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.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.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) | 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=) | |
| 7 | g.44153389C>G | CA367403477 | GCK | c.*118G>C (n.*118G>C) c.120G>C (p.Glu40Asp) n.606G>C c.123G>C (p.Glu41Asp) c.117G>C (p.Glu39Asp) | |
| 7 | g.44153389C>T | CA454610614 | GCK | c.*118G>A (n.*118G>A) c.120G>A (p.Glu40=) n.606G>A c.123G>A (p.Glu41=) c.117G>A (p.Glu39=) | dbSNP COSMIC COSMIC COSMIC |
| 7 | g.44153391_44153393del | CA2695203026 | GCK | c.*116_*118del (n.*116_*118del) c.118_120del (p.Glu40del) n.604_606del c.121_123del (p.Glu41del) c.115_117del (p.Glu39del) | |
| 7 | g.44153390T>A | CA367403481 | GCK | c.*117A>T (n.*117A>T) c.119A>T (p.Glu40Val) n.605A>T c.122A>T (p.Glu41Val) c.116A>T (p.Glu39Val) | |
| 7 | g.44153390T>C | CA367403484 | GCK | c.*117A>G (n.*117A>G) c.119A>G (p.Glu40Gly) n.605A>G c.122A>G (p.Glu41Gly) c.116A>G (p.Glu39Gly) | |
| 7 | g.44153390T>G | CA367403483 | GCK | c.*117A>C (n.*117A>C) c.119A>C (p.Glu40Ala) n.605A>C c.122A>C (p.Glu41Ala) c.116A>C (p.Glu39Ala) | |
| 7 | g.44153391C>A | CA367403485 | GCK | c.*116G>T (n.*116G>T) c.118G>T (p.Glu40Ter) n.604G>T c.121G>T (p.Glu41Ter) c.115G>T (p.Glu39Ter) n.553G>T | ClinVar |
| 7 | g.44153391C= | CA1703637557 | GCK | c.*116G= (n.*116G=) c.118G= (p.Glu40=) n.604G= c.121G= (p.Glu41=) c.115G= (p.Glu39=) n.553G= | |
| 7 | g.44153391C>G | CA367403488 | GCK | c.*116G>C (n.*116G>C) c.118G>C (p.Glu40Gln) n.604G>C c.121G>C (p.Glu41Gln) c.115G>C (p.Glu39Gln) n.553G>C | |
| 7 | g.44153391C>T | CA201503 | GCK | c.*116G>A (n.*116G>A) c.118G>A (p.Glu40Lys) n.604G>A c.121G>A (p.Glu41Lys) c.115G>A (p.Glu39Lys) n.553G>A | ClinVar dbSNP |
| 7 | g.44153392del | CA2695203027 | GCK | c.*116del (n.*116del) c.118del (p.Glu40ArgfsTer6) n.604del c.121del (p.Glu41ArgfsTer6) c.115del (p.Glu39ArgfsTer6) n.553del | |
| 7 | g.44153391_44153394delinsCCTT | CA1703637558 | GCK | c.*113_*116delinsAAGG (n.*113_*116delinsAAGG) c.115_118delinsAAGG (p.Lys39=) n.601_604delinsAAGG c.118_121delinsAAGG (p.Lys40=) c.112_115delinsAAGG (p.Lys38=) n.550_553delinsAAGG | |
| 7 | g.44153392C>A | CA367403492 | GCK | c.*115G>T (n.*115G>T) c.117G>T (p.Lys39Asn) n.603G>T c.120G>T (p.Lys40Asn) c.114G>T (p.Lys38Asn) n.552G>T | |
| 7 | g.44153392C= | CA1703637559 | GCK | c.*115G= (n.*115G=) c.117G= (p.Lys39=) n.603G= c.120G= (p.Lys40=) c.114G= (p.Lys38=) n.552G= | |
| 7 | g.44153392C>G | CA367403494 | GCK | c.*115G>C (n.*115G>C) c.117G>C (p.Lys39Asn) n.603G>C c.120G>C (p.Lys40Asn) c.114G>C (p.Lys38Asn) n.552G>C | |
| 7 | g.44153392C>T | CA213735 | GCK | c.*115G>A (n.*115G>A) c.117G>A (p.Lys39=) n.603G>A c.120G>A (p.Lys40=) c.114G>A (p.Lys38=) n.552G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153394_44153396del | CA1139660059 | GCK | c.*113_*115del (n.*113_*115del) c.115_117del (p.Lys39del) n.601_603del c.118_120del (p.Lys40del) c.112_114del (p.Lys38del) n.550_552del | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153393T>A | CA367403496 | GCK | c.*114A>T (n.*114A>T) c.116A>T (p.Lys39Met) n.602A>T c.119A>T (p.Lys40Met) c.113A>T (p.Lys38Met) n.551A>T | |
| 7 | g.44153393T>C | CA367403498 | GCK | c.*114A>G (n.*114A>G) c.116A>G (p.Lys39Arg) n.602A>G c.119A>G (p.Lys40Arg) c.113A>G (p.Lys38Arg) n.551A>G | |
| 7 | g.44153393T>G | CA367403500 | GCK | c.*114A>C (n.*114A>C) c.116A>C (p.Lys39Thr) n.602A>C c.119A>C (p.Lys40Thr) c.113A>C (p.Lys38Thr) n.551A>C | |
| 7 | g.44153394del | CA2695203028 | GCK | c.*114del (n.*114del) c.116del (p.Lys39ArgfsTer7) n.602del c.119del (p.Lys40ArgfsTer7) c.113del (p.Lys38ArgfsTer7) n.551del | |
