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Gene: HNRNPDL & Disease: LGMDD3, 560 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
144073	HNRNPDL	c.1132G>A	p.Asp378Asn (p.D378N)	NM_031372.4 M	SNV	P	1 +	3
144073	HNRNPDL	c.1022-394G>A	--	NM_001207000.1	SNV	P	1 +	3
144074	HNRNPDL	c.1132G>C	p.Asp378His (p.D378H)	NM_031372.4 M	SNV	P	1 +	2
654247	HNRNPDL	c.1021+6A>G	--	NM_031372.4 M	SNV	VUS	1 +	2
1346798	HNRNPDL	c.612+5G>A	--	NM_031372.4 M	SNV	VUS	1 +	2
2051334	HNRNPDL	c.774+3G>A	--	NM_031372.4 M	SNV	VUS	1 +	2
144074	HNRNPDL	c.1022-394G>C	--	NM_001207000.1	SNV	P	1 +	2
654247	HNRNPDL	c.1021+6A>G	--	NM_001207000.1	SNV	VUS	1 +	2
1346798	HNRNPDL	c.612+5G>A	--	NM_001207000.1	SNV	VUS	1 +	2
2051334	HNRNPDL	c.774+3G>A	--	NM_001207000.1	SNV	VUS	1 +	2
1405291	HNRNPDL	c.127C>A	p.Pro43Thr (p.P43T)	NM_031372.4 M	SNV	VUS	1 +	1
533021	HNRNPDL	c.35C>T	p.Pro12Leu (p.P12L)	NM_031372.4 M	SNV	VUS	1 +	1
1430548	HNRNPDL	c.1190G>A	p.Ser397Asn (p.S397N)	NM_031372.4 M	SNV	VUS	1 +	1
1377434	HNRNPDL	c.101C>T	p.Pro34Leu (p.P34L)	NM_031372.4 M	SNV	VUS	1 +	1
1405291	HNRNPDL	c.127C>A	p.Pro43Thr (p.P43T)	NM_001207000.1	SNV	VUS	1 +	1
533021	HNRNPDL	c.35C>T	p.Pro12Leu (p.P12L)	NM_001207000.1	SNV	VUS	1 +	1
1430548	HNRNPDL	c.1022-336G>A	--	NM_001207000.1	SNV	VUS	1 +	1
1377434	HNRNPDL	c.101C>T	p.Pro34Leu (p.P34L)	NM_001207000.1	SNV	VUS	1 +	1
755726	HNRNPDL	c.84C>G	p.Ser28= (p.S28=)	NM_031372.4 M	SNV	LB	1 +	0
704526	HNRNPDL	c.1097G>C	p.Gly366Ala (p.G366A)	NM_031372.4 M	SNV	LB	1 +	0

共560个结果, 每页展示20条

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