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.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.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) | |
| 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) | |
| 7 | g.44153388T>A | CA367403471 | GCK | c.*119A>T (n.*119A>T) c.121A>T (p.Met41Leu) n.607A>T c.124A>T (p.Met42Leu) c.118A>T (p.Met40Leu) | |
| 7 | g.44153388T>C | CA367403472 | GCK | c.*119A>G (n.*119A>G) c.121A>G (p.Met41Val) n.607A>G c.124A>G (p.Met42Val) c.118A>G (p.Met40Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153388T>G | CA367403473 | GCK | c.*119A>C (n.*119A>C) c.121A>C (p.Met41Leu) n.607A>C c.124A>C (p.Met42Leu) c.118A>C (p.Met40Leu) | |
| 7 | g.44153388T= | CA1703637555 | GCK | c.*119A= (n.*119A=) c.121A= (p.Met41=) n.607A= c.124A= (p.Met42=) c.118A= (p.Met40=) | |
| 7 | g.44153389C>A | CA367403475 | GCK | c.*118G>T (n.*118G>T) c.120G>T (p.Glu40Asp) n.606G>T c.123G>T (p.Glu41Asp) c.117G>T (p.Glu39Asp) | |
| 7 | g.44153389C= | CA1703637556 | GCK | c.*118G= (n.*118G=) c.120G= (p.Glu40=) n.606G= c.123G= (p.Glu41=) c.117G= (p.Glu39=) | |
| 7 | g.44153389C>G | CA367403477 | GCK | c.*118G>C (n.*118G>C) c.120G>C (p.Glu40Asp) n.606G>C c.123G>C (p.Glu41Asp) c.117G>C (p.Glu39Asp) | |
| 7 | g.44153389C>T | CA454610614 | GCK | c.*118G>A (n.*118G>A) c.120G>A (p.Glu40=) n.606G>A c.123G>A (p.Glu41=) c.117G>A (p.Glu39=) | dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153391_44153393del | CA2695203026 | GCK | c.*116_*118del (n.*116_*118del) c.118_120del (p.Glu40del) n.604_606del c.121_123del (p.Glu41del) c.115_117del (p.Glu39del) | |
| 7 | g.44153390T>A | CA367403481 | GCK | c.*117A>T (n.*117A>T) c.119A>T (p.Glu40Val) n.605A>T c.122A>T (p.Glu41Val) c.116A>T (p.Glu39Val) | |
| 7 | g.44153390T>C | CA367403484 | GCK | c.*117A>G (n.*117A>G) c.119A>G (p.Glu40Gly) n.605A>G c.122A>G (p.Glu41Gly) c.116A>G (p.Glu39Gly) | |
| 7 | g.44153390T>G | CA367403483 | GCK | c.*117A>C (n.*117A>C) c.119A>C (p.Glu40Ala) n.605A>C c.122A>C (p.Glu41Ala) c.116A>C (p.Glu39Ala) | |
| 7 | g.44153391C>A | CA367403485 | GCK | c.*116G>T (n.*116G>T) c.118G>T (p.Glu40Ter) n.604G>T c.121G>T (p.Glu41Ter) c.115G>T (p.Glu39Ter) n.553G>T | |
| 7 | g.44153391C= | CA1703637557 | GCK | c.*116G= (n.*116G=) c.118G= (p.Glu40=) n.604G= c.121G= (p.Glu41=) c.115G= (p.Glu39=) n.553G= | |
| 7 | g.44153391C>G | CA367403488 | GCK | c.*116G>C (n.*116G>C) c.118G>C (p.Glu40Gln) n.604G>C c.121G>C (p.Glu41Gln) c.115G>C (p.Glu39Gln) n.553G>C | |
| 7 | g.44153391C>T | CA201503 | GCK | c.*116G>A (n.*116G>A) c.118G>A (p.Glu40Lys) n.604G>A c.121G>A (p.Glu41Lys) c.115G>A (p.Glu39Lys) n.553G>A | ClinVar dbSNP |
| 7 | g.44153392del | CA2695203027 | GCK | c.*116del (n.*116del) c.118del (p.Glu40ArgfsTer6) n.604del c.121del (p.Glu41ArgfsTer6) c.115del (p.Glu39ArgfsTer6) n.553del | |
| 7 | g.44153391_44153394delinsCCTT | CA1703637558 | GCK | c.*113_*116delinsAAGG (n.*113_*116delinsAAGG) c.115_118delinsAAGG (p.Lys39=) n.601_604delinsAAGG c.118_121delinsAAGG (p.Lys40=) c.112_115delinsAAGG (p.Lys38=) n.550_553delinsAAGG | |
| 7 | g.44153392C>A | CA367403492 | GCK | c.*115G>T (n.*115G>T) c.117G>T (p.Lys39Asn) n.603G>T c.120G>T (p.Lys40Asn) c.114G>T (p.Lys38Asn) n.552G>T | |
| 7 | g.44153392C= | CA1703637559 | GCK | c.*115G= (n.*115G=) c.117G= (p.Lys39=) n.603G= c.120G= (p.Lys40=) c.114G= (p.Lys38=) n.552G= | |
