1 |
SOST |
NM_025237.3(SOST):c.70C>T (p.Gln24Ter) |
SNV |
Pathogenic
|
4783 |
rs387906320 |
GRCh37: 17:41836040-41836040 GRCh38: 17:43758672-43758672 |
2 |
SOST |
NM_025237.3(SOST):c.220+3A>T |
SNV |
Pathogenic
|
4784 |
|
GRCh37: 17:41835887-41835887 GRCh38: 17:43758519-43758519 |
3 |
SOST |
NM_025237.3(SOST):c.372G>A (p.Trp124Ter) |
SNV |
Pathogenic
|
4785 |
rs104894644 |
GRCh37: 17:41832980-41832980 GRCh38: 17:43755612-43755612 |
4 |
SOST |
NM_025237.3(SOST):c.376C>T (p.Arg126Ter) |
SNV |
Pathogenic
|
4786 |
rs104894645 |
GRCh37: 17:41832976-41832976 GRCh38: 17:43755608-43755608 |
5 |
SOST |
NM_025237.3(SOST):c.87dup (p.Lys30fs) |
DUP |
Pathogenic
|
1342991 |
|
GRCh37: 17:41836022-41836023 GRCh38: 17:43758654-43758655 |
6 |
SOST |
NM_025237.3(SOST):c.177G>A (p.Ala59=) |
SNV |
Uncertain Significance
|
764169 |
rs201706408 |
GRCh37: 17:41835933-41835933 GRCh38: 17:43758565-43758565 |
7 |
SOST |
NM_025237.3(SOST):c.*219T>C |
SNV |
Uncertain Significance
|
892298 |
rs1017350702 |
GRCh37: 17:41832491-41832491 GRCh38: 17:43755123-43755123 |
8 |
SOST |
NM_025237.3(SOST):c.*203G>A |
SNV |
Uncertain Significance
|
892299 |
rs753407763 |
GRCh37: 17:41832507-41832507 GRCh38: 17:43755139-43755139 |
9 |
SOST |
NM_025237.3(SOST):c.*1363C>T |
SNV |
Uncertain Significance
|
890524 |
rs918885949 |
GRCh37: 17:41831347-41831347 GRCh38: 17:43753979-43753979 |
10 |
SOST |
NM_025237.3(SOST):c.*1267C>G |
SNV |
Uncertain Significance
|
890525 |
rs76802447 |
GRCh37: 17:41831443-41831443 GRCh38: 17:43754075-43754075 |
11 |
SOST |
NM_025237.3(SOST):c.*1063C>T |
SNV |
Uncertain Significance
|
890526 |
rs1352568425 |
GRCh37: 17:41831647-41831647 GRCh38: 17:43754279-43754279 |
12 |
SOST |
NM_025237.3(SOST):c.*902T>C |
SNV |
Uncertain Significance
|
891082 |
rs531006039 |
GRCh37: 17:41831808-41831808 GRCh38: 17:43754440-43754440 |
13 |
SOST |
NM_025237.3(SOST):c.*883A>T |
SNV |
Uncertain Significance
|
891083 |
rs1974104389 |
GRCh37: 17:41831827-41831827 GRCh38: 17:43754459-43754459 |
14 |
SOST |
NM_025237.3(SOST):c.*689T>C |
SNV |
Uncertain Significance
|
891084 |
rs1470510281 |
GRCh37: 17:41832021-41832021 GRCh38: 17:43754653-43754653 |
15 |
SOST |
NM_025237.3(SOST):c.*666T>C |
SNV |
Uncertain Significance
|
891085 |
rs538476059 |
GRCh37: 17:41832044-41832044 GRCh38: 17:43754676-43754676 |
16 |
SOST |
NM_025237.3(SOST):c.*569G>T |
SNV |
Uncertain Significance
|
891086 |
rs1974108139 |
GRCh37: 17:41832141-41832141 GRCh38: 17:43754773-43754773 |
17 |
SOST |
NM_025237.3(SOST):c.461C>T (p.Pro154Leu) |
SNV |
Uncertain Significance
|
