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.44152239_44152252dup | CA2682576111 | GCK | c.*361+19_*361+32dup (n.*361+19_*361+32dup) c.363+19_363+32dup (n.363+19_363+32dup) n.849+19_849+32dup c.366+19_366+32dup (n.366+19_366+32dup) c.360+19_360+32dup (n.360+19_360+32dup) | gnomAD v4 |
7 | g.44152246del | CA573798853 | GCK | c.*361+29del (n.*361+29del) c.363+29del (n.363+29del) n.849+29del c.366+29del (n.366+29del) c.360+29del (n.360+29del) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152243C= | CA1703637008 | GCK | c.*361+28G= (n.*361+28G=) c.363+28G= (n.363+28G=) n.849+28G= c.366+28G= (n.366+28G=) c.360+28G= (n.360+28G=) | |
7 | g.44152243C>G | CA573798854 | GCK | c.*361+28G>C (n.*361+28G>C) c.363+28G>C (n.363+28G>C) n.849+28G>C c.366+28G>C (n.366+28G>C) c.360+28G>C (n.360+28G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152243C>T | CA2682576120 | GCK | c.*361+28G>A (n.*361+28G>A) c.363+28G>A (n.363+28G>A) n.849+28G>A c.366+28G>A (n.366+28G>A) c.360+28G>A (n.360+28G>A) | gnomAD v4 |
7 | g.44152244C>A | CA573798855 | GCK | c.*361+27G>T (n.*361+27G>T) c.363+27G>T (n.363+27G>T) n.849+27G>T c.366+27G>T (n.366+27G>T) c.360+27G>T (n.360+27G>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152244C= | CA1703637009 | GCK | c.*361+27G= (n.*361+27G=) c.363+27G= (n.363+27G=) n.849+27G= c.366+27G= (n.366+27G=) c.360+27G= (n.360+27G=) | |
7 | g.44152244C>T | CA4239658 | GCK | c.*361+27G>A (n.*361+27G>A) c.363+27G>A (n.363+27G>A) n.849+27G>A c.366+27G>A (n.366+27G>A) c.360+27G>A (n.360+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152246C>A | CA2839409320 | GCK | c.*361+25G>T (n.*361+25G>T) c.363+25G>T (n.363+25G>T) n.849+25G>T c.366+25G>T (n.366+25G>T) c.360+25G>T (n.360+25G>T) | |
7 | g.44152247T>A | CA573798856 | GCK | c.*361+24A>T (n.*361+24A>T) c.363+24A>T (n.363+24A>T) n.849+24A>T c.366+24A>T (n.366+24A>T) c.360+24A>T (n.360+24A>T) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152247T>C | CA2682576127 | GCK | c.*361+24A>G (n.*361+24A>G) c.363+24A>G (n.363+24A>G) n.849+24A>G c.366+24A>G (n.366+24A>G) c.360+24A>G (n.360+24A>G) | gnomAD v4 |
7 | g.44152247T= | CA1703637010 | GCK | c.*361+24A= (n.*361+24A=) c.363+24A= (n.363+24A=) n.849+24A= c.366+24A= (n.366+24A=) c.360+24A= (n.360+24A=) | |
7 | g.44152249C= | CA1703637011 | GCK | c.*361+22G= (n.*361+22G=) c.363+22G= (n.363+22G=) n.849+22G= c.366+22G= (n.366+22G=) c.360+22G= (n.360+22G=) | |
7 | g.44152249C>G | CA2682576128 | GCK | c.*361+22G>C (n.*361+22G>C) c.363+22G>C (n.363+22G>C) n.849+22G>C c.366+22G>C (n.366+22G>C) c.360+22G>C (n.360+22G>C) | gnomAD v4 |
7 | g.44152249C>T | CA573798857 | GCK | c.*361+22G>A (n.*361+22G>A) c.363+22G>A (n.363+22G>A) n.849+22G>A c.366+22G>A (n.366+22G>A) c.360+22G>A (n.360+22G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152252dup | CA2842717664 | GCK | c.*361+22dup (n.*361+22dup) c.363+22dup (n.363+22dup) n.849+22dup c.366+22dup (n.366+22dup) c.360+22dup (n.360+22dup) | |
7 | g.44152252C= | CA1703637012 | GCK | c.*361+19G= (n.*361+19G=) c.363+19G= (n.363+19G=) n.849+19G= c.366+19G= (n.366+19G=) c.360+19G= (n.360+19G=) | |
7 | g.44152252C>T | CA4239659 | GCK | c.*361+19G>A (n.*361+19G>A) c.363+19G>A (n.363+19G>A) n.849+19G>A c.366+19G>A (n.366+19G>A) c.360+19G>A (n.360+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152253G>A | CA4239660 | GCK | c.*361+18C>T (n.*361+18C>T) c.363+18C>T (n.363+18C>T) n.849+18C>T c.366+18C>T (n.366+18C>T) c.360+18C>T (n.360+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152253G>C | CA1703637013 | GCK | c.*361+18C>G (n.*361+18C>G) c.363+18C>G (n.363+18C>G) n.849+18C>G c.366+18C>G (n.366+18C>G) c.360+18C>G (n.360+18C>G) | dbSNP gnomAD v4 |
7 | g.44152253G= | CA1703637014 | GCK | c.*361+18C= (n.*361+18C=) c.363+18C= (n.363+18C=) n.849+18C= c.366+18C= (n.366+18C=) c.360+18C= (n.360+18C=) | |
7 | g.44152254G>A | CA1703637016 | GCK | c.*361+17C>T (n.*361+17C>T) c.363+17C>T (n.363+17C>T) n.849+17C>T c.366+17C>T (n.366+17C>T) c.360+17C>T (n.360+17C>T) | dbSNP |
7 | g.44152254G= | CA1703637015 | GCK | c.*361+17C= (n.*361+17C=) c.363+17C= (n.363+17C=) n.849+17C= c.366+17C= (n.366+17C=) c.360+17C= (n.360+17C=) | |
7 | g.44152254G>T | CA2682576131 | GCK | c.*361+17C>A (n.*361+17C>A) c.363+17C>A (n.363+17C>A) n.849+17C>A c.366+17C>A (n.366+17C>A) c.360+17C>A (n.360+17C>A) | gnomAD v4 |
7 | g.44152255C= | CA1703637017 | GCK | c.*361+16G= (n.*361+16G=) c.363+16G= (n.363+16G=) n.849+16G= c.366+16G= (n.366+16G=) c.360+16G= (n.360+16G=) | |
7 | g.44152255C>G | CA4239661 | GCK | c.*361+16G>C (n.*361+16G>C) c.363+16G>C (n.363+16G>C) n.849+16G>C c.366+16G>C (n.366+16G>C) c.360+16G>C (n.360+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152256C= | CA1703637018 | GCK | c.*361+15G= (n.*361+15G=) c.363+15G= (n.363+15G=) n.849+15G= c.366+15G= (n.366+15G=) c.360+15G= (n.360+15G=) | |
7 | g.44152256C>T | CA4239662 | GCK | c.*361+15G>A (n.*361+15G>A) c.363+15G>A (n.363+15G>A) n.849+15G>A c.366+15G>A (n.366+15G>A) c.360+15G>A (n.360+15G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152257C>A | CA157919086 | GCK | c.*361+14G>T (n.*361+14G>T) c.363+14G>T (n.363+14G>T) n.849+14G>T c.366+14G>T (n.366+14G>T) c.360+14G>T (n.360+14G>T) | dbSNP |
7 | g.44152257C= | CA1703637019 | GCK | c.*361+14G= (n.*361+14G=) c.363+14G= (n.363+14G=) n.849+14G= c.366+14G= (n.366+14G=) c.360+14G= (n.360+14G=) | |
7 | g.44152257C>G | CA2682576133 | GCK | c.*361+14G>C (n.*361+14G>C) c.363+14G>C (n.363+14G>C) n.849+14G>C c.366+14G>C (n.366+14G>C) c.360+14G>C (n.360+14G>C) | gnomAD v4 |
7 | g.44152257C>T | CA4239663 | GCK | c.*361+14G>A (n.*361+14G>A) c.363+14G>A (n.363+14G>A) n.849+14G>A c.366+14G>A (n.366+14G>A) c.360+14G>A (n.360+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152259T>C | CA2682576136 | GCK | c.*361+12A>G (n.*361+12A>G) c.363+12A>G (n.363+12A>G) n.849+12A>G c.366+12A>G (n.366+12A>G) c.360+12A>G (n.360+12A>G) | gnomAD v4 |
7 | g.44152261C>A | CA2682576140 | GCK | c.*361+10G>T (n.*361+10G>T) c.363+10G>T (n.363+10G>T) n.849+10G>T c.366+10G>T (n.366+10G>T) c.360+10G>T (n.360+10G>T) | gnomAD v4 |
7 | g.44152261C= | CA1703637020 | GCK | c.*361+10G= (n.*361+10G=) c.363+10G= (n.363+10G=) n.849+10G= c.366+10G= (n.366+10G=) c.360+10G= (n.360+10G=) | |
