UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153287T>G | CA574226423 | GCK | c.*206+14A>C (n.*206+14A>C) c.208+14A>C (n.208+14A>C) n.694+14A>C c.211+14A>C (n.211+14A>C) c.205+14A>C (n.205+14A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153287T= | CA1703637500 | GCK | c.*206+14A= (n.*206+14A=) c.208+14A= (n.208+14A=) n.694+14A= c.211+14A= (n.211+14A=) c.205+14A= (n.205+14A=) | |
| 7 | g.44153289A>G | CA2682576716 | GCK | c.*206+12T>C (n.*206+12T>C) c.208+12T>C (n.208+12T>C) n.694+12T>C c.211+12T>C (n.211+12T>C) c.205+12T>C (n.205+12T>C) | gnomAD v4 |
| 7 | g.44153290C= | CA1703637501 | GCK | c.*206+11G= (n.*206+11G=) c.208+11G= (n.208+11G=) n.694+11G= c.211+11G= (n.211+11G=) c.205+11G= (n.205+11G=) | |
| 7 | g.44153290C>T | CA209625 | GCK | c.*206+11G>A (n.*206+11G>A) c.208+11G>A (n.208+11G>A) n.694+11G>A c.211+11G>A (n.211+11G>A) c.205+11G>A (n.205+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153291C= | CA1703637502 | GCK | c.*206+10G= (n.*206+10G=) c.208+10G= (n.208+10G=) n.694+10G= c.211+10G= (n.211+10G=) c.205+10G= (n.205+10G=) | |
| 7 | g.44153291C>G | CA454610443 | GCK | c.*206+10G>C (n.*206+10G>C) c.208+10G>C (n.208+10G>C) n.694+10G>C c.211+10G>C (n.211+10G>C) c.205+10G>C (n.205+10G>C) | COSMIC |
| 7 | g.44153291C>T | CA574226424 | GCK | c.*206+10G>A (n.*206+10G>A) c.208+10G>A (n.208+10G>A) n.694+10G>A c.211+10G>A (n.211+10G>A) c.205+10G>A (n.205+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153292A= | CA1703637503 | GCK | c.*206+9T= (n.*206+9T=) c.208+9T= (n.208+9T=) n.694+9T= c.211+9T= (n.211+9T=) c.205+9T= (n.205+9T=) | |
| 7 | g.44153292A>C | CA574226425 | GCK | c.*206+9T>G (n.*206+9T>G) c.208+9T>G (n.208+9T>G) n.694+9T>G c.211+9T>G (n.211+9T>G) c.205+9T>G (n.205+9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153292A>G | CA4239704 | GCK | c.*206+9T>C (n.*206+9T>C) c.208+9T>C (n.208+9T>C) n.694+9T>C c.211+9T>C (n.211+9T>C) c.205+9T>C (n.205+9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153292A>T | CA213769 | GCK | c.*206+9T>A (n.*206+9T>A) c.208+9T>A (n.208+9T>A) n.694+9T>A c.211+9T>A (n.211+9T>A) c.205+9T>A (n.205+9T>A) | ClinVar dbSNP |
| 7 | g.44153293T>C | CA2682576721 | GCK | c.*206+8A>G (n.*206+8A>G) c.208+8A>G (n.208+8A>G) n.694+8A>G c.211+8A>G (n.211+8A>G) c.205+8A>G (n.205+8A>G) | gnomAD v4 |
| 7 | g.44153293T>G | CA157919931 | GCK | c.*206+8A>C (n.*206+8A>C) c.208+8A>C (n.208+8A>C) n.694+8A>C c.211+8A>C (n.211+8A>C) c.205+8A>C (n.205+8A>C) | dbSNP gnomAD v4 |
| 7 | g.44153293T= | CA1703637504 | GCK | c.*206+8A= (n.*206+8A=) c.208+8A= (n.208+8A=) n.694+8A= c.211+8A= (n.211+8A=) c.205+8A= (n.205+8A=) | |
| 7 | g.44153294G>A | CA2714453468 | GCK | c.*206+7C>T (n.*206+7C>T) c.208+7C>T (n.208+7C>T) n.694+7C>T c.211+7C>T (n.211+7C>T) c.205+7C>T (n.205+7C>T) | dbSNP |
| 7 | g.44153294G>T | CA2682576722 | GCK | c.*206+7C>A (n.*206+7C>A) c.208+7C>A (n.208+7C>A) n.694+7C>A c.211+7C>A (n.211+7C>A) c.205+7C>A (n.205+7C>A) | gnomAD v4 |
| 7 | g.44153295T>C | CA1703637506 | GCK | c.*206+6A>G (n.*206+6A>G) c.208+6A>G (n.208+6A>G) n.694+6A>G c.211+6A>G (n.211+6A>G) c.205+6A>G (n.205+6A>G) | dbSNP gnomAD v4 |
| 7 | g.44153295T= | CA1703637505 | GCK | c.*206+6A= (n.*206+6A=) c.208+6A= (n.208+6A=) n.694+6A= c.211+6A= (n.211+6A=) c.205+6A= (n.205+6A=) | |
| 7 | g.44153296G>A | CA838783501 | GCK | c.*206+5C>T (n.*206+5C>T) c.208+5C>T (n.208+5C>T) n.694+5C>T c.211+5C>T (n.211+5C>T) c.205+5C>T (n.205+5C>T) | dbSNP gnomAD v4 |
| 7 | g.44153296G= | CA1703637507 | GCK | c.*206+5C= (n.*206+5C=) c.208+5C= (n.208+5C=) n.694+5C= c.211+5C= (n.211+5C=) c.205+5C= (n.205+5C=) | |
| 7 | g.44153296G>T | CA2682576724 | GCK | c.*206+5C>A (n.*206+5C>A) c.208+5C>A (n.208+5C>A) n.694+5C>A c.211+5C>A (n.211+5C>A) c.205+5C>A (n.205+5C>A) | gnomAD v4 |
| 7 | g.44153297G>A | CA2578878540 | GCK | c.*206+4C>T (n.*206+4C>T) c.208+4C>T (n.208+4C>T) n.694+4C>T c.211+4C>T (n.211+4C>T) c.205+4C>T (n.205+4C>T) | |
| 7 | g.44153297G>C | CA574226426 | GCK | c.*206+4C>G (n.*206+4C>G) c.208+4C>G (n.208+4C>G) n.694+4C>G c.211+4C>G (n.211+4C>G) c.205+4C>G (n.205+4C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153297G= | CA1703637508 | GCK | c.*206+4C= (n.*206+4C=) c.208+4C= (n.208+4C=) n.694+4C= c.211+4C= (n.211+4C=) c.205+4C= (n.205+4C=) | |
| 7 | g.44153298T>A | CA500003 | GCK | c.*206+3A>T (n.*206+3A>T) c.208+3A>T (n.208+3A>T) n.694+3A>T c.211+3A>T (n.211+3A>T) c.205+3A>T (n.205+3A>T) | gnomAD v4 |
| 7 | g.44153298T>C | CA2695203014 | GCK | c.*206+3A>G (n.*206+3A>G) c.208+3A>G (n.208+3A>G) n.694+3A>G c.211+3A>G (n.211+3A>G) c.205+3A>G (n.205+3A>G) | |
| 7 | g.44153299A>C | CA367403190 | GCK | c.*206+2T>G (n.*206+2T>G) c.208+2T>G (n.208+2T>G) n.694+2T>G c.211+2T>G (n.211+2T>G) c.205+2T>G (n.205+2T>G) | |
| 7 | g.44153299A>G | CA367403194 | GCK | c.*206+2T>C (n.*206+2T>C) c.208+2T>C (n.208+2T>C) n.694+2T>C c.211+2T>C (n.211+2T>C) c.205+2T>C (n.205+2T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153299A>T | CA367403192 | GCK | c.*206+2T>A (n.*206+2T>A) c.208+2T>A (n.208+2T>A) n.694+2T>A c.211+2T>A (n.211+2T>A) c.205+2T>A (n.205+2T>A) | |
| 7 | g.44153300C>A | CA367403195 | GCK | c.*206+1G>T (n.*206+1G>T) c.208+1G>T (n.208+1G>T) n.694+1G>T c.211+1G>T (n.211+1G>T) c.205+1G>T (n.205+1G>T) | |
| 7 | g.44153300C= | CA1703637509 | GCK | c.*206+1G= (n.*206+1G=) c.208+1G= (n.208+1G=) n.694+1G= c.211+1G= (n.211+1G=) c.205+1G= (n.205+1G=) | |
| 7 | g.44153300C>G | CA367403196 | GCK | c.*206+1G>C (n.*206+1G>C) c.208+1G>C (n.208+1G>C) n.694+1G>C c.211+1G>C (n.211+1G>C) c.205+1G>C (n.205+1G>C) | |
| 7 | g.44153300C>T | CA367403198 | GCK | c.*206+1G>A (n.*206+1G>A) c.208+1G>A (n.208+1G>A) n.694+1G>A c.211+1G>A (n.211+1G>A) c.205+1G>A (n.205+1G>A) | ClinVar dbSNP |
| 7 | g.44153301C>A | CA367403199 | GCK | c.*206G>T (n.*206G>T) c.208G>T (p.Glu70Ter) n.694G>T c.211G>T (p.Glu71Ter) c.205G>T (p.Glu69Ter) | |
| 7 | g.44153301C>G | CA367403201 | GCK | c.*206G>C (n.*206G>C) c.208G>C (p.Glu70Gln) n.694G>C c.211G>C (p.Glu71Gln) c.205G>C (p.Glu69Gln) | ClinVar |
| 7 | g.44153301C>T | CA367403203 | GCK | c.*206G>A (n.*206G>A) c.208G>A (p.Glu70Lys) n.694G>A c.211G>A (p.Glu71Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 7 | g.44153302T>A | CA454610445 | GCK | c.*205A>T (n.*205A>T) c.207A>T (p.Ser69=) n.693A>T c.210A>T (p.Ser70=) c.204A>T (p.Ser68=) | |
| 7 | g.44153302T>C | CA4239705 | GCK | c.*205A>G (n.*205A>G) c.207A>G (p.Ser69=) n.693A>G c.210A>G (p.Ser70=) c.204A>G (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153302T>G | CA454610446 | GCK | c.*205A>C (n.*205A>C) c.207A>C (p.Ser69=) n.693A>C c.210A>C (p.Ser70=) c.204A>C (p.Ser68=) | |
| 7 | g.44153302T= | CA1703637510 | GCK | c.*205A= (n.*205A=) c.207A= (p.Ser69=) n.693A= c.210A= (p.Ser70=) c.204A= (p.Ser68=) | |
