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.44150912C= | CA1703636402 | GCK | c.*481+44G= (n.*481+44G=) c.483+44G= (n.483+44G=) n.969+44G= c.486+44G= (n.486+44G=) c.480+44G= (n.480+44G=) c.432+44G= (n.432+44G=) | |
7 | g.44150912C>T | CA157918078 | GCK | c.*481+44G>A (n.*481+44G>A) c.483+44G>A (n.483+44G>A) n.969+44G>A c.486+44G>A (n.486+44G>A) c.480+44G>A (n.480+44G>A) c.432+44G>A (n.432+44G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150913_44150914delinsTG | CA1703636403 | GCK | c.*481+42_*481+43delinsCA (n.*481+42_*481+43delinsCA) c.483+42_483+43delinsCA (n.483+42_483+43delinsCA) n.969+42_969+43delinsCA c.486+42_486+43delinsCA (n.486+42_486+43delinsCA) c.480+42_480+43delinsCA (n.480+42_480+43delinsCA) c.432+42_432+43delinsCA (n.432+42_432+43delinsCA) | |
7 | g.44150914del | CA4239615 | GCK | c.*481+42del (n.*481+42del) c.483+42del (n.483+42del) n.969+42del c.486+42del (n.486+42del) c.480+42del (n.480+42del) c.432+42del (n.432+42del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150914G>A | CA573798195 | GCK | c.*481+42C>T (n.*481+42C>T) c.483+42C>T (n.483+42C>T) n.969+42C>T c.486+42C>T (n.486+42C>T) c.480+42C>T (n.480+42C>T) c.432+42C>T (n.432+42C>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44150914G>C | CA4239616 | GCK | c.*481+42C>G (n.*481+42C>G) c.483+42C>G (n.483+42C>G) n.969+42C>G c.486+42C>G (n.486+42C>G) c.480+42C>G (n.480+42C>G) c.432+42C>G (n.432+42C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150914G= | CA1703636404 | GCK | c.*481+42C= (n.*481+42C=) c.483+42C= (n.483+42C=) n.969+42C= c.486+42C= (n.486+42C=) c.480+42C= (n.480+42C=) c.432+42C= (n.432+42C=) | |
7 | g.44150916G>A | CA2682575104 | GCK | c.*481+40C>T (n.*481+40C>T) c.483+40C>T (n.483+40C>T) n.969+40C>T c.486+40C>T (n.486+40C>T) c.480+40C>T (n.480+40C>T) c.432+40C>T (n.432+40C>T) | gnomAD v4 |
7 | g.44150916G>C | CA2682575105 | GCK | c.*481+40C>G (n.*481+40C>G) c.483+40C>G (n.483+40C>G) n.969+40C>G c.486+40C>G (n.486+40C>G) c.480+40C>G (n.480+40C>G) c.432+40C>G (n.432+40C>G) | gnomAD v4 |
7 | g.44150917C>T | CA2682575107 | GCK | c.*481+39G>A (n.*481+39G>A) c.483+39G>A (n.483+39G>A) n.969+39G>A c.486+39G>A (n.486+39G>A) c.480+39G>A (n.480+39G>A) c.432+39G>A (n.432+39G>A) | gnomAD v4 |
7 | g.44150918C= | CA1703636405 | GCK | c.*481+38G= (n.*481+38G=) c.483+38G= (n.483+38G=) n.969+38G= c.486+38G= (n.486+38G=) c.480+38G= (n.480+38G=) c.432+38G= (n.432+38G=) | |
7 | g.44150918C>T | CA573798196 | GCK | c.*481+38G>A (n.*481+38G>A) c.483+38G>A (n.483+38G>A) n.969+38G>A c.486+38G>A (n.486+38G>A) c.480+38G>A (n.480+38G>A) c.432+38G>A (n.432+38G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150920C= | CA1703636406 | GCK | c.*481+36G= (n.*481+36G=) c.483+36G= (n.483+36G=) n.969+36G= c.486+36G= (n.486+36G=) c.480+36G= (n.480+36G=) c.432+36G= (n.432+36G=) | |
7 | g.44150920C>T | CA4239617 | GCK | c.*481+36G>A (n.*481+36G>A) c.483+36G>A (n.483+36G>A) n.969+36G>A c.486+36G>A (n.486+36G>A) c.480+36G>A (n.480+36G>A) c.432+36G>A (n.432+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150921C= | CA1703636407 | GCK | c.*481+35G= (n.*481+35G=) c.483+35G= (n.483+35G=) n.969+35G= c.486+35G= (n.486+35G=) c.480+35G= (n.480+35G=) c.432+35G= (n.432+35G=) | |
7 | g.44150921C>G | CA573798199 | GCK | c.*481+35G>C (n.*481+35G>C) c.483+35G>C (n.483+35G>C) n.969+35G>C c.486+35G>C (n.486+35G>C) c.480+35G>C (n.480+35G>C) c.432+35G>C (n.432+35G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150921C>T | CA1100760651 | GCK | c.*481+35G>A (n.*481+35G>A) c.483+35G>A (n.483+35G>A) n.969+35G>A c.486+35G>A (n.486+35G>A) c.480+35G>A (n.480+35G>A) c.432+35G>A (n.432+35G>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44150923C= | CA1703636408 | GCK | c.*481+33G= (n.*481+33G=) c.483+33G= (n.483+33G=) n.969+33G= c.486+33G= (n.486+33G=) c.480+33G= (n.480+33G=) c.432+33G= (n.432+33G=) | |
7 | g.44150923C>T | CA4239618 | GCK | c.*481+33G>A (n.*481+33G>A) c.483+33G>A (n.483+33G>A) n.969+33G>A c.486+33G>A (n.486+33G>A) c.480+33G>A (n.480+33G>A) c.432+33G>A (n.432+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150925C>A | CA2775231370 | GCK | c.*481+31G>T (n.*481+31G>T) c.483+31G>T (n.483+31G>T) n.969+31G>T c.486+31G>T (n.486+31G>T) c.480+31G>T (n.480+31G>T) c.432+31G>T (n.432+31G>T) | |
7 | g.44150926A= | CA1703636409 | GCK | c.*481+30T= (n.*481+30T=) c.483+30T= (n.483+30T=) n.969+30T= c.486+30T= (n.486+30T=) c.480+30T= (n.480+30T=) c.432+30T= (n.432+30T=) | |
7 | g.44150926A>G | CA4239619 | GCK | c.*481+30T>C (n.*481+30T>C) c.483+30T>C (n.483+30T>C) n.969+30T>C c.486+30T>C (n.486+30T>C) c.480+30T>C (n.480+30T>C) c.432+30T>C (n.432+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150928C>T | CA2682575117 | GCK | c.*481+28G>A (n.*481+28G>A) c.483+28G>A (n.483+28G>A) n.969+28G>A c.486+28G>A (n.486+28G>A) c.480+28G>A (n.480+28G>A) c.432+28G>A (n.432+28G>A) | gnomAD v4 |
7 | g.44150930G= | CA1703636410 | GCK | c.*481+26C= (n.*481+26C=) c.483+26C= (n.483+26C=) n.969+26C= c.486+26C= (n.486+26C=) c.480+26C= (n.480+26C=) c.432+26C= (n.432+26C=) | |
7 | g.44150930G>T | CA4239620 | GCK | c.*481+26C>A (n.*481+26C>A) c.483+26C>A (n.483+26C>A) n.969+26C>A c.486+26C>A (n.486+26C>A) c.480+26C>A (n.480+26C>A) c.432+26C>A (n.432+26C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150931C= | CA1703636411 | GCK | c.*481+25G= (n.*481+25G=) c.483+25G= (n.483+25G=) n.969+25G= c.486+25G= (n.486+25G=) c.480+25G= (n.480+25G=) c.432+25G= (n.432+25G=) | |
7 | g.44150931C>T | CA4239621 | GCK | c.*481+25G>A (n.*481+25G>A) c.483+25G>A (n.483+25G>A) n.969+25G>A c.486+25G>A (n.486+25G>A) c.480+25G>A (n.480+25G>A) c.432+25G>A (n.432+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150932C= | CA1703636412 | GCK | c.*481+24G= (n.*481+24G=) c.483+24G= (n.483+24G=) n.969+24G= c.486+24G= (n.486+24G=) c.480+24G= (n.480+24G=) c.432+24G= (n.432+24G=) | |
7 | g.44150932C>T | CA157918102 | GCK | c.*481+24G>A (n.*481+24G>A) c.483+24G>A (n.483+24G>A) n.969+24G>A c.486+24G>A (n.486+24G>A) c.480+24G>A (n.480+24G>A) c.432+24G>A (n.432+24G>A) | dbSNP |
7 | g.44150933T>G | CA2775231373 | GCK | c.*481+23A>C (n.*481+23A>C) c.483+23A>C (n.483+23A>C) n.969+23A>C c.486+23A>C (n.486+23A>C) c.480+23A>C (n.480+23A>C) c.432+23A>C (n.432+23A>C) | |
7 | g.44150936T>A | CA2682575125 | GCK | c.*481+20A>T (n.*481+20A>T) c.483+20A>T (n.483+20A>T) n.969+20A>T c.486+20A>T (n.486+20A>T) c.480+20A>T (n.480+20A>T) c.432+20A>T (n.432+20A>T) | gnomAD v4 |
7 | g.44150936T>C | CA838781547 | GCK | c.*481+20A>G (n.*481+20A>G) c.483+20A>G (n.483+20A>G) n.969+20A>G c.486+20A>G (n.486+20A>G) c.480+20A>G (n.480+20A>G) c.432+20A>G (n.432+20A>G) | dbSNP gnomAD v4 |
7 | g.44150936T= | CA1703636413 | GCK | c.*481+20A= (n.*481+20A=) c.483+20A= (n.483+20A=) n.969+20A= c.486+20A= (n.486+20A=) c.480+20A= (n.480+20A=) c.432+20A= (n.432+20A=) | |
7 | g.44150936_44150937delinsTG | CA1703636414 | GCK | c.*481+19_*481+20delinsCA (n.*481+19_*481+20delinsCA) c.483+19_483+20delinsCA (n.483+19_483+20delinsCA) n.969+19_969+20delinsCA c.486+19_486+20delinsCA (n.486+19_486+20delinsCA) c.480+19_480+20delinsCA (n.480+19_480+20delinsCA) c.432+19_432+20delinsCA (n.432+19_432+20delinsCA) | |
7 | g.44150937del | CA573798210 | GCK | c.*481+19del (n.*481+19del) c.483+19del (n.483+19del) n.969+19del c.486+19del (n.486+19del) c.480+19del (n.480+19del) c.432+19del (n.432+19del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150937G>C | CA2714458026 | GCK | c.*481+19C>G (n.*481+19C>G) c.483+19C>G (n.483+19C>G) n.969+19C>G c.486+19C>G (n.486+19C>G) c.480+19C>G (n.480+19C>G) c.432+19C>G (n.432+19C>G) | dbSNP |
7 | g.44150937dup | CA2682575134 | GCK | c.*481+19dup (n.*481+19dup) c.483+19dup (n.483+19dup) n.969+19dup c.486+19dup (n.486+19dup) c.480+19dup (n.480+19dup) c.432+19dup (n.432+19dup) | gnomAD v4 |
7 | g.44150937_44150938insGC | CA2682575136 | GCK | c.*481+18_*481+19insGC (n.*481+18_*481+19insGC) c.483+18_483+19insGC (n.483+18_483+19insGC) n.969+18_969+19insGC c.486+18_486+19insGC (n.486+18_486+19insGC) c.480+18_480+19insGC (n.480+18_480+19insGC) c.432+18_432+19insGC (n.432+18_432+19insGC) | gnomAD v4 |
7 | g.44150937_44150938insGCC | CA2682575138 | GCK | c.*481+18_*481+19insGGC (n.*481+18_*481+19insGGC) c.483+18_483+19insGGC (n.483+18_483+19insGGC) n.969+18_969+19insGGC c.486+18_486+19insGGC (n.486+18_486+19insGGC) c.480+18_480+19insGGC (n.480+18_480+19insGGC) c.432+18_432+19insGGC (n.432+18_432+19insGGC) | gnomAD v4 |
7 | g.44150937_44150938insGCCCCC | CA2775231374 | GCK | c.*481+18_*481+19insGGGGGC (n.*481+18_*481+19insGGGGGC) c.483+18_483+19insGGGGGC (n.483+18_483+19insGGGGGC) n.969+18_969+19insGGGGGC c.486+18_486+19insGGGGGC (n.486+18_486+19insGGGGGC) c.480+18_480+19insGGGGGC (n.480+18_480+19insGGGGGC) c.432+18_432+19insGGGGGC (n.432+18_432+19insGGGGGC) | |
7 | g.44150938C>T | CA2578878412 | GCK | c.*481+18G>A (n.*481+18G>A) c.483+18G>A (n.483+18G>A) n.969+18G>A c.486+18G>A (n.486+18G>A) c.480+18G>A (n.480+18G>A) c.432+18G>A (n.432+18G>A) | dbSNP |
7 | g.44150939_44150954delinsCCCTCCACCCGGCCCA | CA1703636415 | GCK | c.*481+2_*481+17delinsTGGGCCGGGTGGAGGG (n.*481+2_*481+17delinsTGGGCCGGGTGGAGGG) c.483+2_483+17delinsTGGGCCGGGTGGAGGG (n.483+2_483+17delinsTGGGCCGGGTGGAGGG) n.969+2_969+17delinsTGGGCCGGGTGGAGGG c.486+2_486+17delinsTGGGCCGGGTGGAGGG (n.486+2_486+17delinsTGGGCCGGGTGGAGGG) c.480+2_480+17delinsTGGGCCGGGTGGAGGG (n.480+2_480+17delinsTGGGCCGGGTGGAGGG) c.432+2_432+17delinsTGGGCCGGGTGGAGGG (n.432+2_432+17delinsTGGGCCGGGTGGAGGG) | |
7 | g.44150940C>A | CA2682575145 | GCK | c.*481+16G>T (n.*481+16G>T) c.483+16G>T (n.483+16G>T) n.969+16G>T c.486+16G>T (n.486+16G>T) c.480+16G>T (n.480+16G>T) c.432+16G>T (n.432+16G>T) | gnomAD v4 |
7 | g.44150943_44150957del | CA915944920 | GCK | c.*481+2_*481+16del c.483+2_483+16del n.969+2_969+16del c.486+2_486+16del c.480+2_480+16del c.432+2_432+16del | ClinVar dbSNP gnomAD v4 |
7 | g.44150941C>A | CA1703636416 | GCK | c.*481+15G>T (n.*481+15G>T) c.483+15G>T (n.483+15G>T) n.969+15G>T c.486+15G>T (n.486+15G>T) c.480+15G>T (n.480+15G>T) c.432+15G>T (n.432+15G>T) | dbSNP |
7 | g.44150941C= | CA1703636417 | GCK | c.*481+15G= (n.*481+15G=) c.483+15G= (n.483+15G=) n.969+15G= c.486+15G= (n.486+15G=) c.480+15G= (n.480+15G=) c.432+15G= (n.432+15G=) | |
7 | g.44150941C>T | CA2682575147 | GCK | c.*481+15G>A (n.*481+15G>A) c.483+15G>A (n.483+15G>A) n.969+15G>A c.486+15G>A (n.486+15G>A) c.480+15G>A (n.480+15G>A) c.432+15G>A (n.432+15G>A) | gnomAD v4 |
7 | g.44150941_44150942delinsCT | CA1703636418 | GCK | c.*481+14_*481+15delinsAG (n.*481+14_*481+15delinsAG) c.483+14_483+15delinsAG (n.483+14_483+15delinsAG) n.969+14_969+15delinsAG c.486+14_486+15delinsAG (n.486+14_486+15delinsAG) c.480+14_480+15delinsAG (n.480+14_480+15delinsAG) c.432+14_432+15delinsAG (n.432+14_432+15delinsAG) | |
7 | g.44150942del | CA573798213 | GCK | c.*481+14del (n.*481+14del) c.483+14del (n.483+14del) n.969+14del c.486+14del (n.486+14del) c.480+14del (n.480+14del) c.432+14del (n.432+14del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44150942T>A | CA2682575155 | GCK | c.*481+14A>T (n.*481+14A>T) c.483+14A>T (n.483+14A>T) n.969+14A>T c.486+14A>T (n.486+14A>T) c.480+14A>T (n.480+14A>T) c.432+14A>T (n.432+14A>T) | gnomAD v4 |
7 | g.44150942T>C | CA4239622 | GCK | c.*481+14A>G (n.*481+14A>G) c.483+14A>G (n.483+14A>G) n.969+14A>G c.486+14A>G (n.486+14A>G) c.480+14A>G (n.480+14A>G) c.432+14A>G (n.432+14A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150942T= | CA1703636419 | GCK | c.*481+14A= (n.*481+14A=) c.483+14A= (n.483+14A=) n.969+14A= c.486+14A= (n.486+14A=) c.480+14A= (n.480+14A=) c.432+14A= (n.432+14A=) | |
7 | g.44150943C= | CA1703636420 | GCK | c.*481+13G= (n.*481+13G=) c.483+13G= (n.483+13G=) n.969+13G= c.486+13G= (n.486+13G=) c.480+13G= (n.480+13G=) c.432+13G= (n.432+13G=) | |
7 | g.44150943C>T | CA1703636421 | GCK | c.*481+13G>A (n.*481+13G>A) c.483+13G>A (n.483+13G>A) n.969+13G>A c.486+13G>A (n.486+13G>A) c.480+13G>A (n.480+13G>A) c.432+13G>A (n.432+13G>A) | dbSNP gnomAD v4 |
7 | g.44150944C= | CA1703636422 | GCK | c.*481+12G= (n.*481+12G=) c.483+12G= (n.483+12G=) n.969+12G= c.486+12G= (n.486+12G=) c.480+12G= (n.480+12G=) c.432+12G= (n.432+12G=) | |
7 | g.44150944C>T | CA4239623 | GCK | c.*481+12G>A (n.*481+12G>A) c.483+12G>A (n.483+12G>A) n.969+12G>A c.486+12G>A (n.486+12G>A) c.480+12G>A (n.480+12G>A) c.432+12G>A (n.432+12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150945A= | CA1703636423 | GCK | c.*481+11T= (n.*481+11T=) c.483+11T= (n.483+11T=) n.969+11T= c.486+11T= (n.486+11T=) c.480+11T= (n.480+11T=) c.432+11T= (n.432+11T=) | |
7 | g.44150945A>C | CA1100760665 | GCK | c.*481+11T>G (n.*481+11T>G) c.483+11T>G (n.483+11T>G) n.969+11T>G c.486+11T>G (n.486+11T>G) c.480+11T>G (n.480+11T>G) c.432+11T>G (n.432+11T>G) | gnomAD v3 gnomAD v4 |
7 | g.44150945A>G | CA4239624 | GCK | c.*481+11T>C (n.*481+11T>C) c.483+11T>C (n.483+11T>C) n.969+11T>C c.486+11T>C (n.486+11T>C) c.480+11T>C (n.480+11T>C) c.432+11T>C (n.432+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150945_44150954del | CA2695202949 | GCK | c.*481+2_*481+11del (n.*481+2_*481+11del) c.483+2_483+11del (n.483+2_483+11del) n.969+2_969+11del c.486+2_486+11del (n.486+2_486+11del) c.480+2_480+11del (n.480+2_480+11del) c.432+2_432+11del (n.432+2_432+11del) | |
7 | g.44150946C= | CA1703636424 | GCK | c.*481+10G= (n.*481+10G=) c.483+10G= (n.483+10G=) n.969+10G= c.486+10G= (n.486+10G=) c.480+10G= (n.480+10G=) c.432+10G= (n.432+10G=) | |
7 | g.44150946C>T | CA645564882 | GCK | c.*481+10G>A (n.*481+10G>A) c.483+10G>A (n.483+10G>A) n.969+10G>A c.486+10G>A (n.486+10G>A) c.480+10G>A (n.480+10G>A) c.432+10G>A (n.432+10G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150947C= | CA1703636425 | GCK | c.*481+9G= (n.*481+9G=) c.483+9G= (n.483+9G=) n.969+9G= c.486+9G= (n.486+9G=) c.480+9G= (n.480+9G=) c.432+9G= (n.432+9G=) | |
7 | g.44150947C>T | CA1703636426 | GCK | c.*481+9G>A (n.*481+9G>A) c.483+9G>A (n.483+9G>A) n.969+9G>A c.486+9G>A (n.486+9G>A) c.480+9G>A (n.480+9G>A) c.432+9G>A (n.432+9G>A) | dbSNP |
7 | g.44150948C>A | CA2775231377 | GCK | c.*481+8G>T (n.*481+8G>T) c.483+8G>T (n.483+8G>T) n.969+8G>T c.486+8G>T (n.486+8G>T) c.480+8G>T (n.480+8G>T) c.432+8G>T (n.432+8G>T) | |
