Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11018 | chr5 | 68292380 | C | A |
c.1019+19C>A
|
-
|
- | 3.0 |
|
B | |
| 9422 | chr5 | 68293093 | C | T |
c.1020-8C>T
|
-
|
- | 3.0 |
|
B | |
| 20004 | chr5 | 68293320 | AATT | A |
c.1138_1140del
|
p.Leu380del
|
- | 3.0 |
|
B | |
| 27551 | chr5 | 68293332 | T | A |
c.1148T>A
|
p.Ile383Lys
|
- | 3.0 |
|
B | |
| 33307 | chr5 | 68293364 | GACCCATTAACCTTCAGTTCTGTGGTTGAATTAATAA | G |
c.1184_1219del
|
p.Pro395_Asn406del
|
- | 3.5 |
|
B | |
| 2596 | chr5 | 68293726 | AGAT | A |
c.1318_1320del
|
p.Asp440del
|
- | 3.0 |
|
B | |
| 444 | chr5 | 68293734 | TTGAAGCTGTAGGGAAAAAATTACA | T |
c.1330_1353del
|
p.Ala444_Glu451del
|
- | 3.29 |
|
S | |
| 8876 | chr5 | 68293734 | TTGAAGCTGTAGGGAAAAAATTACATGAATA | T |
c.1327_1356del
|
p.Glu443_Tyr452del
|
- | 3.0 |
|
B | |
| 26641 | chr5 | 68293747 | GA | G |
c.1344del
|
p.Lys448AsnfsTer32
|
4.5 |
|
B | ||
| 848 | chr5 | 68293750 | AAAATTACATGAATATAAC | A |
c.1343_1360del
|
p.Lys448_Asn453del
|
- | 3.0 |
|
B | |
| 14010 | chr5 | 68293751 | AAATTAC | A |
c.1344_1349del
|
p.Lys448_His450delinsAsn
|
- | 3.5 |
|
B | |
| 14454 | chr5 | 68293752 | AATT | A |
c.1345_1347del
|
p.Leu449del
|
- | 3.5 |
|
B | |
| 1187 | chr5 | 68293754 | TTACATGAATATAACACTCAGTTTCAAGAAAAAAGTCGAGAATATG | T |
c.1346_1390del
|
p.Leu449_Asp464delinsTyr
|
- | 3.0 |
|
B | |
| 2580 | chr5 | 68293756 | ACAT | A |
c.1348_1350del
|
p.His450del
|
- | 3.0 |
|
B | |
| 18469 | chr5 | 68293757 | CATGAAT | C |
c.1351_1356del
|
p.Glu451_Tyr452del
|
- | 3.5 |
|
B | |
| 13570 | chr5 | 68293758 | A | ATGT |
c.1351_1352insTTG
|
p.His450_Glu451insVal
|
- | 3.0 |
|
B | |
| 34827 | chr5 | 68293759 | TGA | T |
c.1351_1352del
|
p.Glu451IlefsTer2
|
- | 4.0 |
|
B | |
| 11796 | chr5 | 68293762 | ATAT | A |
c.1354_1356del
|
p.Tyr452del
|
- | 3.5 |
|
B | |
| 34705 | chr5 | 68293765 | T | TAACACTCAGTTTCAAGAAAAAAGTCGAGAATAC |
c.1388_1389insCAACACTCAGTTTCAAGAAAAAAGTCGAGAATA
|
p.Asn453_Tyr463dup
|
- | 3.0 |
|
B | |
| 1392 | chr5 | 68293772 | CAGT | C |
c.1364_1366del
|
p.Gln455_Phe456delinsLeu
|
- | 3.0 |
|
B |