| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52028023_52028033delinsAATACACCTTC | CA1457429139 | SGCB | c.688_698delinsGAAGGTGTATT (p.Glu230=) c.391_401delinsGAAGGTGTATT (p.Glu131=) c.478_488delinsGAAGGTGTATT (p.Glu160=) | |
| 4 | g.52028026_52028035del | CA2918315 | SGCB | c.688_697del (p.Glu230SerfsTer17) c.391_400del (p.Glu131SerfsTer17) c.478_487del (p.Glu160SerfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52028033C>A | CA356876014 | SGCB | c.688G>T (p.Glu230Ter) c.391G>T (p.Glu131Ter) c.478G>T (p.Glu160Ter) | gnomAD v4 |
| 4 | g.52028033C>G | CA356876016 | SGCB | c.688G>C (p.Glu230Gln) c.391G>C (p.Glu131Gln) c.478G>C (p.Glu160Gln) | |
| 4 | g.52028033C>T | CA356876017 | SGCB | c.688G>A (p.Glu230Lys) c.391G>A (p.Glu131Lys) c.478G>A (p.Glu160Lys) | |
| 4 | g.52028034A= | CA1457429144 | SGCB | c.687T= (p.Asn229=) c.390T= (p.Asn130=) c.477T= (p.Asn159=) | |
| 4 | g.52028034A>C | CA356876020 | SGCB | c.687T>G (p.Asn229Lys) c.390T>G (p.Asn130Lys) c.477T>G (p.Asn159Lys) | |
| 4 | g.52028034A>G | CA2918318 | SGCB | c.687T>C (p.Asn229=) c.390T>C (p.Asn130=) c.477T>C (p.Asn159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52028034A>T | CA356876023 | SGCB | c.687T>A (p.Asn229Lys) c.390T>A (p.Asn130Lys) c.477T>A (p.Asn159Lys) | |
| 4 | g.52028034dup | CA2670598633 | SGCB | c.687dup (p.Glu230Ter) c.390dup (p.Glu131Ter) c.477dup (p.Glu160Ter) | gnomAD v4 |
| 4 | g.52028035T>A | CA356876024 | SGCB | c.686A>T (p.Asn229Ile) c.389A>T (p.Asn130Ile) c.476A>T (p.Asn159Ile) | |
| 4 | g.52028035T>C | CA356876025 | SGCB | c.686A>G (p.Asn229Ser) c.389A>G (p.Asn130Ser) c.476A>G (p.Asn159Ser) | |
| 4 | g.52028035T>G | CA356876026 | SGCB | c.686A>C (p.Asn229Thr) c.389A>C (p.Asn130Thr) c.476A>C (p.Asn159Thr) | |
| 4 | g.52028036T>A | CA356876029 | SGCB | c.685A>T (p.Asn229Tyr) c.388A>T (p.Asn130Tyr) c.475A>T (p.Asn159Tyr) | |
| 4 | g.52028036T>C | CA356876031 | SGCB | c.685A>G (p.Asn229Asp) c.388A>G (p.Asn130Asp) c.475A>G (p.Asn159Asp) | |
| 4 | g.52028036T>G | CA356876032 | SGCB | c.685A>C (p.Asn229His) c.388A>C (p.Asn130His) c.475A>C (p.Asn159His) | |
| 4 | g.52028037T>A | CA439273755 | SGCB | c.684A>T (p.Gly228=) c.387A>T (p.Gly129=) c.474A>T (p.Gly158=) | |
| 4 | g.52028037T>C | CA2918319 | SGCB | c.684A>G (p.Gly228=) c.387A>G (p.Gly129=) c.474A>G (p.Gly158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52028037T>G | CA439273754 | SGCB | c.684A>C (p.Gly228=) c.387A>C (p.Gly129=) c.474A>C (p.Gly158=) | |
| 4 | g.52028037T= | CA1457429145 | SGCB | c.684A= (p.Gly228=) c.387A= (p.Gly129=) c.474A= (p.Gly158=) | |
| 4 | g.52028038C>A | CA356876038 | SGCB | c.683G>T (p.Gly228Val) c.386G>T (p.Gly129Val) c.473G>T (p.Gly158Val) | |
| 4 | g.52028038C= | CA1457429146 | SGCB | c.683G= (p.Gly228=) c.386G= (p.Gly129=) c.473G= (p.Gly158=) | |
| 4 | g.52028038C>G | CA356876040 | SGCB | c.683G>C (p.Gly228Ala) c.386G>C (p.Gly129Ala) c.473G>C (p.Gly158Ala) | COSMIC |
| 4 | g.52028038C>T | CA356876035 | SGCB | c.683G>A (p.Gly228Glu) c.386G>A (p.Gly129Glu) c.473G>A (p.Gly158Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52028039C>A | CA356876045 | SGCB | c.682G>T (p.Gly228Ter) c.385G>T (p.Gly129Ter) c.472G>T (p.Gly158Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52028039C= | CA1457429147 | SGCB | c.682G= (p.Gly228=) c.385G= (p.Gly129=) c.472G= (p.Gly158=) | |
