1 |
GLDN |
NM_181789.4(GLDN):c.1435C>T (p.Arg479Ter) |
SNV |
Pathogenic
|
268109 |
rs368085516 |
GRCh37: 15:51696730-51696730 GRCh38: 15:51404533-51404533 |
2 |
GLDN |
NM_181789.4(GLDN):c.758del (p.Pro253fs) |
DEL |
Pathogenic
|
268104 |
rs886041056 |
GRCh37: 15:51689732-51689732 GRCh38: 15:51397535-51397535 |
3 |
GLDN |
NM_181789.4(GLDN):c.1240C>T (p.Arg414Ter) |
SNV |
Pathogenic
|
268107 |
rs539703340 |
GRCh37: 15:51696535-51696535 GRCh38: 15:51404338-51404338 |
4 |
GLDN |
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter) |
SNV |
Pathogenic
|
488521 |
rs775011495 |
GRCh37: 15:51696600-51696600 GRCh38: 15:51404403-51404403 |
5 |
GLDN |
NM_181789.4(GLDN):c.541+1G>A |
SNV |
Pathogenic
|
268108 |
rs886041057 |
GRCh37: 15:51676090-51676090 GRCh38: 15:51383893-51383893 |
6 |
GLDN |
NM_181789.4(GLDN):c.980_981del (p.Ser327fs) |
DEL |
Pathogenic
|
870381 |
rs755420151 |
GRCh37: 15:51692647-51692648 GRCh38: 15:51400450-51400451 |
7 |
GLDN |
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro) |
SNV |
Likely Pathogenic
|
1175345 |
|
GRCh37: 15:51633963-51633963 GRCh38: 15:51341766-51341766 |
8 |
GLDN |
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) |
SNV |
Likely Pathogenic
|
692276 |
rs147954907 |
GRCh37: 15:51693940-51693940 GRCh38: 15:51401743-51401743 |
9 |
GLDN |
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu) |
SNV |
Likely Pathogenic
|
268106 |
rs779432560 |
GRCh37: 15:51633976-51633976 GRCh38: 15:51341779-51341779 |
10 |
GLDN |
NM_181789.4(GLDN):c.689-2A>C |
SNV |
Likely Pathogenic
|
712166 |
rs149543159 |
GRCh37: 15:51689665-51689665 GRCh38: 15:51397468-51397468 |
11 |
GLDN |
NM_181789.4(GLDN):c.1423G>C (p.Ala475Pro) |
SNV |
Likely Pathogenic
|
268105 |
rs764239923 |
GRCh37: 15:51696718-51696718 GRCh38: 15:51404521-51404521 |
12 |
GLDN |
NM_181789.4(GLDN):c.86T>C (p.Leu29Pro) |
SNV |
Likely Pathogenic
|
807423 |
rs1595795343 |
GRCh37: 15:51633967-51633967 GRCh38: 15:51341770-51341770 |
13 |
GLDN |
NM_181789.4(GLDN):c.59T>C (p.Leu20Pro) |
SNV |
Likely Pathogenic
|
813924 |
rs1595795307 |
GRCh37: 15:51633940-51633940 GRCh38: 15:51341743-51341743 |
14 |
GLDN |
NM_181789.4(GLDN):c.385_392del (p.Cys129fs) |
DEL |
Likely Pathogenic
|
916579 |
rs2037658180 |
GRCh37: 15:51669666-51669673 GRCh38: 15:51377469-51377476 |
15 |
GLDN |
NM_181789.4(GLDN):c.1028-2A>T |
SNV |
Likely Pathogenic
|
974889 |
rs2038250738 |
GRCh37: 15:51693788-51693788 GRCh38: 15:51401591-51401591 |
16 |
GLDN |
NM_181789.4(GLDN):c.314G>A (p.Arg105His) |
SNV |
Uncertain Significance
|
1027905 |
rs764097726 |
GRCh37: 15:51634195-51634195 GRCh38: 15:51341998-51341998 |
17 |
GLDN |
NM_181789.4(GLDN):c.363+1G>A |
SNV |
Uncertain Significance
|
813925 |
rs556661550 |
GRCh37: 15:51634245-51634245 GRCh38: 15:51342048-51342048 |
18 |
GLDN |
NM_181789.4(GLDN):c.794G>A (p.Ser265Asn) |
SNV |
Benign
|
1285294 |
|
GRCh37: 15:51689772-51689772 GRCh38: 15:51397575-51397575 |