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.44147597_44147613del | CA2578878191 | GCK | c.*861+40_*861+56del (n.*861+40_*861+56del) c.853+50_853+66del (n.853+50_853+66del) c.866+40_866+56del (n.866+40_866+56del) c.863+40_863+56del (n.863+40_863+56del) c.860+40_860+56del (n.860+40_860+56del) c.812+40_812+56del (n.812+40_812+56del) | |
| 7 | g.44147602A= | CA1703634834 | GCK | c.*861+48T= (n.*861+48T=) c.853+58T= (n.853+58T=) c.866+48T= (n.866+48T=) c.863+48T= (n.863+48T=) c.860+48T= (n.860+48T=) c.812+48T= (n.812+48T=) | |
| 7 | g.44147602A>G | CA4239499 | GCK | c.*861+48T>C (n.*861+48T>C) c.853+58T>C (n.853+58T>C) c.866+48T>C (n.866+48T>C) c.863+48T>C (n.863+48T>C) c.860+48T>C (n.860+48T>C) c.812+48T>C (n.812+48T>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.44147603C= | CA1703634835 | GCK | c.*861+47G= (n.*861+47G=) c.853+57G= (n.853+57G=) c.866+47G= (n.866+47G=) c.863+47G= (n.863+47G=) c.860+47G= (n.860+47G=) c.812+47G= (n.812+47G=) | |
| 7 | g.44147603C>G | CA2775231007 | GCK | c.*861+47G>C (n.*861+47G>C) c.853+57G>C (n.853+57G>C) c.866+47G>C (n.866+47G>C) c.863+47G>C (n.863+47G>C) c.860+47G>C (n.860+47G>C) c.812+47G>C (n.812+47G>C) | |
| 7 | g.44147603C>T | CA1703634836 | GCK | c.*861+47G>A (n.*861+47G>A) c.853+57G>A (n.853+57G>A) c.866+47G>A (n.866+47G>A) c.863+47G>A (n.863+47G>A) c.860+47G>A (n.860+47G>A) c.812+47G>A (n.812+47G>A) | dbSNP gnomAD v4 |
| 7 | g.44147604C>A | CA4239500 | GCK | c.*861+46G>T (n.*861+46G>T) c.853+56G>T (n.853+56G>T) c.866+46G>T (n.866+46G>T) c.863+46G>T (n.863+46G>T) c.860+46G>T (n.860+46G>T) c.812+46G>T (n.812+46G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147604C= | CA1703634837 | GCK | c.*861+46G= (n.*861+46G=) c.853+56G= (n.853+56G=) c.866+46G= (n.866+46G=) c.863+46G= (n.863+46G=) c.860+46G= (n.860+46G=) c.812+46G= (n.812+46G=) | |
| 7 | g.44147604C>G | CA574226389 | GCK | c.*861+46G>C (n.*861+46G>C) c.853+56G>C (n.853+56G>C) c.866+46G>C (n.866+46G>C) c.863+46G>C (n.863+46G>C) c.860+46G>C (n.860+46G>C) c.812+46G>C (n.812+46G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147604C>T | CA1703634838 | GCK | c.*861+46G>A (n.*861+46G>A) c.853+56G>A (n.853+56G>A) c.866+46G>A (n.866+46G>A) c.863+46G>A (n.863+46G>A) c.860+46G>A (n.860+46G>A) c.812+46G>A (n.812+46G>A) | dbSNP |
| 7 | g.44147605A= | CA1703634839 | GCK | c.*861+45T= (n.*861+45T=) c.853+55T= (n.853+55T=) c.866+45T= (n.866+45T=) c.863+45T= (n.863+45T=) c.860+45T= (n.860+45T=) c.812+45T= (n.812+45T=) | |
| 7 | g.44147605A>C | CA2682588691 | GCK | c.*861+45T>G (n.*861+45T>G) c.853+55T>G (n.853+55T>G) c.866+45T>G (n.866+45T>G) c.863+45T>G (n.863+45T>G) c.860+45T>G (n.860+45T>G) c.812+45T>G (n.812+45T>G) | gnomAD v4 |
| 7 | g.44147605A>G | CA1703634840 | GCK | c.*861+45T>C (n.*861+45T>C) c.853+55T>C (n.853+55T>C) c.866+45T>C (n.866+45T>C) c.863+45T>C (n.863+45T>C) c.860+45T>C (n.860+45T>C) c.812+45T>C (n.812+45T>C) | dbSNP gnomAD v4 |
| 7 | g.44147605A>T | CA574226390 | GCK | c.*861+45T>A (n.*861+45T>A) c.853+55T>A (n.853+55T>A) c.866+45T>A (n.866+45T>A) c.863+45T>A (n.863+45T>A) c.860+45T>A (n.860+45T>A) c.812+45T>A (n.812+45T>A) | dbSNP gnomAD v2 |
| 7 | g.44147608G>A | CA2578878192 | GCK | c.*861+42C>T (n.*861+42C>T) c.853+52C>T (n.853+52C>T) c.866+42C>T (n.866+42C>T) c.863+42C>T (n.863+42C>T) c.860+42C>T (n.860+42C>T) c.812+42C>T (n.812+42C>T) | |
| 7 | g.44147609C>A | CA2682588697 | GCK | c.*861+41G>T (n.*861+41G>T) c.853+51G>T (n.853+51G>T) c.866+41G>T (n.866+41G>T) c.863+41G>T (n.863+41G>T) c.860+41G>T (n.860+41G>T) c.812+41G>T (n.812+41G>T) | gnomAD v4 |
| 7 | g.44147609C= | CA1703634841 | GCK | c.*861+41G= (n.*861+41G=) c.853+51G= (n.853+51G=) c.866+41G= (n.866+41G=) c.863+41G= (n.863+41G=) c.860+41G= (n.860+41G=) c.812+41G= (n.812+41G=) | |
| 7 | g.44147609C>T | CA4239501 | GCK | c.*861+41G>A (n.*861+41G>A) c.853+51G>A (n.853+51G>A) c.866+41G>A (n.866+41G>A) c.863+41G>A (n.863+41G>A) c.860+41G>A (n.860+41G>A) c.812+41G>A (n.812+41G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147610G>A | CA4239502 | GCK | c.*861+40C>T (n.*861+40C>T) c.853+50C>T (n.853+50C>T) c.866+40C>T (n.866+40C>T) c.863+40C>T (n.863+40C>T) c.860+40C>T (n.860+40C>T) c.812+40C>T (n.812+40C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.44147610G= | CA1703634842 | GCK | c.*861+40C= (n.*861+40C=) c.853+50C= (n.853+50C=) c.866+40C= (n.866+40C=) c.863+40C= (n.863+40C=) c.860+40C= (n.860+40C=) c.812+40C= (n.812+40C=) | |
| 7 | g.44147610G>T | CA157915545 | GCK | c.*861+40C>A (n.*861+40C>A) c.853+50C>A (n.853+50C>A) c.866+40C>A (n.866+40C>A) c.863+40C>A (n.863+40C>A) c.860+40C>A (n.860+40C>A) c.812+40C>A (n.812+40C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147611G>A | CA2682588704 | GCK | c.*861+39C>T (n.*861+39C>T) c.853+49C>T (n.853+49C>T) c.866+39C>T (n.866+39C>T) c.863+39C>T (n.863+39C>T) c.860+39C>T (n.860+39C>T) c.812+39C>T (n.812+39C>T) | gnomAD v4 |
| 7 | g.44147611G= | CA1703634843 | GCK | c.*861+39C= (n.*861+39C=) c.853+49C= (n.853+49C=) c.866+39C= (n.866+39C=) c.863+39C= (n.863+39C=) c.860+39C= (n.860+39C=) c.812+39C= (n.812+39C=) | |
| 7 | g.44147611G>T | CA157915547 | GCK | c.*861+39C>A (n.*861+39C>A) c.853+49C>A (n.853+49C>A) c.866+39C>A (n.866+39C>A) c.863+39C>A (n.863+39C>A) c.860+39C>A (n.860+39C>A) c.812+39C>A (n.812+39C>A) | dbSNP gnomAD v4 |
| 7 | g.44147612C= | CA1703634844 | GCK | c.*861+38G= (n.*861+38G=) c.853+48G= (n.853+48G=) c.866+38G= (n.866+38G=) c.863+38G= (n.863+38G=) c.860+38G= (n.860+38G=) c.812+38G= (n.812+38G=) | |
| 7 | g.44147612C>T | CA574226391 | GCK | c.*861+38G>A (n.*861+38G>A) c.853+48G>A (n.853+48G>A) c.866+38G>A (n.866+38G>A) c.863+38G>A (n.863+38G>A) c.860+38G>A (n.860+38G>A) c.812+38G>A (n.812+38G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147617G>A | CA1100759477 | GCK | c.*861+33C>T (n.*861+33C>T) c.853+43C>T (n.853+43C>T) c.866+33C>T (n.866+33C>T) c.863+33C>T (n.863+33C>T) c.860+33C>T (n.860+33C>T) c.812+33C>T (n.812+33C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147617G= | CA1703634845 | GCK | c.*861+33C= (n.*861+33C=) c.853+43C= (n.853+43C=) c.866+33C= (n.866+33C=) c.863+33C= (n.863+33C=) c.860+33C= (n.860+33C=) c.812+33C= (n.812+33C=) | |
| 7 | g.44147617G>T | CA2578878193 | GCK | c.*861+33C>A (n.*861+33C>A) c.853+43C>A (n.853+43C>A) c.866+33C>A (n.866+33C>A) c.863+33C>A (n.863+33C>A) c.860+33C>A (n.860+33C>A) c.812+33C>A (n.812+33C>A) | gnomAD v4 |
| 7 | g.44147618G>A | CA2578878194 | GCK | c.*861+32C>T (n.*861+32C>T) c.853+42C>T (n.853+42C>T) c.866+32C>T (n.866+32C>T) c.863+32C>T (n.863+32C>T) c.860+32C>T (n.860+32C>T) c.812+32C>T (n.812+32C>T) | |
| 7 | g.44147618G= | CA1703634846 | GCK | c.*861+32C= (n.*861+32C=) c.853+42C= (n.853+42C=) c.866+32C= (n.866+32C=) c.863+32C= (n.863+32C=) c.860+32C= (n.860+32C=) c.812+32C= (n.812+32C=) | |
