| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153378_44153383del | CA2695203022 | GCK | c.*126_*131del (n.*126_*131del) c.128_133del (p.Arg43_Gly44del) n.614_619del c.131_136del (p.Arg44_Gly45del) c.125_130del (p.Arg42_Gly43del) | |
| 7 | g.44153378C>A | CA367403442 | GCK | c.*129G>T (n.*129G>T) c.131G>T (p.Gly44Val) n.617G>T c.134G>T (p.Gly45Val) c.128G>T (p.Gly43Val) | |
| 7 | g.44153378C= | CA1703637547 | GCK | c.*129G= (n.*129G=) c.131G= (p.Gly44=) n.617G= c.134G= (p.Gly45=) c.128G= (p.Gly43=) | |
| 7 | g.44153378C>G | CA367403441 | GCK | c.*129G>C (n.*129G>C) c.131G>C (p.Gly44Ala) n.617G>C c.134G>C (p.Gly45Ala) c.128G>C (p.Gly43Ala) | |
| 7 | g.44153378C>T | CA213753 | GCK | c.*129G>A (n.*129G>A) c.131G>A (p.Gly44Asp) n.617G>A c.134G>A (p.Gly45Asp) c.128G>A (p.Gly43Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153379del | CA2695203023 | GCK | c.*129del (n.*129del) c.131del (p.Gly44AlafsTer2) n.617del c.134del (p.Gly45AlafsTer2) c.128del (p.Gly43AlafsTer2) | |
| 7 | g.44153381_44153403del | CA2695203024 | GCK | c.*107_*129del (n.*107_*129del) c.109_131del (p.Met37ProfsTer7) n.595_617del c.112_134del (p.Met38ProfsTer7) c.106_128del (p.Met36ProfsTer7) | |
| 7 | g.44153379C>A | CA367403443 | GCK | c.*128G>T (n.*128G>T) c.130G>T (p.Gly44Cys) n.616G>T c.133G>T (p.Gly45Cys) c.127G>T (p.Gly43Cys) | ClinVar gnomAD v4 |
| 7 | g.44153379C= | CA1703637548 | GCK | c.*128G= (n.*128G=) c.130G= (p.Gly44=) n.616G= c.133G= (p.Gly45=) c.127G= (p.Gly43=) | |
| 7 | g.44153379C>G | CA367403444 | GCK | c.*128G>C (n.*128G>C) c.130G>C (p.Gly44Arg) n.616G>C c.133G>C (p.Gly45Arg) c.127G>C (p.Gly43Arg) | |
| 7 | g.44153379C>T | CA157920006 | GCK | c.*128G>A (n.*128G>A) c.130G>A (p.Gly44Ser) n.616G>A c.133G>A (p.Gly45Ser) c.127G>A (p.Gly43Ser) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153380G>A | CA4239717 | GCK | c.*127C>T (n.*127C>T) c.129C>T (p.Arg43=) n.615C>T c.132C>T (p.Arg44=) c.126C>T (p.Arg42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153380G>C | CA454610599 | GCK | c.*127C>G (n.*127C>G) c.129C>G (p.Arg43=) n.615C>G c.132C>G (p.Arg44=) c.126C>G (p.Arg42=) | |
| 7 | g.44153380G= | CA1703637549 | GCK | c.*127C= (n.*127C=) c.129C= (p.Arg43=) n.615C= c.132C= (p.Arg44=) c.126C= (p.Arg42=) | |
| 7 | g.44153380G>T | CA454610600 | GCK | c.*127C>A (n.*127C>A) c.129C>A (p.Arg43=) n.615C>A c.132C>A (p.Arg44=) c.126C>A (p.Arg42=) | |
| 7 | g.44153381C>A | CA367403447 | GCK | c.*126G>T (n.*126G>T) c.128G>T (p.Arg43Leu) n.614G>T c.131G>T (p.Arg44Leu) c.125G>T (p.Arg42Leu) | |
| 7 | g.44153381C= | CA1703637550 | GCK | c.*126G= (n.*126G=) c.128G= (p.Arg43=) n.614G= c.131G= (p.Arg44=) c.125G= (p.Arg42=) | |
| 7 | g.44153381C>G | CA367403448 | GCK | c.*126G>C (n.*126G>C) c.128G>C (p.Arg43Pro) n.614G>C c.131G>C (p.Arg44Pro) c.125G>C (p.Arg42Pro) | ClinVar dbSNP |
| 7 | g.44153381C>T | CA4239718 | GCK | c.*126G>A (n.*126G>A) c.128G>A (p.Arg43His) n.614G>A c.131G>A (p.Arg44His) c.125G>A (p.Arg42His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153382G>A | CA367403451 | GCK | c.*125C>T (n.*125C>T) c.127C>T (p.Arg43Cys) n.613C>T c.130C>T (p.Arg44Cys) c.124C>T (p.Arg42Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.44153382G>C | CA367403452 | GCK | c.*125C>G (n.*125C>G) c.127C>G (p.Arg43Gly) n.613C>G c.130C>G (p.Arg44Gly) c.124C>G (p.Arg42Gly) | |
| 7 | g.44153382G= | CA1703637551 | GCK | c.*125C= (n.*125C=) c.127C= (p.Arg43=) n.613C= c.130C= (p.Arg44=) c.124C= (p.Arg42=) | |
| 7 | g.44153382G>T | CA367403453 | GCK | c.*125C>A (n.*125C>A) c.127C>A (p.Arg43Ser) n.613C>A c.130C>A (p.Arg44Ser) c.124C>A (p.Arg42Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153383dup | CA2695203025 | GCK | c.*125dup (n.*125dup) c.127dup (p.Arg43ProfsTer9) n.613dup c.130dup (p.Arg44ProfsTer9) c.124dup (p.Arg42ProfsTer9) | |
| 7 | g.44153383G>A | CA454610604 | GCK | c.*124C>T (n.*124C>T) c.126C>T (p.Asp42=) n.612C>T c.129C>T (p.Asp43=) c.123C>T (p.Asp41=) | |
| 7 | g.44153383G>C | CA367403454 | GCK | c.*124C>G (n.*124C>G) c.126C>G (p.Asp42Glu) n.612C>G c.129C>G (p.Asp43Glu) c.123C>G (p.Asp41Glu) | |
| 7 | g.44153383G>T | CA367403456 | GCK | c.*124C>A (n.*124C>A) c.126C>A (p.Asp42Glu) n.612C>A c.129C>A (p.Asp43Glu) c.123C>A (p.Asp41Glu) | |
| 7 | g.44153384T>A | CA367403459 | GCK | c.*123A>T (n.*123A>T) c.125A>T (p.Asp42Val) n.611A>T c.128A>T (p.Asp43Val) c.122A>T (p.Asp41Val) | |
| 7 | g.44153384T>C | CA157920043 | GCK | c.*123A>G (n.*123A>G) c.125A>G (p.Asp42Gly) n.611A>G c.128A>G (p.Asp43Gly) c.122A>G (p.Asp41Gly) | dbSNP |
| 7 | g.44153384T>G | CA367403458 | GCK | c.*123A>C (n.*123A>C) c.125A>C (p.Asp42Ala) n.611A>C c.128A>C (p.Asp43Ala) c.122A>C (p.Asp41Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153384T= | CA1703637552 | GCK | c.*123A= (n.*123A=) c.125A= (p.Asp42=) n.611A= c.128A= (p.Asp43=) c.122A= (p.Asp41=) | |
| 7 | g.44153385C>A | CA367403460 | GCK | c.*122G>T (n.*122G>T) c.124G>T (p.Asp42Tyr) n.610G>T c.127G>T (p.Asp43Tyr) c.121G>T (p.Asp41Tyr) | |
| 7 | g.44153385C= | CA1703637553 | GCK | c.*122G= (n.*122G=) c.124G= (p.Asp42=) n.610G= c.127G= (p.Asp43=) c.121G= (p.Asp41=) | |