| 7 | g.44153303G>A | CA367403205 | GCK | c.*204C>T (n.*204C>T) c.206C>T (p.Ser69Leu) n.692C>T c.209C>T (p.Ser70Leu) c.203C>T (p.Ser68Leu) | |
| 7 | g.44153303G>C | CA367403207 | GCK | c.*204C>G (n.*204C>G) c.206C>G (p.Ser69Ter) n.692C>G c.209C>G (p.Ser70Ter) c.203C>G (p.Ser68Ter) | |
| 7 | g.44153303G>T | CA367403209 | GCK | c.*204C>A (n.*204C>A) c.206C>A (p.Ser69Ter) n.692C>A c.209C>A (p.Ser70Ter) c.203C>A (p.Ser68Ter) | |
| 7 | g.44153304A>C | CA367403215 | GCK | c.*203T>G (n.*203T>G) c.205T>G (p.Ser69Ala) n.691T>G c.208T>G (p.Ser70Ala) c.202T>G (p.Ser68Ala) | |
| 7 | g.44153304A>G | CA367403213 | GCK | c.*203T>C (n.*203T>C) c.205T>C (p.Ser69Pro) n.691T>C c.208T>C (p.Ser70Pro) c.202T>C (p.Ser68Pro) | |
| 7 | g.44153304A>T | CA367403211 | GCK | c.*203T>A (n.*203T>A) c.205T>A (p.Ser69Thr) n.691T>A c.208T>A (p.Ser70Thr) c.202T>A (p.Ser68Thr) | |
| 7 | g.44153305G>A | CA454610451 | GCK | c.*202C>T (n.*202C>T) c.204C>T (p.Gly68=) n.690C>T c.207C>T (p.Gly69=) c.201C>T (p.Gly67=) | |
| 7 | g.44153305G>C | CA454610452 | GCK | c.*202C>G (n.*202C>G) c.204C>G (p.Gly68=) n.690C>G c.207C>G (p.Gly69=) c.201C>G (p.Gly67=) | |
| 7 | g.44153305G>T | CA454610454 | GCK | c.*202C>A (n.*202C>A) c.204C>A (p.Gly68=) n.690C>A c.207C>A (p.Gly69=) c.201C>A (p.Gly67=) | |
| 7 | g.44153306C>A | CA367403217 | GCK | c.*201G>T (n.*201G>T) c.203G>T (p.Gly68Val) n.689G>T c.206G>T (p.Gly69Val) c.200G>T (p.Gly67Val) | |
| 7 | g.44153306C= | CA1703637511 | GCK | c.*201G= (n.*201G=) c.203G= (p.Gly68=) n.689G= c.206G= (p.Gly69=) c.200G= (p.Gly67=) | |
| 7 | g.44153306C>G | CA367403218 | GCK | c.*201G>C (n.*201G>C) c.203G>C (p.Gly68Ala) n.689G>C c.206G>C (p.Gly69Ala) c.200G>C (p.Gly67Ala) | |
| 7 | g.44153306C>T | CA157919943 | GCK | c.*201G>A (n.*201G>A) c.203G>A (p.Gly68Asp) n.689G>A c.206G>A (p.Gly69Asp) c.200G>A (p.Gly67Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153307C>A | CA367403220 | GCK | c.*200G>T (n.*200G>T) c.202G>T (p.Gly68Cys) n.688G>T c.205G>T (p.Gly69Cys) c.199G>T (p.Gly67Cys) | |
| 7 | g.44153307C>G | CA367403222 | GCK | c.*200G>C (n.*200G>C) c.202G>C (p.Gly68Arg) n.688G>C c.205G>C (p.Gly69Arg) c.199G>C (p.Gly67Arg) | |
| 7 | g.44153307C>T | CA367403223 | GCK | c.*200G>A (n.*200G>A) c.202G>A (p.Gly68Ser) n.688G>A c.205G>A (p.Gly69Ser) c.199G>A (p.Gly67Ser) | COSMIC COSMIC |
| 7 | g.44153308T>A | CA367403225 | GCK | c.*199A>T (n.*199A>T) c.201A>T (p.Glu67Asp) n.687A>T c.204A>T (p.Glu68Asp) c.198A>T (p.Glu66Asp) | |
| 7 | g.44153308T>C | CA454610459 | GCK | c.*199A>G (n.*199A>G) c.201A>G (p.Glu67=) n.687A>G c.204A>G (p.Glu68=) c.198A>G (p.Glu66=) | |
| 7 | g.44153308T>G | CA367403227 | GCK | c.*199A>C (n.*199A>C) c.201A>C (p.Glu67Asp) n.687A>C c.204A>C (p.Glu68Asp) c.198A>C (p.Glu66Asp) | |
| 7 | g.44153309T>A | CA367403229 | GCK | c.*198A>T (n.*198A>T) c.200A>T (p.Glu67Val) n.686A>T c.203A>T (p.Glu68Val) c.197A>T (p.Glu66Val) | |
| 7 | g.44153309T>C | CA367403230 | GCK | c.*198A>G (n.*198A>G) c.200A>G (p.Glu67Gly) n.686A>G c.203A>G (p.Glu68Gly) c.197A>G (p.Glu66Gly) | dbSNP |
| 7 | g.44153309T>G | CA367403232 | GCK | c.*198A>C (n.*198A>C) c.200A>C (p.Glu67Ala) n.686A>C c.203A>C (p.Glu68Ala) c.197A>C (p.Glu66Ala) | |
| 7 | g.44153309T= | CA1703637512 | GCK | c.*198A= (n.*198A=) c.200A= (p.Glu67=) n.686A= c.203A= (p.Glu68=) c.197A= (p.Glu66=) | |
| 7 | g.44153310C>A | CA367403234 | GCK | c.*197G>T (n.*197G>T) c.199G>T (p.Glu67Ter) n.685G>T c.202G>T (p.Glu68Ter) c.196G>T (p.Glu66Ter) | |
| 7 | g.44153310C>G | CA367403236 | GCK | c.*197G>C (n.*197G>C) c.199G>C (p.Glu67Gln) n.685G>C c.202G>C (p.Glu68Gln) c.196G>C (p.Glu66Gln) | |
| 7 | g.44153310C>T | CA367403237 | GCK | c.*197G>A (n.*197G>A) c.199G>A (p.Glu67Lys) n.685G>A c.202G>A (p.Glu68Lys) c.196G>A (p.Glu66Lys) | |
| 7 | g.44153311T>A | CA454610467 | GCK | c.*196A>T (n.*196A>T) c.198A>T (p.Pro66=) n.684A>T c.201A>T (p.Pro67=) c.195A>T (p.Pro65=) | |
| 7 | g.44153311T>C | CA10626144 | GCK | c.*196A>G (n.*196A>G) c.198A>G (p.Pro66=) n.684A>G c.201A>G (p.Pro67=) c.195A>G (p.Pro65=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153311T>G | CA454610466 | GCK | c.*196A>C (n.*196A>C) c.198A>C (p.Pro66=) n.684A>C c.201A>C (p.Pro67=) c.195A>C (p.Pro65=) | |
| 7 | g.44153311T= | CA1703637513 | GCK | c.*196A= (n.*196A=) c.198A= (p.Pro66=) n.684A= c.201A= (p.Pro67=) c.195A= (p.Pro65=) | |
| 7 | g.44153312G>A | CA367403239 | GCK | c.*195C>T (n.*195C>T) c.197C>T (p.Pro66Leu) n.683C>T c.200C>T (p.Pro67Leu) c.194C>T (p.Pro65Leu) | |
| 7 | g.44153312G>C | CA367403241 | GCK | c.*195C>G (n.*195C>G) c.197C>G (p.Pro66Arg) n.683C>G c.200C>G (p.Pro67Arg) c.194C>G (p.Pro65Arg) | |
| 7 | g.44153312G>T | CA367403242 | GCK | c.*195C>A (n.*195C>A) c.197C>A (p.Pro66Gln) n.683C>A c.200C>A (p.Pro67Gln) c.194C>A (p.Pro65Gln) | |
| 7 | g.44153313G>A | CA367403244 | GCK | c.*194C>T (n.*194C>T) c.196C>T (p.Pro66Ser) n.682C>T c.199C>T (p.Pro67Ser) c.193C>T (p.Pro65Ser) | COSMIC COSMIC COSMIC |
| 7 | g.44153313G>C | CA367403245 | GCK | c.*194C>G (n.*194C>G) c.196C>G (p.Pro66Ala) n.682C>G c.199C>G (p.Pro67Ala) c.193C>G (p.Pro65Ala) | |
| 7 | g.44153313G= | CA1703637514 | GCK | c.*194C= (n.*194C=) c.196C= (p.Pro66=) n.682C= c.199C= (p.Pro67=) c.193C= (p.Pro65=) | |
| 7 | g.44153313G>T | CA367403247 | GCK | c.*194C>A (n.*194C>A) c.196C>A (p.Pro66Thr) n.682C>A c.199C>A (p.Pro67Thr) c.193C>A (p.Pro65Thr) | |
| 7 | g.44153314G>A | CA454610475 | GCK | c.*193C>T (n.*193C>T) c.195C>T (p.Thr65=) n.681C>T c.198C>T (p.Thr66=) c.192C>T (p.Thr64=) | |
| 7 | g.44153314G>C | CA454610477 | GCK | c.*193C>G (n.*193C>G) c.195C>G (p.Thr65=) n.681C>G c.198C>G (p.Thr66=) c.192C>G (p.Thr64=) | |
| 7 | g.44153314G>T | CA454610474 | GCK | c.*193C>A (n.*193C>A) c.195C>A (p.Thr65=) n.681C>A c.198C>A (p.Thr66=) c.192C>A (p.Thr64=) | |
| 7 | g.44153316_44153318dup | CA1703637515 | GCK | c.*191_*193dup (n.*191_*193dup) c.193_195dup (p.Thr65_Pro66insThr) n.679_681dup c.196_198dup (p.Thr66_Pro67insThr) c.190_192dup (p.Thr64_Pro65insThr) | dbSNP |
| 7 | g.44153315G>A | CA367403249 | GCK | c.*192C>T (n.*192C>T) c.194C>T (p.Thr65Ile) n.680C>T c.197C>T (p.Thr66Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153315G>C | CA367403251 | GCK | c.*192C>G (n.*192C>G) c.194C>G (p.Thr65Ser) n.680C>G c.197C>G (p.Thr66Ser) c.191C>G (p.Thr64Ser) | |
| 7 | g.44153315G>T | CA367403252 | GCK | c.*192C>A (n.*192C>A) c.194C>A (p.Thr65Asn) n.680C>A c.197C>A (p.Thr66Asn) c.191C>A (p.Thr64Asn) | gnomAD v4 |
| 7 | g.44153316T>A | CA501070 | GCK | c.*191A>T (n.*191A>T) c.193A>T (p.Thr65Ser) n.679A>T c.196A>T (p.Thr66Ser) c.190A>T (p.Thr64Ser) | |
| 7 | g.44153316T>C | CA367403255 | GCK | c.*191A>G (n.*191A>G) c.193A>G (p.Thr65Ala) n.679A>G c.196A>G (p.Thr66Ala) c.190A>G (p.Thr64Ala) | |
| 7 | g.44153316T>G | CA501054 | GCK | c.*191A>C (n.*191A>C) c.193A>C (p.Thr65Pro) n.679A>C c.196A>C (p.Thr66Pro) c.190A>C (p.Thr64Pro) | |