| 7 | g.44147618G>T | CA4239503 | GCK | c.*861+32C>A (n.*861+32C>A) c.853+42C>A (n.853+42C>A) c.866+32C>A (n.866+32C>A) c.863+32C>A (n.863+32C>A) c.860+32C>A (n.860+32C>A) c.812+32C>A (n.812+32C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147619C>A | CA2682588721 | GCK | c.*861+31G>T (n.*861+31G>T) c.853+41G>T (n.853+41G>T) c.866+31G>T (n.866+31G>T) c.863+31G>T (n.863+31G>T) c.860+31G>T (n.860+31G>T) c.812+31G>T (n.812+31G>T) | gnomAD v4 |
| 7 | g.44147620C>T | CA2682588726 | GCK | c.*861+30G>A (n.*861+30G>A) c.853+40G>A (n.853+40G>A) c.866+30G>A (n.866+30G>A) c.863+30G>A (n.863+30G>A) c.860+30G>A (n.860+30G>A) c.812+30G>A (n.812+30G>A) | gnomAD v4 |
| 7 | g.44147621T>C | CA574226392 | GCK | c.*861+29A>G (n.*861+29A>G) c.853+39A>G (n.853+39A>G) c.866+29A>G (n.866+29A>G) c.863+29A>G (n.863+29A>G) c.860+29A>G (n.860+29A>G) c.812+29A>G (n.812+29A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147621T>G | CA2682588727 | GCK | c.*861+29A>C (n.*861+29A>C) c.853+39A>C (n.853+39A>C) c.866+29A>C (n.866+29A>C) c.863+29A>C (n.863+29A>C) c.860+29A>C (n.860+29A>C) c.812+29A>C (n.812+29A>C) | gnomAD v4 |
| 7 | g.44147621T= | CA1703634847 | GCK | c.*861+29A= (n.*861+29A=) c.853+39A= (n.853+39A=) c.866+29A= (n.866+29A=) c.863+29A= (n.863+29A=) c.860+29A= (n.860+29A=) c.812+29A= (n.812+29A=) | |
| 7 | g.44147622G>A | CA157915548 | GCK | c.*861+28C>T (n.*861+28C>T) c.853+38C>T (n.853+38C>T) c.866+28C>T (n.866+28C>T) c.863+28C>T (n.863+28C>T) c.860+28C>T (n.860+28C>T) c.812+28C>T (n.812+28C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147622G= | CA1703634848 | GCK | c.*861+28C= (n.*861+28C=) c.853+38C= (n.853+38C=) c.866+28C= (n.866+28C=) c.863+28C= (n.863+28C=) c.860+28C= (n.860+28C=) c.812+28C= (n.812+28C=) | |
| 7 | g.44147623G>A | CA4239504 | GCK | c.*861+27C>T (n.*861+27C>T) c.853+37C>T (n.853+37C>T) c.866+27C>T (n.866+27C>T) c.863+27C>T (n.863+27C>T) c.860+27C>T (n.860+27C>T) c.812+27C>T (n.812+27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147623G= | CA1703634849 | GCK | c.*861+27C= (n.*861+27C=) c.853+37C= (n.853+37C=) c.866+27C= (n.866+27C=) c.863+27C= (n.863+27C=) c.860+27C= (n.860+27C=) c.812+27C= (n.812+27C=) | |
| 7 | g.44147624G>C | CA4239505 | GCK | c.*861+26C>G (n.*861+26C>G) c.853+36C>G (n.853+36C>G) c.866+26C>G (n.866+26C>G) c.863+26C>G (n.863+26C>G) c.860+26C>G (n.860+26C>G) c.812+26C>G (n.812+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147624G= | CA1703634850 | GCK | c.*861+26C= (n.*861+26C=) c.853+36C= (n.853+36C=) c.866+26C= (n.866+26C=) c.863+26C= (n.863+26C=) c.860+26C= (n.860+26C=) c.812+26C= (n.812+26C=) | |
| 7 | g.44147625T>C | CA574226395 | GCK | c.*861+25A>G (n.*861+25A>G) c.853+35A>G (n.853+35A>G) c.866+25A>G (n.866+25A>G) c.863+25A>G (n.863+25A>G) c.860+25A>G (n.860+25A>G) c.812+25A>G (n.812+25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147625T= | CA1703634851 | GCK | c.*861+25A= (n.*861+25A=) c.853+35A= (n.853+35A=) c.866+25A= (n.866+25A=) c.863+25A= (n.863+25A=) c.860+25A= (n.860+25A=) c.812+25A= (n.812+25A=) | |
| 7 | g.44147626T>C | CA2682588732 | GCK | c.*861+24A>G (n.*861+24A>G) c.853+34A>G (n.853+34A>G) c.866+24A>G (n.866+24A>G) c.863+24A>G (n.863+24A>G) c.860+24A>G (n.860+24A>G) c.812+24A>G (n.812+24A>G) | gnomAD v4 |
| 7 | g.44147628T>C | CA4239506 | GCK | c.*861+22A>G (n.*861+22A>G) c.853+32A>G (n.853+32A>G) c.866+22A>G (n.866+22A>G) c.863+22A>G (n.863+22A>G) c.860+22A>G (n.860+22A>G) c.812+22A>G (n.812+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147628T= | CA1703634852 | GCK | c.*861+22A= (n.*861+22A=) c.853+32A= (n.853+32A=) c.866+22A= (n.866+22A=) c.863+22A= (n.863+22A=) c.860+22A= (n.860+22A=) c.812+22A= (n.812+22A=) | |
| 7 | g.44147629G>A | CA4239507 | GCK | c.*861+21C>T (n.*861+21C>T) c.853+31C>T (n.853+31C>T) c.866+21C>T (n.866+21C>T) c.863+21C>T (n.863+21C>T) c.860+21C>T (n.860+21C>T) c.812+21C>T (n.812+21C>T) | dbSNP ExAC gnomAD v4 |
| 7 | g.44147629G>C | CA157915553 | GCK | c.*861+21C>G (n.*861+21C>G) c.853+31C>G (n.853+31C>G) c.866+21C>G (n.866+21C>G) c.863+21C>G (n.863+21C>G) c.860+21C>G (n.860+21C>G) c.812+21C>G (n.812+21C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147629G= | CA1703634853 | GCK | c.*861+21C= (n.*861+21C=) c.853+31C= (n.853+31C=) c.866+21C= (n.866+21C=) c.863+21C= (n.863+21C=) c.860+21C= (n.860+21C=) c.812+21C= (n.812+21C=) | |
| 7 | g.44147629G>T | CA4239508 | GCK | c.*861+21C>A (n.*861+21C>A) c.853+31C>A (n.853+31C>A) c.866+21C>A (n.866+21C>A) c.863+21C>A (n.863+21C>A) c.860+21C>A (n.860+21C>A) c.812+21C>A (n.812+21C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147633del | CA2682588737 | GCK | c.*861+21del (n.*861+21del) c.853+31del (n.853+31del) c.866+21del (n.866+21del) c.863+21del (n.863+21del) c.860+21del (n.860+21del) c.812+21del (n.812+21del) | gnomAD v4 |
| 7 | g.44147630G>C | CA1703634855 | GCK | c.*861+20C>G (n.*861+20C>G) c.853+30C>G (n.853+30C>G) c.866+20C>G (n.866+20C>G) c.863+20C>G (n.863+20C>G) c.860+20C>G (n.860+20C>G) c.812+20C>G (n.812+20C>G) | dbSNP |
| 7 | g.44147630G= | CA1703634854 | GCK | c.*861+20C= (n.*861+20C=) c.853+30C= (n.853+30C=) c.866+20C= (n.866+20C=) c.863+20C= (n.863+20C=) c.860+20C= (n.860+20C=) c.812+20C= (n.812+20C=) | |
| 7 | g.44147631G>A | CA4239509 | GCK | c.*861+19C>T (n.*861+19C>T) c.853+29C>T (n.853+29C>T) c.866+19C>T (n.866+19C>T) c.863+19C>T (n.863+19C>T) c.860+19C>T (n.860+19C>T) c.812+19C>T (n.812+19C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147631G= | CA1703634856 | GCK | c.*861+19C= (n.*861+19C=) c.853+29C= (n.853+29C=) c.866+19C= (n.866+19C=) c.863+19C= (n.863+19C=) c.860+19C= (n.860+19C=) c.812+19C= (n.812+19C=) | |
| 7 | g.44147632G>T | CA2682588742 | GCK | c.*861+18C>A (n.*861+18C>A) c.853+28C>A (n.853+28C>A) c.866+18C>A (n.866+18C>A) c.863+18C>A (n.863+18C>A) c.860+18C>A (n.860+18C>A) c.812+18C>A (n.812+18C>A) | gnomAD v4 |
| 7 | g.44147633G>A | CA574226396 | GCK | c.*861+17C>T (n.*861+17C>T) c.853+27C>T (n.853+27C>T) c.866+17C>T (n.866+17C>T) c.863+17C>T (n.863+17C>T) c.860+17C>T (n.860+17C>T) c.812+17C>T (n.812+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147633G>C | CA574226397 | GCK | c.*861+17C>G (n.*861+17C>G) c.853+27C>G (n.853+27C>G) c.866+17C>G (n.866+17C>G) c.863+17C>G (n.863+17C>G) c.860+17C>G (n.860+17C>G) c.812+17C>G (n.812+17C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147633G= | CA1703634857 | GCK | c.*861+17C= (n.*861+17C=) c.853+27C= (n.853+27C=) c.866+17C= (n.866+17C=) c.863+17C= (n.863+17C=) c.860+17C= (n.860+17C=) c.812+17C= (n.812+17C=) | |
| 7 | g.44147634A= | CA1703634859 | GCK | c.*861+16T= (n.*861+16T=) c.853+26T= (n.853+26T=) c.866+16T= (n.866+16T=) c.863+16T= (n.863+16T=) c.860+16T= (n.860+16T=) c.812+16T= (n.812+16T=) | |
| 7 | g.44147634A>G | CA574226398 | GCK | c.*861+16T>C (n.*861+16T>C) c.853+26T>C (n.853+26T>C) c.866+16T>C (n.866+16T>C) c.863+16T>C (n.863+16T>C) c.860+16T>C (n.860+16T>C) c.812+16T>C (n.812+16T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147634_44147635delinsAG | CA1703634858 | GCK | c.*861+15_*861+16delinsCT (n.*861+15_*861+16delinsCT) c.853+25_853+26delinsCT (n.853+25_853+26delinsCT) c.866+15_866+16delinsCT (n.866+15_866+16delinsCT) c.863+15_863+16delinsCT (n.863+15_863+16delinsCT) c.860+15_860+16delinsCT (n.860+15_860+16delinsCT) c.812+15_812+16delinsCT (n.812+15_812+16delinsCT) | |
| 7 | g.44147635G>T | CA2682588748 | GCK | c.*861+15C>A (n.*861+15C>A) c.853+25C>A (n.853+25C>A) c.866+15C>A (n.866+15C>A) c.863+15C>A (n.863+15C>A) c.860+15C>A (n.860+15C>A) c.812+15C>A (n.812+15C>A) | gnomAD v4 |
| 7 | g.44147640dup | CA574226399 | GCK | c.*861+15dup (n.*861+15dup) c.853+25dup (n.853+25dup) c.866+15dup (n.866+15dup) c.863+15dup (n.863+15dup) c.860+15dup (n.860+15dup) c.812+15dup (n.812+15dup) | gnomAD v2 gnomAD v4 |
| 7 | g.44147640del | CA4239510 | GCK | c.*861+15del (n.*861+15del) c.853+25del (n.853+25del) c.866+15del (n.866+15del) c.863+15del (n.863+15del) c.860+15del (n.860+15del) c.812+15del (n.812+15del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147636G>A | CA2682588750 | GCK | c.*861+14C>T (n.*861+14C>T) c.853+24C>T (n.853+24C>T) c.866+14C>T (n.866+14C>T) c.863+14C>T (n.863+14C>T) c.860+14C>T (n.860+14C>T) c.812+14C>T (n.812+14C>T) | gnomAD v4 |
| 7 | g.44147636G= | CA1703634861 | GCK | c.*861+14C= (n.*861+14C=) c.853+24C= (n.853+24C=) c.866+14C= (n.866+14C=) c.863+14C= (n.863+14C=) c.860+14C= (n.860+14C=) c.812+14C= (n.812+14C=) | |
| 7 | g.44147636G>T | CA1703634860 | GCK | c.*861+14C>A (n.*861+14C>A) c.853+24C>A (n.853+24C>A) c.866+14C>A (n.866+14C>A) c.863+14C>A (n.863+14C>A) c.860+14C>A (n.860+14C>A) c.812+14C>A (n.812+14C>A) | dbSNP gnomAD v4 |
| 7 | g.44147637G>T | CA2682588754 | GCK | c.*861+13C>A (n.*861+13C>A) c.853+23C>A (n.853+23C>A) c.866+13C>A (n.866+13C>A) c.863+13C>A (n.863+13C>A) c.860+13C>A (n.860+13C>A) c.812+13C>A (n.812+13C>A) | gnomAD v4 |
| 7 | g.44147638G>T | CA2682588756 | GCK | c.*861+12C>A (n.*861+12C>A) c.853+22C>A (n.853+22C>A) c.866+12C>A (n.866+12C>A) c.863+12C>A (n.863+12C>A) c.860+12C>A (n.860+12C>A) c.812+12C>A (n.812+12C>A) | gnomAD v4 |
| 7 | g.44147639G= | CA1703634862 | GCK | c.*861+11C= (n.*861+11C=) c.853+21C= (n.853+21C=) c.866+11C= (n.866+11C=) c.863+11C= (n.863+11C=) c.860+11C= (n.860+11C=) c.812+11C= (n.812+11C=) | |
| 7 | g.44147639G>T | CA1100759507 | GCK | c.*861+11C>A (n.*861+11C>A) c.853+21C>A (n.853+21C>A) c.866+11C>A (n.866+11C>A) c.863+11C>A (n.863+11C>A) c.860+11C>A (n.860+11C>A) c.812+11C>A (n.812+11C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147640G>A | CA2682588761 | GCK | c.*861+10C>T (n.*861+10C>T) c.853+20C>T (n.853+20C>T) c.866+10C>T (n.866+10C>T) c.863+10C>T (n.863+10C>T) c.860+10C>T (n.860+10C>T) c.812+10C>T (n.812+10C>T) | gnomAD v4 |
| 7 | g.44147640G>C | CA574226400 | GCK | c.*861+10C>G (n.*861+10C>G) c.853+20C>G (n.853+20C>G) c.866+10C>G (n.866+10C>G) c.863+10C>G (n.863+10C>G) c.860+10C>G (n.860+10C>G) c.812+10C>G (n.812+10C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147640G= | CA1703634863 | GCK | c.*861+10C= (n.*861+10C=) c.853+20C= (n.853+20C=) c.866+10C= (n.866+10C=) c.863+10C= (n.863+10C=) c.860+10C= (n.860+10C=) c.812+10C= (n.812+10C=) | |
| 7 | g.44147640G>T | CA838779148 | GCK | c.*861+10C>A (n.*861+10C>A) c.853+20C>A (n.853+20C>A) c.866+10C>A (n.866+10C>A) c.863+10C>A (n.863+10C>A) c.860+10C>A (n.860+10C>A) c.812+10C>A (n.812+10C>A) | dbSNP |
| 7 | g.44147640_44147641delinsGC | CA1703634864 | GCK | c.*861+9_*861+10delinsGC (n.*861+9_*861+10delinsGC) c.853+19_853+20delinsGC (n.853+19_853+20delinsGC) c.866+9_866+10delinsGC (n.866+9_866+10delinsGC) c.863+9_863+10delinsGC (n.863+9_863+10delinsGC) c.860+9_860+10delinsGC (n.860+9_860+10delinsGC) c.812+9_812+10delinsGC (n.812+9_812+10delinsGC) | |
| 7 | g.44147641del | CA574226401 | GCK | c.*861+9del (n.*861+9del) c.853+19del (n.853+19del) c.866+9del (n.866+9del) c.863+9del (n.863+9del) c.860+9del (n.860+9del) c.812+9del (n.812+9del) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147644C>A | CA1703634866 | GCK | c.*861+6G>T (n.*861+6G>T) c.853+16G>T (n.853+16G>T) c.866+6G>T (n.866+6G>T) c.863+6G>T (n.863+6G>T) c.860+6G>T (n.860+6G>T) c.812+6G>T (n.812+6G>T) | dbSNP |
| 7 | g.44147644C= | CA1703634865 | GCK | c.*861+6G= (n.*861+6G=) c.853+16G= (n.853+16G=) c.866+6G= (n.866+6G=) c.863+6G= (n.863+6G=) c.860+6G= (n.860+6G=) c.812+6G= (n.812+6G=) | |
| 7 | g.44147645C>A | CA2695203079 | GCK | c.*861+5G>T (n.*861+5G>T) c.853+15G>T (n.853+15G>T) c.866+5G>T (n.866+5G>T) c.863+5G>T (n.863+5G>T) c.860+5G>T (n.860+5G>T) c.812+5G>T (n.812+5G>T) | ClinVar |
| 7 | g.44147645C>T | CA2580618177 | GCK | c.*861+5G>A (n.*861+5G>A) c.853+15G>A (n.853+15G>A) c.866+5G>A (n.866+5G>A) c.863+5G>A (n.863+5G>A) c.860+5G>A (n.860+5G>A) c.812+5G>A (n.812+5G>A) | ClinVar |
| 7 | g.44147647T>C | CA213858 | GCK | c.*861+3A>G (n.*861+3A>G) c.853+13A>G (n.853+13A>G) c.866+3A>G (n.866+3A>G) c.863+3A>G (n.863+3A>G) c.860+3A>G (n.860+3A>G) c.812+3A>G (n.812+3A>G) | ClinVar dbSNP |
| 7 | g.44147647T= | CA1703634867 | GCK | c.*861+3A= (n.*861+3A=) c.853+13A= (n.853+13A=) c.866+3A= (n.866+3A=) c.863+3A= (n.863+3A=) c.860+3A= (n.860+3A=) c.812+3A= (n.812+3A=) | |
| 7 | g.44147648A>C | CA367400392 | GCK | c.*861+2T>G (n.*861+2T>G) c.853+12T>G (n.853+12T>G) c.866+2T>G (n.866+2T>G) c.863+2T>G (n.863+2T>G) c.860+2T>G (n.860+2T>G) c.812+2T>G (n.812+2T>G) | |
| 7 | g.44147648A>G | CA367400393 | GCK | c.*861+2T>C (n.*861+2T>C) c.853+12T>C (n.853+12T>C) c.866+2T>C (n.866+2T>C) c.863+2T>C (n.863+2T>C) c.860+2T>C (n.860+2T>C) c.812+2T>C (n.812+2T>C) | |
| 7 | g.44147648A>T | CA367400394 | GCK | c.*861+2T>A (n.*861+2T>A) c.853+12T>A (n.853+12T>A) c.866+2T>A (n.866+2T>A) c.863+2T>A (n.863+2T>A) c.860+2T>A (n.860+2T>A) c.812+2T>A (n.812+2T>A) | |
| 7 | g.44147649C>A | CA367400395 | GCK | c.*861+1G>T (n.*861+1G>T) c.853+11G>T (n.853+11G>T) c.866+1G>T (n.866+1G>T) c.863+1G>T (n.863+1G>T) c.860+1G>T (n.860+1G>T) c.812+1G>T (n.812+1G>T) | |
| 7 | g.44147649C= | CA1703634868 | GCK | c.*861+1G= (n.*861+1G=) c.853+11G= (n.853+11G=) c.866+1G= (n.866+1G=) c.863+1G= (n.863+1G=) c.860+1G= (n.860+1G=) c.812+1G= (n.812+1G=) | |
| 7 | g.44147649C>G | CA367400396 | GCK | c.*861+1G>C (n.*861+1G>C) c.853+11G>C (n.853+11G>C) c.866+1G>C (n.866+1G>C) c.863+1G>C (n.863+1G>C) c.860+1G>C (n.860+1G>C) c.812+1G>C (n.812+1G>C) | |
| 7 | g.44147649C>T | CA367400397 | GCK | c.*861+1G>A (n.*861+1G>A) c.853+11G>A (n.853+11G>A) c.866+1G>A (n.866+1G>A) c.863+1G>A (n.863+1G>A) c.860+1G>A (n.860+1G>A) c.812+1G>A (n.812+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147650A= | CA1703634869 | GCK | c.*861T= (n.*861T=) c.853+10T= (n.853+10T=) c.866T= (p.Leu289=) c.863T= (p.Leu288=) c.860T= (p.Leu287=) c.812T= (p.Leu271=) | |
