| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44147702_44147809del | CA2695203087 | GCK | c.*707_*814del (n.*707_*814del) c.709_816del (p.Glu237_Glu272del) c.712_819del (p.Glu238_Glu273del) c.706_813del (p.Glu236_Glu271del) c.658_765del (p.Glu220_Glu255del) n.36_82+61del | |
| 7 | g.44147716_44147730del | CA2695203089 | GCK | c.*785_*799del (n.*785_*799del) c.787_801del (p.Ser263_Asp267del) c.790_804del (p.Ser264_Asp268del) c.784_798del (p.Ser262_Asp266del) c.736_750del (p.Ser246_Asp250del) n.50_64del | |
| 7 | g.44147722_44147723dup | CA2695203090 | GCK | c.*788_*789dup (n.*788_*789dup) c.790_791dup (p.Glu265AlafsTer23) c.793_794dup (p.Glu266AlafsTer30) c.790_791dup (p.Glu265AlafsTer30) c.790_791dup (p.Glu265AlafsTer?) c.787_788dup (p.Glu264AlafsTer30) c.739_740dup (p.Glu248AlafsTer30) n.56_57dup | |
| 7 | g.44147723C>A | CA367400553 | GCK | c.*788G>T (n.*788G>T) c.790G>T (p.Gly264Cys) c.793G>T (p.Gly265Cys) c.787G>T (p.Gly263Cys) c.739G>T (p.Gly247Cys) n.57C>A | |
| 7 | g.44147723C= | CA1703634904 | GCK | c.*788G= (n.*788G=) c.790G= (p.Gly264=) c.793G= (p.Gly265=) c.787G= (p.Gly263=) c.739G= (p.Gly247=) n.57C= | |
| 7 | g.44147723C>G | CA367400554 | GCK | c.*788G>C (n.*788G>C) c.790G>C (p.Gly264Arg) c.793G>C (p.Gly265Arg) c.787G>C (p.Gly263Arg) c.739G>C (p.Gly247Arg) n.57C>G | |
| 7 | g.44147723C>T | CA341589 | GCK | c.*788G>A (n.*788G>A) c.790G>A (p.Gly264Ser) c.793G>A (p.Gly265Ser) c.787G>A (p.Gly263Ser) c.739G>A (p.Gly247Ser) n.57C>T | ClinVar dbSNP |
| 7 | g.44147724G>A | CA4239523 | GCK | c.*787C>T (n.*787C>T) c.789C>T (p.Ser263=) c.792C>T (p.Ser264=) c.786C>T (p.Ser262=) c.738C>T (p.Ser246=) n.58G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147724G>C | CA454608693 | GCK | c.*787C>G (n.*787C>G) c.789C>G (p.Ser263=) c.792C>G (p.Ser264=) c.786C>G (p.Ser262=) c.738C>G (p.Ser246=) n.58G>C | |
| 7 | g.44147724G= | CA1703634905 | GCK | c.*787C= (n.*787C=) c.789C= (p.Ser263=) c.792C= (p.Ser264=) c.786C= (p.Ser262=) c.738C= (p.Ser246=) n.58G= | |
| 7 | g.44147724G>T | CA454608691 | GCK | c.*787C>A (n.*787C>A) c.789C>A (p.Ser263=) c.792C>A (p.Ser264=) c.786C>A (p.Ser262=) c.738C>A (p.Ser246=) n.58G>T | dbSNP gnomAD v2 |
| 7 | g.44147725del | CA2695203091 | GCK | c.*787del (n.*787del) c.789del (p.Gly264AlafsTer23) c.792del (p.Gly265AlafsTer?) c.789del (p.Gly264AlafsTer?) c.786del (p.Gly263AlafsTer?) c.738del (p.Gly247AlafsTer?) n.59del | |
| 7 | g.44147724_44147728del | CA2682588955 | GCK | c.*783_*787del (n.*783_*787del) c.785_789del (p.Asp262GlyfsTer11) c.788_792del (p.Asp263GlyfsTer11) c.782_786del (p.Asp261GlyfsTer11) c.734_738del (p.Asp245GlyfsTer11) n.58_62del | gnomAD v4 |
| 7 | g.44147725G>A | CA367400555 | GCK | c.*786C>T (n.*786C>T) c.788C>T (p.Ser263Phe) c.791C>T (p.Ser264Phe) c.785C>T (p.Ser262Phe) c.737C>T (p.Ser246Phe) n.59G>A | COSMIC COSMIC COSMIC |
| 7 | g.44147725G>C | CA367400556 | GCK | c.*786C>G (n.*786C>G) c.788C>G (p.Ser263Cys) c.791C>G (p.Ser264Cys) c.785C>G (p.Ser262Cys) c.737C>G (p.Ser246Cys) n.59G>C | |
