Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.52027926A=CA1457429094SGCBc.753+42T= (n.753+42T=)
c.456+42T= (n.456+42T=)
c.543+42T= (n.543+42T=)
4g.52027926A>GCA2918297SGCBc.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
4g.52027928G>ACA2597764737SGCBc.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
4g.52027928G>CCA1457429096SGCBc.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
4g.52027928G=CA1457429095SGCBc.753+40C= (n.753+40C=)
c.456+40C= (n.456+40C=)
c.543+40C= (n.543+40C=)
4g.52027928G>TCA2670598619SGCBc.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
4g.52027929A=CA1457429097SGCBc.753+39T= (n.753+39T=)
c.456+39T= (n.456+39T=)
c.543+39T= (n.543+39T=)
4g.52027929A>GCA2918298SGCBc.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
4g.52027931C>ACA796086966SGCBc.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
4g.52027931C=CA1457429098SGCBc.753+37G= (n.753+37G=)
c.456+37G= (n.456+37G=)
c.543+37G= (n.543+37G=)
4g.52027931C>TCA2578086604SGCBc.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
4g.52027932C>ACA2670598620SGCBc.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
4g.52027932C>GCA2670598621SGCBc.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
4g.52027935delCA2578086605SGCBc.753+34del (n.753+34del)
c.456+34del (n.456+34del)
c.543+34del (n.543+34del)
4g.52027935A=CA1457429099SGCBc.753+33T= (n.753+33T=)
c.456+33T= (n.456+33T=)
c.543+33T= (n.543+33T=)
4g.52027935A>GCA796086977SGCBc.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
4g.52027938dupCA2670598622SGCBc.753+31dup (n.753+31dup)
c.456+31dup (n.456+31dup)
c.543+31dup (n.543+31dup)
 gnomAD v4
4g.52027938delCA2578086606SGCBc.753+31del (n.753+31del)
c.456+31del (n.456+31del)
c.543+31del (n.543+31del)
4g.52027938A=CA1457429100SGCBc.753+30T= (n.753+30T=)
c.456+30T= (n.456+30T=)
c.543+30T= (n.543+30T=)
4g.52027938A>CCA2918299SGCBc.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
4g.52027938A>GCA2670598623SGCBc.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
4g.52027941C>ACA2918300SGCBc.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
4g.52027941C=CA1457429101SGCBc.753+27G= (n.753+27G=)
c.456+27G= (n.456+27G=)
c.543+27G= (n.543+27G=)
4g.52027941C>TCA649369121SGCBc.753+27G>A (n.753+27G>A)
c.456+27G>A (n.456+27G>A)
c.543+27G>A (n.543+27G>A)
 COSMIC
4g.52027943C>TCA2578086607SGCBc.753+25G>A (n.753+25G>A)
c.456+25G>A (n.456+25G>A)
c.543+25G>A (n.543+25G>A)
4g.52027945T>CCA2670598624SGCBc.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
4g.52027948G>ACA2739265883SGCBc.753+20C>T (n.753+20C>T)
c.456+20C>T (n.456+20C>T)
c.543+20C>T (n.543+20C>T)
 ClinVar
4g.52027948G>TCA2670598625SGCBc.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
4g.52027949C>ACA2578086608SGCBc.753+19G>T (n.753+19G>T)
c.456+19G>T (n.456+19G>T)
c.543+19G>T (n.543+19G>T)
4g.52027949C=CA1457429102SGCBc.753+19G= (n.753+19G=)
c.456+19G= (n.456+19G=)
c.543+19G= (n.543+19G=)
4g.52027949C>TCA2918301SGCBc.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
4g.52027950T>GCA2578086609SGCBc.753+18A>C (n.753+18A>C)
c.456+18A>C (n.456+18A>C)
c.543+18A>C (n.543+18A>C)
4g.52027951C=CA1457429103SGCBc.753+17G= (n.753+17G=)
c.456+17G= (n.456+17G=)
c.543+17G= (n.543+17G=)
4g.52027951C>GCA96776221SGCBc.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
4g.52027953T>CCA2578086610SGCBc.753+15A>G (n.753+15A>G)
c.456+15A>G (n.456+15A>G)
c.543+15A>G (n.543+15A>G)
4g.52027956_52027960delCA2670598626SGCBc.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
4g.52027955_52027958delinsAAAGCA1457429104SGCBc.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)
4g.52027956A>GCA2578086611SGCBc.753+12T>C (n.753+12T>C)
c.456+12T>C (n.456+12T>C)
c.543+12T>C (n.543+12T>C)
4g.52027958_52027960delCA2918302SGCBc.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
4g.52027958G=CA1457429106SGCBc.753+10C= (n.753+10C=)
