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.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.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= | |
7 | g.44147734A>C | CA367400574 | GCK | c.*777T>G (n.*777T>G) c.779T>G (p.Phe260Cys) c.782T>G (p.Phe261Cys) c.776T>G (p.Phe259Cys) c.728T>G (p.Phe243Cys) n.68A>C | |
7 | g.44147734A>G | CA213852 | GCK | c.*777T>C (n.*777T>C) c.779T>C (p.Phe260Ser) c.782T>C (p.Phe261Ser) c.776T>C (p.Phe259Ser) c.728T>C (p.Phe243Ser) n.68A>G | ClinVar dbSNP |
7 | g.44147734A>T | CA367400575 | GCK | c.*777T>A (n.*777T>A) c.779T>A (p.Phe260Tyr) c.782T>A (p.Phe261Tyr) c.776T>A (p.Phe259Tyr) c.728T>A (p.Phe243Tyr) n.68A>T | |
7 | g.44147735del | CA2695203093 | GCK | c.*777del (n.*777del) c.779del (p.Phe260SerfsTer27) c.782del (p.Phe261SerfsTer?) c.779del (p.Phe260SerfsTer?) c.776del (p.Phe259SerfsTer?) c.728del (p.Phe243SerfsTer?) n.69del | |
7 | g.44147735_44147751dup | CA658655966 | GCK | c.*761_*777dup (n.*761_*777dup) c.763_779dup (p.Phe260LeufsTer33) c.766_782dup (p.Phe261LeufsTer?) c.763_779dup (p.Phe260LeufsTer?) c.760_776dup (p.Phe259LeufsTer?) c.712_728dup (p.Phe243LeufsTer?) n.69_82+3dup | ClinVar dbSNP |
7 | g.44147735A>C | CA367400576 | GCK | c.*776T>G (n.*776T>G) c.778T>G (p.Phe260Val) c.781T>G (p.Phe261Val) c.775T>G (p.Phe259Val) c.727T>G (p.Phe243Val) n.69A>C | |
7 | g.44147735A>G | CA367400578 | GCK | c.*776T>C (n.*776T>C) c.778T>C (p.Phe260Leu) c.781T>C (p.Phe261Leu) c.775T>C (p.Phe259Leu) c.727T>C (p.Phe243Leu) n.69A>G | |
7 | g.44147735A>T | CA367400577 | GCK | c.*776T>A (n.*776T>A) c.778T>A (p.Phe260Ile) c.781T>A (p.Phe261Ile) c.775T>A (p.Phe259Ile) c.727T>A (p.Phe243Ile) n.69A>T | |
7 | g.44147736G>A | CA454608706 | GCK | c.*775C>T (n.*775C>T) c.777C>T (p.Ala259=) c.780C>T (p.Ala260=) c.774C>T (p.Ala258=) c.726C>T (p.Ala242=) n.70G>A | |
7 | g.44147736G>C | CA454608708 | GCK | c.*775C>G (n.*775C>G) c.777C>G (p.Ala259=) c.780C>G (p.Ala260=) c.774C>G (p.Ala258=) c.726C>G (p.Ala242=) n.70G>C | |
7 | g.44147736G>T | CA454608707 | GCK | c.*775C>A (n.*775C>A) c.777C>A (p.Ala259=) c.780C>A (p.Ala260=) c.774C>A (p.Ala258=) c.726C>A (p.Ala242=) n.70G>T | |
7 | g.44147737_44147739del | CA2695203094 | GCK | c.*773_*775del (n.*773_*775del) c.775_777del (p.Ala259del) c.778_780del (p.Ala260del) c.772_774del (p.Ala258del) c.724_726del (p.Ala242del) n.71_73del | |
7 | g.44147737G>A | CA367400579 | GCK | c.*774C>T (n.*774C>T) c.776C>T (p.Ala259Val) c.779C>T (p.Ala260Val) c.773C>T (p.Ala258Val) c.725C>T (p.Ala242Val) n.71G>A | ClinVar dbSNP |
7 | g.44147737G>C | CA367400581 | GCK | c.*774C>G (n.*774C>G) c.776C>G (p.Ala259Gly) c.779C>G (p.Ala260Gly) c.773C>G (p.Ala258Gly) c.725C>G (p.Ala242Gly) n.71G>C | gnomAD v4 |
7 | g.44147737G= | CA1703634912 | GCK | c.*774C= (n.*774C=) c.776C= (p.Ala259=) c.779C= (p.Ala260=) c.773C= (p.Ala258=) c.725C= (p.Ala242=) n.71G= | |
7 | g.44147737G>T | CA367400580 | GCK | c.*774C>A (n.*774C>A) c.776C>A (p.Ala259Asp) c.779C>A (p.Ala260Asp) c.773C>A (p.Ala258Asp) c.725C>A (p.Ala242Asp) n.71G>T | ClinVar dbSNP |
7 | g.44147738C>A | CA367400582 | GCK | c.*773G>T (n.*773G>T) c.775G>T (p.Ala259Ser) c.778G>T (p.Ala260Ser) c.772G>T (p.Ala258Ser) c.724G>T (p.Ala242Ser) n.72C>A | ClinVar |
