1 |
SMAD3 |
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) |
DEL |
Pathogenic
|
30307 |
rs587776880 |
GRCh37: 15:67473661-67473662 GRCh38: 15:67181323-67181324 |
2 |
SMAD3 |
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) |
SNV |
Pathogenic
|
30308 |
rs387906851 |
GRCh37: 15:67473702-67473702 GRCh38: 15:67181364-67181364 |
3 |
SMAD3 |
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) |
SNV |
Pathogenic
|
30310 |
rs387906852 |
GRCh37: 15:67473756-67473756 GRCh38: 15:67181418-67181418 |
4 |
SMAD3 |
NM_005902.4(SMAD3):c.313del (p.Ala105fs) |
DEL |
Pathogenic
|
30313 |
rs587776882 |
GRCh37: 15:67457337-67457337 GRCh38: 15:67164999-67164999 |
5 |
SMAD3 |
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter) |
SNV |
Pathogenic
|
30315 |
rs387906856 |
GRCh37: 15:67479774-67479774 GRCh38: 15:67187436-67187436 |
6 |
SMAD3 |
NM_005902.4(SMAD3):c.736del (p.Glu246fs) |
DEL |
Pathogenic
|
694380 |
rs1595956538 |
GRCh37: 15:67473653-67473653 GRCh38: 15:67181315-67181315 |
7 |
SMAD3 |
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup) |
MICROSAT |
Pathogenic
|
694381 |
rs1595941653 |
GRCh37: 15:67457291-67457292 GRCh38: 15:67164953-67164954 |
8 |
SMAD3 |
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) |
SNV |
Pathogenic
|
263520 |
rs886038836 |
GRCh37: 15:67479846-67479846 GRCh38: 15:67187508-67187508 |
9 |
SMAD3 |
NM_005902.4(SMAD3):c.874del (p.Arg292fs) |
DEL |
Pathogenic
|
694383 |
rs1595960347 |
GRCh37: 15:67477066-67477066 GRCh38: 15:67184728-67184728 |
10 |
SMAD3 |
NM_005902.4(SMAD3):c.668del (p.Pro223fs) |
DEL |
Pathogenic
|
694384 |
rs1595956416 |
GRCh37: 15:67473587-67473587 GRCh38: 15:67181249-67181249 |
11 |
SMAD3 |
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) |
SNV |
Pathogenic
|
30306 |
rs387906850 |
GRCh37: 15:67473779-67473779 GRCh38: 15:67181441-67181441 |
12 |
SMAD3 |
NM_005902.4(SMAD3):c.653del (p.Asn218fs) |
DEL |
Pathogenic
|
30309 |
rs587776881 |
GRCh37: 15:67462936-67462936 GRCh38: 15:67170598-67170598 |
13 |
SMAD3 |
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) |
SNV |
Pathogenic
|
30312 |
rs387906854 |
GRCh37: 15:67457361-67457361 GRCh38: 15:67165023-67165023 |
14 |
SMAD3 |
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) |
SNV |
Likely Pathogenic
|
30314 |
rs387906855 |
GRCh37: 15:67473708-67473708 GRCh38: 15:67181370-67181370 |
15 |
SMAD3 |
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) |
INDEL |
Likely Pathogenic
|
1334527 |
|
GRCh37: 15:67473728-67473732 GRCh38: 15:67181390-67181394 |
16 |
SMAD3 |
NM_005902.4(SMAD3):c.789del (p.Ser264fs) |
DEL |
Likely Pathogenic
|
834060 |
rs1963050712 |
GRCh37: 15:67473706-67473706 GRCh38: 15:67181368-67181368 |
17 |
SMAD3 |
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) |
SNV |
Likely Pathogenic
|
930360 |
rs1555405092 |
