Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52027915T>C | CA2670598611 | SGCB | c.753+53A>G (n.753+53A>G) c.456+53A>G (n.456+53A>G) c.543+53A>G (n.543+53A>G) | gnomAD v4 |
4 | g.52027917del | CA2670598610 | SGCB | c.753+53del (n.753+53del) c.456+53del (n.456+53del) c.543+53del (n.543+53del) | gnomAD v4 |
4 | g.52027916T>C | CA2670598612 | SGCB | c.753+52A>G (n.753+52A>G) c.456+52A>G (n.456+52A>G) c.543+52A>G (n.543+52A>G) | gnomAD v4 |
4 | g.52027918A>G | CA2670598613 | SGCB | c.753+50T>C (n.753+50T>C) c.456+50T>C (n.456+50T>C) c.543+50T>C (n.543+50T>C) | gnomAD v4 |
4 | g.52027919T>C | CA2918296 | SGCB | c.753+49A>G (n.753+49A>G) c.456+49A>G (n.456+49A>G) c.543+49A>G (n.543+49A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027919T>G | CA1457429092 | SGCB | c.753+49A>C (n.753+49A>C) c.456+49A>C (n.456+49A>C) c.543+49A>C (n.543+49A>C) | dbSNP |
4 | g.52027919T= | CA1457429091 | SGCB | c.753+49A= (n.753+49A=) c.456+49A= (n.456+49A=) c.543+49A= (n.543+49A=) | |
4 | g.52027920G>A | CA2670598614 | SGCB | c.753+48C>T (n.753+48C>T) c.456+48C>T (n.456+48C>T) c.543+48C>T (n.543+48C>T) | gnomAD v4 |
4 | g.52027920G>T | CA2670598615 | SGCB | c.753+48C>A (n.753+48C>A) c.456+48C>A (n.456+48C>A) c.543+48C>A (n.543+48C>A) | gnomAD v4 |
4 | g.52027921T>C | CA551340266 | SGCB | c.753+47A>G (n.753+47A>G) c.456+47A>G (n.456+47A>G) c.543+47A>G (n.543+47A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52027921T= | CA1457429093 | SGCB | c.753+47A= (n.753+47A=) c.456+47A= (n.456+47A=) c.543+47A= (n.543+47A=) | |
4 | g.52027922A>G | CA2670598616 | SGCB | c.753+46T>C (n.753+46T>C) c.456+46T>C (n.456+46T>C) c.543+46T>C (n.543+46T>C) | gnomAD v4 |
4 | g.52027925del | CA2670598617 | SGCB | c.753+45del (n.753+45del) c.456+45del (n.456+45del) c.543+45del (n.543+45del) | gnomAD v4 |
4 | g.52027925C>T | CA2670598618 | SGCB | c.753+43G>A (n.753+43G>A) c.456+43G>A (n.456+43G>A) c.543+43G>A (n.543+43G>A) | gnomAD v4 |
4 | g.52027926A= | CA1457429094 | SGCB | c.753+42T= (n.753+42T=) c.456+42T= (n.456+42T=) c.543+42T= (n.543+42T=) | |
4 | g.52027926A>G | CA2918297 | SGCB | c.753+42T>C (n.753+42T>C) c.456+42T>C (n.456+42T>C) c.543+42T>C (n.543+42T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027928G>A | CA2597764737 | SGCB | c.753+40C>T (n.753+40C>T) c.456+40C>T (n.456+40C>T) c.543+40C>T (n.543+40C>T) | gnomAD v3 gnomAD v4 |
4 | g.52027928G>C | CA1457429096 | SGCB | c.753+40C>G (n.753+40C>G) c.456+40C>G (n.456+40C>G) c.543+40C>G (n.543+40C>G) | dbSNP gnomAD v4 |
4 | g.52027928G= | CA1457429095 | SGCB | c.753+40C= (n.753+40C=) c.456+40C= (n.456+40C=) c.543+40C= (n.543+40C=) | |
4 | g.52027928G>T | CA2670598619 | SGCB | c.753+40C>A (n.753+40C>A) c.456+40C>A (n.456+40C>A) c.543+40C>A (n.543+40C>A) | gnomAD v4 |
4 | g.52027929A= | CA1457429097 | SGCB | c.753+39T= (n.753+39T=) c.456+39T= (n.456+39T=) c.543+39T= (n.543+39T=) | |
