Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88643438C>ACA397056818CYBAc.419G>T (p.Ser140Ile)
c.*720G>T (n.*720G>T)
c.*757G>T (n.*757G>T)
c.*426G>T (n.*426G>T)
c.530G>T (p.Ser177Ile)
c.633G>T (p.Gln211His)
c.*1222G>T (n.*1222G>T)
c.452G>T (p.Ser151Ile)
c.503G>T (p.Ser168Ile)
 gnomAD v4
16g.88643438C>GCA397056814CYBAc.419G>C (p.Ser140Thr)
c.*720G>C (n.*720G>C)
c.*757G>C (n.*757G>C)
c.*426G>C (n.*426G>C)
c.530G>C (p.Ser177Thr)
c.633G>C (p.Gln211His)
c.*1222G>C (n.*1222G>C)
c.452G>C (p.Ser151Thr)
c.503G>C (p.Ser168Thr)
16g.88643438C>TCA397056811CYBAc.419G>A (p.Ser140Asn)
c.*720G>A (n.*720G>A)
c.*757G>A (n.*757G>A)
c.*426G>A (n.*426G>A)
c.530G>A (p.Ser177Asn)
c.633G>A (p.Gln211=)
c.*1222G>A (n.*1222G>A)
c.452G>A (p.Ser151Asn)
c.503G>A (p.Ser168Asn)
 gnomAD v4
16g.88643439T>ACA397056825CYBAc.418A>T (p.Ser140Cys)
c.*719A>T (n.*719A>T)
c.*756A>T (n.*756A>T)
c.*425A>T (n.*425A>T)
c.529A>T (p.Ser177Cys)
c.632A>T (p.Gln211Leu)
c.*1221A>T (n.*1221A>T)
c.451A>T (p.Ser151Cys)
c.502A>T (p.Ser168Cys)
16g.88643439T>CCA397056827CYBAc.418A>G (p.Ser140Gly)
c.*719A>G (n.*719A>G)
c.*756A>G (n.*756A>G)
c.*425A>G (n.*425A>G)
c.529A>G (p.Ser177Gly)
c.632A>G (p.Gln211Arg)
c.*1221A>G (n.*1221A>G)
c.451A>G (p.Ser151Gly)
c.502A>G (p.Ser168Gly)
 gnomAD v4
16g.88643439T>GCA397056831CYBAc.418A>C (p.Ser140Arg)
c.*719A>C (n.*719A>C)
c.*756A>C (n.*756A>C)
c.*425A>C (n.*425A>C)
c.529A>C (p.Ser177Arg)
c.632A>C (p.Gln211Pro)
c.*1221A>C (n.*1221A>C)
c.451A>C (p.Ser151Arg)
c.502A>C (p.Ser168Arg)
16g.88643440G>ACA286348232CYBAc.417C>T (p.Pro139=)
c.*718C>T (n.*718C>T)
c.*755C>T (n.*755C>T)
c.*424C>T (n.*424C>T)
c.528C>T (p.Pro176=)
c.631C>T (p.Gln211Ter)
c.*1220C>T (n.*1220C>T)
c.450C>T (p.Pro150=)
c.501C>T (p.Pro167=)
 dbSNP gnomAD v3 gnomAD v4
16g.88643440G>CCA497362119CYBAc.417C>G (p.Pro139=)
c.*718C>G (n.*718C>G)
c.*755C>G (n.*755C>G)
c.*424C>G (n.*424C>G)
c.528C>G (p.Pro176=)
c.631C>G (p.Gln211Glu)
c.*1220C>G (n.*1220C>G)
c.450C>G (p.Pro150=)
c.501C>G (p.Pro167=)
16g.88643440G=CA2241199649CYBAc.417C= (p.Pro139=)
c.*718C= (n.*718C=)
c.*755C= (n.*755C=)
c.*424C= (n.*424C=)
c.528C= (p.Pro176=)
c.631C= (p.Gln211=)
c.*1220C= (n.*1220C=)
c.450C= (p.Pro150=)
c.501C= (p.Pro167=)
16g.88643440G>TCA497362120CYBAc.417C>A (p.Pro139=)
c.*718C>A (n.*718C>A)
c.*755C>A (n.*755C>A)
c.*424C>A (n.*424C>A)
c.528C>A (p.Pro176=)
c.631C>A (p.Gln211Lys)
c.*1220C>A (n.*1220C>A)
c.450C>A (p.Pro150=)
c.501C>A (p.Pro167=)
 gnomAD v4
16g.88643442delCA2573152840CYBAc.417del (p.Ser140AlafsTer23)
c.*718del (n.*718del)
c.*755del (n.*755del)
c.*424del (n.*424del)
c.528del (p.Ser177AlafsTer23)
c.631del (p.Gln211SerfsTer29)
c.*1220del (n.*1220del)
c.450del (p.Ser151AlafsTer23)
c.501del (p.Ser168AlafsTer23)
 dbSNP
16g.88643441G>ACA397056833CYBAc.416C>T (p.Pro139Leu)
c.*717C>T (n.*717C>T)
c.*754C>T (n.*754C>T)
c.*423C>T (n.*423C>T)
c.527C>T (p.Pro176Leu)
c.630C>T (p.Ala210=)
c.*1219C>T (n.*1219C>T)
c.449C>T (p.Pro150Leu)
c.500C>T (p.Pro167Leu)
16g.88643441G>CCA397056837CYBAc.416C>G (p.Pro139Arg)
c.*717C>G (n.*717C>G)
c.*754C>G (n.*754C>G)
c.*423C>G (n.*423C>G)
c.527C>G (p.Pro176Arg)
c.630C>G (p.Ala210=)
c.*1219C>G (n.*1219C>G)
c.449C>G (p.Pro150Arg)
c.500C>G (p.Pro167Arg)
 dbSNP
16g.88643441G=CA2241199650CYBAc.416C= (p.Pro139=)
c.*717C= (n.*717C=)
c.*754C= (n.*754C=)
c.*423C= (n.*423C=)
c.527C= (p.Pro176=)
c.630C= (p.Ala210=)
c.*1219C= (n.*1219C=)
c.449C= (p.Pro150=)
c.500C= (p.Pro167=)
16g.88643441G>TCA397056839CYBAc.416C>A (p.Pro139His)
c.*717C>A (n.*717C>A)
c.*754C>A (n.*754C>A)
c.*423C>A (n.*423C>A)
c.527C>A (p.Pro176His)
c.630C>A (p.Ala210=)
c.*1219C>A (n.*1219C>A)
c.449C>A (p.Pro150His)
c.500C>A (p.Pro167His)
 gnomAD v4
16g.88643442G>ACA397056845CYBAc.415C>T (p.Pro139Ser)
c.*716C>T (n.*716C>T)
c.*753C>T (n.*753C>T)
c.*422C>T (n.*422C>T)
c.526C>T (p.Pro176Ser)
c.629C>T (p.Ala210Val)
c.*1218C>T (n.*1218C>T)
c.448C>T (p.Pro150Ser)
c.499C>T (p.Pro167Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.88643442G>CCA397056851CYBAc.415C>G (p.Pro139Ala)
c.*716C>G (n.*716C>G)
c.*753C>G (n.*753C>G)
c.*422C>G (n.*422C>G)
c.526C>G (p.Pro176Ala)
c.629C>G (p.Ala210Gly)
c.*1218C>G (n.*1218C>G)
c.448C>G (p.Pro150Ala)
c.499C>G (p.Pro167Ala)
16g.88643442G=CA2241199651CYBAc.415C= (p.Pro139=)
c.*716C= (n.*716C=)
c.*753C= (n.*753C=)
c.*422C= (n.*422C=)
c.526C= (p.Pro176=)
c.629C= (p.Ala210=)
c.*1218C= (n.*1218C=)
c.448C= (p.Pro150=)
c.499C= (p.Pro167=)
16g.88643442G>TCA397056863CYBAc.415C>A (p.Pro139Thr)
c.*716C>A (n.*716C>A)
c.*753C>A (n.*753C>A)
c.*422C>A (n.*422C>A)
c.526C>A (p.Pro176Thr)
c.629C>A (p.Ala210Asp)
c.*1218C>A (n.*1218C>A)
c.448C>A (p.Pro150Thr)
c.499C>A (p.Pro167Thr)
 gnomAD v4
16g.88643443C>ACA397056869CYBAc.414G>T (p.Lys138Asn)
c.*715G>T (n.*715G>T)
c.*752G>T (n.*752G>T)
c.*421G>T (n.*421G>T)
c.525G>T (p.Lys175Asn)
c.628G>T (p.Ala210Ser)
c.*1217G>T (n.*1217G>T)
c.447G>T (p.Lys149Asn)
c.498G>T (p.Lys166Asn)
 gnomAD v4
16g.88643443C=CA2241199652CYBAc.414G= (p.Lys138=)
c.*715G= (n.*715G=)
c.*752G= (n.*752G=)
c.*421G= (n.*421G=)
c.525G= (p.Lys175=)
c.628G= (p.Ala210=)
c.*1217G= (n.*1217G=)
c.447G= (p.Lys149=)
c.498G= (p.Lys166=)
16g.88643443C>GCA397056872CYBAc.414G>C (p.Lys138Asn)
c.*715G>C (n.*715G>C)
c.*752G>C (n.*752G>C)
c.*421G>C (n.*421G>C)
c.525G>C (p.Lys175Asn)
c.628G>C (p.Ala210Pro)
c.*1217G>C (n.*1217G>C)
c.447G>C (p.Lys149Asn)
c.498G>C (p.Lys166Asn)
16g.88643443C>TCA286348237CYBAc.414G>A (p.Lys138=)
c.*715G>A (n.*715G>A)
c.*752G>A (n.*752G>A)
c.*421G>A (n.*421G>A)
c.525G>A (p.Lys175=)
c.628G>A (p.Ala210Thr)
c.*1217G>A (n.*1217G>A)
c.447G>A (p.Lys149=)
c.498G>A (p.Lys166=)
 ClinVar dbSNP gnomAD v4
16g.88643443_88643450delCA1139532987CYBAc.407_414del (p.Arg136ProfsTer?)
c.*708_*715del (n.*708_*715del)
c.*745_*752del (n.*745_*752del)
c.*414_*421del (n.*414_*421del)
c.518_525del (p.Arg173ProfsTer?)
c.621_628del (p.Gln208ProfsTer24)
c.*1210_*1217del (n.*1210_*1217del)
c.440_447del (p.Arg147ProfsTer?)
c.491_498del (p.Arg164ProfsTer?)
16g.88643444T>ACA397056878CYBAc.413A>T (p.Lys138Met)
c.*714A>T (n.*714A>T)
c.*751A>T (n.*751A>T)
c.*420A>T (n.*420A>T)
c.524A>T (p.Lys175Met)
c.627A>T (p.Glu209Asp)
c.*1216A>T (n.*1216A>T)
c.446A>T (p.Lys149Met)
c.497A>T (p.Lys166Met)
 gnomAD v4
16g.88643444T>CCA397056879CYBAc.413A>G (p.Lys138Arg)
c.*714A>G (n.*714A>G)
c.*751A>G (n.*751A>G)
c.*420A>G (n.*420A>G)
c.524A>G (p.Lys175Arg)
c.627A>G (p.Glu209=)
c.*1216A>G (n.*1216A>G)
c.446A>G (p.Lys149Arg)
c.497A>G (p.Lys166Arg)
 gnomAD v4
16g.88643444T>GCA397056877CYBAc.413A>C (p.Lys138Thr)
c.*714A>C (n.*714A>C)
c.*751A>C (n.*751A>C)
c.*420A>C (n.*420A>C)
c.524A>C (p.Lys175Thr)
c.627A>C (p.Glu209Asp)
c.*1216A>C (n.*1216A>C)
c.446A>C (p.Lys149Thr)
c.497A>C (p.Lys166Thr)
16g.88643445T>ACA397056882CYBAc.412A>T (p.Lys138Ter)
c.*713A>T (n.*713A>T)
c.*750A>T (n.*750A>T)
c.*419A>T (n.*419A>T)
c.523A>T (p.Lys175Ter)
c.626A>T (p.Glu209Val)
c.*1215A>T (n.*1215A>T)
c.445A>T (p.Lys149Ter)
c.496A>T (p.Lys166Ter)
16g.88643445T>CCA397056883CYBAc.412A>G (p.Lys138Glu)
c.*713A>G (n.*713A>G)
c.*750A>G (n.*750A>G)
c.*419A>G (n.*419A>G)
c.523A>G (p.Lys175Glu)
c.626A>G (p.Glu209Gly)
c.*1215A>G (n.*1215A>G)
c.445A>G (p.Lys149Glu)
c.496A>G (p.Lys166Glu)
16g.88643445T>GCA397056884CYBAc.412A>C (p.Lys138Gln)
c.*713A>C (n.*713A>C)
c.*750A>C (n.*750A>C)
c.*419A>C (n.*419A>C)
c.523A>C (p.Lys175Gln)
c.626A>C (p.Glu209Ala)
c.*1215A>C (n.*1215A>C)
c.445A>C (p.Lys149Gln)
c.496A>C (p.Lys166Gln)
16g.88643446C>ACA397056885CYBAc.411G>T (p.Lys137Asn)
c.*712G>T (n.*712G>T)
c.*749G>T (n.*749G>T)
c.*418G>T (n.*418G>T)
c.522G>T (p.Lys174Asn)
c.625G>T (p.Glu209Ter)
c.*1214G>T (n.*1214G>T)
c.444G>T (p.Lys148Asn)
c.495G>T (p.Lys165Asn)
16g.88643446C=CA2241199653CYBAc.411G= (p.Lys137=)
c.*712G= (n.*712G=)
c.*749G= (n.*749G=)
c.*418G= (n.*418G=)
c.522G= (p.Lys174=)
c.625G= (p.Glu209=)
c.*1214G= (n.*1214G=)
c.444G= (p.Lys148=)
c.495G= (p.Lys165=)
16g.88643446C>GCA397056890CYBAc.411G>C (p.Lys137Asn)
c.*712G>C (n.*712G>C)
c.*749G>C (n.*749G>C)
c.*418G>C (n.*418G>C)
c.522G>C (p.Lys174Asn)
c.625G>C (p.Glu209Gln)
c.*1214G>C (n.*1214G>C)
c.444G>C (p.Lys148Asn)
c.495G>C (p.Lys165Asn)
 gnomAD v4
16g.88643446C>TCA286348240CYBAc.411G>A (p.Lys137=)
c.*712G>A (n.*712G>A)
c.*749G>A (n.*749G>A)
c.*418G>A (n.*418G>A)
c.522G>A (p.Lys174=)
c.625G>A (p.Glu209Lys)
c.*1214G>A (n.*1214G>A)
c.444G>A (p.Lys148=)
c.495G>A (p.Lys165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643447T>ACA397056896CYBAc.410A>T (p.Lys137Met)
c.*711A>T (n.*711A>T)
c.*748A>T (n.*748A>T)
c.*417A>T (n.*417A>T)
c.521A>T (p.Lys174Met)
c.624A>T (p.Gln208His)
c.*1213A>T (n.*1213A>T)
c.443A>T (p.Lys148Met)
c.494A>T (p.Lys165Met)
 gnomAD v4
16g.88643447T>CCA397056894CYBAc.410A>G (p.Lys137Arg)
c.*711A>G (n.*711A>G)
c.*748A>G (n.*748A>G)
c.*417A>G (n.*417A>G)
c.521A>G (p.Lys174Arg)
c.624A>G (p.Gln208=)
c.*1213A>G (n.*1213A>G)
c.443A>G (p.Lys148Arg)
c.494A>G (p.Lys165Arg)
 dbSNP gnomAD v2 gnomAD v4
16g.88643447T>GCA397056893CYBAc.410A>C (p.Lys137Thr)
c.*711A>C (n.*711A>C)
c.*748A>C (n.*748A>C)
c.*417A>C (n.*417A>C)
c.521A>C (p.Lys174Thr)
c.624A>C (p.Gln208His)
c.*1213A>C (n.*1213A>C)
c.443A>C (p.Lys148Thr)
c.494A>C (p.Lys165Thr)
 dbSNP
16g.88643447T=CA2241199654CYBAc.410A= (p.Lys137=)
c.*711A= (n.*711A=)
c.*748A= (n.*748A=)
c.*417A= (n.*417A=)
c.521A= (p.Lys174=)
c.624A= (p.Gln208=)
c.*1213A= (n.*1213A=)
c.443A= (p.Lys148=)
c.494A= (p.Lys165=)
16g.88643448T>ACA397056900CYBAc.409A>T (p.Lys137Ter)
c.*710A>T (n.*710A>T)
c.*747A>T (n.*747A>T)
c.*416A>T (n.*416A>T)
c.520A>T (p.Lys174Ter)
c.623A>T (p.Gln208Leu)
c.*1212A>T (n.*1212A>T)
c.442A>T (p.Lys148Ter)
c.493A>T (p.Lys165Ter)
16g.88643448T>CCA397056902CYBAc.409A>G (p.Lys137Glu)
c.*710A>G (n.*710A>G)
c.*747A>G (n.*747A>G)
c.*416A>G (n.*416A>G)
c.520A>G (p.Lys174Glu)
c.623A>G (p.Gln208Arg)
c.*1212A>G (n.*1212A>G)
c.442A>G (p.Lys148Glu)
c.493A>G (p.Lys165Glu)
 gnomAD v4
16g.88643448T>GCA397056904CYBAc.409A>C (p.Lys137Gln)
c.*710A>C (n.*710A>C)
c.*747A>C (n.*747A>C)
c.*416A>C (n.*416A>C)
c.520A>C (p.Lys174Gln)
c.623A>C (p.Gln208Pro)
c.*1212A>C (n.*1212A>C)
c.442A>C (p.Lys148Gln)
c.493A>C (p.Lys165Gln)
16g.88643449G>ACA497362123CYBAc.408C>T (p.Arg136=)
c.*709C>T (n.*709C>T)
c.*746C>T (n.*746C>T)
c.*415C>T (n.*415C>T)
c.519C>T (p.Arg173=)
c.622C>T (p.Gln208Ter)
c.*1211C>T (n.*1211C>T)
c.441C>T (p.Arg147=)
c.492C>T (p.Arg164=)
 ClinVar
16g.88643449G>CCA497362124CYBAc.408C>G (p.Arg136=)
c.*709C>G (n.*709C>G)
c.*746C>G (n.*746C>G)
c.*415C>G (n.*415C>G)
c.519C>G (p.Arg173=)
c.622C>G (p.Gln208Glu)
c.*1211C>G (n.*1211C>G)
c.441C>G (p.Arg147=)
c.492C>G (p.Arg164=)
 gnomAD v4
16g.88643449G=CA2241199655CYBAc.408C= (p.Arg136=)
c.*709C= (n.*709C=)
c.*746C= (n.*746C=)
c.*415C= (n.*415C=)
c.519C= (p.Arg173=)
c.622C= (p.Gln208=)
c.*1211C= (n.*1211C=)
c.441C= (p.Arg147=)
c.492C= (p.Arg164=)
16g.88643449G>TCA497362125CYBAc.408C>A (p.Arg136=)
c.*709C>A (n.*709C>A)
c.*746C>A (n.*746C>A)
c.*415C>A (n.*415C>A)
c.519C>A (p.Arg173=)
c.622C>A (p.Gln208Lys)
c.*1211C>A (n.*1211C>A)
c.441C>A (p.Arg147=)
c.492C>A (p.Arg164=)
 dbSNP gnomAD v2 gnomAD v4
16g.88643450C>ACA397056906CYBAc.407G>T (p.Arg136Leu)
c.*708G>T (n.*708G>T)
c.*745G>T (n.*745G>T)
c.*414G>T (n.*414G>T)
c.518G>T (p.Arg173Leu)
c.621G>T (p.Pro207=)
c.*1210G>T (n.*1210G>T)
c.440G>T (p.Arg147Leu)
c.491G>T (p.Arg164Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643450C=CA2241199656CYBAc.407G= (p.Arg136=)
c.*708G= (n.*708G=)
c.*745G= (n.*745G=)
c.*414G= (n.*414G=)
c.518G= (p.Arg173=)
c.621G= (p.Pro207=)
c.*1210G= (n.*1210G=)
c.440G= (p.Arg147=)
c.491G= (p.Arg164=)
16g.88643450C>GCA397056908CYBAc.407G>C (p.Arg136Pro)
c.*708G>C (n.*708G>C)
c.*745G>C (n.*745G>C)
c.*414G>C (n.*414G>C)
c.518G>C (p.Arg173Pro)
c.621G>C (p.Pro207=)
c.*1210G>C (n.*1210G>C)
c.440G>C (p.Arg147Pro)
c.491G>C (p.Arg164Pro)
16g.88643450C>TCA286348260CYBAc.407G>A (p.Arg136His)
c.*708G>A (n.*708G>A)
c.*745G>A (n.*745G>A)
c.*414G>A (n.*414G>A)
c.518G>A (p.Arg173His)
c.621G>A (p.Pro207=)
c.*1210G>A (n.*1210G>A)
c.440G>A (p.Arg147His)
c.491G>A (p.Arg164His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643450_88643462delinsCGGGCCTCGGCCGCA2241199657CYBAc.395_407delinsCGGCCGAGGCCCG (p.Pro132=)
c.*696_*708delinsCGGCCGAGGCCCG (n.*696_*708delinsCGGCCGAGGCCCG)
c.*733_*745delinsCGGCCGAGGCCCG (n.*733_*745delinsCGGCCGAGGCCCG)
c.*402_*414delinsCGGCCGAGGCCCG (n.*402_*414delinsCGGCCGAGGCCCG)
c.506_518delinsCGGCCGAGGCCCG (p.Pro169=)
c.609_621delinsCGGCCGAGGCCCG (p.Pro203=)
c.*1198_*1210delinsCGGCCGAGGCCCG (n.*1198_*1210delinsCGGCCGAGGCCCG)
c.428_440delinsCGGCCGAGGCCCG (p.Pro143=)
c.479_491delinsCGGCCGAGGCCCG (p.Pro160=)
16g.88643451G>ACA8228188CYBAc.406C>T (p.Arg136Cys)
c.*707C>T (n.*707C>T)
c.*744C>T (n.*744C>T)
c.*413C>T (n.*413C>T)
c.517C>T (p.Arg173Cys)
c.620C>T (p.Pro207Leu)
c.*1209C>T (n.*1209C>T)
c.439C>T (p.Arg147Cys)
c.490C>T (p.Arg164Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643451G>CCA397056917CYBAc.406C>G (p.Arg136Gly)
c.*707C>G (n.*707C>G)
c.*744C>G (n.*744C>G)
c.*413C>G (n.*413C>G)
c.517C>G (p.Arg173Gly)
c.620C>G (p.Pro207Arg)
c.*1209C>G (n.*1209C>G)
c.439C>G (p.Arg147Gly)
c.490C>G (p.Arg164Gly)
 gnomAD v4
16g.88643451G=CA2241199659CYBAc.406C= (p.Arg136=)
c.*707C= (n.*707C=)
c.*744C= (n.*744C=)
c.*413C= (n.*413C=)
c.517C= (p.Arg173=)
c.620C= (p.Pro207=)
c.*1209C= (n.*1209C=)
c.439C= (p.Arg147=)
c.490C= (p.Arg164=)
16g.88643451G>TCA397056915CYBAc.406C>A (p.Arg136Ser)
c.*707C>A (n.*707C>A)
c.*744C>A (n.*744C>A)
c.*413C>A (n.*413C>A)
c.517C>A (p.Arg173Ser)
c.620C>A (p.Pro207Gln)
c.*1209C>A (n.*1209C>A)
c.439C>A (p.Arg147Ser)
c.490C>A (p.Arg164Ser)
 gnomAD v4
16g.88643454_88643465delCA2241199658CYBAc.395_406del (p.Pro132_Ala135del)
c.*696_*707del (n.*696_*707del)
c.*733_*744del (n.*733_*744del)
c.*402_*413del (n.*402_*413del)
c.506_517del (p.Pro169_Ala172del)
c.609_620del (p.Gly204_Pro207del)
c.*1198_*1209del (n.*1198_*1209del)
c.428_439del (p.Pro143_Ala146del)
c.479_490del (p.Pro160_Ala163del)
 dbSNP gnomAD v4
16g.88643456_88643468delCA2573152841CYBAc.394_406del (p.Pro132AlafsTer27)
c.*695_*707del (n.*695_*707del)
c.*732_*744del (n.*732_*744del)
c.*401_*413del (n.*401_*413del)
c.505_517del (p.Pro169AlafsTer27)
c.608_620del (p.Pro203ArgfsTer?)
