Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32185 | chr5 | 38921635 | A | G |
c.1606A>G
|
p.Ile536Val
|
3.0 |
|
B | ||
| 27642 | chr5 | 38921669 | G | A |
c.1640G>A
|
p.Trp547Ter
|
- | 3.0 |
|
B | |
| 15656 | chr5 | 38921758 | G | A |
c.1729G>A
|
p.Val577Ile
|
- | 3.0 |
|
B | |
| 18093 | chr5 | 38925293 | T | C |
c.2134T>C
|
p.Phe712Leu
|
- | 3.0 |
|
B | |
| 28284 | chr5 | 38925345 | C | T |
c.2186C>T
|
p.Thr729Met
|
3.0 |
|
B | ||
| 28749 | chr5 | 38933214 | TCCCTGGGAG | T |
-
c.2711_2719del
|
-
p.Ser904_Glu907delinsTer
|
- | 3.0 |
|
B | |
| 20527 | chr5 | 38933221 | G | A |
-
c.2717G>A
|
-
p.Gly906Glu
|
- | 3.0 |
|
B | |
| 14091 | chr5 | 38933301 | C | G |
-
c.2797C>G
|
-
p.Pro933Ala
|
- | 3.0 |
|
B | |
| 26799 | chr5 | 38942383 | G | A |
c.5053-5C>T
|
-
|
- | 3.0 |
|
B | |
| 26264 | chr5 | 38942391 | T | C |
c.5053-13A>G
|
-
|
3.0 |
|
B | ||
| 10898 | chr5 | 38942825 | A | T |
c.5052+8T>A
|
-
|
- | 3.0 |
|
B | |
| 10899 | chr5 | 38942826 | T | G |
c.5052+7A>C
|
-
|
- | 3.0 |
|
B | |
| 28432 | chr5 | 38942890 | G | GA |
c.4994dup
|
p.Arg1666GlnfsTer22
|
- | 3.0 |
|
B | |
| 20311 | chr5 | 38944427 | A | G |
c.4913+19T>C
|
-
|
- | 3.0 |
|
B | |
| 14739 | chr5 | 38944588 | G | A |
c.4790-19C>T
|
-
|
- | 3.0 |
|
B | |
| 26482 | chr5 | 38944948 | G | A |
c.4754C>T
|
p.Ser1585Leu
|
3.0 |
|
B | ||
| 15124 | chr5 | 38944967 | C | T |
c.4735G>A
|
p.Gly1579Arg
|
- | 3.0 |
|
B | |
| 788 | chr5 | 38945054 | G | A |
c.4648C>T
|
p.Pro1550Ser
|
- | 3.0 |
|
B | |
| 11502 | chr5 | 38945607 | C | T |
c.4517G>A
|
p.Ser1506Asn
|
- | 3.0 |
|
B | |
| 19584 | chr5 | 38947263 | C | A |
c.4314+1G>T
|
p.?
|
- | 3.0 |
|
B |