Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5909 | chr6 | 117356913 | C | T |
c.3842G>A
|
p.Arg1281His
|
3.0 |
|
B | ||
| 16507 | chr6 | 117356924 | G | A |
c.3840-9C>T
|
-
|
3.0 |
|
B | ||
| 19601 | chr6 | 117356924 | GA | G |
c.3840-10del
|
-
|
3.0 |
|
B | ||
| 3374 | chr6 | 117357918 | T | C |
c.3725A>G
|
p.Asn1242Ser
|
- | 3.0 |
|
B | |
| 8181 | chr6 | 117357950 | C | A |
c.3693G>T
|
p.Arg1231Ser
|
- | 3.0 |
|
B | |
| 25287 | chr6 | 117359863 | A | C |
c.3579T>G
|
p.Tyr1193Ter
|
- | 3.0 |
|
B | |
| 34896 | chr6 | 117359957 | A | T |
c.3485T>A
|
p.Leu1162Ter
|
- | 3.0 |
|
B | |
| 2992 | chr6 | 117359997 | G | A |
c.3445C>T
|
p.Pro1149Ser
|
- | 3.0 |
|
B | |
| 30482 | chr6 | 117360348 | T | C |
c.3424A>G
|
p.Thr1142Ala
|
- | 3.0 |
|
B | |
| 20553 | chr6 | 117360417 | G | A |
c.3367-12C>T
|
-
|
- | 3.0 |
|
B | |
| 14754 | chr6 | 117362798 | T | G |
c.3171A>C
|
p.Glu1057Asp
|
- | 3.0 |
|
B | |
| 15879 | chr6 | 117362850 | T | A |
c.3119A>T
|
p.Glu1040Val
|
- | 3.0 |
|
B | |
| 29019 | chr6 | 117365582 | T | A |
c.2957A>T
|
p.Lys986Met
|
- | 3.0 |
|
B | |
| 17289 | chr6 | 117365755 | C | CA |
c.2798-15dup
|
-
|
3.0 |
|
B | ||
| 26606 | chr6 | 117366064 | G | A |
c.2797+12C>T
|
-
|
- | 3.0 |
|
B | |
| 35165 | chr6 | 117366207 | C | G |
c.2666G>C
|
p.Arg889Pro
|
- | 3.0 |
|
B | |
| 31341 | chr6 | 117366222 | A | G |
c.2651T>C
|
p.Met884Thr
|
- | 3.0 |
|
B | |
| 10049 | chr6 | 117379066 | C | T |
c.2575G>A
|
p.Gly859Arg
|
- | 3.0 |
|
B | |
| 32697 | chr6 | 117379129 | C | T |
c.2512G>A
|
p.Gly838Arg
|
- | 3.0 |
|
B | |
| 27086 | chr6 | 117385790 | C | T |
c.2182G>A
|
p.Gly728Arg
|
3.0 |
|
B |