c.*1197_*1209del (n.*1197_*1209del)
c.427_439del (p.Pro143AlafsTer27)
c.478_490del (p.Pro160AlafsTer27)
 ClinVar dbSNP gnomAD v4
16g.88643452G>ACA497362129CYBAc.405C>T (p.Ala135=)
c.*706C>T (n.*706C>T)
c.*743C>T (n.*743C>T)
c.*412C>T (n.*412C>T)
c.516C>T (p.Ala172=)
c.619C>T (p.Pro207Ser)
c.*1208C>T (n.*1208C>T)
c.438C>T (p.Ala146=)
c.489C>T (p.Ala163=)
 gnomAD v4
16g.88643452G>CCA497362130CYBAc.405C>G (p.Ala135=)
c.*706C>G (n.*706C>G)
c.*743C>G (n.*743C>G)
c.*412C>G (n.*412C>G)
c.516C>G (p.Ala172=)
c.619C>G (p.Pro207Ala)
c.*1208C>G (n.*1208C>G)
c.438C>G (p.Ala146=)
c.489C>G (p.Ala163=)
16g.88643452G>TCA497362132CYBAc.405C>A (p.Ala135=)
c.*706C>A (n.*706C>A)
c.*743C>A (n.*743C>A)
c.*412C>A (n.*412C>A)
c.516C>A (p.Ala172=)
c.619C>A (p.Pro207Thr)
c.*1208C>A (n.*1208C>A)
c.438C>A (p.Ala146=)
c.489C>A (p.Ala163=)
 gnomAD v4
16g.88643453G>ACA397056922CYBAc.404C>T (p.Ala135Val)
c.*705C>T (n.*705C>T)
c.*742C>T (n.*742C>T)
c.*411C>T (n.*411C>T)
c.515C>T (p.Ala172Val)
c.618C>T (p.Gly206=)
c.*1207C>T (n.*1207C>T)
c.437C>T (p.Ala146Val)
c.488C>T (p.Ala163Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643453G>CCA397056925CYBAc.404C>G (p.Ala135Gly)
c.*705C>G (n.*705C>G)
c.*742C>G (n.*742C>G)
c.*411C>G (n.*411C>G)
c.515C>G (p.Ala172Gly)
c.618C>G (p.Gly206=)
c.*1207C>G (n.*1207C>G)
c.437C>G (p.Ala146Gly)
c.488C>G (p.Ala163Gly)
 dbSNP
16g.88643453G=CA2241199660CYBAc.404C= (p.Ala135=)
c.*705C= (n.*705C=)
c.*742C= (n.*742C=)
c.*411C= (n.*411C=)
c.515C= (p.Ala172=)
c.618C= (p.Gly206=)
c.*1207C= (n.*1207C=)
c.437C= (p.Ala146=)
c.488C= (p.Ala163=)
16g.88643453G>TCA8228189CYBAc.404C>A (p.Ala135Asp)
c.*705C>A (n.*705C>A)
c.*742C>A (n.*742C>A)
c.*411C>A (n.*411C>A)
c.515C>A (p.Ala172Asp)
c.618C>A (p.Gly206=)
c.*1207C>A (n.*1207C>A)
c.437C>A (p.Ala146Asp)
c.488C>A (p.Ala163Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.88643454C>ACA397056940CYBAc.403G>T (p.Ala135Ser)
c.*704G>T (n.*704G>T)
c.*741G>T (n.*741G>T)
c.*410G>T (n.*410G>T)
c.514G>T (p.Ala172Ser)
c.617G>T (p.Gly206Val)
c.*1206G>T (n.*1206G>T)
c.436G>T (p.Ala146Ser)
c.487G>T (p.Ala163Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.88643454C=CA2241199661CYBAc.403G= (p.Ala135=)
c.*704G= (n.*704G=)
c.*741G= (n.*741G=)
c.*410G= (n.*410G=)
c.514G= (p.Ala172=)
c.617G= (p.Gly206=)
c.*1206G= (n.*1206G=)
c.436G= (p.Ala146=)
c.487G= (p.Ala163=)
16g.88643454C>GCA397056952CYBAc.403G>C (p.Ala135Pro)
c.*704G>C (n.*704G>C)
c.*741G>C (n.*741G>C)
c.*410G>C (n.*410G>C)
c.514G>C (p.Ala172Pro)
c.617G>C (p.Gly206Ala)
c.*1206G>C (n.*1206G>C)
c.436G>C (p.Ala146Pro)
c.487G>C (p.Ala163Pro)
16g.88643454C>TCA397056953CYBAc.403G>A (p.Ala135Thr)
c.*704G>A (n.*704G>A)
c.*741G>A (n.*741G>A)
c.*410G>A (n.*410G>A)
c.514G>A (p.Ala172Thr)
c.617G>A (p.Gly206Asp)
c.*1206G>A (n.*1206G>A)
c.436G>A (p.Ala146Thr)
c.487G>A (p.Ala163Thr)
 gnomAD v4
16g.88643454_88643457delCA2573051220CYBAc.400_403del (p.Glu134ProfsTer28)
c.*701_*704del (n.*701_*704del)
c.*738_*741del (n.*738_*741del)
c.*407_*410del (n.*407_*410del)
c.511_514del (p.Glu171ProfsTer28)
c.614_617del (p.Arg205ProfsTer?)
c.*1203_*1206del (n.*1203_*1206del)
c.433_436del (p.Glu145ProfsTer28)
c.484_487del (p.Glu162ProfsTer28)
16g.88643455C>ACA397056955CYBAc.402G>T (p.Glu134Asp)
c.*703G>T (n.*703G>T)
c.*740G>T (n.*740G>T)
c.*409G>T (n.*409G>T)
c.513G>T (p.Glu171Asp)
c.616G>T (p.Gly206Cys)
c.*1205G>T (n.*1205G>T)
c.435G>T (p.Glu145Asp)
c.486G>T (p.Glu162Asp)
 gnomAD v4
16g.88643455C=CA2241199662CYBAc.402G= (p.Glu134=)
c.*703G= (n.*703G=)
c.*740G= (n.*740G=)
c.*409G= (n.*409G=)
c.513G= (p.Glu171=)
c.616G= (p.Gly206=)
c.*1205G= (n.*1205G=)
c.435G= (p.Glu145=)
c.486G= (p.Glu162=)
16g.88643455C>GCA397056959CYBAc.402G>C (p.Glu134Asp)
c.*703G>C (n.*703G>C)
c.*740G>C (n.*740G>C)
c.*409G>C (n.*409G>C)
c.513G>C (p.Glu171Asp)
c.616G>C (p.Gly206Arg)
c.*1205G>C (n.*1205G>C)
c.435G>C (p.Glu145Asp)
c.486G>C (p.Glu162Asp)
 ClinVar dbSNP gnomAD v4
16g.88643455C>TCA497362134CYBAc.402G>A (p.Glu134=)
c.*703G>A (n.*703G>A)
c.*740G>A (n.*740G>A)
c.*409G>A (n.*409G>A)
c.513G>A (p.Glu171=)
c.616G>A (p.Gly206Ser)
c.*1205G>A (n.*1205G>A)
c.435G>A (p.Glu145=)
c.486G>A (p.Glu162=)
 gnomAD v4
16g.88643456T>ACA397056960CYBAc.401A>T (p.Glu134Val)
c.*702A>T (n.*702A>T)
c.*739A>T (n.*739A>T)
c.*408A>T (n.*408A>T)
c.512A>T (p.Glu171Val)
c.615A>T (p.Arg205=)
c.*1204A>T (n.*1204A>T)
c.434A>T (p.Glu145Val)
c.485A>T (p.Glu162Val)
16g.88643456T>CCA397056961CYBAc.401A>G (p.Glu134Gly)
c.*702A>G (n.*702A>G)
c.*739A>G (n.*739A>G)
c.*408A>G (n.*408A>G)
c.512A>G (p.Glu171Gly)
c.615A>G (p.Arg205=)
c.*1204A>G (n.*1204A>G)
c.434A>G (p.Glu145Gly)
c.485A>G (p.Glu162Gly)
 gnomAD v4
16g.88643456T>GCA397056962CYBAc.401A>C (p.Glu134Ala)
c.*702A>C (n.*702A>C)
c.*739A>C (n.*739A>C)
c.*408A>C (n.*408A>C)
c.512A>C (p.Glu171Ala)
c.615A>C (p.Arg205=)
c.*1204A>C (n.*1204A>C)
c.434A>C (p.Glu145Ala)
c.485A>C (p.Glu162Ala)
16g.88643456_88643469delinsTCGGCCGGGGGCCGCA2241199663CYBAc.388_401delinsCGGCCCCCGGCCGA (p.Arg130=)
c.*689_*702delinsCGGCCCCCGGCCGA (n.*689_*702delinsCGGCCCCCGGCCGA)
c.*726_*739delinsCGGCCCCCGGCCGA (n.*726_*739delinsCGGCCCCCGGCCGA)
c.*395_*408delinsCGGCCCCCGGCCGA (n.*395_*408delinsCGGCCCCCGGCCGA)
c.499_512delinsCGGCCCCCGGCCGA (p.Arg167=)
c.602_615delinsCGGCCCCCGGCCGA (p.Ala201=)
c.*1191_*1204delinsCGGCCCCCGGCCGA (n.*1191_*1204delinsCGGCCCCCGGCCGA)
c.421_434delinsCGGCCCCCGGCCGA (p.Arg141=)
c.472_485delinsCGGCCCCCGGCCGA (p.Arg158=)
16g.88643457C>ACA397056967CYBAc.400G>T (p.Glu134Ter)
c.*701G>T (n.*701G>T)
c.*738G>T (n.*738G>T)
c.*407G>T (n.*407G>T)
c.511G>T (p.Glu171Ter)
c.614G>T (p.Arg205Leu)
c.*1203G>T (n.*1203G>T)
c.433G>T (p.Glu145Ter)
c.484G>T (p.Glu162Ter)
16g.88643457C=CA2241199664CYBAc.400G= (p.Glu134=)
c.*701G= (n.*701G=)
c.*738G= (n.*738G=)
c.*407G= (n.*407G=)
c.511G= (p.Glu171=)
c.614G= (p.Arg205=)
c.*1203G= (n.*1203G=)
c.433G= (p.Glu145=)
c.484G= (p.Glu162=)
16g.88643457C>GCA397056965CYBAc.400G>C (p.Glu134Gln)
c.*701G>C (n.*701G>C)
c.*738G>C (n.*738G>C)
c.*407G>C (n.*407G>C)
c.511G>C (p.Glu171Gln)
c.614G>C (p.Arg205Pro)
c.*1203G>C (n.*1203G>C)
c.433G>C (p.Glu145Gln)
c.484G>C (p.Glu162Gln)
16g.88643457C>TCA8228190CYBAc.400G>A (p.Glu134Lys)
c.*701G>A (n.*701G>A)
c.*738G>A (n.*738G>A)
c.*407G>A (n.*407G>A)
c.511G>A (p.Glu171Lys)
c.614G>A (p.Arg205Gln)
c.*1203G>A (n.*1203G>A)
c.433G>A (p.Glu145Lys)
c.484G>A (p.Glu162Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643461_88643473delCA624448080CYBAc.388_400del (p.Pro132AlafsTer27)
c.*689_*701del (n.*689_*701del)
c.*726_*738del (n.*726_*738del)
c.*395_*407del (n.*395_*407del)
c.499_511del (p.Pro169AlafsTer27)
c.602_614del (p.Ala201GlufsTer?)
c.*1191_*1203del (n.*1191_*1203del)
c.421_433del (p.Pro143AlafsTer27)
c.472_484del (p.Pro160AlafsTer27)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643458G>ACA286348274CYBAc.399C>T (p.Ala133=)
c.*700C>T (n.*700C>T)
c.*737C>T (n.*737C>T)
c.*406C>T (n.*406C>T)
c.510C>T (p.Ala170=)
c.613C>T (p.Arg205Ter)
c.*1202C>T (n.*1202C>T)
c.432C>T (p.Ala144=)
c.483C>T (p.Ala161=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643458G>CCA497362137CYBAc.399C>G (p.Ala133=)
c.*700C>G (n.*700C>G)
c.*737C>G (n.*737C>G)
c.*406C>G (n.*406C>G)
c.510C>G (p.Ala170=)
c.613C>G (p.Arg205Gly)
c.*1202C>G (n.*1202C>G)
c.432C>G (p.Ala144=)
c.483C>G (p.Ala161=)
16g.88643458G=CA2241199665CYBAc.399C= (p.Ala133=)
c.*700C= (n.*700C=)
c.*737C= (n.*737C=)
c.*406C= (n.*406C=)
c.510C= (p.Ala170=)
c.613C= (p.Arg205=)
c.*1202C= (n.*1202C=)
c.432C= (p.Ala144=)
c.483C= (p.Ala161=)
16g.88643458G>TCA497362138CYBAc.399C>A (p.Ala133=)
c.*700C>A (n.*700C>A)
c.*737C>A (n.*737C>A)
c.*406C>A (n.*406C>A)
c.510C>A (p.Ala170=)
c.613C>A (p.Arg205=)
c.*1202C>A (n.*1202C>A)
c.432C>A (p.Ala144=)
c.483C>A (p.Ala161=)
 dbSNP gnomAD v2 gnomAD v4
16g.88643458_88643459insCCGGGGGCCCCCTCGCCGGGGGCCCCCTCCA2580092206CYBAc.398_399insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu134ArgfsTer39)
c.*699_*700insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (n.*699_*700insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG)
c.*736_*737insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (n.*736_*737insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG)
c.*405_*406insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (n.*405_*406insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG)
c.509_510insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu171ArgfsTer39)
c.612_613insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Arg205GlufsTer?)
c.*1201_*1202insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (n.*1201_*1202insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG)
c.431_432insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu145ArgfsTer39)
c.482_483insGAGGGGGCCCCCGGCGAGGGGGCCCCCGG (p.Glu162ArgfsTer39)
 ClinVar
16g.88643459G>ACA397056970CYBAc.398C>T (p.Ala133Val)
c.*699C>T (n.*699C>T)
c.*736C>T (n.*736C>T)
c.*405C>T (n.*405C>T)
c.509C>T (p.Ala170Val)
c.612C>T (p.Gly204=)
c.*1201C>T (n.*1201C>T)
c.431C>T (p.Ala144Val)
c.482C>T (p.Ala161Val)
 gnomAD v4
16g.88643459G>CCA397056972CYBAc.398C>G (p.Ala133Gly)
c.*699C>G (n.*699C>G)
c.*736C>G (n.*736C>G)
c.*405C>G (n.*405C>G)
c.509C>G (p.Ala170Gly)
c.612C>G (p.Gly204=)
c.*1201C>G (n.*1201C>G)
c.431C>G (p.Ala144Gly)
c.482C>G (p.Ala161Gly)
16g.88643459G>TCA397056973CYBAc.398C>A (p.Ala133Asp)
c.*699C>A (n.*699C>A)
c.*736C>A (n.*736C>A)
c.*405C>A (n.*405C>A)
c.509C>A (p.Ala170Asp)
c.612C>A (p.Gly204=)
c.*1201C>A (n.*1201C>A)
c.431C>A (p.Ala144Asp)
c.482C>A (p.Ala161Asp)
 gnomAD v4
16g.88643459_88643460delCA2634848218CYBAc.397_398del (p.Ala133ArgfsTer?)
c.*698_*699del (n.*698_*699del)
c.*735_*736del (n.*735_*736del)
c.*404_*405del (n.*404_*405del)
c.508_509del (p.Ala170ArgfsTer?)
c.611_612del (p.Gly204AlafsTer30)
c.*1200_*1201del (n.*1200_*1201del)
c.430_431del (p.Ala144ArgfsTer?)
c.481_482del (p.Ala161ArgfsTer?)
 gnomAD v4
16g.88643460C>ACA397056977CYBAc.397G>T (p.Ala133Ser)
c.*698G>T (n.*698G>T)
c.*735G>T (n.*735G>T)
c.*404G>T (n.*404G>T)
c.508G>T (p.Ala170Ser)
c.611G>T (p.Gly204Val)
c.*1200G>T (n.*1200G>T)
c.430G>T (p.Ala144Ser)
c.481G>T (p.Ala161Ser)
 gnomAD v4
16g.88643460C>GCA397056982CYBAc.397G>C (p.Ala133Pro)
c.*698G>C (n.*698G>C)
c.*735G>C (n.*735G>C)
c.*404G>C (n.*404G>C)
c.508G>C (p.Ala170Pro)
c.611G>C (p.Gly204Ala)
c.*1200G>C (n.*1200G>C)
c.430G>C (p.Ala144Pro)
c.481G>C (p.Ala161Pro)
 gnomAD v4
16g.88643460C>TCA397056986CYBAc.397G>A (p.Ala133Thr)
c.*698G>A (n.*698G>A)
c.*735G>A (n.*735G>A)
c.*404G>A (n.*404G>A)
c.508G>A (p.Ala170Thr)
c.611G>A (p.Gly204Asp)
c.*1200G>A (n.*1200G>A)
c.430G>A (p.Ala144Thr)
c.481G>A (p.Ala161Thr)
 gnomAD v4 COSMIC
16g.88643461delCA2634848222CYBAc.397del (p.Ala133ProfsTer30)
c.*698del (n.*698del)
c.*735del (n.*735del)
c.*404del (n.*404del)
c.508del (p.Ala170ProfsTer30)
c.611del (p.Gly204AlafsTer?)
c.*1200del (n.*1200del)
c.430del (p.Ala144ProfsTer30)
c.481del (p.Ala161ProfsTer30)
 gnomAD v4
16g.88643461C>ACA497362143CYBAc.396G>T (p.Pro132=)
c.*697G>T (n.*697G>T)
c.*734G>T (n.*734G>T)
c.*403G>T (n.*403G>T)
c.507G>T (p.Pro169=)
c.610G>T (p.Gly204Cys)
c.*1199G>T (n.*1199G>T)
c.429G>T (p.Pro143=)
c.480G>T (p.Pro160=)
 gnomAD v4
16g.88643461C=CA2241199666CYBAc.396G= (p.Pro132=)
c.*697G= (n.*697G=)
c.*734G= (n.*734G=)
c.*403G= (n.*403G=)
c.507G= (p.Pro169=)
c.610G= (p.Gly204=)
c.*1199G= (n.*1199G=)
c.429G= (p.Pro143=)
c.480G= (p.Pro160=)
16g.88643461C>GCA286348278CYBAc.396G>C (p.Pro132=)
c.*697G>C (n.*697G>C)
c.*734G>C (n.*734G>C)
c.*403G>C (n.*403G>C)
c.507G>C (p.Pro169=)
c.610G>C (p.Gly204Arg)
c.*1199G>C (n.*1199G>C)
c.429G>C (p.Pro143=)
c.480G>C (p.Pro160=)
 dbSNP gnomAD v4
16g.88643461C>TCA8228191CYBAc.396G>A (p.Pro132=)
c.*697G>A (n.*697G>A)
c.*734G>A (n.*734G>A)
c.*403G>A (n.*403G>A)
c.507G>A (p.Pro169=)
c.610G>A (p.Gly204Ser)
c.*1199G>A (n.*1199G>A)
c.429G>A (p.Pro143=)
c.480G>A (p.Pro160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643461_88643462delinsCGCA2241199667CYBAc.395_396delinsCG (p.Pro132=)
c.*696_*697delinsCG (n.*696_*697delinsCG)
c.*733_*734delinsCG (n.*733_*734delinsCG)
c.*402_*403delinsCG (n.*402_*403delinsCG)
c.506_507delinsCG (p.Pro169=)
c.609_610delinsCG (p.Pro203=)
c.*1198_*1199delinsCG (n.*1198_*1199delinsCG)
c.428_429delinsCG (p.Pro143=)
c.479_480delinsCG (p.Pro160=)
16g.88643462G>ACA397057004CYBAc.395C>T (p.Pro132Leu)
c.*696C>T (n.*696C>T)
c.*733C>T (n.*733C>T)
c.*402C>T (n.*402C>T)
c.506C>T (p.Pro169Leu)
c.609C>T (p.Pro203=)
c.*1198C>T (n.*1198C>T)
c.428C>T (p.Pro143Leu)
c.479C>T (p.Pro160Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643462G>CCA397057011CYBAc.395C>G (p.Pro132Arg)
c.*696C>G (n.*696C>G)
c.*733C>G (n.*733C>G)
c.*402C>G (n.*402C>G)
c.506C>G (p.Pro169Arg)
c.609C>G (p.Pro203=)
c.*1198C>G (n.*1198C>G)
c.428C>G (p.Pro143Arg)
c.479C>G (p.Pro160Arg)
 ClinVar dbSNP gnomAD v4
16g.88643462G=CA2241199668CYBAc.395C= (p.Pro132=)
c.*696C= (n.*696C=)
c.*733C= (n.*733C=)
c.*402C= (n.*402C=)
c.506C= (p.Pro169=)
c.609C= (p.Pro203=)
c.*1198C= (n.*1198C=)
c.428C= (p.Pro143=)
c.479C= (p.Pro160=)
16g.88643462G>TCA397056993CYBAc.395C>A (p.Pro132Gln)
c.*696C>A (n.*696C>A)
c.*733C>A (n.*733C>A)
c.*402C>A (n.*402C>A)
c.506C>A (p.Pro169Gln)
c.609C>A (p.Pro203=)
c.*1198C>A (n.*1198C>A)
c.428C>A (p.Pro143Gln)
c.479C>A (p.Pro160Gln)
 gnomAD v4
16g.88643466dupCA2634848232CYBAc.395dup (p.Ala133GlyfsTer?)
c.*696dup (n.*696dup)
c.*733dup (n.*733dup)
c.*402dup (n.*402dup)
c.506dup (p.Ala170GlyfsTer?)
c.609dup (p.Gly204ArgfsTer?)
c.*1198dup (n.*1198dup)
c.428dup (p.Ala144GlyfsTer?)
c.479dup (p.Ala161GlyfsTer?)
 gnomAD v4
16g.88643466delCA397056990CYBAc.395del (p.Pro132ArgfsTer?)
c.*696del (n.*696del)
c.*733del (n.*733del)
c.*402del (n.*402del)
c.506del (p.Pro169ArgfsTer?)
c.609del (p.Gly204AlafsTer?)
c.*1198del (n.*1198del)
c.428del (p.Pro143ArgfsTer?)
c.479del (p.Pro160ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
16g.88643467_88643479delCA2573152842CYBAc.383_395del (p.Pro128ArgfsTer?)
c.*684_*696del (n.*684_*696del)
c.*721_*733del (n.*721_*733del)
c.*390_*402del (n.*390_*402del)
c.494_506del (p.Pro165ArgfsTer?)
c.597_609del (p.Ala201GlufsTer?)
c.*1186_*1198del (n.*1186_*1198del)
c.416_428del (p.Pro139ArgfsTer?)
c.467_479del (p.Pro156ArgfsTer?)
