| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52028024_52028025insAAGCCCATAATGAA | CA2580071061 | SGCB | c.708_709insTTTTCATTATGGGC (p.Lys237PhefsTer18) c.411_412insTTTTCATTATGGGC (p.Lys138PhefsTer18) c.498_499insTTTTCATTATGGGC (p.Lys167PhefsTer18) | ClinVar |
| 4 | g.52028018_52028022delinsTAATG | CA1457429136 | SGCB | c.699_703delinsCATTA (p.Phe233=) c.402_406delinsCATTA (p.Phe134=) c.489_493delinsCATTA (p.Phe163=) | |
| 4 | g.52028019_52028020del | CA2670598631 | SGCB | c.701_702del (p.Ile234AsnfsTer6) c.404_405del (p.Ile135AsnfsTer6) c.491_492del (p.Ile164AsnfsTer6) | gnomAD v4 |
| 4 | g.52028022_52028025del | CA16040953 | SGCB | c.699_702del (p.Phe233LeufsTer16) c.402_405del (p.Phe134LeufsTer16) c.489_492del (p.Phe163LeufsTer16) | ClinVar dbSNP |
| 4 | g.52028020A>C | CA356875851 | SGCB | c.701T>G (p.Ile234Ser) c.404T>G (p.Ile135Ser) c.491T>G (p.Ile164Ser) | |
| 4 | g.52028020A>G | CA356875852 | SGCB | c.701T>C (p.Ile234Thr) c.404T>C (p.Ile135Thr) c.491T>C (p.Ile164Thr) | |
| 4 | g.52028020A>T | CA356875853 | SGCB | c.701T>A (p.Ile234Asn) c.404T>A (p.Ile135Asn) c.491T>A (p.Ile164Asn) | |
| 4 | g.52028021T>A | CA356875854 | SGCB | c.700A>T (p.Ile234Phe) c.403A>T (p.Ile135Phe) c.490A>T (p.Ile164Phe) | |
| 4 | g.52028021T>C | CA356875856 | SGCB | c.700A>G (p.Ile234Val) c.403A>G (p.Ile135Val) c.490A>G (p.Ile164Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52028021T>G | CA356875855 | SGCB | c.700A>C (p.Ile234Leu) c.403A>C (p.Ile135Leu) c.490A>C (p.Ile164Leu) | |
| 4 | g.52028021T= | CA1457429137 | SGCB | c.700A= (p.Ile234=) c.403A= (p.Ile135=) c.490A= (p.Ile164=) | |
| 4 | g.52028022G>A | CA439273677 | SGCB | c.699C>T (p.Phe233=) c.402C>T (p.Phe134=) c.489C>T (p.Phe163=) | dbSNP |
| 4 | g.52028022G>C | CA356875857 | SGCB | c.699C>G (p.Phe233Leu) c.402C>G (p.Phe134Leu) c.489C>G (p.Phe163Leu) | |
| 4 | g.52028022G= | CA1457429138 | SGCB | c.699C= (p.Phe233=) c.402C= (p.Phe134=) c.489C= (p.Phe163=) | |
| 4 | g.52028022G>T | CA356875858 | SGCB | c.699C>A (p.Phe233Leu) c.402C>A (p.Phe134Leu) c.489C>A (p.Phe163Leu) | |
| 4 | g.52028023A= | CA1457429140 | SGCB | c.698T= (p.Phe233=) c.401T= (p.Phe134=) c.488T= (p.Phe163=) | |
| 4 | g.52028023A>C | CA356875859 | SGCB | c.698T>G (p.Phe233Cys) c.401T>G (p.Phe134Cys) c.488T>G (p.Phe163Cys) | |
| 4 | g.52028023A>G | CA356875860 | SGCB | c.698T>C (p.Phe233Ser) c.401T>C (p.Phe134Ser) c.488T>C (p.Phe163Ser) | ClinVar dbSNP gnomAD v4 |
| 4 | g.52028023A>T | CA356875861 | SGCB | c.698T>A (p.Phe233Tyr) c.401T>A (p.Phe134Tyr) c.488T>A (p.Phe163Tyr) | gnomAD v4 |
| 4 | g.52028023_52028033delinsAATACACCTTC | CA1457429139 | SGCB | c.688_698delinsGAAGGTGTATT (p.Glu230=) c.391_401delinsGAAGGTGTATT (p.Glu131=) c.478_488delinsGAAGGTGTATT (p.Glu160=) | |
| 4 | g.52028024A>C | CA356875973 | SGCB | c.697T>G (p.Phe233Val) c.400T>G (p.Phe134Val) c.487T>G (p.Phe163Val) | |
| 4 | g.52028024A>G | CA356875975 | SGCB | c.697T>C (p.Phe233Leu) c.400T>C (p.Phe134Leu) c.487T>C (p.Phe163Leu) | |
| 4 | g.52028024A>T | CA356875977 | SGCB | c.697T>A (p.Phe233Ile) c.400T>A (p.Phe134Ile) c.487T>A (p.Phe163Ile) | |
| 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.52028025T>A | CA439273742 | SGCB | c.696A>T (p.Val232=) c.399A>T (p.Val133=) c.486A>T (p.Val162=) | |
| 4 | g.52028025T>C | CA439273743 | SGCB | c.696A>G (p.Val232=) c.399A>G (p.Val133=) c.486A>G (p.Val162=) | |
| 4 | g.52028025T>G | CA439273744 | SGCB | c.696A>C (p.Val232=) c.399A>C (p.Val133=) c.486A>C (p.Val162=) | |
| 4 | g.52028025_52028026insTT | CA2670598632 | SGCB | c.696_697insAA (p.Phe233AsnfsTer18) c.399_400insAA (p.Phe134AsnfsTer18) c.486_487insAA (p.Phe163AsnfsTer18) | gnomAD v4 |
| 4 | g.52028026A= | CA1457429141 | SGCB | c.695T= (p.Val232=) c.398T= (p.Val133=) c.485T= (p.Val162=) | |
| 4 | g.52028026A>C | CA356875983 | SGCB | c.695T>G (p.Val232Gly) c.398T>G (p.Val133Gly) c.485T>G (p.Val162Gly) | gnomAD v4 |
| 4 | g.52028026A>G | CA2918316 | SGCB | c.695T>C (p.Val232Ala) c.398T>C (p.Val133Ala) c.485T>C (p.Val162Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.52028026A>T | CA356875980 | SGCB | c.695T>A (p.Val232Glu) c.398T>A (p.Val133Glu) c.485T>A (p.Val162Glu) | |
| 4 | g.52028027C>A | CA356875985 | SGCB | c.694G>T (p.Val232Leu) c.397G>T (p.Val133Leu) c.484G>T (p.Val162Leu) | |
| 4 | g.52028027C= | CA1457429142 | SGCB | c.694G= (p.Val232=) c.397G= (p.Val133=) c.484G= (p.Val162=) | |
| 4 | g.52028027C>G | CA356875987 | SGCB | c.694G>C (p.Val232Leu) c.397G>C (p.Val133Leu) c.484G>C (p.Val162Leu) | |
| 4 | g.52028027C>T | CA356875988 | SGCB | c.694G>A (p.Val232Ile) c.397G>A (p.Val133Ile) c.484G>A (p.Val162Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.52028028A>C | CA439273746 | SGCB | c.693T>G (p.Gly231=) c.396T>G (p.Gly132=) c.483T>G (p.Gly161=) | |
| 4 | g.52028028A>G | CA439273747 | SGCB | c.693T>C (p.Gly231=) c.396T>C (p.Gly132=) c.483T>C (p.Gly161=) | |
| 4 | g.52028028A>T | CA439273748 | SGCB | c.693T>A (p.Gly231=) c.396T>A (p.Gly132=) c.483T>A (p.Gly161=) | |
| 4 | g.52028029C>A | CA356875991 | SGCB | c.692G>T (p.Gly231Val) c.395G>T (p.Gly132Val) c.482G>T (p.Gly161Val) | COSMIC |
| 4 | g.52028029C= | CA1457429143 | SGCB | c.692G= (p.Gly231=) c.395G= (p.Gly132=) c.482G= (p.Gly161=) | |
| 4 | g.52028029C>G | CA356875992 | SGCB | c.692G>C (p.Gly231Ala) c.395G>C (p.Gly132Ala) c.482G>C (p.Gly161Ala) | |
| 4 | g.52028029C>T | CA2918317 | SGCB | c.692G>A (p.Gly231Asp) c.395G>A (p.Gly132Asp) c.482G>A (p.Gly161Asp) | dbSNP ExAC gnomAD v2 |
| 4 | g.52028030C>A | CA356875997 | SGCB | c.691G>T (p.Gly231Cys) c.394G>T (p.Gly132Cys) c.481G>T (p.Gly161Cys) | |
| 4 | g.52028030C>G | CA356875999 | SGCB | c.691G>C (p.Gly231Arg) c.394G>C (p.Gly132Arg) c.481G>C (p.Gly161Arg) | |
| 4 | g.52028030C>T | CA356876001 | SGCB | c.691G>A (p.Gly231Ser) c.394G>A (p.Gly132Ser) c.481G>A (p.Gly161Ser) | ClinVar |
| 4 | g.52028031T>A | CA356876003 | SGCB | c.690A>T (p.Glu230Asp) c.393A>T (p.Glu131Asp) c.480A>T (p.Glu160Asp) | |
| 4 | g.52028031T>C | CA439273750 | SGCB | c.690A>G (p.Glu230=) c.393A>G (p.Glu131=) c.480A>G (p.Glu160=) | |
| 4 | g.52028031T>G | CA356876006 | SGCB | c.690A>C (p.Glu230Asp) c.393A>C (p.Glu131Asp) c.480A>C (p.Glu160Asp) | ClinVar |
| 4 | g.52028032T>A | CA356876011 | SGCB | c.689A>T (p.Glu230Val) c.392A>T (p.Glu131Val) c.479A>T (p.Glu160Val) | gnomAD v4 |