Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.146018528T>ACA342136555HJVc.830A>T (p.Gln277Leu)
c.152A>T (p.Gln51Leu)
c.491A>T (p.Gln164Leu)
1g.146018528T>CCA342136557HJVc.830A>G (p.Gln277Arg)
c.152A>G (p.Gln51Arg)
c.491A>G (p.Gln164Arg)
 dbSNP
1g.146018528T>GCA342136560HJVc.830A>C (p.Gln277Pro)
c.152A>C (p.Gln51Pro)
c.491A>C (p.Gln164Pro)
1g.146018528T=CA1198821000HJVc.830A= (p.Gln277=)
c.152A= (p.Gln51=)
c.491A= (p.Gln164=)
1g.146018529G>ACA342136566HJVc.829C>T (p.Gln277Ter)
c.151C>T (p.Gln51Ter)
c.490C>T (p.Gln164Ter)
 ClinVar dbSNP gnomAD v4
1g.146018529G>CCA342136569HJVc.829C>G (p.Gln277Glu)
c.151C>G (p.Gln51Glu)
c.490C>G (p.Gln164Glu)
1g.146018529G=CA1198821001HJVc.829C= (p.Gln277=)
c.151C= (p.Gln51=)
c.490C= (p.Gln164=)
1g.146018529G>TCA342136576HJVc.829C>A (p.Gln277Lys)
c.151C>A (p.Gln51Lys)
c.490C>A (p.Gln164Lys)
1g.146018530G>ACA342136579HJVc.828C>T (p.Ile276=)
c.150C>T (p.Ile50=)
c.489C>T (p.Ile163=)
 ClinVar dbSNP
1g.146018530G>CCA342136583HJVc.828C>G (p.Ile276Met)
c.150C>G (p.Ile50Met)
c.489C>G (p.Ile163Met)
1g.146018530G=CA1141772597HJVc.828C= (p.Ile276=)
c.150C= (p.Ile50=)
c.489C= (p.Ile163=)
1g.146018530G>TCA1053905HJVc.828C>A (p.Ile276=)
c.150C>A (p.Ile50=)
c.489C>A (p.Ile163=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018531A>CCA342136588HJVc.827T>G (p.Ile276Ser)
c.149T>G (p.Ile50Ser)
c.488T>G (p.Ile163Ser)
1g.146018531A>GCA342136594HJVc.827T>C (p.Ile276Thr)
c.149T>C (p.Ile50Thr)
c.488T>C (p.Ile163Thr)
1g.146018531A>TCA342136599HJVc.827T>A (p.Ile276Asn)
c.149T>A (p.Ile50Asn)
c.488T>A (p.Ile163Asn)
1g.146018532T>ACA342136613HJVc.826A>T (p.Ile276Phe)
c.148A>T (p.Ile50Phe)
c.487A>T (p.Ile163Phe)
 dbSNP
1g.146018532T>CCA342136626HJVc.826A>G (p.Ile276Val)
c.148A>G (p.Ile50Val)
c.487A>G (p.Ile163Val)
 dbSNP gnomAD v4
1g.146018532T>GCA342136625HJVc.826A>C (p.Ile276Leu)
c.148A>C (p.Ile50Leu)
c.487A>C (p.Ile163Leu)
1g.146018533C>ACA342136627HJVc.825G>T (p.Glu275Asp)
c.147G>T (p.Glu49Asp)
c.486G>T (p.Glu162Asp)
1g.146018533C=CA1198821002HJVc.825G= (p.Glu275=)
c.147G= (p.Glu49=)
c.486G= (p.Glu162=)
1g.146018533C>GCA342136628HJVc.825G>C (p.Glu275Asp)
c.147G>C (p.Glu49Asp)
c.486G>C (p.Glu162Asp)
1g.146018533C>TCA420603581HJVc.825G>A (p.Glu275=)
c.147G>A (p.Glu49=)
c.486G>A (p.Glu162=)
 dbSNP gnomAD v3 gnomAD v4
1g.146018534T>ACA342136630HJVc.824A>T (p.Glu275Val)
c.146A>T (p.Glu49Val)
c.485A>T (p.Glu162Val)
1g.146018534T>CCA342136633HJVc.824A>G (p.Glu275Gly)
c.146A>G (p.Glu49Gly)
c.485A>G (p.Glu162Gly)
1g.146018534T>GCA342136634HJVc.824A>C (p.Glu275Ala)
c.146A>C (p.Glu49Ala)
c.485A>C (p.Glu162Ala)
1g.146018535C>ACA342136635HJVc.823G>T (p.Glu275Ter)
c.145G>T (p.Glu49Ter)
c.484G>T (p.Glu162Ter)
1g.146018535C>GCA342136636HJVc.823G>C (p.Glu275Gln)
c.145G>C (p.Glu49Gln)
c.484G>C (p.Glu162Gln)
1g.146018535C>TCA342136637HJVc.823G>A (p.Glu275Lys)
c.145G>A (p.Glu49Lys)
c.484G>A (p.Glu162Lys)
1g.146018536C>ACA420603586HJVc.822G>T (p.Val274=)
c.144G>T (p.Val48=)
c.483G>T (p.Val161=)
1g.146018536C>GCA420603588HJVc.822G>C (p.Val274=)
c.144G>C (p.Val48=)
c.483G>C (p.Val161=)
1g.146018536C>TCA420603584HJVc.822G>A (p.Val274=)
c.144G>A (p.Val48=)
c.483G>A (p.Val161=)
1g.146018537A>CCA342136639HJVc.821T>G (p.Val274Gly)
c.143T>G (p.Val48Gly)
c.482T>G (p.Val161Gly)
1g.146018537A>GCA342136646HJVc.821T>C (p.Val274Ala)
c.143T>C (p.Val48Ala)
c.482T>C (p.Val161Ala)
1g.146018537A>TCA342136654HJVc.821T>A (p.Val274Glu)
c.143T>A (p.Val48Glu)
c.482T>A (p.Val161Glu)
 gnomAD v4
1g.146018538C>ACA29823848HJVc.820G>T (p.Val274Leu)
c.142G>T (p.Val48Leu)
c.481G>T (p.Val161Leu)
1g.146018538C=CA1142946702HJVc.820G= (p.Val274=)
c.142G= (p.Val48=)
c.481G= (p.Val161=)
1g.146018538C>GCA29823861HJVc.820G>C (p.Val274Leu)
c.142G>C (p.Val48Leu)
c.481G>C (p.Val161Leu)
1g.146018538C>TCA1053904HJVc.820G>A (p.Val274Met)
c.142G>A (p.Val48Met)
c.481G>A (p.Val161Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018539A=CA1198821003HJVc.819T= (p.His273=)
c.141T= (p.His47=)
c.480T= (p.His160=)
1g.146018539A>CCA29823866HJVc.819T>G (p.His273Gln)
c.141T>G (p.His47Gln)
c.480T>G (p.His160Gln)
1g.146018539A>GCA1053903HJVc.819T>C (p.His273=)
c.141T>C (p.His47=)
c.480T>C (p.His160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.146018539A>TCA29823868HJVc.819T>A (p.His273Gln)
c.141T>A (p.His47Gln)
c.480T>A (p.His160Gln)
1g.146018540T>ACA342136688HJVc.818A>T (p.His273Leu)
c.140A>T (p.His47Leu)
c.479A>T (p.His160Leu)
1g.146018540T>CCA342136689HJVc.818A>G (p.His273Arg)
c.140A>G (p.His47Arg)
c.479A>G (p.His160Arg)
1g.146018540T>GCA342136690HJVc.818A>C (p.His273Pro)
c.140A>C (p.His47Pro)
c.479A>C (p.His160Pro)
1g.146018541G>ACA1053902HJVc.817C>T (p.His273Tyr)
c.139C>T (p.His47Tyr)
c.478C>T (p.His160Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.146018541G>CCA29823871HJVc.817C>G (p.His273Asp)
c.139C>G (p.His47Asp)
c.478C>G (p.His160Asp)
1g.146018541G=CA1198821004HJVc.817C= (p.His273=)
c.139C= (p.His47=)
c.478C= (p.His160=)
1g.146018541G>TCA29823872HJVc.817C>A (p.His273Asn)
c.139C>A (p.His47Asn)
c.478C>A (p.His160Asn)
 COSMIC
1g.146018542G>ACA420603593HJVc.816C>T (p.Asn272=)
c.138C>T (p.Asn46=)
c.477C>T (p.Asn159=)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched