Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43100645G>ACA376770430RETc.260G>A (p.Cys87Tyr)
c.162G>A
c.74-10562G>A (n.74-10562G>A)
c.74-11454G>A (n.74-11454G>A)
ClinVar dbSNP gnomAD v2
10g.43100645G>CCA376770431RETc.260G>C (p.Cys87Ser)
c.162G>C
c.74-10562G>C (n.74-10562G>C)
c.74-11454G>C (n.74-11454G>C)
dbSNP
10g.43100645G=CA1905836837RETc.260G= (p.Cys87=)
c.162G=
c.74-10562G= (n.74-10562G=)
c.74-11454G= (n.74-11454G=)
10g.43100645G>TCA376770432RETc.260G>T (p.Cys87Phe)
c.162G>T
c.74-10562G>T (n.74-10562G>T)
c.74-11454G>T (n.74-11454G>T)
dbSNP
10g.43100646C>ACA376770433RETc.261C>A (p.Cys87Ter)
c.163C>A
c.74-10561C>A (n.74-10561C>A)
c.74-11453C>A (n.74-11453C>A)
dbSNP
10g.43100646C>GCA376770434RETc.261C>G (p.Cys87Trp)
c.163C>G
c.74-10561C>G (n.74-10561C>G)
c.74-11453C>G (n.74-11453C>G)
dbSNP
10g.43100646C>TCA469490724RETc.261C>T (p.Cys87=)
c.163C>T
c.74-10561C>T (n.74-10561C>T)
c.74-11453C>T (n.74-11453C>T)
ClinVar dbSNP gnomAD v4
10g.43100647A=CA1905836838RETc.262A= (p.Ile88=)
c.164A=
c.74-10560A= (n.74-10560A=)
c.74-11452A= (n.74-11452A=)
10g.43100647A>CCA040257RETc.262A>C (p.Ile88Leu)
c.164A>C
c.74-10560A>C (n.74-10560A>C)
c.74-11452A>C (n.74-11452A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100647A>GCA008946RETc.262A>G (p.Ile88Val)
c.164A>G
c.74-10560A>G (n.74-10560A>G)
c.74-11452A>G (n.74-11452A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100647A>TCA376770435RETc.262A>T (p.Ile88Phe)
c.164A>T
c.74-10560A>T (n.74-10560A>T)
c.74-11452A>T (n.74-11452A>T)
dbSNP
10g.43100648T>ACA376770436RETc.263T>A (p.Ile88Asn)
c.165T>A
c.74-10559T>A (n.74-10559T>A)
c.74-11451T>A (n.74-11451T>A)
10g.43100648T>CCA376770437RETc.263T>C (p.Ile88Thr)
c.165T>C
c.74-10559T>C (n.74-10559T>C)
c.74-11451T>C (n.74-11451T>C)
10g.43100648T>GCA376770438RETc.263T>G (p.Ile88Ser)
c.165T>G
c.74-10559T>G (n.74-10559T>G)
c.74-11451T>G (n.74-11451T>G)
10g.43100649C>ACA469490737RETc.264C>A (p.Ile88=)
c.166C>A
c.74-10558C>A (n.74-10558C>A)
c.74-11450C>A (n.74-11450C>A)
dbSNP
10g.43100649C>GCA376770439RETc.264C>G (p.Ile88Met)
c.166C>G
c.74-10558C>G (n.74-10558C>G)
c.74-11450C>G (n.74-11450C>G)
dbSNP
10g.43100649C>TCA469490735RETc.264C>T (p.Ile88=)
c.166C>T
c.74-10558C>T (n.74-10558C>T)
c.74-11450C>T (n.74-11450C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100650C>ACA376770440RETc.265C>A (p.Gln89Lys)
c.167C>A
c.74-10557C>A (n.74-10557C>A)
c.74-11449C>A (n.74-11449C>A)
ClinVar dbSNP
10g.43100650C>GCA376770441RETc.265C>G (p.Gln89Glu)
c.167C>G
c.74-10557C>G (n.74-10557C>G)
c.74-11449C>G (n.74-11449C>G)
dbSNP
10g.43100650C>TCA376770442RETc.265C>T (p.Gln89Ter)
c.167C>T
c.74-10557C>T (n.74-10557C>T)
c.74-11449C>T (n.74-11449C>T)
dbSNP
10g.43100651A=CA1905836839RETc.266A= (p.Gln89=)
c.168A=
c.74-10556A= (n.74-10556A=)
c.74-11448A= (n.74-11448A=)
10g.43100651A>CCA376770445RETc.266A>C (p.Gln89Pro)
c.168A>C
c.74-10556A>C (n.74-10556A>C)
c.74-11448A>C (n.74-11448A>C)
10g.43100651A>GCA376770444RETc.266A>G (p.Gln89Arg)
c.168A>G
c.74-10556A>G (n.74-10556A>G)
c.74-11448A>G (n.74-11448A>G)
ClinVar dbSNP gnomAD v4
10g.43100651A>TCA376770443RETc.266A>T (p.Gln89Leu)
c.168A>T
c.74-10556A>T (n.74-10556A>T)
c.74-11448A>T (n.74-11448A>T)
dbSNP
10g.43100652G>ACA469490743RETc.267G>A (p.Gln89=)
c.169G>A
c.74-10555G>A (n.74-10555G>A)
c.74-11447G>A (n.74-11447G>A)
dbSNP
10g.43100652G>CCA376770446RETc.267G>C (p.Gln89His)
c.169G>C
c.74-10555G>C (n.74-10555G>C)
c.74-11447G>C (n.74-11447G>C)
dbSNP
10g.43100652G>TCA376770447RETc.267G>T (p.Gln89His)
c.169G>T
c.74-10555G>T (n.74-10555G>T)
c.74-11447G>T (n.74-11447G>T)
10g.43100653G>ACA376770448RETc.268G>A (p.Glu90Lys)
c.170G>A
c.74-10554G>A (n.74-10554G>A)
c.74-11446G>A (n.74-11446G>A)
dbSNP
10g.43100653G>CCA376770449RETc.268G>C (p.Glu90Gln)
c.170G>C
c.74-10554G>C (n.74-10554G>C)
c.74-11446G>C (n.74-11446G>C)
dbSNP
10g.43100653G=CA1905836840RETc.268G= (p.Glu90=)
c.170G=
c.74-10554G= (n.74-10554G=)
c.74-11446G= (n.74-11446G=)
10g.43100653G>TCA376770450RETc.268G>T (p.Glu90Ter)
c.170G>T
c.74-10554G>T (n.74-10554G>T)
c.74-11446G>T (n.74-11446G>T)
ClinVar dbSNP
10g.43100654A>CCA376770451RETc.269A>C (p.Glu90Ala)
c.171A>C
c.74-10553A>C (n.74-10553A>C)
c.74-11445A>C (n.74-11445A>C)
10g.43100654A>GCA376770452RETc.269A>G (p.Glu90Gly)
c.171A>G
c.74-10553A>G (n.74-10553A>G)
c.74-11445A>G (n.74-11445A>G)
ClinVar dbSNP
10g.43100654A>TCA376770453RETc.269A>T (p.Glu90Val)
c.171A>T
c.74-10553A>T (n.74-10553A>T)
c.74-11445A>T (n.74-11445A>T)
dbSNP
10g.43100655G>ACA040469RETc.270G>A (p.Glu90=)
c.172G>A
c.74-10552G>A (n.74-10552G>A)
c.74-11444G>A (n.74-11444G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100655G>CCA376770454RETc.270G>C (p.Glu90Asp)
c.172G>C
c.74-10552G>C (n.74-10552G>C)
c.74-11444G>C (n.74-11444G>C)
10g.43100655G=CA1905836841RETc.270G= (p.Glu90=)
c.172G=
c.74-10552G= (n.74-10552G=)
c.74-11444G= (n.74-11444G=)
10g.43100655G>TCA376770455RETc.270G>T (p.Glu90Asp)
c.172G>T
c.74-10552G>T (n.74-10552G>T)
c.74-11444G>T (n.74-11444G>T)
dbSNP
10g.43100656G>ACA376770458RETc.271G>A (p.Asp91Asn)
c.173G>A
c.74-10551G>A (n.74-10551G>A)
c.74-11443G>A (n.74-11443G>A)
dbSNP
10g.43100656G>CCA376770457RETc.271G>C (p.Asp91His)
c.173G>C
c.74-10551G>C (n.74-10551G>C)
c.74-11443G>C (n.74-11443G>C)
dbSNP
10g.43100656G>TCA376770456RETc.271G>T (p.Asp91Tyr)
c.173G>T
c.74-10551G>T (n.74-10551G>T)
c.74-11443G>T (n.74-11443G>T)
ClinVar dbSNP
10g.43100657A>CCA376770459RETc.272A>C (p.Asp91Ala)
c.174A>C
c.74-10550A>C (n.74-10550A>C)
c.74-11442A>C (n.74-11442A>C)
dbSNP
10g.43100657A>GCA376770460RETc.272A>G (p.Asp91Gly)
c.174A>G
c.74-10550A>G (n.74-10550A>G)
c.74-11442A>G (n.74-11442A>G)
dbSNP
10g.43100657A>TCA376770461RETc.272A>T (p.Asp91Val)
c.174A>T
c.74-10550A>T (n.74-10550A>T)
c.74-11442A>T (n.74-11442A>T)
dbSNP
10g.43100658C>ACA376770462RETc.273C>A (p.Asp91Glu)
c.175C>A
c.74-10549C>A (n.74-10549C>A)
c.74-11441C>A (n.74-11441C>A)
dbSNP
10g.43100658C=CA1905836842RETc.273C= (p.Asp91=)
c.175C=
c.74-10549C= (n.74-10549C=)
c.74-11441C= (n.74-11441C=)
10g.43100658C>GCA376770463RETc.273C>G (p.Asp91Glu)
c.175C>G
c.74-10549C>G (n.74-10549C>G)
c.74-11441C>G (n.74-11441C>G)
dbSNP
10g.43100658C>TCA040800RETc.273C>T (p.Asp91=)
c.175C>T
c.74-10549C>T (n.74-10549C>T)
c.74-11441C>T (n.74-11441C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100659A=CA1905836843RETc.274A= (p.Thr92=)
c.176A=
c.74-10548A= (n.74-10548A=)
c.74-11440A= (n.74-11440A=)
10g.43100659A>CCA376770464RETc.274A>C (p.Thr92Pro)
c.176A>C
c.74-10548A>C (n.74-10548A>C)
c.74-11440A>C (n.74-11440A>C)
dbSNP
10g.43100659A>GCA376770465RETc.274A>G (p.Thr92Ala)
c.176A>G
c.74-10548A>G (n.74-10548A>G)
c.74-11440A>G (n.74-11440A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100659A>TCA376770466RETc.274A>T (p.Thr92Ser)
c.176A>T
c.74-10548A>T (n.74-10548A>T)
c.74-11440A>T (n.74-11440A>T)
dbSNP
10g.43100660C>ACA376770467RETc.275C>A (p.Thr92Asn)
c.177C>A
c.74-10547C>A (n.74-10547C>A)
c.74-11439C>A (n.74-11439C>A)
10g.43100660C>GCA376770468RETc.275C>G (p.Thr92Ser)
c.177C>G
c.74-10547C>G (n.74-10547C>G)
c.74-11439C>G (n.74-11439C>G)
ClinVar dbSNP
10g.43100660C>TCA376770469RETc.275C>T (p.Thr92Ile)
c.177C>T
c.74-10547C>T (n.74-10547C>T)
c.74-11439C>T (n.74-11439C>T)
dbSNP COSMIC COSMIC
10g.43100661C>ACA469490767RETc.276C>A (p.Thr92=)
c.178C>A
c.74-10546C>A (n.74-10546C>A)
c.74-11438C>A (n.74-11438C>A)
dbSNP
10g.43100661C=CA1905836844RETc.276C= (p.Thr92=)
c.178C=
c.74-10546C= (n.74-10546C=)
c.74-11438C= (n.74-11438C=)
10g.43100661C>GCA469490766RETc.276C>G (p.Thr92=)
c.178C>G
c.74-10546C>G (n.74-10546C>G)
c.74-11438C>G (n.74-11438C>G)
ClinVar dbSNP
10g.43100661C>TCA10604721RETc.276C>T (p.Thr92=)
c.178C>T
c.74-10546C>T (n.74-10546C>T)
c.74-11438C>T (n.74-11438C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100662G>ACA376770471RETc.277G>A (p.Gly93Ser)
