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.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= | |
| 7 | g.44147745C>G | CA213848 | GCK | c.*766G>C (n.*766G>C) c.768G>C (p.Glu256Asp) c.771G>C (p.Glu257Asp) c.765G>C (p.Glu255Asp) c.717G>C (p.Glu239Asp) n.79C>G | ClinVar dbSNP |
| 7 | g.44147745C>T | CA454608718 | GCK | c.*766G>A (n.*766G>A) c.768G>A (p.Glu256=) c.771G>A (p.Glu257=) c.765G>A (p.Glu255=) c.717G>A (p.Glu239=) n.79C>T | |
| 7 | g.44147746T>A | CA367400600 | GCK | c.*765A>T (n.*765A>T) c.767A>T (p.Glu256Val) c.770A>T (p.Glu257Val) c.764A>T (p.Glu255Val) c.716A>T (p.Glu239Val) n.80T>A | |
| 7 | g.44147746T>C | CA367400601 | GCK | c.*765A>G (n.*765A>G) c.767A>G (p.Glu256Gly) c.770A>G (p.Glu257Gly) c.764A>G (p.Glu255Gly) c.716A>G (p.Glu239Gly) n.80T>C | |
| 7 | g.44147746T>G | CA367400602 | GCK | c.*765A>C (n.*765A>C) c.767A>C (p.Glu256Ala) c.770A>C (p.Glu257Ala) c.764A>C (p.Glu255Ala) c.716A>C (p.Glu239Ala) n.80T>G | |
| 7 | g.44147747_44147750dup | CA2695203103 | GCK | c.*762_*765dup (n.*762_*765dup) c.764_767dup (p.Glu256AspfsTer20) c.767_770dup (p.Glu257AspfsTer20) c.761_764dup (p.Glu255AspfsTer20) c.713_716dup (p.Glu239AspfsTer20) n.81_82+2dup | |
| 7 | g.44147747C>A | CA367400603 | GCK | c.*764G>T (n.*764G>T) c.766G>T (p.Glu256Ter) c.769G>T (p.Glu257Ter) c.763G>T (p.Glu255Ter) c.715G>T (p.Glu239Ter) n.81C>A | ClinVar |
| 7 | g.44147747C= | CA1703634920 | GCK | c.*764G= (n.*764G=) c.766G= (p.Glu256=) c.769G= (p.Glu257=) c.763G= (p.Glu255=) c.715G= (p.Glu239=) n.81C= | |
| 7 | g.44147747C>G | CA16618468 | GCK | c.*764G>C (n.*764G>C) c.766G>C (p.Glu256Gln) c.769G>C (p.Glu257Gln) c.763G>C (p.Glu255Gln) c.715G>C (p.Glu239Gln) n.81C>G | ClinVar dbSNP |
| 7 | g.44147747C>T | CA4239527 | GCK | c.*764G>A (n.*764G>A) c.766G>A (p.Glu256Lys) c.769G>A (p.Glu257Lys) c.763G>A (p.Glu255Lys) c.715G>A (p.Glu239Lys) n.81C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147748G>A | CA4239528 | GCK | c.*763C>T (n.*763C>T) c.765C>T (p.Thr255=) c.768C>T (p.Thr256=) c.762C>T (p.Thr254=) c.714C>T (p.Thr238=) n.82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147748G>C | CA454608720 | GCK | c.*763C>G (n.*763C>G) c.765C>G (p.Thr255=) c.768C>G (p.Thr256=) c.762C>G (p.Thr254=) c.714C>G (p.Thr238=) n.82G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147748G= | CA1703634921 | GCK | c.*763C= (n.*763C=) c.765C= (p.Thr255=) c.768C= (p.Thr256=) c.762C= (p.Thr254=) c.714C= (p.Thr238=) n.82G= | |
| 7 | g.44147748G>T | CA454608721 | GCK | c.*763C>A (n.*763C>A) c.765C>A (p.Thr255=) c.768C>A (p.Thr256=) c.762C>A (p.Thr254=) c.714C>A (p.Thr238=) n.82G>T | |
| 7 | g.44147749G>A | CA367400604 | GCK | c.*762C>T (n.*762C>T) c.764C>T (p.Thr255Ile) c.767C>T (p.Thr256Ile) c.761C>T (p.Thr254Ile) c.713C>T (p.Thr238Ile) n.82+1G>A | |
| 7 | g.44147749G>C | CA367400605 | GCK | c.*762C>G (n.*762C>G) c.764C>G (p.Thr255Ser) c.767C>G (p.Thr256Ser) c.761C>G (p.Thr254Ser) c.713C>G (p.Thr238Ser) n.82+1G>C | |
| 7 | g.44147749G>T | CA367400606 | GCK | c.*762C>A (n.*762C>A) c.764C>A (p.Thr255Asn) c.767C>A (p.Thr256Asn) c.761C>A (p.Thr254Asn) c.713C>A (p.Thr238Asn) n.82+1G>T | |
| 7 | g.44147750T>A | CA367400607 | GCK | c.*761A>T (n.*761A>T) c.763A>T (p.Thr255Ser) c.766A>T (p.Thr256Ser) c.760A>T (p.Thr254Ser) c.712A>T (p.Thr238Ser) n.82+2T>A | |
| 7 | g.44147750T>C | CA367400608 | GCK | c.*761A>G (n.*761A>G) c.763A>G (p.Thr255Ala) c.766A>G (p.Thr256Ala) c.760A>G (p.Thr254Ala) c.712A>G (p.Thr238Ala) n.82+2T>C | ClinVar dbSNP |
| 7 | g.44147750T>G | CA367400609 | GCK | c.*761A>C (n.*761A>C) c.763A>C (p.Thr255Pro) c.766A>C (p.Thr256Pro) c.760A>C (p.Thr254Pro) c.712A>C (p.Thr238Pro) n.82+2T>G | |
| 7 | g.44147751A= | CA1703634922 | GCK | c.*760T= (n.*760T=) c.762T= (p.Asn254=) c.765T= (p.Asn255=) c.759T= (p.Asn253=) c.711T= (p.Asn237=) n.82+3A= | |
| 7 | g.44147751A>C | CA367400610 | GCK | c.*760T>G (n.*760T>G) c.762T>G (p.Asn254Lys) c.765T>G (p.Asn255Lys) c.759T>G (p.Asn253Lys) c.711T>G (p.Asn237Lys) n.82+3A>C | ClinVar dbSNP |
| 7 | g.44147751A>G | CA454608722 | GCK | c.*760T>C (n.*760T>C) c.762T>C (p.Asn254=) c.765T>C (p.Asn255=) c.759T>C (p.Asn253=) c.711T>C (p.Asn237=) n.82+3A>G | |
| 7 | g.44147751A>T | CA367400611 | GCK | c.*760T>A (n.*760T>A) c.762T>A (p.Asn254Lys) c.765T>A (p.Asn255Lys) c.759T>A (p.Asn253Lys) c.711T>A (p.Asn237Lys) n.82+3A>T | ClinVar dbSNP |
| 7 | g.44147752T>A | CA367400612 | GCK | c.*759A>T (n.*759A>T) c.761A>T (p.Asn254Ile) c.764A>T (p.Asn255Ile) c.758A>T (p.Asn253Ile) c.710A>T (p.Asn237Ile) n.82+4T>A | |
| 7 | g.44147752T>C | CA367400613 | GCK | c.*759A>G (n.*759A>G) c.761A>G (p.Asn254Ser) c.764A>G (p.Asn255Ser) c.758A>G (p.Asn253Ser) c.710A>G (p.Asn237Ser) n.82+4T>C | |
| 7 | g.44147752T>G | CA367400614 | GCK | c.*759A>C (n.*759A>C) c.761A>C (p.Asn254Thr) c.764A>C (p.Asn255Thr) c.758A>C (p.Asn253Thr) c.710A>C (p.Asn237Thr) n.82+4T>G | |
| 7 | g.44147753T>A | CA367400616 | GCK | c.*758A>T (n.*758A>T) c.760A>T (p.Asn254Tyr) c.763A>T (p.Asn255Tyr) c.757A>T (p.Asn253Tyr) c.709A>T (p.Asn237Tyr) n.82+5T>A | |
| 7 | g.44147753T>C | CA367400615 | GCK | c.*758A>G (n.*758A>G) c.760A>G (p.Asn254Asp) c.763A>G (p.Asn255Asp) c.757A>G (p.Asn253Asp) c.709A>G (p.Asn237Asp) n.82+5T>C | |
| 7 | g.44147753T>G | CA213846 | GCK | c.*758A>C (n.*758A>C) c.760A>C (p.Asn254His) c.763A>C (p.Asn255His) c.757A>C (p.Asn253His) c.709A>C (p.Asn237His) n.82+5T>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147753T= | CA1703634923 | GCK | c.*758A= (n.*758A=) c.760A= (p.Asn254=) c.763A= (p.Asn255=) c.757A= (p.Asn253=) c.709A= (p.Asn237=) n.82+5T= | |
| 7 | g.44147754G>A | CA454608723 | GCK | c.*757C>T (n.*757C>T) c.759C>T (p.Val253=) c.762C>T (p.Val254=) c.756C>T (p.Val252=) c.708C>T (p.Val236=) n.82+6G>A | dbSNP |
| 7 | g.44147754G>C | CA454608724 | GCK | c.*757C>G (n.*757C>G) c.759C>G (p.Val253=) c.762C>G (p.Val254=) c.756C>G (p.Val252=) c.708C>G (p.Val236=) n.82+6G>C | |
| 7 | g.44147754G= | CA1703634924 | GCK | c.*757C= (n.*757C=) c.759C= (p.Val253=) c.762C= (p.Val254=) c.756C= (p.Val252=) c.708C= (p.Val236=) n.82+6G= | |
| 7 | g.44147754G>T | CA454608725 | GCK | c.*757C>A (n.*757C>A) c.759C>A (p.Val253=) c.762C>A (p.Val254=) c.756C>A (p.Val252=) c.708C>A (p.Val236=) n.82+6G>T | |
| 7 | g.44147755A= | CA1703634925 | GCK | c.*756T= (n.*756T=) c.758T= (p.Val253=) c.761T= (p.Val254=) c.755T= (p.Val252=) c.707T= (p.Val236=) n.82+7A= | |
| 7 | g.44147755A>C | CA213844 | GCK | c.*756T>G (n.*756T>G) c.758T>G (p.Val253Gly) c.761T>G (p.Val254Gly) c.755T>G (p.Val252Gly) c.707T>G (p.Val236Gly) n.82+7A>C | ClinVar dbSNP |
| 7 | g.44147755A>G | CA213842 | GCK | c.*756T>C (n.*756T>C) c.758T>C (p.Val253Ala) c.761T>C (p.Val254Ala) c.755T>C (p.Val252Ala) c.707T>C (p.Val236Ala) n.82+7A>G | ClinVar dbSNP |
| 7 | g.44147755A>T | CA367400617 | GCK | c.*756T>A (n.*756T>A) c.758T>A (p.Val253Asp) c.761T>A (p.Val254Asp) c.755T>A (p.Val252Asp) c.707T>A (p.Val236Asp) n.82+7A>T | |
| 7 | g.44147756del | CA2695203108 | GCK | c.*755del (n.*755del) c.757del (p.Val253SerfsTer?) c.760del (p.Val254SerfsTer?) c.754del (p.Val252SerfsTer?) c.706del (p.Val236SerfsTer?) n.82+8del | |
| 7 | g.44147756C>A | CA367400618 | GCK | c.*755G>T (n.*755G>T) c.757G>T (p.Val253Phe) c.760G>T (p.Val254Phe) c.754G>T (p.Val252Phe) c.706G>T (p.Val236Phe) n.82+8C>A | ClinVar dbSNP |
