Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30169 | chr1 | 237595674 | G | A |
c.4596+17G>A
|
-
|
- | 3.0 |
|
B | |
| 15858 | chr1 | 237610756 | C | T |
c.4684-6C>T
|
-
|
2.0 |
|
B | ||
| 29424 | chr1 | 237610770 | G | A |
c.4692G>A
|
p.Met1564Ile
|
3.0 |
|
B | ||
| 24929 | chr1 | 237610839 | C | A |
c.4761C>A
|
p.His1587Gln
|
3.0 |
|
B | ||
| 21835 | chr1 | 237610855 | C | A |
c.4777C>A
|
p.His1593Asn
|
- | 3.0 |
|
B | |
| 29131 | chr1 | 237610876 | C | T |
c.4798C>T
|
p.Pro1600Ser
|
3.0 |
|
B | ||
| 21589 | chr1 | 237610907 | G | A |
c.4829G>A
|
p.Arg1610Gln
|
3.0 |
|
B | ||
| 13019 | chr1 | 237614033 | C | T |
c.4911-6C>T
|
-
|
- | 3.0 |
|
B | |
| 16077 | chr1 | 237614220 | C | A |
c.5092C>A
|
p.Leu1698Met
|
- | 3.0 |
|
B | |
| 23889 | chr1 | 237614313 | A | G |
c.5185A>G
|
p.Met1729Val
|
- | 3.0 |
|
B | |
| 8304 | chr1 | 237614407 | G | A |
c.5279G>A
|
p.Arg1760Gln
|
2.5 |
|
B | ||
| 16681 | chr1 | 237614532 | G | A |
c.5404G>A
|
p.Gly1802Ser
|
3.0 |
|
B | ||
| 14113 | chr1 | 237614537 | T | G |
c.5409T>G
|
p.Ser1803Arg
|
- | 3.0 |
|
B | |
| 29234 | chr1 | 237614597 | G | T |
c.5469G>T
|
p.Lys1823Asn
|
- | 3.0 |
|
B | |
| 34553 | chr1 | 237614636 | C | A |
c.5508C>A
|
p.Asn1836Lys
|
3.0 |
|
B | ||
| 19949 | chr1 | 237614654 | C | CT |
c.5528dup
|
p.Leu1843PhefsTer5
|
- | 3.0 |
|
B | |
| 31683 | chr1 | 237614697 | C | A |
c.5569C>A
|
p.Pro1857Thr
|
- | 3.0 |
|
B | |
| 22034 | chr1 | 237614698 | C | T |
c.5570C>T
|
p.Pro1857Leu
|
2.5 |
|
B | ||
| 31747 | chr1 | 237614787 | A | C |
c.5659A>C
|
p.Lys1887Gln
|
- | 3.0 |
|
B | |
| 15616 | chr1 | 237614805 | C | A |
c.5677C>A
|
p.Leu1893Met
|
- | 3.0 |
|
B |