UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153246G>A | CA2682576684 | GCK | c.*206+55C>T (n.*206+55C>T) c.208+55C>T (n.208+55C>T) n.694+55C>T c.211+55C>T (n.211+55C>T) c.205+55C>T (n.205+55C>T) | gnomAD v4 |
| 7 | g.44153247C= | CA1703637484 | GCK | c.*206+54G= (n.*206+54G=) c.208+54G= (n.208+54G=) n.694+54G= c.211+54G= (n.211+54G=) c.205+54G= (n.205+54G=) | |
| 7 | g.44153247C>G | CA157919859 | GCK | c.*206+54G>C (n.*206+54G>C) c.208+54G>C (n.208+54G>C) n.694+54G>C c.211+54G>C (n.211+54G>C) c.205+54G>C (n.205+54G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153248T>C | CA2682576686 | GCK | c.*206+53A>G (n.*206+53A>G) c.208+53A>G (n.208+53A>G) n.694+53A>G c.211+53A>G (n.211+53A>G) c.205+53A>G (n.205+53A>G) | gnomAD v4 |
| 7 | g.44153250G>A | CA838783457 | GCK | c.*206+51C>T (n.*206+51C>T) c.208+51C>T (n.208+51C>T) n.694+51C>T c.211+51C>T (n.211+51C>T) c.205+51C>T (n.205+51C>T) | dbSNP gnomAD v4 |
| 7 | g.44153250G>C | CA2682576688 | GCK | c.*206+51C>G (n.*206+51C>G) c.208+51C>G (n.208+51C>G) n.694+51C>G c.211+51C>G (n.211+51C>G) c.205+51C>G (n.205+51C>G) | gnomAD v4 |
| 7 | g.44153250G= | CA1703637485 | GCK | c.*206+51C= (n.*206+51C=) c.208+51C= (n.208+51C=) n.694+51C= c.211+51C= (n.211+51C=) c.205+51C= (n.205+51C=) | |
| 7 | g.44153251G>A | CA4239699 | GCK | c.*206+50C>T (n.*206+50C>T) c.208+50C>T (n.208+50C>T) n.694+50C>T c.211+50C>T (n.211+50C>T) c.205+50C>T (n.205+50C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153251G= | CA1703637486 | GCK | c.*206+50C= (n.*206+50C=) c.208+50C= (n.208+50C=) n.694+50C= c.211+50C= (n.211+50C=) c.205+50C= (n.205+50C=) | |
| 7 | g.44153252G>A | CA2682576695 | GCK | c.*206+49C>T (n.*206+49C>T) c.208+49C>T (n.208+49C>T) n.694+49C>T c.211+49C>T (n.211+49C>T) c.205+49C>T (n.205+49C>T) | gnomAD v4 |
| 7 | g.44153255G>A | CA1100761763 | GCK | c.*206+46C>T (n.*206+46C>T) c.208+46C>T (n.208+46C>T) n.694+46C>T c.211+46C>T (n.211+46C>T) c.205+46C>T (n.205+46C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153255G= | CA1703637487 | GCK | c.*206+46C= (n.*206+46C=) c.208+46C= (n.208+46C=) n.694+46C= c.211+46C= (n.211+46C=) c.205+46C= (n.205+46C=) | |
| 7 | g.44153255G>T | CA1703637488 | GCK | c.*206+46C>A (n.*206+46C>A) c.208+46C>A (n.208+46C>A) n.694+46C>A c.211+46C>A (n.211+46C>A) c.205+46C>A (n.205+46C>A) | dbSNP |
| 7 | g.44153258C= | CA1703637489 | GCK | c.*206+43G= (n.*206+43G=) c.208+43G= (n.208+43G=) n.694+43G= c.211+43G= (n.211+43G=) c.205+43G= (n.205+43G=) | |
| 7 | g.44153258C>T | CA574226420 | GCK | c.*206+43G>A (n.*206+43G>A) c.208+43G>A (n.208+43G>A) n.694+43G>A c.211+43G>A (n.211+43G>A) c.205+43G>A (n.205+43G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153259C>T | CA2775231693 | GCK | c.*206+42G>A (n.*206+42G>A) c.208+42G>A (n.208+42G>A) n.694+42G>A c.211+42G>A (n.211+42G>A) c.205+42G>A (n.205+42G>A) | |
| 7 | g.44153262C>T | CA2682576698 | GCK | c.*206+39G>A (n.*206+39G>A) c.208+39G>A (n.208+39G>A) n.694+39G>A c.211+39G>A (n.211+39G>A) c.205+39G>A (n.205+39G>A) | dbSNP gnomAD v4 |
| 7 | g.44153264G= | CA1703637490 | GCK | c.*206+37C= (n.*206+37C=) c.208+37C= (n.208+37C=) n.694+37C= c.211+37C= (n.211+37C=) c.205+37C= (n.205+37C=) | |
| 7 | g.44153264G>T | CA838783461 | GCK | c.*206+37C>A (n.*206+37C>A) c.208+37C>A (n.208+37C>A) n.694+37C>A c.211+37C>A (n.211+37C>A) c.205+37C>A (n.205+37C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153267G>A | CA4239700 | GCK | c.*206+34C>T (n.*206+34C>T) c.208+34C>T (n.208+34C>T) n.694+34C>T c.211+34C>T (n.211+34C>T) c.205+34C>T (n.205+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153267G= | CA1703637491 | GCK | c.*206+34C= (n.*206+34C=) c.208+34C= (n.208+34C=) n.694+34C= c.211+34C= (n.211+34C=) c.205+34C= (n.205+34C=) | |
| 7 | g.44153269T>C | CA574226421 | GCK | c.*206+32A>G (n.*206+32A>G) c.208+32A>G (n.208+32A>G) n.694+32A>G c.211+32A>G (n.211+32A>G) c.205+32A>G (n.205+32A>G) | dbSNP gnomAD v2 |
| 7 | g.44153269T= | CA1703637492 | GCK | c.*206+32A= (n.*206+32A=) c.208+32A= (n.208+32A=) n.694+32A= c.211+32A= (n.211+32A=) c.205+32A= (n.205+32A=) | |
| 7 | g.44153270T>A | CA2578878539 | GCK | c.*206+31A>T (n.*206+31A>T) c.208+31A>T (n.208+31A>T) n.694+31A>T c.211+31A>T (n.211+31A>T) c.205+31A>T (n.205+31A>T) | |
| 7 | g.44153271C= | CA1703637493 | GCK | c.*206+30G= (n.*206+30G=) c.208+30G= (n.208+30G=) n.694+30G= c.211+30G= (n.211+30G=) c.205+30G= (n.205+30G=) | |
| 7 | g.44153271C>T | CA1703637494 | GCK | c.*206+30G>A (n.*206+30G>A) c.208+30G>A (n.208+30G>A) n.694+30G>A c.211+30G>A (n.211+30G>A) c.205+30G>A (n.205+30G>A) | dbSNP |
| 7 | g.44153272T>C | CA2682576700 | GCK | c.*206+29A>G (n.*206+29A>G) c.208+29A>G (n.208+29A>G) n.694+29A>G c.211+29A>G (n.211+29A>G) c.205+29A>G (n.205+29A>G) | gnomAD v4 |