 ClinVar dbSNP
16g.88643463G>ACA397057014CYBAc.394C>T (p.Pro132Ser)
c.*695C>T (n.*695C>T)
c.*732C>T (n.*732C>T)
c.*401C>T (n.*401C>T)
c.505C>T (p.Pro169Ser)
c.608C>T (p.Pro203Leu)
c.*1197C>T (n.*1197C>T)
c.427C>T (p.Pro143Ser)
c.478C>T (p.Pro160Ser)
 gnomAD v4
16g.88643463G>CCA397057018CYBAc.394C>G (p.Pro132Ala)
c.*695C>G (n.*695C>G)
c.*732C>G (n.*732C>G)
c.*401C>G (n.*401C>G)
c.505C>G (p.Pro169Ala)
c.608C>G (p.Pro203Arg)
c.*1197C>G (n.*1197C>G)
c.427C>G (p.Pro143Ala)
c.478C>G (p.Pro160Ala)
16g.88643463G>TCA397057023CYBAc.394C>A (p.Pro132Thr)
c.*695C>A (n.*695C>A)
c.*732C>A (n.*732C>A)
c.*401C>A (n.*401C>A)
c.505C>A (p.Pro169Thr)
c.608C>A (p.Pro203His)
c.*1197C>A (n.*1197C>A)
c.427C>A (p.Pro143Thr)
c.478C>A (p.Pro160Thr)
 gnomAD v4
16g.88643464G>ACA497362149CYBAc.393C>T (p.Pro131=)
c.*694C>T (n.*694C>T)
c.*731C>T (n.*731C>T)
c.*400C>T (n.*400C>T)
c.504C>T (p.Pro168=)
c.607C>T (p.Pro203Ser)
c.*1196C>T (n.*1196C>T)
c.426C>T (p.Pro142=)
c.477C>T (p.Pro159=)
 dbSNP gnomAD v4
16g.88643464G>CCA497362146CYBAc.393C>G (p.Pro131=)
c.*694C>G (n.*694C>G)
c.*731C>G (n.*731C>G)
c.*400C>G (n.*400C>G)
c.504C>G (p.Pro168=)
c.607C>G (p.Pro203Ala)
c.*1196C>G (n.*1196C>G)
c.426C>G (p.Pro142=)
c.477C>G (p.Pro159=)
16g.88643464G=CA2241199669CYBAc.393C= (p.Pro131=)
c.*694C= (n.*694C=)
c.*731C= (n.*731C=)
c.*400C= (n.*400C=)
c.504C= (p.Pro168=)
c.607C= (p.Pro203=)
c.*1196C= (n.*1196C=)
c.426C= (p.Pro142=)
c.477C= (p.Pro159=)
16g.88643464G>TCA497362148CYBAc.393C>A (p.Pro131=)
c.*694C>A (n.*694C>A)
c.*731C>A (n.*731C>A)
c.*400C>A (n.*400C>A)
c.504C>A (p.Pro168=)
c.607C>A (p.Pro203Thr)
c.*1196C>A (n.*1196C>A)
c.426C>A (p.Pro142=)
c.477C>A (p.Pro159=)
 gnomAD v4
16g.88643467_88643476delCA2808064016CYBAc.384_393del (p.Pro129ArgfsTer?)
c.*685_*694del (n.*685_*694del)
c.*722_*731del (n.*722_*731del)
c.*391_*400del (n.*391_*400del)
c.495_504del (p.Pro166ArgfsTer?)
c.598_607del (p.Ala200ProfsTer?)
c.*1187_*1196del (n.*1187_*1196del)
c.417_426del (p.Pro140ArgfsTer?)
c.468_477del (p.Pro157ArgfsTer?)
16g.88643465G>ACA397057034CYBAc.392C>T (p.Pro131Leu)
c.*693C>T (n.*693C>T)
c.*730C>T (n.*730C>T)
c.*399C>T (n.*399C>T)
c.503C>T (p.Pro168Leu)
c.606C>T (p.Ala202=)
c.*1195C>T (n.*1195C>T)
c.425C>T (p.Pro142Leu)
c.476C>T (p.Pro159Leu)
 ClinVar dbSNP
16g.88643465G>CCA397057041CYBAc.392C>G (p.Pro131Arg)
c.*693C>G (n.*693C>G)
c.*730C>G (n.*730C>G)
c.*399C>G (n.*399C>G)
c.503C>G (p.Pro168Arg)
c.606C>G (p.Ala202=)
c.*1195C>G (n.*1195C>G)
c.425C>G (p.Pro142Arg)
c.476C>G (p.Pro159Arg)
 gnomAD v4
16g.88643465G=CA2241199670CYBAc.392C= (p.Pro131=)
c.*693C= (n.*693C=)
c.*730C= (n.*730C=)
c.*399C= (n.*399C=)
c.503C= (p.Pro168=)
c.606C= (p.Ala202=)
c.*1195C= (n.*1195C=)
c.425C= (p.Pro142=)
c.476C= (p.Pro159=)
16g.88643465G>TCA397057045CYBAc.392C>A (p.Pro131His)
c.*693C>A (n.*693C>A)
c.*730C>A (n.*730C>A)
c.*399C>A (n.*399C>A)
c.503C>A (p.Pro168His)
c.606C>A (p.Ala202=)
c.*1195C>A (n.*1195C>A)
c.425C>A (p.Pro142His)
c.476C>A (p.Pro159His)
 gnomAD v4
16g.88643466G>ACA8228192CYBAc.391C>T (p.Pro131Ser)
c.*692C>T (n.*692C>T)
c.*729C>T (n.*729C>T)
c.*398C>T (n.*398C>T)
c.502C>T (p.Pro168Ser)
c.605C>T (p.Ala202Val)
c.*1194C>T (n.*1194C>T)
c.424C>T (p.Pro142Ser)
c.475C>T (p.Pro159Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643466G>CCA397057062CYBAc.391C>G (p.Pro131Ala)
c.*692C>G (n.*692C>G)
c.*729C>G (n.*729C>G)
c.*398C>G (n.*398C>G)
c.502C>G (p.Pro168Ala)
c.605C>G (p.Ala202Gly)
c.*1194C>G (n.*1194C>G)
c.424C>G (p.Pro142Ala)
c.475C>G (p.Pro159Ala)
16g.88643466G=CA2241199671CYBAc.391C= (p.Pro131=)
c.*692C= (n.*692C=)
c.*729C= (n.*729C=)
c.*398C= (n.*398C=)
c.502C= (p.Pro168=)
c.605C= (p.Ala202=)
c.*1194C= (n.*1194C=)
c.424C= (p.Pro142=)
c.475C= (p.Pro159=)
16g.88643466G>TCA397057059CYBAc.391C>A (p.Pro131Thr)
c.*692C>A (n.*692C>A)
c.*729C>A (n.*729C>A)
c.*398C>A (n.*398C>A)
c.502C>A (p.Pro168Thr)
c.605C>A (p.Ala202Asp)
c.*1194C>A (n.*1194C>A)
c.424C>A (p.Pro142Thr)
c.475C>A (p.Pro159Thr)
 gnomAD v4
16g.88643467C>ACA497362152CYBAc.390G>T (p.Arg130=)
c.*691G>T (n.*691G>T)
c.*728G>T (n.*728G>T)
c.*397G>T (n.*397G>T)
c.501G>T (p.Arg167=)
c.604G>T (p.Ala202Ser)
c.*1193G>T (n.*1193G>T)
c.423G>T (p.Arg141=)
c.474G>T (p.Arg158=)
 gnomAD v4
16g.88643467C>GCA497362155CYBAc.390G>C (p.Arg130=)
c.*691G>C (n.*691G>C)
c.*728G>C (n.*728G>C)
c.*397G>C (n.*397G>C)
c.501G>C (p.Arg167=)
c.604G>C (p.Ala202Pro)
c.*1193G>C (n.*1193G>C)
c.423G>C (p.Arg141=)
c.474G>C (p.Arg158=)
 gnomAD v4
16g.88643467C>TCA497362153CYBAc.390G>A (p.Arg130=)
c.*691G>A (n.*691G>A)
c.*728G>A (n.*728G>A)
c.*397G>A (n.*397G>A)
c.501G>A (p.Arg167=)
c.604G>A (p.Ala202Thr)
c.*1193G>A (n.*1193G>A)
c.423G>A (p.Arg141=)
c.474G>A (p.Arg158=)
 gnomAD v4
16g.88643468C>ACA397057072CYBAc.389G>T (p.Arg130Leu)
c.*690G>T (n.*690G>T)
c.*727G>T (n.*727G>T)
c.*396G>T (n.*396G>T)
c.500G>T (p.Arg167Leu)
c.603G>T (p.Ala201=)
c.*1192G>T (n.*1192G>T)
c.422G>T (p.Arg141Leu)
c.473G>T (p.Arg158Leu)
 gnomAD v4
16g.88643468C=CA2241199672CYBAc.389G= (p.Arg130=)
c.*690G= (n.*690G=)
c.*727G= (n.*727G=)
c.*396G= (n.*396G=)
c.500G= (p.Arg167=)
c.603G= (p.Ala201=)
c.*1192G= (n.*1192G=)
c.422G= (p.Arg141=)
c.473G= (p.Arg158=)
16g.88643468C>GCA397057076CYBAc.389G>C (p.Arg130Pro)
c.*690G>C (n.*690G>C)
c.*727G>C (n.*727G>C)
c.*396G>C (n.*396G>C)
c.500G>C (p.Arg167Pro)
c.603G>C (p.Ala201=)
c.*1192G>C (n.*1192G>C)
c.422G>C (p.Arg141Pro)
c.473G>C (p.Arg158Pro)
16g.88643468C>TCA286348297CYBAc.389G>A (p.Arg130Gln)
c.*690G>A (n.*690G>A)
c.*727G>A (n.*727G>A)
c.*396G>A (n.*396G>A)
c.500G>A (p.Arg167Gln)
c.603G>A (p.Ala201=)
c.*1192G>A (n.*1192G>A)
c.422G>A (p.Arg141Gln)
c.473G>A (p.Arg158Gln)
 dbSNP gnomAD v4
16g.88643469G>ACA286348298CYBAc.388C>T (p.Arg130Trp)
c.*689C>T (n.*689C>T)
c.*726C>T (n.*726C>T)
c.*395C>T (n.*395C>T)
c.499C>T (p.Arg167Trp)
c.602C>T (p.Ala201Val)
c.*1191C>T (n.*1191C>T)
c.421C>T (p.Arg141Trp)
c.472C>T (p.Arg158Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643469G>CCA397057082CYBAc.388C>G (p.Arg130Gly)
c.*689C>G (n.*689C>G)
c.*726C>G (n.*726C>G)
c.*395C>G (n.*395C>G)
c.499C>G (p.Arg167Gly)
c.602C>G (p.Ala201Gly)
c.*1191C>G (n.*1191C>G)
c.421C>G (p.Arg141Gly)
c.472C>G (p.Arg158Gly)
16g.88643469G=CA2241199674CYBAc.388C= (p.Arg130=)
c.*689C= (n.*689C=)
c.*726C= (n.*726C=)
c.*395C= (n.*395C=)
c.499C= (p.Arg167=)
c.602C= (p.Ala201=)
c.*1191C= (n.*1191C=)
c.421C= (p.Arg141=)
c.472C= (p.Arg158=)
16g.88643469G>TCA497362156CYBAc.388C>A (p.Arg130=)
c.*689C>A (n.*689C>A)
c.*726C>A (n.*726C>A)
c.*395C>A (n.*395C>A)
c.499C>A (p.Arg167=)
c.602C>A (p.Ala201Glu)
c.*1191C>A (n.*1191C>A)
c.421C>A (p.Arg141=)
c.472C>A (p.Arg158=)
 gnomAD v4
16g.88643469dupCA2241199673CYBAc.388dup (p.Arg130ProfsTer?)
c.*689dup (n.*689dup)
c.*726dup (n.*726dup)
c.*395dup (n.*395dup)
c.499dup (p.Arg167ProfsTer?)
c.602dup (p.Ala202GlyfsTer?)
c.*1191dup (n.*1191dup)
c.421dup (p.Arg141ProfsTer?)
c.472dup (p.Arg158ProfsTer?)
 dbSNP
16g.88643470C>ACA497362158CYBAc.387G>T (p.Pro129=)
c.*688G>T (n.*688G>T)
c.*725G>T (n.*725G>T)
c.*394G>T (n.*394G>T)
c.498G>T (p.Pro166=)
c.601G>T (p.Ala201Ser)
c.*1190G>T (n.*1190G>T)
c.420G>T (p.Pro140=)
c.471G>T (p.Pro157=)
 gnomAD v4
16g.88643470C=CA2241199675CYBAc.387G= (p.Pro129=)
c.*688G= (n.*688G=)
c.*725G= (n.*725G=)
c.*394G= (n.*394G=)
c.498G= (p.Pro166=)
c.601G= (p.Ala201=)
c.*1190G= (n.*1190G=)
c.420G= (p.Pro140=)
c.471G= (p.Pro157=)
16g.88643470C>GCA497362160CYBAc.387G>C (p.Pro129=)
c.*688G>C (n.*688G>C)
c.*725G>C (n.*725G>C)
c.*394G>C (n.*394G>C)
c.498G>C (p.Pro166=)
c.601G>C (p.Ala201Pro)
c.*1190G>C (n.*1190G>C)
c.420G>C (p.Pro140=)
c.471G>C (p.Pro157=)
16g.88643470C>TCA286348301CYBAc.387G>A (p.Pro129=)
c.*688G>A (n.*688G>A)
c.*725G>A (n.*725G>A)
c.*394G>A (n.*394G>A)
c.498G>A (p.Pro166=)
c.601G>A (p.Ala201Thr)
c.*1190G>A (n.*1190G>A)
c.420G>A (p.Pro140=)
c.471G>A (p.Pro157=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643471G>ACA286348305CYBAc.386C>T (p.Pro129Leu)
c.*687C>T (n.*687C>T)
c.*724C>T (n.*724C>T)
c.*393C>T (n.*393C>T)
c.497C>T (p.Pro166Leu)
c.600C>T (p.Ala200=)
c.*1189C>T (n.*1189C>T)
c.419C>T (p.Pro140Leu)
c.470C>T (p.Pro157Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643471G>CCA397057086CYBAc.386C>G (p.Pro129Arg)
c.*687C>G (n.*687C>G)
c.*724C>G (n.*724C>G)
c.*393C>G (n.*393C>G)
c.497C>G (p.Pro166Arg)
c.600C>G (p.Ala200=)
c.*1189C>G (n.*1189C>G)
c.419C>G (p.Pro140Arg)
c.470C>G (p.Pro157Arg)
16g.88643471G=CA2241199676CYBAc.386C= (p.Pro129=)
c.*687C= (n.*687C=)
c.*724C= (n.*724C=)
c.*393C= (n.*393C=)
c.497C= (p.Pro166=)
c.600C= (p.Ala200=)
c.*1189C= (n.*1189C=)
c.419C= (p.Pro140=)
c.470C= (p.Pro157=)
16g.88643471G>TCA397057091CYBAc.386C>A (p.Pro129Gln)
c.*687C>A (n.*687C>A)
c.*724C>A (n.*724C>A)
c.*393C>A (n.*393C>A)
c.497C>A (p.Pro166Gln)
c.600C>A (p.Ala200=)
c.*1189C>A (n.*1189C>A)
c.419C>A (p.Pro140Gln)
c.470C>A (p.Pro157Gln)
 dbSNP gnomAD v2 gnomAD v4
16g.88643472G>ACA397057105CYBAc.385C>T (p.Pro129Ser)
c.*686C>T (n.*686C>T)
c.*723C>T (n.*723C>T)
c.*392C>T (n.*392C>T)
c.496C>T (p.Pro166Ser)
c.599C>T (p.Ala200Val)
c.*1188C>T (n.*1188C>T)
c.418C>T (p.Pro140Ser)
c.469C>T (p.Pro157Ser)
 gnomAD v4
16g.88643472G>CCA397057108CYBAc.385C>G (p.Pro129Ala)
c.*686C>G (n.*686C>G)
c.*723C>G (n.*723C>G)
c.*392C>G (n.*392C>G)
c.496C>G (p.Pro166Ala)
c.599C>G (p.Ala200Gly)
c.*1188C>G (n.*1188C>G)
c.418C>G (p.Pro140Ala)
c.469C>G (p.Pro157Ala)
16g.88643472G>TCA397057107CYBAc.385C>A (p.Pro129Thr)
c.*686C>A (n.*686C>A)
c.*723C>A (n.*723C>A)
c.*392C>A (n.*392C>A)
c.496C>A (p.Pro166Thr)
c.599C>A (p.Ala200Asp)
c.*1188C>A (n.*1188C>A)
c.418C>A (p.Pro140Thr)
c.469C>A (p.Pro157Thr)
 gnomAD v4
16g.88643473C>ACA497362162CYBAc.384G>T (p.Pro128=)
c.*685G>T (n.*685G>T)
c.*722G>T (n.*722G>T)
c.*391G>T (n.*391G>T)
c.495G>T (p.Pro165=)
c.598G>T (p.Ala200Ser)
c.*1187G>T (n.*1187G>T)
c.417G>T (p.Pro139=)
c.468G>T (p.Pro156=)
 dbSNP gnomAD v4
16g.88643473C=CA2241199677CYBAc.384G= (p.Pro128=)
c.*685G= (n.*685G=)
c.*722G= (n.*722G=)
c.*391G= (n.*391G=)
c.495G= (p.Pro165=)
c.598G= (p.Ala200=)
c.*1187G= (n.*1187G=)
c.417G= (p.Pro139=)
c.468G= (p.Pro156=)
16g.88643473C>GCA286348310CYBAc.384G>C (p.Pro128=)
c.*685G>C (n.*685G>C)
c.*722G>C (n.*722G>C)
c.*391G>C (n.*391G>C)
c.495G>C (p.Pro165=)
c.598G>C (p.Ala200Pro)
c.*1187G>C (n.*1187G>C)
c.417G>C (p.Pro139=)
c.468G>C (p.Pro156=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88643473C>TCA286348313CYBAc.384G>A (p.Pro128=)
c.*685G>A (n.*685G>A)
c.*722G>A (n.*722G>A)
c.*391G>A (n.*391G>A)
c.495G>A (p.Pro165=)
c.598G>A (p.Ala200Thr)
c.*1187G>A (n.*1187G>A)
c.417G>A (p.Pro139=)
c.468G>A (p.Pro156=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643474G>ACA397057110CYBAc.383C>T (p.Pro128Leu)
c.*684C>T (n.*684C>T)
c.*721C>T (n.*721C>T)
c.*390C>T (n.*390C>T)
c.494C>T (p.Pro165Leu)
c.597C>T (p.Pro199=)
c.*1186C>T (n.*1186C>T)
c.416C>T (p.Pro139Leu)
c.467C>T (p.Pro156Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.88643474G>CCA397057114CYBAc.383C>G (p.Pro128Arg)
c.*684C>G (n.*684C>G)
c.*721C>G (n.*721C>G)
c.*390C>G (n.*390C>G)
c.494C>G (p.Pro165Arg)
c.597C>G (p.Pro199=)
c.*1186C>G (n.*1186C>G)
c.416C>G (p.Pro139Arg)
c.467C>G (p.Pro156Arg)
16g.88643474G=CA2241199678CYBAc.383C= (p.Pro128=)
c.*684C= (n.*684C=)
c.*721C= (n.*721C=)
c.*390C= (n.*390C=)
c.494C= (p.Pro165=)
c.597C= (p.Pro199=)
c.*1186C= (n.*1186C=)
c.416C= (p.Pro139=)
c.467C= (p.Pro156=)
16g.88643474G>TCA115452CYBAc.383C>A (p.Pro128Gln)
c.*684C>A (n.*684C>A)
c.*721C>A (n.*721C>A)
c.*390C>A (n.*390C>A)
c.494C>A (p.Pro165Gln)
c.597C>A (p.Pro199=)
c.*1186C>A (n.*1186C>A)
c.416C>A (p.Pro139Gln)
c.467C>A (p.Pro156Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643479dupCA2576090799CYBAc.383dup (p.Pro129AlafsTer?)
c.*684dup (n.*684dup)
c.*721dup (n.*721dup)
c.*390dup (n.*390dup)
c.494dup (p.Pro166AlafsTer?)
c.597dup (p.Ala200ArgfsTer?)
c.*1186dup (n.*1186dup)
c.416dup (p.Pro140AlafsTer?)
c.467dup (p.Pro157AlafsTer?)
 ClinVar gnomAD v4
16g.88643479delCA2634848278CYBAc.383del (p.Pro128ArgfsTer?)
c.*684del (n.*684del)
c.*721del (n.*721del)
c.*390del (n.*390del)
c.494del (p.Pro165ArgfsTer?)
c.597del (p.Ala200ProfsTer?)
c.*1186del (n.*1186del)
c.416del (p.Pro139ArgfsTer?)
c.467del (p.Pro156ArgfsTer?)
