| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52027976A>C | CA356875749 | SGCB | c.745T>G (p.Leu249Val) c.448T>G (p.Leu150Val) c.535T>G (p.Leu179Val) | |
| 4 | g.52027976A>G | CA439273611 | SGCB | c.745T>C (p.Leu249=) c.448T>C (p.Leu150=) c.535T>C (p.Leu179=) | |
| 4 | g.52027976A>T | CA356875750 | SGCB | c.745T>A (p.Leu249Ile) c.448T>A (p.Leu150Ile) c.535T>A (p.Leu179Ile) | |
| 4 | g.52027977del | CA2670598629 | SGCB | c.744del (p.Glu248AspfsTer2) c.447del (p.Glu149AspfsTer2) c.534del (p.Glu178AspfsTer2) | gnomAD v4 |
| 4 | g.52027977C>A | CA356875751 | SGCB | c.744G>T (p.Glu248Asp) c.447G>T (p.Glu149Asp) c.534G>T (p.Glu178Asp) | |
| 4 | g.52027977C= | CA1457429118 | SGCB | c.744G= (p.Glu248=) c.447G= (p.Glu149=) c.534G= (p.Glu178=) | |
| 4 | g.52027977C>G | CA356875752 | SGCB | c.744G>C (p.Glu248Asp) c.447G>C (p.Glu149Asp) c.534G>C (p.Glu178Asp) | |
| 4 | g.52027977C>T | CA2918306 | SGCB | c.744G>A (p.Glu248=) c.447G>A (p.Glu149=) c.534G>A (p.Glu178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52027978T>A | CA356875753 | SGCB | c.743A>T (p.Glu248Val) c.446A>T (p.Glu149Val) c.533A>T (p.Glu178Val) | |
| 4 | g.52027978T>C | CA356875754 | SGCB | c.743A>G (p.Glu248Gly) c.446A>G (p.Glu149Gly) c.533A>G (p.Glu178Gly) | |
| 4 | g.52027978T>G | CA356875755 | SGCB | c.743A>C (p.Glu248Ala) c.446A>C (p.Glu149Ala) c.533A>C (p.Glu178Ala) | |
| 4 | g.52027979C>A | CA356875756 | SGCB | c.742G>T (p.Glu248Ter) c.445G>T (p.Glu149Ter) c.532G>T (p.Glu178Ter) | |
| 4 | g.52027979C>G | CA356875757 | SGCB | c.742G>C (p.Glu248Gln) c.445G>C (p.Glu149Gln) c.532G>C (p.Glu178Gln) | COSMIC |
| 4 | g.52027979C>T | CA356875758 | SGCB | c.742G>A (p.Glu248Lys) c.445G>A (p.Glu149Lys) c.532G>A (p.Glu178Lys) | |
| 4 | g.52027983_52027994del | CA2670598630 | SGCB | c.731_742del (p.Gly244_Met247del) c.434_445del (p.Gly145_Met148del) c.521_532del (p.Gly174_Met177del) | gnomAD v4 |
| 4 | g.52027980C>A | CA356875759 | SGCB | c.741G>T (p.Met247Ile) c.444G>T (p.Met148Ile) c.531G>T (p.Met177Ile) | |
| 4 | g.52027980C>G | CA356875760 | SGCB | c.741G>C (p.Met247Ile) c.444G>C (p.Met148Ile) c.531G>C (p.Met177Ile) | |
| 4 | g.52027980C>T | CA356875761 | SGCB | c.741G>A (p.Met247Ile) c.444G>A (p.Met148Ile) c.531G>A (p.Met177Ile) | |
| 4 | g.52027981A= | CA1457429119 | SGCB | c.740T= (p.Met247=) c.443T= (p.Met148=) c.530T= (p.Met177=) | |
| 4 | g.52027981A>C | CA356875764 | SGCB | c.740T>G (p.Met247Arg) c.443T>G (p.Met148Arg) c.530T>G (p.Met177Arg) | |
| 4 | g.52027981A>G | CA356875762 | SGCB | c.740T>C (p.Met247Thr) c.443T>C (p.Met148Thr) c.530T>C (p.Met177Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52027981A>T | CA356875763 | SGCB | c.740T>A (p.Met247Lys) c.443T>A (p.Met148Lys) c.530T>A (p.Met177Lys) | gnomAD v4 |
| 4 | g.52027982T>A | CA356875765 | SGCB | c.739A>T (p.Met247Leu) c.442A>T (p.Met148Leu) c.529A>T (p.Met177Leu) | |
| 4 | g.52027982T>C | CA356875766 | SGCB | c.739A>G (p.Met247Val) c.442A>G (p.Met148Val) c.529A>G (p.Met177Val) | |
| 4 | g.52027982T>G | CA356875767 | SGCB | c.739A>C (p.Met247Leu) c.442A>C (p.Met148Leu) c.529A>C (p.Met177Leu) | |
