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.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44150993G>A | CA367401951 | GCK | c.*444C>T (n.*444C>T) c.446C>T (p.Thr149Ile) n.932C>T c.449C>T (p.Thr150Ile) c.443C>T (p.Thr148Ile) c.395C>T (p.Thr132Ile) | dbSNP |
| 7 | g.44150993G>C | CA367401952 | GCK | c.*444C>G (n.*444C>G) c.446C>G (p.Thr149Ser) n.932C>G c.449C>G (p.Thr150Ser) c.443C>G (p.Thr148Ser) c.395C>G (p.Thr132Ser) | |
| 7 | g.44150993G>T | CA367401954 | GCK | c.*444C>A (n.*444C>A) c.446C>A (p.Thr149Asn) n.932C>A c.449C>A (p.Thr150Asn) c.443C>A (p.Thr148Asn) c.395C>A (p.Thr132Asn) | |
| 7 | g.44150994T>A | CA367401955 | GCK | c.*443A>T (n.*443A>T) c.445A>T (p.Thr149Ser) n.931A>T c.448A>T (p.Thr150Ser) c.442A>T (p.Thr148Ser) c.394A>T (p.Thr132Ser) | |
| 7 | g.44150994T>C | CA367401956 | GCK | c.*443A>G (n.*443A>G) c.445A>G (p.Thr149Ala) n.931A>G c.448A>G (p.Thr150Ala) c.442A>G (p.Thr148Ala) c.394A>G (p.Thr132Ala) | |
| 7 | g.44150994T>G | CA367401958 | GCK | c.*443A>C (n.*443A>C) c.445A>C (p.Thr149Pro) n.931A>C c.448A>C (p.Thr150Pro) c.442A>C (p.Thr148Pro) c.394A>C (p.Thr132Pro) | |
| 7 | g.44150994dup | CA2580077137 | GCK | c.*443dup (n.*443dup) c.445dup (p.Thr149AsnfsTer13) n.931dup c.448dup (p.Thr150AsnfsTer13) c.442dup (p.Thr148AsnfsTer13) c.394dup (p.Thr132AsnfsTer13) | ClinVar |
| 7 | g.44150995G>A | CA157918138 | GCK | c.*442C>T (n.*442C>T) c.444C>T (p.Phe148=) n.930C>T c.447C>T (p.Phe149=) c.441C>T (p.Phe147=) c.393C>T (p.Phe131=) | dbSNP |
| 7 | g.44150995G>C | CA367401960 | GCK | c.*442C>G (n.*442C>G) c.444C>G (p.Phe148Leu) n.930C>G c.447C>G (p.Phe149Leu) c.441C>G (p.Phe147Leu) c.393C>G (p.Phe131Leu) | |
| 7 | g.44150995G= | CA1703636452 | GCK | c.*442C= (n.*442C=) c.444C= (p.Phe148=) n.930C= c.447C= (p.Phe149=) c.441C= (p.Phe147=) c.393C= (p.Phe131=) | |
| 7 | g.44150995G>T | CA367401961 | GCK | c.*442C>A (n.*442C>A) c.444C>A (p.Phe148Leu) n.930C>A c.447C>A (p.Phe149Leu) c.441C>A (p.Phe147Leu) c.393C>A (p.Phe131Leu) | |
| 7 | g.44150996A>C | CA367401962 | GCK | c.*441T>G (n.*441T>G) c.443T>G (p.Phe148Cys) n.929T>G c.446T>G (p.Phe149Cys) c.440T>G (p.Phe147Cys) c.392T>G (p.Phe131Cys) | |
| 7 | g.44150996A>G | CA367401964 | GCK | c.*441T>C (n.*441T>C) c.443T>C (p.Phe148Ser) n.929T>C c.446T>C (p.Phe149Ser) c.440T>C (p.Phe147Ser) c.392T>C (p.Phe131Ser) | ClinVar |
| 7 | g.44150996A>T | CA367401965 | GCK | c.*441T>A (n.*441T>A) c.443T>A (p.Phe148Tyr) n.929T>A c.446T>A (p.Phe149Tyr) c.440T>A (p.Phe147Tyr) c.392T>A (p.Phe131Tyr) | |
| 7 | g.44150997A= | CA1703636453 | GCK | c.*440T= (n.*440T=) c.442T= (p.Phe148=) n.928T= c.445T= (p.Phe149=) c.439T= (p.Phe147=) c.391T= (p.Phe131=) | |
| 7 | g.44150997A>C | CA367401969 | GCK | c.*440T>G (n.*440T>G) c.442T>G (p.Phe148Val) n.928T>G c.445T>G (p.Phe149Val) c.439T>G (p.Phe147Val) c.391T>G (p.Phe131Val) | |
| 7 | g.44150997A>G | CA367401968 | GCK | c.*440T>C (n.*440T>C) c.442T>C (p.Phe148Leu) n.928T>C c.445T>C (p.Phe149Leu) c.439T>C (p.Phe147Leu) c.391T>C (p.Phe131Leu) | gnomAD v4 |
| 7 | g.44150997A>T | CA367401967 | GCK | c.*440T>A (n.*440T>A) c.442T>A (p.Phe148Ile) n.928T>A c.445T>A (p.Phe149Ile) c.439T>A (p.Phe147Ile) c.391T>A (p.Phe131Ile) | ClinVar dbSNP |
| 7 | g.44150998G>A | CA454609795 | GCK | c.*439C>T (n.*439C>T) c.441C>T (p.Gly147=) n.927C>T c.444C>T (p.Gly148=) c.438C>T (p.Gly146=) c.390C>T (p.Gly130=) | |
| 7 | g.44150998G>C | CA454609797 | GCK | c.*439C>G (n.*439C>G) c.441C>G (p.Gly147=) n.927C>G c.444C>G (p.Gly148=) c.438C>G (p.Gly146=) c.390C>G (p.Gly130=) | |
| 7 | g.44150998G>T | CA454609798 | GCK | c.*439C>A (n.*439C>A) c.441C>A (p.Gly147=) n.927C>A c.444C>A (p.Gly148=) c.438C>A (p.Gly146=) c.390C>A (p.Gly130=) | gnomAD v4 |
| 7 | g.44150998_44150999delinsGC | CA1703636454 | GCK | c.*438_*439delinsGC (n.*438_*439delinsGC) c.440_441delinsGC (p.Gly147=) n.926_927delinsGC c.443_444delinsGC (p.Gly148=) c.437_438delinsGC (p.Gly146=) c.389_390delinsGC (p.Gly130=) | |
| 7 | g.44150999C>A | CA367401970 | GCK | c.*438G>T (n.*438G>T) c.440G>T (p.Gly147Val) n.926G>T c.443G>T (p.Gly148Val) c.437G>T (p.Gly146Val) c.389G>T (p.Gly130Val) | |
| 7 | g.44150999C= | CA1703636455 | GCK | c.*438G= (n.*438G=) c.440G= (p.Gly147=) n.926G= c.443G= (p.Gly148=) c.437G= (p.Gly146=) c.389G= (p.Gly130=) | |
| 7 | g.44150999C>G | CA367401971 | GCK | c.*438G>C (n.*438G>C) c.440G>C (p.Gly147Ala) n.926G>C c.443G>C (p.Gly148Ala) c.437G>C (p.Gly146Ala) c.389G>C (p.Gly130Ala) | |
| 7 | g.44150999C>T | CA213782 | GCK | c.*438G>A (n.*438G>A) c.440G>A (p.Gly147Asp) n.926G>A c.443G>A (p.Gly148Asp) c.437G>A (p.Gly146Asp) c.389G>A (p.Gly130Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151001del | CA658655970 | GCK | c.*438del (n.*438del) c.440del (p.Gly147AlafsTer8) n.926del c.443del (p.Gly148AlafsTer8) c.437del (p.Gly146AlafsTer8) c.389del (p.Gly130AlafsTer8) | ClinVar dbSNP |
| 7 | g.44151000C>A | CA367401973 | GCK | c.*437G>T (n.*437G>T) c.439G>T (p.Gly147Cys) n.925G>T c.442G>T (p.Gly148Cys) c.436G>T (p.Gly146Cys) c.388G>T (p.Gly130Cys) | COSMIC COSMIC COSMIC |
| 7 | g.44151000C>G | CA367401974 | GCK | c.*437G>C (n.*437G>C) c.439G>C (p.Gly147Arg) n.925G>C c.442G>C (p.Gly148Arg) c.436G>C (p.Gly146Arg) c.388G>C (p.Gly130Arg) | |
| 7 | g.44151000C>T | CA367401975 | GCK | c.*437G>A (n.*437G>A) c.439G>A (p.Gly147Ser) n.925G>A c.442G>A (p.Gly148Ser) c.436G>A (p.Gly146Ser) c.388G>A (p.Gly130Ser) | gnomAD v4 |
| 7 | g.44151001C>A | CA454609802 | GCK | c.*436G>T (n.*436G>T) c.438G>T (p.Leu146=) n.924G>T c.441G>T (p.Leu147=) c.435G>T (p.Leu145=) c.387G>T (p.Leu129=) | |
| 7 | g.44151001C= | CA1703636456 | GCK | c.*436G= (n.*436G=) c.438G= (p.Leu146=) n.924G= c.441G= (p.Leu147=) c.435G= (p.Leu145=) c.387G= (p.Leu129=) | |
| 7 | g.44151001C>G | CA454609803 | GCK | c.*436G>C (n.*436G>C) c.438G>C (p.Leu146=) n.924G>C c.441G>C (p.Leu147=) c.435G>C (p.Leu145=) c.387G>C (p.Leu129=) | |
| 7 | g.44151001C>T | CA454609804 | GCK | c.*436G>A (n.*436G>A) c.438G>A (p.Leu146=) n.924G>A c.441G>A (p.Leu147=) c.435G>A (p.Leu145=) c.387G>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44151002del | CA2695202962 | GCK | c.*435del (n.*435del) c.437del (p.Leu146ArgfsTer9) n.923del c.440del (p.Leu147ArgfsTer9) c.434del (p.Leu145ArgfsTer9) c.386del (p.Leu129ArgfsTer9) | |
| 7 | g.44151002A= | CA1703636457 | GCK | c.*435T= (n.*435T=) c.437T= (p.Leu146=) n.923T= c.440T= (p.Leu147=) c.434T= (p.Leu145=) c.386T= (p.Leu129=) | |
| 7 | g.44151002A>C | CA367401977 | GCK | c.*435T>G (n.*435T>G) c.437T>G (p.Leu146Arg) n.923T>G c.440T>G (p.Leu147Arg) c.434T>G (p.Leu145Arg) c.386T>G (p.Leu129Arg) | ClinVar |
| 7 | g.44151002A>G | CA367401978 | GCK | c.*435T>C (n.*435T>C) c.437T>C (p.Leu146Pro) n.923T>C c.440T>C (p.Leu147Pro) c.434T>C (p.Leu145Pro) c.386T>C (p.Leu129Pro) | ClinVar dbSNP |
| 7 | g.44151002A>T | CA367401980 | GCK | c.*435T>A (n.*435T>A) c.437T>A (p.Leu146Gln) n.923T>A c.440T>A (p.Leu147Gln) c.434T>A (p.Leu145Gln) c.386T>A (p.Leu129Gln) | |
| 7 | g.44151003G>A | CA454609808 | GCK | c.*434C>T (n.*434C>T) c.436C>T (p.Leu146=) n.922C>T c.439C>T (p.Leu147=) c.433C>T (p.Leu145=) c.385C>T (p.Leu129=) | gnomAD v4 |
| 7 | g.44151003G>C | CA367401981 | GCK | c.*434C>G (n.*434C>G) c.436C>G (p.Leu146Val) n.922C>G c.439C>G (p.Leu147Val) c.433C>G (p.Leu145Val) c.385C>G (p.Leu129Val) | |
| 7 | g.44151003G>T | CA367401982 | GCK | c.*434C>A (n.*434C>A) c.436C>A (p.Leu146Met) n.922C>A c.439C>A (p.Leu147Met) c.433C>A (p.Leu145Met) c.385C>A (p.Leu129Met) | COSMIC COSMIC COSMIC |
