Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8824 | chr17 | 72123727 | T | TA |
c.870_871insA
|
p.Val291SerfsTer5
|
- | 4.0 |
|
B | |
| 32346 | chr17 | 72123729 | TCAACGAGTTTGACCAGTACCTGCCGCC | T |
c.878_904del
|
p.Glu293_Asn301del
|
- | 3.0 |
|
B | |
| 31850 | chr17 | 72123749 | C | G |
c.892C>G
|
p.Leu298Val
|
- | 3.0 |
|
B | |
| 6872 | chr17 | 72123753 | C | A |
c.896C>A
|
p.Pro299Gln
|
- | 3.0 |
|
B | |
| 11680 | chr17 | 72123765 | AC | A |
c.911del
|
p.Pro304ArgfsTer79
|
- | 4.0 |
|
B | |
| 17746 | chr17 | 72123816 | G | A |
c.959G>A
|
p.Gly320Asp
|
- | 3.0 |
|
B | |
| 11156 | chr17 | 72123851 | GGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCC | G |
c.1000_1033del
|
p.Val334ProfsTer38
|
- | 4.0 |
|
B | |
| 17047 | chr17 | 72123862 | G | A |
c.1005G>A
|
p.Trp335Ter
|
- | 4.0 |
|
B | |
| 12240 | chr17 | 72123885 | CGCCA | C |
c.1029_1032del
|
p.Pro345ArgfsTer37
|
- | 4.0 |
|
B | |
| 16222 | chr17 | 72123901 | G | GC |
c.1049dup
|
p.Gln351ThrfsTer227
|
- | 4.0 |
|
B | |
| 27297 | chr17 | 72123931 | GCCCCCGCAGCCGCAGGCGGCGCC | G |
c.1078_1100del
|
p.Pro360ThrfsTer210
|
- | 4.0 |
|
B | |
| 977 | chr17 | 72123982 | GC | G |
c.1126del
|
p.Gln376SerfsTer7
|
- | 4.0 |
|
B | |
| 31677 | chr17 | 72123991 | G | GGC |
c.1137_1138dup
|
p.His380ArgfsTer4
|
- | 4.0 |
|
B | |
| 10575 | chr17 | 72124061 | C | CT |
c.1205dup
|
p.Ser403GlufsTer175
|
- | 4.0 |
|
B | |
| 35237 | chr17 | 72124098 | CG | C |
c.1242del
|
p.Gln416AsnfsTer54
|
- | 4.0 |
|
B | |
| 20942 | chr17 | 72124107 | A | ATT |
c.1250_1251insTT
|
p.Gln417HisfsTer2
|
- | 4.0 |
|
B | |
| 31135 | chr17 | 72124117 | C | CA |
c.1261dup
|
p.Ser421LysfsTer157
|
- | 3.5 |
|
B | |
| 11251 | chr17 | 72124119 | GC | G |
c.1266del
|
p.Phe423SerfsTer47
|
- | 4.0 |
|
B | |
| 26637 | chr17 | 72124126 | CA | C |
c.1271del
|
p.Asn424ThrfsTer46
|
- | 4.0 |
|
B | |
| 16303 | chr17 | 72124131 | T | TC |
c.1277dup
|
p.His427ThrfsTer151
|
- | 4.0 |
|
B |