| 7 | g.44153392C>G | CA367403494 | GCK | c.*115G>C (n.*115G>C) c.117G>C (p.Lys39Asn) n.603G>C c.120G>C (p.Lys40Asn) c.114G>C (p.Lys38Asn) n.552G>C | |
| 7 | g.44153392C>T | CA213735 | GCK | c.*115G>A (n.*115G>A) c.117G>A (p.Lys39=) n.603G>A c.120G>A (p.Lys40=) c.114G>A (p.Lys38=) n.552G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153394_44153396del | CA1139660059 | GCK | c.*113_*115del (n.*113_*115del) c.115_117del (p.Lys39del) n.601_603del c.118_120del (p.Lys40del) c.112_114del (p.Lys38del) n.550_552del | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153393T>A | CA367403496 | GCK | c.*114A>T (n.*114A>T) c.116A>T (p.Lys39Met) n.602A>T c.119A>T (p.Lys40Met) c.113A>T (p.Lys38Met) n.551A>T | |
| 7 | g.44153393T>C | CA367403498 | GCK | c.*114A>G (n.*114A>G) c.116A>G (p.Lys39Arg) n.602A>G c.119A>G (p.Lys40Arg) c.113A>G (p.Lys38Arg) n.551A>G | |
| 7 | g.44153393T>G | CA367403500 | GCK | c.*114A>C (n.*114A>C) c.116A>C (p.Lys39Thr) n.602A>C c.119A>C (p.Lys40Thr) c.113A>C (p.Lys38Thr) n.551A>C | |
| 7 | g.44153394del | CA2695203028 | GCK | c.*114del (n.*114del) c.116del (p.Lys39ArgfsTer7) n.602del c.119del (p.Lys40ArgfsTer7) c.113del (p.Lys38ArgfsTer7) n.551del | |
| 7 | g.44153394T>A | CA367403503 | GCK | c.*113A>T (n.*113A>T) c.115A>T (p.Lys39Ter) n.601A>T c.118A>T (p.Lys40Ter) c.112A>T (p.Lys38Ter) n.550A>T | |
| 7 | g.44153394T>C | CA367403507 | GCK | c.*113A>G (n.*113A>G) c.115A>G (p.Lys39Glu) n.601A>G c.118A>G (p.Lys40Glu) c.112A>G (p.Lys38Glu) n.550A>G | |
| 7 | g.44153394T>G | CA367403508 | GCK | c.*113A>C (n.*113A>C) c.115A>C (p.Lys39Gln) n.601A>C c.118A>C (p.Lys40Gln) c.112A>C (p.Lys38Gln) n.550A>C | |
| 7 | g.44153395C>A | CA367403511 | GCK | c.*112G>T (n.*112G>T) c.114G>T (p.Gln38His) n.600G>T c.117G>T (p.Gln39His) c.111G>T (p.Gln37His) n.549G>T | |
| 7 | g.44153395C>G | CA367403520 | GCK | c.*112G>C (n.*112G>C) c.114G>C (p.Gln38His) n.600G>C c.117G>C (p.Gln39His) c.111G>C (p.Gln37His) n.549G>C | |
| 7 | g.44153395C>T | CA454610619 | GCK | c.*112G>A (n.*112G>A) c.114G>A (p.Gln38=) n.600G>A c.117G>A (p.Gln39=) c.111G>A (p.Gln37=) n.549G>A | |
| 7 | g.44153396T>A | CA367403522 | GCK | c.*111A>T (n.*111A>T) c.113A>T (p.Gln38Leu) n.599A>T c.116A>T (p.Gln39Leu) c.110A>T (p.Gln37Leu) n.548A>T | ClinVar |
| 7 | g.44153396T>C | CA367403526 | GCK | c.*111A>G (n.*111A>G) c.113A>G (p.Gln38Arg) n.599A>G c.116A>G (p.Gln39Arg) c.110A>G (p.Gln37Arg) n.548A>G | |
| 7 | g.44153396T>G | CA16618475 | GCK | c.*111A>C (n.*111A>C) c.113A>C (p.Gln38Pro) n.599A>C c.116A>C (p.Gln39Pro) c.110A>C (p.Gln37Pro) n.548A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153396T= | CA1703637560 | GCK | c.*111A= (n.*111A=) c.113A= (p.Gln38=) n.599A= c.116A= (p.Gln39=) c.110A= (p.Gln37=) n.548A= | |
| 7 | g.44153397G>A | CA10581556 | GCK | c.*110C>T (n.*110C>T) c.112C>T (p.Gln38Ter) n.598C>T c.115C>T (p.Gln39Ter) c.109C>T (p.Gln37Ter) n.547C>T | ClinVar dbSNP |
| 7 | g.44153397G>C | CA367403533 | GCK | c.*110C>G (n.*110C>G) c.112C>G (p.Gln38Glu) n.598C>G c.115C>G (p.Gln39Glu) c.109C>G (p.Gln37Glu) n.547C>G | |
| 7 | g.44153397G= | CA1703637561 | GCK | c.*110C= (n.*110C=) c.112C= (p.Gln38=) n.598C= c.115C= (p.Gln39=) c.109C= (p.Gln37=) n.547C= | |
| 7 | g.44153397G>T | CA367403530 | GCK | c.*110C>A (n.*110C>A) c.112C>A (p.Gln38Lys) n.598C>A c.115C>A (p.Gln39Lys) c.109C>A (p.Gln37Lys) n.547C>A | |
