Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
7 | g.44152332A= | CA1703637055 | GCK | c.*300T= (n.*300T=) c.302T= (p.Val101=) n.788T= c.305T= (p.Val102=) c.299T= (p.Val100=) | |
7 | g.44152332A>C | CA367402773 | GCK | c.*300T>G (n.*300T>G) c.302T>G (p.Val101Gly) n.788T>G c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | |
7 | g.44152332A>G | CA367402774 | GCK | c.*300T>C (n.*300T>C) c.302T>C (p.Val101Ala) n.788T>C c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | dbSNP |
7 | g.44152332A>T | CA367402776 | GCK | c.*300T>A (n.*300T>A) c.302T>A (p.Val101Glu) n.788T>A c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
7 | g.44152333del | CA2695202998 | GCK | c.*299del (n.*299del) c.301del (p.Val101Ter) n.787del c.304del (p.Val102Ter) c.298del (p.Val100Ter) | |
7 | g.44152333C>A | CA367402778 | GCK | c.*299G>T (n.*299G>T) c.301G>T (p.Val101Leu) n.787G>T c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | ClinVar |
7 | g.44152333C= | CA1703637056 | GCK | c.*299G= (n.*299G=) c.301G= (p.Val101=) n.787G= c.304G= (p.Val102=) c.298G= (p.Val100=) | |
7 | g.44152333C>G | CA367402780 | GCK | c.*299G>C (n.*299G>C) c.301G>C (p.Val101Leu) n.787G>C c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
7 | g.44152333C>T | CA4239679 | GCK | c.*299G>A (n.*299G>A) c.301G>A (p.Val101Met) n.787G>A c.304G>A (p.Val102Met) c.298G>A (p.Val100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152334G>A | CA4239680 | GCK | c.*298C>T (n.*298C>T) c.300C>T (p.Ser100=) n.786C>T c.303C>T (p.Ser101=) c.297C>T (p.Ser99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152334G>C | CA367402783 | GCK | c.*298C>G (n.*298C>G) c.300C>G (p.Ser100Arg) n.786C>G c.303C>G (p.Ser101Arg) c.297C>G (p.Ser99Arg) | |
7 | g.44152334G= | CA1703637057 | GCK | c.*298C= (n.*298C=) c.300C= (p.Ser100=) n.786C= c.303C= (p.Ser101=) c.297C= (p.Ser99=) | |
7 | g.44152334G>T | CA367402785 | GCK | c.*298C>A (n.*298C>A) c.300C>A (p.Ser100Arg) n.786C>A c.303C>A (p.Ser101Arg) c.297C>A (p.Ser99Arg) | |
7 | g.44152335C>A | CA367402787 | GCK | c.*297G>T (n.*297G>T) c.299G>T (p.Ser100Ile) n.785G>T c.302G>T (p.Ser101Ile) c.296G>T (p.Ser99Ile) | |
7 | g.44152335C>G | CA367402788 | GCK | c.*297G>C (n.*297G>C) c.299G>C (p.Ser100Thr) n.785G>C c.302G>C (p.Ser101Thr) c.296G>C (p.Ser99Thr) | |
7 | g.44152335C>T | CA367402789 | GCK | c.*297G>A (n.*297G>A) c.299G>A (p.Ser100Asn) n.785G>A c.302G>A (p.Ser101Asn) c.296G>A (p.Ser99Asn) | |