| 7 | g.44153317G>A | CA454610484 | GCK | c.*190C>T (n.*190C>T) c.192C>T (p.Ser64=) n.678C>T c.195C>T (p.Ser65=) c.189C>T (p.Ser63=) | ClinVar gnomAD v4 |
| 7 | g.44153317G>C | CA454610488 | GCK | c.*190C>G (n.*190C>G) c.192C>G (p.Ser64=) n.678C>G c.195C>G (p.Ser65=) c.189C>G (p.Ser63=) | |
| 7 | g.44153317G>T | CA454610489 | GCK | c.*190C>A (n.*190C>A) c.192C>A (p.Ser64=) n.678C>A c.195C>A (p.Ser65=) c.189C>A (p.Ser63=) | |
| 7 | g.44153318G>A | CA367403261 | GCK | c.*189C>T (n.*189C>T) c.191C>T (p.Ser64Phe) n.677C>T c.194C>T (p.Ser65Phe) c.188C>T (p.Ser63Phe) | COSMIC COSMIC |
| 7 | g.44153318G>C | CA367403259 | GCK | c.*189C>G (n.*189C>G) c.191C>G (p.Ser64Cys) n.677C>G c.194C>G (p.Ser65Cys) c.188C>G (p.Ser63Cys) | |
| 7 | g.44153318G>T | CA367403257 | GCK | c.*189C>A (n.*189C>A) c.191C>A (p.Ser64Tyr) n.677C>A c.194C>A (p.Ser65Tyr) c.188C>A (p.Ser63Tyr) | |
| 7 | g.44153319A>C | CA367403263 | GCK | c.*188T>G (n.*188T>G) c.190T>G (p.Ser64Ala) n.676T>G c.193T>G (p.Ser65Ala) c.187T>G (p.Ser63Ala) | |
| 7 | g.44153319A>G | CA367403266 | GCK | c.*188T>C (n.*188T>C) c.190T>C (p.Ser64Pro) n.676T>C c.193T>C (p.Ser65Pro) c.187T>C (p.Ser63Pro) | |
| 7 | g.44153319A>T | CA367403264 | GCK | c.*188T>A (n.*188T>A) c.190T>A (p.Ser64Thr) n.676T>A c.193T>A (p.Ser65Thr) c.187T>A (p.Ser63Thr) | |
| 7 | g.44153320G>A | CA454610494 | GCK | c.*187C>T (n.*187C>T) c.189C>T (p.Arg63=) n.675C>T c.192C>T (p.Arg64=) c.186C>T (p.Arg62=) | dbSNP gnomAD v2 |
| 7 | g.44153320G>C | CA454610492 | GCK | c.*187C>G (n.*187C>G) c.189C>G (p.Arg63=) n.675C>G c.192C>G (p.Arg64=) c.186C>G (p.Arg62=) | |
| 7 | g.44153320G= | CA1703637516 | GCK | c.*187C= (n.*187C=) c.189C= (p.Arg63=) n.675C= c.192C= (p.Arg64=) c.186C= (p.Arg62=) | |
| 7 | g.44153320G>T | CA454610493 | GCK | c.*187C>A (n.*187C>A) c.189C>A (p.Arg63=) n.675C>A c.192C>A (p.Arg64=) c.186C>A (p.Arg62=) | dbSNP |
| 7 | g.44153321C>A | CA367403268 | GCK | c.*186G>T (n.*186G>T) c.188G>T (p.Arg63Leu) n.674G>T c.191G>T (p.Arg64Leu) c.185G>T (p.Arg62Leu) | ClinVar dbSNP |
| 7 | g.44153321C= | CA1703637517 | GCK | c.*186G= (n.*186G=) c.188G= (p.Arg63=) n.674G= c.191G= (p.Arg64=) c.185G= (p.Arg62=) | |
| 7 | g.44153321C>G | CA367403270 | GCK | c.*186G>C (n.*186G>C) c.188G>C (p.Arg63Pro) n.674G>C c.191G>C (p.Arg64Pro) c.185G>C (p.Arg62Pro) | |
| 7 | g.44153321C>T | CA4239706 | GCK | c.*186G>A (n.*186G>A) c.188G>A (p.Arg63His) n.674G>A c.191G>A (p.Arg64His) c.185G>A (p.Arg62His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153322G>A | CA4239707 | GCK | c.*185C>T (n.*185C>T) c.187C>T (p.Arg63Cys) n.673C>T c.190C>T (p.Arg64Cys) c.184C>T (p.Arg62Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153322G>C | CA367403273 | GCK | c.*185C>G (n.*185C>G) c.187C>G (p.Arg63Gly) n.673C>G c.190C>G (p.Arg64Gly) c.184C>G (p.Arg62Gly) | |
| 7 | g.44153322G= | CA1703637518 | GCK | c.*185C= (n.*185C=) c.187C= (p.Arg63=) n.673C= c.190C= (p.Arg64=) c.184C= (p.Arg62=) | |
| 7 | g.44153322G>T | CA367403275 | GCK | c.*185C>A (n.*185C>A) c.187C>A (p.Arg63Ser) n.673C>A c.190C>A (p.Arg64Ser) c.184C>A (p.Arg62Ser) | |
| 7 | g.44153323del | CA2695203015 | GCK | c.*184del (n.*184del) c.186del (p.Arg63AlafsTer24) n.672del c.189del (p.Arg64AlafsTer24) c.183del (p.Arg62AlafsTer24) | |
| 7 | g.44153323C>A | CA454610505 | GCK | c.*184G>T (n.*184G>T) c.186G>T (p.Val62=) n.672G>T c.189G>T (p.Val63=) c.183G>T (p.Val61=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153323C= | CA1703637519 | GCK | c.*184G= (n.*184G=) c.186G= (p.Val62=) n.672G= c.189G= (p.Val63=) c.183G= (p.Val61=) | |
| 7 | g.44153323C>G | CA454610507 | GCK | c.*184G>C (n.*184G>C) c.186G>C (p.Val62=) n.672G>C c.189G>C (p.Val63=) c.183G>C (p.Val61=) | |
| 7 | g.44153323C>T | CA454610508 | GCK | c.*184G>A (n.*184G>A) c.186G>A (p.Val62=) n.672G>A c.189G>A (p.Val63=) c.183G>A (p.Val61=) | |
| 7 | g.44153324A= | CA1703637520 | GCK | c.*183T= (n.*183T=) c.185T= (p.Val62=) n.671T= c.188T= (p.Val63=) c.182T= (p.Val61=) | |
| 7 | g.44153324A>C | CA367403277 | GCK | c.*183T>G (n.*183T>G) c.185T>G (p.Val62Gly) n.671T>G c.188T>G (p.Val63Gly) c.182T>G (p.Val61Gly) | |
| 7 | g.44153324A>G | CA367403278 | GCK | c.*183T>C (n.*183T>C) c.185T>C (p.Val62Ala) n.671T>C c.188T>C (p.Val63Ala) c.182T>C (p.Val61Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153324A>T | CA367403280 | GCK | c.*183T>A (n.*183T>A) c.185T>A (p.Val62Glu) n.671T>A c.188T>A (p.Val63Glu) c.182T>A (p.Val61Glu) | |
| 7 | g.44153325C>A | CA367403282 | GCK | c.*182G>T (n.*182G>T) c.184G>T (p.Val62Leu) n.670G>T c.187G>T (p.Val63Leu) c.181G>T (p.Val61Leu) | |
| 7 | g.44153325C= | CA1703637521 | GCK | c.*182G= (n.*182G=) c.184G= (p.Val62=) n.670G= c.187G= (p.Val63=) c.181G= (p.Val61=) | |
| 7 | g.44153325C>G | CA367403284 | GCK | c.*182G>C (n.*182G>C) c.184G>C (p.Val62Leu) n.670G>C c.187G>C (p.Val63Leu) c.181G>C (p.Val61Leu) | |
| 7 | g.44153325C>T | CA16618472 | GCK | c.*182G>A (n.*182G>A) c.184G>A (p.Val62Met) n.670G>A c.187G>A (p.Val63Met) c.181G>A (p.Val61Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326G>A | CA4239708 | GCK | c.*181C>T (n.*181C>T) c.183C>T (p.Tyr61=) n.669C>T c.186C>T (p.Tyr62=) c.180C>T (p.Tyr60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153326G>C | CA367403286 | GCK | c.*181C>G (n.*181C>G) c.183C>G (p.Tyr61Ter) n.669C>G c.186C>G (p.Tyr62Ter) c.180C>G (p.Tyr60Ter) | |
| 7 | g.44153326G= | CA1703637522 | GCK | c.*181C= (n.*181C=) c.183C= (p.Tyr61=) n.669C= c.186C= (p.Tyr62=) c.180C= (p.Tyr60=) | |
| 7 | g.44153326G>T | CA367403288 | GCK | c.*181C>A (n.*181C>A) c.183C>A (p.Tyr61Ter) n.669C>A c.186C>A (p.Tyr62Ter) c.180C>A (p.Tyr60Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326_44153328delinsTTG | CA2695203017 | GCK | c.*179_*181delinsCAA (n.*179_*181delinsCAA) c.181_183delinsCAA (p.Tyr61Gln) n.667_669delinsCAA c.184_186delinsCAA (p.Tyr62Gln) c.178_180delinsCAA (p.Tyr60Gln) | |
| 7 | g.44153327T>A | CA367403290 | GCK | c.*180A>T (n.*180A>T) c.182A>T (p.Tyr61Phe) n.668A>T c.185A>T (p.Tyr62Phe) c.179A>T (p.Tyr60Phe) | |
| 7 | g.44153327T>C | CA367403292 | GCK | c.*180A>G (n.*180A>G) c.182A>G (p.Tyr61Cys) n.668A>G c.185A>G (p.Tyr62Cys) c.179A>G (p.Tyr60Cys) | |
| 7 | g.44153327T>G | CA367403293 | GCK | c.*180A>C (n.*180A>C) c.182A>C (p.Tyr61Ser) n.668A>C c.185A>C (p.Tyr62Ser) c.179A>C (p.Tyr60Ser) | |
| 7 | g.44153328A>C | CA367403295 | GCK | c.*179T>G (n.*179T>G) c.181T>G (p.Tyr61Asp) n.667T>G c.184T>G (p.Tyr62Asp) c.178T>G (p.Tyr60Asp) | |
| 7 | g.44153328A>G | CA367403296 | GCK | c.*179T>C (n.*179T>C) c.181T>C (p.Tyr61His) n.667T>C c.184T>C (p.Tyr62His) c.178T>C (p.Tyr60His) | |
| 7 | g.44153328A>T | CA367403298 | GCK | c.*179T>A (n.*179T>A) c.181T>A (p.Tyr61Asn) n.667T>A c.184T>A (p.Tyr62Asn) c.178T>A (p.Tyr60Asn) | ClinVar dbSNP |