| 7 | g.44147756C= | CA1703634926 | GCK | c.*755G= (n.*755G=) c.757G= (p.Val253=) c.760G= (p.Val254=) c.754G= (p.Val252=) c.706G= (p.Val236=) n.82+8C= | |
| 7 | g.44147756C>G | CA367400619 | GCK | c.*755G>C (n.*755G>C) c.757G>C (p.Val253Leu) c.760G>C (p.Val254Leu) c.754G>C (p.Val252Leu) c.706G>C (p.Val236Leu) n.82+8C>G | gnomAD v4 |
| 7 | g.44147756C>T | CA4239529 | GCK | c.*755G>A (n.*755G>A) c.757G>A (p.Val253Ile) c.760G>A (p.Val254Ile) c.754G>A (p.Val252Ile) c.706G>A (p.Val236Ile) n.82+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147757G>A | CA4239530 | GCK | c.*754C>T (n.*754C>T) c.756C>T (p.Cys252=) c.759C>T (p.Cys253=) c.753C>T (p.Cys251=) c.705C>T (p.Cys235=) n.82+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147757G>C | CA367400620 | GCK | c.*754C>G (n.*754C>G) c.756C>G (p.Cys252Trp) c.759C>G (p.Cys253Trp) c.753C>G (p.Cys251Trp) c.705C>G (p.Cys235Trp) n.82+9G>C | ClinVar |
| 7 | g.44147757G= | CA1703634927 | GCK | c.*754C= (n.*754C=) c.756C= (p.Cys252=) c.759C= (p.Cys253=) c.753C= (p.Cys251=) c.705C= (p.Cys235=) n.82+9G= | |
| 7 | g.44147757G>T | CA367400621 | GCK | c.*754C>A (n.*754C>A) c.756C>A (p.Cys252Ter) c.759C>A (p.Cys253Ter) c.753C>A (p.Cys251Ter) c.705C>A (p.Cys235Ter) n.82+9G>T | gnomAD v4 |
| 7 | g.44147758C>A | CA367400622 | GCK | c.*753G>T (n.*753G>T) c.755G>T (p.Cys252Phe) c.758G>T (p.Cys253Phe) c.752G>T (p.Cys251Phe) c.704G>T (p.Cys235Phe) n.82+10C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147758C= | CA1703634928 | GCK | c.*753G= (n.*753G=) c.755G= (p.Cys252=) c.758G= (p.Cys253=) c.752G= (p.Cys251=) c.704G= (p.Cys235=) n.82+10C= | |
| 7 | g.44147758C>G | CA367400623 | GCK | c.*753G>C (n.*753G>C) c.755G>C (p.Cys252Ser) c.758G>C (p.Cys253Ser) c.752G>C (p.Cys251Ser) c.704G>C (p.Cys235Ser) n.82+10C>G | |
| 7 | g.44147758C>T | CA367400624 | GCK | c.*753G>A (n.*753G>A) c.755G>A (p.Cys252Tyr) c.758G>A (p.Cys253Tyr) c.752G>A (p.Cys251Tyr) c.704G>A (p.Cys235Tyr) n.82+10C>T | gnomAD v4 |
| 7 | g.44147759A>C | CA367400627 | GCK | c.*752T>G (n.*752T>G) c.754T>G (p.Cys252Gly) c.757T>G (p.Cys253Gly) c.751T>G (p.Cys251Gly) c.703T>G (p.Cys235Gly) n.82+11A>C | |
| 7 | g.44147759A>G | CA367400626 | GCK | c.*752T>C (n.*752T>C) c.754T>C (p.Cys252Arg) c.757T>C (p.Cys253Arg) c.751T>C (p.Cys251Arg) c.703T>C (p.Cys235Arg) n.82+11A>G | |
| 7 | g.44147759A>T | CA367400625 | GCK | c.*752T>A (n.*752T>A) c.754T>A (p.Cys252Ser) c.757T>A (p.Cys253Ser) c.751T>A (p.Cys251Ser) c.703T>A (p.Cys235Ser) n.82+11A>T | |
| 7 | g.44147760C>A | CA367400628 | GCK | c.*751G>T (n.*751G>T) c.753G>T (p.Met251Ile) c.756G>T (p.Met252Ile) c.750G>T (p.Met250Ile) c.702G>T (p.Met234Ile) n.82+12C>A | |
| 7 | g.44147760C>G | CA367400630 | GCK | c.*751G>C (n.*751G>C) c.753G>C (p.Met251Ile) c.756G>C (p.Met252Ile) c.750G>C (p.Met250Ile) c.702G>C (p.Met234Ile) n.82+12C>G | |
| 7 | g.44147760C>T | CA367400629 | GCK | c.*751G>A (n.*751G>A) c.753G>A (p.Met251Ile) c.756G>A (p.Met252Ile) c.750G>A (p.Met250Ile) c.702G>A (p.Met234Ile) n.82+12C>T | ClinVar |
| 7 | g.44147761A= | CA1703634929 | GCK | c.*750T= (n.*750T=) c.752T= (p.Met251=) c.755T= (p.Met252=) c.749T= (p.Met250=) c.701T= (p.Met234=) n.82+13A= | |
| 7 | g.44147761A>C | CA367400631 | GCK | c.*750T>G (n.*750T>G) c.752T>G (p.Met251Arg) c.755T>G (p.Met252Arg) c.749T>G (p.Met250Arg) c.701T>G (p.Met234Arg) n.82+13A>C | |
| 7 | g.44147761A>G | CA213840 | GCK | c.*750T>C (n.*750T>C) c.752T>C (p.Met251Thr) c.755T>C (p.Met252Thr) c.749T>C (p.Met250Thr) c.701T>C (p.Met234Thr) n.82+13A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147761A>T | CA367400632 | GCK | c.*750T>A (n.*750T>A) c.752T>A (p.Met251Lys) c.755T>A (p.Met252Lys) c.749T>A (p.Met250Lys) c.701T>A (p.Met234Lys) n.82+13A>T | |
| 7 | g.44147762T>A | CA367400633 | GCK | c.*749A>T (n.*749A>T) c.751A>T (p.Met251Leu) c.754A>T (p.Met252Leu) c.748A>T (p.Met250Leu) c.700A>T (p.Met234Leu) n.82+14T>A | |
| 7 | g.44147762T>C | CA367400634 | GCK | c.*749A>G (n.*749A>G) c.751A>G (p.Met251Val) c.754A>G (p.Met252Val) c.748A>G (p.Met250Val) c.700A>G (p.Met234Val) n.82+14T>C | ClinVar dbSNP |
| 7 | g.44147762T>G | CA367400635 | GCK | c.*749A>C (n.*749A>C) c.751A>C (p.Met251Leu) c.754A>C (p.Met252Leu) c.748A>C (p.Met250Leu) c.700A>C (p.Met234Leu) n.82+14T>G | |
| 7 | g.44147763G>A | CA454608726 | GCK | c.*748C>T (n.*748C>T) c.750C>T (p.Arg250=) c.753C>T (p.Arg251=) c.747C>T (p.Arg249=) c.699C>T (p.Arg233=) n.82+15G>A | |
| 7 | g.44147763G>C | CA454608727 | GCK | c.*748C>G (n.*748C>G) c.750C>G (p.Arg250=) c.753C>G (p.Arg251=) c.747C>G (p.Arg249=) c.699C>G (p.Arg233=) n.82+15G>C | |
| 7 | g.44147763G>T | CA454608728 | GCK | c.*748C>A (n.*748C>A) c.750C>A (p.Arg250=) c.753C>A (p.Arg251=) c.747C>A (p.Arg249=) c.699C>A (p.Arg233=) n.82+15G>T | gnomAD v4 |
| 7 | g.44147764C>A | CA367400636 | GCK | c.*747G>T (n.*747G>T) c.749G>T (p.Arg250Leu) c.752G>T (p.Arg251Leu) c.746G>T (p.Arg249Leu) c.698G>T (p.Arg233Leu) n.82+16C>A | |
| 7 | g.44147764C= | CA1703634930 | GCK | c.*747G= (n.*747G=) c.749G= (p.Arg250=) c.752G= (p.Arg251=) c.746G= (p.Arg249=) c.698G= (p.Arg233=) n.82+16C= | |
| 7 | g.44147764C>G | CA367400637 | GCK | c.*747G>C (n.*747G>C) c.749G>C (p.Arg250Pro) c.752G>C (p.Arg251Pro) c.746G>C (p.Arg249Pro) c.698G>C (p.Arg233Pro) n.82+16C>G | ClinVar |
| 7 | g.44147764C>T | CA4239531 | GCK | c.*747G>A (n.*747G>A) c.749G>A (p.Arg250His) c.752G>A (p.Arg251His) c.746G>A (p.Arg249His) c.698G>A (p.Arg233His) n.82+16C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147765G>A | CA16609268 | GCK | c.*746C>T (n.*746C>T) c.748C>T (p.Arg250Cys) c.751C>T (p.Arg251Cys) c.745C>T (p.Arg249Cys) c.697C>T (p.Arg233Cys) n.82+17G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147765G>C | CA367400638 | GCK | c.*746C>G (n.*746C>G) c.748C>G (p.Arg250Gly) c.751C>G (p.Arg251Gly) c.745C>G (p.Arg249Gly) c.697C>G (p.Arg233Gly) n.82+17G>C | |
| 7 | g.44147765G= | CA1703634931 | GCK | c.*746C= (n.*746C=) c.748C= (p.Arg250=) c.751C= (p.Arg251=) c.745C= (p.Arg249=) c.697C= (p.Arg233=) n.82+17G= | |
| 7 | g.44147765G>T | CA367400639 | GCK | c.*746C>A (n.*746C>A) c.748C>A (p.Arg250Ser) c.751C>A (p.Arg251Ser) c.745C>A (p.Arg249Ser) c.697C>A (p.Arg233Ser) n.82+17G>T | |
| 7 | g.44147766G>A | CA454608729 | GCK | c.*745C>T (n.*745C>T) c.747C>T (p.Gly249=) c.750C>T (p.Gly250=) c.744C>T (p.Gly248=) c.696C>T (p.Gly232=) n.82+18G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147766G>C | CA454608731 | GCK | c.*745C>G (n.*745C>G) c.747C>G (p.Gly249=) c.750C>G (p.Gly250=) c.744C>G (p.Gly248=) c.696C>G (p.Gly232=) n.82+18G>C | |
| 7 | g.44147766G= | CA1703634932 | GCK | c.*745C= (n.*745C=) c.747C= (p.Gly249=) c.750C= (p.Gly250=) c.744C= (p.Gly248=) c.696C= (p.Gly232=) n.82+18G= | |
| 7 | g.44147766G>T | CA454608730 | GCK | c.*745C>A (n.*745C>A) c.747C>A (p.Gly249=) c.750C>A (p.Gly250=) c.744C>A (p.Gly248=) c.696C>A (p.Gly232=) n.82+18G>T | |
| 7 | g.44147767C>A | CA367400642 | GCK | c.*744G>T (n.*744G>T) c.746G>T (p.Gly249Val) c.749G>T (p.Gly250Val) c.743G>T (p.Gly248Val) c.695G>T (p.Gly232Val) n.82+19C>A | |
| 7 | g.44147767C>G | CA367400640 | GCK | c.*744G>C (n.*744G>C) c.746G>C (p.Gly249Ala) c.749G>C (p.Gly250Ala) c.743G>C (p.Gly248Ala) c.695G>C (p.Gly232Ala) n.82+19C>G | |
