Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.43100475C>ACA376770065RETc.90C>A (p.Tyr30Ter)
c.74-10732C>A (n.74-10732C>A)
c.74-11624C>A (n.74-11624C>A)
dbSNP
10g.43100475C=CA1905836754RETc.90C= (p.Tyr30=)
c.74-10732C= (n.74-10732C=)
c.74-11624C= (n.74-11624C=)
10g.43100475C>GCA376770066RETc.90C>G (p.Tyr30Ter)
c.74-10732C>G (n.74-10732C>G)
c.74-11624C>G (n.74-11624C>G)
dbSNP
10g.43100475C>TCA469490319RETc.90C>T (p.Tyr30=)
c.74-10732C>T (n.74-10732C>T)
c.74-11624C>T (n.74-11624C>T)
ClinVar dbSNP gnomAD v4
10g.43100476T>ACA376770069RETc.91T>A (p.Phe31Ile)
c.74-10731T>A (n.74-10731T>A)
c.74-11623T>A (n.74-11623T>A)
dbSNP
10g.43100476T>CCA376770067RETc.91T>C (p.Phe31Leu)
c.74-10731T>C (n.74-10731T>C)
c.74-11623T>C (n.74-11623T>C)
dbSNP
10g.43100476T>GCA376770068RETc.91T>G (p.Phe31Val)
c.74-10731T>G (n.74-10731T>G)
c.74-11623T>G (n.74-11623T>G)
10g.43100477T>ACA376770070RETc.92T>A (p.Phe31Tyr)
c.74-10730T>A (n.74-10730T>A)
c.74-11622T>A (n.74-11622T>A)
10g.43100477T>CCA376770071RETc.92T>C (p.Phe31Ser)
c.74-10730T>C (n.74-10730T>C)
c.74-11622T>C (n.74-11622T>C)
dbSNP
10g.43100477T>GCA376770072RETc.92T>G (p.Phe31Cys)
c.74-10730T>G (n.74-10730T>G)
c.74-11622T>G (n.74-11622T>G)
10g.43100478C>ACA376770073RETc.93C>A (p.Phe31Leu)
c.74-10729C>A (n.74-10729C>A)
c.74-11621C>A (n.74-11621C>A)
dbSNP
10g.43100478C>GCA376770074RETc.93C>G (p.Phe31Leu)
c.74-10729C>G (n.74-10729C>G)
c.74-11621C>G (n.74-11621C>G)
dbSNP
10g.43100478C>TCA469490324RETc.93C>T (p.Phe31=)
c.74-10729C>T (n.74-10729C>T)
c.74-11621C>T (n.74-11621C>T)
dbSNP
10g.43100479T>ACA376770077RETc.94T>A (p.Ser32Thr)
c.74-10728T>A (n.74-10728T>A)
c.74-11620T>A (n.74-11620T>A)
dbSNP
10g.43100479T>CCA376770076RETc.94T>C (p.Ser32Pro)
c.74-10728T>C (n.74-10728T>C)
c.74-11620T>C (n.74-11620T>C)
dbSNP
10g.43100479T>GCA376770075RETc.94T>G (p.Ser32Ala)
c.74-10728T>G (n.74-10728T>G)
c.74-11620T>G (n.74-11620T>G)
10g.43100480C>ACA376770078RETc.95C>A (p.Ser32Ter)
c.74-10727C>A (n.74-10727C>A)
c.74-11619C>A (n.74-11619C>A)
dbSNP
10g.43100480C=CA1905836755RETc.95C= (p.Ser32=)
c.74-10727C= (n.74-10727C=)
c.74-11619C= (n.74-11619C=)
10g.43100480C>GCA376770079RETc.95C>G (p.Ser32Trp)
c.74-10727C>G (n.74-10727C>G)
c.74-11619C>G (n.74-11619C>G)
dbSNP
10g.43100480C>TCA009398RETc.95C>T (p.Ser32Leu)
c.74-10727C>T (n.74-10727C>T)
c.74-11619C>T (n.74-11619C>T)
ClinVar dbSNP gnomAD v4
10g.43100481G>ACA045653RETc.96G>A (p.Ser32=)
c.74-10726G>A (n.74-10726G>A)
c.74-11618G>A (n.74-11618G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100481G>CCA469490327RETc.96G>C (p.Ser32=)
c.74-10726G>C (n.74-10726G>C)
c.74-11618G>C (n.74-11618G>C)
dbSNP
10g.43100481G=CA1905836756RETc.96G= (p.Ser32=)
c.74-10726G= (n.74-10726G=)
c.74-11618G= (n.74-11618G=)
10g.43100481G>TCA469490328RETc.96G>T (p.Ser32=)
c.74-10726G>T (n.74-10726G>T)
c.74-11618G>T (n.74-11618G>T)
ClinVar dbSNP
10g.43100482A>CCA469490330RETc.97A>C (p.Arg33=)
c.74-10725A>C (n.74-10725A>C)
c.74-11617A>C (n.74-11617A>C)
10g.43100482A>GCA376770080RETc.97A>G (p.Arg33Gly)
c.74-10725A>G (n.74-10725A>G)
c.74-11617A>G (n.74-11617A>G)
dbSNP
10g.43100482A>TCA376770081RETc.97A>T (p.Arg33Trp)
c.74-10725A>T (n.74-10725A>T)
c.74-11617A>T (n.74-11617A>T)
dbSNP
10g.43100482_43100484delinsAGGCA1905836757RETc.97_99delinsAGG (p.Arg33=)
c.74-10725_74-10723delinsAGG (n.74-10725_74-10723delinsAGG)
c.74-11617_74-11615delinsAGG (n.74-11617_74-11615delinsAGG)
10g.43100483G>ACA376770082RETc.98G>A (p.Arg33Lys)
c.74-10724G>A (n.74-10724G>A)
c.74-11616G>A (n.74-11616G>A)
dbSNP
10g.43100483G>CCA376770083RETc.98G>C (p.Arg33Thr)
c.74-10724G>C (n.74-10724G>C)
c.74-11616G>C (n.74-11616G>C)
dbSNP
10g.43100483G>TCA376770084RETc.98G>T (p.Arg33Met)
c.74-10724G>T (n.74-10724G>T)
c.74-11616G>T (n.74-11616G>T)
dbSNP
10g.43100484_43100485delCA1905836758RETc.99_100del (p.Asp34CysfsTer27)
c.74-10723_74-10722del (n.74-10723_74-10722del)
c.74-11615_74-11614del (n.74-11615_74-11614del)
ClinVar dbSNP
10g.43100484G>ACA045766RETc.99G>A (p.Arg33=)
c.1G>A
c.74-10723G>A (n.74-10723G>A)
c.74-11615G>A (n.74-11615G>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100484G>CCA376770085RETc.99G>C (p.Arg33Ser)
c.1G>C
c.74-10723G>C (n.74-10723G>C)
c.74-11615G>C (n.74-11615G>C)
dbSNP
10g.43100484G=CA1905836759RETc.99G= (p.Arg33=)
c.1G=
c.74-10723G= (n.74-10723G=)
c.74-11615G= (n.74-11615G=)
10g.43100484G>TCA376770086RETc.99G>T (p.Arg33Ser)
c.1G>T
c.74-10723G>T (n.74-10723G>T)
c.74-11615G>T (n.74-11615G>T)
dbSNP
10g.43100485G>ACA376770087RETc.100G>A (p.Asp34Asn)
c.2G>A
c.74-10722G>A (n.74-10722G>A)
c.74-11614G>A (n.74-11614G>A)
ClinVar dbSNP
10g.43100485G>CCA376770088RETc.100G>C (p.Asp34His)
c.2G>C
c.74-10722G>C (n.74-10722G>C)
c.74-11614G>C (n.74-11614G>C)
dbSNP
10g.43100485G=CA1905836760RETc.100G= (p.Asp34=)
c.2G=
c.74-10722G= (n.74-10722G=)
c.74-11614G= (n.74-11614G=)
10g.43100485G>TCA376770089RETc.100G>T (p.Asp34Tyr)
c.2G>T
c.74-10722G>T (n.74-10722G>T)
c.74-11614G>T (n.74-11614G>T)
ClinVar dbSNP gnomAD v4
10g.43100486A>CCA376770092RETc.101A>C (p.Asp34Ala)
c.3A>C
c.74-10721A>C (n.74-10721A>C)
c.74-11613A>C (n.74-11613A>C)
10g.43100486A>GCA376770090RETc.101A>G (p.Asp34Gly)
c.3A>G
c.74-10721A>G (n.74-10721A>G)
c.74-11613A>G (n.74-11613A>G)
ClinVar dbSNP
10g.43100486A>TCA376770091RETc.101A>T (p.Asp34Val)
c.3A>T
c.74-10721A>T (n.74-10721A>T)
c.74-11613A>T (n.74-11613A>T)
dbSNP
10g.43100487T>ACA376770093RETc.102T>A (p.Asp34Glu)
c.4T>A
c.74-10720T>A (n.74-10720T>A)
c.74-11612T>A (n.74-11612T>A)
dbSNP
10g.43100487T>CCA469490341RETc.102T>C (p.Asp34=)
c.4T>C
c.74-10720T>C (n.74-10720T>C)
c.74-11612T>C (n.74-11612T>C)
ClinVar dbSNP
10g.43100487T>GCA376770094RETc.102T>G (p.Asp34Glu)
c.4T>G
c.74-10720T>G (n.74-10720T>G)
c.74-11612T>G (n.74-11612T>G)
dbSNP
10g.43100487T=CA1905836761RETc.102T= (p.Asp34=)
c.4T=
c.74-10720T= (n.74-10720T=)
