Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 7711 | chr8 | 47890484 | G | T |
c.3848-4C>A
|
-
|
3.0 |
|
B | ||
| 27290 | chr8 | 47893232 | C | A |
c.3754G>T
|
p.Ala1252Ser
|
- | 3.0 |
|
B | |
| 29824 | chr8 | 47893253 | G | A |
c.3733C>T
|
p.Arg1245Trp
|
2.0 |
|
B | ||
| 18644 | chr8 | 47893299 | A | AGCCCTCGGGCATCCTGGCC |
c.3686_3687insGGCCAGGATGCCCGAGGGC
|
p.Cys1229TrpfsTer63
|
- | 3.5 |
|
B | |
| 1357 | chr8 | 47893346 | C | A |
c.3640G>T
|
p.Glu1214Ter
|
- | 3.5 |
|
B | |
| 12604 | chr8 | 47897150 | G | T |
c.3598+11C>A
|
-
|
- | 3.0 |
|
B | |
| 31843 | chr8 | 47897268 | C | A |
c.3491G>T
|
p.Cys1164Phe
|
- | 3.0 |
|
B | |
| 30940 | chr8 | 47898471 | G | A |
c.3463C>T
|
p.Arg1155Ter
|
3.5 |
|
B | ||
| 28170 | chr8 | 47898479 | C | G |
c.3455G>C
|
p.Arg1152Pro
|
- | 3.0 |
|
B | |
| 22575 | chr8 | 47898527 | C | T |
c.3407G>A
|
p.Arg1136His
|
3.0 |
|
B | ||
| 34074 | chr8 | 47898528 | G | A |
c.3406C>T
|
p.Arg1136Cys
|
3.0 |
|
B | ||
| 5125 | chr8 | 47898536 | T | C |
c.3398A>G
|
p.His1133Arg
|
- | 3.0 |
|
B | |
| 13455 | chr8 | 47902761 | C | G |
c.3077G>C
|
p.Arg1026Thr
|
- | 3.0 |
|
B | |
| 28080 | chr8 | 47904886 | A | T |
c.3025T>A
|
p.Leu1009Ile
|
- | 3.0 |
|
B | |
| 28081 | chr8 | 47904914 | C | G |
c.2997G>C
|
p.Lys999Asn
|
3.0 |
|
B | ||
| 24042 | chr8 | 47912450 | G | C |
c.2894C>G
|
p.Thr965Arg
|
- | 3.0 |
|
B | |
| 32496 | chr8 | 47913894 | G | A |
c.2781+7C>T
|
-
|
2.0 |
|
B | ||
| 6476 | chr8 | 47913900 | CT | C |
c.2781del
|
p.Val928LeufsTer52
|
- | 3.5 |
|
B | |
| 6466 | chr8 | 47913957 | C | A |
c.2725G>T
|
p.Val909Leu
|
- | 3.0 |
|
B | |
| 6672 | chr8 | 47914051 | A | C |
c.2631T>G
|
p.Asp877Glu
|
3.0 |
|
B |