1 |
TBX4 |
NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) |
SNV |
Pathogenic
|
7855 |
rs28938474 |
GRCh37: 17:59557282-59557282 GRCh38: 17:61479921-61479921 |
2 |
TBX4 |
NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) |
SNV |
Pathogenic
|
7856 |
rs104894648 |
GRCh37: 17:59534035-59534035 GRCh38: 17:61456674-61456674 |
3 |
TBX4 |
NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) |
SNV |
Pathogenic
|
7857 |
rs28936696 |
GRCh37: 17:59560831-59560831 GRCh38: 17:61483470-61483470 |
4 |
TBX4 |
NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) |
SNV |
Pathogenic
|
805945 |
rs1603251001 |
GRCh37: 17:59543237-59543237 GRCh38: 17:61465876-61465876 |
5 |
TBX4 |
NM_001321120.2(TBX4):c.281+1G>T |
SNV |
Pathogenic
|
807511 |
rs1555881112 |
GRCh37: 17:59534993-59534993 GRCh38: 17:61457632-61457632 |
6 |
TBX4 |
NM_001321120.2(TBX4):c.355dup (p.Ile119fs) |
DUP |
Pathogenic
|
633610 |
rs1569036773 |
GRCh37: 17:59543252-59543253 GRCh38: 17:61465891-61465892 |
7 |
TBX4 |
NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) |
SNV |
Pathogenic
|
1341404 |
|
GRCh37: 17:59557320-59557320 GRCh38: 17:61479959-61479959 |
8 |
TBX4 |
NM_001321120.2(TBX4):c.251del (p.Gly84fs) |
DEL |
Pathogenic
|
800703 |
rs1603248606 |
GRCh37: 17:59534960-59534960 GRCh38: 17:61457599-61457599 |
9 |
TBX4 |
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) |
SNV |
Pathogenic
Pathogenic
|
800704 |
rs1603256040 |
GRCh37: 17:59560293-59560293 GRCh38: 17:61482932-61482932 |
10 |
TBX4 |
NM_001321120.2(TBX4):c.792-1G>C |
SNV |
Pathogenic
|
800705 |
rs1603255224 |
GRCh37: 17:59557450-59557450 GRCh38: 17:61480089-61480089 |
11 |
TBX4 |
NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) |
SNV |
Pathogenic
|
279597 |
rs886041115 |
GRCh37: 17:59555995-59555995 GRCh38: 17:61478634-61478634 |
12 |
TBX4 |
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) |
SNV |
Pathogenic
|
638159 |
rs1603251494 |
GRCh37: 17:59544871-59544871 GRCh38: 17:61467510-61467510 |
13 |
TBX4 |
NM_001321120.2(TBX4):c.1021+1G>A |
SNV |
Likely Pathogenic
|
1327321 |
|
GRCh37: 17:59557681-59557681 GRCh38: 17:61480320-61480320 |
14 |
TBX4 |
NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) |
SNV |
Likely Pathogenic
|
1341438 |
|
GRCh37: 17:59543214-59543214 GRCh38: 17:61465853-61465853 |
15 |
TBX4 |
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) |
DUP |
Likely Pathogenic
Likely Pathogenic
Not Provided
|
812880 |
rs754897911 |
GRCh37: 17:59560344-59560345 GRCh38: 17:61482983-61482984 |
16 |
TBX4 |
NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) |
DEL |
Likely Pathogenic
|
548695 |
rs1555882291 |
GRCh37: 17:59545006-59545015 GRCh38: 17:61467645-61467654 |
17 |
TBX4 |
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) |
SNV |
Likely Pathogenic
|
1685462 |
|