| 7 | g.44153277G>C | CA574226422 | GCK | c.*206+24C>G (n.*206+24C>G) c.208+24C>G (n.208+24C>G) n.694+24C>G c.211+24C>G (n.211+24C>G) c.205+24C>G (n.205+24C>G) | dbSNP gnomAD v2 |
| 7 | g.44153277G= | CA1703637495 | GCK | c.*206+24C= (n.*206+24C=) c.208+24C= (n.208+24C=) n.694+24C= c.211+24C= (n.211+24C=) c.205+24C= (n.205+24C=) | |
| 7 | g.44153277G>T | CA651289073 | GCK | c.*206+24C>A (n.*206+24C>A) c.208+24C>A (n.208+24C>A) n.694+24C>A c.211+24C>A (n.211+24C>A) c.205+24C>A (n.205+24C>A) | COSMIC |
| 7 | g.44153280G>A | CA4239701 | GCK | c.*206+21C>T (n.*206+21C>T) c.208+21C>T (n.208+21C>T) n.694+21C>T c.211+21C>T (n.211+21C>T) c.205+21C>T (n.205+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153280G= | CA1703637496 | GCK | c.*206+21C= (n.*206+21C=) c.208+21C= (n.208+21C=) n.694+21C= c.211+21C= (n.211+21C=) c.205+21C= (n.205+21C=) | |
| 7 | g.44153280G>T | CA2682576702 | GCK | c.*206+21C>A (n.*206+21C>A) c.208+21C>A (n.208+21C>A) n.694+21C>A c.211+21C>A (n.211+21C>A) c.205+21C>A (n.205+21C>A) | gnomAD v4 |
| 7 | g.44153284C>A | CA2682576705 | GCK | c.*206+17G>T (n.*206+17G>T) c.208+17G>T (n.208+17G>T) n.694+17G>T c.211+17G>T (n.211+17G>T) c.205+17G>T (n.205+17G>T) | gnomAD v4 |
| 7 | g.44153284C= | CA1703637497 | GCK | c.*206+17G= (n.*206+17G=) c.208+17G= (n.208+17G=) n.694+17G= c.211+17G= (n.211+17G=) c.205+17G= (n.205+17G=) | |
| 7 | g.44153284C>T | CA4239702 | GCK | c.*206+17G>A (n.*206+17G>A) c.208+17G>A (n.208+17G>A) n.694+17G>A c.211+17G>A (n.211+17G>A) c.205+17G>A (n.205+17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153285G>A | CA4239703 | GCK | c.*206+16C>T (n.*206+16C>T) c.208+16C>T (n.208+16C>T) n.694+16C>T c.211+16C>T (n.211+16C>T) c.205+16C>T (n.205+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153285G= | CA1703637498 | GCK | c.*206+16C= (n.*206+16C=) c.208+16C= (n.208+16C=) n.694+16C= c.211+16C= (n.211+16C=) c.205+16C= (n.205+16C=) | |
| 7 | g.44153286del | CA2682576708 | GCK | c.*206+16del (n.*206+16del) c.208+16del (n.208+16del) n.694+16del c.211+16del (n.211+16del) c.205+16del (n.205+16del) | gnomAD v4 |
| 7 | g.44153286G>A | CA1100761774 | GCK | c.*206+15C>T (n.*206+15C>T) c.208+15C>T (n.208+15C>T) n.694+15C>T c.211+15C>T (n.211+15C>T) c.205+15C>T (n.205+15C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153286G>C | CA2580618175 | GCK | c.*206+15C>G (n.*206+15C>G) c.208+15C>G (n.208+15C>G) n.694+15C>G c.211+15C>G (n.211+15C>G) c.205+15C>G (n.205+15C>G) | ClinVar |
| 7 | g.44153286G= | CA1703637499 | GCK | c.*206+15C= (n.*206+15C=) c.208+15C= (n.208+15C=) n.694+15C= c.211+15C= (n.211+15C=) c.205+15C= (n.205+15C=) | |
| 7 | g.44153286G>T | CA2682576712 | GCK | c.*206+15C>A (n.*206+15C>A) c.208+15C>A (n.208+15C>A) n.694+15C>A c.211+15C>A (n.211+15C>A) c.205+15C>A (n.205+15C>A) | gnomAD v4 |
| 7 | g.44153287T>G | CA574226423 | GCK | c.*206+14A>C (n.*206+14A>C) c.208+14A>C (n.208+14A>C) n.694+14A>C c.211+14A>C (n.211+14A>C) c.205+14A>C (n.205+14A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153287T= | CA1703637500 | GCK | c.*206+14A= (n.*206+14A=) c.208+14A= (n.208+14A=) n.694+14A= c.211+14A= (n.211+14A=) c.205+14A= (n.205+14A=) | |
| 7 | g.44153289A>G | CA2682576716 | GCK | c.*206+12T>C (n.*206+12T>C) c.208+12T>C (n.208+12T>C) n.694+12T>C c.211+12T>C (n.211+12T>C) c.205+12T>C (n.205+12T>C) | gnomAD v4 |
| 7 | g.44153290C= | CA1703637501 | GCK | c.*206+11G= (n.*206+11G=) c.208+11G= (n.208+11G=) n.694+11G= c.211+11G= (n.211+11G=) c.205+11G= (n.205+11G=) | |
| 7 | g.44153290C>T | CA209625 | GCK | c.*206+11G>A (n.*206+11G>A) c.208+11G>A (n.208+11G>A) n.694+11G>A c.211+11G>A (n.211+11G>A) c.205+11G>A (n.205+11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153291C= | CA1703637502 | GCK | c.*206+10G= (n.*206+10G=) c.208+10G= (n.208+10G=) n.694+10G= c.211+10G= (n.211+10G=) c.205+10G= (n.205+10G=) | |
| 7 | g.44153291C>G | CA454610443 | GCK | c.*206+10G>C (n.*206+10G>C) c.208+10G>C (n.208+10G>C) n.694+10G>C c.211+10G>C (n.211+10G>C) c.205+10G>C (n.205+10G>C) | COSMIC |
| 7 | g.44153291C>T | CA574226424 | GCK | c.*206+10G>A (n.*206+10G>A) c.208+10G>A (n.208+10G>A) n.694+10G>A c.211+10G>A (n.211+10G>A) c.205+10G>A (n.205+10G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153292A= | CA1703637503 | GCK | c.*206+9T= (n.*206+9T=) c.208+9T= (n.208+9T=) n.694+9T= c.211+9T= (n.211+9T=) c.205+9T= (n.205+9T=) | |
