1 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) |
SNV |
Pathogenic
|
12521 |
rs121918711 |
GRCh37: 9:101908835-101908835 GRCh38: 9:99146553-99146553 |
2 |
TGFBR1 |
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) |
SNV |
Pathogenic
|
12522 |
rs121918712 |
GRCh37: 9:101900165-101900165 GRCh38: 9:99137883-99137883 |
3 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) |
SNV |
Pathogenic
|
12523 |
rs113605875 |
GRCh37: 9:101911535-101911535 GRCh38: 9:99149253-99149253 |
4 |
TGFBR1 |
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) |
SNV |
Pathogenic
|
12527 |
rs121918713 |
GRCh37: 9:101894968-101894968 GRCh38: 9:99132686-99132686 |
5 |
TGFBR1 |
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) |
SNV |
Pathogenic
|
12520 |
rs121918710 |
GRCh37: 9:101904965-101904965 GRCh38: 9:99142683-99142683 |
6 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) |
SNV |
Pathogenic
|
694685 |
rs1575165272 |
GRCh37: 3:30729991-30729991 GRCh38: 3:30688499-30688499 |
7 |
TGFBR1 |
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) |
SNV |
Pathogenic
Likely Pathogenic
|
12524 |
rs111854391 |
GRCh37: 9:101900288-101900288 GRCh38: 9:99138006-99138006 |
8 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) |
SNV |
Pathogenic
|
12525 |
rs113605875 |
GRCh37: 9:101911535-101911535 GRCh38: 9:99149253-99149253 |
9 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) |
SNV |
Pathogenic
Likely Pathogenic
|
12526 |
rs111426349 |
GRCh37: 9:101911534-101911534 GRCh38: 9:99149252-99149252 |
10 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) |
SNV |
Likely Pathogenic
|
861293 |
rs1827899415 |
GRCh37: 9:101911496-101911496 GRCh38: 9:99149214-99149214 |
11 |
TGFBR2 |
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) |
SNV |
Likely Pathogenic
|
265447 |
rs886039551 |
GRCh37: 3:30715678-30715678 GRCh38: 3:30674186-30674186 |
12 |
TGFBR1 |
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) |
SNV |
Likely Pathogenic
|
213882 |
rs760079636 |
GRCh37: 9:101904946-101904946 GRCh38: 9:99142664-99142664 |
13 |
TGFBR1 |
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) |
SNV |
Likely Pathogenic
|
213870 |
rs863223807 |
GRCh37: 9:101900152-101900152 GRCh38: 9:99137870-99137870 |
14 |
TGFBR1 |
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) |
SNV |
Likely Pathogenic
|
692013 |
rs1588585570 |
GRCh37: 9:101900329-101900329 GRCh38: 9:99138047-99138047 |
15 |
SMAD2 |
NM_005901.6(SMAD2):c.507_508del (p.Arg169fs) |
MICROSAT |
Likely Pathogenic
|
1709170 |
|
GRCh37: 18:45395626-45395627 GRCh38: 18:47869255-47869256 |
16 |
TGFBR1 |
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) |
SNV |
Likely Pathogenic
|
992362 |
rs1827646767 |
GRCh37: 9:101904839-101904839 GRCh38: 9:99142557-99142557 |
17 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) |
SNV |
Likely Pathogenic
|
652276 |
rs1588598651 |
GRCh37: 9:101911521-101911521 GRCh38: 9:99149239-99149239 |
18 |
TGFBR1 |
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) |
SNV |
Likely Pathogenic
|
1034099 |
rs1827647083 |
GRCh37: 9:101904841-101904841 GRCh38: 9:99142559-99142559 |
19 |
TGFBR1 |
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) |
SNV |
Likely Pathogenic
|
635251 |
rs1564161322 |
GRCh37: 9:101900171-101900171 GRCh38: 9:99137889-99137889 |
20 |
TGFBR1 |
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) |
SNV |
Likely Pathogenic
|
1320270 |
|
GRCh37: 9:101900206-101900206 GRCh38: 9:99137924-99137924 |
21 |
TGFBR1 |
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) |
SNV |
Likely Pathogenic
|
949020 |
rs1564161544 |
GRCh37: 9:101900239-101900239 GRCh38: 9:99137957-99137957 |
22 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) |
SNV |
Likely Pathogenic
|
1332769 |
|
GRCh37: 9:101908834-101908834 GRCh38: 9:99146552-99146552 |
23 |
TGFBR1 |
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) |
SNV |
Likely Pathogenic
|
800489 |
rs1588585506 |
GRCh37: 9:101900301-101900301 GRCh38: 9:99138019-99138019 |
24 |
TGFBR1 |
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) |
SNV |
Likely Pathogenic
|
488621 |
rs727503470 |
GRCh37: 9:101900206-101900206 GRCh38: 9:99137924-99137924 |
25 |
TGFBR1 |
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) |
SNV |
Likely Pathogenic
|
520505 |
rs1554701914 |
GRCh37: 9:101907101-101907101 GRCh38: 9:99144819-99144819 |
26 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*3317C>G |
