| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44153325C>A | CA367403282 | GCK | c.*182G>T (n.*182G>T) c.184G>T (p.Val62Leu) n.670G>T c.187G>T (p.Val63Leu) c.181G>T (p.Val61Leu) | |
| 7 | g.44153325C= | CA1703637521 | GCK | c.*182G= (n.*182G=) c.184G= (p.Val62=) n.670G= c.187G= (p.Val63=) c.181G= (p.Val61=) | |
| 7 | g.44153325C>G | CA367403284 | GCK | c.*182G>C (n.*182G>C) c.184G>C (p.Val62Leu) n.670G>C c.187G>C (p.Val63Leu) c.181G>C (p.Val61Leu) | |
| 7 | g.44153325C>T | CA16618472 | GCK | c.*182G>A (n.*182G>A) c.184G>A (p.Val62Met) n.670G>A c.187G>A (p.Val63Met) c.181G>A (p.Val61Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326G>A | CA4239708 | GCK | c.*181C>T (n.*181C>T) c.183C>T (p.Tyr61=) n.669C>T c.186C>T (p.Tyr62=) c.180C>T (p.Tyr60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153326G>C | CA367403286 | GCK | c.*181C>G (n.*181C>G) c.183C>G (p.Tyr61Ter) n.669C>G c.186C>G (p.Tyr62Ter) c.180C>G (p.Tyr60Ter) | |
| 7 | g.44153326G= | CA1703637522 | GCK | c.*181C= (n.*181C=) c.183C= (p.Tyr61=) n.669C= c.186C= (p.Tyr62=) c.180C= (p.Tyr60=) | |
| 7 | g.44153326G>T | CA367403288 | GCK | c.*181C>A (n.*181C>A) c.183C>A (p.Tyr61Ter) n.669C>A c.186C>A (p.Tyr62Ter) c.180C>A (p.Tyr60Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153326_44153328delinsTTG | CA2695203017 | GCK | c.*179_*181delinsCAA (n.*179_*181delinsCAA) c.181_183delinsCAA (p.Tyr61Gln) n.667_669delinsCAA c.184_186delinsCAA (p.Tyr62Gln) c.178_180delinsCAA (p.Tyr60Gln) | |
| 7 | g.44153327T>A | CA367403290 | GCK | c.*180A>T (n.*180A>T) c.182A>T (p.Tyr61Phe) n.668A>T c.185A>T (p.Tyr62Phe) c.179A>T (p.Tyr60Phe) | |
| 7 | g.44153327T>C | CA367403292 | GCK | c.*180A>G (n.*180A>G) c.182A>G (p.Tyr61Cys) n.668A>G c.185A>G (p.Tyr62Cys) c.179A>G (p.Tyr60Cys) | |
| 7 | g.44153327T>G | CA367403293 | GCK | c.*180A>C (n.*180A>C) c.182A>C (p.Tyr61Ser) n.668A>C c.185A>C (p.Tyr62Ser) c.179A>C (p.Tyr60Ser) | |
| 7 | g.44153328A>C | CA367403295 | GCK | c.*179T>G (n.*179T>G) c.181T>G (p.Tyr61Asp) n.667T>G c.184T>G (p.Tyr62Asp) c.178T>G (p.Tyr60Asp) | |
| 7 | g.44153328A>G | CA367403296 | GCK | c.*179T>C (n.*179T>C) c.181T>C (p.Tyr61His) n.667T>C c.184T>C (p.Tyr62His) c.178T>C (p.Tyr60His) | |
| 7 | g.44153328A>T | CA367403298 | GCK | c.*179T>A (n.*179T>A) c.181T>A (p.Tyr61Asn) n.667T>A c.184T>A (p.Tyr62Asn) c.178T>A (p.Tyr60Asn) | ClinVar dbSNP |
| 7 | g.44153329G>A | CA454610518 | GCK | c.*178C>T (n.*178C>T) c.180C>T (p.Thr60=) n.666C>T c.183C>T (p.Thr61=) c.177C>T (p.Thr59=) | gnomAD v4 |
