Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.44153363dup | CA10603051 | GCK | c.*146dup (n.*146dup) c.148dup (p.His50ProfsTer2) n.634dup c.151dup (p.His51ProfsTer2) c.145dup (p.His49ProfsTer2) | ClinVar dbSNP |
7 | g.44153363del | CA2499218897 | GCK | c.*146del (n.*146del) c.148del (p.His50MetfsTer6) n.634del c.151del (p.His51MetfsTer6) c.145del (p.His49MetfsTer6) | ClinVar dbSNP |
7 | g.44153363G>A | CA367403399 | GCK | c.*144C>T (n.*144C>T) c.146C>T (p.Thr49Ile) n.632C>T c.149C>T (p.Thr50Ile) c.143C>T (p.Thr48Ile) | ClinVar dbSNP |
7 | g.44153363G>C | CA367403400 | GCK | c.*144C>G (n.*144C>G) c.146C>G (p.Thr49Ser) n.632C>G c.149C>G (p.Thr50Ser) c.143C>G (p.Thr48Ser) | ClinVar |
7 | g.44153363G= | CA1703637540 | GCK | c.*144C= (n.*144C=) c.146C= (p.Thr49=) n.632C= c.149C= (p.Thr50=) c.143C= (p.Thr48=) | |
7 | g.44153363G>T | CA213765 | GCK | c.*144C>A (n.*144C>A) c.146C>A (p.Thr49Asn) n.632C>A c.149C>A (p.Thr50Asn) c.143C>A (p.Thr48Asn) | ClinVar dbSNP |
7 | g.44153364T>A | CA367403406 | GCK | c.*143A>T (n.*143A>T) c.145A>T (p.Thr49Ser) n.631A>T c.148A>T (p.Thr50Ser) c.142A>T (p.Thr48Ser) | |
7 | g.44153364T>C | CA367403404 | GCK | c.*143A>G (n.*143A>G) c.145A>G (p.Thr49Ala) n.631A>G c.148A>G (p.Thr50Ala) c.142A>G (p.Thr48Ala) | |
7 | g.44153364T>G | CA367403403 | GCK | c.*143A>C (n.*143A>C) c.145A>C (p.Thr49Pro) n.631A>C c.148A>C (p.Thr50Pro) c.142A>C (p.Thr48Pro) | |
7 | g.44153365C>A | CA367403407 | GCK | c.*142G>T (n.*142G>T) c.144G>T (p.Glu48Asp) n.630G>T c.147G>T (p.Glu49Asp) c.141G>T (p.Glu47Asp) | |
7 | g.44153365C>G | CA367403409 | GCK | c.*142G>C (n.*142G>C) c.144G>C (p.Glu48Asp) n.630G>C c.147G>C (p.Glu49Asp) c.141G>C (p.Glu47Asp) | gnomAD v4 |
7 | g.44153365C>T | CA454610572 | GCK | c.*142G>A (n.*142G>A) c.144G>A (p.Glu48=) n.630G>A c.147G>A (p.Glu49=) c.141G>A (p.Glu47=) | COSMIC COSMIC COSMIC |
7 | g.44153366T>A | CA367403410 | GCK | c.*141A>T (n.*141A>T) c.143A>T (p.Glu48Val) n.629A>T c.146A>T (p.Glu49Val) c.140A>T (p.Glu47Val) | |
7 | g.44153366T>C | CA367403412 | GCK | c.*141A>G (n.*141A>G) c.143A>G (p.Glu48Gly) n.629A>G c.146A>G (p.Glu49Gly) c.140A>G (p.Glu47Gly) | |
7 | g.44153366T>G | CA367403413 | GCK | c.*141A>C (n.*141A>C) c.143A>C (p.Glu48Ala) n.629A>C c.146A>C (p.Glu49Ala) c.140A>C (p.Glu47Ala) | |
7 | g.44153367C>A | CA367403414 | GCK | c.*140G>T (n.*140G>T) c.142G>T (p.Glu48Ter) n.628G>T c.145G>T (p.Glu49Ter) c.139G>T (p.Glu47Ter) | |
