Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.113089492_113089512delinsGAAAAGGAGCCACTCCTTACACA1937197462TCF7L2c.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA (p.=)
c.576_596delinsGAAAAGGAGCCACTCCTTACA (p.Met192=)
c.552+49366_552+49386delinsGAAAAGGAGCCACTCCTTACA (p.=)
n.486_506delinsGAAAAGGAGCCACTCCTTACA (p.Met162=)
c.579_599delinsGAAAAGGAGCCACTCCTTACA (p.Met193=)
c.382-51692_382-51672delinsGAAAAGGAGCCACTCCTTACA (p.=)
c.261_281delinsGAAAAGGAGCCACTCCTTACA (p.Met87=)
n.483+49366_483+49386delinsGAAAAGGAGCCACTCCTTACA (p.=)
c.648_668delinsGAAAAGGAGCCACTCCTTACA (p.Met216=)
c.645_665delinsGAAAAGGAGCCACTCCTTACA (p.Met215=)
c.189_209delinsGAAAAGGAGCCACTCCTTACA (p.Met63=)
10g.113089498_113089517delCA5692909TCF7L2c.483+49372_483+49391del (p.=)
c.582_601del (p.Arg194SerfsTer8)
c.552+49372_552+49391del (p.=)
n.492_511del (p.Arg164SerfsTer8)
c.585_604del (p.Arg195SerfsTer8)
c.382-51686_382-51667del (p.=)
c.267_286del (p.Arg89SerfsTer8)
n.483+49372_483+49391del (p.=)
c.654_673del (p.Arg218SerfsTer8)
c.651_670del (p.Arg217SerfsTer8)
c.195_214del (p.Arg65SerfsTer8)
dbSNP ExAC gnomAD
10g.113089494A>CCA378532788TCF7L2c.483+49368A>C (p.=)
c.578A>C (p.Lys193Thr)
c.552+49368A>C (p.=)
n.488A>C (p.Lys163Thr)
c.581A>C (p.Lys194Thr)
c.382-51690A>C (p.=)
c.263A>C (p.Lys88Thr)
n.483+49368A>C (p.=)
c.650A>C (p.Lys217Thr)
c.647A>C (p.Lys216Thr)
c.191A>C (p.Lys64Thr)
10g.113089494A>GCA378532789TCF7L2c.483+49368A>G (p.=)
c.578A>G (p.Lys193Arg)
c.552+49368A>G (p.=)
n.488A>G (p.Lys163Arg)
c.581A>G (p.Lys194Arg)
c.382-51690A>G (p.=)
c.263A>G (p.Lys88Arg)
n.483+49368A>G (p.=)
c.650A>G (p.Lys217Arg)
c.647A>G (p.Lys216Arg)
c.191A>G (p.Lys64Arg)
10g.113089494A>TCA378532790TCF7L2c.483+49368A>T (p.=)
c.578A>T (p.Lys193Ile)
c.552+49368A>T (p.=)
n.488A>T (p.Lys163Ile)
c.581A>T (p.Lys194Ile)
c.382-51690A>T (p.=)
c.263A>T (p.Lys88Ile)
n.483+49368A>T (p.=)
c.650A>T (p.Lys217Ile)
c.647A>T (p.Lys216Ile)
c.191A>T (p.Lys64Ile)
10g.113089495A>CCA378532791TCF7L2c.483+49369A>C (p.=)
c.579A>C (p.Lys193Asn)
c.552+49369A>C (p.=)
n.489A>C (p.Lys163Asn)
c.582A>C (p.Lys194Asn)
c.382-51689A>C (p.=)
c.264A>C (p.Lys88Asn)
n.483+49369A>C (p.=)
c.651A>C (p.Lys217Asn)
c.648A>C (p.Lys216Asn)
c.192A>C (p.Lys64Asn)
10g.113089495A>TCA378532792TCF7L2c.483+49369A>T (p.=)
c.579A>T (p.Lys193Asn)
c.552+49369A>T (p.=)
n.489A>T (p.Lys163Asn)
c.582A>T (p.Lys194Asn)
c.382-51689A>T (p.=)