| 7 | g.44147650A>C | CA4239511 | GCK | c.*861T>G (n.*861T>G) c.853+10T>G (n.853+10T>G) c.866T>G (p.Leu289Arg) c.863T>G (p.Leu288Arg) c.860T>G (p.Leu287Arg) c.812T>G (p.Leu271Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147650A>G | CA367400398 | GCK | c.*861T>C (n.*861T>C) c.853+10T>C (n.853+10T>C) c.866T>C (p.Leu289Pro) c.863T>C (p.Leu288Pro) c.860T>C (p.Leu287Pro) c.812T>C (p.Leu271Pro) | |
| 7 | g.44147650A>T | CA367400399 | GCK | c.*861T>A (n.*861T>A) c.853+10T>A (n.853+10T>A) c.866T>A (p.Leu289Gln) c.863T>A (p.Leu288Gln) c.860T>A (p.Leu287Gln) c.812T>A (p.Leu271Gln) | |
| 7 | g.44147651G>A | CA454608497 | GCK | c.*860C>T (n.*860C>T) c.853+9C>T (n.853+9C>T) c.865C>T (p.Leu289=) c.862C>T (p.Leu288=) c.859C>T (p.Leu287=) c.811C>T (p.Leu271=) | |
| 7 | g.44147651G>C | CA367400400 | GCK | c.*860C>G (n.*860C>G) c.853+9C>G (n.853+9C>G) c.865C>G (p.Leu289Val) c.862C>G (p.Leu288Val) c.859C>G (p.Leu287Val) c.811C>G (p.Leu271Val) | |
| 7 | g.44147651G>T | CA367400401 | GCK | c.*860C>A (n.*860C>A) c.853+9C>A (n.853+9C>A) c.865C>A (p.Leu289Met) c.862C>A (p.Leu288Met) c.859C>A (p.Leu287Met) c.811C>A (p.Leu271Met) | |
| 7 | g.44147652C>A | CA367400402 | GCK | c.*859G>T (n.*859G>T) c.853+8G>T (n.853+8G>T) c.864G>T (p.Gln288His) c.861G>T (p.Gln287His) c.858G>T (p.Gln286His) c.810G>T (p.Gln270His) | |
| 7 | g.44147652C>G | CA367400403 | GCK | c.*859G>C (n.*859G>C) c.853+8G>C (n.853+8G>C) c.864G>C (p.Gln288His) c.861G>C (p.Gln287His) c.858G>C (p.Gln286His) c.810G>C (p.Gln270His) | |
| 7 | g.44147652C>T | CA454608499 | GCK | c.*859G>A (n.*859G>A) c.853+8G>A (n.853+8G>A) c.864G>A (p.Gln288=) c.861G>A (p.Gln287=) c.858G>A (p.Gln286=) c.810G>A (p.Gln270=) | |
| 7 | g.44147653T>A | CA367400404 | GCK | c.*858A>T (n.*858A>T) c.853+7A>T (n.853+7A>T) c.863A>T (p.Gln288Leu) c.860A>T (p.Gln287Leu) c.857A>T (p.Gln286Leu) c.809A>T (p.Gln270Leu) | COSMIC COSMIC COSMIC |
| 7 | g.44147653T>C | CA367400406 | GCK | c.*858A>G (n.*858A>G) c.853+7A>G (n.853+7A>G) c.863A>G (p.Gln288Arg) c.860A>G (p.Gln287Arg) c.857A>G (p.Gln286Arg) c.809A>G (p.Gln270Arg) | gnomAD v4 |
| 7 | g.44147653T>G | CA367400405 | GCK | c.*858A>C (n.*858A>C) c.853+7A>C (n.853+7A>C) c.863A>C (p.Gln288Pro) c.860A>C (p.Gln287Pro) c.857A>C (p.Gln286Pro) c.809A>C (p.Gln270Pro) | |
| 7 | g.44147654G>A | CA367400407 | GCK | c.*857C>T (n.*857C>T) c.853+6C>T (n.853+6C>T) c.862C>T (p.Gln288Ter) c.859C>T (p.Gln287Ter) c.856C>T (p.Gln286Ter) c.808C>T (p.Gln270Ter) | |
| 7 | g.44147654G>C | CA367400409 | GCK | c.*857C>G (n.*857C>G) c.853+6C>G (n.853+6C>G) c.862C>G (p.Gln288Glu) c.859C>G (p.Gln287Glu) c.856C>G (p.Gln286Glu) c.808C>G (p.Gln270Glu) | ClinVar |
| 7 | g.44147654G>T | CA367400408 | GCK | c.*857C>A (n.*857C>A) c.853+6C>A (n.853+6C>A) c.862C>A (p.Gln288Lys) c.859C>A (p.Gln287Lys) c.856C>A (p.Gln286Lys) c.808C>A (p.Gln270Lys) | |
| 7 | g.44147655C>A | CA367400410 | GCK | c.*856G>T (n.*856G>T) c.853+5G>T (n.853+5G>T) c.861G>T (p.Gln287His) c.858G>T (p.Gln286His) c.855G>T (p.Gln285His) c.807G>T (p.Gln269His) | |
| 7 | g.44147655C>G | CA367400411 | GCK | c.*856G>C (n.*856G>C) c.853+5G>C (n.853+5G>C) c.861G>C (p.Gln287His) c.858G>C (p.Gln286His) c.855G>C (p.Gln285His) c.807G>C (p.Gln269His) | |
| 7 | g.44147655C>T | CA454608510 | GCK | c.*856G>A (n.*856G>A) c.853+5G>A (n.853+5G>A) c.861G>A (p.Gln287=) c.858G>A (p.Gln286=) c.855G>A (p.Gln285=) c.807G>A (p.Gln269=) | |
| 7 | g.44147656T>A | CA367400412 | GCK | c.*855A>T (n.*855A>T) c.853+4A>T (n.853+4A>T) c.860A>T (p.Gln287Leu) c.857A>T (p.Gln286Leu) c.854A>T (p.Gln285Leu) c.806A>T (p.Gln269Leu) | |
| 7 | g.44147656T>C | CA367400413 | GCK | c.*855A>G (n.*855A>G) c.853+4A>G (n.853+4A>G) c.860A>G (p.Gln287Arg) c.857A>G (p.Gln286Arg) c.854A>G (p.Gln285Arg) c.806A>G (p.Gln269Arg) | |
| 7 | g.44147656T>G | CA367400414 | GCK | c.*855A>C (n.*855A>C) c.853+4A>C (n.853+4A>C) c.860A>C (p.Gln287Pro) c.857A>C (p.Gln286Pro) c.854A>C (p.Gln285Pro) c.806A>C (p.Gln269Pro) | |
| 7 | g.44147657G>A | CA367400415 | GCK | c.*854C>T (n.*854C>T) c.853+3C>T (n.853+3C>T) c.859C>T (p.Gln287Ter) c.856C>T (p.Gln286Ter) c.853C>T (p.Gln285Ter) c.805C>T (p.Gln269Ter) | ClinVar |
| 7 | g.44147657G>C | CA367400416 | GCK | c.*854C>G (n.*854C>G) c.853+3C>G (n.853+3C>G) c.859C>G (p.Gln287Glu) c.856C>G (p.Gln286Glu) c.853C>G (p.Gln285Glu) c.805C>G (p.Gln269Glu) | |
| 7 | g.44147657G>T | CA367400417 | GCK | c.*854C>A (n.*854C>A) c.853+3C>A (n.853+3C>A) c.859C>A (p.Gln287Lys) c.856C>A (p.Gln286Lys) c.853C>A (p.Gln285Lys) c.805C>A (p.Gln269Lys) | |
| 7 | g.44147658A>C | CA454608516 | GCK | c.*853T>G (n.*853T>G) c.853+2T>G (n.853+2T>G) c.858T>G (p.Gly286=) c.855T>G (p.Gly285=) c.852T>G (p.Gly284=) c.804T>G (p.Gly268=) | |
| 7 | g.44147658A>G | CA454608518 | GCK | c.*853T>C (n.*853T>C) c.853+2T>C (n.853+2T>C) c.858T>C (p.Gly286=) c.855T>C (p.Gly285=) c.852T>C (p.Gly284=) c.804T>C (p.Gly268=) | |
| 7 | g.44147658A>T | CA454608519 | GCK | c.*853T>A (n.*853T>A) c.853+2T>A (n.853+2T>A) c.858T>A (p.Gly286=) c.855T>A (p.Gly285=) c.852T>A (p.Gly284=) c.804T>A (p.Gly268=) | |
| 7 | g.44147658_44147659delinsAC | CA1703634870 | GCK | c.*852_*853delinsGT (n.*852_*853delinsGT) c.853+1_853+2delinsGT (n.853+1_853+2delinsGT) c.857_858delinsGT (p.Gly286=) c.854_855delinsGT (p.Gly285=) c.851_852delinsGT (p.Gly284=) c.803_804delinsGT (p.Gly268=) | |
| 7 | g.44147659C>A | CA367400418 | GCK | c.*852G>T (n.*852G>T) c.853+1G>T (n.853+1G>T) c.857G>T (p.Gly286Val) c.854G>T (p.Gly285Val) c.851G>T (p.Gly284Val) c.803G>T (p.Gly268Val) | ClinVar |
| 7 | g.44147659C>G | CA367400419 | GCK | c.*852G>C (n.*852G>C) c.853+1G>C (n.853+1G>C) c.857G>C (p.Gly286Ala) c.854G>C (p.Gly285Ala) c.851G>C (p.Gly284Ala) c.803G>C (p.Gly268Ala) | |
| 7 | g.44147659C>T | CA367400420 | GCK | c.*852G>A (n.*852G>A) c.853+1G>A (n.853+1G>A) c.857G>A (p.Gly286Asp) c.854G>A (p.Gly285Asp) c.851G>A (p.Gly284Asp) c.803G>A (p.Gly268Asp) | |
| 7 | g.44147660del | CA915944917 | GCK | c.*852del (n.*852del) c.853+1del c.857del (p.Gly286ValfsTer9) c.854del (p.Gly285ValfsTer9) c.851del (p.Gly284ValfsTer9) c.803del (p.Gly268ValfsTer9) | ClinVar dbSNP |
| 7 | g.44147660C>A | CA367400422 | GCK | c.*851G>T (n.*851G>T) c.853G>T (p.Gly285Cys) c.856G>T (p.Gly286Cys) c.850G>T (p.Gly284Cys) c.802G>T (p.Gly268Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147660C= | CA1703634871 | GCK | c.*851G= (n.*851G=) c.853G= (p.Gly285=) c.856G= (p.Gly286=) c.850G= (p.Gly284=) c.802G= (p.Gly268=) | |
| 7 | g.44147660C>G | CA4239512 | GCK | c.*851G>C (n.*851G>C) c.853G>C (p.Gly285Arg) c.856G>C (p.Gly286Arg) c.850G>C (p.Gly284Arg) c.802G>C (p.Gly268Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147660C>T | CA367400421 | GCK | c.*851G>A (n.*851G>A) c.853G>A (p.Gly285Ser) c.856G>A (p.Gly286Ser) c.850G>A (p.Gly284Ser) c.802G>A (p.Gly268Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147661G>A | CA4239513 | GCK | c.*850C>T (n.*850C>T) c.852C>T (p.Pro284=) c.855C>T (p.Pro285=) c.849C>T (p.Pro283=) c.801C>T (p.Pro267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147661G>C | CA454608521 | GCK | c.*850C>G (n.*850C>G) c.852C>G (p.Pro284=) c.855C>G (p.Pro285=) c.849C>G (p.Pro283=) c.801C>G (p.Pro267=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147661G= | CA1703634872 | GCK | c.*850C= (n.*850C=) c.852C= (p.Pro284=) c.855C= (p.Pro285=) c.849C= (p.Pro283=) c.801C= (p.Pro267=) | |