7 | g.44150948C= | CA1703636428 | GCK | c.*481+8G= (n.*481+8G=) c.483+8G= (n.483+8G=) n.969+8G= c.486+8G= (n.486+8G=) c.480+8G= (n.480+8G=) c.432+8G= (n.432+8G=) | |
7 | g.44150948C>G | CA1703636427 | GCK | c.*481+8G>C (n.*481+8G>C) c.483+8G>C (n.483+8G>C) n.969+8G>C c.486+8G>C (n.486+8G>C) c.480+8G>C (n.480+8G>C) c.432+8G>C (n.432+8G>C) | dbSNP |
7 | g.44150948C>T | CA4239625 | GCK | c.*481+8G>A (n.*481+8G>A) c.483+8G>A (n.483+8G>A) n.969+8G>A c.486+8G>A (n.486+8G>A) c.480+8G>A (n.480+8G>A) c.432+8G>A (n.432+8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150949_44150951dup | CA2682575176 | GCK | c.*481+6_*481+8dup (n.*481+6_*481+8dup) c.483+6_483+8dup (n.483+6_483+8dup) n.969+6_969+8dup c.486+6_486+8dup (n.486+6_486+8dup) c.480+6_480+8dup (n.480+6_480+8dup) c.432+6_432+8dup (n.432+6_432+8dup) | gnomAD v4 |
7 | g.44150949G>A | CA4239626 | GCK | c.*481+7C>T (n.*481+7C>T) c.483+7C>T (n.483+7C>T) n.969+7C>T c.486+7C>T (n.486+7C>T) c.480+7C>T (n.480+7C>T) c.432+7C>T (n.432+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150949G>C | CA1100760687 | GCK | c.*481+7C>G (n.*481+7C>G) c.483+7C>G (n.483+7C>G) n.969+7C>G c.486+7C>G (n.486+7C>G) c.480+7C>G (n.480+7C>G) c.432+7C>G (n.432+7C>G) | gnomAD v3 gnomAD v4 |
7 | g.44150949G= | CA1703636429 | GCK | c.*481+7C= (n.*481+7C=) c.483+7C= (n.483+7C=) n.969+7C= c.486+7C= (n.486+7C=) c.480+7C= (n.480+7C=) c.432+7C= (n.432+7C=) | |
7 | g.44150949_44150950del | CA2682575188 | GCK | c.*481+6_*481+7del (n.*481+6_*481+7del) c.483+6_483+7del (n.483+6_483+7del) n.969+6_969+7del c.486+6_486+7del (n.486+6_486+7del) c.480+6_480+7del (n.480+6_480+7del) c.432+6_432+7del (n.432+6_432+7del) | gnomAD v4 |
7 | g.44150950G>C | CA4239627 | GCK | c.*481+6C>G (n.*481+6C>G) c.483+6C>G (n.483+6C>G) n.969+6C>G c.486+6C>G (n.486+6C>G) c.480+6C>G (n.480+6C>G) c.432+6C>G (n.432+6C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150950G= | CA1703636430 | GCK | c.*481+6C= (n.*481+6C=) c.483+6C= (n.483+6C=) n.969+6C= c.486+6C= (n.486+6C=) c.480+6C= (n.480+6C=) c.432+6C= (n.432+6C=) | |
7 | g.44150953C= | CA1703636431 | GCK | c.*481+3G= (n.*481+3G=) c.483+3G= (n.483+3G=) n.969+3G= c.486+3G= (n.486+3G=) c.480+3G= (n.480+3G=) c.432+3G= (n.432+3G=) | |
7 | g.44150953C>T | CA573798233 | GCK | c.*481+3G>A (n.*481+3G>A) c.483+3G>A (n.483+3G>A) n.969+3G>A c.486+3G>A (n.486+3G>A) c.480+3G>A (n.480+3G>A) c.432+3G>A (n.432+3G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150954_44150955del | CA2695202950 | GCK | c.*481+2_*481+3del (n.*481+2_*481+3del) c.483+2_483+3del (n.483+2_483+3del) n.969+2_969+3del c.486+2_486+3del (n.486+2_486+3del) c.480+2_480+3del (n.480+2_480+3del) c.432+2_432+3del (n.432+2_432+3del) | |
7 | g.44150954A= | CA1703636432 | GCK | c.*481+2T= (n.*481+2T=) c.483+2T= (n.483+2T=) n.969+2T= c.486+2T= (n.486+2T=) c.480+2T= (n.480+2T=) c.432+2T= (n.432+2T=) | |
7 | g.44150954A>C | CA367401820 | GCK | c.*481+2T>G (n.*481+2T>G) c.483+2T>G (n.483+2T>G) n.969+2T>G c.486+2T>G (n.486+2T>G) c.480+2T>G (n.480+2T>G) c.432+2T>G (n.432+2T>G) | gnomAD v3 gnomAD v4 |
7 | g.44150954A>G | CA367401817 | GCK | c.*481+2T>C (n.*481+2T>C) c.483+2T>C (n.483+2T>C) n.969+2T>C c.486+2T>C (n.486+2T>C) c.480+2T>C (n.480+2T>C) c.432+2T>C (n.432+2T>C) | ClinVar dbSNP gnomAD v4 |
7 | g.44150954A>T | CA367401819 | GCK | c.*481+2T>A (n.*481+2T>A) c.483+2T>A (n.483+2T>A) n.969+2T>A c.486+2T>A (n.486+2T>A) c.480+2T>A (n.480+2T>A) c.432+2T>A (n.432+2T>A) | |
7 | g.44150955C>A | CA367401822 | GCK | c.*481+1G>T (n.*481+1G>T) c.483+1G>T (n.483+1G>T) n.969+1G>T c.486+1G>T (n.486+1G>T) c.480+1G>T (n.480+1G>T) c.432+1G>T (n.432+1G>T) | |
7 | g.44150955C>G | CA367401823 | GCK | c.*481+1G>C (n.*481+1G>C) c.483+1G>C (n.483+1G>C) n.969+1G>C c.486+1G>C (n.486+1G>C) c.480+1G>C (n.480+1G>C) c.432+1G>C (n.432+1G>C) | |
7 | g.44150955C>T | CA367401825 | GCK | c.*481+1G>A (n.*481+1G>A) c.483+1G>A (n.483+1G>A) n.969+1G>A c.486+1G>A (n.486+1G>A) c.480+1G>A (n.480+1G>A) c.432+1G>A (n.432+1G>A) | ClinVar |
7 | g.44150956C>A | CA367401826 | GCK | c.*481G>T (n.*481G>T) c.483G>T (p.Lys161Asn) n.969G>T c.486G>T (p.Lys162Asn) c.480G>T (p.Lys160Asn) c.432G>T (p.Lys144Asn) | |
7 | g.44150956C= | CA1703636433 | GCK | c.*481G= (n.*481G=) c.483G= (p.Lys161=) n.969G= c.486G= (p.Lys162=) c.480G= (p.Lys160=) c.432G= (p.Lys144=) | |
7 | g.44150956C>G | CA367401828 | GCK | c.*481G>C (n.*481G>C) c.483G>C (p.Lys161Asn) n.969G>C c.486G>C (p.Lys162Asn) c.480G>C (p.Lys160Asn) c.432G>C (p.Lys144Asn) | |
7 | g.44150956C>T | CA213792 | GCK | c.*481G>A (n.*481G>A) c.483G>A (p.Lys161=) n.969G>A c.486G>A (p.Lys162=) c.480G>A (p.Lys160=) c.432G>A (p.Lys144=) | ClinVar dbSNP |
7 | g.44150957T>A | CA367401830 | GCK | c.*480A>T (n.*480A>T) c.482A>T (p.Lys161Met) n.968A>T c.485A>T (p.Lys162Met) c.479A>T (p.Lys160Met) c.431A>T (p.Lys144Met) | |
7 | g.44150957T>C | CA367401831 | GCK | c.*480A>G (n.*480A>G) c.482A>G (p.Lys161Arg) n.968A>G c.485A>G (p.Lys162Arg) c.479A>G (p.Lys160Arg) c.431A>G (p.Lys144Arg) | ClinVar |
7 | g.44150957T>G | CA367401832 | GCK | c.*480A>C (n.*480A>C) c.482A>C (p.Lys161Thr) n.968A>C c.485A>C (p.Lys162Thr) c.479A>C (p.Lys160Thr) c.431A>C (p.Lys144Thr) | |
7 | g.44150958_44150960dup | CA2695202952 | GCK | c.*478_*480dup (n.*478_*480dup) c.480_482dup (p.Asp160_Lys161insAsn) n.966_968dup c.483_485dup (p.Asp161_Lys162insAsn) c.477_479dup (p.Asp159_Lys160insAsn) c.429_431dup (p.Asp143_Lys144insAsn) | |
7 | g.44150958T>A | CA367401837 | GCK | c.*479A>T (n.*479A>T) c.481A>T (p.Lys161Ter) n.967A>T c.484A>T (p.Lys162Ter) c.478A>T (p.Lys160Ter) c.430A>T (p.Lys144Ter) | ClinVar |
7 | g.44150958T>C | CA367401836 | GCK | c.*479A>G (n.*479A>G) c.481A>G (p.Lys161Glu) n.967A>G c.484A>G (p.Lys162Glu) c.478A>G (p.Lys160Glu) c.430A>G (p.Lys144Glu) | |
7 | g.44150958T>G | CA367401834 | GCK | c.*479A>C (n.*479A>C) c.481A>C (p.Lys161Gln) n.967A>C c.484A>C (p.Lys162Gln) c.478A>C (p.Lys160Gln) c.430A>C (p.Lys144Gln) | |
7 | g.44150959A= | CA1703636434 | GCK | c.*478T= (n.*478T=) c.480T= (p.Asp160=) n.966T= c.483T= (p.Asp161=) c.477T= (p.Asp159=) c.429T= (p.Asp143=) | |
7 | g.44150959A>C | CA367401839 | GCK | c.*478T>G (n.*478T>G) c.480T>G (p.Asp160Glu) n.966T>G c.483T>G (p.Asp161Glu) c.477T>G (p.Asp159Glu) c.429T>G (p.Asp143Glu) | |
7 | g.44150959A>G | CA454609688 | GCK | c.*478T>C (n.*478T>C) c.480T>C (p.Asp160=) n.966T>C c.483T>C (p.Asp161=) c.477T>C (p.Asp159=) c.429T>C (p.Asp143=) | dbSNP gnomAD v4 |
7 | g.44150959A>T | CA367401841 | GCK | c.*478T>A (n.*478T>A) c.480T>A (p.Asp160Glu) n.966T>A c.483T>A (p.Asp161Glu) c.477T>A (p.Asp159Glu) c.429T>A (p.Asp143Glu) | |
7 | g.44150960T>A | CA367401842 | GCK | c.*477A>T (n.*477A>T) c.479A>T (p.Asp160Val) n.965A>T c.482A>T (p.Asp161Val) c.476A>T (p.Asp159Val) c.428A>T (p.Asp143Val) | |
7 | g.44150960T>C | CA367401844 | GCK | c.*477A>G (n.*477A>G) c.479A>G (p.Asp160Gly) n.965A>G c.482A>G (p.Asp161Gly) c.476A>G (p.Asp159Gly) c.428A>G (p.Asp143Gly) | |
7 | g.44150960T>G | CA367401845 | GCK | c.*477A>C (n.*477A>C) c.479A>C (p.Asp160Ala) n.965A>C c.482A>C (p.Asp161Ala) c.476A>C (p.Asp159Ala) c.428A>C (p.Asp143Ala) | |