7 | g.44152261C>G | CA10629231 | GCK | c.*361+10G>C (n.*361+10G>C) c.363+10G>C (n.363+10G>C) n.849+10G>C c.366+10G>C (n.366+10G>C) c.360+10G>C (n.360+10G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.44152261C>T | CA4239664 | GCK | c.*361+10G>A (n.*361+10G>A) c.363+10G>A (n.363+10G>A) n.849+10G>A c.366+10G>A (n.366+10G>A) c.360+10G>A (n.360+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152262G>A | CA4239665 | GCK | c.*361+9C>T (n.*361+9C>T) c.363+9C>T (n.363+9C>T) n.849+9C>T c.366+9C>T (n.366+9C>T) c.360+9C>T (n.360+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152262G>C | CA2682576141 | GCK | c.*361+9C>G (n.*361+9C>G) c.363+9C>G (n.363+9C>G) n.849+9C>G c.366+9C>G (n.366+9C>G) c.360+9C>G (n.360+9C>G) | gnomAD v4 |
7 | g.44152262G= | CA1703637021 | GCK | c.*361+9C= (n.*361+9C=) c.363+9C= (n.363+9C=) n.849+9C= c.366+9C= (n.366+9C=) c.360+9C= (n.360+9C=) | |
7 | g.44152265G= | CA1703637022 | GCK | c.*361+6C= (n.*361+6C=) c.363+6C= (n.363+6C=) n.849+6C= c.366+6C= (n.366+6C=) c.360+6C= (n.360+6C=) | |
7 | g.44152265G>T | CA4239666 | GCK | c.*361+6C>A (n.*361+6C>A) c.363+6C>A (n.363+6C>A) n.849+6C>A c.366+6C>A (n.366+6C>A) c.360+6C>A (n.360+6C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152266C>T | CA2682576144 | GCK | c.*361+5G>A (n.*361+5G>A) c.363+5G>A (n.363+5G>A) n.849+5G>A c.366+5G>A (n.366+5G>A) c.360+5G>A (n.360+5G>A) | gnomAD v4 |
7 | g.44152268C>T | CA2682576145 | GCK | c.*361+3G>A (n.*361+3G>A) c.363+3G>A (n.363+3G>A) n.849+3G>A c.366+3G>A (n.366+3G>A) c.360+3G>A (n.360+3G>A) | gnomAD v4 |
7 | g.44152269del | CA2682576146 | GCK | c.*361+2del (n.*361+2del) c.363+2del (n.363+2del) n.849+2del c.366+2del (n.366+2del) c.360+2del (n.360+2del) | gnomAD v4 |
7 | g.44152269A>C | CA367402544 | GCK | c.*361+2T>G (n.*361+2T>G) c.363+2T>G (n.363+2T>G) n.849+2T>G c.366+2T>G (n.366+2T>G) c.360+2T>G (n.360+2T>G) | |
7 | g.44152269A>G | CA367402543 | GCK | c.*361+2T>C (n.*361+2T>C) c.363+2T>C (n.363+2T>C) n.849+2T>C c.366+2T>C (n.366+2T>C) c.360+2T>C (n.360+2T>C) | |
7 | g.44152269A>T | CA367402542 | GCK | c.*361+2T>A (n.*361+2T>A) c.363+2T>A (n.363+2T>A) n.849+2T>A c.366+2T>A (n.366+2T>A) c.360+2T>A (n.360+2T>A) | ClinVar |
7 | g.44152270C>A | CA367402545 | GCK | c.*361+1G>T (n.*361+1G>T) c.363+1G>T (n.363+1G>T) n.849+1G>T c.366+1G>T (n.366+1G>T) c.360+1G>T (n.360+1G>T) | |
7 | g.44152270C= | CA1703637023 | GCK | c.*361+1G= (n.*361+1G=) c.363+1G= (n.363+1G=) n.849+1G= c.366+1G= (n.366+1G=) c.360+1G= (n.360+1G=) | |
7 | g.44152270C>G | CA367402546 | GCK | c.*361+1G>C (n.*361+1G>C) c.363+1G>C (n.363+1G>C) n.849+1G>C c.366+1G>C (n.366+1G>C) c.360+1G>C (n.360+1G>C) | |
7 | g.44152270C>T | CA367402547 | GCK | c.*361+1G>A (n.*361+1G>A) c.363+1G>A (n.363+1G>A) n.849+1G>A c.366+1G>A (n.366+1G>A) c.360+1G>A (n.360+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152271del | CA2695202978 | GCK | c.*361+1del c.363+1del n.849+1del c.366+1del c.360+1del | |
7 | g.44152271C>A | CA367402548 | GCK | c.*361G>T (n.*361G>T) c.363G>T (p.Met121Ile) n.849G>T c.366G>T (p.Met122Ile) c.360G>T (p.Met120Ile) | dbSNP |
7 | g.44152271C= | CA1703637024 | GCK | c.*361G= (n.*361G=) c.363G= (p.Met121=) n.849G= c.366G= (p.Met122=) c.360G= (p.Met120=) | |
7 | g.44152271C>G | CA367402549 | GCK | c.*361G>C (n.*361G>C) c.363G>C (p.Met121Ile) n.849G>C c.366G>C (p.Met122Ile) c.360G>C (p.Met120Ile) | gnomAD v4 |
7 | g.44152271C>T | CA367402550 | GCK | c.*361G>A (n.*361G>A) c.363G>A (p.Met121Ile) n.849G>A c.366G>A (p.Met122Ile) c.360G>A (p.Met120Ile) | |
7 | g.44152272A>C | CA367402551 | GCK | c.*360T>G (n.*360T>G) c.362T>G (p.Met121Arg) n.848T>G c.365T>G (p.Met122Arg) c.359T>G (p.Met120Arg) | |
7 | g.44152272A>G | CA367402552 | GCK | c.*360T>C (n.*360T>C) c.362T>C (p.Met121Thr) n.848T>C c.365T>C (p.Met122Thr) c.359T>C (p.Met120Thr) | gnomAD v4 |
7 | g.44152272A>T | CA367402553 | GCK | c.*360T>A (n.*360T>A) c.362T>A (p.Met121Lys) n.848T>A c.365T>A (p.Met122Lys) c.359T>A (p.Met120Lys) | |
7 | g.44152273T>A | CA367402554 | GCK | c.*359A>T (n.*359A>T) c.361A>T (p.Met121Leu) n.847A>T c.364A>T (p.Met122Leu) c.358A>T (p.Met120Leu) | |
7 | g.44152273T>C | CA367402555 | GCK | c.*359A>G (n.*359A>G) c.361A>G (p.Met121Val) n.847A>G c.364A>G (p.Met122Val) c.358A>G (p.Met120Val) | dbSNP |
7 | g.44152273T>G | CA367402556 | GCK | c.*359A>C (n.*359A>C) c.361A>C (p.Met121Leu) n.847A>C c.364A>C (p.Met122Leu) c.358A>C (p.Met120Leu) | |
7 | g.44152273T= | CA1703637025 | GCK | c.*359A= (n.*359A=) c.361A= (p.Met121=) n.847A= c.364A= (p.Met122=) c.358A= (p.Met120=) | |
7 | g.44152274C>A | CA367402558 | GCK | c.*358G>T (n.*358G>T) c.360G>T (p.Glu120Asp) n.846G>T c.363G>T (p.Glu121Asp) c.357G>T (p.Glu119Asp) | |
7 | g.44152274C>G | CA367402557 | GCK | c.*358G>C (n.*358G>C) c.360G>C (p.Glu120Asp) n.846G>C c.363G>C (p.Glu121Asp) c.357G>C (p.Glu119Asp) | ClinVar |
7 | g.44152274C>T | CA454610157 | GCK | c.*358G>A (n.*358G>A) c.360G>A (p.Glu120=) n.846G>A c.363G>A (p.Glu121=) c.357G>A (p.Glu119=) | ClinVar |
7 | g.44152275T>A | CA367402559 | GCK | c.*357A>T (n.*357A>T) c.359A>T (p.Glu120Val) n.845A>T c.362A>T (p.Glu121Val) c.356A>T (p.Glu119Val) | |
7 | g.44152275T>C | CA367402560 | GCK | c.*357A>G (n.*357A>G) c.359A>G (p.Glu120Gly) n.845A>G c.362A>G (p.Glu121Gly) c.356A>G (p.Glu119Gly) | |
7 | g.44152275T>G | CA367402561 | GCK | c.*357A>C (n.*357A>C) c.359A>C (p.Glu120Ala) n.845A>C c.362A>C (p.Glu121Ala) c.356A>C (p.Glu119Ala) | |
7 | g.44152275dup | CA2499218896 | GCK | c.*357dup (n.*357dup) c.359dup (p.Met121AspfsTer8) n.845dup c.362dup (p.Met122AspfsTer8) c.356dup (p.Met120AspfsTer8) c.359dup (p.Met121AspfsTer24) | ClinVar dbSNP |
7 | g.44152276C>A | CA367402562 | GCK | c.*356G>T (n.*356G>T) c.358G>T (p.Glu120Ter) n.844G>T c.361G>T (p.Glu121Ter) c.355G>T (p.Glu119Ter) | |
7 | g.44152276C= | CA1703637026 | GCK | c.*356G= (n.*356G=) c.358G= (p.Glu120=) n.844G= c.361G= (p.Glu121=) c.355G= (p.Glu119=) | |
7 | g.44152276C>G | CA367402563 | GCK | c.*356G>C (n.*356G>C) c.358G>C (p.Glu120Gln) n.844G>C c.361G>C (p.Glu121Gln) c.355G>C (p.Glu119Gln) | |
7 | g.44152276C>T | CA4239667 | GCK | c.*356G>A (n.*356G>A) c.358G>A (p.Glu120Lys) n.844G>A c.361G>A (p.Glu121Lys) c.355G>A (p.Glu119Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152277_44152284del | CA2580077152 | GCK | c.*349_*356del (n.*349_*356del) c.351_358del (p.Thr118AspfsTer8) n.837_844del c.354_361del (p.Thr119AspfsTer8) c.348_355del (p.Thr117AspfsTer8) c.351_358del (p.Thr118AspfsTer24) | ClinVar gnomAD v4 |
7 | g.44152277A= | CA1703637027 | GCK | c.*355T= (n.*355T=) c.357T= (p.Ala119=) n.843T= c.360T= (p.Ala120=) c.354T= (p.Ala118=) | |
7 | g.44152277A>C | CA454610164 | GCK | c.*355T>G (n.*355T>G) c.357T>G (p.Ala119=) n.843T>G c.360T>G (p.Ala120=) c.354T>G (p.Ala118=) | |