| 7 | g.44147767C>T | CA367400641 | GCK | c.*744G>A (n.*744G>A) c.746G>A (p.Gly249Asp) c.749G>A (p.Gly250Asp) c.743G>A (p.Gly248Asp) c.695G>A (p.Gly232Asp) n.82+19C>T | |
| 7 | g.44147768C>A | CA367400643 | GCK | c.*743G>T (n.*743G>T) c.745G>T (p.Gly249Cys) c.748G>T (p.Gly250Cys) c.742G>T (p.Gly248Cys) c.694G>T (p.Gly232Cys) n.82+20C>A | |
| 7 | g.44147768C= | CA1703634933 | GCK | c.*743G= (n.*743G=) c.745G= (p.Gly249=) c.748G= (p.Gly250=) c.742G= (p.Gly248=) c.694G= (p.Gly232=) n.82+20C= | |
| 7 | g.44147768C>G | CA367400644 | GCK | c.*743G>C (n.*743G>C) c.745G>C (p.Gly249Arg) c.748G>C (p.Gly250Arg) c.742G>C (p.Gly248Arg) c.694G>C (p.Gly232Arg) n.82+20C>G | dbSNP |
| 7 | g.44147768C>T | CA157915718 | GCK | c.*743G>A (n.*743G>A) c.745G>A (p.Gly249Ser) c.748G>A (p.Gly250Ser) c.742G>A (p.Gly248Ser) c.694G>A (p.Gly232Ser) n.82+20C>T | dbSNP |
| 7 | g.44147769C>A | CA367400645 | GCK | c.*742G>T (n.*742G>T) c.744G>T (p.Glu248Asp) c.747G>T (p.Glu249Asp) c.741G>T (p.Glu247Asp) c.693G>T (p.Glu231Asp) n.82+21C>A | |
| 7 | g.44147769C>G | CA367400646 | GCK | c.*742G>C (n.*742G>C) c.744G>C (p.Glu248Asp) c.747G>C (p.Glu249Asp) c.741G>C (p.Glu247Asp) c.693G>C (p.Glu231Asp) n.82+21C>G | |
| 7 | g.44147769C>T | CA454608732 | GCK | c.*742G>A (n.*742G>A) c.744G>A (p.Glu248=) c.747G>A (p.Glu249=) c.741G>A (p.Glu247=) c.693G>A (p.Glu231=) n.82+21C>T | |
| 7 | g.44147770del | CA2739289491 | GCK | c.*741del (n.*741del) c.743del (p.Glu248GlyfsTer?) c.746del (p.Glu249GlyfsTer?) c.740del (p.Glu247GlyfsTer?) c.692del (p.Glu231GlyfsTer?) n.82+22del | |
| 7 | g.44147770T>A | CA367400647 | GCK | c.*741A>T (n.*741A>T) c.743A>T (p.Glu248Val) c.746A>T (p.Glu249Val) c.740A>T (p.Glu247Val) c.692A>T (p.Glu231Val) n.82+22T>A | |
| 7 | g.44147770T>C | CA367400648 | GCK | c.*741A>G (n.*741A>G) c.743A>G (p.Glu248Gly) c.746A>G (p.Glu249Gly) c.740A>G (p.Glu247Gly) c.692A>G (p.Glu231Gly) n.82+22T>C | |
| 7 | g.44147770T>G | CA367400649 | GCK | c.*741A>C (n.*741A>C) c.743A>C (p.Glu248Ala) c.746A>C (p.Glu249Ala) c.740A>C (p.Glu247Ala) c.692A>C (p.Glu231Ala) n.82+22T>G | |
| 7 | g.44147771C>A | CA367400650 | GCK | c.*740G>T (n.*740G>T) c.742G>T (p.Glu248Ter) c.745G>T (p.Glu249Ter) c.739G>T (p.Glu247Ter) c.691G>T (p.Glu231Ter) n.82+23C>A | dbSNP |
| 7 | g.44147771C= | CA1703634934 | GCK | c.*740G= (n.*740G=) c.742G= (p.Glu248=) c.745G= (p.Glu249=) c.739G= (p.Glu247=) c.691G= (p.Glu231=) n.82+23C= | |
| 7 | g.44147771C>G | CA367400651 | GCK | c.*740G>C (n.*740G>C) c.742G>C (p.Glu248Gln) c.745G>C (p.Glu249Gln) c.739G>C (p.Glu247Gln) c.691G>C (p.Glu231Gln) n.82+23C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147771C>T | CA4239532 | GCK | c.*740G>A (n.*740G>A) c.742G>A (p.Glu248Lys) c.745G>A (p.Glu249Lys) c.739G>A (p.Glu247Lys) c.691G>A (p.Glu231Lys) n.82+23C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147772G>A | CA4239533 | GCK | c.*739C>T (n.*739C>T) c.741C>T (p.Asp247=) c.744C>T (p.Asp248=) c.738C>T (p.Asp246=) c.690C>T (p.Asp230=) n.82+24G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147772G>C | CA367400653 | GCK | c.*739C>G (n.*739C>G) c.741C>G (p.Asp247Glu) c.744C>G (p.Asp248Glu) c.738C>G (p.Asp246Glu) c.690C>G (p.Asp230Glu) n.82+24G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147772G= | CA1703634935 | GCK | c.*739C= (n.*739C=) c.741C= (p.Asp247=) c.744C= (p.Asp248=) c.738C= (p.Asp246=) c.690C= (p.Asp230=) n.82+24G= | |
| 7 | g.44147772G>T | CA367400652 | GCK | c.*739C>A (n.*739C>A) c.741C>A (p.Asp247Glu) c.744C>A (p.Asp248Glu) c.738C>A (p.Asp246Glu) c.690C>A (p.Asp230Glu) n.82+24G>T | |
| 7 | g.44147773T>A | CA367400654 | GCK | c.*738A>T (n.*738A>T) c.740A>T (p.Asp247Val) c.743A>T (p.Asp248Val) c.737A>T (p.Asp246Val) c.689A>T (p.Asp230Val) n.82+25T>A | |
| 7 | g.44147773T>C | CA367400655 | GCK | c.*738A>G (n.*738A>G) c.740A>G (p.Asp247Gly) c.743A>G (p.Asp248Gly) c.737A>G (p.Asp246Gly) c.689A>G (p.Asp230Gly) n.82+25T>C | |
| 7 | g.44147773T>G | CA367400656 | GCK | c.*738A>C (n.*738A>C) c.740A>C (p.Asp247Ala) c.743A>C (p.Asp248Ala) c.737A>C (p.Asp246Ala) c.689A>C (p.Asp230Ala) n.82+25T>G | |
| 7 | g.44147774C>A | CA367400657 | GCK | c.*737G>T (n.*737G>T) c.739G>T (p.Asp247Tyr) c.742G>T (p.Asp248Tyr) c.736G>T (p.Asp246Tyr) c.688G>T (p.Asp230Tyr) n.82+26C>A | |
| 7 | g.44147774C>G | CA367400658 | GCK | c.*737G>C (n.*737G>C) c.739G>C (p.Asp247His) c.742G>C (p.Asp248His) c.736G>C (p.Asp246His) c.688G>C (p.Asp230His) n.82+26C>G | |
| 7 | g.44147774C>T | CA367400659 | GCK | c.*737G>A (n.*737G>A) c.739G>A (p.Asp247Asn) c.742G>A (p.Asp248Asn) c.736G>A (p.Asp246Asn) c.688G>A (p.Asp230Asn) n.82+26C>T | |
| 7 | g.44147778dup | CA2695203112 | GCK | c.*737dup (n.*737dup) c.739dup (p.Asp247GlyfsTer28) c.742dup (p.Asp248GlyfsTer28) c.736dup (p.Asp246GlyfsTer28) c.688dup (p.Asp230GlyfsTer28) n.82+30dup | |
| 7 | g.44147778del | CA2695203113 | GCK | c.*737del (n.*737del) c.739del (p.Asp247ThrfsTer?) c.742del (p.Asp248ThrfsTer?) c.736del (p.Asp246ThrfsTer?) c.688del (p.Asp230ThrfsTer?) n.82+30del | |
| 7 | g.44147775C>A | CA454608733 | GCK | c.*736G>T (n.*736G>T) c.738G>T (p.Gly246=) c.741G>T (p.Gly247=) c.735G>T (p.Gly245=) c.687G>T (p.Gly229=) n.82+27C>A | |
| 7 | g.44147775C>G | CA454608734 | GCK | c.*736G>C (n.*736G>C) c.738G>C (p.Gly246=) c.741G>C (p.Gly247=) c.735G>C (p.Gly245=) c.687G>C (p.Gly229=) n.82+27C>G | |
| 7 | g.44147775C>T | CA454608735 | GCK | c.*736G>A (n.*736G>A) c.738G>A (p.Gly246=) c.741G>A (p.Gly247=) c.735G>A (p.Gly245=) c.687G>A (p.Gly229=) n.82+27C>T | gnomAD v4 |
| 7 | g.44147776C>A | CA367400660 | GCK | c.*735G>T (n.*735G>T) c.737G>T (p.Gly246Val) c.740G>T (p.Gly247Val) c.734G>T (p.Gly245Val) c.686G>T (p.Gly229Val) n.82+28C>A | |
| 7 | g.44147776C= | CA1703634936 | GCK | c.*735G= (n.*735G=) c.737G= (p.Gly246=) c.740G= (p.Gly247=) c.734G= (p.Gly245=) c.686G= (p.Gly229=) n.82+28C= | |
| 7 | g.44147776C>G | CA367400661 | GCK | c.*735G>C (n.*735G>C) c.737G>C (p.Gly246Ala) c.740G>C (p.Gly247Ala) c.734G>C (p.Gly245Ala) c.686G>C (p.Gly229Ala) n.82+28C>G | ClinVar dbSNP |
| 7 | g.44147776C>T | CA367400662 | GCK | c.*735G>A (n.*735G>A) c.737G>A (p.Gly246Glu) c.740G>A (p.Gly247Glu) c.734G>A (p.Gly245Glu) c.686G>A (p.Gly229Glu) n.82+28C>T | ClinVar dbSNP |
| 7 | g.44147777C>A | CA367400663 | GCK | c.*734G>T (n.*734G>T) c.736G>T (p.Gly246Trp) c.739G>T (p.Gly247Trp) c.733G>T (p.Gly245Trp) c.685G>T (p.Gly229Trp) n.82+29C>A | |
| 7 | g.44147777C= | CA1703634937 | GCK | c.*734G= (n.*734G=) c.736G= (p.Gly246=) c.739G= (p.Gly247=) c.733G= (p.Gly245=) c.685G= (p.Gly229=) n.82+29C= | |
| 7 | g.44147777C>G | CA367400664 | GCK | c.*734G>C (n.*734G>C) c.736G>C (p.Gly246Arg) c.739G>C (p.Gly247Arg) c.733G>C (p.Gly245Arg) c.685G>C (p.Gly229Arg) n.82+29C>G | |
| 7 | g.44147777C>T | CA367400665 | GCK | c.*734G>A (n.*734G>A) c.736G>A (p.Gly246Arg) c.739G>A (p.Gly247Arg) c.733G>A (p.Gly245Arg) c.685G>A (p.Gly229Arg) n.82+29C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147778C>A | CA367400667 | GCK | c.*733G>T (n.*733G>T) c.735G>T (p.Glu245Asp) c.738G>T (p.Glu246Asp) c.732G>T (p.Glu244Asp) c.684G>T (p.Glu228Asp) n.82+30C>A | |
| 7 | g.44147778C= | CA1703634938 | GCK | c.*733G= (n.*733G=) c.735G= (p.Glu245=) c.738G= (p.Glu246=) c.732G= (p.Glu244=) c.684G= (p.Glu228=) n.82+30C= | |
