Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 21102 | chr13 | 20082034 | C | T |
c.3472C>T
|
p.Arg1158Ter
|
- | 3.0 |
|
B | |
| 29256 | chr13 | 20082100 | C | T |
c.3538C>T
|
p.Arg1180Ter
|
3.0 |
|
B | ||
| 9748 | chr13 | 20082953 | G | A |
c.3741G>A
|
p.Trp1247Ter
|
- | 3.0 |
|
B | |
| 34750 | chr13 | 20083742 | C | T |
c.3907C>T
|
p.Pro1303Ser
|
- | 3.0 |
|
B | |
| 27301 | chr13 | 20085863 | A | G |
c.3983A>G
|
p.Gln1328Arg
|
- | 3.0 |
|
B | |
| 8619 | chr13 | 20085934 | G | T |
c.4054G>T
|
p.Glu1352Ter
|
- | 3.0 |
|
B | |
| 27586 | chr13 | 20085967 | G | A |
c.4087G>A
|
p.Asp1363Asn
|
3.0 |
|
B | ||
| 31330 | chr13 | 20188997 | C | T |
c.585G>A
|
p.Met195Ile
|
3.0 |
|
B | ||
| 7541 | chr13 | 20189266 | A | G |
c.316T>C
|
p.Phe106Leu
|
- | 3.0 |
|
B | |
| 17944 | chr13 | 20189290 | G | A |
c.292C>T
|
p.Arg98Trp
|
3.0 |
|
B | ||
| 30438 | chr13 | 20189307 | G | A |
c.275C>T
|
p.Ala92Val
|
3.0 |
|
B | ||
| 25839 | chr13 | 20189313 | A | G |
c.269T>C
|
p.Leu90Pro
|
3.0 |
|
B | ||
| 1199 | chr13 | 20974991 | TTGTCATCAAAGAACCTTCGG | T |
c.3126_3145del
|
p.Phe1042LeufsTer19
|
- | 3.5 |
|
B | |
| 25840 | chr13 | 20975005 | C | A |
c.3132G>T
|
p.Arg1044Ser
|
3.0 |
|
B | ||
| 25841 | chr13 | 20975265 | G | A |
c.2872C>T
|
p.Arg958Cys
|
3.0 |
|
B | ||
| 24107 | chr13 | 20975334 | G | A |
c.2803C>T
|
p.Pro935Ser
|
3.0 |
|
B | ||
| 33855 | chr13 | 20975345 | GTGTTCTCCCAGT | G |
c.2780_2791del
|
p.Asn927_Asn930del
|
- | 3.0 |
|
B | |
| 28323 | chr13 | 20979672 | G | A |
c.2772+19C>T
|
-
|
3.0 |
|
B | ||
| 14417 | chr13 | 20979749 | T | C |
c.2714A>G
|
p.Glu905Gly
|
- | 3.0 |
|
B | |
| 18366 | chr13 | 20979801 | CAAGACA | C |
c.2666-10_2666-5del
|
-
|
- | 3.0 |
|
B |