1 |
B3GALT6 |
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) |
SNV |
Pathogenic
|
60484 |
rs786200938 |
GRCh37: 1:1167659-1167659 GRCh38: 1:1232279-1232279 |
2 |
B3GALT6 |
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) |
SNV |
Pathogenic
|
60489 |
rs397514720 |
GRCh37: 1:1167858-1167858 GRCh38: 1:1232478-1232478 |
3 |
B3GALT6 |
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr) |
SNV |
Pathogenic
|
1452181 |
|
GRCh37: 1:1167660-1167660 GRCh38: 1:1232280-1232280 |
4 |
B3GALT6 |
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys) |
SNV |
Likely Pathogenic
|
1067539 |
|
GRCh37: 1:1167660-1167660 GRCh38: 1:1232280-1232280 |
5 |
B3GALT6 |
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) |
SNV |
Uncertain Significance
|
1520788 |
|
GRCh37: 1:1168541-1168541 GRCh38: 1:1233161-1233161 |
6 |
B3GALT6 |
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) |
DUP |
Uncertain Significance
|
427130 |
rs533071750 |
GRCh37: 1:1168239-1168240 GRCh38: 1:1232859-1232860 |
7 |
B3GALT6 |
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) |
SNV |
Uncertain Significance
|
624636 |
rs1314046622 |
GRCh37: 1:1168203-1168203 GRCh38: 1:1232823-1232823 |
8 |
B3GALT6 |
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) |
MICROSAT |
Uncertain Significance
|
421834 |
rs755700896 |
GRCh37: 1:1168012-1168013 GRCh38: 1:1232632-1232633 |
9 |
B3GALT6 |
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) |
SNV |
Uncertain Significance
|
453100 |
rs759357299 |
GRCh37: 1:1168476-1168476 GRCh38: 1:1233096-1233096 |
10 |
B3GALT6 |
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) |
SNV |
Uncertain Significance
|
387709 |
rs1057522880 |
GRCh37: 1:1168025-1168025 GRCh38: 1:1232645-1232645 |
11 |
B3GALT6 |
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) |
SNV |
Uncertain Significance
|
1211943 |
|
GRCh37: 1:1168241-1168241 GRCh38: 1:1232861-1232861 |
12 |
B3GALT6 |
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) |
SNV |
Uncertain Significance
|
1356369 |
|
GRCh37: 1:1168473-1168473 GRCh38: 1:1233093-1233093 |
13 |
B3GALT6 |
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) |
SNV |
Uncertain Significance
|
985304 |
rs1638553187 |
GRCh37: 1:1168116-1168116 GRCh38: 1:1232736-1232736 |
14 |
B3GALT6 |
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) |
SNV |
Uncertain Significance
|
1204929 |
|
GRCh37: 1:1167931-1167931 GRCh38: 1:1232551-1232551 |
15 |
B3GALT6 |
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) |
SNV |
Uncertain Significance
|
1382663 |
|
GRCh37: 1:1168012-1168012 GRCh38: 1:1232632-1232632 |
16 |
B3GALT6 |
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) |
SNV |
Uncertain Significance
|
1362087 |
|
GRCh37: 1:1167886-1167886 GRCh38: 1:1232506-1232506 |
17 |
B3GALT6 |
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) |
SNV |
Uncertain Significance
|
1419814 |
|
GRCh37: 1:1167806-1167806 GRCh38: 1:1232426-1232426 |
18 |
overlap with 76 genes |
NC_000001.10:g.(?_861322)_(3768971_?)del |
DEL |
Uncertain Significance
|
1412663 |
|
GRCh37: 1:861322-3768971 GRCh38: |
19 |
B3GALT6 |
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) |
SNV |
Uncertain Significance
|
1425625 |
|
GRCh37: 1:1168491-1168491 GRCh38: 1:1233111-1233111 |
20 |
B3GALT6 |
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) |
SNV |
Uncertain Significance
|
1434609 |
|
GRCh37: 1:1167818-1167818 GRCh38: 1:1232438-1232438 |
21 |
B3GALT6 |
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) |
SNV |
Uncertain Significance
|
1427535 |
|
GRCh37: 1:1168005-1168005 GRCh38: 1:1232625-1232625 |
22 |
B3GALT6 |
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) |
DUP |
Uncertain Significance
|
1461952 |
|
GRCh37: 1:1167802-1167803 GRCh38: 1:1232422-1232423 |
23 |
B3GALT6 |
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) |
SNV |
Uncertain Significance
|
1431232 |
|
GRCh37: 1:1167852-1167852 GRCh38: 1:1232472-1232472 |
24 |
B3GALT6 |
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) |
MICROSAT |
Uncertain Significance
|
1472063 |
|
GRCh37: 1:1168186-1168187 GRCh38: 1:1232806-1232807 |
25 |
B3GALT6 |
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) |
SNV |
Uncertain Significance
|
1475774 |
|
GRCh37: 1:1168514-1168514 GRCh38: 1:1233134-1233134 |
26 |
