1 |
RPS7 |
NM_001011.4(RPS7):c.76-1G>T |
SNV |
Pathogenic
|
372193 |
rs1057519624 |
GRCh37: 2:3623406-3623406 GRCh38: 2:3575816-3575816 |
2 |
RPS7 |
NM_001011.4(RPS7):c.-19+1G>A |
SNV |
Pathogenic
|
975849 |
rs1064796859 |
GRCh37: 2:3622941-3622941 GRCh38: 2:3575351-3575351 |
3 |
RPS7 |
NM_001011.4(RPS7):c.147+1G>A |
SNV |
Pathogenic
|
6150 |
rs397507554 |
GRCh37: 2:3623479-3623479 GRCh38: 2:3575889-3575889 |
4 |
RPS7 |
NM_001011.4(RPS7):c.75+1G>A |
SNV |
Pathogenic
|
1031721 |
rs1661257691 |
GRCh37: 2:3623275-3623275 GRCh38: 2:3575685-3575685 |
5 |
RPS7 |
NM_001011.4(RPS7):c.508-3T>G |
SNV |
Likely Pathogenic
|
692152 |
rs1572360944 |
GRCh37: 2:3628392-3628392 GRCh38: 2:3580802-3580802 |
6 |
RPS7 |
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) |
SNV |
Uncertain Significance
|
579378 |
rs1558474062 |
GRCh37: 2:3628405-3628405 GRCh38: 2:3580815-3580815 |
7 |
RPS7 |
NM_001011.4(RPS7):c.-3G>A |
SNV |
Uncertain Significance
|
1028444 |
rs751847851 |
GRCh37: 2:3623197-3623197 GRCh38: 2:3575607-3575607 |
8 |
RPS7 |
NM_001011.4(RPS7):c.34A>C (p.Asn12His) |
SNV |
Uncertain Significance
|
955608 |
rs1661257045 |
GRCh37: 2:3623233-3623233 GRCh38: 2:3575643-3575643 |
9 |
RPS7 |
NM_001011.4(RPS7):c.580T>C (p.Leu194=) |
SNV |
Uncertain Significance
|
897960 |
rs1480952113 |
GRCh37: 2:3628467-3628467 GRCh38: 2:3580877-3580877 |
10 |
RPS7 |
NM_001011.4(RPS7):c.66C>T (p.Gly22=) |
SNV |
Uncertain Significance
|
1490897 |
|
GRCh37: 2:3623265-3623265 GRCh38: 2:3575675-3575675 |
11 |
RPS7 |
NM_001011.4(RPS7):c.455G>C (p.Arg152Pro) |
SNV |
Uncertain Significance
|
1492775 |
|
GRCh37: 2:3627798-3627798 GRCh38: 2:3580208-3580208 |
12 |
RPS7 |
NM_001011.4(RPS7):c.311C>T (p.Pro104Leu) |
SNV |
Uncertain Significance
|
1433829 |
|
GRCh37: 2:3625319-3625319 GRCh38: 2:3577729-3577729 |
13 |
RPS7 |
NM_001011.4(RPS7):c.77C>T (p.Ala26Val) |
SNV |
Uncertain Significance
|
1401513 |
|
GRCh37: 2:3623408-3623408 GRCh38: 2:3575818-3575818 |
14 |
RPS7 |
NM_001011.4(RPS7):c.508-12_508-9del |
MICROSAT |
Uncertain Significance
|
1374483 |
|
GRCh37: 2:3628377-3628380 GRCh38: 2:3580787-3580790 |
15 |
RPS7 |
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys) |
SNV |
Uncertain Significance
|
577746 |
rs200400906 |
GRCh37: 2:3627776-3627776 GRCh38: 2:3580186-3580186 |
16 |
RPS7 |
NM_001011.4(RPS7):c.333A>C (p.Lys111Asn) |
SNV |
Uncertain Significance
|
1720274 |
|
GRCh37: 2:3625341-3625341 GRCh38: 2:3577751-3577751 |
17 |
RPS7 |
NM_001011.4(RPS7):c.539T>A (p.Leu180His) |
SNV |
Uncertain Significance
|
440245 |
rs1553343210 |