| 7 | g.44151005_44151006dup | CA16618469 | GCK | c.*433_*434dup (n.*433_*434dup) c.435_436dup (p.Leu146ProfsTer10) n.921_922dup c.438_439dup (p.Leu147ProfsTer10) c.432_433dup (p.Leu145ProfsTer10) c.384_385dup (p.Leu129ProfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151004G>A | CA4239633 | GCK | c.*433C>T (n.*433C>T) c.435C>T (p.Pro145=) n.921C>T c.438C>T (p.Pro146=) c.432C>T (p.Pro144=) c.384C>T (p.Pro128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151004G>C | CA4239632 | GCK | c.*433C>G (n.*433C>G) c.435C>G (p.Pro145=) n.921C>G c.438C>G (p.Pro146=) c.432C>G (p.Pro144=) c.384C>G (p.Pro128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151004G= | CA1703636458 | GCK | c.*433C= (n.*433C=) c.435C= (p.Pro145=) n.921C= c.438C= (p.Pro146=) c.432C= (p.Pro144=) c.384C= (p.Pro128=) | |
| 7 | g.44151004G>T | CA454609811 | GCK | c.*433C>A (n.*433C>A) c.435C>A (p.Pro145=) n.921C>A c.438C>A (p.Pro146=) c.432C>A (p.Pro144=) c.384C>A (p.Pro128=) | |
| 7 | g.44151005G>A | CA367401987 | GCK | c.*432C>T (n.*432C>T) c.434C>T (p.Pro145Leu) n.920C>T c.437C>T (p.Pro146Leu) c.431C>T (p.Pro144Leu) c.383C>T (p.Pro128Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151005G>C | CA367401988 | GCK | c.*432C>G (n.*432C>G) c.434C>G (p.Pro145Arg) n.920C>G c.437C>G (p.Pro146Arg) c.431C>G (p.Pro144Arg) c.383C>G (p.Pro128Arg) | |
| 7 | g.44151005G= | CA1703636459 | GCK | c.*432C= (n.*432C=) c.434C= (p.Pro145=) n.920C= c.437C= (p.Pro146=) c.431C= (p.Pro144=) c.383C= (p.Pro128=) | |
| 7 | g.44151005G>T | CA367401986 | GCK | c.*432C>A (n.*432C>A) c.434C>A (p.Pro145His) n.920C>A c.437C>A (p.Pro146His) c.431C>A (p.Pro144His) c.383C>A (p.Pro128His) | |
| 7 | g.44151006G>A | CA4239634 | GCK | c.*431C>T (n.*431C>T) c.433C>T (p.Pro145Ser) n.919C>T c.436C>T (p.Pro146Ser) c.430C>T (p.Pro144Ser) c.382C>T (p.Pro128Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151006G>C | CA367401990 | GCK | c.*431C>G (n.*431C>G) c.433C>G (p.Pro145Ala) n.919C>G c.436C>G (p.Pro146Ala) c.430C>G (p.Pro144Ala) c.382C>G (p.Pro128Ala) | |
| 7 | g.44151006G= | CA1703636460 | GCK | c.*431C= (n.*431C=) c.433C= (p.Pro145=) n.919C= c.436C= (p.Pro146=) c.430C= (p.Pro144=) c.382C= (p.Pro128=) | |
| 7 | g.44151006G>T | CA367401992 | GCK | c.*431C>A (n.*431C>A) c.433C>A (p.Pro145Thr) n.919C>A c.436C>A (p.Pro146Thr) c.430C>A (p.Pro144Thr) c.382C>A (p.Pro128Thr) | |
| 7 | g.44151007C>A | CA454609812 | GCK | c.*430G>T (n.*430G>T) c.432G>T (p.Leu144=) n.918G>T c.435G>T (p.Leu145=) c.429G>T (p.Leu143=) c.381G>T (p.Leu127=) | ClinVar dbSNP |
| 7 | g.44151007C= | CA1703636462 | GCK | c.*430G= (n.*430G=) c.432G= (p.Leu144=) n.918G= c.435G= (p.Leu145=) c.429G= (p.Leu143=) c.381G= (p.Leu127=) | |
| 7 | g.44151007C>G | CA454609814 | GCK | c.*430G>C (n.*430G>C) c.432G>C (p.Leu144=) n.918G>C c.435G>C (p.Leu145=) c.429G>C (p.Leu143=) c.381G>C (p.Leu127=) | |
| 7 | g.44151007C>T | CA454609815 | GCK | c.*430G>A (n.*430G>A) c.432G>A (p.Leu144=) n.918G>A c.435G>A (p.Leu145=) c.429G>A (p.Leu143=) c.381G>A (p.Leu127=) | |
| 7 | g.44151007_44151008delinsAG | CA2695202965 | GCK | c.*429_*430delinsCT (n.*429_*430delinsCT) c.431_432delinsCT (p.Leu144Pro) n.917_918delinsCT c.434_435delinsCT (p.Leu145Pro) c.428_429delinsCT (p.Leu143Pro) c.380_381delinsCT (p.Leu127Pro) | ClinVar |
| 7 | g.44151007_44151008delinsCA | CA1703636461 | GCK | c.*429_*430delinsTG (n.*429_*430delinsTG) c.431_432delinsTG (p.Leu144=) n.917_918delinsTG c.434_435delinsTG (p.Leu145=) c.428_429delinsTG (p.Leu143=) c.380_381delinsTG (p.Leu127=) | |
| 7 | g.44151008del | CA16618470 | GCK | c.*429del (n.*429del) c.431del (p.Leu144ArgfsTer11) n.917del c.434del (p.Leu145ArgfsTer11) c.428del (p.Leu143ArgfsTer11) c.380del (p.Leu127ArgfsTer11) | ClinVar dbSNP |
| 7 | g.44151008A= | CA1703636463 | GCK | c.*429T= (n.*429T=) c.431T= (p.Leu144=) n.917T= c.434T= (p.Leu145=) c.428T= (p.Leu143=) c.380T= (p.Leu127=) | |
| 7 | g.44151008A>C | CA367401993 | GCK | c.*429T>G (n.*429T>G) c.431T>G (p.Leu144Arg) n.917T>G c.434T>G (p.Leu145Arg) c.428T>G (p.Leu143Arg) c.380T>G (p.Leu127Arg) | |
| 7 | g.44151008A>G | CA367401995 | GCK | c.*429T>C (n.*429T>C) c.431T>C (p.Leu144Pro) n.917T>C c.434T>C (p.Leu145Pro) c.428T>C (p.Leu143Pro) c.380T>C (p.Leu127Pro) | ClinVar dbSNP |
| 7 | g.44151008A>T | CA367401997 | GCK | c.*429T>A (n.*429T>A) c.431T>A (p.Leu144Gln) n.917T>A c.434T>A (p.Leu145Gln) c.428T>A (p.Leu143Gln) c.380T>A (p.Leu127Gln) | |
| 7 | g.44151009G>A | CA454609819 | GCK | c.*428C>T (n.*428C>T) c.430C>T (p.Leu144=) n.916C>T c.433C>T (p.Leu145=) c.427C>T (p.Leu143=) c.379C>T (p.Leu127=) | COSMIC COSMIC COSMIC |
| 7 | g.44151009G>C | CA367401998 | GCK | c.*428C>G (n.*428C>G) c.430C>G (p.Leu144Val) n.916C>G c.433C>G (p.Leu145Val) c.427C>G (p.Leu143Val) c.379C>G (p.Leu127Val) | ClinVar |
| 7 | g.44151009G>T | CA367402000 | GCK | c.*428C>A (n.*428C>A) c.430C>A (p.Leu144Met) n.916C>A c.433C>A (p.Leu145Met) c.427C>A (p.Leu143Met) c.379C>A (p.Leu127Met) | |
| 7 | g.44151010C>A | CA367402001 | GCK | c.*427G>T (n.*427G>T) c.429G>T (p.Lys143Asn) n.915G>T c.432G>T (p.Lys144Asn) c.426G>T (p.Lys142Asn) c.378G>T (p.Lys126Asn) | gnomAD v4 |
| 7 | g.44151010C= | CA1703636464 | GCK | c.*427G= (n.*427G=) c.429G= (p.Lys143=) n.915G= c.432G= (p.Lys144=) c.426G= (p.Lys142=) c.378G= (p.Lys126=) | |
| 7 | g.44151010C>G | CA367402002 | GCK | c.*427G>C (n.*427G>C) c.429G>C (p.Lys143Asn) n.915G>C c.432G>C (p.Lys144Asn) c.426G>C (p.Lys142Asn) c.378G>C (p.Lys126Asn) | |
| 7 | g.44151010C>T | CA454609820 | GCK | c.*427G>A (n.*427G>A) c.429G>A (p.Lys143=) n.915G>A c.432G>A (p.Lys144=) c.426G>A (p.Lys142=) c.378G>A (p.Lys126=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151013_44151015del | CA2695202966 | GCK | c.*425_*427del (n.*425_*427del) c.427_429del (p.Lys143del) n.913_915del c.430_432del (p.Lys144del) c.424_426del (p.Lys142del) c.376_378del (p.Lys126del) | |
| 7 | g.44151011T>A | CA367402004 | GCK | c.*426A>T (n.*426A>T) c.428A>T (p.Lys143Met) n.914A>T c.431A>T (p.Lys144Met) c.425A>T (p.Lys142Met) c.377A>T (p.Lys126Met) | |
| 7 | g.44151011T>C | CA367402006 | GCK | c.*426A>G (n.*426A>G) c.428A>G (p.Lys143Arg) n.914A>G c.431A>G (p.Lys144Arg) c.425A>G (p.Lys142Arg) c.377A>G (p.Lys126Arg) | |
| 7 | g.44151011T>G | CA367402007 | GCK | c.*426A>C (n.*426A>C) c.428A>C (p.Lys143Thr) n.914A>C c.431A>C (p.Lys144Thr) c.425A>C (p.Lys142Thr) c.377A>C (p.Lys126Thr) | |
| 7 | g.44151011_44151012delinsAG | CA658655971 | GCK | c.*425_*426delinsCT (n.*425_*426delinsCT) c.427_428delinsCT (p.Lys143Leu) n.913_914delinsCT c.430_431delinsCT (p.Lys144Leu) c.424_425delinsCT (p.Lys142Leu) c.376_377delinsCT (p.Lys126Leu) | ClinVar dbSNP |
| 7 | g.44151011_44151012delinsTT | CA1703636465 | GCK | c.*425_*426delinsAA (n.*425_*426delinsAA) c.427_428delinsAA (p.Lys143=) n.913_914delinsAA c.430_431delinsAA (p.Lys144=) c.424_425delinsAA (p.Lys142=) c.376_377delinsAA (p.Lys126=) | |
| 7 | g.44151012T>A | CA367402011 | GCK | c.*425A>T (n.*425A>T) c.427A>T (p.Lys143Ter) n.913A>T c.430A>T (p.Lys144Ter) c.424A>T (p.Lys142Ter) c.376A>T (p.Lys126Ter) | |
| 7 | g.44151012T>C | CA367402010 | GCK | c.*425A>G (n.*425A>G) c.427A>G (p.Lys143Glu) n.913A>G c.430A>G (p.Lys144Glu) c.424A>G (p.Lys142Glu) c.376A>G (p.Lys126Glu) | |
| 7 | g.44151012T>G | CA367402009 | GCK | c.*425A>C (n.*425A>C) c.427A>C (p.Lys143Gln) n.913A>C c.430A>C (p.Lys144Gln) c.424A>C (p.Lys142Gln) c.376A>C (p.Lys126Gln) | |
| 7 | g.44151013C>A | CA367402013 | GCK | c.*424G>T (n.*424G>T) c.426G>T (p.Lys142Asn) n.912G>T c.429G>T (p.Lys143Asn) c.423G>T (p.Lys141Asn) c.375G>T (p.Lys125Asn) | |
| 7 | g.44151013C>G | CA367402015 | GCK | c.*424G>C (n.*424G>C) c.426G>C (p.Lys142Asn) n.912G>C c.429G>C (p.Lys143Asn) c.423G>C (p.Lys141Asn) c.375G>C (p.Lys125Asn) | |
