Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.149378218G>A | CA452719761 | TAB2 | n.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=) | |
6 | g.149378218G>C | CA365993326 | TAB2 | n.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) | |
6 | g.149378218G= | CA1671914855 | TAB2 | n.718G= c.303G= (p.Arg101=) c.-96-454G= (n.-96-454G=) c.81G= (p.Arg27=) c.207G= (p.Arg69=) | |
6 | g.149378218G>T | CA149915792 | TAB2 | n.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 |
6 | g.149378219A= | CA1671914859 | TAB2 | n.719A= c.304A= (p.Thr102=) c.-96-453A= (n.-96-453A=) c.82A= (p.Thr28=) c.208A= (p.Thr70=) | |
6 | g.149378219A>C | CA365993330 | TAB2 | n.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 |
6 | g.149378219A>G | CA4041378 | TAB2 | n.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 |
6 | g.149378219A>T | CA365993332 | TAB2 | n.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) | |
6 | g.149378220C>A | CA365993339 | TAB2 | n.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) | |
6 | g.149378220C= | CA1671914861 | TAB2 | n.720C= c.305C= (p.Thr102=) c.-96-452C= (n.-96-452C=) c.83C= (p.Thr28=) c.209C= (p.Thr70=) | |
6 | g.149378220C>G | CA365993338 | TAB2 | n.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 |
6 | g.149378220C>T | CA365993335 | TAB2 | n.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 |
6 | g.149378221T>A | CA452719764 | TAB2 | n.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=) | |
6 | g.149378221T>C | CA452719763 | TAB2 | n.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 |
6 | g.149378221T>G | CA452719762 | TAB2 | n.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=) | |
6 | g.149378221T= | CA1671914864 | TAB2 | n.721T= c.306T= (p.Thr102=) c.-96-451T= (n.-96-451T=) c.84T= (p.Thr28=) c.210T= (p.Thr70=) | |
6 | g.149378222C>A | CA365993341 | TAB2 | n.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) | |
6 | g.149378222C= | CA1671914867 | TAB2 | n.722C= c.307C= (p.Leu103=) c.-96-450C= (n.-96-450C=) c.85C= (p.Leu29=) c.211C= (p.Leu71=) | |
6 | g.149378222C>G | CA365993343 | TAB2 | n.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) | |
6 | g.149378222C>T | CA4041379 | TAB2 | n.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 |
6 | g.149378223T>A | CA365993347 | TAB2 | n.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 |
6 | g.149378223T>C | CA149915796 | TAB2 | n.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 |
6 | g.149378223T>G | CA365993350 | TAB2 | n.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) | |
6 | g.149378223T= | CA1671914873 | TAB2 | n.723T= c.308T= (p.Leu103=) c.-96-449T= (n.-96-449T=) c.86T= (p.Leu29=) c.212T= (p.Leu71=) | |
6 | g.149378223dup | CA452719765 | TAB2 | n.723dup c.308dup (p.Thr104AsnfsTer5) c.-96-449dup (n.-96-449dup) c.86dup (p.Thr30AsnfsTer5) c.212dup (p.Thr72AsnfsTer5) | |
6 | g.149378224A= | CA1671914876 | TAB2 | n.724A= c.309A= (p.Leu103=) c.-96-448A= (n.-96-448A=) c.87A= (p.Leu29=) c.213A= (p.Leu71=) | |
6 | g.149378224A>C | CA4041380 | TAB2 | n.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 |
6 | g.149378224A>G | CA452719767 | TAB2 | n.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=) | |
6 | g.149378224A>T | CA452719766 | TAB2 | n.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=) | |
6 | g.149378225A>C | CA365993355 | TAB2 | n.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) | |
6 | g.149378225A>G | CA365993359 | TAB2 | n.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) | |
6 | g.149378225A>T | CA365993357 | TAB2 | n.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) | |
6 | g.149378226C>A | CA4041382 | TAB2 | n.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 |
6 | g.149378226C= | CA1671914878 | TAB2 | n.726C= c.311C= (p.Thr104=) c.-96-446C= (n.-96-446C=) c.89C= (p.Thr30=) c.215C= (p.Thr72=) | |
6 | g.149378226C>G | CA365993363 | TAB2 | n.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) | |
6 | g.149378226C>T | CA4041381 | TAB2 | n.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 |
6 | g.149378227G>A | CA4041383 | TAB2 | n.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 |
6 | g.149378227G>C | CA452719769 | TAB2 | n.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=) | |
6 | g.149378227G= | CA1671914884 | TAB2 | n.727G= c.312G= (p.Thr104=) c.-96-445G= (n.-96-445G=) c.90G= (p.Thr30=) c.216G= (p.Thr72=) | |
6 | g.149378227G>T | CA452719771 | TAB2 | n.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=) | |
6 | g.149378228C>A | CA365993372 | TAB2 | n.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) | |
6 | g.149378228C= | CA1671914888 | TAB2 | n.728C= c.313C= (p.His105=) c.-96-444C= (n.-96-444C=) c.91C= (p.His31=) c.217C= (p.His73=) | |
6 | g.149378228C>G | CA365993368 | TAB2 | n.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) | |
6 | g.149378228C>T | CA4041384 | TAB2 | n.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 |
6 | g.149378229A>C | CA365993375 | TAB2 | n.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) | |
6 | g.149378229A>G | CA365993377 | TAB2 | n.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) | |
6 | g.149378229A>T | CA365993379 | TAB2 | n.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) | |
6 | g.149378230C>A | CA365993382 | TAB2 | n.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) | |
6 | g.149378230C>G | CA365993384 | TAB2 | n.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) | |
6 | g.149378230C>T | CA452719773 | TAB2 | n.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=) |