Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6310 | chr1 | 46066909 | A | G |
c.495+2T>C
|
p.?
|
- | 3.5 |
|
B | |
| 3255 | chr1 | 46066931 | G | T |
c.475C>A
|
p.Pro159Thr
|
- | 3.0 |
|
B | |
| 8214 | chr1 | 46067011 | G | A |
c.395C>T
|
p.Ser132Phe
|
- | 3.0 |
|
B | |
| 12244 | chr1 | 46131913 | C | T |
c.40G>A
|
p.Asp14Asn
|
- | 3.0 |
|
B | |
| 12245 | chr1 | 46131922 | C | T |
c.31G>A
|
p.Asp11Asn
|
- | 3.0 |
|
B | |
| 23149 | chr1 | 46131944 | ATTG | A |
c.6_8del
|
p.Asn3del
|
- | 3.0 |
|
B | |
| 25933 | chr1 | 46132727 | G | A |
-
|
-
|
- | 3.0 |
|
B | |
| 14575 | chr1 | 46176444 | G | A |
c.-142+1035G>A
c.28C>T
|
-
p.Pro10Ser
|
- | 3.0 |
|
B | |
| 1484 | chr1 | 46248588 | C | G |
c.80C>G
|
p.Pro27Arg
|
3.0 |
|
B | ||
| 4895 | chr1 | 46258685 | G | A |
c.211-1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 25422 | chr1 | 46258752 | A | G |
c.271+6A>G
|
-
|
3.0 |
|
B | ||
| 8571 | chr1 | 46259964 | G | A |
c.272G>A
|
p.Gly91Asp
|
- | 3.0 |
|
B | |
| 6148 | chr1 | 46259978 | C | T |
c.286C>T
|
p.Arg96Ter
|
3.5 |
|
B | ||
| 26411 | chr1 | 46260617 | T | C |
c.477+6T>C
|
-
|
3.0 |
|
B | ||
| 4332 | chr1 | 46260723 | C | A |
c.478-4C>A
|
-
|
- | 3.0 |
|
B | |
| 7612 | chr1 | 46260799 | G | T |
c.550G>T
|
p.Glu184Ter
|
- | 3.5 |
|
B | |
| 8258 | chr1 | 46260839 | T | G |
c.590T>G
|
p.Met197Arg
|
- | 3.0 |
|
B | |
| 6877 | chr1 | 46260854 | G | A |
c.605G>A
|
p.Arg202His
|
3.0 |
|
B | ||
| 7613 | chr1 | 46260865 | G | C |
c.616G>C
|
p.Glu206Gln
|
- | 3.0 |
|
B | |
| 7614 | chr1 | 46260921 | G | C |
c.672G>C
|
p.Lys224Asn
|
- | 3.0 |
|
B |