1 |
BMP1 |
NM_006129.5(BMP1):c.747C>G (p.Phe249Leu) |
SNV |
Pathogenic |
37306 |
rs398122891 |
8:22035381-22035381 |
8:22177868-22177868 |
2 |
BMP1 |
NM_006129.5(BMP1):c.34G>C (p.Gly12Arg) |
SNV |
Pathogenic |
37307 |
rs318240762 |
8:22022952-22022952 |
8:22165439-22165439 |
3 |
BMP1 |
NM_006129.5(BMP1):c.2108-359T>C |
SNV |
Pathogenic |
190231 |
rs786205217 |
8:22058957-22058957 |
8:22201444-22201444 |
4 |
BMP1 |
NM_006129.5(BMP1):c.2107G>C (p.Asp703His) |
SNV |
Pathogenic |
190232 |
rs786205218 |
8:22054933-22054933 |
8:22197420-22197420 |
5 |
BMP1 |
NM_006129.5(BMP1):c.808A>G (p.Met270Val) |
SNV |
Pathogenic |
190233 |
rs786205219 |
8:22035442-22035442 |
8:22177929-22177929 |
6 |
BMP1 |
NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) |
SNV |
Pathogenic |
190234 |
rs786205220 |
8:22051687-22051687 |
8:22194174-22194174 |
7 |
BMP1 |
NM_006129.5(BMP1):c.2724C>T (p.Thr908=) |
SNV |
Conflicting interpretations of pathogenicity |
362604 |
rs140092629 |
8:22067106-22067106 |
8:22209593-22209593 |
8 |
BMP1 |
NM_006129.5(BMP1):c.2406C>T (p.Tyr802=) |
SNV |
Conflicting interpretations of pathogenicity |
362594 |
rs144666655 |
8:22064860-22064860 |
8:22207347-22207347 |
9 |
BMP1 |
NM_006129.5(BMP1):c.2847G>A (p.Ser949=) |
SNV |
Conflicting interpretations of pathogenicity |
748146 |
|
8:22069127-22069127 |
8:22211614-22211614 |
10 |
BMP1 |
NM_006129.5(BMP1):c.2700C>T (p.Tyr900=) |
SNV |
Conflicting interpretations of pathogenicity |
764850 |
|
8:22067082-22067082 |
8:22209569-22209569 |
11 |
BMP1 |
NM_006129.5(BMP1):c.1938C>T (p.Tyr646=) |
SNV |
Conflicting interpretations of pathogenicity |
799728 |
|
8:22054764-22054764 |
8:22197251-22197251 |
12 |
BMP1 |
NM_006129.5(BMP1):c.2487C>A (p.Pro829=) |
SNV |
Conflicting interpretations of pathogenicity |
793400 |
|
8:22064941-22064941 |
8:22207428-22207428 |
13 |
BMP1 |
NM_006129.5(BMP1):c.*172A>C |
SNV |
Uncertain significance |
910425 |
|
8:22069413-22069413 |
8:22211900-22211900 |
14 |
BMP1 |
NM_006129.5(BMP1):c.*208G>T |
SNV |
Uncertain significance |
910426 |
|
8:22069449-22069449 |
8:22211936-22211936 |
15 |
BMP1 |
NM_006129.5(BMP1):c.204A>G (p.Val68=) |
SNV |
Uncertain significance |
911523 |
|
8:22031170-22031170 |
8:22173657-22173657 |
16 |
BMP1 |
NM_006129.5(BMP1):c.455G>A (p.Arg152Gln) |
SNV |
Uncertain significance |
911524 |
|
8:22034067-22034067 |
8:22176554-22176554 |
17 |
BMP1 |
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) |
SNV |
Uncertain significance |
908567 |
|
8:22037963-22037963 |
8:22180450-22180450 |
18 |
BMP1 |
NM_006129.5(BMP1):c.1522C>T (p.Arg508Cys) |
SNV |
Uncertain significance |
909423 |
|
8:22052315-22052315 |
8:22194802-22194802 |
19 |
BMP1 |
NM_006129.5(BMP1):c.1678G>A (p.Glu560Lys) |
SNV |
Uncertain significance |
909425 |
|
8:22053013-22053013 |
8:22195500-22195500 |
20 |
BMP1 |
NM_006129.5(BMP1):c.1804A>G (p.Ile602Val) |
SNV |
Uncertain significance |
910374 |
|
8:22054231-22054231 |
8:22196718-22196718 |
21 |
BMP1 |
NM_006129.5(BMP1):c.1868C>T (p.Ala623Val) |
SNV |
Uncertain significance |
910375 |
|
8:22054295-22054295 |
8:22196782-22196782 |
22 |
BMP1 |
NM_006129.5(BMP1):c.2045G>A (p.Arg682His) |
SNV |
Uncertain significance |
910377 |
|
8:22054871-22054871 |
8:22197358-22197358 |
23 |
BMP1 |
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) |
SNV |
Uncertain significance |
911586 |
|
8:22059374-22059374 |
8:22201861-22201861 |
24 |
BMP1 |
NM_006129.5(BMP1):c.2321C>T (p.Thr774Met) |
SNV |
Uncertain significance |
911587 |
|
8:22064454-22064454 |
8:22206941-22206941 |
25 |
BMP1 |
NM_006129.5(BMP1):c.2437G>A (p.Ala813Thr) |
SNV |
Uncertain significance |
908636 |