| 7 | g.44153292A>C | CA574226425 | GCK | c.*206+9T>G (n.*206+9T>G) c.208+9T>G (n.208+9T>G) n.694+9T>G c.211+9T>G (n.211+9T>G) c.205+9T>G (n.205+9T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153292A>G | CA4239704 | GCK | c.*206+9T>C (n.*206+9T>C) c.208+9T>C (n.208+9T>C) n.694+9T>C c.211+9T>C (n.211+9T>C) c.205+9T>C (n.205+9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153292A>T | CA213769 | GCK | c.*206+9T>A (n.*206+9T>A) c.208+9T>A (n.208+9T>A) n.694+9T>A c.211+9T>A (n.211+9T>A) c.205+9T>A (n.205+9T>A) | ClinVar dbSNP |
| 7 | g.44153293T>C | CA2682576721 | GCK | c.*206+8A>G (n.*206+8A>G) c.208+8A>G (n.208+8A>G) n.694+8A>G c.211+8A>G (n.211+8A>G) c.205+8A>G (n.205+8A>G) | gnomAD v4 |
| 7 | g.44153293T>G | CA157919931 | GCK | c.*206+8A>C (n.*206+8A>C) c.208+8A>C (n.208+8A>C) n.694+8A>C c.211+8A>C (n.211+8A>C) c.205+8A>C (n.205+8A>C) | dbSNP gnomAD v4 |
| 7 | g.44153293T= | CA1703637504 | GCK | c.*206+8A= (n.*206+8A=) c.208+8A= (n.208+8A=) n.694+8A= c.211+8A= (n.211+8A=) c.205+8A= (n.205+8A=) | |
| 7 | g.44153294G>A | CA2714453468 | GCK | c.*206+7C>T (n.*206+7C>T) c.208+7C>T (n.208+7C>T) n.694+7C>T c.211+7C>T (n.211+7C>T) c.205+7C>T (n.205+7C>T) | dbSNP |
| 7 | g.44153294G>T | CA2682576722 | GCK | c.*206+7C>A (n.*206+7C>A) c.208+7C>A (n.208+7C>A) n.694+7C>A c.211+7C>A (n.211+7C>A) c.205+7C>A (n.205+7C>A) | gnomAD v4 |
| 7 | g.44153295T>C | CA1703637506 | GCK | c.*206+6A>G (n.*206+6A>G) c.208+6A>G (n.208+6A>G) n.694+6A>G c.211+6A>G (n.211+6A>G) c.205+6A>G (n.205+6A>G) | dbSNP gnomAD v4 |
| 7 | g.44153295T= | CA1703637505 | GCK | c.*206+6A= (n.*206+6A=) c.208+6A= (n.208+6A=) n.694+6A= c.211+6A= (n.211+6A=) c.205+6A= (n.205+6A=) | |
| 7 | g.44153296G>A | CA838783501 | GCK | c.*206+5C>T (n.*206+5C>T) c.208+5C>T (n.208+5C>T) n.694+5C>T c.211+5C>T (n.211+5C>T) c.205+5C>T (n.205+5C>T) | dbSNP gnomAD v4 |
| 7 | g.44153296G= | CA1703637507 | GCK | c.*206+5C= (n.*206+5C=) c.208+5C= (n.208+5C=) n.694+5C= c.211+5C= (n.211+5C=) c.205+5C= (n.205+5C=) | |
| 7 | g.44153296G>T | CA2682576724 | GCK | c.*206+5C>A (n.*206+5C>A) c.208+5C>A (n.208+5C>A) n.694+5C>A c.211+5C>A (n.211+5C>A) c.205+5C>A (n.205+5C>A) | gnomAD v4 |
| 7 | g.44153297G>A | CA2578878540 | GCK | c.*206+4C>T (n.*206+4C>T) c.208+4C>T (n.208+4C>T) n.694+4C>T c.211+4C>T (n.211+4C>T) c.205+4C>T (n.205+4C>T) | |
| 7 | g.44153297G>C | CA574226426 | GCK | c.*206+4C>G (n.*206+4C>G) c.208+4C>G (n.208+4C>G) n.694+4C>G c.211+4C>G (n.211+4C>G) c.205+4C>G (n.205+4C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153297G= | CA1703637508 | GCK | c.*206+4C= (n.*206+4C=) c.208+4C= (n.208+4C=) n.694+4C= c.211+4C= (n.211+4C=) c.205+4C= (n.205+4C=) | |
| 7 | g.44153298T>A | CA500003 | GCK | c.*206+3A>T (n.*206+3A>T) c.208+3A>T (n.208+3A>T) n.694+3A>T c.211+3A>T (n.211+3A>T) c.205+3A>T (n.205+3A>T) | gnomAD v4 |
| 7 | g.44153298T>C | CA2695203014 | GCK | c.*206+3A>G (n.*206+3A>G) c.208+3A>G (n.208+3A>G) n.694+3A>G c.211+3A>G (n.211+3A>G) c.205+3A>G (n.205+3A>G) | |
| 7 | g.44153299A>C | CA367403190 | GCK | c.*206+2T>G (n.*206+2T>G) c.208+2T>G (n.208+2T>G) n.694+2T>G c.211+2T>G (n.211+2T>G) c.205+2T>G (n.205+2T>G) | |
| 7 | g.44153299A>G | CA367403194 | GCK | c.*206+2T>C (n.*206+2T>C) c.208+2T>C (n.208+2T>C) n.694+2T>C c.211+2T>C (n.211+2T>C) c.205+2T>C (n.205+2T>C) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153299A>T | CA367403192 | GCK | c.*206+2T>A (n.*206+2T>A) c.208+2T>A (n.208+2T>A) n.694+2T>A c.211+2T>A (n.211+2T>A) c.205+2T>A (n.205+2T>A) | |
| 7 | g.44153300C>A | CA367403195 | GCK | c.*206+1G>T (n.*206+1G>T) c.208+1G>T (n.208+1G>T) n.694+1G>T c.211+1G>T (n.211+1G>T) c.205+1G>T (n.205+1G>T) | |
| 7 | g.44153300C= | CA1703637509 | GCK | c.*206+1G= (n.*206+1G=) c.208+1G= (n.208+1G=) n.694+1G= c.211+1G= (n.211+1G=) c.205+1G= (n.205+1G=) | |
| 7 | g.44153300C>G | CA367403196 | GCK | c.*206+1G>C (n.*206+1G>C) c.208+1G>C (n.208+1G>C) n.694+1G>C c.211+1G>C (n.211+1G>C) c.205+1G>C (n.205+1G>C) | |
| 7 | g.44153300C>T | CA367403198 | GCK | c.*206+1G>A (n.*206+1G>A) c.208+1G>A (n.208+1G>A) n.694+1G>A c.211+1G>A (n.211+1G>A) c.205+1G>A (n.205+1G>A) | ClinVar dbSNP |
| 7 | g.44153301C>A | CA367403199 | GCK | c.*206G>T (n.*206G>T) c.208G>T (p.Glu70Ter) n.694G>T c.211G>T (p.Glu71Ter) c.205G>T (p.Glu69Ter) | |
| 7 | g.44153301C>G | CA367403201 | GCK | c.*206G>C (n.*206G>C) c.208G>C (p.Glu70Gln) n.694G>C c.211G>C (p.Glu71Gln) c.205G>C (p.Glu69Gln) | ClinVar |
| 7 | g.44153301C>T | CA367403203 | GCK | c.*206G>A (n.*206G>A) c.208G>A (p.Glu70Lys) n.694G>A c.211G>A (p.Glu71Lys) c.205G>A (p.Glu69Lys) | ClinVar dbSNP |
| 7 | g.44153302T>A | CA454610445 | GCK | c.*205A>T (n.*205A>T) c.207A>T (p.Ser69=) n.693A>T c.210A>T (p.Ser70=) c.204A>T (p.Ser68=) | |
| 7 | g.44153302T>C | CA4239705 | GCK | c.*205A>G (n.*205A>G) c.207A>G (p.Ser69=) n.693A>G c.210A>G (p.Ser70=) c.204A>G (p.Ser68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153302T>G | CA454610446 | GCK | c.*205A>C (n.*205A>C) c.207A>C (p.Ser69=) n.693A>C c.210A>C (p.Ser70=) c.204A>C (p.Ser68=) | |