| 7 | g.44153329G>A | CA454610518 | GCK | c.*178C>T (n.*178C>T) c.180C>T (p.Thr60=) n.666C>T c.183C>T (p.Thr61=) c.177C>T (p.Thr59=) | gnomAD v4 |
| 7 | g.44153329G>C | CA454610519 | GCK | c.*178C>G (n.*178C>G) c.180C>G (p.Thr60=) n.666C>G c.183C>G (p.Thr61=) c.177C>G (p.Thr59=) | |
| 7 | g.44153329G>T | CA454610520 | GCK | c.*178C>A (n.*178C>A) c.180C>A (p.Thr60=) n.666C>A c.183C>A (p.Thr61=) c.177C>A (p.Thr59=) | |
| 7 | g.44153331_44153334del | CA2682576749 | GCK | c.*175_*178del (n.*175_*178del) c.177_180del (p.Tyr61CysfsTer25) n.663_666del c.180_183del (p.Tyr62CysfsTer25) c.174_177del (p.Tyr60CysfsTer25) | gnomAD v4 |
| 7 | g.44153330G>A | CA4239709 | GCK | c.*177C>T (n.*177C>T) c.179C>T (p.Thr60Ile) n.665C>T c.182C>T (p.Thr61Ile) c.176C>T (p.Thr59Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153330G>C | CA367403301 | GCK | c.*177C>G (n.*177C>G) c.179C>G (p.Thr60Ser) n.665C>G c.182C>G (p.Thr61Ser) c.176C>G (p.Thr59Ser) | |
| 7 | g.44153330G= | CA1703637523 | GCK | c.*177C= (n.*177C=) c.179C= (p.Thr60=) n.665C= c.182C= (p.Thr61=) c.176C= (p.Thr59=) | |
| 7 | g.44153330G>T | CA367403302 | GCK | c.*177C>A (n.*177C>A) c.179C>A (p.Thr60Asn) n.665C>A c.182C>A (p.Thr61Asn) c.176C>A (p.Thr59Asn) | |
| 7 | g.44153331T>A | CA367403303 | GCK | c.*176A>T (n.*176A>T) c.178A>T (p.Thr60Ser) n.664A>T c.181A>T (p.Thr61Ser) c.175A>T (p.Thr59Ser) | |
| 7 | g.44153331T>C | CA367403304 | GCK | c.*176A>G (n.*176A>G) c.178A>G (p.Thr60Ala) n.664A>G c.181A>G (p.Thr61Ala) c.175A>G (p.Thr59Ala) | gnomAD v4 |
| 7 | g.44153331T>G | CA367403305 | GCK | c.*176A>C (n.*176A>C) c.178A>C (p.Thr60Pro) n.664A>C c.181A>C (p.Thr61Pro) c.175A>C (p.Thr59Pro) | dbSNP gnomAD v4 |
| 7 | g.44153331T= | CA1703637524 | GCK | c.*176A= (n.*176A=) c.178A= (p.Thr60=) n.664A= c.181A= (p.Thr61=) c.175A= (p.Thr59=) | |
| 7 | g.44153332G>A | CA454610523 | GCK | c.*175C>T (n.*175C>T) c.177C>T (p.Pro59=) n.663C>T c.180C>T (p.Pro60=) c.174C>T (p.Pro58=) | dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153332G>C | CA454610524 | GCK | c.*175C>G (n.*175C>G) c.177C>G (p.Pro59=) n.663C>G c.180C>G (p.Pro60=) c.174C>G (p.Pro58=) | |
| 7 | g.44153332G= | CA1703637525 | GCK | c.*175C= (n.*175C=) c.177C= (p.Pro59=) n.663C= c.180C= (p.Pro60=) c.174C= (p.Pro58=) | |
| 7 | g.44153332G>T | CA4239710 | GCK | c.*175C>A (n.*175C>A) c.177C>A (p.Pro59=) n.663C>A c.180C>A (p.Pro60=) c.174C>A (p.Pro58=) | dbSNP ExAC |
| 7 | g.44153333G>A | CA367403308 | GCK | c.*174C>T (n.*174C>T) c.176C>T (p.Pro59Leu) n.662C>T c.179C>T (p.Pro60Leu) c.173C>T (p.Pro58Leu) | |
| 7 | g.44153333G>C | CA367403306 | GCK | c.*174C>G (n.*174C>G) c.176C>G (p.Pro59Arg) n.662C>G c.179C>G (p.Pro60Arg) c.173C>G (p.Pro58Arg) | |
| 7 | g.44153333G>T | CA367403307 | GCK | c.*174C>A (n.*174C>A) c.176C>A (p.Pro59His) n.662C>A c.179C>A (p.Pro60His) c.173C>A (p.Pro58His) | |
| 7 | g.44153334G>A | CA213767 | GCK | c.*173C>T (n.*173C>T) c.175C>T (p.Pro59Ser) n.661C>T c.178C>T (p.Pro60Ser) c.172C>T (p.Pro58Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153334G>C | CA367403309 | GCK | c.*173C>G (n.*173C>G) c.175C>G (p.Pro59Ala) n.661C>G c.178C>G (p.Pro60Ala) c.172C>G (p.Pro58Ala) | ClinVar dbSNP |
| 7 | g.44153334G= | CA1703637526 | GCK | c.*173C= (n.*173C=) c.175C= (p.Pro59=) n.661C= c.178C= (p.Pro60=) c.172C= (p.Pro58=) | |
| 7 | g.44153334G>T | CA367403310 | GCK | c.*173C>A (n.*173C>A) c.175C>A (p.Pro59Thr) n.661C>A c.178C>A (p.Pro60Thr) c.172C>A (p.Pro58Thr) | |
| 7 | g.44153335C>A | CA454610533 | GCK | c.*172G>T (n.*172G>T) c.174G>T (p.Leu58=) n.660G>T c.177G>T (p.Leu59=) c.171G>T (p.Leu57=) | |
| 7 | g.44153335C>G | CA454610535 | GCK | c.*172G>C (n.*172G>C) c.174G>C (p.Leu58=) n.660G>C c.177G>C (p.Leu59=) c.171G>C (p.Leu57=) | |
| 7 | g.44153335C>T | CA454610536 | GCK | c.*172G>A (n.*172G>A) c.174G>A (p.Leu58=) n.660G>A c.177G>A (p.Leu59=) c.171G>A (p.Leu57=) | |
| 7 | g.44153336A>C | CA367403311 | GCK | c.*171T>G (n.*171T>G) c.173T>G (p.Leu58Arg) n.659T>G c.176T>G (p.Leu59Arg) c.170T>G (p.Leu57Arg) | |
| 7 | g.44153336A>G | CA500004 | GCK | c.*171T>C (n.*171T>C) c.173T>C (p.Leu58Pro) n.659T>C c.176T>C (p.Leu59Pro) c.170T>C (p.Leu57Pro) | |
| 7 | g.44153336A>T | CA367403312 | GCK | c.*171T>A (n.*171T>A) c.173T>A (p.Leu58Gln) n.659T>A c.176T>A (p.Leu59Gln) c.170T>A (p.Leu57Gln) | |
| 7 | g.44153337G>A | CA454610538 | GCK | c.*170C>T (n.*170C>T) c.172C>T (p.Leu58=) n.658C>T c.175C>T (p.Leu59=) c.169C>T (p.Leu57=) | gnomAD v4 |
| 7 | g.44153337G>C | CA367403313 | GCK | c.*170C>G (n.*170C>G) c.172C>G (p.Leu58Val) n.658C>G c.175C>G (p.Leu59Val) c.169C>G (p.Leu57Val) | |
| 7 | g.44153337G>T | CA367403314 | GCK | c.*170C>A (n.*170C>A) c.172C>A (p.Leu58Met) n.658C>A c.175C>A (p.Leu59Met) c.169C>A (p.Leu57Met) | |
| 7 | g.44153338del | CA2695203018 | GCK | c.*169del (n.*169del) c.171del (p.Met57IlefsTer30) n.657del c.174del (p.Met58IlefsTer30) c.168del (p.Met56IlefsTer30) | |
| 7 | g.44153338C>A | CA16603236 | GCK | c.*169G>T (n.*169G>T) c.171G>T (p.Met57Ile) n.657G>T c.174G>T (p.Met58Ile) c.168G>T (p.Met56Ile) | ClinVar dbSNP |
| 7 | g.44153338C= | CA1703637527 | GCK | c.*169G= (n.*169G=) c.171G= (p.Met57=) n.657G= c.174G= (p.Met58=) c.168G= (p.Met56=) | |
| 7 | g.44153338C>G | CA367403315 | GCK | c.*169G>C (n.*169G>C) c.171G>C (p.Met57Ile) n.657G>C c.174G>C (p.Met58Ile) c.168G>C (p.Met56Ile) | |
| 7 | g.44153338C>T | CA16618473 | GCK | c.*169G>A (n.*169G>A) c.171G>A (p.Met57Ile) n.657G>A c.174G>A (p.Met58Ile) c.168G>A (p.Met56Ile) | ClinVar dbSNP |
| 7 | g.44153339A>C | CA367403318 | GCK | c.*168T>G (n.*168T>G) c.170T>G (p.Met57Arg) n.656T>G c.173T>G (p.Met58Arg) c.167T>G (p.Met56Arg) | |
| 7 | g.44153339A>G | CA367403316 | GCK | c.*168T>C (n.*168T>C) c.170T>C (p.Met57Thr) n.656T>C c.173T>C (p.Met58Thr) c.167T>C (p.Met56Thr) | |
| 7 | g.44153339A>T | CA367403317 | GCK | c.*168T>A (n.*168T>A) c.170T>A (p.Met57Lys) n.656T>A c.173T>A (p.Met58Lys) c.167T>A (p.Met56Lys) | ClinVar gnomAD v4 |
| 7 | g.44153339_44153340delinsC | CA2695203019 | GCK | c.*167_*168delinsG (n.*167_*168delinsG) c.169_170delinsG (p.Met57GlyfsTer30) n.655_656delinsG c.172_173delinsG (p.Met58GlyfsTer30) c.166_167delinsG (p.Met56GlyfsTer30) | |
| 7 | g.44153340T>A | CA367403319 | GCK | c.*167A>T (n.*167A>T) c.169A>T (p.Met57Leu) n.655A>T c.172A>T (p.Met58Leu) c.166A>T (p.Met56Leu) | |
| 7 | g.44153340T>C | CA367403320 | GCK | c.*167A>G (n.*167A>G) c.169A>G (p.Met57Val) n.655A>G c.172A>G (p.Met58Val) c.166A>G (p.Met56Val) | |
| 7 | g.44153340T>G | CA367403321 | GCK | c.*167A>C (n.*167A>C) c.169A>C (p.Met57Leu) n.655A>C c.172A>C (p.Met58Leu) c.166A>C (p.Met56Leu) | |
| 7 | g.44153341del | CA2739289488 | GCK | c.*166del (n.*166del) c.168del (p.Met57CysfsTer?) n.654del c.171del (p.Met58CysfsTer?) c.165del (p.Met56CysfsTer?) | |
| 7 | g.44153341C>A | CA367403322 | GCK | c.*166G>T (n.*166G>T) c.168G>T (p.Lys56Asn) n.654G>T c.171G>T (p.Lys57Asn) c.165G>T (p.Lys55Asn) | |