| 7 | g.44147778C>G | CA367400666 | GCK | c.*733G>C (n.*733G>C) c.735G>C (p.Glu245Asp) c.738G>C (p.Glu246Asp) c.732G>C (p.Glu244Asp) c.684G>C (p.Glu228Asp) n.82+30C>G | |
| 7 | g.44147778C>T | CA205508 | GCK | c.*733G>A (n.*733G>A) c.735G>A (p.Glu245=) c.738G>A (p.Glu246=) c.732G>A (p.Glu244=) c.684G>A (p.Glu228=) n.82+30C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147779T>A | CA367400668 | GCK | c.*732A>T (n.*732A>T) c.734A>T (p.Glu245Val) c.737A>T (p.Glu246Val) c.731A>T (p.Glu244Val) c.683A>T (p.Glu228Val) n.82+31T>A | |
| 7 | g.44147779T>C | CA367400669 | GCK | c.*732A>G (n.*732A>G) c.734A>G (p.Glu245Gly) c.737A>G (p.Glu246Gly) c.731A>G (p.Glu244Gly) c.683A>G (p.Glu228Gly) n.82+31T>C | ClinVar dbSNP |
| 7 | g.44147779T>G | CA367400670 | GCK | c.*732A>C (n.*732A>C) c.734A>C (p.Glu245Ala) c.737A>C (p.Glu246Ala) c.731A>C (p.Glu244Ala) c.683A>C (p.Glu228Ala) n.82+31T>G | |
| 7 | g.44147779T= | CA1703634939 | GCK | c.*732A= (n.*732A=) c.734A= (p.Glu245=) c.737A= (p.Glu246=) c.731A= (p.Glu244=) c.683A= (p.Glu228=) n.82+31T= | |
| 7 | g.44147780C>A | CA367400671 | GCK | c.*731G>T (n.*731G>T) c.733G>T (p.Glu245Ter) c.736G>T (p.Glu246Ter) c.730G>T (p.Glu244Ter) c.682G>T (p.Glu228Ter) n.82+32C>A | |
| 7 | g.44147780C>G | CA367400672 | GCK | c.*731G>C (n.*731G>C) c.733G>C (p.Glu245Gln) c.736G>C (p.Glu246Gln) c.730G>C (p.Glu244Gln) c.682G>C (p.Glu228Gln) n.82+32C>G | |
| 7 | g.44147780C>T | CA367400673 | GCK | c.*731G>A (n.*731G>A) c.733G>A (p.Glu245Lys) c.736G>A (p.Glu246Lys) c.730G>A (p.Glu244Lys) c.682G>A (p.Glu228Lys) n.82+32C>T | COSMIC COSMIC COSMIC |
| 7 | g.44147781del | CA2695203114 | GCK | c.*731del (n.*731del) c.733del (p.Glu245ArgfsTer?) c.736del (p.Glu246ArgfsTer?) c.730del (p.Glu244ArgfsTer?) c.682del (p.Glu228ArgfsTer?) n.82+33del | |
| 7 | g.44147781C>A | CA454608736 | GCK | c.*730G>T (n.*730G>T) c.732G>T (p.Val244=) c.735G>T (p.Val245=) c.729G>T (p.Val243=) c.681G>T (p.Val227=) n.82+33C>A | |
| 7 | g.44147781C>G | CA454608737 | GCK | c.*730G>C (n.*730G>C) c.732G>C (p.Val244=) c.735G>C (p.Val245=) c.729G>C (p.Val243=) c.681G>C (p.Val227=) n.82+33C>G | |
| 7 | g.44147781C>T | CA454608738 | GCK | c.*730G>A (n.*730G>A) c.732G>A (p.Val244=) c.735G>A (p.Val245=) c.729G>A (p.Val243=) c.681G>A (p.Val227=) n.82+33C>T | gnomAD v4 |
| 7 | g.44147782del | CA2695203115 | GCK | c.*729del (n.*729del) c.731del (p.Val244GlyfsTer?) c.734del (p.Val245GlyfsTer?) c.728del (p.Val243GlyfsTer?) c.680del (p.Val227GlyfsTer?) n.82+34del | |
| 7 | g.44147782A>C | CA367400674 | GCK | c.*729T>G (n.*729T>G) c.731T>G (p.Val244Gly) c.734T>G (p.Val245Gly) c.728T>G (p.Val243Gly) c.680T>G (p.Val227Gly) n.82+34A>C | ClinVar |
| 7 | g.44147782A>G | CA367400675 | GCK | c.*729T>C (n.*729T>C) c.731T>C (p.Val244Ala) c.734T>C (p.Val245Ala) c.728T>C (p.Val243Ala) c.680T>C (p.Val227Ala) n.82+34A>G | |
| 7 | g.44147782A>T | CA367400676 | GCK | c.*729T>A (n.*729T>A) c.731T>A (p.Val244Glu) c.734T>A (p.Val245Glu) c.728T>A (p.Val243Glu) c.680T>A (p.Val227Glu) n.82+34A>T | ClinVar |
| 7 | g.44147783C>A | CA367400677 | GCK | c.*728G>T (n.*728G>T) c.730G>T (p.Val244Leu) c.733G>T (p.Val245Leu) c.727G>T (p.Val243Leu) c.679G>T (p.Val227Leu) n.82+35C>A | |
| 7 | g.44147783C= | CA1703634940 | GCK | c.*728G= (n.*728G=) c.730G= (p.Val244=) c.733G= (p.Val245=) c.727G= (p.Val243=) c.679G= (p.Val227=) n.82+35C= | |
| 7 | g.44147783C>G | CA367400678 | GCK | c.*728G>C (n.*728G>C) c.730G>C (p.Val244Leu) c.733G>C (p.Val245Leu) c.727G>C (p.Val243Leu) c.679G>C (p.Val227Leu) n.82+35C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147783C>T | CA367400679 | GCK | c.*728G>A (n.*728G>A) c.730G>A (p.Val244Met) c.733G>A (p.Val245Met) c.727G>A (p.Val243Met) c.679G>A (p.Val227Met) n.82+35C>T | ClinVar dbSNP |
| 7 | g.44147784del | CA2695203116 | GCK | c.*728del (n.*728del) c.730del (p.Val244TrpfsTer?) c.733del (p.Val245TrpfsTer?) c.727del (p.Val243TrpfsTer?) c.679del (p.Val227TrpfsTer?) n.82+36del | |
| 7 | g.44147784C>A | CA454608739 | GCK | c.*727G>T (n.*727G>T) c.729G>T (p.Leu243=) c.732G>T (p.Leu244=) c.726G>T (p.Leu242=) c.678G>T (p.Leu226=) n.82+36C>A | |
| 7 | g.44147784C>G | CA454608740 | GCK | c.*727G>C (n.*727G>C) c.729G>C (p.Leu243=) c.732G>C (p.Leu244=) c.726G>C (p.Leu242=) c.678G>C (p.Leu226=) n.82+36C>G | |
| 7 | g.44147784C>T | CA454608741 | GCK | c.*727G>A (n.*727G>A) c.729G>A (p.Leu243=) c.732G>A (p.Leu244=) c.726G>A (p.Leu242=) c.678G>A (p.Leu226=) n.82+36C>T | |
| 7 | g.44147785A= | CA1703634941 | GCK | c.*726T= (n.*726T=) c.728T= (p.Leu243=) c.731T= (p.Leu244=) c.725T= (p.Leu242=) c.677T= (p.Leu226=) n.82+37A= | |
| 7 | g.44147785A>C | CA367400682 | GCK | c.*726T>G (n.*726T>G) c.728T>G (p.Leu243Arg) c.731T>G (p.Leu244Arg) c.725T>G (p.Leu242Arg) c.677T>G (p.Leu226Arg) n.82+37A>C | |
| 7 | g.44147785A>G | CA367400681 | GCK | c.*726T>C (n.*726T>C) c.728T>C (p.Leu243Pro) c.731T>C (p.Leu244Pro) c.725T>C (p.Leu242Pro) c.677T>C (p.Leu226Pro) n.82+37A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147785A>T | CA367400680 | GCK | c.*726T>A (n.*726T>A) c.728T>A (p.Leu243Gln) c.731T>A (p.Leu244Gln) c.725T>A (p.Leu242Gln) c.677T>A (p.Leu226Gln) n.82+37A>T | |
| 7 | g.44147786G>A | CA454608742 | GCK | c.*725C>T (n.*725C>T) c.727C>T (p.Leu243=) c.730C>T (p.Leu244=) c.724C>T (p.Leu242=) c.676C>T (p.Leu226=) n.82+38G>A | |
| 7 | g.44147786G>C | CA367400683 | GCK | c.*725C>G (n.*725C>G) c.727C>G (p.Leu243Val) c.730C>G (p.Leu244Val) c.724C>G (p.Leu242Val) c.676C>G (p.Leu226Val) n.82+38G>C | |
| 7 | g.44147786G>T | CA367400684 | GCK | c.*725C>A (n.*725C>A) c.727C>A (p.Leu243Met) c.730C>A (p.Leu244Met) c.724C>A (p.Leu242Met) c.676C>A (p.Leu226Met) n.82+38G>T | |
| 7 | g.44147787C>A | CA367400685 | GCK | c.*724G>T (n.*724G>T) c.726G>T (p.Glu242Asp) c.729G>T (p.Glu243Asp) c.723G>T (p.Glu241Asp) c.675G>T (p.Glu225Asp) n.82+39C>A | |
| 7 | g.44147787C= | CA1703634942 | GCK | c.*724G= (n.*724G=) c.726G= (p.Glu242=) c.729G= (p.Glu243=) c.723G= (p.Glu241=) c.675G= (p.Glu225=) n.82+39C= | |
| 7 | g.44147787C>G | CA367400686 | GCK | c.*724G>C (n.*724G>C) c.726G>C (p.Glu242Asp) c.729G>C (p.Glu243Asp) c.723G>C (p.Glu241Asp) c.675G>C (p.Glu225Asp) n.82+39C>G | |
| 7 | g.44147787C>T | CA4239534 | GCK | c.*724G>A (n.*724G>A) c.726G>A (p.Glu242=) c.729G>A (p.Glu243=) c.723G>A (p.Glu241=) c.675G>A (p.Glu225=) n.82+39C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.44147791_44147805del | CA2695203117 | GCK | c.*710_*724del (n.*710_*724del) c.712_726del (p.Met238_Glu242del) c.715_729del (p.Met239_Glu243del) c.709_723del (p.Met237_Glu241del) c.661_675del (p.Met221_Glu225del) n.82+43_82+57del | |
| 7 | g.44147788T>A | CA367400687 | GCK | c.*723A>T (n.*723A>T) c.725A>T (p.Glu242Val) c.728A>T (p.Glu243Val) c.722A>T (p.Glu241Val) c.674A>T (p.Glu225Val) n.82+40T>A | |
| 7 | g.44147788T>C | CA367400688 | GCK | c.*723A>G (n.*723A>G) c.725A>G (p.Glu242Gly) c.728A>G (p.Glu243Gly) c.722A>G (p.Glu241Gly) c.674A>G (p.Glu225Gly) n.82+40T>C | |
| 7 | g.44147788T>G | CA367400689 | GCK | c.*723A>C (n.*723A>C) c.725A>C (p.Glu242Ala) c.728A>C (p.Glu243Ala) c.722A>C (p.Glu241Ala) c.674A>C (p.Glu225Ala) n.82+40T>G | |
| 7 | g.44147789C>A | CA367400690 | GCK | c.*722G>T (n.*722G>T) c.724G>T (p.Glu242Ter) c.727G>T (p.Glu243Ter) c.721G>T (p.Glu241Ter) c.673G>T (p.Glu225Ter) n.82+41C>A | |