| 7 | g.44147661G>T | CA454608523 | GCK | c.*850C>A (n.*850C>A) c.852C>A (p.Pro284=) c.855C>A (p.Pro285=) c.849C>A (p.Pro283=) c.801C>A (p.Pro267=) | |
| 7 | g.44147664dup | CA2739265440 | GCK | c.*850dup (n.*850dup) c.852dup (p.Gly285ArgfsTer?) c.855dup (p.Gly286ArgfsTer6) c.852dup (p.Gly285ArgfsTer6) c.852dup (p.Gly285ArgfsTer2) c.849dup (p.Gly284ArgfsTer6) c.801dup (p.Gly268ArgfsTer6) | ClinVar |
| 7 | g.44147664del | CA2695203082 | GCK | c.*850del (n.*850del) c.852del (p.Gly285ValfsTer2) c.855del (p.Gly286ValfsTer9) c.852del (p.Gly285ValfsTer9) c.852del (p.Gly285ValfsTer19) c.849del (p.Gly284ValfsTer9) c.801del (p.Gly268ValfsTer9) | |
| 7 | g.44147662G>A | CA367400423 | GCK | c.*849C>T (n.*849C>T) c.851C>T (p.Pro284Leu) c.854C>T (p.Pro285Leu) c.848C>T (p.Pro283Leu) c.800C>T (p.Pro267Leu) | ClinVar dbSNP |
| 7 | g.44147662G>C | CA367400424 | GCK | c.*849C>G (n.*849C>G) c.851C>G (p.Pro284Arg) c.854C>G (p.Pro285Arg) c.848C>G (p.Pro283Arg) c.800C>G (p.Pro267Arg) | |
| 7 | g.44147662G= | CA1703634873 | GCK | c.*849C= (n.*849C=) c.851C= (p.Pro284=) c.854C= (p.Pro285=) c.848C= (p.Pro283=) c.800C= (p.Pro267=) | |
| 7 | g.44147662G>T | CA367400425 | GCK | c.*849C>A (n.*849C>A) c.851C>A (p.Pro284His) c.854C>A (p.Pro285His) c.848C>A (p.Pro283His) c.800C>A (p.Pro267His) | |
| 7 | g.44147663G>A | CA367400426 | GCK | c.*848C>T (n.*848C>T) c.850C>T (p.Pro284Ser) c.853C>T (p.Pro285Ser) c.847C>T (p.Pro283Ser) c.799C>T (p.Pro267Ser) | |
| 7 | g.44147663G>C | CA367400427 | GCK | c.*848C>G (n.*848C>G) c.850C>G (p.Pro284Ala) c.853C>G (p.Pro285Ala) c.847C>G (p.Pro283Ala) c.799C>G (p.Pro267Ala) | |
| 7 | g.44147663G>T | CA367400428 | GCK | c.*848C>A (n.*848C>A) c.850C>A (p.Pro284Thr) c.853C>A (p.Pro285Thr) c.847C>A (p.Pro283Thr) c.799C>A (p.Pro267Thr) | |
| 7 | g.44147666_44147692del | CA2695203083 | GCK | c.*822_*848del (n.*822_*848del) c.824_850del (p.Arg275_Asn283del) c.827_853del (p.Arg276_Asn284del) c.821_847del (p.Arg274_Asn282del) c.773_799del (p.Arg258_Asn266del) | |
| 7 | g.44147664G>A | CA157915565 | GCK | c.*847C>T (n.*847C>T) c.849C>T (p.Asn283=) c.852C>T (p.Asn284=) c.846C>T (p.Asn282=) c.798C>T (p.Asn266=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147664G>C | CA367400429 | GCK | c.*847C>G (n.*847C>G) c.849C>G (p.Asn283Lys) c.852C>G (p.Asn284Lys) c.846C>G (p.Asn282Lys) c.798C>G (p.Asn266Lys) | |
| 7 | g.44147664G= | CA1703634874 | GCK | c.*847C= (n.*847C=) c.849C= (p.Asn283=) c.852C= (p.Asn284=) c.846C= (p.Asn282=) c.798C= (p.Asn266=) | |
| 7 | g.44147664G>T | CA367400430 | GCK | c.*847C>A (n.*847C>A) c.849C>A (p.Asn283Lys) c.852C>A (p.Asn284Lys) c.846C>A (p.Asn282Lys) c.798C>A (p.Asn266Lys) | |
| 7 | g.44147664_44147665delinsGT | CA1703634875 | GCK | c.*846_*847delinsAC (n.*846_*847delinsAC) c.848_849delinsAC (p.Asn283=) c.851_852delinsAC (p.Asn284=) c.845_846delinsAC (p.Asn282=) c.797_798delinsAC (p.Asn266=) | |
| 7 | g.44147665T>A | CA367400432 | GCK | c.*846A>T (n.*846A>T) c.848A>T (p.Asn283Ile) c.851A>T (p.Asn284Ile) c.845A>T (p.Asn282Ile) c.797A>T (p.Asn266Ile) | |
| 7 | g.44147665T>C | CA367400433 | GCK | c.*846A>G (n.*846A>G) c.848A>G (p.Asn283Ser) c.851A>G (p.Asn284Ser) c.845A>G (p.Asn282Ser) c.797A>G (p.Asn266Ser) | |
| 7 | g.44147665T>G | CA367400431 | GCK | c.*846A>C (n.*846A>C) c.848A>C (p.Asn283Thr) c.851A>C (p.Asn284Thr) c.845A>C (p.Asn282Thr) c.797A>C (p.Asn266Thr) | dbSNP |
| 7 | g.44147665T= | CA1703634876 | GCK | c.*846A= (n.*846A=) c.848A= (p.Asn283=) c.851A= (p.Asn284=) c.845A= (p.Asn282=) c.797A= (p.Asn266=) | |
| 7 | g.44147667del | CA915944918 | GCK | c.*846del (n.*846del) c.848del (p.Asn283ThrfsTer4) c.851del (p.Asn284ThrfsTer11) c.848del (p.Asn283ThrfsTer11) c.848del (p.Asn283ThrfsTer21) c.845del (p.Asn282ThrfsTer11) c.797del (p.Asn266ThrfsTer11) | ClinVar dbSNP |
| 7 | g.44147666T>A | CA367400434 | GCK | c.*845A>T (n.*845A>T) c.847A>T (p.Asn283Tyr) c.850A>T (p.Asn284Tyr) c.844A>T (p.Asn282Tyr) c.796A>T (p.Asn266Tyr) | |
| 7 | g.44147666T>C | CA367400435 | GCK | c.*845A>G (n.*845A>G) c.847A>G (p.Asn283Asp) c.850A>G (p.Asn284Asp) c.844A>G (p.Asn282Asp) c.796A>G (p.Asn266Asp) | |
| 7 | g.44147666T>G | CA367400436 | GCK | c.*845A>C (n.*845A>C) c.847A>C (p.Asn283His) c.850A>C (p.Asn284His) c.844A>C (p.Asn282His) c.796A>C (p.Asn266His) | |
| 7 | g.44147667T>A | CA454608535 | GCK | c.*844A>T (n.*844A>T) c.846A>T (p.Ala282=) c.849A>T (p.Ala283=) c.843A>T (p.Ala281=) c.795A>T (p.Ala265=) n.1T>A | |
| 7 | g.44147667T>C | CA454608538 | GCK | c.*844A>G (n.*844A>G) c.846A>G (p.Ala282=) c.849A>G (p.Ala283=) c.843A>G (p.Ala281=) c.795A>G (p.Ala265=) n.1T>C | gnomAD v4 |
| 7 | g.44147667T>G | CA454608539 | GCK | c.*844A>C (n.*844A>C) c.846A>C (p.Ala282=) c.849A>C (p.Ala283=) c.843A>C (p.Ala281=) c.795A>C (p.Ala265=) n.1T>G | |
| 7 | g.44147668G>A | CA4239514 | GCK | c.*843C>T (n.*843C>T) c.845C>T (p.Ala282Val) c.848C>T (p.Ala283Val) c.842C>T (p.Ala281Val) c.794C>T (p.Ala265Val) n.2G>A | dbSNP ExAC gnomAD v4 |
| 7 | g.44147668G>C | CA367400437 | GCK | c.*843C>G (n.*843C>G) c.845C>G (p.Ala282Gly) c.848C>G (p.Ala283Gly) c.842C>G (p.Ala281Gly) c.794C>G (p.Ala265Gly) n.2G>C | |
| 7 | g.44147668G= | CA1703634877 | GCK | c.*843C= (n.*843C=) c.845C= (p.Ala282=) c.848C= (p.Ala283=) c.842C= (p.Ala281=) c.794C= (p.Ala265=) n.2G= | |
| 7 | g.44147668G>T | CA367400438 | GCK | c.*843C>A (n.*843C>A) c.845C>A (p.Ala282Glu) c.848C>A (p.Ala283Glu) c.842C>A (p.Ala281Glu) c.794C>A (p.Ala265Glu) n.2G>T | |
| 7 | g.44147669C>A | CA367400439 | GCK | c.*842G>T (n.*842G>T) c.844G>T (p.Ala282Ser) c.847G>T (p.Ala283Ser) c.841G>T (p.Ala281Ser) c.793G>T (p.Ala265Ser) n.3C>A | |
| 7 | g.44147669C>G | CA367400440 | GCK | c.*842G>C (n.*842G>C) c.844G>C (p.Ala282Pro) c.847G>C (p.Ala283Pro) c.841G>C (p.Ala281Pro) c.793G>C (p.Ala265Pro) n.3C>G | |
| 7 | g.44147669C>T | CA367400441 | GCK | c.*842G>A (n.*842G>A) c.844G>A (p.Ala282Thr) c.847G>A (p.Ala283Thr) c.841G>A (p.Ala281Thr) c.793G>A (p.Ala265Thr) n.3C>T | gnomAD v4 |
| 7 | g.44147670A>C | CA454608548 | GCK | c.*841T>G (n.*841T>G) c.843T>G (p.Ser281=) c.846T>G (p.Ser282=) c.840T>G (p.Ser280=) c.792T>G (p.Ser264=) n.4A>C | |
| 7 | g.44147670A>G | CA454608544 | GCK | c.*841T>C (n.*841T>C) c.843T>C (p.Ser281=) c.846T>C (p.Ser282=) c.840T>C (p.Ser280=) c.792T>C (p.Ser264=) n.4A>G | |
| 7 | g.44147670A>T | CA454608543 | GCK | c.*841T>A (n.*841T>A) c.843T>A (p.Ser281=) c.846T>A (p.Ser282=) c.840T>A (p.Ser280=) c.792T>A (p.Ser264=) n.4A>T | |