7 | g.44152277A>G | CA4239668 | GCK | c.*355T>C (n.*355T>C) c.357T>C (p.Ala119=) n.843T>C c.360T>C (p.Ala120=) c.354T>C (p.Ala118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152277A>T | CA454610163 | GCK | c.*355T>A (n.*355T>A) c.357T>A (p.Ala119=) n.843T>A c.360T>A (p.Ala120=) c.354T>A (p.Ala118=) | |
7 | g.44152278G>A | CA367402564 | GCK | c.*354C>T (n.*354C>T) c.356C>T (p.Ala119Val) n.842C>T c.359C>T (p.Ala120Val) c.353C>T (p.Ala118Val) | |
7 | g.44152278G>C | CA367402565 | GCK | c.*354C>G (n.*354C>G) c.356C>G (p.Ala119Gly) n.842C>G c.359C>G (p.Ala120Gly) c.353C>G (p.Ala118Gly) | ClinVar |
7 | g.44152278G= | CA1703637028 | GCK | c.*354C= (n.*354C=) c.356C= (p.Ala119=) n.842C= c.359C= (p.Ala120=) c.353C= (p.Ala118=) | |
7 | g.44152278G>T | CA367402566 | GCK | c.*354C>A (n.*354C>A) c.356C>A (p.Ala119Asp) n.842C>A c.359C>A (p.Ala120Asp) c.353C>A (p.Ala118Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152279del | CA2695202981 | GCK | c.*353del (n.*353del) c.355del (p.Ala119LeufsTer21) n.841del c.358del (p.Ala120LeufsTer21) c.352del (p.Ala118LeufsTer21) c.355del (p.Ala119LeufsTer3) | |
7 | g.44152279C>A | CA367402568 | GCK | c.*353G>T (n.*353G>T) c.355G>T (p.Ala119Ser) n.841G>T c.358G>T (p.Ala120Ser) c.352G>T (p.Ala118Ser) | |
7 | g.44152279C= | CA1703637029 | GCK | c.*353G= (n.*353G=) c.355G= (p.Ala119=) n.841G= c.358G= (p.Ala120=) c.352G= (p.Ala118=) | |
7 | g.44152279C>G | CA367402570 | GCK | c.*353G>C (n.*353G>C) c.355G>C (p.Ala119Pro) n.841G>C c.358G>C (p.Ala120Pro) c.352G>C (p.Ala118Pro) | |
7 | g.44152279C>T | CA16618471 | GCK | c.*353G>A (n.*353G>A) c.355G>A (p.Ala119Thr) n.841G>A c.358G>A (p.Ala120Thr) c.352G>A (p.Ala118Thr) | ClinVar dbSNP |
7 | g.44152280A= | CA1703637030 | GCK | c.*352T= (n.*352T=) c.354T= (p.Thr118=) n.840T= c.357T= (p.Thr119=) c.351T= (p.Thr117=) | |
7 | g.44152280A>C | CA454610169 | GCK | c.*352T>G (n.*352T>G) c.354T>G (p.Thr118=) n.840T>G c.357T>G (p.Thr119=) c.351T>G (p.Thr117=) | dbSNP |
7 | g.44152280A>G | CA454610171 | GCK | c.*352T>C (n.*352T>C) c.354T>C (p.Thr118=) n.840T>C c.357T>C (p.Thr119=) c.351T>C (p.Thr117=) | |
7 | g.44152280A>T | CA454610170 | GCK | c.*352T>A (n.*352T>A) c.354T>A (p.Thr118=) n.840T>A c.357T>A (p.Thr119=) c.351T>A (p.Thr117=) | |
7 | g.44152281G>A | CA367402574 | GCK | c.*351C>T (n.*351C>T) c.353C>T (p.Thr118Ile) n.839C>T c.356C>T (p.Thr119Ile) c.350C>T (p.Thr117Ile) | |
7 | g.44152281G>C | CA367402572 | GCK | c.*351C>G (n.*351C>G) c.353C>G (p.Thr118Ser) n.839C>G c.356C>G (p.Thr119Ser) c.350C>G (p.Thr117Ser) | |
7 | g.44152281G>T | CA367402573 | GCK | c.*351C>A (n.*351C>A) c.353C>A (p.Thr118Asn) n.839C>A c.356C>A (p.Thr119Asn) c.350C>A (p.Thr117Asn) | |
7 | g.44152282T>A | CA367402575 | GCK | c.*350A>T (n.*350A>T) c.352A>T (p.Thr118Ser) n.838A>T c.355A>T (p.Thr119Ser) c.349A>T (p.Thr117Ser) | ClinVar |
7 | g.44152282T>C | CA367402576 | GCK | c.*350A>G (n.*350A>G) c.352A>G (p.Thr118Ala) n.838A>G c.355A>G (p.Thr119Ala) c.349A>G (p.Thr117Ala) | ClinVar dbSNP |
7 | g.44152282T>G | CA367402577 | GCK | c.*350A>C (n.*350A>C) c.352A>C (p.Thr118Pro) n.838A>C c.355A>C (p.Thr119Pro) c.349A>C (p.Thr117Pro) | |
7 | g.44152283G>A | CA454610173 | GCK | c.*349C>T (n.*349C>T) c.351C>T (p.Gly117=) n.837C>T c.354C>T (p.Gly118=) c.348C>T (p.Gly116=) | |
7 | g.44152283G>C | CA454610174 | GCK | c.*349C>G (n.*349C>G) c.351C>G (p.Gly117=) n.837C>G c.354C>G (p.Gly118=) c.348C>G (p.Gly116=) | |
7 | g.44152283G>T | CA454610175 | GCK | c.*349C>A (n.*349C>A) c.351C>A (p.Gly117=) n.837C>A c.354C>A (p.Gly118=) c.348C>A (p.Gly116=) | |
7 | g.44152284C>A | CA367402580 | GCK | c.*348G>T (n.*348G>T) c.350G>T (p.Gly117Val) n.836G>T c.353G>T (p.Gly118Val) c.347G>T (p.Gly116Val) | ClinVar |
7 | g.44152284C>G | CA367402581 | GCK | c.*348G>C (n.*348G>C) c.350G>C (p.Gly117Ala) n.836G>C c.353G>C (p.Gly118Ala) c.347G>C (p.Gly116Ala) | |
7 | g.44152284C>T | CA367402583 | GCK | c.*348G>A (n.*348G>A) c.350G>A (p.Gly117Asp) n.836G>A c.353G>A (p.Gly118Asp) c.347G>A (p.Gly116Asp) | COSMIC COSMIC COSMIC |
7 | g.44152285del | CA2775231545 | GCK | c.*348del (n.*348del) c.350del (p.Gly117AlafsTer23) n.836del c.353del (p.Gly118AlafsTer23) c.347del (p.Gly116AlafsTer23) c.350del (p.Gly117AlafsTer5) | |
7 | g.44152285C>A | CA367402584 | GCK | c.*347G>T (n.*347G>T) c.349G>T (p.Gly117Cys) n.835G>T c.352G>T (p.Gly118Cys) c.346G>T (p.Gly116Cys) | dbSNP |
7 | g.44152285C= | CA1703637031 | GCK | c.*347G= (n.*347G=) c.349G= (p.Gly117=) n.835G= c.352G= (p.Gly118=) c.346G= (p.Gly116=) | |
7 | g.44152285C>G | CA367402585 | GCK | c.*347G>C (n.*347G>C) c.349G>C (p.Gly117Arg) n.835G>C c.352G>C (p.Gly118Arg) c.346G>C (p.Gly116Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.44152285C>T | CA4239669 | GCK | c.*347G>A (n.*347G>A) c.349G>A (p.Gly117Ser) n.835G>A c.352G>A (p.Gly118Ser) c.346G>A (p.Gly116Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152286G>A | CA4239670 | GCK | c.*346C>T (n.*346C>T) c.348C>T (p.Thr116=) n.834C>T c.351C>T (p.Thr117=) c.345C>T (p.Thr115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152286G>C | CA454610180 | GCK | c.*346C>G (n.*346C>G) c.348C>G (p.Thr116=) n.834C>G c.351C>G (p.Thr117=) c.345C>G (p.Thr115=) | gnomAD v4 |
7 | g.44152286G= | CA1703637032 | GCK | c.*346C= (n.*346C=) c.348C= (p.Thr116=) n.834C= c.351C= (p.Thr117=) c.345C= (p.Thr115=) | |
7 | g.44152286G>T | CA454610181 | GCK | c.*346C>A (n.*346C>A) c.348C>A (p.Thr116=) n.834C>A c.351C>A (p.Thr117=) c.345C>A (p.Thr115=) | |
7 | g.44152287G>A | CA367402590 | GCK | c.*345C>T (n.*345C>T) c.347C>T (p.Thr116Ile) n.833C>T c.350C>T (p.Thr117Ile) c.344C>T (p.Thr115Ile) | |
7 | g.44152287G>C | CA367402591 | GCK | c.*345C>G (n.*345C>G) c.347C>G (p.Thr116Ser) n.833C>G c.350C>G (p.Thr117Ser) c.344C>G (p.Thr115Ser) | |
7 | g.44152287G>T | CA367402592 | GCK | c.*345C>A (n.*345C>A) c.347C>A (p.Thr116Asn) n.833C>A c.350C>A (p.Thr117Asn) c.344C>A (p.Thr115Asn) | |
7 | g.44152288T>A | CA367402594 | GCK | c.*344A>T (n.*344A>T) c.346A>T (p.Thr116Ser) n.832A>T c.349A>T (p.Thr117Ser) c.343A>T (p.Thr115Ser) | |
7 | g.44152288T>C | CA367402595 | GCK | c.*344A>G (n.*344A>G) c.346A>G (p.Thr116Ala) n.832A>G c.349A>G (p.Thr117Ala) c.343A>G (p.Thr115Ala) | |
7 | g.44152288T>G | CA367402593 | GCK | c.*344A>C (n.*344A>C) c.346A>C (p.Thr116Pro) n.832A>C c.349A>C (p.Thr117Pro) c.343A>C (p.Thr115Pro) | |
7 | g.44152289C>A | CA367402596 | GCK | c.*343G>T (n.*343G>T) c.345G>T (p.Met115Ile) n.831G>T c.348G>T (p.Met116Ile) c.342G>T (p.Met114Ile) | |
