Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.87253420_87253422delCA2580616503CHMP2Bc.441_443del (p.Asp148del)
c.489_491del (p.Asp164del)
n.4105_4107del
n.4190_4192del
n.372_374del
c.318_320del (p.Asp107del)
c.351_353del (p.Asp118del)
 ClinVar gnomAD v4
3g.87253421G>ACA353697485CHMP2Bc.442G>A (p.Asp148Asn)
c.490G>A (p.Asp164Asn)
n.4106G>A
n.4191G>A
n.373G>A
c.319G>A (p.Asp107Asn)
c.352G>A (p.Asp118Asn)
3g.87253421G>CCA353697486CHMP2Bc.442G>C (p.Asp148His)
c.490G>C (p.Asp164His)
n.4106G>C
n.4191G>C
n.373G>C
c.319G>C (p.Asp107His)
c.352G>C (p.Asp118His)
3g.87253421G=CA1381558030CHMP2Bc.442G= (p.Asp148=)
c.490G= (p.Asp164=)
n.4106G=
n.4191G=
n.373G=
c.319G= (p.Asp107=)
c.352G= (p.Asp118=)
3g.87253421G>TCA224974CHMP2Bc.442G>T (p.Asp148Tyr)
c.490G>T (p.Asp164Tyr)
n.4106G>T
n.4191G>T
n.373G>T
c.319G>T (p.Asp107Tyr)
c.352G>T (p.Asp118Tyr)
 ClinVar dbSNP gnomAD v4
3g.87253421_87253423delinsGACCA1381558033CHMP2Bc.442_444delinsGAC (p.Asp148=)
c.490_492delinsGAC (p.Asp164=)
n.4106_4108delinsGAC
n.4191_4193delinsGAC
n.373_375delinsGAC
c.319_321delinsGAC (p.Asp107=)
c.352_354delinsGAC (p.Asp118=)
3g.87253422A>CCA353697487CHMP2Bc.443A>C (p.Asp148Ala)
c.491A>C (p.Asp164Ala)
n.4107A>C
n.4192A>C
n.374A>C
c.320A>C (p.Asp107Ala)
c.353A>C (p.Asp118Ala)
3g.87253422A>GCA353697488CHMP2Bc.443A>G (p.Asp148Gly)
c.491A>G (p.Asp164Gly)
n.4107A>G
n.4192A>G
n.374A>G
c.320A>G (p.Asp107Gly)
c.353A>G (p.Asp118Gly)
3g.87253422A>TCA353697489CHMP2Bc.443A>T (p.Asp148Val)
c.491A>T (p.Asp164Val)
n.4107A>T
n.4192A>T
n.374A>T
c.320A>T (p.Asp107Val)
c.353A>T (p.Asp118Val)
3g.87253423_87253424delCA79035750CHMP2Bc.444_445del (p.Ile149LeufsTer2)
c.492_493del (p.Ile165LeufsTer2)
n.4108_4109del
n.4193_4194del
n.375_376del
c.321_322del (p.Ile108LeufsTer2)
c.354_355del (p.Ile119LeufsTer2)
 dbSNP gnomAD v4
3g.87253423C>ACA353697490CHMP2Bc.444C>A (p.Asp148Glu)
c.492C>A (p.Asp164Glu)
n.4108C>A
n.4193C>A
n.375C>A
c.321C>A (p.Asp107Glu)
c.354C>A (p.Asp118Glu)
 gnomAD v4
3g.87253423C>GCA353697491CHMP2Bc.444C>G (p.Asp148Glu)
c.492C>G (p.Asp164Glu)
n.4108C>G
n.4193C>G
n.375C>G
c.321C>G (p.Asp107Glu)
c.354C>G (p.Asp118Glu)
3g.87253423C>TCA434576669CHMP2Bc.444C>T (p.Asp148=)
c.492C>T (p.Asp164=)
n.4108C>T
n.4193C>T
n.375C>T
c.321C>T (p.Asp107=)
c.354C>T (p.Asp118=)
3g.87253424A=CA1381558036CHMP2Bc.445A= (p.Ile149=)
c.493A= (p.Ile165=)
n.4109A=
n.4194A=
n.376A=
c.322A= (p.Ile108=)
c.355A= (p.Ile119=)
3g.87253424A>CCA353697492CHMP2Bc.445A>C (p.Ile149Leu)
c.493A>C (p.Ile165Leu)
n.4109A>C
n.4194A>C
n.376A>C
c.322A>C (p.Ile108Leu)
c.355A>C (p.Ile119Leu)
 gnomAD v4
3g.87253424A>GCA353697494CHMP2Bc.445A>G (p.Ile149Val)
c.493A>G (p.Ile165Val)
n.4109A>G
n.4194A>G
n.376A>G
c.322A>G (p.Ile108Val)
c.355A>G (p.Ile119Val)
3g.87253424A>TCA353697493CHMP2Bc.445A>T (p.Ile149Phe)
c.493A>T (p.Ile165Phe)
n.4109A>T
n.4194A>T
n.376A>T
c.322A>T (p.Ile108Phe)
c.355A>T (p.Ile119Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.87253425T>ACA353697495CHMP2Bc.446T>A (p.Ile149Asn)
c.494T>A (p.Ile165Asn)
n.4110T>A
n.4195T>A
n.377T>A
c.323T>A (p.Ile108Asn)
c.356T>A (p.Ile119Asn)
3g.87253425T>CCA353697496CHMP2Bc.446T>C (p.Ile149Thr)
c.494T>C (p.Ile165Thr)
n.4110T>C
n.4195T>C
n.377T>C
c.323T>C (p.Ile108Thr)
c.356T>C (p.Ile119Thr)
3g.87253425T>GCA353697497CHMP2Bc.446T>G (p.Ile149Ser)
c.494T>G (p.Ile165Ser)
n.4110T>G
n.4195T>G
n.377T>G
c.323T>G (p.Ile108Ser)
c.356T>G (p.Ile119Ser)
3g.87253426C>ACA434576670CHMP2Bc.447C>A (p.Ile149=)
c.495C>A (p.Ile165=)
n.4111C>A
n.4196C>A
n.378C>A
c.324C>A (p.Ile108=)
c.357C>A (p.Ile119=)
3g.87253426C>GCA353697498CHMP2Bc.447C>G (p.Ile149Met)
c.495C>G (p.Ile165Met)
n.4111C>G
n.4196C>G
n.378C>G
c.324C>G (p.Ile108Met)
c.357C>G (p.Ile119Met)
3g.87253426C>TCA434576671CHMP2Bc.447C>T (p.Ile149=)
c.495C>T (p.Ile165=)
n.4111C>T
n.4196C>T
n.378C>T
c.324C>T (p.Ile108=)
c.357C>T (p.Ile119=)
 gnomAD v4
3g.87253427T>ACA353697499CHMP2Bc.448T>A (p.Phe150Ile)
c.496T>A (p.Phe166Ile)
n.4112T>A
n.4197T>A
n.379T>A
c.325T>A (p.Phe109Ile)
c.358T>A (p.Phe120Ile)
3g.87253427T>CCA353697500CHMP2Bc.448T>C (p.Phe150Leu)
c.496T>C (p.Phe166Leu)
n.4112T>C
n.4197T>C
n.379T>C
c.325T>C (p.Phe109Leu)
c.358T>C (p.Phe120Leu)
 gnomAD v4
3g.87253427T>GCA353697501CHMP2Bc.448T>G (p.Phe150Val)
c.496T>G (p.Phe166Val)
n.4112T>G
n.4197T>G
n.379T>G
c.325T>G (p.Phe109Val)
c.358T>G (p.Phe120Val)
3g.87253428T>ACA353697502CHMP2Bc.449T>A (p.Phe150Tyr)
c.497T>A (p.Phe166Tyr)
n.4113T>A
n.4198T>A
n.380T>A
c.326T>A (p.Phe109Tyr)
c.359T>A (p.Phe120Tyr)
3g.87253428T>CCA353697503CHMP2Bc.449T>C (p.Phe150Ser)
c.497T>C (p.Phe166Ser)
n.4113T>C
n.4198T>C
n.380T>C
c.326T>C (p.Phe109Ser)
c.359T>C (p.Phe120Ser)
3g.87253428T>GCA353697504CHMP2Bc.449T>G (p.Phe150Cys)
c.497T>G (p.Phe166Cys)
n.4113T>G
n.4198T>G
n.380T>G
c.326T>G (p.Phe109Cys)
c.359T>G (p.Phe120Cys)
3g.87253429T>ACA353697505CHMP2Bc.450T>A (p.Phe150Leu)
c.498T>A (p.Phe166Leu)
n.4114T>A
n.4199T>A
n.381T>A
c.327T>A (p.Phe109Leu)
c.360T>A (p.Phe120Leu)
3g.87253429T>CCA434576672CHMP2Bc.450T>C (p.Phe150=)
c.498T>C (p.Phe166=)
n.4114T>C
n.4199T>C
n.381T>C
c.327T>C (p.Phe109=)
c.360T>C (p.Phe120=)
3g.87253429T>GCA353697506CHMP2Bc.450T>G (p.Phe150Leu)
c.498T>G (p.Phe166Leu)
n.4114T>G
n.4199T>G
n.381T>G
c.327T>G (p.Phe109Leu)
c.360T>G (p.Phe120Leu)
3g.87253430G>ACA353697507CHMP2Bc.451G>A (p.Asp151Asn)
c.499G>A (p.Asp167Asn)
n.4115G>A
n.4200G>A
n.382G>A
c.328G>A (p.Asp110Asn)
c.361G>A (p.Asp121Asn)
3g.87253430G>CCA353697508CHMP2Bc.451G>C (p.Asp151His)
c.499G>C (p.Asp167His)
n.4115G>C
n.4200G>C
n.382G>C
c.328G>C (p.Asp110His)
c.361G>C (p.Asp121His)
3g.87253430G>TCA353697509CHMP2Bc.451G>T (p.Asp151Tyr)
c.499G>T (p.Asp167Tyr)
n.4115G>T
n.4200G>T
n.382G>T
c.328G>T (p.Asp110Tyr)
c.361G>T (p.Asp121Tyr)
3g.87253431A>CCA353697510CHMP2Bc.452A>C (p.Asp151Ala)
c.500A>C (p.Asp167Ala)
n.4116A>C
n.4201A>C
n.383A>C
c.329A>C (p.Asp110Ala)
c.362A>C (p.Asp121Ala)
3g.87253431A>GCA353697511CHMP2Bc.452A>G (p.Asp151Gly)
c.500A>G (p.Asp167Gly)
n.4116A>G
n.4201A>G
n.383A>G
c.329A>G (p.Asp110Gly)
c.362A>G (p.Asp121Gly)
 gnomAD v4
3g.87253431A>TCA353697512CHMP2Bc.452A>T (p.Asp151Val)
c.500A>T (p.Asp167Val)
n.4116A>T
n.4201A>T
n.383A>T
c.329A>T (p.Asp110Val)
c.362A>T (p.Asp121Val)
3g.87253432C>ACA2501001CHMP2Bc.453C>A (p.Asp151Glu)
c.501C>A (p.Asp167Glu)
n.4117C>A
n.4202C>A
n.384C>A
c.330C>A (p.Asp110Glu)
c.363C>A (p.Asp121Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.87253432C=CA1381558038CHMP2Bc.453C= (p.Asp151=)
c.501C= (p.Asp167=)
n.4117C=
n.4202C=
n.384C=
c.330C= (p.Asp110=)
c.363C= (p.Asp121=)
3g.87253432C>GCA353697513CHMP2Bc.453C>G (p.Asp151Glu)
c.501C>G (p.Asp167Glu)
n.4117C>G
n.4202C>G
n.384C>G
c.330C>G (p.Asp110Glu)
c.363C>G (p.Asp121Glu)
3g.87253432C>TCA2501000CHMP2Bc.453C>T (p.Asp151=)
c.501C>T (p.Asp167=)
n.4117C>T
n.4202C>T
n.384C>T
c.330C>T (p.Asp110=)
c.363C>T (p.Asp121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.87253433G>ACA353697514CHMP2Bc.454G>A (p.Gly152Ser)
c.502G>A (p.Gly168Ser)
n.4118G>A
n.4203G>A
n.385G>A
c.331G>A (p.Gly111Ser)
c.364G>A (p.Gly122Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.87253433G>CCA2501003CHMP2Bc.454G>C (p.Gly152Arg)
c.502G>C (p.Gly168Arg)
n.4118G>C
n.4203G>C
n.385G>C
c.331G>C (p.Gly111Arg)
c.364G>C (p.Gly122Arg)
 dbSNP ExAC gnomAD v2
3g.87253433G=CA1381558041CHMP2Bc.454G= (p.Gly152=)
c.502G= (p.Gly168=)
n.4118G=
n.4203G=
n.385G=
c.331G= (p.Gly111=)
c.364G= (p.Gly122=)
3g.87253433G>TCA2501002CHMP2Bc.454G>T (p.Gly152Cys)
c.502G>T (p.Gly168Cys)
n.4118G>T
n.4203G>T
n.385G>T
c.331G>T (p.Gly111Cys)
c.364G>T (p.Gly122Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.87253434G>ACA353697517CHMP2Bc.455G>A (p.Gly152Asp)
c.503G>A (p.Gly168Asp)
n.4119G>A
n.4204G>A
n.386G>A
c.332G>A (p.Gly111Asp)
c.365G>A (p.Gly122Asp)
 COSMIC
3g.87253434G>CCA353697515CHMP2Bc.455G>C (p.Gly152Ala)
c.503G>C (p.Gly168Ala)
n.4119G>C
n.4204G>C
n.386G>C
c.332G>C (p.Gly111Ala)
c.365G>C (p.Gly122Ala)
3g.87253434G>TCA353697516CHMP2Bc.455G>T (p.Gly152Val)
c.503G>T (p.Gly168Val)
n.4119G>T
n.4204G>T
n.386G>T
c.332G>T (p.Gly111Val)
c.365G>T (p.Gly122Val)
3g.87253435T>ACA434576674CHMP2Bc.456T>A (p.Gly152=)
c.504T>A (p.Gly168=)
n.4120T>A
n.4205T>A
n.387T>A
c.333T>A (p.Gly111=)
c.366T>A (p.Gly122=)

Number of alleles fetched