Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261782_122261784delCA1397873058CASRc.747_749del (p.Glu250del)
c.264_266del (p.Glu89del)
c.159_161del (p.Glu54del)
 ClinVar dbSNP
3g.122261783G>ACA202250CASRc.748G>A (p.Glu250Lys)
c.265G>A (p.Glu89Lys)
c.160G>A (p.Glu54Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261783G>CCA354151270CASRc.748G>C (p.Glu250Gln)
c.265G>C (p.Glu89Gln)
c.160G>C (p.Glu54Gln)
3g.122261783G=CA1397873061CASRc.748G= (p.Glu250=)
c.265G= (p.Glu89=)
c.160G= (p.Glu54=)
3g.122261783G>TCA354151269CASRc.748G>T (p.Glu250Ter)
c.265G>T (p.Glu89Ter)
c.160G>T (p.Glu54Ter)
3g.122261784A=CA1397873064CASRc.749A= (p.Glu250=)
c.266A= (p.Glu89=)
c.161A= (p.Glu54=)
3g.122261784A>CCA354151271CASRc.749A>C (p.Glu250Ala)
c.266A>C (p.Glu89Ala)
c.161A>C (p.Glu54Ala)
3g.122261784A>GCA354151272CASRc.749A>G (p.Glu250Gly)
c.266A>G (p.Glu89Gly)
c.161A>G (p.Glu54Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261784A>TCA354151273CASRc.749A>T (p.Glu250Val)
c.266A>T (p.Glu89Val)
c.161A>T (p.Glu54Val)
3g.122261785A>CCA354151274CASRc.750A>C (p.Glu250Asp)
c.267A>C (p.Glu89Asp)
c.162A>C (p.Glu54Asp)
 ClinVar gnomAD v3 gnomAD v4
3g.122261785A>GCA435424287CASRc.750A>G (p.Glu250=)
c.267A>G (p.Glu89=)
c.162A>G (p.Glu54=)
3g.122261785A>TCA354151275CASRc.750A>T (p.Glu250Asp)
c.267A>T (p.Glu89Asp)
c.162A>T (p.Glu54Asp)
3g.122261786G>ACA354151276CASRc.751G>A (p.Glu251Lys)
c.268G>A (p.Glu90Lys)
c.163G>A (p.Glu55Lys)
 gnomAD v4
3g.122261786G>CCA16611086CASRc.751G>C (p.Glu251Gln)
c.268G>C (p.Glu90Gln)
c.163G>C (p.Glu55Gln)
 ClinVar dbSNP
3g.122261786G=CA1397873066CASRc.751G= (p.Glu251=)
c.268G= (p.Glu90=)
c.163G= (p.Glu55=)
3g.122261786G>TCA354151277CASRc.751G>T (p.Glu251Ter)
c.268G>T (p.Glu90Ter)
c.163G>T (p.Glu55Ter)
3g.122261786_122261790delCA2522536752CASRc.751_755del (p.Glu251ProfsTer25)
c.268_272del (p.Glu90ProfsTer25)
c.163_167del (p.Glu55ProfsTer25)
3g.122261787A=CA1397873069CASRc.752A= (p.Glu251=)
c.269A= (p.Glu90=)
c.164A= (p.Glu55=)
3g.122261787A>CCA354151278CASRc.752A>C (p.Glu251Ala)
c.269A>C (p.Glu90Ala)
c.164A>C (p.Glu55Ala)
3g.122261787A>GCA2569528CASRc.752A>G (p.Glu251Gly)
c.269A>G (p.Glu90Gly)
c.164A>G (p.Glu55Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261787A>TCA354151279CASRc.752A>T (p.Glu251Val)
c.269A>T (p.Glu90Val)
c.164A>T (p.Glu55Val)
3g.122261788G>ACA435424290CASRc.753G>A (p.Glu251=)
c.270G>A (p.Glu90=)
c.165G>A (p.Glu55=)
 ClinVar gnomAD v4 COSMIC
3g.122261788G>CCA354151280CASRc.753G>C (p.Glu251Asp)
c.270G>C (p.Glu90Asp)
c.165G>C (p.Glu55Asp)
 ClinVar dbSNP gnomAD v4
3g.122261788G=CA1397873071CASRc.753G= (p.Glu251=)
c.270G= (p.Glu90=)
c.165G= (p.Glu55=)
3g.122261788G>TCA354151281CASRc.753G>T (p.Glu251Asp)