 ClinVar gnomAD v4
16g.88643475G>ACA397057121CYBAc.382C>T (p.Pro128Ser)
c.*683C>T (n.*683C>T)
c.*720C>T (n.*720C>T)
c.*389C>T (n.*389C>T)
c.493C>T (p.Pro165Ser)
c.596C>T (p.Pro199Leu)
c.*1185C>T (n.*1185C>T)
c.415C>T (p.Pro139Ser)
c.466C>T (p.Pro156Ser)
 gnomAD v4
16g.88643475G>CCA397057125CYBAc.382C>G (p.Pro128Ala)
c.*683C>G (n.*683C>G)
c.*720C>G (n.*720C>G)
c.*389C>G (n.*389C>G)
c.493C>G (p.Pro165Ala)
c.596C>G (p.Pro199Arg)
c.*1185C>G (n.*1185C>G)
c.415C>G (p.Pro139Ala)
c.466C>G (p.Pro156Ala)
16g.88643475G>TCA397057130CYBAc.382C>A (p.Pro128Thr)
c.*683C>A (n.*683C>A)
c.*720C>A (n.*720C>A)
c.*389C>A (n.*389C>A)
c.493C>A (p.Pro165Thr)
c.596C>A (p.Pro199His)
c.*1185C>A (n.*1185C>A)
c.415C>A (p.Pro139Thr)
c.466C>A (p.Pro156Thr)
 gnomAD v4
16g.88643476G>ACA497362164CYBAc.381C>T (p.Pro127=)
c.*682C>T (n.*682C>T)
c.*719C>T (n.*719C>T)
c.*388C>T (n.*388C>T)
c.492C>T (p.Pro164=)
c.595C>T (p.Pro199Ser)
c.*1184C>T (n.*1184C>T)
c.414C>T (p.Pro138=)
c.465C>T (p.Pro155=)
 gnomAD v4
16g.88643476G>CCA497362166CYBAc.381C>G (p.Pro127=)
c.*682C>G (n.*682C>G)
c.*719C>G (n.*719C>G)
c.*388C>G (n.*388C>G)
c.492C>G (p.Pro164=)
c.595C>G (p.Pro199Ala)
c.*1184C>G (n.*1184C>G)
c.414C>G (p.Pro138=)
c.465C>G (p.Pro155=)
16g.88643476G>TCA497362168CYBAc.381C>A (p.Pro127=)
c.*682C>A (n.*682C>A)
c.*719C>A (n.*719C>A)
c.*388C>A (n.*388C>A)
c.492C>A (p.Pro164=)
c.595C>A (p.Pro199Thr)
c.*1184C>A (n.*1184C>A)
c.414C>A (p.Pro138=)
c.465C>A (p.Pro155=)
 gnomAD v4
16g.88643477G>ACA397057152CYBAc.380C>T (p.Pro127Leu)
c.*681C>T (n.*681C>T)
c.*718C>T (n.*718C>T)
c.*387C>T (n.*387C>T)
c.491C>T (p.Pro164Leu)
c.594C>T (p.Pro198=)
c.*1183C>T (n.*1183C>T)
c.413C>T (p.Pro138Leu)
c.464C>T (p.Pro155Leu)
16g.88643477G>CCA397057145CYBAc.380C>G (p.Pro127Arg)
c.*681C>G (n.*681C>G)
c.*718C>G (n.*718C>G)
c.*387C>G (n.*387C>G)
c.491C>G (p.Pro164Arg)
c.594C>G (p.Pro198=)
c.*1183C>G (n.*1183C>G)
c.413C>G (p.Pro138Arg)
c.464C>G (p.Pro155Arg)
16g.88643477G>TCA397057146CYBAc.380C>A (p.Pro127His)
c.*681C>A (n.*681C>A)
c.*718C>A (n.*718C>A)
c.*387C>A (n.*387C>A)
c.491C>A (p.Pro164His)
c.594C>A (p.Pro198=)
c.*1183C>A (n.*1183C>A)
c.413C>A (p.Pro138His)
c.464C>A (p.Pro155His)
 gnomAD v4
16g.88643478G>ACA397057155CYBAc.379C>T (p.Pro127Ser)
c.*680C>T (n.*680C>T)
c.*717C>T (n.*717C>T)
c.*386C>T (n.*386C>T)
c.490C>T (p.Pro164Ser)
c.593C>T (p.Pro198Leu)
c.*1182C>T (n.*1182C>T)
c.412C>T (p.Pro138Ser)
c.463C>T (p.Pro155Ser)
 gnomAD v4
16g.88643478G>CCA397057156CYBAc.379C>G (p.Pro127Ala)
c.*680C>G (n.*680C>G)
c.*717C>G (n.*717C>G)
c.*386C>G (n.*386C>G)
c.490C>G (p.Pro164Ala)
c.593C>G (p.Pro198Arg)
c.*1182C>G (n.*1182C>G)
c.412C>G (p.Pro138Ala)
c.463C>G (p.Pro155Ala)
 dbSNP gnomAD v3 gnomAD v4
16g.88643478G=CA2241199679CYBAc.379C= (p.Pro127=)
c.*680C= (n.*680C=)
c.*717C= (n.*717C=)
c.*386C= (n.*386C=)
c.490C= (p.Pro164=)
c.593C= (p.Pro198=)
c.*1182C= (n.*1182C=)
c.412C= (p.Pro138=)
c.463C= (p.Pro155=)
16g.88643478G>TCA397057157CYBAc.379C>A (p.Pro127Thr)
c.*680C>A (n.*680C>A)
c.*717C>A (n.*717C>A)
c.*386C>A (n.*386C>A)
c.490C>A (p.Pro164Thr)
c.593C>A (p.Pro198His)
c.*1182C>A (n.*1182C>A)
c.412C>A (p.Pro138Thr)
c.463C>A (p.Pro155Thr)
 gnomAD v4
16g.88643479G>ACA497362170CYBAc.378C>T (p.Asn126=)
c.*679C>T (n.*679C>T)
c.*716C>T (n.*716C>T)
c.*385C>T (n.*385C>T)
c.489C>T (p.Asn163=)
c.592C>T (p.Pro198Ser)
c.*1181C>T (n.*1181C>T)
c.411C>T (p.Asn137=)
c.462C>T (p.Asn154=)
 dbSNP gnomAD v4
16g.88643479G>CCA397057159CYBAc.378C>G (p.Asn126Lys)
c.*679C>G (n.*679C>G)
c.*716C>G (n.*716C>G)
c.*385C>G (n.*385C>G)
c.489C>G (p.Asn163Lys)
c.592C>G (p.Pro198Ala)
c.*1181C>G (n.*1181C>G)
c.411C>G (p.Asn137Lys)
c.462C>G (p.Asn154Lys)
 gnomAD v4
16g.88643479G=CA2241199680CYBAc.378C= (p.Asn126=)
c.*679C= (n.*679C=)
c.*716C= (n.*716C=)
c.*385C= (n.*385C=)
c.489C= (p.Asn163=)
c.592C= (p.Pro198=)
c.*1181C= (n.*1181C=)
c.411C= (p.Asn137=)
c.462C= (p.Asn154=)
16g.88643479G>TCA397057166CYBAc.378C>A (p.Asn126Lys)
c.*679C>A (n.*679C>A)
c.*716C>A (n.*716C>A)
c.*385C>A (n.*385C>A)
c.489C>A (p.Asn163Lys)
c.592C>A (p.Pro198Thr)
c.*1181C>A (n.*1181C>A)
c.411C>A (p.Asn137Lys)
c.462C>A (p.Asn154Lys)
 gnomAD v4
16g.88643480T>ACA397057171CYBAc.377A>T (p.Asn126Ile)
c.*678A>T (n.*678A>T)
c.*715A>T (n.*715A>T)
c.*384A>T (n.*384A>T)
c.488A>T (p.Asn163Ile)
c.591A>T (p.Gln197His)
c.*1180A>T (n.*1180A>T)
c.410A>T (p.Asn137Ile)
c.461A>T (p.Asn154Ile)
 dbSNP gnomAD v3 gnomAD v4
16g.88643480T>CCA397057184CYBAc.377A>G (p.Asn126Ser)
c.*678A>G (n.*678A>G)
c.*715A>G (n.*715A>G)
c.*384A>G (n.*384A>G)
c.488A>G (p.Asn163Ser)
c.591A>G (p.Gln197=)
c.*1180A>G (n.*1180A>G)
c.410A>G (p.Asn137Ser)
c.461A>G (p.Asn154Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.88643480T>GCA8228193CYBAc.377A>C (p.Asn126Thr)
c.*678A>C (n.*678A>C)
c.*715A>C (n.*715A>C)
c.*384A>C (n.*384A>C)
c.488A>C (p.Asn163Thr)
c.591A>C (p.Gln197His)
c.*1180A>C (n.*1180A>C)
c.410A>C (p.Asn137Thr)
c.461A>C (p.Asn154Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643480T=CA2241199681CYBAc.377A= (p.Asn126=)
c.*678A= (n.*678A=)
c.*715A= (n.*715A=)
c.*384A= (n.*384A=)
c.488A= (p.Asn163=)
c.591A= (p.Gln197=)
c.*1180A= (n.*1180A=)
c.410A= (p.Asn137=)
c.461A= (p.Asn154=)
16g.88643481T>ACA397057188CYBAc.376A>T (p.Asn126Tyr)
c.*677A>T (n.*677A>T)
c.*714A>T (n.*714A>T)
c.*383A>T (n.*383A>T)
c.487A>T (p.Asn163Tyr)
c.590A>T (p.Gln197Leu)
c.*1179A>T (n.*1179A>T)
c.409A>T (p.Asn137Tyr)
c.460A>T (p.Asn154Tyr)
16g.88643481T>CCA397057190CYBAc.376A>G (p.Asn126Asp)
c.*677A>G (n.*677A>G)
c.*714A>G (n.*714A>G)
c.*383A>G (n.*383A>G)
c.487A>G (p.Asn163Asp)
c.590A>G (p.Gln197Arg)
c.*1179A>G (n.*1179A>G)
c.409A>G (p.Asn137Asp)
c.460A>G (p.Asn154Asp)
16g.88643481T>GCA397057192CYBAc.376A>C (p.Asn126His)
c.*677A>C (n.*677A>C)
c.*714A>C (n.*714A>C)
c.*383A>C (n.*383A>C)
c.487A>C (p.Asn163His)
c.590A>C (p.Gln197Pro)
c.*1179A>C (n.*1179A>C)
c.409A>C (p.Asn137His)
c.460A>C (p.Asn154His)
16g.88643482G>ACA497362173CYBAc.375C>T (p.Ser125=)
c.*676C>T (n.*676C>T)
c.*713C>T (n.*713C>T)
c.*382C>T (n.*382C>T)
c.486C>T (p.Ser162=)
c.589C>T (p.Gln197Ter)
c.*1178C>T (n.*1178C>T)
c.408C>T (p.Ser136=)
c.459C>T (p.Ser153=)
 gnomAD v4
16g.88643482G>CCA397057194CYBAc.375C>G (p.Ser125Arg)
c.*676C>G (n.*676C>G)
c.*713C>G (n.*713C>G)
c.*382C>G (n.*382C>G)
c.486C>G (p.Ser162Arg)
c.589C>G (p.Gln197Glu)
c.*1178C>G (n.*1178C>G)
c.408C>G (p.Ser136Arg)
c.459C>G (p.Ser153Arg)
16g.88643482G>TCA397057199CYBAc.375C>A (p.Ser125Arg)
c.*676C>A (n.*676C>A)
c.*713C>A (n.*713C>A)
c.*382C>A (n.*382C>A)
c.486C>A (p.Ser162Arg)
c.589C>A (p.Gln197Lys)
c.*1178C>A (n.*1178C>A)
c.408C>A (p.Ser136Arg)
c.459C>A (p.Ser153Arg)
 gnomAD v4
16g.88643483C>ACA397057203CYBAc.374G>T (p.Ser125Ile)
c.*675G>T (n.*675G>T)
c.*712G>T (n.*712G>T)
c.*381G>T (n.*381G>T)
c.485G>T (p.Ser162Ile)
c.588G>T (p.Gln196His)
c.*1177G>T (n.*1177G>T)
c.407G>T (p.Ser136Ile)
c.458G>T (p.Ser153Ile)
 gnomAD v4
16g.88643483C=CA2241199682CYBAc.374G= (p.Ser125=)
c.*675G= (n.*675G=)
c.*712G= (n.*712G=)
c.*381G= (n.*381G=)
c.485G= (p.Ser162=)
c.588G= (p.Gln196=)
c.*1177G= (n.*1177G=)
c.407G= (p.Ser136=)
c.458G= (p.Ser153=)
16g.88643483C>GCA397057205CYBAc.374G>C (p.Ser125Thr)
c.*675G>C (n.*675G>C)
c.*712G>C (n.*712G>C)
c.*381G>C (n.*381G>C)
c.485G>C (p.Ser162Thr)
c.588G>C (p.Gln196His)
c.*1177G>C (n.*1177G>C)
c.407G>C (p.Ser136Thr)
c.458G>C (p.Ser153Thr)
16g.88643483C>TCA397057207CYBAc.374G>A (p.Ser125Asn)
c.*675G>A (n.*675G>A)
c.*712G>A (n.*712G>A)
c.*381G>A (n.*381G>A)
c.485G>A (p.Ser162Asn)
c.588G>A (p.Gln196=)
c.*1177G>A (n.*1177G>A)
c.407G>A (p.Ser136Asn)
c.458G>A (p.Ser153Asn)
 dbSNP gnomAD v4
16g.88643484T>ACA397057216CYBAc.373A>T (p.Ser125Cys)
c.*674A>T (n.*674A>T)
c.*711A>T (n.*711A>T)
c.*380A>T (n.*380A>T)
c.484A>T (p.Ser162Cys)
c.587A>T (p.Gln196Leu)
c.*1176A>T (n.*1176A>T)
c.406A>T (p.Ser136Cys)
c.457A>T (p.Ser153Cys)
16g.88643484T>CCA397057220CYBAc.373A>G (p.Ser125Gly)
c.*674A>G (n.*674A>G)
c.*711A>G (n.*711A>G)
c.*380A>G (n.*380A>G)
c.484A>G (p.Ser162Gly)
c.587A>G (p.Gln196Arg)
c.*1176A>G (n.*1176A>G)
c.406A>G (p.Ser136Gly)
c.457A>G (p.Ser153Gly)
 gnomAD v4
16g.88643484T>GCA397057222CYBAc.373A>C (p.Ser125Arg)
c.*674A>C (n.*674A>C)
c.*711A>C (n.*711A>C)
c.*380A>C (n.*380A>C)
c.484A>C (p.Ser162Arg)
c.587A>C (p.Gln196Pro)
c.*1176A>C (n.*1176A>C)
c.406A>C (p.Ser136Arg)
c.457A>C (p.Ser153Arg)
16g.88643485G>ACA497362175CYBAc.372C>T (p.Pro124=)
c.*673C>T (n.*673C>T)
c.*710C>T (n.*710C>T)
c.*379C>T (n.*379C>T)
c.483C>T (p.Pro161=)
c.586C>T (p.Gln196Ter)
c.*1175C>T (n.*1175C>T)
c.405C>T (p.Pro135=)
c.456C>T (p.Pro152=)
 dbSNP gnomAD v4
16g.88643485G>CCA497362177CYBAc.372C>G (p.Pro124=)
c.*673C>G (n.*673C>G)
c.*710C>G (n.*710C>G)
c.*379C>G (n.*379C>G)
c.483C>G (p.Pro161=)
c.586C>G (p.Gln196Glu)
c.*1175C>G (n.*1175C>G)
c.405C>G (p.Pro135=)
c.456C>G (p.Pro152=)
16g.88643485G=CA2241199683CYBAc.372C= (p.Pro124=)
c.*673C= (n.*673C=)
c.*710C= (n.*710C=)
c.*379C= (n.*379C=)
c.483C= (p.Pro161=)
c.586C= (p.Gln196=)
c.*1175C= (n.*1175C=)
c.405C= (p.Pro135=)
c.456C= (p.Pro152=)
16g.88643485G>TCA497362178CYBAc.372C>A (p.Pro124=)
c.*673C>A (n.*673C>A)
c.*710C>A (n.*710C>A)
c.*379C>A (n.*379C>A)
c.483C>A (p.Pro161=)
c.586C>A (p.Gln196Lys)
c.*1175C>A (n.*1175C>A)
c.405C>A (p.Pro135=)
c.456C>A (p.Pro152=)
 gnomAD v4
16g.88643487delCA2634848313CYBAc.372del (p.Ser125AlafsTer?)
c.*673del (n.*673del)
c.*710del (n.*710del)
c.*379del (n.*379del)
c.483del (p.Ser162AlafsTer?)
c.586del (p.Gln196SerfsTer?)
c.*1175del (n.*1175del)
c.405del (p.Ser136AlafsTer?)
c.456del (p.Ser153AlafsTer?)
 gnomAD v4
16g.88643486G>ACA397057230CYBAc.371C>T (p.Pro124Leu)
c.*672C>T (n.*672C>T)
c.*709C>T (n.*709C>T)
c.*378C>T (n.*378C>T)
c.482C>T (p.Pro161Leu)
c.585C>T (p.Ala195=)
c.*1174C>T (n.*1174C>T)
c.404C>T (p.Pro135Leu)
c.455C>T (p.Pro152Leu)
 gnomAD v4
16g.88643486G>CCA397057235CYBAc.371C>G (p.Pro124Arg)
c.*672C>G (n.*672C>G)
c.*709C>G (n.*709C>G)
c.*378C>G (n.*378C>G)
c.482C>G (p.Pro161Arg)
c.585C>G (p.Ala195=)
c.*1174C>G (n.*1174C>G)
c.404C>G (p.Pro135Arg)
c.455C>G (p.Pro152Arg)
16g.88643486G>TCA397057223CYBAc.371C>A (p.Pro124His)
c.*672C>A (n.*672C>A)
c.*709C>A (n.*709C>A)
c.*378C>A (n.*378C>A)
c.482C>A (p.Pro161His)
c.585C>A (p.Ala195=)
c.*1174C>A (n.*1174C>A)
c.404C>A (p.Pro135His)
c.455C>A (p.Pro152His)
 gnomAD v4
16g.88643487G>ACA397057239CYBAc.370C>T (p.Pro124Ser)
c.*671C>T (n.*671C>T)
c.*708C>T (n.*708C>T)
c.*377C>T (n.*377C>T)
c.481C>T (p.Pro161Ser)
c.584C>T (p.Ala195Val)
c.*1173C>T (n.*1173C>T)
c.403C>T (p.Pro135Ser)
c.454C>T (p.Pro152Ser)
 gnomAD v4
16g.88643487G>CCA397057236CYBAc.370C>G (p.Pro124Ala)
c.*671C>G (n.*671C>G)
c.*708C>G (n.*708C>G)
c.*377C>G (n.*377C>G)
c.481C>G (p.Pro161Ala)
c.584C>G (p.Ala195Gly)
c.*1173C>G (n.*1173C>G)
c.403C>G (p.Pro135Ala)
c.454C>G (p.Pro152Ala)
16g.88643487G>TCA397057245CYBAc.370C>A (p.Pro124Thr)
c.*671C>A (n.*671C>A)
c.*708C>A (n.*708C>A)
c.*377C>A (n.*377C>A)
c.481C>A (p.Pro161Thr)
c.584C>A (p.Ala195Asp)
c.*1173C>A (n.*1173C>A)
c.403C>A (p.Pro135Thr)
c.454C>A (p.Pro152Thr)
 gnomAD v4
16g.88643487_88643488insACA2634848323CYBAc.369_370insT (p.Pro124SerfsTer?)
c.*670_*671insT (n.*670_*671insT)
c.*707_*708insT (n.*707_*708insT)
c.*376_*377insT (n.*376_*377insT)
c.480_481insT (p.Pro161SerfsTer?)
c.583_584insT (p.Ala195ValfsTer?)
c.*1172_*1173insT (n.*1172_*1173insT)
c.402_403insT (p.Pro135SerfsTer?)
c.453_454insT (p.Pro152SerfsTer?)
