Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 24948 | chr19 | 1219337 | G | T |
c.388G>T
|
p.Glu130Ter
|
4.5 |
|
B | ||
| 2503 | chr19 | 1220378 | TC | T |
c.471del
|
p.Cys158ValfsTer3
|
- | 4.0 |
|
B | |
| 6563 | chr19 | 1220451 | C | A |
c.543C>A
|
p.Asn181Lys
|
3.5 |
|
B | ||
| 2623 | chr19 | 1220496 | C | T |
c.588C>T
|
p.Gly196=
|
2.0 |
|
B | ||
| 21340 | chr19 | 1220503 | G | T |
c.595G>T
|
p.Glu199Ter
|
5.0 |
|
B | ||
| 28605 | chr19 | 1220567 | CGGCACCGCCACA | C |
c.598-8_601del
|
p.?
|
- | 4.0 |
|
B | |
| 7774 | chr19 | 1220571 | ACCGCCACAGGCACTGCACCCGTTC | A |
c.598-9_612del
|
p.?
|
- | 4.0 |
|
B | |
| 4879 | chr19 | 1220630 | C | T |
c.647C>T
|
p.Ser216Phe
|
3.0 |
|
B | ||
| 3015 | chr19 | 1220650 | G | A |
c.667G>A
|
p.Glu223Lys
|
3.0 |
|
B | ||
| 21558 | chr19 | 1220660 | A | G |
c.677A>G
|
p.Asn226Ser
|
- | 3.0 |
|
B | |
| 5947 | chr19 | 1220677 | TCC | T |
c.695_696del
|
p.Ser232TrpfsTer33
|
- | 4.0 |
|
B | |
| 15501 | chr19 | 1220693 | A | T |
c.710A>T
|
p.Asp237Val
|
- | 3.0 |
|
B | |
| 2153 | chr19 | 1220711 | TCACCCTGTAAGTGCCCCGCCCCC | T |
c.730_734+18del
|
p.?
|
- | 4.0 |
|
B | |
| 5379 | chr19 | 1220718 | G | A |
c.734+1G>A
|
p.?
|
- | 5.0 |
|
B | |
| 23169 | chr19 | 1221231 | T | TAA |
c.753_754insAA
|
p.Leu252AsnfsTer36
|
- | 4.0 |
|
B | |
| 6410 | chr19 | 1221231 | TCTGTACCCCTTCGAAGGGGA | T |
c.755_774del
|
p.Leu252GlnfsTer7
|
- | 4.0 |
|
B | |
| 6377 | chr19 | 1221237 | C | A |
c.759C>A
|
p.Tyr253Ter
|
5.0 |
|
B | ||
| 26129 | chr19 | 1221282 | GA | G |
c.806del
|
p.Lys269ArgfsTer18
|
4.0 |
|
B | ||
| 23663 | chr19 | 1221314 | G | GC |
c.842dup
|
p.Leu282AlafsTer3
|
5.0 |
|
B | ||
| 3934 | chr19 | 1221314 | GC | G |
c.842del
|
p.Pro281ArgfsTer6
|
4.5 |
|
B |