Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99862305T>ACA419095442AGLc.342T>A (p.Arg114=)
n.553T>A
c.294T>A (p.Arg98=)
c.291T>A (p.Arg97=)
1g.99862305T>CCA419095445AGLc.342T>C (p.Arg114=)
n.553T>C
c.294T>C (p.Arg98=)
c.291T>C (p.Arg97=)
1g.99862305T>GCA419095448AGLc.342T>G (p.Arg114=)
n.553T>G
c.294T>G (p.Arg98=)
c.291T>G (p.Arg97=)
1g.99862306G>ACA341331077AGLc.343G>A (p.Val115Ile)
n.554G>A
c.295G>A (p.Val99Ile)
c.292G>A (p.Val98Ile)
1g.99862306G>CCA341331079AGLc.343G>C (p.Val115Leu)
n.554G>C
c.295G>C (p.Val99Leu)
c.292G>C (p.Val98Leu)
1g.99862306G>TCA341331096AGLc.343G>T (p.Val115Phe)
n.554G>T
c.295G>T (p.Val99Phe)
c.292G>T (p.Val98Phe)
 gnomAD v4
1g.99862306_99862332delinsGTTGGTGCTGATAATCATGTGCTACCCCA1183924345AGLc.343_369delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val115=)
n.554_580delinsGTTGGTGCTGATAATCATGTGCTACCC
c.295_321delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val99=)
c.292_318delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val98=)
1g.99862307T>ACA341331123AGLc.344T>A (p.Val115Asp)
n.555T>A
c.296T>A (p.Val99Asp)
c.293T>A (p.Val98Asp)
 gnomAD v4
1g.99862307T>CCA966141AGLc.344T>C (p.Val115Ala)
n.555T>C
c.296T>C (p.Val99Ala)
c.293T>C (p.Val98Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862307T>GCA341331124AGLc.344T>G (p.Val115Gly)
n.555T>G
c.296T>G (p.Val99Gly)
c.293T>G (p.Val98Gly)
1g.99862307T=CA1147339744AGLc.344T= (p.Val115=)
n.555T=
c.296T= (p.Val99=)
c.293T= (p.Val98=)
1g.99862311_99862336delCA16040824AGLc.348_373del (p.Ala117LeufsTer10)
n.559_584del
c.300_325del (p.Ala101LeufsTer10)
c.297_322del (p.Ala100LeufsTer10)
 ClinVar dbSNP
1g.99862308T>ACA419095480AGLc.345T>A (p.Val115=)
n.556T>A
c.297T>A (p.Val99=)
c.294T>A (p.Val98=)
1g.99862308T>CCA419095474AGLc.345T>C (p.Val115=)
n.556T>C
c.297T>C (p.Val99=)
c.294T>C (p.Val98=)
1g.99862308T>GCA419095479AGLc.345T>G (p.Val115=)
n.556T>G
c.297T>G (p.Val99=)
c.294T>G (p.Val98=)
1g.99862309G>ACA341331129AGLc.346G>A (p.Gly116Ser)
n.557G>A
c.298G>A (p.Gly100Ser)
c.295G>A (p.Gly99Ser)
1g.99862309G>CCA341331136AGLc.346G>C (p.Gly116Arg)
n.557G>C
c.298G>C (p.Gly100Arg)
c.295G>C (p.Gly99Arg)
 dbSNP
1g.99862309G>TCA341331149AGLc.346G>T (p.Gly116Cys)
n.557G>T
c.298G>T (p.Gly100Cys)
c.295G>T (p.Gly99Cys)
1g.99862310G>ACA966142AGLc.347G>A (p.Gly116Asp)
n.558G>A
c.299G>A (p.Gly100Asp)
c.296G>A (p.Gly99Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862310G>CCA341331176AGLc.347G>C (p.Gly116Ala)
n.558G>C
c.299G>C (p.Gly100Ala)
c.296G>C (p.Gly99Ala)
 gnomAD v4
1g.99862310G=CA1183924356AGLc.347G= (p.Gly116=)
n.558G=
c.299G= (p.Gly100=)
c.296G= (p.Gly99=)
1g.99862310G>TCA341331192AGLc.347G>T (p.Gly116Val)
n.558G>T
c.299G>T (p.Gly100Val)
c.296G>T (p.Gly99Val)
 gnomAD v4
1g.99862311T>ACA419095492AGLc.348T>A (p.Gly116=)
n.559T>A
c.300T>A (p.Gly100=)
c.297T>A (p.Gly99=)
1g.99862311T>CCA419095500AGLc.348T>C (p.Gly116=)
n.559T>C