| 7 | g.44151013C>T | CA454609822 | GCK | c.*424G>A (n.*424G>A) c.426G>A (p.Lys142=) n.912G>A c.429G>A (p.Lys143=) c.423G>A (p.Lys141=) c.375G>A (p.Lys125=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151014T>A | CA367402016 | GCK | c.*423A>T (n.*423A>T) c.425A>T (p.Lys142Met) n.911A>T c.428A>T (p.Lys143Met) c.422A>T (p.Lys141Met) c.374A>T (p.Lys125Met) | |
| 7 | g.44151014T>C | CA367402018 | GCK | c.*423A>G (n.*423A>G) c.425A>G (p.Lys142Arg) n.911A>G c.428A>G (p.Lys143Arg) c.422A>G (p.Lys141Arg) c.374A>G (p.Lys125Arg) | |
| 7 | g.44151014T>G | CA367402019 | GCK | c.*423A>C (n.*423A>C) c.425A>C (p.Lys142Thr) n.911A>C c.428A>C (p.Lys143Thr) c.422A>C (p.Lys141Thr) c.374A>C (p.Lys125Thr) | |
| 7 | g.44151015T>A | CA367402020 | GCK | c.*422A>T (n.*422A>T) c.424A>T (p.Lys142Ter) n.910A>T c.427A>T (p.Lys143Ter) c.421A>T (p.Lys141Ter) c.373A>T (p.Lys125Ter) | |
| 7 | g.44151015T>C | CA367402021 | GCK | c.*422A>G (n.*422A>G) c.424A>G (p.Lys142Glu) n.910A>G c.427A>G (p.Lys143Glu) c.421A>G (p.Lys141Glu) c.373A>G (p.Lys125Glu) | |
| 7 | g.44151015T>G | CA367402022 | GCK | c.*422A>C (n.*422A>C) c.424A>C (p.Lys142Gln) n.910A>C c.427A>C (p.Lys143Gln) c.421A>C (p.Lys141Gln) c.373A>C (p.Lys125Gln) | |
| 7 | g.44151018_44151019del | CA2695202967 | GCK | c.*421_*422del (n.*421_*422del) c.423_424del (p.His141GlnfsTer20) n.909_910del c.426_427del (p.His142GlnfsTer20) c.420_421del (p.His140GlnfsTer20) c.372_373del (p.His124GlnfsTer20) | |
| 7 | g.44151016del | CA2695202968 | GCK | c.*421del (n.*421del) c.423del (p.His141GlnfsTer14) n.909del c.426del (p.His142GlnfsTer14) c.420del (p.His140GlnfsTer14) c.372del (p.His124GlnfsTer14) | |
| 7 | g.44151016G>A | CA454609827 | GCK | c.*421C>T (n.*421C>T) c.423C>T (p.His141=) n.909C>T c.426C>T (p.His142=) c.420C>T (p.His140=) c.372C>T (p.His124=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151016G>C | CA367402023 | GCK | c.*421C>G (n.*421C>G) c.423C>G (p.His141Gln) n.909C>G c.426C>G (p.His142Gln) c.420C>G (p.His140Gln) c.372C>G (p.His124Gln) | |
| 7 | g.44151016G= | CA1703636466 | GCK | c.*421C= (n.*421C=) c.423C= (p.His141=) n.909C= c.426C= (p.His142=) c.420C= (p.His140=) c.372C= (p.His124=) | |
| 7 | g.44151016G>T | CA367402025 | GCK | c.*421C>A (n.*421C>A) c.423C>A (p.His141Gln) n.909C>A c.426C>A (p.His142Gln) c.420C>A (p.His140Gln) c.372C>A (p.His124Gln) | ClinVar dbSNP |
| 7 | g.44151017T>A | CA367402027 | GCK | c.*420A>T (n.*420A>T) c.422A>T (p.His141Leu) n.908A>T c.425A>T (p.His142Leu) c.419A>T (p.His140Leu) c.371A>T (p.His124Leu) | |
| 7 | g.44151017T>C | CA367402028 | GCK | c.*420A>G (n.*420A>G) c.422A>G (p.His141Arg) n.908A>G c.425A>G (p.His142Arg) c.419A>G (p.His140Arg) c.371A>G (p.His124Arg) | gnomAD v4 COSMIC COSMIC |
| 7 | g.44151017T>G | CA367402030 | GCK | c.*420A>C (n.*420A>C) c.422A>C (p.His141Pro) n.908A>C c.425A>C (p.His142Pro) c.419A>C (p.His140Pro) c.371A>C (p.His124Pro) | ClinVar dbSNP |
| 7 | g.44151018G>A | CA367402032 | GCK | c.*419C>T (n.*419C>T) c.421C>T (p.His141Tyr) n.907C>T c.424C>T (p.His142Tyr) c.418C>T (p.His140Tyr) c.370C>T (p.His124Tyr) | |
| 7 | g.44151018G>C | CA367402034 | GCK | c.*419C>G (n.*419C>G) c.421C>G (p.His141Asp) n.907C>G c.424C>G (p.His142Asp) c.418C>G (p.His140Asp) c.370C>G (p.His124Asp) | |
| 7 | g.44151018G>T | CA367402031 | GCK | c.*419C>A (n.*419C>A) c.421C>A (p.His141Asn) n.907C>A c.424C>A (p.His142Asn) c.418C>A (p.His140Asn) c.370C>A (p.His124Asn) | |
| 7 | g.44151019T>A | CA367402035 | GCK | c.*418A>T (n.*418A>T) c.420A>T (p.Lys140Asn) n.906A>T c.423A>T (p.Lys141Asn) c.417A>T (p.Lys139Asn) c.369A>T (p.Lys123Asn) | |
| 7 | g.44151019T>C | CA454609830 | GCK | c.*418A>G (n.*418A>G) c.420A>G (p.Lys140=) n.906A>G c.423A>G (p.Lys141=) c.417A>G (p.Lys139=) c.369A>G (p.Lys123=) | dbSNP |
| 7 | g.44151019T>G | CA367402037 | GCK | c.*418A>C (n.*418A>C) c.420A>C (p.Lys140Asn) n.906A>C c.423A>C (p.Lys141Asn) c.417A>C (p.Lys139Asn) c.369A>C (p.Lys123Asn) | |
| 7 | g.44151020T>A | CA367402038 | GCK | c.*417A>T (n.*417A>T) c.419A>T (p.Lys140Ile) n.905A>T c.422A>T (p.Lys141Ile) c.416A>T (p.Lys139Ile) c.368A>T (p.Lys123Ile) | |
| 7 | g.44151020T>C | CA367402040 | GCK | c.*417A>G (n.*417A>G) c.419A>G (p.Lys140Arg) n.905A>G c.422A>G (p.Lys141Arg) c.416A>G (p.Lys139Arg) c.368A>G (p.Lys123Arg) | |
| 7 | g.44151020T>G | CA367402041 | GCK | c.*417A>C (n.*417A>C) c.419A>C (p.Lys140Thr) n.905A>C c.422A>C (p.Lys141Thr) c.416A>C (p.Lys139Thr) c.368A>C (p.Lys123Thr) | |
| 7 | g.44151021T>A | CA367402042 | GCK | c.*416A>T (n.*416A>T) c.418A>T (p.Lys140Ter) n.904A>T c.421A>T (p.Lys141Ter) c.415A>T (p.Lys139Ter) c.367A>T (p.Lys123Ter) | |
| 7 | g.44151021T>C | CA367402044 | GCK | c.*416A>G (n.*416A>G) c.418A>G (p.Lys140Glu) n.904A>G c.421A>G (p.Lys141Glu) c.415A>G (p.Lys139Glu) c.367A>G (p.Lys123Glu) | |
| 7 | g.44151021T>G | CA367402046 | GCK | c.*416A>C (n.*416A>C) c.418A>C (p.Lys140Gln) n.904A>C c.421A>C (p.Lys141Gln) c.415A>C (p.Lys139Gln) c.367A>C (p.Lys123Gln) | |
| 7 | g.44151022C>A | CA367402047 | GCK | c.*415G>T (n.*415G>T) c.417G>T (p.Met139Ile) n.903G>T c.420G>T (p.Met140Ile) c.414G>T (p.Met138Ile) c.366G>T (p.Met122Ile) | |
| 7 | g.44151022C>G | CA367402048 | GCK | c.*415G>C (n.*415G>C) c.417G>C (p.Met139Ile) n.903G>C c.420G>C (p.Met140Ile) c.414G>C (p.Met138Ile) c.366G>C (p.Met122Ile) | |
| 7 | g.44151022C>T | CA367402050 | GCK | c.*415G>A (n.*415G>A) c.417G>A (p.Met139Ile) n.903G>A c.420G>A (p.Met140Ile) c.414G>A (p.Met138Ile) c.366G>A (p.Met122Ile) | |
| 7 | g.44151023A>C | CA367402054 | GCK | c.*414T>G (n.*414T>G) c.416T>G (p.Met139Arg) n.902T>G c.419T>G (p.Met140Arg) c.413T>G (p.Met138Arg) c.365T>G (p.Met122Arg) | |
| 7 | g.44151023A>G | CA367402053 | GCK | c.*414T>C (n.*414T>C) c.416T>C (p.Met139Thr) n.902T>C c.419T>C (p.Met140Thr) c.413T>C (p.Met138Thr) c.365T>C (p.Met122Thr) | |
| 7 | g.44151023A>T | CA367402051 | GCK | c.*414T>A (n.*414T>A) c.416T>A (p.Met139Lys) n.902T>A c.419T>A (p.Met140Lys) c.413T>A (p.Met138Lys) c.365T>A (p.Met122Lys) | |
| 7 | g.44151024T>A | CA4239635 | GCK | c.*413A>T (n.*413A>T) c.415A>T (p.Met139Leu) n.901A>T c.418A>T (p.Met140Leu) c.412A>T (p.Met138Leu) c.364A>T (p.Met122Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151024T>C | CA367402056 | GCK | c.*413A>G (n.*413A>G) c.415A>G (p.Met139Val) n.901A>G c.418A>G (p.Met140Val) c.412A>G (p.Met138Val) c.364A>G (p.Met122Val) | |
| 7 | g.44151024T>G | CA367402058 | GCK | c.*413A>C (n.*413A>C) c.415A>C (p.Met139Leu) n.901A>C c.418A>C (p.Met140Leu) c.412A>C (p.Met138Leu) c.364A>C (p.Met122Leu) | |
| 7 | g.44151024T= | CA1703636467 | GCK | c.*413A= (n.*413A=) c.415A= (p.Met139=) n.901A= c.418A= (p.Met140=) c.412A= (p.Met138=) c.364A= (p.Met122=) | |
| 7 | g.44151025C>A | CA367402060 | GCK | c.*412G>T (n.*412G>T) c.414G>T (p.Gln138His) n.900G>T c.417G>T (p.Gln139His) c.411G>T (p.Gln137His) c.364-1G>T (n.364-1G>T) | COSMIC COSMIC COSMIC |
| 7 | g.44151025C= | CA1703636468 | GCK | c.*412G= (n.*412G=) c.414G= (p.Gln138=) n.900G= c.417G= (p.Gln139=) c.411G= (p.Gln137=) c.364-1G= (n.364-1G=) | |
| 7 | g.44151025C>G | CA367402061 | GCK | c.*412G>C (n.*412G>C) c.414G>C (p.Gln138His) n.900G>C c.417G>C (p.Gln139His) c.411G>C (p.Gln137His) c.364-1G>C (n.364-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151025C>T | CA367402062 | GCK | c.*412G>A (n.*412G>A) c.414G>A (p.Gln138=) n.900G>A c.417G>A (p.Gln139=) c.411G>A (p.Gln137=) c.364-1G>A (n.364-1G>A) | |
| 7 | g.44151026T>A | CA367402064 | GCK | c.*411A>T (n.*411A>T) c.413A>T (p.Gln138Leu) n.899A>T c.416A>T (p.Gln139Leu) c.410A>T (p.Gln137Leu) c.364-2A>T (n.364-2A>T) | |
| 7 | g.44151026T>C | CA367402065 | GCK | c.*411A>G (n.*411A>G) c.413A>G (p.Gln138Arg) n.899A>G c.416A>G (p.Gln139Arg) c.410A>G (p.Gln137Arg) c.364-2A>G (n.364-2A>G) | |
