| 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.44152277_44152284del | CA2580077152 | GCK | c.*349_*356del (n.*349_*356del) c.351_358del (p.Thr118AspfsTer8) n.837_844del c.354_361del (p.Thr119AspfsTer8) c.348_355del (p.Thr117AspfsTer8) c.351_358del (p.Thr118AspfsTer24) | ClinVar gnomAD v4 |
| 7 | g.44152281G>A | CA367402574 | GCK | c.*351C>T (n.*351C>T) c.353C>T (p.Thr118Ile) n.839C>T c.356C>T (p.Thr119Ile) c.350C>T (p.Thr117Ile) | |
| 7 | g.44152281G>C | CA367402572 | GCK | c.*351C>G (n.*351C>G) c.353C>G (p.Thr118Ser) n.839C>G c.356C>G (p.Thr119Ser) c.350C>G (p.Thr117Ser) | |
| 7 | g.44152281G>T | CA367402573 | GCK | c.*351C>A (n.*351C>A) c.353C>A (p.Thr118Asn) n.839C>A c.356C>A (p.Thr119Asn) c.350C>A (p.Thr117Asn) | |
| 7 | g.44152282T>A | CA367402575 | GCK | c.*350A>T (n.*350A>T) c.352A>T (p.Thr118Ser) n.838A>T c.355A>T (p.Thr119Ser) c.349A>T (p.Thr117Ser) | ClinVar |
| 7 | g.44152282T>C | CA367402576 | GCK | c.*350A>G (n.*350A>G) c.352A>G (p.Thr118Ala) n.838A>G c.355A>G (p.Thr119Ala) c.349A>G (p.Thr117Ala) | ClinVar dbSNP |
| 7 | g.44152282T>G | CA367402577 | GCK | c.*350A>C (n.*350A>C) c.352A>C (p.Thr118Pro) n.838A>C c.355A>C (p.Thr119Pro) c.349A>C (p.Thr117Pro) | |
| 7 | g.44152283G>A | CA454610173 | GCK | c.*349C>T (n.*349C>T) c.351C>T (p.Gly117=) n.837C>T c.354C>T (p.Gly118=) c.348C>T (p.Gly116=) | |
| 7 | g.44152283G>C | CA454610174 | GCK | c.*349C>G (n.*349C>G) c.351C>G (p.Gly117=) n.837C>G c.354C>G (p.Gly118=) c.348C>G (p.Gly116=) | |
| 7 | g.44152283G>T | CA454610175 | GCK | c.*349C>A (n.*349C>A) c.351C>A (p.Gly117=) n.837C>A c.354C>A (p.Gly118=) c.348C>A (p.Gly116=) | |
| 7 | g.44152284C>A | CA367402580 | GCK | c.*348G>T (n.*348G>T) c.350G>T (p.Gly117Val) n.836G>T c.353G>T (p.Gly118Val) c.347G>T (p.Gly116Val) | ClinVar |
| 7 | g.44152284C>G | CA367402581 | GCK | c.*348G>C (n.*348G>C) c.350G>C (p.Gly117Ala) n.836G>C c.353G>C (p.Gly118Ala) c.347G>C (p.Gly116Ala) | |
| 7 | g.44152284C>T | CA367402583 | GCK | c.*348G>A (n.*348G>A) c.350G>A (p.Gly117Asp) n.836G>A c.353G>A (p.Gly118Asp) c.347G>A (p.Gly116Asp) | COSMIC COSMIC COSMIC |
| 7 | g.44152285C>A | CA367402584 | GCK | c.*347G>T (n.*347G>T) c.349G>T (p.Gly117Cys) n.835G>T c.352G>T (p.Gly118Cys) c.346G>T (p.Gly116Cys) | dbSNP |
| 7 | g.44152285C= | CA1703637031 | GCK | c.*347G= (n.*347G=) c.349G= (p.Gly117=) n.835G= c.352G= (p.Gly118=) c.346G= (p.Gly116=) | |
