Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 20920 | chr14 | 45151460 | A | C |
c.982A>C
|
p.Asn328His
|
3.0 |
|
B | ||
| 16217 | chr14 | 45151504 | GA | G |
c.1031del
|
p.Asn344ThrfsTer13
|
- | 4.0 |
|
B | |
| 12374 | chr14 | 45154032 | G | A |
c.1163G>A
|
p.Gly388Glu
|
- | 3.0 |
|
B | |
| 21689 | chr14 | 45155360 | T | G |
c.1310-13T>G
|
-
|
- | 3.0 |
|
B | |
| 33821 | chr14 | 45155366 | G | T |
c.1310-7G>T
|
-
|
- | 3.0 |
|
B | |
| 7678 | chr14 | 45159096 | C | T |
c.1397C>T
|
p.Ala466Val
|
- | 3.0 |
|
B | |
| 32594 | chr14 | 45159098 | G | A |
c.1399G>A
|
p.Glu467Lys
|
- | 3.0 |
|
B | |
| 35690 | chr14 | 45159288 | T | A |
c.1581+8T>A
|
-
|
- | 3.0 |
|
B | |
| 19020 | chr14 | 45164434 | G | A |
c.1657G>A
|
p.Gly553Arg
|
- | 3.0 |
|
B | |
| 2982 | chr14 | 45164509 | G | A |
c.1732G>A
|
p.Gly578Ser
|
- | 3.0 |
|
B | |
| 25231 | chr14 | 45164569 | A | C |
c.1788+4A>C
|
-
|
- | 3.0 |
|
B | |
| 1526 | chr14 | 45167152 | C | T |
c.1991C>T
|
p.Ser664Phe
|
- | 3.0 |
|
B | |
| 3807 | chr14 | 45167171 | A | C |
c.2002+8A>C
|
-
|
- | 3.0 |
|
B | |
| 18902 | chr14 | 45170697 | C | A |
c.2111C>A
|
p.Thr704Lys
|
- | 3.0 |
|
B | |
| 7950 | chr14 | 45170715 | T | TTCC |
c.2130_2131insCCT
|
p.Phe710_Ser711insPro
|
- | 3.0 |
|
B | |
| 31590 | chr14 | 45170745 | C | T |
c.2159C>T
|
p.Pro720Leu
|
- | 3.5 |
|
B | |
| 10771 | chr14 | 45173126 | G | T |
c.2232G>T
|
p.Leu744Phe
|
- | 3.0 |
|
B | |
| 24401 | chr14 | 45175098 | G | T |
c.2344G>T
|
p.Glu782Ter
|
- | 4.0 |
|
B | |
| 14898 | chr14 | 45175237 | C | G |
c.2483C>G
|
p.Ser828Ter
|
- | 3.5 |
|
B | |
| 2386 | chr14 | 45175394 | T | A |
c.2640T>A
|
p.Asn880Lys
|
- | 3.0 |
|
B |