4 | g.52027929A>G | CA2918298 | SGCB | c.753+39T>C (n.753+39T>C) c.456+39T>C (n.456+39T>C) c.543+39T>C (n.543+39T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027931C>A | CA796086966 | SGCB | c.753+37G>T (n.753+37G>T) c.456+37G>T (n.456+37G>T) c.543+37G>T (n.543+37G>T) | dbSNP gnomAD v4 |
4 | g.52027931C= | CA1457429098 | SGCB | c.753+37G= (n.753+37G=) c.456+37G= (n.456+37G=) c.543+37G= (n.543+37G=) | |
4 | g.52027931C>T | CA2578086604 | SGCB | c.753+37G>A (n.753+37G>A) c.456+37G>A (n.456+37G>A) c.543+37G>A (n.543+37G>A) | gnomAD v4 |
4 | g.52027932C>A | CA2670598620 | SGCB | c.753+36G>T (n.753+36G>T) c.456+36G>T (n.456+36G>T) c.543+36G>T (n.543+36G>T) | gnomAD v4 |
4 | g.52027932C>G | CA2670598621 | SGCB | c.753+36G>C (n.753+36G>C) c.456+36G>C (n.456+36G>C) c.543+36G>C (n.543+36G>C) | gnomAD v4 |
4 | g.52027935del | CA2578086605 | SGCB | c.753+34del (n.753+34del) c.456+34del (n.456+34del) c.543+34del (n.543+34del) | |
4 | g.52027935A= | CA1457429099 | SGCB | c.753+33T= (n.753+33T=) c.456+33T= (n.456+33T=) c.543+33T= (n.543+33T=) | |
4 | g.52027935A>G | CA796086977 | SGCB | c.753+33T>C (n.753+33T>C) c.456+33T>C (n.456+33T>C) c.543+33T>C (n.543+33T>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52027938dup | CA2670598622 | SGCB | c.753+31dup (n.753+31dup) c.456+31dup (n.456+31dup) c.543+31dup (n.543+31dup) | gnomAD v4 |
4 | g.52027938del | CA2578086606 | SGCB | c.753+31del (n.753+31del) c.456+31del (n.456+31del) c.543+31del (n.543+31del) | |
4 | g.52027938A= | CA1457429100 | SGCB | c.753+30T= (n.753+30T=) c.456+30T= (n.456+30T=) c.543+30T= (n.543+30T=) | |
4 | g.52027938A>C | CA2918299 | SGCB | c.753+30T>G (n.753+30T>G) c.456+30T>G (n.456+30T>G) c.543+30T>G (n.543+30T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027938A>G | CA2670598623 | SGCB | c.753+30T>C (n.753+30T>C) c.456+30T>C (n.456+30T>C) c.543+30T>C (n.543+30T>C) | gnomAD v4 |
4 | g.52027941C>A | CA2918300 | SGCB | c.753+27G>T (n.753+27G>T) c.456+27G>T (n.456+27G>T) c.543+27G>T (n.543+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027941C= | CA1457429101 | SGCB | c.753+27G= (n.753+27G=) c.456+27G= (n.456+27G=) c.543+27G= (n.543+27G=) | |
4 | g.52027941C>T | CA649369121 | SGCB | c.753+27G>A (n.753+27G>A) c.456+27G>A (n.456+27G>A) c.543+27G>A (n.543+27G>A) | COSMIC |
4 | g.52027943C>T | CA2578086607 | SGCB | c.753+25G>A (n.753+25G>A) c.456+25G>A (n.456+25G>A) c.543+25G>A (n.543+25G>A) | |
4 | g.52027945T>C | CA2670598624 | SGCB | c.753+23A>G (n.753+23A>G) c.456+23A>G (n.456+23A>G) c.543+23A>G (n.543+23A>G) | gnomAD v4 |
4 | g.52027948G>A | CA2739265883 | SGCB | c.753+20C>T (n.753+20C>T) c.456+20C>T (n.456+20C>T) c.543+20C>T (n.543+20C>T) | ClinVar |
4 | g.52027948G>T | CA2670598625 | SGCB | c.753+20C>A (n.753+20C>A) c.456+20C>A (n.456+20C>A) c.543+20C>A (n.543+20C>A) | gnomAD v4 |