GRCh37: 17:59533854-59533854 GRCh38: 17:61456493-61456493 |
18 |
TBX4 |
NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) |
SNV |
Likely Pathogenic
|
982403 |
rs2060654742 |
GRCh37: 17:59557638-59557638 GRCh38: 17:61480277-61480277 |
19 |
TBX4 |
NM_001321120.2(TBX4):c.401+3A>T |
SNV |
Uncertain Significance
|
1188835 |
|
GRCh37: 17:59543302-59543302 GRCh38: 17:61465941-61465941 |
20 |
TBX4 |
NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) |
SNV |
Uncertain Significance
|
800781 |
rs1603251548 |
GRCh37: 17:59544993-59544993 GRCh38: 17:61467632-61467632 |
21 |
TBX4 |
NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) |
SNV |
Uncertain Significance
|
324245 |
rs886053187 |
GRCh37: 17:59533961-59533961 GRCh38: 17:61456600-61456600 |
22 |
TBX4 |
NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) |
SNV |
Uncertain Significance
|
890662 |
rs752732593 |
GRCh37: 17:59556096-59556096 GRCh38: 17:61478735-61478735 |
23 |
TBX4 |
NM_001321120.2(TBX4):c.*409G>A |
SNV |
Uncertain Significance
|
890715 |
rs2060686079 |
GRCh37: 17:59561286-59561286 GRCh38: 17:61483925-61483925 |
24 |
TBX4 |
NM_001321120.2(TBX4):c.*428G>A |
SNV |
Uncertain Significance
|
890716 |
rs892751603 |
GRCh37: 17:59561305-59561305 GRCh38: 17:61483944-61483944 |
25 |
TBX4 |
NM_001321120.2(TBX4):c.*607G>T |
SNV |
Uncertain Significance
|
890717 |
rs1466455515 |
GRCh37: 17:59561484-59561484 GRCh38: 17:61484123-61484123 |
26 |
TBX4 |
NM_001321120.2(TBX4):c.791+11G>T |
SNV |
Uncertain Significance
|
891901 |
rs368363345 |
GRCh37: 17:59557341-59557341 GRCh38: 17:61479980-61479980 |
27 |
TBX4 |
NM_001321120.2(TBX4):c.47C>T (p.Ala16Val) |
SNV |
Uncertain Significance
|
889395 |
rs1470554283 |
GRCh37: 17:59533898-59533898 GRCh38: 17:61456537-61456537 |
28 |
TBX4 |
NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) |
SNV |
Uncertain Significance
|
889448 |
rs2060675576 |
GRCh37: 17:59560345-59560345 GRCh38: 17:61482984-61482984 |
29 |
TBX4 |
NM_001321120.2(TBX4):c.1215G>T (p.Val405=) |
SNV |
Uncertain Significance
|
889449 |
rs751591708 |
GRCh37: 17:59560451-59560451 GRCh38: 17:61483090-61483090 |
30 |
TBX4 |
NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) |
SNV |
Uncertain Significance
|
889450 |
rs1224135577 |
GRCh37: 17:59560513-59560513 GRCh38: 17:61483152-61483152 |
31 |
TBX4 |
NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) |
SNV |
Uncertain Significance
|
889451 |
rs766266920 |
GRCh37: 17:59560637-59560637 GRCh38: 17:61483276-61483276 |
32 |
TBX4 |
NM_001321120.2(TBX4):c.150C>T (p.Pro50=) |
SNV |
Uncertain Significance
|
890083 |
rs763175971 |
GRCh37: 17:59534001-59534001 GRCh38: 17:61456640-61456640 |
33 |
TBX4 |
NM_001321120.2(TBX4):c.*627T>C |
SNV |
Uncertain Significance
|
324282 |
rs886053193 |
GRCh37: 17:59561504-59561504 GRCh38: 17:61484143-61484143 |
34 |
TBX4 |
