Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 26279 | chr1 | 26779381 | C | A |
c.5483C>A
|
p.Ser1828Ter
|
- | 4.0 |
|
B | |
| 16224 | chr1 | 26779381 | C | G |
c.5483C>G
|
p.Ser1828Ter
|
- | 4.0 |
|
B | |
| 4129 | chr1 | 26779439 | T | TG |
c.5548dup
|
p.Asp1850GlyfsTer4
|
4.0 |
|
B | ||
| 33872 | chr1 | 26779439 | TG | T |
c.5548del
|
p.Asp1850ThrfsTer33
|
- | 4.0 |
|
B | |
| 25448 | chr1 | 26779474 | TC | T |
c.5577del
|
p.Phe1859LeufsTer24
|
- | 4.0 |
|
B | |
| 3239 | chr1 | 26779474 | TCGAGA | T |
c.5577_5581del
|
p.Phe1859LeufsTer40
|
- | 4.0 |
|
B | |
| 23417 | chr1 | 26779488 | G | T |
c.5590G>T
|
p.Glu1864Ter
|
- | 4.0 |
|
B | |
| 33336 | chr1 | 26779578 | C | T |
c.5680C>T
|
p.Gln1894Ter
|
- | 4.0 |
|
B | |
| 30056 | chr1 | 26779671 | G | A |
c.5773G>A
|
p.Asp1925Asn
|
- | 3.0 |
|
B | |
| 5812 | chr1 | 26779732 | C | T |
c.5834C>T
|
p.Pro1945Leu
|
- | 3.0 |
|
B | |
| 14569 | chr1 | 26779788 | G | T |
c.5890G>T
|
p.Glu1964Ter
|
- | 4.0 |
|
B | |
| 33247 | chr1 | 26779907 | AC | A |
c.6010del
|
p.His2004ThrfsTer11
|
- | 4.0 |
|
B | |
| 1721 | chr1 | 26779942 | TC | T |
c.6046del
|
p.Leu2016CysfsTer14
|
- | 4.0 |
|
B | |
| 7184 | chr1 | 26780007 | C | T |
c.6109C>T
|
p.Gln2037Ter
|
- | 4.0 |
|
B | |
| 27307 | chr1 | 26780054 | CT | C |
c.6158del
|
p.Leu2053TrpfsTer82
|
- | 4.0 |
|
B | |
| 7268 | chr1 | 26780157 | G | A |
c.6259G>A
|
p.Gly2087Arg
|
3.5 |
|
B | ||
| 32181 | chr1 | 26780158 | G | A |
c.6260G>A
|
p.Gly2087Glu
|
- | 3.0 |
|
B | |
| 95 | chr1 | 26780185 | C | G |
c.6287C>G
|
p.Ser2096Ter
|
- | 4.67 |
|
A | |
| 6552 | chr1 | 26780370 | C | T |
c.6472C>T
|
p.Arg2158Ter
|
- | 4.0 |
|
B | |
| 7411 | chr1 | 26780409 | CT | C |
c.6512del
|
p.Leu2171ArgfsTer29
|
- | 4.0 |
|
B |