Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6267 | chr1 | 202011151 | T | G |
c.15T>G
|
p.Cys5Trp
|
- | 3.0 |
|
B | |
| 2517 | chr1 | 202011157 | T | G |
c.21T>G
|
p.Ile7Met
|
- | 3.0 |
|
B | |
| 1112 | chr1 | 202011223 | T | TCC |
c.91_92dup
|
p.Ala32LeufsTer12
|
- | 4.0 |
|
B | |
| 35492 | chr1 | 202011231 | C | T |
c.95C>T
|
p.Ala32Val
|
3.0 |
|
B | ||
| 32486 | chr1 | 202011249 | A | T |
c.113A>T
|
p.Asp38Val
|
- | 3.0 |
|
B | |
| 28400 | chr1 | 202011288 | T | TG |
c.154dup
|
p.Glu52GlyfsTer40
|
- | 4.0 |
|
B | |
| 6024 | chr1 | 202011298 | A | AGGTG |
c.163+3_163+6dup
|
-
|
- | 3.5 |
|
B | |
| 34247 | chr1 | 202011991 | C | CT |
c.199dup
|
p.Trp67LeufsTer25
|
- | 4.0 |
|
B | |
| 33567 | chr1 | 202012017 | G | A |
c.224G>A
|
p.Trp75Ter
|
- | 4.0 |
|
B | |
| 9489 | chr1 | 202012039 | G | GA |
c.248dup
|
p.Asn83LysfsTer9
|
- | 4.0 |
|
B | |
| 6648 | chr1 | 202012046 | TAC | T |
c.254_255del
|
p.Tyr85Ter
|
- | 4.0 |
|
B | |
| 10033 | chr1 | 202012074 | G | A |
c.281G>A
|
p.Arg94Gln
|
3.0 |
|
B | ||
| 11378 | chr1 | 202012086 | A | AT |
c.294dup
|
p.Gly99TrpfsTer10
|
- | 4.0 |
|
B | |
| 19947 | chr1 | 202012124 | C | T |
c.331C>T
|
p.Arg111Cys
|
3.0 |
|
B | ||
| 3977 | chr1 | 202012180 | T | C |
c.385+2T>C
|
p.?
|
- | 4.0 |
|
B | |
| 14582 | chr1 | 202012331 | C | T |
c.386-13C>T
|
-
|
- | 3.0 |
|
B | |
| 30216 | chr1 | 202012332 | C | T |
c.386-12C>T
|
-
|
- | 3.0 |
|
B | |
| 7101 | chr1 | 202012361 | G | T |
c.403G>T
|
p.Glu135Ter
|
- | 4.0 |
|
B | |
| 15536 | chr1 | 202012380 | A | AG |
c.423dup
|
p.Leu142AlafsTer19
|
- | 4.0 |
|
B | |
| 21051 | chr1 | 202012436 | G | A |
c.478G>A
|
p.Asp160Asn
|
- | 3.5 |
|
B |