323438 |
rs760883576 |
GRCh37: 17:41832891-41832891 GRCh38: 17:43755523-43755523 |
18 |
SOST |
NM_025237.3(SOST):c.*1529T>C |
SNV |
Uncertain Significance
|
323425 |
rs182899606 |
GRCh37: 17:41831181-41831181 GRCh38: 17:43753813-43753813 |
19 |
SOST |
NM_025237.3(SOST):c.*314C>G |
SNV |
Uncertain Significance
|
323435 |
rs765892196 |
GRCh37: 17:41832396-41832396 GRCh38: 17:43755028-43755028 |
20 |
SOST |
NM_025237.3(SOST):c.*140A>G |
SNV |
Uncertain Significance
|
323436 |
rs886052979 |
GRCh37: 17:41832570-41832570 GRCh38: 17:43755202-43755202 |
21 |
SOST |
NM_025237.3(SOST):c.328G>A (p.Gly110Ser) |
SNV |
Uncertain Significance
|
323439 |
rs886052981 |
GRCh37: 17:41833024-41833024 GRCh38: 17:43755656-43755656 |
22 |
SOST |
NM_025237.3(SOST):c.*1176A>G |
SNV |
Uncertain Significance
|
323431 |
rs886052978 |
GRCh37: 17:41831534-41831534 GRCh38: 17:43754166-43754166 |
23 |
SOST |
NM_025237.3(SOST):c.153G>A (p.Glu51=) |
SNV |
Uncertain Significance
|
323440 |
rs150640883 |
GRCh37: 17:41835957-41835957 GRCh38: 17:43758589-43758589 |
24 |
SOST |
NM_025237.3(SOST):c.533A>G (p.Glu178Gly) |
SNV |
Uncertain Significance
|
323437 |
rs886052980 |
GRCh37: 17:41832819-41832819 GRCh38: 17:43755451-43755451 |
25 |
SOST |
NM_025237.3(SOST):c.*1498G>A |
SNV |
Uncertain Significance
|
888823 |
rs866808140 |
GRCh37: 17:41831212-41831212 GRCh38: 17:43753844-43753844 |
26 |
SOST |
NM_025237.3(SOST):c.448G>A (p.Gly150Ser) |
SNV |
Uncertain Significance
|
888898 |
rs548849329 |
GRCh37: 17:41832904-41832904 GRCh38: 17:43755536-43755536 |
27 |
SOST |
NM_025237.3(SOST):c.303C>T (p.Thr101=) |
SNV |
Uncertain Significance
|
888899 |
rs758794256 |
GRCh37: 17:41833049-41833049 GRCh38: 17:43755681-43755681 |
28 |
SOST |
NM_025237.3(SOST):c.143C>T (p.Pro48Leu) |
SNV |
Uncertain Significance
|
888900 |
rs779039644 |
GRCh37: 17:41835967-41835967 GRCh38: 17:43758599-43758599 |
29 |
SOST |
NM_025237.3(SOST):c.114C>T (p.Pro38=) |
SNV |
Uncertain Significance
|
888901 |
rs750870565 |
GRCh37: 17:41835996-41835996 GRCh38: 17:43758628-43758628 |
30 |
SOST |
NM_025237.3(SOST):c.*1402T>G |
SNV |
Uncertain Significance
|
890522 |
rs1974097858 |
GRCh37: 17:41831308-41831308 GRCh38: 17:43753940-43753940 |
31 |
SOST |
NM_025237.3(SOST):c.*1391G>C |
SNV |
Likely Benign
|
890523 |
rs144304911 |
GRCh37: 17:41831319-41831319 GRCh38: 17:43753951-43753951 |
32 |
SOST |
NM_025237.3(SOST):c.-10G>A |
SNV |
Likely Benign
|
193461 |
rs190743758 |
GRCh37: 17:41836119-41836119 GRCh38: 17:43758751-43758751 |
33 |
SOST |
NM_025237.3(SOST):c.-21T>G |
SNV |
Likely Benign
