| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44148538_44152555dup | CA1139771162 | GCK | c.*207-130_*678-705dup c.209-130_680-705dup n.695-130_2387dup c.212-130_683-705dup c.206-130_677-705dup c.209-130_629-705dup | |
| 7 | g.44149823T>A | CA367401338 | GCK | c.*614A>T (n.*614A>T) c.616A>T (p.Thr206Ser) n.1102A>T c.619A>T (p.Thr207Ser) c.613A>T (p.Thr205Ser) c.565A>T (p.Thr189Ser) | |
| 7 | g.44149823T>C | CA367401339 | GCK | c.*614A>G (n.*614A>G) c.616A>G (p.Thr206Ala) n.1102A>G c.619A>G (p.Thr207Ala) c.613A>G (p.Thr205Ala) c.565A>G (p.Thr189Ala) | |
| 7 | g.44149823T>G | CA152955 | GCK | c.*614A>C (n.*614A>C) c.616A>C (p.Thr206Pro) n.1102A>C c.619A>C (p.Thr207Pro) c.613A>C (p.Thr205Pro) c.565A>C (p.Thr189Pro) | ClinVar dbSNP |
| 7 | g.44149823T= | CA1703635880 | GCK | c.*614A= (n.*614A=) c.616A= (p.Thr206=) n.1102A= c.619A= (p.Thr207=) c.613A= (p.Thr205=) c.565A= (p.Thr189=) | |
| 7 | g.44149824G>A | CA454609113 | GCK | c.*613C>T (n.*613C>T) c.615C>T (p.Asp205=) n.1101C>T c.618C>T (p.Asp206=) c.612C>T (p.Asp204=) c.564C>T (p.Asp188=) | |
| 7 | g.44149824G>C | CA213812 | GCK | c.*613C>G (n.*613C>G) c.615C>G (p.Asp205Glu) n.1101C>G c.618C>G (p.Asp206Glu) c.612C>G (p.Asp204Glu) c.564C>G (p.Asp188Glu) | ClinVar dbSNP |
| 7 | g.44149824G= | CA1703635881 | GCK | c.*613C= (n.*613C=) c.615C= (p.Asp205=) n.1101C= c.618C= (p.Asp206=) c.612C= (p.Asp204=) c.564C= (p.Asp188=) | |
| 7 | g.44149824G>T | CA367401342 | GCK | c.*613C>A (n.*613C>A) c.615C>A (p.Asp205Glu) n.1101C>A c.618C>A (p.Asp206Glu) c.612C>A (p.Asp204Glu) c.564C>A (p.Asp188Glu) | ClinVar |
| 7 | g.44149825T>A | CA367401343 | GCK | c.*612A>T (n.*612A>T) c.614A>T (p.Asp205Val) n.1100A>T c.617A>T (p.Asp206Val) c.611A>T (p.Asp204Val) c.563A>T (p.Asp188Val) | ClinVar dbSNP |
| 7 | g.44149825T>C | CA367401344 | GCK | c.*612A>G (n.*612A>G) c.614A>G (p.Asp205Gly) n.1100A>G c.617A>G (p.Asp206Gly) c.611A>G (p.Asp204Gly) c.563A>G (p.Asp188Gly) | ClinVar dbSNP |
| 7 | g.44149825T>G | CA367401346 | GCK | c.*612A>C (n.*612A>C) c.614A>C (p.Asp205Ala) n.1100A>C c.617A>C (p.Asp206Ala) c.611A>C (p.Asp204Ala) c.563A>C (p.Asp188Ala) | |
| 7 | g.44149826C>A | CA367401348 | GCK | c.*611G>T (n.*611G>T) c.613G>T (p.Asp205Tyr) n.1099G>T c.616G>T (p.Asp206Tyr) c.610G>T (p.Asp204Tyr) c.562G>T (p.Asp188Tyr) | ClinVar gnomAD v4 |
| 7 | g.44149826C>G | CA367401349 | GCK | c.*611G>C (n.*611G>C) c.613G>C (p.Asp205His) n.1099G>C c.616G>C (p.Asp206His) c.610G>C (p.Asp204His) c.562G>C (p.Asp188His) | |
| 7 | g.44149826C>T | CA367401351 | GCK | c.*611G>A (n.*611G>A) c.613G>A (p.Asp205Asn) n.1099G>A c.616G>A (p.Asp206Asn) c.610G>A (p.Asp204Asn) c.562G>A (p.Asp188Asn) | COSMIC COSMIC COSMIC |
| 7 | g.44149827A>C | CA367401352 | GCK | c.*610T>G (n.*610T>G) c.612T>G (p.Asn204Lys) n.1098T>G c.615T>G (p.Asn205Lys) c.609T>G (p.Asn203Lys) c.561T>G (p.Asn187Lys) | |
| 7 | g.44149827A>G | CA454609122 | GCK | c.*610T>C (n.*610T>C) c.612T>C (p.Asn204=) n.1098T>C c.615T>C (p.Asn205=) c.609T>C (p.Asn203=) c.561T>C (p.Asn187=) | |
| 7 | g.44149827A>T | CA367401354 | GCK | c.*610T>A (n.*610T>A) c.612T>A (p.Asn204Lys) n.1098T>A c.615T>A (p.Asn205Lys) c.609T>A (p.Asn203Lys) c.561T>A (p.Asn187Lys) | |
| 7 | g.44149828T>A | CA367401356 | GCK | c.*609A>T (n.*609A>T) c.611A>T (p.Asn204Ile) n.1097A>T c.614A>T (p.Asn205Ile) c.608A>T (p.Asn203Ile) c.560A>T (p.Asn187Ile) | |
| 7 | g.44149828T>C | CA367401357 | GCK | c.*609A>G (n.*609A>G) c.611A>G (p.Asn204Ser) n.1097A>G c.614A>G (p.Asn205Ser) c.608A>G (p.Asn203Ser) c.560A>G (p.Asn187Ser) | |
| 7 | g.44149828T>G | CA367401355 | GCK | c.*609A>C (n.*609A>C) c.611A>C (p.Asn204Thr) n.1097A>C c.614A>C (p.Asn205Thr) c.608A>C (p.Asn203Thr) c.560A>C (p.Asn187Thr) | |
| 7 | g.44149828_44149832del | CA2695203135 | GCK | c.*605_*609del (n.*605_*609del) c.607_611del (p.Val203Ter) n.1093_1097del c.610_614del (p.Val204Ter) c.604_608del (p.Val202Ter) c.556_560del (p.Val186Ter) | |
| 7 | g.44149829T>A | CA367401359 | GCK | c.*608A>T (n.*608A>T) c.610A>T (p.Asn204Tyr) n.1096A>T c.613A>T (p.Asn205Tyr) c.607A>T (p.Asn203Tyr) c.559A>T (p.Asn187Tyr) | |
| 7 | g.44149829T>C | CA367401360 | GCK | c.*608A>G (n.*608A>G) c.610A>G (p.Asn204Asp) n.1096A>G c.613A>G (p.Asn205Asp) c.607A>G (p.Asn203Asp) c.559A>G (p.Asn187Asp) | ClinVar dbSNP |
| 7 | g.44149829T>G | CA367401362 | GCK | c.*608A>C (n.*608A>C) c.610A>C (p.Asn204His) n.1096A>C c.613A>C (p.Asn205His) c.607A>C (p.Asn203His) c.559A>C (p.Asn187His) | |
| 7 | g.44149829_44149830del | CA2580077183 | GCK | c.*607_*608del (n.*607_*608del) c.609_610del (p.Asn204Ter) n.1095_1096del c.612_613del (p.Asn205Ter) c.606_607del (p.Asn203Ter) c.558_559del (p.Asn187Ter) | ClinVar |
| 7 | g.44149830C>A | CA4239571 | GCK | c.*607G>T (n.*607G>T) c.609G>T (p.Val203=) n.1095G>T c.612G>T (p.Val204=) c.606G>T (p.Val202=) c.558G>T (p.Val186=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149830C= | CA1703635882 | GCK | c.*607G= (n.*607G=) c.609G= (p.Val203=) n.1095G= c.612G= (p.Val204=) c.606G= (p.Val202=) c.558G= (p.Val186=) | |
| 7 | g.44149830C>G | CA454609131 | GCK | c.*607G>C (n.*607G>C) c.609G>C (p.Val203=) n.1095G>C c.612G>C (p.Val204=) c.606G>C (p.Val202=) c.558G>C (p.Val186=) | |
| 7 | g.44149830C>T | CA4239570 | GCK | c.*607G>A (n.*607G>A) c.609G>A (p.Val203=) n.1095G>A c.612G>A (p.Val204=) c.606G>A (p.Val202=) c.558G>A (p.Val186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44149831A= | CA1703635883 | GCK | c.*606T= (n.*606T=) c.608T= (p.Val203=) n.1094T= c.611T= (p.Val204=) c.605T= (p.Val202=) c.557T= (p.Val186=) | |
| 7 | g.44149831A>C | CA367401364 | GCK | c.*606T>G (n.*606T>G) c.608T>G (p.Val203Gly) n.1094T>G c.611T>G (p.Val204Gly) c.605T>G (p.Val202Gly) c.557T>G (p.Val186Gly) | |
| 7 | g.44149831A>G | CA367401366 | GCK | c.*606T>C (n.*606T>C) c.608T>C (p.Val203Ala) n.1094T>C c.611T>C (p.Val204Ala) c.605T>C (p.Val202Ala) c.557T>C (p.Val186Ala) | ClinVar dbSNP |
| 7 | g.44149831A>T | CA367401367 | GCK | c.*606T>A (n.*606T>A) c.608T>A (p.Val203Glu) n.1094T>A c.611T>A (p.Val204Glu) c.605T>A (p.Val202Glu) c.557T>A (p.Val186Glu) | |
| 7 | g.44149832C>A | CA367401369 | GCK | c.*605G>T (n.*605G>T) c.607G>T (p.Val203Leu) n.1093G>T c.610G>T (p.Val204Leu) c.604G>T (p.Val202Leu) c.556G>T (p.Val186Leu) | |
| 7 | g.44149832C>G | CA367401370 | GCK | c.*605G>C (n.*605G>C) c.607G>C (p.Val203Leu) n.1093G>C c.610G>C (p.Val204Leu) c.604G>C (p.Val202Leu) c.556G>C (p.Val186Leu) | |
| 7 | g.44149832C>T | CA367401371 | GCK | c.*605G>A (n.*605G>A) c.607G>A (p.Val203Met) n.1093G>A c.610G>A (p.Val204Met) c.604G>A (p.Val202Met) c.556G>A (p.Val186Met) | gnomAD v4 |
| 7 | g.44149832_44149833insACGGTGT | CA2573052877 | GCK | c.*604_*605insACACCGT (n.*604_*605insACACCGT) c.606_607insACACCGT (p.Val203ThrfsTer5) n.1092_1093insACACCGT c.609_610insACACCGT (p.Val204ThrfsTer5) c.603_604insACACCGT (p.Val202ThrfsTer5) c.555_556insACACCGT (p.Val186ThrfsTer5) | ClinVar dbSNP |
| 7 | g.44149833C>A | CA367401375 | GCK | c.*604G>T (n.*604G>T) c.606G>T (p.Met202Ile) n.1092G>T c.609G>T (p.Met203Ile) c.603G>T (p.Met201Ile) c.555G>T (p.Met185Ile) | |
| 7 | g.44149833C>G | CA367401374 | GCK | c.*604G>C (n.*604G>C) c.606G>C (p.Met202Ile) n.1092G>C c.609G>C (p.Met203Ile) c.603G>C (p.Met201Ile) c.555G>C (p.Met185Ile) | |
| 7 | g.44149833C>T | CA367401373 | GCK | c.*604G>A (n.*604G>A) c.606G>A (p.Met202Ile) n.1092G>A c.609G>A (p.Met203Ile) c.603G>A (p.Met201Ile) c.555G>A (p.Met185Ile) | |
| 7 | g.44149834A= | CA1703635884 | GCK | c.*603T= (n.*603T=) c.605T= (p.Met202=) n.1091T= c.608T= (p.Met203=) c.602T= (p.Met201=) c.554T= (p.Met185=) | |
| 7 | g.44149834A>C | CA367401376 | GCK | c.*603T>G (n.*603T>G) c.605T>G (p.Met202Arg) n.1091T>G c.608T>G (p.Met203Arg) c.602T>G (p.Met201Arg) c.554T>G (p.Met185Arg) | |
| 7 | g.44149834A>G | CA213810 | GCK | c.*603T>C (n.*603T>C) c.605T>C (p.Met202Thr) n.1091T>C c.608T>C (p.Met203Thr) c.602T>C (p.Met201Thr) c.554T>C (p.Met185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44149834A>T | CA367401377 | GCK | c.*603T>A (n.*603T>A) c.605T>A (p.Met202Lys) n.1091T>A c.608T>A (p.Met203Lys) c.602T>A (p.Met201Lys) c.554T>A (p.Met185Lys) | |
| 7 | g.44149835T>A | CA367401379 | GCK | c.*602A>T (n.*602A>T) c.604A>T (p.Met202Leu) n.1090A>T c.607A>T (p.Met203Leu) c.601A>T (p.Met201Leu) c.553A>T (p.Met185Leu) | |
| 7 | g.44149835T>C | CA213808 | GCK | c.*602A>G (n.*602A>G) c.604A>G (p.Met202Val) n.1090A>G c.607A>G (p.Met203Val) c.601A>G (p.Met201Val) c.553A>G (p.Met185Val) | ClinVar dbSNP |
| 7 | g.44149835T>G | CA367401381 | GCK | c.*602A>C (n.*602A>C) c.604A>C (p.Met202Leu) n.1090A>C c.607A>C (p.Met203Leu) c.601A>C (p.Met201Leu) c.553A>C (p.Met185Leu) | |
| 7 | g.44149835T= | CA1703635885 | GCK | c.*602A= (n.*602A=) c.604A= (p.Met202=) n.1090A= c.607A= (p.Met203=) c.601A= (p.Met201=) c.553A= (p.Met185=) | |
| 7 | g.44149836T>A | CA454609141 | GCK | c.*601A>T (n.*601A>T) c.603A>T (p.Ala201=) n.1089A>T c.606A>T (p.Ala202=) c.600A>T (p.Ala200=) c.552A>T (p.Ala184=) |