c.74-11612T= (n.74-11612T=)
10g.43100488G>ACA206713118RETc.103G>A (p.Ala35Thr)
c.5G>A
c.74-10719G>A (n.74-10719G>A)
c.74-11611G>A (n.74-11611G>A)
ClinVar dbSNP
10g.43100488G>CCA376770095RETc.103G>C (p.Ala35Pro)
c.5G>C
c.74-10719G>C (n.74-10719G>C)
c.74-11611G>C (n.74-11611G>C)
dbSNP
10g.43100488G=CA1905836762RETc.103G= (p.Ala35=)
c.5G=
c.74-10719G= (n.74-10719G=)
c.74-11611G= (n.74-11611G=)
10g.43100488G>TCA376770096RETc.103G>T (p.Ala35Ser)
c.5G>T
c.74-10719G>T (n.74-10719G>T)
c.74-11611G>T (n.74-11611G>T)
dbSNP
10g.43100489C>ACA376770097RETc.104C>A (p.Ala35Asp)
c.6C>A
c.74-10718C>A (n.74-10718C>A)
c.74-11610C>A (n.74-11610C>A)
10g.43100489C=CA1905836763RETc.104C= (p.Ala35=)
c.6C=
c.74-10718C= (n.74-10718C=)
c.74-11610C= (n.74-11610C=)
10g.43100489C>GCA376770098RETc.104C>G (p.Ala35Gly)
c.6C>G
c.74-10718C>G (n.74-10718C>G)
c.74-11610C>G (n.74-11610C>G)
ClinVar
10g.43100489C>TCA376770099RETc.104C>T (p.Ala35Val)
c.6C>T
c.74-10718C>T (n.74-10718C>T)
c.74-11610C>T (n.74-11610C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100490T>ACA469490350RETc.105T>A (p.Ala35=)
c.7T>A
c.74-10717T>A (n.74-10717T>A)
c.74-11609T>A (n.74-11609T>A)
dbSNP
10g.43100490T>CCA469490352RETc.105T>C (p.Ala35=)
c.7T>C
c.74-10717T>C (n.74-10717T>C)
c.74-11609T>C (n.74-11609T>C)
dbSNP
10g.43100490T>GCA469490355RETc.105T>G (p.Ala35=)
c.7T>G
c.74-10717T>G (n.74-10717T>G)
c.74-11609T>G (n.74-11609T>G)
10g.43100491T>ACA376770100RETc.106T>A (p.Tyr36Asn)
c.8T>A
c.74-10716T>A (n.74-10716T>A)
c.74-11608T>A (n.74-11608T>A)
dbSNP
10g.43100491T>CCA376770101RETc.106T>C (p.Tyr36His)
c.8T>C
c.74-10716T>C (n.74-10716T>C)
c.74-11608T>C (n.74-11608T>C)
dbSNP
10g.43100491T>GCA376770102RETc.106T>G (p.Tyr36Asp)
c.8T>G
c.74-10716T>G (n.74-10716T>G)
c.74-11608T>G (n.74-11608T>G)
10g.43100492A>CCA376770105RETc.107A>C (p.Tyr36Ser)
c.9A>C
c.74-10715A>C (n.74-10715A>C)
c.74-11607A>C (n.74-11607A>C)
dbSNP
10g.43100492A>GCA376770104RETc.107A>G (p.Tyr36Cys)
c.9A>G
c.74-10715A>G (n.74-10715A>G)
c.74-11607A>G (n.74-11607A>G)
dbSNP
10g.43100492A>TCA376770103RETc.107A>T (p.Tyr36Phe)
c.9A>T
c.74-10715A>T (n.74-10715A>T)
c.74-11607A>T (n.74-11607A>T)
dbSNP
10g.43100493C>ACA376770106RETc.108C>A (p.Tyr36Ter)
c.10C>A
c.74-10714C>A (n.74-10714C>A)
c.74-11606C>A (n.74-11606C>A)
dbSNP
10g.43100493C=CA1905836764RETc.108C= (p.Tyr36=)
c.10C=
c.74-10714C= (n.74-10714C=)
c.74-11606C= (n.74-11606C=)
10g.43100493C>GCA376770107RETc.108C>G (p.Tyr36Ter)
c.10C>G
c.74-10714C>G (n.74-10714C>G)
c.74-11606C>G (n.74-11606C>G)
dbSNP
10g.43100493C>TCA206713119RETc.108C>T (p.Tyr36=)
c.10C>T
c.74-10714C>T (n.74-10714C>T)
c.74-11606C>T (n.74-11606C>T)
ClinVar dbSNP COSMIC COSMIC
10g.43100494T>ACA376770108RETc.109T>A (p.Trp37Arg)
c.11T>A
c.74-10713T>A (n.74-10713T>A)
c.74-11605T>A (n.74-11605T>A)
10g.43100494T>CCA031539RETc.109T>C (p.Trp37Arg)
c.11T>C
c.74-10713T>C (n.74-10713T>C)
c.74-11605T>C (n.74-11605T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100494T>GCA376770109RETc.109T>G (p.Trp37Gly)
c.11T>G
c.74-10713T>G (n.74-10713T>G)
c.74-11605T>G (n.74-11605T>G)
10g.43100494T=CA1905836765RETc.109T= (p.Trp37=)
c.11T=
c.74-10713T= (n.74-10713T=)
c.74-11605T= (n.74-11605T=)
10g.43100495G>ACA376770112RETc.110G>A (p.Trp37Ter)
c.12G>A
c.74-10712G>A (n.74-10712G>A)
c.74-11604G>A (n.74-11604G>A)
dbSNP COSMIC COSMIC
10g.43100495G>CCA376770111RETc.110G>C (p.Trp37Ser)
c.12G>C
c.74-10712G>C (n.74-10712G>C)
c.74-11604G>C (n.74-11604G>C)
dbSNP
10g.43100495G>TCA376770110RETc.110G>T (p.Trp37Leu)
c.12G>T
c.74-10712G>T (n.74-10712G>T)
c.74-11604G>T (n.74-11604G>T)
dbSNP
10g.43100496G>ACA376770113RETc.111G>A (p.Trp37Ter)
c.13G>A
c.74-10711G>A (n.74-10711G>A)
c.74-11603G>A (n.74-11603G>A)
ClinVar dbSNP
10g.43100496G>CCA376770114RETc.111G>C (p.Trp37Cys)
c.13G>C
c.74-10711G>C (n.74-10711G>C)
c.74-11603G>C (n.74-11603G>C)
dbSNP
10g.43100496G=CA1905836766RETc.111G= (p.Trp37=)
c.13G=
c.74-10711G= (n.74-10711G=)
c.74-11603G= (n.74-11603G=)
10g.43100496G>TCA376770115RETc.111G>T (p.Trp37Cys)
c.13G>T
c.74-10711G>T (n.74-10711G>T)
c.74-11603G>T (n.74-11603G>T)
dbSNP
10g.43100497G>ACA376770116RETc.112G>A (p.Glu38Lys)
c.14G>A
c.74-10710G>A (n.74-10710G>A)
c.74-11602G>A (n.74-11602G>A)
dbSNP
10g.43100497G>CCA376770117RETc.112G>C (p.Glu38Gln)
c.14G>C
c.74-10710G>C (n.74-10710G>C)
c.74-11602G>C (n.74-11602G>C)
dbSNP
10g.43100497G>TCA376770118RETc.112G>T (p.Glu38Ter)
c.14G>T
c.74-10710G>T (n.74-10710G>T)
c.74-11602G>T (n.74-11602G>T)
dbSNP
10g.43100498A=CA1905836767RETc.113A= (p.Glu38=)
c.15A=
c.74-10709A= (n.74-10709A=)
c.74-11601A= (n.74-11601A=)
10g.43100498A>CCA376770119RETc.113A>C (p.Glu38Ala)
c.15A>C
c.74-10709A>C (n.74-10709A>C)
c.74-11601A>C (n.74-11601A>C)
10g.43100498A>GCA376770121RETc.113A>G (p.Glu38Gly)
c.15A>G
c.74-10709A>G (n.74-10709A>G)
c.74-11601A>G (n.74-11601A>G)
dbSNP
10g.43100498A>TCA376770120RETc.113A>T (p.Glu38Val)
c.15A>T
c.74-10709A>T (n.74-10709A>T)
c.74-11601A>T (n.74-11601A>T)
ClinVar dbSNP
10g.43100499G>ACA031854RETc.114G>A (p.Glu38=)
c.16G>A
c.74-10708G>A (n.74-10708G>A)
c.74-11600G>A (n.74-11600G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100499G>CCA376770122RETc.114G>C (p.Glu38Asp)
c.16G>C
c.74-10708G>C (n.74-10708G>C)
c.74-11600G>C (n.74-11600G>C)
dbSNP
10g.43100499G=CA1905836768RETc.114G= (p.Glu38=)
c.16G=
c.74-10708G= (n.74-10708G=)
c.74-11600G= (n.74-11600G=)
10g.43100499G>TCA376770123RETc.114G>T (p.Glu38Asp)
c.16G>T
c.74-10708G>T (n.74-10708G>T)
c.74-11600G>T (n.74-11600G>T)
10g.43100500A>CCA376770124RETc.115A>C (p.Lys39Gln)
c.17A>C
c.74-10707A>C (n.74-10707A>C)
c.74-11599A>C (n.74-11599A>C)
10g.43100500A>GCA376770125RETc.115A>G (p.Lys39Glu)
c.17A>G
c.74-10707A>G (n.74-10707A>G)
c.74-11599A>G (n.74-11599A>G)
dbSNP
10g.43100500A>TCA376770126RETc.115A>T (p.Lys39Ter)
c.17A>T
c.74-10707A>T (n.74-10707A>T)
c.74-11599A>T (n.74-11599A>T)