7 | g.44152289C>G | CA367402598 | GCK | c.*343G>C (n.*343G>C) c.345G>C (p.Met115Ile) n.831G>C c.348G>C (p.Met116Ile) c.342G>C (p.Met114Ile) | |
7 | g.44152289C>T | CA367402599 | GCK | c.*343G>A (n.*343G>A) c.345G>A (p.Met115Ile) n.831G>A c.348G>A (p.Met116Ile) c.342G>A (p.Met114Ile) | |
7 | g.44152290A= | CA1703637033 | GCK | c.*342T= (n.*342T=) c.344T= (p.Met115=) n.830T= c.347T= (p.Met116=) c.341T= (p.Met114=) | |
7 | g.44152290A>C | CA367402602 | GCK | c.*342T>G (n.*342T>G) c.344T>G (p.Met115Arg) n.830T>G c.347T>G (p.Met116Arg) c.341T>G (p.Met114Arg) | |
7 | g.44152290A>G | CA4239671 | GCK | c.*342T>C (n.*342T>C) c.344T>C (p.Met115Thr) n.830T>C c.347T>C (p.Met116Thr) c.341T>C (p.Met114Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152290A>T | CA4239672 | GCK | c.*342T>A (n.*342T>A) c.344T>A (p.Met115Lys) n.830T>A c.347T>A (p.Met116Lys) c.341T>A (p.Met114Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152290dup | CA2695202983 | GCK | c.*342dup (n.*342dup) c.344dup (p.Met115IlefsTer6) n.830dup c.347dup (p.Met116IlefsTer6) c.341dup (p.Met114IlefsTer6) | |
7 | g.44152291T>A | CA367402605 | GCK | c.*341A>T (n.*341A>T) c.343A>T (p.Met115Leu) n.829A>T c.346A>T (p.Met116Leu) c.340A>T (p.Met114Leu) | |
7 | g.44152291T>C | CA4239673 | GCK | c.*341A>G (n.*341A>G) c.343A>G (p.Met115Val) n.829A>G c.346A>G (p.Met116Val) c.340A>G (p.Met114Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152291T>G | CA367402606 | GCK | c.*341A>C (n.*341A>C) c.343A>C (p.Met115Leu) n.829A>C c.346A>C (p.Met116Leu) c.340A>C (p.Met114Leu) | |
7 | g.44152291T= | CA1703637034 | GCK | c.*341A= (n.*341A=) c.343A= (p.Met115=) n.829A= c.346A= (p.Met116=) c.340A= (p.Met114=) | |
7 | g.44152292G>A | CA4239674 | GCK | c.*340C>T (n.*340C>T) c.342C>T (p.Ala114=) n.828C>T c.345C>T (p.Ala115=) c.339C>T (p.Ala113=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152292G>C | CA454610184 | GCK | c.*340C>G (n.*340C>G) c.342C>G (p.Ala114=) n.828C>G c.345C>G (p.Ala115=) c.339C>G (p.Ala113=) | |
7 | g.44152292G= | CA1703637035 | GCK | c.*340C= (n.*340C=) c.342C= (p.Ala114=) n.828C= c.345C= (p.Ala115=) c.339C= (p.Ala113=) | |
7 | g.44152292G>T | CA454610185 | GCK | c.*340C>A (n.*340C>A) c.342C>A (p.Ala114=) n.828C>A c.345C>A (p.Ala115=) c.339C>A (p.Ala113=) | COSMIC COSMIC COSMIC |
7 | g.44152293G>A | CA367402611 | GCK | c.*339C>T (n.*339C>T) c.341C>T (p.Ala114Val) n.827C>T c.344C>T (p.Ala115Val) c.338C>T (p.Ala113Val) | |
7 | g.44152293G>C | CA367402612 | GCK | c.*339C>G (n.*339C>G) c.341C>G (p.Ala114Gly) n.827C>G c.344C>G (p.Ala115Gly) c.338C>G (p.Ala113Gly) | |
7 | g.44152293G>T | CA367402614 | GCK | c.*339C>A (n.*339C>A) c.341C>A (p.Ala114Asp) n.827C>A c.344C>A (p.Ala115Asp) c.338C>A (p.Ala113Asp) | |
7 | g.44152294C>A | CA367402619 | GCK | c.*338G>T (n.*338G>T) c.340G>T (p.Ala114Ser) n.826G>T c.343G>T (p.Ala115Ser) c.337G>T (p.Ala113Ser) | |
7 | g.44152294C= | CA1703637036 | GCK | c.*338G= (n.*338G=) c.340G= (p.Ala114=) n.826G= c.343G= (p.Ala115=) c.337G= (p.Ala113=) | |
7 | g.44152294C>G | CA367402617 | GCK | c.*338G>C (n.*338G>C) c.340G>C (p.Ala114Pro) n.826G>C c.343G>C (p.Ala115Pro) c.337G>C (p.Ala113Pro) | |
7 | g.44152294C>T | CA4239675 | GCK | c.*338G>A (n.*338G>A) c.340G>A (p.Ala114Thr) n.826G>A c.343G>A (p.Ala115Thr) c.337G>A (p.Ala113Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152294dup | CA2573052880 | GCK | c.*338dup (n.*338dup) c.340dup (p.Ala114GlyfsTer7) n.826dup c.343dup (p.Ala115GlyfsTer7) c.337dup (p.Ala113GlyfsTer7) | ClinVar dbSNP |
7 | g.44152295G>A | CA209535 | GCK | c.*337C>T (n.*337C>T) c.339C>T (p.Asp113=) n.825C>T c.342C>T (p.Asp114=) c.336C>T (p.Asp112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152295G>C | CA367402622 | GCK | c.*337C>G (n.*337C>G) c.339C>G (p.Asp113Glu) n.825C>G c.342C>G (p.Asp114Glu) c.336C>G (p.Asp112Glu) | |
7 | g.44152295G= | CA1703637037 | GCK | c.*337C= (n.*337C=) c.339C= (p.Asp113=) n.825C= c.342C= (p.Asp114=) c.336C= (p.Asp112=) | |
7 | g.44152295G>T | CA367402625 | GCK | c.*337C>A (n.*337C>A) c.339C>A (p.Asp113Glu) n.825C>A c.342C>A (p.Asp114Glu) c.336C>A (p.Asp112Glu) | |
7 | g.44152296T>A | CA367402627 | GCK | c.*336A>T (n.*336A>T) c.338A>T (p.Asp113Val) n.824A>T c.341A>T (p.Asp114Val) c.335A>T (p.Asp112Val) | |
7 | g.44152296T>C | CA367402628 | GCK | c.*336A>G (n.*336A>G) c.338A>G (p.Asp113Gly) n.824A>G c.341A>G (p.Asp114Gly) c.335A>G (p.Asp112Gly) | |
7 | g.44152296T>G | CA367402629 | GCK | c.*336A>C (n.*336A>C) c.338A>C (p.Asp113Ala) n.824A>C c.341A>C (p.Asp114Ala) c.335A>C (p.Asp112Ala) | |
7 | g.44152297C>A | CA367402632 | GCK | c.*335G>T (n.*335G>T) c.337G>T (p.Asp113Tyr) n.823G>T c.340G>T (p.Asp114Tyr) c.334G>T (p.Asp112Tyr) | |
7 | g.44152297C>G | CA367402633 | GCK | c.*335G>C (n.*335G>C) c.337G>C (p.Asp113His) n.823G>C c.340G>C (p.Asp114His) c.334G>C (p.Asp112His) | |
7 | g.44152297C>T | CA367402634 | GCK | c.*335G>A (n.*335G>A) c.337G>A (p.Asp113Asn) n.823G>A c.340G>A (p.Asp114Asn) c.334G>A (p.Asp112Asn) | gnomAD v4 |
7 | g.44152298C>A | CA367402636 | GCK | c.*334G>T (n.*334G>T) c.336G>T (p.Glu112Asp) n.822G>T c.339G>T (p.Glu113Asp) c.333G>T (p.Glu111Asp) | |
7 | g.44152298C>G | CA367402637 | GCK | c.*334G>C (n.*334G>C) c.336G>C (p.Glu112Asp) n.822G>C c.339G>C (p.Glu113Asp) c.333G>C (p.Glu111Asp) | |
7 | g.44152298C>T | CA454610191 | GCK | c.*334G>A (n.*334G>A) c.336G>A (p.Glu112=) n.822G>A c.339G>A (p.Glu113=) c.333G>A (p.Glu111=) | gnomAD v4 |
7 | g.44152299T>A | CA367402638 | GCK | c.*333A>T (n.*333A>T) c.335A>T (p.Glu112Val) n.821A>T c.338A>T (p.Glu113Val) c.332A>T (p.Glu111Val) | |
7 | g.44152299T>C | CA367402639 | GCK | c.*333A>G (n.*333A>G) c.335A>G (p.Glu112Gly) n.821A>G c.338A>G (p.Glu113Gly) c.332A>G (p.Glu111Gly) | |
7 | g.44152299T>G | CA367402640 | GCK | c.*333A>C (n.*333A>C) c.335A>C (p.Glu112Ala) n.821A>C c.338A>C (p.Glu113Ala) c.332A>C (p.Glu111Ala) | |
7 | g.44152300C>A | CA367402643 | GCK | c.*332G>T (n.*332G>T) c.334G>T (p.Glu112Ter) n.820G>T c.337G>T (p.Glu113Ter) c.331G>T (p.Glu111Ter) | |
7 | g.44152300C= | CA1703637039 | GCK | c.*332G= (n.*332G=) c.334G= (p.Glu112=) n.820G= c.337G= (p.Glu113=) c.331G= (p.Glu111=) | |
7 | g.44152300C>G | CA367402641 | GCK | c.*332G>C (n.*332G>C) c.334G>C (p.Glu112Gln) n.820G>C c.337G>C (p.Glu113Gln) c.331G>C (p.Glu111Gln) | |