 gnomAD v4
16g.88643488C>ACA497362183CYBAc.369G>T (p.Pro123=)
c.*670G>T (n.*670G>T)
c.*707G>T (n.*707G>T)
c.*376G>T (n.*376G>T)
c.480G>T (p.Pro160=)
c.583G>T (p.Ala195Ser)
c.*1172G>T (n.*1172G>T)
c.402G>T (p.Pro134=)
c.453G>T (p.Pro151=)
 gnomAD v4
16g.88643488C=CA2241199684CYBAc.369G= (p.Pro123=)
c.*670G= (n.*670G=)
c.*707G= (n.*707G=)
c.*376G= (n.*376G=)
c.480G= (p.Pro160=)
c.583G= (p.Ala195=)
c.*1172G= (n.*1172G=)
c.402G= (p.Pro134=)
c.453G= (p.Pro151=)
16g.88643488C>GCA286348338CYBAc.369G>C (p.Pro123=)
c.*670G>C (n.*670G>C)
c.*707G>C (n.*707G>C)
c.*376G>C (n.*376G>C)
c.480G>C (p.Pro160=)
c.583G>C (p.Ala195Pro)
c.*1172G>C (n.*1172G>C)
c.402G>C (p.Pro134=)
c.453G>C (p.Pro151=)
 dbSNP
16g.88643488C>TCA497362184CYBAc.369G>A (p.Pro123=)
c.*670G>A (n.*670G>A)
c.*707G>A (n.*707G>A)
c.*376G>A (n.*376G>A)
c.480G>A (p.Pro160=)
c.583G>A (p.Ala195Thr)
c.*1172G>A (n.*1172G>A)
c.402G>A (p.Pro134=)
c.453G>A (p.Pro151=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643489G>ACA8228194CYBAc.368C>T (p.Pro123Leu)
c.*669C>T (n.*669C>T)
c.*706C>T (n.*706C>T)
c.*375C>T (n.*375C>T)
c.479C>T (p.Pro160Leu)
c.582C>T (p.Ala194=)
c.*1171C>T (n.*1171C>T)
c.401C>T (p.Pro134Leu)
c.452C>T (p.Pro151Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.88643489G>CCA397057250CYBAc.368C>G (p.Pro123Arg)
c.*669C>G (n.*669C>G)
c.*706C>G (n.*706C>G)
c.*375C>G (n.*375C>G)
c.479C>G (p.Pro160Arg)
c.582C>G (p.Ala194=)
c.*1171C>G (n.*1171C>G)
c.401C>G (p.Pro134Arg)
c.452C>G (p.Pro151Arg)
 gnomAD v4
16g.88643489G=CA2241199685CYBAc.368C= (p.Pro123=)
c.*669C= (n.*669C=)
c.*706C= (n.*706C=)
c.*375C= (n.*375C=)
c.479C= (p.Pro160=)
c.582C= (p.Ala194=)
c.*1171C= (n.*1171C=)
c.401C= (p.Pro134=)
c.452C= (p.Pro151=)
16g.88643489G>TCA397057261CYBAc.368C>A (p.Pro123Gln)
c.*669C>A (n.*669C>A)
c.*706C>A (n.*706C>A)
c.*375C>A (n.*375C>A)
c.479C>A (p.Pro160Gln)
c.582C>A (p.Ala194=)
c.*1171C>A (n.*1171C>A)
c.401C>A (p.Pro134Gln)
c.452C>A (p.Pro151Gln)
 gnomAD v4
16g.88643490G>ACA397057269CYBAc.367C>T (p.Pro123Ser)
c.*668C>T (n.*668C>T)
c.*705C>T (n.*705C>T)
c.*374C>T (n.*374C>T)
c.478C>T (p.Pro160Ser)
c.581C>T (p.Ala194Val)
c.*1170C>T (n.*1170C>T)
c.400C>T (p.Pro134Ser)
c.451C>T (p.Pro151Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88643490G>CCA397057273CYBAc.367C>G (p.Pro123Ala)
c.*668C>G (n.*668C>G)
c.*705C>G (n.*705C>G)
c.*374C>G (n.*374C>G)
c.478C>G (p.Pro160Ala)
c.581C>G (p.Ala194Gly)
c.*1170C>G (n.*1170C>G)
c.400C>G (p.Pro134Ala)
c.451C>G (p.Pro151Ala)
16g.88643490G=CA2241199686CYBAc.367C= (p.Pro123=)
c.*668C= (n.*668C=)
c.*705C= (n.*705C=)
c.*374C= (n.*374C=)
c.478C= (p.Pro160=)
c.581C= (p.Ala194=)
c.*1170C= (n.*1170C=)
c.400C= (p.Pro134=)
c.451C= (p.Pro151=)
16g.88643490G>TCA397057278CYBAc.367C>A (p.Pro123Thr)
c.*668C>A (n.*668C>A)
c.*705C>A (n.*705C>A)
c.*374C>A (n.*374C>A)
c.478C>A (p.Pro160Thr)
c.581C>A (p.Ala194Asp)
c.*1170C>A (n.*1170C>A)
c.400C>A (p.Pro134Thr)
c.451C>A (p.Pro151Thr)
 gnomAD v4
16g.88643491C>ACA397057279CYBAc.366G>T (p.Gln122His)
c.*667G>T (n.*667G>T)
c.*704G>T (n.*704G>T)
c.*373G>T (n.*373G>T)
c.477G>T (p.Gln159His)
c.580G>T (p.Ala194Ser)
c.*1169G>T (n.*1169G>T)
c.399G>T (p.Gln133His)
c.450G>T (p.Gln150His)
 gnomAD v4
16g.88643491C=CA2241199687CYBAc.366G= (p.Gln122=)
c.*667G= (n.*667G=)
c.*704G= (n.*704G=)
c.*373G= (n.*373G=)
c.477G= (p.Gln159=)
c.580G= (p.Ala194=)
c.*1169G= (n.*1169G=)
c.399G= (p.Gln133=)
c.450G= (p.Gln150=)
16g.88643491C>GCA397057281CYBAc.366G>C (p.Gln122His)
c.*667G>C (n.*667G>C)
c.*704G>C (n.*704G>C)
c.*373G>C (n.*373G>C)
c.477G>C (p.Gln159His)
c.580G>C (p.Ala194Pro)
c.*1169G>C (n.*1169G>C)
c.399G>C (p.Gln133His)
c.450G>C (p.Gln150His)
16g.88643491C>TCA286348350CYBAc.366G>A (p.Gln122=)
c.*667G>A (n.*667G>A)
c.*704G>A (n.*704G>A)
c.*373G>A (n.*373G>A)
c.477G>A (p.Gln159=)
c.580G>A (p.Ala194Thr)
c.*1169G>A (n.*1169G>A)
c.399G>A (p.Gln133=)
c.450G>A (p.Gln150=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643492T>ACA397057283CYBAc.365A>T (p.Gln122Leu)
c.*666A>T (n.*666A>T)
c.*703A>T (n.*703A>T)
c.*372A>T (n.*372A>T)
c.476A>T (p.Gln159Leu)
c.579A>T (p.Ala193=)
c.*1168A>T (n.*1168A>T)
c.398A>T (p.Gln133Leu)
c.449A>T (p.Gln150Leu)
16g.88643492T>CCA397057286CYBAc.365A>G (p.Gln122Arg)
c.*666A>G (n.*666A>G)
c.*703A>G (n.*703A>G)
c.*372A>G (n.*372A>G)
c.476A>G (p.Gln159Arg)
c.579A>G (p.Ala193=)
c.*1168A>G (n.*1168A>G)
c.398A>G (p.Gln133Arg)
c.449A>G (p.Gln150Arg)
16g.88643492T>GCA397057289CYBAc.365A>C (p.Gln122Pro)
c.*666A>C (n.*666A>C)
c.*703A>C (n.*703A>C)
c.*372A>C (n.*372A>C)
c.476A>C (p.Gln159Pro)
c.579A>C (p.Ala193=)
c.*1168A>C (n.*1168A>C)
c.398A>C (p.Gln133Pro)
c.449A>C (p.Gln150Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643492T=CA2241199688CYBAc.365A= (p.Gln122=)
c.*666A= (n.*666A=)
c.*703A= (n.*703A=)
c.*372A= (n.*372A=)
c.476A= (p.Gln159=)
c.579A= (p.Ala193=)
c.*1168A= (n.*1168A=)
c.398A= (p.Gln133=)
c.449A= (p.Gln150=)
16g.88643493G>ACA397057300CYBAc.364C>T (p.Gln122Ter)
c.*665C>T (n.*665C>T)
c.*702C>T (n.*702C>T)
c.*371C>T (n.*371C>T)
c.475C>T (p.Gln159Ter)
c.578C>T (p.Ala193Val)
c.*1167C>T (n.*1167C>T)
c.397C>T (p.Gln133Ter)
c.448C>T (p.Gln150Ter)
 gnomAD v4
16g.88643493G>CCA397057317CYBAc.364C>G (p.Gln122Glu)
c.*665C>G (n.*665C>G)
c.*702C>G (n.*702C>G)
c.*371C>G (n.*371C>G)
c.475C>G (p.Gln159Glu)
c.578C>G (p.Ala193Gly)
c.*1167C>G (n.*1167C>G)
c.397C>G (p.Gln133Glu)
c.448C>G (p.Gln150Glu)
 ClinVar dbSNP
16g.88643493G=CA2241199689CYBAc.364C= (p.Gln122=)
c.*665C= (n.*665C=)
c.*702C= (n.*702C=)
c.*371C= (n.*371C=)
c.475C= (p.Gln159=)
c.578C= (p.Ala193=)
c.*1167C= (n.*1167C=)
c.397C= (p.Gln133=)
c.448C= (p.Gln150=)
16g.88643493G>TCA397057323CYBAc.364C>A (p.Gln122Lys)
c.*665C>A (n.*665C>A)
c.*702C>A (n.*702C>A)
c.*371C>A (n.*371C>A)
c.475C>A (p.Gln159Lys)
c.578C>A (p.Ala193Glu)
c.*1167C>A (n.*1167C>A)
c.397C>A (p.Gln133Lys)
c.448C>A (p.Gln150Lys)
 gnomAD v4
16g.88643494C>ACA397057331CYBAc.363G>T (p.Lys121Asn)
c.*664G>T (n.*664G>T)
c.*701G>T (n.*701G>T)
c.*370G>T (n.*370G>T)
c.474G>T (p.Lys158Asn)
c.577G>T (p.Ala193Ser)
c.*1166G>T (n.*1166G>T)
c.396G>T (p.Lys132Asn)
c.447G>T (p.Lys149Asn)
 gnomAD v4
16g.88643494C>GCA397057335CYBAc.363G>C (p.Lys121Asn)
c.*664G>C (n.*664G>C)
c.*701G>C (n.*701G>C)
c.*370G>C (n.*370G>C)
c.474G>C (p.Lys158Asn)
c.577G>C (p.Ala193Pro)
c.*1166G>C (n.*1166G>C)
c.396G>C (p.Lys132Asn)
c.447G>C (p.Lys149Asn)
16g.88643494C>TCA497362189CYBAc.363G>A (p.Lys121=)
c.*664G>A (n.*664G>A)
c.*701G>A (n.*701G>A)
c.*370G>A (n.*370G>A)
c.474G>A (p.Lys158=)
c.577G>A (p.Ala193Thr)
c.*1166G>A (n.*1166G>A)
c.396G>A (p.Lys132=)
c.447G>A (p.Lys149=)
 gnomAD v4
16g.88643495T>ACA397057336CYBAc.362A>T (p.Lys121Met)
c.*663A>T (n.*663A>T)
c.*700A>T (n.*700A>T)
c.*369A>T (n.*369A>T)
c.473A>T (p.Lys158Met)
c.576A>T (p.Gln192His)
c.*1165A>T (n.*1165A>T)
c.395A>T (p.Lys132Met)
c.446A>T (p.Lys149Met)
16g.88643495T>CCA397057337CYBAc.362A>G (p.Lys121Arg)
c.*663A>G (n.*663A>G)
c.*700A>G (n.*700A>G)
c.*369A>G (n.*369A>G)
c.473A>G (p.Lys158Arg)
c.576A>G (p.Gln192=)
c.*1165A>G (n.*1165A>G)
c.395A>G (p.Lys132Arg)
c.446A>G (p.Lys149Arg)
 gnomAD v4
16g.88643495T>GCA397057340CYBAc.362A>C (p.Lys121Thr)
c.*663A>C (n.*663A>C)
c.*700A>C (n.*700A>C)
c.*369A>C (n.*369A>C)
c.473A>C (p.Lys158Thr)
c.576A>C (p.Gln192His)
c.*1165A>C (n.*1165A>C)
c.395A>C (p.Lys132Thr)
c.446A>C (p.Lys149Thr)
16g.88643496T>ACA397057343CYBAc.361A>T (p.Lys121Ter)
c.*662A>T (n.*662A>T)
c.*699A>T (n.*699A>T)
c.*368A>T (n.*368A>T)
c.472A>T (p.Lys158Ter)
c.575A>T (p.Gln192Leu)
c.*1164A>T (n.*1164A>T)
c.394A>T (p.Lys132Ter)
c.445A>T (p.Lys149Ter)
16g.88643496T>CCA397057345CYBAc.361A>G (p.Lys121Glu)
c.*662A>G (n.*662A>G)
c.*699A>G (n.*699A>G)
c.*368A>G (n.*368A>G)
c.472A>G (p.Lys158Glu)
c.575A>G (p.Gln192Arg)
c.*1164A>G (n.*1164A>G)
c.394A>G (p.Lys132Glu)
c.445A>G (p.Lys149Glu)
 gnomAD v4
16g.88643496T>GCA397057347CYBAc.361A>C (p.Lys121Gln)
c.*662A>C (n.*662A>C)
c.*699A>C (n.*699A>C)
c.*368A>C (n.*368A>C)
c.472A>C (p.Lys158Gln)
c.575A>C (p.Gln192Pro)
c.*1164A>C (n.*1164A>C)
c.394A>C (p.Lys132Gln)
c.445A>C (p.Lys149Gln)
16g.88643497G>ACA497362192CYBAc.360C>T (p.Ile120=)
c.*661C>T (n.*661C>T)
c.*698C>T (n.*698C>T)
c.*367C>T (n.*367C>T)
c.471C>T (p.Ile157=)
c.574C>T (p.Gln192Ter)
c.*1163C>T (n.*1163C>T)
c.393C>T (p.Ile131=)
c.444C>T (p.Ile148=)
 ClinVar dbSNP gnomAD v4
16g.88643497G>CCA397057351CYBAc.360C>G (p.Ile120Met)
c.*661C>G (n.*661C>G)
c.*698C>G (n.*698C>G)
c.*367C>G (n.*367C>G)
c.471C>G (p.Ile157Met)
c.574C>G (p.Gln192Glu)
c.*1163C>G (n.*1163C>G)
c.393C>G (p.Ile131Met)
c.444C>G (p.Ile148Met)
16g.88643497G>TCA497362191CYBAc.360C>A (p.Ile120=)
c.*661C>A (n.*661C>A)
c.*698C>A (n.*698C>A)
c.*367C>A (n.*367C>A)
c.471C>A (p.Ile157=)
c.574C>A (p.Gln192Lys)
c.*1163C>A (n.*1163C>A)
c.393C>A (p.Ile131=)
c.444C>A (p.Ile148=)
 gnomAD v4
16g.88643498A>CCA397057355CYBAc.359T>G (p.Ile120Ser)
c.*660T>G (n.*660T>G)
c.*697T>G (n.*697T>G)
c.*366T>G (n.*366T>G)
c.470T>G (p.Ile157Ser)
c.573T>G (p.His191Gln)
c.*1162T>G (n.*1162T>G)
c.392T>G (p.Ile131Ser)
c.443T>G (p.Ile148Ser)
 gnomAD v4
16g.88643498A>GCA397057363CYBAc.359T>C (p.Ile120Thr)
c.*660T>C (n.*660T>C)
c.*697T>C (n.*697T>C)
c.*366T>C (n.*366T>C)
c.470T>C (p.Ile157Thr)
c.573T>C (p.His191=)
c.*1162T>C (n.*1162T>C)
c.392T>C (p.Ile131Thr)
c.443T>C (p.Ile148Thr)
16g.88643498A>TCA397057369CYBAc.359T>A (p.Ile120Asn)
c.*660T>A (n.*660T>A)
c.*697T>A (n.*697T>A)
c.*366T>A (n.*366T>A)
c.470T>A (p.Ile157Asn)
c.573T>A (p.His191Gln)
c.*1162T>A (n.*1162T>A)
c.392T>A (p.Ile131Asn)
c.443T>A (p.Ile148Asn)
16g.88643499T>ACA397057374CYBAc.358A>T (p.Ile120Phe)
c.*659A>T (n.*659A>T)
c.*696A>T (n.*696A>T)
c.*365A>T (n.*365A>T)
c.469A>T (p.Ile157Phe)
c.572A>T (p.His191Leu)
c.*1161A>T (n.*1161A>T)
c.391A>T (p.Ile131Phe)
c.442A>T (p.Ile148Phe)
 gnomAD v4
16g.88643499T>CCA397057377CYBAc.358A>G (p.Ile120Val)
c.*659A>G (n.*659A>G)
c.*696A>G (n.*696A>G)
c.*365A>G (n.*365A>G)
c.469A>G (p.Ile157Val)
c.572A>G (p.His191Arg)
c.*1161A>G (n.*1161A>G)
c.391A>G (p.Ile131Val)
c.442A>G (p.Ile148Val)
 gnomAD v4
16g.88643499T>GCA397057380CYBAc.358A>C (p.Ile120Leu)
c.*659A>C (n.*659A>C)
c.*696A>C (n.*696A>C)
c.*365A>C (n.*365A>C)
c.469A>C (p.Ile157Leu)
c.572A>C (p.His191Pro)
c.*1161A>C (n.*1161A>C)
c.391A>C (p.Ile131Leu)
c.442A>C (p.Ile148Leu)
 gnomAD v4
16g.88643500G>ACA497362194CYBAc.357C>T (p.Thr119=)
c.*658C>T (n.*658C>T)
c.*695C>T (n.*695C>T)
c.*364C>T (n.*364C>T)
c.468C>T (p.Thr156=)
c.571C>T (p.His191Tyr)
c.*1160C>T (n.*1160C>T)
c.390C>T (p.Thr130=)
c.441C>T (p.Thr147=)
 gnomAD v4
16g.88643500G>CCA497362195CYBAc.357C>G (p.Thr119=)
c.*658C>G (n.*658C>G)
c.*695C>G (n.*695C>G)
c.*364C>G (n.*364C>G)
c.468C>G (p.Thr156=)
c.571C>G (p.His191Asp)
c.*1160C>G (n.*1160C>G)
c.390C>G (p.Thr130=)
c.441C>G (p.Thr147=)
16g.88643500G>TCA497362196CYBAc.357C>A (p.Thr119=)
c.*658C>A (n.*658C>A)
c.*695C>A (n.*695C>A)
c.*364C>A (n.*364C>A)
c.468C>A (p.Thr156=)
c.571C>A (p.His191Asn)
c.*1160C>A (n.*1160C>A)
c.390C>A (p.Thr130=)
c.441C>A (p.Thr147=)
 gnomAD v4
16g.88643501G>ACA397057393CYBAc.356C>T (p.Thr119Ile)
c.*657C>T (n.*657C>T)
c.*694C>T (n.*694C>T)
c.*363C>T (n.*363C>T)
c.467C>T (p.Thr156Ile)
c.570C>T (p.His190=)
c.*1159C>T (n.*1159C>T)
c.389C>T (p.Thr130Ile)
c.440C>T (p.Thr147Ile)
 gnomAD v4
16g.88643501G>CCA8228195CYBAc.356C>G (p.Thr119Ser)
c.*657C>G (n.*657C>G)
c.*694C>G (n.*694C>G)
c.*363C>G (n.*363C>G)
c.467C>G (p.Thr156Ser)
c.570C>G (p.His190Gln)
c.*1159C>G (n.*1159C>G)
c.389C>G (p.Thr130Ser)
c.440C>G (p.Thr147Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.88643501G=CA2241199690CYBAc.356C= (p.Thr119=)
c.*657C= (n.*657C=)
c.*694C= (n.*694C=)
c.*363C= (n.*363C=)
c.467C= (p.Thr156=)
c.570C= (p.His190=)
c.*1159C= (n.*1159C=)
c.389C= (p.Thr130=)
c.440C= (p.Thr147=)
16g.88643501G>TCA397057389CYBAc.356C>A (p.Thr119Asn)
c.*657C>A (n.*657C>A)
c.*694C>A (n.*694C>A)
c.*363C>A (n.*363C>A)
c.467C>A (p.Thr156Asn)
c.570C>A (p.His190Gln)
c.*1159C>A (n.*1159C>A)
c.389C>A (p.Thr130Asn)
c.440C>A (p.Thr147Asn)
 gnomAD v4
16g.88643502T>ACA397057396CYBAc.355A>T (p.Thr119Ser)
c.*656A>T (n.*656A>T)
c.*693A>T (n.*693A>T)
c.*362A>T (n.*362A>T)
c.466A>T (p.Thr156Ser)
c.569A>T (p.His190Leu)
c.*1158A>T (n.*1158A>T)
c.388A>T (p.Thr130Ser)
c.439A>T (p.Thr147Ser)
16g.88643502T>CCA397057400CYBAc.355A>G (p.Thr119Ala)
c.*656A>G (n.*656A>G)
c.*693A>G (n.*693A>G)
c.*362A>G (n.*362A>G)
c.466A>G (p.Thr156Ala)
c.569A>G (p.His190Arg)
c.*1158A>G (n.*1158A>G)
c.388A>G (p.Thr130Ala)
c.439A>G (p.Thr147Ala)
 gnomAD v4
16g.88643502T>GCA397057404CYBAc.355A>C (p.Thr119Pro)
c.*656A>C (n.*656A>C)
c.*693A>C (n.*693A>C)
c.*362A>C (n.*362A>C)
c.466A>C (p.Thr156Pro)
c.569A>C (p.His190Pro)
c.*1158A>C (n.*1158A>C)
c.388A>C (p.Thr130Pro)
c.439A>C (p.Thr147Pro)
16g.88643503G>ACA497362197CYBAc.354C>T (p.Gly118=)
c.*655C>T (n.*655C>T)
c.*692C>T (n.*692C>T)
c.*361C>T (n.*361C>T)
c.465C>T (p.Gly155=)
c.568C>T (p.His190Tyr)
c.*1157C>T (n.*1157C>T)
c.387C>T (p.Gly129=)
c.438C>T (p.Gly146=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643503G>CCA497362200CYBAc.354C>G (p.Gly118=)
c.*655C>G (n.*655C>G)
c.*692C>G (n.*692C>G)
c.*361C>G (n.*361C>G)
c.465C>G (p.Gly155=)
c.568C>G (p.His190Asp)
c.*1157C>G (n.*1157C>G)
c.387C>G (p.Gly129=)
c.438C>G (p.Gly146=)
 gnomAD v4
16g.88643503G=CA2241199691CYBAc.354C= (p.Gly118=)
c.*655C= (n.*655C=)
c.*692C= (n.*692C=)
c.*361C= (n.*361C=)
c.465C= (p.Gly155=)
c.568C= (p.His190=)
c.*1157C= (n.*1157C=)
c.387C= (p.Gly129=)
c.438C= (p.Gly146=)
16g.88643503G>TCA497362198CYBAc.354C>A (p.Gly118=)
c.*655C>A (n.*655C>A)
c.*692C>A (n.*692C>A)
c.*361C>A (n.*361C>A)
c.465C>A (p.Gly155=)
c.568C>A (p.His190Asn)
c.*1157C>A (n.*1157C>A)
c.387C>A (p.Gly129=)
c.438C>A (p.Gly146=)
 gnomAD v4
16g.88643504C>ACA397057413CYBAc.353G>T (p.Gly118Val)
c.*654G>T (n.*654G>T)
c.*691G>T (n.*691G>T)
c.*360G>T (n.*360G>T)
c.464G>T (p.Gly155Val)
c.567G>T (p.Arg189Ser)
c.*1156G>T (n.*1156G>T)
c.386G>T (p.Gly129Val)
c.437G>T (p.Gly146Val)
 gnomAD v4
16g.88643504C=CA2241199692CYBAc.353G= (p.Gly118=)
c.*654G= (n.*654G=)
c.*691G= (n.*691G=)
c.*360G= (n.*360G=)
c.464G= (p.Gly155=)
c.567G= (p.Arg189=)
c.*1156G= (n.*1156G=)
c.386G= (p.Gly129=)
c.437G= (p.Gly146=)
16g.88643504C>GCA397057418CYBAc.353G>C (p.Gly118Ala)
c.*654G>C (n.*654G>C)
c.*691G>C (n.*691G>C)
c.*360G>C (n.*360G>C)
c.464G>C (p.Gly155Ala)
c.567G>C (p.Arg189Ser)
c.*1156G>C (n.*1156G>C)
c.386G>C (p.Gly129Ala)
c.437G>C (p.Gly146Ala)
 gnomAD v4
16g.88643504C>TCA397057423CYBAc.353G>A (p.Gly118Asp)
c.*654G>A (n.*654G>A)
c.*691G>A (n.*691G>A)
c.*360G>A (n.*360G>A)
c.464G>A (p.Gly155Asp)
c.567G>A (p.Arg189=)
c.*1156G>A (n.*1156G>A)
c.386G>A (p.Gly129Asp)
c.437G>A (p.Gly146Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643505_88643512delCA2634848359CYBAc.346_353del (p.Ile116HisfsTer?)
