Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26906 | chr1 | 9717075 | G | A |
c.897G>A
|
p.Pro299=
|
2.0 |
|
B | ||
| 19934 | chr1 | 9717126 | G | A |
c.930+18G>A
|
-
|
2.5 |
|
B | ||
| 11872 | chr1 | 9718722 | G | A |
c.1049G>A
|
p.Gly350Asp
|
- | 3.0 |
|
B | |
| 23558 | chr1 | 9718773 | C | T |
c.1100C>T
|
p.Ser367Leu
|
3.0 |
|
B | ||
| 34447 | chr1 | 9720440 | G | A |
c.1471-171G>A
|
-
|
- | 3.0 |
|
B | |
| 35503 | chr1 | 9720580 | TG | T |
c.1471-27del
|
-
|
- | 3.0 |
|
B | |
| 20716 | chr1 | 9720724 | C | G |
c.1522-18C>G
|
-
|
- | 2.5 |
|
B | |
| 446 | chr1 | 9720754 | C | T |
c.1534C>T
|
p.Arg512Trp
|
3.0 |
|
S | ||
| 30165 | chr1 | 9720763 | C | T |
c.1543C>T
|
p.Leu515=
|
- | 3.0 |
|
B | |
| 14169 | chr1 | 9721436 | C | T |
c.1812-8C>T
|
-
|
- | 3.0 |
|
B | |
| 2807 | chr1 | 9721437 | C | T |
c.1812-7C>T
|
-
|
- | 3.0 |
|
B | |
| 8561 | chr1 | 9721539 | G | C |
c.1907G>C
|
p.Arg636Pro
|
- | 3.0 |
|
B | |
| 21847 | chr1 | 9721767 | G | C |
c.1962G>C
|
p.Glu654Asp
|
- | 3.0 |
|
B | |
| 4894 | chr1 | 9721786 | G | C |
c.1981G>C
|
p.Ala661Pro
|
- | 3.0 |
|
B | |
| 30054 | chr1 | 9721823 | G | A |
c.2018G>A
|
p.Arg673Lys
|
- | 3.0 |
|
B | |
| 22611 | chr1 | 9721969 | C | T |
c.2056-6C>T
|
-
|
- | 3.0 |
|
B | |
| 21570 | chr1 | 9722028 | T | TCAGAAGA |
c.2111_2117dup
|
p.Pro707GlufsTer39
|
- | 3.0 |
|
B | |
| 18376 | chr1 | 9722165 | C | T |
c.2234+12C>T
|
-
|
- | 3.0 |
|
B | |
| 10817 | chr1 | 9722369 | C | T |
c.2347+13C>T
|
-
|
3.0 |
|
B | ||
| 12139 | chr1 | 9723132 | C | T |
c.2434C>T
|
p.Pro812Ser
|
- | 3.0 |
|
B |