Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 8404 | chr5 | 112838598 | GC | G |
c.3006del
|
p.Asp1003ThrfsTer2
|
- | 4.0 |
|
B | |
| 27336 | chr5 | 112838652 | G | A |
c.3058G>A
|
p.Glu1020Lys
|
3.0 |
|
B | ||
| 256 | chr5 | 112838660 | T | TA |
c.3067dup
|
p.Thr1023AsnfsTer6
|
4.67 |
|
A | ||
| 6248 | chr5 | 112838681 | TA | T |
c.3090del
|
p.Lys1030AsnfsTer7
|
- | 4.0 |
|
B | |
| 257 | chr5 | 112838682 | A | T |
c.3088A>T
|
p.Lys1030Ter
|
4.67 |
|
A | ||
| 6824 | chr5 | 112838715 | CA | C |
c.3124del
|
p.Ser1042ValfsTer14
|
- | 4.0 |
|
B | |
| 31729 | chr5 | 112838741 | G | A |
c.3147G>A
|
p.Trp1049Ter
|
4.5 |
|
B | ||
| 258 | chr5 | 112838763 | GA | G |
c.3171del
|
p.Asp1058MetfsTer3
|
- | 4.67 |
|
A | |
| 259 | chr5 | 112838773 | TAAAAC | T |
c.3183_3187del
|
p.Gln1062Ter
|
4.67 |
|
A | ||
| 28232 | chr5 | 112838787 | C | T |
c.3193C>T
|
p.Gln1065Ter
|
- | 4.0 |
|
B | |
| 11492 | chr5 | 112838793 | CA | C |
c.3201del
|
p.Gln1067HisfsTer59
|
- | 4.0 |
|
B | |
| 30034 | chr5 | 112838805 | C | T |
c.3211C>T
|
p.Gln1071Ter
|
4.5 |
|
B | ||
| 2357 | chr5 | 112838819 | T | A |
c.3225T>A
|
p.Tyr1075Ter
|
4.0 |
|
B | ||
| 27377 | chr5 | 112838862 | C | T |
c.3268C>T
|
p.Gln1090Ter
|
4.5 |
|
B | ||
| 260 | chr5 | 112838934 | C | T |
c.3340C>T
|
p.Arg1114Ter
|
5.0 |
|
A | ||
| 10481 | chr5 | 112838965 | A | G |
c.3371A>G
|
p.Asn1124Ser
|
3.0 |
|
B | ||
| 17154 | chr5 | 112838988 | G | T |
c.3394G>T
|
p.Glu1132Ter
|
- | 4.0 |
|
B | |
| 22595 | chr5 | 112839000 | G | T |
c.3406G>T
|
p.Glu1136Ter
|
- | 4.5 |
|
B | |
| 19456 | chr5 | 112839085 | T | TA |
c.3495dup
|
p.Tyr1166IlefsTer2
|
- | 4.5 |
|
B | |
| 2376 | chr5 | 112839108 | CA | C |
c.3515del
|
p.His1172LeufsTer10
|
- | 4.0 |
|
B |