【佳學基因檢測】多形性白內(nèi)障4型基因檢測所檢測的基因和突變位點數(shù)量
多形性白內(nèi)障4型基因檢測所檢測的基因和突變位點數(shù)量
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多形性白內(nèi)障4型基因檢測通常檢測以下基因和突變位點：
1. 晶狀體纖維蛋白αA1基因 (CRYAA)
突變位點:
R127H
R144C
R144H
R144S
G153R
R175H
R175W
R188H
R188S
R188C
R188G
R188Q
R188K
R188L
R188P
R188T
R188V
R188M
R188I
R188N
R188D
R188E
R188F
R188Y
R188A
R188W
R188
P190L
P190S
P190R
P190H
P190Q
P190K
P190T
P190V
P190M
P190I
P190N
P190D
P190E
P190F
P190Y
P190A
P190W
P190
R207H
R207C
R207S
R207G
R207Q
R207K
R207T
R207V
R207M
R207I
R207N
R207D
R207E
R207F
R207Y
R207A
R207W
R207
R211H
R211C
R211S
R211G
R211Q
R211K
R211T
R211V
R211M
R211I
R211N
R211D
R211E
R211F
R211Y
R211A
R211W
R211
R214H
R214C
R214S
R214G
R214Q
R214K
R214T
R214V
R214M
R214I
R214N
R214D
R214E
R214F
R214Y
R214A
R214W
R214
R217H
R217C
R217S
R217G
R217Q
R217K
R217T
R217V
R217M
R217I
R217N
R217D
R217E
R217F
R217Y
R217A
R217W
R217
R220H
R220C
R220S
R220G
R220Q
R220K
R220T
R220V
R220M
R220I
R220N
R220D
R220E
R220F
R220Y
R220A
R220W
R220
R223H
R223C
R223S
R223G
R223Q
R223K
R223T
R223V
R223M
R223I
R223N
R223D
R223E
R223F
R223Y
R223A
R223W
R223
R226H
R226C
R226S
R226G
R226Q
R226K
R226T
R226V
R226M
R226I
R226N
R226D
R226E
R226F
R226Y
R226A
R226W
R226
R229H
R229C
R229S
R229G
R229Q
R229K
R229T
R229V
R229M
R229I
R229N
R229D
R229E
R229F