| 7 | g.44153329G>C | CA454610519 | GCK | c.*178C>G (n.*178C>G) c.180C>G (p.Thr60=) n.666C>G c.183C>G (p.Thr61=) c.177C>G (p.Thr59=) | |
| 7 | g.44153329G>T | CA454610520 | GCK | c.*178C>A (n.*178C>A) c.180C>A (p.Thr60=) n.666C>A c.183C>A (p.Thr61=) c.177C>A (p.Thr59=) | |
| 7 | g.44153331_44153334del | CA2682576749 | GCK | c.*175_*178del (n.*175_*178del) c.177_180del (p.Tyr61CysfsTer25) n.663_666del c.180_183del (p.Tyr62CysfsTer25) c.174_177del (p.Tyr60CysfsTer25) | gnomAD v4 |
| 7 | g.44153330G>A | CA4239709 | GCK | c.*177C>T (n.*177C>T) c.179C>T (p.Thr60Ile) n.665C>T c.182C>T (p.Thr61Ile) c.176C>T (p.Thr59Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153330G>C | CA367403301 | GCK | c.*177C>G (n.*177C>G) c.179C>G (p.Thr60Ser) n.665C>G c.182C>G (p.Thr61Ser) c.176C>G (p.Thr59Ser) | |
| 7 | g.44153330G= | CA1703637523 | GCK | c.*177C= (n.*177C=) c.179C= (p.Thr60=) n.665C= c.182C= (p.Thr61=) c.176C= (p.Thr59=) | |
| 7 | g.44153330G>T | CA367403302 | GCK | c.*177C>A (n.*177C>A) c.179C>A (p.Thr60Asn) n.665C>A c.182C>A (p.Thr61Asn) c.176C>A (p.Thr59Asn) | |
| 7 | g.44153331T>A | CA367403303 | GCK | c.*176A>T (n.*176A>T) c.178A>T (p.Thr60Ser) n.664A>T c.181A>T (p.Thr61Ser) c.175A>T (p.Thr59Ser) | |
| 7 | g.44153331T>C | CA367403304 | GCK | c.*176A>G (n.*176A>G) c.178A>G (p.Thr60Ala) n.664A>G c.181A>G (p.Thr61Ala) c.175A>G (p.Thr59Ala) | gnomAD v4 |
| 7 | g.44153331T>G | CA367403305 | GCK | c.*176A>C (n.*176A>C) c.178A>C (p.Thr60Pro) n.664A>C c.181A>C (p.Thr61Pro) c.175A>C (p.Thr59Pro) | dbSNP gnomAD v4 |
| 7 | g.44153331T= | CA1703637524 | GCK | c.*176A= (n.*176A=) c.178A= (p.Thr60=) n.664A= c.181A= (p.Thr61=) c.175A= (p.Thr59=) | |
| 7 | g.44153332G>A | CA454610523 | GCK | c.*175C>T (n.*175C>T) c.177C>T (p.Pro59=) n.663C>T c.180C>T (p.Pro60=) c.174C>T (p.Pro58=) | dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153332G>C | CA454610524 | GCK | c.*175C>G (n.*175C>G) c.177C>G (p.Pro59=) n.663C>G c.180C>G (p.Pro60=) c.174C>G (p.Pro58=) | |
| 7 | g.44153332G= | CA1703637525 | GCK | c.*175C= (n.*175C=) c.177C= (p.Pro59=) n.663C= c.180C= (p.Pro60=) c.174C= (p.Pro58=) | |
| 7 | g.44153332G>T | CA4239710 | GCK | c.*175C>A (n.*175C>A) c.177C>A (p.Pro59=) n.663C>A c.180C>A (p.Pro60=) c.174C>A (p.Pro58=) | dbSNP ExAC |
| 7 | g.44153333G>A | CA367403308 | GCK | c.*174C>T (n.*174C>T) c.176C>T (p.Pro59Leu) n.662C>T c.179C>T (p.Pro60Leu) c.173C>T (p.Pro58Leu) | |
| 7 | g.44153333G>C | CA367403306 | GCK | c.*174C>G (n.*174C>G) c.176C>G (p.Pro59Arg) n.662C>G c.179C>G (p.Pro60Arg) c.173C>G (p.Pro58Arg) | |