| 7 | g.44153385C>G | CA367403461 | GCK | c.*122G>C (n.*122G>C) c.124G>C (p.Asp42His) n.610G>C c.127G>C (p.Asp43His) c.121G>C (p.Asp41His) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153385C>T | CA367403462 | GCK | c.*122G>A (n.*122G>A) c.124G>A (p.Asp42Asn) n.610G>A c.127G>A (p.Asp43Asn) c.121G>A (p.Asp41Asn) | |
| 7 | g.44153386C>A | CA367403464 | GCK | c.*121G>T (n.*121G>T) c.123G>T (p.Met41Ile) n.609G>T c.126G>T (p.Met42Ile) c.120G>T (p.Met40Ile) | |
| 7 | g.44153386C>G | CA367403465 | GCK | c.*121G>C (n.*121G>C) c.123G>C (p.Met41Ile) n.609G>C c.126G>C (p.Met42Ile) c.120G>C (p.Met40Ile) | |
| 7 | g.44153386C>T | CA367403466 | GCK | c.*121G>A (n.*121G>A) c.123G>A (p.Met41Ile) n.609G>A c.126G>A (p.Met42Ile) c.120G>A (p.Met40Ile) | |
| 7 | g.44153386_44153393dup | CA913187396 | GCK | c.*114_*121dup (n.*114_*121dup) c.116_123dup (p.Asp42ArgfsTer7) n.602_609dup c.119_126dup (p.Asp43ArgfsTer7) c.113_120dup (p.Asp41ArgfsTer7) | |
| 7 | g.44153386_44153387insCATCTCCT | CA2580077173 | GCK | c.*120_*121insAGGAGATG (n.*120_*121insAGGAGATG) c.122_123insAGGAGATG (p.Met41IlefsTer8) n.608_609insAGGAGATG c.125_126insAGGAGATG (p.Met42IlefsTer8) c.119_120insAGGAGATG (p.Met40IlefsTer8) | ClinVar |
| 7 | g.44153387A= | CA1703637554 | GCK | c.*120T= (n.*120T=) c.122T= (p.Met41=) n.608T= c.125T= (p.Met42=) c.119T= (p.Met40=) | |
| 7 | g.44153387A>C | CA367403469 | GCK | c.*120T>G (n.*120T>G) c.122T>G (p.Met41Arg) n.608T>G c.125T>G (p.Met42Arg) c.119T>G (p.Met40Arg) | ClinVar |
| 7 | g.44153387A>G | CA16609270 | GCK | c.*120T>C (n.*120T>C) c.122T>C (p.Met41Thr) n.608T>C c.125T>C (p.Met42Thr) c.119T>C (p.Met40Thr) | ClinVar dbSNP |
| 7 | g.44153387A>T | CA367403468 | GCK | c.*120T>A (n.*120T>A) c.122T>A (p.Met41Lys) n.608T>A c.125T>A (p.Met42Lys) c.119T>A (p.Met40Lys) | |
| 7 | g.44153388T>A | CA367403471 | GCK | c.*119A>T (n.*119A>T) c.121A>T (p.Met41Leu) n.607A>T c.124A>T (p.Met42Leu) c.118A>T (p.Met40Leu) | |
| 7 | g.44153388T>C | CA367403472 | GCK | c.*119A>G (n.*119A>G) c.121A>G (p.Met41Val) n.607A>G c.124A>G (p.Met42Val) c.118A>G (p.Met40Val) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153388T>G | CA367403473 | GCK | c.*119A>C (n.*119A>C) c.121A>C (p.Met41Leu) n.607A>C c.124A>C (p.Met42Leu) c.118A>C (p.Met40Leu) | |
| 7 | g.44153388T= | CA1703637555 | GCK | c.*119A= (n.*119A=) c.121A= (p.Met41=) n.607A= c.124A= (p.Met42=) c.118A= (p.Met40=) | |
| 7 | g.44153389C>A | CA367403475 | GCK | c.*118G>T (n.*118G>T) c.120G>T (p.Glu40Asp) n.606G>T c.123G>T (p.Glu41Asp) c.117G>T (p.Glu39Asp) | |
| 7 | g.44153389C= | CA1703637556 | GCK | c.*118G= (n.*118G=) c.120G= (p.Glu40=) n.606G= c.123G= (p.Glu41=) c.117G= (p.Glu39=) |