Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.139373271T>ACA365876484CITED2c.674A>T (p.Glu225Val)
c.689A>T (p.Glu230Val)
c.503A>T (p.Glu168Val)
6g.139373271T>CCA365876485CITED2c.674A>G (p.Glu225Gly)
c.689A>G (p.Glu230Gly)
c.503A>G (p.Glu168Gly)
6g.139373271T>GCA365876486CITED2c.674A>C (p.Glu225Ala)
c.689A>C (p.Glu230Ala)
c.503A>C (p.Glu168Ala)
6g.139373272C>ACA365876487CITED2c.673G>T (p.Glu225Ter)
c.688G>T (p.Glu230Ter)
c.502G>T (p.Glu168Ter)
6g.139373272C>GCA365876488CITED2c.673G>C (p.Glu225Gln)
c.688G>C (p.Glu230Gln)
c.502G>C (p.Glu168Gln)
6g.139373272C>TCA365876489CITED2c.673G>A (p.Glu225Lys)
c.688G>A (p.Glu230Lys)
c.502G>A (p.Glu168Lys)
6g.139373273G>ACA452441416CITED2c.672C>T (p.Asp224=)
c.687C>T (p.Asp229=)
c.501C>T (p.Asp167=)
 dbSNP gnomAD v3 gnomAD v4
6g.139373273G>CCA365876491CITED2c.672C>G (p.Asp224Glu)
c.687C>G (p.Asp229Glu)
c.501C>G (p.Asp167Glu)
6g.139373273G=CA1667372285CITED2c.672C= (p.Asp224=)
c.687C= (p.Asp229=)
c.501C= (p.Asp167=)
6g.139373273G>TCA365876490CITED2c.672C>A (p.Asp224Glu)
c.687C>A (p.Asp229Glu)
c.501C>A (p.Asp167Glu)
6g.139373274T>ACA365876492CITED2c.671A>T (p.Asp224Val)
c.686A>T (p.Asp229Val)
c.500A>T (p.Asp167Val)
6g.139373274T>CCA365876493CITED2c.671A>G (p.Asp224Gly)
c.686A>G (p.Asp229Gly)
c.500A>G (p.Asp167Gly)
 ClinVar dbSNP
6g.139373274T>GCA365876494CITED2c.671A>C (p.Asp224Ala)
c.686A>C (p.Asp229Ala)
c.500A>C (p.Asp167Ala)
6g.139373275C>ACA365876495CITED2c.670G>T (p.Asp224Tyr)
c.685G>T (p.Asp229Tyr)
c.499G>T (p.Asp167Tyr)
6g.139373275C>GCA365876496CITED2c.670G>C (p.Asp224His)
c.685G>C (p.Asp229His)
c.499G>C (p.Asp167His)
6g.139373275C>TCA365876497CITED2c.670G>A (p.Asp224Asn)
c.685G>A (p.Asp229Asn)
c.499G>A (p.Asp167Asn)
6g.139373276G>ACA452441420CITED2c.669C>T (p.Ile223=)
c.684C>T (p.Ile228=)
c.498C>T (p.Ile166=)
 gnomAD v4
6g.139373276G>CCA365876498CITED2c.669C>G (p.Ile223Met)
c.684C>G (p.Ile228Met)
c.498C>G (p.Ile166Met)
 COSMIC
6g.139373276G>TCA452441423CITED2c.669C>A (p.Ile223=)
c.684C>A (p.Ile228=)
c.498C>A (p.Ile166=)
6g.139373277A>CCA365876499CITED2c.668T>G (p.Ile223Ser)
c.683T>G (p.Ile228Ser)
c.497T>G (p.Ile166Ser)
6g.139373277A>GCA365876500CITED2c.668T>C (p.Ile223Thr)
c.683T>C (p.Ile228Thr)
c.497T>C (p.Ile166Thr)
6g.139373277A>TCA365876501CITED2c.668T>A (p.Ile223Asn)
c.683T>A (p.Ile228Asn)
c.497T>A (p.Ile166Asn)
6g.139373278T>ACA365876502CITED2c.667A>T (p.Ile223Phe)
c.682A>T (p.Ile228Phe)
c.496A>T (p.Ile166Phe)
6g.139373278T>CCA365876503CITED2c.667A>G (p.Ile223Val)
c.682A>G (p.Ile228Val)
c.496A>G (p.Ile166Val)
 gnomAD v4
6g.139373278T>GCA365876504CITED2c.667A>C (p.Ile223Leu)
c.682A>C (p.Ile228Leu)
c.496A>C (p.Ile166Leu)
 gnomAD v4
6g.139373279G>ACA452441426CITED2c.666C>T (p.Phe222=)
c.681C>T (p.Phe227=)
c.495C>T (p.Phe165=)
 gnomAD v4
6g.139373279G>CCA365876505CITED2c.666C>G (p.Phe222Leu)
c.681C>G (p.Phe227Leu)
c.495C>G (p.Phe165Leu)
6g.139373279G=CA1667372286CITED2c.666C= (p.Phe222=)
c.681C= (p.Phe227=)
c.495C= (p.Phe165=)
6g.139373279G>TCA365876506CITED2c.666C>A (p.Phe222Leu)
c.681C>A (p.Phe227Leu)
c.495C>A (p.Phe165Leu)
 dbSNP
6g.139373280A=CA1667372287CITED2c.665T= (p.Phe222=)
c.680T= (p.Phe227=)
c.494T= (p.Phe165=)
6g.139373280A>CCA4025532CITED2c.665T>G (p.Phe222Cys)
c.680T>G (p.Phe227Cys)
c.494T>G (p.Phe165Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373280A>GCA365876507CITED2c.665T>C (p.Phe222Ser)
c.680T>C (p.Phe227Ser)
c.494T>C (p.Phe165Ser)
6g.139373280A>TCA365876508CITED2c.665T>A (p.Phe222Tyr)
c.680T>A (p.Phe227Tyr)
c.494T>A (p.Phe165Tyr)
6g.139373281A>CCA365876509CITED2c.664T>G (p.Phe222Val)
c.679T>G (p.Phe227Val)
c.493T>G (p.Phe165Val)
6g.139373281A>GCA365876510CITED2c.664T>C (p.Phe222Leu)
c.679T>C (p.Phe227Leu)
c.493T>C (p.Phe165Leu)
6g.139373281A>TCA365876511CITED2c.664T>A (p.Phe222Ile)
c.679T>A (p.Phe227Ile)
c.493T>A (p.Phe165Ile)
6g.139373282A>CCA365876512CITED2c.663T>G (p.Asp221Glu)
c.678T>G (p.Asp226Glu)
c.492T>G (p.Asp164Glu)
6g.139373282A>GCA452441435CITED2c.663T>C (p.Asp221=)
c.678T>C (p.Asp226=)
c.492T>C (p.Asp164=)
6g.139373282A>TCA365876513CITED2c.663T>A (p.Asp221Glu)
c.678T>A (p.Asp226Glu)
c.492T>A (p.Asp164Glu)
6g.139373283T>ACA365876514CITED2c.662A>T (p.Asp221Val)
c.677A>T (p.Asp226Val)
c.491A>T (p.Asp164Val)
6g.139373283T>CCA365876515CITED2c.662A>G (p.Asp221Gly)
c.677A>G (p.Asp226Gly)
c.491A>G (p.Asp164Gly)
6g.139373283T>GCA365876516CITED2c.662A>C (p.Asp221Ala)
c.677A>C (p.Asp226Ala)
c.491A>C (p.Asp164Ala)
6g.139373284C>ACA365876517CITED2c.661G>T (p.Asp221Tyr)
c.676G>T (p.Asp226Tyr)
c.490G>T (p.Asp164Tyr)
6g.139373284C=CA1667372288CITED2c.661G= (p.Asp221=)
c.676G= (p.Asp226=)
c.490G= (p.Asp164=)
6g.139373284C>GCA365876518CITED2c.661G>C (p.Asp221His)
c.676G>C (p.Asp226His)
c.490G>C (p.Asp164His)
6g.139373284C>TCA4025533CITED2c.661G>A (p.Asp221Asn)
c.676G>A (p.Asp226Asn)
c.490G>A (p.Asp164Asn)
 dbSNP ExAC
6g.139373285A=CA1667372289CITED2c.660T= (p.Thr220=)
c.675T= (p.Thr225=)
c.489T= (p.Thr163=)
6g.139373285A>CCA452441439CITED2c.660T>G (p.Thr220=)
c.675T>G (p.Thr225=)
c.489T>G (p.Thr163=)
6g.139373285A>GCA4025534CITED2c.660T>C (p.Thr220=)
c.675T>C (p.Thr225=)
c.489T>C (p.Thr163=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373285A>TCA452441441CITED2c.660T>A (p.Thr220=)
c.675T>A (p.Thr225=)
c.489T>A (p.Thr163=)
6g.139373286G>ACA148813787CITED2c.659C>T (p.Thr220Ile)
c.674C>T (p.Thr225Ile)
c.488C>T (p.Thr163Ile)
 dbSNP gnomAD v4
6g.139373286G>CCA365876519CITED2c.659C>G (p.Thr220Ser)
c.674C>G (p.Thr225Ser)
c.488C>G (p.Thr163Ser)
6g.139373286G=CA1667372290CITED2c.659C= (p.Thr220=)
c.674C= (p.Thr225=)
c.488C= (p.Thr163=)
6g.139373286G>TCA365876520CITED2c.659C>A (p.Thr220Asn)
c.674C>A (p.Thr225Asn)
c.488C>A (p.Thr163Asn)
 gnomAD v4
6g.139373287T>ACA365876521CITED2c.658A>T (p.Thr220Ser)
c.673A>T (p.Thr225Ser)
c.487A>T (p.Thr163Ser)
6g.139373287T>CCA365876522CITED2c.658A>G (p.Thr220Ala)
c.673A>G (p.Thr225Ala)
c.487A>G (p.Thr163Ala)
 gnomAD v4
6g.139373287T>GCA365876523CITED2c.658A>C (p.Thr220Pro)
c.673A>C (p.Thr225Pro)
c.487A>C (p.Thr163Pro)
6g.139373288G>ACA4025535CITED2c.657C>T (p.Asp219=)
c.672C>T (p.Asp224=)
c.486C>T (p.Asp162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373288G>CCA365876524CITED2c.657C>G (p.Asp219Glu)