7 | g.44152300C>T | CA157919172 | GCK | c.*332G>A (n.*332G>A) c.334G>A (p.Glu112Lys) n.820G>A c.337G>A (p.Glu113Lys) c.331G>A (p.Glu111Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152300_44152317delinsCGGGGATGGAGTACATCT | CA1703637038 | GCK | c.*315_*332delinsAGATGTACTCCATCCCCG (n.*315_*332delinsAGATGTACTCCATCCCCG) c.317_334delinsAGATGTACTCCATCCCCG (p.Gln106=) n.803_820delinsAGATGTACTCCATCCCCG c.320_337delinsAGATGTACTCCATCCCCG (p.Gln107=) c.314_331delinsAGATGTACTCCATCCCCG (p.Gln105=) | |
7 | g.44152301G>A | CA208152 | GCK | c.*331C>T (n.*331C>T) c.333C>T (p.Pro111=) n.819C>T c.336C>T (p.Pro112=) c.330C>T (p.Pro110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152301G>C | CA4239676 | GCK | c.*331C>G (n.*331C>G) c.333C>G (p.Pro111=) n.819C>G c.336C>G (p.Pro112=) c.330C>G (p.Pro110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152301G= | CA1703637040 | GCK | c.*331C= (n.*331C=) c.333C= (p.Pro111=) n.819C= c.336C= (p.Pro112=) c.330C= (p.Pro110=) | |
7 | g.44152301G>T | CA454610196 | GCK | c.*331C>A (n.*331C>A) c.333C>A (p.Pro111=) n.819C>A c.336C>A (p.Pro112=) c.330C>A (p.Pro110=) | |
7 | g.44152303_44152319del | CA206713 | GCK | c.*315_*331del (n.*315_*331del) c.317_333del (p.Gln106ArgfsTer9) n.803_819del c.320_336del (p.Gln107ArgfsTer9) c.314_330del (p.Gln105ArgfsTer9) | ClinVar dbSNP |
7 | g.44152302G>A | CA367402647 | GCK | c.*330C>T (n.*330C>T) c.332C>T (p.Pro111Leu) n.818C>T c.335C>T (p.Pro112Leu) c.329C>T (p.Pro110Leu) | ClinVar |
7 | g.44152302G>C | CA367402648 | GCK | c.*330C>G (n.*330C>G) c.332C>G (p.Pro111Arg) n.818C>G c.335C>G (p.Pro112Arg) c.329C>G (p.Pro110Arg) | |
7 | g.44152302G>T | CA367402650 | GCK | c.*330C>A (n.*330C>A) c.332C>A (p.Pro111His) n.818C>A c.335C>A (p.Pro112His) c.329C>A (p.Pro110His) | |
7 | g.44152303G>A | CA367402652 | GCK | c.*329C>T (n.*329C>T) c.331C>T (p.Pro111Ser) n.817C>T c.334C>T (p.Pro112Ser) c.328C>T (p.Pro110Ser) | |
7 | g.44152303G>C | CA367402654 | GCK | c.*329C>G (n.*329C>G) c.331C>G (p.Pro111Ala) n.817C>G c.334C>G (p.Pro112Ala) c.328C>G (p.Pro110Ala) | |
7 | g.44152303G>T | CA367402655 | GCK | c.*329C>A (n.*329C>A) c.331C>A (p.Pro111Thr) n.817C>A c.334C>A (p.Pro112Thr) c.328C>A (p.Pro110Thr) | |
7 | g.44152304G>A | CA454610197 | GCK | c.*328C>T (n.*328C>T) c.330C>T (p.Ile110=) n.816C>T c.333C>T (p.Ile111=) c.327C>T (p.Ile109=) | |
7 | g.44152304G>C | CA367402657 | GCK | c.*328C>G (n.*328C>G) c.330C>G (p.Ile110Met) n.816C>G c.333C>G (p.Ile111Met) c.327C>G (p.Ile109Met) | ClinVar dbSNP |
7 | g.44152304G= | CA1703637041 | GCK | c.*328C= (n.*328C=) c.330C= (p.Ile110=) n.816C= c.333C= (p.Ile111=) c.327C= (p.Ile109=) | |
7 | g.44152304G>T | CA454610200 | GCK | c.*328C>A (n.*328C>A) c.330C>A (p.Ile110=) n.816C>A c.333C>A (p.Ile111=) c.327C>A (p.Ile109=) | |
7 | g.44152305del | CA2695202985 | GCK | c.*327del (n.*327del) c.329del (p.Ile110ThrfsTer6) n.815del c.332del (p.Ile111ThrfsTer6) c.326del (p.Ile109ThrfsTer6) | |
7 | g.44152305A= | CA1703637042 | GCK | c.*327T= (n.*327T=) c.329T= (p.Ile110=) n.815T= c.332T= (p.Ile111=) c.326T= (p.Ile109=) | |
7 | g.44152305A>C | CA367402659 | GCK | c.*327T>G (n.*327T>G) c.329T>G (p.Ile110Ser) n.815T>G c.332T>G (p.Ile111Ser) c.326T>G (p.Ile109Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
7 | g.44152305A>G | CA367402661 | GCK | c.*327T>C (n.*327T>C) c.329T>C (p.Ile110Thr) n.815T>C c.332T>C (p.Ile111Thr) c.326T>C (p.Ile109Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152305A>T | CA367402662 | GCK | c.*327T>A (n.*327T>A) c.329T>A (p.Ile110Asn) n.815T>A c.332T>A (p.Ile111Asn) c.326T>A (p.Ile109Asn) | |
7 | g.44152306T>A | CA367402669 | GCK | c.*326A>T (n.*326A>T) c.328A>T (p.Ile110Phe) n.814A>T c.331A>T (p.Ile111Phe) c.325A>T (p.Ile109Phe) | |
7 | g.44152306T>C | CA367402667 | GCK | c.*326A>G (n.*326A>G) c.328A>G (p.Ile110Val) n.814A>G c.331A>G (p.Ile111Val) c.325A>G (p.Ile109Val) | |
7 | g.44152306T>G | CA367402665 | GCK | c.*326A>C (n.*326A>C) c.328A>C (p.Ile110Leu) n.814A>C c.331A>C (p.Ile111Leu) c.325A>C (p.Ile109Leu) | |
7 | g.44152307G>A | CA454610201 | GCK | c.*325C>T (n.*325C>T) c.327C>T (p.Ser109=) n.813C>T c.330C>T (p.Ser110=) c.324C>T (p.Ser108=) | |
7 | g.44152307G>C | CA454610202 | GCK | c.*325C>G (n.*325C>G) c.327C>G (p.Ser109=) n.813C>G c.330C>G (p.Ser110=) c.324C>G (p.Ser108=) | |
7 | g.44152307G= | CA1703637043 | GCK | c.*325C= (n.*325C=) c.327C= (p.Ser109=) n.813C= c.330C= (p.Ser110=) c.324C= (p.Ser108=) | |
7 | g.44152307G>T | CA157919194 | GCK | c.*325C>A (n.*325C>A) c.327C>A (p.Ser109=) n.813C>A c.330C>A (p.Ser110=) c.324C>A (p.Ser108=) | dbSNP |
7 | g.44152308del | CA645372114 | GCK | c.*325del (n.*325del) c.327del (p.Ile110SerfsTer6) n.813del c.330del (p.Ile111SerfsTer6) c.324del (p.Ile109SerfsTer6) | |
7 | g.44152308G>A | CA367402671 | GCK | c.*324C>T (n.*324C>T) c.326C>T (p.Ser109Phe) n.812C>T c.329C>T (p.Ser110Phe) c.323C>T (p.Ser108Phe) | |
7 | g.44152308G>C | CA367402673 | GCK | c.*324C>G (n.*324C>G) c.326C>G (p.Ser109Cys) n.812C>G c.329C>G (p.Ser110Cys) c.323C>G (p.Ser108Cys) | |
7 | g.44152308G>T | CA367402675 | GCK | c.*324C>A (n.*324C>A) c.326C>A (p.Ser109Tyr) n.812C>A c.329C>A (p.Ser110Tyr) c.323C>A (p.Ser108Tyr) | |
7 | g.44152309A>C | CA367402676 | GCK | c.*323T>G (n.*323T>G) c.325T>G (p.Ser109Ala) n.811T>G c.328T>G (p.Ser110Ala) c.322T>G (p.Ser108Ala) | |
7 | g.44152309A>G | CA367402677 | GCK | c.*323T>C (n.*323T>C) c.325T>C (p.Ser109Pro) n.811T>C c.328T>C (p.Ser110Pro) c.322T>C (p.Ser108Pro) | |
7 | g.44152309A>T | CA367402678 | GCK | c.*323T>A (n.*323T>A) c.325T>A (p.Ser109Thr) n.811T>A c.328T>A (p.Ser110Thr) c.322T>A (p.Ser108Thr) | |
7 | g.44152310G>A | CA4239677 | GCK | c.*322C>T (n.*322C>T) c.324C>T (p.Tyr108=) n.810C>T c.327C>T (p.Tyr109=) c.321C>T (p.Tyr107=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152310G>C | CA367402679 | GCK | c.*322C>G (n.*322C>G) c.324C>G (p.Tyr108Ter) n.810C>G c.327C>G (p.Tyr109Ter) c.321C>G (p.Tyr107Ter) | |
7 | g.44152310G= | CA1703637044 | GCK | c.*322C= (n.*322C=) c.324C= (p.Tyr108=) n.810C= c.327C= (p.Tyr109=) c.321C= (p.Tyr107=) | |
7 | g.44152310G>T | CA367402681 | GCK | c.*322C>A (n.*322C>A) c.324C>A (p.Tyr108Ter) n.810C>A c.327C>A (p.Tyr109Ter) c.321C>A (p.Tyr107Ter) | ClinVar |
7 | g.44152311T>A | CA367402683 | GCK | c.*321A>T (n.*321A>T) c.323A>T (p.Tyr108Phe) n.809A>T c.326A>T (p.Tyr109Phe) c.320A>T (p.Tyr107Phe) | ClinVar |
7 | g.44152311T>C | CA367402684 | GCK | c.*321A>G (n.*321A>G) c.323A>G (p.Tyr108Cys) n.809A>G c.326A>G (p.Tyr109Cys) c.320A>G (p.Tyr107Cys) | ClinVar |
7 | g.44152311T>G | CA367402686 | GCK | c.*321A>C (n.*321A>C) c.323A>C (p.Tyr108Ser) n.809A>C c.326A>C (p.Tyr109Ser) c.320A>C (p.Tyr107Ser) | |