| 4 | g.52028039C>G | CA356876042 | SGCB | c.682G>C (p.Gly228Arg) c.385G>C (p.Gly129Arg) c.472G>C (p.Gly158Arg) | |
| 4 | g.52028039C>T | CA356876043 | SGCB | c.682G>A (p.Gly228Arg) c.385G>A (p.Gly129Arg) c.472G>A (p.Gly158Arg) | |
| 4 | g.52028040A>C | CA439273757 | SGCB | c.681T>G (p.Arg227=) c.384T>G (p.Arg128=) c.471T>G (p.Arg157=) | |
| 4 | g.52028040A>G | CA439273758 | SGCB | c.681T>C (p.Arg227=) c.384T>C (p.Arg128=) c.471T>C (p.Arg157=) | |
| 4 | g.52028040A>T | CA439273759 | SGCB | c.681T>A (p.Arg227=) c.384T>A (p.Arg128=) c.471T>A (p.Arg157=) | ClinVar gnomAD v4 |
| 4 | g.52028041C>A | CA356876049 | SGCB | c.680G>T (p.Arg227Leu) c.383G>T (p.Arg128Leu) c.470G>T (p.Arg157Leu) | gnomAD v4 COSMIC |
| 4 | g.52028041C= | CA1457429148 | SGCB | c.680G= (p.Arg227=) c.383G= (p.Arg128=) c.470G= (p.Arg157=) | |
| 4 | g.52028041C>G | CA356876050 | SGCB | c.680G>C (p.Arg227Pro) c.383G>C (p.Arg128Pro) c.470G>C (p.Arg157Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52028041C>T | CA2918320 | SGCB | c.680G>A (p.Arg227His) c.383G>A (p.Arg128His) c.470G>A (p.Arg157His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52028042G>A | CA2918321 | SGCB | c.679C>T (p.Arg227Cys) c.382C>T (p.Arg128Cys) c.469C>T (p.Arg157Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52028042G>C | CA356876055 | SGCB | c.679C>G (p.Arg227Gly) c.382C>G (p.Arg128Gly) c.469C>G (p.Arg157Gly) | gnomAD v4 |
| 4 | g.52028042G= | CA1457429149 | SGCB | c.679C= (p.Arg227=) c.382C= (p.Arg128=) c.469C= (p.Arg157=) | |
| 4 | g.52028042G>T | CA356876057 | SGCB | c.679C>A (p.Arg227Ser) c.382C>A (p.Arg128Ser) c.469C>A (p.Arg157Ser) | |
| 4 | g.52028043C>A | CA439273761 | SGCB | c.678G>T (p.Val226=) c.381G>T (p.Val127=) c.468G>T (p.Val156=) | |
| 4 | g.52028043C>G | CA439273762 | SGCB | c.678G>C (p.Val226=) c.381G>C (p.Val127=) c.468G>C (p.Val156=) | |
| 4 | g.52028043C>T | CA439273763 | SGCB | c.678G>A (p.Val226=) c.381G>A (p.Val127=) c.468G>A (p.Val156=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.52028044A>C | CA356876059 | SGCB | c.677T>G (p.Val226Gly) c.380T>G (p.Val127Gly) c.467T>G (p.Val156Gly) | |
| 4 | g.52028044A>G | CA356876061 | SGCB | c.677T>C (p.Val226Ala) c.380T>C (p.Val127Ala) c.467T>C (p.Val156Ala) | |
| 4 | g.52028044A>T | CA356876064 | SGCB | c.677T>A (p.Val226Glu) c.380T>A (p.Val127Glu) c.467T>A (p.Val156Glu) | |
| 4 | g.52028045C>A | CA356876072 | SGCB | c.676G>T (p.Val226Leu) c.379G>T (p.Val127Leu) c.466G>T (p.Val156Leu) | gnomAD v4 |
| 4 | g.52028045C>G | CA356876069 | SGCB | c.676G>C (p.Val226Leu) c.379G>C (p.Val127Leu) c.466G>C (p.Val156Leu) | |
| 4 | g.52028045C>T | CA356876067 | SGCB | c.676G>A (p.Val226Met) c.379G>A (p.Val127Met) c.466G>A (p.Val156Met) | |
| 4 | g.52028046A>C | CA356876073 | SGCB | c.675T>G (p.Ile225Met) c.378T>G (p.Ile126Met) c.465T>G (p.Ile155Met) | |
| 4 | g.52028046A>G | CA439273766 | SGCB | c.675T>C (p.Ile225=) c.378T>C (p.Ile126=) c.465T>C (p.Ile155=) | ClinVar |