Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26511 | chr5 | 56882108 | TCTCCTTTATCTCATCA | T |
c.2909_2924del
|
p.Ser970PhefsTer4
|
- | 4.0 |
|
B | |
| 26512 | chr5 | 56882112 | C | CT |
c.2915dup
|
p.Leu972PhefsTer32
|
- | 4.0 |
|
B | |
| 27390 | chr5 | 56882396 | AC | A |
c.3200del
|
p.Pro1067GlnfsTer15
|
- | 4.0 |
|
B | |
| 26490 | chr5 | 56882699 | T | TACAAAGATGATGTGAATCATAATCAAAAGTGCAAAGAGAAGATGGAAGCTGAAGAAGAAGAAGCTTTAGCAATTGCCATGGCAA |
c.3500_3583dup
|
p.Ala1194_Met1195insAsnLysAspAspValAsnHisAsnGlnLysCysLysGluLysMetGluAlaGluGluGluGluAlaLeuAlaIleAlaMetAla
|
- | 3.0 |
|
B | |
| 15932 | chr5 | 56882753 | G | C |
c.3553G>C
|
p.Glu1185Gln
|
- | 3.0 |
|
B | |
| 17622 | chr5 | 56882853 | T | C |
c.3653T>C
|
p.Ile1218Thr
|
- | 3.0 |
|
B | |
| 14504 | chr5 | 56883646 | TGTGGGAACTGGAACTTTAA | T |
c.3787_3805del
|
p.Val1263TrpfsTer6
|
- | 4.0 |
|
B | |
| 11767 | chr5 | 56884647 | G | A |
c.3820-17G>A
|
-
|
3.0 |
|
B | ||
| 35011 | chr5 | 56884653 | A | C |
c.3820-11A>C
|
-
|
- | 3.0 |
|
B | |
| 30723 | chr5 | 56884673 | G | T |
c.3829G>T
|
p.Val1277Phe
|
- | 3.0 |
|
B | |
| 5021 | chr5 | 56884681 | CACATCTTCTGAGCA | C |
c.3839_3852del
|
p.Thr1280ArgfsTer24
|
- | 4.0 |
|
B | |
| 12070 | chr5 | 56884712 | G | A |
c.3868G>A
|
p.Ala1290Thr
|
- | 3.0 |
|
B | |
| 22728 | chr5 | 56884805 | C | G |
c.3961C>G
|
p.Leu1321Val
|
- | 3.0 |
|
B | |
| 12326 | chr5 | 56884808 | T | G |
c.3964T>G
|
p.Phe1322Val
|
- | 3.0 |
|
B | |
| 12009 | chr5 | 56885984 | AGTT | A |
c.4036_4038del
|
p.Val1346del
|
- | 3.0 |
|
B | |
| 12313 | chr5 | 56887414 | T | C |
c.4151T>C
|
p.Leu1384Pro
|
- | 3.0 |
|
B | |
| 1738 | chr5 | 56887483 | G | A |
c.4220G>A
|
p.Gly1407Glu
|
- | 3.0 |
|
B | |
| 11098 | chr5 | 56887492 | TG | T |
c.4233del
|
p.Thr1412GlnfsTer10
|
- | 3.5 |
|
B | |
| 13451 | chr5 | 56888278 | G | A |
c.4310G>A
|
p.Cys1437Tyr
|
- | 3.0 |
|
B | |
| 5022 | chr5 | 56893551 | T | TC |
c.4412dup
|
p.Ser1472IlefsTer51
|
- | 4.0 |
|
B |