Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7479 | chr6 | 30704388 | A | C |
c.4795T>G
|
p.Cys1599Gly
|
3.0 |
|
B | ||
| 32080 | chr6 | 30704586 | C | T |
c.4597G>A
|
p.Ala1533Thr
|
3.0 |
|
B | ||
| 12267 | chr6 | 30704711 | G | A |
c.4472C>T
|
p.Pro1491Leu
|
- | 3.0 |
|
B | |
| 12270 | chr6 | 30704712 | G | A |
c.4471C>T
|
p.Pro1491Ser
|
- | 3.0 |
|
B | |
| 11869 | chr6 | 30704748 | C | T |
c.4435G>A
|
p.Asp1479Asn
|
3.0 |
|
B | ||
| 11870 | chr6 | 30704750 | G | T |
c.4433C>A
|
p.Thr1478Lys
|
3.0 |
|
B | ||
| 6843 | chr6 | 30704821 | C | A |
c.4362G>T
|
p.Glu1454Asp
|
3.0 |
|
B | ||
| 11871 | chr6 | 30704844 | T | G |
c.4339A>C
|
p.Thr1447Pro
|
3.0 |
|
B | ||
| 25029 | chr6 | 30704859 | C | G |
c.4324G>C
|
p.Val1442Leu
|
- | 3.0 |
|
B | |
| 13571 | chr6 | 30705182 | A | G |
c.4001T>C
|
p.Ile1334Thr
|
2.0 |
|
B | ||
| 34588 | chr6 | 30705236 | A | C |
c.3947T>G
|
p.Met1316Arg
|
3.0 |
|
B | ||
| 26034 | chr6 | 30705308 | C | T |
c.3875G>A
|
p.Arg1292Gln
|
3.0 |
|
B | ||
| 26035 | chr6 | 30705459 | G | T |
c.3724C>A
|
p.Pro1242Thr
|
3.0 |
|
B | ||
| 20872 | chr6 | 30705467 | G | C |
c.3716C>G
|
p.Thr1239Ser
|
3.0 |
|
B | ||
| 11749 | chr6 | 30705582 | T | G |
c.3601A>C
|
p.Thr1201Pro
|
1.0 |
|
B | ||
| 10747 | chr6 | 30705594 | T | G |
c.3589A>C
|
p.Lys1197Gln
|
- | 3.0 |
|
B | |
| 2910 | chr6 | 30705608 | C | T |
c.3575G>A
|
p.Ser1192Asn
|
3.0 |
|
B | ||
| 2911 | chr6 | 30705626 | A | G |
c.3557T>C
|
p.Val1186Ala
|
2.5 |
|
B | ||
| 4148 | chr6 | 30705654 | G | A |
c.3529C>T
|
p.Pro1177Ser
|
3.0 |
|
B | ||
| 1356 | chr6 | 30705752 | T | G |
c.3431A>C
|
p.Gln1144Pro
|
3.0 |
|
B |