| 7 | g.44153333G>T | CA367403307 | GCK | c.*174C>A (n.*174C>A) c.176C>A (p.Pro59His) n.662C>A c.179C>A (p.Pro60His) c.173C>A (p.Pro58His) | |
| 7 | g.44153334G>A | CA213767 | GCK | c.*173C>T (n.*173C>T) c.175C>T (p.Pro59Ser) n.661C>T c.178C>T (p.Pro60Ser) c.172C>T (p.Pro58Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153334G>C | CA367403309 | GCK | c.*173C>G (n.*173C>G) c.175C>G (p.Pro59Ala) n.661C>G c.178C>G (p.Pro60Ala) c.172C>G (p.Pro58Ala) | ClinVar dbSNP |
| 7 | g.44153334G= | CA1703637526 | GCK | c.*173C= (n.*173C=) c.175C= (p.Pro59=) n.661C= c.178C= (p.Pro60=) c.172C= (p.Pro58=) | |
| 7 | g.44153334G>T | CA367403310 | GCK | c.*173C>A (n.*173C>A) c.175C>A (p.Pro59Thr) n.661C>A c.178C>A (p.Pro60Thr) c.172C>A (p.Pro58Thr) | |
| 7 | g.44153335C>A | CA454610533 | GCK | c.*172G>T (n.*172G>T) c.174G>T (p.Leu58=) n.660G>T c.177G>T (p.Leu59=) c.171G>T (p.Leu57=) | |
| 7 | g.44153335C>G | CA454610535 | GCK | c.*172G>C (n.*172G>C) c.174G>C (p.Leu58=) n.660G>C c.177G>C (p.Leu59=) c.171G>C (p.Leu57=) | |
| 7 | g.44153335C>T | CA454610536 | GCK | c.*172G>A (n.*172G>A) c.174G>A (p.Leu58=) n.660G>A c.177G>A (p.Leu59=) c.171G>A (p.Leu57=) | |
| 7 | g.44153336A>C | CA367403311 | GCK | c.*171T>G (n.*171T>G) c.173T>G (p.Leu58Arg) n.659T>G c.176T>G (p.Leu59Arg) c.170T>G (p.Leu57Arg) | |
| 7 | g.44153336A>G | CA500004 | GCK | c.*171T>C (n.*171T>C) c.173T>C (p.Leu58Pro) n.659T>C c.176T>C (p.Leu59Pro) c.170T>C (p.Leu57Pro) | |
| 7 | g.44153336A>T | CA367403312 | GCK | c.*171T>A (n.*171T>A) c.173T>A (p.Leu58Gln) n.659T>A c.176T>A (p.Leu59Gln) c.170T>A (p.Leu57Gln) | |
| 7 | g.44153337G>A | CA454610538 | GCK | c.*170C>T (n.*170C>T) c.172C>T (p.Leu58=) n.658C>T c.175C>T (p.Leu59=) c.169C>T (p.Leu57=) | gnomAD v4 |
| 7 | g.44153337G>C | CA367403313 | GCK | c.*170C>G (n.*170C>G) c.172C>G (p.Leu58Val) n.658C>G c.175C>G (p.Leu59Val) c.169C>G (p.Leu57Val) | |
| 7 | g.44153337G>T | CA367403314 | GCK | c.*170C>A (n.*170C>A) c.172C>A (p.Leu58Met) n.658C>A c.175C>A (p.Leu59Met) c.169C>A (p.Leu57Met) | |
| 7 | g.44153338del | CA2695203018 | GCK | c.*169del (n.*169del) c.171del (p.Met57IlefsTer30) n.657del c.174del (p.Met58IlefsTer30) c.168del (p.Met56IlefsTer30) | |
| 7 | g.44153338C>A | CA16603236 | GCK | c.*169G>T (n.*169G>T) c.171G>T (p.Met57Ile) n.657G>T c.174G>T (p.Met58Ile) c.168G>T (p.Met56Ile) | ClinVar dbSNP |
| 7 | g.44153338C= | CA1703637527 | GCK | c.*169G= (n.*169G=) c.171G= (p.Met57=) n.657G= c.174G= (p.Met58=) c.168G= (p.Met56=) |