Browse variants

id CHR POS REF ALT HGVS c. HGVS p. GENE RSID Mean user class Consensus classification Review state
35344 chr13 48364918 T G
c.886T>G
p.Phe296Val
RB1
- 3.0
B
14075 chr13 48364922 TA T
c.891del
p.Pro298LeufsTer3
RB1
- 4.0
B
8143 chr13 48364942 G T
c.910G>T
p.Gly304Ter
RB1
- 4.0
B
31444 chr13 48364975 A G
c.939+4A>G
-
RB1
- 3.0
B
33575 chr13 48367493 G T
c.940-1G>T
p.?
RB1
4.0
B
7147 chr13 48367501 ATCTT A
c.951_954del
p.Ser318AsnfsTer13
RB1
5.0
B
27705 chr13 48367503 C G
c.949C>G
p.Leu317Val
RB1
- 3.0
B
31167 chr13 48367512 C T
c.958C>T
p.Arg320Ter
RB1
4.5
B
8524 chr13 48367521 G C
c.967G>C
p.Glu323Gln
RB1
- 3.0
B
2947 chr13 48367525 TTTATC T
c.975_979del
p.Tyr325Ter
RB1
- 4.0
B
33098 chr13 48367527 T A
c.973T>A
p.Tyr325Asn
RB1
- 4.0
B
3376 chr13 48367564 T A
c.1010T>A
p.Leu337Ter
RB1
- 4.0
B
17728 chr13 48367570 AT A
c.1017del
p.His339GlnfsTer10
RB1
- 4.0
B
12436 chr13 48367599 GACAGGT G
c.1047_1049+3del
p.?
RB1
- 4.0
B
27932 chr13 48367605 T C
c.1049+2T>C
p.?
RB1
- 4.0
B
26523 chr13 48367606 A G
c.1049+3A>G
-
RB1
3.5
B
4227 chr13 48368549 C T
c.1072C>T
p.Arg358Ter
RB1
4.5
B
9314 chr13 48373424 C T
c.1147C>T
p.Gln383Ter
RB1
4.5
B
10148 chr13 48373493 G A
c.1215+1G>A
p.?
RB1
4.5
B
28010 chr13 48376947 A G
c.1245A>G
p.Ile415Met
RB1
3.0
B