7 | g.44152312A= | CA1703637045 | GCK | c.*320T= (n.*320T=) c.322T= (p.Tyr108=) n.808T= c.325T= (p.Tyr109=) c.319T= (p.Tyr107=) | |
7 | g.44152312A>C | CA213777 | GCK | c.*320T>G (n.*320T>G) c.322T>G (p.Tyr108Asp) n.808T>G c.325T>G (p.Tyr109Asp) c.319T>G (p.Tyr107Asp) | ClinVar dbSNP |
7 | g.44152312A>G | CA367402690 | GCK | c.*320T>C (n.*320T>C) c.322T>C (p.Tyr108His) n.808T>C c.325T>C (p.Tyr109His) c.319T>C (p.Tyr107His) | ClinVar dbSNP gnomAD v4 |
7 | g.44152312A>T | CA367402688 | GCK | c.*320T>A (n.*320T>A) c.322T>A (p.Tyr108Asn) n.808T>A c.325T>A (p.Tyr109Asn) c.319T>A (p.Tyr107Asn) | |
7 | g.44152313C>A | CA367402692 | GCK | c.*319G>T (n.*319G>T) c.321G>T (p.Met107Ile) n.807G>T c.324G>T (p.Met108Ile) c.318G>T (p.Met106Ile) | |
7 | g.44152313C>G | CA367402695 | GCK | c.*319G>C (n.*319G>C) c.321G>C (p.Met107Ile) n.807G>C c.324G>C (p.Met108Ile) c.318G>C (p.Met106Ile) | |
7 | g.44152313C>T | CA367402694 | GCK | c.*319G>A (n.*319G>A) c.321G>A (p.Met107Ile) n.807G>A c.324G>A (p.Met108Ile) c.318G>A (p.Met106Ile) | |
7 | g.44152314A>C | CA367402697 | GCK | c.*318T>G (n.*318T>G) c.320T>G (p.Met107Arg) n.806T>G c.323T>G (p.Met108Arg) c.317T>G (p.Met106Arg) | |
7 | g.44152314A>G | CA367402699 | GCK | c.*318T>C (n.*318T>C) c.320T>C (p.Met107Thr) n.806T>C c.323T>C (p.Met108Thr) c.317T>C (p.Met106Thr) | gnomAD v4 |
7 | g.44152314A>T | CA367402700 | GCK | c.*318T>A (n.*318T>A) c.320T>A (p.Met107Lys) n.806T>A c.323T>A (p.Met108Lys) c.317T>A (p.Met106Lys) | |
7 | g.44152314dup | CA2573142147 | GCK | c.*318dup (n.*318dup) c.320dup (p.Met107IlefsTer14) n.806dup c.323dup (p.Met108IlefsTer14) c.317dup (p.Met106IlefsTer14) | ClinVar dbSNP |
7 | g.44152315T>A | CA367402702 | GCK | c.*317A>T (n.*317A>T) c.319A>T (p.Met107Leu) n.805A>T c.322A>T (p.Met108Leu) c.316A>T (p.Met106Leu) | |
7 | g.44152315T>C | CA367402704 | GCK | c.*317A>G (n.*317A>G) c.319A>G (p.Met107Val) n.805A>G c.322A>G (p.Met108Val) c.316A>G (p.Met106Val) | |
7 | g.44152315T>G | CA367402705 | GCK | c.*317A>C (n.*317A>C) c.319A>C (p.Met107Leu) n.805A>C c.322A>C (p.Met108Leu) c.316A>C (p.Met106Leu) | |
7 | g.44152315_44152317del | CA2695202990 | GCK | c.*315_*317del (n.*315_*317del) c.317_319del (p.Gln106_Met107delinsLeu) n.803_805del c.320_322del (p.Gln107_Met108delinsLeu) c.314_316del (p.Gln105_Met106delinsLeu) | |
7 | g.44152316C>A | CA367402708 | GCK | c.*316G>T (n.*316G>T) c.318G>T (p.Gln106His) n.804G>T c.321G>T (p.Gln107His) c.315G>T (p.Gln105His) | |
7 | g.44152316C>G | CA367402709 | GCK | c.*316G>C (n.*316G>C) c.318G>C (p.Gln106His) n.804G>C c.321G>C (p.Gln107His) c.315G>C (p.Gln105His) | ClinVar COSMIC COSMIC |
7 | g.44152316C>T | CA454610207 | GCK | c.*316G>A (n.*316G>A) c.318G>A (p.Gln106=) n.804G>A c.321G>A (p.Gln107=) c.315G>A (p.Gln105=) | |
7 | g.44152317del | CA2573052881 | GCK | c.*315del (n.*315del) c.317del (p.Gln106ArgfsTer10) n.803del c.320del (p.Gln107ArgfsTer10) c.314del (p.Gln105ArgfsTer10) | ClinVar dbSNP |
7 | g.44152317T>A | CA367402711 | GCK | c.*315A>T (n.*315A>T) c.317A>T (p.Gln106Leu) n.803A>T c.320A>T (p.Gln107Leu) c.314A>T (p.Gln105Leu) | |
7 | g.44152317T>C | CA367402712 | GCK | c.*315A>G (n.*315A>G) c.317A>G (p.Gln106Arg) n.803A>G c.320A>G (p.Gln107Arg) c.314A>G (p.Gln105Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152317T>G | CA367402714 | GCK | c.*315A>C (n.*315A>C) c.317A>C (p.Gln106Pro) n.803A>C c.320A>C (p.Gln107Pro) c.314A>C (p.Gln105Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152317T= | CA1703637046 | GCK | c.*315A= (n.*315A=) c.317A= (p.Gln106=) n.803A= c.320A= (p.Gln107=) c.314A= (p.Gln105=) | |
7 | g.44152318G>A | CA367402719 | GCK | c.*314C>T (n.*314C>T) c.316C>T (p.Gln106Ter) n.802C>T c.319C>T (p.Gln107Ter) c.313C>T (p.Gln105Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.44152318G>C | CA367402716 | GCK | c.*314C>G (n.*314C>G) c.316C>G (p.Gln106Glu) n.802C>G c.319C>G (p.Gln107Glu) c.313C>G (p.Gln105Glu) | |
7 | g.44152318G= | CA1703637047 | GCK | c.*314C= (n.*314C=) c.316C= (p.Gln106=) n.802C= c.319C= (p.Gln107=) c.313C= (p.Gln105=) | |
7 | g.44152318G>T | CA367402718 | GCK | c.*314C>A (n.*314C>A) c.316C>A (p.Gln106Lys) n.802C>A c.319C>A (p.Gln107Lys) c.313C>A (p.Gln105Lys) | |
7 | g.44152319G>A | CA4239678 | GCK | c.*313C>T (n.*313C>T) c.315C>T (p.His105=) n.801C>T c.318C>T (p.His106=) c.312C>T (p.His104=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44152319G>C | CA367402723 | GCK | c.*313C>G (n.*313C>G) c.315C>G (p.His105Gln) n.801C>G c.318C>G (p.His106Gln) c.312C>G (p.His104Gln) | |
7 | g.44152319G= | CA1703637048 | GCK | c.*313C= (n.*313C=) c.315C= (p.His105=) n.801C= c.318C= (p.His106=) c.312C= (p.His104=) | |
7 | g.44152319G>T | CA367402724 | GCK | c.*313C>A (n.*313C>A) c.315C>A (p.His105Gln) n.801C>A c.318C>A (p.His106Gln) c.312C>A (p.His104Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152320T>A | CA367402726 | GCK | c.*312A>T (n.*312A>T) c.314A>T (p.His105Leu) n.800A>T c.317A>T (p.His106Leu) c.311A>T (p.His104Leu) | |
7 | g.44152320T>C | CA367402728 | GCK | c.*312A>G (n.*312A>G) c.314A>G (p.His105Arg) n.800A>G c.317A>G (p.His106Arg) c.311A>G (p.His104Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44152320T>G | CA367402729 | GCK | c.*312A>C (n.*312A>C) c.314A>C (p.His105Pro) n.800A>C c.317A>C (p.His106Pro) c.311A>C (p.His104Pro) | |
7 | g.44152320T= | CA1703637049 | GCK | c.*312A= (n.*312A=) c.314A= (p.His105=) n.800A= c.317A= (p.His106=) c.311A= (p.His104=) | |
7 | g.44152322_44152325del | CA2695202994 | GCK | c.*309_*312del (n.*309_*312del) c.311_314del (p.Lys104ThrfsTer11) n.797_800del c.314_317del (p.Lys105ThrfsTer11) c.308_311del (p.Lys103ThrfsTer11) | |
7 | g.44152321del | CA2695202995 | GCK | c.*311del (n.*311del) c.313del (p.His105ThrfsTer11) n.799del c.316del (p.His106ThrfsTer11) c.310del (p.His104ThrfsTer11) | |
7 | g.44152321G>A | CA367402731 | GCK | c.*311C>T (n.*311C>T) c.313C>T (p.His105Tyr) n.799C>T c.316C>T (p.His106Tyr) c.310C>T (p.His104Tyr) | gnomAD v4 |
7 | g.44152321G>C | CA367402733 | GCK | c.*311C>G (n.*311C>G) c.313C>G (p.His105Asp) n.799C>G c.316C>G (p.His106Asp) c.310C>G (p.His104Asp) | |
7 | g.44152321G>T | CA367402734 | GCK | c.*311C>A (n.*311C>A) c.313C>A (p.His105Asn) n.799C>A c.316C>A (p.His106Asn) c.310C>A (p.His104Asn) | dbSNP |
7 | g.44152329_44152330insCCGTTTGGTCT | CA2695202996 | GCK | c.*311_*312insGGAGACCAAAC (n.*311_*312insGGAGACCAAAC) c.313_314insGGAGACCAAAC (p.His105ArgfsTer15) n.799_800insGGAGACCAAAC c.316_317insGGAGACCAAAC (p.His106ArgfsTer15) c.310_311insGGAGACCAAAC (p.His104ArgfsTer15) | |