| 7 | g.44147671G>A | CA367400442 | GCK | c.*840C>T (n.*840C>T) c.842C>T (p.Ser281Phe) c.845C>T (p.Ser282Phe) c.839C>T (p.Ser280Phe) c.791C>T (p.Ser264Phe) n.5G>A | |
| 7 | g.44147671G>C | CA367400443 | GCK | c.*840C>G (n.*840C>G) c.842C>G (p.Ser281Cys) c.845C>G (p.Ser282Cys) c.839C>G (p.Ser280Cys) c.791C>G (p.Ser264Cys) n.5G>C | |
| 7 | g.44147671G>T | CA367400444 | GCK | c.*840C>A (n.*840C>A) c.842C>A (p.Ser281Tyr) c.845C>A (p.Ser282Tyr) c.839C>A (p.Ser280Tyr) c.791C>A (p.Ser264Tyr) n.5G>T | |
| 7 | g.44147672A>C | CA367400446 | GCK | c.*839T>G (n.*839T>G) c.841T>G (p.Ser281Ala) c.844T>G (p.Ser282Ala) c.838T>G (p.Ser280Ala) c.790T>G (p.Ser264Ala) n.6A>C | |
| 7 | g.44147672A>G | CA367400447 | GCK | c.*839T>C (n.*839T>C) c.841T>C (p.Ser281Pro) c.844T>C (p.Ser282Pro) c.838T>C (p.Ser280Pro) c.790T>C (p.Ser264Pro) n.6A>G | |
| 7 | g.44147672A>T | CA367400445 | GCK | c.*839T>A (n.*839T>A) c.841T>A (p.Ser281Thr) c.844T>A (p.Ser282Thr) c.838T>A (p.Ser280Thr) c.790T>A (p.Ser264Thr) n.6A>T | |
| 7 | g.44147673G>A | CA4239515 | GCK | c.*838C>T (n.*838C>T) c.840C>T (p.Ser280=) c.843C>T (p.Ser281=) c.837C>T (p.Ser279=) c.789C>T (p.Ser263=) n.7G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147673G>C | CA367400448 | GCK | c.*838C>G (n.*838C>G) c.840C>G (p.Ser280Arg) c.843C>G (p.Ser281Arg) c.837C>G (p.Ser279Arg) c.789C>G (p.Ser263Arg) n.7G>C | |
| 7 | g.44147673G= | CA1703634878 | GCK | c.*838C= (n.*838C=) c.840C= (p.Ser280=) c.843C= (p.Ser281=) c.837C= (p.Ser279=) c.789C= (p.Ser263=) n.7G= | |
| 7 | g.44147673G>T | CA367400449 | GCK | c.*838C>A (n.*838C>A) c.840C>A (p.Ser280Arg) c.843C>A (p.Ser281Arg) c.837C>A (p.Ser279Arg) c.789C>A (p.Ser263Arg) n.7G>T | |
| 7 | g.44147674C>A | CA367400450 | GCK | c.*837G>T (n.*837G>T) c.839G>T (p.Ser280Ile) c.842G>T (p.Ser281Ile) c.836G>T (p.Ser279Ile) c.788G>T (p.Ser263Ile) n.8C>A | |
| 7 | g.44147674C>G | CA367400451 | GCK | c.*837G>C (n.*837G>C) c.839G>C (p.Ser280Thr) c.842G>C (p.Ser281Thr) c.836G>C (p.Ser279Thr) c.788G>C (p.Ser263Thr) n.8C>G | |
| 7 | g.44147674C>T | CA367400452 | GCK | c.*837G>A (n.*837G>A) c.839G>A (p.Ser280Asn) c.842G>A (p.Ser281Asn) c.836G>A (p.Ser279Asn) c.788G>A (p.Ser263Asn) n.8C>T | gnomAD v4 |
| 7 | g.44147677_44147678del | CA2695203084 | GCK | c.*836_*837del (n.*836_*837del) c.838_839del (p.Ser280LeufsTer?) c.841_842del (p.Ser281LeufsTer10) c.838_839del (p.Ser280LeufsTer10) c.838_839del (p.Ser280LeufsTer6) c.835_836del (p.Ser279LeufsTer10) c.787_788del (p.Ser263LeufsTer10) n.11_12del | |
| 7 | g.44147675T>A | CA367400453 | GCK | c.*836A>T (n.*836A>T) c.838A>T (p.Ser280Cys) c.841A>T (p.Ser281Cys) c.835A>T (p.Ser279Cys) c.787A>T (p.Ser263Cys) n.9T>A | |
| 7 | g.44147675T>C | CA367400455 | GCK | c.*836A>G (n.*836A>G) c.838A>G (p.Ser280Gly) c.841A>G (p.Ser281Gly) c.835A>G (p.Ser279Gly) c.787A>G (p.Ser263Gly) n.9T>C | |
| 7 | g.44147675T>G | CA367400454 | GCK | c.*836A>C (n.*836A>C) c.838A>C (p.Ser280Arg) c.841A>C (p.Ser281Arg) c.835A>C (p.Ser279Arg) c.787A>C (p.Ser263Arg) n.9T>G | |
| 7 | g.44147676C>A | CA367400456 | GCK | c.*835G>T (n.*835G>T) c.837G>T (p.Glu279Asp) c.840G>T (p.Glu280Asp) c.834G>T (p.Glu278Asp) c.786G>T (p.Glu262Asp) n.10C>A | |
| 7 | g.44147676C= | CA1703634879 | GCK | c.*835G= (n.*835G=) c.837G= (p.Glu279=) c.840G= (p.Glu280=) c.834G= (p.Glu278=) c.786G= (p.Glu262=) n.10C= | |
| 7 | g.44147676C>G | CA367400457 | GCK | c.*835G>C (n.*835G>C) c.837G>C (p.Glu279Asp) c.840G>C (p.Glu280Asp) c.834G>C (p.Glu278Asp) c.786G>C (p.Glu262Asp) n.10C>G | gnomAD v4 |
| 7 | g.44147676C>T | CA454608561 | GCK | c.*835G>A (n.*835G>A) c.837G>A (p.Glu279=) c.840G>A (p.Glu280=) c.834G>A (p.Glu278=) c.786G>A (p.Glu262=) n.10C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147677T>A | CA367400458 | GCK | c.*834A>T (n.*834A>T) c.836A>T (p.Glu279Val) c.839A>T (p.Glu280Val) c.833A>T (p.Glu278Val) c.785A>T (p.Glu262Val) n.11T>A | gnomAD v4 |
| 7 | g.44147677T>C | CA4239516 | GCK | c.*834A>G (n.*834A>G) c.836A>G (p.Glu279Gly) c.839A>G (p.Glu280Gly) c.833A>G (p.Glu278Gly) c.785A>G (p.Glu262Gly) n.11T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147677T>G | CA367400459 | GCK | c.*834A>C (n.*834A>C) c.836A>C (p.Glu279Ala) c.839A>C (p.Glu280Ala) c.833A>C (p.Glu278Ala) c.785A>C (p.Glu262Ala) n.11T>G | gnomAD v4 |
| 7 | g.44147677T= | CA1703634880 | GCK | c.*834A= (n.*834A=) c.836A= (p.Glu279=) c.839A= (p.Glu280=) c.833A= (p.Glu278=) c.785A= (p.Glu262=) n.11T= | |
| 7 | g.44147678C>A | CA126207 | GCK | c.*833G>T (n.*833G>T) c.835G>T (p.Glu279Ter) c.838G>T (p.Glu280Ter) c.832G>T (p.Glu278Ter) c.784G>T (p.Glu262Ter) n.12C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147678C= | CA1703634881 | GCK | c.*833G= (n.*833G=) c.835G= (p.Glu279=) c.838G= (p.Glu280=) c.832G= (p.Glu278=) c.784G= (p.Glu262=) n.12C= | |
| 7 | g.44147678C>G | CA208420 | GCK | c.*833G>C (n.*833G>C) c.835G>C (p.Glu279Gln) c.838G>C (p.Glu280Gln) c.832G>C (p.Glu278Gln) c.784G>C (p.Glu262Gln) n.12C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147678C>T | CA157915593 | GCK | c.*833G>A (n.*833G>A) c.835G>A (p.Glu279Lys) c.838G>A (p.Glu280Lys) c.832G>A (p.Glu278Lys) c.784G>A (p.Glu262Lys) n.12C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147679G>A | CA4239517 | GCK | c.*832C>T (n.*832C>T) c.834C>T (p.Asp278=) c.837C>T (p.Asp279=) c.831C>T (p.Asp277=) c.783C>T (p.Asp261=) n.13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147679G>C | CA367400460 | GCK | c.*832C>G (n.*832C>G) c.834C>G (p.Asp278Glu) c.837C>G (p.Asp279Glu) c.831C>G (p.Asp277Glu) c.783C>G (p.Asp261Glu) n.13G>C | ClinVar |
| 7 | g.44147679G= | CA1703634882 | GCK | c.*832C= (n.*832C=) c.834C= (p.Asp278=) c.837C= (p.Asp279=) c.831C= (p.Asp277=) c.783C= (p.Asp261=) n.13G= | |
| 7 | g.44147679G>T | CA367400461 | GCK | c.*832C>A (n.*832C>A) c.834C>A (p.Asp278Glu) c.837C>A (p.Asp279Glu) c.831C>A (p.Asp277Glu) c.783C>A (p.Asp261Glu) n.13G>T | ClinVar gnomAD v4 |
| 7 | g.44147680T>A | CA213856 | GCK | c.*831A>T (n.*831A>T) c.833A>T (p.Asp278Val) c.836A>T (p.Asp279Val) c.830A>T (p.Asp277Val) c.782A>T (p.Asp261Val) n.14T>A | ClinVar dbSNP |
| 7 | g.44147680T>C | CA367400462 | GCK | c.*831A>G (n.*831A>G) c.833A>G (p.Asp278Gly) c.836A>G (p.Asp279Gly) c.830A>G (p.Asp277Gly) c.782A>G (p.Asp261Gly) n.14T>C | gnomAD v4 |
| 7 | g.44147680T>G | CA367400463 | GCK | c.*831A>C (n.*831A>C) c.833A>C (p.Asp278Ala) c.836A>C (p.Asp279Ala) c.830A>C (p.Asp277Ala) c.782A>C (p.Asp261Ala) n.14T>G | |
| 7 | g.44147680T= | CA1703634883 | GCK | c.*831A= (n.*831A=) c.833A= (p.Asp278=) c.836A= (p.Asp279=) c.830A= (p.Asp277=) c.782A= (p.Asp261=) n.14T= | |
| 7 | g.44147681C>A | CA367400464 | GCK | c.*830G>T (n.*830G>T) c.832G>T (p.Asp278Tyr) c.835G>T (p.Asp279Tyr) c.829G>T (p.Asp277Tyr) c.781G>T (p.Asp261Tyr) n.15C>A | |
| 7 | g.44147681C>G | CA367400465 | GCK | c.*830G>C (n.*830G>C) c.832G>C (p.Asp278His) c.835G>C (p.Asp279His) c.829G>C (p.Asp277His) c.781G>C (p.Asp261His) n.15C>G | |
