1 |
PGAP3
|
NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)
|
single nucleotide variant |
Pathogenic |
rs587777251
|
GRCh37 |
Chromosome 17, 37842179: 37842179 |
2 |
PGAP3
|
NM_033419.4(PGAP3): c.275G> A (p.Gly92Asp)
|
single nucleotide variant |
Pathogenic |
rs587777251
|
GRCh38 |
Chromosome 17, 39685926: 39685926 |
3 |
PGAP3
|
NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)
|
single nucleotide variant |
Likely pathogenic |
rs587777252
|
GRCh37 |
Chromosome 17, 37829105: 37829105 |
4 |
PGAP3
|
NM_033419.4(PGAP3): c.914A> G (p.Asp305Gly)
|
single nucleotide variant |
Likely pathogenic |
rs587777252
|
GRCh38 |
Chromosome 17, 39672852: 39672852 |
5 |
PGAP3
|
NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)
|
single nucleotide variant |
Pathogenic |
rs371549948
|
GRCh37 |
Chromosome 17, 37840968: 37840968 |
6 |
PGAP3
|
NM_033419.4(PGAP3): c.314C> G (p.Pro105Arg)
|
single nucleotide variant |
Pathogenic |
rs371549948
|
GRCh38 |
Chromosome 17, 39684715: 39684715 |
7 |
PGAP3
|
NM_033419.4(PGAP3): c.*559C> T
|
single nucleotide variant |
Pathogenic |
rs183208638
|
GRCh37 |
Chromosome 17, 37828497: 37828497 |
8 |
PGAP3
|
NM_033419.4(PGAP3): c.*559C> T
|
single nucleotide variant |
Pathogenic |
rs183208638
|
GRCh38 |
Chromosome 17, 39672244: 39672244 |
9 |
PGAP3
|
NM_033419.4(PGAP3): c.861G> T (p.Trp287Cys)
|
single nucleotide variant |
Pathogenic |
rs869312813
|
GRCh37 |
Chromosome 17, 37829342: 37829342 |
10 |
PGAP3
|
NM_033419.4(PGAP3): c.861G> T (p.Trp287Cys)
|
single nucleotide variant |
Pathogenic |
rs869312813
|
GRCh38 |
Chromosome 17, 39673089: 39673089 |
11 |
PGAP3
|
NM_033419.4(PGAP3): c.845A> G (p.Asp282Gly)
|
single nucleotide variant |
Pathogenic |
rs869312814
|
GRCh37 |
Chromosome 17, 37829358: 37829358 |
12 |
PGAP3
|
NM_033419.4(PGAP3): c.845A> G (p.Asp282Gly)
|
single nucleotide variant |
Pathogenic |
rs869312814
|
GRCh38 |
Chromosome 17, 39673105: 39673105 |
13 |
PGAP3
|
NM_033419.4(PGAP3): c.842T> C (p.Leu281Pro)
|
single nucleotide variant |
Pathogenic |
rs869312817
|
GRCh37 |
Chromosome 17, 37829361: 37829361 |
14 |
PGAP3
|
NM_033419.4(PGAP3): c.842T> C (p.Leu281Pro)
|
single nucleotide variant |
Pathogenic |
rs869312817
|
GRCh38 |
Chromosome 17, 39673108: 39673108 |
15 |
PGAP3
|
NM_033419.4(PGAP3): c.558-10G> A
|
single nucleotide variant |
Likely pathogenic |
rs200598755
|
GRCh37 |
Chromosome 17, 37829913: 37829913 |
16 |
PGAP3
|
NM_033419.4(PGAP3): c.558-10G> A
|
single nucleotide variant |
Likely pathogenic |
rs200598755
|
GRCh38 |
Chromosome 17, 39673660: 39673660 |
17 |
PGAP3
|
NM_033419.4(PGAP3): c.511T> C (p.Cys171Arg)
|
single nucleotide variant |
Pathogenic |
rs869312816
|
GRCh37 |
Chromosome 17, 37830292: 37830292 |
18 |
PGAP3
|
NM_033419.4(PGAP3): c.511T> C (p.Cys171Arg)
|
single nucleotide variant |
Pathogenic |
rs869312816
|
GRCh38 |
Chromosome 17, 39674039: 39674039 |
19 |
PGAP3
|
NM_033419.4(PGAP3): c.439dupC (p.Leu147Profs)
|
duplication |
Pathogenic |
rs869312815
|
GRCh37 |
Chromosome 17, 37830926: 37830926 |
20 |
PGAP3
|
NM_033419.4(PGAP3): c.439dupC (p.Leu147Profs)
|
duplication |
Pathogenic |
rs869312815
|
GRCh38 |
Chromosome 17, 39674673: 39674673 |
21 |
PGAP3
|
NM_033419.4(PGAP3): c.402dupC (p.Met135Hisfs)
|
duplication |
Pathogenic |
rs869312812
|
GRCh38 |
Chromosome 17, 39684627: 39684627 |
22 |
PGAP3
|
NM_033419.4(PGAP3): c.402dupC (p.Met135Hisfs)
|
duplication |
Pathogenic |
rs869312812
|
GRCh37 |
Chromosome 17, 37840880: 37840880 |
23 |
PGAP3
|
NM_033419.4(PGAP3): c.320C> T (p.Ser107Leu)
|
single nucleotide variant |
Uncertain significance |
rs202146344
|
GRCh37 |
Chromosome 17, 37840962: 37840962 |
24 |
PGAP3
|
NM_033419.4(PGAP3): c.320C> T (p.Ser107Leu)
|
single nucleotide variant |
Uncertain significance |
rs202146344
|
GRCh38 |
Chromosome 17, 39684709: 39684709 |
25 |
PGAP3
|
NM_033419.4(PGAP3): c.280delT (p.Trp94Glyfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 17, 37841002: 37841002 |
26 |
PGAP3
|
NM_033419.4(PGAP3): c.280delT (p.Trp94Glyfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 17, 39684749: 39684749 |
27 |
PGAP3
|
NM_033419.4(PGAP3): c.507C> A (p.Tyr169Ter)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 17, 39674043: 39674043 |
28 |
PGAP3
|
NM_033419.4(PGAP3): c.507C> A (p.Tyr169Ter)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 17, 37830296: 37830296 |
29 |
PGAP3
|
NM_033419.4(PGAP3): c.432+1G> A
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 17, 37840849: 37840849 |
30 |
PGAP3
|
NM_033419.4(PGAP3): c.432+1G> A
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 17, 39684596: 39684596 |
31 |
PGAP3
|
NM_033419.4(PGAP3): c.209A> T (p.Tyr70Phe)
|
single nucleotide variant |
Uncertain significance |
rs146132289
|
GRCh38 |
Chromosome 17, 39685992: 39685992 |
32 |
PGAP3
|
NM_033419.4(PGAP3): c.209A> T (p.Tyr70Phe)
|
single nucleotide variant |
Uncertain significance |
rs146132289
|
GRCh37 |
Chromosome 17, 37842245: 37842245 |