Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.149378218G>ACA452719761TAB2n.718G>A
c.303G>A (p.Arg101=)
c.-96-454G>A (n.-96-454G>A)
c.81G>A (p.Arg27=)
c.207G>A (p.Arg69=)
6g.149378218G>CCA365993326TAB2n.718G>C
c.303G>C (p.Arg101Ser)
c.-96-454G>C (n.-96-454G>C)
c.81G>C (p.Arg27Ser)
c.207G>C (p.Arg69Ser)
6g.149378218G=CA1671914855TAB2n.718G=
c.303G= (p.Arg101=)
c.-96-454G= (n.-96-454G=)
c.81G= (p.Arg27=)
c.207G= (p.Arg69=)
6g.149378218G>TCA149915792TAB2n.718G>T
c.303G>T (p.Arg101Ser)
c.-96-454G>T (n.-96-454G>T)
c.81G>T (p.Arg27Ser)
c.207G>T (p.Arg69Ser)
dbSNP gnomAD v4
6g.149378219A=CA1671914859TAB2n.719A=
c.304A= (p.Thr102=)
c.-96-453A= (n.-96-453A=)
c.82A= (p.Thr28=)
c.208A= (p.Thr70=)
6g.149378219A>CCA365993330TAB2n.719A>C
c.304A>C (p.Thr102Pro)
c.-96-453A>C (n.-96-453A>C)
c.82A>C (p.Thr28Pro)
c.208A>C (p.Thr70Pro)
gnomAD v4
6g.149378219A>GCA4041378TAB2n.719A>G
c.304A>G (p.Thr102Ala)
c.-96-453A>G (n.-96-453A>G)
c.82A>G (p.Thr28Ala)
c.208A>G (p.Thr70Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378219A>TCA365993332TAB2n.719A>T
c.304A>T (p.Thr102Ser)
c.-96-453A>T (n.-96-453A>T)
c.82A>T (p.Thr28Ser)
c.208A>T (p.Thr70Ser)
6g.149378220C>ACA365993339TAB2n.720C>A
c.305C>A (p.Thr102Asn)
c.-96-452C>A (n.-96-452C>A)
c.83C>A (p.Thr28Asn)
c.209C>A (p.Thr70Asn)
6g.149378220C=CA1671914861TAB2n.720C=
c.305C= (p.Thr102=)
c.-96-452C= (n.-96-452C=)
c.83C= (p.Thr28=)
c.209C= (p.Thr70=)
6g.149378220C>GCA365993338TAB2n.720C>G
c.305C>G (p.Thr102Ser)
c.-96-452C>G (n.-96-452C>G)
c.83C>G (p.Thr28Ser)
c.209C>G (p.Thr70Ser)
dbSNP gnomAD v4
6g.149378220C>TCA365993335TAB2n.720C>T
c.305C>T (p.Thr102Ile)
c.-96-452C>T (n.-96-452C>T)
c.83C>T (p.Thr28Ile)
c.209C>T (p.Thr70Ile)
dbSNP gnomAD v4
6g.149378221T>ACA452719764TAB2n.721T>A
c.306T>A (p.Thr102=)
c.-96-451T>A (n.-96-451T>A)
c.84T>A (p.Thr28=)
c.210T>A (p.Thr70=)
6g.149378221T>CCA452719763TAB2n.721T>C
c.306T>C (p.Thr102=)
c.-96-451T>C (n.-96-451T>C)
c.84T>C (p.Thr28=)
c.210T>C (p.Thr70=)
dbSNP gnomAD v2 gnomAD v4
6g.149378221T>GCA452719762TAB2n.721T>G
c.306T>G (p.Thr102=)
c.-96-451T>G (n.-96-451T>G)
c.84T>G (p.Thr28=)
c.210T>G (p.Thr70=)
6g.149378221T=CA1671914864TAB2n.721T=
c.306T= (p.Thr102=)
c.-96-451T= (n.-96-451T=)
c.84T= (p.Thr28=)
c.210T= (p.Thr70=)
6g.149378222C>ACA365993341TAB2n.722C>A
c.307C>A (p.Leu103Ile)
c.-96-450C>A (n.-96-450C>A)
c.85C>A (p.Leu29Ile)
c.211C>A (p.Leu71Ile)
6g.149378222C=CA1671914867TAB2n.722C=
c.307C= (p.Leu103=)
c.-96-450C= (n.-96-450C=)
c.85C= (p.Leu29=)
c.211C= (p.Leu71=)
6g.149378222C>GCA365993343TAB2n.722C>G
c.307C>G (p.Leu103Val)
c.-96-450C>G (n.-96-450C>G)
c.85C>G (p.Leu29Val)
c.211C>G (p.Leu71Val)
6g.149378222C>TCA4041379TAB2n.722C>T
c.307C>T (p.Leu103=)
c.-96-450C>T (n.-96-450C>T)
c.85C>T (p.Leu29=)
c.211C>T (p.Leu71=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378223T>ACA365993347TAB2n.723T>A
c.308T>A (p.Leu103Gln)
c.-96-449T>A (n.-96-449T>A)
c.86T>A (p.Leu29Gln)
c.212T>A (p.Leu71Gln)
gnomAD v4
6g.149378223T>CCA149915796TAB2n.723T>C
c.308T>C (p.Leu103Pro)
c.-96-449T>C (n.-96-449T>C)
c.86T>C (p.Leu29Pro)
c.212T>C (p.Leu71Pro)
dbSNP
6g.149378223T>GCA365993350TAB2n.723T>G
c.308T>G (p.Leu103Arg)
c.-96-449T>G (n.-96-449T>G)
c.86T>G (p.Leu29Arg)
c.212T>G (p.Leu71Arg)
6g.149378223T=CA1671914873TAB2n.723T=
c.308T= (p.Leu103=)
c.-96-449T= (n.-96-449T=)
c.86T= (p.Leu29=)
c.212T= (p.Leu71=)
6g.149378223dupCA452719765TAB2n.723dup
c.308dup (p.Thr104AsnfsTer5)
c.-96-449dup (n.-96-449dup)
c.86dup (p.Thr30AsnfsTer5)
c.212dup (p.Thr72AsnfsTer5)
6g.149378224A=CA1671914876TAB2n.724A=
c.309A= (p.Leu103=)
c.-96-448A= (n.-96-448A=)
c.87A= (p.Leu29=)
c.213A= (p.Leu71=)
6g.149378224A>CCA4041380TAB2n.724A>C
c.309A>C (p.Leu103=)
c.-96-448A>C (n.-96-448A>C)
c.87A>C (p.Leu29=)
c.213A>C (p.Leu71=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378224A>GCA452719767TAB2n.724A>G
c.309A>G (p.Leu103=)
c.-96-448A>G (n.-96-448A>G)
c.87A>G (p.Leu29=)
c.213A>G (p.Leu71=)
6g.149378224A>TCA452719766TAB2n.724A>T
c.309A>T (p.Leu103=)
c.-96-448A>T (n.-96-448A>T)
c.87A>T (p.Leu29=)
c.213A>T (p.Leu71=)
6g.149378225A>CCA365993355TAB2n.725A>C
c.310A>C (p.Thr104Pro)
c.-96-447A>C (n.-96-447A>C)
c.88A>C (p.Thr30Pro)
c.214A>C (p.Thr72Pro)
6g.149378225A>GCA365993359TAB2n.725A>G
c.310A>G (p.Thr104Ala)
c.-96-447A>G (n.-96-447A>G)
c.88A>G (p.Thr30Ala)
c.214A>G (p.Thr72Ala)
6g.149378225A>TCA365993357TAB2n.725A>T
c.310A>T (p.Thr104Ser)
c.-96-447A>T (n.-96-447A>T)
c.88A>T (p.Thr30Ser)
c.214A>T (p.Thr72Ser)
6g.149378226C>ACA4041382TAB2n.726C>A
c.311C>A (p.Thr104Lys)
c.-96-446C>A (n.-96-446C>A)
c.89C>A (p.Thr30Lys)
c.215C>A (p.Thr72Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378226C=CA1671914878TAB2n.726C=