7 | g.44152322T>A | CA367402735 | GCK | c.*310A>T (n.*310A>T) c.312A>T (p.Lys104Asn) n.798A>T c.315A>T (p.Lys105Asn) c.309A>T (p.Lys103Asn) | |
7 | g.44152322T>C | CA454610212 | GCK | c.*310A>G (n.*310A>G) c.312A>G (p.Lys104=) n.798A>G c.315A>G (p.Lys105=) c.309A>G (p.Lys103=) | |
7 | g.44152322T>G | CA367402736 | GCK | c.*310A>C (n.*310A>C) c.312A>C (p.Lys104Asn) n.798A>C c.315A>C (p.Lys105Asn) c.309A>C (p.Lys103Asn) | |
7 | g.44152323T>A | CA367402739 | GCK | c.*309A>T (n.*309A>T) c.311A>T (p.Lys104Ile) n.797A>T c.314A>T (p.Lys105Ile) c.308A>T (p.Lys103Ile) | |
7 | g.44152323T>C | CA367402740 | GCK | c.*309A>G (n.*309A>G) c.311A>G (p.Lys104Arg) n.797A>G c.314A>G (p.Lys105Arg) c.308A>G (p.Lys103Arg) | |
7 | g.44152323T>G | CA367402738 | GCK | c.*309A>C (n.*309A>C) c.311A>C (p.Lys104Thr) n.797A>C c.314A>C (p.Lys105Thr) c.308A>C (p.Lys103Thr) | |
7 | g.44152324T>A | CA367402742 | GCK | c.*308A>T (n.*308A>T) c.310A>T (p.Lys104Ter) n.796A>T c.313A>T (p.Lys105Ter) c.307A>T (p.Lys103Ter) | |
7 | g.44152324T>C | CA367402743 | GCK | c.*308A>G (n.*308A>G) c.310A>G (p.Lys104Glu) n.796A>G c.313A>G (p.Lys105Glu) c.307A>G (p.Lys103Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152324T>G | CA367402745 | GCK | c.*308A>C (n.*308A>C) c.310A>C (p.Lys104Gln) n.796A>C c.313A>C (p.Lys105Gln) c.307A>C (p.Lys103Gln) | |
7 | g.44152324T= | CA1703637050 | GCK | c.*308A= (n.*308A=) c.310A= (p.Lys104=) n.796A= c.313A= (p.Lys105=) c.307A= (p.Lys103=) | |
7 | g.44152325G>A | CA454610215 | GCK | c.*307C>T (n.*307C>T) c.309C>T (p.Thr103=) n.795C>T c.312C>T (p.Thr104=) c.306C>T (p.Thr102=) | |
7 | g.44152325G>C | CA454610216 | GCK | c.*307C>G (n.*307C>G) c.309C>G (p.Thr103=) n.795C>G c.312C>G (p.Thr104=) c.306C>G (p.Thr102=) | |
7 | g.44152325G>T | CA454610218 | GCK | c.*307C>A (n.*307C>A) c.309C>A (p.Thr103=) n.795C>A c.312C>A (p.Thr104=) c.306C>A (p.Thr102=) | |
7 | g.44152326G>A | CA367402747 | GCK | c.*306C>T (n.*306C>T) c.308C>T (p.Thr103Ile) n.794C>T c.311C>T (p.Thr104Ile) c.305C>T (p.Thr102Ile) | |
7 | g.44152326G>C | CA367402748 | GCK | c.*306C>G (n.*306C>G) c.308C>G (p.Thr103Ser) n.794C>G c.311C>G (p.Thr104Ser) c.305C>G (p.Thr102Ser) | ClinVar gnomAD v4 |
7 | g.44152326G= | CA1703637051 | GCK | c.*306C= (n.*306C=) c.308C= (p.Thr103=) n.794C= c.311C= (p.Thr104=) c.305C= (p.Thr102=) | |
7 | g.44152326G>T | CA367402750 | GCK | c.*306C>A (n.*306C>A) c.308C>A (p.Thr103Asn) n.794C>A c.311C>A (p.Thr104Asn) c.305C>A (p.Thr102Asn) | dbSNP |
7 | g.44152327del | CA2573142148 | GCK | c.*305del (n.*305del) c.307del (p.Thr103ProfsTer13) n.793del c.310del (p.Thr104ProfsTer13) c.304del (p.Thr102ProfsTer13) | ClinVar dbSNP |
7 | g.44152327T>A | CA367402757 | GCK | c.*305A>T (n.*305A>T) c.307A>T (p.Thr103Ser) n.793A>T c.310A>T (p.Thr104Ser) c.304A>T (p.Thr102Ser) | ClinVar dbSNP |
7 | g.44152327T>C | CA367402755 | GCK | c.*305A>G (n.*305A>G) c.307A>G (p.Thr103Ala) n.793A>G c.310A>G (p.Thr104Ala) c.304A>G (p.Thr102Ala) | gnomAD v4 |
7 | g.44152327T>G | CA367402756 | GCK | c.*305A>C (n.*305A>C) c.307A>C (p.Thr103Pro) n.793A>C c.310A>C (p.Thr104Pro) c.304A>C (p.Thr102Pro) | |
7 | g.44152327T= | CA1703637052 | GCK | c.*305A= (n.*305A=) c.307A= (p.Thr103=) n.793A= c.310A= (p.Thr104=) c.304A= (p.Thr102=) | |
7 | g.44152328C>A | CA367402759 | GCK | c.*304G>T (n.*304G>T) c.306G>T (p.Lys102Asn) n.792G>T c.309G>T (p.Lys103Asn) c.303G>T (p.Lys101Asn) | |
7 | g.44152328C>G | CA367402761 | GCK | c.*304G>C (n.*304G>C) c.306G>C (p.Lys102Asn) n.792G>C c.309G>C (p.Lys103Asn) c.303G>C (p.Lys101Asn) | gnomAD v4 |
7 | g.44152328C>T | CA454610224 | GCK | c.*304G>A (n.*304G>A) c.306G>A (p.Lys102=) n.792G>A c.309G>A (p.Lys103=) c.303G>A (p.Lys101=) | gnomAD v4 |
7 | g.44152329T>A | CA367402763 | GCK | c.*303A>T (n.*303A>T) c.305A>T (p.Lys102Met) n.791A>T c.308A>T (p.Lys103Met) c.302A>T (p.Lys101Met) | |
7 | g.44152329T>C | CA367402764 | GCK | c.*303A>G (n.*303A>G) c.305A>G (p.Lys102Arg) n.791A>G c.308A>G (p.Lys103Arg) c.302A>G (p.Lys101Arg) | |
7 | g.44152329T>G | CA367402765 | GCK | c.*303A>C (n.*303A>C) c.305A>C (p.Lys102Thr) n.791A>C c.308A>C (p.Lys103Thr) c.302A>C (p.Lys101Thr) | dbSNP |
7 | g.44152329T= | CA1703637053 | GCK | c.*303A= (n.*303A=) c.305A= (p.Lys102=) n.791A= c.308A= (p.Lys103=) c.302A= (p.Lys101=) | |
7 | g.44152330T>A | CA213775 | GCK | c.*302A>T (n.*302A>T) c.304A>T (p.Lys102Ter) n.790A>T c.307A>T (p.Lys103Ter) c.301A>T (p.Lys101Ter) | ClinVar dbSNP |
7 | g.44152330T>C | CA367402771 | GCK | c.*302A>G (n.*302A>G) c.304A>G (p.Lys102Glu) n.790A>G c.307A>G (p.Lys103Glu) c.301A>G (p.Lys101Glu) | |
7 | g.44152330T>G | CA367402769 | GCK | c.*302A>C (n.*302A>C) c.304A>C (p.Lys102Gln) n.790A>C c.307A>C (p.Lys103Gln) c.301A>C (p.Lys101Gln) | |
7 | g.44152330T= | CA1703637054 | GCK | c.*302A= (n.*302A=) c.304A= (p.Lys102=) n.790A= c.307A= (p.Lys103=) c.301A= (p.Lys101=) | |
7 | g.44152331C>A | CA454610230 | GCK | c.*301G>T (n.*301G>T) c.303G>T (p.Val101=) n.789G>T c.306G>T (p.Val102=) c.300G>T (p.Val100=) | |
7 | g.44152331C>G | CA454610231 | GCK | c.*301G>C (n.*301G>C) c.303G>C (p.Val101=) n.789G>C c.306G>C (p.Val102=) c.300G>C (p.Val100=) | |
7 | g.44152331C>T | CA454610232 | GCK | c.*301G>A (n.*301G>A) c.303G>A (p.Val101=) n.789G>A c.306G>A (p.Val102=) c.300G>A (p.Val100=) | gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152332A= | CA1703637055 | GCK | c.*300T= (n.*300T=) c.302T= (p.Val101=) n.788T= c.305T= (p.Val102=) c.299T= (p.Val100=) | |
7 | g.44152332A>C | CA367402773 | GCK | c.*300T>G (n.*300T>G) c.302T>G (p.Val101Gly) n.788T>G c.305T>G (p.Val102Gly) c.299T>G (p.Val100Gly) | |
7 | g.44152332A>G | CA367402774 | GCK | c.*300T>C (n.*300T>C) c.302T>C (p.Val101Ala) n.788T>C c.305T>C (p.Val102Ala) c.299T>C (p.Val100Ala) | dbSNP |
7 | g.44152332A>T | CA367402776 | GCK | c.*300T>A (n.*300T>A) c.302T>A (p.Val101Glu) n.788T>A c.305T>A (p.Val102Glu) c.299T>A (p.Val100Glu) | |
7 | g.44152333del | CA2695202998 | GCK | c.*299del (n.*299del) c.301del (p.Val101Ter) n.787del c.304del (p.Val102Ter) c.298del (p.Val100Ter) | |
7 | g.44152333C>A | CA367402778 | GCK | c.*299G>T (n.*299G>T) c.301G>T (p.Val101Leu) n.787G>T c.304G>T (p.Val102Leu) c.298G>T (p.Val100Leu) | ClinVar |
7 | g.44152333C= | CA1703637056 | GCK | c.*299G= (n.*299G=) c.301G= (p.Val101=) n.787G= c.304G= (p.Val102=) c.298G= (p.Val100=) | |