c.456+10C= (n.456+10C=)
c.543+10C= (n.543+10C=)
4g.52027958G>TCA1457429105SGCBc.753+10C>A (n.753+10C>A)
c.456+10C>A (n.456+10C>A)
c.543+10C>A (n.543+10C>A)
 dbSNP
4g.52027959A>TCA2670598627SGCBc.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
4g.52027960A=CA1457429107SGCBc.753+8T= (n.753+8T=)
c.456+8T= (n.456+8T=)
c.543+8T= (n.543+8T=)
4g.52027960A>CCA2918303SGCBc.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
4g.52027961T>ACA2499217222SGCBc.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
4g.52027961T>CCA2573137889SGCBc.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
4g.52027964_52027967delCA2670598628SGCBc.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
4g.52027963C=CA1457429108SGCBc.753+5G= (n.753+5G=)
c.456+5G= (n.456+5G=)
c.543+5G= (n.543+5G=)
4g.52027963C>GCA1457429109SGCBc.753+5G>C (n.753+5G>C)
c.456+5G>C (n.456+5G>C)
c.543+5G>C (n.543+5G>C)
 dbSNP
4g.52027963C>TCA96776231SGCBc.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
4g.52027964T>CCA96776236SGCBc.753+4A>G (n.753+4A>G)
c.456+4A>G (n.456+4A>G)
c.543+4A>G (n.543+4A>G)
 dbSNP
4g.52027964T=CA1457429110SGCBc.753+4A= (n.753+4A=)
c.456+4A= (n.456+4A=)
c.543+4A= (n.543+4A=)
4g.52027966A>CCA356875726SGCBc.753+2T>G (n.753+2T>G)
c.456+2T>G (n.456+2T>G)
c.543+2T>G (n.543+2T>G)
4g.52027966A>GCA356875727SGCBc.753+2T>C (n.753+2T>C)
c.456+2T>C (n.456+2T>C)
c.543+2T>C (n.543+2T>C)
4g.52027966A>TCA356875728SGCBc.753+2T>A (n.753+2T>A)
c.456+2T>A (n.456+2T>A)
c.543+2T>A (n.543+2T>A)
4g.52027967C>ACA356875729SGCBc.753+1G>T (n.753+1G>T)
c.456+1G>T (n.456+1G>T)
c.543+1G>T (n.543+1G>T)
4g.52027967C>GCA356875730SGCBc.753+1G>C (n.753+1G>C)
c.456+1G>C (n.456+1G>C)
c.543+1G>C (n.543+1G>C)
4g.52027967C>TCA356875731SGCBc.753+1G>A (n.753+1G>A)
c.456+1G>A (n.456+1G>A)
c.543+1G>A (n.543+1G>A)
4g.52027968C>ACA439273600SGCBc.753G>T (p.Ala251=)
c.456G>T (p.Ala152=)
c.543G>T (p.Ala181=)
4g.52027968C=CA1457429111SGCBc.753G= (p.Ala251=)
c.456G= (p.Ala152=)
c.543G= (p.Ala181=)
4g.52027968C>GCA439273601SGCBc.753G>C (p.Ala251=)
c.456G>C (p.Ala152=)
c.543G>C (p.Ala181=)
4g.52027968C>TCA439273602SGCBc.753G>A (p.Ala251=)
c.456G>A (p.Ala152=)
c.543G>A (p.Ala181=)
 dbSNP gnomAD v4
4g.52027969G>ACA2918304SGCBc.752C>T (p.Ala251Val)
c.455C>T (p.Ala152Val)
c.542C>T (p.Ala181Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027969G>CCA356875732SGCBc.752C>G (p.Ala251Gly)
c.455C>G (p.Ala152Gly)
c.542C>G (p.Ala181Gly)
4g.52027969G=CA1457429112SGCBc.752C= (p.Ala251=)
c.455C= (p.Ala152=)
c.542C= (p.Ala181=)
4g.52027969G>TCA356875733SGCBc.752C>A (p.Ala251Glu)
c.455C>A (p.Ala152Glu)
c.542C>A (p.Ala181Glu)
 gnomAD v4
4g.52027970C>ACA356875736SGCBc.751G>T (p.Ala251Ser)
c.454G>T (p.Ala152Ser)
c.541G>T (p.Ala181Ser)
4g.52027970C=CA1457429113SGCBc.751G= (p.Ala251=)
c.454G= (p.Ala152=)
c.541G= (p.Ala181=)
4g.52027970C>GCA356875735SGCBc.751G>C (p.Ala251Pro)
c.454G>C (p.Ala152Pro)
c.541G>C (p.Ala181Pro)
4g.52027970C>TCA356875734SGCBc.751G>A (p.Ala251Thr)
c.454G>A (p.Ala152Thr)
c.541G>A (p.Ala181Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.52027971C>ACA2918305SGCBc.750G>T (p.Lys250Asn)
c.453G>T (p.Lys151Asn)
c.540G>T (p.Lys180Asn)
 dbSNP ExAC gnomAD v4
4g.52027971C=CA1457429115SGCBc.750G= (p.Lys250=)
c.453G= (p.Lys151=)
c.540G= (p.Lys180=)
4g.52027971C>GCA356875737SGCBc.750G>C (p.Lys250Asn)
c.453G>C (p.Lys151Asn)
c.540G>C (p.Lys180Asn)
4g.52027971C>TCA439273608SGCBc.750G>A (p.Lys250=)
c.453G>A (p.Lys151=)
c.540G>A (p.Lys180=)
 dbSNP
4g.52027971_52027972delinsCTCA1457429114SGCBc.749_750delinsAG (p.Lys250=)
c.452_453delinsAG (p.Lys151=)
c.539_540delinsAG (p.Lys180=)
4g.52027972T>ACA356875738SGCBc.749A>T (p.Lys250Met)
c.452A>T (p.Lys151Met)
c.539A>T (p.Lys180Met)
4g.52027972T>CCA356875739SGCBc.749A>G (p.Lys250Arg)
c.452A>G (p.Lys151Arg)
c.539A>G (p.Lys180Arg)
4g.52027972T>GCA356875740SGCBc.749A>C (p.Lys250Thr)
c.452A>C (p.Lys151Thr)