| 7 | g.44151026T>G | CA367402066 | GCK | c.*411A>C (n.*411A>C) c.413A>C (p.Gln138Pro) n.899A>C c.416A>C (p.Gln139Pro) c.410A>C (p.Gln137Pro) c.364-2A>C (n.364-2A>C) | |
| 7 | g.44151027G>A | CA367402067 | GCK | c.*410C>T (n.*410C>T) c.412C>T (p.Gln138Ter) n.898C>T c.415C>T (p.Gln139Ter) c.409C>T (p.Gln137Ter) c.364-3C>T (n.364-3C>T) | |
| 7 | g.44151027G>C | CA367402068 | GCK | c.*410C>G (n.*410C>G) c.412C>G (p.Gln138Glu) n.898C>G c.415C>G (p.Gln139Glu) c.409C>G (p.Gln137Glu) c.364-3C>G (n.364-3C>G) | |
| 7 | g.44151027G>T | CA367402070 | GCK | c.*410C>A (n.*410C>A) c.412C>A (p.Gln138Lys) n.898C>A c.415C>A (p.Gln139Lys) c.409C>A (p.Gln137Lys) c.364-3C>A (n.364-3C>A) | |
| 7 | g.44151028A>C | CA367402072 | GCK | c.*409T>G (n.*409T>G) c.411T>G (p.His137Gln) n.897T>G c.414T>G (p.His138Gln) c.408T>G (p.His136Gln) c.364-4T>G (n.364-4T>G) | gnomAD v4 |
| 7 | g.44151028A>G | CA454609835 | GCK | c.*409T>C (n.*409T>C) c.411T>C (p.His137=) n.897T>C c.414T>C (p.His138=) c.408T>C (p.His136=) c.364-4T>C (n.364-4T>C) | |
| 7 | g.44151028A>T | CA367402073 | GCK | c.*409T>A (n.*409T>A) c.411T>A (p.His137Gln) n.897T>A c.414T>A (p.His138Gln) c.408T>A (p.His136Gln) c.364-4T>A (n.364-4T>A) | gnomAD v4 |
| 7 | g.44151029T>A | CA367402075 | GCK | c.*408A>T (n.*408A>T) c.410A>T (p.His137Leu) n.896A>T c.413A>T (p.His138Leu) c.407A>T (p.His136Leu) c.364-5A>T (n.364-5A>T) | |
| 7 | g.44151029T>C | CA367402077 | GCK | c.*408A>G (n.*408A>G) c.410A>G (p.His137Arg) n.896A>G c.413A>G (p.His138Arg) c.407A>G (p.His136Arg) c.364-5A>G (n.364-5A>G) | ClinVar |
| 7 | g.44151029T>G | CA367402076 | GCK | c.*408A>C (n.*408A>C) c.410A>C (p.His137Pro) n.896A>C c.413A>C (p.His138Pro) c.407A>C (p.His136Pro) c.364-5A>C (n.364-5A>C) | |
| 7 | g.44151030G>A | CA367402078 | GCK | c.*407C>T (n.*407C>T) c.409C>T (p.His137Tyr) n.895C>T c.412C>T (p.His138Tyr) c.406C>T (p.His136Tyr) c.364-6C>T (n.364-6C>T) | |
| 7 | g.44151030G>C | CA367402081 | GCK | c.*407C>G (n.*407C>G) c.409C>G (p.His137Asp) n.895C>G c.412C>G (p.His138Asp) c.406C>G (p.His136Asp) c.364-6C>G (n.364-6C>G) | |
| 7 | g.44151030G>T | CA367402079 | GCK | c.*407C>A (n.*407C>A) c.409C>A (p.His137Asn) n.895C>A c.412C>A (p.His138Asn) c.406C>A (p.His136Asn) c.364-6C>A (n.364-6C>A) | |
| 7 | g.44151031C>A | CA367402082 | GCK | c.*406G>T (n.*406G>T) c.408G>T (p.Lys136Asn) n.894G>T c.411G>T (p.Lys137Asn) c.405G>T (p.Lys135Asn) c.364-7G>T (n.364-7G>T) | |
| 7 | g.44151031C>G | CA367402084 | GCK | c.*406G>C (n.*406G>C) c.408G>C (p.Lys136Asn) n.894G>C c.411G>C (p.Lys137Asn) c.405G>C (p.Lys135Asn) c.364-7G>C (n.364-7G>C) | |
| 7 | g.44151031C>T | CA454609837 | GCK | c.*406G>A (n.*406G>A) c.408G>A (p.Lys136=) n.894G>A c.411G>A (p.Lys137=) c.405G>A (p.Lys135=) c.364-7G>A (n.364-7G>A) | |
| 7 | g.44151032T>A | CA367402086 | GCK | c.*405A>T (n.*405A>T) c.407A>T (p.Lys136Met) n.893A>T c.410A>T (p.Lys137Met) c.404A>T (p.Lys135Met) c.364-8A>T (n.364-8A>T) | |
| 7 | g.44151032T>C | CA367402087 | GCK | c.*405A>G (n.*405A>G) c.407A>G (p.Lys136Arg) n.893A>G c.410A>G (p.Lys137Arg) c.404A>G (p.Lys135Arg) c.364-8A>G (n.364-8A>G) | dbSNP |
| 7 | g.44151032T>G | CA367402089 | GCK | c.*405A>C (n.*405A>C) c.407A>C (p.Lys136Thr) n.893A>C c.410A>C (p.Lys137Thr) c.404A>C (p.Lys135Thr) c.364-8A>C (n.364-8A>C) | gnomAD v4 |
| 7 | g.44151032T= | CA1703636469 | GCK | c.*405A= (n.*405A=) c.407A= (p.Lys136=) n.893A= c.410A= (p.Lys137=) c.404A= (p.Lys135=) c.364-8A= (n.364-8A=) | |
| 7 | g.44151033T>A | CA367402090 | GCK | c.*404A>T (n.*404A>T) c.406A>T (p.Lys136Ter) n.892A>T c.409A>T (p.Lys137Ter) c.403A>T (p.Lys135Ter) c.364-9A>T (n.364-9A>T) | |
| 7 | g.44151033T>C | CA367402091 | GCK | c.*404A>G (n.*404A>G) c.406A>G (p.Lys136Glu) n.892A>G c.409A>G (p.Lys137Glu) c.403A>G (p.Lys135Glu) c.364-9A>G (n.364-9A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151033T>G | CA367402092 | GCK | c.*404A>C (n.*404A>C) c.406A>C (p.Lys136Gln) n.892A>C c.409A>C (p.Lys137Gln) c.403A>C (p.Lys135Gln) c.364-9A>C (n.364-9A>C) | |
| 7 | g.44151033T= | CA1703636470 | GCK | c.*404A= (n.*404A=) c.406A= (p.Lys136=) n.892A= c.409A= (p.Lys137=) c.403A= (p.Lys135=) c.364-9A= (n.364-9A=) | |
| 7 | g.44151034G>A | CA454609841 | GCK | c.*403C>T (n.*403C>T) c.405C>T (p.Asp135=) n.891C>T c.408C>T (p.Asp136=) c.402C>T (p.Asp134=) c.364-10C>T (n.364-10C>T) | |
| 7 | g.44151034G>C | CA367402093 | GCK | c.*403C>G (n.*403C>G) c.405C>G (p.Asp135Glu) n.891C>G c.408C>G (p.Asp136Glu) c.402C>G (p.Asp134Glu) c.364-10C>G (n.364-10C>G) | |
| 7 | g.44151034G>T | CA367402095 | GCK | c.*403C>A (n.*403C>A) c.405C>A (p.Asp135Glu) n.891C>A c.408C>A (p.Asp136Glu) c.402C>A (p.Asp134Glu) c.364-10C>A (n.364-10C>A) | |
| 7 | g.44151035T>A | CA367402100 | GCK | c.*402A>T (n.*402A>T) c.404A>T (p.Asp135Val) n.890A>T c.407A>T (p.Asp136Val) c.401A>T (p.Asp134Val) c.364-11A>T (n.364-11A>T) | |
| 7 | g.44151035T>C | CA367402098 | GCK | c.*402A>G (n.*402A>G) c.404A>G (p.Asp135Gly) n.890A>G c.407A>G (p.Asp136Gly) c.401A>G (p.Asp134Gly) c.364-11A>G (n.364-11A>G) | |
| 7 | g.44151035T>G | CA367402096 | GCK | c.*402A>C (n.*402A>C) c.404A>C (p.Asp135Ala) n.890A>C c.407A>C (p.Asp136Ala) c.401A>C (p.Asp134Ala) c.364-11A>C (n.364-11A>C) | |
| 7 | g.44151036C>A | CA367402101 | GCK | c.*401G>T (n.*401G>T) c.403G>T (p.Asp135Tyr) n.889G>T c.406G>T (p.Asp136Tyr) c.400G>T (p.Asp134Tyr) c.364-12G>T (n.364-12G>T) | |
| 7 | g.44151036C>G | CA367402102 | GCK | c.*401G>C (n.*401G>C) c.403G>C (p.Asp135His) n.889G>C c.406G>C (p.Asp136His) c.400G>C (p.Asp134His) c.364-12G>C (n.364-12G>C) | |
| 7 | g.44151036C>T | CA367402103 | GCK | c.*401G>A (n.*401G>A) c.403G>A (p.Asp135Asn) n.889G>A c.406G>A (p.Asp136Asn) c.400G>A (p.Asp134Asn) c.364-12G>A (n.364-12G>A) | |
| 7 | g.44151037C>A | CA454609846 | GCK | c.*400G>T (n.*400G>T) c.402G>T (p.Leu134=) n.888G>T c.405G>T (p.Leu135=) c.399G>T (p.Leu133=) c.364-13G>T (n.364-13G>T) | |
| 7 | g.44151037C>G | CA454609847 | GCK | c.*400G>C (n.*400G>C) c.402G>C (p.Leu134=) n.888G>C c.405G>C (p.Leu135=) c.399G>C (p.Leu133=) c.364-13G>C (n.364-13G>C) | |
| 7 | g.44151037C>T | CA454609849 | GCK | c.*400G>A (n.*400G>A) c.402G>A (p.Leu134=) n.888G>A c.405G>A (p.Leu135=) c.399G>A (p.Leu133=) c.364-13G>A (n.364-13G>A) | |
| 7 | g.44151038A>C | CA367402106 | GCK | c.*399T>G (n.*399T>G) c.401T>G (p.Leu134Arg) n.887T>G c.404T>G (p.Leu135Arg) c.398T>G (p.Leu133Arg) c.364-14T>G (n.364-14T>G) | |
| 7 | g.44151038A>G | CA367402107 | GCK | c.*399T>C (n.*399T>C) c.401T>C (p.Leu134Pro) n.887T>C c.404T>C (p.Leu135Pro) c.398T>C (p.Leu133Pro) c.364-14T>C (n.364-14T>C) | |
| 7 | g.44151038A>T | CA367402109 | GCK | c.*399T>A (n.*399T>A) c.401T>A (p.Leu134Gln) n.887T>A c.404T>A (p.Leu135Gln) c.398T>A (p.Leu133Gln) c.364-14T>A (n.364-14T>A) | |
| 7 | g.44151039G>A | CA454609850 | GCK | c.*398C>T (n.*398C>T) c.400C>T (p.Leu134=) n.886C>T c.403C>T (p.Leu135=) c.397C>T (p.Leu133=) c.364-15C>T (n.364-15C>T) | dbSNP |
| 7 | g.44151039G>C | CA367402110 | GCK | c.*398C>G (n.*398C>G) c.400C>G (p.Leu134Val) n.886C>G c.403C>G (p.Leu135Val) c.397C>G (p.Leu133Val) c.364-15C>G (n.364-15C>G) | |
| 7 | g.44151039G= | CA1703636471 | GCK | c.*398C= (n.*398C=) c.400C= (p.Leu134=) n.886C= c.403C= (p.Leu135=) c.397C= (p.Leu133=) c.364-15C= (n.364-15C=) | |
| 7 | g.44151039G>T | CA367402111 | GCK | c.*398C>A (n.*398C>A) c.400C>A (p.Leu134Met) n.886C>A c.403C>A (p.Leu135Met) c.397C>A (p.Leu133Met) c.364-15C>A (n.364-15C>A) | |
| 7 | g.44151040G>A | CA157918180 | GCK | c.*397C>T (n.*397C>T) c.399C>T (p.Phe133=) n.885C>T c.402C>T (p.Phe134=) c.396C>T (p.Phe132=) c.364-16C>T (n.364-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151040G>C | CA367402113 | GCK | c.*397C>G (n.*397C>G) c.399C>G (p.Phe133Leu) n.885C>G c.402C>G (p.Phe134Leu) c.396C>G (p.Phe132Leu) c.364-16C>G (n.364-16C>G) | |