7 | g.44150961C>A | CA367401847 | GCK | c.*476G>T (n.*476G>T) c.478G>T (p.Asp160Tyr) n.964G>T c.481G>T (p.Asp161Tyr) c.475G>T (p.Asp159Tyr) c.427G>T (p.Asp143Tyr) | gnomAD v4 |
7 | g.44150961C= | CA1703636435 | GCK | c.*476G= (n.*476G=) c.478G= (p.Asp160=) n.964G= c.481G= (p.Asp161=) c.475G= (p.Asp159=) c.427G= (p.Asp143=) | |
7 | g.44150961C>G | CA367401848 | GCK | c.*476G>C (n.*476G>C) c.478G>C (p.Asp160His) n.964G>C c.481G>C (p.Asp161His) c.475G>C (p.Asp159His) c.427G>C (p.Asp143His) | ClinVar |
7 | g.44150961C>T | CA367401849 | GCK | c.*476G>A (n.*476G>A) c.478G>A (p.Asp160Asn) n.964G>A c.481G>A (p.Asp161Asn) c.475G>A (p.Asp159Asn) c.427G>A (p.Asp143Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150962G>A | CA454609695 | GCK | c.*475C>T (n.*475C>T) c.477C>T (p.Ile159=) n.963C>T c.480C>T (p.Ile160=) c.474C>T (p.Ile158=) c.426C>T (p.Ile142=) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150962G>C | CA367401851 | GCK | c.*475C>G (n.*475C>G) c.477C>G (p.Ile159Met) n.963C>G c.480C>G (p.Ile160Met) c.474C>G (p.Ile158Met) c.426C>G (p.Ile142Met) | ClinVar dbSNP |
7 | g.44150962G= | CA1703636436 | GCK | c.*475C= (n.*475C=) c.477C= (p.Ile159=) n.963C= c.480C= (p.Ile160=) c.474C= (p.Ile158=) c.426C= (p.Ile142=) | |
7 | g.44150962G>T | CA454609696 | GCK | c.*475C>A (n.*475C>A) c.477C>A (p.Ile159=) n.963C>A c.480C>A (p.Ile160=) c.474C>A (p.Ile158=) c.426C>A (p.Ile142=) | dbSNP gnomAD v4 |
7 | g.44150963A>C | CA367401853 | GCK | c.*474T>G (n.*474T>G) c.476T>G (p.Ile159Ser) n.962T>G c.479T>G (p.Ile160Ser) c.473T>G (p.Ile158Ser) c.425T>G (p.Ile142Ser) | |
7 | g.44150963A>G | CA367401855 | GCK | c.*474T>C (n.*474T>C) c.476T>C (p.Ile159Thr) n.962T>C c.479T>C (p.Ile160Thr) c.473T>C (p.Ile158Thr) c.425T>C (p.Ile142Thr) | ClinVar |
7 | g.44150963A>T | CA367401856 | GCK | c.*474T>A (n.*474T>A) c.476T>A (p.Ile159Asn) n.962T>A c.479T>A (p.Ile160Asn) c.473T>A (p.Ile158Asn) c.425T>A (p.Ile142Asn) | ClinVar |
7 | g.44150964T>A | CA367401858 | GCK | c.*473A>T (n.*473A>T) c.475A>T (p.Ile159Phe) n.961A>T c.478A>T (p.Ile160Phe) c.472A>T (p.Ile158Phe) c.424A>T (p.Ile142Phe) | |
7 | g.44150964T>C | CA367401860 | GCK | c.*473A>G (n.*473A>G) c.475A>G (p.Ile159Val) n.961A>G c.478A>G (p.Ile160Val) c.472A>G (p.Ile158Val) c.424A>G (p.Ile142Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44150964T>G | CA367401857 | GCK | c.*473A>C (n.*473A>C) c.475A>C (p.Ile159Leu) n.961A>C c.478A>C (p.Ile160Leu) c.472A>C (p.Ile158Leu) c.424A>C (p.Ile142Leu) | |
7 | g.44150964T= | CA1703636437 | GCK | c.*473A= (n.*473A=) c.475A= (p.Ile159=) n.961A= c.478A= (p.Ile160=) c.472A= (p.Ile158=) c.424A= (p.Ile142=) | |
7 | g.44150965G>A | CA454609702 | GCK | c.*472C>T (n.*472C>T) c.474C>T (p.Asp158=) n.960C>T c.477C>T (p.Asp159=) c.471C>T (p.Asp157=) c.423C>T (p.Asp141=) | |
7 | g.44150965G>C | CA367401862 | GCK | c.*472C>G (n.*472C>G) c.474C>G (p.Asp158Glu) n.960C>G c.477C>G (p.Asp159Glu) c.471C>G (p.Asp157Glu) c.423C>G (p.Asp141Glu) | |
7 | g.44150965G= | CA1703636438 | GCK | c.*472C= (n.*472C=) c.474C= (p.Asp158=) n.960C= c.477C= (p.Asp159=) c.471C= (p.Asp157=) c.423C= (p.Asp141=) | |
7 | g.44150965G>T | CA367401863 | GCK | c.*472C>A (n.*472C>A) c.474C>A (p.Asp158Glu) n.960C>A c.477C>A (p.Asp159Glu) c.471C>A (p.Asp157Glu) c.423C>A (p.Asp141Glu) | dbSNP gnomAD v4 |
7 | g.44150966T>A | CA367401865 | GCK | c.*471A>T (n.*471A>T) c.473A>T (p.Asp158Val) n.959A>T c.476A>T (p.Asp159Val) c.470A>T (p.Asp157Val) c.422A>T (p.Asp141Val) | |
7 | g.44150966T>C | CA367401866 | GCK | c.*471A>G (n.*471A>G) c.473A>G (p.Asp158Gly) n.959A>G c.476A>G (p.Asp159Gly) c.470A>G (p.Asp157Gly) c.422A>G (p.Asp141Gly) | |
7 | g.44150966T>G | CA367401867 | GCK | c.*471A>C (n.*471A>C) c.473A>C (p.Asp158Ala) n.959A>C c.476A>C (p.Asp159Ala) c.470A>C (p.Asp157Ala) c.422A>C (p.Asp141Ala) | |
7 | g.44150967C>A | CA367401869 | GCK | c.*470G>T (n.*470G>T) c.472G>T (p.Asp158Tyr) n.958G>T c.475G>T (p.Asp159Tyr) c.469G>T (p.Asp157Tyr) c.421G>T (p.Asp141Tyr) | gnomAD v4 |
7 | g.44150967C>G | CA367401871 | GCK | c.*470G>C (n.*470G>C) c.472G>C (p.Asp158His) n.958G>C c.475G>C (p.Asp159His) c.469G>C (p.Asp157His) c.421G>C (p.Asp141His) | gnomAD v4 |
7 | g.44150967C>T | CA367401872 | GCK | c.*470G>A (n.*470G>A) c.472G>A (p.Asp158Asn) n.958G>A c.475G>A (p.Asp159Asn) c.469G>A (p.Asp157Asn) c.421G>A (p.Asp141Asn) | |
7 | g.44150968T>A | CA367401874 | GCK | c.*469A>T (n.*469A>T) c.471A>T (p.Glu157Asp) n.957A>T c.474A>T (p.Glu158Asp) c.468A>T (p.Glu156Asp) c.420A>T (p.Glu140Asp) | |
7 | g.44150968T>C | CA454609707 | GCK | c.*469A>G (n.*469A>G) c.471A>G (p.Glu157=) n.957A>G c.474A>G (p.Glu158=) c.468A>G (p.Glu156=) c.420A>G (p.Glu140=) | |
7 | g.44150968T>G | CA367401875 | GCK | c.*469A>C (n.*469A>C) c.471A>C (p.Glu157Asp) n.957A>C c.474A>C (p.Glu158Asp) c.468A>C (p.Glu156Asp) c.420A>C (p.Glu140Asp) | |
7 | g.44150969T>A | CA367401876 | GCK | c.*468A>T (n.*468A>T) c.470A>T (p.Glu157Val) n.956A>T c.473A>T (p.Glu158Val) c.467A>T (p.Glu156Val) c.419A>T (p.Glu140Val) | |
7 | g.44150969T>C | CA367401877 | GCK | c.*468A>G (n.*468A>G) c.470A>G (p.Glu157Gly) n.956A>G c.473A>G (p.Glu158Gly) c.467A>G (p.Glu156Gly) c.419A>G (p.Glu140Gly) | |
7 | g.44150969T>G | CA367401879 | GCK | c.*468A>C (n.*468A>C) c.470A>C (p.Glu157Ala) n.956A>C c.473A>C (p.Glu158Ala) c.467A>C (p.Glu156Ala) c.419A>C (p.Glu140Ala) | |
7 | g.44150970C>A | CA367401883 | GCK | c.*467G>T (n.*467G>T) c.469G>T (p.Glu157Ter) n.955G>T c.472G>T (p.Glu158Ter) c.466G>T (p.Glu156Ter) c.418G>T (p.Glu140Ter) | ClinVar |
7 | g.44150970C= | CA1703636439 | GCK | c.*467G= (n.*467G=) c.469G= (p.Glu157=) n.955G= c.472G= (p.Glu158=) c.466G= (p.Glu156=) c.418G= (p.Glu140=) | |
7 | g.44150970C>G | CA367401882 | GCK | c.*467G>C (n.*467G>C) c.469G>C (p.Glu157Gln) n.955G>C c.472G>C (p.Glu158Gln) c.466G>C (p.Glu156Gln) c.418G>C (p.Glu140Gln) | |
7 | g.44150970C>T | CA367401880 | GCK | c.*467G>A (n.*467G>A) c.469G>A (p.Glu157Lys) n.955G>A c.472G>A (p.Glu158Lys) c.466G>A (p.Glu156Lys) c.418G>A (p.Glu140Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44150971del | CA2580077133 | GCK | c.*466del (n.*466del) c.468del (p.His156GlnfsTer?) n.954del c.471del (p.His157GlnfsTer?) c.465del (p.His155GlnfsTer?) c.417del (p.His139GlnfsTer?) | ClinVar |
7 | g.44150971G>A | CA4239628 | GCK | c.*466C>T (n.*466C>T) c.468C>T (p.His156=) n.954C>T c.471C>T (p.His157=) c.465C>T (p.His155=) c.417C>T (p.His139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44150971G>C | CA367401885 | GCK | c.*466C>G (n.*466C>G) c.468C>G (p.His156Gln) n.954C>G c.471C>G (p.His157Gln) c.465C>G (p.His155Gln) c.417C>G (p.His139Gln) | COSMIC COSMIC COSMIC |
7 | g.44150971G= | CA1703636440 | GCK | c.*466C= (n.*466C=) c.468C= (p.His156=) n.954C= c.471C= (p.His157=) c.465C= (p.His155=) c.417C= (p.His139=) | |
7 | g.44150971G>T | CA367401887 | GCK | c.*466C>A (n.*466C>A) c.468C>A (p.His156Gln) n.954C>A c.471C>A (p.His157Gln) c.465C>A (p.His155Gln) c.417C>A (p.His139Gln) | |
