| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.52027964_52027967del | CA2670598628 | SGCB | c.753+3_753+6del (n.753+3_753+6del) c.456+3_456+6del (n.456+3_456+6del) c.543+3_543+6del (n.543+3_543+6del) | gnomAD v4 |
| 4 | g.52027964T>C | CA96776236 | SGCB | c.753+4A>G (n.753+4A>G) c.456+4A>G (n.456+4A>G) c.543+4A>G (n.543+4A>G) | dbSNP |
| 4 | g.52027964T= | CA1457429110 | SGCB | c.753+4A= (n.753+4A=) c.456+4A= (n.456+4A=) c.543+4A= (n.543+4A=) | |
| 4 | g.52027966A>C | CA356875726 | SGCB | c.753+2T>G (n.753+2T>G) c.456+2T>G (n.456+2T>G) c.543+2T>G (n.543+2T>G) | |
| 4 | g.52027966A>G | CA356875727 | SGCB | c.753+2T>C (n.753+2T>C) c.456+2T>C (n.456+2T>C) c.543+2T>C (n.543+2T>C) | |
| 4 | g.52027966A>T | CA356875728 | SGCB | c.753+2T>A (n.753+2T>A) c.456+2T>A (n.456+2T>A) c.543+2T>A (n.543+2T>A) | |
| 4 | g.52027967C>A | CA356875729 | SGCB | c.753+1G>T (n.753+1G>T) c.456+1G>T (n.456+1G>T) c.543+1G>T (n.543+1G>T) | |
| 4 | g.52027967C>G | CA356875730 | SGCB | c.753+1G>C (n.753+1G>C) c.456+1G>C (n.456+1G>C) c.543+1G>C (n.543+1G>C) | |
| 4 | g.52027967C>T | CA356875731 | SGCB | c.753+1G>A (n.753+1G>A) c.456+1G>A (n.456+1G>A) c.543+1G>A (n.543+1G>A) | |
| 4 | g.52027968C>A | CA439273600 | SGCB | c.753G>T (p.Ala251=) c.456G>T (p.Ala152=) c.543G>T (p.Ala181=) | |
| 4 | g.52027968C= | CA1457429111 | SGCB | c.753G= (p.Ala251=) c.456G= (p.Ala152=) c.543G= (p.Ala181=) | |
| 4 | g.52027968C>G | CA439273601 | SGCB | c.753G>C (p.Ala251=) c.456G>C (p.Ala152=) c.543G>C (p.Ala181=) | |
| 4 | g.52027968C>T | CA439273602 | SGCB | c.753G>A (p.Ala251=) c.456G>A (p.Ala152=) c.543G>A (p.Ala181=) | dbSNP gnomAD v4 |
| 4 | g.52027969G>A | CA2918304 | SGCB | c.752C>T (p.Ala251Val) c.455C>T (p.Ala152Val) c.542C>T (p.Ala181Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.52027969G>C | CA356875732 | SGCB | c.752C>G (p.Ala251Gly) c.455C>G (p.Ala152Gly) c.542C>G (p.Ala181Gly) | |
| 4 | g.52027969G= | CA1457429112 | SGCB | c.752C= (p.Ala251=) c.455C= (p.Ala152=) c.542C= (p.Ala181=) | |
| 4 | g.52027969G>T | CA356875733 | SGCB | c.752C>A (p.Ala251Glu) c.455C>A (p.Ala152Glu) c.542C>A (p.Ala181Glu) | gnomAD v4 |
| 4 | g.52027970C>A | CA356875736 | SGCB | c.751G>T (p.Ala251Ser) c.454G>T (p.Ala152Ser) c.541G>T (p.Ala181Ser) | |
| 4 | g.52027970C= | CA1457429113 | SGCB | c.751G= (p.Ala251=) c.454G= (p.Ala152=) c.541G= (p.Ala181=) | |
| 4 | g.52027970C>G | CA356875735 | SGCB | c.751G>C (p.Ala251Pro) c.454G>C (p.Ala152Pro) c.541G>C (p.Ala181Pro) | |
