Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31172 | chr2 | 21006996 | C | T |
c.9872G>A
|
p.Arg3291His
|
2.0 |
|
B | ||
| 31752 | chr2 | 21007134 | G | T |
c.9734C>A
|
p.Thr3245Asn
|
- | 3.0 |
|
B | |
| 28445 | chr2 | 21007235 | G | GT |
c.9632dup
|
p.Asn3211LysfsTer14
|
- | 3.0 |
|
B | |
| 17074 | chr2 | 21007263 | T | A |
c.9605A>T
|
p.Lys3202Ile
|
- | 3.0 |
|
B | |
| 8323 | chr2 | 21007338 | T | G |
c.9530A>C
|
p.Tyr3177Ser
|
- | 3.0 |
|
B | |
| 31198 | chr2 | 21007390 | C | T |
c.9478G>A
|
p.Glu3160Lys
|
2.0 |
|
B | ||
| 27634 | chr2 | 21007530 | G | A |
c.9338C>T
|
p.Ala3113Val
|
- | 3.0 |
|
B | |
| 12687 | chr2 | 21007692 | C | T |
c.9176G>A
|
p.Arg3059His
|
3.0 |
|
B | ||
| 31618 | chr2 | 21007735 | C | G |
c.9133G>C
|
p.Glu3045Gln
|
- | 3.0 |
|
B | |
| 28888 | chr2 | 21007962 | C | T |
c.8906G>A
|
p.Arg2969Lys
|
3.0 |
|
B | ||
| 16234 | chr2 | 21008419 | G | T |
c.8449C>A
|
p.Pro2817Thr
|
3.0 |
|
B | ||
| 26844 | chr2 | 21008455 | T | C |
c.8413A>G
|
p.Asn2805Asp
|
- | 3.0 |
|
B | |
| 26663 | chr2 | 21008497 | C | T |
c.8371G>A
|
p.Ala2791Thr
|
2.5 |
|
B | ||
| 15430 | chr2 | 21008554 | C | G |
c.8314G>C
|
p.Asp2772His
|
2.5 |
|
B | ||
| 20507 | chr2 | 21008652 | G | A |
c.8216C>T
|
p.Pro2739Leu
|
1.0 |
|
B | ||
| 26759 | chr2 | 21008782 | G | C |
c.8086C>G
|
p.Leu2696Val
|
- | 3.0 |
|
B | |
| 9885 | chr2 | 21008847 | C | A |
c.8021G>T
|
p.Arg2674Ile
|
- | 3.0 |
|
B | |
| 18436 | chr2 | 21008875 | A | C |
c.7993T>G
|
p.Phe2665Val
|
- | 3.0 |
|
B | |
| 18274 | chr2 | 21008988 | G | A |
c.7880C>T
|
p.Pro2627Leu
|
- | 3.0 |
|
B | |
| 26592 | chr2 | 21009022 | C | T |
c.7846G>A
|
p.Asp2616Asn
|
- | 3.0 |
|
B |