SNV |
Uncertain Significance
|
364166 |
rs201113438 |
GRCh37: 9:101914904-101914904 GRCh38: 9:99152622-99152622 |
27 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2410C>T |
SNV |
Uncertain Significance
|
364145 |
rs200722893 |
GRCh37: 9:101913997-101913997 GRCh38: 9:99151715-99151715 |
28 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*4147G>A |
SNV |
Uncertain Significance
|
364180 |
rs570685518 |
GRCh37: 9:101915734-101915734 GRCh38: 9:99153452-99153452 |
29 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2103T>G |
SNV |
Uncertain Significance
|
364138 |
rs7871490 |
GRCh37: 9:101913690-101913690 GRCh38: 9:99151408-99151408 |
30 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2799C>T |
SNV |
Uncertain Significance
|
364154 |
rs200274678 |
GRCh37: 9:101914386-101914386 GRCh38: 9:99152104-99152104 |
31 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2791G>A |
SNV |
Uncertain Significance
|
364153 |
rs201846922 |
GRCh37: 9:101914378-101914378 GRCh38: 9:99152096-99152096 |
32 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*1368C>A |
SNV |
Uncertain Significance
|
364117 |
rs886063231 |
GRCh37: 9:101912955-101912955 GRCh38: 9:99150673-99150673 |
33 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2634TCT[1] |
MICROSAT |
Uncertain Significance
|
364147 |
rs886063244 |
GRCh37: 9:101914221-101914223 GRCh38: 9:99151939-99151941 |
34 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*1787T>C |
SNV |
Uncertain Significance
|
364126 |
rs886063235 |
GRCh37: 9:101913374-101913374 GRCh38: 9:99151092-99151092 |
35 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2547A>G |
SNV |
Uncertain Significance
|
364146 |
rs886063243 |
GRCh37: 9:101914134-101914134 GRCh38: 9:99151852-99151852 |
36 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*3482C>G |
SNV |
Uncertain Significance
|
364170 |
rs201952588 |
GRCh37: 9:101915069-101915069 GRCh38: 9:99152787-99152787 |
37 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*1924G>T |
SNV |
Uncertain Significance
|
364128 |
rs886063236 |
GRCh37: 9:101913511-101913511 GRCh38: 9:99151229-99151229 |
38 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*3432G>T |
SNV |
Uncertain Significance
|
364169 |
rs886063251 |
GRCh37: 9:101915019-101915019 GRCh38: 9:99152737-99152737 |
39 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*1772A>C |
SNV |
Uncertain Significance
|
364125 |
rs201191009 |
GRCh37: 9:101913359-101913359 GRCh38: 9:99151077-99151077 |
40 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*309C>T |
SNV |
Uncertain Significance
|
364104 |
rs886063226 |
GRCh37: 9:101911896-101911896 GRCh38: 9:99149614-99149614 |
41 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2833G>A |
SNV |
Uncertain Significance
|
364156 |
rs200520116 |
GRCh37: 9:101914420-101914420 GRCh38: 9:99152138-99152138 |
42 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*4467C>A |
SNV |
Uncertain Significance
|
364184 |
rs886063257 |
GRCh37: 9:101916054-101916054 GRCh38: 9:99153772-99153772 |
43 |
TGFBR1 |
NM_004612.4(TGFBR1):c.-13T>C |
SNV |
Uncertain Significance
|
364096 |
rs886063220 |
GRCh37: 9:101867475-101867475 GRCh38: 9:99105193-99105193 |
44 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*4804dup |
DUP |
Uncertain Significance
|
364192 |
rs561572489 |
GRCh37: 9:101916380-101916381 GRCh38: 9:99154098-99154099 |
45 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*1269T>G |
SNV |
Uncertain Significance
|
364116 |
rs189032587 |
GRCh37: 9:101912856-101912856 GRCh38: 9:99150574-99150574 |
46 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*3567G>A |
SNV |
Uncertain Significance
|
364171 |
rs886063252 |
GRCh37: 9:101915154-101915154 GRCh38: 9:99152872-99152872 |
47 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2768T>A |
SNV |
Uncertain Significance
|
364152 |
rs886063246 |
GRCh37: 9:101914355-101914355 GRCh38: 9:99152073-99152073 |
48 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*2713G>T |
SNV |
Uncertain Significance
|
364151 |
rs886063245 |
GRCh37: 9:101914300-101914300 GRCh38: 9:99152018-99152018 |
49 |
TGFBR1 |
NM_004612.4(TGFBR1):c.-43C>A |
SNV |
Uncertain Significance
|
364095 |
rs886063219 |
GRCh37: 9:101867445-101867445 GRCh38: 9:99105163-99105163 |
50 |
TGFBR1 |
NM_004612.4(TGFBR1):c.*709C>T |
SNV |
Uncertain Significance
|
364109 |
rs886063228 |
GRCh37: 9:101912296-101912296 GRCh38: 9:99150014-99150014 |