4 | g.52027949C>A | CA2578086608 | SGCB | c.753+19G>T (n.753+19G>T) c.456+19G>T (n.456+19G>T) c.543+19G>T (n.543+19G>T) | |
4 | g.52027949C= | CA1457429102 | SGCB | c.753+19G= (n.753+19G=) c.456+19G= (n.456+19G=) c.543+19G= (n.543+19G=) | |
4 | g.52027949C>T | CA2918301 | SGCB | c.753+19G>A (n.753+19G>A) c.456+19G>A (n.456+19G>A) c.543+19G>A (n.543+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52027950T>G | CA2578086609 | SGCB | c.753+18A>C (n.753+18A>C) c.456+18A>C (n.456+18A>C) c.543+18A>C (n.543+18A>C) | |
4 | g.52027951C= | CA1457429103 | SGCB | c.753+17G= (n.753+17G=) c.456+17G= (n.456+17G=) c.543+17G= (n.543+17G=) | |
4 | g.52027951C>G | CA96776221 | SGCB | c.753+17G>C (n.753+17G>C) c.456+17G>C (n.456+17G>C) c.543+17G>C (n.543+17G>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52027953T>C | CA2578086610 | SGCB | c.753+15A>G (n.753+15A>G) c.456+15A>G (n.456+15A>G) c.543+15A>G (n.543+15A>G) | |
4 | g.52027956_52027960del | CA2670598626 | SGCB | c.753+10_753+14del (n.753+10_753+14del) c.456+10_456+14del (n.456+10_456+14del) c.543+10_543+14del (n.543+10_543+14del) | gnomAD v4 |
4 | g.52027955_52027958delinsAAAG | CA1457429104 | SGCB | c.753+10_753+13delinsCTTT (n.753+10_753+13delinsCTTT) c.456+10_456+13delinsCTTT (n.456+10_456+13delinsCTTT) c.543+10_543+13delinsCTTT (n.543+10_543+13delinsCTTT) | |
4 | g.52027956A>G | CA2578086611 | SGCB | c.753+12T>C (n.753+12T>C) c.456+12T>C (n.456+12T>C) c.543+12T>C (n.543+12T>C) | |
4 | g.52027958_52027960del | CA2918302 | SGCB | c.753+10_753+12del (n.753+10_753+12del) c.456+10_456+12del (n.456+10_456+12del) c.543+10_543+12del (n.543+10_543+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027958G= | CA1457429106 | SGCB | c.753+10C= (n.753+10C=) c.456+10C= (n.456+10C=) c.543+10C= (n.543+10C=) | |
4 | g.52027958G>T | CA1457429105 | SGCB | c.753+10C>A (n.753+10C>A) c.456+10C>A (n.456+10C>A) c.543+10C>A (n.543+10C>A) | dbSNP |
4 | g.52027959A>T | CA2670598627 | SGCB | c.753+9T>A (n.753+9T>A) c.456+9T>A (n.456+9T>A) c.543+9T>A (n.543+9T>A) | gnomAD v4 |
4 | g.52027960A= | CA1457429107 | SGCB | c.753+8T= (n.753+8T=) c.456+8T= (n.456+8T=) c.543+8T= (n.543+8T=) | |
4 | g.52027960A>C | CA2918303 | SGCB | c.753+8T>G (n.753+8T>G) c.456+8T>G (n.456+8T>G) c.543+8T>G (n.543+8T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027961T>A | CA2499217222 | SGCB | c.753+7A>T (n.753+7A>T) c.456+7A>T (n.456+7A>T) c.543+7A>T (n.543+7A>T) | ClinVar dbSNP |
4 | g.52027961T>C | CA2573137889 | SGCB | c.753+7A>G (n.753+7A>G) c.456+7A>G (n.456+7A>G) c.543+7A>G (n.543+7A>G) | ClinVar dbSNP |
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.52027963C= | CA1457429108 | SGCB | c.753+5G= (n.753+5G=) c.456+5G= (n.456+5G=) c.543+5G= (n.543+5G=) | |
4 | g.52027963C>G | CA1457429109 | SGCB | c.753+5G>C (n.753+5G>C) c.456+5G>C (n.456+5G>C) c.543+5G>C (n.543+5G>C) | dbSNP |