c.539A>C (p.Lys180Thr)
4g.52027974delCA1457429116SGCBc.749del (p.Lys250ArgfsTer8)
c.452del (p.Lys151ArgfsTer8)
c.539del (p.Lys180ArgfsTer8)
 dbSNP
4g.52027973T>ACA356875741SGCBc.748A>T (p.Lys250Ter)
c.451A>T (p.Lys151Ter)
c.538A>T (p.Lys180Ter)
4g.52027973T>CCA356875742SGCBc.748A>G (p.Lys250Glu)
c.451A>G (p.Lys151Glu)
c.538A>G (p.Lys180Glu)
4g.52027973T>GCA356875743SGCBc.748A>C (p.Lys250Gln)
c.451A>C (p.Lys151Gln)
c.538A>C (p.Lys180Gln)
4g.52027974T>ACA356875744SGCBc.747A>T (p.Leu249Phe)
c.450A>T (p.Leu150Phe)
c.537A>T (p.Leu179Phe)
4g.52027974T>CCA439273609SGCBc.747A>G (p.Leu249=)
c.450A>G (p.Leu150=)
c.537A>G (p.Leu179=)
4g.52027974T>GCA356875745SGCBc.747A>C (p.Leu249Phe)
c.450A>C (p.Leu150Phe)
c.537A>C (p.Leu179Phe)
4g.52027975A=CA1457429117SGCBc.746T= (p.Leu249=)
c.449T= (p.Leu150=)
c.536T= (p.Leu179=)
4g.52027975A>CCA356875746SGCBc.746T>G (p.Leu249Ter)
c.449T>G (p.Leu150Ter)
c.536T>G (p.Leu179Ter)
4g.52027975A>GCA356875747SGCBc.746T>C (p.Leu249Ser)
c.449T>C (p.Leu150Ser)
c.536T>C (p.Leu179Ser)
 dbSNP
4g.52027975A>TCA356875748SGCBc.746T>A (p.Leu249Ter)
c.449T>A (p.Leu150Ter)
c.536T>A (p.Leu179Ter)
4g.52027976A>CCA356875749SGCBc.745T>G (p.Leu249Val)
c.448T>G (p.Leu150Val)
c.535T>G (p.Leu179Val)
4g.52027976A>GCA439273611SGCBc.745T>C (p.Leu249=)
c.448T>C (p.Leu150=)
c.535T>C (p.Leu179=)
4g.52027976A>TCA356875750SGCBc.745T>A (p.Leu249Ile)
c.448T>A (p.Leu150Ile)
c.535T>A (p.Leu179Ile)
4g.52027977delCA2670598629SGCBc.744del (p.Glu248AspfsTer2)
c.447del (p.Glu149AspfsTer2)
c.534del (p.Glu178AspfsTer2)
 gnomAD v4
4g.52027977C>ACA356875751SGCBc.744G>T (p.Glu248Asp)
c.447G>T (p.Glu149Asp)
c.534G>T (p.Glu178Asp)
4g.52027977C=CA1457429118SGCBc.744G= (p.Glu248=)
c.447G= (p.Glu149=)
c.534G= (p.Glu178=)
4g.52027977C>GCA356875752SGCBc.744G>C (p.Glu248Asp)
c.447G>C (p.Glu149Asp)
c.534G>C (p.Glu178Asp)
4g.52027977C>TCA2918306SGCBc.744G>A (p.Glu248=)
c.447G>A (p.Glu149=)
c.534G>A (p.Glu178=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027978T>ACA356875753SGCBc.743A>T (p.Glu248Val)
c.446A>T (p.Glu149Val)
c.533A>T (p.Glu178Val)
4g.52027978T>CCA356875754SGCBc.743A>G (p.Glu248Gly)
c.446A>G (p.Glu149Gly)
c.533A>G (p.Glu178Gly)
4g.52027978T>GCA356875755SGCBc.743A>C (p.Glu248Ala)
c.446A>C (p.Glu149Ala)
c.533A>C (p.Glu178Ala)
4g.52027979C>ACA356875756SGCBc.742G>T (p.Glu248Ter)
c.445G>T (p.Glu149Ter)
c.532G>T (p.Glu178Ter)
4g.52027979C>GCA356875757SGCBc.742G>C (p.Glu248Gln)
c.445G>C (p.Glu149Gln)
c.532G>C (p.Glu178Gln)
 COSMIC
4g.52027979C>TCA356875758SGCBc.742G>A (p.Glu248Lys)
c.445G>A (p.Glu149Lys)
c.532G>A (p.Glu178Lys)
4g.52027983_52027994delCA2670598630SGCBc.731_742del (p.Gly244_Met247del)
c.434_445del (p.Gly145_Met148del)
c.521_532del (p.Gly174_Met177del)
 gnomAD v4
4g.52027980C>ACA356875759SGCBc.741G>T (p.Met247Ile)
c.444G>T (p.Met148Ile)
c.531G>T (p.Met177Ile)
4g.52027980C>GCA356875760SGCBc.741G>C (p.Met247Ile)
c.444G>C (p.Met148Ile)
c.531G>C (p.Met177Ile)
4g.52027980C>TCA356875761SGCBc.741G>A (p.Met247Ile)
c.444G>A (p.Met148Ile)
c.531G>A (p.Met177Ile)
4g.52027981A=CA1457429119SGCBc.740T= (p.Met247=)
c.443T= (p.Met148=)
c.530T= (p.Met177=)
4g.52027981A>CCA356875764SGCBc.740T>G (p.Met247Arg)
c.443T>G (p.Met148Arg)
c.530T>G (p.Met177Arg)
4g.52027981A>GCA356875762SGCBc.740T>C (p.Met247Thr)
c.443T>C (p.Met148Thr)
c.530T>C (p.Met177Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52027981A>TCA356875763SGCBc.740T>A (p.Met247Lys)
c.443T>A (p.Met148Lys)
c.530T>A (p.Met177Lys)
 gnomAD v4
4g.52027982T>ACA356875765SGCBc.739A>T (p.Met247Leu)
c.442A>T (p.Met148Leu)
c.529A>T (p.Met177Leu)
4g.52027982T>CCA356875766SGCBc.739A>G (p.Met247Val)
c.442A>G (p.Met148Val)
c.529A>G (p.Met177Val)
4g.52027982T>GCA356875767SGCBc.739A>C (p.Met247Leu)
c.442A>C (p.Met148Leu)
c.529A>C (p.Met177Leu)
4g.52027982dupCA2586973769SGCBc.739dup (p.Met247AsnfsTer?)
c.442dup (p.Met148AsnfsTer?)
c.529dup (p.Met177AsnfsTer?)
