| 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.76302907C>A | CA367763091 | HSPB1 | c.195C>A (p.Ser65Arg) n.235C>A | dbSNP gnomAD v4 |
| 7 | g.76302907C= | CA1718328974 | HSPB1 | c.195C= (p.Ser65=) n.235C= | |
| 7 | g.76302907C>G | CA367763090 | HSPB1 | c.195C>G (p.Ser65Arg) n.235C>G | |
| 7 | g.76302907C>T | CA456330379 | HSPB1 | c.195C>T (p.Ser65=) n.235C>T | |
| 7 | g.76302910del | CA2683406609 | HSPB1 | c.198del (p.Ala67GlnfsTer?) n.238del | gnomAD v4 |
| 7 | g.76302908C>A | CA367763092 | HSPB1 | c.196C>A (p.Pro66Thr) n.236C>A | gnomAD v4 |
| 7 | g.76302908C>G | CA367763094 | HSPB1 | c.196C>G (p.Pro66Ala) n.236C>G | |
| 7 | g.76302908C>T | CA367763093 | HSPB1 | c.196C>T (p.Pro66Ser) n.236C>T | ClinVar gnomAD v4 |
| 7 | g.76302909C>A | CA367763095 | HSPB1 | c.197C>A (p.Pro66His) n.237C>A | |
| 7 | g.76302909C>G | CA367763097 | HSPB1 | c.197C>G (p.Pro66Arg) n.237C>G | |
| 7 | g.76302909C>T | CA367763096 | HSPB1 | c.197C>T (p.Pro66Leu) n.237C>T | |
| 7 | g.76302910C>A | CA456330380 | HSPB1 | c.198C>A (p.Pro66=) n.238C>A | |
| 7 | g.76302910C= | CA1718328980 | HSPB1 | c.198C= (p.Pro66=) n.238C= | |
| 7 | g.76302910C>G | CA456330381 | HSPB1 | c.198C>G (p.Pro66=) n.238C>G | |
| 7 | g.76302910C>T | CA4306285 | HSPB1 | c.198C>T (p.Pro66=) n.238C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302911G>A | CA4306286 | HSPB1 | c.199G>A (p.Ala67Thr) n.239G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.76302911G>C | CA367763098 | HSPB1 | c.199G>C (p.Ala67Pro) n.239G>C | |
| 7 | g.76302911G= | CA1718328983 | HSPB1 | c.199G= (p.Ala67=) n.239G= | |
| 7 | g.76302911G>T | CA367763099 | HSPB1 | c.199G>T (p.Ala67Ser) n.239G>T | gnomAD v4 |
| 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 |