1 |
TBX4
|
NM_018488.3(TBX4): c.184C> T (p.Gln62Ter)
|
single nucleotide variant |
Pathogenic |
rs104894648
|
GRCh38 |
Chromosome 17, 61456674: 61456674 |
2 |
TBX4
|
NM_018488.3(TBX4): c.743G> T (p.Gly248Val)
|
single nucleotide variant |
Pathogenic |
rs28938474
|
GRCh37 |
Chromosome 17, 59557282: 59557282 |
3 |
TBX4
|
NM_018488.3(TBX4): c.743G> T (p.Gly248Val)
|
single nucleotide variant |
Pathogenic |
rs28938474
|
GRCh38 |
Chromosome 17, 61479921: 61479921 |
4 |
TBX4
|
NM_018488.3(TBX4): c.184C> T (p.Gln62Ter)
|
single nucleotide variant |
Pathogenic |
rs104894648
|
GRCh37 |
Chromosome 17, 59534035: 59534035 |
5 |
TBX4
|
NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg)
|
single nucleotide variant |
Pathogenic |
rs28936696
|
GRCh37 |
Chromosome 17, 59560831: 59560831 |
6 |
TBX4
|
NM_018488.3(TBX4): c.1592A> G (p.Gln531Arg)
|
single nucleotide variant |
Pathogenic |
rs28936696
|
GRCh38 |
Chromosome 17, 61483470: 61483470 |
7 |
TBX4
|
NM_018488.3(TBX4): c.402-8G> A
|
single nucleotide variant |
Benign |
rs758596
|
GRCh37 |
Chromosome 17, 59544863: 59544863 |
8 |
TBX4
|
NM_018488.3(TBX4): c.402-8G> A
|
single nucleotide variant |
Benign |
rs758596
|
GRCh38 |
Chromosome 17, 61467502: 61467502 |
9 |
TBX4
|
NM_018488.3(TBX4): c.941C> T (p.Ala314Val)
|
single nucleotide variant |
Benign |
rs3744438
|
GRCh37 |
Chromosome 17, 59557600: 59557600 |
10 |
TBX4
|
NM_018488.3(TBX4): c.941C> T (p.Ala314Val)
|
single nucleotide variant |
Benign |
rs3744438
|
GRCh38 |
Chromosome 17, 61480239: 61480239 |
11 |
TBX4
|
NM_018488.3(TBX4): c.1446C> T (p.Val482=)
|
single nucleotide variant |
Benign |
rs2270150
|
GRCh38 |
Chromosome 17, 61483324: 61483324 |
12 |
TBX4
|
NM_018488.3(TBX4): c.1446C> T (p.Val482=)
|
single nucleotide variant |
Benign |
rs2270150
|
GRCh37 |
Chromosome 17, 59560685: 59560685 |
13 |
TBX4
|
NM_018488.3(TBX4): c.172G> A (p.Ala58Thr)
|
single nucleotide variant |
Likely benign |
rs575407008
|
GRCh38 |
Chromosome 17, 61456662: 61456662 |
14 |
TBX4
|
NM_018488.3(TBX4): c.172G> A (p.Ala58Thr)
|
single nucleotide variant |
Likely benign |
rs575407008
|
GRCh37 |
Chromosome 17, 59534023: 59534023 |
15 |
TBX4
|
NM_018488.3(TBX4): c.921C> T (p.Asn307=)
|
single nucleotide variant |
Likely benign |
rs141188668
|
GRCh38 |
Chromosome 17, 61480219: 61480219 |
16 |
TBX4
|
NM_018488.3(TBX4): c.921C> T (p.Asn307=)
|
single nucleotide variant |
Likely benign |
rs141188668
|
GRCh37 |
Chromosome 17, 59557580: 59557580 |
17 |
TBX4
|
NM_018488.3(TBX4): c.1521G> A (p.Ser507=)
|
single nucleotide variant |
Likely benign |
rs188952741
|
GRCh38 |