| 7 | g.44153394T>A | CA367403503 | GCK | c.*113A>T (n.*113A>T) c.115A>T (p.Lys39Ter) n.601A>T c.118A>T (p.Lys40Ter) c.112A>T (p.Lys38Ter) n.550A>T | |
| 7 | g.44153394T>C | CA367403507 | GCK | c.*113A>G (n.*113A>G) c.115A>G (p.Lys39Glu) n.601A>G c.118A>G (p.Lys40Glu) c.112A>G (p.Lys38Glu) n.550A>G | |
| 7 | g.44153394T>G | CA367403508 | GCK | c.*113A>C (n.*113A>C) c.115A>C (p.Lys39Gln) n.601A>C c.118A>C (p.Lys40Gln) c.112A>C (p.Lys38Gln) n.550A>C | |
| 7 | g.44153395C>A | CA367403511 | GCK | c.*112G>T (n.*112G>T) c.114G>T (p.Gln38His) n.600G>T c.117G>T (p.Gln39His) c.111G>T (p.Gln37His) n.549G>T | |
| 7 | g.44153395C>G | CA367403520 | GCK | c.*112G>C (n.*112G>C) c.114G>C (p.Gln38His) n.600G>C c.117G>C (p.Gln39His) c.111G>C (p.Gln37His) n.549G>C | |
| 7 | g.44153395C>T | CA454610619 | GCK | c.*112G>A (n.*112G>A) c.114G>A (p.Gln38=) n.600G>A c.117G>A (p.Gln39=) c.111G>A (p.Gln37=) n.549G>A | |
| 7 | g.44153396T>A | CA367403522 | GCK | c.*111A>T (n.*111A>T) c.113A>T (p.Gln38Leu) n.599A>T c.116A>T (p.Gln39Leu) c.110A>T (p.Gln37Leu) n.548A>T | ClinVar |
| 7 | g.44153396T>C | CA367403526 | GCK | c.*111A>G (n.*111A>G) c.113A>G (p.Gln38Arg) n.599A>G c.116A>G (p.Gln39Arg) c.110A>G (p.Gln37Arg) n.548A>G | |
| 7 | g.44153396T>G | CA16618475 | GCK | c.*111A>C (n.*111A>C) c.113A>C (p.Gln38Pro) n.599A>C c.116A>C (p.Gln39Pro) c.110A>C (p.Gln37Pro) n.548A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153396T= | CA1703637560 | GCK | c.*111A= (n.*111A=) c.113A= (p.Gln38=) n.599A= c.116A= (p.Gln39=) c.110A= (p.Gln37=) n.548A= | |
| 7 | g.44153397G>A | CA10581556 | GCK | c.*110C>T (n.*110C>T) c.112C>T (p.Gln38Ter) n.598C>T c.115C>T (p.Gln39Ter) c.109C>T (p.Gln37Ter) n.547C>T | ClinVar dbSNP |
| 7 | g.44153397G>C | CA367403533 | GCK | c.*110C>G (n.*110C>G) c.112C>G (p.Gln38Glu) n.598C>G c.115C>G (p.Gln39Glu) c.109C>G (p.Gln37Glu) n.547C>G | |
| 7 | g.44153397G= | CA1703637561 | GCK | c.*110C= (n.*110C=) c.112C= (p.Gln38=) n.598C= c.115C= (p.Gln39=) c.109C= (p.Gln37=) n.547C= | |
| 7 | g.44153397G>T | CA367403530 | GCK | c.*110C>A (n.*110C>A) c.112C>A (p.Gln38Lys) n.598C>A c.115C>A (p.Gln39Lys) c.109C>A (p.Gln37Lys) n.547C>A | |
| 7 | g.44153398C>A | CA367403537 | GCK | c.*109G>T (n.*109G>T) c.111G>T (p.Met37Ile) n.597G>T c.114G>T (p.Met38Ile) c.108G>T (p.Met36Ile) n.546G>T | |
| 7 | g.44153398C>G | CA367403539 | GCK | c.*109G>C (n.*109G>C) c.111G>C (p.Met37Ile) n.597G>C c.114G>C (p.Met38Ile) c.108G>C (p.Met36Ile) n.546G>C | |
| 7 | g.44153398C>T | CA367403540 | GCK | c.*109G>A (n.*109G>A) c.111G>A (p.Met37Ile) n.597G>A c.114G>A (p.Met38Ile) c.108G>A (p.Met36Ile) n.546G>A | |
| 7 | g.44153399A>C | CA367403541 | GCK | c.*108T>G (n.*108T>G) c.110T>G (p.Met37Arg) n.596T>G c.113T>G (p.Met38Arg) c.107T>G (p.Met36Arg) n.545T>G | ClinVar |
| 7 | g.44153399A>G | CA367403544 | GCK | c.*108T>C (n.*108T>C) c.110T>C (p.Met37Thr) n.596T>C c.113T>C (p.Met38Thr) c.107T>C (p.Met36Thr) n.545T>C | ClinVar |
| 7 | g.44153399A>T | CA367403546 | GCK | c.*108T>A (n.*108T>A) c.110T>A (p.Met37Lys) n.596T>A c.113T>A (p.Met38Lys) c.107T>A (p.Met36Lys) n.545T>A | ClinVar |
| 7 | g.44153400T>A | CA367403550 | GCK | c.*107A>T (n.*107A>T) c.109A>T (p.Met37Leu) n.595A>T c.112A>T (p.Met38Leu) c.106A>T (p.Met36Leu) n.544A>T | |
| 7 | g.44153400T>C | CA367403551 | GCK | c.*107A>G (n.*107A>G) c.109A>G (p.Met37Val) n.595A>G c.112A>G (p.Met38Val) c.106A>G (p.Met36Val) n.544A>G | ClinVar |
| 7 | g.44153400T>G | CA367403553 | GCK | c.*107A>C (n.*107A>C) c.109A>C (p.Met37Leu) n.595A>C c.112A>C (p.Met38Leu) c.106A>C (p.Met36Leu) n.544A>C | |
| 7 | g.44153401C>A | CA454610624 | GCK | c.*106G>T (n.*106G>T) c.108G>T (p.Arg36=) n.594G>T c.111G>T (p.Arg37=) c.105G>T (p.Arg35=) n.543G>T | |
