Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33575339C>ACA449868020BAK1,GGNBP1c.309G>T (p.Thr103=)
c.249G>T (p.Thr83=)
n.249-12C>A
c.132G>T (p.Thr44=)
6g.33575339C=CA1620073682BAK1,GGNBP1c.309G= (p.Thr103=)
c.249G= (p.Thr83=)
n.249-12C=
c.132G= (p.Thr44=)
6g.33575339C>GCA449868021BAK1,GGNBP1c.309G>C (p.Thr103=)
c.249G>C (p.Thr83=)
n.249-12C>G
c.132G>C (p.Thr44=)
6g.33575339C>TCA3759524BAK1,GGNBP1c.309G>A (p.Thr103=)
c.249G>A (p.Thr83=)
n.249-12C>T
c.132G>A (p.Thr44=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33575340_33575348dupCA2678285559BAK1,GGNBP1c.301_309dup (p.Thr103_Ala104insGlnProThr)
c.241_249dup (p.Thr83_Ala84insGlnProThr)
n.249-11_249-3dup
c.124_132dup (p.Thr44_Ala45insGlnProThr)
 gnomAD v4
6g.33575340G>ACA3759525BAK1,GGNBP1c.308C>T (p.Thr103Met)
c.248C>T (p.Thr83Met)
n.249-11G>A
c.131C>T (p.Thr44Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33575340G>CCA363652560BAK1,GGNBP1c.308C>G (p.Thr103Arg)
c.248C>G (p.Thr83Arg)
n.249-11G>C
c.131C>G (p.Thr44Arg)
6g.33575340G=CA1620073686BAK1,GGNBP1c.308C= (p.Thr103=)
c.248C= (p.Thr83=)
n.249-11G=
c.131C= (p.Thr44=)
6g.33575340G>TCA363652556BAK1,GGNBP1c.308C>A (p.Thr103Lys)
c.248C>A (p.Thr83Lys)
n.249-11G>T
c.131C>A (p.Thr44Lys)
 gnomAD v4
6g.33575341T>ACA363652575BAK1,GGNBP1c.307A>T (p.Thr103Ser)
c.247A>T (p.Thr83Ser)
n.249-10T>A
c.130A>T (p.Thr44Ser)
6g.33575341T>CCA137113267BAK1,GGNBP1c.307A>G (p.Thr103Ala)
c.247A>G (p.Thr83Ala)
n.249-10T>C
c.130A>G (p.Thr44Ala)
 dbSNP
6g.33575341T>GCA363652577BAK1,GGNBP1c.307A>C (p.Thr103Pro)
c.247A>C (p.Thr83Pro)
n.249-10T>G
c.130A>C (p.Thr44Pro)
 gnomAD v4
6g.33575341T=CA1620073691BAK1,GGNBP1c.307A= (p.Thr103=)
c.247A= (p.Thr83=)
n.249-10T=
c.130A= (p.Thr44=)
6g.33575342G>ACA449868023BAK1,GGNBP1c.306C>T (p.Pro102=)
c.246C>T (p.Pro82=)
n.249-9G>A
c.129C>T (p.Pro43=)
6g.33575342G>CCA449868024BAK1,GGNBP1c.306C>G (p.Pro102=)
c.246C>G (p.Pro82=)
n.249-9G>C
c.129C>G (p.Pro43=)
6g.33575342G>TCA449868025BAK1,GGNBP1c.306C>A (p.Pro102=)
c.246C>A (p.Pro82=)
n.249-9G>T
c.129C>A (p.Pro43=)
6g.33575343G>ACA3759526BAK1,GGNBP1c.305C>T (p.Pro102Leu)
c.245C>T (p.Pro82Leu)
n.249-8G>A
c.128C>T (p.Pro43Leu)
 dbSNP ExAC gnomAD v2
6g.33575343G>CCA363652579BAK1,GGNBP1c.305C>G (p.Pro102Arg)
c.245C>G (p.Pro82Arg)
n.249-8G>C
c.128C>G (p.Pro43Arg)
6g.33575343G=CA1620073696BAK1,GGNBP1c.305C= (p.Pro102=)
c.245C= (p.Pro82=)
n.249-8G=
c.128C= (p.Pro43=)
6g.33575343G>TCA363652578BAK1,GGNBP1c.305C>A (p.Pro102His)
c.245C>A (p.Pro82His)
n.249-8G>T
c.128C>A (p.Pro43His)
6g.33575344G>ACA363652580BAK1,GGNBP1c.304C>T (p.Pro102Ser)
c.244C>T (p.Pro82Ser)
n.249-7G>A
c.127C>T (p.Pro43Ser)
6g.33575344G>CCA363652592BAK1,GGNBP1c.304C>G (p.Pro102Ala)
c.244C>G (p.Pro82Ala)
n.249-7G>C
c.127C>G (p.Pro43Ala)
6g.33575344G>TCA363652585BAK1,GGNBP1c.304C>A (p.Pro102Thr)
c.244C>A (p.Pro82Thr)
n.249-7G>T
c.127C>A (p.Pro43Thr)
6g.33575345C>ACA363652598BAK1,GGNBP1c.303G>T (p.Gln101His)
c.243G>T (p.Gln81His)
n.249-6C>A
c.126G>T (p.Gln42His)
6g.33575345C>GCA363652604BAK1,GGNBP1c.303G>C (p.Gln101His)
c.243G>C (p.Gln81His)
n.249-6C>G
c.126G>C (p.Gln42His)
6g.33575345C>TCA449868027BAK1,GGNBP1c.303G>A (p.Gln101=)
c.243G>A (p.Gln81=)
n.249-6C>T
c.126G>A (p.Gln42=)
6g.33575346T>ACA363652609BAK1,GGNBP1c.302A>T (p.Gln101Leu)
c.242A>T (p.Gln81Leu)
n.249-5T>A
c.125A>T (p.Gln42Leu)
6g.33575346T>CCA363652618BAK1,GGNBP1c.302A>G (p.Gln101Arg)
c.242A>G (p.Gln81Arg)
n.249-5T>C
c.125A>G (p.Gln42Arg)
6g.33575346T>GCA363652612BAK1,GGNBP1c.302A>C (p.Gln101Pro)
c.242A>C (p.Gln81Pro)
n.249-5T>G
c.125A>C (p.Gln42Pro)
 dbSNP
6g.33575346T=CA1620073700BAK1,GGNBP1c.302A= (p.Gln101=)
c.242A= (p.Gln81=)
n.249-5T=
c.125A= (p.Gln42=)
6g.33575347G>ACA363652624BAK1,GGNBP1c.301C>T (p.Gln101Ter)
c.241C>T (p.Gln81Ter)
n.249-4G>A
c.124C>T (p.Gln42Ter)
6g.33575347G>CCA363652628BAK1,GGNBP1c.301C>G (p.Gln101Glu)
c.241C>G (p.Gln81Glu)
n.249-4G>C
c.124C>G (p.Gln42Glu)
6g.33575347G=CA1620073703BAK1,GGNBP1c.301C= (p.Gln101=)
c.241C= (p.Gln81=)
n.249-4G=
c.124C= (p.Gln42=)
6g.33575347G>TCA3759527BAK1,GGNBP1c.301C>A (p.Gln101Lys)
c.241C>A (p.Gln81Lys)
n.249-4G>T
c.124C>A (p.Gln42Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.33575347_33575348dupCA2678285573BAK1,GGNBP1c.300_301dup (p.Gln101ArgfsTer?)
c.240_241dup (p.Gln81ArgfsTer?)
c.300_301dup (p.Gln101ArgfsTer27)
n.249-4_249-3dup
c.123_124dup (p.Gln42ArgfsTer?)
 gnomAD v4
6g.33575348C>ACA449868031BAK1,GGNBP1c.300G>T (p.Leu100=)
c.240G>T (p.Leu80=)
n.249-3C>A
c.123G>T (p.Leu41=)
6g.33575348C=CA1620073706BAK1,GGNBP1c.300G= (p.Leu100=)
c.240G= (p.Leu80=)
n.249-3C=
c.123G= (p.Leu41=)
6g.33575348C>GCA449868032BAK1,GGNBP1c.300G>C (p.Leu100=)
c.240G>C (p.Leu80=)
n.249-3C>G
c.123G>C (p.Leu41=)
6g.33575348C>TCA449868033BAK1,GGNBP1c.300G>A (p.Leu100=)
c.240G>A (p.Leu80=)
n.249-3C>T
c.123G>A (p.Leu41=)
 dbSNP gnomAD v4
6g.33575349A>CCA363652631BAK1,GGNBP1c.299T>G (p.Leu100Arg)
c.239T>G (p.Leu80Arg)
n.249-2A>C
c.122T>G (p.Leu41Arg)
6g.33575349A>GCA363652633BAK1,GGNBP1c.299T>C (p.Leu100Pro)
c.239T>C (p.Leu80Pro)
n.249-2A>G
c.122T>C (p.Leu41Pro)
6g.33575349A>TCA363652636BAK1,GGNBP1c.299T>A (p.Leu100Gln)
c.239T>A (p.Leu80Gln)
n.249-2A>T
c.122T>A (p.Leu41Gln)
 gnomAD v4
6g.33575350G>ACA449868037BAK1,GGNBP1c.298C>T (p.Leu100=)
c.238C>T (p.Leu80=)
n.249-1G>A
c.121C>T (p.Leu41=)
6g.33575350G>CCA363652640BAK1,GGNBP1c.298C>G (p.Leu100Val)
c.238C>G (p.Leu80Val)
n.249-1G>C
c.121C>G (p.Leu41Val)
6g.33575350G>TCA363652650BAK1,GGNBP1c.298C>A (p.Leu100Met)
c.238C>A (p.Leu80Met)
n.249-1G>T
c.121C>A (p.Leu41Met)
6g.33575351G>ACA449868038BAK1,GGNBP1c.297C>T (p.His99=)
c.237C>T (p.His79=)
n.249G>A
c.120C>T (p.His40=)
6g.33575351G>CCA363652652BAK1,GGNBP1c.297C>G (p.His99Gln)
c.237C>G (p.His79Gln)
n.249G>C
c.120C>G (p.His40Gln)
6g.33575351G>TCA363652653BAK1,GGNBP1c.297C>A (p.His99Gln)
c.237C>A (p.His79Gln)
n.249G>T
c.120C>A (p.His40Gln)
6g.33575352T>ACA363652655BAK1,GGNBP1c.296A>T (p.His99Leu)
c.236A>T (p.His79Leu)
n.250T>A
c.119A>T (p.His40Leu)
6g.33575352T>CCA363652656BAK1,GGNBP1c.296A>G (p.His99Arg)
c.236A>G (p.His79Arg)
n.250T>C
c.119A>G (p.His40Arg)

Number of alleles fetched