Chromosome 17, 61483399: 61483399 |
18 |
TBX4
|
NM_018488.3(TBX4): c.1521G> A (p.Ser507=)
|
single nucleotide variant |
Likely benign |
rs188952741
|
GRCh37 |
Chromosome 17, 59560760: 59560760 |
19 |
TBX4
|
NM_018488.3(TBX4): c.1620G> A (p.Glu540=)
|
single nucleotide variant |
Likely benign |
rs762062413
|
GRCh38 |
Chromosome 17, 61483498: 61483498 |
20 |
TBX4
|
NM_018488.3(TBX4): c.1620G> A (p.Glu540=)
|
single nucleotide variant |
Likely benign |
rs762062413
|
GRCh37 |
Chromosome 17, 59560859: 59560859 |
21 |
TBX4
|
NM_018488.3(TBX4): c.*7C> T
|
single nucleotide variant |
Likely benign |
rs149961771
|
GRCh38 |
Chromosome 17, 61483523: 61483523 |
22 |
TBX4
|
NM_018488.3(TBX4): c.*7C> T
|
single nucleotide variant |
Likely benign |
rs149961771
|
GRCh37 |
Chromosome 17, 59560884: 59560884 |
23 |
TBX4
|
NM_018488.3(TBX4): c.*138A> G
|
single nucleotide variant |
Benign |
rs77924694
|
GRCh38 |
Chromosome 17, 61483654: 61483654 |
24 |
TBX4
|
NM_018488.3(TBX4): c.*138A> G
|
single nucleotide variant |
Benign |
rs77924694
|
GRCh37 |
Chromosome 17, 59561015: 59561015 |
25 |
TBX4
|
NM_018488.3(TBX4): c.*661G> A
|
single nucleotide variant |
Uncertain significance |
rs886053194
|
GRCh38 |
Chromosome 17, 61484177: 61484177 |
26 |
TBX4
|
NM_018488.3(TBX4): c.*661G> A
|
single nucleotide variant |
Uncertain significance |
rs886053194
|
GRCh37 |
Chromosome 17, 59561538: 59561538 |
27 |
TBX4
|
NM_018488.3(TBX4): c.*707G> T
|
single nucleotide variant |
Benign |
rs3744437
|
GRCh38 |
Chromosome 17, 61484223: 61484223 |
28 |
TBX4
|
NM_018488.3(TBX4): c.*707G> T
|
single nucleotide variant |
Benign |
rs3744437
|
GRCh37 |
Chromosome 17, 59561584: 59561584 |
29 |
TBX4
|
NM_018488.3(TBX4): c.17G> C (p.Gly6Ala)
|
single nucleotide variant |
Benign |
rs3744448
|
GRCh38 |
Chromosome 17, 61456507: 61456507 |
30 |
TBX4
|
NM_018488.3(TBX4): c.17G> C (p.Gly6Ala)
|
single nucleotide variant |
Benign |
rs3744448
|
GRCh37 |
Chromosome 17, 59533868: 59533868 |
31 |
TBX4
|
NM_018488.3(TBX4): c.110C> T (p.Pro37Leu)
|
single nucleotide variant |
Uncertain significance |
rs886053187
|
GRCh38 |
Chromosome 17, 61456600: 61456600 |
32 |
TBX4
|
NM_018488.3(TBX4): c.110C> T (p.Pro37Leu)
|
single nucleotide variant |
Uncertain significance |
rs886053187
|
GRCh37 |
Chromosome 17, 59533961: 59533961 |
33 |
TBX4
|
NM_018488.3(TBX4): c.187-15C> T
|
single nucleotide variant |
Likely benign |
rs376619036
|
GRCh38 |
Chromosome 17, 61457522: 61457522 |
34 |
TBX4
|
NM_018488.3(TBX4): c.187-15C> T
|
single nucleotide variant |
Likely benign |
rs376619036
|
GRCh37 |
