Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22233 | chr13 | 102872231 | G | C |
c.2712G>C
|
p.Lys904Asn
|
3.0 |
|
B | ||
| 19735 | chr13 | 102872261 | GA | G |
c.2751del
|
p.Lys917AsnfsTer65
|
4.0 |
|
B | ||
| 32474 | chr13 | 102873247 | A | G |
c.2880-12A>G
|
-
|
3.0 |
|
B | ||
| 11594 | chr13 | 102873358 | C | A |
c.2964+15C>A
|
-
|
- | 3.0 |
|
B | |
| 24792 | chr13 | 102875263 | TACTTGTCTGATTTATTATTATTATTCTTTTGTTATTTTTTTA | T |
c.2965-43_2965-2del
|
p.?
|
- | 3.5 |
|
B | |
| 32960 | chr13 | 102875629 | C | G |
c.3287C>G
|
p.Ser1096Ter
|
- | 4.0 |
|
B | |
| 10686 | chr13 | 102875839 | G | A |
c.3497G>A
|
p.Arg1166Lys
|
- | 3.0 |
|
B | |
| 21461 | chr13 | 109782039 | C | T |
c.4012+3G>A
|
-
|
3.0 |
|
B | ||
| 20079 | chr13 | 109782040 | A | G |
c.4012+2T>C
|
p.?
|
3.0 |
|
B | ||
| 1067 | chr13 | 109782182 | C | A |
c.3872G>T
|
p.Gly1291Val
|
- | 3.0 |
|
B | |
| 15466 | chr13 | 109782206 | G | A |
c.3848C>T
|
p.Ser1283Phe
|
- | 3.0 |
|
B | |
| 2481 | chr13 | 109782224 | TGAG | T |
c.3827_3829del
|
p.Pro1276del
|
- | 3.0 |
|
B | |
| 16978 | chr13 | 109782267 | C | T |
c.3787G>A
|
p.Gly1263Arg
|
3.0 |
|
B | ||
| 7319 | chr13 | 109782328 | C | G |
c.3726G>C
|
p.Glu1242Asp
|
- | 3.0 |
|
B | |
| 25556 | chr13 | 109782490 | G | A |
c.3564C>T
|
p.Gly1188=
|
3.0 |
|
B | ||
| 11888 | chr13 | 109782604 | C | T |
c.3450G>A
|
p.Glu1150=
|
- | 3.0 |
|
B | |
| 9420 | chr13 | 109782745 | C | G |
c.3309G>C
|
p.Ser1103=
|
- | 3.0 |
|
B | |
| 22369 | chr13 | 109782766 | G | A |
c.3288C>T
|
p.Ala1096=
|
- | 3.0 |
|
B | |
| 30157 | chr13 | 109782781 | C | CG |
c.3272dup
|
p.Lys1092GlufsTer233
|
3.0 |
|
B | ||
| 3029 | chr13 | 109782789 | C | T |
c.3265G>A
|
p.Ala1089Thr
|
3.0 |
|
B |