| 7 | g.44153398C>A | CA367403537 | GCK | c.*109G>T (n.*109G>T) c.111G>T (p.Met37Ile) n.597G>T c.114G>T (p.Met38Ile) c.108G>T (p.Met36Ile) n.546G>T | |
| 7 | g.44153398C>G | CA367403539 | GCK | c.*109G>C (n.*109G>C) c.111G>C (p.Met37Ile) n.597G>C c.114G>C (p.Met38Ile) c.108G>C (p.Met36Ile) n.546G>C | |
| 7 | g.44153398C>T | CA367403540 | GCK | c.*109G>A (n.*109G>A) c.111G>A (p.Met37Ile) n.597G>A c.114G>A (p.Met38Ile) c.108G>A (p.Met36Ile) n.546G>A | |
| 7 | g.44153399A>C | CA367403541 | GCK | c.*108T>G (n.*108T>G) c.110T>G (p.Met37Arg) n.596T>G c.113T>G (p.Met38Arg) c.107T>G (p.Met36Arg) n.545T>G | ClinVar |
| 7 | g.44153399A>G | CA367403544 | GCK | c.*108T>C (n.*108T>C) c.110T>C (p.Met37Thr) n.596T>C c.113T>C (p.Met38Thr) c.107T>C (p.Met36Thr) n.545T>C | ClinVar |
| 7 | g.44153399A>T | CA367403546 | GCK | c.*108T>A (n.*108T>A) c.110T>A (p.Met37Lys) n.596T>A c.113T>A (p.Met38Lys) c.107T>A (p.Met36Lys) n.545T>A | ClinVar |
| 7 | g.44153400T>A | CA367403550 | GCK | c.*107A>T (n.*107A>T) c.109A>T (p.Met37Leu) n.595A>T c.112A>T (p.Met38Leu) c.106A>T (p.Met36Leu) n.544A>T | |
| 7 | g.44153400T>C | CA367403551 | GCK | c.*107A>G (n.*107A>G) c.109A>G (p.Met37Val) n.595A>G c.112A>G (p.Met38Val) c.106A>G (p.Met36Val) n.544A>G | ClinVar |
| 7 | g.44153400T>G | CA367403553 | GCK | c.*107A>C (n.*107A>C) c.109A>C (p.Met37Leu) n.595A>C c.112A>C (p.Met38Leu) c.106A>C (p.Met36Leu) n.544A>C | |
| 7 | g.44153401C>A | CA454610624 | GCK | c.*106G>T (n.*106G>T) c.108G>T (p.Arg36=) n.594G>T c.111G>T (p.Arg37=) c.105G>T (p.Arg35=) n.543G>T | |
| 7 | g.44153401C= | CA1703637562 | GCK | c.*106G= (n.*106G=) c.108G= (p.Arg36=) n.594G= c.111G= (p.Arg37=) c.105G= (p.Arg35=) n.543G= | |
| 7 | g.44153401C>G | CA454610626 | GCK | c.*106G>C (n.*106G>C) c.108G>C (p.Arg36=) n.594G>C c.111G>C (p.Arg37=) c.105G>C (p.Arg35=) n.543G>C | |
| 7 | g.44153401C>T | CA4239719 | GCK | c.*106G>A (n.*106G>A) c.108G>A (p.Arg36=) n.594G>A c.111G>A (p.Arg37=) c.105G>A (p.Arg35=) n.543G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153402C>A | CA367403558 | GCK | c.*105G>T (n.*105G>T) c.107G>T (p.Arg36Leu) n.593G>T c.110G>T (p.Arg37Leu) c.104G>T (p.Arg35Leu) n.542G>T | |
| 7 | g.44153402C= | CA1703637563 | GCK | c.*105G= (n.*105G=) c.107G= (p.Arg36=) n.593G= c.110G= (p.Arg37=) c.104G= (p.Arg35=) n.542G= | |
| 7 | g.44153402C>G | CA213709 | GCK | c.*105G>C (n.*105G>C) c.107G>C (p.Arg36Pro) n.593G>C c.110G>C (p.Arg37Pro) c.104G>C (p.Arg35Pro) n.542G>C | ClinVar dbSNP |
| 7 | g.44153402C>T | CA367403564 | GCK | c.*105G>A (n.*105G>A) c.107G>A (p.Arg36Gln) n.593G>A c.110G>A (p.Arg37Gln) c.104G>A (p.Arg35Gln) n.542G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>A | CA4239720 | GCK | c.*104C>T (n.*104C>T) c.106C>T (p.Arg36Trp) n.592C>T c.109C>T (p.Arg37Trp) c.103C>T (p.Arg35Trp) n.541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>C | CA367403568 | GCK | c.*104C>G (n.*104C>G) c.106C>G (p.Arg36Gly) n.592C>G c.109C>G (p.Arg37Gly) c.103C>G (p.Arg35Gly) n.541C>G | |
| 7 | g.44153403G= | CA1703637564 | GCK | c.*104C= (n.*104C=) c.106C= (p.Arg36=) n.592C= c.109C= (p.Arg37=) c.103C= (p.Arg35=) n.541C= | |
| 7 | g.44153403G>T | CA454610627 | GCK | c.*104C>A (n.*104C>A) c.106C>A (p.Arg36=) n.592C>A c.109C>A (p.Arg37=) c.103C>A (p.Arg35=) n.541C>A | gnomAD v4 |
| 7 | g.44153404T>A | CA367403569 | GCK | c.*103A>T (n.*103A>T) c.105A>T (p.Arg35Ser) n.591A>T c.108A>T (p.Arg36Ser) c.102A>T (p.Arg34Ser) n.540A>T | |