| 4 | g.52027970C>T | CA356875734 | SGCB | c.751G>A (p.Ala251Thr) c.454G>A (p.Ala152Thr) c.541G>A (p.Ala181Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.52027971C>A | CA2918305 | SGCB | c.750G>T (p.Lys250Asn) c.453G>T (p.Lys151Asn) c.540G>T (p.Lys180Asn) | dbSNP ExAC gnomAD v4 |
| 4 | g.52027971C= | CA1457429115 | SGCB | c.750G= (p.Lys250=) c.453G= (p.Lys151=) c.540G= (p.Lys180=) | |
| 4 | g.52027971C>G | CA356875737 | SGCB | c.750G>C (p.Lys250Asn) c.453G>C (p.Lys151Asn) c.540G>C (p.Lys180Asn) | |
| 4 | g.52027971C>T | CA439273608 | SGCB | c.750G>A (p.Lys250=) c.453G>A (p.Lys151=) c.540G>A (p.Lys180=) | dbSNP |
| 4 | g.52027971_52027972delinsCT | CA1457429114 | SGCB | c.749_750delinsAG (p.Lys250=) c.452_453delinsAG (p.Lys151=) c.539_540delinsAG (p.Lys180=) | |
| 4 | g.52027972T>A | CA356875738 | SGCB | c.749A>T (p.Lys250Met) c.452A>T (p.Lys151Met) c.539A>T (p.Lys180Met) | |
| 4 | g.52027972T>C | CA356875739 | SGCB | c.749A>G (p.Lys250Arg) c.452A>G (p.Lys151Arg) c.539A>G (p.Lys180Arg) | |
| 4 | g.52027972T>G | CA356875740 | SGCB | c.749A>C (p.Lys250Thr) c.452A>C (p.Lys151Thr) c.539A>C (p.Lys180Thr) | |
| 4 | g.52027974del | CA1457429116 | SGCB | c.749del (p.Lys250ArgfsTer8) c.452del (p.Lys151ArgfsTer8) c.539del (p.Lys180ArgfsTer8) | dbSNP |
| 4 | g.52027973T>A | CA356875741 | SGCB | c.748A>T (p.Lys250Ter) c.451A>T (p.Lys151Ter) c.538A>T (p.Lys180Ter) | |
| 4 | g.52027973T>C | CA356875742 | SGCB | c.748A>G (p.Lys250Glu) c.451A>G (p.Lys151Glu) c.538A>G (p.Lys180Glu) | |
| 4 | g.52027973T>G | CA356875743 | SGCB | c.748A>C (p.Lys250Gln) c.451A>C (p.Lys151Gln) c.538A>C (p.Lys180Gln) | |
| 4 | g.52027974T>A | CA356875744 | SGCB | c.747A>T (p.Leu249Phe) c.450A>T (p.Leu150Phe) c.537A>T (p.Leu179Phe) | |
| 4 | g.52027974T>C | CA439273609 | SGCB | c.747A>G (p.Leu249=) c.450A>G (p.Leu150=) c.537A>G (p.Leu179=) | |
| 4 | g.52027974T>G | CA356875745 | SGCB | c.747A>C (p.Leu249Phe) c.450A>C (p.Leu150Phe) c.537A>C (p.Leu179Phe) | |
| 4 | g.52027975A= | CA1457429117 | SGCB | c.746T= (p.Leu249=) c.449T= (p.Leu150=) c.536T= (p.Leu179=) | |
| 4 | g.52027975A>C | CA356875746 | SGCB | c.746T>G (p.Leu249Ter) c.449T>G (p.Leu150Ter) c.536T>G (p.Leu179Ter) | |
| 4 | g.52027975A>G | CA356875747 | SGCB | c.746T>C (p.Leu249Ser) c.449T>C (p.Leu150Ser) c.536T>C (p.Leu179Ser) | dbSNP |
| 4 | g.52027975A>T | CA356875748 | SGCB | c.746T>A (p.Leu249Ter) c.449T>A (p.Leu150Ter) c.536T>A (p.Leu179Ter) | |
| 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) |