7 | g.44152339_44152360del | CA2695203001 | GCK | c.*276_*297del (n.*276_*297del) c.278_299del (p.Glu93AlafsTer2) n.764_785del c.281_302del (p.Glu94AlafsTer2) c.275_296del (p.Glu92AlafsTer2) | |
7 | g.44152336del | CA2695203002 | GCK | c.*296del (n.*296del) c.298del (p.Ser100AlafsTer2) n.784del c.301del (p.Ser101AlafsTer2) c.295del (p.Ser99AlafsTer2) | |
7 | g.44152336T>A | CA367402793 | GCK | c.*296A>T (n.*296A>T) c.298A>T (p.Ser100Cys) n.784A>T c.301A>T (p.Ser101Cys) c.295A>T (p.Ser99Cys) | |
7 | g.44152336T>C | CA367402795 | GCK | c.*296A>G (n.*296A>G) c.298A>G (p.Ser100Gly) n.784A>G c.301A>G (p.Ser101Gly) c.295A>G (p.Ser99Gly) | dbSNP gnomAD v4 |
7 | g.44152336T>G | CA367402792 | GCK | c.*296A>C (n.*296A>C) c.298A>C (p.Ser100Arg) n.784A>C c.301A>C (p.Ser101Arg) c.295A>C (p.Ser99Arg) | |
7 | g.44152336T= | CA1703637058 | GCK | c.*296A= (n.*296A=) c.298A= (p.Ser100=) n.784A= c.301A= (p.Ser101=) c.295A= (p.Ser99=) | |
7 | g.44152337C>A | CA367402799 | GCK | c.*295G>T (n.*295G>T) c.297G>T (p.Trp99Cys) n.783G>T c.300G>T (p.Trp100Cys) c.294G>T (p.Trp98Cys) | |
7 | g.44152337C>G | CA367402797 | GCK | c.*295G>C (n.*295G>C) c.297G>C (p.Trp99Cys) n.783G>C c.300G>C (p.Trp100Cys) c.294G>C (p.Trp98Cys) | |
7 | g.44152337C>T | CA367402801 | GCK | c.*295G>A (n.*295G>A) c.297G>A (p.Trp99Ter) n.783G>A c.300G>A (p.Trp100Ter) c.294G>A (p.Trp98Ter) | |
7 | g.44152338C>A | CA367402803 | GCK | c.*294G>T (n.*294G>T) c.296G>T (p.Trp99Leu) n.782G>T c.299G>T (p.Trp100Leu) c.293G>T (p.Trp98Leu) | |
7 | g.44152338C>G | CA367402806 | GCK | c.*294G>C (n.*294G>C) c.296G>C (p.Trp99Ser) n.782G>C c.299G>C (p.Trp100Ser) c.293G>C (p.Trp98Ser) | |
7 | g.44152338C>T | CA367402804 | GCK | c.*294G>A (n.*294G>A) c.296G>A (p.Trp99Ter) n.782G>A c.299G>A (p.Trp100Ter) c.293G>A (p.Trp98Ter) | ClinVar COSMIC COSMIC |
7 | g.44152338_44152339delinsCA | CA1703637059 | GCK | c.*293_*294delinsTG (n.*293_*294delinsTG) c.295_296delinsTG (p.Trp99=) n.781_782delinsTG c.298_299delinsTG (p.Trp100=) c.292_293delinsTG (p.Trp98=) | |
7 | g.44152339del | CA645372836 | GCK | c.*293del (n.*293del) c.295del (p.Trp99GlyfsTer3) n.781del c.298del (p.Trp100GlyfsTer3) c.292del (p.Trp98GlyfsTer3) | ClinVar dbSNP |
7 | g.44152339A= | CA1703637060 | GCK | c.*293T= (n.*293T=) c.295T= (p.Trp99=) n.781T= c.298T= (p.Trp100=) c.292T= (p.Trp98=) | |
7 | g.44152339A>C | CA367402808 | GCK | c.*293T>G (n.*293T>G) c.295T>G (p.Trp99Gly) n.781T>G c.298T>G (p.Trp100Gly) c.292T>G (p.Trp98Gly) | |
