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.76302912C>A | CA367763100 | HSPB1 | c.200C>A (p.Ala67Glu) n.240C>A | |
7 | g.76302912C>G | CA367763102 | HSPB1 | c.200C>G (p.Ala67Gly) n.240C>G | |
7 | g.76302912C>T | CA367763101 | HSPB1 | c.200C>T (p.Ala67Val) n.240C>T | |
7 | g.76302913A= | CA1718328988 | HSPB1 | c.201A= (p.Ala67=) n.241A= | |
7 | g.76302913A>C | CA456330386 | HSPB1 | c.201A>C (p.Ala67=) n.241A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302913A>G | CA456330384 | HSPB1 | c.201A>G (p.Ala67=) n.241A>G | dbSNP gnomAD v4 |
7 | g.76302913A>T | CA456330383 | HSPB1 | c.201A>T (p.Ala67=) n.241A>T | |
7 | g.76302914G>A | CA4306287 | HSPB1 | c.202G>A (p.Val68Met) n.242G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302914G>C | CA16612411 | HSPB1 | c.202G>C (p.Val68Leu) n.242G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302914G= | CA1718328996 | HSPB1 | c.202G= (p.Val68=) n.242G= | |
7 | g.76302914G>T | CA367763103 | HSPB1 | c.202G>T (p.Val68Leu) n.242G>T | gnomAD v4 |
7 | g.76302914_76302915insCGGTGACCC | CA918050639 | HSPB1 | c.202_203insCGGTGACCC (p.Val68delinsAlaValThrLeu) n.242_243insCGGTGACCC | 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= |