Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33417 | chr10 | 113040042 | G | A |
c.468G>A
|
p.Trp156Ter
|
- | 3.5 |
|
B | |
| 2083 | chr10 | 113089446 | A | AC |
c.552+49327dup
|
-
|
3.5 |
|
B | ||
| 30494 | chr10 | 113089448 | C | T |
c.552+49322C>T
|
-
|
3.0 |
|
B | ||
| 20369 | chr10 | 113141332 | C | T |
c.685+16C>T
|
-
|
3.0 |
|
B | ||
| 31583 | chr10 | 113141333 | G | A |
c.685+17G>A
|
-
|
2.5 |
|
B | ||
| 33286 | chr10 | 113143959 | C | T |
c.722C>T
|
p.Pro241Leu
|
3.0 |
|
B | ||
| 517 | chr10 | 113146009 | A | G |
c.789-2A>G
|
p.?
|
- | 3.5 |
|
B | |
| 25685 | chr10 | 113146088 | C | T |
c.866C>T
|
p.Ser289Phe
|
- | 3.0 |
|
B | |
| 13118 | chr10 | 113151033 | TACAC | T |
c.914_917del
|
p.His305ArgfsTer9
|
- | 3.5 |
|
B | |
| 13119 | chr10 | 113151041 | A | AATATGCGAATG |
c.919_920insATATGCGAATG
|
p.Thr307AsnfsTer12
|
- | 3.5 |
|
B | |
| 21484 | chr10 | 113151113 | CTCCATAGTTCGTAAGTGTTGCTGTTTTTCT | C |
c.992_1001+20del
|
p.?
|
- | 4.0 |
|
B | |
| 16155 | chr10 | 113151123 | C | A |
c.1001C>A
|
p.Ser334Ter
|
- | 3.5 |
|
B | |
| 20608 | chr10 | 113151139 | T | C |
c.1001+16T>C
|
-
|
- | 3.0 |
|
B | |
| 10945 | chr10 | 113151722 | C | G |
-
|
-
|
-
|
- | 3.0 |
|
B |
| 10478 | chr10 | 113151802 | A | G |
c.1079A>G
|
p.Tyr360Cys
|
- | 3.0 |
|
B | |
| 7738 | chr10 | 113151879 | C | CGG |
c.1157_1158dup
|
p.Arg387GlyfsTer61
|
- | 3.5 |
|
B | |
| 8590 | chr10 | 113152379 | C | T |
c.1208C>T
|
p.Ala403Val
|
- | 3.0 |
|
B | |
| 24820 | chr10 | 113152382 | GGAAGGA | G |
c.1213_1218del
|
p.Lys405_Glu406del
|
- | 3.0 |
|
B | |
| 23019 | chr10 | 113152412 | A | AC |
c.1245dup
|
p.Gly416ArgfsTer7
|
- | 4.0 |
|
B | |
| 28850 | chr10 | 113152430 | G | A |
c.1259G>A
|
p.Arg420Gln
|
3.0 |
|
B |