dbSNP
10g.43100501A>CCA376770127RETc.116A>C (p.Lys39Thr)
c.18A>C
c.74-10706A>C (n.74-10706A>C)
c.74-11598A>C (n.74-11598A>C)
10g.43100501A>GCA376770128RETc.116A>G (p.Lys39Arg)
c.18A>G
c.74-10706A>G (n.74-10706A>G)
c.74-11598A>G (n.74-11598A>G)
dbSNP
10g.43100501A>TCA376770129RETc.116A>T (p.Lys39Met)
c.18A>T
c.74-10706A>T (n.74-10706A>T)
c.74-11598A>T (n.74-11598A>T)
dbSNP
10g.43100502G>ACA469490376RETc.117G>A (p.Lys39=)
c.19G>A
c.74-10705G>A (n.74-10705G>A)
c.74-11597G>A (n.74-11597G>A)
ClinVar dbSNP
10g.43100502G>CCA376770130RETc.117G>C (p.Lys39Asn)
c.19G>C
c.74-10705G>C (n.74-10705G>C)
c.74-11597G>C (n.74-11597G>C)
dbSNP
10g.43100502G>TCA376770131RETc.117G>T (p.Lys39Asn)
c.19G>T
c.74-10705G>T (n.74-10705G>T)
c.74-11597G>T (n.74-11597G>T)
10g.43100503C>ACA376770132RETc.118C>A (p.Leu40Met)
c.20C>A
c.74-10704C>A (n.74-10704C>A)
c.74-11596C>A (n.74-11596C>A)
10g.43100503C=CA1905836769RETc.118C= (p.Leu40=)
c.20C=
c.74-10704C= (n.74-10704C=)
c.74-11596C= (n.74-11596C=)
10g.43100503C>GCA376770133RETc.118C>G (p.Leu40Val)
c.20C>G
c.74-10704C>G (n.74-10704C>G)
c.74-11596C>G (n.74-11596C>G)
10g.43100503C>TCA032094RETc.118C>T (p.Leu40=)
c.20C>T
c.74-10704C>T (n.74-10704C>T)
c.74-11596C>T (n.74-11596C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.43100504T>ACA376770135RETc.119T>A (p.Leu40Gln)
c.21T>A
c.74-10703T>A (n.74-10703T>A)
c.74-11595T>A (n.74-11595T>A)
dbSNP
10g.43100504T>CCA376770134RETc.119T>C (p.Leu40Pro)
c.21T>C
c.74-10703T>C (n.74-10703T>C)
c.74-11595T>C (n.74-11595T>C)
dbSNP
10g.43100504T>GCA376770136RETc.119T>G (p.Leu40Arg)
c.21T>G
c.74-10703T>G (n.74-10703T>G)
c.74-11595T>G (n.74-11595T>G)
dbSNP
10g.43100505G>ACA469490383RETc.120G>A (p.Leu40=)
c.22G>A
c.74-10702G>A (n.74-10702G>A)
c.74-11594G>A (n.74-11594G>A)
dbSNP
10g.43100505G>CCA469490386RETc.120G>C (p.Leu40=)
c.22G>C
c.74-10702G>C (n.74-10702G>C)
c.74-11594G>C (n.74-11594G>C)
dbSNP
10g.43100505G=CA1905836770RETc.120G= (p.Leu40=)
c.22G=
c.74-10702G= (n.74-10702G=)
c.74-11594G= (n.74-11594G=)
10g.43100505G>TCA469490384RETc.120G>T (p.Leu40=)
c.22G>T
c.74-10702G>T (n.74-10702G>T)
c.74-11594G>T (n.74-11594G>T)
dbSNP gnomAD v2
10g.43100506T>ACA376770137RETc.121T>A (p.Tyr41Asn)
c.23T>A
c.74-10701T>A (n.74-10701T>A)
c.74-11593T>A (n.74-11593T>A)
dbSNP
10g.43100506T>CCA376770139RETc.121T>C (p.Tyr41His)
c.23T>C
c.74-10701T>C (n.74-10701T>C)
c.74-11593T>C (n.74-11593T>C)
dbSNP
10g.43100506T>GCA376770138RETc.121T>G (p.Tyr41Asp)
c.23T>G
c.74-10701T>G (n.74-10701T>G)
c.74-11593T>G (n.74-11593T>G)
dbSNP
10g.43100507A>CCA376770140RETc.122A>C (p.Tyr41Ser)
c.24A>C
c.74-10700A>C (n.74-10700A>C)
c.74-11592A>C (n.74-11592A>C)
10g.43100507A>GCA376770142RETc.122A>G (p.Tyr41Cys)
c.24A>G
c.74-10700A>G (n.74-10700A>G)
c.74-11592A>G (n.74-11592A>G)
dbSNP
10g.43100507A>TCA376770141RETc.122A>T (p.Tyr41Phe)
c.24A>T
c.74-10700A>T (n.74-10700A>T)
c.74-11592A>T (n.74-11592A>T)
ClinVar dbSNP
10g.43100508T>ACA376770143RETc.123T>A (p.Tyr41Ter)
c.25T>A
c.74-10699T>A (n.74-10699T>A)
c.74-11591T>A (n.74-11591T>A)
dbSNP
10g.43100508T>CCA469490391RETc.123T>C (p.Tyr41=)
c.25T>C
c.74-10699T>C (n.74-10699T>C)
c.74-11591T>C (n.74-11591T>C)
ClinVar dbSNP gnomAD v4
10g.43100508T>GCA376770144RETc.123T>G (p.Tyr41Ter)
c.25T>G
c.74-10699T>G (n.74-10699T>G)
c.74-11591T>G (n.74-11591T>G)
10g.43100508T=CA1905836771RETc.123T= (p.Tyr41=)
c.25T=
c.74-10699T= (n.74-10699T=)
c.74-11591T= (n.74-11591T=)
10g.43100509G>ACA376770145RETc.124G>A (p.Val42Met)
c.26G>A
c.74-10698G>A (n.74-10698G>A)
c.74-11590G>A (n.74-11590G>A)
dbSNP
10g.43100509G>CCA376770146RETc.124G>C (p.Val42Leu)
c.26G>C
c.74-10698G>C (n.74-10698G>C)
c.74-11590G>C (n.74-11590G>C)
dbSNP
10g.43100509G>TCA376770147RETc.124G>T (p.Val42Leu)
c.26G>T
c.74-10698G>T (n.74-10698G>T)
c.74-11590G>T (n.74-11590G>T)
ClinVar dbSNP
10g.43100510T>ACA376770148RETc.125T>A (p.Val42Glu)
c.27T>A
c.74-10697T>A (n.74-10697T>A)
c.74-11589T>A (n.74-11589T>A)
10g.43100510T>CCA032341RETc.125T>C (p.Val42Ala)
c.27T>C
c.74-10697T>C (n.74-10697T>C)
c.74-11589T>C (n.74-11589T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100510T>GCA376770149RETc.125T>G (p.Val42Gly)
c.27T>G
c.74-10697T>G (n.74-10697T>G)
c.74-11589T>G (n.74-11589T>G)
10g.43100510T=CA1905836772RETc.125T= (p.Val42=)
c.27T=
c.74-10697T= (n.74-10697T=)
c.74-11589T= (n.74-11589T=)
10g.43100511G>ACA469490399RETc.126G>A (p.Val42=)
c.28G>A
c.74-10696G>A (n.74-10696G>A)
c.74-11588G>A (n.74-11588G>A)
dbSNP COSMIC COSMIC
10g.43100511G>CCA469490401RETc.126G>C (p.Val42=)
c.28G>C
c.74-10696G>C (n.74-10696G>C)
c.74-11588G>C (n.74-11588G>C)
dbSNP
10g.43100511G=CA1905836773RETc.126G= (p.Val42=)
c.28G=
c.74-10696G= (n.74-10696G=)
c.74-11588G= (n.74-11588G=)
10g.43100511G>TCA469490402RETc.126G>T (p.Val42=)
c.28G>T
c.74-10696G>T (n.74-10696G>T)
c.74-11588G>T (n.74-11588G>T)
dbSNP
10g.43100512G>ACA376770150RETc.127G>A (p.Asp43Asn)
c.29G>A
c.74-10695G>A (n.74-10695G>A)
c.74-11587G>A (n.74-11587G>A)
dbSNP
10g.43100512G>CCA376770151RETc.127G>C (p.Asp43His)
c.29G>C
c.74-10695G>C (n.74-10695G>C)
c.74-11587G>C (n.74-11587G>C)
dbSNP
10g.43100512G=CA1905836774RETc.127G= (p.Asp43=)
c.29G=
c.74-10695G= (n.74-10695G=)
c.74-11587G= (n.74-11587G=)
10g.43100512G>TCA376770152RETc.127G>T (p.Asp43Tyr)
c.29G>T
c.74-10695G>T (n.74-10695G>T)
c.74-11587G>T (n.74-11587G>T)
dbSNP
10g.43100513A>CCA376770155RETc.128A>C (p.Asp43Ala)
c.30A>C
c.74-10694A>C (n.74-10694A>C)
c.74-11586A>C (n.74-11586A>C)
dbSNP
10g.43100513A>GCA376770153RETc.128A>G (p.Asp43Gly)
c.30A>G
c.74-10694A>G (n.74-10694A>G)
c.74-11586A>G (n.74-11586A>G)
dbSNP
10g.43100513A>TCA376770154RETc.128A>T (p.Asp43Val)
c.30A>T
c.74-10694A>T (n.74-10694A>T)
c.74-11586A>T (n.74-11586A>T)
10g.43100514C>ACA376770156RETc.129C>A (p.Asp43Glu)
c.31C>A
c.74-10693C>A (n.74-10693C>A)