| 7 | g.44147789C>G | CA367400691 | GCK | c.*722G>C (n.*722G>C) c.724G>C (p.Glu242Gln) c.727G>C (p.Glu243Gln) c.721G>C (p.Glu241Gln) c.673G>C (p.Glu225Gln) n.82+41C>G | |
| 7 | g.44147789C>T | CA367400692 | GCK | c.*722G>A (n.*722G>A) c.724G>A (p.Glu242Lys) c.727G>A (p.Glu243Lys) c.721G>A (p.Glu241Lys) c.673G>A (p.Glu225Lys) n.82+41C>T | |
| 7 | g.44147790C>A | CA454608744 | GCK | c.*721G>T (n.*721G>T) c.723G>T (p.Val241=) c.726G>T (p.Val242=) c.720G>T (p.Val240=) c.672G>T (p.Val224=) n.82+42C>A | |
| 7 | g.44147790C= | CA1703634943 | GCK | c.*721G= (n.*721G=) c.723G= (p.Val241=) c.726G= (p.Val242=) c.720G= (p.Val240=) c.672G= (p.Val224=) n.82+42C= | |
| 7 | g.44147790C>G | CA454608743 | GCK | c.*721G>C (n.*721G>C) c.723G>C (p.Val241=) c.726G>C (p.Val242=) c.720G>C (p.Val240=) c.672G>C (p.Val224=) n.82+42C>G | |
| 7 | g.44147790C>T | CA213836 | GCK | c.*721G>A (n.*721G>A) c.723G>A (p.Val241=) c.726G>A (p.Val242=) c.720G>A (p.Val240=) c.672G>A (p.Val224=) n.82+42C>T | ClinVar dbSNP |
| 7 | g.44147791A>C | CA367400693 | GCK | c.*720T>G (n.*720T>G) c.722T>G (p.Val241Gly) c.725T>G (p.Val242Gly) c.719T>G (p.Val240Gly) c.671T>G (p.Val224Gly) n.82+43A>C | |
| 7 | g.44147791A>G | CA367400694 | GCK | c.*720T>C (n.*720T>C) c.722T>C (p.Val241Ala) c.725T>C (p.Val242Ala) c.719T>C (p.Val240Ala) c.671T>C (p.Val224Ala) n.82+43A>G | |
| 7 | g.44147791A>T | CA367400695 | GCK | c.*720T>A (n.*720T>A) c.722T>A (p.Val241Glu) c.725T>A (p.Val242Glu) c.719T>A (p.Val240Glu) c.671T>A (p.Val224Glu) n.82+43A>T | |
| 7 | g.44147792C>A | CA367400698 | GCK | c.*719G>T (n.*719G>T) c.721G>T (p.Val241Leu) c.724G>T (p.Val242Leu) c.718G>T (p.Val240Leu) c.670G>T (p.Val224Leu) n.82+44C>A | |
| 7 | g.44147792C>G | CA367400697 | GCK | c.*719G>C (n.*719G>C) c.721G>C (p.Val241Leu) c.724G>C (p.Val242Leu) c.718G>C (p.Val240Leu) c.670G>C (p.Val224Leu) n.82+44C>G | |
| 7 | g.44147792C>T | CA367400696 | GCK | c.*719G>A (n.*719G>A) c.721G>A (p.Val241Met) c.724G>A (p.Val242Met) c.718G>A (p.Val240Met) c.670G>A (p.Val224Met) n.82+44C>T | |
| 7 | g.44147793A= | CA1703634944 | GCK | c.*718T= (n.*718T=) c.720T= (p.Asn240=) c.723T= (p.Asn241=) c.717T= (p.Asn239=) c.669T= (p.Asn223=) n.82+45A= | |
| 7 | g.44147793A>C | CA367400699 | GCK | c.*718T>G (n.*718T>G) c.720T>G (p.Asn240Lys) c.723T>G (p.Asn241Lys) c.717T>G (p.Asn239Lys) c.669T>G (p.Asn223Lys) n.82+45A>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147793A>G | CA454608745 | GCK | c.*718T>C (n.*718T>C) c.720T>C (p.Asn240=) c.723T>C (p.Asn241=) c.717T>C (p.Asn239=) c.669T>C (p.Asn223=) n.82+45A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147793A>T | CA367400700 | GCK | c.*718T>A (n.*718T>A) c.720T>A (p.Asn240Lys) c.723T>A (p.Asn241Lys) c.717T>A (p.Asn239Lys) c.669T>A (p.Asn223Lys) n.82+45A>T | |
| 7 | g.44147794T>A | CA367400701 | GCK | c.*717A>T (n.*717A>T) c.719A>T (p.Asn240Ile) c.722A>T (p.Asn241Ile) c.716A>T (p.Asn239Ile) c.668A>T (p.Asn223Ile) n.82+46T>A | |
| 7 | g.44147794T>C | CA367400702 | GCK | c.*717A>G (n.*717A>G) c.719A>G (p.Asn240Ser) c.722A>G (p.Asn241Ser) c.716A>G (p.Asn239Ser) c.668A>G (p.Asn223Ser) n.82+46T>C | |
| 7 | g.44147794T>G | CA367400703 | GCK | c.*717A>C (n.*717A>C) c.719A>C (p.Asn240Thr) c.722A>C (p.Asn241Thr) c.716A>C (p.Asn239Thr) c.668A>C (p.Asn223Thr) n.82+46T>G | ClinVar |
| 7 | g.44147795T>A | CA367400704 | GCK | c.*716A>T (n.*716A>T) c.718A>T (p.Asn240Tyr) c.721A>T (p.Asn241Tyr) c.715A>T (p.Asn239Tyr) c.667A>T (p.Asn223Tyr) n.82+47T>A | |
| 7 | g.44147795T>C | CA367400705 | GCK | c.*716A>G (n.*716A>G) c.718A>G (p.Asn240Asp) c.721A>G (p.Asn241Asp) c.715A>G (p.Asn239Asp) c.667A>G (p.Asn223Asp) n.82+47T>C | ClinVar dbSNP |
| 7 | g.44147795T>G | CA367400706 | GCK | c.*716A>C (n.*716A>C) c.718A>C (p.Asn240His) c.721A>C (p.Asn241His) c.715A>C (p.Asn239His) c.667A>C (p.Asn223His) n.82+47T>G | |
| 7 | g.44147795T= | CA1703634945 | GCK | c.*716A= (n.*716A=) c.718A= (p.Asn240=) c.721A= (p.Asn241=) c.715A= (p.Asn239=) c.667A= (p.Asn223=) n.82+47T= | |
| 7 | g.44147796C>A | CA367400707 | GCK | c.*715G>T (n.*715G>T) c.717G>T (p.Gln239His) c.720G>T (p.Gln240His) c.714G>T (p.Gln238His) c.666G>T (p.Gln222His) n.82+48C>A | |
| 7 | g.44147796C>G | CA367400708 | GCK | c.*715G>C (n.*715G>C) c.717G>C (p.Gln239His) c.720G>C (p.Gln240His) c.714G>C (p.Gln238His) c.666G>C (p.Gln222His) n.82+48C>G | ClinVar dbSNP |
| 7 | g.44147796C>T | CA454608746 | GCK | c.*715G>A (n.*715G>A) c.717G>A (p.Gln239=) c.720G>A (p.Gln240=) c.714G>A (p.Gln238=) c.666G>A (p.Gln222=) n.82+48C>T | |
| 7 | g.44147797T>A | CA367400709 | GCK | c.*714A>T (n.*714A>T) c.716A>T (p.Gln239Leu) c.719A>T (p.Gln240Leu) c.713A>T (p.Gln238Leu) c.665A>T (p.Gln222Leu) n.82+49T>A | |
| 7 | g.44147797T>C | CA4239535 | GCK | c.*714A>G (n.*714A>G) c.716A>G (p.Gln239Arg) c.719A>G (p.Gln240Arg) c.713A>G (p.Gln238Arg) c.665A>G (p.Gln222Arg) n.82+49T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147797T>G | CA367400710 | GCK | c.*714A>C (n.*714A>C) c.716A>C (p.Gln239Pro) c.719A>C (p.Gln240Pro) c.713A>C (p.Gln238Pro) c.665A>C (p.Gln222Pro) n.82+49T>G | |
| 7 | g.44147797T= | CA1703634946 | GCK | c.*714A= (n.*714A=) c.716A= (p.Gln239=) c.719A= (p.Gln240=) c.713A= (p.Gln238=) c.665A= (p.Gln222=) n.82+49T= | |
| 7 | g.44147798G>A | CA367400712 | GCK | c.*713C>T (n.*713C>T) c.715C>T (p.Gln239Ter) c.718C>T (p.Gln240Ter) c.712C>T (p.Gln238Ter) c.664C>T (p.Gln222Ter) n.82+50G>A | ClinVar |
| 7 | g.44147798G>C | CA367400713 | GCK | c.*713C>G (n.*713C>G) c.715C>G (p.Gln239Glu) c.718C>G (p.Gln240Glu) c.712C>G (p.Gln238Glu) c.664C>G (p.Gln222Glu) n.82+50G>C | gnomAD v4 |
| 7 | g.44147798G= | CA1703634947 | GCK | c.*713C= (n.*713C=) c.715C= (p.Gln239=) c.718C= (p.Gln240=) c.712C= (p.Gln238=) c.664C= (p.Gln222=) n.82+50G= | |
| 7 | g.44147798G>T | CA367400711 | GCK | c.*713C>A (n.*713C>A) c.715C>A (p.Gln239Lys) c.718C>A (p.Gln240Lys) c.712C>A (p.Gln238Lys) c.664C>A (p.Gln222Lys) n.82+50G>T | dbSNP |
| 7 | g.44147799C>A | CA367400714 | GCK | c.*712G>T (n.*712G>T) c.714G>T (p.Met238Ile) c.717G>T (p.Met239Ile) c.711G>T (p.Met237Ile) c.663G>T (p.Met221Ile) n.82+51C>A | |
| 7 | g.44147799C>G | CA367400715 | GCK | c.*712G>C (n.*712G>C) c.714G>C (p.Met238Ile) c.717G>C (p.Met239Ile) c.711G>C (p.Met237Ile) c.663G>C (p.Met221Ile) n.82+51C>G | |
| 7 | g.44147799C>T | CA367400716 | GCK | c.*712G>A (n.*712G>A) c.714G>A (p.Met238Ile) c.717G>A (p.Met239Ile) c.711G>A (p.Met237Ile) c.663G>A (p.Met221Ile) n.82+51C>T | |
| 7 | g.44147800del | CA2695203118 | GCK | c.*711del (n.*711del) c.713del (p.Met238SerfsTer?) c.716del (p.Met239SerfsTer?) c.710del (p.Met237SerfsTer?) c.662del (p.Met221SerfsTer?) n.82+52del | |
| 7 | g.44147800A>C | CA367400717 | GCK | c.*711T>G (n.*711T>G) c.713T>G (p.Met238Arg) c.716T>G (p.Met239Arg) c.710T>G (p.Met237Arg) c.662T>G (p.Met221Arg) n.82+52A>C | |
| 7 | g.44147800A>G | CA367400718 | GCK | c.*711T>C (n.*711T>C) c.713T>C (p.Met238Thr) c.716T>C (p.Met239Thr) c.710T>C (p.Met237Thr) c.662T>C (p.Met221Thr) n.82+52A>G | gnomAD v4 |
| 7 | g.44147800A>T | CA367400719 | GCK | c.*711T>A (n.*711T>A) c.713T>A (p.Met238Lys) c.716T>A (p.Met239Lys) c.710T>A (p.Met237Lys) c.662T>A (p.Met221Lys) n.82+52A>T | |
| 7 | g.44147801T>A | CA367400720 | GCK | c.*710A>T (n.*710A>T) c.712A>T (p.Met238Leu) c.715A>T (p.Met239Leu) c.709A>T (p.Met237Leu) c.661A>T (p.Met221Leu) n.82+53T>A | |