c.179G>A
c.74-10545G>A (n.74-10545G>A)
c.74-11437G>A (n.74-11437G>A)
ClinVar dbSNP gnomAD v2
10g.43100662G>CCA376770472RETc.277G>C (p.Gly93Arg)
c.179G>C
c.74-10545G>C (n.74-10545G>C)
c.74-11437G>C (n.74-11437G>C)
dbSNP
10g.43100662G=CA1905836845RETc.277G= (p.Gly93=)
c.179G=
c.74-10545G= (n.74-10545G=)
c.74-11437G= (n.74-11437G=)
10g.43100662G>TCA376770470RETc.277G>T (p.Gly93Cys)
c.179G>T
c.74-10545G>T (n.74-10545G>T)
c.74-11437G>T (n.74-11437G>T)
dbSNP
10g.43100663G>ACA376770474RETc.278G>A (p.Gly93Asp)
c.180G>A
c.74-10544G>A (n.74-10544G>A)
c.74-11436G>A (n.74-11436G>A)
ClinVar
10g.43100663G>CCA376770473RETc.278G>C (p.Gly93Ala)
c.180G>C
c.74-10544G>C (n.74-10544G>C)
c.74-11436G>C (n.74-11436G>C)
10g.43100663G>TCA376770475RETc.278G>T (p.Gly93Val)
c.180G>T
c.74-10544G>T (n.74-10544G>T)
c.74-11436G>T (n.74-11436G>T)
10g.43100664C>ACA469490773RETc.279C>A (p.Gly93=)
c.181C>A
c.74-10543C>A (n.74-10543C>A)
c.74-11435C>A (n.74-11435C>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100664C=CA1905836846RETc.279C= (p.Gly93=)
c.181C=
c.74-10543C= (n.74-10543C=)
c.74-11435C= (n.74-11435C=)
10g.43100664C>GCA469490774RETc.279C>G (p.Gly93=)
c.181C>G
c.74-10543C>G (n.74-10543C>G)
c.74-11435C>G (n.74-11435C>G)
dbSNP
10g.43100664C>TCA469490775RETc.279C>T (p.Gly93=)
c.181C>T
c.74-10543C>T (n.74-10543C>T)
c.74-11435C>T (n.74-11435C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100665C>ACA376770476RETc.280C>A (p.Leu94Ile)
c.182C>A
c.74-10542C>A (n.74-10542C>A)
c.74-11434C>A (n.74-11434C>A)
dbSNP
10g.43100665C=CA1905836847RETc.280C= (p.Leu94=)
c.182C=
c.74-10542C= (n.74-10542C=)
c.74-11434C= (n.74-11434C=)
10g.43100665C>GCA376770477RETc.280C>G (p.Leu94Val)
c.182C>G
c.74-10542C>G (n.74-10542C>G)
c.74-11434C>G (n.74-11434C>G)
ClinVar dbSNP
10g.43100665C>TCA376770478RETc.280C>T (p.Leu94Phe)
c.182C>T
c.74-10542C>T (n.74-10542C>T)
c.74-11434C>T (n.74-11434C>T)
dbSNP COSMIC COSMIC
10g.43100666T>ACA376770479RETc.281T>A (p.Leu94His)
c.183T>A
c.74-10541T>A (n.74-10541T>A)
c.74-11433T>A (n.74-11433T>A)
dbSNP
10g.43100666T>CCA376770480RETc.281T>C (p.Leu94Pro)
c.183T>C
c.74-10541T>C (n.74-10541T>C)
c.74-11433T>C (n.74-11433T>C)
dbSNP
10g.43100666T>GCA376770481RETc.281T>G (p.Leu94Arg)
c.183T>G
c.74-10541T>G (n.74-10541T>G)
c.74-11433T>G (n.74-11433T>G)
10g.43100667C>ACA469490780RETc.282C>A (p.Leu94=)
c.184C>A
c.74-10540C>A (n.74-10540C>A)
c.74-11432C>A (n.74-11432C>A)
dbSNP
10g.43100667C>GCA469490782RETc.282C>G (p.Leu94=)
c.184C>G
c.74-10540C>G (n.74-10540C>G)
c.74-11432C>G (n.74-11432C>G)
10g.43100667C>TCA469490783RETc.282C>T (p.Leu94=)
c.184C>T
c.74-10540C>T (n.74-10540C>T)
c.74-11432C>T (n.74-11432C>T)
ClinVar gnomAD v4 COSMIC COSMIC
10g.43100668C>ACA376770482RETc.283C>A (p.Leu95Ile)
c.185C>A
c.74-10539C>A (n.74-10539C>A)
c.74-11431C>A (n.74-11431C>A)
dbSNP
10g.43100668C>GCA376770483RETc.283C>G (p.Leu95Val)
c.185C>G
c.74-10539C>G (n.74-10539C>G)
c.74-11431C>G (n.74-11431C>G)
dbSNP
10g.43100668C>TCA376770484RETc.283C>T (p.Leu95Phe)
c.185C>T
c.74-10539C>T (n.74-10539C>T)
c.74-11431C>T (n.74-11431C>T)
10g.43100669T>ACA376770485RETc.284T>A (p.Leu95His)
c.186T>A
c.74-10538T>A (n.74-10538T>A)
c.74-11430T>A (n.74-11430T>A)
dbSNP
10g.43100669T>CCA376770486RETc.284T>C (p.Leu95Pro)
c.186T>C
c.74-10538T>C (n.74-10538T>C)
c.74-11430T>C (n.74-11430T>C)
dbSNP
10g.43100669T>GCA376770487RETc.284T>G (p.Leu95Arg)
c.186T>G
c.74-10538T>G (n.74-10538T>G)
c.74-11430T>G (n.74-11430T>G)
10g.43100670C>ACA469490788RETc.285C>A (p.Leu95=)
c.187C>A
c.74-10537C>A (n.74-10537C>A)
c.74-11429C>A (n.74-11429C>A)
10g.43100670C=CA1905836848RETc.285C= (p.Leu95=)
c.187C=
c.74-10537C= (n.74-10537C=)
c.74-11429C= (n.74-11429C=)
10g.43100670C>GCA469490790RETc.285C>G (p.Leu95=)
c.187C>G
c.74-10537C>G (n.74-10537C>G)
c.74-11429C>G (n.74-11429C>G)
dbSNP
10g.43100670C>TCA469490789RETc.285C>T (p.Leu95=)
c.187C>T
c.74-10537C>T (n.74-10537C>T)
c.74-11429C>T (n.74-11429C>T)
dbSNP
10g.43100671T>ACA376770490RETc.286T>A (p.Tyr96Asn)
c.188T>A
c.74-10536T>A (n.74-10536T>A)
c.74-11428T>A (n.74-11428T>A)
dbSNP
10g.43100671T>CCA376770488RETc.286T>C (p.Tyr96His)
c.188T>C
c.74-10536T>C (n.74-10536T>C)
c.74-11428T>C (n.74-11428T>C)
dbSNP
10g.43100671T>GCA376770489RETc.286T>G (p.Tyr96Asp)
c.188T>G
c.74-10536T>G (n.74-10536T>G)
c.74-11428T>G (n.74-11428T>G)
10g.43100672A>CCA376770491RETc.287A>C (p.Tyr96Ser)
c.189A>C
c.74-10535A>C (n.74-10535A>C)
c.74-11427A>C (n.74-11427A>C)
dbSNP gnomAD v4
10g.43100672A>GCA376770492RETc.287A>G (p.Tyr96Cys)
c.189A>G
c.74-10535A>G (n.74-10535A>G)
c.74-11427A>G (n.74-11427A>G)
dbSNP
10g.43100672A>TCA376770493RETc.287A>T (p.Tyr96Phe)
c.189A>T
c.74-10535A>T (n.74-10535A>T)
c.74-11427A>T (n.74-11427A>T)
dbSNP
10g.43100673C>ACA376770494RETc.288C>A (p.Tyr96Ter)
c.190C>A
c.74-10534C>A (n.74-10534C>A)
c.74-11426C>A (n.74-11426C>A)
dbSNP
10g.43100673C=CA1905836849RETc.288C= (p.Tyr96=)
c.190C=
c.74-10534C= (n.74-10534C=)
c.74-11426C= (n.74-11426C=)
10g.43100673C>GCA376770495RETc.288C>G (p.Tyr96Ter)
c.190C>G
c.74-10534C>G (n.74-10534C>G)
c.74-11426C>G (n.74-11426C>G)
dbSNP
10g.43100673C>TCA469490792RETc.288C>T (p.Tyr96=)
c.190C>T
c.74-10534C>T (n.74-10534C>T)
c.74-11426C>T (n.74-11426C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100674C>ACA376770496RETc.289C>A (p.Leu97Ile)
c.191C>A
c.74-10533C>A (n.74-10533C>A)
c.74-11425C>A (n.74-11425C>A)
10g.43100674C>GCA376770497RETc.289C>G (p.Leu97Val)
c.191C>G
c.74-10533C>G (n.74-10533C>G)
c.74-11425C>G (n.74-11425C>G)
ClinVar
10g.43100674C>TCA376770498RETc.289C>T (p.Leu97Phe)
c.191C>T
c.74-10533C>T (n.74-10533C>T)
c.74-11425C>T (n.74-11425C>T)
dbSNP
10g.43100675T>ACA376770499RETc.290T>A (p.Leu97His)
c.192T>A
c.74-10532T>A (n.74-10532T>A)
c.74-11424T>A (n.74-11424T>A)
dbSNP
10g.43100675T>CCA376770500RETc.290T>C (p.Leu97Pro)
c.192T>C
c.74-10532T>C (n.74-10532T>C)
c.74-11424T>C (n.74-11424T>C)
dbSNP
10g.43100675T>GCA376770501RETc.290T>G (p.Leu97Arg)
c.192T>G
c.74-10532T>G (n.74-10532T>G)
c.74-11424T>G (n.74-11424T>G)
dbSNP
10g.43100676T>ACA469490793RETc.291T>A (p.Leu97=)
c.193T>A
c.74-10531T>A (n.74-10531T>A)
c.74-11423T>A (n.74-11423T>A)
dbSNP
10g.43100676T>CCA469490794RETc.291T>C (p.Leu97=)
c.193T>C
c.74-10531T>C (n.74-10531T>C)
c.74-11423T>C (n.74-11423T>C)
dbSNP
10g.43100676T>GCA469490795RETc.291T>G (p.Leu97=)
c.193T>G
c.74-10531T>G (n.74-10531T>G)
c.74-11423T>G (n.74-11423T>G)
10g.43100676_43100677delCA645549192RETc.291_292del (p.Asn98ProfsTer6)
c.193_194del
c.74-10531_74-10530del (n.74-10531_74-10530del)
c.74-11423_74-11422del (n.74-11423_74-11422del)
COSMIC COSMIC
10g.43100677A>CCA376770503RETc.292A>C (p.Asn98His)
c.194A>C
c.74-10530A>C (n.74-10530A>C)
c.74-11422A>C (n.74-11422A>C)
dbSNP
10g.43100677A>GCA376770504RETc.292A>G (p.Asn98Asp)
c.194A>G
c.74-10530A>G (n.74-10530A>G)
c.74-11422A>G (n.74-11422A>G)
10g.43100677A>TCA376770502RETc.292A>T (p.Asn98Tyr)
c.194A>T
c.74-10530A>T (n.74-10530A>T)
c.74-11422A>T (n.74-11422A>T)
dbSNP
10g.43100678A>CCA376770505RETc.293A>C (p.Asn98Thr)
c.195A>C
c.74-10529A>C (n.74-10529A>C)
c.74-11421A>C (n.74-11421A>C)
dbSNP
10g.43100678A>GCA376770506RETc.293A>G (p.Asn98Ser)
c.195A>G
c.74-10529A>G (n.74-10529A>G)
c.74-11421A>G (n.74-11421A>G)
dbSNP
10g.43100678A>TCA376770507RETc.293A>T (p.Asn98Ile)
c.195A>T
c.74-10529A>T (n.74-10529A>T)
c.74-11421A>T (n.74-11421A>T)
dbSNP
10g.43100679C>ACA376770508RETc.294C>A (p.Asn98Lys)
c.196C>A
c.74-10528C>A (n.74-10528C>A)
c.74-11420C>A (n.74-11420C>A)
dbSNP
10g.43100679C=CA1905836850RETc.294C= (p.Asn98=)
c.196C=
c.74-10528C= (n.74-10528C=)
c.74-11420C= (n.74-11420C=)
10g.43100679C>GCA376770509RETc.294C>G (p.Asn98Lys)
c.196C>G
c.74-10528C>G (n.74-10528C>G)
c.74-11420C>G (n.74-11420C>G)
dbSNP
10g.43100679C>TCA469490796RETc.294C>T (p.Asn98=)
c.196C>T
c.74-10528C>T (n.74-10528C>T)
