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基因: ATN1 & 疾病: CHEDDA, 共48条

ClinVar	基因	碱基改变	氨基酸改变	转录本ID	突变类型	临床意义	疾病数量	文献数量
590921	ATN1	c.3185A>G	p.His1062Arg (p.H1062R)	NM_001940.4 M	SNV	致病突变	1 +	2
590921	ATN1	c.3185A>G	p.His1062Arg (p.H1062R)	NM_001007026.2	SNV	致病突变	1 +	2
1012271	ATN1	c.3155A>C	p.His1052Pro (p.H1052P)	NM_001940.4 M	SNV	致病突变	1 +	1
1012272	ATN1	c.3165_3176del	p.Ile1057_His1060del	NM_001940.4 M	Del	致病突变	1 +	1
1687606	ATN1	c.3176C>T	p.Ser1059Leu (p.S1059L)	NM_001940.4 M	SNV	未确定	1 +	1
487496	ATN1	c.3160C>A	p.His1054Asn (p.H1054N)	NM_001940.4 M	SNV	致病突变	1 +	1
487497	ATN1	c.3172C>T	p.His1058Tyr (p.H1058Y)	NM_001940.4 M	SNV	致病突变	1 +	1
421998	ATN1	c.3177_3178insAACCTG	p.Ser1059_His1060insAsnLeu	NM_001940.4 M	Ins	致病突变	1 +	1
982646	ATN1	c.706A>C	p.Lys236Gln (p.K236Q)	NM_001940.4 M	SNV	可能良性	1 +	1
982647	ATN1	c.1464GCA[21]	p.Gln497_Gln502dup	NM_001940.4 M	MS	可能良性	1 +	1
1174682	ATN1	c.1464GCA[14]	p.Gln502Del (p.Q502del)	NM_001940.4 M	MS	可能良性	2 +	1
1027369	ATN1	c.3182TGCACC[1]	p.1061LH[1]	NM_001940.4 M	MS	可能致病	1 +	1
191276	ATN1	c.3178C>T	p.His1060Tyr (p.H1060Y)	NM_001940.4 M	SNV	致病突变	1 +	1
1187119	ATN1	c.1467G>A	p.Gln489= (p.Q489=)	NM_001940.4 M	SNV	可能良性	2 +	1
599473	ATN1	c.1464GCA[16]	p.Gln502Dup (p.Q502dup)	NM_001940.4 M	MS	可能良性	2 +	1
2582516	ATN1	c.1604C>A	p.Ser535Tyr (p.S535Y)	NM_001940.4 M	SNV	未确定	2 +	1
1012271	ATN1	c.3155A>C	p.His1052Pro (p.H1052P)	NM_001007026.2	SNV	致病突变	1 +	1
1012272	ATN1	c.3165_3176del	p.Ile1057_His1060del	NM_001007026.2	Del	致病突变	1 +	1
1687606	ATN1	c.3176C>T	p.Ser1059Leu (p.S1059L)	NM_001007026.2	SNV	未确定	1 +	1
487496	ATN1	c.3160C>A	p.His1054Asn (p.H1054N)	NM_001007026.2	SNV	致病突变	1 +	1

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