| 7 | g.44147725G>T | CA367400557 | GCK | c.*786C>A (n.*786C>A) c.788C>A (p.Ser263Tyr) c.791C>A (p.Ser264Tyr) c.785C>A (p.Ser262Tyr) c.737C>A (p.Ser246Tyr) n.59G>T | gnomAD v4 |
| 7 | g.44147726A= | CA1703634906 | GCK | c.*785T= (n.*785T=) c.787T= (p.Ser263=) c.790T= (p.Ser264=) c.784T= (p.Ser262=) c.736T= (p.Ser246=) n.60A= | |
| 7 | g.44147726A>C | CA367400559 | GCK | c.*785T>G (n.*785T>G) c.787T>G (p.Ser263Ala) c.790T>G (p.Ser264Ala) c.784T>G (p.Ser262Ala) c.736T>G (p.Ser246Ala) n.60A>C | |
| 7 | g.44147726A>G | CA152961 | GCK | c.*785T>C (n.*785T>C) c.787T>C (p.Ser263Pro) c.790T>C (p.Ser264Pro) c.784T>C (p.Ser262Pro) c.736T>C (p.Ser246Pro) n.60A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147726A>T | CA367400558 | GCK | c.*785T>A (n.*785T>A) c.787T>A (p.Ser263Thr) c.790T>A (p.Ser264Thr) c.784T>A (p.Ser262Thr) c.736T>A (p.Ser246Thr) n.60A>T | |
| 7 | g.44147727del | CA2740097355 | GCK | c.*784del (n.*784del) c.786del (p.Ser263ProfsTer24) c.789del (p.Ser264ProfsTer?) c.786del (p.Ser263ProfsTer?) c.783del (p.Ser262ProfsTer?) c.735del (p.Ser246ProfsTer?) n.61del | ClinVar |
| 7 | g.44147727G>A | CA454608697 | GCK | c.*784C>T (n.*784C>T) c.786C>T (p.Asp262=) c.789C>T (p.Asp263=) c.783C>T (p.Asp261=) c.735C>T (p.Asp245=) n.61G>A | |
| 7 | g.44147727G>C | CA367400560 | GCK | c.*784C>G (n.*784C>G) c.786C>G (p.Asp262Glu) c.789C>G (p.Asp263Glu) c.783C>G (p.Asp261Glu) c.735C>G (p.Asp245Glu) n.61G>C | |
| 7 | g.44147727G>T | CA367400561 | GCK | c.*784C>A (n.*784C>A) c.786C>A (p.Asp262Glu) c.789C>A (p.Asp263Glu) c.783C>A (p.Asp261Glu) c.735C>A (p.Asp245Glu) n.61G>T | |
| 7 | g.44147728del | CA2739265444 | GCK | c.*783del (n.*783del) c.785del (p.Asp262AlafsTer25) c.788del (p.Asp263AlafsTer?) c.785del (p.Asp262AlafsTer?) c.782del (p.Asp261AlafsTer?) c.734del (p.Asp245AlafsTer?) n.62del | ClinVar |
| 7 | g.44147728T>A | CA367400562 | GCK | c.*783A>T (n.*783A>T) c.785A>T (p.Asp262Val) c.788A>T (p.Asp263Val) c.782A>T (p.Asp261Val) c.734A>T (p.Asp245Val) n.62T>A | |
| 7 | g.44147728T>C | CA367400563 | GCK | c.*783A>G (n.*783A>G) c.785A>G (p.Asp262Gly) c.788A>G (p.Asp263Gly) c.782A>G (p.Asp261Gly) c.734A>G (p.Asp245Gly) n.62T>C | |
| 7 | g.44147728T>G | CA367400564 | GCK | c.*783A>C (n.*783A>C) c.785A>C (p.Asp262Ala) c.788A>C (p.Asp263Ala) c.782A>C (p.Asp261Ala) c.734A>C (p.Asp245Ala) n.62T>G | |
| 7 | g.44147728dup | CA2580077178 | GCK | c.*783dup (n.*783dup) c.785dup (p.Asp262GlufsTer13) c.788dup (p.Asp263GlufsTer13) c.782dup (p.Asp261GlufsTer13) c.734dup (p.Asp245GlufsTer13) n.62dup | ClinVar |
| 7 | g.44147729C>A | CA367400565 | GCK | c.*782G>T (n.*782G>T) c.784G>T (p.Asp262Tyr) c.787G>T (p.Asp263Tyr) c.781G>T (p.Asp261Tyr) c.733G>T (p.Asp245Tyr) n.63C>A | dbSNP |
| 7 | g.44147729C= | CA1703634907 | GCK | c.*782G= (n.*782G=) c.784G= (p.Asp262=) c.787G= (p.Asp263=) c.781G= (p.Asp261=) c.733G= (p.Asp245=) n.63C= | |
| 7 | g.44147729C>G | CA367400566 | GCK | c.*782G>C (n.*782G>C) c.784G>C (p.Asp262His) c.787G>C (p.Asp263His) c.781G>C (p.Asp261His) c.733G>C (p.Asp245His) n.63C>G | |