c.672C>G (p.Asp224Glu)
c.486C>G (p.Asp162Glu)
6g.139373288G=CA1667372291CITED2c.657C= (p.Asp219=)
c.672C= (p.Asp224=)
c.486C= (p.Asp162=)
6g.139373288G>TCA365876525CITED2c.657C>A (p.Asp219Glu)
c.672C>A (p.Asp224Glu)
c.486C>A (p.Asp162Glu)
6g.139373289T>ACA365876526CITED2c.656A>T (p.Asp219Val)
c.671A>T (p.Asp224Val)
c.485A>T (p.Asp162Val)
6g.139373289T>CCA365876527CITED2c.656A>G (p.Asp219Gly)
c.671A>G (p.Asp224Gly)
c.485A>G (p.Asp162Gly)
6g.139373289T>GCA365876528CITED2c.656A>C (p.Asp219Ala)
c.671A>C (p.Asp224Ala)
c.485A>C (p.Asp162Ala)
6g.139373290C>ACA365876530CITED2c.655G>T (p.Asp219Tyr)
c.670G>T (p.Asp224Tyr)
c.484G>T (p.Asp162Tyr)
6g.139373290C=CA1667372292CITED2c.655G= (p.Asp219=)
c.670G= (p.Asp224=)
c.484G= (p.Asp162=)
6g.139373290C>GCA4025536CITED2c.655G>C (p.Asp219His)
c.670G>C (p.Asp224His)
c.484G>C (p.Asp162His)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373290C>TCA365876529CITED2c.655G>A (p.Asp219Asn)
c.670G>A (p.Asp224Asn)
c.484G>A (p.Asp162Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.139373291T>ACA452441453CITED2c.654A>T (p.Ile218=)
c.669A>T (p.Ile223=)
c.483A>T (p.Ile161=)
6g.139373291T>CCA365876531CITED2c.654A>G (p.Ile218Met)
c.669A>G (p.Ile223Met)
c.483A>G (p.Ile161Met)
6g.139373291T>GCA452441455CITED2c.654A>C (p.Ile218=)
c.669A>C (p.Ile223=)
c.483A>C (p.Ile161=)
6g.139373292A>CCA365876534CITED2c.653T>G (p.Ile218Arg)
c.668T>G (p.Ile223Arg)
c.482T>G (p.Ile161Arg)
6g.139373292A>GCA365876532CITED2c.653T>C (p.Ile218Thr)
c.668T>C (p.Ile223Thr)
c.482T>C (p.Ile161Thr)
 gnomAD v4
6g.139373292A>TCA365876533CITED2c.653T>A (p.Ile218Lys)
c.668T>A (p.Ile223Lys)
c.482T>A (p.Ile161Lys)
6g.139373293T>ACA365876535CITED2c.652A>T (p.Ile218Leu)
c.667A>T (p.Ile223Leu)
c.481A>T (p.Ile161Leu)
6g.139373293T>CCA365876536CITED2c.652A>G (p.Ile218Val)
c.667A>G (p.Ile223Val)
c.481A>G (p.Ile161Val)
 dbSNP gnomAD v4
6g.139373293T>GCA365876537CITED2c.652A>C (p.Ile218Leu)
c.667A>C (p.Ile223Leu)
c.481A>C (p.Ile161Leu)
6g.139373293T=CA1667372293CITED2c.652A= (p.Ile218=)
c.667A= (p.Ile223=)
c.481A= (p.Ile161=)
6g.139373294G>ACA452441458CITED2c.651C>T (p.Val217=)
c.666C>T (p.Val222=)
c.480C>T (p.Val160=)
 gnomAD v4
6g.139373294G>CCA452441459CITED2c.651C>G (p.Val217=)
c.666C>G (p.Val222=)
c.480C>G (p.Val160=)
 gnomAD v4
6g.139373294G>TCA452441461CITED2c.651C>A (p.Val217=)
c.666C>A (p.Val222=)
c.480C>A (p.Val160=)
 gnomAD v4
6g.139373295A>CCA365876538CITED2c.650T>G (p.Val217Gly)
c.665T>G (p.Val222Gly)
c.479T>G (p.Val160Gly)
6g.139373295A>GCA365876539CITED2c.650T>C (p.Val217Ala)
c.665T>C (p.Val222Ala)
c.479T>C (p.Val160Ala)
6g.139373295A>TCA365876540CITED2c.650T>A (p.Val217Asp)
c.665T>A (p.Val222Asp)
c.479T>A (p.Val160Asp)
6g.139373296C>ACA365876541CITED2c.649G>T (p.Val217Phe)
c.664G>T (p.Val222Phe)
c.478G>T (p.Val160Phe)
6g.139373296C=CA1667372294CITED2c.649G= (p.Val217=)
c.664G= (p.Val222=)
c.478G= (p.Val160=)
6g.139373296C>GCA365876542CITED2c.649G>C (p.Val217Leu)
c.664G>C (p.Val222Leu)
c.478G>C (p.Val160Leu)
6g.139373296C>TCA148813788CITED2c.649G>A (p.Val217Ile)
c.664G>A (p.Val222Ile)
c.478G>A (p.Val160Ile)
 dbSNP gnomAD v4
6g.139373297A=CA1667372295CITED2c.648T= (p.Asn216=)
c.663T= (p.Asn221=)
c.477T= (p.Asn159=)
6g.139373297A>CCA365876544CITED2c.648T>G (p.Asn216Lys)
c.663T>G (p.Asn221Lys)
c.477T>G (p.Asn159Lys)
6g.139373297A>GCA4025537CITED2c.648T>C (p.Asn216=)
c.663T>C (p.Asn221=)
c.477T>C (p.Asn159=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373297A>TCA365876543CITED2c.648T>A (p.Asn216Lys)
c.663T>A (p.Asn221Lys)
c.477T>A (p.Asn159Lys)
6g.139373298T>ACA365876545CITED2c.647A>T (p.Asn216Ile)
c.662A>T (p.Asn221Ile)
c.477-1A>T (n.477-1A>T)
6g.139373298T>CCA4025538CITED2c.647A>G (p.Asn216Ser)
c.662A>G (p.Asn221Ser)
c.477-1A>G (n.477-1A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373298T>GCA365876546CITED2c.647A>C (p.Asn216Thr)
c.662A>C (p.Asn221Thr)
c.477-1A>C (n.477-1A>C)
6g.139373298T=CA1667372296CITED2c.647A= (p.Asn216=)
c.662A= (p.Asn221=)
c.477-1A= (n.477-1A=)
6g.139373299T>ACA365876547CITED2c.646A>T (p.Asn216Tyr)
c.661A>T (p.Asn221Tyr)
c.477-2A>T (n.477-2A>T)
6g.139373299T>CCA365876548CITED2c.646A>G (p.Asn216Asp)
c.661A>G (p.Asn221Asp)
c.477-2A>G (n.477-2A>G)
6g.139373299T>GCA365876549CITED2c.646A>C (p.Asn216His)
c.661A>C (p.Asn221His)
c.477-2A>C (n.477-2A>C)
6g.139373300G>ACA452441471CITED2c.645C>T (p.Pro215=)
c.660C>T (p.Pro220=)
c.477-3C>T (n.477-3C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373300G>CCA452441474CITED2c.645C>G (p.Pro215=)
c.660C>G (p.Pro220=)
c.477-3C>G (n.477-3C>G)
6g.139373300G=CA1667372297CITED2c.645C= (p.Pro215=)
c.660C= (p.Pro220=)
c.477-3C= (n.477-3C=)
6g.139373300G>TCA452441473CITED2c.645C>A (p.Pro215=)
c.660C>A (p.Pro220=)
c.477-3C>A (n.477-3C>A)
6g.139373301G>ACA365876550CITED2c.644C>T (p.Pro215Leu)
c.659C>T (p.Pro220Leu)
c.477-4C>T (n.477-4C>T)
 gnomAD v4
6g.139373301G>CCA365876551CITED2c.644C>G (p.Pro215Arg)
c.659C>G (p.Pro220Arg)
c.477-4C>G (n.477-4C>G)
6g.139373301G>TCA365876552CITED2c.644C>A (p.Pro215His)
c.659C>A (p.Pro220His)
c.477-4C>A (n.477-4C>A)
6g.139373302G>ACA365876553CITED2c.643C>T (p.Pro215Ser)
c.658C>T (p.Pro220Ser)
c.477-5C>T (n.477-5C>T)
6g.139373302G>CCA365876554CITED2c.643C>G (p.Pro215Ala)
c.658C>G (p.Pro220Ala)
c.477-5C>G (n.477-5C>G)
6g.139373302G>TCA365876555CITED2c.643C>A (p.Pro215Thr)
c.658C>A (p.Pro220Thr)
c.477-5C>A (n.477-5C>A)
6g.139373303C>ACA452441480CITED2c.642G>T (p.Pro214=)
c.657G>T (p.Pro219=)
c.477-6G>T (n.477-6G>T)
 gnomAD v4
6g.139373303C>GCA452441482CITED2c.642G>C (p.Pro214=)
c.657G>C (p.Pro219=)
c.477-6G>C (n.477-6G>C)
6g.139373303C>TCA452441484CITED2c.642G>A (p.Pro214=)
c.657G>A (p.Pro219=)
c.477-6G>A (n.477-6G>A)
 gnomAD v4
6g.139373304G>ACA365876557CITED2c.641C>T (p.Pro214Leu)
c.656C>T (p.Pro219Leu)
c.477-7C>T (n.477-7C>T)
 dbSNP gnomAD v4
6g.139373304G>CCA365876558CITED2c.641C>G (p.Pro214Arg)
c.656C>G (p.Pro219Arg)
c.477-7C>G (n.477-7C>G)
 gnomAD v4
6g.139373304G=CA1667372298CITED2c.641C= (p.Pro214=)
c.656C= (p.Pro219=)
c.477-7C= (n.477-7C=)
6g.139373304G>TCA365876556CITED2c.641C>A (p.Pro214Gln)
c.656C>A (p.Pro219Gln)
c.477-7C>A (n.477-7C>A)