| 7 | g.44153401C= | CA1703637562 | GCK | c.*106G= (n.*106G=) c.108G= (p.Arg36=) n.594G= c.111G= (p.Arg37=) c.105G= (p.Arg35=) n.543G= | |
| 7 | g.44153401C>G | CA454610626 | GCK | c.*106G>C (n.*106G>C) c.108G>C (p.Arg36=) n.594G>C c.111G>C (p.Arg37=) c.105G>C (p.Arg35=) n.543G>C | |
| 7 | g.44153401C>T | CA4239719 | GCK | c.*106G>A (n.*106G>A) c.108G>A (p.Arg36=) n.594G>A c.111G>A (p.Arg37=) c.105G>A (p.Arg35=) n.543G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153402C>A | CA367403558 | GCK | c.*105G>T (n.*105G>T) c.107G>T (p.Arg36Leu) n.593G>T c.110G>T (p.Arg37Leu) c.104G>T (p.Arg35Leu) n.542G>T | |
| 7 | g.44153402C= | CA1703637563 | GCK | c.*105G= (n.*105G=) c.107G= (p.Arg36=) n.593G= c.110G= (p.Arg37=) c.104G= (p.Arg35=) n.542G= | |
| 7 | g.44153402C>G | CA213709 | GCK | c.*105G>C (n.*105G>C) c.107G>C (p.Arg36Pro) n.593G>C c.110G>C (p.Arg37Pro) c.104G>C (p.Arg35Pro) n.542G>C | ClinVar dbSNP |
| 7 | g.44153402C>T | CA367403564 | GCK | c.*105G>A (n.*105G>A) c.107G>A (p.Arg36Gln) n.593G>A c.110G>A (p.Arg37Gln) c.104G>A (p.Arg35Gln) n.542G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>A | CA4239720 | GCK | c.*104C>T (n.*104C>T) c.106C>T (p.Arg36Trp) n.592C>T c.109C>T (p.Arg37Trp) c.103C>T (p.Arg35Trp) n.541C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153403G>C | CA367403568 | GCK | c.*104C>G (n.*104C>G) c.106C>G (p.Arg36Gly) n.592C>G c.109C>G (p.Arg37Gly) c.103C>G (p.Arg35Gly) n.541C>G | |
| 7 | g.44153403G= | CA1703637564 | GCK | c.*104C= (n.*104C=) c.106C= (p.Arg36=) n.592C= c.109C= (p.Arg37=) c.103C= (p.Arg35=) n.541C= | |
| 7 | g.44153403G>T | CA454610627 | GCK | c.*104C>A (n.*104C>A) c.106C>A (p.Arg36=) n.592C>A c.109C>A (p.Arg37=) c.103C>A (p.Arg35=) n.541C>A | gnomAD v4 |
| 7 | g.44153404T>A | CA367403569 | GCK | c.*103A>T (n.*103A>T) c.105A>T (p.Arg35Ser) n.591A>T c.108A>T (p.Arg36Ser) c.102A>T (p.Arg34Ser) n.540A>T | |
| 7 | g.44153404T>C | CA454610629 | GCK | c.*103A>G (n.*103A>G) c.105A>G (p.Arg35=) n.591A>G c.108A>G (p.Arg36=) c.102A>G (p.Arg34=) n.540A>G | |
| 7 | g.44153404T>G | CA367403571 | GCK | c.*103A>C (n.*103A>C) c.105A>C (p.Arg35Ser) n.591A>C c.108A>C (p.Arg36Ser) c.102A>C (p.Arg34Ser) n.540A>C | |
| 7 | g.44153405C>A | CA367403573 | GCK | c.*102G>T (n.*102G>T) c.104G>T (p.Arg35Ile) n.590G>T c.107G>T (p.Arg36Ile) c.101G>T (p.Arg34Ile) n.539G>T | |
| 7 | g.44153405C= | CA1703637565 | GCK | c.*102G= (n.*102G=) c.104G= (p.Arg35=) n.590G= c.107G= (p.Arg36=) c.101G= (p.Arg34=) n.539G= | |
| 7 | g.44153405C>G | CA367403576 | GCK | c.*102G>C (n.*102G>C) c.104G>C (p.Arg35Thr) n.590G>C c.107G>C (p.Arg36Thr) c.101G>C (p.Arg34Thr) n.539G>C | gnomAD v4 |
| 7 | g.44153405C>T | CA367403578 | GCK | c.*102G>A (n.*102G>A) c.104G>A (p.Arg35Lys) n.590G>A c.107G>A (p.Arg36Lys) c.101G>A (p.Arg34Lys) n.539G>A | dbSNP gnomAD v2 |
| 7 | g.44153406T>A | CA213705 | GCK | c.*101A>T (n.*101A>T) c.103A>T (p.Arg35Ter) n.589A>T c.106A>T (p.Arg36Ter) c.100A>T (p.Arg34Ter) n.538A>T | ClinVar dbSNP |
| 7 | g.44153406T>C | CA367403581 | GCK | c.*101A>G (n.*101A>G) c.103A>G (p.Arg35Gly) n.589A>G c.106A>G (p.Arg36Gly) c.100A>G (p.Arg34Gly) n.538A>G | |
| 7 | g.44153406T>G | CA454610630 | GCK | c.*101A>C (n.*101A>C) c.103A>C (p.Arg35=) n.589A>C c.106A>C (p.Arg36=) c.100A>C (p.Arg34=) n.538A>C | |
| 7 | g.44153406T= | CA1703637566 | GCK | c.*101A= (n.*101A=) c.103A= (p.Arg35=) n.589A= c.106A= (p.Arg36=) c.100A= (p.Arg34=) n.538A= | |
| 7 | g.44153407C>A | CA367403583 | GCK | c.*100G>T (n.*100G>T) c.102G>T (p.Met34Ile) n.588G>T c.105G>T (p.Met35Ile) c.99G>T (p.Met33Ile) n.537G>T | |
| 7 | g.44153407C= | CA1703637567 | GCK | c.*100G= (n.*100G=) c.102G= (p.Met34=) n.588G= c.105G= (p.Met35=) c.99G= (p.Met33=) n.537G= | |