7 | g.44153367C= | CA1703637541 | GCK | c.*140G= (n.*140G=) c.142G= (p.Glu48=) n.628G= c.145G= (p.Glu49=) c.139G= (p.Glu47=) | |
7 | g.44153367C>G | CA367403415 | GCK | c.*140G>C (n.*140G>C) c.142G>C (p.Glu48Gln) n.628G>C c.145G>C (p.Glu49Gln) c.139G>C (p.Glu47Gln) | |
7 | g.44153367C>T | CA4239714 | GCK | c.*140G>A (n.*140G>A) c.142G>A (p.Glu48Lys) n.628G>A c.145G>A (p.Glu49Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.44153368C>A | CA454610573 | GCK | c.*139G>T (n.*139G>T) c.141G>T (p.Leu47=) n.627G>T c.144G>T (p.Leu48=) c.138G>T (p.Leu46=) | |
7 | g.44153368C= | CA1703637542 | GCK | c.*139G= (n.*139G=) c.141G= (p.Leu47=) n.627G= c.144G= (p.Leu48=) c.138G= (p.Leu46=) | |
7 | g.44153368C>G | CA454610574 | GCK | c.*139G>C (n.*139G>C) c.141G>C (p.Leu47=) n.627G>C c.144G>C (p.Leu48=) c.138G>C (p.Leu46=) | |
7 | g.44153368C>T | CA157919987 | GCK | c.*139G>A (n.*139G>A) c.141G>A (p.Leu47=) n.627G>A c.144G>A (p.Leu48=) c.138G>A (p.Leu46=) | dbSNP |
7 | g.44153369A>C | CA367403416 | GCK | c.*138T>G (n.*138T>G) c.140T>G (p.Leu47Arg) n.626T>G c.143T>G (p.Leu48Arg) c.137T>G (p.Leu46Arg) | |
7 | g.44153369A>G | CA367403417 | GCK | c.*138T>C (n.*138T>C) c.140T>C (p.Leu47Pro) n.626T>C c.143T>C (p.Leu48Pro) c.137T>C (p.Leu46Pro) | |
7 | g.44153369A>T | CA367403419 | GCK | c.*138T>A (n.*138T>A) c.140T>A (p.Leu47Gln) n.626T>A c.143T>A (p.Leu48Gln) c.137T>A (p.Leu46Gln) | |
7 | g.44153369dup | CA2573142152 | GCK | c.*138dup (n.*138dup) c.140dup (p.Glu48GlyfsTer4) n.626dup c.143dup (p.Glu49GlyfsTer4) c.137dup (p.Glu47GlyfsTer4) | ClinVar dbSNP |
7 | g.44153370G>A | CA454610576 | GCK | c.*137C>T (n.*137C>T) c.139C>T (p.Leu47=) n.625C>T c.142C>T (p.Leu48=) c.136C>T (p.Leu46=) | |
7 | g.44153370G>C | CA367403422 | GCK | c.*137C>G (n.*137C>G) c.139C>G (p.Leu47Val) n.625C>G c.142C>G (p.Leu48Val) c.136C>G (p.Leu46Val) | |
7 | g.44153370G>T | CA367403420 | GCK | c.*137C>A (n.*137C>A) c.139C>A (p.Leu47Met) n.625C>A c.142C>A (p.Leu48Met) c.136C>A (p.Leu46Met) | |
7 | g.44153371C>A | CA367403423 | GCK | c.*136G>T (n.*136G>T) c.138G>T (p.Arg46Ser) n.624G>T c.141G>T (p.Arg47Ser) c.135G>T (p.Arg45Ser) | |
7 | g.44153371C= | CA1703637543 | GCK | c.*136G= (n.*136G=) c.138G= (p.Arg46=) n.624G= c.141G= (p.Arg47=) c.135G= (p.Arg45=) | |
7 | g.44153371C>G | CA367403425 | GCK | c.*136G>C (n.*136G>C) c.138G>C (p.Arg46Ser) n.624G>C c.141G>C (p.Arg47Ser) c.135G>C (p.Arg45Ser) | gnomAD v4 |
7 | g.44153371C>T | CA4239715 | GCK | c.*136G>A (n.*136G>A) c.138G>A (p.Arg46=) n.624G>A c.141G>A (p.Arg47=) c.135G>A (p.Arg45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.44153372C>A | CA16618474 | GCK | c.*135G>T (n.*135G>T) c.137G>T (p.Arg46Met) n.623G>T c.140G>T (p.Arg47Met) c.134G>T (p.Arg45Met) | ClinVar dbSNP gnomAD v4 |
7 | g.44153372C= | CA1703637544 | GCK | c.*135G= (n.*135G=) c.137G= (p.Arg46=) n.623G= c.140G= (p.Arg47=) c.134G= (p.Arg45=) | |
7 | g.44153372C>G | CA367403427 | GCK | c.*135G>C (n.*135G>C) c.137G>C (p.Arg46Thr) n.623G>C c.140G>C (p.Arg47Thr) c.134G>C (p.Arg45Thr) | |
7 | g.44153372C>T | CA367403428 | GCK | c.*135G>A (n.*135G>A) c.137G>A (p.Arg46Lys) n.623G>A c.140G>A (p.Arg47Lys) c.134G>A (p.Arg45Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.44153373T>A | CA367403430 | GCK | c.*134A>T (n.*134A>T) c.136A>T (p.Arg46Trp) n.622A>T c.139A>T (p.Arg47Trp) c.133A>T (p.Arg45Trp) | |
7 | g.44153373T>C | CA367403431 | GCK | c.*134A>G (n.*134A>G) c.136A>G (p.Arg46Gly) n.622A>G c.139A>G (p.Arg47Gly) c.133A>G (p.Arg45Gly) | |
7 | g.44153373T>G | CA454610581 | GCK | c.*134A>C (n.*134A>C) c.136A>C (p.Arg46=) n.622A>C c.139A>C (p.Arg47=) c.133A>C (p.Arg45=) | |
7 | g.44153374C>A | CA454610582 | GCK | c.*133G>T (n.*133G>T) c.135G>T (p.Leu45=) n.621G>T c.138G>T (p.Leu46=) c.132G>T (p.Leu44=) | |
7 | g.44153374C>G | CA454610583 | GCK | c.*133G>C (n.*133G>C) c.135G>C (p.Leu45=) n.621G>C c.138G>C (p.Leu46=) c.132G>C (p.Leu44=) | |
7 | g.44153374C>T | CA454610584 | GCK | c.*133G>A (n.*133G>A) c.135G>A (p.Leu45=) n.621G>A c.138G>A (p.Leu46=) c.132G>A (p.Leu44=) | COSMIC COSMIC COSMIC |
7 | g.44153375A= | CA1703637545 | GCK | c.*132T= (n.*132T=) c.134T= (p.Leu45=) n.620T= c.137T= (p.Leu46=) c.131T= (p.Leu44=) | |
7 | g.44153375A>C | CA367403435 | GCK | c.*132T>G (n.*132T>G) c.134T>G (p.Leu45Arg) n.620T>G c.137T>G (p.Leu46Arg) c.131T>G (p.Leu44Arg) | |
7 | g.44153375A>G | CA367403437 | GCK | c.*132T>C (n.*132T>C) c.134T>C (p.Leu45Pro) n.620T>C c.137T>C (p.Leu46Pro) c.131T>C (p.Leu44Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.44153375A>T | CA367403438 | GCK | c.*132T>A (n.*132T>A) c.134T>A (p.Leu45Gln) n.620T>A c.137T>A (p.Leu46Gln) c.131T>A (p.Leu44Gln) | COSMIC COSMIC COSMIC |
7 | g.44153376G>A | CA454610587 | GCK | c.*131C>T (n.*131C>T) c.133C>T (p.Leu45=) n.619C>T c.136C>T (p.Leu46=) c.130C>T (p.Leu44=) | |
7 | g.44153376G>C | CA367403439 | GCK | c.*131C>G (n.*131C>G) c.133C>G (p.Leu45Val) n.619C>G c.136C>G (p.Leu46Val) c.130C>G (p.Leu44Val) |