| 7 | g.44153404T>C | CA454610629 | GCK | c.*103A>G (n.*103A>G) c.105A>G (p.Arg35=) n.591A>G c.108A>G (p.Arg36=) c.102A>G (p.Arg34=) n.540A>G | |
| 7 | g.44153404T>G | CA367403571 | GCK | c.*103A>C (n.*103A>C) c.105A>C (p.Arg35Ser) n.591A>C c.108A>C (p.Arg36Ser) c.102A>C (p.Arg34Ser) n.540A>C | |
| 7 | g.44153405C>A | CA367403573 | GCK | c.*102G>T (n.*102G>T) c.104G>T (p.Arg35Ile) n.590G>T c.107G>T (p.Arg36Ile) c.101G>T (p.Arg34Ile) n.539G>T | |
| 7 | g.44153405C= | CA1703637565 | GCK | c.*102G= (n.*102G=) c.104G= (p.Arg35=) n.590G= c.107G= (p.Arg36=) c.101G= (p.Arg34=) n.539G= | |
| 7 | g.44153405C>G | CA367403576 | GCK | c.*102G>C (n.*102G>C) c.104G>C (p.Arg35Thr) n.590G>C c.107G>C (p.Arg36Thr) c.101G>C (p.Arg34Thr) n.539G>C | gnomAD v4 |
| 7 | g.44153405C>T | CA367403578 | GCK | c.*102G>A (n.*102G>A) c.104G>A (p.Arg35Lys) n.590G>A c.107G>A (p.Arg36Lys) c.101G>A (p.Arg34Lys) n.539G>A | dbSNP gnomAD v2 |
| 7 | g.44153406T>A | CA213705 | GCK | c.*101A>T (n.*101A>T) c.103A>T (p.Arg35Ter) n.589A>T c.106A>T (p.Arg36Ter) c.100A>T (p.Arg34Ter) n.538A>T | ClinVar dbSNP |
| 7 | g.44153406T>C | CA367403581 | GCK | c.*101A>G (n.*101A>G) c.103A>G (p.Arg35Gly) n.589A>G c.106A>G (p.Arg36Gly) c.100A>G (p.Arg34Gly) n.538A>G | |
| 7 | g.44153406T>G | CA454610630 | GCK | c.*101A>C (n.*101A>C) c.103A>C (p.Arg35=) n.589A>C c.106A>C (p.Arg36=) c.100A>C (p.Arg34=) n.538A>C | |
| 7 | g.44153406T= | CA1703637566 | GCK | c.*101A= (n.*101A=) c.103A= (p.Arg35=) n.589A= c.106A= (p.Arg36=) c.100A= (p.Arg34=) n.538A= | |
| 7 | g.44153407C>A | CA367403583 | GCK | c.*100G>T (n.*100G>T) c.102G>T (p.Met34Ile) n.588G>T c.105G>T (p.Met35Ile) c.99G>T (p.Met33Ile) n.537G>T | |
| 7 | g.44153407C= | CA1703637567 | GCK | c.*100G= (n.*100G=) c.102G= (p.Met34=) n.588G= c.105G= (p.Met35=) c.99G= (p.Met33=) n.537G= | |
| 7 | g.44153407C>G | CA367403585 | GCK | c.*100G>C (n.*100G>C) c.102G>C (p.Met34Ile) n.588G>C c.105G>C (p.Met35Ile) c.99G>C (p.Met33Ile) n.537G>C | |
| 7 | g.44153407C>T | CA367403586 | GCK | c.*100G>A (n.*100G>A) c.102G>A (p.Met34Ile) n.588G>A c.105G>A (p.Met35Ile) c.99G>A (p.Met33Ile) n.537G>A | ClinVar dbSNP |
| 7 | g.44153408A>C | CA367403589 | GCK | c.*99T>G (n.*99T>G) c.101T>G (p.Met34Arg) n.587T>G c.104T>G (p.Met35Arg) c.98T>G (p.Met33Arg) n.536T>G | |
| 7 | g.44153408A>G | CA367403591 | GCK | c.*99T>C (n.*99T>C) c.101T>C (p.Met34Thr) n.587T>C c.104T>C (p.Met35Thr) c.98T>C (p.Met33Thr) n.536T>C | gnomAD v4 |
| 7 | g.44153408A>T | CA367403593 | GCK | c.*99T>A (n.*99T>A) c.101T>A (p.Met34Lys) n.587T>A c.104T>A (p.Met35Lys) c.98T>A (p.Met33Lys) n.536T>A | |
| 7 | g.44153409T>A | CA367403601 | GCK | c.*98A>T (n.*98A>T) c.100A>T (p.Met34Leu) n.586A>T c.103A>T (p.Met35Leu) c.97A>T (p.Met33Leu) n.535A>T | |
| 7 | g.44153409T>C | CA367403596 | GCK | c.*98A>G (n.*98A>G) c.100A>G (p.Met34Val) n.586A>G c.103A>G (p.Met35Val) c.97A>G (p.Met33Val) n.535A>G | |
| 7 | g.44153409T>G | CA367403598 | GCK | c.*98A>C (n.*98A>C) c.100A>C (p.Met34Leu) n.586A>C c.103A>C (p.Met35Leu) c.97A>C (p.Met33Leu) n.535A>C | |
| 7 | g.44153410C>A | CA454610633 | GCK | c.*97G>T (n.*97G>T) c.99G>T (p.Val33=) n.585G>T c.102G>T (p.Val34=) c.96G>T (p.Val32=) n.534G>T | |
| 7 | g.44153410C= | CA1703637568 | GCK | c.*97G= (n.*97G=) c.99G= (p.Val33=) n.585G= c.102G= (p.Val34=) c.96G= (p.Val32=) n.534G= | |