| 7 | g.44147681C>T | CA367400466 | GCK | c.*830G>A (n.*830G>A) c.832G>A (p.Asp278Asn) c.835G>A (p.Asp279Asn) c.829G>A (p.Asp277Asn) c.781G>A (p.Asp261Asn) n.15C>T | |
| 7 | g.44147682del | CA2695203085 | GCK | c.*830del (n.*830del) c.832del (p.Asp278ThrfsTer9) c.835del (p.Asp279ThrfsTer16) c.832del (p.Asp278ThrfsTer16) c.832del (p.Asp278ThrfsTer26) c.829del (p.Asp277ThrfsTer16) c.781del (p.Asp261ThrfsTer16) n.16del | |
| 7 | g.44147682C>A | CA454608568 | GCK | c.*829G>T (n.*829G>T) c.831G>T (p.Val277=) c.834G>T (p.Val278=) c.828G>T (p.Val276=) c.780G>T (p.Val260=) n.16C>A | |
| 7 | g.44147682C>G | CA454608569 | GCK | c.*829G>C (n.*829G>C) c.831G>C (p.Val277=) c.834G>C (p.Val278=) c.828G>C (p.Val276=) c.780G>C (p.Val260=) n.16C>G | |
| 7 | g.44147682C>T | CA454608574 | GCK | c.*829G>A (n.*829G>A) c.831G>A (p.Val277=) c.834G>A (p.Val278=) c.828G>A (p.Val276=) c.780G>A (p.Val260=) n.16C>T | gnomAD v4 |
| 7 | g.44147683A= | CA1703634884 | GCK | c.*828T= (n.*828T=) c.830T= (p.Val277=) c.833T= (p.Val278=) c.827T= (p.Val276=) c.779T= (p.Val260=) n.17A= | |
| 7 | g.44147683A>C | CA367400467 | GCK | c.*828T>G (n.*828T>G) c.830T>G (p.Val277Gly) c.833T>G (p.Val278Gly) c.827T>G (p.Val276Gly) c.779T>G (p.Val260Gly) n.17A>C | ClinVar dbSNP |
| 7 | g.44147683A>G | CA367400468 | GCK | c.*828T>C (n.*828T>C) c.830T>C (p.Val277Ala) c.833T>C (p.Val278Ala) c.827T>C (p.Val276Ala) c.779T>C (p.Val260Ala) n.17A>G | gnomAD v4 |
| 7 | g.44147683A>T | CA367400469 | GCK | c.*828T>A (n.*828T>A) c.830T>A (p.Val277Glu) c.833T>A (p.Val278Glu) c.827T>A (p.Val276Glu) c.779T>A (p.Val260Glu) n.17A>T | ClinVar |
| 7 | g.44147683_44147684delinsCT | CA2695203086 | GCK | c.*827_*828delinsAG (n.*827_*828delinsAG) c.829_830delinsAG (p.Val277Arg) c.832_833delinsAG (p.Val278Arg) c.826_827delinsAG (p.Val276Arg) c.778_779delinsAG (p.Val260Arg) n.17_18delinsCT | |
| 7 | g.44147684C>A | CA367400470 | GCK | c.*827G>T (n.*827G>T) c.829G>T (p.Val277Leu) c.832G>T (p.Val278Leu) c.826G>T (p.Val276Leu) c.778G>T (p.Val260Leu) n.18C>A | gnomAD v4 |
| 7 | g.44147684C>G | CA367400471 | GCK | c.*827G>C (n.*827G>C) c.829G>C (p.Val277Leu) c.832G>C (p.Val278Leu) c.826G>C (p.Val276Leu) c.778G>C (p.Val260Leu) n.18C>G | |
| 7 | g.44147684C>T | CA367400472 | GCK | c.*827G>A (n.*827G>A) c.829G>A (p.Val277Met) c.832G>A (p.Val278Met) c.826G>A (p.Val276Met) c.778G>A (p.Val260Met) n.18C>T | gnomAD v4 |
| 7 | g.44147685C>A | CA454608581 | GCK | c.*826G>T (n.*826G>T) c.828G>T (p.Leu276=) c.831G>T (p.Leu277=) c.825G>T (p.Leu275=) c.777G>T (p.Leu259=) n.19C>A | |
| 7 | g.44147685C= | CA1703634885 | GCK | c.*826G= (n.*826G=) c.828G= (p.Leu276=) c.831G= (p.Leu277=) c.825G= (p.Leu275=) c.777G= (p.Leu259=) n.19C= | |
| 7 | g.44147685C>G | CA454608582 | GCK | c.*826G>C (n.*826G>C) c.828G>C (p.Leu276=) c.831G>C (p.Leu277=) c.825G>C (p.Leu275=) c.777G>C (p.Leu259=) n.19C>G | dbSNP |
| 7 | g.44147685C>T | CA454608583 | GCK | c.*826G>A (n.*826G>A) c.828G>A (p.Leu276=) c.831G>A (p.Leu277=) c.825G>A (p.Leu275=) c.777G>A (p.Leu259=) n.19C>T | |
| 7 | g.44147686A>C | CA367400475 | GCK | c.*825T>G (n.*825T>G) c.827T>G (p.Leu276Arg) c.830T>G (p.Leu277Arg) c.824T>G (p.Leu275Arg) c.776T>G (p.Leu259Arg) n.20A>C | |
| 7 | g.44147686A>G | CA367400473 | GCK | c.*825T>C (n.*825T>C) c.827T>C (p.Leu276Pro) c.830T>C (p.Leu277Pro) c.824T>C (p.Leu275Pro) c.776T>C (p.Leu259Pro) n.20A>G | |
| 7 | g.44147686A>T | CA367400474 | GCK | c.*825T>A (n.*825T>A) c.827T>A (p.Leu276Gln) c.830T>A (p.Leu277Gln) c.824T>A (p.Leu275Gln) c.776T>A (p.Leu259Gln) n.20A>T | |
| 7 | g.44147687G>A | CA454608585 | GCK | c.*824C>T (n.*824C>T) c.826C>T (p.Leu276=) c.829C>T (p.Leu277=) c.823C>T (p.Leu275=) c.775C>T (p.Leu259=) n.21G>A | |
| 7 | g.44147687G>C | CA157915604 | GCK | c.*824C>G (n.*824C>G) c.826C>G (p.Leu276Val) c.829C>G (p.Leu277Val) c.823C>G (p.Leu275Val) c.775C>G (p.Leu259Val) n.21G>C | dbSNP |
| 7 | g.44147687G= | CA1703634886 | GCK | c.*824C= (n.*824C=) c.826C= (p.Leu276=) c.829C= (p.Leu277=) c.823C= (p.Leu275=) c.775C= (p.Leu259=) n.21G= | |
| 7 | g.44147687G>T | CA367400476 | GCK | c.*824C>A (n.*824C>A) c.826C>A (p.Leu276Met) c.829C>A (p.Leu277Met) c.823C>A (p.Leu275Met) c.775C>A (p.Leu259Met) n.21G>T | |
| 7 | g.44147688G>A | CA454608586 | GCK | c.*823C>T (n.*823C>T) c.825C>T (p.Arg275=) c.828C>T (p.Arg276=) c.822C>T (p.Arg274=) c.774C>T (p.Arg258=) n.22G>A | |
| 7 | g.44147688G>C | CA454608587 | GCK | c.*823C>G (n.*823C>G) c.825C>G (p.Arg275=) c.828C>G (p.Arg276=) c.822C>G (p.Arg274=) c.774C>G (p.Arg258=) n.22G>C | |
| 7 | g.44147688G>T | CA454608589 | GCK | c.*823C>A (n.*823C>A) c.825C>A (p.Arg275=) c.828C>A (p.Arg276=) c.822C>A (p.Arg274=) c.774C>A (p.Arg258=) n.22G>T | |
| 7 | g.44147689C>A | CA367400477 | GCK | c.*822G>T (n.*822G>T) c.824G>T (p.Arg275Leu) c.827G>T (p.Arg276Leu) c.821G>T (p.Arg274Leu) c.773G>T (p.Arg258Leu) n.23C>A | ClinVar dbSNP gnomAD v2 |
| 7 | g.44147689C= | CA1703634887 | GCK | c.*822G= (n.*822G=) c.824G= (p.Arg275=) c.827G= (p.Arg276=) c.821G= (p.Arg274=) c.773G= (p.Arg258=) n.23C= | |
| 7 | g.44147689C>G | CA367400478 | GCK | c.*822G>C (n.*822G>C) c.824G>C (p.Arg275Pro) c.827G>C (p.Arg276Pro) c.821G>C (p.Arg274Pro) c.773G>C (p.Arg258Pro) n.23C>G | ClinVar |
| 7 | g.44147689C>T | CA4239518 | GCK | c.*822G>A (n.*822G>A) c.824G>A (p.Arg275His) c.827G>A (p.Arg276His) c.821G>A (p.Arg274His) c.773G>A (p.Arg258His) n.23C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147690G>A | CA4239519 | GCK | c.*821C>T (n.*821C>T) c.823C>T (p.Arg275Cys) c.826C>T (p.Arg276Cys) c.820C>T (p.Arg274Cys) c.772C>T (p.Arg258Cys) n.24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147690G>C | CA367400479 | GCK | c.*821C>G (n.*821C>G) c.823C>G (p.Arg275Gly) c.826C>G (p.Arg276Gly) c.820C>G (p.Arg274Gly) c.772C>G (p.Arg258Gly) n.24G>C | ClinVar gnomAD v4 |
| 7 | g.44147690G= | CA1703634888 | GCK | c.*821C= (n.*821C=) c.823C= (p.Arg275=) c.826C= (p.Arg276=) c.820C= (p.Arg274=) c.772C= (p.Arg258=) n.24G= | |
| 7 | g.44147690G>T | CA367400480 | GCK | c.*821C>A (n.*821C>A) c.823C>A (p.Arg275Ser) c.826C>A (p.Arg276Ser) c.820C>A (p.Arg274Ser) c.772C>A (p.Arg258Ser) n.24G>T | |
| 7 | g.44147691G>A | CA4239520 | GCK | c.*820C>T (n.*820C>T) c.822C>T (p.Asp274=) c.825C>T (p.Asp275=) c.819C>T (p.Asp273=) c.771C>T (p.Asp257=) n.25G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147691G>C | CA367400481 | GCK | c.*820C>G (n.*820C>G) c.822C>G (p.Asp274Glu) c.825C>G (p.Asp275Glu) c.819C>G (p.Asp273Glu) c.771C>G (p.Asp257Glu) n.25G>C | |
| 7 | g.44147691G= | CA1703634889 | GCK | c.*820C= (n.*820C=) c.822C= (p.Asp274=) c.825C= (p.Asp275=) c.819C= (p.Asp273=) c.771C= (p.Asp257=) n.25G= | |
| 7 | g.44147691G>T | CA367400482 | GCK | c.*820C>A (n.*820C>A) c.822C>A (p.Asp274Glu) c.825C>A (p.Asp275Glu) c.819C>A (p.Asp273Glu) c.771C>A (p.Asp257Glu) n.25G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44147692T>A | CA367400484 | GCK | c.*819A>T (n.*819A>T) c.821A>T (p.Asp274Val) c.824A>T (p.Asp275Val) c.818A>T (p.Asp273Val) c.770A>T (p.Asp257Val) n.26T>A | |
| 7 | g.44147692T>C | CA367400485 | GCK | c.*819A>G (n.*819A>G) c.821A>G (p.Asp274Gly) c.824A>G (p.Asp275Gly) c.818A>G (p.Asp273Gly) c.770A>G (p.Asp257Gly) n.26T>C | |
| 7 | g.44147692T>G | CA367400483 | GCK | c.*819A>C (n.*819A>C) c.821A>C (p.Asp274Ala) c.824A>C (p.Asp275Ala) c.818A>C (p.Asp273Ala) c.770A>C (p.Asp257Ala) n.26T>G | |
| 7 | g.44147693C>A | CA367400486 | GCK | c.*818G>T (n.*818G>T) c.820G>T (p.Asp274Tyr) c.823G>T (p.Asp275Tyr) c.817G>T (p.Asp273Tyr) c.769G>T (p.Asp257Tyr) n.27C>A | |
| 7 | g.44147693C= | CA1703634890 | GCK | c.*818G= (n.*818G=) c.820G= (p.Asp274=) c.823G= (p.Asp275=) c.817G= (p.Asp273=) c.769G= (p.Asp257=) n.27C= | |
| 7 | g.44147693C>G | CA367400487 | GCK | c.*818G>C (n.*818G>C) c.820G>C (p.Asp274His) c.823G>C (p.Asp275His) c.817G>C (p.Asp273His) c.769G>C (p.Asp257His) n.27C>G | ClinVar dbSNP |
| 7 | g.44147693C>T | CA367400488 | GCK | c.*818G>A (n.*818G>A) c.820G>A (p.Asp274Asn) c.823G>A (p.Asp275Asn) c.817G>A (p.Asp273Asn) c.769G>A (p.Asp257Asn) n.27C>T | |
| 7 | g.44147694A= | CA1703634891 | GCK | c.*817T= (n.*817T=) c.819T= (p.Tyr273=) c.822T= (p.Tyr274=) c.816T= (p.Tyr272=) c.768T= (p.Tyr256=) n.28A= | |
| 7 | g.44147694A>C | CA367400489 | GCK | c.*817T>G (n.*817T>G) c.819T>G (p.Tyr273Ter) c.822T>G (p.Tyr274Ter) c.816T>G (p.Tyr272Ter) c.768T>G (p.Tyr256Ter) n.28A>C | |
| 7 | g.44147694A>G | CA454608606 | GCK | c.*817T>C (n.*817T>C) c.819T>C (p.Tyr273=) c.822T>C (p.Tyr274=) c.816T>C (p.Tyr272=) c.768T>C (p.Tyr256=) n.28A>G | |
| 7 | g.44147694A>T | CA367400490 | GCK | c.*817T>A (n.*817T>A) c.819T>A (p.Tyr273Ter) c.822T>A (p.Tyr274Ter) c.816T>A (p.Tyr272Ter) c.768T>A (p.Tyr256Ter) n.28A>T | ClinVar dbSNP |
| 7 | g.44147695T>A | CA367400491 | GCK | c.*816A>T (n.*816A>T) c.818A>T (p.Tyr273Phe) c.821A>T (p.Tyr274Phe) c.815A>T (p.Tyr272Phe) c.767A>T (p.Tyr256Phe) n.29T>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147695T>C | CA367400492 | GCK | c.*816A>G (n.*816A>G) c.818A>G (p.Tyr273Cys) c.821A>G (p.Tyr274Cys) c.815A>G (p.Tyr272Cys) c.767A>G (p.Tyr256Cys) n.29T>C | ClinVar |
| 7 | g.44147695T>G | CA367400493 | GCK | c.*816A>C (n.*816A>C) c.818A>C (p.Tyr273Ser) c.821A>C (p.Tyr274Ser) c.815A>C (p.Tyr272Ser) c.767A>C (p.Tyr256Ser) n.29T>G | |
| 7 | g.44147695T= | CA1703634892 | GCK | c.*816A= (n.*816A=) c.818A= (p.Tyr273=) c.821A= (p.Tyr274=) c.815A= (p.Tyr272=) c.767A= (p.Tyr256=) n.29T= | |
| 7 | g.44147696A>C | CA367400494 | GCK | c.*815T>G (n.*815T>G) c.817T>G (p.Tyr273Asp) c.820T>G (p.Tyr274Asp) c.814T>G (p.Tyr272Asp) c.766T>G (p.Tyr256Asp) n.30A>C | |
| 7 | g.44147696A>G | CA367400495 | GCK | c.*815T>C (n.*815T>C) c.817T>C (p.Tyr273His) c.820T>C (p.Tyr274His) c.814T>C (p.Tyr272His) c.766T>C (p.Tyr256His) n.30A>G | |
| 7 | g.44147696A>T | CA367400496 | GCK | c.*815T>A (n.*815T>A) c.817T>A (p.Tyr273Asn) c.820T>A (p.Tyr274Asn) c.814T>A (p.Tyr272Asn) c.766T>A (p.Tyr256Asn) n.30A>T | |
| 7 | g.44147697C>A | CA367400497 | GCK | c.*814G>T (n.*814G>T) c.816G>T (p.Glu272Asp) c.819G>T (p.Glu273Asp) c.813G>T (p.Glu271Asp) c.765G>T (p.Glu255Asp) n.31C>A | |
| 7 | g.44147697C>G | CA367400498 | GCK | c.*814G>C (n.*814G>C) c.816G>C (p.Glu272Asp) c.819G>C (p.Glu273Asp) c.813G>C (p.Glu271Asp) c.765G>C (p.Glu255Asp) n.31C>G | |
| 7 | g.44147697C>T | CA454608616 | GCK | c.*814G>A (n.*814G>A) c.816G>A (p.Glu272=) c.819G>A (p.Glu273=) c.813G>A (p.Glu271=) c.765G>A (p.Glu255=) n.31C>T | gnomAD v4 |
| 7 | g.44147702_44147809del | CA2695203087 | GCK | c.*707_*814del (n.*707_*814del) c.709_816del (p.Glu237_Glu272del) c.712_819del (p.Glu238_Glu273del) c.706_813del (p.Glu236_Glu271del) c.658_765del (p.Glu220_Glu255del) n.36_82+61del | |
| 7 | g.44147698T>A | CA367400501 | GCK | c.*813A>T (n.*813A>T) c.815A>T (p.Glu272Val) c.818A>T (p.Glu273Val) c.812A>T (p.Glu271Val) c.764A>T (p.Glu255Val) n.32T>A | |
| 7 | g.44147698T>C | CA367400500 | GCK | c.*813A>G (n.*813A>G) c.815A>G (p.Glu272Gly) c.818A>G (p.Glu273Gly) c.812A>G (p.Glu271Gly) c.764A>G (p.Glu255Gly) n.32T>C | |
| 7 | g.44147698T>G | CA367400499 | GCK | c.*813A>C (n.*813A>C) c.815A>C (p.Glu272Ala) c.818A>C (p.Glu273Ala) c.812A>C (p.Glu271Ala) c.764A>C (p.Glu255Ala) n.32T>G | dbSNP |
| 7 | g.44147698T= | CA1703634893 | GCK | c.*813A= (n.*813A=) c.815A= (p.Glu272=) c.818A= (p.Glu273=) c.812A= (p.Glu271=) c.764A= (p.Glu255=) n.32T= | |
| 7 | g.44147699C>A | CA367400502 | GCK | c.*812G>T (n.*812G>T) c.814G>T (p.Glu272Ter) c.817G>T (p.Glu273Ter) c.811G>T (p.Glu271Ter) c.763G>T (p.Glu255Ter) n.33C>A | ClinVar |
| 7 | g.44147699C>G | CA367400503 | GCK | c.*812G>C (n.*812G>C) c.814G>C (p.Glu272Gln) c.817G>C (p.Glu273Gln) c.811G>C (p.Glu271Gln) c.763G>C (p.Glu255Gln) n.33C>G | |
| 7 | g.44147699C>T | CA367400504 | GCK | c.*812G>A (n.*812G>A) c.814G>A (p.Glu272Lys) c.817G>A (p.Glu273Lys) c.811G>A (p.Glu271Lys) c.763G>A (p.Glu255Lys) n.33C>T | gnomAD v4 |
| 7 | g.44147699_44147702delinsCCAG | CA1703634894 | GCK | c.*809_*812delinsCTGG (n.*809_*812delinsCTGG) c.811_814delinsCTGG (p.Leu271=) c.814_817delinsCTGG (p.Leu272=) c.808_811delinsCTGG (p.Leu270=) c.760_763delinsCTGG (p.Leu254=) n.33_36delinsCCAG | |
| 7 | g.44147699_44147703del | CA2580615880 | GCK | c.*808_*812del (n.*808_*812del) c.810_814del (p.Leu271ValfsTer2) c.813_817del (p.Leu272ValfsTer2) c.807_811del (p.Leu270ValfsTer2) c.759_763del (p.Leu254ValfsTer2) n.33_37del | ClinVar |
| 7 | g.44147700C>A | CA454608619 | GCK | c.*811G>T (n.*811G>T) c.813G>T (p.Leu271=) c.816G>T (p.Leu272=) c.810G>T (p.Leu270=) c.762G>T (p.Leu254=) n.34C>A | |
| 7 | g.44147700C>G | CA454608620 | GCK | c.*811G>C (n.*811G>C) c.813G>C (p.Leu271=) c.816G>C (p.Leu272=) c.810G>C (p.Leu270=) c.762G>C (p.Leu254=) n.34C>G | |
| 7 | g.44147700C>T | CA454608624 | GCK | c.*811G>A (n.*811G>A) c.813G>A (p.Leu271=) c.816G>A (p.Leu272=) c.810G>A (p.Leu270=) c.762G>A (p.Leu254=) n.34C>T | |
| 7 | g.44147703_44147705del | CA1703634895 | GCK | c.*809_*811del (n.*809_*811del) c.811_813del (p.Leu271del) c.814_816del (p.Leu272del) c.808_810del (p.Leu270del) c.760_762del (p.Leu254del) n.37_39del | ClinVar dbSNP |
| 7 | g.44147701A= | CA1703634896 | GCK | c.*810T= (n.*810T=) c.812T= (p.Leu271=) c.815T= (p.Leu272=) c.809T= (p.Leu270=) c.761T= (p.Leu254=) n.35A= | |
| 7 | g.44147701A>C | CA367400505 | GCK | c.*810T>G (n.*810T>G) c.812T>G (p.Leu271Arg) c.815T>G (p.Leu272Arg) c.809T>G (p.Leu270Arg) c.761T>G (p.Leu254Arg) n.35A>C | |
| 7 | g.44147701A>G | CA213854 | GCK | c.*810T>C (n.*810T>C) c.812T>C (p.Leu271Pro) c.815T>C (p.Leu272Pro) c.809T>C (p.Leu270Pro) c.761T>C (p.Leu254Pro) n.35A>G | ClinVar dbSNP |
| 7 | g.44147701A>T | CA367400506 | GCK | c.*810T>A (n.*810T>A) c.812T>A (p.Leu271Gln) c.815T>A (p.Leu272Gln) c.809T>A (p.Leu270Gln) c.761T>A (p.Leu254Gln) n.35A>T |