4 | g.52027963C>T | CA96776231 | SGCB | c.753+5G>A (n.753+5G>A) c.456+5G>A (n.456+5G>A) c.543+5G>A (n.543+5G>A) | ClinVar dbSNP 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) | |
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=) | |
4 | g.52027989A>G | CA439273626 | SGCB | c.732T>C (p.Gly244=) c.435T>C (p.Gly145=) c.522T>C (p.Gly174=) | |
4 | g.52027989A>T | CA439273627 | SGCB | c.732T>A (p.Gly244=) c.435T>A (p.Gly145=) c.522T>A (p.Gly174=) | |
4 | g.52027990C>A | CA356875780 | SGCB | c.731G>T (p.Gly244Val) c.434G>T (p.Gly145Val) c.521G>T (p.Gly174Val) | gnomAD v4 |
4 | g.52027990C= | CA1457429123 | SGCB | c.731G= (p.Gly244=) c.434G= (p.Gly145=) c.521G= (p.Gly174=) | |
4 | g.52027990C>G | CA356875781 | SGCB | c.731G>C (p.Gly244Ala) c.434G>C (p.Gly145Ala) c.521G>C (p.Gly174Ala) | |
4 | g.52027990C>T | CA2918309 | SGCB | c.731G>A (p.Gly244Asp) c.434G>A (p.Gly145Asp) c.521G>A (p.Gly174Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027991C>A | CA356875784 | SGCB | c.730G>T (p.Gly244Cys) c.433G>T (p.Gly145Cys) c.520G>T (p.Gly174Cys) | |
4 | g.52027991C>G | CA356875783 | SGCB | c.730G>C (p.Gly244Arg) c.433G>C (p.Gly145Arg) c.520G>C (p.Gly174Arg) | gnomAD v4 |
4 | g.52027991C>T | CA356875782 | SGCB | c.730G>A (p.Gly244Ser) c.433G>A (p.Gly145Ser) c.520G>A (p.Gly174Ser) | |
4 | g.52027992C>A | CA356875785 | SGCB | c.729G>T (p.Met243Ile) c.432G>T (p.Met144Ile) c.519G>T (p.Met173Ile) | |
4 | g.52027992C>G | CA356875786 | SGCB | c.729G>C (p.Met243Ile) c.432G>C (p.Met144Ile) c.519G>C (p.Met173Ile) | ClinVar dbSNP gnomAD v4 |
4 | g.52027992C>T | CA356875787 | SGCB | c.729G>A (p.Met243Ile) c.432G>A (p.Met144Ile) c.519G>A (p.Met173Ile) | |
4 | g.52027993A>C | CA356875788 | SGCB | c.728T>G (p.Met243Arg) c.431T>G (p.Met144Arg) c.518T>G (p.Met173Arg) | |
4 | g.52027993A>G | CA356875789 | SGCB | c.728T>C (p.Met243Thr) c.431T>C (p.Met144Thr) c.518T>C (p.Met173Thr) | |
4 | g.52027993A>T | CA356875790 | SGCB | c.728T>A (p.Met243Lys) c.431T>A (p.Met144Lys) c.518T>A (p.Met173Lys) | |
4 | g.52027994T>A | CA356875791 | SGCB | c.727A>T (p.Met243Leu) c.430A>T (p.Met144Leu) c.517A>T (p.Met173Leu) | gnomAD v4 |
4 | g.52027994T>C | CA2918310 | SGCB | c.727A>G (p.Met243Val) c.430A>G (p.Met144Val) c.517A>G (p.Met173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027994T>G | CA356875792 | SGCB | c.727A>C (p.Met243Leu) c.430A>C (p.Met144Leu) c.517A>C (p.Met173Leu) | |
4 | g.52027994T= | CA1457429124 | SGCB | c.727A= (p.Met243=) c.430A= (p.Met144=) c.517A= (p.Met173=) | |
4 | g.52027995G>A | CA2918311 | SGCB | c.726C>T (p.His242=) c.429C>T (p.His143=) c.516C>T (p.His172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52027995G>C | CA356875793 | SGCB | c.726C>G (p.His242Gln) c.429C>G (p.His143Gln) c.516C>G (p.His172Gln) | |