GRCh37: 2:3628426-3628426 GRCh38: 2:3580836-3580836 |
18 |
RPS7 |
NM_001011.4(RPS7):c.274GTC[1] (p.Val93del) |
MICROSAT |
Uncertain Significance
|
537186 |
rs1553342919 |
GRCh37: 2:3624203-3624205 GRCh38: 2:3576613-3576615 |
19 |
RPS7 |
NM_001011.4(RPS7):c.-27C>T |
SNV |
Uncertain Significance
|
335898 |
rs573443780 |
GRCh37: 2:3622932-3622932 GRCh38: 2:3575342-3575342 |
20 |
RPS7 |
NM_001011.4(RPS7):c.-13C>T |
SNV |
Uncertain Significance
|
335901 |
rs765604580 |
GRCh37: 2:3623187-3623187 GRCh38: 2:3575597-3575597 |
21 |
RPS7 |
NM_001011.4(RPS7):c.-44C>T |
SNV |
Uncertain Significance
|
335896 |
rs563293592 |
GRCh37: 2:3622915-3622915 GRCh38: 2:3575325-3575325 |
22 |
RPS7 |
NM_001011.4(RPS7):c.-23G>A |
SNV |
Uncertain Significance
|
335899 |
rs886055985 |
GRCh37: 2:3622936-3622936 GRCh38: 2:3575346-3575346 |
23 |
RPS7 |
NM_001011.4(RPS7):c.-86C>T |
SNV |
Uncertain Significance
|
335894 |
rs186304514 |
GRCh37: 2:3622873-3622873 GRCh38: 2:3575283-3575283 |
24 |
RPS7 |
NC_000002.11:g.(?_3622941)_(3628472_?)dup |
DUP |
Uncertain Significance
|
1014731 |
|
GRCh37: 2:3622941-3628472 GRCh38: |
25 |
RPS7 |
NM_001011.4(RPS7):c.169C>T (p.Arg57Trp) |
SNV |
Uncertain Significance
|
1379713 |
|
GRCh37: 2:3624098-3624098 GRCh38: 2:3576508-3576508 |
26 |
RPS7 |
NM_001011.4(RPS7):c.521C>G (p.Ser174Cys) |
SNV |
Uncertain Significance
|
1443846 |
|
GRCh37: 2:3628408-3628408 GRCh38: 2:3580818-3580818 |
27 |
RPS7 |
NM_001011.4(RPS7):c.356+6T>C |
SNV |
Uncertain Significance
|
1447145 |
|
GRCh37: 2:3625370-3625370 GRCh38: 2:3577780-3577780 |
28 |
RPS7 |
NM_001011.4(RPS7):c.147+6C>T |
SNV |
Uncertain Significance
|
1447728 |
|
GRCh37: 2:3623484-3623484 GRCh38: 2:3575894-3575894 |
29 |
RPS7 |
NM_001011.4(RPS7):c.14G>A (p.Ser5Asn) |
SNV |
Uncertain Significance
|
1485908 |
|
GRCh37: 2:3623213-3623213 GRCh38: 2:3575623-3575623 |
30 |
RPS7 |
NM_001011.4(RPS7):c.356+3G>A |
SNV |
Uncertain Significance
|
1024764 |
rs1161877660 |
GRCh37: 2:3625367-3625367 GRCh38: 2:3577777-3577777 |
31 |
RPS7 |
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) |
SNV |
Uncertain Significance
|
638493 |
rs1572360947 |
GRCh37: 2:3628406-3628406 GRCh38: 2:3580816-3580816 |
32 |
RPS7 |
NM_001011.4(RPS7):c.133A>G (p.Ile45Val) |
SNV |
Uncertain Significance
|
962784 |
rs1661264441 |
GRCh37: 2:3623464-3623464 GRCh38: 2:3575874-3575874 |
33 |
RPS7 |
NM_001011.4(RPS7):c.35A>G (p.Asn12Ser) |
SNV |
Uncertain Significance
|
998359 |
rs779623517 |
GRCh37: 2:3623234-3623234 GRCh38: 2:3575644-3575644 |
34 |
RPS7 |
NM_001011.4(RPS7):c.520T>G (p.Ser174Ala) |