GRCh37: 15:67358493-67358493 GRCh38: 15:67066155-67066155 |
18 |
SMAD3 |
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) |
SNV |
Likely Pathogenic
|
180524 |
rs730880214 |
GRCh37: 15:67473780-67473780 GRCh38: 15:67181442-67181442 |
19 |
SMAD3 |
NM_005902.4(SMAD3):c.304G>T (p.Glu102Ter) |
SNV |
Likely Pathogenic
|
975879 |
rs1962537574 |
GRCh37: 15:67457330-67457330 GRCh38: 15:67164992-67164992 |
20 |
SMAD3 |
NM_005902.4(SMAD3):c.991G>T (p.Val331Phe) |
SNV |
Likely Pathogenic
|
694385 |
rs1320208623 |
GRCh37: 15:67477184-67477184 GRCh38: 15:67184846-67184846 |
21 |
SMAD3 |
NM_005902.4(SMAD3):c.334_335delinsCT (p.Ala112Leu) |
INDEL |
Likely Pathogenic
|
694382 |
rs1595941823 |
GRCh37: 15:67457360-67457361 GRCh38: 15:67165022-67165023 |
22 |
SMAD3 |
NM_005902.4(SMAD3):c.916G>T (p.Glu306Ter) |
SNV |
Likely Pathogenic
|
1709587 |
|
GRCh37: 15:67477109-67477109 GRCh38: 15:67184771-67184771 |
23 |
SMAD3 |
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu) |
SNV |
Likely Pathogenic
|
803102 |
rs1595962708 |
GRCh37: 15:67479787-67479787 GRCh38: 15:67187449-67187449 |
24 |
SMAD3 |
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) |
SNV |
Likely Pathogenic
|
1174530 |
|
GRCh37: 15:67358495-67358495 GRCh38: 15:67066157-67066157 |
25 |
SMAD3 |
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) |
DEL |
Likely Pathogenic
|
1330798 |
|
GRCh37: 15:67457633-67457643 GRCh38: 15:67165295-67165305 |
26 |
SMAD3 |
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) |
SNV |
Likely Pathogenic
|
449264 |
rs1555414503 |
GRCh37: 15:67482864-67482864 GRCh38: 15:67190526-67190526 |
27 |
SMAD3 |
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) |
SNV |
Likely Pathogenic
|
30311 |
rs387906853 |
GRCh37: 15:67473635-67473635 GRCh38: 15:67181297-67181297 |
28 |
SMAD6 |
NM_005585.5(SMAD6):c.1412_1413delinsT (p.Gly471fs) |
INDEL |
Uncertain Significance
|
570546 |
rs1567116253 |
GRCh37: 15:67073794-67073795 GRCh38: 15:66781456-66781457 |
29 |
SMAD6 |
NM_005585.5(SMAD6):c.364G>T (p.Glu122Ter) |
SNV |
Uncertain Significance
|
567671 |
rs1567091529 |
GRCh37: 15:66995960-66995960 GRCh38: 15:66703622-66703622 |
30 |
SMAD6 |
NM_005585.5(SMAD6):c.1377C>G (p.Tyr459Ter) |
SNV |
Uncertain Significance
|
576250 |
rs1290060451 |
GRCh37: 15:67073759-67073759 GRCh38: 15:66781421-66781421 |
31 |
SMAD6 |
NM_005585.5(SMAD6):c.301G>A (p.Gly101Arg) |
SNV |
Uncertain Significance
|
582152 |
rs1433694123 |
GRCh37: 15:66995897-66995897 GRCh38: 15:66703559-66703559 |
32 |
SMAD6 |
NM_005585.5(SMAD6):c.278T>C (p.Met93Thr) |
SNV |
Uncertain Significance
|
405514 |
rs985309653 |
GRCh37: 15:66995874-66995874 GRCh38: 15:66703536-66703536 |
33 |
SMAD6 |
NM_005585.5(SMAD6):c.2T>G (p.Met1Arg) |
SNV |
Uncertain Significance
|
471756 |
rs1409145798 |
GRCh37: 15:66995598-66995598 GRCh38: 15:66703260-66703260 |
34 |
SMAD3 |