c.74-11420C>T (n.74-11420C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100680C>ACA469490797RETc.295C>A (p.Arg99=)
c.197C>A
c.74-10527C>A (n.74-10527C>A)
c.74-11419C>A (n.74-11419C>A)
dbSNP
10g.43100680C=CA1905836851RETc.295C= (p.Arg99=)
c.197C=
c.74-10527C= (n.74-10527C=)
c.74-11419C= (n.74-11419C=)
10g.43100680C>GCA376770510RETc.295C>G (p.Arg99Gly)
c.197C>G
c.74-10527C>G (n.74-10527C>G)
c.74-11419C>G (n.74-11419C>G)
dbSNP
10g.43100680C>TCA376770511RETc.295C>T (p.Arg99Trp)
c.197C>T
c.74-10527C>T (n.74-10527C>T)
c.74-11419C>T (n.74-11419C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100681G>ACA041821RETc.296G>A (p.Arg99Gln)
c.198G>A
c.74-10526G>A (n.74-10526G>A)
c.74-11418G>A (n.74-11418G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100681G>CCA376770512RETc.296G>C (p.Arg99Pro)
c.198G>C
c.74-10526G>C (n.74-10526G>C)
c.74-11418G>C (n.74-11418G>C)
dbSNP
10g.43100681G=CA1905836852RETc.296G= (p.Arg99=)
c.198G=
c.74-10526G= (n.74-10526G=)
c.74-11418G= (n.74-11418G=)
10g.43100681G>TCA376770513RETc.296G>T (p.Arg99Leu)
c.198G>T
c.74-10526G>T (n.74-10526G>T)
c.74-11418G>T (n.74-11418G>T)
10g.43100682G>ACA469490798RETc.297G>A (p.Arg99=)
c.199G>A
c.74-10525G>A (n.74-10525G>A)
c.74-11417G>A (n.74-11417G>A)
ClinVar dbSNP gnomAD v4
10g.43100682G>CCA469490800RETc.297G>C (p.Arg99=)
c.199G>C
c.74-10525G>C (n.74-10525G>C)
c.74-11417G>C (n.74-11417G>C)
dbSNP
10g.43100682G>TCA469490799RETc.297G>T (p.Arg99=)
c.199G>T
c.74-10525G>T (n.74-10525G>T)
c.74-11417G>T (n.74-11417G>T)
gnomAD v4
10g.43100683A>CCA376770514RETc.298A>C (p.Ser100Arg)
c.200A>C
c.74-10524A>C (n.74-10524A>C)
c.74-11416A>C (n.74-11416A>C)
10g.43100683A>GCA376770515RETc.298A>G (p.Ser100Gly)
c.200A>G
c.74-10524A>G (n.74-10524A>G)
c.74-11416A>G (n.74-11416A>G)
dbSNP
10g.43100683A>TCA376770516RETc.298A>T (p.Ser100Cys)
c.200A>T
c.74-10524A>T (n.74-10524A>T)
c.74-11416A>T (n.74-11416A>T)
dbSNP
10g.43100684G>ACA376770519RETc.299G>A (p.Ser100Asn)
c.201G>A
c.74-10523G>A (n.74-10523G>A)
c.74-11415G>A (n.74-11415G>A)
ClinVar dbSNP gnomAD v4
10g.43100684G>CCA376770518RETc.299G>C (p.Ser100Thr)
c.201G>C
c.74-10523G>C (n.74-10523G>C)
c.74-11415G>C (n.74-11415G>C)
dbSNP
10g.43100684G=CA1905836853RETc.299G= (p.Ser100=)
c.201G=
c.74-10523G= (n.74-10523G=)
c.74-11415G= (n.74-11415G=)
10g.43100684G>TCA376770517RETc.299G>T (p.Ser100Ile)
c.201G>T
c.74-10523G>T (n.74-10523G>T)
c.74-11415G>T (n.74-11415G>T)
gnomAD v4
10g.43100685C>ACA376770520RETc.300C>A (p.Ser100Arg)
c.202C>A
c.74-10522C>A (n.74-10522C>A)
c.74-11414C>A (n.74-11414C>A)
dbSNP
10g.43100685C=CA1905836854RETc.300C= (p.Ser100=)
c.202C=
c.74-10522C= (n.74-10522C=)
c.74-11414C= (n.74-11414C=)
10g.43100685C>GCA376770521RETc.300C>G (p.Ser100Arg)
c.202C>G
c.74-10522C>G (n.74-10522C>G)
c.74-11414C>G (n.74-11414C>G)
dbSNP
10g.43100685C>TCA206713122RETc.300C>T (p.Ser100=)
c.202C>T
c.74-10522C>T (n.74-10522C>T)
c.74-11414C>T (n.74-11414C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100686C>ACA376770522RETc.301C>A (p.Leu101Met)
c.203C>A
c.74-10521C>A (n.74-10521C>A)
c.74-11413C>A (n.74-11413C>A)
dbSNP
10g.43100686C>GCA376770523RETc.301C>G (p.Leu101Val)
c.203C>G
c.74-10521C>G (n.74-10521C>G)
c.74-11413C>G (n.74-11413C>G)
dbSNP
10g.43100686C>TCA469490801RETc.301C>T (p.Leu101=)
c.203C>T
c.74-10521C>T (n.74-10521C>T)
c.74-11413C>T (n.74-11413C>T)
dbSNP
10g.43100687T>ACA376770524RETc.302T>A (p.Leu101Gln)
c.204T>A
c.74-10520T>A (n.74-10520T>A)
c.74-11412T>A (n.74-11412T>A)
10g.43100687T>CCA376770525RETc.302T>C (p.Leu101Pro)
c.204T>C
c.74-10520T>C (n.74-10520T>C)
c.74-11412T>C (n.74-11412T>C)
dbSNP
10g.43100687T>GCA376770526RETc.302T>G (p.Leu101Arg)
c.204T>G
c.74-10520T>G (n.74-10520T>G)
c.74-11412T>G (n.74-11412T>G)
10g.43100688G>ACA469490802RETc.303G>A (p.Leu101=)
c.205G>A
c.74-10519G>A (n.74-10519G>A)
c.74-11411G>A (n.74-11411G>A)
dbSNP
10g.43100688G>CCA469490803RETc.303G>C (p.Leu101=)
c.205G>C
c.74-10519G>C (n.74-10519G>C)
c.74-11411G>C (n.74-11411G>C)
dbSNP
10g.43100688G=CA1905836855RETc.303G= (p.Leu101=)
c.205G=
c.74-10519G= (n.74-10519G=)
c.74-11411G= (n.74-11411G=)
10g.43100688G>TCA469490804RETc.303G>T (p.Leu101=)
c.205G>T
c.74-10519G>T (n.74-10519G>T)
c.74-11411G>T (n.74-11411G>T)
dbSNP gnomAD v2 gnomAD v4
10g.43100689G>ACA009176RETc.304G>A (p.Asp102Asn)
c.206G>A
c.74-10518G>A (n.74-10518G>A)
c.74-11410G>A (n.74-11410G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100689G>CCA376770527RETc.304G>C (p.Asp102His)
c.206G>C
c.74-10518G>C (n.74-10518G>C)
c.74-11410G>C (n.74-11410G>C)
ClinVar dbSNP
10g.43100689G=CA1905836856RETc.304G= (p.Asp102=)
c.206G=
c.74-10518G= (n.74-10518G=)
c.74-11410G= (n.74-11410G=)
10g.43100689G>TCA376770528RETc.304G>T (p.Asp102Tyr)
c.206G>T
c.74-10518G>T (n.74-10518G>T)
c.74-11410G>T (n.74-11410G>T)
gnomAD v4
10g.43100690A>CCA376770529RETc.305A>C (p.Asp102Ala)
c.207A>C
c.74-10517A>C (n.74-10517A>C)
c.74-11409A>C (n.74-11409A>C)
10g.43100690A>GCA376770530RETc.305A>G (p.Asp102Gly)
c.207A>G
c.74-10517A>G (n.74-10517A>G)
c.74-11409A>G (n.74-11409A>G)
10g.43100690A>TCA376770531RETc.305A>T (p.Asp102Val)
c.207A>T
c.74-10517A>T (n.74-10517A>T)
c.74-11409A>T (n.74-11409A>T)
10g.43100691C>ACA376770533RETc.306C>A (p.Asp102Glu)
c.208C>A
c.74-10516C>A (n.74-10516C>A)
c.74-11408C>A (n.74-11408C>A)
dbSNP gnomAD v4
10g.43100691C=CA1905836857RETc.306C= (p.Asp102=)
c.208C=
c.74-10516C= (n.74-10516C=)
c.74-11408C= (n.74-11408C=)
10g.43100691C>GCA376770532RETc.306C>G (p.Asp102Glu)
c.208C>G
c.74-10516C>G (n.74-10516C>G)
c.74-11408C>G (n.74-11408C>G)
dbSNP
10g.43100691C>TCA469490805RETc.306C>T (p.Asp102=)
c.208C>T
c.74-10516C>T (n.74-10516C>T)
c.74-11408C>T (n.74-11408C>T)
ClinVar dbSNP gnomAD v4
10g.43100692C>ACA376770534RETc.307C>A (p.His103Asn)
c.209C>A
c.74-10515C>A (n.74-10515C>A)
c.74-11407C>A (n.74-11407C>A)
dbSNP
10g.43100692C=CA1905836858RETc.307C= (p.His103=)
c.209C=
c.74-10515C= (n.74-10515C=)
c.74-11407C= (n.74-11407C=)
10g.43100692C>GCA376770536RETc.307C>G (p.His103Asp)
c.209C>G
c.74-10515C>G (n.74-10515C>G)
c.74-11407C>G (n.74-11407C>G)
dbSNP
10g.43100692C>TCA376770535RETc.307C>T (p.His103Tyr)
c.209C>T
c.74-10515C>T (n.74-10515C>T)
c.74-11407C>T (n.74-11407C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100693A=CA1905836859RETc.308A= (p.His103=)
c.210A=
c.74-10514A= (n.74-10514A=)
c.74-11406A= (n.74-11406A=)
10g.43100693A>CCA376770537RETc.308A>C (p.His103Pro)
c.210A>C
c.74-10514A>C (n.74-10514A>C)
c.74-11406A>C (n.74-11406A>C)
dbSNP
10g.43100693A>GCA042516RETc.308A>G (p.His103Arg)
c.210A>G
c.74-10514A>G (n.74-10514A>G)
c.74-11406A>G (n.74-11406A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100693A>TCA376770538RETc.308A>T (p.His103Leu)
c.210A>T
c.74-10514A>T (n.74-10514A>T)
c.74-11406A>T (n.74-11406A>T)
dbSNP
10g.43100694T>ACA376770539RETc.309T>A (p.His103Gln)
c.211T>A
c.74-10513T>A (n.74-10513T>A)
c.74-11405T>A (n.74-11405T>A)
dbSNP
10g.43100694T>CCA469490807RETc.309T>C (p.His103=)
c.211T>C
c.74-10513T>C (n.74-10513T>C)
c.74-11405T>C (n.74-11405T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100694T>GCA376770540RETc.309T>G (p.His103Gln)
c.211T>G
c.74-10513T>G (n.74-10513T>G)
c.74-11405T>G (n.74-11405T>G)
dbSNP
10g.43100694T=CA1905836860RETc.309T= (p.His103=)
c.211T=
c.74-10513T= (n.74-10513T=)
c.74-11405T= (n.74-11405T=)
10g.43100695A>CCA376770541RETc.310A>C (p.Ser104Arg)
c.212A>C
c.74-10512A>C (n.74-10512A>C)
c.74-11404A>C (n.74-11404A>C)
10g.43100695A>GCA376770542RETc.310A>G (p.Ser104Gly)
c.212A>G
c.74-10512A>G (n.74-10512A>G)
c.74-11404A>G (n.74-11404A>G)
dbSNP
10g.43100695A>TCA376770543RETc.310A>T (p.Ser104Cys)
c.212A>T
c.74-10512A>T (n.74-10512A>T)
c.74-11404A>T (n.74-11404A>T)
dbSNP
10g.43100696G>ACA376770544RETc.311G>A (p.Ser104Asn)
c.213G>A
c.74-10511G>A (n.74-10511G>A)
c.74-11403G>A (n.74-11403G>A)
10g.43100696G>CCA376770545RETc.311G>C (p.Ser104Thr)
c.213G>C