4g.52027983A=CA1457429120SGCBc.738T= (p.Asn246=)
c.441T= (p.Asn147=)
c.528T= (p.Asn176=)
4g.52027983A>CCA356875768SGCBc.738T>G (p.Asn246Lys)
c.441T>G (p.Asn147Lys)
c.528T>G (p.Asn176Lys)
4g.52027983A>GCA439273618SGCBc.738T>C (p.Asn246=)
c.441T>C (p.Asn147=)
c.528T>C (p.Asn176=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.52027983A>TCA356875769SGCBc.738T>A (p.Asn246Lys)
c.441T>A (p.Asn147Lys)
c.528T>A (p.Asn176Lys)
4g.52027984T>ACA356875770SGCBc.737A>T (p.Asn246Ile)
c.440A>T (p.Asn147Ile)
c.527A>T (p.Asn176Ile)
4g.52027984T>CCA356875771SGCBc.737A>G (p.Asn246Ser)
c.440A>G (p.Asn147Ser)
c.527A>G (p.Asn176Ser)
4g.52027984T>GCA356875772SGCBc.737A>C (p.Asn246Thr)
c.440A>C (p.Asn147Thr)
c.527A>C (p.Asn176Thr)
4g.52027985T>ACA2918307SGCBc.736A>T (p.Asn246Tyr)
c.439A>T (p.Asn147Tyr)
c.526A>T (p.Asn176Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027985T>CCA2918308SGCBc.736A>G (p.Asn246Asp)
c.439A>G (p.Asn147Asp)
c.526A>G (p.Asn176Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027985T>GCA356875773SGCBc.736A>C (p.Asn246His)
c.439A>C (p.Asn147His)
c.526A>C (p.Asn176His)
4g.52027985T=CA1457429121SGCBc.736A= (p.Asn246=)
c.439A= (p.Asn147=)
c.526A= (p.Asn176=)
4g.52027985_52027986delCA2573137890SGCBc.735_736del (p.Asn246TyrfsTer?)
c.438_439del (p.Asn147TyrfsTer?)
c.525_526del (p.Asn176TyrfsTer?)
 ClinVar dbSNP
4g.52027986A=CA1457429122SGCBc.735T= (p.Gly245=)
c.438T= (p.Gly146=)
c.525T= (p.Gly175=)
4g.52027986A>CCA439273620SGCBc.735T>G (p.Gly245=)
c.438T>G (p.Gly146=)
c.525T>G (p.Gly175=)
4g.52027986A>GCA96776298SGCBc.735T>C (p.Gly245=)
c.438T>C (p.Gly146=)
c.525T>C (p.Gly175=)
 ClinVar dbSNP gnomAD v4
4g.52027986A>TCA439273621SGCBc.735T>A (p.Gly245=)
c.438T>A (p.Gly146=)
c.525T>A (p.Gly175=)
4g.52027987C>ACA356875775SGCBc.734G>T (p.Gly245Val)
c.437G>T (p.Gly146Val)
c.524G>T (p.Gly175Val)
4g.52027987C>GCA356875776SGCBc.734G>C (p.Gly245Ala)
c.437G>C (p.Gly146Ala)
c.524G>C (p.Gly175Ala)
4g.52027987C>TCA356875774SGCBc.734G>A (p.Gly245Asp)
c.437G>A (p.Gly146Asp)
c.524G>A (p.Gly175Asp)
 gnomAD v4
4g.52027988dupCA2695199374SGCBc.734dup (p.Asn246Ter)
c.437dup (p.Asn147Ter)
c.524dup (p.Asn176Ter)
 ClinVar
4g.52027988C>ACA356875779SGCBc.733G>T (p.Gly245Cys)
c.436G>T (p.Gly146Cys)
c.523G>T (p.Gly175Cys)
4g.52027988C>GCA356875777SGCBc.733G>C (p.Gly245Arg)
c.436G>C (p.Gly146Arg)
c.523G>C (p.Gly175Arg)
4g.52027988C>TCA356875778SGCBc.733G>A (p.Gly245Ser)
c.436G>A (p.Gly146Ser)
c.523G>A (p.Gly175Ser)
4g.52027989A>CCA439273624SGCBc.732T>G (p.Gly244=)
c.435T>G (p.Gly145=)
c.522T>G (p.Gly174=)
4g.52027989A>GCA439273626SGCBc.732T>C (p.Gly244=)
c.435T>C (p.Gly145=)
c.522T>C (p.Gly174=)
4g.52027989A>TCA439273627SGCBc.732T>A (p.Gly244=)
c.435T>A (p.Gly145=)
c.522T>A (p.Gly174=)
4g.52027990C>ACA356875780SGCBc.731G>T (p.Gly244Val)
c.434G>T (p.Gly145Val)
c.521G>T (p.Gly174Val)
 gnomAD v4
4g.52027990C=CA1457429123SGCBc.731G= (p.Gly244=)
c.434G= (p.Gly145=)
c.521G= (p.Gly174=)
4g.52027990C>GCA356875781SGCBc.731G>C (p.Gly244Ala)
c.434G>C (p.Gly145Ala)
c.521G>C (p.Gly174Ala)
4g.52027990C>TCA2918309SGCBc.731G>A (p.Gly244Asp)
c.434G>A (p.Gly145Asp)
c.521G>A (p.Gly174Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027991C>ACA356875784SGCBc.730G>T (p.Gly244Cys)
c.433G>T (p.Gly145Cys)
c.520G>T (p.Gly174Cys)
4g.52027991C>GCA356875783SGCBc.730G>C (p.Gly244Arg)
c.433G>C (p.Gly145Arg)
c.520G>C (p.Gly174Arg)
 gnomAD v4
4g.52027991C>TCA356875782SGCBc.730G>A (p.Gly244Ser)
c.433G>A (p.Gly145Ser)
c.520G>A (p.Gly174Ser)
4g.52027992C>ACA356875785SGCBc.729G>T (p.Met243Ile)
c.432G>T (p.Met144Ile)
c.519G>T (p.Met173Ile)
4g.52027992C>GCA356875786SGCBc.729G>C (p.Met243Ile)
c.432G>C (p.Met144Ile)
c.519G>C (p.Met173Ile)
 ClinVar dbSNP gnomAD v4
4g.52027992C>TCA356875787SGCBc.729G>A (p.Met243Ile)
c.432G>A (p.Met144Ile)
c.519G>A (p.Met173Ile)
4g.52027993A>CCA356875788SGCBc.728T>G (p.Met243Arg)
c.431T>G (p.Met144Arg)
c.518T>G (p.Met173Arg)
4g.52027993A>GCA356875789SGCBc.728T>C (p.Met243Thr)
c.431T>C (p.Met144Thr)
c.518T>C (p.Met173Thr)
4g.52027993A>TCA356875790SGCBc.728T>A (p.Met243Lys)
c.431T>A (p.Met144Lys)
c.518T>A (p.Met173Lys)
4g.52027994T>ACA356875791SGCBc.727A>T (p.Met243Leu)
c.430A>T (p.Met144Leu)
c.517A>T (p.Met173Leu)
 gnomAD v4
4g.52027994T>CCA2918310SGCBc.727A>G (p.Met243Val)
c.430A>G (p.Met144Val)
c.517A>G (p.Met173Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52027994T>GCA356875792SGCBc.727A>C (p.Met243Leu)
c.430A>C (p.Met144Leu)
c.517A>C (p.Met173Leu)
4g.52027994T=CA1457429124SGCBc.727A= (p.Met243=)
c.430A= (p.Met144=)
c.517A= (p.Met173=)
4g.52027995G>ACA2918311SGCBc.726C>T (p.His242=)
c.429C>T (p.His143=)
c.516C>T (p.His172=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52027995G>CCA356875793SGCBc.726C>G (p.His242Gln)
c.429C>G (p.His143Gln)
c.516C>G (p.His172Gln)
4g.52027995G=CA1457429125SGCBc.726C= (p.His242=)
c.429C= (p.His143=)
c.516C= (p.His172=)
4g.52027995G>TCA356875794SGCBc.726C>A (p.His242Gln)
c.429C>A (p.His143Gln)
c.516C>A (p.His172Gln)
4g.52027996T>ACA356875795SGCBc.725A>T (p.His242Leu)
c.428A>T (p.His143Leu)
c.515A>T (p.His172Leu)
4g.52027996T>CCA356875796SGCBc.725A>G (p.His242Arg)
c.428A>G (p.His143Arg)
c.515A>G (p.His172Arg)
4g.52027996T>GCA356875797SGCBc.725A>C (p.His242Pro)
c.428A>C (p.His143Pro)
c.515A>C (p.His172Pro)
 ClinVar dbSNP gnomAD v4
4g.52027996T=CA1457429126SGCBc.725A= (p.His242=)
c.428A= (p.His143=)
c.515A= (p.His172=)
4g.52027997G>ACA356875798SGCBc.724C>T (p.His242Tyr)
c.427C>T (p.His143Tyr)
c.514C>T (p.His172Tyr)
4g.52027997G>CCA356875799SGCBc.724C>G (p.His242Asp)
c.427C>G (p.His143Asp)
c.514C>G (p.His172Asp)
4g.52027997G>TCA356875800SGCBc.724C>A (p.His242Asn)
c.427C>A (p.His143Asn)
c.514C>A (p.His172Asn)
4g.52027998A>CCA356875801SGCBc.723T>G (p.Phe241Leu)
c.426T>G (p.Phe142Leu)
c.513T>G (p.Phe171Leu)
 gnomAD v4
4g.52027998A>GCA439273636SGCBc.723T>C (p.Phe241=)
c.426T>C (p.Phe142=)
c.513T>C (p.Phe171=)
4g.52027998A>TCA356875802SGCBc.723T>A (p.Phe241Leu)
c.426T>A (p.Phe142Leu)
c.513T>A (p.Phe171Leu)
4g.52027999A>CCA356875805SGCBc.722T>G (p.Phe241Cys)
c.425T>G (p.Phe142Cys)
c.512T>G (p.Phe171Cys)
4g.52027999A>GCA356875804SGCBc.722T>C (p.Phe241Ser)
c.425T>C (p.Phe142Ser)
c.512T>C (p.Phe171Ser)
4g.52027999A>TCA356875803SGCBc.722T>A (p.Phe241Tyr)
c.425T>A (p.Phe142Tyr)
c.512T>A (p.Phe171Tyr)
4g.52028000A=CA1457429127SGCBc.721T= (p.Phe241=)
c.424T= (p.Phe142=)
c.511T= (p.Phe171=)
4g.52028000A>CCA356875806SGCBc.721T>G (p.Phe241Val)
c.424T>G (p.Phe142Val)
c.511T>G (p.Phe171Val)
4g.52028000A>GCA356875807SGCBc.721T>C (p.Phe241Leu)
c.424T>C (p.Phe142Leu)
c.511T>C (p.Phe171Leu)
4g.52028000A>TCA356875808SGCBc.721T>A (p.Phe241Ile)
c.424T>A (p.Phe142Ile)
c.511T>A (p.Phe171Ile)
 dbSNP
4g.52028001T>ACA356875809SGCBc.720A>T (p.Glu240Asp)
c.423A>T (p.Glu141Asp)
c.510A>T (p.Glu170Asp)
4g.52028001T>CCA439273639SGCBc.720A>G (p.Glu240=)
c.423A>G (p.Glu141=)
c.510A>G (p.Glu170=)
4g.52028001T>GCA356875810SGCBc.720A>C (p.Glu240Asp)
c.423A>C (p.Glu141Asp)
c.510A>C (p.Glu170Asp)
4g.52028002T>ACA2918312SGCBc.719A>T (p.Glu240Val)
c.422A>T (p.Glu141Val)
c.509A>T (p.Glu170Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028002T>CCA356875811SGCBc.719A>G (p.Glu240Gly)
c.422A>G (p.Glu141Gly)
c.509A>G (p.Glu170Gly)
4g.52028002T>GCA356875812SGCBc.719A>C (p.Glu240Ala)
c.422A>C (p.Glu141Ala)
c.509A>C (p.Glu170Ala)
 gnomAD v4
4g.52028002T=CA1457429128SGCBc.719A= (p.Glu240=)
c.422A= (p.Glu141=)
c.509A= (p.Glu170=)
4g.52028003C>ACA356875813SGCBc.718G>T (p.Glu240Ter)
c.421G>T (p.Glu141Ter)
c.508G>T (p.Glu170Ter)
4g.52028003C=CA1457429129SGCBc.718G= (p.Glu240=)
c.421G= (p.Glu141=)
c.508G= (p.Glu170=)
4g.52028003C>GCA356875814SGCBc.718G>C (p.Glu240Gln)
c.421G>C (p.Glu141Gln)
c.508G>C (p.Glu170Gln)
4g.52028003C>TCA356875815SGCBc.718G>A (p.Glu240Lys)
c.421G>A (p.Glu141Lys)
c.508G>A (p.Glu170Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.52028004A>CCA356875816SGCBc.717T>G (p.Ile239Met)
c.420T>G (p.Ile140Met)
c.507T>G (p.Ile169Met)
4g.52028004A>GCA439273644SGCBc.717T>C (p.Ile239=)
c.420T>C (p.Ile140=)
c.507T>C (p.Ile169=)
4g.52028004A>TCA439273645SGCBc.717T>A (p.Ile239=)
c.420T>A (p.Ile140=)
c.507T>A (p.Ile169=)
4g.52028005A=CA1457429130SGCBc.716T= (p.Ile239=)
c.419T= (p.Ile140=)
c.506T= (p.Ile169=)
4g.52028005A>CCA356875818SGCBc.716T>G (p.Ile239Ser)
c.419T>G (p.Ile140Ser)
c.506T>G (p.Ile169Ser)
4g.52028005A>GCA2918313SGCBc.716T>C (p.Ile239Thr)
c.419T>C (p.Ile140Thr)
c.506T>C (p.Ile169Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028005A>TCA356875817SGCBc.716T>A (p.Ile239Asn)
c.419T>A (p.Ile140Asn)
c.506T>A (p.Ile169Asn)
4g.52028006T>ACA356875819SGCBc.715A>T (p.Ile239Phe)
c.418A>T (p.Ile140Phe)
c.505A>T (p.Ile169Phe)
4g.52028006T>CCA96776361SGCBc.715A>G (p.Ile239Val)
c.418A>G (p.Ile140Val)
c.505A>G (p.Ile169Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028006T>GCA356875820SGCBc.715A>C (p.Ile239Leu)
c.418A>C (p.Ile140Leu)
c.505A>C (p.Ile169Leu)
4g.52028006T=CA1457429131SGCBc.715A= (p.Ile239=)
c.418A= (p.Ile140=)
c.505A= (p.Ile169=)
4g.52028007G>ACA439273651SGCBc.714C>T (p.Thr238=)
c.417C>T (p.Thr139=)
c.504C>T (p.Thr168=)
 COSMIC
4g.52028007G>CCA439273653SGCBc.714C>G (p.Thr238=)
c.417C>G (p.Thr139=)
c.504C>G (p.Thr168=)
4g.52028007G>TCA439273652SGCBc.714C>A (p.Thr238=)
c.417C>A (p.Thr139=)
c.504C>A (p.Thr168=)
4g.52028008G>ACA356875821SGCBc.713C>T (p.Thr238Ile)
c.416C>T (p.Thr139Ile)
c.503C>T (p.Thr168Ile)
4g.52028008G>CCA356875822SGCBc.713C>G (p.Thr238Ser)
c.416C>G (p.Thr139Ser)
c.503C>G (p.Thr168Ser)
4g.52028008G>TCA356875823SGCBc.713C>A (p.Thr238Asn)
c.416C>A (p.Thr139Asn)
c.503C>A (p.Thr168Asn)
4g.52028009T>ACA356875824SGCBc.712A>T (p.Thr238Ser)
c.415A>T (p.Thr139Ser)
c.502A>T (p.Thr168Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.52028009T>CCA356875826SGCBc.712A>G (p.Thr238Ala)
c.415A>G (p.Thr139Ala)
c.502A>G (p.Thr168Ala)
4g.52028009T>GCA356875825SGCBc.712A>C (p.Thr238Pro)
c.415A>C (p.Thr139Pro)
c.502A>C (p.Thr168Pro)
4g.52028009T=CA1457429132SGCBc.712A= (p.Thr238=)
c.415A= (p.Thr139=)
c.502A= (p.Thr168=)
4g.52028010T>ACA356875827SGCBc.711A>T (p.Lys237Asn)
c.414A>T (p.Lys138Asn)
c.501A>T (p.Lys167Asn)
4g.52028010T>CCA439273660SGCBc.711A>G (p.Lys237=)
c.414A>G (p.Lys138=)
c.501A>G (p.Lys167=)
4g.52028010T>GCA356875828SGCBc.711A>C (p.Lys237Asn)
c.414A>C (p.Lys138Asn)
c.501A>C (p.Lys167Asn)
4g.52028011T>ACA356875829SGCBc.710A>T (p.Lys237Ile)