6g.139373305G>ACA365876559CITED2c.640C>T (p.Pro214Ser)
c.655C>T (p.Pro219Ser)
c.477-8C>T (n.477-8C>T)
6g.139373305G>CCA365876560CITED2c.640C>G (p.Pro214Ala)
c.655C>G (p.Pro219Ala)
c.477-8C>G (n.477-8C>G)
 gnomAD v4
6g.139373305G>TCA365876561CITED2c.640C>A (p.Pro214Thr)
c.655C>A (p.Pro219Thr)
c.477-8C>A (n.477-8C>A)
6g.139373306C>ACA452441488CITED2c.639G>T (p.Leu213=)
c.654G>T (p.Leu218=)
c.477-9G>T (n.477-9G>T)
 gnomAD v4
6g.139373306C>GCA452441489CITED2c.639G>C (p.Leu213=)
c.654G>C (p.Leu218=)
c.477-9G>C (n.477-9G>C)
6g.139373306C>TCA452441490CITED2c.639G>A (p.Leu213=)
c.654G>A (p.Leu218=)
c.477-9G>A (n.477-9G>A)
6g.139373307A>CCA365876562CITED2c.638T>G (p.Leu213Arg)
c.653T>G (p.Leu218Arg)
c.477-10T>G (n.477-10T>G)
6g.139373307A>GCA365876563CITED2c.638T>C (p.Leu213Pro)
c.653T>C (p.Leu218Pro)
c.477-10T>C (n.477-10T>C)
6g.139373307A>TCA365876564CITED2c.638T>A (p.Leu213Gln)
c.653T>A (p.Leu218Gln)
c.477-10T>A (n.477-10T>A)
6g.139373308G>ACA452441491CITED2c.637C>T (p.Leu213=)
c.652C>T (p.Leu218=)
c.477-11C>T (n.477-11C>T)
 gnomAD v4
6g.139373308G>CCA365876566CITED2c.637C>G (p.Leu213Val)
c.652C>G (p.Leu218Val)
c.477-11C>G (n.477-11C>G)
 gnomAD v4
6g.139373308G>TCA365876565CITED2c.637C>A (p.Leu213Met)
c.652C>A (p.Leu218Met)
c.477-11C>A (n.477-11C>A)
6g.139373309C>ACA365876567CITED2c.636G>T (p.Met212Ile)
c.651G>T (p.Met217Ile)
c.477-12G>T (n.477-12G>T)
6g.139373309C>GCA365876568CITED2c.636G>C (p.Met212Ile)
c.651G>C (p.Met217Ile)
c.477-12G>C (n.477-12G>C)
6g.139373309C>TCA365876569CITED2c.636G>A (p.Met212Ile)
c.651G>A (p.Met217Ile)
c.477-12G>A (n.477-12G>A)
 gnomAD v4
6g.139373310A=CA1667372299CITED2c.635T= (p.Met212=)
c.650T= (p.Met217=)
c.477-13T= (n.477-13T=)
6g.139373310A>CCA148813789CITED2c.635T>G (p.Met212Arg)
c.650T>G (p.Met217Arg)
c.477-13T>G (n.477-13T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.139373310A>GCA365876570CITED2c.635T>C (p.Met212Thr)
c.650T>C (p.Met217Thr)
c.477-13T>C (n.477-13T>C)
6g.139373310A>TCA365876571CITED2c.635T>A (p.Met212Lys)
c.650T>A (p.Met217Lys)
c.477-13T>A (n.477-13T>A)
6g.139373311T>ACA365876572CITED2c.634A>T (p.Met212Leu)
c.649A>T (p.Met217Leu)
c.477-14A>T (n.477-14A>T)
6g.139373311T>CCA4025539CITED2c.634A>G (p.Met212Val)
c.649A>G (p.Met217Val)
c.477-14A>G (n.477-14A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373311T>GCA365876573CITED2c.634A>C (p.Met212Leu)
c.649A>C (p.Met217Leu)
c.477-14A>C (n.477-14A>C)
6g.139373311T=CA1667372300CITED2c.634A= (p.Met212=)
c.649A= (p.Met217=)
c.477-14A= (n.477-14A=)
6g.139373312T>ACA452441496CITED2c.633A>T (p.Ala211=)
c.648A>T (p.Ala216=)
c.477-15A>T (n.477-15A>T)
6g.139373312T>CCA148813790CITED2c.633A>G (p.Ala211=)
c.648A>G (p.Ala216=)
c.477-15A>G (n.477-15A>G)
 dbSNP
6g.139373312T>GCA452441497CITED2c.633A>C (p.Ala211=)
c.648A>C (p.Ala216=)
c.477-15A>C (n.477-15A>C)
6g.139373312T=CA1667372301CITED2c.633A= (p.Ala211=)
c.648A= (p.Ala216=)
c.477-15A= (n.477-15A=)
6g.139373313G>ACA365876574CITED2c.632C>T (p.Ala211Val)
c.647C>T (p.Ala216Val)
c.477-16C>T (n.477-16C>T)
6g.139373313G>CCA365876575CITED2c.632C>G (p.Ala211Gly)
c.647C>G (p.Ala216Gly)
c.477-16C>G (n.477-16C>G)
6g.139373313G>TCA365876576CITED2c.632C>A (p.Ala211Glu)
c.647C>A (p.Ala216Glu)
c.477-16C>A (n.477-16C>A)
6g.139373314C>ACA365876577CITED2c.631G>T (p.Ala211Ser)
c.646G>T (p.Ala216Ser)
c.477-17G>T (n.477-17G>T)
6g.139373314C>GCA365876578CITED2c.631G>C (p.Ala211Pro)
c.646G>C (p.Ala216Pro)
c.477-17G>C (n.477-17G>C)
6g.139373314C>TCA365876579CITED2c.631G>A (p.Ala211Thr)
c.646G>A (p.Ala216Thr)
c.477-17G>A (n.477-17G>A)
 gnomAD v4
6g.139373315A=CA1667372303CITED2c.630T= (p.Ala210=)
c.645T= (p.Ala215=)
c.477-18T= (n.477-18T=)
6g.139373315A>CCA4025540CITED2c.630T>G (p.Ala210=)
c.645T>G (p.Ala215=)
c.477-18T>G (n.477-18T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373315A>GCA452441501CITED2c.630T>C (p.Ala210=)
c.645T>C (p.Ala215=)
c.477-18T>C (n.477-18T>C)
6g.139373315A>TCA452441502CITED2c.630T>A (p.Ala210=)
c.645T>A (p.Ala215=)
c.477-18T>A (n.477-18T>A)
6g.139373315_139373316delinsAGCA1667372302CITED2c.629_630delinsCT (p.Ala210=)
c.644_645delinsCT (p.Ala215=)
c.477-19_477-18delinsCT (n.477-19_477-18delinsCT)
6g.139373315_139373316delinsCCCA148813791CITED2c.629_630delinsGG (p.Ala210Gly)
c.644_645delinsGG (p.Ala215Gly)
c.477-19_477-18delinsGG (n.477-19_477-18delinsGG)
 dbSNP
6g.139373316G>ACA365876580CITED2c.629C>T (p.Ala210Val)
c.644C>T (p.Ala215Val)
c.477-19C>T (n.477-19C>T)
6g.139373316G>CCA4025541CITED2c.629C>G (p.Ala210Gly)
c.644C>G (p.Ala215Gly)
c.477-19C>G (n.477-19C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373316G=CA1667372304CITED2c.629C= (p.Ala210=)
c.644C= (p.Ala215=)
c.477-19C= (n.477-19C=)
6g.139373316G>TCA365876581CITED2c.629C>A (p.Ala210Asp)
c.644C>A (p.Ala215Asp)
c.477-19C>A (n.477-19C>A)
6g.139373317C>ACA365876582CITED2c.628G>T (p.Ala210Ser)
c.643G>T (p.Ala215Ser)
c.477-20G>T (n.477-20G>T)
6g.139373317C=CA1667372305CITED2c.628G= (p.Ala210=)
c.643G= (p.Ala215=)
c.477-20G= (n.477-20G=)
6g.139373317C>GCA365876583CITED2c.628G>C (p.Ala210Pro)
c.643G>C (p.Ala215Pro)
c.477-20G>C (n.477-20G>C)
 gnomAD v4
6g.139373317C>TCA4025542CITED2c.628G>A (p.Ala210Thr)
c.643G>A (p.Ala215Thr)
c.477-20G>A (n.477-20G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373318G>ACA4025543CITED2c.627C>T (p.Pro209=)
c.642C>T (p.Pro214=)
c.477-21C>T (n.477-21C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373318G>CCA4025544CITED2c.627C>G (p.Pro209=)
c.642C>G (p.Pro214=)
c.477-21C>G (n.477-21C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373318G=CA1667372306CITED2c.627C= (p.Pro209=)
c.642C= (p.Pro214=)
c.477-21C= (n.477-21C=)
6g.139373318G>TCA452441505CITED2c.627C>A (p.Pro209=)
c.642C>A (p.Pro214=)
c.477-21C>A (n.477-21C>A)
 COSMIC
6g.139373319G>ACA4025545CITED2c.626C>T (p.Pro209Leu)
c.641C>T (p.Pro214Leu)
c.477-22C>T (n.477-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373319G>CCA365876585CITED2c.626C>G (p.Pro209Arg)
c.641C>G (p.Pro214Arg)
c.477-22C>G (n.477-22C>G)
6g.139373319G=CA1667372307CITED2c.626C= (p.Pro209=)
c.641C= (p.Pro214=)
c.477-22C= (n.477-22C=)
6g.139373319G>TCA365876584CITED2c.626C>A (p.Pro209His)
