Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31623 | chr5 | 150057325 | G | A |
-
c.2281C>T
|
-
p.Gln761Ter
|
- | 3.0 |
|
B | |
| 28579 | chr5 | 150059681 | G | T |
c.2132+19C>A
|
-
|
- | 3.0 |
|
B | |
| 26416 | chr5 | 150059805 | C | T |
c.2027G>A
|
p.Arg676Gln
|
3.0 |
|
B | ||
| 29555 | chr5 | 150060842 | A | G |
c.1969+20T>C
|
-
|
3.0 |
|
B | ||
| 33070 | chr5 | 150060897 | T | G |
c.1934A>C
|
p.Asn645Thr
|
- | 3.0 |
|
B | |
| 20659 | chr5 | 150060934 | C | T |
c.1897G>A
|
p.Glu633Lys
|
3.5 |
|
B | ||
| 34747 | chr5 | 150061610 | G | A |
c.1754-15C>T
|
-
|
- | 3.0 |
|
B | |
| 34748 | chr5 | 150061611 | G | A |
c.1754-16C>T
|
-
|
- | 3.0 |
|
B | |
| 7782 | chr5 | 150061740 | C | T |
c.1736G>A
|
p.Arg579Gln
|
3.0 |
|
B | ||
| 30752 | chr5 | 150061747 | A | G |
c.1729T>C
|
p.Phe577Leu
|
- | 3.0 |
|
B | |
| 25424 | chr5 | 150068308 | A | C |
c.1533T>G
|
p.Asp511Glu
|
- | 3.0 |
|
B | |
| 32548 | chr5 | 150070192 | G | A |
c.1309C>T
|
p.His437Tyr
|
- | 3.0 |
|
B | |
| 3085 | chr5 | 150070486 | T | TCCAGCCTCCTGG |
c.1156_1167dup
|
p.Pro386_Trp389dup
|
- | 3.0 |
|
B | |
| 29287 | chr5 | 150070501 | T | G |
c.1153A>C
|
p.Asn385His
|
- | 3.0 |
|
B | |
| 32457 | chr5 | 150073361 | G | A |
c.1022C>T
|
p.Pro341Leu
|
- | 3.0 |
|
B | |
| 34583 | chr5 | 150073434 | C | A |
c.949G>T
|
p.Glu317Ter
|
- | 3.0 |
|
B | |
| 24096 | chr5 | 150073474 | C | G |
c.909G>C
|
p.Leu303Phe
|
- | 3.0 |
|
B | |
| 8395 | chr5 | 150077381 | T | C |
c.784A>G
|
p.Thr262Ala
|
- | 3.0 |
|
B | |
| 31088 | chr5 | 150078195 | G | A |
c.646C>T
|
p.Arg216Ter
|
3.0 |
|
B | ||
| 15741 | chr5 | 150080089 | C | A |
c.555G>T
|
p.Lys185Asn
|
- | 3.0 |
|
B |