| 7 | g.44153341C>G | CA367403323 | GCK | c.*166G>C (n.*166G>C) c.168G>C (p.Lys56Asn) n.654G>C c.171G>C (p.Lys57Asn) c.165G>C (p.Lys55Asn) | |
| 7 | g.44153341C>T | CA454610543 | GCK | c.*166G>A (n.*166G>A) c.168G>A (p.Lys56=) n.654G>A c.171G>A (p.Lys57=) c.165G>A (p.Lys55=) | |
| 7 | g.44153342T>A | CA367403324 | GCK | c.*165A>T (n.*165A>T) c.167A>T (p.Lys56Met) n.653A>T c.170A>T (p.Lys57Met) c.164A>T (p.Lys55Met) | |
| 7 | g.44153342T>C | CA367403325 | GCK | c.*165A>G (n.*165A>G) c.167A>G (p.Lys56Arg) n.653A>G c.170A>G (p.Lys57Arg) c.164A>G (p.Lys55Arg) | dbSNP gnomAD v4 |
| 7 | g.44153342T>G | CA367403326 | GCK | c.*165A>C (n.*165A>C) c.167A>C (p.Lys56Thr) n.653A>C c.170A>C (p.Lys57Thr) c.164A>C (p.Lys55Thr) | ClinVar |
| 7 | g.44153342T= | CA1703637528 | GCK | c.*165A= (n.*165A=) c.167A= (p.Lys56=) n.653A= c.170A= (p.Lys57=) c.164A= (p.Lys55=) | |
| 7 | g.44153343T>A | CA367403327 | GCK | c.*164A>T (n.*164A>T) c.166A>T (p.Lys56Ter) n.652A>T c.169A>T (p.Lys57Ter) c.163A>T (p.Lys55Ter) | |
| 7 | g.44153343T>C | CA367403328 | GCK | c.*164A>G (n.*164A>G) c.166A>G (p.Lys56Glu) n.652A>G c.169A>G (p.Lys57Glu) c.163A>G (p.Lys55Glu) | |
| 7 | g.44153343T>G | CA367403329 | GCK | c.*164A>C (n.*164A>C) c.166A>C (p.Lys56Gln) n.652A>C c.169A>C (p.Lys57Gln) c.163A>C (p.Lys55Gln) | |
| 7 | g.44153344C>A | CA454610547 | GCK | c.*163G>T (n.*163G>T) c.165G>T (p.Val55=) n.651G>T c.168G>T (p.Val56=) c.162G>T (p.Val54=) | |
| 7 | g.44153344C>G | CA454610548 | GCK | c.*163G>C (n.*163G>C) c.165G>C (p.Val55=) n.651G>C c.168G>C (p.Val56=) c.162G>C (p.Val54=) | |
| 7 | g.44153344C>T | CA454610549 | GCK | c.*163G>A (n.*163G>A) c.165G>A (p.Val55=) n.651G>A c.168G>A (p.Val56=) c.162G>A (p.Val54=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153345A>C | CA367403333 | GCK | c.*162T>G (n.*162T>G) c.164T>G (p.Val55Gly) n.650T>G c.167T>G (p.Val56Gly) c.161T>G (p.Val54Gly) | |
| 7 | g.44153345A>G | CA367403332 | GCK | c.*162T>C (n.*162T>C) c.164T>C (p.Val55Ala) n.650T>C c.167T>C (p.Val56Ala) c.161T>C (p.Val54Ala) | |
| 7 | g.44153345A>T | CA367403330 | GCK | c.*162T>A (n.*162T>A) c.164T>A (p.Val55Glu) n.650T>A c.167T>A (p.Val56Glu) c.161T>A (p.Val54Glu) | |
| 7 | g.44153346C>A | CA367403335 | GCK | c.*161G>T (n.*161G>T) c.163G>T (p.Val55Leu) n.649G>T c.166G>T (p.Val56Leu) c.160G>T (p.Val54Leu) | |
| 7 | g.44153346C>G | CA367403338 | GCK | c.*161G>C (n.*161G>C) c.163G>C (p.Val55Leu) n.649G>C c.166G>C (p.Val56Leu) c.160G>C (p.Val54Leu) | |
| 7 | g.44153346C>T | CA367403337 | GCK | c.*161G>A (n.*161G>A) c.163G>A (p.Val55Met) n.649G>A c.166G>A (p.Val56Met) c.160G>A (p.Val54Met) | |
| 7 | g.44153346_44153347insCG | CA2504586046 | GCK | c.*160_*161insCG (n.*160_*161insCG) c.162_163insCG (p.Val55ArgfsTer2) n.648_649insCG c.165_166insCG (p.Val56ArgfsTer2) c.159_160insCG (p.Val54ArgfsTer2) | |
| 7 | g.44153347A= | CA1703637529 | GCK | c.*160T= (n.*160T=) c.162T= (p.Ser54=) n.648T= c.165T= (p.Ser55=) c.159T= (p.Ser53=) | |
| 7 | g.44153347A>C | CA4239711 | GCK | c.*160T>G (n.*160T>G) c.162T>G (p.Ser54Arg) n.648T>G c.165T>G (p.Ser55Arg) c.159T>G (p.Ser53Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153347A>G | CA4239712 | GCK | c.*160T>C (n.*160T>C) c.162T>C (p.Ser54=) n.648T>C c.165T>C (p.Ser55=) c.159T>C (p.Ser53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153347A>T | CA367403341 | GCK | c.*160T>A (n.*160T>A) c.162T>A (p.Ser54Arg) n.648T>A c.165T>A (p.Ser55Arg) c.159T>A (p.Ser53Arg) | |
| 7 | g.44153348C>A | CA367403342 | GCK | c.*159G>T (n.*159G>T) c.161G>T (p.Ser54Ile) n.647G>T c.164G>T (p.Ser55Ile) c.158G>T (p.Ser53Ile) | |
| 7 | g.44153348C= | CA1703637530 | GCK | c.*159G= (n.*159G=) c.161G= (p.Ser54=) n.647G= c.164G= (p.Ser55=) c.158G= (p.Ser53=) | |
| 7 | g.44153348C>G | CA367403344 | GCK | c.*159G>C (n.*159G>C) c.161G>C (p.Ser54Thr) n.647G>C c.164G>C (p.Ser55Thr) c.158G>C (p.Ser53Thr) | gnomAD v4 |
| 7 | g.44153348C>T | CA367403345 | GCK | c.*159G>A (n.*159G>A) c.161G>A (p.Ser54Asn) n.647G>A c.164G>A (p.Ser55Asn) c.158G>A (p.Ser53Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153349del | CA2695203020 | GCK | c.*158del (n.*158del) c.160del (p.Ser54ValfsTer2) n.646del c.163del (p.Ser55ValfsTer2) c.157del (p.Ser53ValfsTer2) | |
| 7 | g.44153349T>A | CA367403350 | GCK | c.*158A>T (n.*158A>T) c.160A>T (p.Ser54Cys) n.646A>T c.163A>T (p.Ser55Cys) c.157A>T (p.Ser53Cys) | |
| 7 | g.44153349T>C | CA367403349 | GCK | c.*158A>G (n.*158A>G) c.160A>G (p.Ser54Gly) n.646A>G c.163A>G (p.Ser55Gly) c.157A>G (p.Ser53Gly) | |
| 7 | g.44153349T>G | CA367403347 | GCK | c.*158A>C (n.*158A>C) c.160A>C (p.Ser54Arg) n.646A>C c.163A>C (p.Ser55Arg) c.157A>C (p.Ser53Arg) | |
| 7 | g.44153349_44153350del | CA2525121212 | GCK | c.*157_*158del (n.*157_*158del) c.159_160del (p.Ser54CysfsTer29) n.645_646del c.162_163del (p.Ser55CysfsTer29) c.156_157del (p.Ser53CysfsTer29) | |
| 7 | g.44153350G>A | CA454610556 | GCK | c.*157C>T (n.*157C>T) c.159C>T (p.Ala53=) n.645C>T c.162C>T (p.Ala54=) c.156C>T (p.Ala52=) | |
| 7 | g.44153350G>C | CA454610557 | GCK | c.*157C>G (n.*157C>G) c.159C>G (p.Ala53=) n.645C>G c.162C>G (p.Ala54=) c.156C>G (p.Ala52=) | |
| 7 | g.44153350G>T | CA454610558 | GCK | c.*157C>A (n.*157C>A) c.159C>A (p.Ala53=) n.645C>A c.162C>A (p.Ala54=) c.156C>A (p.Ala52=) | |
| 7 | g.44153351G>A | CA367403352 | GCK | c.*156C>T (n.*156C>T) c.158C>T (p.Ala53Val) n.644C>T c.161C>T (p.Ala54Val) c.155C>T (p.Ala52Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153351G>C | CA367403353 | GCK | c.*156C>G (n.*156C>G) c.158C>G (p.Ala53Gly) n.644C>G c.161C>G (p.Ala54Gly) c.155C>G (p.Ala52Gly) | |
| 7 | g.44153351G>T | CA367403354 | GCK | c.*156C>A (n.*156C>A) c.158C>A (p.Ala53Asp) n.644C>A c.161C>A (p.Ala54Asp) c.155C>A (p.Ala52Asp) | |
| 7 | g.44153352C>A | CA367403356 | GCK | c.*155G>T (n.*155G>T) c.157G>T (p.Ala53Ser) n.643G>T c.160G>T (p.Ala54Ser) c.154G>T (p.Ala52Ser) | |
| 7 | g.44153352C>G | CA367403358 | GCK | c.*155G>C (n.*155G>C) c.157G>C (p.Ala53Pro) n.643G>C c.160G>C (p.Ala54Pro) c.154G>C (p.Ala52Pro) | |
| 7 | g.44153352C>T | CA367403359 | GCK | c.*155G>A (n.*155G>A) c.157G>A (p.Ala53Thr) n.643G>A c.160G>A (p.Ala54Thr) c.154G>A (p.Ala52Thr) | |
| 7 | g.44153353C>A | CA367403361 | GCK | c.*154G>T (n.*154G>T) c.156G>T (p.Glu52Asp) n.642G>T c.159G>T (p.Glu53Asp) c.153G>T (p.Glu51Asp) | |
| 7 | g.44153353C= | CA1703637531 | GCK | c.*154G= (n.*154G=) c.156G= (p.Glu52=) n.642G= c.159G= (p.Glu53=) c.153G= (p.Glu51=) | |
| 7 | g.44153353C>G | CA367403363 | GCK | c.*154G>C (n.*154G>C) c.156G>C (p.Glu52Asp) n.642G>C c.159G>C (p.Glu53Asp) c.153G>C (p.Glu51Asp) | |
| 7 | g.44153353C>T | CA4239713 | GCK | c.*154G>A (n.*154G>A) c.156G>A (p.Glu52=) n.642G>A c.159G>A (p.Glu53=) c.153G>A (p.Glu51=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153354T>A | CA367403365 | GCK | c.*153A>T (n.*153A>T) c.155A>T (p.Glu52Val) n.641A>T c.158A>T (p.Glu53Val) c.152A>T (p.Glu51Val) | |