c.641C>A (p.Pro214His)
c.477-22C>A (n.477-22C>A)
6g.139373320G>ACA365876586CITED2c.625C>T (p.Pro209Ser)
c.640C>T (p.Pro214Ser)
c.477-23C>T (n.477-23C>T)
6g.139373320G>CCA365876587CITED2c.625C>G (p.Pro209Ala)
c.640C>G (p.Pro214Ala)
c.477-23C>G (n.477-23C>G)
 gnomAD v4
6g.139373320G>TCA365876588CITED2c.625C>A (p.Pro209Thr)
c.640C>A (p.Pro214Thr)
c.477-23C>A (n.477-23C>A)
6g.139373321G>ACA452441506CITED2c.624C>T (p.Val208=)
c.639C>T (p.Val213=)
c.477-24C>T (n.477-24C>T)
6g.139373321G>CCA4025546CITED2c.624C>G (p.Val208=)
c.639C>G (p.Val213=)
c.477-24C>G (n.477-24C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373321G=CA1667372308CITED2c.624C= (p.Val208=)
c.639C= (p.Val213=)
c.477-24C= (n.477-24C=)
6g.139373321G>TCA452441507CITED2c.624C>A (p.Val208=)
c.639C>A (p.Val213=)
c.477-24C>A (n.477-24C>A)
6g.139373322A>CCA365876589CITED2c.623T>G (p.Val208Gly)
c.638T>G (p.Val213Gly)
c.477-25T>G (n.477-25T>G)
6g.139373322A>GCA365876590CITED2c.623T>C (p.Val208Ala)
c.638T>C (p.Val213Ala)
c.477-25T>C (n.477-25T>C)
6g.139373322A>TCA365876591CITED2c.623T>A (p.Val208Asp)
c.638T>A (p.Val213Asp)
c.477-25T>A (n.477-25T>A)
6g.139373323C>ACA365876592CITED2c.622G>T (p.Val208Phe)
c.637G>T (p.Val213Phe)
c.477-26G>T (n.477-26G>T)
6g.139373323C>GCA365876593CITED2c.622G>C (p.Val208Leu)
c.637G>C (p.Val213Leu)
c.477-26G>C (n.477-26G>C)
6g.139373323C>TCA365876594CITED2c.622G>A (p.Val208Ile)
c.637G>A (p.Val213Ile)
c.477-26G>A (n.477-26G>A)
6g.139373324G>ACA4025547CITED2c.621C>T (p.His207=)
c.636C>T (p.His212=)
c.477-27C>T (n.477-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373324G>CCA365876595CITED2c.621C>G (p.His207Gln)
c.636C>G (p.His212Gln)
c.477-27C>G (n.477-27C>G)
 gnomAD v4
6g.139373324G=CA1667372309CITED2c.621C= (p.His207=)
c.636C= (p.His212=)
c.477-27C= (n.477-27C=)
6g.139373324G>TCA365876596CITED2c.621C>A (p.His207Gln)
c.636C>A (p.His212Gln)
c.477-27C>A (n.477-27C>A)
 gnomAD v4
6g.139373325T>ACA365876598CITED2c.620A>T (p.His207Leu)
c.635A>T (p.His212Leu)
c.477-28A>T (n.477-28A>T)
6g.139373325T>CCA4025548CITED2c.620A>G (p.His207Arg)
c.635A>G (p.His212Arg)
c.477-28A>G (n.477-28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373325T>GCA365876597CITED2c.620A>C (p.His207Pro)
c.635A>C (p.His212Pro)
c.477-28A>C (n.477-28A>C)
6g.139373325T=CA1667372310CITED2c.620A= (p.His207=)
c.635A= (p.His212=)
c.477-28A= (n.477-28A=)
6g.139373326G>ACA365876599CITED2c.619C>T (p.His207Tyr)
c.634C>T (p.His212Tyr)
c.477-29C>T (n.477-29C>T)
 gnomAD v4
6g.139373326G>CCA365876600CITED2c.619C>G (p.His207Asp)
c.634C>G (p.His212Asp)
c.477-29C>G (n.477-29C>G)
6g.139373326G>TCA365876601CITED2c.619C>A (p.His207Asn)
c.634C>A (p.His212Asn)
c.477-29C>A (n.477-29C>A)
6g.139373327G>ACA452441519CITED2c.618C>T (p.Ala206=)
c.633C>T (p.Ala211=)
c.477-30C>T (n.477-30C>T)
6g.139373327G>CCA452441521CITED2c.618C>G (p.Ala206=)
c.633C>G (p.Ala211=)
c.477-30C>G (n.477-30C>G)
 dbSNP
6g.139373327G=CA1667372311CITED2c.618C= (p.Ala206=)
c.633C= (p.Ala211=)
c.477-30C= (n.477-30C=)
6g.139373327G>TCA452441523CITED2c.618C>A (p.Ala206=)
c.633C>A (p.Ala211=)
c.477-30C>A (n.477-30C>A)
6g.139373328G>ACA4025549CITED2c.617C>T (p.Ala206Val)
c.632C>T (p.Ala211Val)
c.477-31C>T (n.477-31C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373328G>CCA365876602CITED2c.617C>G (p.Ala206Gly)
c.632C>G (p.Ala211Gly)
c.477-31C>G (n.477-31C>G)
6g.139373328G=CA1667372312CITED2c.617C= (p.Ala206=)
c.632C= (p.Ala211=)
c.477-31C= (n.477-31C=)
6g.139373328G>TCA365876603CITED2c.617C>A (p.Ala206Asp)
c.632C>A (p.Ala211Asp)
c.477-31C>A (n.477-31C>A)
6g.139373329C>ACA365876604CITED2c.616G>T (p.Ala206Ser)
c.631G>T (p.Ala211Ser)
c.477-32G>T (n.477-32G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373329C=CA1667372313CITED2c.616G= (p.Ala206=)
c.631G= (p.Ala211=)
c.477-32G= (n.477-32G=)
6g.139373329C>GCA365876605CITED2c.616G>C (p.Ala206Pro)
c.631G>C (p.Ala211Pro)
c.477-32G>C (n.477-32G>C)
6g.139373329C>TCA4025550CITED2c.616G>A (p.Ala206Thr)
c.631G>A (p.Ala211Thr)
c.477-32G>A (n.477-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373330C>ACA452441525CITED2c.615G>T (p.Val205=)
c.630G>T (p.Val210=)
c.477-33G>T (n.477-33G>T)
6g.139373330C=CA1667372314CITED2c.615G= (p.Val205=)
c.630G= (p.Val210=)
c.477-33G= (n.477-33G=)
6g.139373330C>GCA452441528CITED2c.615G>C (p.Val205=)
c.630G>C (p.Val210=)
c.477-33G>C (n.477-33G>C)
6g.139373330C>TCA4025551CITED2c.615G>A (p.Val205=)
c.630G>A (p.Val210=)
c.477-33G>A (n.477-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373331A>CCA365876606CITED2c.614T>G (p.Val205Gly)
c.629T>G (p.Val210Gly)
c.477-34T>G (n.477-34T>G)
6g.139373331A>GCA365876607CITED2c.614T>C (p.Val205Ala)
c.629T>C (p.Val210Ala)
c.477-34T>C (n.477-34T>C)
6g.139373331A>TCA365876608CITED2c.614T>A (p.Val205Glu)
c.629T>A (p.Val210Glu)
c.477-34T>A (n.477-34T>A)
6g.139373332C>ACA365876610CITED2c.613G>T (p.Val205Leu)
c.628G>T (p.Val210Leu)
c.477-35G>T (n.477-35G>T)
6g.139373332C>GCA365876611CITED2c.613G>C (p.Val205Leu)
c.628G>C (p.Val210Leu)
c.477-35G>C (n.477-35G>C)
6g.139373332C>TCA365876609CITED2c.613G>A (p.Val205Met)
c.628G>A (p.Val210Met)
c.477-35G>A (n.477-35G>A)
 gnomAD v4
6g.139373333G>ACA4025552CITED2c.612C>T (p.Ser204=)
c.627C>T (p.Ser209=)
c.477-36C>T (n.477-36C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373333G>CCA452441538CITED2c.612C>G (p.Ser204=)
c.627C>G (p.Ser209=)
c.477-36C>G (n.477-36C>G)
 gnomAD v4
6g.139373333G=CA1667372315CITED2c.612C= (p.Ser204=)
c.627C= (p.Ser209=)
c.477-36C= (n.477-36C=)
6g.139373333G>TCA148813792CITED2c.612C>A (p.Ser204=)
c.627C>A (p.Ser209=)
c.477-36C>A (n.477-36C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373334G>ACA365876612CITED2c.611C>T (p.Ser204Phe)
c.626C>T (p.Ser209Phe)
c.477-37C>T (n.477-37C>T)
6g.139373334G>CCA4025553CITED2c.611C>G (p.Ser204Cys)
c.626C>G (p.Ser209Cys)
c.477-37C>G (n.477-37C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373334G=CA1667372316CITED2c.611C= (p.Ser204=)
c.626C= (p.Ser209=)
c.477-37C= (n.477-37C=)
6g.139373334G>TCA365876613CITED2c.611C>A (p.Ser204Tyr)
c.626C>A (p.Ser209Tyr)
c.477-37C>A (n.477-37C>A)
6g.139373335A>CCA365876614CITED2c.610T>G (p.Ser204Ala)