| 7 | g.44151040G= | CA1703636472 | GCK | c.*397C= (n.*397C=) c.399C= (p.Phe133=) n.885C= c.402C= (p.Phe134=) c.396C= (p.Phe132=) c.364-16C= (n.364-16C=) | |
| 7 | g.44151040G>T | CA367402115 | GCK | c.*397C>A (n.*397C>A) c.399C>A (p.Phe133Leu) n.885C>A c.402C>A (p.Phe134Leu) c.396C>A (p.Phe132Leu) c.364-16C>A (n.364-16C>A) | |
| 7 | g.44151041A>C | CA367402118 | GCK | c.*396T>G (n.*396T>G) c.398T>G (p.Phe133Cys) n.884T>G c.401T>G (p.Phe134Cys) c.395T>G (p.Phe132Cys) c.364-17T>G (n.364-17T>G) | |
| 7 | g.44151041A>G | CA367402119 | GCK | c.*396T>C (n.*396T>C) c.398T>C (p.Phe133Ser) n.884T>C c.401T>C (p.Phe134Ser) c.395T>C (p.Phe132Ser) c.364-17T>C (n.364-17T>C) | |
| 7 | g.44151041A>T | CA367402117 | GCK | c.*396T>A (n.*396T>A) c.398T>A (p.Phe133Tyr) n.884T>A c.401T>A (p.Phe134Tyr) c.395T>A (p.Phe132Tyr) c.364-17T>A (n.364-17T>A) | |
| 7 | g.44151041_44151042del | CA645564883 | GCK | c.*395_*396del (n.*395_*396del) c.397_398del (p.Phe133ProfsTer28) n.883_884del c.400_401del (p.Phe134ProfsTer28) c.394_395del (p.Phe132ProfsTer28) c.364-18_364-17del (n.364-18_364-17del) | COSMIC COSMIC COSMIC |
| 7 | g.44151042A>C | CA367402121 | GCK | c.*395T>G (n.*395T>G) c.397T>G (p.Phe133Val) n.883T>G c.400T>G (p.Phe134Val) c.394T>G (p.Phe132Val) c.364-18T>G (n.364-18T>G) | ClinVar |
| 7 | g.44151042A>G | CA367402122 | GCK | c.*395T>C (n.*395T>C) c.397T>C (p.Phe133Leu) n.883T>C c.400T>C (p.Phe134Leu) c.394T>C (p.Phe132Leu) c.364-18T>C (n.364-18T>C) | ClinVar dbSNP |
| 7 | g.44151042A>T | CA367402124 | GCK | c.*395T>A (n.*395T>A) c.397T>A (p.Phe133Ile) n.883T>A c.400T>A (p.Phe134Ile) c.394T>A (p.Phe132Ile) c.364-18T>A (n.364-18T>A) | ClinVar |
| 7 | g.44151043G>A | CA454609854 | GCK | c.*394C>T (n.*394C>T) c.396C>T (p.Asp132=) n.882C>T c.399C>T (p.Asp133=) c.393C>T (p.Asp131=) c.364-19C>T (n.364-19C>T) | |
| 7 | g.44151043G>C | CA367402125 | GCK | c.*394C>G (n.*394C>G) c.396C>G (p.Asp132Glu) n.882C>G c.399C>G (p.Asp133Glu) c.393C>G (p.Asp131Glu) c.364-19C>G (n.364-19C>G) | |
| 7 | g.44151043G>T | CA367402127 | GCK | c.*394C>A (n.*394C>A) c.396C>A (p.Asp132Glu) n.882C>A c.399C>A (p.Asp133Glu) c.393C>A (p.Asp131Glu) c.364-19C>A (n.364-19C>A) | |
| 7 | g.44151044T>A | CA367402129 | GCK | c.*393A>T (n.*393A>T) c.395A>T (p.Asp132Val) n.881A>T c.398A>T (p.Asp133Val) c.392A>T (p.Asp131Val) c.364-20A>T (n.364-20A>T) | |
| 7 | g.44151044T>C | CA367402130 | GCK | c.*393A>G (n.*393A>G) c.395A>G (p.Asp132Gly) n.881A>G c.398A>G (p.Asp133Gly) c.392A>G (p.Asp131Gly) c.364-20A>G (n.364-20A>G) | |
| 7 | g.44151044T>G | CA367402132 | GCK | c.*393A>C (n.*393A>C) c.395A>C (p.Asp132Ala) n.881A>C c.398A>C (p.Asp133Ala) c.392A>C (p.Asp131Ala) c.364-20A>C (n.364-20A>C) | |
| 7 | g.44151045C>A | CA367402133 | GCK | c.*392G>T (n.*392G>T) c.394G>T (p.Asp132Tyr) n.880G>T c.397G>T (p.Asp133Tyr) c.391G>T (p.Asp131Tyr) c.364-21G>T (n.364-21G>T) | |
| 7 | g.44151045C= | CA1703636474 | GCK | c.*392G= (n.*392G=) c.394G= (p.Asp132=) n.880G= c.397G= (p.Asp133=) c.391G= (p.Asp131=) c.364-21G= (n.364-21G=) | |
| 7 | g.44151045C>G | CA367402134 | GCK | c.*392G>C (n.*392G>C) c.394G>C (p.Asp132His) n.880G>C c.397G>C (p.Asp133His) c.391G>C (p.Asp131His) c.364-21G>C (n.364-21G>C) | |
| 7 | g.44151045C>T | CA4239636 | GCK | c.*392G>A (n.*392G>A) c.394G>A (p.Asp132Asn) n.880G>A c.397G>A (p.Asp133Asn) c.391G>A (p.Asp131Asn) c.364-21G>A (n.364-21G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151045_44151046delinsCG | CA1703636473 | GCK | c.*391_*392delinsCG (n.*391_*392delinsCG) c.393_394delinsCG (p.Ser131=) n.879_880delinsCG c.396_397delinsCG (p.Ser132=) c.390_391delinsCG (p.Ser130=) c.364-22_364-21delinsCG (n.364-22_364-21delinsCG) | |
| 7 | g.44151046G>A | CA4239637 | GCK | c.*391C>T (n.*391C>T) c.393C>T (p.Ser131=) n.879C>T c.396C>T (p.Ser132=) c.390C>T (p.Ser130=) c.364-22C>T (n.364-22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151046G>C | CA454609857 | GCK | c.*391C>G (n.*391C>G) c.393C>G (p.Ser131=) n.879C>G c.396C>G (p.Ser132=) c.390C>G (p.Ser130=) c.364-22C>G (n.364-22C>G) | |
| 7 | g.44151046G= | CA1703636475 | GCK | c.*391C= (n.*391C=) c.393C= (p.Ser131=) n.879C= c.396C= (p.Ser132=) c.390C= (p.Ser130=) c.364-22C= (n.364-22C=) | |
| 7 | g.44151046G>T | CA454609856 | GCK | c.*391C>A (n.*391C>A) c.393C>A (p.Ser131=) n.879C>A c.396C>A (p.Ser132=) c.390C>A (p.Ser130=) c.364-22C>A (n.364-22C>A) | |
| 7 | g.44151047del | CA213781 | GCK | c.*391del (n.*391del) c.393del (p.Asp132ThrfsTer8) n.879del c.396del (p.Asp133ThrfsTer8) c.390del (p.Asp131ThrfsTer8) c.364-22del (n.364-22del) | ClinVar dbSNP |
| 7 | g.44151047G>A | CA367402138 | GCK | c.*390C>T (n.*390C>T) c.392C>T (p.Ser131Phe) n.878C>T c.395C>T (p.Ser132Phe) c.389C>T (p.Ser130Phe) c.364-23C>T (n.364-23C>T) | |
| 7 | g.44151047G>C | CA367402136 | GCK | c.*390C>G (n.*390C>G) c.392C>G (p.Ser131Cys) n.878C>G c.395C>G (p.Ser132Cys) c.389C>G (p.Ser130Cys) c.364-23C>G (n.364-23C>G) | |
| 7 | g.44151047G>T | CA367402135 | GCK | c.*390C>A (n.*390C>A) c.392C>A (p.Ser131Tyr) n.878C>A c.395C>A (p.Ser132Tyr) c.389C>A (p.Ser130Tyr) c.364-23C>A (n.364-23C>A) | |
| 7 | g.44151048A= | CA1703636476 | GCK | c.*389T= (n.*389T=) c.391T= (p.Ser131=) n.877T= c.394T= (p.Ser132=) c.388T= (p.Ser130=) c.364-24T= (n.364-24T=) | |
| 7 | g.44151048A>C | CA367402139 | GCK | c.*389T>G (n.*389T>G) c.391T>G (p.Ser131Ala) n.877T>G c.394T>G (p.Ser132Ala) c.388T>G (p.Ser130Ala) c.364-24T>G (n.364-24T>G) | |
| 7 | g.44151048A>G | CA126213 | GCK | c.*389T>C (n.*389T>C) c.391T>C (p.Ser131Pro) n.877T>C c.394T>C (p.Ser132Pro) c.388T>C (p.Ser130Pro) c.364-24T>C (n.364-24T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151048A>T | CA367402141 | GCK | c.*389T>A (n.*389T>A) c.391T>A (p.Ser131Thr) n.877T>A c.394T>A (p.Ser132Thr) c.388T>A (p.Ser130Thr) c.364-24T>A (n.364-24T>A) | |
| 7 | g.44151049del | CA2695202970 | GCK | c.*388del (n.*388del) c.390del (p.Ser131ProfsTer9) n.876del c.393del (p.Ser132ProfsTer9) c.387del (p.Ser130ProfsTer9) c.364-25del (n.364-25del) | |
| 7 | g.44151049G>A | CA454609859 | GCK | c.*388C>T (n.*388C>T) c.390C>T (p.Ile130=) n.876C>T c.393C>T (p.Ile131=) c.387C>T (p.Ile129=) c.364-25C>T (n.364-25C>T) | gnomAD v4 |
| 7 | g.44151049G>C | CA367402143 | GCK | c.*388C>G (n.*388C>G) c.390C>G (p.Ile130Met) n.876C>G c.393C>G (p.Ile131Met) c.387C>G (p.Ile129Met) c.364-25C>G (n.364-25C>G) | |
| 7 | g.44151049G>T | CA454609861 | GCK | c.*388C>A (n.*388C>A) c.390C>A (p.Ile130=) n.876C>A c.393C>A (p.Ile131=) c.387C>A (p.Ile129=) c.364-25C>A (n.364-25C>A) | |
| 7 | g.44151050A= | CA1703636477 | GCK | c.*387T= (n.*387T=) c.389T= (p.Ile130=) n.875T= c.392T= (p.Ile131=) c.386T= (p.Ile129=) c.364-26T= (n.364-26T=) | |
| 7 | g.44151050A>C | CA367402145 | GCK | c.*387T>G (n.*387T>G) c.389T>G (p.Ile130Ser) n.875T>G c.392T>G (p.Ile131Ser) c.386T>G (p.Ile129Ser) c.364-26T>G (n.364-26T>G) | |
| 7 | g.44151050A>G | CA157918200 | GCK | c.*387T>C (n.*387T>C) c.389T>C (p.Ile130Thr) n.875T>C c.392T>C (p.Ile131Thr) c.386T>C (p.Ile129Thr) c.364-26T>C (n.364-26T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44151050A>T | CA367402147 | GCK | c.*387T>A (n.*387T>A) c.389T>A (p.Ile130Asn) n.875T>A c.392T>A (p.Ile131Asn) c.386T>A (p.Ile129Asn) c.364-26T>A (n.364-26T>A) | ClinVar |
| 7 | g.44151051T>A | CA367402148 | GCK | c.*386A>T (n.*386A>T) c.388A>T (p.Ile130Phe) n.874A>T c.391A>T (p.Ile131Phe) c.385A>T (p.Ile129Phe) c.364-27A>T (n.364-27A>T) | ClinVar dbSNP |
| 7 | g.44151051T>C | CA367402150 | GCK | c.*386A>G (n.*386A>G) c.388A>G (p.Ile130Val) n.874A>G c.391A>G (p.Ile131Val) c.385A>G (p.Ile129Val) c.364-27A>G (n.364-27A>G) | |