| 7 | g.44147801T>C | CA367400721 | GCK | c.*710A>G (n.*710A>G) c.712A>G (p.Met238Val) c.715A>G (p.Met239Val) c.709A>G (p.Met237Val) c.661A>G (p.Met221Val) n.82+53T>C | |
| 7 | g.44147801T>G | CA367400722 | GCK | c.*710A>C (n.*710A>C) c.712A>C (p.Met238Leu) c.715A>C (p.Met239Leu) c.709A>C (p.Met237Leu) c.661A>C (p.Met221Leu) n.82+53T>G | |
| 7 | g.44147802C>A | CA367400723 | GCK | c.*709G>T (n.*709G>T) c.711G>T (p.Glu237Asp) c.714G>T (p.Glu238Asp) c.708G>T (p.Glu236Asp) c.660G>T (p.Glu220Asp) n.82+54C>A | |
| 7 | g.44147802C= | CA1703634949 | GCK | c.*709G= (n.*709G=) c.711G= (p.Glu237=) c.714G= (p.Glu238=) c.708G= (p.Glu236=) c.660G= (p.Glu220=) n.82+54C= | |
| 7 | g.44147802C>G | CA367400724 | GCK | c.*709G>C (n.*709G>C) c.711G>C (p.Glu237Asp) c.714G>C (p.Glu238Asp) c.708G>C (p.Glu236Asp) c.660G>C (p.Glu220Asp) n.82+54C>G | |
| 7 | g.44147802C>T | CA4239536 | GCK | c.*709G>A (n.*709G>A) c.711G>A (p.Glu237=) c.714G>A (p.Glu238=) c.708G>A (p.Glu236=) c.660G>A (p.Glu220=) n.82+54C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147802_44147803delinsCT | CA1703634948 | GCK | c.*708_*709delinsAG (n.*708_*709delinsAG) c.710_711delinsAG (p.Glu237=) c.713_714delinsAG (p.Glu238=) c.707_708delinsAG (p.Glu236=) c.659_660delinsAG (p.Glu220=) n.82+54_82+55delinsCT | |
| 7 | g.44147803del | CA4239537 | GCK | c.*708del (n.*708del) c.710del (p.Glu237GlyfsTer?) c.713del (p.Glu238GlyfsTer?) c.707del (p.Glu236GlyfsTer?) c.659del (p.Glu220GlyfsTer?) n.82+55del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147803T>A | CA367400727 | GCK | c.*708A>T (n.*708A>T) c.710A>T (p.Glu237Val) c.713A>T (p.Glu238Val) c.707A>T (p.Glu236Val) c.659A>T (p.Glu220Val) n.82+55T>A | ClinVar |
| 7 | g.44147803T>C | CA367400726 | GCK | c.*708A>G (n.*708A>G) c.710A>G (p.Glu237Gly) c.713A>G (p.Glu238Gly) c.707A>G (p.Glu236Gly) c.659A>G (p.Glu220Gly) n.82+55T>C | |
| 7 | g.44147803T>G | CA367400725 | GCK | c.*708A>C (n.*708A>C) c.710A>C (p.Glu237Ala) c.713A>C (p.Glu238Ala) c.707A>C (p.Glu236Ala) c.659A>C (p.Glu220Ala) n.82+55T>G | |
| 7 | g.44147804C>A | CA367400728 | GCK | c.*707G>T (n.*707G>T) c.709G>T (p.Glu237Ter) c.712G>T (p.Glu238Ter) c.706G>T (p.Glu236Ter) c.658G>T (p.Glu220Ter) n.82+56C>A | |
| 7 | g.44147804C= | CA1703634950 | GCK | c.*707G= (n.*707G=) c.709G= (p.Glu237=) c.712G= (p.Glu238=) c.706G= (p.Glu236=) c.658G= (p.Glu220=) n.82+56C= | |
| 7 | g.44147804C>G | CA367400729 | GCK | c.*707G>C (n.*707G>C) c.709G>C (p.Glu237Gln) c.712G>C (p.Glu238Gln) c.706G>C (p.Glu236Gln) c.658G>C (p.Glu220Gln) n.82+56C>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147804C>T | CA367400730 | GCK | c.*707G>A (n.*707G>A) c.709G>A (p.Glu237Lys) c.712G>A (p.Glu238Lys) c.706G>A (p.Glu236Lys) c.658G>A (p.Glu220Lys) n.82+56C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147805dup | CA2695203121 | GCK | c.*707dup (n.*707dup) c.709dup (p.Glu237GlyfsTer?) c.712dup (p.Glu238GlyfsTer?) c.706dup (p.Glu236GlyfsTer?) c.658dup (p.Glu220GlyfsTer?) n.82+57dup | |
| 7 | g.44147805C>A | CA367400731 | GCK | c.*706G>T (n.*706G>T) c.708G>T (p.Glu236Asp) c.711G>T (p.Glu237Asp) c.705G>T (p.Glu235Asp) c.657G>T (p.Glu219Asp) n.82+57C>A | |
| 7 | g.44147805C>G | CA367400732 | GCK | c.*706G>C (n.*706G>C) c.708G>C (p.Glu236Asp) c.711G>C (p.Glu237Asp) c.705G>C (p.Glu235Asp) c.657G>C (p.Glu219Asp) n.82+57C>G | |
| 7 | g.44147805C>T | CA454608750 | GCK | c.*706G>A (n.*706G>A) c.708G>A (p.Glu236=) c.711G>A (p.Glu237=) c.705G>A (p.Glu235=) c.657G>A (p.Glu219=) n.82+57C>T | |
| 7 | g.44147806T>A | CA367400733 | GCK | c.*705A>T (n.*705A>T) c.707A>T (p.Glu236Val) c.710A>T (p.Glu237Val) c.704A>T (p.Glu235Val) c.656A>T (p.Glu219Val) n.82+58T>A | ClinVar |
| 7 | g.44147806T>C | CA367400734 | GCK | c.*705A>G (n.*705A>G) c.707A>G (p.Glu236Gly) c.710A>G (p.Glu237Gly) c.704A>G (p.Glu235Gly) c.656A>G (p.Glu219Gly) n.82+58T>C | |
| 7 | g.44147806T>G | CA367400735 | GCK | c.*705A>C (n.*705A>C) c.707A>C (p.Glu236Ala) c.710A>C (p.Glu237Ala) c.704A>C (p.Glu235Ala) c.656A>C (p.Glu219Ala) n.82+58T>G | |
| 7 | g.44147807C>A | CA367400736 | GCK | c.*704G>T (n.*704G>T) c.706G>T (p.Glu236Ter) c.709G>T (p.Glu237Ter) c.703G>T (p.Glu235Ter) c.655G>T (p.Glu219Ter) n.82+59C>A | |
| 7 | g.44147807C= | CA1703634951 | GCK | c.*704G= (n.*704G=) c.706G= (p.Glu236=) c.709G= (p.Glu237=) c.703G= (p.Glu235=) c.655G= (p.Glu219=) n.82+59C= | |
| 7 | g.44147807C>G | CA367400737 | GCK | c.*704G>C (n.*704G>C) c.706G>C (p.Glu236Gln) c.709G>C (p.Glu237Gln) c.703G>C (p.Glu235Gln) c.655G>C (p.Glu219Gln) n.82+59C>G | |
| 7 | g.44147807C>T | CA152959 | GCK | c.*704G>A (n.*704G>A) c.706G>A (p.Glu236Lys) c.709G>A (p.Glu237Lys) c.703G>A (p.Glu235Lys) c.655G>A (p.Glu219Lys) n.82+59C>T | ClinVar dbSNP |
| 7 | g.44147808C>A | CA367400739 | GCK | c.*703G>T (n.*703G>T) c.705G>T (p.Met235Ile) c.708G>T (p.Met236Ile) c.702G>T (p.Met234Ile) c.654G>T (p.Met218Ile) n.82+60C>A | |
| 7 | g.44147808C>G | CA367400740 | GCK | c.*703G>C (n.*703G>C) c.705G>C (p.Met235Ile) c.708G>C (p.Met236Ile) c.702G>C (p.Met234Ile) c.654G>C (p.Met218Ile) n.82+60C>G | |
| 7 | g.44147808C>T | CA367400738 | GCK | c.*703G>A (n.*703G>A) c.705G>A (p.Met235Ile) c.708G>A (p.Met236Ile) c.702G>A (p.Met234Ile) c.654G>A (p.Met218Ile) n.82+60C>T | |
| 7 | g.44147809A= | CA1703634952 | GCK | c.*702T= (n.*702T=) c.704T= (p.Met235=) c.707T= (p.Met236=) c.701T= (p.Met234=) c.653T= (p.Met218=) n.82+61A= | |
| 7 | g.44147809A>C | CA367400741 | GCK | c.*702T>G (n.*702T>G) c.704T>G (p.Met235Arg) c.707T>G (p.Met236Arg) c.701T>G (p.Met234Arg) c.653T>G (p.Met218Arg) n.82+61A>C | |
| 7 | g.44147809A>G | CA213834 | GCK | c.*702T>C (n.*702T>C) c.704T>C (p.Met235Thr) c.707T>C (p.Met236Thr) c.701T>C (p.Met234Thr) c.653T>C (p.Met218Thr) n.82+61A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147809A>T | CA367400742 | GCK | c.*702T>A (n.*702T>A) c.704T>A (p.Met235Lys) c.707T>A (p.Met236Lys) c.701T>A (p.Met234Lys) c.653T>A (p.Met218Lys) n.82+61A>T | |
| 7 | g.44147810T>A | CA367400743 | GCK | c.*701A>T (n.*701A>T) c.703A>T (p.Met235Leu) c.706A>T (p.Met236Leu) c.700A>T (p.Met234Leu) c.652A>T (p.Met218Leu) n.82+62T>A | gnomAD v4 |
| 7 | g.44147810T>C | CA16605219 | GCK | c.*701A>G (n.*701A>G) c.703A>G (p.Met235Val) c.706A>G (p.Met236Val) c.700A>G (p.Met234Val) c.652A>G (p.Met218Val) n.82+62T>C | ClinVar dbSNP |
| 7 | g.44147810T>G | CA367400744 | GCK | c.*701A>C (n.*701A>C) c.703A>C (p.Met235Leu) c.706A>C (p.Met236Leu) c.700A>C (p.Met234Leu) c.652A>C (p.Met218Leu) n.82+62T>G | |
| 7 | g.44147810T= | CA1703634953 | GCK | c.*701A= (n.*701A=) c.703A= (p.Met235=) c.706A= (p.Met236=) c.700A= (p.Met234=) c.652A= (p.Met218=) n.82+62T= | |
| 7 | g.44147811G>A | CA454608757 | GCK | c.*700C>T (n.*700C>T) c.702C>T (p.Tyr234=) c.705C>T (p.Tyr235=) c.699C>T (p.Tyr233=) c.651C>T (p.Tyr217=) n.82+63G>A | |
| 7 | g.44147811G>C | CA367400745 | GCK | c.*700C>G (n.*700C>G) c.702C>G (p.Tyr234Ter) c.705C>G (p.Tyr235Ter) c.699C>G (p.Tyr233Ter) c.651C>G (p.Tyr217Ter) n.82+63G>C | |
| 7 | g.44147811G>T | CA367400746 | GCK | c.*700C>A (n.*700C>A) c.702C>A (p.Tyr234Ter) c.705C>A (p.Tyr235Ter) c.699C>A (p.Tyr233Ter) c.651C>A (p.Tyr217Ter) n.82+63G>T | |
| 7 | g.44147812T>A | CA367400747 | GCK | c.*699A>T (n.*699A>T) c.701A>T (p.Tyr234Phe) c.704A>T (p.Tyr235Phe) c.698A>T (p.Tyr233Phe) c.650A>T (p.Tyr217Phe) n.82+64T>A | |