7 | g.44150972T>A | CA367401888 | GCK | c.*465A>T (n.*465A>T) c.467A>T (p.His156Leu) n.953A>T c.470A>T (p.His157Leu) c.464A>T (p.His155Leu) c.416A>T (p.His139Leu) | |
7 | g.44150972T>C | CA367401890 | GCK | c.*465A>G (n.*465A>G) c.467A>G (p.His156Arg) n.953A>G c.470A>G (p.His157Arg) c.464A>G (p.His155Arg) c.416A>G (p.His139Arg) | |
7 | g.44150972T>G | CA367401891 | GCK | c.*465A>C (n.*465A>C) c.467A>C (p.His156Pro) n.953A>C c.470A>C (p.His157Pro) c.464A>C (p.His155Pro) c.416A>C (p.His139Pro) | |
7 | g.44150973G>A | CA367401892 | GCK | c.*464C>T (n.*464C>T) c.466C>T (p.His156Tyr) n.952C>T c.469C>T (p.His157Tyr) c.463C>T (p.His155Tyr) c.415C>T (p.His139Tyr) | ClinVar dbSNP |
7 | g.44150973G>C | CA367401894 | GCK | c.*464C>G (n.*464C>G) c.466C>G (p.His156Asp) n.952C>G c.469C>G (p.His157Asp) c.463C>G (p.His155Asp) c.415C>G (p.His139Asp) | ClinVar |
7 | g.44150973G= | CA1703636441 | GCK | c.*464C= (n.*464C=) c.466C= (p.His156=) n.952C= c.469C= (p.His157=) c.463C= (p.His155=) c.415C= (p.His139=) | |
7 | g.44150973G>T | CA367401895 | GCK | c.*464C>A (n.*464C>A) c.466C>A (p.His156Asn) n.952C>A c.469C>A (p.His157Asn) c.463C>A (p.His155Asn) c.415C>A (p.His139Asn) | |
7 | g.44150974C>A | CA367401896 | GCK | c.*463G>T (n.*463G>T) c.465G>T (p.Arg155Ser) n.951G>T c.468G>T (p.Arg156Ser) c.462G>T (p.Arg154Ser) c.414G>T (p.Arg138Ser) | ClinVar |
7 | g.44150974C= | CA1703636442 | GCK | c.*463G= (n.*463G=) c.465G= (p.Arg155=) n.951G= c.468G= (p.Arg156=) c.462G= (p.Arg154=) c.414G= (p.Arg138=) | |
7 | g.44150974C>G | CA367401898 | GCK | c.*463G>C (n.*463G>C) c.465G>C (p.Arg155Ser) n.951G>C c.468G>C (p.Arg156Ser) c.462G>C (p.Arg154Ser) c.414G>C (p.Arg138Ser) | |
7 | g.44150974C>T | CA4239629 | GCK | c.*463G>A (n.*463G>A) c.465G>A (p.Arg155=) n.951G>A c.468G>A (p.Arg156=) c.462G>A (p.Arg154=) c.414G>A (p.Arg138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150975C>A | CA367401903 | GCK | c.*462G>T (n.*462G>T) c.464G>T (p.Arg155Met) n.950G>T c.467G>T (p.Arg156Met) c.461G>T (p.Arg154Met) c.413G>T (p.Arg138Met) | |
7 | g.44150975C= | CA1703636443 | GCK | c.*462G= (n.*462G=) c.464G= (p.Arg155=) n.950G= c.467G= (p.Arg156=) c.461G= (p.Arg154=) c.413G= (p.Arg138=) | |
7 | g.44150975C>G | CA367401902 | GCK | c.*462G>C (n.*462G>C) c.464G>C (p.Arg155Thr) n.950G>C c.467G>C (p.Arg156Thr) c.461G>C (p.Arg154Thr) c.413G>C (p.Arg138Thr) | ClinVar dbSNP |
7 | g.44150975C>T | CA367401900 | GCK | c.*462G>A (n.*462G>A) c.464G>A (p.Arg155Lys) n.950G>A c.467G>A (p.Arg156Lys) c.461G>A (p.Arg154Lys) c.413G>A (p.Arg138Lys) | |
7 | g.44150976T>A | CA367401904 | GCK | c.*461A>T (n.*461A>T) c.463A>T (p.Arg155Trp) n.949A>T c.466A>T (p.Arg156Trp) c.460A>T (p.Arg154Trp) c.412A>T (p.Arg138Trp) | |
7 | g.44150976T>C | CA213790 | GCK | c.*461A>G (n.*461A>G) c.463A>G (p.Arg155Gly) n.949A>G c.466A>G (p.Arg156Gly) c.460A>G (p.Arg154Gly) c.412A>G (p.Arg138Gly) | ClinVar dbSNP |
7 | g.44150976T>G | CA454609732 | GCK | c.*461A>C (n.*461A>C) c.463A>C (p.Arg155=) n.949A>C c.466A>C (p.Arg156=) c.460A>C (p.Arg154=) c.412A>C (p.Arg138=) | |
7 | g.44150976T= | CA1703636444 | GCK | c.*461A= (n.*461A=) c.463A= (p.Arg155=) n.949A= c.466A= (p.Arg156=) c.460A= (p.Arg154=) c.412A= (p.Arg138=) | |
7 | g.44150977C>A | CA454609734 | GCK | c.*460G>T (n.*460G>T) c.462G>T (p.Val154=) n.948G>T c.465G>T (p.Val155=) c.459G>T (p.Val153=) c.411G>T (p.Val137=) | gnomAD v4 |
7 | g.44150977C>G | CA454609735 | GCK | c.*460G>C (n.*460G>C) c.462G>C (p.Val154=) n.948G>C c.465G>C (p.Val155=) c.459G>C (p.Val153=) c.411G>C (p.Val137=) | |
7 | g.44150977C>T | CA454609736 | GCK | c.*460G>A (n.*460G>A) c.462G>A (p.Val154=) n.948G>A c.465G>A (p.Val155=) c.459G>A (p.Val153=) c.411G>A (p.Val137=) | |
7 | g.44150979_44150980del | CA2695202955 | GCK | c.*459_*460del (n.*459_*460del) c.461_462del (p.Val154GlufsTer7) n.947_948del c.464_465del (p.Val155GlufsTer7) c.458_459del (p.Val153GlufsTer7) c.410_411del (p.Val137GlufsTer7) | |
7 | g.44150978A>C | CA367401907 | GCK | c.*459T>G (n.*459T>G) c.461T>G (p.Val154Gly) n.947T>G c.464T>G (p.Val155Gly) c.458T>G (p.Val153Gly) c.410T>G (p.Val137Gly) | ClinVar |
7 | g.44150978A>G | CA367401909 | GCK | c.*459T>C (n.*459T>C) c.461T>C (p.Val154Ala) n.947T>C c.464T>C (p.Val155Ala) c.458T>C (p.Val153Ala) c.410T>C (p.Val137Ala) | ClinVar gnomAD v4 |
7 | g.44150978A>T | CA367401908 | GCK | c.*459T>A (n.*459T>A) c.461T>A (p.Val154Glu) n.947T>A c.464T>A (p.Val155Glu) c.458T>A (p.Val153Glu) c.410T>A (p.Val137Glu) | |
7 | g.44150979C>A | CA367401912 | GCK | c.*458G>T (n.*458G>T) c.460G>T (p.Val154Leu) n.946G>T c.463G>T (p.Val155Leu) c.457G>T (p.Val153Leu) c.409G>T (p.Val137Leu) | |
7 | g.44150979C= | CA1703636445 | GCK | c.*458G= (n.*458G=) c.460G= (p.Val154=) n.946G= c.463G= (p.Val155=) c.457G= (p.Val153=) c.409G= (p.Val137=) | |
7 | g.44150979C>G | CA4239630 | GCK | c.*458G>C (n.*458G>C) c.460G>C (p.Val154Leu) n.946G>C c.463G>C (p.Val155Leu) c.457G>C (p.Val153Leu) c.409G>C (p.Val137Leu) | dbSNP ExAC gnomAD v2 |
7 | g.44150979C>T | CA367401913 | GCK | c.*458G>A (n.*458G>A) c.460G>A (p.Val154Met) n.946G>A c.463G>A (p.Val155Met) c.457G>A (p.Val153Met) c.409G>A (p.Val137Met) | |
7 | g.44150980A= | CA1703636446 | GCK | c.*457T= (n.*457T=) c.459T= (p.Pro153=) n.945T= c.462T= (p.Pro154=) c.456T= (p.Pro152=) c.408T= (p.Pro136=) | |
7 | g.44150980A>C | CA454609740 | GCK | c.*457T>G (n.*457T>G) c.459T>G (p.Pro153=) n.945T>G c.462T>G (p.Pro154=) c.456T>G (p.Pro152=) c.408T>G (p.Pro136=) | |
7 | g.44150980A>G | CA454609741 | GCK | c.*457T>C (n.*457T>C) c.459T>C (p.Pro153=) n.945T>C c.462T>C (p.Pro154=) c.456T>C (p.Pro152=) c.408T>C (p.Pro136=) | dbSNP |
7 | g.44150980A>T | CA454609744 | GCK | c.*457T>A (n.*457T>A) c.459T>A (p.Pro153=) n.945T>A c.462T>A (p.Pro154=) c.456T>A (p.Pro152=) c.408T>A (p.Pro136=) | |
7 | g.44150981G>A | CA367401915 | GCK | c.*456C>T (n.*456C>T) c.458C>T (p.Pro153Leu) n.944C>T c.461C>T (p.Pro154Leu) c.455C>T (p.Pro152Leu) c.407C>T (p.Pro136Leu) | |
7 | g.44150981G>C | CA367401916 | GCK | c.*456C>G (n.*456C>G) c.458C>G (p.Pro153Arg) n.944C>G c.461C>G (p.Pro154Arg) c.455C>G (p.Pro152Arg) c.407C>G (p.Pro136Arg) | |
7 | g.44150981G>T | CA367401917 | GCK | c.*456C>A (n.*456C>A) c.458C>A (p.Pro153His) n.944C>A c.461C>A (p.Pro154His) c.455C>A (p.Pro152His) c.407C>A (p.Pro136His) | ClinVar |
7 | g.44150982G>A | CA213788 | GCK | c.*455C>T (n.*455C>T) c.457C>T (p.Pro153Ser) n.943C>T c.460C>T (p.Pro154Ser) c.454C>T (p.Pro152Ser) c.406C>T (p.Pro136Ser) | ClinVar dbSNP |
7 | g.44150982G>C | CA367401918 | GCK | c.*455C>G (n.*455C>G) c.457C>G (p.Pro153Ala) n.943C>G c.460C>G (p.Pro154Ala) c.454C>G (p.Pro152Ala) c.406C>G (p.Pro136Ala) | |
7 | g.44150982G= | CA1703636447 | GCK | c.*455C= (n.*455C=) c.457C= (p.Pro153=) n.943C= c.460C= (p.Pro154=) c.454C= (p.Pro152=) c.406C= (p.Pro136=) | |
7 | g.44150982G>T | CA367401919 | GCK | c.*455C>A (n.*455C>A) c.457C>A (p.Pro153Thr) n.943C>A c.460C>A (p.Pro154Thr) c.454C>A (p.Pro152Thr) c.406C>A (p.Pro136Thr) | |
7 | g.44150983A>C | CA367401920 | GCK | c.*454T>G (n.*454T>G) c.456T>G (p.Phe152Leu) n.942T>G c.459T>G (p.Phe153Leu) c.453T>G (p.Phe151Leu) c.405T>G (p.Phe135Leu) | COSMIC COSMIC COSMIC |
