Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 29331 | chr5 | 23526376 | C | A |
c.1288C>A
|
p.Pro430Thr
|
- | 3.0 |
|
B | |
| 27973 | chr5 | 23526442 | A | C |
c.1354A>C
|
p.Lys452Gln
|
- | 3.0 |
|
B | |
| 34013 | chr5 | 23526477 | G | T |
c.1389G>T
|
p.Leu463Phe
|
- | 3.0 |
|
B | |
| 3882 | chr5 | 23526484 | AG | A |
c.1398del
|
p.Thr467HisfsTer27
|
- | 3.0 |
|
B | |
| 8893 | chr5 | 23526545 | G | A |
c.1457G>A
|
p.Ser486Asn
|
- | 3.0 |
|
B | |
| 32492 | chr5 | 23526546 | C | A |
c.1458C>A
|
p.Ser486Arg
|
- | 3.0 |
|
B | |
| 4276 | chr5 | 23526560 | A | G |
c.1472A>G
|
p.Lys491Arg
|
- | 3.0 |
|
B | |
| 8211 | chr5 | 23526587 | C | A |
c.1499C>A
|
p.Thr500Lys
|
- | 3.0 |
|
B | |
| 1375 | chr5 | 23526594 | G | T |
c.1506G>T
|
p.Gln502His
|
- | 3.0 |
|
B | |
| 11097 | chr5 | 23526831 | C | T |
c.1743C>T
|
p.Val581=
|
3.0 |
|
B | ||
| 6013 | chr5 | 23526878 | C | G |
c.1790C>G
|
p.Thr597Ser
|
3.0 |
|
B | ||
| 8145 | chr5 | 23526932 | G | A |
c.1844G>A
|
p.Arg615Gln
|
3.0 |
|
B | ||
| 8124 | chr5 | 23526943 | C | T |
c.1855C>T
|
p.Arg619Trp
|
3.0 |
|
B | ||
| 2081 | chr5 | 23526962 | C | CGATAGGTCAAGCCTCTGCTA |
c.1874_1875insGATAGGTCAAGCCTCTGCTA
|
p.His626IlefsTer320
|
- | 3.0 |
|
B | |
| 8984 | chr5 | 23526974 | G | T |
c.1886G>T
|
p.Arg629Ile
|
3.0 |
|
B | ||
| 7715 | chr5 | 23526978 | C | A |
c.1890C>A
|
p.His630Gln
|
- | 3.0 |
|
B | |
| 7383 | chr5 | 23527013 | G | C |
c.1925G>C
|
p.Gly642Ala
|
- | 3.0 |
|
B | |
| 31021 | chr5 | 23527021 | T | A |
c.1933T>A
|
p.Phe645Ile
|
3.0 |
|
B | ||
| 8203 | chr5 | 23527299 | A | ATAGGTCAAGCCTCTGCTAT |
c.2211_2212insTAGGTCAAGCCTCTGCTAT
|
p.His738Ter
|
- | 3.0 |
|
B | |
| 31687 | chr5 | 23527318 | G | T |
c.2230G>T
|
p.Gly744Trp
|
- | 3.0 |
|
B |