| 7 | g.44147812T>C | CA367400748 | GCK | c.*699A>G (n.*699A>G) c.701A>G (p.Tyr234Cys) c.704A>G (p.Tyr235Cys) c.698A>G (p.Tyr233Cys) c.650A>G (p.Tyr217Cys) n.82+64T>C | ClinVar dbSNP |
| 7 | g.44147812T>G | CA367400749 | GCK | c.*699A>C (n.*699A>C) c.701A>C (p.Tyr234Ser) c.704A>C (p.Tyr235Ser) c.698A>C (p.Tyr233Ser) c.650A>C (p.Tyr217Ser) n.82+64T>G | |
| 7 | g.44147812T= | CA1703634954 | GCK | c.*699A= (n.*699A=) c.701A= (p.Tyr234=) c.704A= (p.Tyr235=) c.698A= (p.Tyr233=) c.650A= (p.Tyr217=) n.82+64T= | |
| 7 | g.44147813A>C | CA367400750 | GCK | c.*698T>G (n.*698T>G) c.700T>G (p.Tyr234Asp) c.703T>G (p.Tyr235Asp) c.697T>G (p.Tyr233Asp) c.649T>G (p.Tyr217Asp) n.82+65A>C | |
| 7 | g.44147813A>G | CA367400751 | GCK | c.*698T>C (n.*698T>C) c.700T>C (p.Tyr234His) c.703T>C (p.Tyr235His) c.697T>C (p.Tyr233His) c.649T>C (p.Tyr217His) n.82+65A>G | |
| 7 | g.44147813A>T | CA367400752 | GCK | c.*698T>A (n.*698T>A) c.700T>A (p.Tyr234Asn) c.703T>A (p.Tyr235Asn) c.697T>A (p.Tyr233Asn) c.649T>A (p.Tyr217Asn) n.82+65A>T | |
| 7 | g.44147815_44147817del | CA2697557250 | GCK | c.*696_*698del (n.*696_*698del) c.698_700del (p.Cys233del) c.701_703del (p.Cys234del) c.695_697del (p.Cys232del) c.647_649del (p.Cys216del) n.82+67_82+69del | ClinVar |
| 7 | g.44147814G>A | CA454608759 | GCK | c.*697C>T (n.*697C>T) c.699C>T (p.Cys233=) c.702C>T (p.Cys234=) c.696C>T (p.Cys232=) c.648C>T (p.Cys216=) n.82+66G>A | |
| 7 | g.44147814G>C | CA367400754 | GCK | c.*697C>G (n.*697C>G) c.699C>G (p.Cys233Trp) c.702C>G (p.Cys234Trp) c.696C>G (p.Cys232Trp) c.648C>G (p.Cys216Trp) n.82+66G>C | |
| 7 | g.44147814G>T | CA367400753 | GCK | c.*697C>A (n.*697C>A) c.699C>A (p.Cys233Ter) c.702C>A (p.Cys234Ter) c.696C>A (p.Cys232Ter) c.648C>A (p.Cys216Ter) n.82+66G>T | |
| 7 | g.44147815C>A | CA367400755 | GCK | c.*696G>T (n.*696G>T) c.698G>T (p.Cys233Phe) c.701G>T (p.Cys234Phe) c.695G>T (p.Cys232Phe) c.647G>T (p.Cys216Phe) n.82+67C>A | |
| 7 | g.44147815C>G | CA367400756 | GCK | c.*696G>C (n.*696G>C) c.698G>C (p.Cys233Ser) c.701G>C (p.Cys234Ser) c.695G>C (p.Cys232Ser) c.647G>C (p.Cys216Ser) n.82+67C>G | |
| 7 | g.44147815C>T | CA367400757 | GCK | c.*696G>A (n.*696G>A) c.698G>A (p.Cys233Tyr) c.701G>A (p.Cys234Tyr) c.695G>A (p.Cys232Tyr) c.647G>A (p.Cys216Tyr) n.82+67C>T | |
| 7 | g.44147816A>C | CA367400758 | GCK | c.*695T>G (n.*695T>G) c.697T>G (p.Cys233Gly) c.700T>G (p.Cys234Gly) c.694T>G (p.Cys232Gly) c.646T>G (p.Cys216Gly) n.82+68A>C | |
| 7 | g.44147816A>G | CA367400759 | GCK | c.*695T>C (n.*695T>C) c.697T>C (p.Cys233Arg) c.700T>C (p.Cys234Arg) c.694T>C (p.Cys232Arg) c.646T>C (p.Cys216Arg) n.82+68A>G | gnomAD v4 |
| 7 | g.44147816A>T | CA367400760 | GCK | c.*695T>A (n.*695T>A) c.697T>A (p.Cys233Ser) c.700T>A (p.Cys234Ser) c.694T>A (p.Cys232Ser) c.646T>A (p.Cys216Ser) n.82+68A>T | |
| 7 | g.44147817G>A | CA454608760 | GCK | c.*694C>T (n.*694C>T) c.696C>T (p.Ala232=) c.699C>T (p.Ala233=) c.693C>T (p.Ala231=) c.645C>T (p.Ala215=) n.82+69G>A | gnomAD v4 |
| 7 | g.44147817G>C | CA454608761 | GCK | c.*694C>G (n.*694C>G) c.696C>G (p.Ala232=) c.699C>G (p.Ala233=) c.693C>G (p.Ala231=) c.645C>G (p.Ala215=) n.82+69G>C | |
| 7 | g.44147817G>T | CA454608763 | GCK | c.*694C>A (n.*694C>A) c.696C>A (p.Ala232=) c.699C>A (p.Ala233=) c.693C>A (p.Ala231=) c.645C>A (p.Ala215=) n.82+69G>T | |
| 7 | g.44147818G>A | CA367400763 | GCK | c.*693C>T (n.*693C>T) c.695C>T (p.Ala232Val) c.698C>T (p.Ala233Val) c.692C>T (p.Ala231Val) c.644C>T (p.Ala215Val) n.82+70G>A | |
| 7 | g.44147818G>C | CA367400761 | GCK | c.*693C>G (n.*693C>G) c.695C>G (p.Ala232Gly) c.698C>G (p.Ala233Gly) c.692C>G (p.Ala231Gly) c.644C>G (p.Ala215Gly) n.82+70G>C | |
| 7 | g.44147818G>T | CA367400762 | GCK | c.*693C>A (n.*693C>A) c.695C>A (p.Ala232Asp) c.698C>A (p.Ala233Asp) c.692C>A (p.Ala231Asp) c.644C>A (p.Ala215Asp) n.82+70G>T | ClinVar |
| 7 | g.44147819del | CA2557114098 | GCK | c.*692del (n.*692del) c.694del (p.Ala232ProfsTer?) c.697del (p.Ala233ProfsTer?) c.691del (p.Ala231ProfsTer?) c.643del (p.Ala215ProfsTer?) n.82+71del | |
| 7 | g.44147819C>A | CA367400764 | GCK | c.*692G>T (n.*692G>T) c.694G>T (p.Ala232Ser) c.697G>T (p.Ala233Ser) c.691G>T (p.Ala231Ser) c.643G>T (p.Ala215Ser) n.82+71C>A | |
| 7 | g.44147819C= | CA1703634955 | GCK | c.*692G= (n.*692G=) c.694G= (p.Ala232=) c.697G= (p.Ala233=) c.691G= (p.Ala231=) c.643G= (p.Ala215=) n.82+71C= | |
| 7 | g.44147819C>G | CA367400765 | GCK | c.*692G>C (n.*692G>C) c.694G>C (p.Ala232Pro) c.697G>C (p.Ala233Pro) c.691G>C (p.Ala231Pro) c.643G>C (p.Ala215Pro) n.82+71C>G | |
| 7 | g.44147819C>T | CA213832 | GCK | c.*692G>A (n.*692G>A) c.694G>A (p.Ala232Thr) c.697G>A (p.Ala233Thr) c.691G>A (p.Ala231Thr) c.643G>A (p.Ala215Thr) n.82+71C>T | ClinVar dbSNP |
| 7 | g.44147820A>C | CA367400766 | GCK | c.*691T>G (n.*691T>G) c.693T>G (p.Asn231Lys) c.696T>G (p.Asn232Lys) c.690T>G (p.Asn230Lys) c.642T>G (p.Asn214Lys) n.82+72A>C | |
| 7 | g.44147820A>G | CA454608764 | GCK | c.*691T>C (n.*691T>C) c.693T>C (p.Asn231=) c.696T>C (p.Asn232=) c.690T>C (p.Asn230=) c.642T>C (p.Asn214=) n.82+72A>G | |
| 7 | g.44147820A>T | CA367400767 | GCK | c.*691T>A (n.*691T>A) c.693T>A (p.Asn231Lys) c.696T>A (p.Asn232Lys) c.690T>A (p.Asn230Lys) c.642T>A (p.Asn214Lys) n.82+72A>T | |
| 7 | g.44147821T>A | CA367400768 | GCK | c.*690A>T (n.*690A>T) c.692A>T (p.Asn231Ile) c.695A>T (p.Asn232Ile) c.689A>T (p.Asn230Ile) c.641A>T (p.Asn214Ile) n.82+73T>A | ClinVar |
| 7 | g.44147821T>C | CA367400770 | GCK | c.*690A>G (n.*690A>G) c.692A>G (p.Asn231Ser) c.695A>G (p.Asn232Ser) c.689A>G (p.Asn230Ser) c.641A>G (p.Asn214Ser) n.82+73T>C | |
| 7 | g.44147821T>G | CA367400769 | GCK | c.*690A>C (n.*690A>C) c.692A>C (p.Asn231Thr) c.695A>C (p.Asn232Thr) c.689A>C (p.Asn230Thr) c.641A>C (p.Asn214Thr) n.82+73T>G | |
| 7 | g.44147822del | CA2695203123 | GCK | c.*690del (n.*690del) c.692del (p.Asn231MetfsTer?) c.695del (p.Asn232MetfsTer?) c.689del (p.Asn230MetfsTer?) c.641del (p.Asn214MetfsTer?) n.82+74del | |
| 7 | g.44147821_44147822insG | CA2572688352 | GCK | c.*689_*690insC (n.*689_*690insC) c.691_692insC (p.Asn231ThrfsTer?) c.694_695insC (p.Asn232ThrfsTer?) c.688_689insC (p.Asn230ThrfsTer?) c.640_641insC (p.Asn214ThrfsTer?) n.82+73_82+74insG | |
| 7 | g.44147822T>A | CA367400771 | GCK | c.*689A>T (n.*689A>T) c.691A>T (p.Asn231Tyr) c.694A>T (p.Asn232Tyr) c.688A>T (p.Asn230Tyr) c.640A>T (p.Asn214Tyr) n.82+74T>A | |
| 7 | g.44147822T>C | CA367400772 | GCK | c.*689A>G (n.*689A>G) c.691A>G (p.Asn231Asp) c.694A>G (p.Asn232Asp) c.688A>G (p.Asn230Asp) c.640A>G (p.Asn214Asp) n.82+74T>C | ClinVar dbSNP |
| 7 | g.44147822T>G | CA367400773 | GCK | c.*689A>C (n.*689A>C) c.691A>C (p.Asn231His) c.694A>C (p.Asn232His) c.688A>C (p.Asn230His) c.640A>C (p.Asn214His) n.82+74T>G | |
| 7 | g.44147823G>A | CA454608768 | GCK | c.*688C>T (n.*688C>T) c.690C>T (p.Cys230=) c.693C>T (p.Cys231=) c.687C>T (p.Cys229=) c.639C>T (p.Cys213=) n.82+75G>A | |
| 7 | g.44147823G>C | CA367400774 | GCK | c.*688C>G (n.*688C>G) c.690C>G (p.Cys230Trp) c.693C>G (p.Cys231Trp) c.687C>G (p.Cys229Trp) c.639C>G (p.Cys213Trp) n.82+75G>C | |
| 7 | g.44147823G>T | CA367400775 | GCK | c.*688C>A (n.*688C>A) c.690C>A (p.Cys230Ter) c.693C>A (p.Cys231Ter) c.687C>A (p.Cys229Ter) c.639C>A (p.Cys213Ter) n.82+75G>T | |