7 | g.44150983A>G | CA454609755 | GCK | c.*454T>C (n.*454T>C) c.456T>C (p.Phe152=) n.942T>C c.459T>C (p.Phe153=) c.453T>C (p.Phe151=) c.405T>C (p.Phe135=) | |
7 | g.44150983A>T | CA367401922 | GCK | c.*454T>A (n.*454T>A) c.456T>A (p.Phe152Leu) n.942T>A c.459T>A (p.Phe153Leu) c.453T>A (p.Phe151Leu) c.405T>A (p.Phe135Leu) | |
7 | g.44150984A>C | CA367401924 | GCK | c.*453T>G (n.*453T>G) c.455T>G (p.Phe152Cys) n.941T>G c.458T>G (p.Phe153Cys) c.452T>G (p.Phe151Cys) c.404T>G (p.Phe135Cys) | |
7 | g.44150984A>G | CA367401925 | GCK | c.*453T>C (n.*453T>C) c.455T>C (p.Phe152Ser) n.941T>C c.458T>C (p.Phe153Ser) c.452T>C (p.Phe151Ser) c.404T>C (p.Phe135Ser) | ClinVar |
7 | g.44150984A>T | CA367401927 | GCK | c.*453T>A (n.*453T>A) c.455T>A (p.Phe152Tyr) n.941T>A c.458T>A (p.Phe153Tyr) c.452T>A (p.Phe151Tyr) c.404T>A (p.Phe135Tyr) | |
7 | g.44150985A= | CA1703636448 | GCK | c.*452T= (n.*452T=) c.454T= (p.Phe152=) n.940T= c.457T= (p.Phe153=) c.451T= (p.Phe151=) c.403T= (p.Phe135=) | |
7 | g.44150985A>C | CA367401931 | GCK | c.*452T>G (n.*452T>G) c.454T>G (p.Phe152Val) n.940T>G c.457T>G (p.Phe153Val) c.451T>G (p.Phe151Val) c.403T>G (p.Phe135Val) | |
7 | g.44150985A>G | CA367401929 | GCK | c.*452T>C (n.*452T>C) c.454T>C (p.Phe152Leu) n.940T>C c.457T>C (p.Phe153Leu) c.451T>C (p.Phe151Leu) c.403T>C (p.Phe135Leu) | ClinVar dbSNP |
7 | g.44150985A>T | CA367401928 | GCK | c.*452T>A (n.*452T>A) c.454T>A (p.Phe152Ile) n.940T>A c.457T>A (p.Phe153Ile) c.451T>A (p.Phe151Ile) c.403T>A (p.Phe135Ile) | ClinVar |
7 | g.44150987_44150989del | CA2695202957 | GCK | c.*450_*452del (n.*450_*452del) c.452_454del (p.Ser151del) n.938_940del c.455_457del (p.Ser152del) c.449_451del (p.Ser150del) c.401_403del (p.Ser134del) | |
7 | g.44150986G>A | CA454609766 | GCK | c.*451C>T (n.*451C>T) c.453C>T (p.Ser151=) n.939C>T c.456C>T (p.Ser152=) c.450C>T (p.Ser150=) c.402C>T (p.Ser134=) | |
7 | g.44150986G>C | CA454609765 | GCK | c.*451C>G (n.*451C>G) c.453C>G (p.Ser151=) n.939C>G c.456C>G (p.Ser152=) c.450C>G (p.Ser150=) c.402C>G (p.Ser134=) | |
7 | g.44150986G>T | CA454609764 | GCK | c.*451C>A (n.*451C>A) c.453C>A (p.Ser151=) n.939C>A c.456C>A (p.Ser152=) c.450C>A (p.Ser150=) c.402C>A (p.Ser134=) | |
7 | g.44150986_44150987del | CA2695202958 | GCK | c.*450_*451del (n.*450_*451del) c.452_453del (p.Ser151PhefsTer10) n.938_939del c.455_456del (p.Ser152PhefsTer10) c.449_450del (p.Ser150PhefsTer10) c.401_402del (p.Ser134PhefsTer10) | |
7 | g.44150987G>A | CA367401932 | GCK | c.*450C>T (n.*450C>T) c.452C>T (p.Ser151Phe) n.938C>T c.455C>T (p.Ser152Phe) c.449C>T (p.Ser150Phe) c.401C>T (p.Ser134Phe) | |
7 | g.44150987G>C | CA367401934 | GCK | c.*450C>G (n.*450C>G) c.452C>G (p.Ser151Cys) n.938C>G c.455C>G (p.Ser152Cys) c.449C>G (p.Ser150Cys) c.401C>G (p.Ser134Cys) | |
7 | g.44150987G>T | CA367401935 | GCK | c.*450C>A (n.*450C>A) c.452C>A (p.Ser151Tyr) n.938C>A c.455C>A (p.Ser152Tyr) c.449C>A (p.Ser150Tyr) c.401C>A (p.Ser134Tyr) | ClinVar dbSNP |
7 | g.44150989_44150990del | CA2695202959 | GCK | c.*449_*450del (n.*449_*450del) c.451_452del (p.Ser151LeufsTer10) n.937_938del c.454_455del (p.Ser152LeufsTer10) c.448_449del (p.Ser150LeufsTer10) c.400_401del (p.Ser134LeufsTer10) | |
7 | g.44150988A>C | CA367401937 | GCK | c.*449T>G (n.*449T>G) c.451T>G (p.Ser151Ala) n.937T>G c.454T>G (p.Ser152Ala) c.448T>G (p.Ser150Ala) c.400T>G (p.Ser134Ala) | |
7 | g.44150988A>G | CA367401938 | GCK | c.*449T>C (n.*449T>C) c.451T>C (p.Ser151Pro) n.937T>C c.454T>C (p.Ser152Pro) c.448T>C (p.Ser150Pro) c.400T>C (p.Ser134Pro) | ClinVar gnomAD v4 |
7 | g.44150988A>T | CA367401940 | GCK | c.*449T>A (n.*449T>A) c.451T>A (p.Ser151Thr) n.937T>A c.454T>A (p.Ser152Thr) c.448T>A (p.Ser150Thr) c.400T>A (p.Ser134Thr) | |
7 | g.44150990_44150992del | CA2580612107 | GCK | c.*447_*449del (n.*447_*449del) c.449_451del (p.Phe150del) n.935_937del c.452_454del (p.Phe151del) c.446_448del (p.Phe149del) c.398_400del (p.Phe133del) | ClinVar |
7 | g.44150989G>A | CA213786 | GCK | c.*448C>T (n.*448C>T) c.450C>T (p.Phe150=) n.936C>T c.453C>T (p.Phe151=) c.447C>T (p.Phe149=) c.399C>T (p.Phe133=) | ClinVar dbSNP gnomAD v4 |
7 | g.44150989G>C | CA367401941 | GCK | c.*448C>G (n.*448C>G) c.450C>G (p.Phe150Leu) n.936C>G c.453C>G (p.Phe151Leu) c.447C>G (p.Phe149Leu) c.399C>G (p.Phe133Leu) | |
7 | g.44150989G= | CA1703636449 | GCK | c.*448C= (n.*448C=) c.450C= (p.Phe150=) n.936C= c.453C= (p.Phe151=) c.447C= (p.Phe149=) c.399C= (p.Phe133=) | |
7 | g.44150989G>T | CA367401942 | GCK | c.*448C>A (n.*448C>A) c.450C>A (p.Phe150Leu) n.936C>A c.453C>A (p.Phe151Leu) c.447C>A (p.Phe149Leu) c.399C>A (p.Phe133Leu) | ClinVar COSMIC COSMIC COSMIC |
7 | g.44150990A= | CA1703636450 | GCK | c.*447T= (n.*447T=) c.449T= (p.Phe150=) n.935T= c.452T= (p.Phe151=) c.446T= (p.Phe149=) c.398T= (p.Phe133=) | |
7 | g.44150990A>C | CA367401943 | GCK | c.*447T>G (n.*447T>G) c.449T>G (p.Phe150Cys) n.935T>G c.452T>G (p.Phe151Cys) c.446T>G (p.Phe149Cys) c.398T>G (p.Phe133Cys) | |
7 | g.44150990A>G | CA213784 | GCK | c.*447T>C (n.*447T>C) c.449T>C (p.Phe150Ser) n.935T>C c.452T>C (p.Phe151Ser) c.446T>C (p.Phe149Ser) c.398T>C (p.Phe133Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.44150990A>T | CA231135 | GCK | c.*447T>A (n.*447T>A) c.449T>A (p.Phe150Tyr) n.935T>A c.452T>A (p.Phe151Tyr) c.446T>A (p.Phe149Tyr) c.398T>A (p.Phe133Tyr) | ClinVar dbSNP |
7 | g.44150991A>C | CA367401949 | GCK | c.*446T>G (n.*446T>G) c.448T>G (p.Phe150Val) n.934T>G c.451T>G (p.Phe151Val) c.445T>G (p.Phe149Val) c.397T>G (p.Phe133Val) | COSMIC COSMIC COSMIC |
7 | g.44150991A>G | CA367401948 | GCK | c.*446T>C (n.*446T>C) c.448T>C (p.Phe150Leu) n.934T>C c.451T>C (p.Phe151Leu) c.445T>C (p.Phe149Leu) c.397T>C (p.Phe133Leu) | gnomAD v4 |
7 | g.44150991A>T | CA367401946 | GCK | c.*446T>A (n.*446T>A) c.448T>A (p.Phe150Ile) n.934T>A c.451T>A (p.Phe151Ile) c.445T>A (p.Phe149Ile) c.397T>A (p.Phe133Ile) | |
7 | g.44150992G>A | CA4239631 | GCK | c.*445C>T (n.*445C>T) c.447C>T (p.Thr149=) n.933C>T c.450C>T (p.Thr150=) c.444C>T (p.Thr148=) c.396C>T (p.Thr132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44150992G>C | CA454609780 | GCK | c.*445C>G (n.*445C>G) c.447C>G (p.Thr149=) n.933C>G c.450C>G (p.Thr150=) c.444C>G (p.Thr148=) c.396C>G (p.Thr132=) | |
7 | g.44150992G= | CA1703636451 | GCK | c.*445C= (n.*445C=) c.447C= (p.Thr149=) n.933C= c.450C= (p.Thr150=) c.444C= (p.Thr148=) c.396C= (p.Thr132=) | |
7 | g.44150992G>T | CA454609781 | GCK | c.*445C>A (n.*445C>A) c.447C>A (p.Thr149=) n.933C>A c.450C>A (p.Thr150=) c.444C>A (p.Thr148=) c.396C>A (p.Thr132=) | |
7 | g.44150993G>A | CA367401951 | GCK | c.*444C>T (n.*444C>T) c.446C>T (p.Thr149Ile) n.932C>T c.449C>T (p.Thr150Ile) c.443C>T (p.Thr148Ile) c.395C>T (p.Thr132Ile) | dbSNP |
7 | g.44150993G>C | CA367401952 | GCK | c.*444C>G (n.*444C>G) c.446C>G (p.Thr149Ser) n.932C>G c.449C>G (p.Thr150Ser) c.443C>G (p.Thr148Ser) c.395C>G (p.Thr132Ser) | |
7 | g.44150993G>T | CA367401954 | GCK | c.*444C>A (n.*444C>A) c.446C>A (p.Thr149Asn) n.932C>A c.449C>A (p.Thr150Asn) c.443C>A (p.Thr148Asn) c.395C>A (p.Thr132Asn) | |
