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.76302916_76302932delinsGGCCGCGCCCGCCTACA | CA1718329004 | HSPB1 | c.204_220delinsGGCCGCGCCCGCCTACA (p.Val68=) n.244_260delinsGGCCGCGCCCGCCTACA | |
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.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 |
7 | g.76302926G>C | CA367763125 | HSPB1 | c.214G>C (p.Ala72Pro) n.254G>C | |
7 | g.76302926G= | CA1718329038 | HSPB1 | c.214G= (p.Ala72=) n.254G= | |
7 | g.76302926G>T | CA367763126 | HSPB1 | c.214G>T (p.Ala72Ser) n.254G>T | gnomAD v4 |
7 | g.76302927C>A | CA367763128 | HSPB1 | c.215C>A (p.Ala72Asp) n.255C>A | gnomAD v4 |
7 | g.76302927C= | CA1718329040 | HSPB1 | c.215C= (p.Ala72=) n.255C= | |
7 | g.76302927C>G | CA367763129 | HSPB1 | c.215C>G (p.Ala72Gly) n.255C>G | |
7 | g.76302927C>T | CA367763127 | HSPB1 | c.215C>T (p.Ala72Val) n.255C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302928_76302943del | CA2683406620 | HSPB1 | c.216_231del (p.Tyr73AlafsTer?) n.256_271del | gnomAD v4 |
7 | g.76302928C>A | CA456330406 | HSPB1 | c.216C>A (p.Ala72=) n.256C>A | gnomAD v4 |
7 | g.76302928C= | CA1718329046 | HSPB1 | c.216C= (p.Ala72=) n.256C= | |
7 | g.76302928C>G | CA160899372 | HSPB1 | c.216C>G (p.Ala72=) n.256C>G | dbSNP gnomAD v2 gnomAD v4 |
7 | g.76302928C>T | CA10626442 | HSPB1 | c.216C>T (p.Ala72=) n.256C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.76302929T>A | CA367763130 | HSPB1 | c.217T>A (p.Tyr73Asn) n.257T>A | |
7 | g.76302929T>C | CA367763131 | HSPB1 | c.217T>C (p.Tyr73His) n.257T>C | gnomAD v4 |
7 | g.76302929T>G | CA367763132 | HSPB1 | c.217T>G (p.Tyr73Asp) n.257T>G | |
7 | g.76302930A= | CA1718329051 | HSPB1 | c.218A= (p.Tyr73=) n.258A= | |
7 | g.76302930A>C | CA367763133 | HSPB1 | c.218A>C (p.Tyr73Ser) n.258A>C | |
7 | g.76302930A>G | CA367763134 | HSPB1 | c.218A>G (p.Tyr73Cys) n.258A>G | gnomAD v4 |
7 | g.76302930A>T | CA367763135 | HSPB1 | c.218A>T (p.Tyr73Phe) n.258A>T | dbSNP |
7 | g.76302931C>A | CA367763136 | HSPB1 | c.219C>A (p.Tyr73Ter) n.259C>A | gnomAD v4 |