| 7 | g.44153302T= | CA1703637510 | GCK | c.*205A= (n.*205A=) c.207A= (p.Ser69=) n.693A= c.210A= (p.Ser70=) c.204A= (p.Ser68=) | |
| 7 | g.44153303G>A | CA367403205 | GCK | c.*204C>T (n.*204C>T) c.206C>T (p.Ser69Leu) n.692C>T c.209C>T (p.Ser70Leu) c.203C>T (p.Ser68Leu) | |
| 7 | g.44153303G>C | CA367403207 | GCK | c.*204C>G (n.*204C>G) c.206C>G (p.Ser69Ter) n.692C>G c.209C>G (p.Ser70Ter) c.203C>G (p.Ser68Ter) | |
| 7 | g.44153303G>T | CA367403209 | GCK | c.*204C>A (n.*204C>A) c.206C>A (p.Ser69Ter) n.692C>A c.209C>A (p.Ser70Ter) c.203C>A (p.Ser68Ter) | |
| 7 | g.44153304A>C | CA367403215 | GCK | c.*203T>G (n.*203T>G) c.205T>G (p.Ser69Ala) n.691T>G c.208T>G (p.Ser70Ala) c.202T>G (p.Ser68Ala) | |
| 7 | g.44153304A>G | CA367403213 | GCK | c.*203T>C (n.*203T>C) c.205T>C (p.Ser69Pro) n.691T>C c.208T>C (p.Ser70Pro) c.202T>C (p.Ser68Pro) | |
| 7 | g.44153304A>T | CA367403211 | GCK | c.*203T>A (n.*203T>A) c.205T>A (p.Ser69Thr) n.691T>A c.208T>A (p.Ser70Thr) c.202T>A (p.Ser68Thr) | |
| 7 | g.44153305G>A | CA454610451 | GCK | c.*202C>T (n.*202C>T) c.204C>T (p.Gly68=) n.690C>T c.207C>T (p.Gly69=) c.201C>T (p.Gly67=) | |
| 7 | g.44153305G>C | CA454610452 | GCK | c.*202C>G (n.*202C>G) c.204C>G (p.Gly68=) n.690C>G c.207C>G (p.Gly69=) c.201C>G (p.Gly67=) | |
| 7 | g.44153305G>T | CA454610454 | GCK | c.*202C>A (n.*202C>A) c.204C>A (p.Gly68=) n.690C>A c.207C>A (p.Gly69=) c.201C>A (p.Gly67=) | |
| 7 | g.44153306C>A | CA367403217 | GCK | c.*201G>T (n.*201G>T) c.203G>T (p.Gly68Val) n.689G>T c.206G>T (p.Gly69Val) c.200G>T (p.Gly67Val) | |
| 7 | g.44153306C= | CA1703637511 | GCK | c.*201G= (n.*201G=) c.203G= (p.Gly68=) n.689G= c.206G= (p.Gly69=) c.200G= (p.Gly67=) | |
| 7 | g.44153306C>G | CA367403218 | GCK | c.*201G>C (n.*201G>C) c.203G>C (p.Gly68Ala) n.689G>C c.206G>C (p.Gly69Ala) c.200G>C (p.Gly67Ala) | |
| 7 | g.44153306C>T | CA157919943 | GCK | c.*201G>A (n.*201G>A) c.203G>A (p.Gly68Asp) n.689G>A c.206G>A (p.Gly69Asp) c.200G>A (p.Gly67Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153307C>A | CA367403220 | GCK | c.*200G>T (n.*200G>T) c.202G>T (p.Gly68Cys) n.688G>T c.205G>T (p.Gly69Cys) c.199G>T (p.Gly67Cys) | |
| 7 | g.44153307C>G | CA367403222 | GCK | c.*200G>C (n.*200G>C) c.202G>C (p.Gly68Arg) n.688G>C c.205G>C (p.Gly69Arg) c.199G>C (p.Gly67Arg) | |
| 7 | g.44153307C>T | CA367403223 | GCK | c.*200G>A (n.*200G>A) c.202G>A (p.Gly68Ser) n.688G>A c.205G>A (p.Gly69Ser) c.199G>A (p.Gly67Ser) | COSMIC COSMIC |
| 7 | g.44153308T>A | CA367403225 | GCK | c.*199A>T (n.*199A>T) c.201A>T (p.Glu67Asp) n.687A>T c.204A>T (p.Glu68Asp) c.198A>T (p.Glu66Asp) | |
| 7 | g.44153308T>C | CA454610459 | GCK | c.*199A>G (n.*199A>G) c.201A>G (p.Glu67=) n.687A>G c.204A>G (p.Glu68=) c.198A>G (p.Glu66=) | |
| 7 | g.44153308T>G | CA367403227 | GCK | c.*199A>C (n.*199A>C) c.201A>C (p.Glu67Asp) n.687A>C c.204A>C (p.Glu68Asp) c.198A>C (p.Glu66Asp) | |
| 7 | g.44153309T>A | CA367403229 | GCK | c.*198A>T (n.*198A>T) c.200A>T (p.Glu67Val) n.686A>T c.203A>T (p.Glu68Val) c.197A>T (p.Glu66Val) | |
| 7 | g.44153309T>C | CA367403230 | GCK | c.*198A>G (n.*198A>G) c.200A>G (p.Glu67Gly) n.686A>G c.203A>G (p.Glu68Gly) c.197A>G (p.Glu66Gly) | dbSNP |
| 7 | g.44153309T>G | CA367403232 | GCK | c.*198A>C (n.*198A>C) c.200A>C (p.Glu67Ala) n.686A>C c.203A>C (p.Glu68Ala) c.197A>C (p.Glu66Ala) | |
| 7 | g.44153309T= | CA1703637512 | GCK | c.*198A= (n.*198A=) c.200A= (p.Glu67=) n.686A= c.203A= (p.Glu68=) c.197A= (p.Glu66=) | |
| 7 | g.44153310C>A | CA367403234 | GCK | c.*197G>T (n.*197G>T) c.199G>T (p.Glu67Ter) n.685G>T c.202G>T (p.Glu68Ter) c.196G>T (p.Glu66Ter) | |
| 7 | g.44153310C>G | CA367403236 | GCK | c.*197G>C (n.*197G>C) c.199G>C (p.Glu67Gln) n.685G>C c.202G>C (p.Glu68Gln) c.196G>C (p.Glu66Gln) | |
| 7 | g.44153310C>T | CA367403237 | GCK | c.*197G>A (n.*197G>A) c.199G>A (p.Glu67Lys) n.685G>A c.202G>A (p.Glu68Lys) c.196G>A (p.Glu66Lys) | |
| 7 | g.44153311T>A | CA454610467 | GCK | c.*196A>T (n.*196A>T) c.198A>T (p.Pro66=) n.684A>T c.201A>T (p.Pro67=) c.195A>T (p.Pro65=) | |
| 7 | g.44153311T>C | CA10626144 | GCK | c.*196A>G (n.*196A>G) c.198A>G (p.Pro66=) n.684A>G c.201A>G (p.Pro67=) c.195A>G (p.Pro65=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153311T>G | CA454610466 | GCK | c.*196A>C (n.*196A>C) c.198A>C (p.Pro66=) n.684A>C c.201A>C (p.Pro67=) c.195A>C (p.Pro65=) | |
| 7 | g.44153311T= | CA1703637513 | GCK | c.*196A= (n.*196A=) c.198A= (p.Pro66=) n.684A= c.201A= (p.Pro67=) c.195A= (p.Pro65=) | |
| 7 | g.44153312G>A | CA367403239 | GCK | c.*195C>T (n.*195C>T) c.197C>T (p.Pro66Leu) n.683C>T c.200C>T (p.Pro67Leu) c.194C>T (p.Pro65Leu) | |
