Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7131 | chr13 | 32337882 | T | G |
c.3527T>G
|
p.Val1176Gly
|
- | 3.0 |
|
B | |
| 31629 | chr13 | 32337992 | G | T |
c.3637G>T
|
p.Glu1213Ter
|
4.0 |
|
B | ||
| 6976 | chr13 | 32337999 | G | T |
c.3644G>T
|
p.Gly1215Val
|
- | 3.0 |
|
B | |
| 4337 | chr13 | 32338154 | GATTC | G |
c.3800_3803del
|
p.Asp1267ValfsTer8
|
- | 4.0 |
|
B | |
| 6286 | chr13 | 32338167 | C | T |
c.3812C>T
|
p.Ser1271Leu
|
- | 3.0 |
|
B | |
| 17031 | chr13 | 32338208 | G | GA |
c.3860dup
|
p.Asn1287LysfsTer2
|
4.5 |
|
B | ||
| 16087 | chr13 | 32338409 | G | C |
c.4054G>C
|
p.Asp1352His
|
- | 3.0 |
|
B | |
| 25313 | chr13 | 32338419 | A | G |
c.4064A>G
|
p.Asp1355Gly
|
- | 3.0 |
|
B | |
| 17481 | chr13 | 32338451 | CTTAAATTATCTGGCCAGTTTATGAAGGAGGGAAACACTCAGA | C |
c.4102_4143del
|
p.Leu1368_Lys1381del
|
- | 3.0 |
|
B | |
| 985 | chr13 | 32338529 | GT | G |
c.4176del
|
p.Ala1393ArgfsTer17
|
4.5 |
|
B | ||
| 35341 | chr13 | 32338702 | C | A |
c.4347C>A
|
p.Phe1449Leu
|
2.5 |
|
B | ||
| 8153 | chr13 | 32338890 | G | A |
c.4535G>A
|
p.Arg1512His
|
2.5 |
|
B | ||
| 20388 | chr13 | 32339298 | CA | C |
c.4948del
|
p.Ser1650ValfsTer20
|
- | 4.5 |
|
B | |
| 14956 | chr13 | 32339330 | T | C |
c.4975T>C
|
p.Ser1659Pro
|
- | 3.0 |
|
B | |
| 8884 | chr13 | 32339497 | T | A |
c.5142T>A
|
p.Tyr1714Ter
|
- | 4.0 |
|
B | |
| 34864 | chr13 | 32339509 | T | A |
c.5154T>A
|
p.Asn1718Lys
|
- | 3.0 |
|
B | |
| 19329 | chr13 | 32339566 | T | A |
c.5211T>A
|
p.Asp1737Glu
|
2.5 |
|
B | ||
| 32480 | chr13 | 32339699 | C | CA |
c.5351dup
|
p.Asn1784LysfsTer3
|
4.5 |
|
B | ||
| 19924 | chr13 | 32339699 | CA | C |
c.5351del
|
p.Asn1784ThrfsTer7
|
4.5 |
|
B | ||
| 12023 | chr13 | 32339783 | G | A |
c.5428G>A
|
p.Val1810Ile
|
2.5 |
|
B |