| 7 | g.44153354T>C | CA367403366 | GCK | c.*153A>G (n.*153A>G) c.155A>G (p.Glu52Gly) n.641A>G c.158A>G (p.Glu53Gly) c.152A>G (p.Glu51Gly) | |
| 7 | g.44153354T>G | CA367403368 | GCK | c.*153A>C (n.*153A>C) c.155A>C (p.Glu52Ala) n.641A>C c.158A>C (p.Glu53Ala) c.152A>C (p.Glu51Ala) | |
| 7 | g.44153355C>A | CA367403369 | GCK | c.*152G>T (n.*152G>T) c.154G>T (p.Glu52Ter) n.640G>T c.157G>T (p.Glu53Ter) c.151G>T (p.Glu51Ter) | |
| 7 | g.44153355C= | CA1703637532 | GCK | c.*152G= (n.*152G=) c.154G= (p.Glu52=) n.640G= c.157G= (p.Glu53=) c.151G= (p.Glu51=) | |
| 7 | g.44153355C>G | CA367403371 | GCK | c.*152G>C (n.*152G>C) c.154G>C (p.Glu52Gln) n.640G>C c.157G>C (p.Glu53Gln) c.151G>C (p.Glu51Gln) | |
| 7 | g.44153355C>T | CA367403372 | GCK | c.*152G>A (n.*152G>A) c.154G>A (p.Glu52Lys) n.640G>A c.157G>A (p.Glu53Lys) c.151G>A (p.Glu51Lys) | dbSNP gnomAD v4 |
| 7 | g.44153356T>A | CA367403374 | GCK | c.*151A>T (n.*151A>T) c.153A>T (p.Glu51Asp) n.639A>T c.156A>T (p.Glu52Asp) c.150A>T (p.Glu50Asp) | |
| 7 | g.44153356T>C | CA157919976 | GCK | c.*151A>G (n.*151A>G) c.153A>G (p.Glu51=) n.639A>G c.156A>G (p.Glu52=) c.150A>G (p.Glu50=) | dbSNP gnomAD v4 |
| 7 | g.44153356T>G | CA367403375 | GCK | c.*151A>C (n.*151A>C) c.153A>C (p.Glu51Asp) n.639A>C c.156A>C (p.Glu52Asp) c.150A>C (p.Glu50Asp) | |
| 7 | g.44153356T= | CA1703637533 | GCK | c.*151A= (n.*151A=) c.153A= (p.Glu51=) n.639A= c.156A= (p.Glu52=) c.150A= (p.Glu50=) | |
| 7 | g.44153357T>A | CA367403377 | GCK | c.*150A>T (n.*150A>T) c.152A>T (p.Glu51Val) n.638A>T c.155A>T (p.Glu52Val) c.149A>T (p.Glu50Val) | |
| 7 | g.44153357T>C | CA367403379 | GCK | c.*150A>G (n.*150A>G) c.152A>G (p.Glu51Gly) n.638A>G c.155A>G (p.Glu52Gly) c.149A>G (p.Glu50Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153357T>G | CA367403380 | GCK | c.*150A>C (n.*150A>C) c.152A>C (p.Glu51Ala) n.638A>C c.155A>C (p.Glu52Ala) c.149A>C (p.Glu50Ala) | |
| 7 | g.44153357T= | CA1703637534 | GCK | c.*150A= (n.*150A=) c.152A= (p.Glu51=) n.638A= c.155A= (p.Glu52=) c.149A= (p.Glu50=) | |
| 7 | g.44153358C>A | CA367403382 | GCK | c.*149G>T (n.*149G>T) c.151G>T (p.Glu51Ter) n.637G>T c.154G>T (p.Glu52Ter) c.148G>T (p.Glu50Ter) | ClinVar |
| 7 | g.44153358C= | CA1703637535 | GCK | c.*149G= (n.*149G=) c.151G= (p.Glu51=) n.637G= c.154G= (p.Glu52=) c.148G= (p.Glu50=) | |
| 7 | g.44153358C>G | CA367403385 | GCK | c.*149G>C (n.*149G>C) c.151G>C (p.Glu51Gln) n.637G>C c.154G>C (p.Glu52Gln) c.148G>C (p.Glu50Gln) | |
| 7 | g.44153358C>T | CA367403383 | GCK | c.*149G>A (n.*149G>A) c.151G>A (p.Glu51Lys) n.637G>A c.154G>A (p.Glu52Lys) c.148G>A (p.Glu50Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153359A= | CA1703637536 | GCK | c.*148T= (n.*148T=) c.150T= (p.His50=) n.636T= c.153T= (p.His51=) c.147T= (p.His49=) | |
| 7 | g.44153359A>C | CA367403387 | GCK | c.*148T>G (n.*148T>G) c.150T>G (p.His50Gln) n.636T>G c.153T>G (p.His51Gln) c.147T>G (p.His49Gln) | |
| 7 | g.44153359A>G | CA454610560 | GCK | c.*148T>C (n.*148T>C) c.150T>C (p.His50=) n.636T>C c.153T>C (p.His51=) c.147T>C (p.His49=) | dbSNP gnomAD v4 |
| 7 | g.44153359A>T | CA367403388 | GCK | c.*148T>A (n.*148T>A) c.150T>A (p.His50Gln) n.636T>A c.153T>A (p.His51Gln) c.147T>A (p.His49Gln) | |
| 7 | g.44153359dup | CA2580077170 | GCK | c.*148dup (n.*148dup) c.150dup (p.Glu51Ter) n.636dup c.153dup (p.Glu52Ter) c.147dup (p.Glu50Ter) | ClinVar |
| 7 | g.44153360T>A | CA367403390 | GCK | c.*147A>T (n.*147A>T) c.149A>T (p.His50Leu) n.635A>T c.152A>T (p.His51Leu) c.146A>T (p.His49Leu) | ClinVar |
| 7 | g.44153360T>C | CA367403391 | GCK | c.*147A>G (n.*147A>G) c.149A>G (p.His50Arg) n.635A>G c.152A>G (p.His51Arg) c.146A>G (p.His49Arg) | |
| 7 | g.44153360T>G | CA367403393 | GCK | c.*147A>C (n.*147A>C) c.149A>C (p.His50Pro) n.635A>C c.152A>C (p.His51Pro) c.146A>C (p.His49Pro) | |
| 7 | g.44153360T= | CA1703637537 | GCK | c.*147A= (n.*147A=) c.149A= (p.His50=) n.635A= c.152A= (p.His51=) c.146A= (p.His49=) | |
| 7 | g.44153360dup | CA2695203021 | GCK | c.*147dup (n.*147dup) c.149dup (p.His50GlnfsTer2) n.635dup c.152dup (p.His51GlnfsTer2) c.146dup (p.His49GlnfsTer2) | |
| 7 | g.44153361G>A | CA367403394 | GCK | c.*146C>T (n.*146C>T) c.148C>T (p.His50Tyr) n.634C>T c.151C>T (p.His51Tyr) c.145C>T (p.His49Tyr) | ClinVar dbSNP |
| 7 | g.44153361G>C | CA367403396 | GCK | c.*146C>G (n.*146C>G) c.148C>G (p.His50Asp) n.634C>G c.151C>G (p.His51Asp) c.145C>G (p.His49Asp) | |
| 7 | g.44153361G= | CA1703637538 | GCK | c.*146C= (n.*146C=) c.148C= (p.His50=) n.634C= c.151C= (p.His51=) c.145C= (p.His49=) | |
| 7 | g.44153361G>T | CA367403397 | GCK | c.*146C>A (n.*146C>A) c.148C>A (p.His50Asn) n.634C>A c.151C>A (p.His51Asn) c.145C>A (p.His49Asn) | |
| 7 | g.44153363dup | CA10603051 | GCK | c.*146dup (n.*146dup) c.148dup (p.His50ProfsTer2) n.634dup c.151dup (p.His51ProfsTer2) c.145dup (p.His49ProfsTer2) | ClinVar dbSNP |
| 7 | g.44153363del | CA2499218897 | GCK | c.*146del (n.*146del) c.148del (p.His50MetfsTer6) n.634del c.151del (p.His51MetfsTer6) c.145del (p.His49MetfsTer6) | ClinVar dbSNP |
| 7 | g.44153362G>A | CA454610565 | GCK | c.*145C>T (n.*145C>T) c.147C>T (p.Thr49=) n.633C>T c.150C>T (p.Thr50=) c.144C>T (p.Thr48=) | |
| 7 | g.44153362G>C | CA454610568 | GCK | c.*145C>G (n.*145C>G) c.147C>G (p.Thr49=) n.633C>G c.150C>G (p.Thr50=) c.144C>G (p.Thr48=) | |
| 7 | g.44153362G= | CA1703637539 | GCK | c.*145C= (n.*145C=) c.147C= (p.Thr49=) n.633C= c.150C= (p.Thr50=) c.144C= (p.Thr48=) | |
| 7 | g.44153362G>T | CA157919986 | GCK | c.*145C>A (n.*145C>A) c.147C>A (p.Thr49=) n.633C>A c.150C>A (p.Thr50=) c.144C>A (p.Thr48=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153363G>A | CA367403399 | GCK | c.*144C>T (n.*144C>T) c.146C>T (p.Thr49Ile) n.632C>T c.149C>T (p.Thr50Ile) c.143C>T (p.Thr48Ile) | ClinVar dbSNP |
| 7 | g.44153363G>C | CA367403400 | GCK | c.*144C>G (n.*144C>G) c.146C>G (p.Thr49Ser) n.632C>G c.149C>G (p.Thr50Ser) c.143C>G (p.Thr48Ser) | ClinVar |
| 7 | g.44153363G= | CA1703637540 | GCK | c.*144C= (n.*144C=) c.146C= (p.Thr49=) n.632C= c.149C= (p.Thr50=) c.143C= (p.Thr48=) | |
| 7 | g.44153363G>T | CA213765 | GCK | c.*144C>A (n.*144C>A) c.146C>A (p.Thr49Asn) n.632C>A c.149C>A (p.Thr50Asn) c.143C>A (p.Thr48Asn) | ClinVar dbSNP |
| 7 | g.44153364T>A | CA367403406 | GCK | c.*143A>T (n.*143A>T) c.145A>T (p.Thr49Ser) n.631A>T c.148A>T (p.Thr50Ser) c.142A>T (p.Thr48Ser) | |
| 7 | g.44153364T>C | CA367403404 | GCK | c.*143A>G (n.*143A>G) c.145A>G (p.Thr49Ala) n.631A>G c.148A>G (p.Thr50Ala) c.142A>G (p.Thr48Ala) | |
| 7 | g.44153364T>G | CA367403403 | GCK | c.*143A>C (n.*143A>C) c.145A>C (p.Thr49Pro) n.631A>C c.148A>C (p.Thr50Pro) c.142A>C (p.Thr48Pro) | |