| 7 | g.44151051T>G | CA367402151 | GCK | c.*386A>C (n.*386A>C) c.388A>C (p.Ile130Leu) n.874A>C c.391A>C (p.Ile131Leu) c.385A>C (p.Ile129Leu) c.364-27A>C (n.364-27A>C) | |
| 7 | g.44151052G>A | CA454609864 | GCK | c.*385C>T (n.*385C>T) c.387C>T (p.Cys129=) n.873C>T c.390C>T (p.Cys130=) c.384C>T (p.Cys128=) c.364-28C>T (n.364-28C>T) | |
| 7 | g.44151052G>C | CA367402152 | GCK | c.*385C>G (n.*385C>G) c.387C>G (p.Cys129Trp) n.873C>G c.390C>G (p.Cys130Trp) c.384C>G (p.Cys128Trp) c.364-28C>G (n.364-28C>G) | |
| 7 | g.44151052G= | CA1703636478 | GCK | c.*385C= (n.*385C=) c.387C= (p.Cys129=) n.873C= c.390C= (p.Cys130=) c.384C= (p.Cys128=) c.364-28C= (n.364-28C=) | |
| 7 | g.44151052G>T | CA367402154 | GCK | c.*385C>A (n.*385C>A) c.387C>A (p.Cys129Ter) n.873C>A c.390C>A (p.Cys130Ter) c.384C>A (p.Cys128Ter) c.364-28C>A (n.364-28C>A) | ClinVar dbSNP |
| 7 | g.44151053C>A | CA367402158 | GCK | c.*384G>T (n.*384G>T) c.386G>T (p.Cys129Phe) n.872G>T c.389G>T (p.Cys130Phe) c.383G>T (p.Cys128Phe) c.364-29G>T (n.364-29G>T) | ClinVar |
| 7 | g.44151053C>G | CA367402157 | GCK | c.*384G>C (n.*384G>C) c.386G>C (p.Cys129Ser) n.872G>C c.389G>C (p.Cys130Ser) c.383G>C (p.Cys128Ser) c.364-29G>C (n.364-29G>C) | |
| 7 | g.44151053C>T | CA367402156 | GCK | c.*384G>A (n.*384G>A) c.386G>A (p.Cys129Tyr) n.872G>A c.389G>A (p.Cys130Tyr) c.383G>A (p.Cys128Tyr) c.364-29G>A (n.364-29G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151054A= | CA1703636479 | GCK | c.*383T= (n.*383T=) c.385T= (p.Cys129=) n.871T= c.388T= (p.Cys130=) c.382T= (p.Cys128=) c.364-30T= (n.364-30T=) | |
| 7 | g.44151054A>C | CA367402160 | GCK | c.*383T>G (n.*383T>G) c.385T>G (p.Cys129Gly) n.871T>G c.388T>G (p.Cys130Gly) c.382T>G (p.Cys128Gly) c.364-30T>G (n.364-30T>G) | |
| 7 | g.44151054A>G | CA4239638 | GCK | c.*383T>C (n.*383T>C) c.385T>C (p.Cys129Arg) n.871T>C c.388T>C (p.Cys130Arg) c.382T>C (p.Cys128Arg) c.364-30T>C (n.364-30T>C) | dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC |
| 7 | g.44151054A>T | CA367402161 | GCK | c.*383T>A (n.*383T>A) c.385T>A (p.Cys129Ser) n.871T>A c.388T>A (p.Cys130Ser) c.382T>A (p.Cys128Ser) c.364-30T>A (n.364-30T>A) | |
| 7 | g.44151055C>A | CA367402163 | GCK | c.*382G>T (n.*382G>T) c.384G>T (p.Glu128Asp) n.870G>T c.387G>T (p.Glu129Asp) c.381G>T (p.Glu127Asp) c.364-31G>T (n.364-31G>T) | |
| 7 | g.44151055C>G | CA367402164 | GCK | c.*382G>C (n.*382G>C) c.384G>C (p.Glu128Asp) n.870G>C c.387G>C (p.Glu129Asp) c.381G>C (p.Glu127Asp) c.364-31G>C (n.364-31G>C) | ClinVar gnomAD v4 |
| 7 | g.44151055C>T | CA454609869 | GCK | c.*382G>A (n.*382G>A) c.384G>A (p.Glu128=) n.870G>A c.387G>A (p.Glu129=) c.381G>A (p.Glu127=) c.364-31G>A (n.364-31G>A) | |
| 7 | g.44151056T>A | CA367402165 | GCK | c.*381A>T (n.*381A>T) c.383A>T (p.Glu128Val) n.869A>T c.386A>T (p.Glu129Val) c.380A>T (p.Glu127Val) c.364-32A>T (n.364-32A>T) | |
| 7 | g.44151056T>C | CA367402167 | GCK | c.*381A>G (n.*381A>G) c.383A>G (p.Glu128Gly) n.869A>G c.386A>G (p.Glu129Gly) c.380A>G (p.Glu127Gly) c.364-32A>G (n.364-32A>G) | |
| 7 | g.44151056T>G | CA367402168 | GCK | c.*381A>C (n.*381A>C) c.383A>C (p.Glu128Ala) n.869A>C c.386A>C (p.Glu129Ala) c.380A>C (p.Glu127Ala) c.364-32A>C (n.364-32A>C) | |
| 7 | g.44151057del | CA2695202974 | GCK | c.*380del (n.*380del) c.382del (p.Glu128SerfsTer12) n.868del c.385del (p.Glu129SerfsTer12) c.379del (p.Glu127SerfsTer12) c.364-33del (n.364-33del) | |
| 7 | g.44151057C>A | CA367402169 | GCK | c.*380G>T (n.*380G>T) c.382G>T (p.Glu128Ter) n.868G>T c.385G>T (p.Glu129Ter) c.379G>T (p.Glu127Ter) c.364-33G>T (n.364-33G>T) | |
| 7 | g.44151057C>G | CA367402170 | GCK | c.*380G>C (n.*380G>C) c.382G>C (p.Glu128Gln) n.868G>C c.385G>C (p.Glu129Gln) c.379G>C (p.Glu127Gln) c.364-33G>C (n.364-33G>C) | |
| 7 | g.44151057C>T | CA367402172 | GCK | c.*380G>A (n.*380G>A) c.382G>A (p.Glu128Lys) n.868G>A c.385G>A (p.Glu129Lys) c.379G>A (p.Glu127Lys) c.364-33G>A (n.364-33G>A) | |
| 7 | g.44151058A>C | CA454609871 | GCK | c.*379T>G (n.*379T>G) c.381T>G (p.Ser127=) n.867T>G c.384T>G (p.Ser128=) c.378T>G (p.Ser126=) c.364-34T>G (n.364-34T>G) | |
| 7 | g.44151058A>G | CA454609873 | GCK | c.*379T>C (n.*379T>C) c.381T>C (p.Ser127=) n.867T>C c.384T>C (p.Ser128=) c.378T>C (p.Ser126=) c.364-34T>C (n.364-34T>C) | |
| 7 | g.44151058A>T | CA454609874 | GCK | c.*379T>A (n.*379T>A) c.381T>A (p.Ser127=) n.867T>A c.384T>A (p.Ser128=) c.378T>A (p.Ser126=) c.364-34T>A (n.364-34T>A) | |
| 7 | g.44151059G>A | CA367402174 | GCK | c.*378C>T (n.*378C>T) c.380C>T (p.Ser127Phe) n.866C>T c.383C>T (p.Ser128Phe) c.377C>T (p.Ser126Phe) c.364-35C>T (n.364-35C>T) | |
| 7 | g.44151059G>C | CA367402175 | GCK | c.*378C>G (n.*378C>G) c.380C>G (p.Ser127Cys) n.866C>G c.383C>G (p.Ser128Cys) c.377C>G (p.Ser126Cys) c.364-35C>G (n.364-35C>G) | |
| 7 | g.44151059G>T | CA367402177 | GCK | c.*378C>A (n.*378C>A) c.380C>A (p.Ser127Tyr) n.866C>A c.383C>A (p.Ser128Tyr) c.377C>A (p.Ser126Tyr) c.364-35C>A (n.364-35C>A) | |
| 7 | g.44151060A= | CA1703636480 | GCK | c.*377T= (n.*377T=) c.379T= (p.Ser127=) n.865T= c.382T= (p.Ser128=) c.376T= (p.Ser126=) c.364-36T= (n.364-36T=) | |
| 7 | g.44151060A>C | CA367402181 | GCK | c.*377T>G (n.*377T>G) c.379T>G (p.Ser127Ala) n.865T>G c.382T>G (p.Ser128Ala) c.376T>G (p.Ser126Ala) c.364-36T>G (n.364-36T>G) | ClinVar |
| 7 | g.44151060A>G | CA367402179 | GCK | c.*377T>C (n.*377T>C) c.379T>C (p.Ser127Pro) n.865T>C c.382T>C (p.Ser128Pro) c.376T>C (p.Ser126Pro) c.364-36T>C (n.364-36T>C) | |
| 7 | g.44151060A>T | CA367402178 | GCK | c.*377T>A (n.*377T>A) c.379T>A (p.Ser127Thr) n.865T>A c.382T>A (p.Ser128Thr) c.376T>A (p.Ser126Thr) c.364-36T>A (n.364-36T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151061G>A | CA454609876 | GCK | c.*376C>T (n.*376C>T) c.378C>T (p.Ile126=) n.864C>T c.381C>T (p.Ile127=) c.375C>T (p.Ile125=) c.364-37C>T (n.364-37C>T) | |
| 7 | g.44151061G>C | CA367402182 | GCK | c.*376C>G (n.*376C>G) c.378C>G (p.Ile126Met) n.864C>G c.381C>G (p.Ile127Met) c.375C>G (p.Ile125Met) c.364-37C>G (n.364-37C>G) | |
| 7 | g.44151061G>T | CA454609878 | GCK | c.*376C>A (n.*376C>A) c.378C>A (p.Ile126=) n.864C>A c.381C>A (p.Ile127=) c.375C>A (p.Ile125=) c.364-37C>A (n.364-37C>A) | |
| 7 | g.44151062A= | CA1703636481 | GCK | c.*375T= (n.*375T=) c.377T= (p.Ile126=) n.863T= c.380T= (p.Ile127=) c.374T= (p.Ile125=) c.364-38T= (n.364-38T=) | |
| 7 | g.44151062A>C | CA367402184 | GCK | c.*375T>G (n.*375T>G) c.377T>G (p.Ile126Ser) n.863T>G c.380T>G (p.Ile127Ser) c.374T>G (p.Ile125Ser) c.364-38T>G (n.364-38T>G) | |
| 7 | g.44151062A>G | CA367402185 | GCK | c.*375T>C (n.*375T>C) c.377T>C (p.Ile126Thr) n.863T>C c.380T>C (p.Ile127Thr) c.374T>C (p.Ile125Thr) c.364-38T>C (n.364-38T>C) | ClinVar dbSNP |
| 7 | g.44151062A>T | CA367402186 | GCK | c.*375T>A (n.*375T>A) c.377T>A (p.Ile126Asn) n.863T>A c.380T>A (p.Ile127Asn) c.374T>A (p.Ile125Asn) c.364-38T>A (n.364-38T>A) | gnomAD v4 |
| 7 | g.44151063T>A | CA367402187 | GCK | c.*374A>T (n.*374A>T) c.376A>T (p.Ile126Phe) n.862A>T c.379A>T (p.Ile127Phe) c.373A>T (p.Ile125Phe) c.364-39A>T (n.364-39A>T) | |
| 7 | g.44151063T>C | CA367402188 | GCK | c.*374A>G (n.*374A>G) c.376A>G (p.Ile126Val) n.862A>G c.379A>G (p.Ile127Val) c.373A>G (p.Ile125Val) c.364-39A>G (n.364-39A>G) | |
| 7 | g.44151063T>G | CA367402189 | GCK | c.*374A>C (n.*374A>C) c.376A>C (p.Ile126Leu) n.862A>C c.379A>C (p.Ile127Leu) c.373A>C (p.Ile125Leu) c.364-39A>C (n.364-39A>C) | gnomAD v4 |
| 7 | g.44151064G>A | CA157918207 | GCK | c.*373C>T (n.*373C>T) c.375C>T (p.Tyr125=) n.861C>T c.378C>T (p.Tyr126=) c.372C>T (p.Tyr124=) c.364-40C>T (n.364-40C>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151064G>C | CA367402190 | GCK | c.*373C>G (n.*373C>G) c.375C>G (p.Tyr125Ter) n.861C>G c.378C>G (p.Tyr126Ter) c.372C>G (p.Tyr124Ter) c.364-40C>G (n.364-40C>G) | |