4 | g.52027995G= | CA1457429125 | SGCB | c.726C= (p.His242=) c.429C= (p.His143=) c.516C= (p.His172=) | |
4 | g.52027995G>T | CA356875794 | SGCB | c.726C>A (p.His242Gln) c.429C>A (p.His143Gln) c.516C>A (p.His172Gln) | |
4 | g.52027996T>A | CA356875795 | SGCB | c.725A>T (p.His242Leu) c.428A>T (p.His143Leu) c.515A>T (p.His172Leu) | |
4 | g.52027996T>C | CA356875796 | SGCB | c.725A>G (p.His242Arg) c.428A>G (p.His143Arg) c.515A>G (p.His172Arg) | |
4 | g.52027996T>G | CA356875797 | SGCB | c.725A>C (p.His242Pro) c.428A>C (p.His143Pro) c.515A>C (p.His172Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.52027996T= | CA1457429126 | SGCB | c.725A= (p.His242=) c.428A= (p.His143=) c.515A= (p.His172=) | |
4 | g.52027997G>A | CA356875798 | SGCB | c.724C>T (p.His242Tyr) c.427C>T (p.His143Tyr) c.514C>T (p.His172Tyr) | |
4 | g.52027997G>C | CA356875799 | SGCB | c.724C>G (p.His242Asp) c.427C>G (p.His143Asp) c.514C>G (p.His172Asp) | |
4 | g.52027997G>T | CA356875800 | SGCB | c.724C>A (p.His242Asn) c.427C>A (p.His143Asn) c.514C>A (p.His172Asn) | |
4 | g.52027998A>C | CA356875801 | SGCB | c.723T>G (p.Phe241Leu) c.426T>G (p.Phe142Leu) c.513T>G (p.Phe171Leu) | gnomAD v4 |
4 | g.52027998A>G | CA439273636 | SGCB | c.723T>C (p.Phe241=) c.426T>C (p.Phe142=) c.513T>C (p.Phe171=) | |
4 | g.52027998A>T | CA356875802 | SGCB | c.723T>A (p.Phe241Leu) c.426T>A (p.Phe142Leu) c.513T>A (p.Phe171Leu) | |
4 | g.52027999A>C | CA356875805 | SGCB | c.722T>G (p.Phe241Cys) c.425T>G (p.Phe142Cys) c.512T>G (p.Phe171Cys) | |
4 | g.52027999A>G | CA356875804 | SGCB | c.722T>C (p.Phe241Ser) c.425T>C (p.Phe142Ser) c.512T>C (p.Phe171Ser) | |
4 | g.52027999A>T | CA356875803 | SGCB | c.722T>A (p.Phe241Tyr) c.425T>A (p.Phe142Tyr) c.512T>A (p.Phe171Tyr) | |
4 | g.52028000A= | CA1457429127 | SGCB | c.721T= (p.Phe241=) c.424T= (p.Phe142=) c.511T= (p.Phe171=) | |
4 | g.52028000A>C | CA356875806 | SGCB | c.721T>G (p.Phe241Val) c.424T>G (p.Phe142Val) c.511T>G (p.Phe171Val) | |
4 | g.52028000A>G | CA356875807 | SGCB | c.721T>C (p.Phe241Leu) c.424T>C (p.Phe142Leu) c.511T>C (p.Phe171Leu) | |
4 | g.52028000A>T | CA356875808 | SGCB | c.721T>A (p.Phe241Ile) c.424T>A (p.Phe142Ile) c.511T>A (p.Phe171Ile) | dbSNP |
4 | g.52028001T>A | CA356875809 | SGCB | c.720A>T (p.Glu240Asp) c.423A>T (p.Glu141Asp) c.510A>T (p.Glu170Asp) | |
4 | g.52028001T>C | CA439273639 | SGCB | c.720A>G (p.Glu240=) c.423A>G (p.Glu141=) c.510A>G (p.Glu170=) | |
4 | g.52028001T>G | CA356875810 | SGCB | c.720A>C (p.Glu240Asp) c.423A>C (p.Glu141Asp) c.510A>C (p.Glu170Asp) | |
4 | g.52028002T>A | CA2918312 | SGCB | c.719A>T (p.Glu240Val) c.422A>T (p.Glu141Val) c.509A>T (p.Glu170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028002T>C | CA356875811 | SGCB | c.719A>G (p.Glu240Gly) c.422A>G (p.Glu141Gly) c.509A>G (p.Glu170Gly) | |