c.625T>G (p.Ser209Ala)
c.477-38T>G (n.477-38T>G)
6g.139373335A>GCA365876615CITED2c.610T>C (p.Ser204Pro)
c.625T>C (p.Ser209Pro)
c.477-38T>C (n.477-38T>C)
6g.139373335A>TCA365876616CITED2c.610T>A (p.Ser204Thr)
c.625T>A (p.Ser209Thr)
c.477-38T>A (n.477-38T>A)
6g.139373336G>ACA452441548CITED2c.609C>T (p.Ala203=)
c.624C>T (p.Ala208=)
c.477-39C>T (n.477-39C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373336G>CCA452441550CITED2c.609C>G (p.Ala203=)
c.624C>G (p.Ala208=)
c.477-39C>G (n.477-39C>G)
6g.139373336G=CA1667372317CITED2c.609C= (p.Ala203=)
c.624C= (p.Ala208=)
c.477-39C= (n.477-39C=)
6g.139373336G>TCA452441552CITED2c.609C>A (p.Ala203=)
c.624C>A (p.Ala208=)
c.477-39C>A (n.477-39C>A)
 gnomAD v4
6g.139373337G>ACA4025554CITED2c.608C>T (p.Ala203Val)
c.623C>T (p.Ala208Val)
c.477-40C>T (n.477-40C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373337G>CCA365876617CITED2c.608C>G (p.Ala203Gly)
c.623C>G (p.Ala208Gly)
c.477-40C>G (n.477-40C>G)
 gnomAD v4
6g.139373337G=CA1667372318CITED2c.608C= (p.Ala203=)
c.623C= (p.Ala208=)
c.477-40C= (n.477-40C=)
6g.139373337G>TCA365876618CITED2c.608C>A (p.Ala203Asp)
c.623C>A (p.Ala208Asp)
c.477-40C>A (n.477-40C>A)
6g.139373338C>ACA365876619CITED2c.607G>T (p.Ala203Ser)
c.622G>T (p.Ala208Ser)
c.477-41G>T (n.477-41G>T)
 dbSNP
6g.139373338C=CA1667372319CITED2c.607G= (p.Ala203=)
c.622G= (p.Ala208=)
c.477-41G= (n.477-41G=)
6g.139373338C>GCA365876620CITED2c.607G>C (p.Ala203Pro)
c.622G>C (p.Ala208Pro)
c.477-41G>C (n.477-41G>C)
6g.139373338C>TCA365876621CITED2c.607G>A (p.Ala203Thr)
c.622G>A (p.Ala208Thr)
c.477-41G>A (n.477-41G>A)
 gnomAD v4
6g.139373339G>ACA452441556CITED2c.606C>T (p.Pro202=)
c.621C>T (p.Pro207=)
c.477-42C>T (n.477-42C>T)
6g.139373339G>CCA4025555CITED2c.606C>G (p.Pro202=)
c.621C>G (p.Pro207=)
c.477-42C>G (n.477-42C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373339G=CA1667372320CITED2c.606C= (p.Pro202=)
c.621C= (p.Pro207=)
c.477-42C= (n.477-42C=)
6g.139373339G>TCA452441558CITED2c.606C>A (p.Pro202=)
c.621C>A (p.Pro207=)
c.477-42C>A (n.477-42C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373340G>ACA365876622CITED2c.605C>T (p.Pro202Leu)
c.620C>T (p.Pro207Leu)
c.477-43C>T (n.477-43C>T)
 dbSNP gnomAD v2
6g.139373340G>CCA365876623CITED2c.605C>G (p.Pro202Arg)
c.620C>G (p.Pro207Arg)
c.477-43C>G (n.477-43C>G)
 dbSNP gnomAD v4
6g.139373340G=CA1667372321CITED2c.605C= (p.Pro202=)
c.620C= (p.Pro207=)
c.477-43C= (n.477-43C=)
6g.139373340G>TCA365876624CITED2c.605C>A (p.Pro202His)
c.620C>A (p.Pro207His)
c.477-43C>A (n.477-43C>A)
6g.139373341G>ACA365876625CITED2c.604C>T (p.Pro202Ser)
c.619C>T (p.Pro207Ser)
c.477-44C>T (n.477-44C>T)
 gnomAD v4
6g.139373341G>CCA365876626CITED2c.604C>G (p.Pro202Ala)
c.619C>G (p.Pro207Ala)
c.477-44C>G (n.477-44C>G)
6g.139373341G=CA1667372322CITED2c.604C= (p.Pro202=)
c.619C= (p.Pro207=)
c.477-44C= (n.477-44C=)
6g.139373341G>TCA4025556CITED2c.604C>A (p.Pro202Thr)
c.619C>A (p.Pro207Thr)
c.477-44C>A (n.477-44C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373342C>ACA365876627CITED2c.603G>T (p.Met201Ile)
c.618G>T (p.Met206Ile)
c.477-45G>T (n.477-45G>T)
 gnomAD v4
6g.139373342C=CA1667372323CITED2c.603G= (p.Met201=)
c.618G= (p.Met206=)
c.477-45G= (n.477-45G=)
6g.139373342C>GCA365876628CITED2c.603G>C (p.Met201Ile)
c.618G>C (p.Met206Ile)
c.477-45G>C (n.477-45G>C)
6g.139373342C>TCA365876629CITED2c.603G>A (p.Met201Ile)
c.618G>A (p.Met206Ile)
c.477-45G>A (n.477-45G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.139373343A>CCA365876630CITED2c.602T>G (p.Met201Arg)
c.617T>G (p.Met206Arg)
c.477-46T>G (n.477-46T>G)
6g.139373343A>GCA365876631CITED2c.602T>C (p.Met201Thr)
c.617T>C (p.Met206Thr)
c.477-46T>C (n.477-46T>C)
 gnomAD v4
6g.139373343A>TCA365876632CITED2c.602T>A (p.Met201Lys)
c.617T>A (p.Met206Lys)
c.477-46T>A (n.477-46T>A)
6g.139373343_139373370delinsATGTTGCCGCTGCCGCTGCCGCCGCCGCCA1667372324CITED2c.575_602delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (p.Ser192=)
c.590_617delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (p.Ser197=)
c.477-73_477-46delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT (n.477-73_477-46delinsGCGGCGGCGGCAGCGGCAGCGGCAACAT)
6g.139373344T>ACA365876635CITED2c.601A>T (p.Met201Leu)
c.616A>T (p.Met206Leu)
c.477-47A>T (n.477-47A>T)
6g.139373344T>CCA365876634CITED2c.601A>G (p.Met201Val)
c.616A>G (p.Met206Val)
c.477-47A>G (n.477-47A>G)
 dbSNP gnomAD v4
6g.139373344T>GCA365876633CITED2c.601A>C (p.Met201Leu)
c.616A>C (p.Met206Leu)
c.477-47A>C (n.477-47A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.139373344T=CA1667372325CITED2c.601A= (p.Met201=)
c.616A= (p.Met206=)
c.477-47A= (n.477-47A=)
6g.139373350_139373376dupCA2680562547CITED2c.575_601dup (p.Asn200_Met201insSerGlyGlyGlySerGlySerGlyAsn)
c.590_616dup (p.Asn205_Met206insSerGlyGlyGlySerGlySerGlyAsn)
c.477-73_477-47dup (n.477-73_477-47dup)
 gnomAD v4
6g.139373350_139373376delCA4025557CITED2c.575_601del (p.Ser192_Asn200del)
c.590_616del (p.Ser197_Asn205del)
c.477-73_477-47del (n.477-73_477-47del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373345G>ACA4025559CITED2c.600C>T (p.Asn200=)
c.615C>T (p.Asn205=)
c.477-48C>T (n.477-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373345G>CCA365876637CITED2c.600C>G (p.Asn200Lys)
c.615C>G (p.Asn205Lys)
c.477-48C>G (n.477-48C>G)
6g.139373345G=CA1667372326CITED2c.600C= (p.Asn200=)
c.615C= (p.Asn205=)
c.477-48C= (n.477-48C=)
6g.139373345G>TCA365876636CITED2c.600C>A (p.Asn200Lys)
c.615C>A (p.Asn205Lys)
c.477-48C>A (n.477-48C>A)
6g.139373346_139373351dupCA4025558CITED2c.595_600dup (p.Asn200_Met201insGlyAsn)
c.610_615dup (p.Asn205_Met206insGlyAsn)
c.477-53_477-48dup (n.477-53_477-48dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373346T>ACA365876638CITED2c.599A>T (p.Asn200Ile)
c.614A>T (p.Asn205Ile)
c.477-49A>T (n.477-49A>T)
6g.139373346T>CCA365876639CITED2c.599A>G (p.Asn200Ser)
c.614A>G (p.Asn205Ser)
c.477-49A>G (n.477-49A>G)
6g.139373346T>GCA365876640CITED2c.599A>C (p.Asn200Thr)
c.614A>C (p.Asn205Thr)
c.477-49A>C (n.477-49A>C)
6g.139373346_139373352delinsTTGCCGCCA1667372327CITED2c.593_599delinsGCGGCAA (p.Ser198=)
c.608_614delinsGCGGCAA (p.Ser203=)
c.477-55_477-49delinsGCGGCAA (n.477-55_477-49delinsGCGGCAA)
6g.139373347T>ACA365876641CITED2c.598A>T (p.Asn200Tyr)
c.613A>T (p.Asn205Tyr)
c.477-50A>T (n.477-50A>T)
 dbSNP gnomAD v3 gnomAD v4
6g.139373347T>CCA365876642CITED2c.598A>G (p.Asn200Asp)
c.613A>G (p.Asn205Asp)
c.477-50A>G (n.477-50A>G)
6g.139373347T>GCA365876643CITED2c.598A>C (p.Asn200His)
c.613A>C (p.Asn205His)
c.477-50A>C (n.477-50A>C)
6g.139373347T=CA1667372328CITED2c.598A= (p.Asn200=)
c.613A= (p.Asn205=)
c.477-50A= (n.477-50A=)
6g.139373349_139373350insTGCTGCTGCCA2578756310CITED2c.598_599insGCAGCAGCA (p.Gly199_Asn200insSerSerSer)
c.613_614insGCAGCAGCA (p.Gly204_Asn205insSerSerSer)
c.477-50_477-49insGCAGCAGCA (n.477-50_477-49insGCAGCAGCA)
6g.139373359_139373364dupCA4025561CITED2c.593_598dup (p.Gly199_Asn200insSerGly)
c.608_613dup (p.Gly204_Asn205insSerGly)
c.477-55_477-50dup (n.477-55_477-50dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.139373359_139373364delCA4025560CITED2c.593_598del (p.Ser198_Gly199del)
c.608_613del (p.Ser203_Gly204del)
c.477-55_477-50del (n.477-55_477-50del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.139373348G>ACA4025562CITED2c.597C>T (p.Gly199=)
c.612C>T (p.Gly204=)
c.477-51C>T (n.477-51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373348G>CCA452441577CITED2c.597C>G (p.Gly199=)
c.612C>G (p.Gly204=)
c.477-51C>G (n.477-51C>G)
6g.139373348G=CA1667372330CITED2c.597C= (p.Gly199=)
c.612C= (p.Gly204=)
c.477-51C= (n.477-51C=)
6g.139373348G>TCA452441578CITED2c.597C>A (p.Gly199=)
c.612C>A (p.Gly204=)
c.477-51C>A (n.477-51C>A)
6g.139373349_139373350insTGCCGCCA1667372329CITED2c.597_598insGGCAGC (p.Gly199_Asn200insGlySer)
c.612_613insGGCAGC (p.Gly204_Asn205insGlySer)
c.477-51_477-50insGGCAGC (n.477-51_477-50insGGCAGC)
 dbSNP
6g.139373355_139373372delCA2538821562CITED2c.580_597del (p.Gly194_Gly199del)
c.595_612del (p.Gly199_Gly204del)
c.477-68_477-51del (n.477-68_477-51del)
 gnomAD v4
6g.139373349C>ACA365876646CITED2c.596G>T (p.Gly199Val)
c.611G>T (p.Gly204Val)
c.477-52G>T (n.477-52G>T)
6g.139373349C>GCA365876645CITED2c.596G>C (p.Gly199Ala)
c.611G>C (p.Gly204Ala)
c.477-52G>C (n.477-52G>C)
6g.139373349C>TCA365876644CITED2c.596G>A (p.Gly199Asp)
c.611G>A (p.Gly204Asp)
c.477-52G>A (n.477-52G>A)
 gnomAD v4
6g.139373350C>ACA365876647CITED2c.595G>T (p.Gly199Cys)
c.610G>T (p.Gly204Cys)
c.477-53G>T (n.477-53G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.139373350C=CA1667372332CITED2c.595G= (p.Gly199=)
c.610G= (p.Gly204=)
c.477-53G= (n.477-53G=)
6g.139373350C>GCA365876648CITED2c.595G>C (p.Gly199Arg)
c.610G>C (p.Gly204Arg)
c.477-53G>C (n.477-53G>C)
 gnomAD v4
6g.139373350C>TCA4025563CITED2c.595G>A (p.Gly199Ser)
c.610G>A (p.Gly204Ser)
c.477-53G>A (n.477-53G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373350_139373371delinsCGCTGCCGCTGCCGCCGCCGCTCA1667372331CITED2c.574_595delinsAGCGGCGGCGGCAGCGGCAGCG (p.Ser192=)
c.589_610delinsAGCGGCGGCGGCAGCGGCAGCG (p.Ser197=)
c.477-74_477-53delinsAGCGGCGGCGGCAGCGGCAGCG (n.477-74_477-53delinsAGCGGCGGCGGCAGCGGCAGCG)
6g.139373351delCA2680562548CITED2c.594del (p.Ser198ArgfsTer21)
c.609del (p.Ser203ArgfsTer21)
c.477-54del (n.477-54del)
 gnomAD v4
6g.139373351G>ACA452441582CITED2c.594C>T (p.Ser198=)
c.609C>T (p.Ser203=)
c.477-54C>T (n.477-54C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.139373351G>CCA365876649CITED2c.594C>G (p.Ser198Arg)
c.609C>G (p.Ser203Arg)
c.477-54C>G (n.477-54C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.139373351G=CA1667372333CITED2c.594C= (p.Ser198=)
c.609C= (p.Ser203=)
c.477-54C= (n.477-54C=)
6g.139373351G>TCA365876650CITED2c.594C>A (p.Ser198Arg)
c.609C>A (p.Ser203Arg)
c.477-54C>A (n.477-54C>A)
 gnomAD v4
6g.139373352_139373372delCA4025564CITED2c.574_594del (p.Ser192_Ser198del)
c.589_609del (p.Ser197_Ser203del)
c.477-74_477-54del (n.477-74_477-54del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373357_139373383delCA2680562549CITED2c.568_594del (p.Ser190_Ser198del)
c.583_609del (p.Ser195_Ser203del)
c.477-80_477-54del (n.477-80_477-54del)
 gnomAD v4
6g.139373359_139373433delCA2680562550CITED2c.520_594del (p.Ser174_Ser198del)
c.535_609del (p.Ser179_Ser203del)
c.476+44_477-54del (n.476+44_477-54del)
 gnomAD v4
6g.139373352C>ACA365876651CITED2c.593G>T (p.Ser198Ile)
c.608G>T (p.Ser203Ile)
c.477-55G>T (n.477-55G>T)
6g.139373352C=CA1667372334CITED2c.593G= (p.Ser198=)
c.608G= (p.Ser203=)
c.477-55G= (n.477-55G=)
6g.139373352C>GCA365876652CITED2c.593G>C (p.Ser198Thr)
c.608G>C (p.Ser203Thr)
c.477-55G>C (n.477-55G>C)
6g.139373352C>TCA365876653CITED2c.593G>A (p.Ser198Asn)
c.608G>A (p.Ser203Asn)
c.477-55G>A (n.477-55G>A)
 dbSNP
6g.139373353T>ACA365876654CITED2c.592A>T (p.Ser198Cys)
c.607A>T (p.Ser203Cys)
c.477-56A>T (n.477-56A>T)
6g.139373353T>CCA365876655CITED2c.592A>G (p.Ser198Gly)
c.607A>G (p.Ser203Gly)
c.477-56A>G (n.477-56A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.139373353T>GCA365876656CITED2c.592A>C (p.Ser198Arg)
c.607A>C (p.Ser203Arg)
c.477-56A>C (n.477-56A>C)
6g.139373353T=CA1667372335CITED2c.592A= (p.Ser198=)
c.607A= (p.Ser203=)
c.477-56A= (n.477-56A=)
6g.139373353_139373365delinsTGCCGCTGCCGCCCA1667372336CITED2c.580_592delinsGGCGGCAGCGGCA (p.Gly194=)
c.595_607delinsGGCGGCAGCGGCA (p.Gly199=)
c.477-68_477-56delinsGGCGGCAGCGGCA (n.477-68_477-56delinsGGCGGCAGCGGCA)
6g.139373356_139373376delCA2713330466CITED2c.572_592del (p.Asn191_Gly197del)
c.587_607del (p.Asn196_Gly202del)
c.477-76_477-56del (n.477-76_477-56del)
 dbSNP
6g.139373354G>ACA452441591CITED2c.591C>T (p.Gly197=)
c.606C>T (p.Gly202=)
c.477-57C>T (n.477-57C>T)
 gnomAD v4
6g.139373354G>CCA452441588CITED2c.591C>G (p.Gly197=)
c.606C>G (p.Gly202=)
c.477-57C>G (n.477-57C>G)
6g.139373354G>TCA452441590CITED2c.591C>A (p.Gly197=)
c.606C>A (p.Gly202=)
c.477-57C>A (n.477-57C>A)
6g.139373356_139373358dupCA1667372337CITED2c.589_591dup (p.Gly197_Ser198insGly)
c.604_606dup (p.Gly202_Ser203insGly)
c.477-59_477-57dup (n.477-59_477-57dup)
 dbSNP
6g.139373361_139373372dupCA4025566CITED2c.580_591dup (p.Gly197_Ser198insGlyGlySerGly)
c.595_606dup (p.Gly202_Ser203insGlyGlySerGly)
c.477-68_477-57dup (n.477-68_477-57dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373361_139373372delCA4025565CITED2c.580_591del (p.Gly194_Gly197del)
c.595_606del (p.Gly199_Gly202del)
c.477-68_477-57del (n.477-68_477-57del)
 dbSNP ExAC gnomAD v4
6g.139373355C>ACA365876657CITED2c.590G>T (p.Gly197Val)
c.605G>T (p.Gly202Val)
c.477-58G>T (n.477-58G>T)
 gnomAD v4
6g.139373355C>GCA365876658CITED2c.590G>C (p.Gly197Ala)
c.605G>C (p.Gly202Ala)
c.477-58G>C (n.477-58G>C)
6g.139373355C>TCA365876659CITED2c.590G>A (p.Gly197Asp)
c.605G>A (p.Gly202Asp)
c.477-58G>A (n.477-58G>A)
 gnomAD v4
6g.139373356C>ACA365876660CITED2c.589G>T (p.Gly197Cys)
c.604G>T (p.Gly202Cys)
c.477-59G>T (n.477-59G>T)
6g.139373356C=CA1667372338CITED2c.589G= (p.Gly197=)
c.604G= (p.Gly202=)
c.477-59G= (n.477-59G=)
6g.139373356C>GCA365876661CITED2c.589G>C (p.Gly197Arg)
c.604G>C (p.Gly202Arg)
c.477-59G>C (n.477-59G>C)
 ClinVar gnomAD v4
6g.139373356C>TCA365876662CITED2c.589G>A (p.Gly197Ser)
c.604G>A (p.Gly202Ser)
c.477-59G>A (n.477-59G>A)
 dbSNP
6g.139373356_139373374delinsCGCTGCCGCCGCCGCTGTTCA1667372339CITED2c.571_589delinsAACAGCGGCGGCGGCAGCG (p.Asn191=)
c.586_604delinsAACAGCGGCGGCGGCAGCG (p.Asn196=)
c.477-77_477-59delinsAACAGCGGCGGCGGCAGCG (n.477-77_477-59delinsAACAGCGGCGGCGGCAGCG)
6g.139373357G>ACA452441593CITED2c.588C>T (p.Ser196=)
c.603C>T (p.Ser201=)
c.477-60C>T (n.477-60C>T)
 gnomAD v4
6g.139373357G>CCA365876664CITED2c.588C>G (p.Ser196Arg)
c.603C>G (p.Ser201Arg)
c.477-60C>G (n.477-60C>G)
6g.139373357G>TCA365876663CITED2c.588C>A (p.Ser196Arg)
c.603C>A (p.Ser201Arg)
c.477-60C>A (n.477-60C>A)
6g.139373359_139373361dupCA4025567CITED2c.586_588dup (p.Ser196_Gly197insSer)
c.601_603dup (p.Ser201_Gly202insSer)
c.477-62_477-60dup (n.477-62_477-60dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373359_139373361delCA2680562551CITED2c.586_588del (p.Ser196del)
c.601_603del (p.Ser201del)
c.477-62_477-60del (n.477-62_477-60del)
 gnomAD v4
6g.139373362_139373379delCA1667372340CITED2c.571_588del (p.Asn191_Ser196del)
c.586_603del (p.Asn196_Ser201del)
c.477-77_477-60del (n.477-77_477-60del)
 dbSNP gnomAD v4
6g.139373358C>ACA365876665CITED2c.587G>T (p.Ser196Ile)
c.602G>T (p.Ser201Ile)
c.477-61G>T (n.477-61G>T)
6g.139373358C>GCA365876666CITED2c.587G>C (p.Ser196Thr)
c.602G>C (p.Ser201Thr)
c.477-61G>C (n.477-61G>C)
6g.139373358C>TCA365876667CITED2c.587G>A (p.Ser196Asn)
c.602G>A (p.Ser201Asn)
c.477-61G>A (n.477-61G>A)
6g.139373359T>ACA365876668CITED2c.586A>T (p.Ser196Cys)
c.601A>T (p.Ser201Cys)
c.477-62A>T (n.477-62A>T)
6g.139373359T>CCA4025569CITED2c.586A>G (p.Ser196Gly)
c.601A>G (p.Ser201Gly)
c.477-62A>G (n.477-62A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.139373359T>GCA365876669CITED2c.586A>C (p.Ser196Arg)
c.601A>C (p.Ser201Arg)
c.477-62A>C (n.477-62A>C)
6g.139373359T=CA1667372343CITED2c.586A= (p.Ser196=)
c.601A= (p.Ser201=)
c.477-62A= (n.477-62A=)
6g.139373359_139373365delinsTGCCGCCCA1667372341CITED2c.580_586delinsGGCGGCA (p.Gly194=)
c.595_601delinsGGCGGCA (p.Gly199=)
c.477-68_477-62delinsGGCGGCA (n.477-68_477-62delinsGGCGGCA)
6g.139373359_139373386delinsTGCCGCCGCCGCTGTTGCTGCTGCCCGCCA1667372342CITED2c.559_586delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (p.Ala187=)
c.574_601delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (p.Ala192=)
c.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA (n.476+83_477-62delinsGCGGGCAGCAGCAACAGCGGCGGCGGCA)
6g.139373360G>ACA452441608CITED2c.585C>T (p.Gly195=)
c.600C>T (p.Gly200=)
c.477-63C>T (n.477-63C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373360G>CCA452441607CITED2c.585C>G (p.Gly195=)
c.600C>G (p.Gly200=)
c.477-63C>G (n.477-63C>G)
6g.139373360G=CA1667372344CITED2c.585C= (p.Gly195=)
c.600C= (p.Gly200=)
c.477-63C= (n.477-63C=)
6g.139373360G>TCA452441606CITED2c.585C>A (p.Gly195=)
c.600C>A (p.Gly200=)
c.477-63C>A (n.477-63C>A)
6g.139373368_139373370dupCA148813793CITED2c.583_585dup (p.Gly195_Ser196insGly)
c.598_600dup (p.Gly200_Ser201insGly)
c.477-65_477-63dup (n.477-65_477-63dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373365_139373370dupCA4025570CITED2c.580_585dup (p.Gly195_Ser196insGlyGly)
c.595_600dup (p.Gly200_Ser201insGlyGly)
c.477-68_477-63dup (n.477-68_477-63dup)
 dbSNP ExAC gnomAD v3 gnomAD v4
6g.139373368_139373370delCA570979104CITED2c.583_585del (p.Gly195del)
c.598_600del (p.Gly200del)
c.477-65_477-63del (n.477-65_477-63del)
 gnomAD v2 gnomAD v4
6g.139373365_139373370delCA4025568CITED2c.580_585del (p.Gly194_Gly195del)
c.595_600del (p.Gly199_Gly200del)
c.477-68_477-63del (n.477-68_477-63del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373369_139373395dupCA1095070718CITED2c.559_585dup (p.Gly195_Ser196insAlaGlySerSerAsnSerGlyGlyGly)
c.574_600dup (p.Gly200_Ser201insAlaGlySerSerAsnSerGlyGlyGly)
c.476+83_477-63dup (n.476+83_477-63dup)
 dbSNP gnomAD v3 gnomAD v4
6g.139373369_139373395delCA4025571CITED2c.559_585del (p.Ala187_Gly195del)
c.574_600del (p.Ala192_Gly200del)
c.476+83_477-63del (n.476+83_477-63del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373361C>ACA365876670CITED2c.584G>T (p.Gly195Val)
c.599G>T (p.Gly200Val)
c.477-64G>T (n.477-64G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373361C=CA1667372345CITED2c.584G= (p.Gly195=)
c.599G= (p.Gly200=)
c.477-64G= (n.477-64G=)
6g.139373361C>GCA4025572CITED2c.584G>C (p.Gly195Ala)
c.599G>C (p.Gly200Ala)
c.477-64G>C (n.477-64G>C)
 dbSNP ExAC gnomAD v2
6g.139373361C>TCA365876671CITED2c.584G>A (p.Gly195Asp)
c.599G>A (p.Gly200Asp)
c.477-64G>A (n.477-64G>A)
 gnomAD v4
6g.139373361_139373385delinsCCGCCGCCGCTGTTGCTGCTGCCCGCA1667372346CITED2c.560_584delinsCGGGCAGCAGCAACAGCGGCGGCGG (p.Ala187=)
c.575_599delinsCGGGCAGCAGCAACAGCGGCGGCGG (p.Ala192=)
c.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGGCGG (n.476+84_477-64delinsCGGGCAGCAGCAACAGCGGCGGCGG)
6g.139373362C>ACA365876672CITED2c.583G>T (p.Gly195Cys)
c.598G>T (p.Gly200Cys)
c.477-65G>T (n.477-65G>T)
 gnomAD v4
6g.139373362C=CA1667372347CITED2c.583G= (p.Gly195=)
c.598G= (p.Gly200=)
c.477-65G= (n.477-65G=)
6g.139373362C>GCA365876673CITED2c.583G>C (p.Gly195Arg)
c.598G>C (p.Gly200Arg)
c.477-65G>C (n.477-65G>C)
6g.139373362C>TCA365876674CITED2c.583G>A (p.Gly195Ser)
c.598G>A (p.Gly200Ser)
c.477-65G>A (n.477-65G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.139373362_139373373delCA2680562552CITED2c.572_583del (p.Asn191_Gly195delinsSer)
c.587_598del (p.Asn196_Gly200delinsSer)
c.477-76_477-65del (n.477-76_477-65del)
 gnomAD v4
6g.139373371_139373394delCA570979105CITED2c.560_583del (p.Ala187_Gly194del)
c.575_598del (p.Ala192_Gly199del)
c.476+84_477-65del (n.476+84_477-65del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373363G>ACA4025573CITED2c.582C>T (p.Gly194=)
c.597C>T (p.Gly199=)
c.477-66C>T (n.477-66C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373363G>CCA148813794CITED2c.582C>G (p.Gly194=)
c.597C>G (p.Gly199=)
c.477-66C>G (n.477-66C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.139373363G=CA1667372348CITED2c.582C= (p.Gly194=)
c.597C= (p.Gly199=)
c.477-66C= (n.477-66C=)
6g.139373363G>TCA452441610CITED2c.582C>A (p.Gly194=)
c.597C>A (p.Gly199=)
c.477-66C>A (n.477-66C>A)
6g.139373366_139373383delCA2680562553CITED2c.565_582del (p.Ser189_Gly194del)
c.580_597del (p.Ser194_Gly199del)
c.477-83_477-66del (n.477-83_477-66del)
 gnomAD v4
6g.139373364C>ACA365876675CITED2c.581G>T (p.Gly194Val)
c.596G>T (p.Gly199Val)
c.477-67G>T (n.477-67G>T)
6g.139373364C>GCA365876676CITED2c.581G>C (p.Gly194Ala)
c.596G>C (p.Gly199Ala)
c.477-67G>C (n.477-67G>C)
6g.139373364C>TCA365876677CITED2c.581G>A (p.Gly194Asp)
c.596G>A (p.Gly199Asp)
c.477-67G>A (n.477-67G>A)
 gnomAD v4
6g.139373365C>ACA365876678CITED2c.580G>T (p.Gly194Cys)
c.595G>T (p.Gly199Cys)
c.477-68G>T (n.477-68G>T)
6g.139373365C=CA1667372349CITED2c.580G= (p.Gly194=)
c.595G= (p.Gly199=)
c.477-68G= (n.477-68G=)
6g.139373365C>GCA365876679CITED2c.580G>C (p.Gly194Arg)
c.595G>C (p.Gly199Arg)
c.477-68G>C (n.477-68G>C)
6g.139373365C>TCA4025575CITED2c.580G>A (p.Gly194Ser)
c.595G>A (p.Gly199Ser)
c.477-68G>A (n.477-68G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373365_139373371delinsCGCCGCTCA1667372350CITED2c.574_580delinsAGCGGCG (p.Ser192=)
c.589_595delinsAGCGGCG (p.Ser197=)
c.477-74_477-68delinsAGCGGCG (n.477-74_477-68delinsAGCGGCG)
6g.139373366G>ACA452441621CITED2c.579C>T (p.Gly193=)
c.594C>T (p.Gly198=)
c.477-69C>T (n.477-69C>T)
 gnomAD v4
6g.139373366G>CCA452441623CITED2c.579C>G (p.Gly193=)
c.594C>G (p.Gly198=)
c.477-69C>G (n.477-69C>G)
6g.139373366G=CA1667372351CITED2c.579C= (p.Gly193=)
c.594C= (p.Gly198=)
c.477-69C= (n.477-69C=)
6g.139373366G>TCA452441620CITED2c.579C>A (p.Gly193=)
c.594C>A (p.Gly198=)
c.477-69C>A (n.477-69C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.139373367_139373372dupCA4025576CITED2c.574_579dup (p.Gly193_Gly194insSerGly)
c.589_594dup (p.Gly198_Gly199insSerGly)
c.477-74_477-69dup (n.477-74_477-69dup)
 dbSNP ExAC
6g.139373367_139373372delCA4025574CITED2c.574_579del (p.Ser192_Gly193del)
c.589_594del (p.Ser197_Gly198del)
c.477-74_477-69del (n.477-74_477-69del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373367C>ACA365876680CITED2c.578G>T (p.Gly193Val)
c.593G>T (p.Gly198Val)
c.477-70G>T (n.477-70G>T)
6g.139373367C>GCA365876682CITED2c.578G>C (p.Gly193Ala)
c.593G>C (p.Gly198Ala)
c.477-70G>C (n.477-70G>C)
6g.139373367C>TCA365876681CITED2c.578G>A (p.Gly193Asp)
c.593G>A (p.Gly198Asp)
c.477-70G>A (n.477-70G>A)
6g.139373368C>ACA365876683CITED2c.577G>T (p.Gly193Cys)
c.592G>T (p.Gly198Cys)
c.477-71G>T (n.477-71G>T)
6g.139373368C>GCA365876685CITED2c.577G>C (p.Gly193Arg)
c.592G>C (p.Gly198Arg)
c.477-71G>C (n.477-71G>C)
6g.139373368C>TCA365876684CITED2c.577G>A (p.Gly193Ser)
c.592G>A (p.Gly198Ser)
c.477-71G>A (n.477-71G>A)
6g.139373368_139373371delinsCGCTCA1667372352CITED2c.574_577delinsAGCG (p.Ser192=)
c.589_592delinsAGCG (p.Ser197=)
c.477-74_477-71delinsAGCG (n.477-74_477-71delinsAGCG)
6g.139373368_139373373delCA2680562554CITED2c.572_577del (p.Asn191_Gly193delinsSer)
c.587_592del (p.Asn196_Gly198delinsSer)
c.477-76_477-71del (n.477-76_477-71del)
 gnomAD v4
6g.139373369G>ACA452441628CITED2c.576C>T (p.Ser192=)
c.591C>T (p.Ser197=)
c.477-72C>T (n.477-72C>T)
 gnomAD v4
6g.139373369G>CCA365876686CITED2c.576C>G (p.Ser192Arg)
c.591C>G (p.Ser197Arg)
c.477-72C>G (n.477-72C>G)
6g.139373369G>TCA365876687CITED2c.576C>A (p.Ser192Arg)
c.591C>A (p.Ser197Arg)
c.477-72C>A (n.477-72C>A)
6g.139373370_139373372delCA4025577CITED2c.574_576del (p.Ser192del)
c.589_591del (p.Ser197del)
c.477-74_477-72del (n.477-74_477-72del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373371_139373382delCA2713330482CITED2c.565_576del (p.Ser189_Ser192del)
c.580_591del (p.Ser194_Ser197del)
c.477-83_477-72del (n.477-83_477-72del)
 dbSNP
6g.139373370C>ACA365876688CITED2c.575G>T (p.Ser192Ile)
c.590G>T (p.Ser197Ile)
c.477-73G>T (n.477-73G>T)
6g.139373370C=CA1667372354CITED2c.575G= (p.Ser192=)
c.590G= (p.Ser197=)
c.477-73G= (n.477-73G=)
6g.139373370C>GCA365876689CITED2c.575G>C (p.Ser192Thr)
c.590G>C (p.Ser197Thr)
c.477-73G>C (n.477-73G>C)
6g.139373370C>TCA365876690CITED2c.575G>A (p.Ser192Asn)
c.590G>A (p.Ser197Asn)
c.477-73G>A (n.477-73G>A)
6g.139373370_139373385delinsCTGTTGCTGCTGCCCGCA1667372353CITED2c.560_575delinsCGGGCAGCAGCAACAG (p.Ala187=)
c.575_590delinsCGGGCAGCAGCAACAG (p.Ala192=)
c.476+84_477-73delinsCGGGCAGCAGCAACAG (n.476+84_477-73delinsCGGGCAGCAGCAACAG)
6g.139373370_139373371insCGACA1667372356CITED2c.574_575insTCG (p.Ser192delinsIleGly)
c.589_590insTCG (p.Ser197delinsIleGly)
c.477-74_477-73insTCG (n.477-74_477-73insTCG)
 dbSNP gnomAD v4
6g.139373371T>ACA365876691CITED2c.574A>T (p.Ser192Cys)
c.589A>T (p.Ser197Cys)
c.477-74A>T (n.477-74A>T)
6g.139373371T>CCA4025578CITED2c.574A>G (p.Ser192Gly)
c.589A>G (p.Ser197Gly)
c.477-74A>G (n.477-74A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373371T>GCA365876692CITED2c.574A>C (p.Ser192Arg)
c.589A>C (p.Ser197Arg)
c.477-74A>C (n.477-74A>C)
6g.139373371T=CA1667372355CITED2c.574A= (p.Ser192=)
c.589A= (p.Ser197=)
c.477-74A= (n.477-74A=)
6g.139373373_139373375delCA2680562555CITED2c.572_574del (p.Asn191del)
c.587_589del (p.Asn196del)
c.477-76_477-74del (n.477-76_477-74del)
 gnomAD v4
6g.139373371_139373385delCA570979106CITED2c.560_574del (p.Ala187_Ser192delinsGly)
c.575_589del (p.Ala192_Ser197delinsGly)
c.476+84_477-74del (n.476+84_477-74del)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched