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.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 | |
| 7 | g.44147702G>A | CA454608632 | GCK | c.*809C>T (n.*809C>T) c.811C>T (p.Leu271=) c.814C>T (p.Leu272=) c.808C>T (p.Leu270=) c.760C>T (p.Leu254=) n.36G>A | |
| 7 | g.44147702G>C | CA367400507 | GCK | c.*809C>G (n.*809C>G) c.811C>G (p.Leu271Val) c.814C>G (p.Leu272Val) c.808C>G (p.Leu270Val) c.760C>G (p.Leu254Val) n.36G>C | |
| 7 | g.44147702G>T | CA367400508 | GCK | c.*809C>A (n.*809C>A) c.811C>A (p.Leu271Met) c.814C>A (p.Leu272Met) c.808C>A (p.Leu270Met) c.760C>A (p.Leu254Met) n.36G>T | COSMIC COSMIC COSMIC |
| 7 | g.44147703C>A | CA454608635 | GCK | c.*808G>T (n.*808G>T) c.810G>T (p.Leu270=) c.813G>T (p.Leu271=) c.807G>T (p.Leu269=) c.759G>T (p.Leu253=) n.37C>A | |
| 7 | g.44147703C>G | CA454608633 | GCK | c.*808G>C (n.*808G>C) c.810G>C (p.Leu270=) c.813G>C (p.Leu271=) c.807G>C (p.Leu269=) c.759G>C (p.Leu253=) n.37C>G | |
| 7 | g.44147703C>T | CA454608634 | GCK | c.*808G>A (n.*808G>A) c.810G>A (p.Leu270=) c.813G>A (p.Leu271=) c.807G>A (p.Leu269=) c.759G>A (p.Leu253=) n.37C>T | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147704A= | CA1703634897 | GCK | c.*807T= (n.*807T=) c.809T= (p.Leu270=) c.812T= (p.Leu271=) c.806T= (p.Leu269=) c.758T= (p.Leu253=) n.38A= | |
| 7 | g.44147704A>C | CA367400509 | GCK | c.*807T>G (n.*807T>G) c.809T>G (p.Leu270Arg) c.812T>G (p.Leu271Arg) c.806T>G (p.Leu269Arg) c.758T>G (p.Leu253Arg) n.38A>C | |
| 7 | g.44147704A>G | CA367400510 | GCK | c.*807T>C (n.*807T>C) c.809T>C (p.Leu270Pro) c.812T>C (p.Leu271Pro) c.806T>C (p.Leu269Pro) c.758T>C (p.Leu253Pro) n.38A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147704A>T | CA367400511 | GCK | c.*807T>A (n.*807T>A) c.809T>A (p.Leu270Gln) c.812T>A (p.Leu271Gln) c.806T>A (p.Leu269Gln) c.758T>A (p.Leu253Gln) n.38A>T | ClinVar |
| 7 | g.44147705G>A | CA454608639 | GCK | c.*806C>T (n.*806C>T) c.808C>T (p.Leu270=) c.811C>T (p.Leu271=) c.805C>T (p.Leu269=) c.757C>T (p.Leu253=) n.39G>A | dbSNP |
| 7 | g.44147705G>C | CA367400512 | GCK | c.*806C>G (n.*806C>G) c.808C>G (p.Leu270Val) c.811C>G (p.Leu271Val) c.805C>G (p.Leu269Val) c.757C>G (p.Leu253Val) n.39G>C | gnomAD v4 |
| 7 | g.44147705G= | CA1703634898 | GCK | c.*806C= (n.*806C=) c.808C= (p.Leu270=) c.811C= (p.Leu271=) c.805C= (p.Leu269=) c.757C= (p.Leu253=) n.39G= | |
| 7 | g.44147705G>T | CA367400513 | GCK | c.*806C>A (n.*806C>A) c.808C>A (p.Leu270Met) c.811C>A (p.Leu271Met) c.805C>A (p.Leu269Met) c.757C>A (p.Leu253Met) n.39G>T | |
| 7 | g.44147706G>A | CA454608640 | GCK | c.*805C>T (n.*805C>T) c.807C>T (p.Phe269=) c.810C>T (p.Phe270=) c.804C>T (p.Phe268=) c.756C>T (p.Phe252=) n.40G>A | |
| 7 | g.44147706G>C | CA367400515 | GCK | c.*805C>G (n.*805C>G) c.807C>G (p.Phe269Leu) c.810C>G (p.Phe270Leu) c.804C>G (p.Phe268Leu) c.756C>G (p.Phe252Leu) n.40G>C | |
| 7 | g.44147706G>T | CA367400514 | GCK | c.*805C>A (n.*805C>A) c.807C>A (p.Phe269Leu) c.810C>A (p.Phe270Leu) c.804C>A (p.Phe268Leu) c.756C>A (p.Phe252Leu) n.40G>T | |
| 7 | g.44147707A>C | CA367400516 | GCK | c.*804T>G (n.*804T>G) c.806T>G (p.Phe269Cys) c.809T>G (p.Phe270Cys) c.803T>G (p.Phe268Cys) c.755T>G (p.Phe252Cys) n.41A>C | |
| 7 | g.44147707A>G | CA367400518 | GCK | c.*804T>C (n.*804T>C) c.806T>C (p.Phe269Ser) c.809T>C (p.Phe270Ser) c.803T>C (p.Phe268Ser) c.755T>C (p.Phe252Ser) n.41A>G | |
| 7 | g.44147707A>T | CA367400517 | GCK | c.*804T>A (n.*804T>A) c.806T>A (p.Phe269Tyr) c.809T>A (p.Phe270Tyr) c.803T>A (p.Phe268Tyr) c.755T>A (p.Phe252Tyr) n.41A>T | |
| 7 | g.44147708A>C | CA367400519 | GCK | c.*803T>G (n.*803T>G) c.805T>G (p.Phe269Val) c.808T>G (p.Phe270Val) c.802T>G (p.Phe268Val) c.754T>G (p.Phe252Val) n.42A>C | |
| 7 | g.44147708A>G | CA367400520 | GCK | c.*803T>C (n.*803T>C) c.805T>C (p.Phe269Leu) c.808T>C (p.Phe270Leu) c.802T>C (p.Phe268Leu) c.754T>C (p.Phe252Leu) n.42A>G | |
| 7 | g.44147708A>T | CA367400521 | GCK | c.*803T>A (n.*803T>A) c.805T>A (p.Phe269Ile) c.808T>A (p.Phe270Ile) c.802T>A (p.Phe268Ile) c.754T>A (p.Phe252Ile) n.42A>T | |
| 7 | g.44147709C>A | CA367400522 | GCK | c.*802G>T (n.*802G>T) c.804G>T (p.Glu268Asp) c.807G>T (p.Glu269Asp) c.801G>T (p.Glu267Asp) c.753G>T (p.Glu251Asp) n.43C>A | dbSNP |
| 7 | g.44147709C= | CA1703634899 | GCK | c.*802G= (n.*802G=) c.804G= (p.Glu268=) c.807G= (p.Glu269=) c.801G= (p.Glu267=) c.753G= (p.Glu251=) n.43C= | |
| 7 | g.44147709C>G | CA367400523 | GCK | c.*802G>C (n.*802G>C) c.804G>C (p.Glu268Asp) c.807G>C (p.Glu269Asp) c.801G>C (p.Glu267Asp) c.753G>C (p.Glu251Asp) n.43C>G | |
| 7 | g.44147709C>T | CA454608654 | GCK | c.*802G>A (n.*802G>A) c.804G>A (p.Glu268=) c.807G>A (p.Glu269=) c.801G>A (p.Glu267=) c.753G>A (p.Glu251=) n.43C>T | gnomAD v4 |
| 7 | g.44147710T>A | CA367400526 | GCK | c.*801A>T (n.*801A>T) c.803A>T (p.Glu268Val) c.806A>T (p.Glu269Val) c.800A>T (p.Glu267Val) c.752A>T (p.Glu251Val) n.44T>A | |
| 7 | g.44147710T>C | CA367400525 | GCK | c.*801A>G (n.*801A>G) c.803A>G (p.Glu268Gly) c.806A>G (p.Glu269Gly) c.800A>G (p.Glu267Gly) c.752A>G (p.Glu251Gly) n.44T>C | |
| 7 | g.44147710T>G | CA367400524 | GCK | c.*801A>C (n.*801A>C) c.803A>C (p.Glu268Ala) c.806A>C (p.Glu269Ala) c.800A>C (p.Glu267Ala) c.752A>C (p.Glu251Ala) n.44T>G | |
| 7 | g.44147711C>A | CA367400527 | GCK | c.*800G>T (n.*800G>T) c.802G>T (p.Glu268Ter) c.805G>T (p.Glu269Ter) c.799G>T (p.Glu267Ter) c.751G>T (p.Glu251Ter) n.45C>A | |
| 7 | g.44147711C= | CA1703634900 | GCK | c.*800G= (n.*800G=) c.802G= (p.Glu268=) c.805G= (p.Glu269=) c.799G= (p.Glu267=) c.751G= (p.Glu251=) n.45C= | |
| 7 | g.44147711C>G | CA367400528 | GCK | c.*800G>C (n.*800G>C) c.802G>C (p.Glu268Gln) c.805G>C (p.Glu269Gln) c.799G>C (p.Glu267Gln) c.751G>C (p.Glu251Gln) n.45C>G | |
| 7 | g.44147711C>T | CA367400529 | GCK | c.*800G>A (n.*800G>A) c.802G>A (p.Glu268Lys) c.805G>A (p.Glu269Lys) c.799G>A (p.Glu267Lys) c.751G>A (p.Glu251Lys) n.45C>T | ClinVar dbSNP |
| 7 | g.44147712G>A | CA4239521 | GCK | c.*799C>T (n.*799C>T) c.801C>T (p.Asp267=) c.804C>T (p.Asp268=) c.798C>T (p.Asp266=) c.750C>T (p.Asp250=) n.46G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147712G>C | CA367400530 | GCK | c.*799C>G (n.*799C>G) c.801C>G (p.Asp267Glu) c.804C>G (p.Asp268Glu) c.798C>G (p.Asp266Glu) c.750C>G (p.Asp250Glu) n.46G>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44147712G= | CA1703634901 | GCK | c.*799C= (n.*799C=) c.801C= (p.Asp267=) c.804C= (p.Asp268=) c.798C= (p.Asp266=) c.750C= (p.Asp250=) n.46G= | |
| 7 | g.44147712G>T | CA367400531 | GCK | c.*799C>A (n.*799C>A) c.801C>A (p.Asp267Glu) c.804C>A (p.Asp268Glu) c.798C>A (p.Asp266Glu) c.750C>A (p.Asp250Glu) n.46G>T | gnomAD v4 |
| 7 | g.44147716_44147730del | CA2695203089 | GCK | c.*785_*799del (n.*785_*799del) c.787_801del (p.Ser263_Asp267del) c.790_804del (p.Ser264_Asp268del) c.784_798del (p.Ser262_Asp266del) c.736_750del (p.Ser246_Asp250del) n.50_64del | |
| 7 | g.44147713T>A | CA367400532 | GCK | c.*798A>T (n.*798A>T) c.800A>T (p.Asp267Val) c.803A>T (p.Asp268Val) c.797A>T (p.Asp266Val) c.749A>T (p.Asp250Val) n.47T>A | |
| 7 | g.44147713T>C | CA367400534 | GCK | c.*798A>G (n.*798A>G) c.800A>G (p.Asp267Gly) c.803A>G (p.Asp268Gly) c.797A>G (p.Asp266Gly) c.749A>G (p.Asp250Gly) n.47T>C | gnomAD v4 |
| 7 | g.44147713T>G | CA367400533 | GCK | c.*798A>C (n.*798A>C) c.800A>C (p.Asp267Ala) c.803A>C (p.Asp268Ala) c.797A>C (p.Asp266Ala) c.749A>C (p.Asp250Ala) n.47T>G | |
| 7 | g.44147714C>A | CA367400535 | GCK | c.*797G>T (n.*797G>T) c.799G>T (p.Asp267Tyr) c.802G>T (p.Asp268Tyr) c.796G>T (p.Asp266Tyr) c.748G>T (p.Asp250Tyr) n.48C>A | |
| 7 | g.44147714C>G | CA367400536 | GCK | c.*797G>C (n.*797G>C) c.799G>C (p.Asp267His) c.802G>C (p.Asp268His) c.796G>C (p.Asp266His) c.748G>C (p.Asp250His) n.48C>G | ClinVar |
| 7 | g.44147714C>T | CA367400537 | GCK | c.*797G>A (n.*797G>A) c.799G>A (p.Asp267Asn) c.802G>A (p.Asp268Asn) c.796G>A (p.Asp266Asn) c.748G>A (p.Asp250Asn) n.48C>T | |
| 7 | g.44147715C>A | CA454608661 | GCK | c.*796G>T (n.*796G>T) c.798G>T (p.Leu266=) c.801G>T (p.Leu267=) c.795G>T (p.Leu265=) c.747G>T (p.Leu249=) n.49C>A | |
| 7 | g.44147715C>G | CA454608663 | GCK | c.*796G>C (n.*796G>C) c.798G>C (p.Leu266=) c.801G>C (p.Leu267=) c.795G>C (p.Leu265=) c.747G>C (p.Leu249=) n.49C>G | |
| 7 | g.44147715C>T | CA454608666 | GCK | c.*796G>A (n.*796G>A) c.798G>A (p.Leu266=) c.801G>A (p.Leu267=) c.795G>A (p.Leu265=) c.747G>A (p.Leu249=) n.49C>T | |
| 7 | g.44147716A>C | CA367400538 | GCK | c.*795T>G (n.*795T>G) c.797T>G (p.Leu266Arg) c.800T>G (p.Leu267Arg) c.794T>G (p.Leu265Arg) c.746T>G (p.Leu249Arg) n.50A>C | |
| 7 | g.44147716A>G | CA367400539 | GCK | c.*795T>C (n.*795T>C) c.797T>C (p.Leu266Pro) c.800T>C (p.Leu267Pro) c.794T>C (p.Leu265Pro) c.746T>C (p.Leu249Pro) n.50A>G | ClinVar |
| 7 | g.44147716A>T | CA367400540 | GCK | c.*795T>A (n.*795T>A) c.797T>A (p.Leu266Gln) c.800T>A (p.Leu267Gln) c.794T>A (p.Leu265Gln) c.746T>A (p.Leu249Gln) n.50A>T | ClinVar |
| 7 | g.44147717G>A | CA454608669 | GCK | c.*794C>T (n.*794C>T) c.796C>T (p.Leu266=) c.799C>T (p.Leu267=) c.793C>T (p.Leu265=) c.745C>T (p.Leu249=) n.51G>A | |
| 7 | g.44147717G>C | CA367400541 | GCK | c.*794C>G (n.*794C>G) c.796C>G (p.Leu266Val) c.799C>G (p.Leu267Val) c.793C>G (p.Leu265Val) c.745C>G (p.Leu249Val) n.51G>C | gnomAD v4 |
| 7 | g.44147717G>T | CA367400542 | GCK | c.*794C>A (n.*794C>A) c.796C>A (p.Leu266Met) c.799C>A (p.Leu267Met) c.793C>A (p.Leu265Met) c.745C>A (p.Leu249Met) n.51G>T | gnomAD v4 |
| 7 | g.44147718C>A | CA367400543 | GCK | c.*793G>T (n.*793G>T) c.795G>T (p.Glu265Asp) c.798G>T (p.Glu266Asp) c.792G>T (p.Glu264Asp) c.744G>T (p.Glu248Asp) n.52C>A | |
| 7 | g.44147718C>G | CA367400544 | GCK | c.*793G>C (n.*793G>C) c.795G>C (p.Glu265Asp) c.798G>C (p.Glu266Asp) c.792G>C (p.Glu264Asp) c.744G>C (p.Glu248Asp) n.52C>G | |
| 7 | g.44147718C>T | CA454608672 | GCK | c.*793G>A (n.*793G>A) c.795G>A (p.Glu265=) c.798G>A (p.Glu266=) c.792G>A (p.Glu264=) c.744G>A (p.Glu248=) n.52C>T | |
| 7 | g.44147719T>A | CA367400547 | GCK | c.*792A>T (n.*792A>T) c.794A>T (p.Glu265Val) c.797A>T (p.Glu266Val) c.791A>T (p.Glu264Val) c.743A>T (p.Glu248Val) n.53T>A | |
| 7 | g.44147719T>C | CA367400546 | GCK | c.*792A>G (n.*792A>G) c.794A>G (p.Glu265Gly) c.797A>G (p.Glu266Gly) c.791A>G (p.Glu264Gly) c.743A>G (p.Glu248Gly) n.53T>C | |
| 7 | g.44147719T>G | CA367400545 | GCK | c.*792A>C (n.*792A>C) c.794A>C (p.Glu265Ala) c.797A>C (p.Glu266Ala) c.791A>C (p.Glu264Ala) c.743A>C (p.Glu248Ala) n.53T>G | |
| 7 | g.44147720C>A | CA126214 | GCK | c.*791G>T (n.*791G>T) c.793G>T (p.Glu265Ter) c.796G>T (p.Glu266Ter) c.790G>T (p.Glu264Ter) c.742G>T (p.Glu248Ter) n.54C>A | ClinVar dbSNP |
| 7 | g.44147720C= | CA1703634902 | GCK | c.*791G= (n.*791G=) c.793G= (p.Glu265=) c.796G= (p.Glu266=) c.790G= (p.Glu264=) c.742G= (p.Glu248=) n.54C= | |
| 7 | g.44147720C>G | CA367400549 | GCK | c.*791G>C (n.*791G>C) c.793G>C (p.Glu265Gln) c.796G>C (p.Glu266Gln) c.790G>C (p.Glu264Gln) c.742G>C (p.Glu248Gln) n.54C>G | |
| 7 | g.44147720C>T | CA367400548 | GCK | c.*791G>A (n.*791G>A) c.793G>A (p.Glu265Lys) c.796G>A (p.Glu266Lys) c.790G>A (p.Glu264Lys) c.742G>A (p.Glu248Lys) n.54C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147721G>A | CA4239522 | GCK | c.*790C>T (n.*790C>T) c.792C>T (p.Gly264=) c.795C>T (p.Gly265=) c.789C>T (p.Gly263=) c.741C>T (p.Gly247=) n.55G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147721G>C | CA454608682 | GCK | c.*790C>G (n.*790C>G) c.792C>G (p.Gly264=) c.795C>G (p.Gly265=) c.789C>G (p.Gly263=) c.741C>G (p.Gly247=) n.55G>C | |
| 7 | g.44147721G= | CA1703634903 | GCK | c.*790C= (n.*790C=) c.792C= (p.Gly264=) c.795C= (p.Gly265=) c.789C= (p.Gly263=) c.741C= (p.Gly247=) n.55G= | |
| 7 | g.44147721G>T | CA454608684 | GCK | c.*790C>A (n.*790C>A) c.792C>A (p.Gly264=) c.795C>A (p.Gly265=) c.789C>A (p.Gly263=) c.741C>A (p.Gly247=) n.55G>T | ClinVar dbSNP |
| 7 | g.44147722C>A | CA367400550 | GCK | c.*789G>T (n.*789G>T) c.791G>T (p.Gly264Val) c.794G>T (p.Gly265Val) c.788G>T (p.Gly263Val) c.740G>T (p.Gly247Val) n.56C>A | |
| 7 | g.44147722C>G | CA367400551 | GCK | c.*789G>C (n.*789G>C) c.791G>C (p.Gly264Ala) c.794G>C (p.Gly265Ala) c.788G>C (p.Gly263Ala) c.740G>C (p.Gly247Ala) n.56C>G | |
| 7 | g.44147722C>T | CA367400552 | GCK | c.*789G>A (n.*789G>A) c.791G>A (p.Gly264Asp) c.794G>A (p.Gly265Asp) c.788G>A (p.Gly263Asp) c.740G>A (p.Gly247Asp) n.56C>T | |
| 7 | g.44147722_44147723dup | CA2695203090 | GCK | c.*788_*789dup (n.*788_*789dup) c.790_791dup (p.Glu265AlafsTer23) c.793_794dup (p.Glu266AlafsTer30) c.790_791dup (p.Glu265AlafsTer30) c.790_791dup (p.Glu265AlafsTer?) c.787_788dup (p.Glu264AlafsTer30) c.739_740dup (p.Glu248AlafsTer30) n.56_57dup | |
| 7 | g.44147723C>A | CA367400553 | GCK | c.*788G>T (n.*788G>T) c.790G>T (p.Gly264Cys) c.793G>T (p.Gly265Cys) c.787G>T (p.Gly263Cys) c.739G>T (p.Gly247Cys) n.57C>A | |
| 7 | g.44147723C= | CA1703634904 | GCK | c.*788G= (n.*788G=) c.790G= (p.Gly264=) c.793G= (p.Gly265=) c.787G= (p.Gly263=) c.739G= (p.Gly247=) n.57C= | |
| 7 | g.44147723C>G | CA367400554 | GCK | c.*788G>C (n.*788G>C) c.790G>C (p.Gly264Arg) c.793G>C (p.Gly265Arg) c.787G>C (p.Gly263Arg) c.739G>C (p.Gly247Arg) n.57C>G | |
| 7 | g.44147723C>T | CA341589 | GCK | c.*788G>A (n.*788G>A) c.790G>A (p.Gly264Ser) c.793G>A (p.Gly265Ser) c.787G>A (p.Gly263Ser) c.739G>A (p.Gly247Ser) n.57C>T | ClinVar dbSNP |
| 7 | g.44147724G>A | CA4239523 | GCK | c.*787C>T (n.*787C>T) c.789C>T (p.Ser263=) c.792C>T (p.Ser264=) c.786C>T (p.Ser262=) c.738C>T (p.Ser246=) n.58G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147724G>C | CA454608693 | GCK | c.*787C>G (n.*787C>G) c.789C>G (p.Ser263=) c.792C>G (p.Ser264=) c.786C>G (p.Ser262=) c.738C>G (p.Ser246=) n.58G>C | |
| 7 | g.44147724G= | CA1703634905 | GCK | c.*787C= (n.*787C=) c.789C= (p.Ser263=) c.792C= (p.Ser264=) c.786C= (p.Ser262=) c.738C= (p.Ser246=) n.58G= | |
| 7 | g.44147724G>T | CA454608691 | GCK | c.*787C>A (n.*787C>A) c.789C>A (p.Ser263=) c.792C>A (p.Ser264=) c.786C>A (p.Ser262=) c.738C>A (p.Ser246=) n.58G>T | dbSNP gnomAD v2 |
| 7 | g.44147725del | CA2695203091 | GCK | c.*787del (n.*787del) c.789del (p.Gly264AlafsTer23) c.792del (p.Gly265AlafsTer?) c.789del (p.Gly264AlafsTer?) c.786del (p.Gly263AlafsTer?) c.738del (p.Gly247AlafsTer?) n.59del | |
| 7 | g.44147724_44147728del | CA2682588955 | GCK | c.*783_*787del (n.*783_*787del) c.785_789del (p.Asp262GlyfsTer11) c.788_792del (p.Asp263GlyfsTer11) c.782_786del (p.Asp261GlyfsTer11) c.734_738del (p.Asp245GlyfsTer11) n.58_62del | gnomAD v4 |
| 7 | g.44147725G>A | CA367400555 | GCK | c.*786C>T (n.*786C>T) c.788C>T (p.Ser263Phe) c.791C>T (p.Ser264Phe) c.785C>T (p.Ser262Phe) c.737C>T (p.Ser246Phe) n.59G>A | COSMIC COSMIC COSMIC |
| 7 | g.44147725G>C | CA367400556 | GCK | c.*786C>G (n.*786C>G) c.788C>G (p.Ser263Cys) c.791C>G (p.Ser264Cys) c.785C>G (p.Ser262Cys) c.737C>G (p.Ser246Cys) n.59G>C | |
| 7 | g.44147725G>T | CA367400557 | GCK | c.*786C>A (n.*786C>A) c.788C>A (p.Ser263Tyr) c.791C>A (p.Ser264Tyr) c.785C>A (p.Ser262Tyr) c.737C>A (p.Ser246Tyr) n.59G>T | gnomAD v4 |
| 7 | g.44147726A= | CA1703634906 | GCK | c.*785T= (n.*785T=) c.787T= (p.Ser263=) c.790T= (p.Ser264=) c.784T= (p.Ser262=) c.736T= (p.Ser246=) n.60A= | |
| 7 | g.44147726A>C | CA367400559 | GCK | c.*785T>G (n.*785T>G) c.787T>G (p.Ser263Ala) c.790T>G (p.Ser264Ala) c.784T>G (p.Ser262Ala) c.736T>G (p.Ser246Ala) n.60A>C | |
| 7 | g.44147726A>G | CA152961 | GCK | c.*785T>C (n.*785T>C) c.787T>C (p.Ser263Pro) c.790T>C (p.Ser264Pro) c.784T>C (p.Ser262Pro) c.736T>C (p.Ser246Pro) n.60A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147726A>T | CA367400558 | GCK | c.*785T>A (n.*785T>A) c.787T>A (p.Ser263Thr) c.790T>A (p.Ser264Thr) c.784T>A (p.Ser262Thr) c.736T>A (p.Ser246Thr) n.60A>T | |
| 7 | g.44147727del | CA2740097355 | GCK | c.*784del (n.*784del) c.786del (p.Ser263ProfsTer24) c.789del (p.Ser264ProfsTer?) c.786del (p.Ser263ProfsTer?) c.783del (p.Ser262ProfsTer?) c.735del (p.Ser246ProfsTer?) n.61del | ClinVar |
| 7 | g.44147727G>A | CA454608697 | GCK | c.*784C>T (n.*784C>T) c.786C>T (p.Asp262=) c.789C>T (p.Asp263=) c.783C>T (p.Asp261=) c.735C>T (p.Asp245=) n.61G>A | |
| 7 | g.44147727G>C | CA367400560 | GCK | c.*784C>G (n.*784C>G) c.786C>G (p.Asp262Glu) c.789C>G (p.Asp263Glu) c.783C>G (p.Asp261Glu) c.735C>G (p.Asp245Glu) n.61G>C | |
| 7 | g.44147727G>T | CA367400561 | GCK | c.*784C>A (n.*784C>A) c.786C>A (p.Asp262Glu) c.789C>A (p.Asp263Glu) c.783C>A (p.Asp261Glu) c.735C>A (p.Asp245Glu) n.61G>T | |
| 7 | g.44147728del | CA2739265444 | GCK | c.*783del (n.*783del) c.785del (p.Asp262AlafsTer25) c.788del (p.Asp263AlafsTer?) c.785del (p.Asp262AlafsTer?) c.782del (p.Asp261AlafsTer?) c.734del (p.Asp245AlafsTer?) n.62del | ClinVar |
| 7 | g.44147728T>A | CA367400562 | GCK | c.*783A>T (n.*783A>T) c.785A>T (p.Asp262Val) c.788A>T (p.Asp263Val) c.782A>T (p.Asp261Val) c.734A>T (p.Asp245Val) n.62T>A | |
| 7 | g.44147728T>C | CA367400563 | GCK | c.*783A>G (n.*783A>G) c.785A>G (p.Asp262Gly) c.788A>G (p.Asp263Gly) c.782A>G (p.Asp261Gly) c.734A>G (p.Asp245Gly) n.62T>C | |
| 7 | g.44147728T>G | CA367400564 | GCK | c.*783A>C (n.*783A>C) c.785A>C (p.Asp262Ala) c.788A>C (p.Asp263Ala) c.782A>C (p.Asp261Ala) c.734A>C (p.Asp245Ala) n.62T>G | |
| 7 | g.44147728dup | CA2580077178 | GCK | c.*783dup (n.*783dup) c.785dup (p.Asp262GlufsTer13) c.788dup (p.Asp263GlufsTer13) c.782dup (p.Asp261GlufsTer13) c.734dup (p.Asp245GlufsTer13) n.62dup | ClinVar |
| 7 | g.44147729C>A | CA367400565 | GCK | c.*782G>T (n.*782G>T) c.784G>T (p.Asp262Tyr) c.787G>T (p.Asp263Tyr) c.781G>T (p.Asp261Tyr) c.733G>T (p.Asp245Tyr) n.63C>A | dbSNP |
| 7 | g.44147729C= | CA1703634907 | GCK | c.*782G= (n.*782G=) c.784G= (p.Asp262=) c.787G= (p.Asp263=) c.781G= (p.Asp261=) c.733G= (p.Asp245=) n.63C= | |
| 7 | g.44147729C>G | CA367400566 | GCK | c.*782G>C (n.*782G>C) c.784G>C (p.Asp262His) c.787G>C (p.Asp263His) c.781G>C (p.Asp261His) c.733G>C (p.Asp245His) n.63C>G | |
| 7 | g.44147729C>T | CA206279 | GCK | c.*782G>A (n.*782G>A) c.784G>A (p.Asp262Asn) c.787G>A (p.Asp263Asn) c.781G>A (p.Asp261Asn) c.733G>A (p.Asp245Asn) n.63C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147732del | CA2695203092 | GCK | c.*782del (n.*782del) c.784del (p.Asp262ThrfsTer25) c.787del (p.Asp263ThrfsTer?) c.784del (p.Asp262ThrfsTer?) c.781del (p.Asp261ThrfsTer?) c.733del (p.Asp245ThrfsTer?) n.66del | |
| 7 | g.44147730C>A | CA454608701 | GCK | c.*781G>T (n.*781G>T) c.783G>T (p.Gly261=) c.786G>T (p.Gly262=) c.780G>T (p.Gly260=) c.732G>T (p.Gly244=) n.64C>A | |
| 7 | g.44147730C= | CA1703634908 | GCK | c.*781G= (n.*781G=) c.783G= (p.Gly261=) c.786G= (p.Gly262=) c.780G= (p.Gly260=) c.732G= (p.Gly244=) n.64C= | |
| 7 | g.44147730C>G | CA454608702 | GCK | c.*781G>C (n.*781G>C) c.783G>C (p.Gly261=) c.786G>C (p.Gly262=) c.780G>C (p.Gly260=) c.732G>C (p.Gly244=) n.64C>G | |
| 7 | g.44147730C>T | CA4239524 | GCK | c.*781G>A (n.*781G>A) c.783G>A (p.Gly261=) c.786G>A (p.Gly262=) c.780G>A (p.Gly260=) c.732G>A (p.Gly244=) n.64C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147731C>A | CA367400567 | GCK | c.*780G>T (n.*780G>T) c.782G>T (p.Gly261Val) c.785G>T (p.Gly262Val) c.779G>T (p.Gly260Val) c.731G>T (p.Gly244Val) n.65C>A | |
| 7 | g.44147731C>G | CA367400568 | GCK | c.*780G>C (n.*780G>C) c.782G>C (p.Gly261Ala) c.785G>C (p.Gly262Ala) c.779G>C (p.Gly260Ala) c.731G>C (p.Gly244Ala) n.65C>G | |
| 7 | g.44147731C>T | CA367400569 | GCK | c.*780G>A (n.*780G>A) c.782G>A (p.Gly261Glu) c.785G>A (p.Gly262Glu) c.779G>A (p.Gly260Glu) c.731G>A (p.Gly244Glu) n.65C>T | ClinVar |
| 7 | g.44147732C>A | CA367400570 | GCK | c.*779G>T (n.*779G>T) c.781G>T (p.Gly261Trp) c.784G>T (p.Gly262Trp) c.778G>T (p.Gly260Trp) c.730G>T (p.Gly244Trp) n.66C>A | |
| 7 | g.44147732C= | CA1703634909 | GCK | c.*779G= (n.*779G=) c.781G= (p.Gly261=) c.784G= (p.Gly262=) c.778G= (p.Gly260=) c.730G= (p.Gly244=) n.66C= | |
| 7 | g.44147732C>G | CA367400571 | GCK | c.*779G>C (n.*779G>C) c.781G>C (p.Gly261Arg) c.784G>C (p.Gly262Arg) c.778G>C (p.Gly260Arg) c.730G>C (p.Gly244Arg) n.66C>G | ClinVar dbSNP |
| 7 | g.44147732C>T | CA126211 | GCK | c.*779G>A (n.*779G>A) c.781G>A (p.Gly261Arg) c.784G>A (p.Gly262Arg) c.778G>A (p.Gly260Arg) c.730G>A (p.Gly244Arg) n.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147733G>A | CA157915683 | GCK | c.*778C>T (n.*778C>T) c.780C>T (p.Phe260=) c.783C>T (p.Phe261=) c.777C>T (p.Phe259=) c.729C>T (p.Phe243=) n.67G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44147733G>C | CA367400572 | GCK | c.*778C>G (n.*778C>G) c.780C>G (p.Phe260Leu) c.783C>G (p.Phe261Leu) c.777C>G (p.Phe259Leu) c.729C>G (p.Phe243Leu) n.67G>C | |
| 7 | g.44147733G= | CA1703634910 | GCK | c.*778C= (n.*778C=) c.780C= (p.Phe260=) c.783C= (p.Phe261=) c.777C= (p.Phe259=) c.729C= (p.Phe243=) n.67G= | |
| 7 | g.44147733G>T | CA367400573 | GCK | c.*778C>A (n.*778C>A) c.780C>A (p.Phe260Leu) c.783C>A (p.Phe261Leu) c.777C>A (p.Phe259Leu) c.729C>A (p.Phe243Leu) n.67G>T | |
| 7 | g.44147734A= | CA1703634911 | GCK | c.*777T= (n.*777T=) c.779T= (p.Phe260=) c.782T= (p.Phe261=) c.776T= (p.Phe259=) c.728T= (p.Phe243=) n.68A= | |
| 7 | g.44147734A>C | CA367400574 | GCK | c.*777T>G (n.*777T>G) c.779T>G (p.Phe260Cys) c.782T>G (p.Phe261Cys) c.776T>G (p.Phe259Cys) c.728T>G (p.Phe243Cys) n.68A>C | |
| 7 | g.44147734A>G | CA213852 | GCK | c.*777T>C (n.*777T>C) c.779T>C (p.Phe260Ser) c.782T>C (p.Phe261Ser) c.776T>C (p.Phe259Ser) c.728T>C (p.Phe243Ser) n.68A>G | ClinVar dbSNP |
| 7 | g.44147734A>T | CA367400575 | GCK | c.*777T>A (n.*777T>A) c.779T>A (p.Phe260Tyr) c.782T>A (p.Phe261Tyr) c.776T>A (p.Phe259Tyr) c.728T>A (p.Phe243Tyr) n.68A>T | |
| 7 | g.44147735del | CA2695203093 | GCK | c.*777del (n.*777del) c.779del (p.Phe260SerfsTer27) c.782del (p.Phe261SerfsTer?) c.779del (p.Phe260SerfsTer?) c.776del (p.Phe259SerfsTer?) c.728del (p.Phe243SerfsTer?) n.69del | |
| 7 | g.44147735_44147751dup | CA658655966 | GCK | c.*761_*777dup (n.*761_*777dup) c.763_779dup (p.Phe260LeufsTer33) c.766_782dup (p.Phe261LeufsTer?) c.763_779dup (p.Phe260LeufsTer?) c.760_776dup (p.Phe259LeufsTer?) c.712_728dup (p.Phe243LeufsTer?) n.69_82+3dup | ClinVar dbSNP |
| 7 | g.44147735A>C | CA367400576 | GCK | c.*776T>G (n.*776T>G) c.778T>G (p.Phe260Val) c.781T>G (p.Phe261Val) c.775T>G (p.Phe259Val) c.727T>G (p.Phe243Val) n.69A>C | |
| 7 | g.44147735A>G | CA367400578 | GCK | c.*776T>C (n.*776T>C) c.778T>C (p.Phe260Leu) c.781T>C (p.Phe261Leu) c.775T>C (p.Phe259Leu) c.727T>C (p.Phe243Leu) n.69A>G | |
| 7 | g.44147735A>T | CA367400577 | GCK | c.*776T>A (n.*776T>A) c.778T>A (p.Phe260Ile) c.781T>A (p.Phe261Ile) c.775T>A (p.Phe259Ile) c.727T>A (p.Phe243Ile) n.69A>T | |
| 7 | g.44147736G>A | CA454608706 | GCK | c.*775C>T (n.*775C>T) c.777C>T (p.Ala259=) c.780C>T (p.Ala260=) c.774C>T (p.Ala258=) c.726C>T (p.Ala242=) n.70G>A | |
| 7 | g.44147736G>C | CA454608708 | GCK | c.*775C>G (n.*775C>G) c.777C>G (p.Ala259=) c.780C>G (p.Ala260=) c.774C>G (p.Ala258=) c.726C>G (p.Ala242=) n.70G>C | |
| 7 | g.44147736G>T | CA454608707 | GCK | c.*775C>A (n.*775C>A) c.777C>A (p.Ala259=) c.780C>A (p.Ala260=) c.774C>A (p.Ala258=) c.726C>A (p.Ala242=) n.70G>T | |
| 7 | g.44147737_44147739del | CA2695203094 | GCK | c.*773_*775del (n.*773_*775del) c.775_777del (p.Ala259del) c.778_780del (p.Ala260del) c.772_774del (p.Ala258del) c.724_726del (p.Ala242del) n.71_73del | |
| 7 | g.44147737G>A | CA367400579 | GCK | c.*774C>T (n.*774C>T) c.776C>T (p.Ala259Val) c.779C>T (p.Ala260Val) c.773C>T (p.Ala258Val) c.725C>T (p.Ala242Val) n.71G>A | ClinVar dbSNP |
| 7 | g.44147737G>C | CA367400581 | GCK | c.*774C>G (n.*774C>G) c.776C>G (p.Ala259Gly) c.779C>G (p.Ala260Gly) c.773C>G (p.Ala258Gly) c.725C>G (p.Ala242Gly) n.71G>C | gnomAD v4 |
| 7 | g.44147737G= | CA1703634912 | GCK | c.*774C= (n.*774C=) c.776C= (p.Ala259=) c.779C= (p.Ala260=) c.773C= (p.Ala258=) c.725C= (p.Ala242=) n.71G= | |
| 7 | g.44147737G>T | CA367400580 | GCK | c.*774C>A (n.*774C>A) c.776C>A (p.Ala259Asp) c.779C>A (p.Ala260Asp) c.773C>A (p.Ala258Asp) c.725C>A (p.Ala242Asp) n.71G>T | ClinVar dbSNP |
| 7 | g.44147738C>A | CA367400582 | GCK | c.*773G>T (n.*773G>T) c.775G>T (p.Ala259Ser) c.778G>T (p.Ala260Ser) c.772G>T (p.Ala258Ser) c.724G>T (p.Ala242Ser) n.72C>A | ClinVar |
| 7 | g.44147738C= | CA1703634913 | GCK | c.*773G= (n.*773G=) c.775G= (p.Ala259=) c.778G= (p.Ala260=) c.772G= (p.Ala258=) c.724G= (p.Ala242=) n.72C= | |
| 7 | g.44147738C>G | CA367400583 | GCK | c.*773G>C (n.*773G>C) c.775G>C (p.Ala259Pro) c.778G>C (p.Ala260Pro) c.772G>C (p.Ala258Pro) c.724G>C (p.Ala242Pro) n.72C>G | |
| 7 | g.44147738C>T | CA367400584 | GCK | c.*773G>A (n.*773G>A) c.775G>A (p.Ala259Thr) c.778G>A (p.Ala260Thr) c.772G>A (p.Ala258Thr) c.724G>A (p.Ala242Thr) n.72C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44147739G>A | CA4239525 | GCK | c.*772C>T (n.*772C>T) c.774C>T (p.Gly258=) c.777C>T (p.Gly259=) c.771C>T (p.Gly257=) c.723C>T (p.Gly241=) n.73G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147739G>C | CA454608716 | GCK | c.*772C>G (n.*772C>G) c.774C>G (p.Gly258=) c.777C>G (p.Gly259=) c.771C>G (p.Gly257=) c.723C>G (p.Gly241=) n.73G>C | |
| 7 | g.44147739G= | CA1703634914 | GCK | c.*772C= (n.*772C=) c.774C= (p.Gly258=) c.777C= (p.Gly259=) c.771C= (p.Gly257=) c.723C= (p.Gly241=) n.73G= | |
| 7 | g.44147739G>T | CA454608717 | GCK | c.*772C>A (n.*772C>A) c.774C>A (p.Gly258=) c.777C>A (p.Gly259=) c.771C>A (p.Gly257=) c.723C>A (p.Gly241=) n.73G>T | |
| 7 | g.44147740C>A | CA367400585 | GCK | c.*771G>T (n.*771G>T) c.773G>T (p.Gly258Val) c.776G>T (p.Gly259Val) c.770G>T (p.Gly257Val) c.722G>T (p.Gly241Val) n.74C>A | |
| 7 | g.44147740C= | CA1703634915 | GCK | c.*771G= (n.*771G=) c.773G= (p.Gly258=) c.776G= (p.Gly259=) c.770G= (p.Gly257=) c.722G= (p.Gly241=) n.74C= | |
| 7 | g.44147740C>G | CA367400586 | GCK | c.*771G>C (n.*771G>C) c.773G>C (p.Gly258Ala) c.776G>C (p.Gly259Ala) c.770G>C (p.Gly257Ala) c.722G>C (p.Gly241Ala) n.74C>G | |
| 7 | g.44147740C>T | CA4239526 | GCK | c.*771G>A (n.*771G>A) c.773G>A (p.Gly258Asp) c.776G>A (p.Gly259Asp) c.770G>A (p.Gly257Asp) c.722G>A (p.Gly241Asp) n.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44147743dup | CA2695203097 | GCK | c.*771dup (n.*771dup) c.773dup (p.Ala259ArgfsTer16) c.776dup (p.Ala260ArgfsTer16) c.770dup (p.Ala258ArgfsTer16) c.722dup (p.Ala242ArgfsTer16) n.77dup | |
| 7 | g.44147741C>A | CA367400587 | GCK | c.*770G>T (n.*770G>T) c.772G>T (p.Gly258Cys) c.775G>T (p.Gly259Cys) c.769G>T (p.Gly257Cys) c.721G>T (p.Gly241Cys) n.75C>A | ClinVar dbSNP |
| 7 | g.44147741C= | CA1703634916 | GCK | c.*770G= (n.*770G=) c.772G= (p.Gly258=) c.775G= (p.Gly259=) c.769G= (p.Gly257=) c.721G= (p.Gly241=) n.75C= | |
| 7 | g.44147741C>G | CA367400588 | GCK | c.*770G>C (n.*770G>C) c.772G>C (p.Gly258Arg) c.775G>C (p.Gly259Arg) c.769G>C (p.Gly257Arg) c.721G>C (p.Gly241Arg) n.75C>G | |
| 7 | g.44147741C>T | CA367400589 | GCK | c.*770G>A (n.*770G>A) c.772G>A (p.Gly258Ser) c.775G>A (p.Gly259Ser) c.769G>A (p.Gly257Ser) c.721G>A (p.Gly241Ser) n.75C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44147742C>A | CA367400592 | GCK | c.*769G>T (n.*769G>T) c.771G>T (p.Trp257Cys) c.774G>T (p.Trp258Cys) c.768G>T (p.Trp256Cys) c.720G>T (p.Trp240Cys) n.76C>A | |
| 7 | g.44147742C>G | CA367400591 | GCK | c.*769G>C (n.*769G>C) c.771G>C (p.Trp257Cys) c.774G>C (p.Trp258Cys) c.768G>C (p.Trp256Cys) c.720G>C (p.Trp240Cys) n.76C>G | |
| 7 | g.44147742C>T | CA367400590 | GCK | c.*769G>A (n.*769G>A) c.771G>A (p.Trp257Ter) c.774G>A (p.Trp258Ter) c.768G>A (p.Trp256Ter) c.720G>A (p.Trp240Ter) n.76C>T | ClinVar dbSNP |
| 7 | g.44147743C>A | CA367400593 | GCK | c.*768G>T (n.*768G>T) c.770G>T (p.Trp257Leu) c.773G>T (p.Trp258Leu) c.767G>T (p.Trp256Leu) c.719G>T (p.Trp240Leu) n.77C>A | |
| 7 | g.44147743C= | CA1703634917 | GCK | c.*768G= (n.*768G=) c.770G= (p.Trp257=) c.773G= (p.Trp258=) c.767G= (p.Trp256=) c.719G= (p.Trp240=) n.77C= | |
| 7 | g.44147743C>G | CA367400594 | GCK | c.*768G>C (n.*768G>C) c.770G>C (p.Trp257Ser) c.773G>C (p.Trp258Ser) c.767G>C (p.Trp256Ser) c.719G>C (p.Trp240Ser) n.77C>G | ClinVar dbSNP |
| 7 | g.44147743C>T | CA367400595 | GCK | c.*768G>A (n.*768G>A) c.770G>A (p.Trp257Ter) c.773G>A (p.Trp258Ter) c.767G>A (p.Trp256Ter) c.719G>A (p.Trp240Ter) n.77C>T | ClinVar dbSNP |
| 7 | g.44147746_44147760del | CA2695203100 | GCK | c.*754_*768del (n.*754_*768del) c.756_770del (p.Cys252_Glu256del) c.759_773del (p.Cys253_Glu257del) c.753_767del (p.Cys251_Glu255del) c.705_719del (p.Cys235_Glu239del) n.80_82+12del | |
| 7 | g.44147744A= | CA1703634918 | GCK | c.*767T= (n.*767T=) c.769T= (p.Trp257=) c.772T= (p.Trp258=) c.766T= (p.Trp256=) c.718T= (p.Trp240=) n.78A= | |
| 7 | g.44147744A>C | CA367400596 | GCK | c.*767T>G (n.*767T>G) c.769T>G (p.Trp257Gly) c.772T>G (p.Trp258Gly) c.766T>G (p.Trp256Gly) c.718T>G (p.Trp240Gly) n.78A>C | |
| 7 | g.44147744A>G | CA367400597 | GCK | c.*767T>C (n.*767T>C) c.769T>C (p.Trp257Arg) c.772T>C (p.Trp258Arg) c.766T>C (p.Trp256Arg) c.718T>C (p.Trp240Arg) n.78A>G | ClinVar dbSNP |
| 7 | g.44147744A>T | CA367400598 | GCK | c.*767T>A (n.*767T>A) c.769T>A (p.Trp257Arg) c.772T>A (p.Trp258Arg) c.766T>A (p.Trp256Arg) c.718T>A (p.Trp240Arg) n.78A>T | |
| 7 | g.44147744dup | CA2695203102 | GCK | c.*767dup (n.*767dup) c.769dup (p.Trp257LeufsTer18) c.772dup (p.Trp258LeufsTer18) c.766dup (p.Trp256LeufsTer18) c.718dup (p.Trp240LeufsTer18) n.78dup | |
| 7 | g.44147745C>A | CA367400599 | GCK | c.*766G>T (n.*766G>T) c.768G>T (p.Glu256Asp) c.771G>T (p.Glu257Asp) c.765G>T (p.Glu255Asp) c.717G>T (p.Glu239Asp) n.79C>A | |
| 7 | g.44147745C= | CA1703634919 | GCK | c.*766G= (n.*766G=) c.768G= (p.Glu256=) c.771G= (p.Glu257=) c.765G= (p.Glu255=) c.717G= (p.Glu239=) n.79C= | |
| 7 | g.44147745C>G | CA213848 | GCK | c.*766G>C (n.*766G>C) c.768G>C (p.Glu256Asp) c.771G>C (p.Glu257Asp) c.765G>C (p.Glu255Asp) c.717G>C (p.Glu239Asp) n.79C>G | ClinVar dbSNP |
| 7 | g.44147745C>T | CA454608718 | GCK | c.*766G>A (n.*766G>A) c.768G>A (p.Glu256=) c.771G>A (p.Glu257=) c.765G>A (p.Glu255=) c.717G>A (p.Glu239=) n.79C>T |