Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 22447 | chr12 | 896717 | G | C |
c.6230G>C
|
p.Arg2077Pro
|
- | 3.0 |
|
B | |
| 6419 | chr12 | 897607 | G | A |
c.6374G>A
|
p.Arg2125Gln
|
3.0 |
|
B | ||
| 24309 | chr12 | 900661 | C | G |
c.6634C>G
|
p.Pro2212Ala
|
3.0 |
|
B | ||
| 29056 | chr12 | 907948 | G | A |
c.6745G>A
-
|
p.Asp2249Asn
-
|
- | 3.0 |
|
B | |
| 18405 | chr12 | 907979 | G | A |
c.6776G>A
-
|
p.Arg2259Gln
-
|
- | 3.0 |
|
B | |
| 3868 | chr12 | 908633 | TACCCCATTTGGCGCTCA | T |
c.6992_7008del
-
|
p.Thr2331MetfsTer55
-
|
- | 3.0 |
|
B | |
| 13316 | chr12 | 908697 | C | T |
c.7054C>T
-
|
p.Gln2352Ter
-
|
- | 3.0 |
|
B | |
| 8650 | chr12 | 913438 | G | C |
-
c.1210C>G
|
-
p.His404Asp
|
- | 3.0 |
|
B | |
| 16791 | chr12 | 913896 | G | A |
-
c.1193C>T
|
-
p.Thr398Ile
|
- | 3.0 |
|
B | |
| 14161 | chr12 | 913908 | T | A |
-
c.1181A>T
|
-
p.Asp394Val
|
- | 3.0 |
|
B | |
| 962 | chr12 | 914031 | T | A |
-
c.1058A>T
|
-
p.Gln353Leu
|
- | 3.0 |
|
B | |
| 9807 | chr12 | 916462 | CACG | C |
c.744_746del
|
p.Val249del
|
- | 3.0 |
|
B | |
| 12042 | chr12 | 916492 | G | A |
c.726-9C>T
|
-
|
- | 3.0 |
|
B | |
| 2222 | chr12 | 927268 | G | A |
c.349-5C>T
|
-
|
- | 3.0 |
|
B | |
| 26772 | chr12 | 929802 | C | G |
c.348+17G>C
|
-
|
- | 3.0 |
|
B | |
| 17019 | chr12 | 930103 | A | C |
c.228T>G
|
p.Asn76Lys
|
3.0 |
|
B | ||
| 12194 | chr12 | 932962 | G | A |
c.84+13C>T
|
-
|
- | 3.0 |
|
B | |
| 4846 | chr12 | 2595952 | C | CCAGGGAA |
c.2742_2743insCAGGGAA
|
p.Ile915GlnfsTer8
|
- | 3.0 |
|
B | |
| 22766 | chr12 | 4274059 | G | C |
c.19G>C
|
p.Glu7Gln
|
- | 3.0 |
|
B | |
| 856 | chr12 | 4274061 | G | T |
c.21G>T
|
p.Glu7Asp
|
- | 3.0 |
|
B |