Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.76302888_76302922delinsCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCG | CA1718328909 | HSPB1 | c.176_210delinsCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCG (p.Pro59=) n.216_250delinsCCCCCGCCGCCATCGAGAGCCCCGCAGTGGCCGCG | |
7 | g.76302892_76302925del | CA1718328914 | HSPB1 | c.180_213del (p.Ala61ProfsTer?) n.220_253del | dbSNP |
7 | g.76302915T>A | CA367763104 | HSPB1 | c.203T>A (p.Val68Glu) n.243T>A | |
7 | g.76302915T>C | CA367763105 | HSPB1 | c.203T>C (p.Val68Ala) n.243T>C | |
7 | g.76302915T>G | CA367763106 | HSPB1 | c.203T>G (p.Val68Gly) n.243T>G | |
7 | g.76302916G>A | CA456330387 | HSPB1 | c.204G>A (p.Val68=) n.244G>A | dbSNP |
7 | g.76302916G>C | CA456330388 | HSPB1 | c.204G>C (p.Val68=) n.244G>C | ClinVar dbSNP gnomAD v4 |
7 | g.76302916G= | CA1718329002 | HSPB1 | c.204G= (p.Val68=) n.244G= | |
7 | g.76302916G>T | CA456330389 | HSPB1 | c.204G>T (p.Val68=) n.244G>T | gnomAD v4 |
7 | g.76302916_76302932delinsGGCCGCGCCCGCCTACA | CA1718329004 | HSPB1 | c.204_220delinsGGCCGCGCCCGCCTACA (p.Val68=) n.244_260delinsGGCCGCGCCCGCCTACA | |
7 | g.76302916_76302917insCA | CA575786741 | HSPB1 | c.204_205insCA (p.Ala69GlnfsTer?) n.244_245insCA | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302917G>A | CA367763107 | HSPB1 | c.205G>A (p.Ala69Thr) n.245G>A | gnomAD v4 |
7 | g.76302917G>C | CA4306288 | HSPB1 | c.205G>C (p.Ala69Pro) n.245G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.76302917G= | CA1718329012 | HSPB1 | c.205G= (p.Ala69=) n.245G= | |
7 | g.76302917G>T | CA367763108 | HSPB1 | c.205G>T (p.Ala69Ser) n.245G>T | |
7 | g.76302924_76302939dup | CA575786742 | HSPB1 | c.212_227dup (p.Leu77ArgfsTer?) n.252_267dup | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302924_76302939del | CA575786743 | HSPB1 | c.212_227del (p.Pro71ArgfsTer?) n.252_267del | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302917_76302918insTGA | CA575786744 | HSPB1 | c.205_206insTGA (p.Ala69delinsValThr) n.245_246insTGA | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302918C>A | CA367763109 | HSPB1 | c.206C>A (p.Ala69Asp) n.246C>A | gnomAD v4 |
7 | g.76302918C>G | CA367763110 | HSPB1 | c.206C>G (p.Ala69Gly) n.246C>G | |
7 | g.76302918C>T | CA367763111 | HSPB1 | c.206C>T (p.Ala69Val) n.246C>T | gnomAD v4 |
7 | g.76302919dup | CA160899352 | HSPB1 | c.207dup (p.Ala70ArgfsTer?) n.247dup | dbSNP |
7 | g.76302919C>A | CA456330391 | HSPB1 | c.207C>A (p.Ala69=) n.247C>A | gnomAD v4 |
7 | g.76302919C>G | CA456330390 | HSPB1 | c.207C>G (p.Ala69=) n.247C>G | |
7 | g.76302919C>T | CA456330392 | HSPB1 | c.207C>T (p.Ala69=) n.247C>T | |
7 | g.76302924_76302941del | CA2683406616 | HSPB1 | c.212_229del (p.Pro71_Ala76del) n.252_269del | gnomAD v4 |
7 | g.76302920G>A | CA367763114 | HSPB1 | c.208G>A (p.Ala70Thr) n.248G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302920G>C | CA367763113 | HSPB1 | c.208G>C (p.Ala70Pro) n.248G>C | gnomAD v4 |
7 | g.76302920G= | CA1718329022 | HSPB1 | c.208G= (p.Ala70=) n.248G= | |
7 | g.76302920G>T | CA367763112 | HSPB1 | c.208G>T (p.Ala70Ser) n.248G>T | gnomAD v4 |
7 | g.76302920_76302934delinsGCGCCCGCCTACAGC | CA1718329024 | HSPB1 | c.208_222delinsGCGCCCGCCTACAGC (p.Ala70=) n.248_262delinsGCGCCCGCCTACAGC | |
7 | g.76302921C>A | CA367763115 | HSPB1 | c.209C>A (p.Ala70Glu) n.249C>A | gnomAD v4 |
7 | g.76302921C>G | CA367763116 | HSPB1 | c.209C>G (p.Ala70Gly) n.249C>G | |
7 | g.76302921C>T | CA367763117 | HSPB1 | c.209C>T (p.Ala70Val) n.249C>T | gnomAD v4 |
7 | g.76302924_76302937del | CA1718329028 | HSPB1 | c.212_225del (p.Pro71ArgfsTer?) n.252_265del | dbSNP |
7 | g.76302922G>A | CA4306289 | HSPB1 | c.210G>A (p.Ala70=) n.250G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302922G>C | CA456330394 | HSPB1 | c.210G>C (p.Ala70=) n.250G>C | |
7 | g.76302922G= | CA1718329032 | HSPB1 | c.210G= (p.Ala70=) n.250G= | |
7 | g.76302922G>T | CA456330395 | HSPB1 | c.210G>T (p.Ala70=) n.250G>T | gnomAD v4 |
7 | g.76302923C>A | CA367763118 | HSPB1 | c.211C>A (p.Pro71Thr) n.251C>A | |
7 | g.76302923C>G | CA367763119 | HSPB1 | c.211C>G (p.Pro71Ala) n.251C>G | |
7 | g.76302923C>T | CA367763120 | HSPB1 | c.211C>T (p.Pro71Ser) n.251C>T | gnomAD v4 |
7 | g.76302924C>A | CA367763121 | HSPB1 | c.212C>A (p.Pro71His) n.252C>A | |
7 | g.76302924C>G | CA367763122 | HSPB1 | c.212C>G (p.Pro71Arg) n.252C>G | |
7 | g.76302924C>T | CA367763123 | HSPB1 | c.212C>T (p.Pro71Leu) n.252C>T | |
7 | g.76302925C>A | CA456330400 | HSPB1 | c.213C>A (p.Pro71=) n.253C>A | dbSNP gnomAD v4 |
7 | g.76302925C= | CA1718329037 | HSPB1 | c.213C= (p.Pro71=) n.253C= | |
7 | g.76302925C>G | CA456330401 | HSPB1 | c.213C>G (p.Pro71=) n.253C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302925C>T | CA456330402 | HSPB1 | c.213C>T (p.Pro71=) n.253C>T | gnomAD v4 |
7 | g.76302926G>A | CA367763124 | HSPB1 | c.214G>A (p.Ala72Thr) n.254G>A | dbSNP gnomAD v4 |