c.74-10511G>C (n.74-10511G>C)
c.74-11403G>C (n.74-11403G>C)
10g.43100696G>TCA376770546RETc.311G>T (p.Ser104Ile)
c.213G>T
c.74-10511G>T (n.74-10511G>T)
c.74-11403G>T (n.74-11403G>T)
10g.43100697C>ACA376770548RETc.312C>A (p.Ser104Arg)
c.214C>A
c.74-10510C>A (n.74-10510C>A)
c.74-11402C>A (n.74-11402C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100697C=CA1905836861RETc.312C= (p.Ser104=)
c.214C=
c.74-10510C= (n.74-10510C=)
c.74-11402C= (n.74-11402C=)
10g.43100697C>GCA376770547RETc.312C>G (p.Ser104Arg)
c.214C>G
c.74-10510C>G (n.74-10510C>G)
c.74-11402C>G (n.74-11402C>G)
dbSNP
10g.43100697C>TCA042709RETc.312C>T (p.Ser104=)
c.214C>T
c.74-10510C>T (n.74-10510C>T)
c.74-11402C>T (n.74-11402C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100698T>ACA376770549RETc.313T>A (p.Ser105Thr)
c.215T>A
c.74-10509T>A (n.74-10509T>A)
c.74-11401T>A (n.74-11401T>A)
dbSNP
10g.43100698T>CCA376770550RETc.313T>C (p.Ser105Pro)
c.215T>C
c.74-10509T>C (n.74-10509T>C)
c.74-11401T>C (n.74-11401T>C)
dbSNP
10g.43100698T>GCA376770551RETc.313T>G (p.Ser105Ala)
c.215T>G
c.74-10509T>G (n.74-10509T>G)
c.74-11401T>G (n.74-11401T>G)
10g.43100699C>ACA376770552RETc.314C>A (p.Ser105Tyr)
c.216C>A
c.74-10508C>A (n.74-10508C>A)
c.74-11400C>A (n.74-11400C>A)
dbSNP gnomAD v4
10g.43100699C=CA1905836862RETc.314C= (p.Ser105=)
c.216C=
c.74-10508C= (n.74-10508C=)
c.74-11400C= (n.74-11400C=)
10g.43100699C>GCA376770553RETc.314C>G (p.Ser105Cys)
c.216C>G
c.74-10508C>G (n.74-10508C>G)
c.74-11400C>G (n.74-11400C>G)
dbSNP
10g.43100699C>TCA376770554RETc.314C>T (p.Ser105Phe)
c.216C>T
c.74-10508C>T (n.74-10508C>T)
c.74-11400C>T (n.74-11400C>T)
ClinVar dbSNP gnomAD v4
10g.43100700C>ACA469490311RETc.315C>A (p.Ser105=)
c.217C>A
c.74-10507C>A (n.74-10507C>A)
c.74-11399C>A (n.74-11399C>A)
gnomAD v4
10g.43100700C>GCA469490314RETc.315C>G (p.Ser105=)
c.217C>G
c.74-10507C>G (n.74-10507C>G)
c.74-11399C>G (n.74-11399C>G)
dbSNP
10g.43100700C>TCA469490317RETc.315C>T (p.Ser105=)
c.217C>T
c.74-10507C>T (n.74-10507C>T)
c.74-11399C>T (n.74-11399C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100701T>ACA376770555RETc.316T>A (p.Trp106Arg)
c.218T>A
c.74-10506T>A (n.74-10506T>A)
c.74-11398T>A (n.74-11398T>A)
10g.43100701T>CCA376770556RETc.316T>C (p.Trp106Arg)
c.218T>C
c.74-10506T>C (n.74-10506T>C)
c.74-11398T>C (n.74-11398T>C)
10g.43100701T>GCA376770557RETc.316T>G (p.Trp106Gly)
c.218T>G
c.74-10506T>G (n.74-10506T>G)
c.74-11398T>G (n.74-11398T>G)
10g.43100702G>ACA376770558RETc.317G>A (p.Trp106Ter)
c.219G>A
c.74-10505G>A (n.74-10505G>A)
c.74-11397G>A (n.74-11397G>A)
ClinVar dbSNP
10g.43100702G>CCA376770559RETc.317G>C (p.Trp106Ser)
c.219G>C
c.74-10505G>C (n.74-10505G>C)
c.74-11397G>C (n.74-11397G>C)
dbSNP
10g.43100702G>TCA376770560RETc.317G>T (p.Trp106Leu)
c.219G>T
c.74-10505G>T (n.74-10505G>T)
c.74-11397G>T (n.74-11397G>T)
gnomAD v4
10g.43100703G>ACA376770562RETc.318G>A (p.Trp106Ter)
c.220G>A
c.74-10504G>A (n.74-10504G>A)
c.74-11396G>A (n.74-11396G>A)
ClinVar dbSNP COSMIC COSMIC
10g.43100703G>CCA376770563RETc.318G>C (p.Trp106Cys)
c.220G>C
c.74-10504G>C (n.74-10504G>C)
c.74-11396G>C (n.74-11396G>C)
10g.43100703G>TCA376770561RETc.318G>T (p.Trp106Cys)
c.220G>T
c.74-10504G>T (n.74-10504G>T)
c.74-11396G>T (n.74-11396G>T)
10g.43100704G>ACA206713123RETc.319G>A (p.Glu107Lys)
c.221G>A
c.74-10503G>A (n.74-10503G>A)
c.74-11395G>A (n.74-11395G>A)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
10g.43100704G>CCA376770564RETc.319G>C (p.Glu107Gln)
c.221G>C
c.74-10503G>C (n.74-10503G>C)
c.74-11395G>C (n.74-11395G>C)
10g.43100704G=CA1905836863RETc.319G= (p.Glu107=)
c.221G=
c.74-10503G= (n.74-10503G=)
c.74-11395G= (n.74-11395G=)
10g.43100704G>TCA376770565RETc.319G>T (p.Glu107Ter)
c.221G>T
c.74-10503G>T (n.74-10503G>T)
c.74-11395G>T (n.74-11395G>T)
gnomAD v4
10g.43100705A>CCA376770566RETc.320A>C (p.Glu107Ala)
c.222A>C
c.74-10502A>C (n.74-10502A>C)
c.74-11394A>C (n.74-11394A>C)
10g.43100705A>GCA376770567RETc.320A>G (p.Glu107Gly)
c.222A>G
c.74-10502A>G (n.74-10502A>G)
c.74-11394A>G (n.74-11394A>G)
ClinVar dbSNP
10g.43100705A>TCA376770568RETc.320A>T (p.Glu107Val)
c.222A>T
c.74-10502A>T (n.74-10502A>T)
c.74-11394A>T (n.74-11394A>T)
dbSNP
10g.43100706G>ACA469490323RETc.321G>A (p.Glu107=)
c.223G>A
c.74-10501G>A (n.74-10501G>A)
c.74-11393G>A (n.74-11393G>A)
dbSNP
10g.43100706G>CCA376770569RETc.321G>C (p.Glu107Asp)
c.223G>C
c.74-10501G>C (n.74-10501G>C)
c.74-11393G>C (n.74-11393G>C)
dbSNP
10g.43100706G>TCA376770570RETc.321G>T (p.Glu107Asp)
c.223G>T
c.74-10501G>T (n.74-10501G>T)
c.74-11393G>T (n.74-11393G>T)
10g.43100707A=CA1905836864RETc.322A= (p.Lys108=)
c.224A=
c.74-10500A= (n.74-10500A=)
c.74-11392A= (n.74-11392A=)
10g.43100707A>CCA043092RETc.322A>C (p.Lys108Gln)
c.224A>C
c.74-10500A>C (n.74-10500A>C)
c.74-11392A>C (n.74-11392A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100707A>GCA376770571RETc.322A>G (p.Lys108Glu)
c.224A>G
c.74-10500A>G (n.74-10500A>G)
c.74-11392A>G (n.74-11392A>G)
ClinVar dbSNP
10g.43100707A>TCA376770572RETc.322A>T (p.Lys108Ter)
c.224A>T
c.74-10500A>T (n.74-10500A>T)
c.74-11392A>T (n.74-11392A>T)
10g.43100708A>CCA376770573RETc.323A>C (p.Lys108Thr)
c.225A>C
c.74-10499A>C (n.74-10499A>C)
c.74-11391A>C (n.74-11391A>C)
10g.43100708A>GCA376770574RETc.323A>G (p.Lys108Arg)
c.225A>G
c.74-10499A>G (n.74-10499A>G)
c.74-11391A>G (n.74-11391A>G)
dbSNP
10g.43100708A>TCA376770575RETc.323A>T (p.Lys108Met)
c.225A>T
c.74-10499A>T (n.74-10499A>T)
c.74-11391A>T (n.74-11391A>T)
dbSNP
10g.43100709G>ACA469490334RETc.324G>A (p.Lys108=)
c.226G>A
c.74-10498G>A (n.74-10498G>A)
c.74-11390G>A (n.74-11390G>A)
gnomAD v4
10g.43100709G>CCA043105RETc.324G>C (p.Lys108Asn)
c.226G>C
c.74-10498G>C (n.74-10498G>C)
c.74-11390G>C (n.74-11390G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100709G=CA1905836865RETc.324G= (p.Lys108=)
c.226G=
c.74-10498G= (n.74-10498G=)
c.74-11390G= (n.74-11390G=)
10g.43100709G>TCA376770576RETc.324G>T (p.Lys108Asn)
c.226G>T
c.74-10498G>T (n.74-10498G>T)
c.74-11390G>T (n.74-11390G>T)
gnomAD v4
10g.43100710C>ACA376770577RETc.325C>A (p.Leu109Ile)
c.227C>A
c.74-10497C>A (n.74-10497C>A)
c.74-11389C>A (n.74-11389C>A)
dbSNP gnomAD v4
10g.43100710C>GCA376770578RETc.325C>G (p.Leu109Val)
c.227C>G
c.74-10497C>G (n.74-10497C>G)
c.74-11389C>G (n.74-11389C>G)
dbSNP
10g.43100710C>TCA376770579RETc.325C>T (p.Leu109Phe)
c.227C>T
c.74-10497C>T (n.74-10497C>T)
c.74-11389C>T (n.74-11389C>T)
dbSNP gnomAD v4
10g.43100711T>ACA376770580RETc.326T>A (p.Leu109His)
c.228T>A
c.74-10496T>A (n.74-10496T>A)
c.74-11388T>A (n.74-11388T>A)
dbSNP
10g.43100711T>CCA376770581RETc.326T>C (p.Leu109Pro)
c.228T>C
c.74-10496T>C (n.74-10496T>C)
c.74-11388T>C (n.74-11388T>C)
dbSNP gnomAD v4
10g.43100711T>GCA376770582RETc.326T>G (p.Leu109Arg)
c.228T>G
c.74-10496T>G (n.74-10496T>G)
c.74-11388T>G (n.74-11388T>G)
10g.43100712C>ACA469490337RETc.327C>A (p.Leu109=)
c.229C>A
c.74-10495C>A (n.74-10495C>A)
c.74-11387C>A (n.74-11387C>A)
dbSNP
10g.43100712C=CA1905836866RETc.327C= (p.Leu109=)
c.229C=
c.74-10495C= (n.74-10495C=)
c.74-11387C= (n.74-11387C=)
10g.43100712C>GCA043121RETc.327C>G (p.Leu109=)
c.229C>G
c.74-10495C>G (n.74-10495C>G)
c.74-11387C>G (n.74-11387C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100712C>TCA469490340RETc.327C>T (p.Leu109=)
c.229C>T
c.74-10495C>T (n.74-10495C>T)
c.74-11387C>T (n.74-11387C>T)
dbSNP gnomAD v4
10g.43100713A=CA1905836867RETc.328A= (p.Ser110=)
c.230A=
c.74-10494A= (n.74-10494A=)
c.74-11386A= (n.74-11386A=)
10g.43100713A>CCA376770583RETc.328A>C (p.Ser110Arg)
c.230A>C
c.74-10494A>C (n.74-10494A>C)
c.74-11386A>C (n.74-11386A>C)
ClinVar gnomAD v4
10g.43100713A>GCA376770585RETc.328A>G (p.Ser110Gly)
c.230A>G
c.74-10494A>G (n.74-10494A>G)
c.74-11386A>G (n.74-11386A>G)
dbSNP gnomAD v2 gnomAD v4
10g.43100713A>TCA376770584RETc.328A>T (p.Ser110Cys)
c.230A>T
