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.44152320T>A | CA367402726 | GCK | c.*312A>T (n.*312A>T) c.314A>T (p.His105Leu) n.800A>T c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
7 | g.44152320T>C | CA367402728 | GCK | c.*312A>G (n.*312A>G) c.314A>G (p.His105Arg) n.800A>G c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152320T>G | CA367402729 | GCK | c.*312A>C (n.*312A>C) c.314A>C (p.His105Pro) n.800A>C c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
7 | g.44152320T= | CA1703637049 | GCK | c.*312A= (n.*312A=) c.314A= (p.His105=) n.800A= c.317A= (p.His106=) c.311A= (p.His104=) | |
7 | g.44152322_44152325del | CA2695202994 | GCK | c.*309_*312del (n.*309_*312del) c.311_314del (p.Lys104ThrfsTer11) n.797_800del c.314_317del (p.Lys105ThrfsTer11) c.308_311del (p.Lys103ThrfsTer11) | |
7 | g.44152321del | CA2695202995 | GCK | c.*311del (n.*311del) c.313del (p.His105ThrfsTer11) n.799del c.316del (p.His106ThrfsTer11) c.310del (p.His104ThrfsTer11) | |
7 | g.44152321G>A | CA367402731 | GCK | c.*311C>T (n.*311C>T) c.313C>T (p.His105Tyr) n.799C>T c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | gnomAD v4 |
7 | g.44152321G>C | CA367402733 | GCK | c.*311C>G (n.*311C>G) c.313C>G (p.His105Asp) n.799C>G c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
7 | g.44152321G>T | CA367402734 | GCK | c.*311C>A (n.*311C>A) c.313C>A (p.His105Asn) n.799C>A c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | dbSNP |
7 | g.44152329_44152330insCCGTTTGGTCT | CA2695202996 | GCK | c.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC) c.313_314insGGAGACCAAAC (p.His105ArgfsTer15) n.799_800insGGAGACCAAAC c.316_317insGGAGACCAAAC (p.His106ArgfsTer15) c.310_311insGGAGACCAAAC (p.His104ArgfsTer15) | |
7 | g.44152322T>A | CA367402735 | GCK | c.*310A>T (n.*310A>T) c.312A>T (p.Lys104Asn) n.798A>T c.315A>T (p.Lys105Asn) c.309A>T (p.Lys103Asn) | |
7 | g.44152322T>C | CA454610212 | GCK | c.*310A>G (n.*310A>G) c.312A>G (p.Lys104=) n.798A>G c.315A>G (p.Lys105=) c.309A>G (p.Lys103=) | |
7 | g.44152322T>G | CA367402736 | GCK | c.*310A>C (n.*310A>C) c.312A>C (p.Lys104Asn) n.798A>C c.315A>C (p.Lys105Asn) c.309A>C (p.Lys103Asn) | |
7 | g.44152323T>A | CA367402739 | GCK | c.*309A>T (n.*309A>T) c.311A>T (p.Lys104Ile) n.797A>T c.314A>T (p.Lys105Ile) c.308A>T (p.Lys103Ile) | |
7 | g.44152323T>C | CA367402740 | GCK | c.*309A>G (n.*309A>G) c.311A>G (p.Lys104Arg) n.797A>G c.314A>G (p.Lys105Arg) c.308A>G (p.Lys103Arg) | |
7 | g.44152323T>G | CA367402738 | GCK | c.*309A>C (n.*309A>C) c.311A>C (p.Lys104Thr) n.797A>C c.314A>C (p.Lys105Thr) c.308A>C (p.Lys103Thr) | |
7 | g.44152324T>A | CA367402742 | GCK | c.*308A>T (n.*308A>T) c.310A>T (p.Lys104Ter) n.796A>T c.313A>T (p.Lys105Ter) c.307A>T (p.Lys103Ter) | |
7 | g.44152324T>C | CA367402743 | GCK | c.*308A>G (n.*308A>G) c.310A>G (p.Lys104Glu) n.796A>G c.313A>G (p.Lys105Glu) c.307A>G (p.Lys103Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152324T>G | CA367402745 | GCK | c.*308A>C (n.*308A>C) c.310A>C (p.Lys104Gln) n.796A>C c.313A>C (p.Lys105Gln) c.307A>C (p.Lys103Gln) | |
7 | g.44152324T= | CA1703637050 | GCK | c.*308A= (n.*308A=) c.310A= (p.Lys104=) n.796A= c.313A= (p.Lys105=) c.307A= (p.Lys103=) | |
7 | g.44152325G>A | CA454610215 | GCK | c.*307C>T (n.*307C>T) c.309C>T (p.Thr103=) n.795C>T c.312C>T (p.Thr104=) c.306C>T (p.Thr102=) | |
7 | g.44152325G>C | CA454610216 | GCK | c.*307C>G (n.*307C>G) c.309C>G (p.Thr103=) n.795C>G c.312C>G (p.Thr104=) c.306C>G (p.Thr102=) | |
