Unique variants in gene HSPB1

Information The variants shown are described using the NM_001540.3 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-46C>T r.(=) p.(=) g.75931984C>T Copied from the Exome Variant Server HSPB1_000001 257/12062 10/8142 247/3920
1 c.-30G>A r.(=) p.(=) g.75932000G>A Copied from the Exome Variant Server HSPB1_000002 1/12256 0/8240 1/4016
1 c.-22G>A r.(=) p.(=) g.75932008G>A Copied from the Exome Variant Server HSPB1_000003 1/12412 0/8310 1/4102
1 c.-19C>T r.(=) p.(=) g.75932011C>T Copied from the Exome Variant Server HSPB1_000004 27/12424 26/8312 1/4112
1 c.-12G>A r.(=) p.(=) g.75932018G>A Copied from the Exome Variant Server HSPB1_000005 2/12554 0/8344 2/4210
1 c.-7A>G r.(=) p.(=) g.75932023A>G Copied from the Exome Variant Server HSPB1_000006 1/12582 0/8358 1/4224
1 c.-4C>T r.(=) p.(=) g.75932026C>T Copied from the Exome Variant Server HSPB1_000007 1/12614 0/8372 1/4242
1 c.1A>C r.? p.? g.75932030A>C Copied from the Exome Variant Server HSPB1_000009 3/12632 0/8394 3/4238
1 c.9G>A r.(=) p.(=) g.75932038G>A Copied from the Exome Variant Server HSPB1_000011 40/12616 38/8386 2/4230
1 c.16G>A r.(?) p.(Val6Ile) g.75932045G>A Copied from the Exome Variant Server HSPB1_000013 1/12636 1/8408 0/4228
1 c.24C>T r.(=) p.(=) g.75932053C>T Copied from the Exome Variant Server HSPB1_000008 3/12656 3/8422 0/4234
1 c.36G>T r.(=) p.(=) g.75932065G>T Copied from the Exome Variant Server HSPB1_000010 59/12626 0/8390 59/4236
1 c.75T>C r.(=) p.(=) g.75932104T>C Copied from the Exome Variant Server HSPB1_000012 1/12096 0/8086 1/4010
1 c.80G>C r.(?) p.(Arg27Pro) g.75932109G>C Copied from the Exome Variant Server HSPB1_000014 2/12008 1/8022 1/3986
1 c.110G>A r.(?) p.(Arg37Gln) g.75932139G>A Copied from the Exome Variant Server HSPB1_000015 1/11970 0/7966 1/4004
1 c.158G>A r.(?) p.(Gly53Asp) g.75932187G>A Copied from the Exome Variant Server HSPB1_000016 1/11752 0/7844 1/3908
1 c.178C>T r.(?) p.(Pro60Ser) g.75932207C>T Copied from the Exome Variant Server HSPB1_000017 11/10408 11/6992 0/3416
1 c.181G>A r.(?) p.(Ala61Thr) g.75932210G>A Copied from the Exome Variant Server HSPB1_000018 1/9952 0/6680 1/3272
1 c.240A>G r.(=) p.(=) g.75932269A>G Copied from the Exome Variant Server HSPB1_000019 5/9732 0/6552 5/3180
1 c.364+34A>C r.(=) p.(=) g.75932427A>C Copied from the Exome Variant Server HSPB1_000020 80/8872 14/5992 66/2880
1 c.365-40T>G r.(=) p.(=) g.75933079T>G Copied from the Exome Variant Server HSPB1_000021 1/12992 0/8592 1/4400
1 c.365-10del r.(=) p.(=) g.75933109del Copied from the Exome Variant Server HSPB1_000022 8/12504 7/8240 1/4264
1 c.365-6C>G r.(=) p.(=) g.75933113C>G Copied from the Exome Variant Server HSPB1_000023 2/12998 1/8592 1/4406
1 c.365-5C>G r.spl? p.? g.75933114C>G Copied from the Exome Variant Server HSPB1_000024 1/12996 0/8590 1/4406
1 c.365-4A>G r.spl? p.? g.75933115A>G Copied from the Exome Variant Server HSPB1_000025 1/12994 1/8588 0/4406
1 c.372C>G r.(?) p.(His124Gln) g.75933126C>G Copied from the Exome Variant Server HSPB1_000026 2/12968 1/8566 1/4402
1 c.373G>A r.(?) p.(Glu125Lys) g.75933127G>A Copied from the Exome Variant Server HSPB1_000027 1/12962 1/8562 0/4400
1 c.406C>T r.(?) p.(Arg136Trp) g.75933160C>T Copied from the Exome Variant Server HSPB1_000028 1/13004 1/8598 0/4406
1 c.428+23G>C r.(=) p.(=) g.75933205G>C Copied from the Exome Variant Server HSPB1_000029 1/12942 0/8570 1/4372
1 c.428+37_428+38insT r.(=) p.(=) g.75933219_75933220insT Copied from the Exome Variant Server HSPB1_000030 3/12422 0/8204 3/4218
1 c.428+44del r.(=) p.(=) g.75933226del Copied from the Exome Variant Server HSPB1_000031 116/12474 10/8234 106/4240
1 c.429-59G>A r.(=) p.(=) g.75933242G>A Copied from the Exome Variant Server HSPB1_000032 193/4564 27/3180 166/1384
1 c.429-43C>T r.(=) p.(=) g.75933258C>T Copied from the Exome Variant Server HSPB1_000033 1/13006 1/8600 0/4406
1 c.429-27G>T r.(=) p.(=) g.75933274G>T Copied from the Exome Variant Server HSPB1_000034 1/13006 0/8600 1/4406
1 c.429-22C>T r.(=) p.(=) g.75933279C>T Copied from the Exome Variant Server HSPB1_000035 1/13004 0/8598 1/4406
1 c.429-7C>T r.(=) p.(=) g.75933294C>T Copied from the Exome Variant Server HSPB1_000036 2/13004 2/8598 0/4406
1 c.438C>T r.(=) p.(=) g.75933310C>T Copied from the Exome Variant Server HSPB1_000037 7/13004 0/8598 7/4406
1 c.461C>T r.(?) p.(Ser154Phe) g.75933333C>T Copied from the Exome Variant Server HSPB1_000038 1/13006 1/8600 0/4406
1 c.487C>T r.(=) p.(=) g.75933359C>T Copied from the Exome Variant Server HSPB1_000039 1/13006 0/8600 1/4406
1 c.498G>C r.(?) p.(Glu166Asp) g.75933370G>C Copied from the Exome Variant Server HSPB1_000040 1/13000 0/8596 1/4404
1 c.537C>A r.(=) p.(=) g.75933409C>A Copied from the Exome Variant Server HSPB1_000041 2/12992 0/8588 2/4404
1 c.573T>C r.(=) p.(=) g.75933445T>C Copied from the Exome Variant Server HSPB1_000042 16/13002 1/8600 15/4402
1 c.598G>A r.(?) p.(Asp200Asn) g.75933470G>A Copied from the Exome Variant Server HSPB1_000043 2/13004 2/8600 0/4404
1 c.602A>G r.(?) p.(Glu201Gly) g.75933474A>G Copied from the Exome Variant Server HSPB1_000044 1/13002 0/8598 1/4404
1 c.610G>A r.(?) p.(Ala204Thr) g.75933482G>A Copied from the Exome Variant Server HSPB1_000045 4/13002 4/8598 0/4404
1 c.*11C>T r.(=) p.(=) g.75933501C>T Copied from the Exome Variant Server HSPB1_000046 318/12986 86/8592 232/4394
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