| 7 | g.44153312G>C | CA367403241 | GCK | c.*195C>G (n.*195C>G) c.197C>G (p.Pro66Arg) n.683C>G c.200C>G (p.Pro67Arg) c.194C>G (p.Pro65Arg) | |
| 7 | g.44153312G>T | CA367403242 | GCK | c.*195C>A (n.*195C>A) c.197C>A (p.Pro66Gln) n.683C>A c.200C>A (p.Pro67Gln) c.194C>A (p.Pro65Gln) | |
| 7 | g.44153313G>A | CA367403244 | GCK | c.*194C>T (n.*194C>T) c.196C>T (p.Pro66Ser) n.682C>T c.199C>T (p.Pro67Ser) c.193C>T (p.Pro65Ser) | COSMIC COSMIC COSMIC |
| 7 | g.44153313G>C | CA367403245 | GCK | c.*194C>G (n.*194C>G) c.196C>G (p.Pro66Ala) n.682C>G c.199C>G (p.Pro67Ala) c.193C>G (p.Pro65Ala) | |
| 7 | g.44153313G= | CA1703637514 | GCK | c.*194C= (n.*194C=) c.196C= (p.Pro66=) n.682C= c.199C= (p.Pro67=) c.193C= (p.Pro65=) | |
| 7 | g.44153313G>T | CA367403247 | GCK | c.*194C>A (n.*194C>A) c.196C>A (p.Pro66Thr) n.682C>A c.199C>A (p.Pro67Thr) c.193C>A (p.Pro65Thr) | |
| 7 | g.44153314G>A | CA454610475 | GCK | c.*193C>T (n.*193C>T) c.195C>T (p.Thr65=) n.681C>T c.198C>T (p.Thr66=) c.192C>T (p.Thr64=) | |
| 7 | g.44153314G>C | CA454610477 | GCK | c.*193C>G (n.*193C>G) c.195C>G (p.Thr65=) n.681C>G c.198C>G (p.Thr66=) c.192C>G (p.Thr64=) | |
| 7 | g.44153314G>T | CA454610474 | GCK | c.*193C>A (n.*193C>A) c.195C>A (p.Thr65=) n.681C>A c.198C>A (p.Thr66=) c.192C>A (p.Thr64=) | |
| 7 | g.44153316_44153318dup | CA1703637515 | GCK | c.*191_*193dup (n.*191_*193dup) c.193_195dup (p.Thr65_Pro66insThr) n.679_681dup c.196_198dup (p.Thr66_Pro67insThr) c.190_192dup (p.Thr64_Pro65insThr) | dbSNP |
| 7 | g.44153315G>A | CA367403249 | GCK | c.*192C>T (n.*192C>T) c.194C>T (p.Thr65Ile) n.680C>T c.197C>T (p.Thr66Ile) c.191C>T (p.Thr64Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153315G>C | CA367403251 | GCK | c.*192C>G (n.*192C>G) c.194C>G (p.Thr65Ser) n.680C>G c.197C>G (p.Thr66Ser) c.191C>G (p.Thr64Ser) | |
| 7 | g.44153315G>T | CA367403252 | GCK | c.*192C>A (n.*192C>A) c.194C>A (p.Thr65Asn) n.680C>A c.197C>A (p.Thr66Asn) c.191C>A (p.Thr64Asn) | gnomAD v4 |
| 7 | g.44153316T>A | CA501070 | GCK | c.*191A>T (n.*191A>T) c.193A>T (p.Thr65Ser) n.679A>T c.196A>T (p.Thr66Ser) c.190A>T (p.Thr64Ser) | |
| 7 | g.44153316T>C | CA367403255 | GCK | c.*191A>G (n.*191A>G) c.193A>G (p.Thr65Ala) n.679A>G c.196A>G (p.Thr66Ala) c.190A>G (p.Thr64Ala) | |
| 7 | g.44153316T>G | CA501054 | GCK | c.*191A>C (n.*191A>C) c.193A>C (p.Thr65Pro) n.679A>C c.196A>C (p.Thr66Pro) c.190A>C (p.Thr64Pro) | |
| 7 | g.44153317G>A | CA454610484 | GCK | c.*190C>T (n.*190C>T) c.192C>T (p.Ser64=) n.678C>T c.195C>T (p.Ser65=) c.189C>T (p.Ser63=) | ClinVar gnomAD v4 |
| 7 | g.44153317G>C | CA454610488 | GCK | c.*190C>G (n.*190C>G) c.192C>G (p.Ser64=) n.678C>G c.195C>G (p.Ser65=) c.189C>G (p.Ser63=) | |
| 7 | g.44153317G>T | CA454610489 | GCK | c.*190C>A (n.*190C>A) c.192C>A (p.Ser64=) n.678C>A c.195C>A (p.Ser65=) c.189C>A (p.Ser63=) | |
| 7 | g.44153318G>A | CA367403261 | GCK | c.*189C>T (n.*189C>T) c.191C>T (p.Ser64Phe) n.677C>T c.194C>T (p.Ser65Phe) c.188C>T (p.Ser63Phe) | COSMIC COSMIC |
| 7 | g.44153318G>C | CA367403259 | GCK | c.*189C>G (n.*189C>G) c.191C>G (p.Ser64Cys) n.677C>G c.194C>G (p.Ser65Cys) c.188C>G (p.Ser63Cys) | |
| 7 | g.44153318G>T | CA367403257 | GCK | c.*189C>A (n.*189C>A) c.191C>A (p.Ser64Tyr) n.677C>A c.194C>A (p.Ser65Tyr) c.188C>A (p.Ser63Tyr) | |
| 7 | g.44153319A>C | CA367403263 | GCK | c.*188T>G (n.*188T>G) c.190T>G (p.Ser64Ala) n.676T>G c.193T>G (p.Ser65Ala) c.187T>G (p.Ser63Ala) | |
| 7 | g.44153319A>G | CA367403266 | GCK | c.*188T>C (n.*188T>C) c.190T>C (p.Ser64Pro) n.676T>C c.193T>C (p.Ser65Pro) c.187T>C (p.Ser63Pro) | |
| 7 | g.44153319A>T | CA367403264 | GCK | c.*188T>A (n.*188T>A) c.190T>A (p.Ser64Thr) n.676T>A c.193T>A (p.Ser65Thr) c.187T>A (p.Ser63Thr) | |
| 7 | g.44153320G>A | CA454610494 | GCK | c.*187C>T (n.*187C>T) c.189C>T (p.Arg63=) n.675C>T c.192C>T (p.Arg64=) c.186C>T (p.Arg62=) | dbSNP gnomAD v2 |
| 7 | g.44153320G>C | CA454610492 | GCK | c.*187C>G (n.*187C>G) c.189C>G (p.Arg63=) n.675C>G c.192C>G (p.Arg64=) c.186C>G (p.Arg62=) | |
| 7 | g.44153320G= | CA1703637516 | GCK | c.*187C= (n.*187C=) c.189C= (p.Arg63=) n.675C= c.192C= (p.Arg64=) c.186C= (p.Arg62=) | |
| 7 | g.44153320G>T | CA454610493 | GCK | c.*187C>A (n.*187C>A) c.189C>A (p.Arg63=) n.675C>A c.192C>A (p.Arg64=) c.186C>A (p.Arg62=) | dbSNP |
| 7 | g.44153321C>A | CA367403268 | GCK | c.*186G>T (n.*186G>T) c.188G>T (p.Arg63Leu) n.674G>T c.191G>T (p.Arg64Leu) c.185G>T (p.Arg62Leu) | ClinVar dbSNP |
| 7 | g.44153321C= | CA1703637517 | GCK | c.*186G= (n.*186G=) c.188G= (p.Arg63=) n.674G= c.191G= (p.Arg64=) c.185G= (p.Arg62=) | |
| 7 | g.44153321C>G | CA367403270 | GCK | c.*186G>C (n.*186G>C) c.188G>C (p.Arg63Pro) n.674G>C c.191G>C (p.Arg64Pro) c.185G>C (p.Arg62Pro) | |