| 7 | g.44151064G= | CA1703636482 | GCK | c.*373C= (n.*373C=) c.375C= (p.Tyr125=) n.861C= c.378C= (p.Tyr126=) c.372C= (p.Tyr124=) c.364-40C= (n.364-40C=) | |
| 7 | g.44151064G>T | CA367402191 | GCK | c.*373C>A (n.*373C>A) c.375C>A (p.Tyr125Ter) n.861C>A c.378C>A (p.Tyr126Ter) c.372C>A (p.Tyr124Ter) c.364-40C>A (n.364-40C>A) | |
| 7 | g.44151066_44151068del | CA2695202975 | GCK | c.*371_*373del (n.*371_*373del) c.373_375del (p.Tyr125del) n.859_861del c.376_378del (p.Tyr126del) c.370_372del (p.Tyr124del) c.364-42_364-40del (n.364-42_364-40del) | |
| 7 | g.44151065T>A | CA367402193 | GCK | c.*372A>T (n.*372A>T) c.374A>T (p.Tyr125Phe) n.860A>T c.377A>T (p.Tyr126Phe) c.371A>T (p.Tyr124Phe) c.364-41A>T (n.364-41A>T) | |
| 7 | g.44151065T>C | CA367402194 | GCK | c.*372A>G (n.*372A>G) c.374A>G (p.Tyr125Cys) n.860A>G c.377A>G (p.Tyr126Cys) c.371A>G (p.Tyr124Cys) c.364-41A>G (n.364-41A>G) | ClinVar |
| 7 | g.44151065T>G | CA367402196 | GCK | c.*372A>C (n.*372A>C) c.374A>C (p.Tyr125Ser) n.860A>C c.377A>C (p.Tyr126Ser) c.371A>C (p.Tyr124Ser) c.364-41A>C (n.364-41A>C) | |
| 7 | g.44151065_44151072dup | CA913185081 | GCK | c.*365_*372dup (n.*365_*372dup) c.367_374dup (p.Ile126SerfsTer17) n.853_860dup c.370_377dup (p.Ile127SerfsTer17) c.364_371dup (p.Ile125SerfsTer17) c.364-48_364-41dup (n.364-48_364-41dup) | |
| 7 | g.44151066A>C | CA367402200 | GCK | c.*371T>G (n.*371T>G) c.373T>G (p.Tyr125Asp) n.859T>G c.376T>G (p.Tyr126Asp) c.370T>G (p.Tyr124Asp) c.364-42T>G (n.364-42T>G) | |
| 7 | g.44151066A>G | CA367402199 | GCK | c.*371T>C (n.*371T>C) c.373T>C (p.Tyr125His) n.859T>C c.376T>C (p.Tyr126His) c.370T>C (p.Tyr124His) c.364-42T>C (n.364-42T>C) | gnomAD v4 |
| 7 | g.44151066A>T | CA367402197 | GCK | c.*371T>A (n.*371T>A) c.373T>A (p.Tyr125Asn) n.859T>A c.376T>A (p.Tyr126Asn) c.370T>A (p.Tyr124Asn) c.364-42T>A (n.364-42T>A) | ClinVar |
| 7 | g.44151067G>A | CA454609880 | GCK | c.*370C>T (n.*370C>T) c.372C>T (p.Asp124=) n.858C>T c.375C>T (p.Asp125=) c.369C>T (p.Asp123=) c.364-43C>T (n.364-43C>T) | |
| 7 | g.44151067G>C | CA367402202 | GCK | c.*370C>G (n.*370C>G) c.372C>G (p.Asp124Glu) n.858C>G c.375C>G (p.Asp125Glu) c.369C>G (p.Asp123Glu) c.364-43C>G (n.364-43C>G) | |
| 7 | g.44151067G>T | CA367402203 | GCK | c.*370C>A (n.*370C>A) c.372C>A (p.Asp124Glu) n.858C>A c.375C>A (p.Asp125Glu) c.369C>A (p.Asp123Glu) c.364-43C>A (n.364-43C>A) | |
| 7 | g.44151068T>A | CA367402205 | GCK | c.*369A>T (n.*369A>T) c.371A>T (p.Asp124Val) n.857A>T c.374A>T (p.Asp125Val) c.368A>T (p.Asp123Val) c.364-44A>T (n.364-44A>T) | ClinVar dbSNP |
| 7 | g.44151068T>C | CA367402207 | GCK | c.*369A>G (n.*369A>G) c.371A>G (p.Asp124Gly) n.857A>G c.374A>G (p.Asp125Gly) c.368A>G (p.Asp123Gly) c.364-44A>G (n.364-44A>G) | |
| 7 | g.44151068T>G | CA367402208 | GCK | c.*369A>C (n.*369A>C) c.371A>C (p.Asp124Ala) n.857A>C c.374A>C (p.Asp125Ala) c.368A>C (p.Asp123Ala) c.364-44A>C (n.364-44A>C) | |
| 7 | g.44151068T= | CA1703636483 | GCK | c.*369A= (n.*369A=) c.371A= (p.Asp124=) n.857A= c.374A= (p.Asp125=) c.368A= (p.Asp123=) c.364-44A= (n.364-44A=) | |
| 7 | g.44151069C>A | CA367402210 | GCK | c.*368G>T (n.*368G>T) c.370G>T (p.Asp124Tyr) n.856G>T c.373G>T (p.Asp125Tyr) c.367G>T (p.Asp123Tyr) c.364-45G>T (n.364-45G>T) | |
| 7 | g.44151069C= | CA1703636484 | GCK | c.*368G= (n.*368G=) c.370G= (p.Asp124=) n.856G= c.373G= (p.Asp125=) c.367G= (p.Asp123=) c.364-45G= (n.364-45G=) | |
| 7 | g.44151069C>G | CA367402212 | GCK | c.*368G>C (n.*368G>C) c.370G>C (p.Asp124His) n.856G>C c.373G>C (p.Asp125His) c.367G>C (p.Asp123His) c.364-45G>C (n.364-45G>C) | ClinVar dbSNP |
| 7 | g.44151069C>T | CA206547 | GCK | c.*368G>A (n.*368G>A) c.370G>A (p.Asp124Asn) n.856G>A c.373G>A (p.Asp125Asn) c.367G>A (p.Asp123Asn) c.364-45G>A (n.364-45G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151070G>A | CA454609884 | GCK | c.*367C>T (n.*367C>T) c.369C>T (p.Phe123=) n.855C>T c.372C>T (p.Phe124=) c.366C>T (p.Phe122=) c.364-46C>T (n.364-46C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44151070G>C | CA367402213 | GCK | c.*367C>G (n.*367C>G) c.369C>G (p.Phe123Leu) n.855C>G c.372C>G (p.Phe124Leu) c.366C>G (p.Phe122Leu) c.364-46C>G (n.364-46C>G) | |
| 7 | g.44151070G= | CA1703636485 | GCK | c.*367C= (n.*367C=) c.369C= (p.Phe123=) n.855C= c.372C= (p.Phe124=) c.366C= (p.Phe122=) c.364-46C= (n.364-46C=) | |
| 7 | g.44151070G>T | CA367402215 | GCK | c.*367C>A (n.*367C>A) c.369C>A (p.Phe123Leu) n.855C>A c.372C>A (p.Phe124Leu) c.366C>A (p.Phe122Leu) c.364-46C>A (n.364-46C>A) | COSMIC |
| 7 | g.44151071A>C | CA367402217 | GCK | c.*366T>G (n.*366T>G) c.368T>G (p.Phe123Cys) n.854T>G c.371T>G (p.Phe124Cys) c.365T>G (p.Phe122Cys) c.364-47T>G (n.364-47T>G) | |
| 7 | g.44151071A>G | CA367402218 | GCK | c.*366T>C (n.*366T>C) c.368T>C (p.Phe123Ser) n.854T>C c.371T>C (p.Phe124Ser) c.365T>C (p.Phe122Ser) c.364-47T>C (n.364-47T>C) | ClinVar |
| 7 | g.44151071A>T | CA367402220 | GCK | c.*366T>A (n.*366T>A) c.368T>A (p.Phe123Tyr) n.854T>A c.371T>A (p.Phe124Tyr) c.365T>A (p.Phe122Tyr) c.364-47T>A (n.364-47T>A) | |
| 7 | g.44151072A>C | CA367402224 | GCK | c.*365T>G (n.*365T>G) c.367T>G (p.Phe123Val) n.853T>G c.370T>G (p.Phe124Val) c.364T>G (p.Phe122Val) c.364-48T>G (n.364-48T>G) | |
| 7 | g.44151072A>G | CA367402221 | GCK | c.*365T>C (n.*365T>C) c.367T>C (p.Phe123Leu) n.853T>C c.370T>C (p.Phe124Leu) c.364T>C (p.Phe122Leu) c.364-48T>C (n.364-48T>C) | ClinVar |
| 7 | g.44151072A>T | CA367402223 | GCK | c.*365T>A (n.*365T>A) c.367T>A (p.Phe123Ile) n.853T>A c.370T>A (p.Phe124Ile) c.364T>A (p.Phe122Ile) c.364-48T>A (n.364-48T>A) | |
| 7 | g.44151073G>A | CA454609888 | GCK | c.*364C>T (n.*364C>T) c.366C>T (p.Leu122=) n.852C>T c.369C>T (p.Leu123=) c.363C>T (p.Leu121=) c.364-49C>T (n.364-49C>T) | COSMIC COSMIC COSMIC |
| 7 | g.44151073G>C | CA454609889 | GCK | c.*364C>G (n.*364C>G) c.366C>G (p.Leu122=) n.852C>G c.369C>G (p.Leu123=) c.363C>G (p.Leu121=) c.364-49C>G (n.364-49C>G) | dbSNP |
| 7 | g.44151073G= | CA1703636486 | GCK | c.*364C= (n.*364C=) c.366C= (p.Leu122=) n.852C= c.369C= (p.Leu123=) c.363C= (p.Leu121=) c.364-49C= (n.364-49C=) | |
| 7 | g.44151073G>T | CA454609891 | GCK | c.*364C>A (n.*364C>A) c.366C>A (p.Leu122=) n.852C>A c.369C>A (p.Leu123=) c.363C>A (p.Leu121=) c.364-49C>A (n.364-49C>A) | |
| 7 | g.44151074A>C | CA367402226 | GCK | c.*363T>G (n.*363T>G) c.365T>G (p.Leu122Arg) n.851T>G c.368T>G (p.Leu123Arg) c.362T>G (p.Leu121Arg) c.364-50T>G (n.364-50T>G) | |
| 7 | g.44151074A>G | CA367402227 | GCK | c.*363T>C (n.*363T>C) c.365T>C (p.Leu122Pro) n.851T>C c.368T>C (p.Leu123Pro) c.362T>C (p.Leu121Pro) c.364-50T>C (n.364-50T>C) | ClinVar |
| 7 | g.44151074A>T | CA367402229 | GCK | c.*363T>A (n.*363T>A) c.365T>A (p.Leu122His) n.851T>A c.368T>A (p.Leu123His) c.362T>A (p.Leu121His) c.364-50T>A (n.364-50T>A) | |
| 7 | g.44151075G>A | CA367402230 | GCK | c.*362C>T (n.*362C>T) c.364C>T (p.Leu122Phe) n.850C>T c.367C>T (p.Leu123Phe) c.361C>T (p.Leu121Phe) c.364-51C>T (n.364-51C>T) | gnomAD v4 |
| 7 | g.44151075G>C | CA367402231 | GCK | c.*362C>G (n.*362C>G) c.364C>G (p.Leu122Val) n.850C>G c.367C>G (p.Leu123Val) c.361C>G (p.Leu121Val) c.364-51C>G (n.364-51C>G) | ClinVar dbSNP |
| 7 | g.44151075G= | CA1703636487 | GCK | c.*362C= (n.*362C=) c.364C= (p.Leu122=) n.850C= c.367C= (p.Leu123=) c.361C= (p.Leu121=) c.364-51C= (n.364-51C=) | |