| 7 | g.44153410C>G | CA454610634 | GCK | c.*97G>C (n.*97G>C) c.99G>C (p.Val33=) n.585G>C c.102G>C (p.Val34=) c.96G>C (p.Val32=) n.534G>C | |
| 7 | g.44153410C>T | CA157920076 | GCK | c.*97G>A (n.*97G>A) c.99G>A (p.Val33=) n.585G>A c.102G>A (p.Val34=) c.96G>A (p.Val32=) n.534G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153411A= | CA1703637569 | GCK | c.*96T= (n.*96T=) c.98T= (p.Val33=) n.584T= c.101T= (p.Val34=) c.95T= (p.Val32=) n.533T= | |
| 7 | g.44153411A>C | CA367403603 | GCK | c.*96T>G (n.*96T>G) c.98T>G (p.Val33Gly) n.584T>G c.101T>G (p.Val34Gly) c.95T>G (p.Val32Gly) n.533T>G | ClinVar dbSNP |
| 7 | g.44153411A>G | CA367403604 | GCK | c.*96T>C (n.*96T>C) c.98T>C (p.Val33Ala) n.584T>C c.101T>C (p.Val34Ala) c.95T>C (p.Val32Ala) n.533T>C | ClinVar dbSNP |
| 7 | g.44153411A>T | CA367403606 | GCK | c.*96T>A (n.*96T>A) c.98T>A (p.Val33Glu) n.584T>A c.101T>A (p.Val34Glu) c.95T>A (p.Val32Glu) n.533T>A | ClinVar dbSNP |
| 7 | g.44153412C>A | CA367403609 | GCK | c.*95G>T (n.*95G>T) c.97G>T (p.Val33Leu) n.583G>T c.100G>T (p.Val34Leu) c.94G>T (p.Val32Leu) n.532G>T | gnomAD v4 |
| 7 | g.44153412C>G | CA367403611 | GCK | c.*95G>C (n.*95G>C) c.97G>C (p.Val33Leu) n.583G>C c.100G>C (p.Val34Leu) c.94G>C (p.Val32Leu) n.532G>C | |
| 7 | g.44153412C>T | CA367403613 | GCK | c.*95G>A (n.*95G>A) c.97G>A (p.Val33Met) n.583G>A c.100G>A (p.Val34Met) c.94G>A (p.Val32Met) n.532G>A | |
| 7 | g.44153413C>A | CA367403615 | GCK | c.*94G>T (n.*94G>T) c.96G>T (p.Lys32Asn) n.582G>T c.99G>T (p.Lys33Asn) c.93G>T (p.Lys31Asn) n.531G>T | |
| 7 | g.44153413C>G | CA367403617 | GCK | c.*94G>C (n.*94G>C) c.96G>C (p.Lys32Asn) n.582G>C c.99G>C (p.Lys33Asn) c.93G>C (p.Lys31Asn) n.531G>C | |
| 7 | g.44153413C>T | CA454610639 | GCK | c.*94G>A (n.*94G>A) c.96G>A (p.Lys32=) n.582G>A c.99G>A (p.Lys33=) c.93G>A (p.Lys31=) n.531G>A | gnomAD v4 |
| 7 | g.44153417_44153419del | CA2695203029 | GCK | c.*92_*94del (n.*92_*94del) c.94_96del (p.Lys32del) n.580_582del c.97_99del (p.Lys33del) c.91_93del (p.Lys31del) n.529_531del | |
| 7 | g.44153414T>A | CA367403619 | GCK | c.*93A>T (n.*93A>T) c.95A>T (p.Lys32Met) n.581A>T c.98A>T (p.Lys33Met) c.92A>T (p.Lys31Met) n.530A>T | |
| 7 | g.44153414T>C | CA367403622 | GCK | c.*93A>G (n.*93A>G) c.95A>G (p.Lys32Arg) n.581A>G c.98A>G (p.Lys33Arg) c.92A>G (p.Lys31Arg) n.530A>G | |
| 7 | g.44153414T>G | CA367403624 | GCK | c.*93A>C (n.*93A>C) c.95A>C (p.Lys32Thr) n.581A>C c.98A>C (p.Lys33Thr) c.92A>C (p.Lys31Thr) n.530A>C | |
| 7 | g.44153415T>A | CA367403626 | GCK | c.*92A>T (n.*92A>T) c.94A>T (p.Lys32Ter) n.580A>T c.97A>T (p.Lys33Ter) c.91A>T (p.Lys31Ter) n.529A>T | |
| 7 | g.44153415T>C | CA367403628 | GCK | c.*92A>G (n.*92A>G) c.94A>G (p.Lys32Glu) n.580A>G c.97A>G (p.Lys33Glu) c.91A>G (p.Lys31Glu) n.529A>G | gnomAD v4 |
| 7 | g.44153415T>G | CA367403630 | GCK | c.*92A>C (n.*92A>C) c.94A>C (p.Lys32Gln) n.580A>C c.97A>C (p.Lys33Gln) c.91A>C (p.Lys31Gln) n.529A>C | |
| 7 | g.44153416C>A | CA367403634 | GCK | c.*91G>T (n.*91G>T) c.93G>T (p.Lys31Asn) n.579G>T c.96G>T (p.Lys32Asn) c.90G>T (p.Lys30Asn) n.528G>T | |
| 7 | g.44153416C= | CA1703637570 | GCK | c.*91G= (n.*91G=) c.93G= (p.Lys31=) n.579G= c.96G= (p.Lys32=) c.90G= (p.Lys30=) n.528G= | |