c.74-10494A>T (n.74-10494A>T)
c.74-11386A>T (n.74-11386A>T)
dbSNP gnomAD v4
10g.43100714G>ACA043134RETc.329G>A (p.Ser110Asn)
c.231G>A
c.74-10493G>A (n.74-10493G>A)
c.74-11385G>A (n.74-11385G>A)
ClinVar dbSNP ExAC gnomAD v4
10g.43100714G>CCA376770586RETc.329G>C (p.Ser110Thr)
c.231G>C
c.74-10493G>C (n.74-10493G>C)
c.74-11385G>C (n.74-11385G>C)
dbSNP
10g.43100714G=CA1905836868RETc.329G= (p.Ser110=)
c.231G=
c.74-10493G= (n.74-10493G=)
c.74-11385G= (n.74-11385G=)
10g.43100714G>TCA376770587RETc.329G>T (p.Ser110Ile)
c.231G>T
c.74-10493G>T (n.74-10493G>T)
c.74-11385G>T (n.74-11385G>T)
10g.43100715T>ACA376770588RETc.330T>A (p.Ser110Arg)
c.232T>A
c.74-10492T>A (n.74-10492T>A)
c.74-11384T>A (n.74-11384T>A)
dbSNP
10g.43100715T>CCA469490344RETc.330T>C (p.Ser110=)
c.232T>C
c.74-10492T>C (n.74-10492T>C)
c.74-11384T>C (n.74-11384T>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100715T>GCA376770589RETc.330T>G (p.Ser110Arg)
c.232T>G
c.74-10492T>G (n.74-10492T>G)
c.74-11384T>G (n.74-11384T>G)
dbSNP gnomAD v2 gnomAD v4
10g.43100715T=CA1905836869RETc.330T= (p.Ser110=)
c.232T=
c.74-10492T= (n.74-10492T=)
c.74-11384T= (n.74-11384T=)
10g.43100716G>ACA376770591RETc.331G>A (p.Val111Ile)
c.233G>A
c.74-10491G>A (n.74-10491G>A)
c.74-11383G>A (n.74-11383G>A)
dbSNP gnomAD v4
10g.43100716G>CCA376770592RETc.331G>C (p.Val111Leu)
c.233G>C
c.74-10491G>C (n.74-10491G>C)
c.74-11383G>C (n.74-11383G>C)
dbSNP
10g.43100716G>TCA376770590RETc.331G>T (p.Val111Phe)
c.233G>T
c.74-10491G>T (n.74-10491G>T)
c.74-11383G>T (n.74-11383G>T)
dbSNP gnomAD v4
10g.43100717T>ACA376770594RETc.332T>A (p.Val111Asp)
c.234T>A
c.74-10490T>A (n.74-10490T>A)
c.74-11382T>A (n.74-11382T>A)
dbSNP COSMIC COSMIC
10g.43100717T>CCA376770593RETc.332T>C (p.Val111Ala)
c.234T>C
c.74-10490T>C (n.74-10490T>C)
c.74-11382T>C (n.74-11382T>C)
10g.43100717T>GCA376770595RETc.332T>G (p.Val111Gly)
c.234T>G
c.74-10490T>G (n.74-10490T>G)
c.74-11382T>G (n.74-11382T>G)
ClinVar dbSNP
10g.43100717T=CA1905836870RETc.332T= (p.Val111=)
c.234T=
c.74-10490T= (n.74-10490T=)
c.74-11382T= (n.74-11382T=)
10g.43100718C>ACA469490353RETc.333C>A (p.Val111=)
c.235C>A
c.74-10489C>A (n.74-10489C>A)
c.74-11381C>A (n.74-11381C>A)
dbSNP gnomAD v4
10g.43100718C=CA1905836871RETc.333C= (p.Val111=)
c.235C=
c.74-10489C= (n.74-10489C=)
c.74-11381C= (n.74-11381C=)
10g.43100718C>GCA043149RETc.333C>G (p.Val111=)
c.235C>G
c.74-10489C>G (n.74-10489C>G)
c.74-11381C>G (n.74-11381C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100718C>TCA469490354RETc.333C>T (p.Val111=)
c.235C>T
c.74-10489C>T (n.74-10489C>T)
c.74-11381C>T (n.74-11381C>T)
ClinVar dbSNP
10g.43100719C>ACA376770597RETc.334C>A (p.Arg112Ser)
c.236C>A
c.74-10488C>A (n.74-10488C>A)
c.74-11380C>A (n.74-11380C>A)
dbSNP gnomAD v4
10g.43100719C=CA1905836872RETc.334C= (p.Arg112=)
c.236C=
c.74-10488C= (n.74-10488C=)
c.74-11380C= (n.74-11380C=)
10g.43100719C>GCA376770596RETc.334C>G (p.Arg112Gly)
c.236C>G
c.74-10488C>G (n.74-10488C>G)
c.74-11380C>G (n.74-11380C>G)
dbSNP gnomAD v4
10g.43100719C>TCA043169RETc.334C>T (p.Arg112Cys)
c.236C>T
c.74-10488C>T (n.74-10488C>T)
c.74-11380C>T (n.74-11380C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100720G>ACA009221RETc.335G>A (p.Arg112His)
c.237G>A
c.74-10487G>A (n.74-10487G>A)
c.74-11379G>A (n.74-11379G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100720G>CCA376770599RETc.335G>C (p.Arg112Pro)
c.237G>C
c.74-10487G>C (n.74-10487G>C)
c.74-11379G>C (n.74-11379G>C)
dbSNP
10g.43100720G=CA1905836873RETc.335G= (p.Arg112=)
c.237G=
c.74-10487G= (n.74-10487G=)
c.74-11379G= (n.74-11379G=)
10g.43100720G>TCA376770598RETc.335G>T (p.Arg112Leu)
c.237G>T
c.74-10487G>T (n.74-10487G>T)
c.74-11379G>T (n.74-11379G>T)
ClinVar dbSNP gnomAD v4
10g.43100721C>ACA469490359RETc.336C>A (p.Arg112=)
c.238C>A
c.74-10486C>A (n.74-10486C>A)
c.74-11378C>A (n.74-11378C>A)
ClinVar dbSNP gnomAD v4
10g.43100721C>GCA469490360RETc.336C>G (p.Arg112=)
c.238C>G
c.74-10486C>G (n.74-10486C>G)
c.74-11378C>G (n.74-11378C>G)
dbSNP
10g.43100721C>TCA469490361RETc.336C>T (p.Arg112=)
c.238C>T
c.74-10486C>T (n.74-10486C>T)
c.74-11378C>T (n.74-11378C>T)
ClinVar dbSNP
10g.43100722A=CA1905836874RETc.337A= (p.Asn113=)
c.239A=
c.74-10485A= (n.74-10485A=)
c.74-11377A= (n.74-11377A=)
10g.43100722A>CCA376770600RETc.337A>C (p.Asn113His)
c.239A>C
c.74-10485A>C (n.74-10485A>C)
c.74-11377A>C (n.74-11377A>C)
10g.43100722A>GCA376770602RETc.337A>G (p.Asn113Asp)
c.239A>G
c.74-10485A>G (n.74-10485A>G)
c.74-11377A>G (n.74-11377A>G)
ClinVar dbSNP gnomAD v2
10g.43100722A>TCA376770601RETc.337A>T (p.Asn113Tyr)
c.239A>T
c.74-10485A>T (n.74-10485A>T)
c.74-11377A>T (n.74-11377A>T)
dbSNP gnomAD v4
10g.43100723G>ACA376770603RETc.337+1G>A (n.337+1G>A)
c.239+1G>A
c.74-10484G>A (n.74-10484G>A)
c.74-11376G>A (n.74-11376G>A)
dbSNP gnomAD v2 gnomAD v4
10g.43100723G>CCA376770604RETc.337+1G>C (n.337+1G>C)
c.239+1G>C
c.74-10484G>C (n.74-10484G>C)
c.74-11376G>C (n.74-11376G>C)
dbSNP
10g.43100723G=CA1905836875RETc.337+1G= (n.337+1G=)
c.239+1G=
c.74-10484G= (n.74-10484G=)
c.74-11376G= (n.74-11376G=)
10g.43100723G>TCA376770605RETc.337+1G>T (n.337+1G>T)
c.239+1G>T
c.74-10484G>T (n.74-10484G>T)
c.74-11376G>T (n.74-11376G>T)
COSMIC COSMIC
10g.43100724T>ACA376770606RETc.337+2T>A (n.337+2T>A)
c.239+2T>A
c.74-10483T>A (n.74-10483T>A)
c.74-11375T>A (n.74-11375T>A)
dbSNP
10g.43100724T>CCA376770607RETc.337+2T>C (n.337+2T>C)
c.239+2T>C
c.74-10483T>C (n.74-10483T>C)
c.74-11375T>C (n.74-11375T>C)
dbSNP
10g.43100724T>GCA376770608RETc.337+2T>G (n.337+2T>G)
c.239+2T>G
c.74-10483T>G (n.74-10483T>G)
c.74-11375T>G (n.74-11375T>G)
dbSNP
10g.43100725A>CCA2549264270RETc.337+3A>C (n.337+3A>C)
c.239+3A>C
c.74-10482A>C (n.74-10482A>C)
c.74-11374A>C (n.74-11374A>C)
10g.43100725A>GCA2608894366RETc.337+3A>G (n.337+3A>G)
c.239+3A>G
c.74-10482A>G (n.74-10482A>G)
c.74-11374A>G (n.74-11374A>G)
dbSNP gnomAD v4
10g.43100726delCA2608894365RETc.337+4del (n.337+4del)
c.239+4del
c.74-10481del (n.74-10481del)
c.74-11373del (n.74-11373del)
gnomAD v4
10g.43100726A>GCA2721856947RETc.337+4A>G (n.337+4A>G)
c.239+4A>G
c.74-10481A>G (n.74-10481A>G)
c.74-11373A>G (n.74-11373A>G)
dbSNP
10g.43100726A>TCA2608894367RETc.337+4A>T (n.337+4A>T)
c.239+4A>T
c.74-10481A>T (n.74-10481A>T)
c.74-11373A>T (n.74-11373A>T)
dbSNP gnomAD v4
10g.43100727G>ACA2608894368RETc.337+5G>A (n.337+5G>A)
c.239+5G>A
c.74-10480G>A (n.74-10480G>A)
c.74-11372G>A (n.74-11372G>A)
gnomAD v4
10g.43100727G>CCA2695211969RETc.337+5G>C (n.337+5G>C)
c.239+5G>C
c.74-10480G>C (n.74-10480G>C)
c.74-11372G>C (n.74-11372G>C)
10g.43100727G>TCA2608894369RETc.337+5G>T (n.337+5G>T)
c.239+5G>T
c.74-10480G>T (n.74-10480G>T)
c.74-11372G>T (n.74-11372G>T)
gnomAD v4
10g.43100727_43100728insCATCCCTCA2721856954RETc.337+5_337+6insCATCCCT (n.337+5_337+6insCATCCCT)
c.239+5_239+6insCATCCCT
c.74-10480_74-10479insCATCCCT (n.74-10480_74-10479insCATCCCT)
c.74-11372_74-11371insCATCCCT (n.74-11372_74-11371insCATCCCT)
dbSNP
10g.43100728G>ACA043232RETc.337+6G>A (n.337+6G>A)
c.239+6G>A
c.74-10479G>A (n.74-10479G>A)
c.74-11371G>A (n.74-11371G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100728G>CCA2721530822RETc.337+6G>C (n.337+6G>C)
c.239+6G>C
c.74-10479G>C (n.74-10479G>C)
c.74-11371G>C (n.74-11371G>C)
dbSNP
10g.43100728G=CA1905836876RETc.337+6G= (n.337+6G=)
c.239+6G=
c.74-10479G= (n.74-10479G=)
c.74-11371G= (n.74-11371G=)
10g.43100729G>ACA593292826RETc.337+7G>A (n.337+7G>A)
c.239+7G>A
c.74-10478G>A (n.74-10478G>A)
c.74-11370G>A (n.74-11370G>A)
dbSNP gnomAD v2
10g.43100729G>CCA2721580797RETc.337+7G>C (n.337+7G>C)
c.239+7G>C
c.74-10478G>C (n.74-10478G>C)
c.74-11370G>C (n.74-11370G>C)
dbSNP
10g.43100729G=CA1905836877RETc.337+7G= (n.337+7G=)
c.239+7G=
c.74-10478G= (n.74-10478G=)
c.74-11370G= (n.74-11370G=)
10g.43100730A=CA1905836878RETc.337+8A= (n.337+8A=)
c.239+8A=
c.74-10477A= (n.74-10477A=)
