Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 6656 | chr6 | 117310139 | G | A |
c.6358C>T
|
p.Arg2120Trp
|
3.0 |
|
B | ||
| 1228 | chr6 | 117310252 | G | A |
c.6245C>T
|
p.Ser2082Phe
|
- | 3.0 |
|
B | |
| 7229 | chr6 | 117311036 | T | C |
c.6199A>G
|
p.Met2067Val
|
- | 3.0 |
|
B | |
| 31356 | chr6 | 117311053 | C | G |
c.6182G>C
|
p.Cys2061Ser
|
- | 3.0 |
|
B | |
| 8365 | chr6 | 117311069 | C | G |
c.6166G>C
|
p.Asp2056His
|
- | 3.0 |
|
B | |
| 14327 | chr6 | 117317127 | G | A |
c.6117+16C>T
|
-
|
- | 3.0 |
|
B | |
| 25917 | chr6 | 117317175 | G | C |
c.6085C>G
|
p.Leu2029Val
|
3.0 |
|
B | ||
| 8871 | chr6 | 117317258 | GGAT | G |
c.5999_6001del
|
p.His2000del
|
- | 3.0 |
|
B | |
| 5792 | chr6 | 117318192 | T | A |
c.5983A>T
|
p.Met1995Leu
|
- | 3.0 |
|
B | |
| 26800 | chr6 | 117319852 | C | T |
c.5922+16G>A
|
-
|
3.0 |
|
B | ||
| 29629 | chr6 | 117319853 | G | A |
c.5922+15C>T
|
-
|
1.5 |
|
B | ||
| 12812 | chr6 | 117319999 | G | A |
c.5791C>T
|
p.Leu1931Phe
|
- | 3.0 |
|
B | |
| 35532 | chr6 | 117321403 | G | A |
c.5624-9C>T
|
-
|
3.0 |
|
B | ||
| 4390 | chr6 | 117324413 | C | T |
c.5542G>A
|
p.Asp1848Asn
|
- | 3.0 |
|
B | |
| 4584 | chr6 | 117326355 | C | T |
c.5408G>A
|
p.Gly1803Glu
|
- | 3.0 |
|
B | |
| 31271 | chr6 | 117326406 | G | T |
c.5357C>A
|
p.Thr1786Asn
|
- | 3.0 |
|
B | |
| 35043 | chr6 | 117326411 | C | A |
c.5352G>T
|
p.Lys1784Asn
|
- | 3.0 |
|
B | |
| 462 | chr6 | 117329413 | A | T |
c.5264T>A
|
p.Leu1755Ter
|
3.29 |
|
S | ||
| 12813 | chr6 | 117337213 | C | T |
c.5189G>A
|
p.Gly1730Glu
|
- | 3.0 |
|
B | |
| 9435 | chr6 | 117337325 | A | C |
c.5077T>G
|
p.Phe1693Val
|
- | 3.0 |
|
B |