c.74-11585C>A (n.74-11585C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100514C=CA1905836775RETc.129C= (p.Asp43=)
c.31C=
c.74-10693C= (n.74-10693C=)
c.74-11585C= (n.74-11585C=)
10g.43100514C>GCA376770157RETc.129C>G (p.Asp43Glu)
c.31C>G
c.74-10693C>G (n.74-10693C>G)
c.74-11585C>G (n.74-11585C>G)
ClinVar dbSNP
10g.43100514C>TCA469490405RETc.129C>T (p.Asp43=)
c.31C>T
c.74-10693C>T (n.74-10693C>T)
c.74-11585C>T (n.74-11585C>T)
dbSNP
10g.43100515C>ACA376770158RETc.130C>A (p.Gln44Lys)
c.32C>A
c.74-10692C>A (n.74-10692C>A)
c.74-11584C>A (n.74-11584C>A)
10g.43100515C>GCA376770159RETc.130C>G (p.Gln44Glu)
c.32C>G
c.74-10692C>G (n.74-10692C>G)
c.74-11584C>G (n.74-11584C>G)
dbSNP
10g.43100515C>TCA376770160RETc.130C>T (p.Gln44Ter)
c.32C>T
c.74-10692C>T (n.74-10692C>T)
c.74-11584C>T (n.74-11584C>T)
dbSNP
10g.43100516A>CCA376770161RETc.131A>C (p.Gln44Pro)
c.33A>C
c.74-10691A>C (n.74-10691A>C)
c.74-11583A>C (n.74-11583A>C)
dbSNP
10g.43100516A>GCA376770162RETc.131A>G (p.Gln44Arg)
c.33A>G
c.74-10691A>G (n.74-10691A>G)
c.74-11583A>G (n.74-11583A>G)
dbSNP
10g.43100516A>TCA376770163RETc.131A>T (p.Gln44Leu)
c.33A>T
c.74-10691A>T (n.74-10691A>T)
c.74-11583A>T (n.74-11583A>T)
dbSNP
10g.43100517G>ACA469490414RETc.132G>A (p.Gln44=)
c.34G>A
c.74-10690G>A (n.74-10690G>A)
c.74-11582G>A (n.74-11582G>A)
dbSNP
10g.43100517G>CCA376770164RETc.132G>C (p.Gln44His)
c.34G>C
c.74-10690G>C (n.74-10690G>C)
c.74-11582G>C (n.74-11582G>C)
ClinVar dbSNP
10g.43100517G>TCA376770165RETc.132G>T (p.Gln44His)
c.34G>T
c.74-10690G>T (n.74-10690G>T)
c.74-11582G>T (n.74-11582G>T)
dbSNP
10g.43100518G>ACA376770168RETc.133G>A (p.Ala45Thr)
c.35G>A
c.74-10689G>A (n.74-10689G>A)
c.74-11581G>A (n.74-11581G>A)
ClinVar dbSNP
10g.43100518G>CCA376770167RETc.133G>C (p.Ala45Pro)
c.35G>C
c.74-10689G>C (n.74-10689G>C)
c.74-11581G>C (n.74-11581G>C)
dbSNP
10g.43100518G>TCA376770166RETc.133G>T (p.Ala45Ser)
c.35G>T
c.74-10689G>T (n.74-10689G>T)
c.74-11581G>T (n.74-11581G>T)
10g.43100519C>ACA376770169RETc.134C>A (p.Ala45Glu)
c.36C>A
c.74-10688C>A (n.74-10688C>A)
c.74-11580C>A (n.74-11580C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.43100519C=CA1905836776RETc.134C= (p.Ala45=)
c.36C=
c.74-10688C= (n.74-10688C=)
c.74-11580C= (n.74-11580C=)
10g.43100519C>GCA376770170RETc.134C>G (p.Ala45Gly)
c.36C>G
c.74-10688C>G (n.74-10688C>G)
c.74-11580C>G (n.74-11580C>G)
10g.43100519C>TCA033180RETc.134C>T (p.Ala45Val)
c.36C>T
c.74-10688C>T (n.74-10688C>T)
c.74-11580C>T (n.74-11580C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100519_43100520delinsCACA1905836777RETc.134_135delinsCA (p.Ala45=)
c.36_37delinsCA
c.74-10688_74-10687delinsCA (n.74-10688_74-10687delinsCA)
c.74-11580_74-11579delinsCA (n.74-11580_74-11579delinsCA)
10g.43100519_43100520delinsTGCA1905836778RETc.134_135delinsTG (p.Ala45Val)
c.36_37delinsTG
c.74-10688_74-10687delinsTG (n.74-10688_74-10687delinsTG)
c.74-11580_74-11579delinsTG (n.74-11580_74-11579delinsTG)
dbSNP
10g.43100520A=CA007550RETc.135A= (p.Ala45=)
c.37A=
c.74-10687A= (n.74-10687A=)
c.74-11579A= (n.74-11579A=)
10g.43100520A>CCA469490417RETc.135A>C (p.Ala45=)
c.37A>C
c.74-10687A>C (n.74-10687A>C)
c.74-11579A>C (n.74-11579A>C)
dbSNP
10g.43100520A>GCA009515RETc.135A>G (p.Ala45=)
c.37A>G
c.74-10687A>G (n.74-10687A>G)
c.74-11579A>G (n.74-11579A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100520A>TCA469490418RETc.135A>T (p.Ala45=)
c.37A>T
c.74-10687A>T (n.74-10687A>T)
c.74-11579A>T (n.74-11579A>T)
ClinVar dbSNP
10g.43100520_43100521delinsGTCA2580081468RETc.135_136delinsGT (p.Ala46Ser)
c.37_38delinsGT
c.74-10687_74-10686delinsGT (n.74-10687_74-10686delinsGT)
c.74-11579_74-11578delinsGT (n.74-11579_74-11578delinsGT)
ClinVar
10g.43100521G>ACA376770171RETc.136G>A (p.Ala46Thr)
c.38G>A
c.74-10686G>A (n.74-10686G>A)
c.74-11578G>A (n.74-11578G>A)
dbSNP
10g.43100521G>CCA376770172RETc.136G>C (p.Ala46Pro)
c.38G>C
c.74-10686G>C (n.74-10686G>C)
c.74-11578G>C (n.74-11578G>C)
dbSNP gnomAD v2 gnomAD v4
10g.43100521G=CA1905836779RETc.136G= (p.Ala46=)
c.38G=
c.74-10686G= (n.74-10686G=)
c.74-11578G= (n.74-11578G=)
10g.43100521G>TCA376770173RETc.136G>T (p.Ala46Ser)
c.38G>T
c.74-10686G>T (n.74-10686G>T)
c.74-11578G>T (n.74-11578G>T)
ClinVar dbSNP
10g.43100522C>ACA376770174RETc.137C>A (p.Ala46Asp)
c.39C>A
c.74-10685C>A (n.74-10685C>A)
c.74-11577C>A (n.74-11577C>A)
dbSNP
10g.43100522C=CA1905836780RETc.137C= (p.Ala46=)
c.39C=
c.74-10685C= (n.74-10685C=)
c.74-11577C= (n.74-11577C=)
10g.43100522C>GCA376770175RETc.137C>G (p.Ala46Gly)
c.39C>G
c.74-10685C>G (n.74-10685C>G)
c.74-11577C>G (n.74-11577C>G)
dbSNP
10g.43100522C>TCA376770176RETc.137C>T (p.Ala46Val)
c.39C>T
c.74-10685C>T (n.74-10685C>T)
c.74-11577C>T (n.74-11577C>T)
ClinVar dbSNP
10g.43100523C>ACA469490425RETc.138C>A (p.Ala46=)
c.40C>A
c.74-10684C>A (n.74-10684C>A)
c.74-11576C>A (n.74-11576C>A)
dbSNP
10g.43100523C=CA1905836781RETc.138C= (p.Ala46=)
c.40C=
c.74-10684C= (n.74-10684C=)
c.74-11576C= (n.74-11576C=)
10g.43100523C>GCA469490426RETc.138C>G (p.Ala46=)
c.40C>G
c.74-10684C>G (n.74-10684C>G)
c.74-11576C>G (n.74-11576C>G)
dbSNP
10g.43100523C>TCA469490428RETc.138C>T (p.Ala46=)
c.40C>T
c.74-10684C>T (n.74-10684C>T)
c.74-11576C>T (n.74-11576C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100524G>ACA033463RETc.139G>A (p.Gly47Ser)
c.41G>A
c.74-10683G>A (n.74-10683G>A)
c.74-11575G>A (n.74-11575G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100524G>CCA376770178RETc.139G>C (p.Gly47Arg)
c.41G>C
c.74-10683G>C (n.74-10683G>C)
c.74-11575G>C (n.74-11575G>C)
ClinVar dbSNP
10g.43100524G=CA1905836782RETc.139G= (p.Gly47=)
c.41G=
c.74-10683G= (n.74-10683G=)
c.74-11575G= (n.74-11575G=)
10g.43100524G>TCA376770177RETc.139G>T (p.Gly47Cys)
c.41G>T
c.74-10683G>T (n.74-10683G>T)
c.74-11575G>T (n.74-11575G>T)
dbSNP
10g.43100525G>ACA376770179RETc.140G>A (p.Gly47Asp)
c.42G>A
c.74-10682G>A (n.74-10682G>A)
