Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10553 | chr5 | 112819167 | G | T |
c.1135G>T
|
p.Ala379Ser
|
3.0 |
|
B | ||
| 25808 | chr5 | 112819185 | G | T |
c.1153G>T
|
p.Ala385Ser
|
- | 3.0 |
|
B | |
| 243 | chr5 | 112819270 | T | TACGCGCTTA |
c.1239_1247dup
|
p.Ala415_Tyr416insTer
|
- | 4.0 |
|
B | |
| 20315 | chr5 | 112819300 | G | T |
c.1268G>T
|
p.Trp423Leu
|
- | 3.0 |
|
B | |
| 10502 | chr5 | 112819301 | G | A |
c.1269G>A
|
p.Trp423Ter
|
- | 4.0 |
|
B | |
| 32335 | chr5 | 112819311 | C | G |
c.1279C>G
|
p.His427Asp
|
- | 3.0 |
|
B | |
| 244 | chr5 | 112819314 | G | T |
c.1282G>T
|
p.Glu428Ter
|
- | 5.0 |
|
A | |
| 6109 | chr5 | 112819318 | CA | C |
c.1287del
|
p.Gly430AlafsTer24
|
- | 4.0 |
|
B | |
| 16888 | chr5 | 112819345 | G | C |
c.1312+1G>C
|
p.?
|
- | 4.0 |
|
B | |
| 14404 | chr5 | 112819347 | A | T |
c.1312+3A>T
|
-
|
- | 3.0 |
|
B | |
| 13331 | chr5 | 112821914 | A | ATCAGATCT |
c.1332_1339dup
|
p.Cys447PhefsTer10
|
- | 4.0 |
|
B | |
| 13376 | chr5 | 112821942 | AATGAAACTTTCATTTG | A |
c.1365_1380del
|
p.Leu456SerfsTer6
|
- | 4.0 |
|
B | |
| 34676 | chr5 | 112827105 | TA | T |
c.1409-2del
|
p.?
|
- | 4.0 |
|
B | |
| 26379 | chr5 | 112827128 | G | T |
c.1429G>T
|
p.Glu477Ter
|
4.5 |
|
B | ||
| 21186 | chr5 | 112827194 | C | T |
c.1495C>T
|
p.Arg499Ter
|
4.5 |
|
B | ||
| 245 | chr5 | 112827199 | T | A |
c.1500T>A
|
p.Tyr500Ter
|
4.67 |
|
A | ||
| 246 | chr5 | 112827247 | G | T |
c.1548G>T
|
p.Lys516Asn
|
- | 4.33 |
|
A | |
| 10941 | chr5 | 112827248 | G | A |
c.1548+1G>A
|
p.?
|
4.5 |
|
B | ||
| 8431 | chr5 | 112827921 | A | G |
c.1549-8A>G
|
-
|
- | 3.5 |
|
B | |
| 3789 | chr5 | 112827978 | T | TA |
c.1602dup
|
p.Ser535IlefsTer2
|
- | 4.0 |
|
B |