| 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.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 |
| 7 | g.44147743C>A | CA367400593 | GCK | c.*768G>T (n.*768G>T) c.770G>T (p.Trp257Leu) c.773G>T (p.Trp258Leu) c.767G>T (p.Trp256Leu) c.719G>T (p.Trp240Leu) n.77C>A | |
| 7 | g.44147743C= | CA1703634917 | GCK | c.*768G= (n.*768G=) c.770G= (p.Trp257=) c.773G= (p.Trp258=) c.767G= (p.Trp256=) c.719G= (p.Trp240=) n.77C= | |
| 7 | g.44147743C>G | CA367400594 | GCK | c.*768G>C (n.*768G>C) c.770G>C (p.Trp257Ser) c.773G>C (p.Trp258Ser) c.767G>C (p.Trp256Ser) c.719G>C (p.Trp240Ser) n.77C>G | ClinVar dbSNP |
| 7 | g.44147743C>T | CA367400595 | GCK | c.*768G>A (n.*768G>A) c.770G>A (p.Trp257Ter) c.773G>A (p.Trp258Ter) c.767G>A (p.Trp256Ter) c.719G>A (p.Trp240Ter) n.77C>T | ClinVar dbSNP |
| 7 | g.44147746_44147760del | CA2695203100 | GCK | c.*754_*768del (n.*754_*768del) c.756_770del (p.Cys252_Glu256del) c.759_773del (p.Cys253_Glu257del) c.753_767del (p.Cys251_Glu255del) c.705_719del (p.Cys235_Glu239del) n.80_82+12del | |
| 7 | g.44147744A= | CA1703634918 | GCK | c.*767T= (n.*767T=) c.769T= (p.Trp257=) c.772T= (p.Trp258=) c.766T= (p.Trp256=) c.718T= (p.Trp240=) n.78A= | |
| 7 | g.44147744A>C | CA367400596 | GCK | c.*767T>G (n.*767T>G) c.769T>G (p.Trp257Gly) c.772T>G (p.Trp258Gly) c.766T>G (p.Trp256Gly) c.718T>G (p.Trp240Gly) n.78A>C | |
| 7 | g.44147744A>G | CA367400597 | GCK | c.*767T>C (n.*767T>C) c.769T>C (p.Trp257Arg) c.772T>C (p.Trp258Arg) c.766T>C (p.Trp256Arg) c.718T>C (p.Trp240Arg) n.78A>G | ClinVar dbSNP |
| 7 | g.44147744A>T | CA367400598 | GCK | c.*767T>A (n.*767T>A) c.769T>A (p.Trp257Arg) c.772T>A (p.Trp258Arg) c.766T>A (p.Trp256Arg) c.718T>A (p.Trp240Arg) n.78A>T | |
| 7 | g.44147744dup | CA2695203102 | GCK | c.*767dup (n.*767dup) c.769dup (p.Trp257LeufsTer18) c.772dup (p.Trp258LeufsTer18) c.766dup (p.Trp256LeufsTer18) c.718dup (p.Trp240LeufsTer18) n.78dup | |
| 7 | g.44147745C>A | CA367400599 | GCK | c.*766G>T (n.*766G>T) c.768G>T (p.Glu256Asp) c.771G>T (p.Glu257Asp) c.765G>T (p.Glu255Asp) c.717G>T (p.Glu239Asp) n.79C>A | |
| 7 | g.44147745C= | CA1703634919 | GCK | c.*766G= (n.*766G=) c.768G= (p.Glu256=) c.771G= (p.Glu257=) c.765G= (p.Glu255=) c.717G= (p.Glu239=) n.79C= |