Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135798028_135798038delinsCCGAGACTTGTCA1290826505LCTc.4967_4976+1delinsACAAGTCTCGG
c.3060_3069+1delinsACAAGTCTCGG
2g.135798029_135798038delCA1290826506LCTc.4967_4976del (p.Asn1656SerfsTer?)
c.3060_3069del (n.3060_3069del)
 ClinVar dbSNP gnomAD v4
2g.135798038T>ACA348590835LCTc.4967A>T (p.Asn1656Ile)
c.3060A>T (n.3060A>T)
2g.135798038T>CCA348590836LCTc.4967A>G (p.Asn1656Ser)
c.3060A>G (n.3060A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.135798038T>GCA348590837LCTc.4967A>C (p.Asn1656Thr)
c.3060A>C (n.3060A>C)
2g.135798038T=CA1290826511LCTc.4967A= (p.Asn1656=)
c.3060A= (n.3060A=)
2g.135798039T>ACA348590838LCTc.4966A>T (p.Asn1656Tyr)
c.3059A>T (n.3059A>T)
2g.135798039T>CCA348590839LCTc.4966A>G (p.Asn1656Asp)
c.3059A>G (n.3059A>G)
2g.135798039T>GCA348590840LCTc.4966A>C (p.Asn1656His)
c.3059A>C (n.3059A>C)
2g.135798040G>ACA429086145LCTc.4965C>T (p.Leu1655=)
c.3058C>T (n.3058C>T)
 gnomAD v4
2g.135798040G>CCA429086146LCTc.4965C>G (p.Leu1655=)
c.3058C>G (n.3058C>G)
2g.135798040G>TCA429086148LCTc.4965C>A (p.Leu1655=)
c.3058C>A (n.3058C>A)
2g.135798041A>CCA348590841LCTc.4964T>G (p.Leu1655Arg)
c.3057T>G (n.3057T>G)
2g.135798041A>GCA348590842LCTc.4964T>C (p.Leu1655Pro)
c.3057T>C (n.3057T>C)
2g.135798041A>TCA348590843LCTc.4964T>A (p.Leu1655His)
c.3057T>A (n.3057T>A)
 gnomAD v4
2g.135798041_135798042delinsAGCA1290826512LCTc.4963_4964delinsCT (p.Leu1655=)
c.3056_3057delinsCT (n.3056_3057delinsCT)
2g.135798042G>ACA56602607LCTc.4963C>T (p.Leu1655Phe)
c.3056C>T (n.3056C>T)
 dbSNP
2g.135798042G>CCA348590844LCTc.4963C>G (p.Leu1655Val)
c.3056C>G (n.3056C>G)
2g.135798042G=CA1290826513LCTc.4963C= (p.Leu1655=)
c.3056C= (n.3056C=)
2g.135798042G>TCA348590845LCTc.4963C>A (p.Leu1655Ile)
c.3056C>A (n.3056C>A)
 gnomAD v4
2g.135798043delCA56602602LCTc.4963del (p.Leu1655SerfsTer?)
c.3056del (n.3056del)
 dbSNP
2g.135798043G>ACA429086151LCTc.4962C>T (p.Gly1654=)
c.3055C>T (n.3055C>T)
2g.135798043G>CCA429086150LCTc.4962C>G (p.Gly1654=)
c.3055C>G (n.3055C>G)
2g.135798043G=CA1290826514LCTc.4962C= (p.Gly1654=)
c.3055C= (n.3055C=)
2g.135798043G>TCA56602628LCTc.4962C>A (p.Gly1654=)
c.3055C>A (n.3055C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798044C>ACA348590848LCTc.4961G>T (p.Gly1654Val)
c.3054G>T (n.3054G>T)
2g.135798044C>GCA348590846LCTc.4961G>C (p.Gly1654Ala)
c.3054G>C (n.3054G>C)
2g.135798044C>TCA348590847LCTc.4961G>A (p.Gly1654Asp)
c.3054G>A (n.3054G>A)
 gnomAD v4
2g.135798045C>ACA348590849LCTc.4960G>T (p.Gly1654Cys)
c.3053G>T (n.3053G>T)
2g.135798045C=CA1290826515LCTc.4960G= (p.Gly1654=)
c.3053G= (n.3053G=)
2g.135798045C>GCA348590850LCTc.4960G>C (p.Gly1654Arg)
c.3053G>C (n.3053G>C)
2g.135798045C>TCA348590851LCTc.4960G>A (p.Gly1654Ser)
c.3053G>A (n.3053G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.135798046T>ACA429086155LCTc.4959A>T (p.Ala1653=)
c.3052A>T (n.3052A>T)
2g.135798046T>CCA429086154LCTc.4959A>G (p.Ala1653=)
c.3052A>G (n.3052A>G)
2g.135798046T>GCA429086153LCTc.4959A>C (p.Ala1653=)
c.3052A>C (n.3052A>C)
2g.135798047G>ACA348590852LCTc.4958C>T (p.Ala1653Val)
c.3051C>T (n.3051C>T)
2g.135798047G>CCA348590853LCTc.4958C>G (p.Ala1653Gly)
c.3051C>G (n.3051C>G)
2g.135798047G>TCA348590854LCTc.4958C>A (p.Ala1653Glu)
c.3051C>A (n.3051C>A)
2g.135798048C>ACA348590855LCTc.4957G>T (p.Ala1653Ser)
c.3050G>T (n.3050G>T)
2g.135798048C>GCA348590856LCTc.4957G>C (p.Ala1653Pro)
c.3050G>C (n.3050G>C)
2g.135798048C>TCA348590857LCTc.4957G>A (p.Ala1653Thr)
c.3050G>A (n.3050G>A)
2g.135798049A>CCA429086157LCTc.4956T>G (p.Ala1652=)
c.3049T>G (n.3049T>G)
2g.135798049A>GCA429086159LCTc.4956T>C (p.Ala1652=)
c.3049T>C (n.3049T>C)
2g.135798049A>TCA429086158LCTc.4956T>A (p.Ala1652=)
c.3049T>A (n.3049T>A)
2g.135798050G>ACA348590858LCTc.4955C>T (p.Ala1652Val)
c.3048C>T (n.3048C>T)
 gnomAD v4
2g.135798050G>CCA348590859LCTc.4955C>G (p.Ala1652Gly)
c.3048C>G (n.3048C>G)
2g.135798050G>TCA348590860LCTc.4955C>A (p.Ala1652Asp)
c.3048C>A (n.3048C>A)
 gnomAD v4
2g.135798051C>ACA348590863LCTc.4954G>T (p.Ala1652Ser)
c.3047G>T (n.3047G>T)
2g.135798051C>GCA348590862LCTc.4954G>C (p.Ala1652Pro)
c.3047G>C (n.3047G>C)
 gnomAD v4
2g.135798051C>TCA348590861LCTc.4954G>A (p.Ala1652Thr)
c.3047G>A (n.3047G>A)
 gnomAD v4

Number of alleles fetched