| 7 | g.44153365C>A | CA367403407 | GCK | c.*142G>T (n.*142G>T) c.144G>T (p.Glu48Asp) n.630G>T c.147G>T (p.Glu49Asp) c.141G>T (p.Glu47Asp) | |
| 7 | g.44153365C>G | CA367403409 | GCK | c.*142G>C (n.*142G>C) c.144G>C (p.Glu48Asp) n.630G>C c.147G>C (p.Glu49Asp) c.141G>C (p.Glu47Asp) | gnomAD v4 |
| 7 | g.44153365C>T | CA454610572 | GCK | c.*142G>A (n.*142G>A) c.144G>A (p.Glu48=) n.630G>A c.147G>A (p.Glu49=) c.141G>A (p.Glu47=) | COSMIC COSMIC COSMIC |
| 7 | g.44153366T>A | CA367403410 | GCK | c.*141A>T (n.*141A>T) c.143A>T (p.Glu48Val) n.629A>T c.146A>T (p.Glu49Val) c.140A>T (p.Glu47Val) | |
| 7 | g.44153366T>C | CA367403412 | GCK | c.*141A>G (n.*141A>G) c.143A>G (p.Glu48Gly) n.629A>G c.146A>G (p.Glu49Gly) c.140A>G (p.Glu47Gly) | |
| 7 | g.44153366T>G | CA367403413 | GCK | c.*141A>C (n.*141A>C) c.143A>C (p.Glu48Ala) n.629A>C c.146A>C (p.Glu49Ala) c.140A>C (p.Glu47Ala) | |
| 7 | g.44153367C>A | CA367403414 | GCK | c.*140G>T (n.*140G>T) c.142G>T (p.Glu48Ter) n.628G>T c.145G>T (p.Glu49Ter) c.139G>T (p.Glu47Ter) | |
| 7 | g.44153367C= | CA1703637541 | GCK | c.*140G= (n.*140G=) c.142G= (p.Glu48=) n.628G= c.145G= (p.Glu49=) c.139G= (p.Glu47=) | |
| 7 | g.44153367C>G | CA367403415 | GCK | c.*140G>C (n.*140G>C) c.142G>C (p.Glu48Gln) n.628G>C c.145G>C (p.Glu49Gln) c.139G>C (p.Glu47Gln) | |
| 7 | g.44153367C>T | CA4239714 | GCK | c.*140G>A (n.*140G>A) c.142G>A (p.Glu48Lys) n.628G>A c.145G>A (p.Glu49Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153368C>A | CA454610573 | GCK | c.*139G>T (n.*139G>T) c.141G>T (p.Leu47=) n.627G>T c.144G>T (p.Leu48=) c.138G>T (p.Leu46=) | |
| 7 | g.44153368C= | CA1703637542 | GCK | c.*139G= (n.*139G=) c.141G= (p.Leu47=) n.627G= c.144G= (p.Leu48=) c.138G= (p.Leu46=) | |
| 7 | g.44153368C>G | CA454610574 | GCK | c.*139G>C (n.*139G>C) c.141G>C (p.Leu47=) n.627G>C c.144G>C (p.Leu48=) c.138G>C (p.Leu46=) | |
| 7 | g.44153368C>T | CA157919987 | GCK | c.*139G>A (n.*139G>A) c.141G>A (p.Leu47=) n.627G>A c.144G>A (p.Leu48=) c.138G>A (p.Leu46=) | dbSNP |
| 7 | g.44153369A>C | CA367403416 | GCK | c.*138T>G (n.*138T>G) c.140T>G (p.Leu47Arg) n.626T>G c.143T>G (p.Leu48Arg) c.137T>G (p.Leu46Arg) | |
| 7 | g.44153369A>G | CA367403417 | GCK | c.*138T>C (n.*138T>C) c.140T>C (p.Leu47Pro) n.626T>C c.143T>C (p.Leu48Pro) c.137T>C (p.Leu46Pro) | |
| 7 | g.44153369A>T | CA367403419 | GCK | c.*138T>A (n.*138T>A) c.140T>A (p.Leu47Gln) n.626T>A c.143T>A (p.Leu48Gln) c.137T>A (p.Leu46Gln) | |
| 7 | g.44153369dup | CA2573142152 | GCK | c.*138dup (n.*138dup) c.140dup (p.Glu48GlyfsTer4) n.626dup c.143dup (p.Glu49GlyfsTer4) c.137dup (p.Glu47GlyfsTer4) | ClinVar dbSNP |
| 7 | g.44153370G>A | CA454610576 | GCK | c.*137C>T (n.*137C>T) c.139C>T (p.Leu47=) n.625C>T c.142C>T (p.Leu48=) c.136C>T (p.Leu46=) | |
| 7 | g.44153370G>C | CA367403422 | GCK | c.*137C>G (n.*137C>G) c.139C>G (p.Leu47Val) n.625C>G c.142C>G (p.Leu48Val) c.136C>G (p.Leu46Val) | |
| 7 | g.44153370G>T | CA367403420 | GCK | c.*137C>A (n.*137C>A) c.139C>A (p.Leu47Met) n.625C>A c.142C>A (p.Leu48Met) c.136C>A (p.Leu46Met) | |
| 7 | g.44153371C>A | CA367403423 | GCK | c.*136G>T (n.*136G>T) c.138G>T (p.Arg46Ser) n.624G>T c.141G>T (p.Arg47Ser) c.135G>T (p.Arg45Ser) | |
| 7 | g.44153371C= | CA1703637543 | GCK | c.*136G= (n.*136G=) c.138G= (p.Arg46=) n.624G= c.141G= (p.Arg47=) c.135G= (p.Arg45=) | |
| 7 | g.44153371C>G | CA367403425 | GCK | c.*136G>C (n.*136G>C) c.138G>C (p.Arg46Ser) n.624G>C c.141G>C (p.Arg47Ser) c.135G>C (p.Arg45Ser) | gnomAD v4 |
| 7 | g.44153371C>T | CA4239715 | GCK | c.*136G>A (n.*136G>A) c.138G>A (p.Arg46=) n.624G>A c.141G>A (p.Arg47=) c.135G>A (p.Arg45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153372C>A | CA16618474 | GCK | c.*135G>T (n.*135G>T) c.137G>T (p.Arg46Met) n.623G>T c.140G>T (p.Arg47Met) c.134G>T (p.Arg45Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153372C= | CA1703637544 | GCK | c.*135G= (n.*135G=) c.137G= (p.Arg46=) n.623G= c.140G= (p.Arg47=) c.134G= (p.Arg45=) | |
| 7 | g.44153372C>G | CA367403427 | GCK | c.*135G>C (n.*135G>C) c.137G>C (p.Arg46Thr) n.623G>C c.140G>C (p.Arg47Thr) c.134G>C (p.Arg45Thr) | |
| 7 | g.44153372C>T | CA367403428 | GCK | c.*135G>A (n.*135G>A) c.137G>A (p.Arg46Lys) n.623G>A c.140G>A (p.Arg47Lys) c.134G>A (p.Arg45Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153373T>A | CA367403430 | GCK | c.*134A>T (n.*134A>T) c.136A>T (p.Arg46Trp) n.622A>T c.139A>T (p.Arg47Trp) c.133A>T (p.Arg45Trp) | |
| 7 | g.44153373T>C | CA367403431 | GCK | c.*134A>G (n.*134A>G) c.136A>G (p.Arg46Gly) n.622A>G c.139A>G (p.Arg47Gly) c.133A>G (p.Arg45Gly) | |
| 7 | g.44153373T>G | CA454610581 | GCK | c.*134A>C (n.*134A>C) c.136A>C (p.Arg46=) n.622A>C c.139A>C (p.Arg47=) c.133A>C (p.Arg45=) | |
| 7 | g.44153374C>A | CA454610582 | GCK | c.*133G>T (n.*133G>T) c.135G>T (p.Leu45=) n.621G>T c.138G>T (p.Leu46=) c.132G>T (p.Leu44=) | |
| 7 | g.44153374C>G | CA454610583 | GCK | c.*133G>C (n.*133G>C) c.135G>C (p.Leu45=) n.621G>C c.138G>C (p.Leu46=) c.132G>C (p.Leu44=) | |
| 7 | g.44153374C>T | CA454610584 | GCK | c.*133G>A (n.*133G>A) c.135G>A (p.Leu45=) n.621G>A c.138G>A (p.Leu46=) c.132G>A (p.Leu44=) | COSMIC COSMIC COSMIC |
| 7 | g.44153375A= | CA1703637545 | GCK | c.*132T= (n.*132T=) c.134T= (p.Leu45=) n.620T= c.137T= (p.Leu46=) c.131T= (p.Leu44=) | |
| 7 | g.44153375A>C | CA367403435 | GCK | c.*132T>G (n.*132T>G) c.134T>G (p.Leu45Arg) n.620T>G c.137T>G (p.Leu46Arg) c.131T>G (p.Leu44Arg) | |
| 7 | g.44153375A>G | CA367403437 | GCK | c.*132T>C (n.*132T>C) c.134T>C (p.Leu45Pro) n.620T>C c.137T>C (p.Leu46Pro) c.131T>C (p.Leu44Pro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153375A>T | CA367403438 | GCK | c.*132T>A (n.*132T>A) c.134T>A (p.Leu45Gln) n.620T>A c.137T>A (p.Leu46Gln) c.131T>A (p.Leu44Gln) | COSMIC COSMIC COSMIC |
| 7 | g.44153376G>A | CA454610587 | GCK | c.*131C>T (n.*131C>T) c.133C>T (p.Leu45=) n.619C>T c.136C>T (p.Leu46=) c.130C>T (p.Leu44=) | |
| 7 | g.44153376G>C | CA367403439 | GCK | c.*131C>G (n.*131C>G) c.133C>G (p.Leu45Val) n.619C>G c.136C>G (p.Leu46Val) c.130C>G (p.Leu44Val) | |
| 7 | g.44153376G>T | CA367403440 | GCK | c.*131C>A (n.*131C>A) c.133C>A (p.Leu45Met) n.619C>A c.136C>A (p.Leu46Met) c.130C>A (p.Leu44Met) | |
| 7 | g.44153378_44153383del | CA2695203022 | GCK | c.*126_*131del (n.*126_*131del) c.128_133del (p.Arg43_Gly44del) n.614_619del c.131_136del (p.Arg44_Gly45del) c.125_130del (p.Arg42_Gly43del) | |
| 7 | g.44153377G>A | CA4239716 | GCK | c.*130C>T (n.*130C>T) c.132C>T (p.Gly44=) n.618C>T c.135C>T (p.Gly45=) c.129C>T (p.Gly43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153377G>C | CA454610589 | GCK | c.*130C>G (n.*130C>G) c.132C>G (p.Gly44=) n.618C>G c.135C>G (p.Gly45=) c.129C>G (p.Gly43=) | |
| 7 | g.44153377G= | CA1703637546 | GCK | c.*130C= (n.*130C=) c.132C= (p.Gly44=) n.618C= c.135C= (p.Gly45=) c.129C= (p.Gly43=) | |