7 | g.44150994T>A | CA367401955 | GCK | c.*443A>T (n.*443A>T) c.445A>T (p.Thr149Ser) n.931A>T c.448A>T (p.Thr150Ser) c.442A>T (p.Thr148Ser) c.394A>T (p.Thr132Ser) | |
7 | g.44150994T>C | CA367401956 | GCK | c.*443A>G (n.*443A>G) c.445A>G (p.Thr149Ala) n.931A>G c.448A>G (p.Thr150Ala) c.442A>G (p.Thr148Ala) c.394A>G (p.Thr132Ala) | |
7 | g.44150994T>G | CA367401958 | GCK | c.*443A>C (n.*443A>C) c.445A>C (p.Thr149Pro) n.931A>C c.448A>C (p.Thr150Pro) c.442A>C (p.Thr148Pro) c.394A>C (p.Thr132Pro) | |
7 | g.44150994dup | CA2580077137 | GCK | c.*443dup (n.*443dup) c.445dup (p.Thr149AsnfsTer13) n.931dup c.448dup (p.Thr150AsnfsTer13) c.442dup (p.Thr148AsnfsTer13) c.394dup (p.Thr132AsnfsTer13) | ClinVar |
7 | g.44150995G>A | CA157918138 | GCK | c.*442C>T (n.*442C>T) c.444C>T (p.Phe148=) n.930C>T c.447C>T (p.Phe149=) c.441C>T (p.Phe147=) c.393C>T (p.Phe131=) | dbSNP |
7 | g.44150995G>C | CA367401960 | GCK | c.*442C>G (n.*442C>G) c.444C>G (p.Phe148Leu) n.930C>G c.447C>G (p.Phe149Leu) c.441C>G (p.Phe147Leu) c.393C>G (p.Phe131Leu) | |
7 | g.44150995G= | CA1703636452 | GCK | c.*442C= (n.*442C=) c.444C= (p.Phe148=) n.930C= c.447C= (p.Phe149=) c.441C= (p.Phe147=) c.393C= (p.Phe131=) | |
7 | g.44150995G>T | CA367401961 | GCK | c.*442C>A (n.*442C>A) c.444C>A (p.Phe148Leu) n.930C>A c.447C>A (p.Phe149Leu) c.441C>A (p.Phe147Leu) c.393C>A (p.Phe131Leu) | |
7 | g.44150996A>C | CA367401962 | GCK | c.*441T>G (n.*441T>G) c.443T>G (p.Phe148Cys) n.929T>G c.446T>G (p.Phe149Cys) c.440T>G (p.Phe147Cys) c.392T>G (p.Phe131Cys) | |
7 | g.44150996A>G | CA367401964 | GCK | c.*441T>C (n.*441T>C) c.443T>C (p.Phe148Ser) n.929T>C c.446T>C (p.Phe149Ser) c.440T>C (p.Phe147Ser) c.392T>C (p.Phe131Ser) | ClinVar |
7 | g.44150996A>T | CA367401965 | GCK | c.*441T>A (n.*441T>A) c.443T>A (p.Phe148Tyr) n.929T>A c.446T>A (p.Phe149Tyr) c.440T>A (p.Phe147Tyr) c.392T>A (p.Phe131Tyr) | |
7 | g.44150997A= | CA1703636453 | GCK | c.*440T= (n.*440T=) c.442T= (p.Phe148=) n.928T= c.445T= (p.Phe149=) c.439T= (p.Phe147=) c.391T= (p.Phe131=) | |
7 | g.44150997A>C | CA367401969 | GCK | c.*440T>G (n.*440T>G) c.442T>G (p.Phe148Val) n.928T>G c.445T>G (p.Phe149Val) c.439T>G (p.Phe147Val) c.391T>G (p.Phe131Val) | |
7 | g.44150997A>G | CA367401968 | GCK | c.*440T>C (n.*440T>C) c.442T>C (p.Phe148Leu) n.928T>C c.445T>C (p.Phe149Leu) c.439T>C (p.Phe147Leu) c.391T>C (p.Phe131Leu) | gnomAD v4 |
7 | g.44150997A>T | CA367401967 | GCK | c.*440T>A (n.*440T>A) c.442T>A (p.Phe148Ile) n.928T>A c.445T>A (p.Phe149Ile) c.439T>A (p.Phe147Ile) c.391T>A (p.Phe131Ile) | ClinVar dbSNP |
7 | g.44150998G>A | CA454609795 | GCK | c.*439C>T (n.*439C>T) c.441C>T (p.Gly147=) n.927C>T c.444C>T (p.Gly148=) c.438C>T (p.Gly146=) c.390C>T (p.Gly130=) | |
7 | g.44150998G>C | CA454609797 | GCK | c.*439C>G (n.*439C>G) c.441C>G (p.Gly147=) n.927C>G c.444C>G (p.Gly148=) c.438C>G (p.Gly146=) c.390C>G (p.Gly130=) | |
7 | g.44150998G>T | CA454609798 | GCK | c.*439C>A (n.*439C>A) c.441C>A (p.Gly147=) n.927C>A c.444C>A (p.Gly148=) c.438C>A (p.Gly146=) c.390C>A (p.Gly130=) | gnomAD v4 |
7 | g.44150998_44150999delinsGC | CA1703636454 | GCK | c.*438_*439delinsGC (n.*438_*439delinsGC) c.440_441delinsGC (p.Gly147=) n.926_927delinsGC c.443_444delinsGC (p.Gly148=) c.437_438delinsGC (p.Gly146=) c.389_390delinsGC (p.Gly130=) | |
7 | g.44150999C>A | CA367401970 | GCK | c.*438G>T (n.*438G>T) c.440G>T (p.Gly147Val) n.926G>T c.443G>T (p.Gly148Val) c.437G>T (p.Gly146Val) c.389G>T (p.Gly130Val) | |
7 | g.44150999C= | CA1703636455 | GCK | c.*438G= (n.*438G=) c.440G= (p.Gly147=) n.926G= c.443G= (p.Gly148=) c.437G= (p.Gly146=) c.389G= (p.Gly130=) | |
7 | g.44150999C>G | CA367401971 | GCK | c.*438G>C (n.*438G>C) c.440G>C (p.Gly147Ala) n.926G>C c.443G>C (p.Gly148Ala) c.437G>C (p.Gly146Ala) c.389G>C (p.Gly130Ala) | |
7 | g.44150999C>T | CA213782 | GCK | c.*438G>A (n.*438G>A) c.440G>A (p.Gly147Asp) n.926G>A c.443G>A (p.Gly148Asp) c.437G>A (p.Gly146Asp) c.389G>A (p.Gly130Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44151001del | CA658655970 | GCK | c.*438del (n.*438del) c.440del (p.Gly147AlafsTer8) n.926del c.443del (p.Gly148AlafsTer8) c.437del (p.Gly146AlafsTer8) c.389del (p.Gly130AlafsTer8) | ClinVar dbSNP |
7 | g.44151000C>A | CA367401973 | GCK | c.*437G>T (n.*437G>T) c.439G>T (p.Gly147Cys) n.925G>T c.442G>T (p.Gly148Cys) c.436G>T (p.Gly146Cys) c.388G>T (p.Gly130Cys) | COSMIC COSMIC COSMIC |
7 | g.44151000C>G | CA367401974 | GCK | c.*437G>C (n.*437G>C) c.439G>C (p.Gly147Arg) n.925G>C c.442G>C (p.Gly148Arg) c.436G>C (p.Gly146Arg) c.388G>C (p.Gly130Arg) | |
7 | g.44151000C>T | CA367401975 | GCK | c.*437G>A (n.*437G>A) c.439G>A (p.Gly147Ser) n.925G>A c.442G>A (p.Gly148Ser) c.436G>A (p.Gly146Ser) c.388G>A (p.Gly130Ser) | gnomAD v4 |
7 | g.44151001C>A | CA454609802 | GCK | c.*436G>T (n.*436G>T) c.438G>T (p.Leu146=) n.924G>T c.441G>T (p.Leu147=) c.435G>T (p.Leu145=) c.387G>T (p.Leu129=) | |
7 | g.44151001C= | CA1703636456 | GCK | c.*436G= (n.*436G=) c.438G= (p.Leu146=) n.924G= c.441G= (p.Leu147=) c.435G= (p.Leu145=) c.387G= (p.Leu129=) | |
7 | g.44151001C>G | CA454609803 | GCK | c.*436G>C (n.*436G>C) c.438G>C (p.Leu146=) n.924G>C c.441G>C (p.Leu147=) c.435G>C (p.Leu145=) c.387G>C (p.Leu129=) | |
7 | g.44151001C>T | CA454609804 | GCK | c.*436G>A (n.*436G>A) c.438G>A (p.Leu146=) n.924G>A c.441G>A (p.Leu147=) c.435G>A (p.Leu145=) c.387G>A (p.Leu129=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44151002del | CA2695202962 | GCK | c.*435del (n.*435del) c.437del (p.Leu146ArgfsTer9) n.923del c.440del (p.Leu147ArgfsTer9) c.434del (p.Leu145ArgfsTer9) c.386del (p.Leu129ArgfsTer9) | |
7 | g.44151002A= | CA1703636457 | GCK | c.*435T= (n.*435T=) c.437T= (p.Leu146=) n.923T= c.440T= (p.Leu147=) c.434T= (p.Leu145=) c.386T= (p.Leu129=) | |
7 | g.44151002A>C | CA367401977 | GCK | c.*435T>G (n.*435T>G) c.437T>G (p.Leu146Arg) n.923T>G c.440T>G (p.Leu147Arg) c.434T>G (p.Leu145Arg) c.386T>G (p.Leu129Arg) | ClinVar |
7 | g.44151002A>G | CA367401978 | GCK | c.*435T>C (n.*435T>C) c.437T>C (p.Leu146Pro) n.923T>C c.440T>C (p.Leu147Pro) c.434T>C (p.Leu145Pro) c.386T>C (p.Leu129Pro) | ClinVar dbSNP |
7 | g.44151002A>T | CA367401980 | GCK | c.*435T>A (n.*435T>A) c.437T>A (p.Leu146Gln) n.923T>A c.440T>A (p.Leu147Gln) c.434T>A (p.Leu145Gln) c.386T>A (p.Leu129Gln) | |
7 | g.44151003G>A | CA454609808 | GCK | c.*434C>T (n.*434C>T) c.436C>T (p.Leu146=) n.922C>T c.439C>T (p.Leu147=) c.433C>T (p.Leu145=) c.385C>T (p.Leu129=) | gnomAD v4 |
7 | g.44151003G>C | CA367401981 | GCK | c.*434C>G (n.*434C>G) c.436C>G (p.Leu146Val) n.922C>G c.439C>G (p.Leu147Val) c.433C>G (p.Leu145Val) c.385C>G (p.Leu129Val) | |
7 | g.44151003G>T | CA367401982 | GCK | c.*434C>A (n.*434C>A) c.436C>A (p.Leu146Met) n.922C>A c.439C>A (p.Leu147Met) c.433C>A (p.Leu145Met) c.385C>A (p.Leu129Met) | COSMIC COSMIC COSMIC |
7 | g.44151005_44151006dup | CA16618469 | GCK | c.*433_*434dup (n.*433_*434dup) c.435_436dup (p.Leu146ProfsTer10) n.921_922dup c.438_439dup (p.Leu147ProfsTer10) c.432_433dup (p.Leu145ProfsTer10) c.384_385dup (p.Leu129ProfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44151004G>A | CA4239633 | GCK | c.*433C>T (n.*433C>T) c.435C>T (p.Pro145=) n.921C>T c.438C>T (p.Pro146=) c.432C>T (p.Pro144=) c.384C>T (p.Pro128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44151004G>C | CA4239632 | GCK | c.*433C>G (n.*433C>G) c.435C>G (p.Pro145=) n.921C>G c.438C>G (p.Pro146=) c.432C>G (p.Pro144=) c.384C>G (p.Pro128=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44151004G= | CA1703636458 | GCK | c.*433C= (n.*433C=) c.435C= (p.Pro145=) n.921C= c.438C= (p.Pro146=) c.432C= (p.Pro144=) c.384C= (p.Pro128=) | |
7 | g.44151004G>T | CA454609811 | GCK | c.*433C>A (n.*433C>A) c.435C>A (p.Pro145=) n.921C>A c.438C>A (p.Pro146=) c.432C>A (p.Pro144=) c.384C>A (p.Pro128=) | |
7 | g.44151005G>A | CA367401987 | GCK | c.*432C>T (n.*432C>T) c.434C>T (p.Pro145Leu) n.920C>T c.437C>T (p.Pro146Leu) c.431C>T (p.Pro144Leu) c.383C>T (p.Pro128Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44151005G>C | CA367401988 | GCK | c.*432C>G (n.*432C>G) c.434C>G (p.Pro145Arg) n.920C>G c.437C>G (p.Pro146Arg) c.431C>G (p.Pro144Arg) c.383C>G (p.Pro128Arg) | |
7 | g.44151005G= | CA1703636459 | GCK | c.*432C= (n.*432C=) c.434C= (p.Pro145=) n.920C= c.437C= (p.Pro146=) c.431C= (p.Pro144=) c.383C= (p.Pro128=) | |
7 | g.44151005G>T | CA367401986 | GCK | c.*432C>A (n.*432C>A) c.434C>A (p.Pro145His) n.920C>A c.437C>A (p.Pro146His) c.431C>A (p.Pro144His) c.383C>A (p.Pro128His) | |
7 | g.44151006G>A | CA4239634 | GCK | c.*431C>T (n.*431C>T) c.433C>T (p.Pro145Ser) n.919C>T c.436C>T (p.Pro146Ser) c.430C>T (p.Pro144Ser) c.382C>T (p.Pro128Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44151006G>C | CA367401990 | GCK | c.*431C>G (n.*431C>G) c.433C>G (p.Pro145Ala) n.919C>G c.436C>G (p.Pro146Ala) c.430C>G (p.Pro144Ala) c.382C>G (p.Pro128Ala) | |
7 | g.44151006G= | CA1703636460 | GCK | c.*431C= (n.*431C=) c.433C= (p.Pro145=) n.919C= c.436C= (p.Pro146=) c.430C= (p.Pro144=) c.382C= (p.Pro128=) | |
7 | g.44151006G>T | CA367401992 | GCK | c.*431C>A (n.*431C>A) c.433C>A (p.Pro145Thr) n.919C>A c.436C>A (p.Pro146Thr) c.430C>A (p.Pro144Thr) c.382C>A (p.Pro128Thr) | |
7 | g.44151007C>A | CA454609812 | GCK | c.*430G>T (n.*430G>T) c.432G>T (p.Leu144=) n.918G>T c.435G>T (p.Leu145=) c.429G>T (p.Leu143=) c.381G>T (p.Leu127=) | ClinVar dbSNP |
7 | g.44151007C= | CA1703636462 | GCK | c.*430G= (n.*430G=) c.432G= (p.Leu144=) n.918G= c.435G= (p.Leu145=) c.429G= (p.Leu143=) c.381G= (p.Leu127=) | |
7 | g.44151007C>G | CA454609814 | GCK | c.*430G>C (n.*430G>C) c.432G>C (p.Leu144=) n.918G>C c.435G>C (p.Leu145=) c.429G>C (p.Leu143=) c.381G>C (p.Leu127=) | |
7 | g.44151007C>T | CA454609815 | GCK | c.*430G>A (n.*430G>A) c.432G>A (p.Leu144=) n.918G>A c.435G>A (p.Leu145=) c.429G>A (p.Leu143=) c.381G>A (p.Leu127=) | |
7 | g.44151007_44151008delinsAG | CA2695202965 | GCK | c.*429_*430delinsCT (n.*429_*430delinsCT) c.431_432delinsCT (p.Leu144Pro) n.917_918delinsCT c.434_435delinsCT (p.Leu145Pro) c.428_429delinsCT (p.Leu143Pro) c.380_381delinsCT (p.Leu127Pro) | ClinVar |
7 | g.44151007_44151008delinsCA | CA1703636461 | GCK | c.*429_*430delinsTG (n.*429_*430delinsTG) c.431_432delinsTG (p.Leu144=) n.917_918delinsTG c.434_435delinsTG (p.Leu145=) c.428_429delinsTG (p.Leu143=) c.380_381delinsTG (p.Leu127=) | |
7 | g.44151008del | CA16618470 | GCK | c.*429del (n.*429del) c.431del (p.Leu144ArgfsTer11) n.917del c.434del (p.Leu145ArgfsTer11) c.428del (p.Leu143ArgfsTer11) c.380del (p.Leu127ArgfsTer11) | ClinVar dbSNP |
7 | g.44151008A= | CA1703636463 | GCK | c.*429T= (n.*429T=) c.431T= (p.Leu144=) n.917T= c.434T= (p.Leu145=) c.428T= (p.Leu143=) c.380T= (p.Leu127=) | |
7 | g.44151008A>C | CA367401993 | GCK | c.*429T>G (n.*429T>G) c.431T>G (p.Leu144Arg) n.917T>G c.434T>G (p.Leu145Arg) c.428T>G (p.Leu143Arg) c.380T>G (p.Leu127Arg) | |
7 | g.44151008A>G | CA367401995 | GCK | c.*429T>C (n.*429T>C) c.431T>C (p.Leu144Pro) n.917T>C c.434T>C (p.Leu145Pro) c.428T>C (p.Leu143Pro) c.380T>C (p.Leu127Pro) | ClinVar dbSNP |
7 | g.44151008A>T | CA367401997 | GCK | c.*429T>A (n.*429T>A) c.431T>A (p.Leu144Gln) n.917T>A c.434T>A (p.Leu145Gln) c.428T>A (p.Leu143Gln) c.380T>A (p.Leu127Gln) | |
7 | g.44151009G>A | CA454609819 | GCK | c.*428C>T (n.*428C>T) c.430C>T (p.Leu144=) n.916C>T c.433C>T (p.Leu145=) c.427C>T (p.Leu143=) c.379C>T (p.Leu127=) | COSMIC COSMIC COSMIC |
7 | g.44151009G>C | CA367401998 | GCK | c.*428C>G (n.*428C>G) c.430C>G (p.Leu144Val) n.916C>G c.433C>G (p.Leu145Val) c.427C>G (p.Leu143Val) c.379C>G (p.Leu127Val) | ClinVar |
7 | g.44151009G>T | CA367402000 | GCK | c.*428C>A (n.*428C>A) c.430C>A (p.Leu144Met) n.916C>A c.433C>A (p.Leu145Met) c.427C>A (p.Leu143Met) c.379C>A (p.Leu127Met) | |
7 | g.44151010C>A | CA367402001 | GCK | c.*427G>T (n.*427G>T) c.429G>T (p.Lys143Asn) n.915G>T c.432G>T (p.Lys144Asn) c.426G>T (p.Lys142Asn) c.378G>T (p.Lys126Asn) | ClinVar gnomAD v4 |
7 | g.44151010C= | CA1703636464 | GCK | c.*427G= (n.*427G=) c.429G= (p.Lys143=) n.915G= c.432G= (p.Lys144=) c.426G= (p.Lys142=) c.378G= (p.Lys126=) | |
7 | g.44151010C>G | CA367402002 | GCK | c.*427G>C (n.*427G>C) c.429G>C (p.Lys143Asn) n.915G>C c.432G>C (p.Lys144Asn) c.426G>C (p.Lys142Asn) c.378G>C (p.Lys126Asn) | |
7 | g.44151010C>T | CA454609820 | GCK | c.*427G>A (n.*427G>A) c.429G>A (p.Lys143=) n.915G>A c.432G>A (p.Lys144=) c.426G>A (p.Lys142=) c.378G>A (p.Lys126=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.44151013_44151015del | CA2695202966 | GCK | c.*425_*427del (n.*425_*427del) c.427_429del (p.Lys143del) n.913_915del c.430_432del (p.Lys144del) c.424_426del (p.Lys142del) c.376_378del (p.Lys126del) | |
7 | g.44151011T>A | CA367402004 | GCK | c.*426A>T (n.*426A>T) c.428A>T (p.Lys143Met) n.914A>T c.431A>T (p.Lys144Met) c.425A>T (p.Lys142Met) c.377A>T (p.Lys126Met) | |
7 | g.44151011T>C | CA367402006 | GCK | c.*426A>G (n.*426A>G) c.428A>G (p.Lys143Arg) n.914A>G c.431A>G (p.Lys144Arg) c.425A>G (p.Lys142Arg) c.377A>G (p.Lys126Arg) | |
7 | g.44151011T>G | CA367402007 | GCK | c.*426A>C (n.*426A>C) c.428A>C (p.Lys143Thr) n.914A>C c.431A>C (p.Lys144Thr) c.425A>C (p.Lys142Thr) c.377A>C (p.Lys126Thr) | |
7 | g.44151011_44151012delinsAG | CA658655971 | GCK | c.*425_*426delinsCT (n.*425_*426delinsCT) c.427_428delinsCT (p.Lys143Leu) n.913_914delinsCT c.430_431delinsCT (p.Lys144Leu) c.424_425delinsCT (p.Lys142Leu) c.376_377delinsCT (p.Lys126Leu) | ClinVar dbSNP |
7 | g.44151011_44151012delinsTT | CA1703636465 | GCK | c.*425_*426delinsAA (n.*425_*426delinsAA) c.427_428delinsAA (p.Lys143=) n.913_914delinsAA c.430_431delinsAA (p.Lys144=) c.424_425delinsAA (p.Lys142=) c.376_377delinsAA (p.Lys126=) | |
7 | g.44151012T>A | CA367402011 | GCK | c.*425A>T (n.*425A>T) c.427A>T (p.Lys143Ter) n.913A>T c.430A>T (p.Lys144Ter) c.424A>T (p.Lys142Ter) c.376A>T (p.Lys126Ter) | |
7 | g.44151012T>C | CA367402010 | GCK | c.*425A>G (n.*425A>G) c.427A>G (p.Lys143Glu) n.913A>G c.430A>G (p.Lys144Glu) c.424A>G (p.Lys142Glu) c.376A>G (p.Lys126Glu) | |
7 | g.44151012T>G | CA367402009 | GCK | c.*425A>C (n.*425A>C) c.427A>C (p.Lys143Gln) n.913A>C c.430A>C (p.Lys144Gln) c.424A>C (p.Lys142Gln) c.376A>C (p.Lys126Gln) |