c.74-11574G>A (n.74-11574G>A)
dbSNP
10g.43100525G>CCA376770180RETc.140G>C (p.Gly47Ala)
c.42G>C
c.74-10682G>C (n.74-10682G>C)
c.74-11574G>C (n.74-11574G>C)
dbSNP
10g.43100525G>TCA376770181RETc.140G>T (p.Gly47Val)
c.42G>T
c.74-10682G>T (n.74-10682G>T)
c.74-11574G>T (n.74-11574G>T)
10g.43100526C>ACA469490440RETc.141C>A (p.Gly47=)
c.43C>A
c.74-10681C>A (n.74-10681C>A)
c.74-11573C>A (n.74-11573C>A)
dbSNP
10g.43100526C>GCA469490442RETc.141C>G (p.Gly47=)
c.43C>G
c.74-10681C>G (n.74-10681C>G)
c.74-11573C>G (n.74-11573C>G)
dbSNP
10g.43100526C>TCA469490441RETc.141C>T (p.Gly47=)
c.43C>T
c.74-10681C>T (n.74-10681C>T)
c.74-11573C>T (n.74-11573C>T)
dbSNP
10g.43100527A>CCA376770182RETc.142A>C (p.Thr48Pro)
c.44A>C
c.74-10680A>C (n.74-10680A>C)
c.74-11572A>C (n.74-11572A>C)
dbSNP
10g.43100527A>GCA376770183RETc.142A>G (p.Thr48Ala)
c.44A>G
c.74-10680A>G (n.74-10680A>G)
c.74-11572A>G (n.74-11572A>G)
dbSNP
10g.43100527A>TCA376770184RETc.142A>T (p.Thr48Ser)
c.44A>T
c.74-10680A>T (n.74-10680A>T)
c.74-11572A>T (n.74-11572A>T)
dbSNP
10g.43100528C>ACA376770185RETc.143C>A (p.Thr48Lys)
c.45C>A
c.74-10679C>A (n.74-10679C>A)
c.74-11571C>A (n.74-11571C>A)
10g.43100528C=CA1905836783RETc.143C= (p.Thr48=)
c.45C=
c.74-10679C= (n.74-10679C=)
c.74-11571C= (n.74-11571C=)
10g.43100528C>GCA376770186RETc.143C>G (p.Thr48Arg)
c.45C>G
c.74-10679C>G (n.74-10679C>G)
c.74-11571C>G (n.74-11571C>G)
dbSNP
10g.43100528C>TCA376770187RETc.143C>T (p.Thr48Met)
c.45C>T
c.74-10679C>T (n.74-10679C>T)
c.74-11571C>T (n.74-11571C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
10g.43100529G>ACA033685RETc.144G>A (p.Thr48=)
c.46G>A
c.74-10678G>A (n.74-10678G>A)
c.74-11570G>A (n.74-11570G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100529G>CCA469490451RETc.144G>C (p.Thr48=)
c.46G>C
c.74-10678G>C (n.74-10678G>C)
c.74-11570G>C (n.74-11570G>C)
dbSNP
10g.43100529G=CA1905836784RETc.144G= (p.Thr48=)
c.46G=
c.74-10678G= (n.74-10678G=)
c.74-11570G= (n.74-11570G=)
10g.43100529G>TCA469490452RETc.144G>T (p.Thr48=)
c.46G>T
c.74-10678G>T (n.74-10678G>T)
c.74-11570G>T (n.74-11570G>T)
ClinVar dbSNP
10g.43100530C>ACA376770188RETc.145C>A (p.Pro49Thr)
c.47C>A
c.74-10677C>A (n.74-10677C>A)
c.74-11569C>A (n.74-11569C>A)
10g.43100530C>GCA376770189RETc.145C>G (p.Pro49Ala)
c.47C>G
c.74-10677C>G (n.74-10677C>G)
c.74-11569C>G (n.74-11569C>G)
dbSNP
10g.43100530C>TCA376770190RETc.145C>T (p.Pro49Ser)
c.47C>T
c.74-10677C>T (n.74-10677C>T)
c.74-11569C>T (n.74-11569C>T)
dbSNP
10g.43100531C>ACA376770192RETc.146C>A (p.Pro49His)
c.48C>A
c.74-10676C>A (n.74-10676C>A)
c.74-11568C>A (n.74-11568C>A)
10g.43100531C>GCA376770193RETc.146C>G (p.Pro49Arg)
c.48C>G
c.74-10676C>G (n.74-10676C>G)
c.74-11568C>G (n.74-11568C>G)
10g.43100531C>TCA376770191RETc.146C>T (p.Pro49Leu)
c.48C>T
c.74-10676C>T (n.74-10676C>T)
c.74-11568C>T (n.74-11568C>T)
10g.43100532C>ACA469490457RETc.147C>A (p.Pro49=)
c.49C>A
c.74-10675C>A (n.74-10675C>A)
c.74-11567C>A (n.74-11567C>A)
dbSNP
10g.43100532C=CA1905836785RETc.147C= (p.Pro49=)
c.49C=
c.74-10675C= (n.74-10675C=)
c.74-11567C= (n.74-11567C=)
10g.43100532C>GCA469490459RETc.147C>G (p.Pro49=)
c.49C>G
c.74-10675C>G (n.74-10675C>G)
c.74-11567C>G (n.74-11567C>G)
ClinVar dbSNP
10g.43100532C>TCA469490460RETc.147C>T (p.Pro49=)
c.49C>T
c.74-10675C>T (n.74-10675C>T)
c.74-11567C>T (n.74-11567C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100533T>ACA376770195RETc.148T>A (p.Leu50Met)
c.50T>A
c.74-10674T>A (n.74-10674T>A)
c.74-11566T>A (n.74-11566T>A)
dbSNP
10g.43100533T>CCA469490462RETc.148T>C (p.Leu50=)
c.50T>C
c.74-10674T>C (n.74-10674T>C)
c.74-11566T>C (n.74-11566T>C)
dbSNP
10g.43100533T>GCA376770194RETc.148T>G (p.Leu50Val)
c.50T>G
c.74-10674T>G (n.74-10674T>G)
c.74-11566T>G (n.74-11566T>G)
10g.43100534T>ACA376770196RETc.149T>A (p.Leu50Ter)
c.51T>A
c.74-10673T>A (n.74-10673T>A)
c.74-11565T>A (n.74-11565T>A)
10g.43100534T>CCA376770197RETc.149T>C (p.Leu50Ser)
c.51T>C
c.74-10673T>C (n.74-10673T>C)
c.74-11565T>C (n.74-11565T>C)
10g.43100534T>GCA376770198RETc.149T>G (p.Leu50Trp)
c.51T>G
c.74-10673T>G (n.74-10673T>G)
c.74-11565T>G (n.74-11565T>G)
10g.43100535G>ACA469490464RETc.150G>A (p.Leu50=)
c.52G>A
c.74-10672G>A (n.74-10672G>A)
c.74-11564G>A (n.74-11564G>A)
dbSNP
10g.43100535G>CCA376770199RETc.150G>C (p.Leu50Phe)
c.52G>C
c.74-10672G>C (n.74-10672G>C)
c.74-11564G>C (n.74-11564G>C)
dbSNP
10g.43100535G>TCA376770200RETc.150G>T (p.Leu50Phe)
c.52G>T
c.74-10672G>T (n.74-10672G>T)
c.74-11564G>T (n.74-11564G>T)
dbSNP
10g.43100536C>ACA376770201RETc.151C>A (p.Leu51Met)
c.53C>A
c.74-10671C>A (n.74-10671C>A)
c.74-11563C>A (n.74-11563C>A)
dbSNP
10g.43100536C>GCA376770202RETc.151C>G (p.Leu51Val)
c.53C>G
c.74-10671C>G (n.74-10671C>G)
c.74-11563C>G (n.74-11563C>G)
dbSNP
10g.43100536C>TCA469490468RETc.151C>T (p.Leu51=)
c.53C>T
c.74-10671C>T (n.74-10671C>T)
c.74-11563C>T (n.74-11563C>T)
dbSNP COSMIC COSMIC
10g.43100537T>ACA376770203RETc.152T>A (p.Leu51Gln)
c.54T>A
c.74-10670T>A (n.74-10670T>A)
c.74-11562T>A (n.74-11562T>A)
dbSNP
10g.43100537T>CCA376770204RETc.152T>C (p.Leu51Pro)
c.54T>C
c.74-10670T>C (n.74-10670T>C)
c.74-11562T>C (n.74-11562T>C)
dbSNP
10g.43100537T>GCA376770205RETc.152T>G (p.Leu51Arg)
c.54T>G
c.74-10670T>G (n.74-10670T>G)
c.74-11562T>G (n.74-11562T>G)
10g.43100538G>ACA469490469RETc.153G>A (p.Leu51=)
c.55G>A
c.74-10669G>A (n.74-10669G>A)
c.74-11561G>A (n.74-11561G>A)
ClinVar dbSNP gnomAD v4
10g.43100538G>CCA469490472RETc.153G>C (p.Leu51=)
c.55G>C
c.74-10669G>C (n.74-10669G>C)
c.74-11561G>C (n.74-11561G>C)
ClinVar dbSNP gnomAD v4
10g.43100538G=CA1905836786RETc.153G= (p.Leu51=)
c.55G=
c.74-10669G= (n.74-10669G=)
c.74-11561G= (n.74-11561G=)
10g.43100538G>TCA469490470RETc.153G>T (p.Leu51=)
c.55G>T
c.74-10669G>T (n.74-10669G>T)
c.74-11561G>T (n.74-11561G>T)
10g.43100540_43100543delCA2695211966RETc.155_158del (p.Tyr52SerfsTer?)
