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Table 1 Summary of the biochemical and molecular findings among the family members

From: Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review

Family member Clinical FH diagnosis TC mmol/lL TG mmol/L HDL-C mmol/L LDL-C mmol/L dbSNP ID Predicted effect
Proband Definite FH 10.0 1 1.5 8.6 LDLR: rs121908026 Probably Damaging
Older brother (Hypercholesterolemic) Probable FH 9.6 0.6 0.3 7 LDLR: rs121908026 Probably Damaging
Grandfather Definite FH 9.3 1.4 1 7.7 LDLR: rs121908026 Probably Damaging
Twin, youngest brother Definite FH 10.6 0.7 1.8 8.6 LDLR: rs121908026 Probably Damaging
ABCG8: rs11887534 Possibly Damaging
Twin, youngest brother Definite FH 10.8 0.6 1.7 8.8 LDLR: rs121908026 Probably Damaging
ABCG8: rs11887534 Possibly Damaging
Eldest brother (Normolipaemic) Possible FH 5.2 0.4 2.6 2.4 LDLR: rs2738442 Benign
ABCG8: rs11887534 Possibly Damaging
Mother Possible FH 5.3 0..9 2 2.8 LDLR: rs2738442 Benign
ABCG8: rs11887534 Possibly Damaging
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