c.270G>T (p.Glu90Asp)
c.165G>T (p.Glu55Asp)
3g.122261789A>CCA354151284CASRc.754A>C (p.Ile252Leu)
c.271A>C (p.Ile91Leu)
c.166A>C (p.Ile56Leu)
3g.122261789A>GCA354151283CASRc.754A>G (p.Ile252Val)
c.271A>G (p.Ile91Val)
c.166A>G (p.Ile56Val)
 ClinVar dbSNP
3g.122261789A>TCA354151282CASRc.754A>T (p.Ile252Phe)
c.271A>T (p.Ile91Phe)
c.166A>T (p.Ile56Phe)
 ClinVar
3g.122261790T>ACA354151285CASRc.755T>A (p.Ile252Asn)
c.272T>A (p.Ile91Asn)
c.167T>A (p.Ile56Asn)
 ClinVar dbSNP gnomAD v4
3g.122261790T>CCA354151286CASRc.755T>C (p.Ile252Thr)
c.272T>C (p.Ile91Thr)
c.167T>C (p.Ile56Thr)
3g.122261790T>GCA354151287CASRc.755T>G (p.Ile252Ser)
c.272T>G (p.Ile91Ser)
c.167T>G (p.Ile56Ser)
3g.122261790T=CA1397873074CASRc.755T= (p.Ile252=)
c.272T= (p.Ile91=)
c.167T= (p.Ile56=)
3g.122261791C>ACA435424293CASRc.756C>A (p.Ile252=)
c.273C>A (p.Ile91=)
c.168C>A (p.Ile56=)
 ClinVar dbSNP
3g.122261791C=CA1397873075CASRc.756C= (p.Ile252=)
c.273C= (p.Ile91=)
c.168C= (p.Ile56=)
3g.122261791C>GCA354151288CASRc.756C>G (p.Ile252Met)
c.273C>G (p.Ile91Met)
c.168C>G (p.Ile56Met)
 ClinVar
3g.122261791C>TCA82738476CASRc.756C>T (p.Ile252=)
c.273C>T (p.Ile91=)
c.168C>T (p.Ile56=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261792C>ACA2569529CASRc.757C>A (p.Gln253Lys)
c.274C>A (p.Gln92Lys)
c.169C>A (p.Gln57Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261792C=CA1397873078CASRc.757C= (p.Gln253=)
c.274C= (p.Gln92=)
c.169C= (p.Gln57=)
3g.122261792C>GCA354151289CASRc.757C>G (p.Gln253Glu)
c.274C>G (p.Gln92Glu)
c.169C>G (p.Gln57Glu)
3g.122261792C>TCA354151290CASRc.757C>T (p.Gln253Ter)
c.274C>T (p.Gln92Ter)
c.169C>T (p.Gln57Ter)
 gnomAD v4
3g.122261793A=CA1397873080CASRc.758A= (p.Gln253=)
c.275A= (p.Gln92=)
c.170A= (p.Gln57=)
3g.122261793A>CCA354151291CASRc.758A>C (p.Gln253Pro)
c.275A>C (p.Gln92Pro)
c.170A>C (p.Gln57Pro)
3g.122261793A>GCA354151292CASRc.758A>G (p.Gln253Arg)
c.275A>G (p.Gln92Arg)
c.170A>G (p.Gln57Arg)
3g.122261793A>TCA2569530CASRc.758A>T (p.Gln253Leu)
c.275A>T (p.Gln92Leu)
c.170A>T (p.Gln57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261794G>ACA435424297CASRc.759G>A (p.Gln253=)
c.276G>A (p.Gln92=)
c.171G>A (p.Gln57=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261794G>CCA354151293CASRc.759G>C (p.Gln253His)
c.276G>C (p.Gln92His)
c.171G>C (p.Gln57His)
 dbSNP
3g.122261794G=CA1397873082CASRc.759G= (p.Gln253=)
c.276G= (p.Gln92=)
c.171G= (p.Gln57=)
3g.122261794G>TCA354151294CASRc.759G>T (p.Gln253His)
c.276G>T (p.Gln92His)
c.171G>T (p.Gln57His)
3g.122261795C>ACA354151296CASRc.760C>A (p.His254Asn)
c.277C>A (p.His93Asn)
c.172C>A (p.His58Asn)
3g.122261795C>GCA354151297CASRc.760C>G (p.His254Asp)
c.277C>G (p.His93Asp)
c.172C>G (p.His58Asp)

Number of alleles fetched