Amish, Mennonite, and Hutterite
Genetic Disorder Database
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Mutation
Gene:
Region:
(e.g. 5', I1, E3, PA)
Nucleotide:
Base Change:
ins.
del.
A>
C>
G>
T>
A
C
G
T
Other:
Amino Acid Change:
Substitution
term
ala A
cys C
asp D
glu E
phe F
gly G
his H
ile I
lys K
leu L
met M
asn N
pro P
arg R
gln Q
ser S
thr T
val V
trp W
tyr Y
-->
term
ala A
cys C
asp D
glu E
phe F
gly G
his H
ile I
lys K
leu L
met M
asn N
pro P
arg R
gln Q
ser S
thr T
val V
trp W
tyr Y
(e.g. pro 82 --> leu)
Frame shift
Other:
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OMIM #
Disorder
