Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 30528 | chr11 | 101039136 | G | C |
c.2782C>G
|
p.Leu928Val
|
- | 3.0 |
|
B | |
| 14414 | chr11 | 101039190 | A | G |
c.2728T>C
|
p.Ser910Pro
|
- | 3.0 |
|
B | |
| 17499 | chr11 | 101050042 | G | A |
c.2375C>T
|
p.Ser792Leu
|
- | 3.0 |
|
B | |
| 32500 | chr11 | 101051416 | C | A |
c.2357+8G>T
|
-
|
- | 3.0 |
|
B | |
| 15828 | chr11 | 101062431 | TA | T |
c.2212+15del
|
-
|
- | 3.0 |
|
B | |
| 21715 | chr11 | 101062483 | G | GTTTTTTTTCTCTATCCTAATGT |
c.2175_2176insACATTAGGATAGAGAAAAAAAA
|
p.Leu726ThrfsTer4
|
- | 3.0 |
|
B | |
| 22502 | chr11 | 101062489 | T | A |
c.2170A>T
|
p.Arg724Trp
|
- | 3.0 |
|
B | |
| 11446 | chr11 | 101062721 | T | G |
c.1938A>C
|
p.Arg646Ser
|
- | 3.0 |
|
B | |
| 15773 | chr11 | 101091812 | G | GT |
c.1853dup
|
p.Asn618LysfsTer8
|
- | 3.0 |
|
B | |
| 25716 | chr11 | 101091816 | T | G |
c.1850A>C
|
p.Lys617Thr
|
- | 3.0 |
|
B | |
| 24045 | chr11 | 101126001 | G | T |
c.1789+6C>A
|
-
|
- | 3.0 |
|
B | |
| 23393 | chr11 | 101127434 | C | T |
c.1637G>A
|
p.Arg546Lys
|
- | 3.0 |
|
B | |
| 23228 | chr11 | 101127593 | TCCCGCGGGAGCAGGCAGCCGC | T |
c.1457_1477del
|
p.Ser486_Asp493delinsAsn
|
- | 3.0 |
|
B | |
| 12829 | chr11 | 101127640 | C | CCGCCCTGCAAGGCGCCG |
c.1430_1431insCGGCGCCTTGCAGGGCG
|
p.Pro478GlyfsTer74
|
- | 3.0 |
|
B | |
| 12830 | chr11 | 101127648 | A | G |
c.1423T>C
|
p.Phe475Leu
|
- | 3.0 |
|
B | |
| 15493 | chr11 | 101127703 | C | T |
c.1368G>A
|
p.Ser456=
|
3.0 |
|
B | ||
| 28556 | chr11 | 101127860 | T | G |
c.1211A>C
|
p.Tyr404Ser
|
- | 3.0 |
|
B | |
| 24777 | chr11 | 101127898 | C | T |
c.1173G>A
|
p.Glu391=
|
3.0 |
|
B | ||
| 16986 | chr11 | 101128053 | C | A |
c.1018G>T
|
p.Ala340Ser
|
- | 3.0 |
|
B | |
| 22697 | chr11 | 101128257 | C | T |
c.814G>A
|
p.Asp272Asn
|
3.0 |
|
B |