| 4 | g.52027982dup | CA2586973769 | SGCB | c.739dup (p.Met247AsnfsTer?) c.442dup (p.Met148AsnfsTer?) c.529dup (p.Met177AsnfsTer?) | |
| 4 | g.52027983A= | CA1457429120 | SGCB | c.738T= (p.Asn246=) c.441T= (p.Asn147=) c.528T= (p.Asn176=) | |
| 4 | g.52027983A>C | CA356875768 | SGCB | c.738T>G (p.Asn246Lys) c.441T>G (p.Asn147Lys) c.528T>G (p.Asn176Lys) | |
| 4 | g.52027983A>G | CA439273618 | SGCB | c.738T>C (p.Asn246=) c.441T>C (p.Asn147=) c.528T>C (p.Asn176=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52027983A>T | CA356875769 | SGCB | c.738T>A (p.Asn246Lys) c.441T>A (p.Asn147Lys) c.528T>A (p.Asn176Lys) | |
| 4 | g.52027984T>A | CA356875770 | SGCB | c.737A>T (p.Asn246Ile) c.440A>T (p.Asn147Ile) c.527A>T (p.Asn176Ile) | |
| 4 | g.52027984T>C | CA356875771 | SGCB | c.737A>G (p.Asn246Ser) c.440A>G (p.Asn147Ser) c.527A>G (p.Asn176Ser) | |
| 4 | g.52027984T>G | CA356875772 | SGCB | c.737A>C (p.Asn246Thr) c.440A>C (p.Asn147Thr) c.527A>C (p.Asn176Thr) | |
| 4 | g.52027985T>A | CA2918307 | SGCB | c.736A>T (p.Asn246Tyr) c.439A>T (p.Asn147Tyr) c.526A>T (p.Asn176Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52027985T>C | CA2918308 | SGCB | c.736A>G (p.Asn246Asp) c.439A>G (p.Asn147Asp) c.526A>G (p.Asn176Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52027985T>G | CA356875773 | SGCB | c.736A>C (p.Asn246His) c.439A>C (p.Asn147His) c.526A>C (p.Asn176His) | |
| 4 | g.52027985T= | CA1457429121 | SGCB | c.736A= (p.Asn246=) c.439A= (p.Asn147=) c.526A= (p.Asn176=) | |
| 4 | g.52027985_52027986del | CA2573137890 | SGCB | c.735_736del (p.Asn246TyrfsTer?) c.438_439del (p.Asn147TyrfsTer?) c.525_526del (p.Asn176TyrfsTer?) | ClinVar dbSNP |
| 4 | g.52027986A= | CA1457429122 | SGCB | c.735T= (p.Gly245=) c.438T= (p.Gly146=) c.525T= (p.Gly175=) | |
| 4 | g.52027986A>C | CA439273620 | SGCB | c.735T>G (p.Gly245=) c.438T>G (p.Gly146=) c.525T>G (p.Gly175=) | |
| 4 | g.52027986A>G | CA96776298 | SGCB | c.735T>C (p.Gly245=) c.438T>C (p.Gly146=) c.525T>C (p.Gly175=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.52027986A>T | CA439273621 | SGCB | c.735T>A (p.Gly245=) c.438T>A (p.Gly146=) c.525T>A (p.Gly175=) | |
| 4 | g.52027987C>A | CA356875775 | SGCB | c.734G>T (p.Gly245Val) c.437G>T (p.Gly146Val) c.524G>T (p.Gly175Val) | |
| 4 | g.52027987C>G | CA356875776 | SGCB | c.734G>C (p.Gly245Ala) c.437G>C (p.Gly146Ala) c.524G>C (p.Gly175Ala) | |
| 4 | g.52027987C>T | CA356875774 | SGCB | c.734G>A (p.Gly245Asp) c.437G>A (p.Gly146Asp) c.524G>A (p.Gly175Asp) | gnomAD v4 |
| 4 | g.52027988dup | CA2695199374 | SGCB | c.734dup (p.Asn246Ter) c.437dup (p.Asn147Ter) c.524dup (p.Asn176Ter) | ClinVar |
| 4 | g.52027988C>A | CA356875779 | SGCB | c.733G>T (p.Gly245Cys) c.436G>T (p.Gly146Cys) c.523G>T (p.Gly175Cys) | |
| 4 | g.52027988C>G | CA356875777 | SGCB | c.733G>C (p.Gly245Arg) c.436G>C (p.Gly146Arg) c.523G>C (p.Gly175Arg) | |
| 4 | g.52027988C>T | CA356875778 | SGCB | c.733G>A (p.Gly245Ser) c.436G>A (p.Gly146Ser) c.523G>A (p.Gly175Ser) | |
| 4 | g.52027989A>C | CA439273624 | SGCB | c.732T>G (p.Gly244=) c.435T>G (p.Gly145=) c.522T>G (p.Gly174=) |