Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32163 | chr5 | 157245991 | G | A |
c.1625G>A
|
p.Trp542Ter
|
- | 3.0 |
|
B | |
| 1964 | chr5 | 157248997 | G | C |
c.1781G>C
|
p.Cys594Ser
|
- | 3.0 |
|
B | |
| 15345 | chr5 | 158699151 | G | A |
c.1745-9C>T
|
-
|
3.0 |
|
B | ||
| 33489 | chr5 | 158708021 | G | A |
c.1702C>T
|
p.Pro568Ser
|
- | 3.0 |
|
B | |
| 17929 | chr5 | 158708171 | C | A |
c.1552G>T
|
p.Val518Leu
|
3.0 |
|
B | ||
| 35212 | chr5 | 158712962 | C | A |
c.1369+8G>T
|
-
|
- | 3.0 |
|
B | |
| 12162 | chr5 | 158713026 | G | A |
c.1313C>T
|
p.Ser438Leu
|
3.0 |
|
B | ||
| 33202 | chr5 | 158713093 | G | A |
c.1246C>T
|
p.Arg416Cys
|
3.0 |
|
B | ||
| 24343 | chr5 | 158713095 | G | A |
c.1244C>T
|
p.Pro415Leu
|
- | 3.0 |
|
B | |
| 33318 | chr5 | 158713123 | C | T |
c.1216G>A
|
p.Asp406Asn
|
3.0 |
|
B | ||
| 29320 | chr5 | 158714110 | C | G |
c.1191+7G>C
|
-
|
- | 3.0 |
|
B | |
| 17776 | chr5 | 158731063 | C | T |
c.1125+6G>A
|
-
|
- | 3.0 |
|
B | |
| 13164 | chr5 | 158731079 | C | T |
c.1115G>A
|
p.Arg372His
|
3.0 |
|
B | ||
| 12978 | chr5 | 158731150 | G | T |
c.1044C>A
|
p.Asn348Lys
|
- | 3.0 |
|
B | |
| 11472 | chr5 | 158777517 | C | T |
c.932G>A
|
p.Arg311His
|
3.0 |
|
B | ||
| 29497 | chr5 | 158823278 | G | T |
c.676C>A
|
p.Leu226Met
|
- | 3.0 |
|
B | |
| 14737 | chr5 | 158840057 | C | T |
c.608G>A
|
p.Gly203Glu
|
- | 3.0 |
|
B | |
| 30117 | chr5 | 159073398 | G | A |
c.552C>T
|
p.Asp184=
|
- | 3.0 |
|
B | |
| 16592 | chr5 | 159073432 | C | T |
c.518G>A
|
p.Arg173Gln
|
3.0 |
|
B | ||
| 17668 | chr5 | 159073433 | G | A |
c.517C>T
|
p.Arg173Ter
|
4.0 |
|
B |