B3GALT6 |
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) |
SNV |
Uncertain Significance
|
1476389 |
|
GRCh37: 1:1168239-1168239 GRCh38: 1:1232859-1232859 |
27 |
B3GALT6 |
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) |
SNV |
Uncertain Significance
|
1484075 |
|
GRCh37: 1:1168281-1168281 GRCh38: 1:1232901-1232901 |
28 |
B3GALT6 |
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) |
SNV |
Uncertain Significance
|
1507860 |
|
GRCh37: 1:1168529-1168529 GRCh38: 1:1233149-1233149 |
29 |
B3GALT6 |
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) |
DEL |
Uncertain Significance
|
1498946 |
rs778123798 |
GRCh37: 1:1168168-1168175 GRCh38: 1:1232788-1232795 |
30 |
B3GALT6 |
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) |
SNV |
Uncertain Significance
|
281706 |
rs778444849 |
GRCh37: 1:1168245-1168245 GRCh38: 1:1232865-1232865 |
31 |
B3GALT6 |
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) |
SNV |
Uncertain Significance
|
1208606 |
|
GRCh37: 1:1168553-1168553 GRCh38: 1:1233173-1233173 |
32 |
B3GALT6 |
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) |
SNV |
Uncertain Significance
|
986387 |
rs1638552845 |
GRCh37: 1:1168105-1168105 GRCh38: 1:1232725-1232725 |
33 |
B3GALT6 |
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) |
SNV |
Uncertain Significance
|
1387107 |
|
GRCh37: 1:1168304-1168304 GRCh38: 1:1232924-1232924 |
34 |
B3GALT6 |
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) |
SNV |
Uncertain Significance
|
1397919 |
|
GRCh37: 1:1168179-1168179 GRCh38: 1:1232799-1232799 |
35 |
B3GALT6 |
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) |
DUP |
Uncertain Significance
|
1358020 |
|
GRCh37: 1:1167871-1167872 GRCh38: 1:1232491-1232492 |
36 |
B3GALT6 |
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) |
SNV |
Uncertain Significance
|
1371061 |
|
GRCh37: 1:1168122-1168122 GRCh38: 1:1232742-1232742 |
37 |
B3GALT6 |
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) |
SNV |
Uncertain Significance
|
1404166 |
|
GRCh37: 1:1168161-1168161 GRCh38: 1:1232781-1232781 |
38 |
B3GALT6 |
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) |
DUP |
Uncertain Significance
|
1362915 |
|
GRCh37: 1:1167927-1167928 GRCh38: 1:1232547-1232548 |
39 |
B3GALT6 |
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) |
SNV |
Uncertain Significance
|
1363546 |
|
GRCh37: 1:1168169-1168169 GRCh38: 1:1232789-1232789 |
40 |
B3GALT6 |
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) |
SNV |
Uncertain Significance
|
1398493 |
|
GRCh37: 1:1168542-1168542 GRCh38: 1:1233162-1233162 |
41 |
B3GALT6 |
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) |
SNV |
Uncertain Significance
|
1425377 |
|
GRCh37: 1:1167836-1167836 GRCh38: 1:1232456-1232456 |
42 |
B3GALT6 |
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) |
SNV |
Uncertain Significance
|
1423921 |
|
GRCh37: 1:1167803-1167803 GRCh38: 1:1232423-1232423 |
43 |
B3GALT6 |
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) |
SNV |
Uncertain Significance
|
1439809 |
|
GRCh37: 1:1168487-1168487 GRCh38: 1:1233107-1233107 |
44 |
B3GALT6 |
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) |
DUP |
Uncertain Significance
|
1432546 |
|
GRCh37: 1:1168146-1168147 GRCh38: 1:1232766-1232767 |
45 |
B3GALT6 |
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) |
SNV |
Uncertain Significance
|
1425911 |
|
GRCh37: 1:1168461-1168461 GRCh38: 1:1233081-1233081 |
46 |
B3GALT6 |
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) |
SNV |
Uncertain Significance
|
1464788 |
|
GRCh37: 1:1167821-1167821 GRCh38: 1:1232441-1232441 |
47 |
B3GALT6 |
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) |
SNV |
Uncertain Significance
|
1438621 |
|
GRCh37: 1:1167767-1167767 GRCh38: 1:1232387-1232387 |
48 |
B3GALT6 |
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) |
MICROSAT |
Uncertain Significance
|
1461477 |
|
GRCh37: 1:1167683-1167684 GRCh38: 1:1232303-1232304 |
49 |
B3GALT6 |
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) |
DUP |
Uncertain Significance
|
1473227 |
|
GRCh37: 1:1167680-1167681 GRCh38: 1:1232300-1232301 |
50 |
B3GALT6 |
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) |
SNV |
Uncertain Significance
|
1488768 |
|
GRCh37: 1:1168047-1168047 GRCh38: 1:1232667-1232667 |