NM_005902.4(SMAD3):c.228G>T (p.Gln76His) |
SNV |
Uncertain Significance
|
268091 |
rs886041046 |
GRCh37: 15:67457254-67457254 GRCh38: 15:67164916-67164916 |
35 |
SMAD3 |
NM_005902.4(SMAD3):c.*552G>T |
SNV |
Uncertain Significance
|
316877 |
rs769408016 |
GRCh37: 15:67483426-67483426 GRCh38: 15:67191088-67191088 |
36 |
SMAD3 |
NM_005902.4(SMAD3):c.*1819C>T |
SNV |
Uncertain Significance
|
316919 |
rs886051406 |
GRCh37: 15:67484693-67484693 GRCh38: 15:67192355-67192355 |
37 |
SMAD3 |
NM_005902.4(SMAD3):c.607+9T>A |
SNV |
Uncertain Significance
|
316861 |
rs886051380 |
GRCh37: 15:67459200-67459200 GRCh38: 15:67166862-67166862 |
38 |
SMAD3 |
NM_005902.4(SMAD3):c.*250C>A |
SNV |
Uncertain Significance
|
316867 |
rs754034578 |
GRCh37: 15:67483124-67483124 GRCh38: 15:67190786-67190786 |
39 |
SMAD3 |
NM_005902.4(SMAD3):c.*925G>A |
SNV |
Uncertain Significance
|
316890 |
rs886051389 |
GRCh37: 15:67483799-67483799 GRCh38: 15:67191461-67191461 |
40 |
SMAD6 |
NM_005585.5(SMAD6):c.1154G>A (p.Ser385Asn) |
SNV |
Uncertain Significance
|
471745 |
rs1555440093 |
GRCh37: 15:67073536-67073536 GRCh38: 15:66781198-66781198 |
41 |
SMAD6 |
NM_005585.5(SMAD6):c.1294C>G (p.Pro432Ala) |
SNV |
Uncertain Significance
|
471748 |
rs758115595 |
GRCh37: 15:67073676-67073676 GRCh38: 15:66781338-66781338 |
42 |
SMAD6 |
NM_005585.5(SMAD6):c.841C>T (p.Arg281Trp) |
SNV |
Uncertain Significance
|
471764 |
rs200004068 |
GRCh37: 15:67004029-67004029 GRCh38: 15:66711691-66711691 |
43 |
SMAD6 |
NM_005585.5(SMAD6):c.814C>T (p.Pro272Ser) |
SNV |
Uncertain Significance
|
471763 |
rs781458675 |
GRCh37: 15:66996410-66996410 GRCh38: 15:66704072-66704072 |
44 |
SMAD6 |
NM_005585.5(SMAD6):c.1445C>G (p.Thr482Ser) |
SNV |
Uncertain Significance
|
539112 |
rs1239470869 |
GRCh37: 15:67073827-67073827 GRCh38: 15:66781489-66781489 |
45 |
SMAD6 |
NM_005585.5(SMAD6):c.239C>T (p.Ala80Val) |
SNV |
Uncertain Significance
|
539114 |
rs1555434180 |
GRCh37: 15:66995835-66995835 GRCh38: 15:66703497-66703497 |
46 |
SMAD6 |
NM_005585.5(SMAD6):c.1405G>C (p.Ala469Pro) |
SNV |
Uncertain Significance
|
539115 |
rs1416212959 |
GRCh37: 15:67073787-67073787 GRCh38: 15:66781449-66781449 |
47 |
SMAD6 |
NM_005585.5(SMAD6):c.588G>T (p.Glu196Asp) |
SNV |
Uncertain Significance
|
567088 |
rs1567091749 |
GRCh37: 15:66996184-66996184 GRCh38: 15:66703846-66703846 |
48 |
SMAD6 |
NM_005585.5(SMAD6):c.89G>C (p.Gly30Ala) |
SNV |
Uncertain Significance
|
568988 |
rs1567091237 |
GRCh37: 15:66995685-66995685 GRCh38: 15:66703347-66703347 |
49 |
SMAD6 |
NM_005585.5(SMAD6):c.728C>T (p.Pro243Leu) |
SNV |
Uncertain Significance
|
571024 |
rs946670694 |
GRCh37: 15:66996324-66996324 GRCh38: 15:66703986-66703986 |
50 |
SMAD6 |
NM_005585.5(SMAD6):c.656C>G (p.Pro219Arg) |
SNV |
Uncertain Significance
|
573082 |
rs1567091826 |
GRCh37: 15:66996252-66996252 GRCh38: 15:66703914-66703914 |