| 7 | g.44152285C>G | CA367402585 | GCK | c.*347G>C (n.*347G>C) c.349G>C (p.Gly117Arg) n.835G>C c.352G>C (p.Gly118Arg) c.346G>C (p.Gly116Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44152285C>T | CA4239669 | GCK | c.*347G>A (n.*347G>A) c.349G>A (p.Gly117Ser) n.835G>A c.352G>A (p.Gly118Ser) c.346G>A (p.Gly116Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44152286G>A | CA4239670 | GCK | c.*346C>T (n.*346C>T) c.348C>T (p.Thr116=) n.834C>T c.351C>T (p.Thr117=) c.345C>T (p.Thr115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152286G>C | CA454610180 | GCK | c.*346C>G (n.*346C>G) c.348C>G (p.Thr116=) n.834C>G c.351C>G (p.Thr117=) c.345C>G (p.Thr115=) | gnomAD v4 |
| 7 | g.44152286G= | CA1703637032 | GCK | c.*346C= (n.*346C=) c.348C= (p.Thr116=) n.834C= c.351C= (p.Thr117=) c.345C= (p.Thr115=) | |
| 7 | g.44152286G>T | CA454610181 | GCK | c.*346C>A (n.*346C>A) c.348C>A (p.Thr116=) n.834C>A c.351C>A (p.Thr117=) c.345C>A (p.Thr115=) | |
| 7 | g.44152287G>A | CA367402590 | GCK | c.*345C>T (n.*345C>T) c.347C>T (p.Thr116Ile) n.833C>T c.350C>T (p.Thr117Ile) c.344C>T (p.Thr115Ile) | |
| 7 | g.44152287G>C | CA367402591 | GCK | c.*345C>G (n.*345C>G) c.347C>G (p.Thr116Ser) n.833C>G c.350C>G (p.Thr117Ser) c.344C>G (p.Thr115Ser) | |
| 7 | g.44152287G>T | CA367402592 | GCK | c.*345C>A (n.*345C>A) c.347C>A (p.Thr116Asn) n.833C>A c.350C>A (p.Thr117Asn) c.344C>A (p.Thr115Asn) | |
| 7 | g.44152288T>A | CA367402594 | GCK | c.*344A>T (n.*344A>T) c.346A>T (p.Thr116Ser) n.832A>T c.349A>T (p.Thr117Ser) c.343A>T (p.Thr115Ser) | |
| 7 | g.44152288T>C | CA367402595 | GCK | c.*344A>G (n.*344A>G) c.346A>G (p.Thr116Ala) n.832A>G c.349A>G (p.Thr117Ala) c.343A>G (p.Thr115Ala) | |
| 7 | g.44152288T>G | CA367402593 | GCK | c.*344A>C (n.*344A>C) c.346A>C (p.Thr116Pro) n.832A>C c.349A>C (p.Thr117Pro) c.343A>C (p.Thr115Pro) | |
| 7 | g.44152289C>A | CA367402596 | GCK | c.*343G>T (n.*343G>T) c.345G>T (p.Met115Ile) n.831G>T c.348G>T (p.Met116Ile) c.342G>T (p.Met114Ile) | |
| 7 | g.44152289C>G | CA367402598 | GCK | c.*343G>C (n.*343G>C) c.345G>C (p.Met115Ile) n.831G>C c.348G>C (p.Met116Ile) c.342G>C (p.Met114Ile) | |
| 7 | g.44152289C>T | CA367402599 | GCK | c.*343G>A (n.*343G>A) c.345G>A (p.Met115Ile) n.831G>A c.348G>A (p.Met116Ile) c.342G>A (p.Met114Ile) | |
| 7 | g.44152290A= | CA1703637033 | GCK | c.*342T= (n.*342T=) c.344T= (p.Met115=) n.830T= c.347T= (p.Met116=) c.341T= (p.Met114=) | |
| 7 | g.44152290A>C | CA367402602 | GCK | c.*342T>G (n.*342T>G) c.344T>G (p.Met115Arg) n.830T>G c.347T>G (p.Met116Arg) c.341T>G (p.Met114Arg) | |
