1 |
BMPR1B |
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) |
Deletion |
Pathogenic |
6557 |
rs863223287 |
4:96044970-96044977 |
4:95123819-95123826 |
2 |
BMPR1B |
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) |
SNV |
Pathogenic |
217255 |
rs863225042 |
4:96051084-96051084 |
4:95129933-95129933 |
3 |
BMPR1B |
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) |
SNV |
Pathogenic |
217256 |
rs745854387 |
4:96025666-96025666 |
4:95104515-95104515 |
4 |
BMPR1B |
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) |
SNV |
Pathogenic |
217254 |
rs863225041 |
4:96035884-96035884 |
4:95114733-95114733 |
5 |
BMPR1B |
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser) |
SNV |
Pathogenic |
446284 |
rs1553941890 |
4:96051067-96051067 |
4:95129916-95129916 |
6 |
BMPR1B |
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr) |
SNV |
Likely pathogenic |
689613 |
rs1177728492 |
4:96052575-96052575 |
4:95131424-95131424 |
7 |
BMPR1B |
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln) |
SNV |
Uncertain significance |
441001 |
rs34970181 |
4:96069934-96069934 |
4:95148783-95148783 |
8 |
BMPR1B |
NM_001203.3(BMPR1B):c.613C>G (p.Gln205Glu) |
SNV |
Uncertain significance |
638863 |
rs766791531 |
4:96051040-96051040 |
4:95129889-95129889 |
9 |
BMPR1B |
NM_001203.3(BMPR1B):c.476A>G (p.Tyr159Cys) |
SNV |
Uncertain significance |
639889 |
rs1579119447 |
4:96046163-96046163 |
4:95125012-95125012 |
10 |
BMPR1B |
NM_001203.3(BMPR1B):c.726C>G (p.Phe242Leu) |
SNV |
Uncertain significance |
653555 |
rs376819253 |
4:96051153-96051153 |
4:95130002-95130002 |
11 |
BMPR1B |
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile) |
SNV |
Uncertain significance |
663972 |
rs200083866 |
4:96036840-96036840 |
4:95115689-95115689 |
12 |
BMPR1B |
NM_001203.3(BMPR1B):c.724T>G (p.Phe242Val) |
SNV |
Uncertain significance |
850714 |
|
4:96051151-96051151 |
4:95130000-95130000 |
13 |
BMPR1B |
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) |
SNV |
Uncertain significance |
350123 |
rs577188671 |
4:96069924-96069924 |
4:95148773-95148773 |
14 |
BMPR1B |
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) |
SNV |
Uncertain significance |
350117 |
rs35973133 |
4:96051098-96051098 |
4:95129947-95129947 |
15 |
BMPR1B |
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) |
SNV |
Likely benign |
906582 |
|
4:96025586-96025586 |
4:95104435-95104435 |
16 |
BMPR1B |
NM_001203.3(BMPR1B):c.1035T>G (p.Thr345=) |
SNV |
Likely benign |
772926 |
rs760647140 |
4:96052622-96052622 |
4:95131471-95131471 |
17 |
BMPR1B |
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) |
SNV |
Likely benign |
218545 |
rs138801821 |
4:96045029-96045029 |
4:95123878-95123878 |
18 |
BMPR1B |
NM_001203.3(BMPR1B):c.430T>C (p.Leu144=) |
SNV |
Likely benign |
464044 |
rs55980670 |
4:96045041-96045041 |
4:95123890-95123890 |
19 |
BMPR1B |
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) |
SNV |
Benign |
350118 |
rs56083112 |
4:96051132-96051132 |
4:95129981-95129981 |
20 |
BMPR1B |
NM_001203.3(BMPR1B):c.*141C>T |
SNV |
Benign |
350131 |
rs1434536 |
4:96075965-96075965 |
4:95154814-95154814 |
21 |
BMPR1B |
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) |
SNV |
Benign |
350116 |
rs34231464 |
4:96045056-96045056 |
4:95123905-95123905 |
22 |
BMPR1B |
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) |
SNV |
Benign |
703948 |
rs140430323 |
4:96075791-96075791 |
4:95154640-95154640 |
23 |
BMPR1B |
NM_001203.3(BMPR1B):c.1384-8T>C |
SNV |
Benign |
350126 |
rs201359647 |
4:96075691-96075691 |
4:95154540-95154540 |
24 |
BMPR1B |
NM_001203.3(BMPR1B):c.247-4A>G |
SNV |
Benign |
283921 |
rs570808649 |
4:96036832-96036832 |
4:95115681-95115681 |