| 7 | g.44147729C>T | CA206279 | GCK | c.*782G>A (n.*782G>A) c.784G>A (p.Asp262Asn) c.787G>A (p.Asp263Asn) c.781G>A (p.Asp261Asn) c.733G>A (p.Asp245Asn) n.63C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147732del | CA2695203092 | GCK | c.*782del (n.*782del) c.784del (p.Asp262ThrfsTer25) c.787del (p.Asp263ThrfsTer?) c.784del (p.Asp262ThrfsTer?) c.781del (p.Asp261ThrfsTer?) c.733del (p.Asp245ThrfsTer?) n.66del | |
| 7 | g.44147730C>A | CA454608701 | GCK | c.*781G>T (n.*781G>T) c.783G>T (p.Gly261=) c.786G>T (p.Gly262=) c.780G>T (p.Gly260=) c.732G>T (p.Gly244=) n.64C>A | |
| 7 | g.44147730C= | CA1703634908 | GCK | c.*781G= (n.*781G=) c.783G= (p.Gly261=) c.786G= (p.Gly262=) c.780G= (p.Gly260=) c.732G= (p.Gly244=) n.64C= | |
| 7 | g.44147730C>G | CA454608702 | GCK | c.*781G>C (n.*781G>C) c.783G>C (p.Gly261=) c.786G>C (p.Gly262=) c.780G>C (p.Gly260=) c.732G>C (p.Gly244=) n.64C>G | |
| 7 | g.44147730C>T | CA4239524 | GCK | c.*781G>A (n.*781G>A) c.783G>A (p.Gly261=) c.786G>A (p.Gly262=) c.780G>A (p.Gly260=) c.732G>A (p.Gly244=) n.64C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147731C>A | CA367400567 | GCK | c.*780G>T (n.*780G>T) c.782G>T (p.Gly261Val) c.785G>T (p.Gly262Val) c.779G>T (p.Gly260Val) c.731G>T (p.Gly244Val) n.65C>A | |
| 7 | g.44147731C>G | CA367400568 | GCK | c.*780G>C (n.*780G>C) c.782G>C (p.Gly261Ala) c.785G>C (p.Gly262Ala) c.779G>C (p.Gly260Ala) c.731G>C (p.Gly244Ala) n.65C>G | |
| 7 | g.44147731C>T | CA367400569 | GCK | c.*780G>A (n.*780G>A) c.782G>A (p.Gly261Glu) c.785G>A (p.Gly262Glu) c.779G>A (p.Gly260Glu) c.731G>A (p.Gly244Glu) n.65C>T | ClinVar |
| 7 | g.44147732C>A | CA367400570 | GCK | c.*779G>T (n.*779G>T) c.781G>T (p.Gly261Trp) c.784G>T (p.Gly262Trp) c.778G>T (p.Gly260Trp) c.730G>T (p.Gly244Trp) n.66C>A | |
| 7 | g.44147732C= | CA1703634909 | GCK | c.*779G= (n.*779G=) c.781G= (p.Gly261=) c.784G= (p.Gly262=) c.778G= (p.Gly260=) c.730G= (p.Gly244=) n.66C= | |
| 7 | g.44147732C>G | CA367400571 | GCK | c.*779G>C (n.*779G>C) c.781G>C (p.Gly261Arg) c.784G>C (p.Gly262Arg) c.778G>C (p.Gly260Arg) c.730G>C (p.Gly244Arg) n.66C>G | ClinVar dbSNP |
| 7 | g.44147732C>T | CA126211 | GCK | c.*779G>A (n.*779G>A) c.781G>A (p.Gly261Arg) c.784G>A (p.Gly262Arg) c.778G>A (p.Gly260Arg) c.730G>A (p.Gly244Arg) n.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147733G>A | CA157915683 | GCK | c.*778C>T (n.*778C>T) c.780C>T (p.Phe260=) c.783C>T (p.Phe261=) c.777C>T (p.Phe259=) c.729C>T (p.Phe243=) n.67G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147733G>C | CA367400572 | GCK | c.*778C>G (n.*778C>G) c.780C>G (p.Phe260Leu) c.783C>G (p.Phe261Leu) c.777C>G (p.Phe259Leu) c.729C>G (p.Phe243Leu) n.67G>C | |
| 7 | g.44147733G= | CA1703634910 | GCK | c.*778C= (n.*778C=) c.780C= (p.Phe260=) c.783C= (p.Phe261=) c.777C= (p.Phe259=) c.729C= (p.Phe243=) n.67G= | |
| 7 | g.44147733G>T | CA367400573 | GCK | c.*778C>A (n.*778C>A) c.780C>A (p.Phe260Leu) c.783C>A (p.Phe261Leu) c.777C>A (p.Phe259Leu) c.729C>A (p.Phe243Leu) n.67G>T | |
| 7 | g.44147734A= | CA1703634911 | GCK | c.*777T= (n.*777T=) c.779T= (p.Phe260=) c.782T= (p.Phe261=) c.776T= (p.Phe259=) c.728T= (p.Phe243=) n.68A= |