Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6605 | chr6 | 73518065 | A | G |
c.1229T>C
|
p.Met410Thr
|
3.0 |
|
B | ||
| 3099 | chr6 | 73518093 | T | C |
c.1201A>G
|
p.Ile401Val
|
3.0 |
|
B | ||
| 35677 | chr6 | 73518128 | TCTTC | T |
c.1162_1165del
|
p.Glu388MetfsTer6
|
- | 3.0 |
|
B | |
| 35678 | chr6 | 73518136 | CTTTT | C |
c.1154_1157del
|
p.Lys385SerfsTer9
|
- | 3.0 |
|
B | |
| 35679 | chr6 | 73518142 | ACCAG | A |
c.1148_1151del
|
p.Ser383LeufsTer11
|
- | 3.0 |
|
B | |
| 35680 | chr6 | 73518148 | ACGGCGATCAATC | A |
c.1134_1145del
|
p.Lys378_Arg382delinsAsn
|
- | 3.0 |
|
B | |
| 6535 | chr6 | 73518231 | CG | C |
c.1062del
|
p.Ser354ArgfsTer22
|
- | 3.0 |
|
B | |
| 27317 | chr6 | 73518283 | A | G |
c.1030-19T>C
|
-
|
1.0 |
|
B | ||
| 10723 | chr6 | 73518473 | G | A |
c.910C>T
|
p.Pro304Ser
|
- | 3.0 |
|
B | |
| 20452 | chr6 | 73518629 | T | C |
c.773-19A>G
|
-
|
3.0 |
|
B | ||
| 28270 | chr6 | 73518695 | T | C |
c.772+3A>G
|
-
|
3.0 |
|
B | ||
| 2670 | chr6 | 73518734 | A | AGG |
c.734_735dup
|
p.Leu246ProfsTer45
|
- | 3.0 |
|
B | |
| 33624 | chr6 | 73519103 | G | A |
c.450C>T
|
p.Val150=
|
3.0 |
|
B | ||
| 29081 | chr6 | 73519129 | T | C |
c.424A>G
|
p.Thr142Ala
|
- | 3.0 |
|
B | |
| 28751 | chr6 | 73519420 | C | T |
c.241G>A
|
p.Glu81Lys
|
- | 3.0 |
|
B | |
| 6681 | chr6 | 73519471 | TCA | T |
c.188_189del
|
p.Leu63GlnfsTer3
|
- | 3.0 |
|
B | |
| 9327 | chr6 | 73519909 | C | T |
c.118G>A
|
p.Glu40Lys
|
- | 3.0 |
|
B | |
| 24040 | chr6 | 73519942 | AG | A |
c.84del
|
p.Tyr29IlefsTer35
|
- | 3.0 |
|
B | |
| 32517 | chr6 | 73520012 | C | G |
c.15G>C
|
p.Lys5Asn
|
- | 3.0 |
|
B | |
| 8775 | chr6 | 73520013 | T | C |
c.14A>G
|
p.Lys5Arg
|
- | 3.0 |
|
B |