7 | g.44147738C= | CA1703634913 | GCK | c.*773G= (n.*773G=) c.775G= (p.Ala259=) c.778G= (p.Ala260=) c.772G= (p.Ala258=) c.724G= (p.Ala242=) n.72C= | |
7 | g.44147738C>G | CA367400583 | GCK | c.*773G>C (n.*773G>C) c.775G>C (p.Ala259Pro) c.778G>C (p.Ala260Pro) c.772G>C (p.Ala258Pro) c.724G>C (p.Ala242Pro) n.72C>G | |
7 | g.44147738C>T | CA367400584 | GCK | c.*773G>A (n.*773G>A) c.775G>A (p.Ala259Thr) c.778G>A (p.Ala260Thr) c.772G>A (p.Ala258Thr) c.724G>A (p.Ala242Thr) n.72C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44147739G>A | CA4239525 | GCK | c.*772C>T (n.*772C>T) c.774C>T (p.Gly258=) c.777C>T (p.Gly259=) c.771C>T (p.Gly257=) c.723C>T (p.Gly241=) n.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44147739G>C | CA454608716 | GCK | c.*772C>G (n.*772C>G) c.774C>G (p.Gly258=) c.777C>G (p.Gly259=) c.771C>G (p.Gly257=) c.723C>G (p.Gly241=) n.73G>C | |
7 | g.44147739G= | CA1703634914 | GCK | c.*772C= (n.*772C=) c.774C= (p.Gly258=) c.777C= (p.Gly259=) c.771C= (p.Gly257=) c.723C= (p.Gly241=) n.73G= | |
7 | g.44147739G>T | CA454608717 | GCK | c.*772C>A (n.*772C>A) c.774C>A (p.Gly258=) c.777C>A (p.Gly259=) c.771C>A (p.Gly257=) c.723C>A (p.Gly241=) n.73G>T | |
7 | g.44147740C>A | CA367400585 | GCK | c.*771G>T (n.*771G>T) c.773G>T (p.Gly258Val) c.776G>T (p.Gly259Val) c.770G>T (p.Gly257Val) c.722G>T (p.Gly241Val) n.74C>A | |
7 | g.44147740C= | CA1703634915 | GCK | c.*771G= (n.*771G=) c.773G= (p.Gly258=) c.776G= (p.Gly259=) c.770G= (p.Gly257=) c.722G= (p.Gly241=) n.74C= | |
7 | g.44147740C>G | CA367400586 | GCK | c.*771G>C (n.*771G>C) c.773G>C (p.Gly258Ala) c.776G>C (p.Gly259Ala) c.770G>C (p.Gly257Ala) c.722G>C (p.Gly241Ala) n.74C>G | |
7 | g.44147740C>T | CA4239526 | GCK | c.*771G>A (n.*771G>A) c.773G>A (p.Gly258Asp) c.776G>A (p.Gly259Asp) c.770G>A (p.Gly257Asp) c.722G>A (p.Gly241Asp) n.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44147743dup | CA2695203097 | GCK | c.*771dup (n.*771dup) c.773dup (p.Ala259ArgfsTer16) c.776dup (p.Ala260ArgfsTer16) c.770dup (p.Ala258ArgfsTer16) c.722dup (p.Ala242ArgfsTer16) n.77dup | |
7 | g.44147741C>A | CA367400587 | GCK | c.*770G>T (n.*770G>T) c.772G>T (p.Gly258Cys) c.775G>T (p.Gly259Cys) c.769G>T (p.Gly257Cys) c.721G>T (p.Gly241Cys) n.75C>A | ClinVar dbSNP |
7 | g.44147741C= | CA1703634916 | GCK | c.*770G= (n.*770G=) c.772G= (p.Gly258=) c.775G= (p.Gly259=) c.769G= (p.Gly257=) c.721G= (p.Gly241=) n.75C= | |
7 | g.44147741C>G | CA367400588 | GCK | c.*770G>C (n.*770G>C) c.772G>C (p.Gly258Arg) c.775G>C (p.Gly259Arg) c.769G>C (p.Gly257Arg) c.721G>C (p.Gly241Arg) n.75C>G | |
7 | g.44147741C>T | CA367400589 | GCK | c.*770G>A (n.*770G>A) c.772G>A (p.Gly258Ser) c.775G>A (p.Gly259Ser) c.769G>A (p.Gly257Ser) c.721G>A (p.Gly241Ser) n.75C>T | ClinVar dbSNP gnomAD v4 |
7 | g.44147742C>A | CA367400592 | GCK | c.*769G>T (n.*769G>T) c.771G>T (p.Trp257Cys) c.774G>T (p.Trp258Cys) c.768G>T (p.Trp256Cys) c.720G>T (p.Trp240Cys) n.76C>A | |
7 | g.44147742C>G | CA367400591 | GCK | c.*769G>C (n.*769G>C) c.771G>C (p.Trp257Cys) c.774G>C (p.Trp258Cys) c.768G>C (p.Trp256Cys) c.720G>C (p.Trp240Cys) n.76C>G | |
7 | g.44147742C>T | CA367400590 | GCK | c.*769G>A (n.*769G>A) c.771G>A (p.Trp257Ter) c.774G>A (p.Trp258Ter) c.768G>A (p.Trp256Ter) c.720G>A (p.Trp240Ter) n.76C>T | ClinVar dbSNP |