 12:98927798-98927798 GRCh38: 12:98534020-98534020 |
41 |
TMPO |
NM_001032283.3(TMPO):c.565+1361T>G |
SNV |
Uncertain Significance
|
1423035 |
|
GRCh37: 12:98926977-98926977 GRCh38: 12:98533199-98533199 |
42 |
TMPO |
NM_001032283.3(TMPO):c.565+2488G>A |
SNV |
Uncertain Significance
|
1393903 |
|
GRCh37: 12:98928104-98928104 GRCh38: 12:98534326-98534326 |
43 |
TMPO |
NM_001032283.3(TMPO):c.565+1949C>G |
SNV |
Uncertain Significance
|
1407719 |
|
GRCh37: 12:98927565-98927565 GRCh38: 12:98533787-98533787 |
44 |
TMPO |
NM_001032283.3(TMPO):c.565+2299A>G |
SNV |
Uncertain Significance
|
1442701 |
|
GRCh37: 12:98927915-98927915 GRCh38: 12:98534137-98534137 |
45 |
TMPO |
NM_001032283.3(TMPO):c.565+1567C>T |
SNV |
Uncertain Significance
|
1498863 |
|
GRCh37: 12:98927183-98927183 GRCh38: 12:98533405-98533405 |
46 |
TMPO-AS1, TMPO |
NM_001032283.3(TMPO):c.234C>G (p.Gly78=) |
SNV |
Uncertain Significance
|
1511149 |
|
GRCh37: 12:98909879-98909879 GRCh38: 12:98516101-98516101 |
47 |
TGFBR2 |
NM_003242.6(TGFBR2):c.*1201C>T |
SNV |
Uncertain Significance
|
344692 |
rs886058318 |
GRCh37: 3:30734292-30734292 GRCh38: 3:30692800-30692800 |
48 |
TGFBR2 |
NM_003242.6(TGFBR2):c.*86A>G |
SNV |
Uncertain Significance
|
344665 |
rs540602629 |
GRCh37: 3:30733177-30733177 GRCh38: 3:30691685-30691685 |
49 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1087A>G (p.Ser363Gly) |
SNV |
Uncertain Significance
|
1333752 |
|
GRCh37: 3:30713762-30713762 GRCh38: 3:30672270-30672270 |
50 |
TGFBR2 |
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) |
SNV |
Uncertain Significance
|
923453 |
rs759362407 |
GRCh37: 3:30713180-30713180 GRCh38: 3:30671688-30671688 |