| 7 | g.44151075G>T | CA367402232 | GCK | c.*362C>A (n.*362C>A) c.364C>A (p.Leu122Ile) n.850C>A c.367C>A (p.Leu123Ile) c.361C>A (p.Leu121Ile) c.364-51C>A (n.364-51C>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151076C>A | CA367402234 | GCK | c.*362-1G>T (n.*362-1G>T) c.364-1G>T (n.364-1G>T) n.850-1G>T c.367-1G>T (n.367-1G>T) c.361-1G>T (n.361-1G>T) c.364-52G>T (n.364-52G>T) | |
| 7 | g.44151076C= | CA1703636488 | GCK | c.*362-1G= (n.*362-1G=) c.364-1G= (n.364-1G=) n.850-1G= c.367-1G= (n.367-1G=) c.361-1G= (n.361-1G=) c.364-52G= (n.364-52G=) | |
| 7 | g.44151076C>G | CA367402236 | GCK | c.*362-1G>C (n.*362-1G>C) c.364-1G>C (n.364-1G>C) n.850-1G>C c.367-1G>C (n.367-1G>C) c.361-1G>C (n.361-1G>C) c.364-52G>C (n.364-52G>C) | ClinVar |
| 7 | g.44151076C>T | CA16605220 | GCK | c.*362-1G>A (n.*362-1G>A) c.364-1G>A (n.364-1G>A) n.850-1G>A c.367-1G>A (n.367-1G>A) c.361-1G>A (n.361-1G>A) c.364-52G>A (n.364-52G>A) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44151077T>A | CA367402237 | GCK | c.*362-2A>T (n.*362-2A>T) c.364-2A>T (n.364-2A>T) n.850-2A>T c.367-2A>T (n.367-2A>T) c.361-2A>T (n.361-2A>T) c.364-53A>T (n.364-53A>T) | |
| 7 | g.44151077T>C | CA367402239 | GCK | c.*362-2A>G (n.*362-2A>G) c.364-2A>G (n.364-2A>G) n.850-2A>G c.367-2A>G (n.367-2A>G) c.361-2A>G (n.361-2A>G) c.364-53A>G (n.364-53A>G) | |
| 7 | g.44151077T>G | CA367402240 | GCK | c.*362-2A>C (n.*362-2A>C) c.364-2A>C (n.364-2A>C) n.850-2A>C c.367-2A>C (n.367-2A>C) c.361-2A>C (n.361-2A>C) c.364-53A>C (n.364-53A>C) | |
| 7 | g.44151079G>A | CA573798431 | GCK | c.*362-4C>T (n.*362-4C>T) c.364-4C>T (n.364-4C>T) n.850-4C>T c.367-4C>T (n.367-4C>T) c.361-4C>T (n.361-4C>T) c.364-55C>T (n.364-55C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44151079G= | CA1703636489 | GCK | c.*362-4C= (n.*362-4C=) c.364-4C= (n.364-4C=) n.850-4C= c.367-4C= (n.367-4C=) c.361-4C= (n.361-4C=) c.364-55C= (n.364-55C=) | |
| 7 | g.44151079G>T | CA2682575511 | GCK | c.*362-4C>A (n.*362-4C>A) c.364-4C>A (n.364-4C>A) n.850-4C>A c.367-4C>A (n.367-4C>A) c.361-4C>A (n.361-4C>A) c.364-55C>A (n.364-55C>A) | gnomAD v4 |
| 7 | g.44151080A>T | CA2714458666 | GCK | c.*362-5T>A (n.*362-5T>A) c.364-5T>A (n.364-5T>A) n.850-5T>A c.367-5T>A (n.367-5T>A) c.361-5T>A (n.361-5T>A) c.364-56T>A (n.364-56T>A) | dbSNP |
| 7 | g.44151081A= | CA1703636490 | GCK | c.*362-6T= (n.*362-6T=) c.364-6T= (n.364-6T=) n.850-6T= c.367-6T= (n.367-6T=) c.361-6T= (n.361-6T=) c.364-57T= (n.364-57T=) | |
| 7 | g.44151081A>G | CA4239639 | GCK | c.*362-6T>C (n.*362-6T>C) c.364-6T>C (n.364-6T>C) n.850-6T>C c.367-6T>C (n.367-6T>C) c.361-6T>C (n.361-6T>C) c.364-57T>C (n.364-57T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151082_44151083delinsGA | CA1703636491 | GCK | c.*362-8_*362-7delinsTC (n.*362-8_*362-7delinsTC) c.364-8_364-7delinsTC (n.364-8_364-7delinsTC) n.850-8_850-7delinsTC c.367-8_367-7delinsTC (n.367-8_367-7delinsTC) c.361-8_361-7delinsTC (n.361-8_361-7delinsTC) c.364-59_364-58delinsTC (n.364-59_364-58delinsTC) | |
| 7 | g.44151083del | CA1100760738 | GCK | c.*362-8del (n.*362-8del) c.364-8del (n.364-8del) n.850-8del c.367-8del (n.367-8del) c.361-8del (n.361-8del) c.364-59del (n.364-59del) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44151083A>G | CA2682575518 | GCK | c.*362-8T>C (n.*362-8T>C) c.364-8T>C (n.364-8T>C) n.850-8T>C c.367-8T>C (n.367-8T>C) c.361-8T>C (n.361-8T>C) c.364-59T>C (n.364-59T>C) | gnomAD v4 |
| 7 | g.44151085G>A | CA573798434 | GCK | c.*362-10C>T (n.*362-10C>T) c.364-10C>T (n.364-10C>T) n.850-10C>T c.367-10C>T (n.367-10C>T) c.361-10C>T (n.361-10C>T) c.364-61C>T (n.364-61C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151085G= | CA1703636492 | GCK | c.*362-10C= (n.*362-10C=) c.364-10C= (n.364-10C=) n.850-10C= c.367-10C= (n.367-10C=) c.361-10C= (n.361-10C=) c.364-61C= (n.364-61C=) | |
| 7 | g.44151087_44151126dup | CA2682575523 | GCK | c.*362-50_*362-11dup (n.*362-50_*362-11dup) c.364-50_364-11dup (n.364-50_364-11dup) n.850-50_850-11dup c.367-50_367-11dup (n.367-50_367-11dup) c.361-50_361-11dup (n.361-50_361-11dup) c.364-101_364-62dup (n.364-101_364-62dup) | gnomAD v4 |
| 7 | g.44151088C>A | CA2682575529 | GCK | c.*362-13G>T (n.*362-13G>T) c.364-13G>T (n.364-13G>T) n.850-13G>T c.367-13G>T (n.367-13G>T) c.361-13G>T (n.361-13G>T) c.364-64G>T (n.364-64G>T) | gnomAD v4 |
| 7 | g.44151088C= | CA1703636493 | GCK | c.*362-13G= (n.*362-13G=) c.364-13G= (n.364-13G=) n.850-13G= c.367-13G= (n.367-13G=) c.361-13G= (n.361-13G=) c.364-64G= (n.364-64G=) | |
| 7 | g.44151088C>T | CA4239640 | GCK | c.*362-13G>A (n.*362-13G>A) c.364-13G>A (n.364-13G>A) n.850-13G>A c.367-13G>A (n.367-13G>A) c.361-13G>A (n.361-13G>A) c.364-64G>A (n.364-64G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151089G>A | CA4239641 | GCK | c.*362-14C>T (n.*362-14C>T) c.364-14C>T (n.364-14C>T) n.850-14C>T c.367-14C>T (n.367-14C>T) c.361-14C>T (n.361-14C>T) c.364-65C>T (n.364-65C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151089G= | CA1703636494 | GCK | c.*362-14C= (n.*362-14C=) c.364-14C= (n.364-14C=) n.850-14C= c.367-14C= (n.367-14C=) c.361-14C= (n.361-14C=) c.364-65C= (n.364-65C=) | |
| 7 | g.44151090C= | CA1703636495 | GCK | c.*362-15G= (n.*362-15G=) c.364-15G= (n.364-15G=) n.850-15G= c.367-15G= (n.367-15G=) c.361-15G= (n.361-15G=) c.364-66G= (n.364-66G=) | |
| 7 | g.44151090C>T | CA157918234 | GCK | c.*362-15G>A (n.*362-15G>A) c.364-15G>A (n.364-15G>A) n.850-15G>A c.367-15G>A (n.367-15G>A) c.361-15G>A (n.361-15G>A) c.364-66G>A (n.364-66G>A) | dbSNP |
| 7 | g.44151092A= | CA1703636499 | GCK | c.*362-17T= (n.*362-17T=) c.364-17T= (n.364-17T=) n.850-17T= c.367-17T= (n.367-17T=) c.361-17T= (n.361-17T=) c.364-68T= (n.364-68T=) | |
| 7 | g.44151092A>C | CA1703636498 | GCK | c.*362-17T>G (n.*362-17T>G) c.364-17T>G (n.364-17T>G) n.850-17T>G c.367-17T>G (n.367-17T>G) c.361-17T>G (n.361-17T>G) c.364-68T>G (n.364-68T>G) | dbSNP |
| 7 | g.44151092A>G | CA1703636497 | GCK | c.*362-17T>C (n.*362-17T>C) c.364-17T>C (n.364-17T>C) n.850-17T>C c.367-17T>C (n.367-17T>C) c.361-17T>C (n.361-17T>C) c.364-68T>C (n.364-68T>C) | dbSNP gnomAD v4 |
| 7 | g.44151092_44151121delinsATGGTGACCATCTGGCATGGGGGGGTGCGC | CA1703636496 | GCK | c.*362-46_*362-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT (n.*362-46_*362-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT) c.364-46_364-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT (n.364-46_364-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT) n.850-46_850-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT c.367-46_367-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT (n.367-46_367-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT) c.361-46_361-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT (n.361-46_361-17delinsGCGCACCCCCCCATGCCAGATGGTCACCAT) c.364-97_364-68delinsGCGCACCCCCCCATGCCAGATGGTCACCAT (n.364-97_364-68delinsGCGCACCCCCCCATGCCAGATGGTCACCAT) | |
| 7 | g.44151093T>C | CA4239642 | GCK | c.*362-18A>G (n.*362-18A>G) c.364-18A>G (n.364-18A>G) n.850-18A>G c.367-18A>G (n.367-18A>G) c.361-18A>G (n.361-18A>G) c.364-69A>G (n.364-69A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44151093T>G | CA4239643 | GCK | c.*362-18A>C (n.*362-18A>C) c.364-18A>C (n.364-18A>C) n.850-18A>C c.367-18A>C (n.367-18A>C) c.361-18A>C (n.361-18A>C) c.364-69A>C (n.364-69A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44151093T= | CA1703636500 | GCK | c.*362-18A= (n.*362-18A=) c.364-18A= (n.364-18A=) n.850-18A= c.367-18A= (n.367-18A=) c.361-18A= (n.361-18A=) c.364-69A= (n.364-69A=) | |
| 7 | g.44151096_44151124del | CA838781924 | GCK | c.*362-46_*362-18del (n.*362-46_*362-18del) c.364-46_364-18del (n.364-46_364-18del) n.850-46_850-18del c.367-46_367-18del (n.367-46_367-18del) c.361-46_361-18del (n.361-46_361-18del) c.364-97_364-69del (n.364-97_364-69del) | dbSNP gnomAD v3 gnomAD v4 |