c.264A>T (p.Lys88Asn)
n.483+49369A>T (p.=)
c.651A>T (p.Lys217Asn)
c.648A>T (p.Lys216Asn)
c.192A>T (p.Lys64Asn)
10g.113089496A=CA1937197463TCF7L2c.483+49370A= (p.=)
c.580A= (p.Arg194=)
c.552+49370A= (p.=)
n.490A= (p.Arg164=)
c.583A= (p.Arg195=)
c.382-51688A= (p.=)
c.265A= (p.Arg89=)
n.483+49370A= (p.=)
c.652A= (p.Arg218=)
c.649A= (p.Arg217=)
c.193A= (p.Arg65=)
10g.113089496A>GCA5692910TCF7L2c.483+49370A>G (p.=)
c.580A>G (p.Arg194Gly)
c.552+49370A>G (p.=)
n.490A>G (p.Arg164Gly)
c.583A>G (p.Arg195Gly)
c.382-51688A>G (p.=)
c.265A>G (p.Arg89Gly)
n.483+49370A>G (p.=)
c.652A>G (p.Arg218Gly)
c.649A>G (p.Arg217Gly)
c.193A>G (p.Arg65Gly)
dbSNP ExAC gnomAD
10g.113089496A>TCA378532793TCF7L2c.483+49370A>T (p.=)
c.580A>T (p.Arg194Trp)
c.552+49370A>T (p.=)
n.490A>T (p.Arg164Trp)
c.583A>T (p.Arg195Trp)
c.382-51688A>T (p.=)
c.265A>T (p.Arg89Trp)
n.483+49370A>T (p.=)
c.652A>T (p.Arg218Trp)
c.649A>T (p.Arg217Trp)
c.193A>T (p.Arg65Trp)
10g.113089497G>ACA378532794TCF7L2c.483+49371G>A (p.=)
c.581G>A (p.Arg194Lys)
c.552+49371G>A (p.=)
n.491G>A (p.Arg164Lys)
c.584G>A (p.Arg195Lys)
c.382-51687G>A (p.=)
c.266G>A (p.Arg89Lys)
n.483+49371G>A (p.=)
c.653G>A (p.Arg218Lys)
c.650G>A (p.Arg217Lys)
c.194G>A (p.Arg65Lys)
gnomAD COSMIC
10g.113089497G>CCA378532795TCF7L2c.483+49371G>C (p.=)
c.581G>C (p.Arg194Thr)
c.552+49371G>C (p.=)
n.491G>C (p.Arg164Thr)
c.584G>C (p.Arg195Thr)
c.382-51687G>C (p.=)
c.266G>C (p.Arg89Thr)
n.483+49371G>C (p.=)
c.653G>C (p.Arg218Thr)
c.650G>C (p.Arg217Thr)
c.194G>C (p.Arg65Thr)
10g.113089497G=CA1937197464TCF7L2c.483+49371G= (p.=)
c.581G= (p.Arg194=)
c.552+49371G= (p.=)
n.491G= (p.Arg164=)
c.584G= (p.Arg195=)
c.382-51687G= (p.=)
c.266G= (p.Arg89=)
n.483+49371G= (p.=)
c.653G= (p.Arg218=)
c.650G= (p.Arg217=)
c.194G= (p.Arg65=)
10g.113089497G>TCA378532796TCF7L2c.483+49371G>T (p.=)
c.581G>T (p.Arg194Met)
c.552+49371G>T (p.=)
n.491G>T (p.Arg164Met)
c.584G>T (p.Arg195Met)
c.382-51687G>T (p.=)
c.266G>T (p.Arg89Met)
n.483+49371G>T (p.=)
c.653G>T (p.Arg218Met)
c.650G>T (p.Arg217Met)
c.194G>T (p.Arg65Met)
10g.113089498G>CCA378532797TCF7L2c.483+49372G>C (p.=)
c.582G>C (p.Arg194Ser)
c.552+49372G>C (p.=)
n.492G>C (p.Arg164Ser)
c.585G>C (p.Arg195Ser)
c.382-51686G>C (p.=)
c.267G>C (p.Arg89Ser)
n.483+49372G>C (p.=)
c.654G>C (p.Arg218Ser)
c.651G>C (p.Arg217Ser)
c.195G>C (p.Arg65Ser)
10g.113089498G>TCA378532798TCF7L2c.483+49372G>T (p.=)
c.582G>T (p.Arg194Ser)