c.74-11369A= (n.74-11369A=)
10g.43100730A>CCA593292827RETc.337+8A>C (n.337+8A>C)
c.239+8A>C
c.74-10477A>C (n.74-10477A>C)
c.74-11369A>C (n.74-11369A>C)
dbSNP gnomAD v2 gnomAD v4
10g.43100730A>GCA2608894370RETc.337+8A>G (n.337+8A>G)
c.239+8A>G
c.74-10477A>G (n.74-10477A>G)
c.74-11369A>G (n.74-11369A>G)
dbSNP gnomAD v4
10g.43100730A>TCA593292828RETc.337+8A>T (n.337+8A>T)
c.239+8A>T
c.74-10477A>T (n.74-10477A>T)
c.74-11369A>T (n.74-11369A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100730_43100731delinsTACA2580081482RETc.337+8_337+9delinsTA (n.337+8_337+9delinsTA)
c.239+8_239+9delinsTA
c.74-10477_74-10476delinsTA (n.74-10477_74-10476delinsTA)
c.74-11369_74-11368delinsTA (n.74-11369_74-11368delinsTA)
ClinVar
10g.43100731G>ACA009228RETc.337+9G>A (n.337+9G>A)
c.239+9G>A
c.74-10476G>A (n.74-10476G>A)
c.74-11368G>A (n.74-11368G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100731G>CCA2580931007RETc.337+9G>C (n.337+9G>C)
c.239+9G>C
c.74-10476G>C (n.74-10476G>C)
c.74-11368G>C (n.74-11368G>C)
10g.43100731G=CA1630848212RETc.337+9G= (n.337+9G=)
c.239+9G=
c.74-10476G= (n.74-10476G=)
c.74-11368G= (n.74-11368G=)
10g.43100731G>TCA2580931008RETc.337+9G>T (n.337+9G>T)
c.239+9G>T
c.74-10476G>T (n.74-10476G>T)
c.74-11368G>T (n.74-11368G>T)
gnomAD v4
10g.43100734_43100736delCA2580615454RETc.337+12_337+14del (n.337+12_337+14del)
c.239+12_239+14del
c.74-10473_74-10471del (n.74-10473_74-10471del)
c.74-11365_74-11363del (n.74-11365_74-11363del)
ClinVar dbSNP gnomAD v4
10g.43100732C>ACA2608894371RETc.337+10C>A (n.337+10C>A)
c.239+10C>A
c.74-10475C>A (n.74-10475C>A)
c.74-11367C>A (n.74-11367C>A)
dbSNP gnomAD v4
10g.43100732C=CA1905836879RETc.337+10C= (n.337+10C=)
c.239+10C=
c.74-10475C= (n.74-10475C=)
c.74-11367C= (n.74-11367C=)
10g.43100732C>GCA2721616757RETc.337+10C>G (n.337+10C>G)
c.239+10C>G
c.74-10475C>G (n.74-10475C>G)
c.74-11367C>G (n.74-11367C>G)
dbSNP
10g.43100732C>TCA1905836880RETc.337+10C>T (n.337+10C>T)
c.239+10C>T
c.74-10475C>T (n.74-10475C>T)
c.74-11367C>T (n.74-11367C>T)
ClinVar dbSNP gnomAD v4
10g.43100733C>ACA2573145054RETc.337+11C>A (n.337+11C>A)
c.239+11C>A
c.74-10474C>A (n.74-10474C>A)
c.74-11366C>A (n.74-11366C>A)
ClinVar dbSNP gnomAD v4
10g.43100733C=CA1905836881RETc.337+11C= (n.337+11C=)
c.239+11C=
c.74-10474C= (n.74-10474C=)
c.74-11366C= (n.74-11366C=)
10g.43100733C>GCA2832589221RETc.337+11C>G (n.337+11C>G)
c.239+11C>G
c.74-10474C>G (n.74-10474C>G)
c.74-11366C>G (n.74-11366C>G)
10g.43100733C>TCA043177RETc.337+11C>T (n.337+11C>T)
c.239+11C>T
c.74-10474C>T (n.74-10474C>T)
c.74-11366C>T (n.74-11366C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100734G>ACA043185RETc.337+12G>A (n.337+12G>A)
c.239+12G>A
c.74-10473G>A (n.74-10473G>A)
c.74-11365G>A (n.74-11365G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100734G=CA1905836882RETc.337+12G= (n.337+12G=)
c.239+12G=
c.74-10473G= (n.74-10473G=)
c.74-11365G= (n.74-11365G=)
10g.43100734G>TCA653277009RETc.337+12G>T (n.337+12G>T)
c.239+12G>T
c.74-10473G>T (n.74-10473G>T)
c.74-11365G>T (n.74-11365G>T)
gnomAD v4 COSMIC
10g.43100735C>ACA2608894374RETc.337+13C>A (n.337+13C>A)
c.239+13C>A
c.74-10472C>A (n.74-10472C>A)
c.74-11364C>A (n.74-11364C>A)
dbSNP gnomAD v4
10g.43100735C=CA1905836884RETc.337+13C= (n.337+13C=)
c.239+13C=
c.74-10472C= (n.74-10472C=)
c.74-11364C= (n.74-11364C=)
10g.43100735C>GCA2721525608RETc.337+13C>G (n.337+13C>G)
c.239+13C>G
c.74-10472C>G (n.74-10472C>G)
c.74-11364C>G (n.74-11364C>G)
dbSNP
10g.43100735C>TCA206713124RETc.337+13C>T (n.337+13C>T)
c.239+13C>T
c.74-10472C>T (n.74-10472C>T)
c.74-11364C>T (n.74-11364C>T)
dbSNP gnomAD v4
10g.43100738delCA2608894373RETc.337+16del (n.337+16del)
c.239+16del
c.74-10469del (n.74-10469del)
c.74-11361del (n.74-11361del)
gnomAD v4
10g.43100739_43100750dupCA1905836883RETc.337+17_337+28dup (n.337+17_337+28dup)
c.239+17_239+28dup
c.74-10468_74-10457dup (n.74-10468_74-10457dup)
c.74-11360_74-11349dup (n.74-11360_74-11349dup)
ClinVar dbSNP
10g.43100736C>ACA2574531824RETc.337+14C>A (n.337+14C>A)
c.239+14C>A
c.74-10471C>A (n.74-10471C>A)
c.74-11363C>A (n.74-11363C>A)
dbSNP gnomAD v4
10g.43100736C>GCA2608894375RETc.337+14C>G (n.337+14C>G)
c.239+14C>G
c.74-10471C>G (n.74-10471C>G)
c.74-11363C>G (n.74-11363C>G)
dbSNP gnomAD v4
10g.43100737C>ACA2608894378RETc.337+15C>A (n.337+15C>A)
c.239+15C>A
c.74-10470C>A (n.74-10470C>A)
c.74-11362C>A (n.74-11362C>A)
dbSNP gnomAD v4
10g.43100737C>GCA2608894376RETc.337+15C>G (n.337+15C>G)
c.239+15C>G
c.74-10470C>G (n.74-10470C>G)
c.74-11362C>G (n.74-11362C>G)
dbSNP gnomAD v4
10g.43100737C>TCA2608894377RETc.337+15C>T (n.337+15C>T)
c.239+15C>T
c.74-10470C>T (n.74-10470C>T)
c.74-11362C>T (n.74-11362C>T)
dbSNP gnomAD v4
10g.43100738C>ACA2608894379RETc.337+16C>A (n.337+16C>A)
c.239+16C>A
c.74-10469C>A (n.74-10469C>A)
c.74-11361C>A (n.74-11361C>A)
dbSNP gnomAD v4
10g.43100738C=CA1905836886RETc.337+16C= (n.337+16C=)
c.239+16C=
c.74-10469C= (n.74-10469C=)
c.74-11361C= (n.74-11361C=)
10g.43100738C>TCA593292829RETc.337+16C>T (n.337+16C>T)
c.239+16C>T
c.74-10469C>T (n.74-10469C>T)
c.74-11361C>T (n.74-11361C>T)
dbSNP gnomAD v2 gnomAD v4
10g.43100738_43100739delinsCACA1905836885RETc.337+16_337+17delinsCA (n.337+16_337+17delinsCA)
c.239+16_239+17delinsCA
c.74-10469_74-10468delinsCA (n.74-10469_74-10468delinsCA)
c.74-11361_74-11360delinsCA (n.74-11361_74-11360delinsCA)
10g.43100739A>CCA927692853RETc.337+17A>C (n.337+17A>C)
c.239+17A>C
c.74-10468A>C (n.74-10468A>C)
c.74-11360A>C (n.74-11360A>C)
dbSNP gnomAD v3 gnomAD v4
10g.43100739A>GCA2608894380RETc.337+17A>G (n.337+17A>G)
c.239+17A>G
c.74-10468A>G (n.74-10468A>G)
c.74-11360A>G (n.74-11360A>G)
dbSNP gnomAD v4
10g.43100739A>TCA2608894381RETc.337+17A>T (n.337+17A>T)
c.239+17A>T
c.74-10468A>T (n.74-10468A>T)
c.74-11360A>T (n.74-11360A>T)
dbSNP gnomAD v4
10g.43100740delCA043196RETc.337+18del (n.337+18del)
c.239+18del
c.74-10467del (n.74-10467del)
c.74-11359del (n.74-11359del)
dbSNP ExAC
10g.43100740A>CCA927692856RETc.337+18A>C (n.337+18A>C)
c.239+18A>C
c.74-10467A>C (n.74-10467A>C)
c.74-11359A>C (n.74-11359A>C)
gnomAD v3 gnomAD v4
10g.43100740A>GCA2721859473RETc.337+18A>G (n.337+18A>G)
c.239+18A>G
c.74-10467A>G (n.74-10467A>G)
c.74-11359A>G (n.74-11359A>G)
dbSNP
10g.43100741C>ACA2721859478RETc.337+19C>A (n.337+19C>A)
c.239+19C>A
c.74-10466C>A (n.74-10466C>A)
c.74-11358C>A (n.74-11358C>A)
dbSNP
10g.43100741C>TCA2697558301RETc.337+19C>T (n.337+19C>T)
c.239+19C>T
c.74-10466C>T (n.74-10466C>T)
c.74-11358C>T (n.74-11358C>T)
ClinVar dbSNP
10g.43100741_43100742insCCCCCCCCCCCGGCCCCCCCCCCCA2787756026RETc.337+19_337+20insCCCCCCCCCCCGGCCCCCCCCCC (n.337+19_337+20insCCCCCCCCCCCGGCCCCCCCCCC)
c.239+19_239+20insCCCCCCCCCCCGGCCCCCCCCCC
c.74-10466_74-10465insCCCCCCCCCCCGGCCCCCCCCCC (n.74-10466_74-10465insCCCCCCCCCCCGGCCCCCCCCCC)
c.74-11358_74-11357insCCCCCCCCCCCGGCCCCCCCCCC (n.74-11358_74-11357insCCCCCCCCCCCGGCCCCCCCCCC)
10g.43100741dupCA2608894382RETc.337+19dup (n.337+19dup)
c.239+19dup
c.74-10466dup (n.74-10466dup)
c.74-11358dup (n.74-11358dup)
gnomAD v4
10g.43100746_43100761delCA2787756025RETc.337+24_337+39del (n.337+24_337+39del)
c.239+24_239+39del
c.74-10461_74-10446del (n.74-10461_74-10446del)
c.74-11353_74-11338del (n.74-11353_74-11338del)
10g.43100742A=CA1905836887RETc.337+20A= (n.337+20A=)
c.239+20A=
c.74-10465A= (n.74-10465A=)
c.74-11357A= (n.74-11357A=)
10g.43100742A>CCA927692864RETc.337+20A>C (n.337+20A>C)
c.239+20A>C
c.74-10465A>C (n.74-10465A>C)
c.74-11357A>C (n.74-11357A>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100742A>GCA1905836888RETc.337+20A>G (n.337+20A>G)
c.239+20A>G
c.74-10465A>G (n.74-10465A>G)
c.74-11357A>G (n.74-11357A>G)
dbSNP
10g.43100742dupCA927692861RETc.337+20dup (n.337+20dup)
c.239+20dup
c.74-10465dup (n.74-10465dup)
c.74-11357dup (n.74-11357dup)
gnomAD v3 gnomAD v4