| 7 | g.44153407C>G | CA367403585 | GCK | c.*100G>C (n.*100G>C) c.102G>C (p.Met34Ile) n.588G>C c.105G>C (p.Met35Ile) c.99G>C (p.Met33Ile) n.537G>C | |
| 7 | g.44153407C>T | CA367403586 | GCK | c.*100G>A (n.*100G>A) c.102G>A (p.Met34Ile) n.588G>A c.105G>A (p.Met35Ile) c.99G>A (p.Met33Ile) n.537G>A | ClinVar dbSNP |
| 7 | g.44153408A>C | CA367403589 | GCK | c.*99T>G (n.*99T>G) c.101T>G (p.Met34Arg) n.587T>G c.104T>G (p.Met35Arg) c.98T>G (p.Met33Arg) n.536T>G | |
| 7 | g.44153408A>G | CA367403591 | GCK | c.*99T>C (n.*99T>C) c.101T>C (p.Met34Thr) n.587T>C c.104T>C (p.Met35Thr) c.98T>C (p.Met33Thr) n.536T>C | gnomAD v4 |
| 7 | g.44153408A>T | CA367403593 | GCK | c.*99T>A (n.*99T>A) c.101T>A (p.Met34Lys) n.587T>A c.104T>A (p.Met35Lys) c.98T>A (p.Met33Lys) n.536T>A | |
| 7 | g.44153409T>A | CA367403601 | GCK | c.*98A>T (n.*98A>T) c.100A>T (p.Met34Leu) n.586A>T c.103A>T (p.Met35Leu) c.97A>T (p.Met33Leu) n.535A>T | |
| 7 | g.44153409T>C | CA367403596 | GCK | c.*98A>G (n.*98A>G) c.100A>G (p.Met34Val) n.586A>G c.103A>G (p.Met35Val) c.97A>G (p.Met33Val) n.535A>G | |
| 7 | g.44153409T>G | CA367403598 | GCK | c.*98A>C (n.*98A>C) c.100A>C (p.Met34Leu) n.586A>C c.103A>C (p.Met35Leu) c.97A>C (p.Met33Leu) n.535A>C | |
| 7 | g.44153410C>A | CA454610633 | GCK | c.*97G>T (n.*97G>T) c.99G>T (p.Val33=) n.585G>T c.102G>T (p.Val34=) c.96G>T (p.Val32=) n.534G>T | |
| 7 | g.44153410C= | CA1703637568 | GCK | c.*97G= (n.*97G=) c.99G= (p.Val33=) n.585G= c.102G= (p.Val34=) c.96G= (p.Val32=) n.534G= | |
| 7 | g.44153410C>G | CA454610634 | GCK | c.*97G>C (n.*97G>C) c.99G>C (p.Val33=) n.585G>C c.102G>C (p.Val34=) c.96G>C (p.Val32=) n.534G>C | |
| 7 | g.44153410C>T | CA157920076 | GCK | c.*97G>A (n.*97G>A) c.99G>A (p.Val33=) n.585G>A c.102G>A (p.Val34=) c.96G>A (p.Val32=) n.534G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153411A= | CA1703637569 | GCK | c.*96T= (n.*96T=) c.98T= (p.Val33=) n.584T= c.101T= (p.Val34=) c.95T= (p.Val32=) n.533T= | |
| 7 | g.44153411A>C | CA367403603 | GCK | c.*96T>G (n.*96T>G) c.98T>G (p.Val33Gly) n.584T>G c.101T>G (p.Val34Gly) c.95T>G (p.Val32Gly) n.533T>G | ClinVar dbSNP |
| 7 | g.44153411A>G | CA367403604 | GCK | c.*96T>C (n.*96T>C) c.98T>C (p.Val33Ala) n.584T>C c.101T>C (p.Val34Ala) c.95T>C (p.Val32Ala) n.533T>C | ClinVar dbSNP |
| 7 | g.44153411A>T | CA367403606 | GCK | c.*96T>A (n.*96T>A) c.98T>A (p.Val33Glu) n.584T>A c.101T>A (p.Val34Glu) c.95T>A (p.Val32Glu) n.533T>A | ClinVar dbSNP |
| 7 | g.44153412C>A | CA367403609 | GCK | c.*95G>T (n.*95G>T) c.97G>T (p.Val33Leu) n.583G>T c.100G>T (p.Val34Leu) c.94G>T (p.Val32Leu) n.532G>T | gnomAD v4 |
| 7 | g.44153412C>G | CA367403611 | GCK | c.*95G>C (n.*95G>C) c.97G>C (p.Val33Leu) n.583G>C c.100G>C (p.Val34Leu) c.94G>C (p.Val32Leu) n.532G>C | |
| 7 | g.44153412C>T | CA367403613 | GCK | c.*95G>A (n.*95G>A) c.97G>A (p.Val33Met) n.583G>A c.100G>A (p.Val34Met) c.94G>A (p.Val32Met) n.532G>A | |
| 7 | g.44153413C>A | CA367403615 | GCK | c.*94G>T (n.*94G>T) c.96G>T (p.Lys32Asn) n.582G>T c.99G>T (p.Lys33Asn) c.93G>T (p.Lys31Asn) n.531G>T | |
| 7 | g.44153413C>G | CA367403617 | GCK | c.*94G>C (n.*94G>C) c.96G>C (p.Lys32Asn) n.582G>C c.99G>C (p.Lys33Asn) c.93G>C (p.Lys31Asn) n.531G>C | |
| 7 | g.44153413C>T | CA454610639 | GCK | c.*94G>A (n.*94G>A) c.96G>A (p.Lys32=) n.582G>A c.99G>A (p.Lys33=) c.93G>A (p.Lys31=) n.531G>A | gnomAD v4 |
| 7 | g.44153417_44153419del | CA2695203029 | GCK | c.*92_*94del (n.*92_*94del) c.94_96del (p.Lys32del) n.580_582del c.97_99del (p.Lys33del) c.91_93del (p.Lys31del) n.529_531del | |
| 7 | g.44153414T>A | CA367403619 | GCK | c.*93A>T (n.*93A>T) c.95A>T (p.Lys32Met) n.581A>T c.98A>T (p.Lys33Met) c.92A>T (p.Lys31Met) n.530A>T | |
| 7 | g.44153414T>C | CA367403622 | GCK | c.*93A>G (n.*93A>G) c.95A>G (p.Lys32Arg) n.581A>G c.98A>G (p.Lys33Arg) c.92A>G (p.Lys31Arg) n.530A>G | |
| 7 | g.44153414T>G | CA367403624 | GCK | c.*93A>C (n.*93A>C) c.95A>C (p.Lys32Thr) n.581A>C c.98A>C (p.Lys33Thr) c.92A>C (p.Lys31Thr) n.530A>C | |
| 7 | g.44153415T>A | CA367403626 | GCK | c.*92A>T (n.*92A>T) c.94A>T (p.Lys32Ter) n.580A>T c.97A>T (p.Lys33Ter) c.91A>T (p.Lys31Ter) n.529A>T | |
| 7 | g.44153415T>C | CA367403628 | GCK | c.*92A>G (n.*92A>G) c.94A>G (p.Lys32Glu) n.580A>G c.97A>G (p.Lys33Glu) c.91A>G (p.Lys31Glu) n.529A>G | gnomAD v4 |
| 7 | g.44153415T>G | CA367403630 | GCK | c.*92A>C (n.*92A>C) c.94A>C (p.Lys32Gln) n.580A>C c.97A>C (p.Lys33Gln) c.91A>C (p.Lys31Gln) n.529A>C | |
| 7 | g.44153416C>A | CA367403634 | GCK | c.*91G>T (n.*91G>T) c.93G>T (p.Lys31Asn) n.579G>T c.96G>T (p.Lys32Asn) c.90G>T (p.Lys30Asn) n.528G>T | |
| 7 | g.44153416C= | CA1703637570 | GCK | c.*91G= (n.*91G=) c.93G= (p.Lys31=) n.579G= c.96G= (p.Lys32=) c.90G= (p.Lys30=) n.528G= | |
| 7 | g.44153416C>G | CA367403632 | GCK | c.*91G>C (n.*91G>C) c.93G>C (p.Lys31Asn) n.579G>C c.96G>C (p.Lys32Asn) c.90G>C (p.Lys30Asn) n.528G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153416C>T | CA454610643 | GCK | c.*91G>A (n.*91G>A) c.93G>A (p.Lys31=) n.579G>A c.96G>A (p.Lys32=) c.90G>A (p.Lys30=) n.528G>A | |
| 7 | g.44153417T>A | CA367403638 | GCK | c.*90A>T (n.*90A>T) c.92A>T (p.Lys31Met) n.578A>T c.95A>T (p.Lys32Met) c.89A>T (p.Lys30Met) n.527A>T | |
| 7 | g.44153417T>C | CA367403640 | GCK | c.*90A>G (n.*90A>G) c.92A>G (p.Lys31Arg) n.578A>G c.95A>G (p.Lys32Arg) c.89A>G (p.Lys30Arg) n.527A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153417T>G | CA367403641 | GCK | c.*90A>C (n.*90A>C) c.92A>C (p.Lys31Thr) n.578A>C c.95A>C (p.Lys32Thr) c.89A>C (p.Lys30Thr) n.527A>C | |
| 7 | g.44153417T= | CA1703637571 | GCK | c.*90A= (n.*90A=) c.92A= (p.Lys31=) n.578A= c.95A= (p.Lys32=) c.89A= (p.Lys30=) n.527A= | |
| 7 | g.44153418dup | CA2588340110 | GCK | c.*90dup (n.*90dup) c.92dup (p.Lys32GlufsTer20) n.578dup c.95dup (p.Lys33GlufsTer20) c.89dup (p.Lys31GlufsTer20) n.527dup | |
| 7 | g.44153418T>A | CA367403644 | GCK | c.*89A>T (n.*89A>T) c.91A>T (p.Lys31Ter) n.577A>T c.94A>T (p.Lys32Ter) c.88A>T (p.Lys30Ter) n.526A>T | |
| 7 | g.44153418T>C | CA367403646 | GCK | c.*89A>G (n.*89A>G) c.91A>G (p.Lys31Glu) n.577A>G c.94A>G (p.Lys32Glu) c.88A>G (p.Lys30Glu) n.526A>G | |
| 7 | g.44153418T>G | CA367403648 | GCK | c.*89A>C (n.*89A>C) c.91A>C (p.Lys31Gln) n.577A>C c.94A>C (p.Lys32Gln) c.88A>C (p.Lys30Gln) n.526A>C | |
| 7 | g.44153419C>A | CA454610648 | GCK | c.*88G>T (n.*88G>T) c.90G>T (p.Leu30=) n.576G>T c.93G>T (p.Leu31=) c.87G>T (p.Leu29=) n.525G>T | COSMIC COSMIC COSMIC |
| 7 | g.44153419C>G | CA454610649 | GCK | c.*88G>C (n.*88G>C) c.90G>C (p.Leu30=) n.576G>C c.93G>C (p.Leu31=) c.87G>C (p.Leu29=) n.525G>C | |
| 7 | g.44153419C>T | CA454610650 | GCK | c.*88G>A (n.*88G>A) c.90G>A (p.Leu30=) n.576G>A c.93G>A (p.Leu31=) c.87G>A (p.Leu29=) n.525G>A | COSMIC COSMIC COSMIC |
| 7 | g.44153420del | CA2695203030 | GCK | c.*87del (n.*87del) c.89del (p.Leu30ArgfsTer4) n.575del c.92del (p.Leu31ArgfsTer4) c.86del (p.Leu29ArgfsTer4) n.524del | |
| 7 | g.44153420A= | CA1703637572 | GCK | c.*87T= (n.*87T=) c.89T= (p.Leu30=) n.575T= c.92T= (p.Leu31=) c.86T= (p.Leu29=) n.524T= | |
| 7 | g.44153420A>C | CA367403650 | GCK | c.*87T>G (n.*87T>G) c.89T>G (p.Leu30Arg) n.575T>G c.92T>G (p.Leu31Arg) c.86T>G (p.Leu29Arg) n.524T>G | |
| 7 | g.44153420A>G | CA10581225 | GCK | c.*87T>C (n.*87T>C) c.89T>C (p.Leu30Pro) n.575T>C c.92T>C (p.Leu31Pro) c.86T>C (p.Leu29Pro) n.524T>C | ClinVar dbSNP |
| 7 | g.44153420A>T | CA367403652 | GCK | c.*87T>A (n.*87T>A) c.89T>A (p.Leu30Gln) n.575T>A c.92T>A (p.Leu31Gln) c.86T>A (p.Leu29Gln) n.524T>A | gnomAD v4 |
