Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_006401.3
p.D250N
c.748G>A
NM_006401.3
p.R6R
c.18G>A
NM_006401.3
p.D25A
c.74A>C
NM_006401.3
p.K68_L69insFs
c.204_205insA
NM_006401.3
p.S72N
c.215G>A
NM_006401.3
p.D119A
c.356A>C
NM_006401.3
p.M1_D2insT
c.1_5ins3
NM_006401.3
p.M1insFs
c.1_2insT
NM_006401.3
p.K4_N13delFs
c.10_38del29
NM_006401.3
p.K4Q
c.10A>C
NM_006401.3
p.R6del1
c.16_17delAGG
NM_006401.3
p.R6S
c.18G>C