c.552+49372G>T (p.=)
n.492G>T (p.Arg164Ser)
c.585G>T (p.Arg195Ser)
c.382-51686G>T (p.=)
c.267G>T (p.Arg89Ser)
n.483+49372G>T (p.=)
c.654G>T (p.Arg218Ser)
c.651G>T (p.Arg217Ser)
c.195G>T (p.Arg65Ser)
10g.113089499A>CCA378532799TCF7L2c.483+49373A>C (p.=)
c.583A>C (p.Ser195Arg)
c.552+49373A>C (p.=)
n.493A>C (p.Ser165Arg)
c.586A>C (p.Ser196Arg)
c.382-51685A>C (p.=)
c.268A>C (p.Ser90Arg)
n.483+49373A>C (p.=)
c.655A>C (p.Ser219Arg)
c.652A>C (p.Ser218Arg)
c.196A>C (p.Ser66Arg)
10g.113089499A>GCA378532800TCF7L2c.483+49373A>G (p.=)
c.583A>G (p.Ser195Gly)
c.552+49373A>G (p.=)
n.493A>G (p.Ser165Gly)
c.586A>G (p.Ser196Gly)
c.382-51685A>G (p.=)
c.268A>G (p.Ser90Gly)
n.483+49373A>G (p.=)
c.655A>G (p.Ser219Gly)
c.652A>G (p.Ser218Gly)
c.196A>G (p.Ser66Gly)
10g.113089499A>TCA378532801TCF7L2c.483+49373A>T (p.=)
c.583A>T (p.Ser195Cys)
c.552+49373A>T (p.=)
n.493A>T (p.Ser165Cys)
c.586A>T (p.Ser196Cys)
c.382-51685A>T (p.=)
c.268A>T (p.Ser90Cys)
n.483+49373A>T (p.=)
c.655A>T (p.Ser219Cys)
c.652A>T (p.Ser218Cys)
c.196A>T (p.Ser66Cys)
10g.113089500G>ACA378532802TCF7L2c.483+49374G>A (p.=)
c.584G>A (p.Ser195Asn)
c.552+49374G>A (p.=)
n.494G>A (p.Ser165Asn)
c.587G>A (p.Ser196Asn)
c.382-51684G>A (p.=)
c.269G>A (p.Ser90Asn)
n.483+49374G>A (p.=)
c.656G>A (p.Ser219Asn)
c.653G>A (p.Ser218Asn)
c.197G>A (p.Ser66Asn)
gnomAD
10g.113089500G>CCA378532803TCF7L2c.483+49374G>C (p.=)
c.584G>C (p.Ser195Thr)
c.552+49374G>C (p.=)
n.494G>C (p.Ser165Thr)
c.587G>C (p.Ser196Thr)
c.382-51684G>C (p.=)
c.269G>C (p.Ser90Thr)
n.483+49374G>C (p.=)
c.656G>C (p.Ser219Thr)
c.653G>C (p.Ser218Thr)
c.197G>C (p.Ser66Thr)
10g.113089500G=CA1937197465TCF7L2c.483+49374G= (p.=)
c.584G= (p.Ser195=)
c.552+49374G= (p.=)
n.494G= (p.Ser165=)
c.587G= (p.Ser196=)
c.382-51684G= (p.=)
c.269G= (p.Ser90=)
n.483+49374G= (p.=)
c.656G= (p.Ser219=)
c.653G= (p.Ser218=)
c.197G= (p.Ser66=)
10g.113089500G>TCA378532804TCF7L2c.483+49374G>T (p.=)
c.584G>T (p.Ser195Ile)
c.552+49374G>T (p.=)
n.494G>T (p.Ser165Ile)
c.587G>T (p.Ser196Ile)
c.382-51684G>T (p.=)
c.269G>T (p.Ser90Ile)
n.483+49374G>T (p.=)
c.656G>T (p.Ser219Ile)
c.653G>T (p.Ser218Ile)
c.197G>T (p.Ser66Ile)
10g.113089501C>ACA378532805TCF7L2c.483+49375C>A (p.=)
c.585C>A (p.Ser195Arg)
c.552+49375C>A (p.=)
n.495C>A (p.Ser165Arg)
c.588C>A (p.Ser196Arg)
c.382-51683C>A (p.=)
c.270C>A (p.Ser90Arg)
n.483+49375C>A (p.=)
c.657C>A (p.Ser219Arg)
c.654C>A (p.Ser218Arg)
