Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 18749 | chr5 | 24488109 | CT | C |
c.1920del
|
p.Glu641SerfsTer3
|
- | 4.0 |
|
B | |
| 17268 | chr5 | 24488117 | C | T |
c.1913G>A
|
p.Arg638Gln
|
3.0 |
|
B | ||
| 31763 | chr5 | 24491773 | C | A |
c.1679G>T
|
p.Ser560Ile
|
- | 3.0 |
|
B | |
| 34099 | chr5 | 24492852 | GC | G |
c.1588del
|
p.Ala530LeufsTer19
|
- | 4.0 |
|
B | |
| 19581 | chr5 | 24492863 | GA | G |
c.1577del
|
p.Phe526SerfsTer3
|
4.0 |
|
B | ||
| 25495 | chr5 | 24492870 | A | AC |
c.1570_1571insG
|
p.Phe524CysfsTer17
|
- | 4.0 |
|
B | |
| 30600 | chr5 | 24492870 | A | C |
c.1571T>G
|
p.Phe524Cys
|
- | 3.0 |
|
B | |
| 24906 | chr5 | 24492926 | C | A |
c.1516-1G>T
|
p.?
|
- | 4.0 |
|
B | |
| 31317 | chr5 | 24498388 | A | C |
c.1515+10T>G
|
-
|
- | 3.0 |
|
B | |
| 28369 | chr5 | 24498470 | A | C |
c.1443T>G
|
p.Asp481Glu
|
- | 3.0 |
|
B | |
| 30180 | chr5 | 24498492 | G | A |
c.1421C>T
|
p.Ala474Val
|
- | 3.0 |
|
B | |
| 16908 | chr5 | 24498499 | G | A |
c.1414C>T
|
p.Arg472Cys
|
3.0 |
|
B | ||
| 27695 | chr5 | 24498501 | G | T |
c.1412C>A
|
p.Thr471Lys
|
3.0 |
|
B | ||
| 35568 | chr5 | 24505163 | C | T |
c.1342G>A
|
p.Asp448Asn
|
- | 3.0 |
|
B | |
| 14090 | chr5 | 24505174 | G | A |
c.1331C>T
|
p.Ser444Leu
|
- | 3.0 |
|
B | |
| 21378 | chr5 | 24505219 | T | A |
c.1286A>T
|
p.Asp429Val
|
- | 3.0 |
|
B | |
| 28402 | chr5 | 24505262 | G | T |
c.1257-14C>A
|
-
|
3.0 |
|
B | ||
| 24907 | chr5 | 24509572 | G | A |
c.1250C>T
|
p.Pro417Leu
|
- | 3.0 |
|
B | |
| 20310 | chr5 | 24509573 | G | T |
c.1249C>A
|
p.Pro417Thr
|
- | 3.0 |
|
B | |
| 35164 | chr5 | 24509596 | C | A |
c.1226G>T
|
p.Arg409Met
|
- | 3.0 |
|
B |