Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 11644 | chr16 | 23690058 | TCCTAATAGCTGCCCTCC | T |
-
c.1811_*15del
|
-
p.Ter604SerfsTer71
|
- | 3.0 |
|
B | |
| 13317 | chr16 | 27437516 | G | A |
c.181G>A
|
p.Glu61Lys
|
3.0 |
|
B | ||
| 35028 | chr16 | 27437544 | C | T |
c.209C>T
|
p.Ser70Leu
|
3.0 |
|
B | ||
| 31293 | chr16 | 27437561 | C | A |
c.226C>A
|
p.His76Asn
|
- | 3.0 |
|
B | |
| 32214 | chr16 | 27444528 | C | G |
c.508-14C>G
|
-
|
- | 3.0 |
|
B | |
| 12841 | chr16 | 27444585 | C | T |
c.551C>T
|
p.Ser184Phe
|
- | 3.0 |
|
B | |
| 20106 | chr16 | 27444591 | TC | T |
c.562del
|
p.Leu188TrpfsTer43
|
- | 3.0 |
|
B | |
| 35606 | chr16 | 27444650 | C | T |
c.616C>T
|
p.Pro206Ser
|
3.0 |
|
B | ||
| 19758 | chr16 | 27445997 | G | GC |
c.786-5dup
|
-
|
- | 3.0 |
|
B | |
| 15366 | chr16 | 27448822 | G | A |
c.1156G>A
|
p.Gly386Arg
|
3.0 |
|
B | ||
| 35059 | chr16 | 27448986 | GC | G |
c.1324del
|
p.Leu442TrpfsTer8
|
- | 3.0 |
|
B | |
| 21331 | chr16 | 27449077 | G | T |
c.1411G>T
|
p.Gly471Ter
|
- | 3.0 |
|
B | |
| 30654 | chr16 | 27449122 | G | A |
c.1456G>A
|
p.Asp486Asn
|
- | 3.0 |
|
B | |
| 3707 | chr16 | 27740894 | A | G |
c.2597A>G
|
p.His866Arg
|
3.0 |
|
B | ||
| 3510 | chr16 | 28063202 | TGGC | T |
c.220_222del
|
p.Ala74del
|
3.0 |
|
B | ||
| 3450 | chr16 | 28112995 | G | A |
c.2060C>T
|
p.Thr687Ile
|
- | 3.0 |
|
B | |
| 24315 | chr16 | 28932486 | C | G |
c.229C>G
|
p.Pro77Ala
|
- | 3.0 |
|
B | |
| 20564 | chr16 | 28932974 | C | T |
c.419C>T
|
p.Ser140Phe
|
3.0 |
|
B | ||
| 21674 | chr16 | 28933066 | C | A |
c.511C>A
|
p.Pro171Thr
|
- | 3.0 |
|
B | |
| 13642 | chr16 | 28933119 | G | A |
c.559+5G>A
|
-
|
- | 3.0 |
|
B |