7 | g.44152333C>G | CA367402780 | GCK | c.*299G>C (n.*299G>C) c.301G>C (p.Val101Leu) n.787G>C c.304G>C (p.Val102Leu) c.298G>C (p.Val100Leu) | |
7 | g.44152333C>T | CA4239679 | GCK | c.*299G>A (n.*299G>A) c.301G>A (p.Val101Met) n.787G>A c.304G>A (p.Val102Met) c.298G>A (p.Val100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
7 | g.44152334G>A | CA4239680 | GCK | c.*298C>T (n.*298C>T) c.300C>T (p.Ser100=) n.786C>T c.303C>T (p.Ser101=) c.297C>T (p.Ser99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44152334G>C | CA367402783 | GCK | c.*298C>G (n.*298C>G) c.300C>G (p.Ser100Arg) n.786C>G c.303C>G (p.Ser101Arg) c.297C>G (p.Ser99Arg) | |
7 | g.44152334G= | CA1703637057 | GCK | c.*298C= (n.*298C=) c.300C= (p.Ser100=) n.786C= c.303C= (p.Ser101=) c.297C= (p.Ser99=) | |
7 | g.44152334G>T | CA367402785 | GCK | c.*298C>A (n.*298C>A) c.300C>A (p.Ser100Arg) n.786C>A c.303C>A (p.Ser101Arg) c.297C>A (p.Ser99Arg) | |
7 | g.44152335C>A | CA367402787 | GCK | c.*297G>T (n.*297G>T) c.299G>T (p.Ser100Ile) n.785G>T c.302G>T (p.Ser101Ile) c.296G>T (p.Ser99Ile) | |
7 | g.44152335C>G | CA367402788 | GCK | c.*297G>C (n.*297G>C) c.299G>C (p.Ser100Thr) n.785G>C c.302G>C (p.Ser101Thr) c.296G>C (p.Ser99Thr) | |
7 | g.44152335C>T | CA367402789 | GCK | c.*297G>A (n.*297G>A) c.299G>A (p.Ser100Asn) n.785G>A c.302G>A (p.Ser101Asn) c.296G>A (p.Ser99Asn) | |
7 | g.44152339_44152360del | CA2695203001 | GCK | c.*276_*297del (n.*276_*297del) c.278_299del (p.Glu93AlafsTer2) n.764_785del c.281_302del (p.Glu94AlafsTer2) c.275_296del (p.Glu92AlafsTer2) | |
7 | g.44152336del | CA2695203002 | GCK | c.*296del (n.*296del) c.298del (p.Ser100AlafsTer2) n.784del c.301del (p.Ser101AlafsTer2) c.295del (p.Ser99AlafsTer2) | |
7 | g.44152336T>A | CA367402793 | GCK | c.*296A>T (n.*296A>T) c.298A>T (p.Ser100Cys) n.784A>T c.301A>T (p.Ser101Cys) c.295A>T (p.Ser99Cys) | |
7 | g.44152336T>C | CA367402795 | GCK | c.*296A>G (n.*296A>G) c.298A>G (p.Ser100Gly) n.784A>G c.301A>G (p.Ser101Gly) c.295A>G (p.Ser99Gly) | dbSNP gnomAD v4 |
7 | g.44152336T>G | CA367402792 | GCK | c.*296A>C (n.*296A>C) c.298A>C (p.Ser100Arg) n.784A>C c.301A>C (p.Ser101Arg) c.295A>C (p.Ser99Arg) | |
7 | g.44152336T= | CA1703637058 | GCK | c.*296A= (n.*296A=) c.298A= (p.Ser100=) n.784A= c.301A= (p.Ser101=) c.295A= (p.Ser99=) | |
7 | g.44152337C>A | CA367402799 | GCK | c.*295G>T (n.*295G>T) c.297G>T (p.Trp99Cys) n.783G>T c.300G>T (p.Trp100Cys) c.294G>T (p.Trp98Cys) | |
7 | g.44152337C>G | CA367402797 | GCK | c.*295G>C (n.*295G>C) c.297G>C (p.Trp99Cys) n.783G>C c.300G>C (p.Trp100Cys) c.294G>C (p.Trp98Cys) | |
7 | g.44152337C>T | CA367402801 | GCK | c.*295G>A (n.*295G>A) c.297G>A (p.Trp99Ter) n.783G>A c.300G>A (p.Trp100Ter) c.294G>A (p.Trp98Ter) | |
7 | g.44152338C>A | CA367402803 | GCK | c.*294G>T (n.*294G>T) c.296G>T (p.Trp99Leu) n.782G>T c.299G>T (p.Trp100Leu) c.293G>T (p.Trp98Leu) | |
7 | g.44152338C>G | CA367402806 | GCK | c.*294G>C (n.*294G>C) c.296G>C (p.Trp99Ser) n.782G>C c.299G>C (p.Trp100Ser) c.293G>C (p.Trp98Ser) | |
7 | g.44152338C>T | CA367402804 | GCK | c.*294G>A (n.*294G>A) c.296G>A (p.Trp99Ter) n.782G>A c.299G>A (p.Trp100Ter) c.293G>A (p.Trp98Ter) | ClinVar COSMIC COSMIC |
7 | g.44152338_44152339delinsCA | CA1703637059 | GCK | c.*293_*294delinsTG (n.*293_*294delinsTG) c.295_296delinsTG (p.Trp99=) n.781_782delinsTG c.298_299delinsTG (p.Trp100=) c.292_293delinsTG (p.Trp98=) | |
7 | g.44152339del | CA645372836 | GCK | c.*293del (n.*293del) c.295del (p.Trp99GlyfsTer3) n.781del c.298del (p.Trp100GlyfsTer3) c.292del (p.Trp98GlyfsTer3) | ClinVar dbSNP |
7 | g.44152339A= | CA1703637060 | GCK | c.*293T= (n.*293T=) c.295T= (p.Trp99=) n.781T= c.298T= (p.Trp100=) c.292T= (p.Trp98=) | |
7 | g.44152339A>C | CA367402808 | GCK | c.*293T>G (n.*293T>G) c.295T>G (p.Trp99Gly) n.781T>G c.298T>G (p.Trp100Gly) c.292T>G (p.Trp98Gly) | |
7 | g.44152339A>G | CA367402811 | GCK | c.*293T>C (n.*293T>C) c.295T>C (p.Trp99Arg) n.781T>C c.298T>C (p.Trp100Arg) c.292T>C (p.Trp98Arg) | ClinVar dbSNP |
7 | g.44152339A>T | CA367402810 | GCK | c.*293T>A (n.*293T>A) c.295T>A (p.Trp99Arg) n.781T>A c.298T>A (p.Trp100Arg) c.292T>A (p.Trp98Arg) | |
7 | g.44152340C>A | CA367402812 | GCK | c.*292G>T (n.*292G>T) c.294G>T (p.Gln98His) n.780G>T c.297G>T (p.Gln99His) c.291G>T (p.Gln97His) | |
7 | g.44152340C>G | CA367402813 | GCK | c.*292G>C (n.*292G>C) c.294G>C (p.Gln98His) n.780G>C c.297G>C (p.Gln99His) c.291G>C (p.Gln97His) | |
7 | g.44152340C>T | CA454610247 | GCK | c.*292G>A (n.*292G>A) c.294G>A (p.Gln98=) n.780G>A c.297G>A (p.Gln99=) c.291G>A (p.Gln97=) | gnomAD v4 |
7 | g.44152341T>A | CA367402814 | GCK | c.*291A>T (n.*291A>T) c.293A>T (p.Gln98Leu) n.779A>T c.296A>T (p.Gln99Leu) c.290A>T (p.Gln97Leu) | |
7 | g.44152341T>C | CA367402815 | GCK | c.*291A>G (n.*291A>G) c.293A>G (p.Gln98Arg) n.779A>G c.296A>G (p.Gln99Arg) c.290A>G (p.Gln97Arg) | |
7 | g.44152341T>G | CA367402817 | GCK | c.*291A>C (n.*291A>C) c.293A>C (p.Gln98Pro) n.779A>C c.296A>C (p.Gln99Pro) c.290A>C (p.Gln97Pro) | |
7 | g.44152341dup | CA2695203003 | GCK | c.*291dup (n.*291dup) c.293dup (p.Trp99ValfsTer22) n.779dup c.296dup (p.Trp100ValfsTer22) c.290dup (p.Trp98ValfsTer22) | |
7 | g.44152342G>A | CA367402818 | GCK | c.*290C>T (n.*290C>T) c.292C>T (p.Gln98Ter) n.778C>T c.295C>T (p.Gln99Ter) c.289C>T (p.Gln97Ter) | ClinVar |
7 | g.44152342G>C | CA367402819 | GCK | c.*290C>G (n.*290C>G) c.292C>G (p.Gln98Glu) n.778C>G c.295C>G (p.Gln99Glu) c.289C>G (p.Gln97Glu) | |
7 | g.44152342G>T | CA367402820 | GCK | c.*290C>A (n.*290C>A) c.292C>A (p.Gln98Lys) n.778C>A c.295C>A (p.Gln99Lys) c.289C>A (p.Gln97Lys) | |
7 | g.44152342_44152343delinsGC | CA1703637061 | GCK | c.*289_*290delinsGC (n.*289_*290delinsGC) c.291_292delinsGC (p.Gly97=) n.777_778delinsGC c.294_295delinsGC (p.Gly98=) c.288_289delinsGC (p.Gly96=) | |
7 | g.44152343C>A | CA454610252 | GCK | c.*289G>T (n.*289G>T) c.291G>T (p.Gly97=) n.777G>T c.294G>T (p.Gly98=) c.288G>T (p.Gly96=) | |
7 | g.44152343C>G | CA454610250 | GCK | c.*289G>C (n.*289G>C) c.291G>C (p.Gly97=) n.777G>C c.294G>C (p.Gly98=) c.288G>C (p.Gly96=) | |
7 | g.44152343C>T | CA454610251 | GCK | c.*289G>A (n.*289G>A) c.291G>A (p.Gly97=) n.777G>A c.294G>A (p.Gly98=) c.288G>A (p.Gly96=) | |
7 | g.44152346dup | CA2695203004 | GCK | c.*289dup (n.*289dup) c.291dup (p.Gln98AlafsTer23) n.777dup c.294dup (p.Gln99AlafsTer23) c.288dup (p.Gln97AlafsTer23) | |
7 | g.44152346del | CA891843081 | GCK | c.*289del (n.*289del) c.291del (p.Gln98SerfsTer4) n.777del c.294del (p.Gln99SerfsTer4) c.288del (p.Gln97SerfsTer4) | ClinVar dbSNP |