Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 25230 | chr14 | 21397897 | C | A |
c.4977G>T
|
p.Lys1659Asn
|
- | 3.0 |
|
B | |
| 9254 | chr14 | 21397928 | C | A |
c.4946G>T
|
p.Arg1649Met
|
- | 3.0 |
|
B | |
| 9829 | chr14 | 21397947 | C | G |
c.4927G>C
|
p.Glu1643Gln
|
- | 3.0 |
|
B | |
| 25639 | chr14 | 21399662 | G | A |
c.4861C>T
|
p.Pro1621Ser
|
- | 3.0 |
|
B | |
| 6572 | chr14 | 21399702 | C | G |
c.4821G>C
|
p.Glu1607Asp
|
- | 3.0 |
|
B | |
| 10419 | chr14 | 21399997 | CT | C |
c.4800del
|
p.Gly1602ValfsTer13
|
3.0 |
|
B | ||
| 15037 | chr14 | 21400245 | C | T |
c.4633G>A
|
p.Asp1545Asn
|
- | 3.0 |
|
B | |
| 6573 | chr14 | 21400274 | C | T |
c.4604G>A
|
p.Gly1535Glu
|
3.0 |
|
B | ||
| 33275 | chr14 | 21400425 | G | GC |
c.4557dup
|
p.Gln1520AlafsTer26
|
- | 3.0 |
|
B | |
| 2484 | chr14 | 21400502 | TA | T |
c.4480del
|
p.Tyr1494ThrfsTer14
|
- | 3.0 |
|
B | |
| 19737 | chr14 | 21400504 | G | C |
c.4479C>G
|
p.His1493Gln
|
- | 3.0 |
|
B | |
| 3044 | chr14 | 21400568 | C | T |
c.4415G>A
|
p.Arg1472Gln
|
3.0 |
|
B | ||
| 19681 | chr14 | 21400601 | C | A |
c.4382G>T
|
p.Trp1461Leu
|
- | 3.0 |
|
B | |
| 12094 | chr14 | 21400605 | G | A |
c.4378C>T
|
p.Arg1460Ter
|
3.0 |
|
B | ||
| 7120 | chr14 | 21400936 | GGTCATGTCTGCGGGAGC | G |
c.4292_4308del
|
p.Arg1431ProfsTer9
|
- | 3.0 |
|
B | |
| 6818 | chr14 | 21402010 | G | A |
c.4009C>T
|
p.Arg1337Ter
|
3.0 |
|
B | ||
| 34831 | chr14 | 21402425 | T | A |
c.3793A>T
|
p.Arg1265Ter
|
3.0 |
|
B | ||
| 26266 | chr14 | 21402474 | C | A |
c.3744G>T
|
p.Gln1248His
|
- | 3.0 |
|
B | |
| 32293 | chr14 | 21403001 | CA | C |
c.3714+15del
|
-
|
- | 3.0 |
|
B | |
| 7010 | chr14 | 21403122 | AAAGCGGTCTGAGTCAGGCTTGCTGAAGCGGTC | A |
c.3577_3608del
|
p.Asp1193CysfsTer14
|
- | 3.0 |
|
B |