c.*647_*654del (n.*647_*654del)
c.*684_*691del (n.*684_*691del)
c.*353_*360del (n.*353_*360del)
c.457_464del (p.Ile153HisfsTer?)
c.560_567del (p.Asp187AlafsTer?)
c.*1149_*1156del (n.*1149_*1156del)
c.379_386del (p.Ile127HisfsTer?)
c.430_437del (p.Ile144HisfsTer?)
 gnomAD v4
16g.88643505C>ACA397057428CYBAc.352G>T (p.Gly118Cys)
c.*653G>T (n.*653G>T)
c.*690G>T (n.*690G>T)
c.*359G>T (n.*359G>T)
c.463G>T (p.Gly155Cys)
c.566G>T (p.Arg189Met)
c.*1155G>T (n.*1155G>T)
c.385G>T (p.Gly129Cys)
c.436G>T (p.Gly146Cys)
 gnomAD v4
16g.88643505C=CA2241199693CYBAc.352G= (p.Gly118=)
c.*653G= (n.*653G=)
c.*690G= (n.*690G=)
c.*359G= (n.*359G=)
c.463G= (p.Gly155=)
c.566G= (p.Arg189=)
c.*1155G= (n.*1155G=)
c.385G= (p.Gly129=)
c.436G= (p.Gly146=)
16g.88643505C>GCA397057434CYBAc.352G>C (p.Gly118Arg)
c.*653G>C (n.*653G>C)
c.*690G>C (n.*690G>C)
c.*359G>C (n.*359G>C)
c.463G>C (p.Gly155Arg)
c.566G>C (p.Arg189Thr)
c.*1155G>C (n.*1155G>C)
c.385G>C (p.Gly129Arg)
c.436G>C (p.Gly146Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.88643505C>TCA397057437CYBAc.352G>A (p.Gly118Ser)
c.*653G>A (n.*653G>A)
c.*690G>A (n.*690G>A)
c.*359G>A (n.*359G>A)
c.463G>A (p.Gly155Ser)
c.566G>A (p.Arg189Lys)
c.*1155G>A (n.*1155G>A)
c.385G>A (p.Gly129Ser)
c.436G>A (p.Gly146Ser)
 dbSNP gnomAD v2 gnomAD v4
16g.88643506T>ACA497362203CYBAc.351A>T (p.Gly117=)
c.*652A>T (n.*652A>T)
c.*689A>T (n.*689A>T)
c.*358A>T (n.*358A>T)
c.462A>T (p.Gly154=)
c.565A>T (p.Arg189Trp)
c.*1154A>T (n.*1154A>T)
c.384A>T (p.Gly128=)
c.435A>T (p.Gly145=)
 gnomAD v4
16g.88643506T>CCA497362204CYBAc.351A>G (p.Gly117=)
c.*652A>G (n.*652A>G)
c.*689A>G (n.*689A>G)
c.*358A>G (n.*358A>G)
c.462A>G (p.Gly154=)
c.565A>G (p.Arg189Gly)
c.*1154A>G (n.*1154A>G)
c.384A>G (p.Gly128=)
c.435A>G (p.Gly145=)
 gnomAD v4
16g.88643506T>GCA497362206CYBAc.351A>C (p.Gly117=)
c.*652A>C (n.*652A>C)
c.*689A>C (n.*689A>C)
c.*358A>C (n.*358A>C)
c.462A>C (p.Gly154=)
c.565A>C (p.Arg189=)
c.*1154A>C (n.*1154A>C)
c.384A>C (p.Gly128=)
c.435A>C (p.Gly145=)
16g.88643507C>ACA397057438CYBAc.350G>T (p.Gly117Val)
c.*651G>T (n.*651G>T)
c.*688G>T (n.*688G>T)
c.*357G>T (n.*357G>T)
c.461G>T (p.Gly154Val)
c.564G>T (p.Arg188=)
c.*1153G>T (n.*1153G>T)
c.383G>T (p.Gly128Val)
c.434G>T (p.Gly145Val)
 gnomAD v4
16g.88643507C=CA2241199694CYBAc.350G= (p.Gly117=)
c.*651G= (n.*651G=)
c.*688G= (n.*688G=)
c.*357G= (n.*357G=)
c.461G= (p.Gly154=)
c.564G= (p.Arg188=)
c.*1153G= (n.*1153G=)
c.383G= (p.Gly128=)
c.434G= (p.Gly145=)
16g.88643507C>GCA397057457CYBAc.350G>C (p.Gly117Ala)
c.*651G>C (n.*651G>C)
c.*688G>C (n.*688G>C)
c.*357G>C (n.*357G>C)
c.461G>C (p.Gly154Ala)
c.564G>C (p.Arg188=)
c.*1153G>C (n.*1153G>C)
c.383G>C (p.Gly128Ala)
c.434G>C (p.Gly145Ala)
16g.88643507C>TCA397057462CYBAc.350G>A (p.Gly117Glu)
c.*651G>A (n.*651G>A)
c.*688G>A (n.*688G>A)
c.*357G>A (n.*357G>A)
c.461G>A (p.Gly154Glu)
c.564G>A (p.Arg188=)
c.*1153G>A (n.*1153G>A)
c.383G>A (p.Gly128Glu)
c.434G>A (p.Gly145Glu)
 dbSNP gnomAD v3 gnomAD v4
16g.88643508C>ACA397057486CYBAc.349G>T (p.Gly117Ter)
c.*650G>T (n.*650G>T)
c.*687G>T (n.*687G>T)
c.*356G>T (n.*356G>T)
c.460G>T (p.Gly154Ter)
c.563G>T (p.Arg188Leu)
c.*1152G>T (n.*1152G>T)
c.382G>T (p.Gly128Ter)
c.433G>T (p.Gly145Ter)
 gnomAD v4
16g.88643508C=CA2241199695CYBAc.349G= (p.Gly117=)
c.*650G= (n.*650G=)
c.*687G= (n.*687G=)
c.*356G= (n.*356G=)
c.460G= (p.Gly154=)
c.563G= (p.Arg188=)
c.*1152G= (n.*1152G=)
c.382G= (p.Gly128=)
c.433G= (p.Gly145=)
16g.88643508C>GCA397057484CYBAc.349G>C (p.Gly117Arg)
c.*650G>C (n.*650G>C)
c.*687G>C (n.*687G>C)
c.*356G>C (n.*356G>C)
c.460G>C (p.Gly154Arg)
c.563G>C (p.Arg188Pro)
c.*1152G>C (n.*1152G>C)
c.382G>C (p.Gly128Arg)
c.433G>C (p.Gly145Arg)
16g.88643508C>TCA8228196CYBAc.349G>A (p.Gly117Arg)
c.*650G>A (n.*650G>A)
c.*687G>A (n.*687G>A)
c.*356G>A (n.*356G>A)
c.460G>A (p.Gly154Arg)
c.563G>A (p.Arg188Gln)
c.*1152G>A (n.*1152G>A)
c.382G>A (p.Gly128Arg)
c.433G>A (p.Gly145Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643510_88643557dupCA658658511CYBAc.302_349dup (p.Ile116_Gly117insGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIle)
c.*603_*650dup (n.*603_*650dup)
c.*640_*687dup (n.*640_*687dup)
c.*309_*356dup (n.*309_*356dup)
c.413_460dup (p.Ile153_Gly154insGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIle)
c.516_563dup (p.Arg188_Arg189insAlaValAspAlaHisArgAlaGlnAlaProGlyAlaAlaAlaAspArg)
c.*1105_*1152dup (n.*1105_*1152dup)
c.335_382dup (p.Ile127_Gly128insGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIle)
c.386_433dup (p.Ile144_Gly145insGluGlnTrpThrProIleGluProLysProArgGluArgProGlnIle)
 ClinVar dbSNP
16g.88643509G>ACA8228197CYBAc.348C>T (p.Ile116=)
c.*649C>T (n.*649C>T)
c.*686C>T (n.*686C>T)
c.*355C>T (n.*355C>T)
c.459C>T (p.Ile153=)
c.562C>T (p.Arg188Trp)
c.*1151C>T (n.*1151C>T)
c.381C>T (p.Ile127=)
c.432C>T (p.Ile144=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643509G>CCA397057503CYBAc.348C>G (p.Ile116Met)
c.*649C>G (n.*649C>G)
c.*686C>G (n.*686C>G)
c.*355C>G (n.*355C>G)
c.459C>G (p.Ile153Met)
c.562C>G (p.Arg188Gly)
c.*1151C>G (n.*1151C>G)
c.381C>G (p.Ile127Met)
c.432C>G (p.Ile144Met)
16g.88643509G=CA2241199696CYBAc.348C= (p.Ile116=)
c.*649C= (n.*649C=)
c.*686C= (n.*686C=)
c.*355C= (n.*355C=)
c.459C= (p.Ile153=)
c.562C= (p.Arg188=)
c.*1151C= (n.*1151C=)
c.381C= (p.Ile127=)
c.432C= (p.Ile144=)
16g.88643509G>TCA497362209CYBAc.348C>A (p.Ile116=)
c.*649C>A (n.*649C>A)
c.*686C>A (n.*686C>A)
c.*355C>A (n.*355C>A)
c.459C>A (p.Ile153=)
c.562C>A (p.Arg188=)
c.*1151C>A (n.*1151C>A)
c.381C>A (p.Ile127=)
c.432C>A (p.Ile144=)
 gnomAD v4
16g.88643510A>CCA397057508CYBAc.347T>G (p.Ile116Ser)
c.*648T>G (n.*648T>G)
c.*685T>G (n.*685T>G)
c.*354T>G (n.*354T>G)
c.458T>G (p.Ile153Ser)
c.561T>G (p.Asp187Glu)
c.*1150T>G (n.*1150T>G)
c.380T>G (p.Ile127Ser)
c.431T>G (p.Ile144Ser)
16g.88643510A>GCA397057511CYBAc.347T>C (p.Ile116Thr)
c.*648T>C (n.*648T>C)
c.*685T>C (n.*685T>C)
c.*354T>C (n.*354T>C)
c.458T>C (p.Ile153Thr)
c.561T>C (p.Asp187=)
c.*1150T>C (n.*1150T>C)
c.380T>C (p.Ile127Thr)
c.431T>C (p.Ile144Thr)
16g.88643510A>TCA397057524CYBAc.347T>A (p.Ile116Asn)
c.*648T>A (n.*648T>A)
c.*685T>A (n.*685T>A)
c.*354T>A (n.*354T>A)
c.458T>A (p.Ile153Asn)
c.561T>A (p.Asp187Glu)
c.*1150T>A (n.*1150T>A)
c.380T>A (p.Ile127Asn)
c.431T>A (p.Ile144Asn)
16g.88643510_88643524delinsATCTGCGGCCGCTCCCA2241199697CYBAc.333_347delinsGGAGCGGCCGCAGAT (p.Arg111=)
c.*634_*648delinsGGAGCGGCCGCAGAT (n.*634_*648delinsGGAGCGGCCGCAGAT)
c.*671_*685delinsGGAGCGGCCGCAGAT (n.*671_*685delinsGGAGCGGCCGCAGAT)
c.*340_*354delinsGGAGCGGCCGCAGAT (n.*340_*354delinsGGAGCGGCCGCAGAT)
c.444_458delinsGGAGCGGCCGCAGAT (p.Arg148=)
c.547_561delinsGGAGCGGCCGCAGAT (p.Gly183=)
c.*1136_*1150delinsGGAGCGGCCGCAGAT (n.*1136_*1150delinsGGAGCGGCCGCAGAT)
c.366_380delinsGGAGCGGCCGCAGAT (p.Arg122=)
c.417_431delinsGGAGCGGCCGCAGAT (p.Arg139=)
16g.88643511T>ACA397057531CYBAc.346A>T (p.Ile116Phe)
c.*647A>T (n.*647A>T)
c.*684A>T (n.*684A>T)
c.*353A>T (n.*353A>T)
c.457A>T (p.Ile153Phe)
c.560A>T (p.Asp187Val)
c.*1149A>T (n.*1149A>T)
c.379A>T (p.Ile127Phe)
c.430A>T (p.Ile144Phe)
16g.88643511T>CCA397057534CYBAc.346A>G (p.Ile116Val)
c.*647A>G (n.*647A>G)
c.*684A>G (n.*684A>G)
c.*353A>G (n.*353A>G)
c.457A>G (p.Ile153Val)
c.560A>G (p.Asp187Gly)
c.*1149A>G (n.*1149A>G)
c.379A>G (p.Ile127Val)
c.430A>G (p.Ile144Val)
16g.88643511T>GCA397057538CYBAc.346A>C (p.Ile116Leu)
c.*647A>C (n.*647A>C)
c.*684A>C (n.*684A>C)
c.*353A>C (n.*353A>C)
c.457A>C (p.Ile153Leu)
c.560A>C (p.Asp187Ala)
c.*1149A>C (n.*1149A>C)
c.379A>C (p.Ile127Leu)
c.430A>C (p.Ile144Leu)
16g.88643511_88643524delCA624448081CYBAc.333_346del (p.Glu112ArgfsTer?)
c.*634_*647del (n.*634_*647del)
c.*671_*684del (n.*671_*684del)
c.*340_*353del (n.*340_*353del)
c.444_457del (p.Glu149ArgfsTer?)
c.547_560del (p.Gly183SerfsTer?)
c.*1136_*1149del (n.*1136_*1149del)
c.366_379del (p.Glu123ArgfsTer?)
c.417_430del (p.Glu140ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
16g.88643512C>ACA397057542CYBAc.345G>T (p.Gln115His)
c.*646G>T (n.*646G>T)
c.*683G>T (n.*683G>T)
c.*352G>T (n.*352G>T)
c.456G>T (p.Gln152His)
c.559G>T (p.Asp187Tyr)
c.*1148G>T (n.*1148G>T)
c.378G>T (p.Gln126His)
c.429G>T (p.Gln143His)
 gnomAD v4
16g.88643512C=CA2241199698CYBAc.345G= (p.Gln115=)
c.*646G= (n.*646G=)
c.*683G= (n.*683G=)
c.*352G= (n.*352G=)
c.456G= (p.Gln152=)
c.559G= (p.Asp187=)
c.*1148G= (n.*1148G=)
c.378G= (p.Gln126=)
c.429G= (p.Gln143=)
16g.88643512C>GCA397057544CYBAc.345G>C (p.Gln115His)
c.*646G>C (n.*646G>C)
c.*683G>C (n.*683G>C)
c.*352G>C (n.*352G>C)
c.456G>C (p.Gln152His)
c.559G>C (p.Asp187His)
c.*1148G>C (n.*1148G>C)
c.378G>C (p.Gln126His)
c.429G>C (p.Gln143His)
16g.88643512C>TCA286348358CYBAc.345G>A (p.Gln115=)
c.*646G>A (n.*646G>A)
c.*683G>A (n.*683G>A)
c.*352G>A (n.*352G>A)
c.456G>A (p.Gln152=)
c.559G>A (p.Asp187Asn)
c.*1148G>A (n.*1148G>A)
c.378G>A (p.Gln126=)
c.429G>A (p.Gln143=)
 dbSNP gnomAD v4
16g.88643513T>ACA397057552CYBAc.344A>T (p.Gln115Leu)
c.*645A>T (n.*645A>T)
c.*682A>T (n.*682A>T)
c.*351A>T (n.*351A>T)
c.455A>T (p.Gln152Leu)
c.558A>T (p.Ala186=)
c.*1147A>T (n.*1147A>T)
c.377A>T (p.Gln126Leu)
c.428A>T (p.Gln143Leu)
 gnomAD v4
16g.88643513T>CCA397057554CYBAc.344A>G (p.Gln115Arg)
c.*645A>G (n.*645A>G)
c.*682A>G (n.*682A>G)
c.*351A>G (n.*351A>G)
c.455A>G (p.Gln152Arg)
c.558A>G (p.Ala186=)
c.*1147A>G (n.*1147A>G)
c.377A>G (p.Gln126Arg)
c.428A>G (p.Gln143Arg)
 dbSNP gnomAD v4
16g.88643513T>GCA397057561CYBAc.344A>C (p.Gln115Pro)
c.*645A>C (n.*645A>C)
c.*682A>C (n.*682A>C)
c.*351A>C (n.*351A>C)
c.455A>C (p.Gln152Pro)
c.558A>C (p.Ala186=)
c.*1147A>C (n.*1147A>C)
c.377A>C (p.Gln126Pro)
c.428A>C (p.Gln143Pro)
16g.88643513T=CA2241199699CYBAc.344A= (p.Gln115=)
c.*645A= (n.*645A=)
c.*682A= (n.*682A=)
c.*351A= (n.*351A=)
c.455A= (p.Gln152=)
c.558A= (p.Ala186=)
c.*1147A= (n.*1147A=)
c.377A= (p.Gln126=)
c.428A= (p.Gln143=)
16g.88643513_88643519delinsTGCGGCCCA2241199700CYBAc.338_344delinsGGCCGCA (p.Arg113=)
c.*639_*645delinsGGCCGCA (n.*639_*645delinsGGCCGCA)
c.*676_*682delinsGGCCGCA (n.*676_*682delinsGGCCGCA)
c.*345_*351delinsGGCCGCA (n.*345_*351delinsGGCCGCA)
c.449_455delinsGGCCGCA (p.Arg150=)
c.552_558delinsGGCCGCA (p.Ala184=)
c.*1141_*1147delinsGGCCGCA (n.*1141_*1147delinsGGCCGCA)
c.371_377delinsGGCCGCA (p.Arg124=)
c.422_428delinsGGCCGCA (p.Arg141=)
16g.88643514G>ACA397057571CYBAc.437C>T
c.343C>T (p.Gln115Ter)
c.*644C>T (n.*644C>T)
c.*681C>T (n.*681C>T)
c.*350C>T (n.*350C>T)
c.454C>T (p.Gln152Ter)
c.557C>T (p.Ala186Val)
c.*1146C>T (n.*1146C>T)
c.376C>T (p.Gln126Ter)
c.427C>T (p.Gln143Ter)
c.221C>T
n.1006C>T
16g.88643514G>CCA397057575CYBAc.437C>G
c.343C>G (p.Gln115Glu)
c.*644C>G (n.*644C>G)
c.*681C>G (n.*681C>G)
c.*350C>G (n.*350C>G)
c.454C>G (p.Gln152Glu)
c.557C>G (p.Ala186Gly)
c.*1146C>G (n.*1146C>G)
c.376C>G (p.Gln126Glu)
c.427C>G (p.Gln143Glu)
c.221C>G
n.1006C>G
16g.88643514G=CA2241199701CYBAc.437C=
c.343C= (p.Gln115=)
c.*644C= (n.*644C=)
c.*681C= (n.*681C=)
c.*350C= (n.*350C=)
c.454C= (p.Gln152=)
c.557C= (p.Ala186=)
c.*1146C= (n.*1146C=)
c.376C= (p.Gln126=)
c.427C= (p.Gln143=)
c.221C=
n.1006C=
16g.88643514G>TCA397057569CYBAc.437C>A
c.343C>A (p.Gln115Lys)
c.*644C>A (n.*644C>A)
c.*681C>A (n.*681C>A)
c.*350C>A (n.*350C>A)
c.454C>A (p.Gln152Lys)
c.557C>A (p.Ala186Glu)
c.*1146C>A (n.*1146C>A)
c.376C>A (p.Gln126Lys)
c.427C>A (p.Gln143Lys)
c.221C>A
n.1006C>A
 dbSNP gnomAD v2 gnomAD v4
16g.88643514_88643515insGGCA2634848394CYBAc.343_344insCC (p.Gln115ProfsTer?)
c.*644_*645insCC (n.*644_*645insCC)
c.*681_*682insCC (n.*681_*682insCC)
c.*350_*351insCC (n.*350_*351insCC)
c.454_455insCC (p.Gln152ProfsTer?)
c.557_558insCC (p.Asp187GlnfsTer?)
c.*1146_*1147insCC (n.*1146_*1147insCC)
c.376_377insCC (p.Gln126ProfsTer?)
c.427_428insCC (p.Gln143ProfsTer?)