| 7 | g.44153321C>T | CA4239706 | GCK | c.*186G>A (n.*186G>A) c.188G>A (p.Arg63His) n.674G>A c.191G>A (p.Arg64His) c.185G>A (p.Arg62His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153322G>A | CA4239707 | GCK | c.*185C>T (n.*185C>T) c.187C>T (p.Arg63Cys) n.673C>T c.190C>T (p.Arg64Cys) c.184C>T (p.Arg62Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153322G>C | CA367403273 | GCK | c.*185C>G (n.*185C>G) c.187C>G (p.Arg63Gly) n.673C>G c.190C>G (p.Arg64Gly) c.184C>G (p.Arg62Gly) | |
| 7 | g.44153322G= | CA1703637518 | GCK | c.*185C= (n.*185C=) c.187C= (p.Arg63=) n.673C= c.190C= (p.Arg64=) c.184C= (p.Arg62=) | |
| 7 | g.44153322G>T | CA367403275 | GCK | c.*185C>A (n.*185C>A) c.187C>A (p.Arg63Ser) n.673C>A c.190C>A (p.Arg64Ser) c.184C>A (p.Arg62Ser) | |
| 7 | g.44153323del | CA2695203015 | GCK | c.*184del (n.*184del) c.186del (p.Arg63AlafsTer24) n.672del c.189del (p.Arg64AlafsTer24) c.183del (p.Arg62AlafsTer24) | |
| 7 | g.44153323C>A | CA454610505 | GCK | c.*184G>T (n.*184G>T) c.186G>T (p.Val62=) n.672G>T c.189G>T (p.Val63=) c.183G>T (p.Val61=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153323C= | CA1703637519 | GCK | c.*184G= (n.*184G=) c.186G= (p.Val62=) n.672G= c.189G= (p.Val63=) c.183G= (p.Val61=) | |
| 7 | g.44153323C>G | CA454610507 | GCK | c.*184G>C (n.*184G>C) c.186G>C (p.Val62=) n.672G>C c.189G>C (p.Val63=) c.183G>C (p.Val61=) | |
| 7 | g.44153323C>T | CA454610508 | GCK | c.*184G>A (n.*184G>A) c.186G>A (p.Val62=) n.672G>A c.189G>A (p.Val63=) c.183G>A (p.Val61=) | |
| 7 | g.44153324A= | CA1703637520 | GCK | c.*183T= (n.*183T=) c.185T= (p.Val62=) n.671T= c.188T= (p.Val63=) c.182T= (p.Val61=) | |
| 7 | g.44153324A>C | CA367403277 | GCK | c.*183T>G (n.*183T>G) c.185T>G (p.Val62Gly) n.671T>G c.188T>G (p.Val63Gly) c.182T>G (p.Val61Gly) | |
| 7 | g.44153324A>G | CA367403278 | GCK | c.*183T>C (n.*183T>C) c.185T>C (p.Val62Ala) n.671T>C c.188T>C (p.Val63Ala) c.182T>C (p.Val61Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153324A>T | CA367403280 | GCK | c.*183T>A (n.*183T>A) c.185T>A (p.Val62Glu) n.671T>A c.188T>A (p.Val63Glu) c.182T>A (p.Val61Glu) | |
| 7 | g.44153325C>A | CA367403282 | GCK | c.*182G>T (n.*182G>T) c.184G>T (p.Val62Leu) n.670G>T c.187G>T (p.Val63Leu) c.181G>T (p.Val61Leu) | |
| 7 | g.44153325C= | CA1703637521 | GCK | c.*182G= (n.*182G=) c.184G= (p.Val62=) n.670G= c.187G= (p.Val63=) c.181G= (p.Val61=) | |
| 7 | g.44153325C>G | CA367403284 | GCK | c.*182G>C (n.*182G>C) c.184G>C (p.Val62Leu) n.670G>C c.187G>C (p.Val63Leu) c.181G>C (p.Val61Leu) | |
| 7 | g.44153325C>T | CA16618472 | GCK | c.*182G>A (n.*182G>A) c.184G>A (p.Val62Met) n.670G>A c.187G>A (p.Val63Met) c.181G>A (p.Val61Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326G>A | CA4239708 | GCK | c.*181C>T (n.*181C>T) c.183C>T (p.Tyr61=) n.669C>T c.186C>T (p.Tyr62=) c.180C>T (p.Tyr60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153326G>C | CA367403286 | GCK | c.*181C>G (n.*181C>G) c.183C>G (p.Tyr61Ter) n.669C>G c.186C>G (p.Tyr62Ter) c.180C>G (p.Tyr60Ter) | |
| 7 | g.44153326G= | CA1703637522 | GCK | c.*181C= (n.*181C=) c.183C= (p.Tyr61=) n.669C= c.186C= (p.Tyr62=) c.180C= (p.Tyr60=) | |
| 7 | g.44153326G>T | CA367403288 | GCK | c.*181C>A (n.*181C>A) c.183C>A (p.Tyr61Ter) n.669C>A c.186C>A (p.Tyr62Ter) c.180C>A (p.Tyr60Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326_44153328delinsTTG | CA2695203017 | GCK | c.*179_*181delinsCAA (n.*179_*181delinsCAA) c.181_183delinsCAA (p.Tyr61Gln) n.667_669delinsCAA c.184_186delinsCAA (p.Tyr62Gln) c.178_180delinsCAA (p.Tyr60Gln) | |
| 7 | g.44153327T>A | CA367403290 | GCK | c.*180A>T (n.*180A>T) c.182A>T (p.Tyr61Phe) n.668A>T c.185A>T (p.Tyr62Phe) c.179A>T (p.Tyr60Phe) | |
| 7 | g.44153327T>C | CA367403292 | GCK | c.*180A>G (n.*180A>G) c.182A>G (p.Tyr61Cys) n.668A>G c.185A>G (p.Tyr62Cys) c.179A>G (p.Tyr60Cys) | |
| 7 | g.44153327T>G | CA367403293 | GCK | c.*180A>C (n.*180A>C) c.182A>C (p.Tyr61Ser) n.668A>C c.185A>C (p.Tyr62Ser) c.179A>C (p.Tyr60Ser) | |
| 7 | g.44153328A>C | CA367403295 | GCK | c.*179T>G (n.*179T>G) c.181T>G (p.Tyr61Asp) n.667T>G c.184T>G (p.Tyr62Asp) c.178T>G (p.Tyr60Asp) | |
| 7 | g.44153328A>G | CA367403296 | GCK | c.*179T>C (n.*179T>C) c.181T>C (p.Tyr61His) n.667T>C c.184T>C (p.Tyr62His) c.178T>C (p.Tyr60His) | |
| 7 | g.44153328A>T | CA367403298 | GCK | c.*179T>A (n.*179T>A) c.181T>A (p.Tyr61Asn) n.667T>A c.184T>A (p.Tyr62Asn) c.178T>A (p.Tyr60Asn) | ClinVar dbSNP |
| 7 | g.44153329G>A | CA454610518 | GCK | c.*178C>T (n.*178C>T) c.180C>T (p.Thr60=) n.666C>T c.183C>T (p.Thr61=) c.177C>T (p.Thr59=) | gnomAD v4 |