Chromosome 17, 59534883: 59534883 |
35 |
TBX4
|
NM_018488.3(TBX4): c.759T> A (p.Asp253Glu)
|
single nucleotide variant |
Uncertain significance |
rs370445458
|
GRCh38 |
Chromosome 17, 61479937: 61479937 |
36 |
TBX4
|
NM_018488.3(TBX4): c.759T> A (p.Asp253Glu)
|
single nucleotide variant |
Uncertain significance |
rs370445458
|
GRCh37 |
Chromosome 17, 59557298: 59557298 |
37 |
TBX4
|
NM_018488.3(TBX4): c.791+11G> A
|
single nucleotide variant |
Uncertain significance |
rs368363345
|
GRCh38 |
Chromosome 17, 61479980: 61479980 |
38 |
TBX4
|
NM_018488.3(TBX4): c.791+11G> A
|
single nucleotide variant |
Uncertain significance |
rs368363345
|
GRCh37 |
Chromosome 17, 59557341: 59557341 |
39 |
TBX4
|
NM_018488.3(TBX4): c.1005C> T (p.His335=)
|
single nucleotide variant |
Likely benign |
rs577197197
|
GRCh38 |
Chromosome 17, 61480303: 61480303 |
40 |
TBX4
|
NM_018488.3(TBX4): c.1005C> T (p.His335=)
|
single nucleotide variant |
Likely benign |
rs577197197
|
GRCh37 |
Chromosome 17, 59557664: 59557664 |
41 |
TBX4
|
NM_018488.3(TBX4): c.1070C> T (p.Ala357Val)
|
single nucleotide variant |
Uncertain significance |
rs147641113
|
GRCh38 |
Chromosome 17, 61482948: 61482948 |
42 |
TBX4
|
NM_018488.3(TBX4): c.1070C> T (p.Ala357Val)
|
single nucleotide variant |
Uncertain significance |
rs147641113
|
GRCh37 |
Chromosome 17, 59560309: 59560309 |
43 |
TBX4
|
NM_018488.3(TBX4): c.1083G> C (p.Val361=)
|
single nucleotide variant |
Likely benign |
rs61739274
|
GRCh37 |
Chromosome 17, 59560322: 59560322 |
44 |
TBX4
|
NM_018488.3(TBX4): c.1083G> C (p.Val361=)
|
single nucleotide variant |
Likely benign |
rs61739274
|
GRCh38 |
Chromosome 17, 61482961: 61482961 |
45 |
TBX4
|
NM_018488.3(TBX4): c.1155G> A (p.Glu385=)
|
single nucleotide variant |
Likely benign |
rs774920212
|
GRCh38 |
Chromosome 17, 61483033: 61483033 |
46 |
TBX4
|
NM_018488.3(TBX4): c.1155G> A (p.Glu385=)
|
single nucleotide variant |
Likely benign |
rs774920212
|
GRCh37 |
Chromosome 17, 59560394: 59560394 |
47 |
TBX4
|
NM_018488.3(TBX4): c.1512G> A (p.Lys504=)
|
single nucleotide variant |
Likely benign |
rs117324438
|
GRCh38 |
Chromosome 17, 61483390: 61483390 |
48 |
TBX4
|
NM_018488.3(TBX4): c.1512G> A (p.Lys504=)
|
single nucleotide variant |
Likely benign |
rs117324438
|
GRCh37 |
Chromosome 17, 59560751: 59560751 |
49 |
TBX4
|
NM_018488.3(TBX4): c.*25G> A
|
single nucleotide variant |
Likely benign |
rs185650741
|
GRCh38 |
Chromosome 17, 61483541: 61483541 |
50 |
TBX4
|
NM_018488.3(TBX4): c.*25G> A
|
single nucleotide variant |
Likely benign |
rs185650741
|
GRCh37 |
Chromosome 17, 59560902: 59560902 |