| 7 | g.44153421G>A | CA454610651 | GCK | c.*86C>T (n.*86C>T) c.88C>T (p.Leu30=) n.574C>T c.91C>T (p.Leu31=) c.85C>T (p.Leu29=) n.523C>T | |
| 7 | g.44153421G>C | CA367403654 | GCK | c.*86C>G (n.*86C>G) c.88C>G (p.Leu30Val) n.574C>G c.91C>G (p.Leu31Val) c.85C>G (p.Leu29Val) n.523C>G | |
| 7 | g.44153421G>T | CA367403656 | GCK | c.*86C>A (n.*86C>A) c.88C>A (p.Leu30Met) n.574C>A c.91C>A (p.Leu31Met) c.85C>A (p.Leu29Met) n.523C>A | |
| 7 | g.44153422G>A | CA454610652 | GCK | c.*85C>T (n.*85C>T) c.87C>T (p.Asp29=) n.573C>T c.90C>T (p.Asp30=) c.84C>T (p.Asp28=) n.522C>T | |
| 7 | g.44153422G>C | CA367403657 | GCK | c.*85C>G (n.*85C>G) c.87C>G (p.Asp29Glu) n.573C>G c.90C>G (p.Asp30Glu) c.84C>G (p.Asp28Glu) n.522C>G | |
| 7 | g.44153422G>T | CA367403658 | GCK | c.*85C>A (n.*85C>A) c.87C>A (p.Asp29Glu) n.573C>A c.90C>A (p.Asp30Glu) c.84C>A (p.Asp28Glu) n.522C>A | COSMIC COSMIC COSMIC |
| 7 | g.44153423del | CA2573142155 | GCK | c.*84del (n.*84del) c.86del (p.Asp29AlafsTer2) n.572del c.89del (p.Asp30AlafsTer2) c.83del (p.Asp28AlafsTer2) n.521del | ClinVar dbSNP |
| 7 | g.44153423T>A | CA367403660 | GCK | c.*84A>T (n.*84A>T) c.86A>T (p.Asp29Val) n.572A>T c.89A>T (p.Asp30Val) c.83A>T (p.Asp28Val) n.521A>T | |
| 7 | g.44153423T>C | CA367403665 | GCK | c.*84A>G (n.*84A>G) c.86A>G (p.Asp29Gly) n.572A>G c.89A>G (p.Asp30Gly) c.83A>G (p.Asp28Gly) n.521A>G | COSMIC COSMIC COSMIC |
| 7 | g.44153423T>G | CA367403662 | GCK | c.*84A>C (n.*84A>C) c.86A>C (p.Asp29Ala) n.572A>C c.89A>C (p.Asp30Ala) c.83A>C (p.Asp28Ala) n.521A>C | |
| 7 | g.44153430_44153432del | CA2682576761 | GCK | c.*82_*84del (n.*82_*84del) c.84_86del (p.Glu28del) n.570_572del c.87_89del (p.Glu29del) c.81_83del (p.Glu27del) n.519_521del | gnomAD v4 |
| 7 | g.44153424C>A | CA367403666 | GCK | c.*83G>T (n.*83G>T) c.85G>T (p.Asp29Tyr) n.571G>T c.88G>T (p.Asp30Tyr) c.82G>T (p.Asp28Tyr) n.520G>T | ClinVar |
| 7 | g.44153424C>G | CA367403671 | GCK | c.*83G>C (n.*83G>C) c.85G>C (p.Asp29His) n.571G>C c.88G>C (p.Asp30His) c.82G>C (p.Asp28His) n.520G>C | |
| 7 | g.44153424C>T | CA367403669 | GCK | c.*83G>A (n.*83G>A) c.85G>A (p.Asp29Asn) n.571G>A c.88G>A (p.Asp30Asn) c.82G>A (p.Asp28Asn) n.520G>A | |
| 7 | g.44153425C>A | CA367403674 | GCK | c.*82G>T (n.*82G>T) c.84G>T (p.Glu28Asp) n.570G>T c.87G>T (p.Glu29Asp) c.81G>T (p.Glu27Asp) n.519G>T | |
| 7 | g.44153425C>G | CA367403677 | GCK | c.*82G>C (n.*82G>C) c.84G>C (p.Glu28Asp) n.570G>C c.87G>C (p.Glu29Asp) c.81G>C (p.Glu27Asp) n.519G>C | |
| 7 | g.44153425C>T | CA454610654 | GCK | c.*82G>A (n.*82G>A) c.84G>A (p.Glu28=) n.570G>A c.87G>A (p.Glu29=) c.81G>A (p.Glu27=) n.519G>A | |
| 7 | g.44153426del | CA2695203031 | GCK | c.*81del (n.*81del) c.83del (p.Glu28GlyfsTer3) n.569del c.86del (p.Glu29GlyfsTer3) c.80del (p.Glu27GlyfsTer3) n.518del | |
| 7 | g.44153426T>A | CA367403679 | GCK | c.*81A>T (n.*81A>T) c.83A>T (p.Glu28Val) n.569A>T c.86A>T (p.Glu29Val) c.80A>T (p.Glu27Val) n.518A>T | |
| 7 | g.44153426T>C | CA367403680 | GCK | c.*81A>G (n.*81A>G) c.83A>G (p.Glu28Gly) n.569A>G c.86A>G (p.Glu29Gly) c.80A>G (p.Glu27Gly) n.518A>G | |
| 7 | g.44153426T>G | CA367403683 | GCK | c.*81A>C (n.*81A>C) c.83A>C (p.Glu28Ala) n.569A>C c.86A>C (p.Glu29Ala) c.80A>C (p.Glu27Ala) n.518A>C | |
| 7 | g.44153427C>A | CA367403685 | GCK | c.*80G>T (n.*80G>T) c.82G>T (p.Glu28Ter) n.568G>T c.85G>T (p.Glu29Ter) c.79G>T (p.Glu27Ter) n.517G>T | |
| 7 | g.44153427C>G | CA367403688 | GCK | c.*80G>C (n.*80G>C) c.82G>C (p.Glu28Gln) n.568G>C c.85G>C (p.Glu29Gln) c.79G>C (p.Glu27Gln) n.517G>C | |