c.198C>A (p.Ser66Arg)
gnomAD
10g.113089501C=CA1937197466TCF7L2c.483+49375C= (p.=)
c.585C= (p.Ser195=)
c.552+49375C= (p.=)
n.495C= (p.Ser165=)
c.588C= (p.Ser196=)
c.382-51683C= (p.=)
c.270C= (p.Ser90=)
n.483+49375C= (p.=)
c.657C= (p.Ser219=)
c.654C= (p.Ser218=)
c.198C= (p.Ser66=)
10g.113089501C>GCA378532806TCF7L2c.483+49375C>G (p.=)
c.585C>G (p.Ser195Arg)
c.552+49375C>G (p.=)
n.495C>G (p.Ser165Arg)
c.588C>G (p.Ser196Arg)
c.382-51683C>G (p.=)
c.270C>G (p.Ser90Arg)
n.483+49375C>G (p.=)
c.657C>G (p.Ser219Arg)
c.654C>G (p.Ser218Arg)
c.198C>G (p.Ser66Arg)
10g.113089502C>ACA378532807TCF7L2c.483+49376C>A (p.=)
c.586C>A (p.His196Asn)
c.552+49376C>A (p.=)
n.496C>A (p.His166Asn)
c.589C>A (p.His197Asn)
c.382-51682C>A (p.=)
c.271C>A (p.His91Asn)
n.483+49376C>A (p.=)
c.658C>A (p.His220Asn)
c.655C>A (p.His219Asn)
c.199C>A (p.His67Asn)
10g.113089502C=CA1937197467TCF7L2c.483+49376C= (p.=)
c.586C= (p.His196=)
c.552+49376C= (p.=)
n.496C= (p.His166=)
c.589C= (p.His197=)
c.382-51682C= (p.=)
c.271C= (p.His91=)
n.483+49376C= (p.=)
c.658C= (p.His220=)
c.655C= (p.His219=)
c.199C= (p.His67=)
10g.113089502C>GCA378532808TCF7L2c.483+49376C>G (p.=)
c.586C>G (p.His196Asp)
c.552+49376C>G (p.=)
n.496C>G (p.His166Asp)
c.589C>G (p.His197Asp)
c.382-51682C>G (p.=)
c.271C>G (p.His91Asp)
n.483+49376C>G (p.=)
c.658C>G (p.His220Asp)
c.655C>G (p.His219Asp)
c.199C>G (p.His67Asp)
10g.113089502C>TCA378532809TCF7L2c.483+49376C>T (p.=)
c.586C>T (p.His196Tyr)
c.552+49376C>T (p.=)
n.496C>T (p.His166Tyr)
c.589C>T (p.His197Tyr)
c.382-51682C>T (p.=)
c.271C>T (p.His91Tyr)
n.483+49376C>T (p.=)
c.658C>T (p.His220Tyr)
c.655C>T (p.His219Tyr)
c.199C>T (p.His67Tyr)
10g.113089503A>CCA378532812TCF7L2c.483+49377A>C (p.=)
c.587A>C (p.His196Pro)
c.552+49377A>C (p.=)
n.497A>C (p.His166Pro)
c.590A>C (p.His197Pro)
c.382-51681A>C (p.=)
c.272A>C (p.His91Pro)
n.483+49377A>C (p.=)
c.659A>C (p.His220Pro)
c.656A>C (p.His219Pro)
c.200A>C (p.His67Pro)
10g.113089503A>GCA378532811TCF7L2c.483+49377A>G (p.=)
c.587A>G (p.His196Arg)
c.552+49377A>G (p.=)
n.497A>G (p.His166Arg)
c.590A>G (p.His197Arg)
c.382-51681A>G (p.=)
c.272A>G (p.His91Arg)
n.483+49377A>G (p.=)
c.659A>G (p.His220Arg)
c.656A>G (p.His219Arg)
c.200A>G (p.His67Arg)
10g.113089503A>TCA378532810TCF7L2c.483+49377A>T (p.=)
c.587A>T (p.His196Leu)
c.552+49377A>T (p.=)
n.497A>T (p.His166Leu)
c.590A>T (p.His197Leu)
c.382-51681A>T (p.=)
c.272A>T (p.His91Leu)