 gnomAD v4
16g.88643516_88643521delCA1139664861CYBAc.432_437del (p.Ala144_Ala145del)
c.338_343del (p.Arg113_Pro114del)
c.*639_*644del (n.*639_*644del)
c.*676_*681del (n.*676_*681del)
c.*345_*350del (n.*345_*350del)
c.449_454del (p.Arg150_Pro151del)
c.552_557del (p.Ala185_Ala186del)
c.*1141_*1146del (n.*1141_*1146del)
c.371_376del (p.Arg124_Pro125del)
c.422_427del (p.Arg141_Pro142del)
c.216_221del
n.1001_1006del
 ClinVar dbSNP gnomAD v4
16g.88643515C>ACA497362214CYBAc.436G>T
c.342G>T (p.Pro114=)
c.*643G>T (n.*643G>T)
c.*680G>T (n.*680G>T)
c.*349G>T (n.*349G>T)
c.453G>T (p.Pro151=)
c.556G>T (p.Ala186Ser)
c.*1145G>T (n.*1145G>T)
c.375G>T (p.Pro125=)
c.426G>T (p.Pro142=)
c.220G>T
n.1005G>T
 gnomAD v4
16g.88643515C=CA2241199702CYBAc.436G=
c.342G= (p.Pro114=)
c.*643G= (n.*643G=)
c.*680G= (n.*680G=)
c.*349G= (n.*349G=)
c.453G= (p.Pro151=)
c.556G= (p.Ala186=)
c.*1145G= (n.*1145G=)
c.375G= (p.Pro125=)
c.426G= (p.Pro142=)
c.220G=
n.1005G=
16g.88643515C>GCA497362215CYBAc.436G>C
c.342G>C (p.Pro114=)
c.*643G>C (n.*643G>C)
c.*680G>C (n.*680G>C)
c.*349G>C (n.*349G>C)
c.453G>C (p.Pro151=)
c.556G>C (p.Ala186Pro)
c.*1145G>C (n.*1145G>C)
c.375G>C (p.Pro125=)
c.426G>C (p.Pro142=)
c.220G>C
n.1005G>C
 ClinVar dbSNP
16g.88643515C>TCA8228198CYBAc.436G>A
c.342G>A (p.Pro114=)
c.*643G>A (n.*643G>A)
c.*680G>A (n.*680G>A)
c.*349G>A (n.*349G>A)
c.453G>A (p.Pro151=)
c.556G>A (p.Ala186Thr)
c.*1145G>A (n.*1145G>A)
c.375G>A (p.Pro125=)
c.426G>A (p.Pro142=)
c.220G>A
n.1005G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.88643516G>ACA286348362CYBAc.435C>T (p.Ala145=)
c.341C>T (p.Pro114Leu)
c.*642C>T (n.*642C>T)
c.*679C>T (n.*679C>T)
c.*348C>T (n.*348C>T)
c.452C>T (p.Pro151Leu)
c.555C>T (p.Ala185=)
c.*1144C>T (n.*1144C>T)
c.374C>T (p.Pro125Leu)
c.425C>T (p.Pro142Leu)
c.219C>T
n.1004C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643516G>CCA397057586CYBAc.435C>G (p.Ala145=)
c.341C>G (p.Pro114Arg)
c.*642C>G (n.*642C>G)
c.*679C>G (n.*679C>G)
c.*348C>G (n.*348C>G)
c.452C>G (p.Pro151Arg)
c.555C>G (p.Ala185=)
c.*1144C>G (n.*1144C>G)
c.374C>G (p.Pro125Arg)
c.425C>G (p.Pro142Arg)
c.219C>G
n.1004C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643516G=CA2241199703CYBAc.435C= (p.Ala145=)
c.341C= (p.Pro114=)
c.*642C= (n.*642C=)
c.*679C= (n.*679C=)
c.*348C= (n.*348C=)
c.452C= (p.Pro151=)
c.555C= (p.Ala185=)
c.*1144C= (n.*1144C=)
c.374C= (p.Pro125=)
c.425C= (p.Pro142=)
c.219C=
n.1004C=
16g.88643516G>TCA397057591CYBAc.435C>A (p.Ala145=)
c.341C>A (p.Pro114Gln)
c.*642C>A (n.*642C>A)
c.*679C>A (n.*679C>A)
c.*348C>A (n.*348C>A)
c.452C>A (p.Pro151Gln)
c.555C>A (p.Ala185=)
c.*1144C>A (n.*1144C>A)
c.374C>A (p.Pro125Gln)
c.425C>A (p.Pro142Gln)
c.219C>A
n.1004C>A
 gnomAD v4
16g.88643517G>ACA397057592CYBAc.434C>T (p.Ala145Val)
c.340C>T (p.Pro114Ser)
c.*641C>T (n.*641C>T)
c.*678C>T (n.*678C>T)
c.*347C>T (n.*347C>T)
c.451C>T (p.Pro151Ser)
c.554C>T (p.Ala185Val)
c.*1143C>T (n.*1143C>T)
c.373C>T (p.Pro125Ser)
c.424C>T (p.Pro142Ser)
c.218C>T
n.1003C>T
 gnomAD v4
16g.88643517G>CCA397057595CYBAc.434C>G (p.Ala145Gly)
c.340C>G (p.Pro114Ala)
c.*641C>G (n.*641C>G)
c.*678C>G (n.*678C>G)
c.*347C>G (n.*347C>G)
c.451C>G (p.Pro151Ala)
c.554C>G (p.Ala185Gly)
c.*1143C>G (n.*1143C>G)
c.373C>G (p.Pro125Ala)
c.424C>G (p.Pro142Ala)
c.218C>G
n.1003C>G
16g.88643517G>TCA397057598CYBAc.434C>A (p.Ala145Asp)
c.340C>A (p.Pro114Thr)
c.*641C>A (n.*641C>A)
c.*678C>A (n.*678C>A)
c.*347C>A (n.*347C>A)
c.451C>A (p.Pro151Thr)
c.554C>A (p.Ala185Asp)
c.*1143C>A (n.*1143C>A)
c.373C>A (p.Pro125Thr)
c.424C>A (p.Pro142Thr)
c.218C>A
n.1003C>A
 ClinVar gnomAD v4
16g.88643518C>ACA497362219CYBAc.433G>T (p.Ala145Ser)
c.339G>T (p.Arg113=)
c.*640G>T (n.*640G>T)
c.*677G>T (n.*677G>T)
c.*346G>T (n.*346G>T)
c.450G>T (p.Arg150=)
c.553G>T (p.Ala185Ser)
c.*1142G>T (n.*1142G>T)
c.372G>T (p.Arg124=)
c.423G>T (p.Arg141=)
c.217G>T
n.1002G>T
 gnomAD v4
16g.88643518C=CA2241199704CYBAc.433G= (p.Ala145=)
c.339G= (p.Arg113=)
c.*640G= (n.*640G=)
c.*677G= (n.*677G=)
c.*346G= (n.*346G=)
c.450G= (p.Arg150=)
c.553G= (p.Ala185=)
c.*1142G= (n.*1142G=)
c.372G= (p.Arg124=)
c.423G= (p.Arg141=)
c.217G=
n.1002G=
16g.88643518C>GCA497362217CYBAc.433G>C (p.Ala145Pro)
c.339G>C (p.Arg113=)
c.*640G>C (n.*640G>C)
c.*677G>C (n.*677G>C)
c.*346G>C (n.*346G>C)
c.450G>C (p.Arg150=)
c.553G>C (p.Ala185Pro)
c.*1142G>C (n.*1142G>C)
c.372G>C (p.Arg124=)
c.423G>C (p.Arg141=)
c.217G>C
n.1002G>C
 gnomAD v4
16g.88643518C>TCA497362218CYBAc.433G>A (p.Ala145Thr)
c.339G>A (p.Arg113=)
c.*640G>A (n.*640G>A)
c.*677G>A (n.*677G>A)
c.*346G>A (n.*346G>A)
c.450G>A (p.Arg150=)
c.553G>A (p.Ala185Thr)
c.*1142G>A (n.*1142G>A)
c.372G>A (p.Arg124=)
c.423G>A (p.Arg141=)
c.217G>A
n.1002G>A
 dbSNP gnomAD v2 gnomAD v4
16g.88643519C>ACA397057604CYBAc.432G>T (p.Ala144=)
c.338G>T (p.Arg113Leu)
c.*639G>T (n.*639G>T)
c.*676G>T (n.*676G>T)
c.*345G>T (n.*345G>T)
c.449G>T (p.Arg150Leu)
c.552G>T (p.Ala184=)
c.*1141G>T (n.*1141G>T)
c.371G>T (p.Arg124Leu)
c.422G>T (p.Arg141Leu)
c.216G>T
n.1001G>T
 gnomAD v4
16g.88643519C=CA2241199705CYBAc.432G= (p.Ala144=)
c.338G= (p.Arg113=)
c.*639G= (n.*639G=)
c.*676G= (n.*676G=)
c.*345G= (n.*345G=)
c.449G= (p.Arg150=)
c.552G= (p.Ala184=)
c.*1141G= (n.*1141G=)
c.371G= (p.Arg124=)
c.422G= (p.Arg141=)
c.216G=
n.1001G=
16g.88643519C>GCA397057608CYBAc.432G>C (p.Ala144=)
c.338G>C (p.Arg113Pro)
c.*639G>C (n.*639G>C)
c.*676G>C (n.*676G>C)
c.*345G>C (n.*345G>C)
c.449G>C (p.Arg150Pro)
c.552G>C (p.Ala184=)
c.*1141G>C (n.*1141G>C)
c.371G>C (p.Arg124Pro)
c.422G>C (p.Arg141Pro)
c.216G>C
n.1001G>C
 gnomAD v4
16g.88643519C>TCA397057611CYBAc.432G>A (p.Ala144=)
c.338G>A (p.Arg113Gln)
c.*639G>A (n.*639G>A)
c.*676G>A (n.*676G>A)
c.*345G>A (n.*345G>A)
c.449G>A (p.Arg150Gln)
c.552G>A (p.Ala184=)
c.*1141G>A (n.*1141G>A)
c.371G>A (p.Arg124Gln)
c.422G>A (p.Arg141Gln)
c.216G>A
n.1001G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643520G>ACA8228199CYBAc.431C>T (p.Ala144Val)
c.337C>T (p.Arg113Trp)
c.*638C>T (n.*638C>T)
c.*675C>T (n.*675C>T)
c.*344C>T (n.*344C>T)
c.448C>T (p.Arg150Trp)
c.551C>T (p.Ala184Val)
c.*1140C>T (n.*1140C>T)
c.370C>T (p.Arg124Trp)
c.421C>T (p.Arg141Trp)
c.215C>T
n.1000C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88643520G>CCA397057619CYBAc.431C>G (p.Ala144Gly)
c.337C>G (p.Arg113Gly)
c.*638C>G (n.*638C>G)
c.*675C>G (n.*675C>G)
c.*344C>G (n.*344C>G)
c.448C>G (p.Arg150Gly)
c.551C>G (p.Ala184Gly)
c.*1140C>G (n.*1140C>G)
c.370C>G (p.Arg124Gly)
c.421C>G (p.Arg141Gly)
c.215C>G
n.1000C>G
16g.88643520G=CA2241199706CYBAc.431C= (p.Ala144=)
c.337C= (p.Arg113=)
c.*638C= (n.*638C=)
c.*675C= (n.*675C=)
c.*344C= (n.*344C=)
c.448C= (p.Arg150=)
c.551C= (p.Ala184=)
c.*1140C= (n.*1140C=)
c.370C= (p.Arg124=)
c.421C= (p.Arg141=)
c.215C=
n.1000C=
16g.88643520G>TCA497362221CYBAc.431C>A (p.Ala144Glu)
c.337C>A (p.Arg113=)
c.*638C>A (n.*638C>A)
c.*675C>A (n.*675C>A)
c.*344C>A (n.*344C>A)
c.448C>A (p.Arg150=)
c.551C>A (p.Ala184Glu)
c.*1140C>A (n.*1140C>A)
c.370C>A (p.Arg124=)
c.421C>A (p.Arg141=)
c.215C>A
n.1000C>A
 gnomAD v4
16g.88643521C>ACA397057624CYBAc.430G>T (p.Ala144Ser)
c.336G>T (p.Glu112Asp)
c.*637G>T (n.*637G>T)
c.*674G>T (n.*674G>T)
c.*343G>T (n.*343G>T)
c.447G>T (p.Glu149Asp)
c.550G>T (p.Ala184Ser)
c.*1139G>T (n.*1139G>T)
c.369G>T (p.Glu123Asp)
c.420G>T (p.Glu140Asp)
c.214G>T
n.999G>T
 gnomAD v4
16g.88643521C>GCA397057627CYBAc.430G>C (p.Ala144Pro)
c.336G>C (p.Glu112Asp)
c.*637G>C (n.*637G>C)
c.*674G>C (n.*674G>C)
c.*343G>C (n.*343G>C)
c.447G>C (p.Glu149Asp)
c.550G>C (p.Ala184Pro)
c.*1139G>C (n.*1139G>C)
c.369G>C (p.Glu123Asp)
c.420G>C (p.Glu140Asp)
c.214G>C
n.999G>C
16g.88643521C>TCA497362222CYBAc.430G>A (p.Ala144Thr)
c.336G>A (p.Glu112=)
c.*637G>A (n.*637G>A)
c.*674G>A (n.*674G>A)
c.*343G>A (n.*343G>A)
c.447G>A (p.Glu149=)
c.550G>A (p.Ala184Thr)
c.*1139G>A (n.*1139G>A)
c.369G>A (p.Glu123=)
c.420G>A (p.Glu140=)
c.214G>A
n.999G>A
 gnomAD v4
16g.88643522T>ACA397057635CYBAc.429A>T (p.Gly143=)
c.335A>T (p.Glu112Val)
c.*636A>T (n.*636A>T)
c.*673A>T (n.*673A>T)
c.*342A>T (n.*342A>T)
c.446A>T (p.Glu149Val)
c.549A>T (p.Gly183=)
c.*1138A>T (n.*1138A>T)
c.368A>T (p.Glu123Val)
c.419A>T (p.Glu140Val)
c.213A>T
n.998A>T
16g.88643522T>CCA397057629CYBAc.429A>G (p.Gly143=)
c.335A>G (p.Glu112Gly)
c.*636A>G (n.*636A>G)
c.*673A>G (n.*673A>G)
c.*342A>G (n.*342A>G)
c.446A>G (p.Glu149Gly)
c.549A>G (p.Gly183=)
c.*1138A>G (n.*1138A>G)
c.368A>G (p.Glu123Gly)
c.419A>G (p.Glu140Gly)
c.213A>G
n.998A>G
 gnomAD v4
16g.88643522T>GCA397057633CYBAc.429A>C (p.Gly143=)
c.335A>C (p.Glu112Ala)
c.*636A>C (n.*636A>C)
c.*673A>C (n.*673A>C)
c.*342A>C (n.*342A>C)
c.446A>C (p.Glu149Ala)
c.549A>C (p.Gly183=)
c.*1138A>C (n.*1138A>C)
c.368A>C (p.Glu123Ala)
c.419A>C (p.Glu140Ala)
c.213A>C
n.998A>C
16g.88643523C>ACA397057646CYBAc.428G>T (p.Gly143Val)
c.334G>T (p.Glu112Ter)
c.*635G>T (n.*635G>T)
c.*672G>T (n.*672G>T)
c.*341G>T (n.*341G>T)
c.445G>T (p.Glu149Ter)
c.548G>T (p.Gly183Val)
c.*1137G>T (n.*1137G>T)
c.367G>T (p.Glu123Ter)
c.418G>T (p.Glu140Ter)
c.212G>T
n.997G>T
 gnomAD v4
16g.88643523C=CA2241199707CYBAc.428G= (p.Gly143=)
c.334G= (p.Glu112=)
c.*635G= (n.*635G=)
c.*672G= (n.*672G=)
c.*341G= (n.*341G=)
c.445G= (p.Glu149=)
c.548G= (p.Gly183=)
c.*1137G= (n.*1137G=)
c.367G= (p.Glu123=)
c.418G= (p.Glu140=)
c.212G=
n.997G=
16g.88643523C>GCA397057649CYBAc.428G>C (p.Gly143Ala)
c.334G>C (p.Glu112Gln)
c.*635G>C (n.*635G>C)
c.*672G>C (n.*672G>C)
c.*341G>C (n.*341G>C)
c.445G>C (p.Glu149Gln)
c.548G>C (p.Gly183Ala)
c.*1137G>C (n.*1137G>C)
c.367G>C (p.Glu123Gln)
c.418G>C (p.Glu140Gln)
c.212G>C
n.997G>C
 dbSNP gnomAD v4
16g.88643523C>TCA8228200CYBAc.428G>A (p.Gly143Glu)
c.334G>A (p.Glu112Lys)
c.*635G>A (n.*635G>A)
c.*672G>A (n.*672G>A)
c.*341G>A (n.*341G>A)
c.445G>A (p.Glu149Lys)
c.548G>A (p.Gly183Glu)
c.*1137G>A (n.*1137G>A)
c.367G>A (p.Glu123Lys)
c.418G>A (p.Glu140Lys)
c.212G>A
n.997G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.88643525delCA2634848447CYBAc.428del (p.Gly143GlufsTer?)
c.334del (p.Glu112SerfsTer?)
c.*635del (n.*635del)
c.*672del (n.*672del)
c.*341del (n.*341del)
c.445del (p.Glu149SerfsTer?)
c.548del (p.Gly183GlufsTer?)
c.*1137del (n.*1137del)
c.367del (p.Glu123SerfsTer?)
c.418del (p.Glu140SerfsTer?)
c.212del
n.997del
 gnomAD v4
16g.88643524C>ACA497362225CYBAc.427G>T (p.Gly143Ter)
c.333G>T (p.Arg111=)
c.*634G>T (n.*634G>T)
c.*671G>T (n.*671G>T)
c.*340G>T (n.*340G>T)
c.444G>T (p.Arg148=)
c.547G>T (p.Gly183Ter)
c.*1136G>T (n.*1136G>T)
c.366G>T (p.Arg122=)
c.417G>T (p.Arg139=)
c.211G>T
n.996G>T
 gnomAD v4
16g.88643524C=CA2241199708CYBAc.427G= (p.Gly143=)
c.333G= (p.Arg111=)
c.*634G= (n.*634G=)
c.*671G= (n.*671G=)
c.*340G= (n.*340G=)
c.444G= (p.Arg148=)
c.547G= (p.Gly183=)
c.*1136G= (n.*1136G=)
c.366G= (p.Arg122=)
c.417G= (p.Arg139=)
c.211G=
n.996G=
16g.88643524C>GCA497362226CYBAc.427G>C (p.Gly143Arg)
c.333G>C (p.Arg111=)
c.*634G>C (n.*634G>C)
c.*671G>C (n.*671G>C)
c.*340G>C (n.*340G>C)
c.444G>C (p.Arg148=)
c.547G>C (p.Gly183Arg)
c.*1136G>C (n.*1136G>C)
c.366G>C (p.Arg122=)
c.417G>C (p.Arg139=)
c.211G>C
n.996G>C
 dbSNP gnomAD v3 gnomAD v4
16g.88643524C>TCA497362227CYBAc.427G>A (p.Gly143Arg)
c.333G>A (p.Arg111=)
c.*634G>A (n.*634G>A)
c.*671G>A (n.*671G>A)
c.*340G>A (n.*340G>A)
c.444G>A (p.Arg148=)
c.547G>A (p.Gly183Arg)
c.*1136G>A (n.*1136G>A)
c.366G>A (p.Arg122=)
c.417G>A (p.Arg139=)
c.211G>A
n.996G>A
 gnomAD v4
16g.88643525C>ACA397057652CYBAc.426G>T (p.Pro142=)
c.332G>T (p.Arg111Leu)
c.*633G>T (n.*633G>T)
c.*670G>T (n.*670G>T)
c.*339G>T (n.*339G>T)
c.443G>T (p.Arg148Leu)
c.546G>T (p.Pro182=)
c.*1135G>T (n.*1135G>T)
c.365G>T (p.Arg122Leu)
c.416G>T (p.Arg139Leu)
c.210G>T
n.995G>T
 gnomAD v4
16g.88643525C=CA2241199709CYBAc.426G= (p.Pro142=)
c.332G= (p.Arg111=)
c.*633G= (n.*633G=)
c.*670G= (n.*670G=)
c.*339G= (n.*339G=)
c.443G= (p.Arg148=)
c.546G= (p.Pro182=)
c.*1135G= (n.*1135G=)
c.365G= (p.Arg122=)
c.416G= (p.Arg139=)
c.210G=
n.995G=
16g.88643525C>GCA397057653CYBAc.426G>C (p.Pro142=)
c.332G>C (p.Arg111Pro)
c.*633G>C (n.*633G>C)
c.*670G>C (n.*670G>C)
c.*339G>C (n.*339G>C)
c.443G>C (p.Arg148Pro)
c.546G>C (p.Pro182=)
c.*1135G>C (n.*1135G>C)
c.365G>C (p.Arg122Pro)
c.416G>C (p.Arg139Pro)
c.210G>C
n.995G>C
16g.88643525C>TCA397057655CYBAc.426G>A (p.Pro142=)
c.332G>A (p.Arg111Gln)
c.*633G>A (n.*633G>A)
c.*670G>A (n.*670G>A)
c.*339G>A (n.*339G>A)
c.443G>A (p.Arg148Gln)
c.546G>A (p.Pro182=)
c.*1135G>A (n.*1135G>A)
c.365G>A (p.Arg122Gln)
c.416G>A (p.Arg139Gln)
c.210G>A
n.995G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643525_88643526delinsCGCA2241199710CYBAc.425_426delinsCG (p.Pro142=)
c.331_332delinsCG (p.Arg111=)
c.*632_*633delinsCG (n.*632_*633delinsCG)
c.*669_*670delinsCG (n.*669_*670delinsCG)
c.*338_*339delinsCG (n.*338_*339delinsCG)
c.442_443delinsCG (p.Arg148=)
c.545_546delinsCG (p.Pro182=)
c.*1134_*1135delinsCG (n.*1134_*1135delinsCG)
c.364_365delinsCG (p.Arg122=)
c.415_416delinsCG (p.Arg139=)
c.209_210delinsCG
n.994_995delinsCG
16g.88643526G>ACA286348370CYBAc.425C>T (p.Pro142Leu)
c.331C>T (p.Arg111Trp)
c.*632C>T (n.*632C>T)
c.*669C>T (n.*669C>T)
c.*338C>T (n.*338C>T)
c.442C>T (p.Arg148Trp)
c.545C>T (p.Pro182Leu)
c.*1134C>T (n.*1134C>T)
c.364C>T (p.Arg122Trp)
c.415C>T (p.Arg139Trp)
c.209C>T
n.994C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88643526G>CCA397057662CYBAc.425C>G (p.Pro142Arg)
c.331C>G (p.Arg111Gly)
c.*632C>G (n.*632C>G)
c.*669C>G (n.*669C>G)
c.*338C>G (n.*338C>G)
c.442C>G (p.Arg148Gly)
c.545C>G (p.Pro182Arg)
c.*1134C>G (n.*1134C>G)
c.364C>G (p.Arg122Gly)
c.415C>G (p.Arg139Gly)
c.209C>G
n.994C>G
 ClinVar dbSNP gnomAD v4
16g.88643526G=CA2241199711CYBAc.425C= (p.Pro142=)
c.331C= (p.Arg111=)
c.*632C= (n.*632C=)
c.*669C= (n.*669C=)
c.*338C= (n.*338C=)
c.442C= (p.Arg148=)
c.545C= (p.Pro182=)
c.*1134C= (n.*1134C=)
c.364C= (p.Arg122=)
c.415C= (p.Arg139=)
c.209C=
n.994C=
16g.88643526G>TCA497362228CYBAc.425C>A (p.Pro142Gln)
c.331C>A (p.Arg111=)
c.*632C>A (n.*632C>A)
c.*669C>A (n.*669C>A)
c.*338C>A (n.*338C>A)
c.442C>A (p.Arg148=)
c.545C>A (p.Pro182Gln)
c.*1134C>A (n.*1134C>A)
c.364C>A (p.Arg122=)
c.415C>A (p.Arg139=)
c.209C>A
n.994C>A
 gnomAD v4
16g.88643529delCA913190815CYBAc.425del (p.Pro142ArgfsTer?)
c.331del (p.Arg111GlyfsTer?)
c.*632del (n.*632del)
c.*669del (n.*669del)
c.*338del (n.*338del)
c.442del (p.Arg148GlyfsTer?)
c.545del (p.Pro182ArgfsTer?)
c.*1134del (n.*1134del)
c.364del (p.Arg122GlyfsTer?)
c.415del (p.Arg139GlyfsTer?)