| 7 | g.44153427C>T | CA367403690 | GCK | c.*80G>A (n.*80G>A) c.82G>A (p.Glu28Lys) n.568G>A c.85G>A (p.Glu29Lys) c.79G>A (p.Glu27Lys) n.517G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153428C>A | CA367403691 | GCK | c.*79G>T (n.*79G>T) c.81G>T (p.Glu27Asp) n.567G>T c.84G>T (p.Glu28Asp) c.78G>T (p.Glu26Asp) n.516G>T | |
| 7 | g.44153428C>G | CA367403693 | GCK | c.*79G>C (n.*79G>C) c.81G>C (p.Glu27Asp) n.567G>C c.84G>C (p.Glu28Asp) c.78G>C (p.Glu26Asp) n.516G>C | |
| 7 | g.44153428C>T | CA454610659 | GCK | c.*79G>A (n.*79G>A) c.81G>A (p.Glu27=) n.567G>A c.84G>A (p.Glu28=) c.78G>A (p.Glu26=) n.516G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153429T>A | CA367403696 | GCK | c.*78A>T (n.*78A>T) c.80A>T (p.Glu27Val) n.566A>T c.83A>T (p.Glu28Val) c.77A>T (p.Glu26Val) n.515A>T | |
| 7 | g.44153429T>C | CA367403698 | GCK | c.*78A>G (n.*78A>G) c.80A>G (p.Glu27Gly) n.566A>G c.83A>G (p.Glu28Gly) c.77A>G (p.Glu26Gly) n.515A>G | |
| 7 | g.44153429T>G | CA367403702 | GCK | c.*78A>C (n.*78A>C) c.80A>C (p.Glu27Ala) n.566A>C c.83A>C (p.Glu28Ala) c.77A>C (p.Glu26Ala) n.515A>C | |
| 7 | g.44153430C>A | CA367403704 | GCK | c.*77G>T (n.*77G>T) c.79G>T (p.Glu27Ter) n.565G>T c.82G>T (p.Glu28Ter) c.76G>T (p.Glu26Ter) n.514G>T | |
| 7 | g.44153430C= | CA1703637573 | GCK | c.*77G= (n.*77G=) c.79G= (p.Glu27=) n.565G= c.82G= (p.Glu28=) c.76G= (p.Glu26=) n.514G= | |
| 7 | g.44153430C>G | CA367403709 | GCK | c.*77G>C (n.*77G>C) c.79G>C (p.Glu27Gln) n.565G>C c.82G>C (p.Glu28Gln) c.76G>C (p.Glu26Gln) n.514G>C | dbSNP |
| 7 | g.44153430C>T | CA367403707 | GCK | c.*77G>A (n.*77G>A) c.79G>A (p.Glu27Lys) n.565G>A c.82G>A (p.Glu28Lys) c.76G>A (p.Glu26Lys) n.514G>A | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153431C>A | CA367403711 | GCK | c.*76G>T (n.*76G>T) c.78G>T (p.Gln26His) n.564G>T c.81G>T (p.Gln27His) c.75G>T (p.Gln25His) n.513G>T | |
| 7 | g.44153431C>G | CA367403713 | GCK | c.*76G>C (n.*76G>C) c.78G>C (p.Gln26His) n.564G>C c.81G>C (p.Gln27His) c.75G>C (p.Gln25His) n.513G>C | |
| 7 | g.44153431C>T | CA454610662 | GCK | c.*76G>A (n.*76G>A) c.78G>A (p.Gln26=) n.564G>A c.81G>A (p.Gln27=) c.75G>A (p.Gln25=) n.513G>A | |
| 7 | g.44153432T>A | CA367403715 | GCK | c.*75A>T (n.*75A>T) c.77A>T (p.Gln26Leu) n.563A>T c.80A>T (p.Gln27Leu) c.74A>T (p.Gln25Leu) n.512A>T | |
| 7 | g.44153432T>C | CA367403718 | GCK | c.*75A>G (n.*75A>G) c.77A>G (p.Gln26Arg) n.563A>G c.80A>G (p.Gln27Arg) c.74A>G (p.Gln25Arg) n.512A>G | dbSNP |
| 7 | g.44153432T>G | CA367403719 | GCK | c.*75A>C (n.*75A>C) c.77A>C (p.Gln26Pro) n.563A>C c.80A>C (p.Gln27Pro) c.74A>C (p.Gln25Pro) n.512A>C | |
| 7 | g.44153432T= | CA1703637574 | GCK | c.*75A= (n.*75A=) c.77A= (p.Gln26=) n.563A= c.80A= (p.Gln27=) c.74A= (p.Gln25=) n.512A= | |
| 7 | g.44153433del | CA2695203032 | GCK | c.*74del (n.*74del) c.76del (p.Gln26ArgfsTer5) n.562del c.79del (p.Gln27ArgfsTer5) c.73del (p.Gln25ArgfsTer5) n.511del | |
| 7 | g.44153433G>A | CA213850 | GCK | c.*74C>T (n.*74C>T) c.76C>T (p.Gln26Ter) n.562C>T c.79C>T (p.Gln27Ter) c.73C>T (p.Gln25Ter) n.511C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153433G>C | CA367403723 | GCK | c.*74C>G (n.*74C>G) c.76C>G (p.Gln26Glu) n.562C>G c.79C>G (p.Gln27Glu) c.73C>G (p.Gln25Glu) n.511C>G | |
| 7 | g.44153433G= | CA1703637575 | GCK | c.*74C= (n.*74C=) c.76C= (p.Gln26=) n.562C= c.79C= (p.Gln27=) c.73C= (p.Gln25=) n.511C= | |
| 7 | g.44153433G>T | CA367403728 | GCK | c.*74C>A (n.*74C>A) c.76C>A (p.Gln26Lys) n.562C>A c.79C>A (p.Gln27Lys) c.73C>A (p.Gln25Lys) n.511C>A | |
| 7 | g.44153434C>A | CA454610665 | GCK | c.*73G>T (n.*73G>T) c.75G>T (p.Leu25=) n.561G>T c.78G>T (p.Leu26=) c.72G>T (p.Leu24=) n.510G>T | |
| 7 | g.44153434C>G | CA454610666 | GCK | c.*73G>C (n.*73G>C) c.75G>C (p.Leu25=) n.561G>C c.78G>C (p.Leu26=) c.72G>C (p.Leu24=) n.510G>C | |