| 7 | g.44147824C>A | CA367400778 | GCK | c.*687G>T (n.*687G>T) c.689G>T (p.Cys230Phe) c.692G>T (p.Cys231Phe) c.686G>T (p.Cys229Phe) c.638G>T (p.Cys213Phe) n.82+76C>A | |
| 7 | g.44147824C>G | CA367400777 | GCK | c.*687G>C (n.*687G>C) c.689G>C (p.Cys230Ser) c.692G>C (p.Cys231Ser) c.686G>C (p.Cys229Ser) c.638G>C (p.Cys213Ser) n.82+76C>G | |
| 7 | g.44147824C>T | CA367400776 | GCK | c.*687G>A (n.*687G>A) c.689G>A (p.Cys230Tyr) c.692G>A (p.Cys231Tyr) c.686G>A (p.Cys229Tyr) c.638G>A (p.Cys213Tyr) n.82+76C>T | ClinVar |
| 7 | g.44147825A= | CA1703634956 | GCK | c.*686T= (n.*686T=) c.688T= (p.Cys230=) c.691T= (p.Cys231=) c.685T= (p.Cys229=) c.637T= (p.Cys213=) n.82+77A= | |
| 7 | g.44147825A>C | CA367400779 | GCK | c.*686T>G (n.*686T>G) c.688T>G (p.Cys230Gly) c.691T>G (p.Cys231Gly) c.685T>G (p.Cys229Gly) c.637T>G (p.Cys213Gly) n.82+77A>C | |
| 7 | g.44147825A>G | CA247034 | GCK | c.*686T>C (n.*686T>C) c.688T>C (p.Cys230Arg) c.691T>C (p.Cys231Arg) c.685T>C (p.Cys229Arg) c.637T>C (p.Cys213Arg) n.82+77A>G | ClinVar dbSNP |
| 7 | g.44147825A>T | CA367400780 | GCK | c.*686T>A (n.*686T>A) c.688T>A (p.Cys230Ser) c.691T>A (p.Cys231Ser) c.685T>A (p.Cys229Ser) c.637T>A (p.Cys213Ser) n.82+77A>T | |
| 7 | g.44147826G>A | CA454608770 | GCK | c.*685C>T (n.*685C>T) c.687C>T (p.Gly229=) c.690C>T (p.Gly230=) c.684C>T (p.Gly228=) c.636C>T (p.Gly212=) n.82+78G>A | |
| 7 | g.44147826G>C | CA454608771 | GCK | c.*685C>G (n.*685C>G) c.687C>G (p.Gly229=) c.690C>G (p.Gly230=) c.684C>G (p.Gly228=) c.636C>G (p.Gly212=) n.82+78G>C | |
| 7 | g.44147826G>T | CA454608772 | GCK | c.*685C>A (n.*685C>A) c.687C>A (p.Gly229=) c.690C>A (p.Gly230=) c.684C>A (p.Gly228=) c.636C>A (p.Gly212=) n.82+78G>T | |
| 7 | g.44147826_44147827delinsGC | CA1703634957 | GCK | c.*684_*685delinsGC (n.*684_*685delinsGC) c.686_687delinsGC (p.Gly229=) c.689_690delinsGC (p.Gly230=) c.683_684delinsGC (p.Gly228=) c.635_636delinsGC (p.Gly212=) n.82+78_82+79delinsGC | |
| 7 | g.44147827C>A | CA367400781 | GCK | c.*684G>T (n.*684G>T) c.686G>T (p.Gly229Val) c.689G>T (p.Gly230Val) c.683G>T (p.Gly228Val) c.635G>T (p.Gly212Val) n.82+79C>A | gnomAD v4 |
| 7 | g.44147827C>G | CA367400782 | GCK | c.*684G>C (n.*684G>C) c.686G>C (p.Gly229Ala) c.689G>C (p.Gly230Ala) c.683G>C (p.Gly228Ala) c.635G>C (p.Gly212Ala) n.82+79C>G | |
| 7 | g.44147827C>T | CA367400783 | GCK | c.*684G>A (n.*684G>A) c.686G>A (p.Gly229Asp) c.689G>A (p.Gly230Asp) c.683G>A (p.Gly228Asp) c.635G>A (p.Gly212Asp) n.82+79C>T | COSMIC COSMIC COSMIC |
| 7 | g.44147829del | CA658655968 | GCK | c.*684del (n.*684del) c.686del (p.Gly229AlafsTer?) c.689del (p.Gly230AlafsTer?) c.683del (p.Gly228AlafsTer?) c.635del (p.Gly212AlafsTer?) n.82+81del | ClinVar dbSNP |
| 7 | g.44147828C>A | CA367400784 | GCK | c.*683G>T (n.*683G>T) c.685G>T (p.Gly229Cys) c.688G>T (p.Gly230Cys) c.682G>T (p.Gly228Cys) c.634G>T (p.Gly212Cys) n.82+80C>A | |
| 7 | g.44147828C>G | CA367400786 | GCK | c.*683G>C (n.*683G>C) c.685G>C (p.Gly229Arg) c.688G>C (p.Gly230Arg) c.682G>C (p.Gly228Arg) c.634G>C (p.Gly212Arg) n.82+80C>G | |
| 7 | g.44147828C>T | CA367400785 | GCK | c.*683G>A (n.*683G>A) c.685G>A (p.Gly229Ser) c.688G>A (p.Gly230Ser) c.682G>A (p.Gly228Ser) c.634G>A (p.Gly212Ser) n.82+80C>T | ClinVar |
| 7 | g.44147829C>A | CA454608773 | GCK | c.*682G>T (n.*682G>T) c.684G>T (p.Thr228=) c.687G>T (p.Thr229=) c.681G>T (p.Thr227=) c.633G>T (p.Thr211=) n.82+81C>A | gnomAD v4 |
| 7 | g.44147829C= | CA1703634958 | GCK | c.*682G= (n.*682G=) c.684G= (p.Thr228=) c.687G= (p.Thr229=) c.681G= (p.Thr227=) c.633G= (p.Thr211=) n.82+81C= | |
| 7 | g.44147829C>G | CA454608775 | GCK | c.*682G>C (n.*682G>C) c.684G>C (p.Thr228=) c.687G>C (p.Thr229=) c.681G>C (p.Thr227=) c.633G>C (p.Thr211=) n.82+81C>G | gnomAD v4 |
| 7 | g.44147829C>T | CA4239538 | GCK | c.*682G>A (n.*682G>A) c.684G>A (p.Thr228=) c.687G>A (p.Thr229=) c.681G>A (p.Thr227=) c.633G>A (p.Thr211=) n.82+81C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147830G>A | CA260620 | GCK | c.*681C>T (n.*681C>T) c.683C>T (p.Thr228Met) c.686C>T (p.Thr229Met) c.680C>T (p.Thr227Met) c.632C>T (p.Thr211Met) n.82+82G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147830G>C | CA367400787 | GCK | c.*681C>G (n.*681C>G) c.683C>G (p.Thr228Arg) c.686C>G (p.Thr229Arg) c.680C>G (p.Thr227Arg) c.632C>G (p.Thr211Arg) n.82+82G>C | ClinVar gnomAD v4 |
| 7 | g.44147830G= | CA1703634959 | GCK | c.*681C= (n.*681C=) c.683C= (p.Thr228=) c.686C= (p.Thr229=) c.680C= (p.Thr227=) c.632C= (p.Thr211=) n.82+82G= | |
| 7 | g.44147830G>T | CA367400788 | GCK | c.*681C>A (n.*681C>A) c.683C>A (p.Thr228Lys) c.686C>A (p.Thr229Lys) c.680C>A (p.Thr227Lys) c.632C>A (p.Thr211Lys) n.82+82G>T | ClinVar |
| 7 | g.44147831T>A | CA367400789 | GCK | c.*680A>T (n.*680A>T) c.682A>T (p.Thr228Ser) c.685A>T (p.Thr229Ser) c.679A>T (p.Thr227Ser) c.631A>T (p.Thr211Ser) n.82+83T>A | |
| 7 | g.44147831T>C | CA367400790 | GCK | c.*680A>G (n.*680A>G) c.682A>G (p.Thr228Ala) c.685A>G (p.Thr229Ala) c.679A>G (p.Thr227Ala) c.631A>G (p.Thr211Ala) n.82+83T>C | ClinVar dbSNP gnomAD v2 |
| 7 | g.44147831T>G | CA367400791 | GCK | c.*680A>C (n.*680A>C) c.682A>C (p.Thr228Pro) c.685A>C (p.Thr229Pro) c.679A>C (p.Thr227Pro) c.631A>C (p.Thr211Pro) n.82+83T>G | |
| 7 | g.44147831T= | CA1703634960 | GCK | c.*680A= (n.*680A=) c.682A= (p.Thr228=) c.685A= (p.Thr229=) c.679A= (p.Thr227=) c.631A= (p.Thr211=) n.82+83T= | |
| 7 | g.44147832G>A | CA454608780 | GCK | c.*679C>T (n.*679C>T) c.681C>T (p.Gly227=) c.684C>T (p.Gly228=) c.678C>T (p.Gly226=) c.630C>T (p.Gly210=) n.82+84G>A | |
| 7 | g.44147832G>C | CA454608781 | GCK | c.*679C>G (n.*679C>G) c.681C>G (p.Gly227=) c.684C>G (p.Gly228=) c.678C>G (p.Gly226=) c.630C>G (p.Gly210=) n.82+84G>C | |
| 7 | g.44147832G>T | CA454608782 | GCK | c.*679C>A (n.*679C>A) c.681C>A (p.Gly227=) c.684C>A (p.Gly228=) c.678C>A (p.Gly226=) c.630C>A (p.Gly210=) n.82+84G>T | |
| 7 | g.44147833C>A | CA367400792 | GCK | c.*678G>T (n.*678G>T) c.680G>T (p.Gly227Val) c.683G>T (p.Gly228Val) c.677G>T (p.Gly226Val) c.629G>T (p.Gly210Val) n.82+85C>A | |
| 7 | g.44147833C>G | CA367400793 | GCK | c.*678G>C (n.*678G>C) c.680G>C (p.Gly227Ala) c.683G>C (p.Gly228Ala) c.677G>C (p.Gly226Ala) c.629G>C (p.Gly210Ala) n.82+85C>G | |
| 7 | g.44147833C>T | CA367400794 | GCK | c.*678G>A (n.*678G>A) c.680G>A (p.Gly227Asp) c.683G>A (p.Gly228Asp) c.677G>A (p.Gly226Asp) c.629G>A (p.Gly210Asp) n.82+85C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147834dup | CA2573320722 | GCK | c.*678dup c.680dup c.683dup c.677dup c.629dup n.82+86dup | |
| 7 | g.44147834C>A | CA367400796 | GCK | c.*678-1G>T (n.*678-1G>T) c.680-1G>T (n.680-1G>T) c.683-1G>T (n.683-1G>T) c.677-1G>T (n.677-1G>T) c.629-1G>T (n.629-1G>T) n.82+86C>A | |
| 7 | g.44147834C= | CA1703634961 | GCK | c.*678-1G= (n.*678-1G=) c.680-1G= (n.680-1G=) c.683-1G= (n.683-1G=) c.677-1G= (n.677-1G=) c.629-1G= (n.629-1G=) n.82+86C= | |
| 7 | g.44147834C>G | CA367400795 | GCK | c.*678-1G>C (n.*678-1G>C) c.680-1G>C (n.680-1G>C) c.683-1G>C (n.683-1G>C) c.677-1G>C (n.677-1G>C) c.629-1G>C (n.629-1G>C) n.82+86C>G | |
| 7 | g.44147834C>T | CA16609269 | GCK | c.*678-1G>A (n.*678-1G>A) c.680-1G>A (n.680-1G>A) c.683-1G>A (n.683-1G>A) c.677-1G>A (n.677-1G>A) c.629-1G>A (n.629-1G>A) n.82+86C>T | ClinVar dbSNP |