Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 16025 | chr1 | 26696674 | G | A |
c.271G>A
|
p.Gly91Ser
|
3.0 |
|
B | ||
| 32573 | chr1 | 26696749 | A | ATT |
c.346_347insTT
|
p.Asn116IlefsTer117
|
- | 4.0 |
|
B | |
| 8338 | chr1 | 26696798 | TG | T |
c.400del
|
p.Ala134ArgfsTer98
|
- | 4.0 |
|
B | |
| 21081 | chr1 | 26696842 | GC | G |
c.441del
|
p.Tyr148ThrfsTer84
|
- | 4.0 |
|
B | |
| 8043 | chr1 | 26696881 | GCCGTCGCCGCCGCC | G |
c.479_492del
|
p.Ala160GlyfsTer235
|
- | 4.0 |
|
B | |
| 11780 | chr1 | 26696979 | G | GGAGCCCTACGC |
c.578_588dup
|
p.Gly197SerfsTer39
|
- | 4.0 |
|
B | |
| 10421 | chr1 | 26697009 | TCACGA | T |
c.608_612del
|
p.His203ProfsTer195
|
- | 4.0 |
|
B | |
| 9214 | chr1 | 26697048 | C | A |
c.645C>A
|
p.Tyr215Ter
|
- | 4.0 |
|
B | |
| 31860 | chr1 | 26697068 | AC | A |
c.671del
|
p.Pro224ArgfsTer8
|
4.0 |
|
B | ||
| 22488 | chr1 | 26697147 | C | T |
c.744C>T
|
p.Gly248=
|
2.5 |
|
B | ||
| 1175 | chr1 | 26697151 | A | T |
c.748A>T
|
p.Lys250Ter
|
- | 4.0 |
|
B | |
| 7343 | chr1 | 26697159 | TCC | T |
c.758_759del
|
p.Pro253LeufsTer146
|
- | 4.0 |
|
B | |
| 18359 | chr1 | 26697160 | CCCT | C |
c.763_765del
|
p.Ser256del
|
- | 3.0 |
|
B | |
| 24 | chr1 | 26697168 | CA | C |
c.766del
|
p.Ser256AlafsTer107
|
- | 4.0 |
|
S | |
| 12965 | chr1 | 26697185 | C | A |
c.782C>A
|
p.Ser261Ter
|
4.0 |
|
B | ||
| 33535 | chr1 | 26697208 | C | T |
c.805C>T
|
p.Gln269Ter
|
- | 4.0 |
|
B | |
| 25483 | chr1 | 26697232 | GGCGGCCCCTCC | G |
c.836_846del
|
p.Pro279ArgfsTer117
|
- | 4.0 |
|
B | |
| 6125 | chr1 | 26697339 | CG | C |
c.941del
|
p.Gly314AlafsTer49
|
4.0 |
|
B | ||
| 2087 | chr1 | 26697417 | GGCTGCGGCGGCGGCA | G |
c.1029_1043del
|
p.Ala345_Ala349del
|
2.0 |
|
B | ||
| 20938 | chr1 | 26697423 | GGCGGCGGCAGCT | G |
c.1029_1040del
|
p.Ala346_Ala349del
|
3.0 |
|
B |