Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8436 | chr13 | 32379889 | A | T |
c.9093A>T
|
p.Lys3031Asn
|
- | 3.0 |
|
B | |
| 5247 | chr13 | 32380071 | T | C |
c.9182T>C
|
p.Leu3061Ser
|
- | 3.0 |
|
B | |
| 31870 | chr13 | 32394671 | C | CT |
c.9257-10dup
|
-
|
2.0 |
|
B | ||
| 13459 | chr13 | 32396909 | ACTT | A |
c.9514_9516del
-
|
p.Leu3172del
-
|
- | 3.0 |
|
B | |
| 13460 | chr13 | 32396914 | G | GT |
c.9518_9519insT
-
|
p.Asn3174GlnfsTer2
-
|
- | 4.0 |
|
B | |
| 27880 | chr13 | 32396957 | T | G |
c.9561T>G
-
|
p.Asn3187Lys
-
|
- | 3.0 |
|
B | |
| 14958 | chr13 | 32396970 | T | G |
c.9574T>G
-
|
p.Ser3192Ala
-
|
- | 3.0 |
|
B | |
| 16073 | chr13 | 32398171 | C | T |
c.9658C>T
-
|
p.Pro3220Ser
-
|
3.0 |
|
B | ||
| 4338 | chr13 | 32398254 | GATGACTTCAA | G |
c.9743_9752del
-
|
p.Met3248SerfsTer24
-
|
- | 4.0 |
|
B | |
| 35343 | chr13 | 32398264 | A | C |
c.9751A>C
-
|
p.Lys3251Gln
-
|
- | 3.0 |
|
B | |
| 27881 | chr13 | 32398508 | C | T |
c.9995C>T
-
|
p.Ser3332Phe
-
|
- | 3.0 |
|
B | |
| 29083 | chr13 | 32398692 | A | T |
c.10179A>T
-
|
p.Glu3393Asp
-
|
- | 3.0 |
|
B | |
| 4740 | chr13 | 32648842 | G | A |
c.70G>A
|
p.Asp24Asn
|
- | 3.0 |
|
B | |
| 20078 | chr13 | 32770749 | CA | C |
c.4169del
|
p.Asn1390MetfsTer4
|
3.5 |
|
B | ||
| 12316 | chr13 | 33109874 | T | G |
c.3046A>C
|
p.Arg1016=
|
- | 3.0 |
|
B | |
| 3318 | chr13 | 33823925 | TA | T |
c.244del
|
p.Ile82LeufsTer25
|
3.0 |
|
B | ||
| 18148 | chr13 | 35041072 | G | A |
c.434G>A
|
p.Arg145Gln
|
3.0 |
|
B | ||
| 26144 | chr13 | 35044937 | T | A |
c.527-10T>A
|
-
|
- | 3.0 |
|
B | |
| 24619 | chr13 | 35050265 | G | C |
c.846-4G>C
|
-
|
- | 3.0 |
|
B | |
| 18149 | chr13 | 35050384 | C | T |
c.961C>T
|
p.Gln321Ter
|
- | 3.0 |
|
B |