| 7 | g.44152290A>G | CA4239671 | GCK | c.*342T>C (n.*342T>C) c.344T>C (p.Met115Thr) n.830T>C c.347T>C (p.Met116Thr) c.341T>C (p.Met114Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152290A>T | CA4239672 | GCK | c.*342T>A (n.*342T>A) c.344T>A (p.Met115Lys) n.830T>A c.347T>A (p.Met116Lys) c.341T>A (p.Met114Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44152290dup | CA2695202983 | GCK | c.*342dup (n.*342dup) c.344dup (p.Met115IlefsTer6) n.830dup c.347dup (p.Met116IlefsTer6) c.341dup (p.Met114IlefsTer6) | |
| 7 | g.44152291T>A | CA367402605 | GCK | c.*341A>T (n.*341A>T) c.343A>T (p.Met115Leu) n.829A>T c.346A>T (p.Met116Leu) c.340A>T (p.Met114Leu) | |
| 7 | g.44152291T>C | CA4239673 | GCK | c.*341A>G (n.*341A>G) c.343A>G (p.Met115Val) n.829A>G c.346A>G (p.Met116Val) c.340A>G (p.Met114Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152291T>G | CA367402606 | GCK | c.*341A>C (n.*341A>C) c.343A>C (p.Met115Leu) n.829A>C c.346A>C (p.Met116Leu) c.340A>C (p.Met114Leu) | |
| 7 | g.44152291T= | CA1703637034 | GCK | c.*341A= (n.*341A=) c.343A= (p.Met115=) n.829A= c.346A= (p.Met116=) c.340A= (p.Met114=) | |
| 7 | g.44152292G>A | CA4239674 | GCK | c.*340C>T (n.*340C>T) c.342C>T (p.Ala114=) n.828C>T c.345C>T (p.Ala115=) c.339C>T (p.Ala113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44152292G>C | CA454610184 | GCK | c.*340C>G (n.*340C>G) c.342C>G (p.Ala114=) n.828C>G c.345C>G (p.Ala115=) c.339C>G (p.Ala113=) | |
| 7 | g.44152292G= | CA1703637035 | GCK | c.*340C= (n.*340C=) c.342C= (p.Ala114=) n.828C= c.345C= (p.Ala115=) c.339C= (p.Ala113=) | |
| 7 | g.44152292G>T | CA454610185 | GCK | c.*340C>A (n.*340C>A) c.342C>A (p.Ala114=) n.828C>A c.345C>A (p.Ala115=) c.339C>A (p.Ala113=) | COSMIC COSMIC COSMIC |
| 7 | g.44152293G>A | CA367402611 | GCK | c.*339C>T (n.*339C>T) c.341C>T (p.Ala114Val) n.827C>T c.344C>T (p.Ala115Val) c.338C>T (p.Ala113Val) | |
| 7 | g.44152293G>C | CA367402612 | GCK | c.*339C>G (n.*339C>G) c.341C>G (p.Ala114Gly) n.827C>G c.344C>G (p.Ala115Gly) c.338C>G (p.Ala113Gly) | |
| 7 | g.44152293G>T | CA367402614 | GCK | c.*339C>A (n.*339C>A) c.341C>A (p.Ala114Asp) n.827C>A c.344C>A (p.Ala115Asp) c.338C>A (p.Ala113Asp) | |
| 7 | g.44152294C>A | CA367402619 | GCK | c.*338G>T (n.*338G>T) c.340G>T (p.Ala114Ser) n.826G>T c.343G>T (p.Ala115Ser) c.337G>T (p.Ala113Ser) | |
| 7 | g.44152294C= | CA1703637036 | GCK | c.*338G= (n.*338G=) c.340G= (p.Ala114=) n.826G= c.343G= (p.Ala115=) c.337G= (p.Ala113=) | |
| 7 | g.44152294C>G | CA367402617 | GCK | c.*338G>C (n.*338G>C) c.340G>C (p.Ala114Pro) n.826G>C c.343G>C (p.Ala115Pro) c.337G>C (p.Ala113Pro) |