c.57_60del
c.74-10667_74-10664del (n.74-10667_74-10664del)
c.74-11559_74-11556del (n.74-11559_74-11556del)
10g.43100539T>ACA376770208RETc.154T>A (p.Tyr52Asn)
c.56T>A
c.74-10668T>A (n.74-10668T>A)
c.74-11560T>A (n.74-11560T>A)
dbSNP
10g.43100539T>CCA376770207RETc.154T>C (p.Tyr52His)
c.56T>C
c.74-10668T>C (n.74-10668T>C)
c.74-11560T>C (n.74-11560T>C)
ClinVar dbSNP
10g.43100539T>GCA376770206RETc.154T>G (p.Tyr52Asp)
c.56T>G
c.74-10668T>G (n.74-10668T>G)
c.74-11560T>G (n.74-11560T>G)
dbSNP
10g.43100540A>CCA376770209RETc.155A>C (p.Tyr52Ser)
c.57A>C
c.74-10667A>C (n.74-10667A>C)
c.74-11559A>C (n.74-11559A>C)
ClinVar dbSNP
10g.43100540A>GCA376770210RETc.155A>G (p.Tyr52Cys)
c.57A>G
c.74-10667A>G (n.74-10667A>G)
c.74-11559A>G (n.74-11559A>G)
dbSNP
10g.43100540A>TCA376770211RETc.155A>T (p.Tyr52Phe)
c.57A>T
c.74-10667A>T (n.74-10667A>T)
c.74-11559A>T (n.74-11559A>T)
dbSNP
10g.43100541C>ACA376770212RETc.156C>A (p.Tyr52Ter)
c.58C>A
c.74-10666C>A (n.74-10666C>A)
c.74-11558C>A (n.74-11558C>A)
dbSNP
10g.43100541C=CA1905836787RETc.156C= (p.Tyr52=)
c.58C=
c.74-10666C= (n.74-10666C=)
c.74-11558C= (n.74-11558C=)
10g.43100541C>GCA376770213RETc.156C>G (p.Tyr52Ter)
c.58C>G
c.74-10666C>G (n.74-10666C>G)
c.74-11558C>G (n.74-11558C>G)
dbSNP
10g.43100541C>TCA206713120RETc.156C>T (p.Tyr52=)
c.58C>T
c.74-10666C>T (n.74-10666C>T)
c.74-11558C>T (n.74-11558C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.43100542G>ACA034527RETc.157G>A (p.Val53Ile)
c.59G>A
c.74-10665G>A (n.74-10665G>A)
c.74-11557G>A (n.74-11557G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100542G>CCA376770214RETc.157G>C (p.Val53Leu)
c.59G>C
c.74-10665G>C (n.74-10665G>C)
c.74-11557G>C (n.74-11557G>C)
dbSNP
10g.43100542G=CA1905836788RETc.157G= (p.Val53=)
c.59G=
c.74-10665G= (n.74-10665G=)
c.74-11557G= (n.74-11557G=)
10g.43100542G>TCA376770215RETc.157G>T (p.Val53Phe)
c.59G>T
c.74-10665G>T (n.74-10665G>T)
c.74-11557G>T (n.74-11557G>T)
10g.43100543T>ACA376770216RETc.158T>A (p.Val53Asp)
c.60T>A
c.74-10664T>A (n.74-10664T>A)
c.74-11556T>A (n.74-11556T>A)
10g.43100543T>CCA376770217RETc.158T>C (p.Val53Ala)
c.60T>C
c.74-10664T>C (n.74-10664T>C)
c.74-11556T>C (n.74-11556T>C)
ClinVar dbSNP
10g.43100543T>GCA376770218RETc.158T>G (p.Val53Gly)
c.60T>G
c.74-10664T>G (n.74-10664T>G)
c.74-11556T>G (n.74-11556T>G)
COSMIC COSMIC
10g.43100544C>ACA469490478RETc.159C>A (p.Val53=)
c.61C>A
c.74-10663C>A (n.74-10663C>A)
c.74-11555C>A (n.74-11555C>A)
10g.43100544C=CA1905836789RETc.159C= (p.Val53=)
c.61C=
c.74-10663C= (n.74-10663C=)
c.74-11555C= (n.74-11555C=)
10g.43100544C>GCA469490479RETc.159C>G (p.Val53=)
c.61C>G
c.74-10663C>G (n.74-10663C>G)
c.74-11555C>G (n.74-11555C>G)
ClinVar
10g.43100544C>TCA034592RETc.159C>T (p.Val53=)
c.61C>T
c.74-10663C>T (n.74-10663C>T)
c.74-11555C>T (n.74-11555C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100545C>ACA376770220RETc.160C>A (p.His54Asn)
c.62C>A
c.74-10662C>A (n.74-10662C>A)
c.74-11554C>A (n.74-11554C>A)
dbSNP
10g.43100545C>GCA376770221RETc.160C>G (p.His54Asp)
c.62C>G
c.74-10662C>G (n.74-10662C>G)
c.74-11554C>G (n.74-11554C>G)
dbSNP
10g.43100545C>TCA376770219RETc.160C>T (p.His54Tyr)
c.62C>T
c.74-10662C>T (n.74-10662C>T)
c.74-11554C>T (n.74-11554C>T)
ClinVar dbSNP
10g.43100546A=CA1905836790RETc.161A= (p.His54=)
c.63A=
c.74-10661A= (n.74-10661A=)
c.74-11553A= (n.74-11553A=)
10g.43100546A>CCA376770222RETc.161A>C (p.His54Pro)
c.63A>C
c.74-10661A>C (n.74-10661A>C)
c.74-11553A>C (n.74-11553A>C)
dbSNP
10g.43100546A>GCA034670RETc.161A>G (p.His54Arg)
c.63A>G
c.74-10661A>G (n.74-10661A>G)
c.74-11553A>G (n.74-11553A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100546A>TCA376770223RETc.161A>T (p.His54Leu)
c.63A>T
c.74-10661A>T (n.74-10661A>T)
c.74-11553A>T (n.74-11553A>T)
dbSNP
10g.43100547delCA913185932RETc.162del (p.His54GlnfsTer?)
c.64del
c.74-10660del (n.74-10660del)
c.74-11552del (n.74-11552del)
10g.43100547T>ACA376770224RETc.162T>A (p.His54Gln)
c.64T>A
c.74-10660T>A (n.74-10660T>A)
c.74-11552T>A (n.74-11552T>A)
dbSNP
10g.43100547T>CCA469490485RETc.162T>C (p.His54=)
c.64T>C
c.74-10660T>C (n.74-10660T>C)
c.74-11552T>C (n.74-11552T>C)
ClinVar dbSNP
10g.43100547T>GCA376770225RETc.162T>G (p.His54Gln)
c.64T>G
c.74-10660T>G (n.74-10660T>G)
c.74-11552T>G (n.74-11552T>G)
dbSNP
10g.43100547_43100549delinsGGCA913185933RETc.162_164delinsGG (p.His54GlnfsTer?)
