Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: DNAH11 & Disease: PCD, 2321 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
853420	DNAH11	c.3426-1G>A	--	NM_001277115.2 M	SNV	P	1 +	7
36981	DNAH11	c.8698C>T	p.Arg2900Ter (p.R2900X)	NM_001277115.2 M	SNV	P	2 +	7
916128	DNAH11	c.13373C>T	p.Pro4458Leu (p.P4458L)	NM_001277115.2 M	SNV	P	2 +	7
525271	DNAH11	c.13183C>T	p.Arg4395Ter (p.R4395X)	NM_001277115.2 M	SNV	P	1 +	6
265099	DNAH11	c.5924+1G>C	--	NM_001277115.2 M	SNV	P	1 +	6
228333	DNAH11	c.6244C>T	p.Arg2082Ter (p.R2082X)	NM_001277115.2 M	SNV	P	2 +	6
289324	DNAH11	c.6727C>T	p.Arg2243Ter (p.R2243X)	NM_001277115.2 M	SNV	P	2 +	5
1985549	DNAH11	c.11203-2A>G	--	NM_001277115.2 M	SNV	P	1 +	5
969771	DNAH11	c.11203-1G>C	--	NM_001277115.2 M	SNV	P	1 +	5
1453371	DNAH11	c.2406G>A	p.Trp802Ter (p.W802X)	NM_001277115.2 M	SNV	P	1 +	5
962440	DNAH11	c.983-1G>T	--	NM_001277115.2 M	SNV	P	1 +	5
1750036	DNAH11	c.5845C>T	p.Arg1949Ter (p.R1949X)	NM_001277115.2 M	SNV	P	1 +	5
525434	DNAH11	c.9924+1G>A	--	NM_001277115.2 M	SNV	LP	1 +	4
410782	DNAH11	c.8673+1G>A	--	NM_001277115.2 M	SNV	LP	1 +	4
943280	DNAH11	c.10036C>T	p.Arg3346Ter (p.R3346X)	NM_001277115.2 M	SNV	P	1 +	4
238923	DNAH11	c.4944+1G>A	--	NM_001277115.2 M	SNV	LP	1 +	4
853614	DNAH11	c.6181-1G>A	--	NM_001277115.2 M	SNV	LP	1 +	4
1452056	DNAH11	c.3020T>G	p.Leu1007Ter (p.L1007X)	NM_001277115.2 M	SNV	P	1 +	4
1067390	DNAH11	c.4254+1G>A	--	NM_001277115.2 M	SNV	LP	1 +	4
1805022	DNAH11	c.3910del	p.Arg1304fs (p.R1304fs)	NM_001277115.2 M	Del	P	2 +	4

2321 Results, 20 per Page

...

116

117

Comparison