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.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 |