| 7 | g.44153416C>G | CA367403632 | GCK | c.*91G>C (n.*91G>C) c.93G>C (p.Lys31Asn) n.579G>C c.96G>C (p.Lys32Asn) c.90G>C (p.Lys30Asn) n.528G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153416C>T | CA454610643 | GCK | c.*91G>A (n.*91G>A) c.93G>A (p.Lys31=) n.579G>A c.96G>A (p.Lys32=) c.90G>A (p.Lys30=) n.528G>A | |
| 7 | g.44153417T>A | CA367403638 | GCK | c.*90A>T (n.*90A>T) c.92A>T (p.Lys31Met) n.578A>T c.95A>T (p.Lys32Met) c.89A>T (p.Lys30Met) n.527A>T | |
| 7 | g.44153417T>C | CA367403640 | GCK | c.*90A>G (n.*90A>G) c.92A>G (p.Lys31Arg) n.578A>G c.95A>G (p.Lys32Arg) c.89A>G (p.Lys30Arg) n.527A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153417T>G | CA367403641 | GCK | c.*90A>C (n.*90A>C) c.92A>C (p.Lys31Thr) n.578A>C c.95A>C (p.Lys32Thr) c.89A>C (p.Lys30Thr) n.527A>C | |
| 7 | g.44153417T= | CA1703637571 | GCK | c.*90A= (n.*90A=) c.92A= (p.Lys31=) n.578A= c.95A= (p.Lys32=) c.89A= (p.Lys30=) n.527A= | |
| 7 | g.44153418dup | CA2588340110 | GCK | c.*90dup (n.*90dup) c.92dup (p.Lys32GlufsTer20) n.578dup c.95dup (p.Lys33GlufsTer20) c.89dup (p.Lys31GlufsTer20) n.527dup | |
| 7 | g.44153418T>A | CA367403644 | GCK | c.*89A>T (n.*89A>T) c.91A>T (p.Lys31Ter) n.577A>T c.94A>T (p.Lys32Ter) c.88A>T (p.Lys30Ter) n.526A>T | |
| 7 | g.44153418T>C | CA367403646 | GCK | c.*89A>G (n.*89A>G) c.91A>G (p.Lys31Glu) n.577A>G c.94A>G (p.Lys32Glu) c.88A>G (p.Lys30Glu) n.526A>G | |
| 7 | g.44153418T>G | CA367403648 | GCK | c.*89A>C (n.*89A>C) c.91A>C (p.Lys31Gln) n.577A>C c.94A>C (p.Lys32Gln) c.88A>C (p.Lys30Gln) n.526A>C | |
| 7 | g.44153419C>A | CA454610648 | GCK | c.*88G>T (n.*88G>T) c.90G>T (p.Leu30=) n.576G>T c.93G>T (p.Leu31=) c.87G>T (p.Leu29=) n.525G>T | COSMIC COSMIC COSMIC |
| 7 | g.44153419C>G | CA454610649 | GCK | c.*88G>C (n.*88G>C) c.90G>C (p.Leu30=) n.576G>C c.93G>C (p.Leu31=) c.87G>C (p.Leu29=) n.525G>C | |
| 7 | g.44153419C>T | CA454610650 | GCK | c.*88G>A (n.*88G>A) c.90G>A (p.Leu30=) n.576G>A c.93G>A (p.Leu31=) c.87G>A (p.Leu29=) n.525G>A | COSMIC COSMIC COSMIC |
| 7 | g.44153420del | CA2695203030 | GCK | c.*87del (n.*87del) c.89del (p.Leu30ArgfsTer4) n.575del c.92del (p.Leu31ArgfsTer4) c.86del (p.Leu29ArgfsTer4) n.524del | |
| 7 | g.44153420A= | CA1703637572 | GCK | c.*87T= (n.*87T=) c.89T= (p.Leu30=) n.575T= c.92T= (p.Leu31=) c.86T= (p.Leu29=) n.524T= | |
| 7 | g.44153420A>C | CA367403650 | GCK | c.*87T>G (n.*87T>G) c.89T>G (p.Leu30Arg) n.575T>G c.92T>G (p.Leu31Arg) c.86T>G (p.Leu29Arg) n.524T>G | |
| 7 | g.44153420A>G | CA10581225 | GCK | c.*87T>C (n.*87T>C) c.89T>C (p.Leu30Pro) n.575T>C c.92T>C (p.Leu31Pro) c.86T>C (p.Leu29Pro) n.524T>C | ClinVar dbSNP |
| 7 | g.44153420A>T | CA367403652 | GCK | c.*87T>A (n.*87T>A) c.89T>A (p.Leu30Gln) n.575T>A c.92T>A (p.Leu31Gln) c.86T>A (p.Leu29Gln) n.524T>A | gnomAD v4 |
| 7 | g.44153421G>A | CA454610651 | GCK | c.*86C>T (n.*86C>T) c.88C>T (p.Leu30=) n.574C>T c.91C>T (p.Leu31=) c.85C>T (p.Leu29=) n.523C>T | |
| 7 | g.44153421G>C | CA367403654 | GCK | c.*86C>G (n.*86C>G) c.88C>G (p.Leu30Val) n.574C>G c.91C>G (p.Leu31Val) c.85C>G (p.Leu29Val) n.523C>G | |
| 7 | g.44153421G>T | CA367403656 | GCK | c.*86C>A (n.*86C>A) c.88C>A (p.Leu30Met) n.574C>A c.91C>A (p.Leu31Met) c.85C>A (p.Leu29Met) n.523C>A | |
| 7 | g.44153422G>A | CA454610652 | GCK | c.*85C>T (n.*85C>T) c.87C>T (p.Asp29=) n.573C>T c.90C>T (p.Asp30=) c.84C>T (p.Asp28=) n.522C>T | |
| 7 | g.44153422G>C | CA367403657 | GCK | c.*85C>G (n.*85C>G) c.87C>G (p.Asp29Glu) n.573C>G c.90C>G (p.Asp30Glu) c.84C>G (p.Asp28Glu) n.522C>G | |
