Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 34507 | chr6 | 73595109 | C | T |
c.1456G>A
|
p.Ala486Thr
|
- | 3.0 |
|
B | |
| 19598 | chr6 | 79201742 | GA | G |
c.355-17del
|
-
|
1.0 |
|
B | ||
| 17548 | chr6 | 80042179 | GA | G |
c.2560del
|
p.Arg854GlyfsTer39
|
3.0 |
|
B | ||
| 16099 | chr6 | 82366897 | TA | T |
c.*687del
|
-
|
2.0 |
|
B | ||
| 19465 | chr6 | 84186514 | CA | C |
c.1218del
|
p.Phe406LeufsTer8
|
3.0 |
|
B | ||
| 21858 | chr6 | 85450145 | TC | T |
c.10del
|
p.Arg4GlufsTer102
|
- | 3.0 |
|
B | |
| 28955 | chr6 | 85450158 | C | G |
c.19C>G
|
p.Arg7Gly
|
- | 3.0 |
|
B | |
| 28954 | chr6 | 85450158 | C | T |
c.19C>T
|
p.Arg7Trp
|
- | 3.0 |
|
B | |
| 8303 | chr6 | 85450169 | G | A |
c.30G>A
|
p.Ala10=
|
- | 3.0 |
|
B | |
| 25535 | chr6 | 85450319 | C | T |
c.180C>T
|
p.Gly60=
|
3.0 |
|
B | ||
| 32338 | chr6 | 85467066 | G | A |
c.346G>A
|
p.Gly116Arg
|
- | 3.0 |
|
B | |
| 34284 | chr6 | 85487333 | A | C |
c.950-2A>C
|
p.?
|
- | 3.0 |
|
B | |
| 31269 | chr6 | 85487491 | T | C |
c.1104+2T>C
|
p.?
|
- | 3.0 |
|
B | |
| 15047 | chr6 | 85491993 | T | G |
c.1377T>G
|
p.Tyr459Ter
|
- | 3.0 |
|
B | |
| 13787 | chr6 | 85493849 | G | C |
c.1570G>C
|
p.Asp524His
|
3.0 |
|
B | ||
| 13788 | chr6 | 85493946 | G | A |
c.1667G>A
|
p.Gly556Glu
|
- | 3.0 |
|
B | |
| 13789 | chr6 | 85493949 | G | A |
c.1670G>A
|
p.Ser557Asn
|
- | 3.0 |
|
B | |
| 2783 | chr6 | 89081111 | C | T |
c.217C>T
|
p.Arg73Cys
|
- | 3.0 |
|
B | |
| 30714 | chr6 | 89083844 | TAAAC | T |
c.634_637del
|
p.Asn212AspfsTer10
|
- | 3.0 |
|
B | |
| 23269 | chr6 | 89083914 | C | A |
c.702C>A
|
p.Asn234Lys
|
- | 3.0 |
|
B |