Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4590 | chr3 | 89341027 | A | G |
c.926A>G
|
p.Asn309Ser
|
3.0 |
|
B | ||
| 5062 | chr3 | 89341061 | G | T |
c.960G>T
|
p.Met320Ile
|
- | 3.0 |
|
B | |
| 19300 | chr3 | 89341760 | C | G |
c.976C>G
|
p.Pro326Ala
|
- | 3.0 |
|
B | |
| 22437 | chr3 | 89341781 | A | C |
c.997A>C
|
p.Ile333Leu
|
- | 3.0 |
|
B | |
| 1817 | chr3 | 89341818 | G | A |
c.1034G>A
|
p.Trp345Ter
|
- | 3.5 |
|
B | |
| 1818 | chr3 | 89341850 | G | A |
c.1066G>A
|
p.Asp356Asn
|
- | 3.0 |
|
B | |
| 1819 | chr3 | 89341872 | G | A |
c.1088G>A
|
p.Cys363Tyr
|
- | 3.0 |
|
B | |
| 2607 | chr3 | 89341942 | G | T |
c.1158G>T
|
p.Gln386His
|
- | 3.0 |
|
B | |
| 1820 | chr3 | 89342012 | G | A |
c.1228G>A
|
p.Asp410Asn
|
- | 3.0 |
|
B | |
| 2208 | chr3 | 89342019 | T | C |
c.1235T>C
|
p.Val412Ala
|
- | 3.0 |
|
B | |
| 1821 | chr3 | 89342052 | G | A |
c.1268G>A
|
p.Arg423Lys
|
- | 3.0 |
|
B | |
| 29190 | chr3 | 89342057 | T | C |
c.1273T>C
|
p.Phe425Leu
|
- | 3.0 |
|
B | |
| 27742 | chr3 | 89342074 | C | G |
c.1290C>G
|
p.Ile430Met
|
- | 3.0 |
|
B | |
| 33789 | chr3 | 89395870 | G | C |
c.1340G>C
|
p.Arg447Pro
|
- | 3.0 |
|
B | |
| 28208 | chr3 | 89395915 | A | C |
c.1385A>C
|
p.His462Pro
|
- | 3.0 |
|
B | |
| 979 | chr3 | 89395963 | TG | T |
c.1431+6del
|
-
|
3.0 |
|
B | ||
| 18081 | chr3 | 89395973 | A | T |
c.1431+12A>T
|
-
|
- | 3.0 |
|
B | |
| 16318 | chr3 | 89399376 | G | A |
c.1490G>A
|
p.Ser497Asn
|
3.0 |
|
B | ||
| 20593 | chr3 | 89399398 | A | G |
c.1512A>G
|
p.Ile504Met
|
- | 3.0 |
|
B | |
| 1242 | chr3 | 89399429 | G | A |
c.1543G>A
|
p.Ala515Thr
|
- | 3.0 |
|
B |