| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.76302705_76302719delinsCAGCCAGCATGACCG | CA1718328365 | HSPB1 | c.-8_7delinsCAGCCAGCATGACCG n.33_47delinsCAGCCAGCATGACCG | |
| 7 | g.76302709_76302722del | CA918050625 | HSPB1 | c.-4_10del n.37_50del | dbSNP |
| 7 | g.76302711G>C | CA4306225 | HSPB1 | c.-2G>C (n.-2G>C) n.39G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302711G= | CA1718328384 | HSPB1 | c.-2G= (n.-2G=) n.39G= | |
| 7 | g.76302711G>T | CA2683406118 | HSPB1 | c.-2G>T (n.-2G>T) n.39G>T | gnomAD v4 |
| 7 | g.76302712C>A | CA2683406120 | HSPB1 | c.-1C>A (n.-1C>A) n.40C>A | gnomAD v4 |
| 7 | g.76302712C= | CA1718328388 | HSPB1 | c.-1C= (n.-1C=) n.40C= | |
| 7 | g.76302712C>G | CA160898513 | HSPB1 | c.-1C>G (n.-1C>G) n.40C>G | dbSNP gnomAD v4 |
| 7 | g.76302712C>T | CA160898518 | HSPB1 | c.-1C>T (n.-1C>T) n.40C>T | dbSNP gnomAD v4 |
| 7 | g.76302713A= | CA1718328393 | HSPB1 | c.1A= (p.Met1=) n.41A= | |
| 7 | g.76302713A>C | CA4306226 | HSPB1 | c.1A>C (p.Met1Leu) n.41A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302713A>G | CA367762593 | HSPB1 | c.1A>G (p.Met1Val) n.41A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302713A>T | CA367762590 | HSPB1 | c.1A>T (p.Met1Leu) n.41A>T | |
| 7 | g.76302714T>A | CA367762595 | HSPB1 | c.2T>A (p.Met1Lys) n.42T>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.76302714T>C | CA367762596 | HSPB1 | c.2T>C (p.Met1Thr) n.42T>C | gnomAD v4 |
| 7 | g.76302714T>G | CA367762599 | HSPB1 | c.2T>G (p.Met1Arg) n.42T>G | |
| 7 | g.76302714T= | CA1718328400 | HSPB1 | c.2T= (p.Met1=) n.42T= | |
| 7 | g.76302714_76302715delinsCA | CA2580077375 | HSPB1 | c.2_3delinsCA (p.Met1Thr) n.42_43delinsCA | ClinVar |
| 7 | g.76302715G>A | CA367762603 | HSPB1 | c.3G>A (p.Met1Ile) n.43G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302715G>C | CA367762605 | HSPB1 | c.3G>C (p.Met1Ile) n.43G>C | |
| 7 | g.76302715G= | CA1718328403 | HSPB1 | c.3G= (p.Met1=) n.43G= | |
| 7 | g.76302715G>T | CA367762607 | HSPB1 | c.3G>T (p.Met1Ile) n.43G>T | gnomAD v4 |
| 7 | g.76302716A= | CA1718328409 | HSPB1 | c.4A= (p.Thr2=) n.44A= | |
| 7 | g.76302716A>C | CA4306227 | HSPB1 | c.4A>C (p.Thr2Pro) n.44A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.76302716A>G | CA367762610 | HSPB1 | c.4A>G (p.Thr2Ala) n.44A>G | |
| 7 | g.76302716A>T | CA367762613 | HSPB1 | c.4A>T (p.Thr2Ser) n.44A>T | |
| 7 | g.76302717C>A | CA367762617 | HSPB1 | c.5C>A (p.Thr2Asn) n.45C>A | |
| 7 | g.76302717C>G | CA367762619 | HSPB1 | c.5C>G (p.Thr2Ser) n.45C>G | |
| 7 | g.76302717C>T | CA367762621 | HSPB1 | c.5C>T (p.Thr2Ile) n.45C>T | gnomAD v4 COSMIC |
| 7 | g.76302718C>A | CA456330093 | HSPB1 | c.6C>A (p.Thr2=) n.46C>A | gnomAD v4 COSMIC |
| 7 | g.76302718C= | CA1718328413 | HSPB1 | c.6C= (p.Thr2=) n.46C= | |
| 7 | g.76302718C>G | CA456330094 | HSPB1 | c.6C>G (p.Thr2=) n.46C>G | |
| 7 | g.76302718C>T | CA456330095 | HSPB1 | c.6C>T (p.Thr2=) n.46C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.76302719G>A | CA4306228 | HSPB1 | c.7G>A (p.Glu3Lys) n.47G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302719G>C | CA367762625 | HSPB1 | c.7G>C (p.Glu3Gln) n.47G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.76302719G= | CA1718328416 | HSPB1 | c.7G= (p.Glu3=) n.47G= | |
| 7 | g.76302719G>T | CA367762627 | HSPB1 | c.7G>T (p.Glu3Ter) n.47G>T | gnomAD v4 |
| 7 | g.76302720A= | CA1718328422 | HSPB1 | c.8A= (p.Glu3=) n.48A= | |
| 7 | g.76302720A>C | CA367762631 | HSPB1 | c.8A>C (p.Glu3Ala) n.48A>C | |
| 7 | g.76302720A>G | CA4306229 | HSPB1 | c.8A>G (p.Glu3Gly) n.48A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.76302720A>T | CA367762635 | HSPB1 | c.8A>T (p.Glu3Val) n.48A>T | |
| 7 | g.76302721G>A | CA200407 | HSPB1 | c.9G>A (p.Glu3=) n.49G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.76302721G>C | CA367762639 | HSPB1 | c.9G>C (p.Glu3Asp) n.49G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.76302721G= | CA1718328429 | HSPB1 | c.9G= (p.Glu3=) n.49G= | |
| 7 | g.76302721G>T | CA367762642 | HSPB1 | c.9G>T (p.Glu3Asp) n.49G>T | gnomAD v4 |
| 7 | g.76302722C>A | CA367762644 | HSPB1 | c.10C>A (p.Arg4Ser) n.50C>A | gnomAD v4 |
| 7 | g.76302722C>G | CA367762647 | HSPB1 | c.10C>G (p.Arg4Gly) n.50C>G | |
| 7 | g.76302722C>T | CA367762649 | HSPB1 | c.10C>T (p.Arg4Cys) n.50C>T | gnomAD v4 |
| 7 | g.76302723G>A | CA4306230 | HSPB1 | c.11G>A (p.Arg4His) n.51G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.76302723G>C | CA367762652 | HSPB1 | c.11G>C (p.Arg4Pro) n.51G>C |