Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17083 | chr3 | 30650326 | C | A |
c.320C>A
|
p.Pro107His
|
- | 3.0 |
|
B | |
| 1398 | chr3 | 30650379 | G | GA |
c.383dup
|
p.Pro129AlafsTer3
|
4.5 |
|
B | ||
| 12383 | chr3 | 30650379 | GA | G |
c.383del
|
p.Lys128SerfsTer35
|
2.0 |
|
B | ||
| 569 | chr3 | 30650379 | GAA | G |
c.382_383del
|
p.Lys128AlafsTer3
|
4.0 |
|
B | ||
| 12059 | chr3 | 30650404 | T | C |
c.398T>C
|
p.Phe133Ser
|
- | 3.0 |
|
B | |
| 26748 | chr3 | 30671727 | GTCATCATCATCTTCTACTGCTACCGCGTTA | G |
c.545_574del
|
p.Val182_Asn192delinsAsp
|
- | 3.0 |
|
B | |
| 16583 | chr3 | 30671816 | G | T |
c.633G>T
|
p.Glu211Asp
|
- | 3.0 |
|
B | |
| 21725 | chr3 | 30671932 | TG | T |
c.753del
|
p.Gly253ValfsTer11
|
- | 4.0 |
|
B | |
| 11181 | chr3 | 30672120 | C | T |
c.937C>T
|
p.Arg313Trp
|
3.0 |
|
B | ||
| 7104 | chr3 | 30672192 | CTGACGCGGCA | C |
c.1012_1021del
|
p.Thr338SerfsTer47
|
- | 4.0 |
|
B | |
| 4049 | chr3 | 30672198 | C | T |
c.1015C>T
|
p.Arg339Trp
|
2.5 |
|
B | ||
| 10136 | chr3 | 30672267 | C | A |
c.1084C>A
|
p.His362Asn
|
- | 3.0 |
|
B | |
| 31018 | chr3 | 30672318 | G | A |
c.1135G>A
|
p.Asp379Asn
|
- | 3.0 |
|
B | |
| 1446 | chr3 | 30672324 | A | C |
c.1141A>C
|
p.Lys381Gln
|
- | 3.0 |
|
B | |
| 17042 | chr3 | 30672361 | G | A |
c.1178G>A
|
p.Cys393Tyr
|
3.0 |
|
B | ||
| 1304 | chr3 | 30672382 | T | TTTC |
c.1200_1202dup
|
p.Ser401dup
|
- | 3.0 |
|
B | |
| 30445 | chr3 | 30672403 | CTCTG | C |
c.1226_1229del
|
p.Ser409TrpfsTer21
|
4.0 |
|
B | ||
| 12099 | chr3 | 30672405 | C | CT |
c.1223dup
|
p.Ser409ValfsTer4
|
- | 4.0 |
|
B | |
| 10085 | chr3 | 30672428 | CAG | C |
c.1246_1247del
|
p.Ser416TrpfsTer24
|
- | 4.0 |
|
B | |
| 22591 | chr3 | 30674109 | G | A |
c.1259G>A
|
p.Gly420Glu
|
- | 3.0 |
|
B |