Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26723 | chr13 | 23339800 | A | G |
c.4076T>C
|
p.Met1359Thr
|
2.0 |
|
B | ||
| 34085 | chr13 | 23339930 | G | A |
c.3946C>T
|
p.Gln1316Ter
|
- | 3.0 |
|
B | |
| 2653 | chr13 | 23340236 | C | A |
c.3640G>T
|
p.Gly1214Trp
|
- | 3.0 |
|
B | |
| 35659 | chr13 | 23340329 | G | C |
c.3547C>G
|
p.Pro1183Ala
|
- | 3.0 |
|
B | |
| 8823 | chr13 | 23340386 | G | T |
c.3490C>A
|
p.Pro1164Thr
|
- | 3.0 |
|
B | |
| 12960 | chr13 | 23340391 | T | C |
c.3485A>G
|
p.Glu1162Gly
|
- | 3.0 |
|
B | |
| 898 | chr13 | 23340465 | C | A |
c.3411G>T
|
p.Lys1137Asn
|
- | 3.0 |
|
B | |
| 18603 | chr13 | 23340572 | C | T |
c.3304G>A
|
p.Asp1102Asn
|
2.0 |
|
B | ||
| 30786 | chr13 | 23340667 | C | T |
c.3209G>A
|
p.Gly1070Glu
|
- | 3.0 |
|
B | |
| 1985 | chr13 | 23340914 | T | G |
c.2962A>C
|
p.Thr988Pro
|
- | 3.0 |
|
B | |
| 9165 | chr13 | 23341091 | G | A |
c.2785C>T
|
p.Arg929Cys
|
3.0 |
|
B | ||
| 32425 | chr13 | 23341277 | A | AT |
c.2598dup
|
p.Tyr867IlefsTer24
|
- | 3.0 |
|
B | |
| 6727 | chr13 | 23341633 | T | C |
c.2243A>G
|
p.Lys748Arg
|
- | 3.0 |
|
B | |
| 11550 | chr13 | 23341652 | G | A |
c.2224C>T
|
p.Arg742Ter
|
3.5 |
|
B | ||
| 29719 | chr13 | 23346811 | C | A |
c.2186-5121G>T
|
-
|
- | 3.0 |
|
B | |
| 10572 | chr13 | 23353896 | G | A |
c.2094-20C>T
|
-
|
- | 3.0 |
|
B | |
| 14003 | chr13 | 23354808 | C | A |
c.1804G>T
|
p.Ala602Ser
|
- | 3.0 |
|
B | |
| 6385 | chr13 | 23355074 | A | C |
c.1538T>G
|
p.Ile513Arg
|
- | 3.0 |
|
B | |
| 4537 | chr13 | 23355188 | C | T |
c.1424G>A
|
p.Arg475Lys
|
- | 3.0 |
|
B | |
| 6503 | chr13 | 23355446 | T | G |
c.1166A>C
|
p.Lys389Thr
|
- | 3.0 |
|
B |