10g.43100742_43100743insGCA2787756039RETc.337+20_337+21insG (n.337+20_337+21insG)
c.239+20_239+21insG
c.74-10465_74-10464insG (n.74-10465_74-10464insG)
c.74-11357_74-11356insG (n.74-11357_74-11356insG)
10g.43100742_43100743insACCA2608894413RETc.337+20_337+21insAC (n.337+20_337+21insAC)
c.239+20_239+21insAC
c.74-10465_74-10464insAC (n.74-10465_74-10464insAC)
c.74-11357_74-11356insAC (n.74-11357_74-11356insAC)
gnomAD v4
10g.43100743C>ACA2608894399RETc.337+21C>A (n.337+21C>A)
c.239+21C>A
c.74-10464C>A (n.74-10464C>A)
c.74-11356C>A (n.74-11356C>A)
dbSNP gnomAD v4
10g.43100743C=CA1905836889RETc.337+21C= (n.337+21C=)
c.239+21C=
c.74-10464C= (n.74-10464C=)
c.74-11356C= (n.74-11356C=)
10g.43100743C>GCA2608894400RETc.337+21C>G (n.337+21C>G)
c.239+21C>G
c.74-10464C>G (n.74-10464C>G)
c.74-11356C>G (n.74-11356C>G)
dbSNP gnomAD v4
10g.43100743C>TCA1905836890RETc.337+21C>T (n.337+21C>T)
c.239+21C>T
c.74-10464C>T (n.74-10464C>T)
c.74-11356C>T (n.74-11356C>T)
dbSNP
10g.43100745_43100746insCCCCCCTGCCCCCA2608894389RETc.337+23_337+24insCCCCCCTGCCCC (n.337+23_337+24insCCCCCCTGCCCC)
c.239+23_239+24insCCCCCCTGCCCC
c.74-10462_74-10461insCCCCCCTGCCCC (n.74-10462_74-10461insCCCCCCTGCCCC)
c.74-11354_74-11353insCCCCCCTGCCCC (n.74-11354_74-11353insCCCCCCTGCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCA2608894408RETc.337+23_337+24insCCCCCCCGGCCCC (n.337+23_337+24insCCCCCCCGGCCCC)
c.239+23_239+24insCCCCCCCGGCCCC
c.74-10462_74-10461insCCCCCCCGGCCCC (n.74-10462_74-10461insCCCCCCCGGCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCC (n.74-11354_74-11353insCCCCCCCGGCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCA2608894392RETc.337+23_337+24insCCCCCCTGCCCCC (n.337+23_337+24insCCCCCCTGCCCCC)
c.239+23_239+24insCCCCCCTGCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCA2608894416RETc.337+23_337+24insCCCCCCCGGCCCCC (n.337+23_337+24insCCCCCCCGGCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCA2608894409RETc.337+23_337+24insCCCCCCCGGCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCTGCCCCCCCA2608894401RETc.337+23_337+24insCCCCCCCTGCCCCCC (n.337+23_337+24insCCCCCCCTGCCCCCC)
c.239+23_239+24insCCCCCCCTGCCCCCC
c.74-10462_74-10461insCCCCCCCTGCCCCCC (n.74-10462_74-10461insCCCCCCCTGCCCCCC)
c.74-11354_74-11353insCCCCCCCTGCCCCCC (n.74-11354_74-11353insCCCCCCCTGCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCA2608894388RETc.337+23_337+24insCCCCCCTGCCCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGGCCCCCCCA2608894394RETc.337+23_337+24insCCCCCCTGGCCCCCC (n.337+23_337+24insCCCCCCTGGCCCCCC)
c.239+23_239+24insCCCCCCTGGCCCCCC
c.74-10462_74-10461insCCCCCCTGGCCCCCC (n.74-10462_74-10461insCCCCCCTGGCCCCCC)
c.74-11354_74-11353insCCCCCCTGGCCCCCC (n.74-11354_74-11353insCCCCCCTGGCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGCCCCCCCCCA2608894405RETc.337+23_337+24insCCCCCCCGCCCCCCCC (n.337+23_337+24insCCCCCCCGCCCCCCCC)
c.239+23_239+24insCCCCCCCGCCCCCCCC
c.74-10462_74-10461insCCCCCCCGCCCCCCCC (n.74-10462_74-10461insCCCCCCCGCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGCCCCCCCC (n.74-11354_74-11353insCCCCCCCGCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCA2608894410RETc.337+23_337+24insCCCCCCCGGCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCA2524394327RETc.337+23_337+24insCCCCCCTGCCCCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCC)
10g.43100745_43100746insCCCCCCCGCCCCCCCCCCA2608894406RETc.337+23_337+24insCCCCCCCGCCCCCCCCC (n.337+23_337+24insCCCCCCCGCCCCCCCCC)
c.239+23_239+24insCCCCCCCGCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCA2608894411RETc.337+23_337+24insCCCCCCCGGCCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCTGCCCCCCCCCA2608894402RETc.337+23_337+24insCCCCCCCTGCCCCCCCC (n.337+23_337+24insCCCCCCCTGCCCCCCCC)
c.239+23_239+24insCCCCCCCTGCCCCCCCC
c.74-10462_74-10461insCCCCCCCTGCCCCCCCC (n.74-10462_74-10461insCCCCCCCTGCCCCCCCC)
c.74-11354_74-11353insCCCCCCCTGCCCCCCCC (n.74-11354_74-11353insCCCCCCCTGCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCGGCCCCCCCCCCA2787756053RETc.337+23_337+24insCCCCCCGGCCCCCCCCC (n.337+23_337+24insCCCCCCGGCCCCCCCCC)
c.239+23_239+24insCCCCCCGGCCCCCCCCC
c.74-10462_74-10461insCCCCCCGGCCCCCCCCC (n.74-10462_74-10461insCCCCCCGGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCGGCCCCCCCCC (n.74-11354_74-11353insCCCCCCGGCCCCCCCCC)
10g.43100745_43100746insCCCCCCGGGCCCCCCCCCA2608894391RETc.337+23_337+24insCCCCCCGGGCCCCCCCC (n.337+23_337+24insCCCCCCGGGCCCCCCCC)
c.239+23_239+24insCCCCCCGGGCCCCCCCC
c.74-10462_74-10461insCCCCCCGGGCCCCCCCC (n.74-10462_74-10461insCCCCCCGGGCCCCCCCC)
c.74-11354_74-11353insCCCCCCGGGCCCCCCCC (n.74-11354_74-11353insCCCCCCGGGCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCCA927692877RETc.337+23_337+24insCCCCCCTGCCCCCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCCC)
gnomAD v3 gnomAD v4
10g.43100745_43100746insCCCCCCTGGCCCCCCCCCA2608894395RETc.337+23_337+24insCCCCCCTGGCCCCCCCC (n.337+23_337+24insCCCCCCTGGCCCCCCCC)
c.239+23_239+24insCCCCCCTGGCCCCCCCC
c.74-10462_74-10461insCCCCCCTGGCCCCCCCC (n.74-10462_74-10461insCCCCCCTGGCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGGCCCCCCCC (n.74-11354_74-11353insCCCCCCTGGCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTTCCCCCCCCCCA2787756042RETc.337+23_337+24insCCCCCCTTCCCCCCCCC (n.337+23_337+24insCCCCCCTTCCCCCCCCC)
c.239+23_239+24insCCCCCCTTCCCCCCCCC
c.74-10462_74-10461insCCCCCCTTCCCCCCCCC (n.74-10462_74-10461insCCCCCCTTCCCCCCCCC)
c.74-11354_74-11353insCCCCCCTTCCCCCCCCC (n.74-11354_74-11353insCCCCCCTTCCCCCCCCC)
10g.43100745_43100746insCCCCCCCCCCCCCCCCCCCA2608894404RETc.337+23_337+24insCCCCCCCCCCCCCCCCCC (n.337+23_337+24insCCCCCCCCCCCCCCCCCC)
c.239+23_239+24insCCCCCCCCCCCCCCCCCC
c.74-10462_74-10461insCCCCCCCCCCCCCCCCCC (n.74-10462_74-10461insCCCCCCCCCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCCCCCCCCCCCC (n.74-11354_74-11353insCCCCCCCCCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGCCCCCCCCCCCA593292830RETc.337+23_337+24insCCCCCCCGCCCCCCCCCC (n.337+23_337+24insCCCCCCCGCCCCCCCCCC)
c.239+23_239+24insCCCCCCCGCCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGCCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGCCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGCCCCCCCCCC)
gnomAD v2 gnomAD v3 gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCCA927692878RETc.337+23_337+24insCCCCCCCGGCCCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCCC)
dbSNP gnomAD v3 gnomAD v4
10g.43100745_43100746insCCCCCCCTGCCCCCCCCCCA2608894385RETc.337+23_337+24insCCCCCCCTGCCCCCCCCC (n.337+23_337+24insCCCCCCCTGCCCCCCCCC)
c.239+23_239+24insCCCCCCCTGCCCCCCCCC
c.74-10462_74-10461insCCCCCCCTGCCCCCCCCC (n.74-10462_74-10461insCCCCCCCTGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCTGCCCCCCCCC (n.74-11354_74-11353insCCCCCCCTGCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCGGCCCCCCCCCCCA2787756044RETc.337+23_337+24insCCCCCCGGCCCCCCCCCC (n.337+23_337+24insCCCCCCGGCCCCCCCCCC)
c.239+23_239+24insCCCCCCGGCCCCCCCCCC
c.74-10462_74-10461insCCCCCCGGCCCCCCCCCC (n.74-10462_74-10461insCCCCCCGGCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCGGCCCCCCCCCC (n.74-11354_74-11353insCCCCCCGGCCCCCCCCCC)
10g.43100745_43100746insCCCCCCGGGCCCCCCCCCCA2608894390RETc.337+23_337+24insCCCCCCGGGCCCCCCCCC (n.337+23_337+24insCCCCCCGGGCCCCCCCCC)
c.239+23_239+24insCCCCCCGGGCCCCCCCCC
c.74-10462_74-10461insCCCCCCGGGCCCCCCCCC (n.74-10462_74-10461insCCCCCCGGGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCGGGCCCCCCCCC (n.74-11354_74-11353insCCCCCCGGGCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCCCA2608894387RETc.337+23_337+24insCCCCCCTGCCCCCCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGGCCCCCCCCCCA2608894396RETc.337+23_337+24insCCCCCCTGGCCCCCCCCC (n.337+23_337+24insCCCCCCTGGCCCCCCCCC)
c.239+23_239+24insCCCCCCTGGCCCCCCCCC