| 7 | g.44153422G>T | CA367403658 | GCK | c.*85C>A (n.*85C>A) c.87C>A (p.Asp29Glu) n.573C>A c.90C>A (p.Asp30Glu) c.84C>A (p.Asp28Glu) n.522C>A | COSMIC COSMIC COSMIC |
| 7 | g.44153423del | CA2573142155 | GCK | c.*84del (n.*84del) c.86del (p.Asp29AlafsTer2) n.572del c.89del (p.Asp30AlafsTer2) c.83del (p.Asp28AlafsTer2) n.521del | ClinVar dbSNP |
| 7 | g.44153423T>A | CA367403660 | GCK | c.*84A>T (n.*84A>T) c.86A>T (p.Asp29Val) n.572A>T c.89A>T (p.Asp30Val) c.83A>T (p.Asp28Val) n.521A>T | |
| 7 | g.44153423T>C | CA367403665 | GCK | c.*84A>G (n.*84A>G) c.86A>G (p.Asp29Gly) n.572A>G c.89A>G (p.Asp30Gly) c.83A>G (p.Asp28Gly) n.521A>G | COSMIC COSMIC COSMIC |
| 7 | g.44153423T>G | CA367403662 | GCK | c.*84A>C (n.*84A>C) c.86A>C (p.Asp29Ala) n.572A>C c.89A>C (p.Asp30Ala) c.83A>C (p.Asp28Ala) n.521A>C | |
| 7 | g.44153430_44153432del | CA2682576761 | GCK | c.*82_*84del (n.*82_*84del) c.84_86del (p.Glu28del) n.570_572del c.87_89del (p.Glu29del) c.81_83del (p.Glu27del) n.519_521del | gnomAD v4 |
| 7 | g.44153424C>A | CA367403666 | GCK | c.*83G>T (n.*83G>T) c.85G>T (p.Asp29Tyr) n.571G>T c.88G>T (p.Asp30Tyr) c.82G>T (p.Asp28Tyr) n.520G>T | ClinVar |
| 7 | g.44153424C>G | CA367403671 | GCK | c.*83G>C (n.*83G>C) c.85G>C (p.Asp29His) n.571G>C c.88G>C (p.Asp30His) c.82G>C (p.Asp28His) n.520G>C | |
| 7 | g.44153424C>T | CA367403669 | GCK | c.*83G>A (n.*83G>A) c.85G>A (p.Asp29Asn) n.571G>A c.88G>A (p.Asp30Asn) c.82G>A (p.Asp28Asn) n.520G>A | |
| 7 | g.44153425C>A | CA367403674 | GCK | c.*82G>T (n.*82G>T) c.84G>T (p.Glu28Asp) n.570G>T c.87G>T (p.Glu29Asp) c.81G>T (p.Glu27Asp) n.519G>T | |
| 7 | g.44153425C>G | CA367403677 | GCK | c.*82G>C (n.*82G>C) c.84G>C (p.Glu28Asp) n.570G>C c.87G>C (p.Glu29Asp) c.81G>C (p.Glu27Asp) n.519G>C | |
| 7 | g.44153425C>T | CA454610654 | GCK | c.*82G>A (n.*82G>A) c.84G>A (p.Glu28=) n.570G>A c.87G>A (p.Glu29=) c.81G>A (p.Glu27=) n.519G>A | |
| 7 | g.44153426del | CA2695203031 | GCK | c.*81del (n.*81del) c.83del (p.Glu28GlyfsTer3) n.569del c.86del (p.Glu29GlyfsTer3) c.80del (p.Glu27GlyfsTer3) n.518del | |
| 7 | g.44153426T>A | CA367403679 | GCK | c.*81A>T (n.*81A>T) c.83A>T (p.Glu28Val) n.569A>T c.86A>T (p.Glu29Val) c.80A>T (p.Glu27Val) n.518A>T | |
| 7 | g.44153426T>C | CA367403680 | GCK | c.*81A>G (n.*81A>G) c.83A>G (p.Glu28Gly) n.569A>G c.86A>G (p.Glu29Gly) c.80A>G (p.Glu27Gly) n.518A>G | |
| 7 | g.44153426T>G | CA367403683 | GCK | c.*81A>C (n.*81A>C) c.83A>C (p.Glu28Ala) n.569A>C c.86A>C (p.Glu29Ala) c.80A>C (p.Glu27Ala) n.518A>C | |
| 7 | g.44153427C>A | CA367403685 | GCK | c.*80G>T (n.*80G>T) c.82G>T (p.Glu28Ter) n.568G>T c.85G>T (p.Glu29Ter) c.79G>T (p.Glu27Ter) n.517G>T | |
| 7 | g.44153427C>G | CA367403688 | GCK | c.*80G>C (n.*80G>C) c.82G>C (p.Glu28Gln) n.568G>C c.85G>C (p.Glu29Gln) c.79G>C (p.Glu27Gln) n.517G>C | |
| 7 | g.44153427C>T | CA367403690 | GCK | c.*80G>A (n.*80G>A) c.82G>A (p.Glu28Lys) n.568G>A c.85G>A (p.Glu29Lys) c.79G>A (p.Glu27Lys) n.517G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153428C>A | CA367403691 | GCK | c.*79G>T (n.*79G>T) c.81G>T (p.Glu27Asp) n.567G>T c.84G>T (p.Glu28Asp) c.78G>T (p.Glu26Asp) n.516G>T | |
| 7 | g.44153428C>G | CA367403693 | GCK | c.*79G>C (n.*79G>C) c.81G>C (p.Glu27Asp) n.567G>C c.84G>C (p.Glu28Asp) c.78G>C (p.Glu26Asp) n.516G>C | |