c.64_66delinsGG
c.74-10660_74-10658delinsGG (n.74-10660_74-10658delinsGG)
c.74-11552_74-11550delinsGG (n.74-11552_74-11550delinsGG)
10g.43100548G>ACA376770226RETc.163G>A (p.Ala55Thr)
c.65G>A
c.74-10659G>A (n.74-10659G>A)
c.74-11551G>A (n.74-11551G>A)
dbSNP
10g.43100548G>CCA376770227RETc.163G>C (p.Ala55Pro)
c.65G>C
c.74-10659G>C (n.74-10659G>C)
c.74-11551G>C (n.74-11551G>C)
dbSNP
10g.43100548G>TCA376770228RETc.163G>T (p.Ala55Ser)
c.65G>T
c.74-10659G>T (n.74-10659G>T)
c.74-11551G>T (n.74-11551G>T)
10g.43100549C>ACA376770229RETc.164C>A (p.Ala55Asp)
c.66C>A
c.74-10658C>A (n.74-10658C>A)
c.74-11550C>A (n.74-11550C>A)
dbSNP
10g.43100549C=CA1905836791RETc.164C= (p.Ala55=)
c.66C=
c.74-10658C= (n.74-10658C=)
c.74-11550C= (n.74-11550C=)
10g.43100549C>GCA376770230RETc.164C>G (p.Ala55Gly)
c.66C>G
c.74-10658C>G (n.74-10658C>G)
c.74-11550C>G (n.74-11550C>G)
dbSNP
10g.43100549C>TCA376770231RETc.164C>T (p.Ala55Val)
c.66C>T
c.74-10658C>T (n.74-10658C>T)
c.74-11550C>T (n.74-11550C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.43100550C>ACA469490493RETc.165C>A (p.Ala55=)
c.67C>A
c.74-10657C>A (n.74-10657C>A)
c.74-11549C>A (n.74-11549C>A)
dbSNP
10g.43100550C=CA1905836792RETc.165C= (p.Ala55=)
c.67C=
c.74-10657C= (n.74-10657C=)
c.74-11549C= (n.74-11549C=)
10g.43100550C>GCA034946RETc.165C>G (p.Ala55=)
c.67C>G
c.74-10657C>G (n.74-10657C>G)
c.74-11549C>G (n.74-11549C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100550C>TCA469490494RETc.165C>T (p.Ala55=)
c.67C>T
c.74-10657C>T (n.74-10657C>T)
c.74-11549C>T (n.74-11549C>T)
dbSNP
10g.43100551C>ACA007702RETc.166C>A (p.Leu56Met)
c.68C>A
c.74-10656C>A (n.74-10656C>A)
c.74-11548C>A (n.74-11548C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100551C=CA1905836793RETc.166C= (p.Leu56=)
c.68C=
c.74-10656C= (n.74-10656C=)
c.74-11548C= (n.74-11548C=)
10g.43100551C>GCA376770232RETc.166C>G (p.Leu56Val)
c.68C>G
c.74-10656C>G (n.74-10656C>G)
c.74-11548C>G (n.74-11548C>G)
dbSNP
10g.43100551C>TCA035002RETc.166C>T (p.Leu56=)
c.68C>T
c.74-10656C>T (n.74-10656C>T)
c.74-11548C>T (n.74-11548C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100552T>ACA376770233RETc.167T>A (p.Leu56Gln)
c.69T>A
c.74-10655T>A (n.74-10655T>A)
c.74-11547T>A (n.74-11547T>A)
dbSNP
10g.43100552T>CCA376770234RETc.167T>C (p.Leu56Pro)
c.69T>C
c.74-10655T>C (n.74-10655T>C)
c.74-11547T>C (n.74-11547T>C)
dbSNP
10g.43100552T>GCA376770235RETc.167T>G (p.Leu56Arg)
c.69T>G
c.74-10655T>G (n.74-10655T>G)
c.74-11547T>G (n.74-11547T>G)
10g.43100553G>ACA469490504RETc.168G>A (p.Leu56=)
c.70G>A
c.74-10654G>A (n.74-10654G>A)
c.74-11546G>A (n.74-11546G>A)
dbSNP
10g.43100553G>CCA469490502RETc.168G>C (p.Leu56=)
c.70G>C
c.74-10654G>C (n.74-10654G>C)
c.74-11546G>C (n.74-11546G>C)
dbSNP
10g.43100553G>TCA469490503RETc.168G>T (p.Leu56=)
c.70G>T
c.74-10654G>T (n.74-10654G>T)
c.74-11546G>T (n.74-11546G>T)
10g.43100554C>ACA469490506RETc.169C>A (p.Arg57=)
c.71C>A
c.74-10653C>A (n.74-10653C>A)
c.74-11545C>A (n.74-11545C>A)
dbSNP
10g.43100554C=CA1905836794RETc.169C= (p.Arg57=)
c.71C=
c.74-10653C= (n.74-10653C=)
c.74-11545C= (n.74-11545C=)
10g.43100554C>GCA376770236RETc.169C>G (p.Arg57Gly)
c.71C>G
c.74-10653C>G (n.74-10653C>G)
c.74-11545C>G (n.74-11545C>G)
ClinVar dbSNP
10g.43100554C>TCA10578857RETc.169C>T (p.Arg57Trp)
c.71C>T
c.74-10653C>T (n.74-10653C>T)
c.74-11545C>T (n.74-11545C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100555G>ACA035162RETc.170G>A (p.Arg57Gln)
c.72G>A
c.74-10652G>A (n.74-10652G>A)
c.74-11544G>A (n.74-11544G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100555G>CCA376770238RETc.170G>C (p.Arg57Pro)
c.72G>C
c.74-10652G>C (n.74-10652G>C)
c.74-11544G>C (n.74-11544G>C)
10g.43100555G=CA1905836795RETc.170G= (p.Arg57=)
c.72G=
c.74-10652G= (n.74-10652G=)
c.74-11544G= (n.74-11544G=)
10g.43100555G>TCA376770237RETc.170G>T (p.Arg57Leu)
c.72G>T
c.74-10652G>T (n.74-10652G>T)
c.74-11544G>T (n.74-11544G>T)
10g.43100557delCA891842070RETc.172del (p.Asp58ThrfsTer?)
c.74del
c.74-10650del (n.74-10650del)
c.74-11542del (n.74-11542del)
10g.43100556G>ACA469490509RETc.171G>A (p.Arg57=)
c.73G>A
c.74-10651G>A (n.74-10651G>A)
c.74-11543G>A (n.74-11543G>A)
ClinVar dbSNP
10g.43100556G>CCA469490510RETc.171G>C (p.Arg57=)
c.73G>C
c.74-10651G>C (n.74-10651G>C)
c.74-11543G>C (n.74-11543G>C)
dbSNP
10g.43100556G>TCA469490512RETc.171G>T (p.Arg57=)
c.73G>T
c.74-10651G>T (n.74-10651G>T)
c.74-11543G>T (n.74-11543G>T)
dbSNP
10g.43100557G>ACA376770239RETc.172G>A (p.Asp58Asn)
c.74G>A
c.74-10650G>A (n.74-10650G>A)
c.74-11542G>A (n.74-11542G>A)
ClinVar dbSNP gnomAD v2
10g.43100557G>CCA376770240RETc.172G>C (p.Asp58His)
c.74G>C
c.74-10650G>C (n.74-10650G>C)
c.74-11542G>C (n.74-11542G>C)
dbSNP
10g.43100557G=CA1905836796RETc.172G= (p.Asp58=)
c.74G=
c.74-10650G= (n.74-10650G=)
c.74-11542G= (n.74-11542G=)
10g.43100557G>TCA376770241RETc.172G>T (p.Asp58Tyr)
c.74G>T
c.74-10650G>T (n.74-10650G>T)
c.74-11542G>T (n.74-11542G>T)
dbSNP
10g.43100558A>CCA376770242RETc.173A>C (p.Asp58Ala)
c.75A>C
c.74-10649A>C (n.74-10649A>C)
c.74-11541A>C (n.74-11541A>C)
dbSNP
10g.43100558A>GCA376770243RETc.173A>G (p.Asp58Gly)
c.75A>G
c.74-10649A>G (n.74-10649A>G)
c.74-11541A>G (n.74-11541A>G)
dbSNP
10g.43100558A>TCA376770244RETc.173A>T (p.Asp58Val)
c.75A>T
c.74-10649A>T (n.74-10649A>T)
c.74-11541A>T (n.74-11541A>T)
dbSNP
10g.43100559C>ACA376770246RETc.174C>A (p.Asp58Glu)
c.76C>A
c.74-10648C>A (n.74-10648C>A)
c.74-11540C>A (n.74-11540C>A)
10g.43100559C=CA1905836797RETc.174C= (p.Asp58=)
c.76C=
c.74-10648C= (n.74-10648C=)
c.74-11540C= (n.74-11540C=)
10g.43100559C>GCA376770245RETc.174C>G (p.Asp58Glu)
c.76C>G
c.74-10648C>G (n.74-10648C>G)
c.74-11540C>G (n.74-11540C>G)
dbSNP
10g.43100559C>TCA035259RETc.174C>T (p.Asp58=)
c.76C>T
c.74-10648C>T (n.74-10648C>T)
c.74-11540C>T (n.74-11540C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100560G>ACA035435RETc.175G>A (p.Ala59Thr)
c.77G>A
c.74-10647G>A (n.74-10647G>A)
c.74-11539G>A (n.74-11539G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100560G>CCA376770248RETc.175G>C (p.Ala59Pro)
c.77G>C
c.74-10647G>C (n.74-10647G>C)
c.74-11539G>C (n.74-11539G>C)
dbSNP
10g.43100560G=CA1905836798RETc.175G= (p.Ala59=)
c.77G=
c.74-10647G= (n.74-10647G=)
c.74-11539G= (n.74-11539G=)
10g.43100560G>TCA376770247RETc.175G>T (p.Ala59Ser)
c.77G>T
c.74-10647G>T (n.74-10647G>T)
c.74-11539G>T (n.74-11539G>T)
gnomAD v4
10g.43100561C>ACA376770249RETc.176C>A (p.Ala59Asp)
c.78C>A
c.74-10646C>A (n.74-10646C>A)
c.74-11538C>A (n.74-11538C>A)
10g.43100561C=CA1905836799RETc.176C= (p.Ala59=)
c.78C=
c.74-10646C= (n.74-10646C=)
c.74-11538C= (n.74-11538C=)
10g.43100561C>GCA376770250RETc.176C>G (p.Ala59Gly)
c.78C>G
c.74-10646C>G (n.74-10646C>G)
c.74-11538C>G (n.74-11538C>G)
10g.43100561C>TCA376770251RETc.176C>T (p.Ala59Val)
c.78C>T
c.74-10646C>T (n.74-10646C>T)
c.74-11538C>T (n.74-11538C>T)
ClinVar dbSNP
10g.43100562C>ACA035632RETc.177C>A (p.Ala59=)
c.79C>A
c.74-10645C>A (n.74-10645C>A)
c.74-11537C>A (n.74-11537C>A)
ClinVar dbSNP ExAC gnomAD v2
10g.43100562C=CA1905836800RETc.177C= (p.Ala59=)
c.79C=
c.74-10645C= (n.74-10645C=)
c.74-11537C= (n.74-11537C=)
10g.43100562C>GCA469490525RETc.177C>G (p.Ala59=)
c.79C>G
c.74-10645C>G (n.74-10645C>G)
c.74-11537C>G (n.74-11537C>G)
ClinVar dbSNP gnomAD v4
10g.43100562C>TCA469490524RETc.177C>T (p.Ala59=)
c.79C>T
c.74-10645C>T (n.74-10645C>T)
c.74-11537C>T (n.74-11537C>T)
dbSNP
10g.43100563C>ACA16613047RETc.178C>A (p.Pro60Thr)
c.80C>A
c.74-10644C>A (n.74-10644C>A)
c.74-11536C>A (n.74-11536C>A)
ClinVar dbSNP
10g.43100563C=CA1905836801RETc.178C= (p.Pro60=)
c.80C=
c.74-10644C= (n.74-10644C=)
c.74-11536C= (n.74-11536C=)
10g.43100563C>GCA376770252RETc.178C>G (p.Pro60Ala)
c.80C>G
c.74-10644C>G (n.74-10644C>G)
c.74-11536C>G (n.74-11536C>G)
dbSNP
10g.43100563C>TCA035676RETc.178C>T (p.Pro60Ser)
c.80C>T
c.74-10644C>T (n.74-10644C>T)
c.74-11536C>T (n.74-11536C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.43100564C>ACA376770253RETc.179C>A (p.Pro60His)
c.81C>A
c.74-10643C>A (n.74-10643C>A)
c.74-11535C>A (n.74-11535C>A)
dbSNP
10g.43100564C=CA1905836802RETc.179C= (p.Pro60=)
c.81C=
c.74-10643C= (n.74-10643C=)
c.74-11535C= (n.74-11535C=)
10g.43100564C>GCA376770254RETc.179C>G (p.Pro60Arg)
c.81C>G
c.74-10643C>G (n.74-10643C>G)
c.74-11535C>G (n.74-11535C>G)
dbSNP
10g.43100564C>TCA376770255RETc.179C>T (p.Pro60Leu)
c.81C>T
c.74-10643C>T (n.74-10643C>T)
c.74-11535C>T (n.74-11535C>T)
ClinVar dbSNP gnomAD v4
10g.43100565delCA2695211967RETc.180del (p.Glu61ArgfsTer?)