|
8:22064891-22064891 |
8:22207378-22207378 |
26 |
BMP1 |
NM_006129.5(BMP1):c.2730G>A (p.Glu910=) |
SNV |
Uncertain significance |
909491 |
|
8:22067112-22067112 |
8:22209599-22209599 |
27 |
BMP1 |
NM_006129.5(BMP1):c.2751C>T (p.Cys917=) |
SNV |
Uncertain significance |
909492 |
|
8:22067133-22067133 |
8:22209620-22209620 |
28 |
BMP1 |
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser) |
SNV |
Uncertain significance |
498501 |
rs117159093 |
8:22059342-22059342 |
8:22201829-22201829 |
29 |
BMP1 |
NM_006129.5(BMP1):c.2576-2A>C |
SNV |
Uncertain significance |
632024 |
rs1368161403 |
8:22066956-22066956 |
8:22209443-22209443 |
30 |
BMP1 |
NM_006129.5(BMP1):c.*121C>G |
SNV |
Uncertain significance |
910424 |
|
8:22069362-22069362 |
8:22211849-22211849 |
31 |
BMP1 |
NM_006129.5(BMP1):c.*339T>C |
SNV |
Uncertain significance |
911652 |
|
8:22069580-22069580 |
8:22212067-22212067 |
32 |
BMP1 |
NM_006129.5(BMP1):c.*503G>A |
SNV |
Uncertain significance |
908700 |
|
8:22069744-22069744 |
8:22212231-22212231 |
33 |
BMP1 |
NM_006129.5(BMP1):c.*525G>T |
SNV |
Uncertain significance |
908701 |
|
8:22069766-22069766 |
8:22212253-22212253 |
34 |
BMP1 |
NM_006129.5(BMP1):c.837-5T>C |
SNV |
Uncertain significance |
911525 |
|
8:22037213-22037213 |
8:22179700-22179700 |
35 |
BMP1 |
NM_006129.5(BMP1):c.1639+5C>T |
SNV |
Uncertain significance |
909424 |
|
8:22052437-22052437 |
8:22194924-22194924 |
36 |
BMP1 |
NM_006129.5(BMP1):c.1927-13G>A |
SNV |
Uncertain significance |
910376 |
|
8:22054740-22054740 |
8:22197227-22197227 |
37 |
BMP1 |
NM_006129.5(BMP1):c.2575+12G>A |
SNV |
Uncertain significance |
908637 |
|
8:22065041-22065041 |
8:22207528-22207528 |
38 |
BMP1 |
NC_000008.11:g.22212329T>C |
SNV |
Uncertain significance |
908702 |
|
8:22069842-22069842 |
8:22212329-22212329 |
39 |
BMP1 |
NM_006129.5(BMP1):c.2430G>T (p.Gly810=) |
SNV |
Uncertain significance |
362596 |
rs374092044 |
8:22064884-22064884 |
8:22207371-22207371 |
40 |
BMP1 |
NM_006129.5(BMP1):c.2445C>T (p.Ala815=) |
SNV |
Uncertain significance |
362597 |
rs200867122 |
8:22064899-22064899 |
8:22207386-22207386 |
41 |
BMP1 |
NM_006129.5(BMP1):c.1519G>A (p.Gly507Arg) |
SNV |
Uncertain significance |
362584 |
rs768570264 |
8:22052312-22052312 |
8:22194799-22194799 |
42 |
BMP1 |
NM_006129.5(BMP1):c.1623C>T (p.Ala541=) |
SNV |
Uncertain significance |
362585 |
rs181639729 |
8:22052416-22052416 |
8:22194903-22194903 |
43 |
BMP1 |
NM_006129.5(BMP1):c.1684C>T (p.Arg562Trp) |
SNV |
Uncertain significance |
362587 |
rs775940520 |
8:22053019-22053019 |
8:22195506-22195506 |
44 |
BMP1 |
NM_006129.5(BMP1):c.1317G>A (p.Val439=) |
SNV |
Uncertain significance |
362582 |
rs373100053 |
8:22051977-22051977 |
8:22194464-22194464 |
45 |
BMP1 |
NM_006129.5(BMP1):c.402C>T (p.Val134=) |
SNV |
Uncertain significance |
362577 |
rs773025752 |
8:22033795-22033795 |
8:22176282-22176282 |
46 |
BMP1 |
NM_006129.5(BMP1):c.1624G>A (p.Val542Ile) |
SNV |
Uncertain significance |
362586 |
rs753963317 |
8:22052417-22052417 |
8:22194904-22194904 |
47 |
BMP1 |
NM_006129.5(BMP1):c.2429G>A (p.Gly810Glu) |
SNV |
Uncertain significance |
362595 |
rs886062819 |
8:22064883-22064883 |
8:22207370-22207370 |
48 |
BMP1 |
NM_006129.5(BMP1):c.2622C>T (p.Tyr874=) |
SNV |
Uncertain significance |
362601 |
rs886062820 |
8:22067004-22067004 |
8:22209491-22209491 |
49 |
BMP1 |
NM_006129.5(BMP1):c.2803C>T (p.Leu935=) |
SNV |
Uncertain significance |
362605 |
rs886062821 |
8:22067185-22067185 |
8:22209672-22209672 |
50 |
BMP1 |
NM_006129.5(BMP1):c.1178G>A (p.Arg393Gln) |
SNV |
Uncertain significance |
362581 |
rs772355766 |
8:22049662-22049662 |
8:22192149-22192149 |