SNV |
Uncertain Significance
|
1050877 |
|
GRCh37: 2:3628407-3628407 GRCh38: 2:3580817-3580817 |
35 |
RPS7 |
NM_001011.4(RPS7):c.39C>T (p.Gly13=) |
SNV |
Uncertain Significance
|
335902 |
rs746686516 |
GRCh37: 2:3623238-3623238 GRCh38: 2:3575648-3575648 |
36 |
RPS7 |
NM_001011.4(RPS7):c.406C>G (p.Pro136Ala) |
SNV |
Uncertain Significance
|
855605 |
rs1661370560 |
GRCh37: 2:3627749-3627749 GRCh38: 2:3580159-3580159 |
37 |
RPS7 |
NM_001011.4(RPS7):c.137C>T (p.Thr46Met) |
SNV |
Uncertain Significance
|
942955 |
rs1006838420 |
GRCh37: 2:3623468-3623468 GRCh38: 2:3575878-3575878 |
38 |
RPS7 |
NM_001011.4(RPS7):c.113C>T (p.Ala38Val) |
SNV |
Uncertain Significance
|
1037436 |
rs929660330 |
GRCh37: 2:3623444-3623444 GRCh38: 2:3575854-3575854 |
39 |
RPS7 |
NM_001011.4(RPS7):c.157G>A (p.Val53Ile) |
SNV |
Uncertain Significance
|
1040145 |
rs144178741 |
GRCh37: 2:3624086-3624086 GRCh38: 2:3576496-3576496 |
40 |
RPS7 |
NM_001011.4(RPS7):c.357-3del |
DEL |
Uncertain Significance
|
1064152 |
|
GRCh37: 2:3627694-3627694 GRCh38: 2:3580104-3580104 |
41 |
RPS7 |
NM_001011.4(RPS7):c.31C>T (p.Pro11Ser) |
SNV |
Uncertain Significance
|
1368521 |
|
GRCh37: 2:3623230-3623230 GRCh38: 2:3575640-3575640 |
42 |
RPS7 |
NM_001011.4(RPS7):c.436G>A (p.Val146Ile) |
SNV |
Uncertain Significance
|
1357068 |
|
GRCh37: 2:3627779-3627779 GRCh38: 2:3580189-3580189 |
43 |
RPS7 |
NM_001011.4(RPS7):c.79C>T (p.Leu27Phe) |
SNV |
Uncertain Significance
|
1383790 |
|
GRCh37: 2:3623410-3623410 GRCh38: 2:3575820-3575820 |
44 |
RPS7 |
NM_001011.4(RPS7):c.277G>A (p.Val93Ile) |
SNV |
Uncertain Significance
|
1358472 |
|
GRCh37: 2:3624206-3624206 GRCh38: 2:3576616-3576616 |
45 |
RPS7 |
NM_001011.4(RPS7):c.452G>T (p.Ser151Ile) |
SNV |
Uncertain Significance
|
1418182 |
|
GRCh37: 2:3627795-3627795 GRCh38: 2:3580205-3580205 |
46 |
RPS7 |
NM_001011.4(RPS7):c.263G>T (p.Ser88Ile) |
SNV |
Uncertain Significance
|
1496140 |
|
GRCh37: 2:3624192-3624192 GRCh38: 2:3576602-3576602 |
47 |
RPS7 |
NM_001011.4(RPS7):c.156A>C (p.Glu52Asp) |
SNV |
Uncertain Significance
|
1525582 |
|
GRCh37: 2:3624085-3624085 GRCh38: 2:3576495-3576495 |
48 |
RPS7 |
NM_001011.4(RPS7):c.543G>A (p.Thr181=) |
SNV |
Likely Benign
|
1102982 |
|
GRCh37: 2:3628430-3628430 GRCh38: 2:3580840-3580840 |
49 |
RPS7 |
NM_001011.4(RPS7):c.519T>C (p.Phe173=) |
SNV |
Likely Benign
|
1112689 |
|
GRCh37: 2:3628406-3628406 GRCh38: 2:3580816-3580816 |
50 |
RPS7 |
NM_001011.4(RPS7):c.292-9A>T |
SNV |
Likely Benign
|
335904 |
rs746941533 |
GRCh37: 2:3625291-3625291 GRCh38: 2:3577701-3577701 |