| 7 | g.44153428C>T | CA454610659 | GCK | c.*79G>A (n.*79G>A) c.81G>A (p.Glu27=) n.567G>A c.84G>A (p.Glu28=) c.78G>A (p.Glu26=) n.516G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153429T>A | CA367403696 | GCK | c.*78A>T (n.*78A>T) c.80A>T (p.Glu27Val) n.566A>T c.83A>T (p.Glu28Val) c.77A>T (p.Glu26Val) n.515A>T | |
| 7 | g.44153429T>C | CA367403698 | GCK | c.*78A>G (n.*78A>G) c.80A>G (p.Glu27Gly) n.566A>G c.83A>G (p.Glu28Gly) c.77A>G (p.Glu26Gly) n.515A>G | |
| 7 | g.44153429T>G | CA367403702 | GCK | c.*78A>C (n.*78A>C) c.80A>C (p.Glu27Ala) n.566A>C c.83A>C (p.Glu28Ala) c.77A>C (p.Glu26Ala) n.515A>C | |
| 7 | g.44153430C>A | CA367403704 | GCK | c.*77G>T (n.*77G>T) c.79G>T (p.Glu27Ter) n.565G>T c.82G>T (p.Glu28Ter) c.76G>T (p.Glu26Ter) n.514G>T | |
| 7 | g.44153430C= | CA1703637573 | GCK | c.*77G= (n.*77G=) c.79G= (p.Glu27=) n.565G= c.82G= (p.Glu28=) c.76G= (p.Glu26=) n.514G= | |
| 7 | g.44153430C>G | CA367403709 | GCK | c.*77G>C (n.*77G>C) c.79G>C (p.Glu27Gln) n.565G>C c.82G>C (p.Glu28Gln) c.76G>C (p.Glu26Gln) n.514G>C | dbSNP |
| 7 | g.44153430C>T | CA367403707 | GCK | c.*77G>A (n.*77G>A) c.79G>A (p.Glu27Lys) n.565G>A c.82G>A (p.Glu28Lys) c.76G>A (p.Glu26Lys) n.514G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153431C>A | CA367403711 | GCK | c.*76G>T (n.*76G>T) c.78G>T (p.Gln26His) n.564G>T c.81G>T (p.Gln27His) c.75G>T (p.Gln25His) n.513G>T | |
| 7 | g.44153431C>G | CA367403713 | GCK | c.*76G>C (n.*76G>C) c.78G>C (p.Gln26His) n.564G>C c.81G>C (p.Gln27His) c.75G>C (p.Gln25His) n.513G>C | |
| 7 | g.44153431C>T | CA454610662 | GCK | c.*76G>A (n.*76G>A) c.78G>A (p.Gln26=) n.564G>A c.81G>A (p.Gln27=) c.75G>A (p.Gln25=) n.513G>A | |
| 7 | g.44153432T>A | CA367403715 | GCK | c.*75A>T (n.*75A>T) c.77A>T (p.Gln26Leu) n.563A>T c.80A>T (p.Gln27Leu) c.74A>T (p.Gln25Leu) n.512A>T | |
| 7 | g.44153432T>C | CA367403718 | GCK | c.*75A>G (n.*75A>G) c.77A>G (p.Gln26Arg) n.563A>G c.80A>G (p.Gln27Arg) c.74A>G (p.Gln25Arg) n.512A>G | dbSNP |
| 7 | g.44153432T>G | CA367403719 | GCK | c.*75A>C (n.*75A>C) c.77A>C (p.Gln26Pro) n.563A>C c.80A>C (p.Gln27Pro) c.74A>C (p.Gln25Pro) n.512A>C | |
| 7 | g.44153432T= | CA1703637574 | GCK | c.*75A= (n.*75A=) c.77A= (p.Gln26=) n.563A= c.80A= (p.Gln27=) c.74A= (p.Gln25=) n.512A= | |
| 7 | g.44153433del | CA2695203032 | GCK | c.*74del (n.*74del) c.76del (p.Gln26ArgfsTer5) n.562del c.79del (p.Gln27ArgfsTer5) c.73del (p.Gln25ArgfsTer5) n.511del | |
| 7 | g.44153433G>A | CA213850 | GCK | c.*74C>T (n.*74C>T) c.76C>T (p.Gln26Ter) n.562C>T c.79C>T (p.Gln27Ter) c.73C>T (p.Gln25Ter) n.511C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153433G>C | CA367403723 | GCK | c.*74C>G (n.*74C>G) c.76C>G (p.Gln26Glu) n.562C>G c.79C>G (p.Gln27Glu) c.73C>G (p.Gln25Glu) n.511C>G | |
| 7 | g.44153433G= | CA1703637575 | GCK | c.*74C= (n.*74C=) c.76C= (p.Gln26=) n.562C= c.79C= (p.Gln27=) c.73C= (p.Gln25=) n.511C= | |
| 7 | g.44153433G>T | CA367403728 | GCK | c.*74C>A (n.*74C>A) c.76C>A (p.Gln26Lys) n.562C>A c.79C>A (p.Gln27Lys) c.73C>A (p.Gln25Lys) n.511C>A | |
| 7 | g.44153434C>A | CA454610665 | GCK | c.*73G>T (n.*73G>T) c.75G>T (p.Leu25=) n.561G>T c.78G>T (p.Leu26=) c.72G>T (p.Leu24=) n.510G>T | |
| 7 | g.44153434C>G | CA454610666 | GCK | c.*73G>C (n.*73G>C) c.75G>C (p.Leu25=) n.561G>C c.78G>C (p.Leu26=) c.72G>C (p.Leu24=) n.510G>C | |
| 7 | g.44153434C>T | CA454610667 | GCK | c.*73G>A (n.*73G>A) c.75G>A (p.Leu25=) n.561G>A c.78G>A (p.Leu26=) c.72G>A (p.Leu24=) n.510G>A |