c.300T>C (p.Gly100=)
c.297T>C (p.Gly99=)
1g.99862311T>GCA419095502AGLc.348T>G (p.Gly116=)
n.559T>G
c.300T>G (p.Gly100=)
c.297T>G (p.Gly99=)
1g.99862312G>ACA341331197AGLc.349G>A (p.Ala117Thr)
n.560G>A
c.301G>A (p.Ala101Thr)
c.298G>A (p.Ala100Thr)
1g.99862312G>CCA341331198AGLc.349G>C (p.Ala117Pro)
n.560G>C
c.301G>C (p.Ala101Pro)
c.298G>C (p.Ala100Pro)
1g.99862312G>TCA341331199AGLc.349G>T (p.Ala117Ser)
n.560G>T
c.301G>T (p.Ala101Ser)
c.298G>T (p.Ala100Ser)
1g.99862313C>ACA341331205AGLc.350C>A (p.Ala117Asp)
n.561C>A
c.302C>A (p.Ala101Asp)
c.299C>A (p.Ala100Asp)
 COSMIC COSMIC
1g.99862313C>GCA341331211AGLc.350C>G (p.Ala117Gly)
n.561C>G
c.302C>G (p.Ala101Gly)
c.299C>G (p.Ala100Gly)
1g.99862313C>TCA341331203AGLc.350C>T (p.Ala117Val)
n.561C>T
c.302C>T (p.Ala101Val)
c.299C>T (p.Ala100Val)
1g.99862314T>ACA419095512AGLc.351T>A (p.Ala117=)
n.562T>A
c.303T>A (p.Ala101=)
c.300T>A (p.Ala100=)
1g.99862314T>CCA419095513AGLc.351T>C (p.Ala117=)
n.562T>C
c.303T>C (p.Ala101=)
c.300T>C (p.Ala100=)
 ClinVar
1g.99862314T>GCA419095516AGLc.351T>G (p.Ala117=)
n.562T>G
c.303T>G (p.Ala101=)
c.300T>G (p.Ala100=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862314T=CA1183924360AGLc.351T= (p.Ala117=)
n.562T=
c.303T= (p.Ala101=)
c.300T= (p.Ala100=)
1g.99862315G>ACA341331212AGLc.352G>A (p.Asp118Asn)
n.563G>A
c.304G>A (p.Asp102Asn)
c.301G>A (p.Asp101Asn)
 gnomAD v4
1g.99862315G>CCA341331215AGLc.352G>C (p.Asp118His)
n.563G>C
c.304G>C (p.Asp102His)
c.301G>C (p.Asp101His)
 dbSNP gnomAD v2
1g.99862315G=CA1183924364AGLc.352G= (p.Asp118=)
n.563G=
c.304G= (p.Asp102=)
c.301G= (p.Asp101=)
1g.99862315G>TCA341331223AGLc.352G>T (p.Asp118Tyr)
n.563G>T
c.304G>T (p.Asp102Tyr)
c.301G>T (p.Asp101Tyr)
1g.99862316A>CCA341331230AGLc.353A>C (p.Asp118Ala)
n.564A>C
c.305A>C (p.Asp102Ala)
c.302A>C (p.Asp101Ala)
1g.99862316A>GCA341331242AGLc.353A>G (p.Asp118Gly)
n.564A>G
c.305A>G (p.Asp102Gly)
c.302A>G (p.Asp101Gly)
1g.99862316A>TCA341331247AGLc.353A>T (p.Asp118Val)
n.564A>T
c.305A>T (p.Asp102Val)
c.302A>T (p.Asp101Val)
1g.99862317T>ACA341331249AGLc.354T>A (p.Asp118Glu)
n.565T>A
c.306T>A (p.Asp102Glu)
c.303T>A (p.Asp101Glu)
1g.99862317T>CCA419095535AGLc.354T>C (p.Asp118=)
n.565T>C
c.306T>C (p.Asp102=)
c.303T>C (p.Asp101=)
1g.99862317T>GCA341331248AGLc.354T>G (p.Asp118Glu)
n.565T>G
c.306T>G (p.Asp102Glu)
c.303T>G (p.Asp101Glu)
1g.99862318A>CCA341331253AGLc.355A>C (p.Asn119His)
n.566A>C
c.307A>C (p.Asn103His)
c.304A>C (p.Asn102His)
1g.99862318A>GCA341331265AGLc.355A>G (p.Asn119Asp)
n.566A>G
c.307A>G (p.Asn103Asp)
c.304A>G (p.Asn102Asp)
1g.99862318A>TCA341331271AGLc.355A>T (p.Asn119Tyr)
n.566A>T
c.307A>T (p.Asn103Tyr)
c.304A>T (p.Asn102Tyr)
1g.99862319A=CA1183924370AGLc.356A= (p.Asn119=)
n.567A=
c.308A= (p.Asn103=)
c.305A= (p.Asn102=)
1g.99862319A>CCA341331277AGLc.356A>C (p.Asn119Thr)
n.567A>C
c.308A>C (p.Asn103Thr)
c.305A>C (p.Asn102Thr)

Number of alleles fetched