c.311C= (p.Thr104=)
c.-96-446C= (n.-96-446C=)
c.89C= (p.Thr30=)
c.215C= (p.Thr72=)
6g.149378226C>GCA365993363TAB2n.726C>G
c.311C>G (p.Thr104Arg)
c.-96-446C>G (n.-96-446C>G)
c.89C>G (p.Thr30Arg)
c.215C>G (p.Thr72Arg)
6g.149378226C>TCA4041381TAB2n.726C>T
c.311C>T (p.Thr104Met)
c.-96-446C>T (n.-96-446C>T)
c.89C>T (p.Thr30Met)
c.215C>T (p.Thr72Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378227G>ACA4041383TAB2n.727G>A
c.312G>A (p.Thr104=)
c.-96-445G>A (n.-96-445G>A)
c.90G>A (p.Thr30=)
c.216G>A (p.Thr72=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.149378227G>CCA452719769TAB2n.727G>C
c.312G>C (p.Thr104=)
c.-96-445G>C (n.-96-445G>C)
c.90G>C (p.Thr30=)
c.216G>C (p.Thr72=)
6g.149378227G=CA1671914884TAB2n.727G=
c.312G= (p.Thr104=)
c.-96-445G= (n.-96-445G=)
c.90G= (p.Thr30=)
c.216G= (p.Thr72=)
6g.149378227G>TCA452719771TAB2n.727G>T
c.312G>T (p.Thr104=)
c.-96-445G>T (n.-96-445G>T)
c.90G>T (p.Thr30=)
c.216G>T (p.Thr72=)
6g.149378228C>ACA365993372TAB2n.728C>A
c.313C>A (p.His105Asn)
c.-96-444C>A (n.-96-444C>A)
c.91C>A (p.His31Asn)
c.217C>A (p.His73Asn)
6g.149378228C=CA1671914888TAB2n.728C=
c.313C= (p.His105=)
c.-96-444C= (n.-96-444C=)
c.91C= (p.His31=)
c.217C= (p.His73=)
6g.149378228C>GCA365993368TAB2n.728C>G
c.313C>G (p.His105Asp)
c.-96-444C>G (n.-96-444C>G)
c.91C>G (p.His31Asp)
c.217C>G (p.His73Asp)
6g.149378228C>TCA4041384TAB2n.728C>T
c.313C>T (p.His105Tyr)
c.-96-444C>T (n.-96-444C>T)
c.91C>T (p.His31Tyr)
c.217C>T (p.His73Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.149378229A>CCA365993375TAB2n.729A>C
c.314A>C (p.His105Pro)
c.-96-443A>C (n.-96-443A>C)
c.92A>C (p.His31Pro)
c.218A>C (p.His73Pro)
6g.149378229A>GCA365993377TAB2n.729A>G
c.314A>G (p.His105Arg)
c.-96-443A>G (n.-96-443A>G)
c.92A>G (p.His31Arg)
c.218A>G (p.His73Arg)
6g.149378229A>TCA365993379TAB2n.729A>T
c.314A>T (p.His105Leu)
c.-96-443A>T (n.-96-443A>T)
c.92A>T (p.His31Leu)
c.218A>T (p.His73Leu)
6g.149378230C>ACA365993382TAB2n.730C>A
c.315C>A (p.His105Gln)
c.-96-442C>A (n.-96-442C>A)
c.93C>A (p.His31Gln)
c.219C>A (p.His73Gln)
6g.149378230C>GCA365993384TAB2n.730C>G
c.315C>G (p.His105Gln)
c.-96-442C>G (n.-96-442C>G)
c.93C>G (p.His31Gln)
c.219C>G (p.His73Gln)
6g.149378230C>TCA452719773TAB2n.730C>T
c.315C>T (p.His105=)
c.-96-442C>T (n.-96-442C>T)
c.93C>T (p.His31=)
c.219C>T (p.His73=)

Number of alleles fetched