| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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 |
| 4 | g.52028032T>C | CA356876010 | SGCB | c.689A>G (p.Glu230Gly) c.392A>G (p.Glu131Gly) c.479A>G (p.Glu160Gly) | |
| 4 | g.52028032T>G | CA356876008 | SGCB | c.689A>C (p.Glu230Ala) c.392A>C (p.Glu131Ala) c.479A>C (p.Glu160Ala) | |
| 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) |