4 | g.52028002T>G | CA356875812 | SGCB | c.719A>C (p.Glu240Ala) c.422A>C (p.Glu141Ala) c.509A>C (p.Glu170Ala) | gnomAD v4 |
4 | g.52028002T= | CA1457429128 | SGCB | c.719A= (p.Glu240=) c.422A= (p.Glu141=) c.509A= (p.Glu170=) | |
4 | g.52028003C>A | CA356875813 | SGCB | c.718G>T (p.Glu240Ter) c.421G>T (p.Glu141Ter) c.508G>T (p.Glu170Ter) | |
4 | g.52028003C= | CA1457429129 | SGCB | c.718G= (p.Glu240=) c.421G= (p.Glu141=) c.508G= (p.Glu170=) | |
4 | g.52028003C>G | CA356875814 | SGCB | c.718G>C (p.Glu240Gln) c.421G>C (p.Glu141Gln) c.508G>C (p.Glu170Gln) | |
4 | g.52028003C>T | CA356875815 | SGCB | c.718G>A (p.Glu240Lys) c.421G>A (p.Glu141Lys) c.508G>A (p.Glu170Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.52028004A>C | CA356875816 | SGCB | c.717T>G (p.Ile239Met) c.420T>G (p.Ile140Met) c.507T>G (p.Ile169Met) | |
4 | g.52028004A>G | CA439273644 | SGCB | c.717T>C (p.Ile239=) c.420T>C (p.Ile140=) c.507T>C (p.Ile169=) | |
4 | g.52028004A>T | CA439273645 | SGCB | c.717T>A (p.Ile239=) c.420T>A (p.Ile140=) c.507T>A (p.Ile169=) | |
4 | g.52028005A= | CA1457429130 | SGCB | c.716T= (p.Ile239=) c.419T= (p.Ile140=) c.506T= (p.Ile169=) | |
4 | g.52028005A>C | CA356875818 | SGCB | c.716T>G (p.Ile239Ser) c.419T>G (p.Ile140Ser) c.506T>G (p.Ile169Ser) | |
4 | g.52028005A>G | CA2918313 | SGCB | c.716T>C (p.Ile239Thr) c.419T>C (p.Ile140Thr) c.506T>C (p.Ile169Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028005A>T | CA356875817 | SGCB | c.716T>A (p.Ile239Asn) c.419T>A (p.Ile140Asn) c.506T>A (p.Ile169Asn) | |
4 | g.52028006T>A | CA356875819 | SGCB | c.715A>T (p.Ile239Phe) c.418A>T (p.Ile140Phe) c.505A>T (p.Ile169Phe) | |
4 | g.52028006T>C | CA96776361 | SGCB | c.715A>G (p.Ile239Val) c.418A>G (p.Ile140Val) c.505A>G (p.Ile169Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028006T>G | CA356875820 | SGCB | c.715A>C (p.Ile239Leu) c.418A>C (p.Ile140Leu) c.505A>C (p.Ile169Leu) | |
4 | g.52028006T= | CA1457429131 | SGCB | c.715A= (p.Ile239=) c.418A= (p.Ile140=) c.505A= (p.Ile169=) | |
4 | g.52028007G>A | CA439273651 | SGCB | c.714C>T (p.Thr238=) c.417C>T (p.Thr139=) c.504C>T (p.Thr168=) | COSMIC |
4 | g.52028007G>C | CA439273653 | SGCB | c.714C>G (p.Thr238=) c.417C>G (p.Thr139=) c.504C>G (p.Thr168=) | |
4 | g.52028007G>T | CA439273652 | SGCB | c.714C>A (p.Thr238=) c.417C>A (p.Thr139=) c.504C>A (p.Thr168=) | |
4 | g.52028008G>A | CA356875821 | SGCB | c.713C>T (p.Thr238Ile) c.416C>T (p.Thr139Ile) c.503C>T (p.Thr168Ile) | |
4 | g.52028008G>C | CA356875822 | SGCB | c.713C>G (p.Thr238Ser) c.416C>G (p.Thr139Ser) c.503C>G (p.Thr168Ser) | |
4 | g.52028008G>T | CA356875823 | SGCB | c.713C>A (p.Thr238Asn) c.416C>A (p.Thr139Asn) c.503C>A (p.Thr168Asn) | |
4 | g.52028009T>A | CA356875824 | SGCB | c.712A>T (p.Thr238Ser) c.415A>T (p.Thr139Ser) c.502A>T (p.Thr168Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028009T>C | CA356875826 | SGCB | c.712A>G (p.Thr238Ala) c.415A>G (p.Thr139Ala) c.502A>G (p.Thr168Ala) | |