7 | g.44152325G>T | CA454610218 | GCK | c.*307C>A (n.*307C>A) c.309C>A (p.Thr103=) n.795C>A c.312C>A (p.Thr104=) c.306C>A (p.Thr102=) | |
7 | g.44152326G>A | CA367402747 | GCK | c.*306C>T (n.*306C>T) c.308C>T (p.Thr103Ile) n.794C>T c.311C>T (p.Thr104Ile) c.305C>T (p.Thr102Ile) | |
7 | g.44152326G>C | CA367402748 | GCK | c.*306C>G (n.*306C>G) c.308C>G (p.Thr103Ser) n.794C>G c.311C>G (p.Thr104Ser) c.305C>G (p.Thr102Ser) | ClinVar gnomAD v4 |
7 | g.44152326G= | CA1703637051 | GCK | c.*306C= (n.*306C=) c.308C= (p.Thr103=) n.794C= c.311C= (p.Thr104=) c.305C= (p.Thr102=) | |
7 | g.44152326G>T | CA367402750 | GCK | c.*306C>A (n.*306C>A) c.308C>A (p.Thr103Asn) n.794C>A c.311C>A (p.Thr104Asn) c.305C>A (p.Thr102Asn) | dbSNP |
7 | g.44152327del | CA2573142148 | GCK | c.*305del (n.*305del) c.307del (p.Thr103ProfsTer13) n.793del c.310del (p.Thr104ProfsTer13) c.304del (p.Thr102ProfsTer13) | ClinVar dbSNP |
7 | g.44152327T>A | CA367402757 | GCK | c.*305A>T (n.*305A>T) c.307A>T (p.Thr103Ser) n.793A>T c.310A>T (p.Thr104Ser) c.304A>T (p.Thr102Ser) | ClinVar dbSNP |
7 | g.44152327T>C | CA367402755 | GCK | c.*305A>G (n.*305A>G) c.307A>G (p.Thr103Ala) n.793A>G c.310A>G (p.Thr104Ala) c.304A>G (p.Thr102Ala) | gnomAD v4 |
7 | g.44152327T>G | CA367402756 | GCK | c.*305A>C (n.*305A>C) c.307A>C (p.Thr103Pro) n.793A>C c.310A>C (p.Thr104Pro) c.304A>C (p.Thr102Pro) | |
7 | g.44152327T= | CA1703637052 | GCK | c.*305A= (n.*305A=) c.307A= (p.Thr103=) n.793A= c.310A= (p.Thr104=) c.304A= (p.Thr102=) | |
7 | g.44152328C>A | CA367402759 | GCK | c.*304G>T (n.*304G>T) c.306G>T (p.Lys102Asn) n.792G>T c.309G>T (p.Lys103Asn) c.303G>T (p.Lys101Asn) | |
7 | g.44152328C>G | CA367402761 | GCK | c.*304G>C (n.*304G>C) c.306G>C (p.Lys102Asn) n.792G>C c.309G>C (p.Lys103Asn) c.303G>C (p.Lys101Asn) | gnomAD v4 |
7 | g.44152328C>T | CA454610224 | GCK | c.*304G>A (n.*304G>A) c.306G>A (p.Lys102=) n.792G>A c.309G>A (p.Lys103=) c.303G>A (p.Lys101=) | gnomAD v4 |
7 | g.44152329T>A | CA367402763 | GCK | c.*303A>T (n.*303A>T) c.305A>T (p.Lys102Met) n.791A>T c.308A>T (p.Lys103Met) c.302A>T (p.Lys101Met) | |
7 | g.44152329T>C | CA367402764 | GCK | c.*303A>G (n.*303A>G) c.305A>G (p.Lys102Arg) n.791A>G c.308A>G (p.Lys103Arg) c.302A>G (p.Lys101Arg) | |
7 | g.44152329T>G | CA367402765 | GCK | c.*303A>C (n.*303A>C) c.305A>C (p.Lys102Thr) n.791A>C c.308A>C (p.Lys103Thr) c.302A>C (p.Lys101Thr) | dbSNP |
7 | g.44152329T= | CA1703637053 | GCK | c.*303A= (n.*303A=) c.305A= (p.Lys102=) n.791A= c.308A= (p.Lys103=) c.302A= (p.Lys101=) | |
7 | g.44152330T>A | CA213775 | GCK | c.*302A>T (n.*302A>T) c.304A>T (p.Lys102Ter) n.790A>T c.307A>T (p.Lys103Ter) c.301A>T (p.Lys101Ter) | ClinVar dbSNP |
7 | g.44152330T>C | CA367402771 | GCK | c.*302A>G (n.*302A>G) c.304A>G (p.Lys102Glu) n.790A>G c.307A>G (p.Lys103Glu) c.301A>G (p.Lys101Glu) | |
7 | g.44152330T>G | CA367402769 | GCK | c.*302A>C (n.*302A>C) c.304A>C (p.Lys102Gln) n.790A>C c.307A>C (p.Lys103Gln) c.301A>C (p.Lys101Gln) | |
7 | g.44152330T= | CA1703637054 | GCK | c.*302A= (n.*302A=) c.304A= (p.Lys102=) n.790A= c.307A= (p.Lys103=) c.301A= (p.Lys101=) | |
7 | g.44152331C>A | CA454610230 | GCK | c.*301G>T (n.*301G>T) c.303G>T (p.Val101=) n.789G>T c.306G>T (p.Val102=) c.300G>T (p.Val100=) | |
7 | g.44152331C>G | CA454610231 | GCK | c.*301G>C (n.*301G>C) c.303G>C (p.Val101=) n.789G>C c.306G>C (p.Val102=) c.300G>C (p.Val100=) | |
7 | g.44152331C>T | CA454610232 | GCK | c.*301G>A (n.*301G>A) c.303G>A (p.Val101=) n.789G>A c.306G>A (p.Val102=) c.300G>A (p.Val100=) | gnomAD v4 COSMIC COSMIC COSMIC |
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 |