c.209del
n.994del
 ClinVar dbSNP gnomAD v4
16g.88643527G>ACA497362229CYBAc.424C>T (p.Pro142Ser)
c.330C>T (p.Pro110=)
c.*631C>T (n.*631C>T)
c.*668C>T (n.*668C>T)
c.*337C>T (n.*337C>T)
c.441C>T (p.Pro147=)
c.544C>T (p.Pro182Ser)
c.*1133C>T (n.*1133C>T)
c.363C>T (p.Pro121=)
c.414C>T (p.Pro138=)
c.208C>T
n.993C>T
 gnomAD v4
16g.88643527G>CCA497362230CYBAc.424C>G (p.Pro142Ala)
c.330C>G (p.Pro110=)
c.*631C>G (n.*631C>G)
c.*668C>G (n.*668C>G)
c.*337C>G (n.*337C>G)
c.441C>G (p.Pro147=)
c.544C>G (p.Pro182Ala)
c.*1133C>G (n.*1133C>G)
c.363C>G (p.Pro121=)
c.414C>G (p.Pro138=)
c.208C>G
n.993C>G
16g.88643527G>TCA497362231CYBAc.424C>A (p.Pro142Thr)
c.330C>A (p.Pro110=)
c.*631C>A (n.*631C>A)
c.*668C>A (n.*668C>A)
c.*337C>A (n.*337C>A)
c.441C>A (p.Pro147=)
c.544C>A (p.Pro182Thr)
c.*1133C>A (n.*1133C>A)
c.363C>A (p.Pro121=)
c.414C>A (p.Pro138=)
c.208C>A
n.993C>A
 dbSNP gnomAD v4
16g.88643528G>ACA397057665CYBAc.423C>T (p.Ala141=)
c.329C>T (p.Pro110Leu)
c.*630C>T (n.*630C>T)
c.*667C>T (n.*667C>T)
c.*336C>T (n.*336C>T)
c.440C>T (p.Pro147Leu)
c.543C>T (p.Ala181=)
c.*1132C>T (n.*1132C>T)
c.362C>T (p.Pro121Leu)
c.413C>T (p.Pro138Leu)
c.207C>T
n.992C>T
 dbSNP gnomAD v3 gnomAD v4
16g.88643528G>CCA397057668CYBAc.423C>G (p.Ala141=)
c.329C>G (p.Pro110Arg)
c.*630C>G (n.*630C>G)
c.*667C>G (n.*667C>G)
c.*336C>G (n.*336C>G)
c.440C>G (p.Pro147Arg)
c.543C>G (p.Ala181=)
c.*1132C>G (n.*1132C>G)
c.362C>G (p.Pro121Arg)
c.413C>G (p.Pro138Arg)
c.207C>G
n.992C>G
16g.88643528G=CA2241199712CYBAc.423C= (p.Ala141=)
c.329C= (p.Pro110=)
c.*630C= (n.*630C=)
c.*667C= (n.*667C=)
c.*336C= (n.*336C=)
c.440C= (p.Pro147=)
c.543C= (p.Ala181=)
c.*1132C= (n.*1132C=)
c.362C= (p.Pro121=)
c.413C= (p.Pro138=)
c.207C=
n.992C=
16g.88643528G>TCA397057673CYBAc.423C>A (p.Ala141=)
c.329C>A (p.Pro110His)
c.*630C>A (n.*630C>A)
c.*667C>A (n.*667C>A)
c.*336C>A (n.*336C>A)
c.440C>A (p.Pro147His)
c.543C>A (p.Ala181=)
c.*1132C>A (n.*1132C>A)
c.362C>A (p.Pro121His)
c.413C>A (p.Pro138His)
c.207C>A
n.992C>A
 gnomAD v4
16g.88643529G>ACA397057680CYBAc.422C>T (p.Ala141Val)
c.328C>T (p.Pro110Ser)
c.*629C>T (n.*629C>T)
c.*666C>T (n.*666C>T)
c.*335C>T (n.*335C>T)
c.439C>T (p.Pro147Ser)
c.542C>T (p.Ala181Val)
c.*1131C>T (n.*1131C>T)
c.361C>T (p.Pro121Ser)
c.412C>T (p.Pro138Ser)
c.206C>T
n.991C>T
 gnomAD v4
16g.88643529G>CCA397057679CYBAc.422C>G (p.Ala141Gly)
c.328C>G (p.Pro110Ala)
c.*629C>G (n.*629C>G)
c.*666C>G (n.*666C>G)
c.*335C>G (n.*335C>G)
c.439C>G (p.Pro147Ala)
c.542C>G (p.Ala181Gly)
c.*1131C>G (n.*1131C>G)
c.361C>G (p.Pro121Ala)
c.412C>G (p.Pro138Ala)
c.206C>G
n.991C>G
 gnomAD v4
16g.88643529G>TCA397057677CYBAc.422C>A (p.Ala141Asp)
c.328C>A (p.Pro110Thr)
c.*629C>A (n.*629C>A)
c.*666C>A (n.*666C>A)
c.*335C>A (n.*335C>A)
c.439C>A (p.Pro147Thr)
c.542C>A (p.Ala181Asp)
c.*1131C>A (n.*1131C>A)
c.361C>A (p.Pro121Thr)
c.412C>A (p.Pro138Thr)
c.206C>A
n.991C>A
 gnomAD v4
16g.88643530C>ACA397057682CYBAc.421G>T (p.Ala141Ser)
c.327G>T (p.Lys109Asn)
c.*628G>T (n.*628G>T)
c.*665G>T (n.*665G>T)
c.*334G>T (n.*334G>T)
c.438G>T (p.Lys146Asn)
c.541G>T (p.Ala181Ser)
c.*1130G>T (n.*1130G>T)
c.360G>T (p.Lys120Asn)
c.411G>T (p.Lys137Asn)
c.205G>T
n.990G>T
 gnomAD v4
16g.88643530C=CA2241199713CYBAc.421G= (p.Ala141=)
c.327G= (p.Lys109=)
c.*628G= (n.*628G=)
c.*665G= (n.*665G=)
c.*334G= (n.*334G=)
c.438G= (p.Lys146=)
c.541G= (p.Ala181=)
c.*1130G= (n.*1130G=)
c.360G= (p.Lys120=)
c.411G= (p.Lys137=)
c.205G=
n.990G=
16g.88643530C>GCA8228201CYBAc.421G>C (p.Ala141Pro)
c.327G>C (p.Lys109Asn)
c.*628G>C (n.*628G>C)
c.*665G>C (n.*665G>C)
c.*334G>C (n.*334G>C)
c.438G>C (p.Lys146Asn)
c.541G>C (p.Ala181Pro)
c.*1130G>C (n.*1130G>C)
c.360G>C (p.Lys120Asn)
c.411G>C (p.Lys137Asn)
c.205G>C
n.990G>C
 dbSNP ExAC
16g.88643530C>TCA497362233CYBAc.421G>A (p.Ala141Thr)
c.327G>A (p.Lys109=)
c.*628G>A (n.*628G>A)
c.*665G>A (n.*665G>A)
c.*334G>A (n.*334G>A)
c.438G>A (p.Lys146=)
c.541G>A (p.Ala181Thr)
c.*1130G>A (n.*1130G>A)
c.360G>A (p.Lys120=)
c.411G>A (p.Lys137=)
c.205G>A
n.990G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643531T>ACA397057687CYBAc.420A>T (p.Gln140His)
c.326A>T (p.Lys109Met)
c.*627A>T (n.*627A>T)
c.*664A>T (n.*664A>T)
c.*333A>T (n.*333A>T)
c.437A>T (p.Lys146Met)
c.540A>T (p.Gln180His)
c.*1129A>T (n.*1129A>T)
c.359A>T (p.Lys120Met)
c.410A>T (p.Lys137Met)
c.204A>T
n.989A>T
16g.88643531T>CCA397057690CYBAc.420A>G (p.Gln140=)
c.326A>G (p.Lys109Arg)
c.*627A>G (n.*627A>G)
c.*664A>G (n.*664A>G)
c.*333A>G (n.*333A>G)
c.437A>G (p.Lys146Arg)
c.540A>G (p.Gln180=)
c.*1129A>G (n.*1129A>G)
c.359A>G (p.Lys120Arg)
c.410A>G (p.Lys137Arg)
c.204A>G
n.989A>G
 dbSNP gnomAD v3 gnomAD v4
16g.88643531T>GCA397057693CYBAc.420A>C (p.Gln140His)
c.326A>C (p.Lys109Thr)
c.*627A>C (n.*627A>C)
c.*664A>C (n.*664A>C)
c.*333A>C (n.*333A>C)
c.437A>C (p.Lys146Thr)
c.540A>C (p.Gln180His)
c.*1129A>C (n.*1129A>C)
c.359A>C (p.Lys120Thr)
c.410A>C (p.Lys137Thr)
c.204A>C
n.989A>C
 gnomAD v4
16g.88643531T=CA2241199714CYBAc.420A= (p.Gln140=)
c.326A= (p.Lys109=)
c.*627A= (n.*627A=)
c.*664A= (n.*664A=)
c.*333A= (n.*333A=)
c.437A= (p.Lys146=)
c.540A= (p.Gln180=)
c.*1129A= (n.*1129A=)
c.359A= (p.Lys120=)
c.410A= (p.Lys137=)
c.204A=
n.989A=
16g.88643532T>ACA397057698CYBAc.419A>T (p.Gln140Leu)
c.325A>T (p.Lys109Ter)
c.*626A>T (n.*626A>T)
c.*663A>T (n.*663A>T)
c.*332A>T (n.*332A>T)
c.436A>T (p.Lys146Ter)
c.539A>T (p.Gln180Leu)
c.*1128A>T (n.*1128A>T)
c.358A>T (p.Lys120Ter)
c.409A>T (p.Lys137Ter)
c.203A>T
n.988A>T
16g.88643532T>CCA286348383CYBAc.419A>G (p.Gln140Arg)
c.325A>G (p.Lys109Glu)
c.*626A>G (n.*626A>G)
c.*663A>G (n.*663A>G)
c.*332A>G (n.*332A>G)
c.436A>G (p.Lys146Glu)
c.539A>G (p.Gln180Arg)
c.*1128A>G (n.*1128A>G)
c.358A>G (p.Lys120Glu)
c.409A>G (p.Lys137Glu)
c.203A>G
n.988A>G
 dbSNP gnomAD v2 gnomAD v4
16g.88643532T>GCA397057705CYBAc.419A>C (p.Gln140Pro)
c.325A>C (p.Lys109Gln)
c.*626A>C (n.*626A>C)
c.*663A>C (n.*663A>C)
c.*332A>C (n.*332A>C)
c.436A>C (p.Lys146Gln)
c.539A>C (p.Gln180Pro)
c.*1128A>C (n.*1128A>C)
c.358A>C (p.Lys120Gln)
c.409A>C (p.Lys137Gln)
c.203A>C
n.988A>C
16g.88643532T=CA2241199715CYBAc.419A= (p.Gln140=)
c.325A= (p.Lys109=)
c.*626A= (n.*626A=)
c.*663A= (n.*663A=)
c.*332A= (n.*332A=)
c.436A= (p.Lys146=)
c.539A= (p.Gln180=)
c.*1128A= (n.*1128A=)
c.358A= (p.Lys120=)
c.409A= (p.Lys137=)
c.203A=
n.988A=
16g.88643533G>ACA497362234CYBAc.418C>T (p.Gln140Ter)
c.324C>T (p.Pro108=)
c.*625C>T (n.*625C>T)
c.*662C>T (n.*662C>T)
c.*331C>T (n.*331C>T)
c.435C>T (p.Pro145=)
c.538C>T (p.Gln180Ter)
c.*1127C>T (n.*1127C>T)
c.357C>T (p.Pro119=)
c.408C>T (p.Pro136=)
c.202C>T
n.987C>T
16g.88643533G>CCA497362235CYBAc.418C>G (p.Gln140Glu)
c.324C>G (p.Pro108=)
c.*625C>G (n.*625C>G)
c.*662C>G (n.*662C>G)
c.*331C>G (n.*331C>G)
c.435C>G (p.Pro145=)
c.538C>G (p.Gln180Glu)
c.*1127C>G (n.*1127C>G)
c.357C>G (p.Pro119=)
c.408C>G (p.Pro136=)
c.202C>G
n.987C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643533G=CA2241199716CYBAc.418C= (p.Gln140=)
c.324C= (p.Pro108=)
c.*625C= (n.*625C=)
c.*662C= (n.*662C=)
c.*331C= (n.*331C=)
c.435C= (p.Pro145=)
c.538C= (p.Gln180=)
c.*1127C= (n.*1127C=)
c.357C= (p.Pro119=)
c.408C= (p.Pro136=)
c.202C=
n.987C=
16g.88643533G>TCA286348388CYBAc.418C>A (p.Gln140Lys)
c.324C>A (p.Pro108=)
c.*625C>A (n.*625C>A)
c.*662C>A (n.*662C>A)
c.*331C>A (n.*331C>A)
c.435C>A (p.Pro145=)
c.538C>A (p.Gln180Lys)
c.*1127C>A (n.*1127C>A)
c.357C>A (p.Pro119=)
c.408C>A (p.Pro136=)
c.202C>A
n.987C>A
 dbSNP gnomAD v4
16g.88643535delCA2634848501CYBAc.418del (p.Gln140LysfsTer?)
c.324del (p.Lys109SerfsTer?)
c.*625del (n.*625del)
c.*662del (n.*662del)
c.*331del (n.*331del)
c.435del (p.Lys146SerfsTer?)
c.538del (p.Gln180LysfsTer?)
c.*1127del (n.*1127del)
c.357del (p.Lys120SerfsTer?)
c.408del (p.Lys137SerfsTer?)
c.202del
n.987del
 gnomAD v4
16g.88643534G>ACA397057719CYBAc.417C>T (p.Ala139=)
c.323C>T (p.Pro108Leu)
c.*624C>T (n.*624C>T)
c.*661C>T (n.*661C>T)
c.*330C>T (n.*330C>T)
c.434C>T (p.Pro145Leu)
c.537C>T (p.Ala179=)
c.*1126C>T (n.*1126C>T)
c.356C>T (p.Pro119Leu)
c.407C>T (p.Pro136Leu)
c.201C>T
n.986C>T
 dbSNP gnomAD v3 gnomAD v4
16g.88643534G>CCA397057723CYBAc.417C>G (p.Ala139=)
c.323C>G (p.Pro108Arg)
c.*624C>G (n.*624C>G)
c.*661C>G (n.*661C>G)
c.*330C>G (n.*330C>G)
c.434C>G (p.Pro145Arg)
c.537C>G (p.Ala179=)
c.*1126C>G (n.*1126C>G)
c.356C>G (p.Pro119Arg)
c.407C>G (p.Pro136Arg)
c.201C>G
n.986C>G
16g.88643534G=CA2241199717CYBAc.417C= (p.Ala139=)
c.323C= (p.Pro108=)
c.*624C= (n.*624C=)
c.*661C= (n.*661C=)
c.*330C= (n.*330C=)
c.434C= (p.Pro145=)
c.537C= (p.Ala179=)
c.*1126C= (n.*1126C=)
c.356C= (p.Pro119=)
c.407C= (p.Pro136=)
c.201C=
n.986C=
16g.88643534G>TCA397057725CYBAc.417C>A (p.Ala139=)
c.323C>A (p.Pro108His)
c.*624C>A (n.*624C>A)
c.*661C>A (n.*661C>A)
c.*330C>A (n.*330C>A)
c.434C>A (p.Pro145His)
c.537C>A (p.Ala179=)
c.*1126C>A (n.*1126C>A)
c.356C>A (p.Pro119His)
c.407C>A (p.Pro136His)
c.201C>A
n.986C>A
 dbSNP gnomAD v3 gnomAD v4
16g.88643535G>ACA397057737CYBAc.416C>T (p.Ala139Val)
c.322C>T (p.Pro108Ser)
c.*623C>T (n.*623C>T)
c.*660C>T (n.*660C>T)
c.*329C>T (n.*329C>T)
c.433C>T (p.Pro145Ser)
c.536C>T (p.Ala179Val)
c.*1125C>T (n.*1125C>T)
c.355C>T (p.Pro119Ser)
c.406C>T (p.Pro136Ser)
c.200C>T
n.985C>T
 dbSNP gnomAD v2 gnomAD v4
16g.88643535G>CCA397057733CYBAc.416C>G (p.Ala139Gly)
c.322C>G (p.Pro108Ala)
c.*623C>G (n.*623C>G)
c.*660C>G (n.*660C>G)
c.*329C>G (n.*329C>G)
c.433C>G (p.Pro145Ala)
c.536C>G (p.Ala179Gly)
c.*1125C>G (n.*1125C>G)
c.355C>G (p.Pro119Ala)
c.406C>G (p.Pro136Ala)
c.200C>G
n.985C>G
 gnomAD v4
16g.88643535G=CA2241199718CYBAc.416C= (p.Ala139=)
c.322C= (p.Pro108=)
c.*623C= (n.*623C=)
c.*660C= (n.*660C=)
c.*329C= (n.*329C=)
c.433C= (p.Pro145=)
c.536C= (p.Ala179=)
c.*1125C= (n.*1125C=)
c.355C= (p.Pro119=)
c.406C= (p.Pro136=)
c.200C=
n.985C=
16g.88643535G>TCA397057731CYBAc.416C>A (p.Ala139Asp)
c.322C>A (p.Pro108Thr)
c.*623C>A (n.*623C>A)
c.*660C>A (n.*660C>A)
c.*329C>A (n.*329C>A)
c.433C>A (p.Pro145Thr)
c.536C>A (p.Ala179Asp)
c.*1125C>A (n.*1125C>A)
c.355C>A (p.Pro119Thr)
c.406C>A (p.Pro136Thr)
c.200C>A
n.985C>A
 gnomAD v4
16g.88643536C>ACA397057741CYBAc.415G>T (p.Ala139Ser)
c.321G>T (p.Glu107Asp)
c.*622G>T (n.*622G>T)
c.*659G>T (n.*659G>T)
c.*328G>T (n.*328G>T)
c.432G>T (p.Glu144Asp)
c.535G>T (p.Ala179Ser)
c.*1124G>T (n.*1124G>T)
c.354G>T (p.Glu118Asp)
c.405G>T (p.Glu135Asp)
c.199G>T
n.984G>T
 gnomAD v4
16g.88643536C=CA2241199719CYBAc.415G= (p.Ala139=)
c.321G= (p.Glu107=)
c.*622G= (n.*622G=)
c.*659G= (n.*659G=)
c.*328G= (n.*328G=)
c.432G= (p.Glu144=)
c.535G= (p.Ala179=)
c.*1124G= (n.*1124G=)
c.354G= (p.Glu118=)
c.405G= (p.Glu135=)
c.199G=
n.984G=
16g.88643536C>GCA397057746CYBAc.415G>C (p.Ala139Pro)
c.321G>C (p.Glu107Asp)
c.*622G>C (n.*622G>C)
c.*659G>C (n.*659G>C)
c.*328G>C (n.*328G>C)
c.432G>C (p.Glu144Asp)
c.535G>C (p.Ala179Pro)
c.*1124G>C (n.*1124G>C)
c.354G>C (p.Glu118Asp)
c.405G>C (p.Glu135Asp)
c.199G>C
n.984G>C
16g.88643536C>TCA497362239CYBAc.415G>A (p.Ala139Thr)
c.321G>A (p.Glu107=)
c.*622G>A (n.*622G>A)
c.*659G>A (n.*659G>A)
c.*328G>A (n.*328G>A)
c.432G>A (p.Glu144=)
c.535G>A (p.Ala179Thr)
c.*1124G>A (n.*1124G>A)
c.354G>A (p.Glu118=)
c.405G>A (p.Glu135=)
c.199G>A
n.984G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.88643537T>ACA397057750CYBAc.414A>T (p.Arg138=)
c.320A>T (p.Glu107Val)
c.*621A>T (n.*621A>T)
c.*658A>T (n.*658A>T)
c.*327A>T (n.*327A>T)
c.431A>T (p.Glu144Val)
c.534A>T (p.Arg178=)
c.*1123A>T (n.*1123A>T)
c.353A>T (p.Glu118Val)
c.404A>T (p.Glu135Val)
c.198A>T
n.983A>T
16g.88643537T>CCA397057754CYBAc.414A>G (p.Arg138=)
c.320A>G (p.Glu107Gly)
c.*621A>G (n.*621A>G)
c.*658A>G (n.*658A>G)
c.*327A>G (n.*327A>G)
c.431A>G (p.Glu144Gly)
c.534A>G (p.Arg178=)
c.*1123A>G (n.*1123A>G)
c.353A>G (p.Glu118Gly)
c.404A>G (p.Glu135Gly)
c.198A>G
n.983A>G
 gnomAD v4
16g.88643537T>GCA397057757CYBAc.414A>C (p.Arg138=)
c.320A>C (p.Glu107Ala)
c.*621A>C (n.*621A>C)
c.*658A>C (n.*658A>C)
c.*327A>C (n.*327A>C)
c.431A>C (p.Glu144Ala)
c.534A>C (p.Arg178=)
c.*1123A>C (n.*1123A>C)
c.353A>C (p.Glu118Ala)
c.404A>C (p.Glu135Ala)
c.198A>C
n.983A>C
16g.88643538_88647000delCA916081862CYBAc.203+102_414del
c.203+102_320del
c.203+102_*621del
c.203+102_*658del
c.203+102_*327del
c.203+102_431del
c.204-31_534del
c.203+102_*1123del
c.203+102_353del
c.203+102_404del
n.225+102_983del
 ClinVar
16g.88643538C>ACA397057762CYBAc.413G>T (p.Arg138Leu)
c.319G>T (p.Glu107Ter)
c.*620G>T (n.*620G>T)
c.*657G>T (n.*657G>T)
c.*326G>T (n.*326G>T)
c.430G>T (p.Glu144Ter)
c.533G>T (p.Arg178Leu)
c.*1122G>T (n.*1122G>T)
c.352G>T (p.Glu118Ter)
c.403G>T (p.Glu135Ter)
c.197G>T
n.982G>T
 dbSNP gnomAD v2 gnomAD v4
16g.88643538C=CA2241199720CYBAc.413G= (p.Arg138=)
c.319G= (p.Glu107=)
c.*620G= (n.*620G=)
c.*657G= (n.*657G=)
c.*326G= (n.*326G=)
c.430G= (p.Glu144=)
c.533G= (p.Arg178=)
c.*1122G= (n.*1122G=)
c.352G= (p.Glu118=)
c.403G= (p.Glu135=)
c.197G=
n.982G=
16g.88643538C>GCA397057763CYBAc.413G>C (p.Arg138Pro)
c.319G>C (p.Glu107Gln)
c.*620G>C (n.*620G>C)
c.*657G>C (n.*657G>C)
c.*326G>C (n.*326G>C)
c.430G>C (p.Glu144Gln)
c.533G>C (p.Arg178Pro)
c.*1122G>C (n.*1122G>C)
c.352G>C (p.Glu118Gln)
c.403G>C (p.Glu135Gln)
c.197G>C
n.982G>C
 ClinVar dbSNP gnomAD v4
16g.88643538C>TCA8228202CYBAc.413G>A (p.Arg138Gln)
c.319G>A (p.Glu107Lys)
c.*620G>A (n.*620G>A)
c.*657G>A (n.*657G>A)
c.*326G>A (n.*326G>A)
c.430G>A (p.Glu144Lys)
c.533G>A (p.Arg178Gln)
c.*1122G>A (n.*1122G>A)
c.352G>A (p.Glu118Lys)
c.403G>A (p.Glu135Lys)
c.197G>A
n.982G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched