Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
3g.87253435T>CCA434576675CHMP2Bc.456T>C (p.Gly152=)
c.504T>C (p.Gly168=)
n.4120T>C
n.4205T>C
n.387T>C
c.333T>C (p.Gly111=)
c.366T>C (p.Gly122=)
3g.87253435T>GCA434576676CHMP2Bc.456T>G (p.Gly152=)
c.504T>G (p.Gly168=)
n.4120T>G
n.4205T>G
n.387T>G
c.333T>G (p.Gly111=)
c.366T>G (p.Gly122=)
3g.87253436T>ACA353697518CHMP2Bc.457T>A (p.Ser153Thr)
c.505T>A (p.Ser169Thr)
n.4121T>A
n.4206T>A
n.388T>A
c.334T>A (p.Ser112Thr)
c.367T>A (p.Ser123Thr)
3g.87253436T>CCA353697519CHMP2Bc.457T>C (p.Ser153Pro)
c.505T>C (p.Ser169Pro)
n.4121T>C
n.4206T>C
n.388T>C
c.334T>C (p.Ser112Pro)
c.367T>C (p.Ser123Pro)
3g.87253436T>GCA353697520CHMP2Bc.457T>G (p.Ser153Ala)
c.505T>G (p.Ser169Ala)
n.4121T>G
n.4206T>G
n.388T>G
c.334T>G (p.Ser112Ala)
c.367T>G (p.Ser123Ala)
3g.87253437C>ACA353697521CHMP2Bc.458C>A (p.Ser153Tyr)
c.506C>A (p.Ser169Tyr)
n.4122C>A
n.4207C>A
n.389C>A
c.335C>A (p.Ser112Tyr)
c.368C>A (p.Ser123Tyr)
3g.87253437C>GCA353697522CHMP2Bc.458C>G (p.Ser153Cys)
c.506C>G (p.Ser169Cys)
n.4122C>G
n.4207C>G
n.389C>G
c.335C>G (p.Ser112Cys)
c.368C>G (p.Ser123Cys)
3g.87253437C>TCA353697523CHMP2Bc.458C>T (p.Ser153Phe)
c.506C>T (p.Ser169Phe)
n.4122C>T
n.4207C>T
n.389C>T
c.335C>T (p.Ser112Phe)
c.368C>T (p.Ser123Phe)
3g.87253438T>ACA434576677CHMP2Bc.459T>A (p.Ser153=)
c.507T>A (p.Ser169=)
n.4123T>A
n.4208T>A
n.390T>A
c.336T>A (p.Ser112=)
c.369T>A (p.Ser123=)
3g.87253438T>CCA434576678CHMP2Bc.459T>C (p.Ser153=)
c.507T>C (p.Ser169=)
n.4123T>C
n.4208T>C
n.390T>C
c.336T>C (p.Ser112=)
c.369T>C (p.Ser123=)
 gnomAD v4
3g.87253438T>GCA434576679CHMP2Bc.459T>G (p.Ser153=)
c.507T>G (p.Ser169=)
n.4123T>G
n.4208T>G
n.390T>G
c.336T>G (p.Ser112=)
c.369T>G (p.Ser123=)
3g.87253439G>ACA353697524CHMP2Bc.460G>A (p.Asp154Asn)
c.508G>A (p.Asp170Asn)
n.4124G>A
n.4209G>A
n.391G>A
c.337G>A (p.Asp113Asn)
c.370G>A (p.Asp124Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.87253439G>CCA353697525CHMP2Bc.460G>C (p.Asp154His)
c.508G>C (p.Asp170His)
n.4124G>C
n.4209G>C
n.391G>C
c.337G>C (p.Asp113His)
c.370G>C (p.Asp124His)
3g.87253439G=CA1381558044CHMP2Bc.460G= (p.Asp154=)
c.508G= (p.Asp170=)
n.4124G=
n.4209G=
n.391G=
c.337G= (p.Asp113=)
c.370G= (p.Asp124=)
3g.87253439G>TCA353697526CHMP2Bc.460G>T (p.Asp154Tyr)
c.508G>T (p.Asp170Tyr)
n.4124G>T
n.4209G>T
n.391G>T
c.337G>T (p.Asp113Tyr)
c.370G>T (p.Asp124Tyr)
3g.87253440A>CCA353697527CHMP2Bc.461A>C (p.Asp154Ala)
c.509A>C (p.Asp170Ala)
n.4125A>C
n.4210A>C
n.392A>C
c.338A>C (p.Asp113Ala)
c.371A>C (p.Asp124Ala)
 gnomAD v4
3g.87253440A>GCA353697528CHMP2Bc.461A>G (p.Asp154Gly)
c.509A>G (p.Asp170Gly)
n.4125A>G
n.4210A>G
n.392A>G
c.338A>G (p.Asp113Gly)
c.371A>G (p.Asp124Gly)
3g.87253440A>TCA353697529CHMP2Bc.461A>T (p.Asp154Val)
c.509A>T (p.Asp170Val)
n.4125A>T
n.4210A>T
n.392A>T
c.338A>T (p.Asp113Val)
c.371A>T (p.Asp124Val)
3g.87253441T>ACA353697531CHMP2Bc.462T>A (p.Asp154Glu)
c.510T>A (p.Asp170Glu)
n.4126T>A
n.4211T>A
n.393T>A
c.339T>A (p.Asp113Glu)
c.372T>A (p.Asp124Glu)
3g.87253441T>CCA434576680CHMP2Bc.462T>C (p.Asp154=)
c.510T>C (p.Asp170=)
n.4126T>C
n.4211T>C
n.393T>C
c.339T>C (p.Asp113=)
c.372T>C (p.Asp124=)

Number of alleles fetched