Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 31972 | chr7 | 138580611 | G | A |
c.2635G>A
|
p.Glu879Lys
|
- | 3.0 |
|
B | |
| 25157 | chr7 | 138580629 | C | T |
c.2653C>T
|
p.Pro885Ser
|
- | 3.0 |
|
B | |
| 20034 | chr7 | 138583915 | A | C |
c.2859A>C
|
p.Gln953His
|
- | 3.0 |
|
B | |
| 18649 | chr7 | 138584778 | G | C |
c.2980G>C
|
p.Glu994Gln
|
- | 3.0 |
|
B | |
| 25670 | chr7 | 138584817 | G | GA |
c.3025dup
|
p.Arg1009LysfsTer10
|
- | 3.0 |
|
B | |
| 22481 | chr7 | 138584842 | TCAGGAATGAATC | T |
c.3045_3056del
|
p.Phe1015_Ser1019delinsLeu
|
- | 3.0 |
|
B | |
| 21275 | chr7 | 138837926 | C | G |
c.5833G>C
|
p.Val1945Leu
|
- | 3.0 |
|
B | |
| 29214 | chr7 | 138840125 | A | C |
c.5598+8T>G
|
-
|
- | 3.0 |
|
B | |
| 34850 | chr7 | 138840255 | G | A |
c.5476C>T
|
p.Gln1826Ter
|
- | 3.0 |
|
B | |
| 17907 | chr7 | 138861370 | C | A |
c.5016G>T
|
p.Gln1672His
|
- | 3.0 |
|
B | |
| 16328 | chr7 | 138861375 | A | T |
c.5011T>A
|
p.Ser1671Thr
|
- | 3.0 |
|
B | |
| 32281 | chr7 | 138861453 | C | T |
c.4933G>A
|
p.Asp1645Asn
|
- | 3.0 |
|
B | |
| 29939 | chr7 | 138867983 | C | T |
c.4921G>A
|
p.Gly1641Arg
|
3.0 |
|
B | ||
| 26242 | chr7 | 138868073 | G | T |
c.4831C>A
|
p.Pro1611Thr
|
- | 3.0 |
|
B | |
| 31774 | chr7 | 138868097 | G | A |
c.4807C>T
|
p.Arg1603Trp
|
3.0 |
|
B | ||
| 26709 | chr7 | 138869520 | C | T |
c.4775+18G>A
|
-
|
2.0 |
|
B | ||
| 27153 | chr7 | 138869764 | G | C |
c.4552-3C>G
|
-
|
- | 3.0 |
|
B | |
| 30694 | chr7 | 138879579 | C | G |
c.4304G>C
|
p.Gly1435Ala
|
3.0 |
|
B | ||
| 14069 | chr7 | 138881414 | AG | A |
c.4202del
|
p.Pro1401LeufsTer150
|
- | 3.0 |
|
B | |
| 15026 | chr7 | 138894414 | G | C |
c.3960C>G
|
p.Tyr1320Ter
|
- | 3.0 |
|
B |