NM_001321120.2(TBX4):c.*98GT[25] |
MICROSAT |
Uncertain Significance
|
324270 |
rs149977669 |
GRCh37: 17:59560974-59560975 GRCh38: 17:61483613-61483614 |
35 |
TBX4 |
NM_001321120.2(TBX4):c.*98GT[18] |
MICROSAT |
Uncertain Significance
|
324273 |
rs149977669 |
GRCh37: 17:59560975-59560978 GRCh38: 17:61483614-61483617 |
36 |
TBX4 |
NM_001321120.2(TBX4):c.*137TA[1] |
MICROSAT |
Uncertain Significance
|
324276 |
rs60535903 |
GRCh37: 17:59561014-59561015 GRCh38: 17:61483653-61483654 |
37 |
TBX4 |
NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) |
SNV |
Uncertain Significance
|
324253 |
rs370445458 |
GRCh37: 17:59557298-59557298 GRCh38: 17:61479937-61479937 |
38 |
TBX4 |
NM_001321120.2(TBX4):c.*98GT[26] |
MICROSAT |
Uncertain Significance
|
324271 |
rs149977669 |
GRCh37: 17:59560974-59560975 GRCh38: 17:61483613-61483614 |
39 |
TBX4 |
NM_001321120.2(TBX4):c.*661G>A |
SNV |
Uncertain Significance
|
324283 |
rs886053194 |
GRCh37: 17:59561538-59561538 GRCh38: 17:61484177-61484177 |
40 |
TBX4 |
NM_001321120.2(TBX4):c.*98GT[27] |
MICROSAT |
Uncertain Significance
|
324272 |
rs149977669 |
GRCh37: 17:59560974-59560975 GRCh38: 17:61483613-61483614 |
41 |
TBX4 |
NM_001321120.2(TBX4):c.*136_*139del |
DEL |
Uncertain Significance
|
324275 |
rs886053189 |
GRCh37: 17:59561012-59561015 GRCh38: 17:61483651-61483654 |
42 |
TBX4 |
NM_001321120.2(TBX4):c.*252G>C |
SNV |
Uncertain Significance
|
324278 |
rs886053191 |
GRCh37: 17:59561129-59561129 GRCh38: 17:61483768-61483768 |
43 |
TBX4 |
NM_001321120.2(TBX4):c.*383G>T |
SNV |
Uncertain Significance
|
324281 |
rs886053192 |
GRCh37: 17:59561260-59561260 GRCh38: 17:61483899-61483899 |
44 |
TBX4 |
NM_001321120.2(TBX4):c.*98GT[24] |
MICROSAT |
Uncertain Significance
|
324269 |
rs149977669 |
GRCh37: 17:59560974-59560975 GRCh38: 17:61483613-61483614 |
45 |
TBX4 |
NM_001321120.2(TBX4):c.108G>T (p.Ala36=) |
SNV |
Uncertain Significance
|
324244 |
rs886053186 |
GRCh37: 17:59533959-59533959 GRCh38: 17:61456598-61456598 |
46 |
TBX4 |
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) |
SNV |
Uncertain Significance
|
1185696 |
|
GRCh37: 17:59543190-59543190 GRCh38: 17:61465829-61465829 |
47 |
TBX4 |
NM_001321120.2(TBX4):c.1090del (p.Glu364fs) |
DEL |
Uncertain Significance
|
975902 |
rs2060675350 |
GRCh37: 17:59560322-59560322 GRCh38: 17:61482961-61482961 |
48 |
TBX4 |
NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) |
SNV |
Likely Benign
|
324258 |
rs147641113 |
GRCh37: 17:59560309-59560309 GRCh38: 17:61482948-61482948 |
49 |
TBX4 |
NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) |
SNV |
Likely Benign
|
891902 |
rs372115732 |
GRCh37: 17:59560341-59560341 GRCh38: 17:61482980-61482980 |
50 |
TBX4 |
NM_001321120.2(TBX4):c.*313A>C |
SNV |
Likely Benign
|
324279 |
rs141279587 |
GRCh37: 17:59561190-59561190 GRCh38: 17:61483829-61483829 |