| 7 | g.44153329G>C | CA454610519 | GCK | c.*178C>G (n.*178C>G) c.180C>G (p.Thr60=) n.666C>G c.183C>G (p.Thr61=) c.177C>G (p.Thr59=) | |
| 7 | g.44153329G>T | CA454610520 | GCK | c.*178C>A (n.*178C>A) c.180C>A (p.Thr60=) n.666C>A c.183C>A (p.Thr61=) c.177C>A (p.Thr59=) | |
| 7 | g.44153331_44153334del | CA2682576749 | GCK | c.*175_*178del (n.*175_*178del) c.177_180del (p.Tyr61CysfsTer25) n.663_666del c.180_183del (p.Tyr62CysfsTer25) c.174_177del (p.Tyr60CysfsTer25) | gnomAD v4 |
| 7 | g.44153330G>A | CA4239709 | GCK | c.*177C>T (n.*177C>T) c.179C>T (p.Thr60Ile) n.665C>T c.182C>T (p.Thr61Ile) c.176C>T (p.Thr59Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153330G>C | CA367403301 | GCK | c.*177C>G (n.*177C>G) c.179C>G (p.Thr60Ser) n.665C>G c.182C>G (p.Thr61Ser) c.176C>G (p.Thr59Ser) | |
| 7 | g.44153330G= | CA1703637523 | GCK | c.*177C= (n.*177C=) c.179C= (p.Thr60=) n.665C= c.182C= (p.Thr61=) c.176C= (p.Thr59=) | |
| 7 | g.44153330G>T | CA367403302 | GCK | c.*177C>A (n.*177C>A) c.179C>A (p.Thr60Asn) n.665C>A c.182C>A (p.Thr61Asn) c.176C>A (p.Thr59Asn) | |
| 7 | g.44153331T>A | CA367403303 | GCK | c.*176A>T (n.*176A>T) c.178A>T (p.Thr60Ser) n.664A>T c.181A>T (p.Thr61Ser) c.175A>T (p.Thr59Ser) | |
| 7 | g.44153331T>C | CA367403304 | GCK | c.*176A>G (n.*176A>G) c.178A>G (p.Thr60Ala) n.664A>G c.181A>G (p.Thr61Ala) c.175A>G (p.Thr59Ala) | gnomAD v4 |
| 7 | g.44153331T>G | CA367403305 | GCK | c.*176A>C (n.*176A>C) c.178A>C (p.Thr60Pro) n.664A>C c.181A>C (p.Thr61Pro) c.175A>C (p.Thr59Pro) | dbSNP gnomAD v4 |
| 7 | g.44153331T= | CA1703637524 | GCK | c.*176A= (n.*176A=) c.178A= (p.Thr60=) n.664A= c.181A= (p.Thr61=) c.175A= (p.Thr59=) | |
| 7 | g.44153332G>A | CA454610523 | GCK | c.*175C>T (n.*175C>T) c.177C>T (p.Pro59=) n.663C>T c.180C>T (p.Pro60=) c.174C>T (p.Pro58=) | dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153332G>C | CA454610524 | GCK | c.*175C>G (n.*175C>G) c.177C>G (p.Pro59=) n.663C>G c.180C>G (p.Pro60=) c.174C>G (p.Pro58=) | |
| 7 | g.44153332G= | CA1703637525 | GCK | c.*175C= (n.*175C=) c.177C= (p.Pro59=) n.663C= c.180C= (p.Pro60=) c.174C= (p.Pro58=) | |
| 7 | g.44153332G>T | CA4239710 | GCK | c.*175C>A (n.*175C>A) c.177C>A (p.Pro59=) n.663C>A c.180C>A (p.Pro60=) c.174C>A (p.Pro58=) | dbSNP ExAC |
| 7 | g.44153333G>A | CA367403308 | GCK | c.*174C>T (n.*174C>T) c.176C>T (p.Pro59Leu) n.662C>T c.179C>T (p.Pro60Leu) c.173C>T (p.Pro58Leu) | |
| 7 | g.44153333G>C | CA367403306 | GCK | c.*174C>G (n.*174C>G) c.176C>G (p.Pro59Arg) n.662C>G c.179C>G (p.Pro60Arg) c.173C>G (p.Pro58Arg) | |
| 7 | g.44153333G>T | CA367403307 | GCK | c.*174C>A (n.*174C>A) c.176C>A (p.Pro59His) n.662C>A c.179C>A (p.Pro60His) c.173C>A (p.Pro58His) | |
| 7 | g.44153334G>A | CA213767 | GCK | c.*173C>T (n.*173C>T) c.175C>T (p.Pro59Ser) n.661C>T c.178C>T (p.Pro60Ser) c.172C>T (p.Pro58Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153334G>C | CA367403309 | GCK | c.*173C>G (n.*173C>G) c.175C>G (p.Pro59Ala) n.661C>G c.178C>G (p.Pro60Ala) c.172C>G (p.Pro58Ala) | ClinVar dbSNP |
| 7 | g.44153334G= | CA1703637526 | GCK | c.*173C= (n.*173C=) c.175C= (p.Pro59=) n.661C= c.178C= (p.Pro60=) c.172C= (p.Pro58=) | |
| 7 | g.44153334G>T | CA367403310 | GCK | c.*173C>A (n.*173C>A) c.175C>A (p.Pro59Thr) n.661C>A c.178C>A (p.Pro60Thr) c.172C>A (p.Pro58Thr) | |
| 7 | g.44153335C>A | CA454610533 | GCK | c.*172G>T (n.*172G>T) c.174G>T (p.Leu58=) n.660G>T c.177G>T (p.Leu59=) c.171G>T (p.Leu57=) | |
| 7 | g.44153335C>G | CA454610535 | GCK | c.*172G>C (n.*172G>C) c.174G>C (p.Leu58=) n.660G>C c.177G>C (p.Leu59=) c.171G>C (p.Leu57=) | |
| 7 | g.44153335C>T | CA454610536 | GCK | c.*172G>A (n.*172G>A) c.174G>A (p.Leu58=) n.660G>A c.177G>A (p.Leu59=) c.171G>A (p.Leu57=) | |
| 7 | g.44153336A>C | CA367403311 | GCK | c.*171T>G (n.*171T>G) c.173T>G (p.Leu58Arg) n.659T>G c.176T>G (p.Leu59Arg) c.170T>G (p.Leu57Arg) | |
| 7 | g.44153336A>G | CA500004 | GCK | c.*171T>C (n.*171T>C) c.173T>C (p.Leu58Pro) n.659T>C c.176T>C (p.Leu59Pro) c.170T>C (p.Leu57Pro) | |
| 7 | g.44153336A>T | CA367403312 | GCK | c.*171T>A (n.*171T>A) c.173T>A (p.Leu58Gln) n.659T>A c.176T>A (p.Leu59Gln) c.170T>A (p.Leu57Gln) | |
| 7 | g.44153337G>A | CA454610538 | GCK | c.*170C>T (n.*170C>T) c.172C>T (p.Leu58=) n.658C>T c.175C>T (p.Leu59=) c.169C>T (p.Leu57=) | gnomAD v4 |
| 7 | g.44153337G>C | CA367403313 | GCK | c.*170C>G (n.*170C>G) c.172C>G (p.Leu58Val) n.658C>G c.175C>G (p.Leu59Val) c.169C>G (p.Leu57Val) | |
| 7 | g.44153337G>T | CA367403314 | GCK | c.*170C>A (n.*170C>A) c.172C>A (p.Leu58Met) n.658C>A c.175C>A (p.Leu59Met) c.169C>A (p.Leu57Met) | |
| 7 | g.44153338del | CA2695203018 | GCK | c.*169del (n.*169del) c.171del (p.Met57IlefsTer30) n.657del c.174del (p.Met58IlefsTer30) c.168del (p.Met56IlefsTer30) | |