4 | g.52028009T>G | CA356875825 | SGCB | c.712A>C (p.Thr238Pro) c.415A>C (p.Thr139Pro) c.502A>C (p.Thr168Pro) | |
4 | g.52028009T= | CA1457429132 | SGCB | c.712A= (p.Thr238=) c.415A= (p.Thr139=) c.502A= (p.Thr168=) | |
4 | g.52028010T>A | CA356875827 | SGCB | c.711A>T (p.Lys237Asn) c.414A>T (p.Lys138Asn) c.501A>T (p.Lys167Asn) | |
4 | g.52028010T>C | CA439273660 | SGCB | c.711A>G (p.Lys237=) c.414A>G (p.Lys138=) c.501A>G (p.Lys167=) | |
4 | g.52028010T>G | CA356875828 | SGCB | c.711A>C (p.Lys237Asn) c.414A>C (p.Lys138Asn) c.501A>C (p.Lys167Asn) | |
4 | g.52028011T>A | CA356875829 | SGCB | c.710A>T (p.Lys237Ile) c.413A>T (p.Lys138Ile) c.500A>T (p.Lys167Ile) | |
4 | g.52028011T>C | CA356875830 | SGCB | c.710A>G (p.Lys237Arg) c.413A>G (p.Lys138Arg) c.500A>G (p.Lys167Arg) | |
4 | g.52028011T>G | CA356875831 | SGCB | c.710A>C (p.Lys237Thr) c.413A>C (p.Lys138Thr) c.500A>C (p.Lys167Thr) | |
4 | g.52028012T>A | CA356875833 | SGCB | c.709A>T (p.Lys237Ter) c.412A>T (p.Lys138Ter) c.499A>T (p.Lys167Ter) | |
4 | g.52028012T>C | CA356875834 | SGCB | c.709A>G (p.Lys237Glu) c.412A>G (p.Lys138Glu) c.499A>G (p.Lys167Glu) | |
4 | g.52028012T>G | CA356875832 | SGCB | c.709A>C (p.Lys237Gln) c.412A>C (p.Lys138Gln) c.499A>C (p.Lys167Gln) | |
4 | g.52028013G>A | CA2918314 | SGCB | c.708C>T (p.Gly236=) c.411C>T (p.Gly137=) c.498C>T (p.Gly166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028013G>C | CA439273663 | SGCB | c.708C>G (p.Gly236=) c.411C>G (p.Gly137=) c.498C>G (p.Gly166=) | |
4 | g.52028013G= | CA1457429133 | SGCB | c.708C= (p.Gly236=) c.411C= (p.Gly137=) c.498C= (p.Gly166=) | |
4 | g.52028013G>T | CA439273664 | SGCB | c.708C>A (p.Gly236=) c.411C>A (p.Gly137=) c.498C>A (p.Gly166=) | |
4 | g.52028024_52028025insAAGCCCATAATGAA | CA2580071061 | SGCB | c.708_709insTTTTCATTATGGGC (p.Lys237PhefsTer18) c.411_412insTTTTCATTATGGGC (p.Lys138PhefsTer18) c.498_499insTTTTCATTATGGGC (p.Lys167PhefsTer18) | ClinVar |
4 | g.52028014C>A | CA356875835 | SGCB | c.707G>T (p.Gly236Val) c.410G>T (p.Gly137Val) c.497G>T (p.Gly166Val) | |
4 | g.52028014C= | CA1457429134 | SGCB | c.707G= (p.Gly236=) c.410G= (p.Gly137=) c.497G= (p.Gly166=) | |
4 | g.52028014C>G | CA356875837 | SGCB | c.707G>C (p.Gly236Ala) c.410G>C (p.Gly137Ala) c.497G>C (p.Gly166Ala) | |
4 | g.52028014C>T | CA356875836 | SGCB | c.707G>A (p.Gly236Asp) c.410G>A (p.Gly137Asp) c.497G>A (p.Gly166Asp) | ClinVar dbSNP gnomAD v4 |
4 | g.52028015C>A | CA356875838 | SGCB | c.706G>T (p.Gly236Cys) c.409G>T (p.Gly137Cys) c.496G>T (p.Gly166Cys) | |
4 | g.52028015C>G | CA356875840 | SGCB | c.706G>C (p.Gly236Arg) c.409G>C (p.Gly137Arg) c.496G>C (p.Gly166Arg) | |
4 | g.52028015C>T | CA356875839 | SGCB | c.706G>A (p.Gly236Ser) c.409G>A (p.Gly137Ser) c.496G>A (p.Gly166Ser) |