Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35344 | chr13 | 48364918 | T | G |
c.886T>G
|
p.Phe296Val
|
- | 3.0 |
|
B | |
| 14075 | chr13 | 48364922 | TA | T |
c.891del
|
p.Pro298LeufsTer3
|
- | 4.0 |
|
B | |
| 8143 | chr13 | 48364942 | G | T |
c.910G>T
|
p.Gly304Ter
|
- | 4.0 |
|
B | |
| 31444 | chr13 | 48364975 | A | G |
c.939+4A>G
|
-
|
- | 3.0 |
|
B | |
| 33575 | chr13 | 48367493 | G | T |
c.940-1G>T
|
p.?
|
4.0 |
|
B | ||
| 7147 | chr13 | 48367501 | ATCTT | A |
c.951_954del
|
p.Ser318AsnfsTer13
|
5.0 |
|
B | ||
| 27705 | chr13 | 48367503 | C | G |
c.949C>G
|
p.Leu317Val
|
- | 3.0 |
|
B | |
| 31167 | chr13 | 48367512 | C | T |
c.958C>T
|
p.Arg320Ter
|
4.5 |
|
B | ||
| 8524 | chr13 | 48367521 | G | C |
c.967G>C
|
p.Glu323Gln
|
- | 3.0 |
|
B | |
| 2947 | chr13 | 48367525 | TTTATC | T |
c.975_979del
|
p.Tyr325Ter
|
- | 4.0 |
|
B | |
| 33098 | chr13 | 48367527 | T | A |
c.973T>A
|
p.Tyr325Asn
|
- | 4.0 |
|
B | |
| 3376 | chr13 | 48367564 | T | A |
c.1010T>A
|
p.Leu337Ter
|
- | 4.0 |
|
B | |
| 17728 | chr13 | 48367570 | AT | A |
c.1017del
|
p.His339GlnfsTer10
|
- | 4.0 |
|
B | |
| 12436 | chr13 | 48367599 | GACAGGT | G |
c.1047_1049+3del
|
p.?
|
- | 4.0 |
|
B | |
| 27932 | chr13 | 48367605 | T | C |
c.1049+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 26523 | chr13 | 48367606 | A | G |
c.1049+3A>G
|
-
|
3.5 |
|
B | ||
| 4227 | chr13 | 48368549 | C | T |
c.1072C>T
|
p.Arg358Ter
|
4.5 |
|
B | ||
| 9314 | chr13 | 48373424 | C | T |
c.1147C>T
|
p.Gln383Ter
|
4.5 |
|
B | ||
| 10148 | chr13 | 48373493 | G | A |
c.1215+1G>A
|
p.?
|
4.5 |
|
B | ||
| 28010 | chr13 | 48376947 | A | G |
c.1245A>G
|
p.Ile415Met
|
3.0 |
|
B |