Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 3017 | chr3 | 52407397 | AC | A |
c.437+1del
-
|
p.?
-
|
- | 4.0 |
|
B | |
| 34978 | chr3 | 52407426 | A | T |
c.410T>A
-
|
p.Leu137Ter
-
|
- | 4.0 |
|
B | |
| 10368 | chr3 | 52407430 | C | A |
c.406G>T
-
|
p.Glu136Ter
-
|
- | 4.0 |
|
B | |
| 23872 | chr3 | 52407464 | CGGGGAAGAAAATAAGGCCGTATCA | C |
c.376-28_376-5del
-
|
-
-
|
- | 3.5 |
|
B | |
| 28353 | chr3 | 52407958 | C | T |
c.375G>A
-
|
p.Glu125=
-
|
- | 3.5 |
|
B | |
| 3209 | chr3 | 52407989 | A | AT |
c.343dup
-
|
p.Met115AsnfsTer11
-
|
- | 4.0 |
|
B | |
| 19046 | chr3 | 52407992 | C | T |
c.341G>A
-
|
p.Arg114His
-
|
2.5 |
|
B | ||
| 29189 | chr3 | 52408027 | G | T |
c.306C>A
-
|
p.Asn102Lys
-
|
- | 3.0 |
|
B | |
| 18963 | chr3 | 52408037 | A | T |
c.296T>A
-
|
p.Val99Glu
-
|
- | 3.5 |
|
B | |
| 33566 | chr3 | 52408038 | C | T |
c.295G>A
-
|
p.Val99Met
-
|
3.0 |
|
B | ||
| 13363 | chr3 | 52408043 | A | T |
c.290T>A
-
|
p.Leu97Gln
-
|
- | 3.0 |
|
B | |
| 25019 | chr3 | 52408061 | C | G |
c.272G>C
-
|
p.Cys91Ser
-
|
- | 3.0 |
|
B | |
| 33867 | chr3 | 52408062 | A | C |
c.271T>G
-
|
p.Cys91Gly
-
|
- | 3.5 |
|
B | |
| 24731 | chr3 | 52408473 | C | T |
c.255+1G>A
-
|
p.?
-
|
4.0 |
|
B | ||
| 5999 | chr3 | 52408531 | CA | C |
c.197del
-
|
p.Val66GlyfsTer6
-
|
- | 4.0 |
|
B | |
| 23153 | chr3 | 52408539 | T | TCTA |
c.189_190insTAG
-
|
p.Ser63_Thr64insTer
-
|
- | 4.0 |
|
B | |
| 178 | chr3 | 52408551 | G | A |
c.178C>T
-
|
p.Arg60Ter
-
|
4.67 |
|
A | ||
| 11669 | chr3 | 52408562 | C | T |
c.167G>A
-
|
p.Arg56His
-
|
3.0 |
|
B | ||
| 479 | chr3 | 52408599 | A | T |
c.130T>A
-
|
p.Tyr44Asn
-
|
3.0 |
|
B | ||
| 7097 | chr3 | 52408601 | ACAGGG | A |
c.123_127del
-
|
p.Pro42IlefsTer25
-
|
- | 4.0 |
|
B |