Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6868 | chr5 | 23527360 | C | A |
c.2272C>A
|
p.Arg758Ser
|
3.0 |
|
B | ||
| 12683 | chr5 | 23527360 | C | T |
c.2272C>T
|
p.Arg758Cys
|
- | 3.0 |
|
B | |
| 1918 | chr5 | 23527371 | ACACCTCCTCAG | A |
c.2284_2294del
|
p.His762ThrfsTer21
|
- | 3.0 |
|
B | |
| 10501 | chr5 | 23527394 | C | G |
c.2306C>G
|
p.Thr769Arg
|
3.0 |
|
B | ||
| 2832 | chr5 | 23527455 | AAACCTCCTC | A |
c.2369_2377del
|
p.Asn790_Leu792del
|
- | 3.0 |
|
B | |
| 1290 | chr5 | 23527487 | G | T |
c.2399G>T
|
p.Gly800Val
|
- | 3.0 |
|
B | |
| 4595 | chr5 | 23527495 | C | A |
c.2407C>A
|
p.Pro803Thr
|
- | 3.0 |
|
B | |
| 5864 | chr5 | 23527530 | CAATAAGTCACACCTCCTCA | C |
c.2443_2461del
|
p.Asn815AspfsTer118
|
- | 3.0 |
|
B | |
| 2867 | chr5 | 23527612 | C | A |
c.2524C>A
|
p.Arg842Ser
|
3.0 |
|
B | ||
| 2668 | chr5 | 23527698 | C | A |
c.2610C>A
|
p.Ser870Arg
|
3.0 |
|
B | ||
| 2669 | chr5 | 23527701 | T | TGAGTCAAACCTCCTC |
c.2613_2614insGAGTCAAACCTCCTC
|
p.Asp871_Arg872insGluSerAsnLeuLeu
|
- | 3.0 |
|
B | |
| 21304 | chr5 | 24487688 | C | A |
c.2342G>T
|
p.Gly781Val
|
- | 3.0 |
|
B | |
| 32016 | chr5 | 24487797 | C | A |
c.2233G>T
|
p.Ala745Ser
|
- | 3.0 |
|
B | |
| 30535 | chr5 | 24487812 | C | T |
c.2218G>A
|
p.Gly740Arg
|
- | 3.0 |
|
B | |
| 19191 | chr5 | 24487884 | C | A |
c.2146G>T
|
p.Glu716Ter
|
- | 4.0 |
|
B | |
| 25050 | chr5 | 24487919 | G | A |
c.2111C>T
|
p.Ala704Val
|
- | 3.0 |
|
B | |
| 18640 | chr5 | 24487968 | G | A |
c.2062C>T
|
p.Arg688Ter
|
- | 4.0 |
|
B | |
| 27137 | chr5 | 24487983 | C | T |
c.2047G>A
|
p.Glu683Lys
|
- | 3.0 |
|
B | |
| 4880 | chr5 | 24488055 | C | A |
c.1975G>T
|
p.Asp659Tyr
|
- | 3.0 |
|
B | |
| 18032 | chr5 | 24488109 | C | CT |
c.1920dup
|
p.Glu641ArgfsTer18
|
- | 4.0 |
|
B |