c.413A>T (p.Lys138Ile)
c.500A>T (p.Lys167Ile)
4g.52028011T>CCA356875830SGCBc.710A>G (p.Lys237Arg)
c.413A>G (p.Lys138Arg)
c.500A>G (p.Lys167Arg)
4g.52028011T>GCA356875831SGCBc.710A>C (p.Lys237Thr)
c.413A>C (p.Lys138Thr)
c.500A>C (p.Lys167Thr)
4g.52028012T>ACA356875833SGCBc.709A>T (p.Lys237Ter)
c.412A>T (p.Lys138Ter)
c.499A>T (p.Lys167Ter)
4g.52028012T>CCA356875834SGCBc.709A>G (p.Lys237Glu)
c.412A>G (p.Lys138Glu)
c.499A>G (p.Lys167Glu)
4g.52028012T>GCA356875832SGCBc.709A>C (p.Lys237Gln)
c.412A>C (p.Lys138Gln)
c.499A>C (p.Lys167Gln)
4g.52028013G>ACA2918314SGCBc.708C>T (p.Gly236=)
c.411C>T (p.Gly137=)
c.498C>T (p.Gly166=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.52028013G>CCA439273663SGCBc.708C>G (p.Gly236=)
c.411C>G (p.Gly137=)
c.498C>G (p.Gly166=)
4g.52028013G=CA1457429133SGCBc.708C= (p.Gly236=)
c.411C= (p.Gly137=)
c.498C= (p.Gly166=)
4g.52028013G>TCA439273664SGCBc.708C>A (p.Gly236=)
c.411C>A (p.Gly137=)
c.498C>A (p.Gly166=)
4g.52028024_52028025insAAGCCCATAATGAACA2580071061SGCBc.708_709insTTTTCATTATGGGC (p.Lys237PhefsTer18)
c.411_412insTTTTCATTATGGGC (p.Lys138PhefsTer18)
c.498_499insTTTTCATTATGGGC (p.Lys167PhefsTer18)
 ClinVar
4g.52028014C>ACA356875835SGCBc.707G>T (p.Gly236Val)
c.410G>T (p.Gly137Val)
c.497G>T (p.Gly166Val)
4g.52028014C=CA1457429134SGCBc.707G= (p.Gly236=)
c.410G= (p.Gly137=)
c.497G= (p.Gly166=)
4g.52028014C>GCA356875837SGCBc.707G>C (p.Gly236Ala)
c.410G>C (p.Gly137Ala)
c.497G>C (p.Gly166Ala)
4g.52028014C>TCA356875836SGCBc.707G>A (p.Gly236Asp)
c.410G>A (p.Gly137Asp)
c.497G>A (p.Gly166Asp)
 ClinVar dbSNP gnomAD v4
4g.52028015C>ACA356875838SGCBc.706G>T (p.Gly236Cys)
c.409G>T (p.Gly137Cys)
c.496G>T (p.Gly166Cys)
4g.52028015C>GCA356875840SGCBc.706G>C (p.Gly236Arg)
c.409G>C (p.Gly137Arg)
c.496G>C (p.Gly166Arg)
4g.52028015C>TCA356875839SGCBc.706G>A (p.Gly236Ser)
c.409G>A (p.Gly137Ser)
c.496G>A (p.Gly166Ser)
4g.52028016C>ACA356875841SGCBc.705G>T (p.Met235Ile)
c.408G>T (p.Met136Ile)
c.495G>T (p.Met165Ile)
4g.52028016C=CA1457429135SGCBc.705G= (p.Met235=)
c.408G= (p.Met136=)
c.495G= (p.Met165=)
4g.52028016C>GCA356875843SGCBc.705G>C (p.Met235Ile)
c.408G>C (p.Met136Ile)
c.495G>C (p.Met165Ile)
 gnomAD v4
4g.52028016C>TCA356875842SGCBc.705G>A (p.Met235Ile)
c.408G>A (p.Met136Ile)
c.495G>A (p.Met165Ile)
 dbSNP
4g.52028017A>CCA356875844SGCBc.704T>G (p.Met235Arg)
c.407T>G (p.Met136Arg)
c.494T>G (p.Met165Arg)
4g.52028017A>GCA356875845SGCBc.704T>C (p.Met235Thr)
c.407T>C (p.Met136Thr)
c.494T>C (p.Met165Thr)
 gnomAD v3 gnomAD v4
4g.52028017A>TCA356875846SGCBc.704T>A (p.Met235Lys)
c.407T>A (p.Met136Lys)
c.494T>A (p.Met165Lys)
4g.52028018T>ACA356875847SGCBc.703A>T (p.Met235Leu)
c.406A>T (p.Met136Leu)
c.493A>T (p.Met165Leu)
4g.52028018T>CCA356875848SGCBc.703A>G (p.Met235Val)
c.406A>G (p.Met136Val)
c.493A>G (p.Met165Val)
 gnomAD v4
4g.52028018T>GCA356875849SGCBc.703A>C (p.Met235Leu)
c.406A>C (p.Met136Leu)
c.493A>C (p.Met165Leu)
4g.52028018dupCA2695199375SGCBc.703dup (p.Met235AsnfsTer6)
c.406dup (p.Met136AsnfsTer6)
c.493dup (p.Met165AsnfsTer6)
 ClinVar
4g.52028018_52028022delinsTAATGCA1457429136SGCBc.699_703delinsCATTA (p.Phe233=)
c.402_406delinsCATTA (p.Phe134=)
c.489_493delinsCATTA (p.Phe163=)
4g.52028019A>CCA356875850SGCBc.702T>G (p.Ile234Met)
c.405T>G (p.Ile135Met)
c.492T>G (p.Ile164Met)
4g.52028019A>GCA439273673SGCBc.702T>C (p.Ile234=)
c.405T>C (p.Ile135=)
c.492T>C (p.Ile164=)
 COSMIC
4g.52028019A>TCA439273674SGCBc.702T>A (p.Ile234=)
c.405T>A (p.Ile135=)
c.492T>A (p.Ile164=)
4g.52028019_52028020delCA2670598631SGCBc.701_702del (p.Ile234AsnfsTer6)
c.404_405del (p.Ile135AsnfsTer6)
c.491_492del (p.Ile164AsnfsTer6)
 gnomAD v4
4g.52028022_52028025delCA16040953SGCBc.699_702del (p.Phe233LeufsTer16)
c.402_405del (p.Phe134LeufsTer16)
c.489_492del (p.Phe163LeufsTer16)
 ClinVar dbSNP
4g.52028020A>CCA356875851SGCBc.701T>G (p.Ile234Ser)
c.404T>G (p.Ile135Ser)
c.491T>G (p.Ile164Ser)
4g.52028020A>GCA356875852SGCBc.701T>C (p.Ile234Thr)
c.404T>C (p.Ile135Thr)
c.491T>C (p.Ile164Thr)
4g.52028020A>TCA356875853SGCBc.701T>A (p.Ile234Asn)
c.404T>A (p.Ile135Asn)
c.491T>A (p.Ile164Asn)
4g.52028021T>ACA356875854SGCBc.700A>T (p.Ile234Phe)
c.403A>T (p.Ile135Phe)
c.490A>T (p.Ile164Phe)
4g.52028021T>CCA356875856SGCBc.700A>G (p.Ile234Val)
c.403A>G (p.Ile135Val)
c.490A>G (p.Ile164Val)
 dbSNP gnomAD v2 gnomAD v4
4g.52028021T>GCA356875855SGCBc.700A>C (p.Ile234Leu)
c.403A>C (p.Ile135Leu)
c.490A>C (p.Ile164Leu)
4g.52028021T=CA1457429137SGCBc.700A= (p.Ile234=)
c.403A= (p.Ile135=)
c.490A= (p.Ile164=)
4g.52028022G>ACA439273677SGCBc.699C>T (p.Phe233=)
c.402C>T (p.Phe134=)
c.489C>T (p.Phe163=)
 dbSNP
4g.52028022G>CCA356875857SGCBc.699C>G (p.Phe233Leu)
c.402C>G (p.Phe134Leu)
c.489C>G (p.Phe163Leu)
4g.52028022G=CA1457429138SGCBc.699C= (p.Phe233=)
c.402C= (p.Phe134=)
c.489C= (p.Phe163=)
4g.52028022G>TCA356875858SGCBc.699C>A (p.Phe233Leu)
c.402C>A (p.Phe134Leu)
c.489C>A (p.Phe163Leu)
4g.52028023A=CA1457429140SGCBc.698T= (p.Phe233=)
c.401T= (p.Phe134=)
c.488T= (p.Phe163=)
4g.52028023A>CCA356875859SGCBc.698T>G (p.Phe233Cys)
c.401T>G (p.Phe134Cys)
c.488T>G (p.Phe163Cys)
4g.52028023A>GCA356875860SGCBc.698T>C (p.Phe233Ser)
c.401T>C (p.Phe134Ser)
c.488T>C (p.Phe163Ser)
 ClinVar dbSNP gnomAD v4
4g.52028023A>TCA356875861SGCBc.698T>A (p.Phe233Tyr)
c.401T>A (p.Phe134Tyr)
c.488T>A (p.Phe163Tyr)
 gnomAD v4
4g.52028023_52028033delinsAATACACCTTCCA1457429139SGCBc.688_698delinsGAAGGTGTATT (p.Glu230=)
c.391_401delinsGAAGGTGTATT (p.Glu131=)
c.478_488delinsGAAGGTGTATT (p.Glu160=)
4g.52028024A>CCA356875973SGCBc.697T>G (p.Phe233Val)
c.400T>G (p.Phe134Val)
c.487T>G (p.Phe163Val)
4g.52028024A>GCA356875975SGCBc.697T>C (p.Phe233Leu)
c.400T>C (p.Phe134Leu)
c.487T>C (p.Phe163Leu)
4g.52028024A>TCA356875977SGCBc.697T>A (p.Phe233Ile)
c.400T>A (p.Phe134Ile)
c.487T>A (p.Phe163Ile)
4g.52028026_52028035delCA2918315SGCBc.688_697del (p.Glu230SerfsTer17)
c.391_400del (p.Glu131SerfsTer17)
c.478_487del (p.Glu160SerfsTer17)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028025T>ACA439273742SGCBc.696A>T (p.Val232=)
c.399A>T (p.Val133=)
c.486A>T (p.Val162=)
4g.52028025T>CCA439273743SGCBc.696A>G (p.Val232=)
c.399A>G (p.Val133=)
c.486A>G (p.Val162=)
4g.52028025T>GCA439273744SGCBc.696A>C (p.Val232=)
c.399A>C (p.Val133=)
c.486A>C (p.Val162=)
4g.52028025_52028026insTTCA2670598632SGCBc.696_697insAA (p.Phe233AsnfsTer18)
c.399_400insAA (p.Phe134AsnfsTer18)
c.486_487insAA (p.Phe163AsnfsTer18)
 gnomAD v4
4g.52028026A=CA1457429141SGCBc.695T= (p.Val232=)
c.398T= (p.Val133=)
c.485T= (p.Val162=)
4g.52028026A>CCA356875983SGCBc.695T>G (p.Val232Gly)
c.398T>G (p.Val133Gly)
c.485T>G (p.Val162Gly)
 gnomAD v4
4g.52028026A>GCA2918316SGCBc.695T>C (p.Val232Ala)
c.398T>C (p.Val133Ala)
c.485T>C (p.Val162Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.52028026A>TCA356875980SGCBc.695T>A (p.Val232Glu)
c.398T>A (p.Val133Glu)
c.485T>A (p.Val162Glu)

Number of alleles fetched