| 7 | g.44153377G>T | CA454610590 | GCK | c.*130C>A (n.*130C>A) c.132C>A (p.Gly44=) n.618C>A c.135C>A (p.Gly45=) c.129C>A (p.Gly43=) | |
| 7 | g.44153378C>A | CA367403442 | GCK | c.*129G>T (n.*129G>T) c.131G>T (p.Gly44Val) n.617G>T c.134G>T (p.Gly45Val) c.128G>T (p.Gly43Val) | |
| 7 | g.44153378C= | CA1703637547 | GCK | c.*129G= (n.*129G=) c.131G= (p.Gly44=) n.617G= c.134G= (p.Gly45=) c.128G= (p.Gly43=) | |
| 7 | g.44153378C>G | CA367403441 | GCK | c.*129G>C (n.*129G>C) c.131G>C (p.Gly44Ala) n.617G>C c.134G>C (p.Gly45Ala) c.128G>C (p.Gly43Ala) | |
| 7 | g.44153378C>T | CA213753 | GCK | c.*129G>A (n.*129G>A) c.131G>A (p.Gly44Asp) n.617G>A c.134G>A (p.Gly45Asp) c.128G>A (p.Gly43Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153379del | CA2695203023 | GCK | c.*129del (n.*129del) c.131del (p.Gly44AlafsTer2) n.617del c.134del (p.Gly45AlafsTer2) c.128del (p.Gly43AlafsTer2) | |
| 7 | g.44153381_44153403del | CA2695203024 | GCK | c.*107_*129del (n.*107_*129del) c.109_131del (p.Met37ProfsTer7) n.595_617del c.112_134del (p.Met38ProfsTer7) c.106_128del (p.Met36ProfsTer7) | |
| 7 | g.44153379C>A | CA367403443 | GCK | c.*128G>T (n.*128G>T) c.130G>T (p.Gly44Cys) n.616G>T c.133G>T (p.Gly45Cys) c.127G>T (p.Gly43Cys) | ClinVar gnomAD v4 |
| 7 | g.44153379C= | CA1703637548 | GCK | c.*128G= (n.*128G=) c.130G= (p.Gly44=) n.616G= c.133G= (p.Gly45=) c.127G= (p.Gly43=) | |
| 7 | g.44153379C>G | CA367403444 | GCK | c.*128G>C (n.*128G>C) c.130G>C (p.Gly44Arg) n.616G>C c.133G>C (p.Gly45Arg) c.127G>C (p.Gly43Arg) | |
| 7 | g.44153379C>T | CA157920006 | GCK | c.*128G>A (n.*128G>A) c.130G>A (p.Gly44Ser) n.616G>A c.133G>A (p.Gly45Ser) c.127G>A (p.Gly43Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153380G>A | CA4239717 | GCK | c.*127C>T (n.*127C>T) c.129C>T (p.Arg43=) n.615C>T c.132C>T (p.Arg44=) c.126C>T (p.Arg42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153380G>C | CA454610599 | GCK | c.*127C>G (n.*127C>G) c.129C>G (p.Arg43=) n.615C>G c.132C>G (p.Arg44=) c.126C>G (p.Arg42=) | |
| 7 | g.44153380G= | CA1703637549 | GCK | c.*127C= (n.*127C=) c.129C= (p.Arg43=) n.615C= c.132C= (p.Arg44=) c.126C= (p.Arg42=) | |
| 7 | g.44153380G>T | CA454610600 | GCK | c.*127C>A (n.*127C>A) c.129C>A (p.Arg43=) n.615C>A c.132C>A (p.Arg44=) c.126C>A (p.Arg42=) | |
| 7 | g.44153381C>A | CA367403447 | GCK | c.*126G>T (n.*126G>T) c.128G>T (p.Arg43Leu) n.614G>T c.131G>T (p.Arg44Leu) c.125G>T (p.Arg42Leu) | |
| 7 | g.44153381C= | CA1703637550 | GCK | c.*126G= (n.*126G=) c.128G= (p.Arg43=) n.614G= c.131G= (p.Arg44=) c.125G= (p.Arg42=) | |
| 7 | g.44153381C>G | CA367403448 | GCK | c.*126G>C (n.*126G>C) c.128G>C (p.Arg43Pro) n.614G>C c.131G>C (p.Arg44Pro) c.125G>C (p.Arg42Pro) | ClinVar dbSNP |
| 7 | g.44153381C>T | CA4239718 | GCK | c.*126G>A (n.*126G>A) c.128G>A (p.Arg43His) n.614G>A c.131G>A (p.Arg44His) c.125G>A (p.Arg42His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153382G>A | CA367403451 | GCK | c.*125C>T (n.*125C>T) c.127C>T (p.Arg43Cys) n.613C>T c.130C>T (p.Arg44Cys) c.124C>T (p.Arg42Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.44153382G>C | CA367403452 | GCK | c.*125C>G (n.*125C>G) c.127C>G (p.Arg43Gly) n.613C>G c.130C>G (p.Arg44Gly) c.124C>G (p.Arg42Gly) | |
| 7 | g.44153382G= | CA1703637551 | GCK | c.*125C= (n.*125C=) c.127C= (p.Arg43=) n.613C= c.130C= (p.Arg44=) c.124C= (p.Arg42=) | |
| 7 | g.44153382G>T | CA367403453 | GCK | c.*125C>A (n.*125C>A) c.127C>A (p.Arg43Ser) n.613C>A c.130C>A (p.Arg44Ser) c.124C>A (p.Arg42Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153383dup | CA2695203025 | GCK | c.*125dup (n.*125dup) c.127dup (p.Arg43ProfsTer9) n.613dup c.130dup (p.Arg44ProfsTer9) c.124dup (p.Arg42ProfsTer9) | |
| 7 | g.44153383G>A | CA454610604 | GCK | c.*124C>T (n.*124C>T) c.126C>T (p.Asp42=) n.612C>T c.129C>T (p.Asp43=) c.123C>T (p.Asp41=) | |
| 7 | g.44153383G>C | CA367403454 | GCK | c.*124C>G (n.*124C>G) c.126C>G (p.Asp42Glu) n.612C>G c.129C>G (p.Asp43Glu) c.123C>G (p.Asp41Glu) | |
| 7 | g.44153383G>T | CA367403456 | GCK | c.*124C>A (n.*124C>A) c.126C>A (p.Asp42Glu) n.612C>A c.129C>A (p.Asp43Glu) c.123C>A (p.Asp41Glu) | |
| 7 | g.44153384T>A | CA367403459 | GCK | c.*123A>T (n.*123A>T) c.125A>T (p.Asp42Val) n.611A>T c.128A>T (p.Asp43Val) c.122A>T (p.Asp41Val) | |
| 7 | g.44153384T>C | CA157920043 | GCK | c.*123A>G (n.*123A>G) c.125A>G (p.Asp42Gly) n.611A>G c.128A>G (p.Asp43Gly) c.122A>G (p.Asp41Gly) | dbSNP |
| 7 | g.44153384T>G | CA367403458 | GCK | c.*123A>C (n.*123A>C) c.125A>C (p.Asp42Ala) n.611A>C c.128A>C (p.Asp43Ala) c.122A>C (p.Asp41Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153384T= | CA1703637552 | GCK | c.*123A= (n.*123A=) c.125A= (p.Asp42=) n.611A= c.128A= (p.Asp43=) c.122A= (p.Asp41=) | |
| 7 | g.44153385C>A | CA367403460 | GCK | c.*122G>T (n.*122G>T) c.124G>T (p.Asp42Tyr) n.610G>T c.127G>T (p.Asp43Tyr) c.121G>T (p.Asp41Tyr) | |
| 7 | g.44153385C= | CA1703637553 | GCK | c.*122G= (n.*122G=) c.124G= (p.Asp42=) n.610G= c.127G= (p.Asp43=) c.121G= (p.Asp41=) | |
| 7 | g.44153385C>G | CA367403461 | GCK | c.*122G>C (n.*122G>C) c.124G>C (p.Asp42His) n.610G>C c.127G>C (p.Asp43His) c.121G>C (p.Asp41His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153385C>T | CA367403462 | GCK | c.*122G>A (n.*122G>A) c.124G>A (p.Asp42Asn) n.610G>A c.127G>A (p.Asp43Asn) c.121G>A (p.Asp41Asn) | |
| 7 | g.44153386C>A | CA367403464 | GCK | c.*121G>T (n.*121G>T) c.123G>T (p.Met41Ile) n.609G>T c.126G>T (p.Met42Ile) c.120G>T (p.Met40Ile) | |
| 7 | g.44153386C>G | CA367403465 | GCK | c.*121G>C (n.*121G>C) c.123G>C (p.Met41Ile) n.609G>C c.126G>C (p.Met42Ile) c.120G>C (p.Met40Ile) | |
| 7 | g.44153386C>T | CA367403466 | GCK | c.*121G>A (n.*121G>A) c.123G>A (p.Met41Ile) n.609G>A c.126G>A (p.Met42Ile) c.120G>A (p.Met40Ile) | |
| 7 | g.44153386_44153393dup | CA913187396 | GCK | c.*114_*121dup (n.*114_*121dup) c.116_123dup (p.Asp42ArgfsTer7) n.602_609dup c.119_126dup (p.Asp43ArgfsTer7) c.113_120dup (p.Asp41ArgfsTer7) | ClinVar |
| 7 | g.44153386_44153387insCATCTCCT | CA2580077173 | GCK | c.*120_*121insAGGAGATG (n.*120_*121insAGGAGATG) c.122_123insAGGAGATG (p.Met41IlefsTer8) n.608_609insAGGAGATG c.125_126insAGGAGATG (p.Met42IlefsTer8) c.119_120insAGGAGATG (p.Met40IlefsTer8) | ClinVar |
| 7 | g.44153387A= | CA1703637554 | GCK | c.*120T= (n.*120T=) c.122T= (p.Met41=) n.608T= c.125T= (p.Met42=) c.119T= (p.Met40=) | |
| 7 | g.44153387A>C | CA367403469 | GCK | c.*120T>G (n.*120T>G) c.122T>G (p.Met41Arg) n.608T>G c.125T>G (p.Met42Arg) c.119T>G (p.Met40Arg) | ClinVar |
| 7 | g.44153387A>G | CA16609270 | GCK | c.*120T>C (n.*120T>C) c.122T>C (p.Met41Thr) n.608T>C c.125T>C (p.Met42Thr) c.119T>C (p.Met40Thr) | ClinVar dbSNP |
| 7 | g.44153387A>T | CA367403468 | GCK | c.*120T>A (n.*120T>A) c.122T>A (p.Met41Lys) n.608T>A c.125T>A (p.Met42Lys) c.119T>A (p.Met40Lys) |