Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 12983 | chr13 | 48456328 | C | CT |
c.1942dup
|
p.Ser648PhefsTer5
|
- | 4.0 |
|
B | |
| 5593 | chr13 | 48456342 | T | TA |
c.1959dup
|
p.Val654SerfsTer14
|
5.0 |
|
B | ||
| 34309 | chr13 | 48456351 | T | G |
c.1960+2T>G
|
p.?
|
4.5 |
|
B | ||
| 15633 | chr13 | 48456352 | TAG | T |
c.1960+4_1960+5del
|
-
|
- | 3.5 |
|
B | |
| 10452 | chr13 | 48456354 | G | C |
c.1960+5G>C
|
-
|
4.0 |
|
B | ||
| 57 | chr13 | 48459708 | C | T |
c.1981C>T
|
p.Arg661Trp
|
3.0 |
|
B | ||
| 15233 | chr13 | 48459715 | A | G |
c.1988A>G
|
p.Asn663Ser
|
2.0 |
|
B | ||
| 1675 | chr13 | 48459753 | TTAGAACATATCA | T |
c.2028_2039del
|
p.Leu676_Ile680delinsPhe
|
- | 3.5 |
|
B | |
| 54 | chr13 | 48459794 | G | C |
c.2067G>C
|
p.Gln689His
|
- | 3.0 |
|
B | |
| 24457 | chr13 | 48459796 | A | G |
c.2069A>G
|
p.Asn690Ser
|
3.0 |
|
B | ||
| 29185 | chr13 | 48459798 | G | T |
c.2071G>T
|
p.Glu691Ter
|
- | 4.5 |
|
B | |
| 10415 | chr13 | 48459807 | CTCA | C |
c.2082_2084del
|
p.Met695del
|
- | 3.0 |
|
B | |
| 15 | chr13 | 48459808 | TCAT | A |
c.2081_2084delinsA
|
p.Leu694_His695delinsGln
|
- | 3.0 |
|
B | |
| 21880 | chr13 | 48459831 | CAAGT | C |
c.2106+2_2106+5del
|
p.?
|
- | 4.0 |
|
B | |
| 29346 | chr13 | 48463715 | T | G |
c.2107-16T>G
|
-
|
- | 3.0 |
|
B | |
| 1408 | chr13 | 48463730 | G | C |
c.2107-1G>C
|
p.?
|
4.5 |
|
B | ||
| 33355 | chr13 | 48463730 | GATTATGATGTGTTC | G |
c.2107_2120del
|
p.Ile703HisfsTer13
|
- | 4.0 |
|
B | |
| 11052 | chr13 | 48463756 | T | A |
c.2132T>A
|
p.Ile711Lys
|
- | 3.5 |
|
B | |
| 34778 | chr13 | 48463768 | A | T |
c.2144A>T
|
p.Lys715Met
|
- | 3.0 |
|
B | |
| 33577 | chr13 | 48463786 | TC | T |
c.2163del
|
p.Phe721LeufsTer5
|
- | 4.0 |
|
B |