Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 32060 | chr6 | 123337685 | TG | T |
c.1370-17del
|
-
|
- | 3.0 |
|
B | |
| 33725 | chr6 | 123352527 | A | AT |
c.1369+11dup
|
-
|
2.0 |
|
B | ||
| 19470 | chr6 | 123352527 | AT | A |
c.1369+11del
|
-
|
3.0 |
|
B | ||
| 14728 | chr6 | 123366118 | C | T |
c.1321+17G>A
|
-
|
2.0 |
|
B | ||
| 12164 | chr6 | 123366162 | C | T |
c.1294G>A
|
p.Glu432Lys
|
3.0 |
|
B | ||
| 21417 | chr6 | 123375629 | G | T |
c.1249C>A
|
p.Pro417Thr
|
- | 3.0 |
|
B | |
| 27129 | chr6 | 123377715 | C | T |
c.1246+1G>A
|
p.?
|
- | 3.0 |
|
B | |
| 20021 | chr6 | 123377846 | A | C |
c.1219+20T>G
|
-
|
- | 3.0 |
|
B | |
| 15348 | chr6 | 123377848 | G | A |
c.1219+18C>T
|
-
|
- | 3.0 |
|
B | |
| 35478 | chr6 | 123382167 | T | C |
c.1136-20A>G
|
-
|
- | 3.0 |
|
B | |
| 30121 | chr6 | 123388503 | G | A |
c.1135+19C>T
|
-
|
- | 3.0 |
|
B | |
| 12726 | chr6 | 123388537 | C | T |
c.1120G>A
|
p.Asp374Asn
|
- | 3.0 |
|
B | |
| 24996 | chr6 | 123388551 | G | T |
c.1106C>A
|
p.Ala369Glu
|
- | 3.0 |
|
B | |
| 20329 | chr6 | 123438063 | CT | C |
c.1050del
|
p.Glu351SerfsTer13
|
3.0 |
|
B | ||
| 31902 | chr6 | 123438114 | C | A |
c.1000G>T
|
p.Asp334Tyr
|
- | 3.0 |
|
B | |
| 34849 | chr6 | 123464887 | G | GA |
c.931+18dup
|
-
|
2.0 |
|
B | ||
| 16447 | chr6 | 123464887 | GA | G |
c.931+18del
|
-
|
1.5 |
|
B | ||
| 17826 | chr6 | 123464893 | A | G |
c.931+13T>C
|
-
|
- | 3.0 |
|
B | |
| 21786 | chr6 | 123464979 | T | G |
c.858A>C
|
p.Gln286His
|
- | 3.0 |
|
B | |
| 29178 | chr6 | 123465003 | G | T |
c.854-20C>A
|
-
|
- | 3.0 |
|
B |