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DKC1base
Variation registry for Hoyeraal-Hreidarsson syndrome

Nucleotide substitutions - DKC1base

Purines/Pyrimidines
	Purines		Pyrimidines
-->	A	G	C	T	Total
A	0	2	0	0	2
G	1	0	0	0	1
C	0	0	0	8	8
T	0	0	1	0	1
Total	1	2	1	8	12

Amino/Keto
	Amino		Keto
-->	A	C	G	T	Total
A	0	0	2	0	2
C	0	0	0	8	8
G	1	0	0	0	1
T	0	1	0	0	1
Total	1	1	2	8	12

Weak/Strong
	Weak		Strong
-->	A	T	C	G	Total
A	0	0	0	2	2
T	0	0	1	0	1
C	0	8	0	0	8
G	1	0	0	0	1
Total	1	8	1	2	12

Purines/Pyrimidines (%)
	Purines		Pyrimidines
-->	A	G	C	T	Total
A	0.0	16.7	0.0	0.0	16.7
G	8.3	0.0	0.0	0.0	8.3
C	0.0	0.0	0.0	66.7	66.7
T	0.0	0.0	8.3	0.0	8.3
Total	8.3	16.7	8.3	66.7	100.0

Amino/Keto (%)
	Amino		Keto
-->	A	C	G	T	Total
A	0.0	0.0	16.7	0.0	16.7
C	0.0	0.0	0.0	66.7	66.7
G	8.3	0.0	0.0	0.0	8.3
T	0.0	8.3	0.0	0.0	8.3
Total	8.3	8.3	16.7	66.7	100.0

Weak/Strong (%)
	Weak		Strong
-->	A	T	C	G	Total
A	0.0	0.0	0.0	16.7	16.7
T	0.0	0.0	8.3	0.0	8.3
C	0.0	66.7	0.0	0.0	66.7
G	8.3	0.0	0.0	0.0	8.3
Total	8.3	66.7	8.3	16.7	100.0

Transitions and Transversions
-->	Purine	Pyrimidine
Purine	3	0
Pyrimidine	0	9

Transitions and Transversions (%)
-->	Purine	Pyrimidine
Purine	25.0	0.0
Pyrimidine	0.0	75.0

This site is updated by Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 02.03.2025