n.483+49377A>T (p.=)
c.659A>T (p.His220Leu)
c.656A>T (p.His219Leu)
c.200A>T (p.His67Leu)
10g.113089504C>ACA378532813TCF7L2c.483+49378C>A (p.=)
c.588C>A (p.His196Gln)
c.552+49378C>A (p.=)
n.498C>A (p.His166Gln)
c.591C>A (p.His197Gln)
c.382-51680C>A (p.=)
c.273C>A (p.His91Gln)
n.483+49378C>A (p.=)
c.660C>A (p.His220Gln)
c.657C>A (p.His219Gln)
c.201C>A (p.His67Gln)
10g.113089504C=CA1937197468TCF7L2c.483+49378C= (p.=)
c.588C= (p.His196=)
c.552+49378C= (p.=)
n.498C= (p.His166=)
c.591C= (p.His197=)
c.382-51680C= (p.=)
c.273C= (p.His91=)
n.483+49378C= (p.=)
c.660C= (p.His220=)
c.657C= (p.His219=)
c.201C= (p.His67=)
10g.113089504C>GCA378532814TCF7L2c.483+49378C>G (p.=)
c.588C>G (p.His196Gln)
c.552+49378C>G (p.=)
n.498C>G (p.His166Gln)
c.591C>G (p.His197Gln)
c.382-51680C>G (p.=)
c.273C>G (p.His91Gln)
n.483+49378C>G (p.=)
c.660C>G (p.His220Gln)
c.657C>G (p.His219Gln)
c.201C>G (p.His67Gln)
10g.113089504C>TCA596094333TCF7L2c.483+49378C>T (p.=)
c.588C>T (p.His196=)
c.552+49378C>T (p.=)
n.498C>T (p.His166=)
c.591C>T (p.His197=)
c.382-51680C>T (p.=)
c.273C>T (p.His91=)
n.483+49378C>T (p.=)
c.660C>T (p.His220=)
c.657C>T (p.His219=)
c.201C>T (p.His67=)
gnomAD
10g.113089505T>ACA378532815TCF7L2c.483+49379T>A (p.=)
c.589T>A (p.Ser197Thr)
c.552+49379T>A (p.=)
n.499T>A (p.Ser167Thr)
c.592T>A (p.Ser198Thr)
c.382-51679T>A (p.=)
c.274T>A (p.Ser92Thr)
n.483+49379T>A (p.=)
c.661T>A (p.Ser221Thr)
c.658T>A (p.Ser220Thr)
c.202T>A (p.Ser68Thr)
10g.113089505T>CCA378532817TCF7L2c.483+49379T>C (p.=)
c.589T>C (p.Ser197Pro)
c.552+49379T>C (p.=)
n.499T>C (p.Ser167Pro)
c.592T>C (p.Ser198Pro)
c.382-51679T>C (p.=)
c.274T>C (p.Ser92Pro)
n.483+49379T>C (p.=)
c.661T>C (p.Ser221Pro)
c.658T>C (p.Ser220Pro)
c.202T>C (p.Ser68Pro)
10g.113089505T>GCA378532816TCF7L2c.483+49379T>G (p.=)
c.589T>G (p.Ser197Ala)
c.552+49379T>G (p.=)
n.499T>G (p.Ser167Ala)
c.592T>G (p.Ser198Ala)
c.382-51679T>G (p.=)
c.274T>G (p.Ser92Ala)
n.483+49379T>G (p.=)
c.661T>G (p.Ser221Ala)
c.658T>G (p.Ser220Ala)
c.202T>G (p.Ser68Ala)
10g.113089506C>ACA378532818TCF7L2c.483+49380C>A (p.=)
c.590C>A (p.Ser197Tyr)
c.552+49380C>A (p.=)
n.500C>A (p.Ser167Tyr)
c.593C>A (p.Ser198Tyr)
c.382-51678C>A (p.=)
c.275C>A (p.Ser92Tyr)
n.483+49380C>A (p.=)
c.662C>A (p.Ser221Tyr)
c.659C>A (p.Ser220Tyr)
c.203C>A (p.Ser68Tyr)
10g.113089506C>GCA378532819TCF7L2c.483+49380C>G (p.=)
c.590C>G (p.Ser197Cys)
c.552+49380C>G (p.=)
n.500C>G (p.Ser167Cys)