7 | g.44152339A>G | CA367402811 | GCK | c.*293T>C (n.*293T>C) c.295T>C (p.Trp99Arg) n.781T>C c.298T>C (p.Trp100Arg) c.292T>C (p.Trp98Arg) | ClinVar dbSNP |
7 | g.44152339A>T | CA367402810 | GCK | c.*293T>A (n.*293T>A) c.295T>A (p.Trp99Arg) n.781T>A c.298T>A (p.Trp100Arg) c.292T>A (p.Trp98Arg) | |
7 | g.44152340C>A | CA367402812 | GCK | c.*292G>T (n.*292G>T) c.294G>T (p.Gln98His) n.780G>T c.297G>T (p.Gln99His) c.291G>T (p.Gln97His) | |
7 | g.44152340C>G | CA367402813 | GCK | c.*292G>C (n.*292G>C) c.294G>C (p.Gln98His) n.780G>C c.297G>C (p.Gln99His) c.291G>C (p.Gln97His) | |
7 | g.44152340C>T | CA454610247 | GCK | c.*292G>A (n.*292G>A) c.294G>A (p.Gln98=) n.780G>A c.297G>A (p.Gln99=) c.291G>A (p.Gln97=) | gnomAD v4 |
7 | g.44152341T>A | CA367402814 | GCK | c.*291A>T (n.*291A>T) c.293A>T (p.Gln98Leu) n.779A>T c.296A>T (p.Gln99Leu) c.290A>T (p.Gln97Leu) | |
7 | g.44152341T>C | CA367402815 | GCK | c.*291A>G (n.*291A>G) c.293A>G (p.Gln98Arg) n.779A>G c.296A>G (p.Gln99Arg) c.290A>G (p.Gln97Arg) | |
7 | g.44152341T>G | CA367402817 | GCK | c.*291A>C (n.*291A>C) c.293A>C (p.Gln98Pro) n.779A>C c.296A>C (p.Gln99Pro) c.290A>C (p.Gln97Pro) | |
7 | g.44152341dup | CA2695203003 | GCK | c.*291dup (n.*291dup) c.293dup (p.Trp99ValfsTer22) n.779dup c.296dup (p.Trp100ValfsTer22) c.290dup (p.Trp98ValfsTer22) | |
7 | g.44152342G>A | CA367402818 | GCK | c.*290C>T (n.*290C>T) c.292C>T (p.Gln98Ter) n.778C>T c.295C>T (p.Gln99Ter) c.289C>T (p.Gln97Ter) | ClinVar |
7 | g.44152342G>C | CA367402819 | GCK | c.*290C>G (n.*290C>G) c.292C>G (p.Gln98Glu) n.778C>G c.295C>G (p.Gln99Glu) c.289C>G (p.Gln97Glu) | |
7 | g.44152342G>T | CA367402820 | GCK | c.*290C>A (n.*290C>A) c.292C>A (p.Gln98Lys) n.778C>A c.295C>A (p.Gln99Lys) c.289C>A (p.Gln97Lys) | |
7 | g.44152342_44152343delinsGC | CA1703637061 | GCK | c.*289_*290delinsGC (n.*289_*290delinsGC) c.291_292delinsGC (p.Gly97=) n.777_778delinsGC c.294_295delinsGC (p.Gly98=) c.288_289delinsGC (p.Gly96=) | |
7 | g.44152343C>A | CA454610252 | GCK | c.*289G>T (n.*289G>T) c.291G>T (p.Gly97=) n.777G>T c.294G>T (p.Gly98=) c.288G>T (p.Gly96=) | |
7 | g.44152343C>G | CA454610250 | GCK | c.*289G>C (n.*289G>C) c.291G>C (p.Gly97=) n.777G>C c.294G>C (p.Gly98=) c.288G>C (p.Gly96=) | |
7 | g.44152343C>T | CA454610251 | GCK | c.*289G>A (n.*289G>A) c.291G>A (p.Gly97=) n.777G>A c.294G>A (p.Gly98=) c.288G>A (p.Gly96=) | |
7 | g.44152346dup | CA2695203004 | GCK | c.*289dup (n.*289dup) c.291dup (p.Gln98AlafsTer23) n.777dup c.294dup (p.Gln99AlafsTer23) c.288dup (p.Gln97AlafsTer23) |