GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53980338G>T
|
c.1318C>A
|
p.His440Asn
|
probably damaging
| Hep3B |
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53972314G>A
|
c.1841C>T
|
p.Pro614Leu
|
probably damaging
| HCC.1.2 |
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53972315G>A
|
c.1840C>T
|
p.Pro614Ser
|
possibly damaging
| HCC.1.2 |
GLIS1 | Mutation | Missense | ENST00000312233.2 |
g.53972347T>C
|
c.1808A>G
|
p.Asn603Ser
|
probably damaging
| SNU761 |
GLIS1 | Mutation | Truncating | ENST00000312233.2 |
g.54060012_54060019del
|
c.557_564del
|
p.Leu186GlnfsX19
|
damaging
| HCC.1.1 |