c.82del
c.74-10642del (n.74-10642del)
c.74-11534del (n.74-11534del)
10g.43100565T>ACA469490536RETc.180T>A (p.Pro60=)
c.82T>A
c.74-10642T>A (n.74-10642T>A)
c.74-11534T>A (n.74-11534T>A)
10g.43100565T>CCA469490531RETc.180T>C (p.Pro60=)
c.82T>C
c.74-10642T>C (n.74-10642T>C)
c.74-11534T>C (n.74-11534T>C)
gnomAD v4
10g.43100565T>GCA469490533RETc.180T>G (p.Pro60=)
c.82T>G
c.74-10642T>G (n.74-10642T>G)
c.74-11534T>G (n.74-11534T>G)
ClinVar dbSNP
10g.43100566G>ACA376770256RETc.181G>A (p.Glu61Lys)
c.83G>A
c.74-10641G>A (n.74-10641G>A)
c.74-11533G>A (n.74-11533G>A)
ClinVar dbSNP
10g.43100566G>CCA376770257RETc.181G>C (p.Glu61Gln)
c.83G>C
c.74-10641G>C (n.74-10641G>C)
c.74-11533G>C (n.74-11533G>C)
dbSNP
10g.43100566G=CA1905836803RETc.181G= (p.Glu61=)
c.83G=
c.74-10641G= (n.74-10641G=)
c.74-11533G= (n.74-11533G=)
10g.43100566G>TCA376770258RETc.181G>T (p.Glu61Ter)
c.83G>T
c.74-10641G>T (n.74-10641G>T)
c.74-11533G>T (n.74-11533G>T)
dbSNP
10g.43100567A=CA1905836804RETc.182A= (p.Glu61=)
c.84A=
c.74-10640A= (n.74-10640A=)
c.74-11532A= (n.74-11532A=)
10g.43100567A>CCA376770261RETc.182A>C (p.Glu61Ala)
c.84A>C
c.74-10640A>C (n.74-10640A>C)
c.74-11532A>C (n.74-11532A>C)
ClinVar dbSNP
10g.43100567A>GCA376770260RETc.182A>G (p.Glu61Gly)
c.84A>G
c.74-10640A>G (n.74-10640A>G)
c.74-11532A>G (n.74-11532A>G)
10g.43100567A>TCA376770259RETc.182A>T (p.Glu61Val)
c.84A>T
c.74-10640A>T (n.74-10640A>T)
c.74-11532A>T (n.74-11532A>T)
dbSNP
10g.43100568G>ACA469490543RETc.183G>A (p.Glu61=)
c.85G>A
c.74-10639G>A (n.74-10639G>A)
c.74-11531G>A (n.74-11531G>A)
ClinVar dbSNP gnomAD v2
10g.43100568G>CCA16622049RETc.183G>C (p.Glu61Asp)
c.85G>C
c.74-10639G>C (n.74-10639G>C)
c.74-11531G>C (n.74-11531G>C)
ClinVar dbSNP gnomAD v4
10g.43100568G=CA1905836805RETc.183G= (p.Glu61=)
c.85G=
c.74-10639G= (n.74-10639G=)
c.74-11531G= (n.74-11531G=)
10g.43100568G>TCA376770262RETc.183G>T (p.Glu61Asp)
c.85G>T
c.74-10639G>T (n.74-10639G>T)
c.74-11531G>T (n.74-11531G>T)
dbSNP
10g.43100569G>ACA376770263RETc.184G>A (p.Glu62Lys)
c.86G>A
c.74-10638G>A (n.74-10638G>A)
c.74-11530G>A (n.74-11530G>A)
dbSNP COSMIC COSMIC
10g.43100569G>CCA376770264RETc.184G>C (p.Glu62Gln)
c.86G>C
c.74-10638G>C (n.74-10638G>C)
c.74-11530G>C (n.74-11530G>C)
dbSNP
10g.43100569G>TCA376770265RETc.184G>T (p.Glu62Ter)
c.86G>T
c.74-10638G>T (n.74-10638G>T)
c.74-11530G>T (n.74-11530G>T)
dbSNP
10g.43100570A>CCA376770266RETc.185A>C (p.Glu62Ala)
c.87A>C
c.74-10637A>C (n.74-10637A>C)
c.74-11529A>C (n.74-11529A>C)
10g.43100570A>GCA376770267RETc.185A>G (p.Glu62Gly)
c.87A>G
c.74-10637A>G (n.74-10637A>G)
c.74-11529A>G (n.74-11529A>G)
dbSNP
10g.43100570A>TCA376770268RETc.185A>T (p.Glu62Val)
c.87A>T
c.74-10637A>T (n.74-10637A>T)
c.74-11529A>T (n.74-11529A>T)
dbSNP
10g.43100571G>ACA469490547RETc.186G>A (p.Glu62=)
c.88G>A
c.74-10636G>A (n.74-10636G>A)
c.74-11528G>A (n.74-11528G>A)
ClinVar dbSNP gnomAD v4
10g.43100571G>CCA376770269RETc.186G>C (p.Glu62Asp)
c.88G>C
c.74-10636G>C (n.74-10636G>C)
c.74-11528G>C (n.74-11528G>C)
ClinVar dbSNP
10g.43100571G=CA1905836806RETc.186G= (p.Glu62=)
c.88G=
c.74-10636G= (n.74-10636G=)
c.74-11528G= (n.74-11528G=)
10g.43100571G>TCA376770270RETc.186G>T (p.Glu62Asp)
c.88G>T
c.74-10636G>T (n.74-10636G>T)
c.74-11528G>T (n.74-11528G>T)
10g.43100572G>ACA376770271RETc.187G>A (p.Val63Met)
c.89G>A
c.74-10635G>A (n.74-10635G>A)
c.74-11527G>A (n.74-11527G>A)
ClinVar dbSNP
10g.43100572G>CCA376770272RETc.187G>C (p.Val63Leu)
c.89G>C
c.74-10635G>C (n.74-10635G>C)
c.74-11527G>C (n.74-11527G>C)
dbSNP
10g.43100572G=CA1905836807RETc.187G= (p.Val63=)
c.89G=
c.74-10635G= (n.74-10635G=)
c.74-11527G= (n.74-11527G=)
10g.43100572G>TCA036079RETc.187G>T (p.Val63Leu)
c.89G>T
c.74-10635G>T (n.74-10635G>T)
c.74-11527G>T (n.74-11527G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100573T>ACA376770274RETc.188T>A (p.Val63Glu)
c.90T>A
c.74-10634T>A (n.74-10634T>A)
c.74-11526T>A (n.74-11526T>A)
dbSNP
10g.43100573T>CCA376770275RETc.188T>C (p.Val63Ala)
c.90T>C
c.74-10634T>C (n.74-10634T>C)
c.74-11526T>C (n.74-11526T>C)
dbSNP
10g.43100573T>GCA376770273RETc.188T>G (p.Val63Gly)
c.90T>G
c.74-10634T>G (n.74-10634T>G)
c.74-11526T>G (n.74-11526T>G)
dbSNP
10g.43100574G>ACA036415RETc.189G>A (p.Val63=)
c.91G>A
c.74-10633G>A (n.74-10633G>A)
c.74-11525G>A (n.74-11525G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.43100574G>CCA469490556RETc.189G>C (p.Val63=)
c.91G>C
c.74-10633G>C (n.74-10633G>C)
c.74-11525G>C (n.74-11525G>C)
10g.43100574G=CA1905836808RETc.189G= (p.Val63=)
c.91G=
c.74-10633G= (n.74-10633G=)
c.74-11525G= (n.74-11525G=)
10g.43100574G>TCA469490555RETc.189G>T (p.Val63=)
c.91G>T
c.74-10633G>T (n.74-10633G>T)
c.74-11525G>T (n.74-11525G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.43100575C>ACA376770276RETc.190C>A (p.Pro64Thr)
c.92C>A
c.74-10632C>A (n.74-10632C>A)
c.74-11524C>A (n.74-11524C>A)
dbSNP
10g.43100575C>GCA376770277RETc.190C>G (p.Pro64Ala)
c.92C>G
c.74-10632C>G (n.74-10632C>G)
c.74-11524C>G (n.74-11524C>G)
dbSNP
10g.43100575C>TCA376770278RETc.190C>T (p.Pro64Ser)
c.92C>T
c.74-10632C>T (n.74-10632C>T)
c.74-11524C>T (n.74-11524C>T)
ClinVar dbSNP

Number of alleles fetched