1 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.187C>T (p.Arg63Ter) |
SNV |
Pathogenic |
3994 |
rs193919337 |
1:46662690-46662690 |
1:46197018-46197018 |
2 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.643C>T (p.Arg215Ter) |
SNV |
Pathogenic |
56604 |
rs386834034 |
1:46660525-46660525 |
1:46194853-46194853 |
3 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.931C>T (p.Arg311Ter) |
SNV |
Pathogenic |
56610 |
rs386834039 |
1:46659546-46659546 |
1:46193874-46193874 |
4 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.860T>G (p.Ile287Ser) |
SNV |
Pathogenic |
254270 |
rs200863680 |
1:46659965-46659965 |
1:46194293-46194293 |
5 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.466G>A (p.Glu156Lys) |
SNV |
Pathogenic |
254272 |
rs886037947 |
1:46661551-46661551 |
1:46195879-46195879 |
6 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1505G>C (p.Gly502Ala) |
SNV |
Pathogenic |
254274 |
rs886037948 |
1:46657804-46657804 |
1:46192132-46192132 |
7 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.359T>G (p.Leu120Arg) |
SNV |
Pathogenic |
254275 |
rs886037949 |
1:46661745-46661745 |
1:46196073-46196073 |
8 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.636C>T (p.Phe212=) |
SNV |
Pathogenic |
265399 |
rs190057175 |
1:46660532-46660532 |
1:46194860-46194860 |
9 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1539+1G>A |
SNV |
Pathogenic |
56582 |
rs138642840 |
1:46657769-46657769 |
1:46192097-46192097 |
10 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1869+27G>A |
SNV |
Pathogenic |
56592 |
rs386834024 |
1:46655129-46655129 |
1:46189457-46189457 |
11 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1324C>T (p.Arg442Cys) |
SNV |
Pathogenic/Likely pathogenic |
3992 |
rs28940869 |
1:46658069-46658069 |
1:46192397-46192397 |
12 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) |
SNV |
Pathogenic/Likely pathogenic |
4000 |
rs267606960 |
1:46657840-46657840 |
1:46192168-46192168 |
13 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1463G>A (p.Arg488Gln) |
SNV |
Likely pathogenic |
422459 |
rs766382416 |
1:46657846-46657846 |
1:46192174-46192174 |
14 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1285-2A>G |
SNV |
Conflicting interpretations of pathogenicity |
56578 |
rs386834012 |
1:46658110-46658110 |
1:46192438-46192438 |
15 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.839G>A (p.Ser280Asn) |
SNV |
Conflicting interpretations of pathogenicity |
162588 |
rs142485035 |
1:46659986-46659986 |
1:46194314-46194314 |
16 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1869+27G>T |
SNV |
Conflicting interpretations of pathogenicity |
56593 |
rs386834024 |
1:46655129-46655129 |
1:46189457-46189457 |
17 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.319C>A (p.Arg107Ser) |
SNV |
Uncertain significance |
162590 |
rs375420073 |
1:46662438-46662438 |
1:46196766-46196766 |
18 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.355G>A (p.Val119Met) |
SNV |
Uncertain significance |
423754 |
rs148498470 |
1:46661749-46661749 |
1:46196077-46196077 |
19 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1010T>C (p.Ile337Thr) |
SNV |
Uncertain significance |
285192 |
rs138745073 |
1:46659252-46659252 |
1:46193580-46193580 |
20 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.269G>A (p.Arg90His) |
SNV |
Uncertain significance |
290280 |
rs139701867 |
1:46662488-46662488 |
1:46196816-46196816 |
21 |
POMGNT1 |
NM_001243766.1(POMGNT1):c.1456C>G (p.Arg486Gly) |
SNV |
Uncertain significance |
291060 |
rs534543454 |
1:46657853-46657853 |
1:46192181-46192181 |