Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 35315 | chr5 | 112837560 | C | A |
c.1966C>A
|
p.Leu656Ile
|
- | 3.0 |
|
B | |
| 11700 | chr5 | 112837561 | TAA | T |
c.1968_1969del
|
p.Asn659GlnfsTer14
|
4.0 |
|
B | ||
| 23630 | chr5 | 112837621 | TAGTC | T |
c.2031_2034del
|
p.Ser678MetfsTer39
|
4.5 |
|
B | ||
| 29779 | chr5 | 112837627 | GT | G |
c.2034del
|
p.Ser678ArgfsTer40
|
- | 4.5 |
|
B | |
| 27759 | chr5 | 112837628 | TA | T |
c.2036del
|
p.Asn679MetfsTer39
|
- | 4.0 |
|
B | |
| 28088 | chr5 | 112837789 | AT | A |
c.2196del
|
p.Asn732LysfsTer29
|
- | 4.0 |
|
B | |
| 7152 | chr5 | 112837798 | CG | C |
c.2205del
|
p.Lys736SerfsTer25
|
- | 4.0 |
|
B | |
| 34063 | chr5 | 112837805 | C | G |
c.2211C>G
|
p.Tyr737Ter
|
4.5 |
|
B | ||
| 22225 | chr5 | 112837818 | AT | A |
c.2226del
|
p.Met743CysfsTer18
|
- | 4.0 |
|
B | |
| 28028 | chr5 | 112837825 | C | A |
c.2231C>A
|
p.Ser744Tyr
|
- | 3.0 |
|
B | |
| 27138 | chr5 | 112837825 | C | G |
c.2231C>G
|
p.Ser744Cys
|
- | 3.0 |
|
B | |
| 250 | chr5 | 112837881 | G | T |
c.2287G>T
|
p.Glu763Ter
|
4.67 |
|
A | ||
| 25221 | chr5 | 112837943 | ATC | A |
c.2352_2353del
|
p.His785SerfsTer2
|
- | 4.0 |
|
B | |
| 33200 | chr5 | 112838007 | C | T |
c.2413C>T
|
p.Arg805Ter
|
4.5 |
|
B | ||
| 251 | chr5 | 112838030 | CA | C |
c.2438del
|
p.Asn813IlefsTer7
|
- | 4.0 |
|
B | |
| 21980 | chr5 | 112838078 | TAC | T |
c.2486_2487del
|
p.Thr829SerfsTer14
|
- | 4.5 |
|
B | |
| 35465 | chr5 | 112838101 | C | A |
c.2507C>A
|
p.Ser836Ter
|
- | 4.5 |
|
B | |
| 27760 | chr5 | 112838128 | G | A |
c.2534G>A
|
p.Arg845His
|
2.5 |
|
B | ||
| 252 | chr5 | 112838133 | G | GA |
c.2544dup
|
p.Asp849ArgfsTer2
|
- | 4.67 |
|
A | |
| 253 | chr5 | 112838220 | C | T |
c.2626C>T
|
p.Arg876Ter
|
4.67 |
|
A |