c.74-10462_74-10461insCCCCCCTGGCCCCCCCCC (n.74-10462_74-10461insCCCCCCTGGCCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGGCCCCCCCCC (n.74-11354_74-11353insCCCCCCTGGCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCCCA2608894412RETc.337+23_337+24insCCCCCCCGGCCCCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCCCCCCCCA2608894386RETc.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCCCCCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCCCCCCCA2608894414RETc.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCCCCCCCCA2608894415RETc.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCCCCCCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCCA927692879RETc.337+23_337+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC (n.337+23_337+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC)
c.239+23_239+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC
c.74-10462_74-10461insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC (n.74-10462_74-10461insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC)
c.74-11354_74-11353insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC (n.74-11354_74-11353insCCCCCCTGGCCCCCCCCCCCCCCTCCCCC)
dbSNP gnomAD v3 gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCCCCCCCTCCCCCCA2608894384RETc.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCCTCCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCCCCCCCCCCCCACCCCCCA2608894417RETc.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCCACCCCC (n.337+23_337+24insCCCCCCCGGCCCCCCCCCCCCCCACCCCC)
c.239+23_239+24insCCCCCCCGGCCCCCCCCCCCCCCACCCCC
c.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCCACCCCC (n.74-10462_74-10461insCCCCCCCGGCCCCCCCCCCCCCCACCCCC)
c.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCCACCCCC (n.74-11354_74-11353insCCCCCCCGGCCCCCCCCCCCCCCACCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCCCA2608894407RETc.337+23_337+24insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.337+23_337+24insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
c.239+23_239+24insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC
c.74-10462_74-10461insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.74-10462_74-10461insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
c.74-11354_74-11353insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.74-11354_74-11353insCCCCCCCGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCCCA2608894398RETc.337+23_337+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC (n.337+23_337+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC)
c.239+23_239+24insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC
c.74-10462_74-10461insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC (n.74-10462_74-10461insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC)
c.74-11354_74-11353insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC (n.74-11354_74-11353insCCCCCCTGGCCCCCCCCCCCCCCTCCCCCAACCCCC)
gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCCCA2608894393RETc.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.337+23_337+24insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
c.239+23_239+24insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC
c.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.74-10462_74-10461insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
c.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC (n.74-11354_74-11353insCCCCCCTGCCCCCCCCCCCCCCCTTCCCCAACCCCC)
gnomAD v4
10g.43100745dupCA593292831RETc.337+23dup (n.337+23dup)
c.239+23dup
c.74-10462dup (n.74-10462dup)
c.74-11354dup (n.74-11354dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100744_43100745dupCA927692874RETc.337+22_337+23dup (n.337+22_337+23dup)
c.239+22_239+23dup
c.74-10463_74-10462dup (n.74-10463_74-10462dup)
c.74-11355_74-11354dup (n.74-11355_74-11354dup)
dbSNP gnomAD v3 gnomAD v4
10g.43100743_43100745dupCA2787756047RETc.337+21_337+23dup (n.337+21_337+23dup)
c.239+21_239+23dup
c.74-10464_74-10462dup (n.74-10464_74-10462dup)
c.74-11356_74-11354dup (n.74-11356_74-11354dup)
10g.43100750_43100751insCGGCCCCCCCCCCCCCCACCCCCA2608894403RETc.337+28_337+29insCGGCCCCCCCCCCCCCCACCCC (n.337+28_337+29insCGGCCCCCCCCCCCCCCACCCC)
c.239+28_239+29insCGGCCCCCCCCCCCCCCACCCC
c.74-10457_74-10456insCGGCCCCCCCCCCCCCCACCCC (n.74-10457_74-10456insCGGCCCCCCCCCCCCCCACCCC)
c.74-11349_74-11348insCGGCCCCCCCCCCCCCCACCCC (n.74-11349_74-11348insCGGCCCCCCCCCCCCCCACCCC)
gnomAD v4
10g.43100751_43100762delCA2574531825RETc.337+29_337+40del (n.337+29_337+40del)
c.239+29_239+40del
c.74-10456_74-10445del (n.74-10456_74-10445del)
c.74-11348_74-11337del (n.74-11348_74-11337del)
gnomAD v4
10g.43100751_43100767dupCA2588645630RETc.337+29_337+45dup (n.337+29_337+45dup)
c.239+29_239+45dup
c.74-10456_74-10440dup (n.74-10456_74-10440dup)
c.74-11348_74-11332dup (n.74-11348_74-11332dup)
gnomAD v3 gnomAD v4
10g.43100751_43100767delCA927692876RETc.337+29_337+45del (n.337+29_337+45del)
c.239+29_239+45del
c.74-10456_74-10440del (n.74-10456_74-10440del)
c.74-11348_74-11332del (n.74-11348_74-11332del)
gnomAD v3 gnomAD v4
10g.43100744C>ACA2608894419RETc.337+22C>A (n.337+22C>A)
c.239+22C>A
c.74-10463C>A (n.74-10463C>A)
c.74-11355C>A (n.74-11355C>A)
dbSNP gnomAD v4
10g.43100744C>GCA2721859523RETc.337+22C>G (n.337+22C>G)
c.239+22C>G
c.74-10463C>G (n.74-10463C>G)
c.74-11355C>G (n.74-11355C>G)
dbSNP
10g.43100744C>TCA2608894418RETc.337+22C>T (n.337+22C>T)
c.239+22C>T
c.74-10463C>T (n.74-10463C>T)
c.74-11355C>T (n.74-11355C>T)
dbSNP gnomAD v4
10g.43100745_43100746insCCCCCCTGCCCA2608894420RETc.337+23_337+24insCCCCCCTGCC (n.337+23_337+24insCCCCCCTGCC)
c.239+23_239+24insCCCCCCTGCC
c.74-10462_74-10461insCCCCCCTGCC (n.74-10462_74-10461insCCCCCCTGCC)
c.74-11354_74-11353insCCCCCCTGCC (n.74-11354_74-11353insCCCCCCTGCC)
gnomAD v4
10g.43100745_43100746insCCCCCCCGGCCCA2787756060RETc.337+23_337+24insCCCCCCCGGCC (n.337+23_337+24insCCCCCCCGGCC)
c.239+23_239+24insCCCCCCCGGCC
c.74-10462_74-10461insCCCCCCCGGCC (n.74-10462_74-10461insCCCCCCCGGCC)
c.74-11354_74-11353insCCCCCCCGGCC (n.74-11354_74-11353insCCCCCCCGGCC)
10g.43100744_43100745insAACCAAACACACCCAACACA2787756063RETc.337+22_337+23insAACCAAACACACCCAACA (n.337+22_337+23insAACCAAACACACCCAACA)
c.239+22_239+23insAACCAAACACACCCAACA
c.74-10463_74-10462insAACCAAACACACCCAACA (n.74-10463_74-10462insAACCAAACACACCCAACA)
c.74-11355_74-11354insAACCAAACACACCCAACA (n.74-11355_74-11354insAACCAAACACACCCAACA)
10g.43100745C>ACA2608894422RETc.337+23C>A (n.337+23C>A)
c.239+23C>A
c.74-10462C>A (n.74-10462C>A)
c.74-11354C>A (n.74-11354C>A)
dbSNP gnomAD v4
10g.43100745C=CA1905836891RETc.337+23C= (n.337+23C=)
c.239+23C=
c.74-10462C= (n.74-10462C=)
c.74-11354C= (n.74-11354C=)
10g.43100745C>GCA2721616760RETc.337+23C>G (n.337+23C>G)
c.239+23C>G
c.74-10462C>G (n.74-10462C>G)
c.74-11354C>G (n.74-11354C>G)
dbSNP
10g.43100745C>TCA1905836892RETc.337+23C>T (n.337+23C>T)
c.239+23C>T
c.74-10462C>T (n.74-10462C>T)
c.74-11354C>T (n.74-11354C>T)
dbSNP gnomAD v4
10g.43100745_43100746insCCCCCCGGCCA2787756064RETc.337+23_337+24insCCCCCCGGC (n.337+23_337+24insCCCCCCGGC)
c.239+23_239+24insCCCCCCGGC
c.74-10462_74-10461insCCCCCCGGC (n.74-10462_74-10461insCCCCCCGGC)
c.74-11354_74-11353insCCCCCCGGC (n.74-11354_74-11353insCCCCCCGGC)
10g.43100745_43100746insCCCCCCCGGCCA2608894421RETc.337+23_337+24insCCCCCCCGGC (n.337+23_337+24insCCCCCCCGGC)
c.239+23_239+24insCCCCCCCGGC
c.74-10462_74-10461insCCCCCCCGGC (n.74-10462_74-10461insCCCCCCCGGC)
c.74-11354_74-11353insCCCCCCCGGC (n.74-11354_74-11353insCCCCCCCGGC)
gnomAD v4
10g.43100745_43100746delinsCACA1905836893RETc.337+23_337+24delinsCA (n.337+23_337+24delinsCA)
c.239+23_239+24delinsCA
c.74-10462_74-10461delinsCA (n.74-10462_74-10461delinsCA)
c.74-11354_74-11353delinsCA (n.74-11354_74-11353delinsCA)

Number of alleles fetched