|
890597 |
rs202008449 |
GRCh37: 17:41836130-41836130 GRCh38: 17:43758762-43758762 |
34 |
SOST |
NM_025237.3(SOST):c.56G>A (p.Arg19His) |
SNV |
Likely Benign
|
890596 |
rs199514554 |
GRCh37: 17:41836054-41836054 GRCh38: 17:43758686-43758686 |
35 |
SOST |
NM_025237.3(SOST):c.*222A>G |
SNV |
Likely Benign
|
892297 |
rs544576964 |
GRCh37: 17:41832488-41832488 GRCh38: 17:43755120-43755120 |
36 |
SOST |
NM_025237.3(SOST):c.*320C>T |
SNV |
Benign
|
892296 |
rs17883310 |
GRCh37: 17:41832390-41832390 GRCh38: 17:43755022-43755022 |
37 |
SOST |
NM_025237.3(SOST):c.*178C>T |
SNV |
Benign
|
892300 |
rs116799821 |
GRCh37: 17:41832532-41832532 GRCh38: 17:43755164-43755164 |
38 |
SOST |
NM_025237.3(SOST):c.28G>A (p.Val10Ile) |
SNV |
Benign
|
323442 |
rs17882143 |
GRCh37: 17:41836082-41836082 GRCh38: 17:43758714-43758714 |
39 |
SOST |
NM_025237.3(SOST):c.*562G>A |
SNV |
Benign
|
323434 |
rs17881518 |
GRCh37: 17:41832148-41832148 GRCh38: 17:43754780-43754780 |
40 |
SOST |
NM_025237.3(SOST):c.*866C>T |
SNV |
Benign
|
323433 |
rs75901553 |
GRCh37: 17:41831844-41831844 GRCh38: 17:43754476-43754476 |
41 |
SOST |
NM_025237.3(SOST):c.*1394C>G |
SNV |
Benign
|
323428 |
rs75335214 |
GRCh37: 17:41831316-41831316 GRCh38: 17:43753948-43753948 |
42 |
SOST |
NM_025237.3(SOST):c.*1004G>A |
SNV |
Benign
|
323432 |
rs17886183 |
GRCh37: 17:41831706-41831706 GRCh38: 17:43754338-43754338 |
43 |
SOST |
NM_025237.3(SOST):c.220+3A>T |
SNV |
Not Provided
|
1327523 |
|
GRCh37: 17:41835887-41835887 GRCh38: 17:43758519-43758519 |
44 |
SOST |
NM_025237.3(SOST):c.69C>T (p.Gly23=) |
SNV |
Not Provided
|
1342988 |
|
GRCh37: 17:41836041-41836041 GRCh38: 17:43758673-43758673 |
45 |
SOST |
NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer) |
INDEL |
Not Provided
|
1342989 |
|
GRCh37: 17:41832907-41832908 GRCh38: 17:43755539-43755540 |
46 |
SOST |
NM_025237.3(SOST):c.79C>T (p.Gln27Ter) |
SNV |
Not Provided
|
1342990 |
|
GRCh37: 17:41836031-41836031 GRCh38: 17:43758663-43758663 |
47 |
SOST |
NM_025237.3(SOST):c.220+1G>C |
SNV |
Not Provided
|
1342992 |
|
GRCh37: 17:41835889-41835889 GRCh38: 17:43758521-43758521 |
48 |
SOST |
NM_025237.3(SOST):c.296dup (p.Val100fs) |
DUP |
Not Provided
|
1342993 |
|
GRCh37: 17:41833055-41833056 GRCh38: 17:43755687-43755688 |
49 |
SOST |
NM_025237.3(SOST):c.371G>A (p.Trp124Ter) |
SNV |
Not Provided
|
1342994 |
|
GRCh37: 17:41832981-41832981 GRCh38: 17:43755613-43755613 |
50 |
SOST |
NM_025237.3(SOST):c.499T>C (p.Cys167Arg) |
SNV |
Not Provided
|
1676279 |
|
GRCh37: 17:41832853-41832853 GRCh38: 17:43755485-43755485 |