| 7 | g.44153338C>A | CA16603236 | GCK | c.*169G>T (n.*169G>T) c.171G>T (p.Met57Ile) n.657G>T c.174G>T (p.Met58Ile) c.168G>T (p.Met56Ile) | ClinVar dbSNP |
| 7 | g.44153338C= | CA1703637527 | GCK | c.*169G= (n.*169G=) c.171G= (p.Met57=) n.657G= c.174G= (p.Met58=) c.168G= (p.Met56=) | |
| 7 | g.44153338C>G | CA367403315 | GCK | c.*169G>C (n.*169G>C) c.171G>C (p.Met57Ile) n.657G>C c.174G>C (p.Met58Ile) c.168G>C (p.Met56Ile) | |
| 7 | g.44153338C>T | CA16618473 | GCK | c.*169G>A (n.*169G>A) c.171G>A (p.Met57Ile) n.657G>A c.174G>A (p.Met58Ile) c.168G>A (p.Met56Ile) | ClinVar dbSNP |
| 7 | g.44153339A>C | CA367403318 | GCK | c.*168T>G (n.*168T>G) c.170T>G (p.Met57Arg) n.656T>G c.173T>G (p.Met58Arg) c.167T>G (p.Met56Arg) | |
| 7 | g.44153339A>G | CA367403316 | GCK | c.*168T>C (n.*168T>C) c.170T>C (p.Met57Thr) n.656T>C c.173T>C (p.Met58Thr) c.167T>C (p.Met56Thr) | |
| 7 | g.44153339A>T | CA367403317 | GCK | c.*168T>A (n.*168T>A) c.170T>A (p.Met57Lys) n.656T>A c.173T>A (p.Met58Lys) c.167T>A (p.Met56Lys) | ClinVar gnomAD v4 |
| 7 | g.44153339_44153340delinsC | CA2695203019 | GCK | c.*167_*168delinsG (n.*167_*168delinsG) c.169_170delinsG (p.Met57GlyfsTer30) n.655_656delinsG c.172_173delinsG (p.Met58GlyfsTer30) c.166_167delinsG (p.Met56GlyfsTer30) | |
| 7 | g.44153340T>A | CA367403319 | GCK | c.*167A>T (n.*167A>T) c.169A>T (p.Met57Leu) n.655A>T c.172A>T (p.Met58Leu) c.166A>T (p.Met56Leu) | |
| 7 | g.44153340T>C | CA367403320 | GCK | c.*167A>G (n.*167A>G) c.169A>G (p.Met57Val) n.655A>G c.172A>G (p.Met58Val) c.166A>G (p.Met56Val) | |
| 7 | g.44153340T>G | CA367403321 | GCK | c.*167A>C (n.*167A>C) c.169A>C (p.Met57Leu) n.655A>C c.172A>C (p.Met58Leu) c.166A>C (p.Met56Leu) | |
| 7 | g.44153341del | CA2739289488 | GCK | c.*166del (n.*166del) c.168del (p.Met57CysfsTer?) n.654del c.171del (p.Met58CysfsTer?) c.165del (p.Met56CysfsTer?) | |
| 7 | g.44153341C>A | CA367403322 | GCK | c.*166G>T (n.*166G>T) c.168G>T (p.Lys56Asn) n.654G>T c.171G>T (p.Lys57Asn) c.165G>T (p.Lys55Asn) | |
| 7 | g.44153341C>G | CA367403323 | GCK | c.*166G>C (n.*166G>C) c.168G>C (p.Lys56Asn) n.654G>C c.171G>C (p.Lys57Asn) c.165G>C (p.Lys55Asn) | |
| 7 | g.44153341C>T | CA454610543 | GCK | c.*166G>A (n.*166G>A) c.168G>A (p.Lys56=) n.654G>A c.171G>A (p.Lys57=) c.165G>A (p.Lys55=) | |
| 7 | g.44153342T>A | CA367403324 | GCK | c.*165A>T (n.*165A>T) c.167A>T (p.Lys56Met) n.653A>T c.170A>T (p.Lys57Met) c.164A>T (p.Lys55Met) | |
| 7 | g.44153342T>C | CA367403325 | GCK | c.*165A>G (n.*165A>G) c.167A>G (p.Lys56Arg) n.653A>G c.170A>G (p.Lys57Arg) c.164A>G (p.Lys55Arg) | dbSNP gnomAD v4 |
| 7 | g.44153342T>G | CA367403326 | GCK | c.*165A>C (n.*165A>C) c.167A>C (p.Lys56Thr) n.653A>C c.170A>C (p.Lys57Thr) c.164A>C (p.Lys55Thr) | ClinVar |
| 7 | g.44153342T= | CA1703637528 | GCK | c.*165A= (n.*165A=) c.167A= (p.Lys56=) n.653A= c.170A= (p.Lys57=) c.164A= (p.Lys55=) | |
| 7 | g.44153343T>A | CA367403327 | GCK | c.*164A>T (n.*164A>T) c.166A>T (p.Lys56Ter) n.652A>T c.169A>T (p.Lys57Ter) c.163A>T (p.Lys55Ter) | |
| 7 | g.44153343T>C | CA367403328 | GCK | c.*164A>G (n.*164A>G) c.166A>G (p.Lys56Glu) n.652A>G c.169A>G (p.Lys57Glu) c.163A>G (p.Lys55Glu) | |
| 7 | g.44153343T>G | CA367403329 | GCK | c.*164A>C (n.*164A>C) c.166A>C (p.Lys56Gln) n.652A>C c.169A>C (p.Lys57Gln) c.163A>C (p.Lys55Gln) | |
| 7 | g.44153344C>A | CA454610547 | GCK | c.*163G>T (n.*163G>T) c.165G>T (p.Val55=) n.651G>T c.168G>T (p.Val56=) c.162G>T (p.Val54=) | |
| 7 | g.44153344C>G | CA454610548 | GCK | c.*163G>C (n.*163G>C) c.165G>C (p.Val55=) n.651G>C c.168G>C (p.Val56=) c.162G>C (p.Val54=) | |
| 7 | g.44153344C>T | CA454610549 | GCK | c.*163G>A (n.*163G>A) c.165G>A (p.Val55=) n.651G>A c.168G>A (p.Val56=) c.162G>A (p.Val54=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153345A>C | CA367403333 | GCK | c.*162T>G (n.*162T>G) c.164T>G (p.Val55Gly) n.650T>G c.167T>G (p.Val56Gly) c.161T>G (p.Val54Gly) | |
| 7 | g.44153345A>G | CA367403332 | GCK | c.*162T>C (n.*162T>C) c.164T>C (p.Val55Ala) n.650T>C c.167T>C (p.Val56Ala) c.161T>C (p.Val54Ala) | |
| 7 | g.44153345A>T | CA367403330 | GCK | c.*162T>A (n.*162T>A) c.164T>A (p.Val55Glu) n.650T>A c.167T>A (p.Val56Glu) c.161T>A (p.Val54Glu) | |
| 7 | g.44153346C>A | CA367403335 | GCK | c.*161G>T (n.*161G>T) c.163G>T (p.Val55Leu) n.649G>T c.166G>T (p.Val56Leu) c.160G>T (p.Val54Leu) | |
| 7 | g.44153346C>G | CA367403338 | GCK | c.*161G>C (n.*161G>C) c.163G>C (p.Val55Leu) n.649G>C c.166G>C (p.Val56Leu) c.160G>C (p.Val54Leu) | |
| 7 | g.44153346C>T | CA367403337 | GCK | c.*161G>A (n.*161G>A) c.163G>A (p.Val55Met) n.649G>A c.166G>A (p.Val56Met) c.160G>A (p.Val54Met) |