c.593C>G (p.Ser198Cys)
c.382-51678C>G (p.=)
c.275C>G (p.Ser92Cys)
n.483+49380C>G (p.=)
c.662C>G (p.Ser221Cys)
c.659C>G (p.Ser220Cys)
c.203C>G (p.Ser68Cys)
10g.113089506C>TCA378532820TCF7L2c.483+49380C>T (p.=)
c.590C>T (p.Ser197Phe)
c.552+49380C>T (p.=)
n.500C>T (p.Ser167Phe)
c.593C>T (p.Ser198Phe)
c.382-51678C>T (p.=)
c.275C>T (p.Ser92Phe)
n.483+49380C>T (p.=)
c.662C>T (p.Ser221Phe)
c.659C>T (p.Ser220Phe)
c.203C>T (p.Ser68Phe)
10g.113089508T>ACA378532821TCF7L2c.483+49382T>A (p.=)
c.592T>A (p.Leu198Ile)
c.552+49382T>A (p.=)
n.502T>A (p.Leu168Ile)
c.595T>A (p.Leu199Ile)
c.382-51676T>A (p.=)
c.277T>A (p.Leu93Ile)
n.483+49382T>A (p.=)
c.664T>A (p.Leu222Ile)
c.661T>A (p.Leu221Ile)
c.205T>A (p.Leu69Ile)
10g.113089508T>GCA378532822TCF7L2c.483+49382T>G (p.=)
c.592T>G (p.Leu198Val)
c.552+49382T>G (p.=)
n.502T>G (p.Leu168Val)
c.595T>G (p.Leu199Val)
c.382-51676T>G (p.=)
c.277T>G (p.Leu93Val)
n.483+49382T>G (p.=)
c.664T>G (p.Leu222Val)
c.661T>G (p.Leu221Val)
c.205T>G (p.Leu69Val)
10g.113089509T>ACA378532823TCF7L2c.483+49383T>A (p.=)
c.593T>A (p.Leu198Ter)
c.552+49383T>A (p.=)
n.503T>A (p.Leu168Ter)
c.596T>A (p.Leu199Ter)
c.382-51675T>A (p.=)
c.278T>A (p.Leu93Ter)
n.483+49383T>A (p.=)
c.665T>A (p.Leu222Ter)
c.662T>A (p.Leu221Ter)
c.206T>A (p.Leu69Ter)
10g.113089509T>CCA378532824TCF7L2c.483+49383T>C (p.=)
c.593T>C (p.Leu198Ser)
c.552+49383T>C (p.=)
n.503T>C (p.Leu168Ser)
c.596T>C (p.Leu199Ser)
c.382-51675T>C (p.=)
c.278T>C (p.Leu93Ser)
n.483+49383T>C (p.=)
c.665T>C (p.Leu222Ser)
c.662T>C (p.Leu221Ser)
c.206T>C (p.Leu69Ser)
10g.113089509T>GCA378532825TCF7L2c.483+49383T>G (p.=)
c.593T>G (p.Leu198Ter)
c.552+49383T>G (p.=)
n.503T>G (p.Leu168Ter)
c.596T>G (p.Leu199Ter)
c.382-51675T>G (p.=)
c.278T>G (p.Leu93Ter)
n.483+49383T>G (p.=)
c.665T>G (p.Leu222Ter)
c.662T>G (p.Leu221Ter)
c.206T>G (p.Leu69Ter)
10g.113089510A=CA1937197469TCF7L2c.483+49384A= (p.=)
c.594A= (p.Leu198=)
c.552+49384A= (p.=)
n.504A= (p.Leu168=)
c.597A= (p.Leu199=)
c.382-51674A= (p.=)
c.279A= (p.Leu93=)
n.483+49384A= (p.=)
c.666A= (p.Leu222=)
c.663A= (p.Leu221=)
c.207A= (p.Leu69=)
10g.113089510A>CCA378532826TCF7L2c.483+49384A>C (p.=)
c.594A>C (p.Leu198Phe)
c.552+49384A>C (p.=)
n.504A>C (p.Leu168Phe)
c.597A>C (p.Leu199Phe)
c.382-51674A>C (p.=)
c.279A>C (p.Leu93Phe)
n.483+49384A>C (p.=)
c.666A>C (p.Leu222Phe)
c.663A>C (p.Leu221Phe)
c.207A>C (p.Leu69Phe)

Number of alleles fetched