| 7 | g.44153434C>T | CA454610667 | GCK | c.*73G>A (n.*73G>A) c.75G>A (p.Leu25=) n.561G>A c.78G>A (p.Leu26=) c.72G>A (p.Leu24=) n.510G>A | |
| 7 | g.44153435A= | CA1703637576 | GCK | c.*72T= (n.*72T=) c.74T= (p.Leu25=) n.560T= c.77T= (p.Leu26=) c.71T= (p.Leu24=) n.509T= | |
| 7 | g.44153435A>C | CA213838 | GCK | c.*72T>G (n.*72T>G) c.74T>G (p.Leu25Arg) n.560T>G c.77T>G (p.Leu26Arg) c.71T>G (p.Leu24Arg) n.509T>G | ClinVar dbSNP |
| 7 | g.44153435A>G | CA367403731 | GCK | c.*72T>C (n.*72T>C) c.74T>C (p.Leu25Pro) n.560T>C c.77T>C (p.Leu26Pro) c.71T>C (p.Leu24Pro) n.509T>C | |
| 7 | g.44153435A>T | CA16609255 | GCK | c.*72T>A (n.*72T>A) c.74T>A (p.Leu25Gln) n.560T>A c.77T>A (p.Leu26Gln) c.71T>A (p.Leu24Gln) n.509T>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153436G>A | CA454610668 | GCK | c.*71C>T (n.*71C>T) c.73C>T (p.Leu25=) n.559C>T c.76C>T (p.Leu26=) c.70C>T (p.Leu24=) n.508C>T | |
| 7 | g.44153436G>C | CA367403735 | GCK | c.*71C>G (n.*71C>G) c.73C>G (p.Leu25Val) n.559C>G c.76C>G (p.Leu26Val) c.70C>G (p.Leu24Val) n.508C>G | |
| 7 | g.44153436G>T | CA367403737 | GCK | c.*71C>A (n.*71C>A) c.73C>A (p.Leu25Met) n.559C>A c.76C>A (p.Leu26Met) c.70C>A (p.Leu24Met) n.508C>A | |
| 7 | g.44153437C>A | CA367403739 | GCK | c.*70G>T (n.*70G>T) c.72G>T (p.Gln24His) n.558G>T c.75G>T (p.Gln25His) c.69G>T (p.Gln23His) n.507G>T | COSMIC COSMIC COSMIC |
| 7 | g.44153437C= | CA1703637577 | GCK | c.*70G= (n.*70G=) c.72G= (p.Gln24=) n.558G= c.75G= (p.Gln25=) c.69G= (p.Gln23=) n.507G= | |
| 7 | g.44153437C>G | CA367403741 | GCK | c.*70G>C (n.*70G>C) c.72G>C (p.Gln24His) n.558G>C c.75G>C (p.Gln25His) c.69G>C (p.Gln23His) n.507G>C | dbSNP |
| 7 | g.44153437C>T | CA454610669 | GCK | c.*70G>A (n.*70G>A) c.72G>A (p.Gln24=) n.558G>A c.75G>A (p.Gln25=) c.69G>A (p.Gln23=) n.507G>A | COSMIC COSMIC COSMIC |
| 7 | g.44153438T>A | CA367403745 | GCK | c.*69A>T (n.*69A>T) c.71A>T (p.Gln24Leu) n.557A>T c.74A>T (p.Gln25Leu) c.68A>T (p.Gln23Leu) n.506A>T | |
| 7 | g.44153438T>C | CA367403746 | GCK | c.*69A>G (n.*69A>G) c.71A>G (p.Gln24Arg) n.557A>G c.74A>G (p.Gln25Arg) c.68A>G (p.Gln23Arg) n.506A>G | |
| 7 | g.44153438T>G | CA367403748 | GCK | c.*69A>C (n.*69A>C) c.71A>C (p.Gln24Pro) n.557A>C c.74A>C (p.Gln25Pro) c.68A>C (p.Gln23Pro) n.506A>C | gnomAD v4 |
| 7 | g.44153439G>A | CA367403752 | GCK | c.*68C>T (n.*68C>T) c.70C>T (p.Gln24Ter) n.556C>T c.73C>T (p.Gln25Ter) c.67C>T (p.Gln23Ter) n.505C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153439G>C | CA367403754 | GCK | c.*68C>G (n.*68C>G) c.70C>G (p.Gln24Glu) n.556C>G c.73C>G (p.Gln25Glu) c.67C>G (p.Gln23Glu) n.505C>G | |
| 7 | g.44153439G= | CA1703637578 | GCK | c.*68C= (n.*68C=) c.70C= (p.Gln24=) n.556C= c.73C= (p.Gln25=) c.67C= (p.Gln23=) n.505C= | |
| 7 | g.44153439G>T | CA367403756 | GCK | c.*68C>A (n.*68C>A) c.70C>A (p.Gln24Lys) n.556C>A c.73C>A (p.Gln25Lys) c.67C>A (p.Gln23Lys) n.505C>A | |
| 7 | g.44153440G>A | CA454610671 | GCK | c.*67C>T (n.*67C>T) c.69C>T (p.Phe23=) n.555C>T c.72C>T (p.Phe24=) c.66C>T (p.Phe22=) n.504C>T | |
| 7 | g.44153440G>C | CA367403759 | GCK | c.*67C>G (n.*67C>G) c.69C>G (p.Phe23Leu) n.555C>G c.72C>G (p.Phe24Leu) c.66C>G (p.Phe22Leu) n.504C>G | |
| 7 | g.44153440G>T | CA367403760 | GCK | c.*67C>A (n.*67C>A) c.69C>A (p.Phe23Leu) n.555C>A c.72C>A (p.Phe24Leu) c.66C>A (p.Phe22Leu) n.504C>A | |
| 7 | g.44153441A>C | CA367403762 | GCK | c.*66T>G (n.*66T>G) c.68T>G (p.Phe23Cys) n.554T>G c.71T>G (p.Phe24Cys) c.65T>G (p.Phe22Cys) n.503T>G | |
| 7 | g.44153441A>G | CA367403763 | GCK | c.*66T>C (n.*66T>C) c.68T>C (p.Phe23Ser) n.554T>C c.71T>C (p.Phe24Ser) c.65T>C (p.Phe22Ser) n.503T>C | |
| 7 | g.44153441A>T | CA367403765 | GCK | c.*66T>A (n.*66T>A) c.68T>A (p.Phe23Tyr) n.554T>A c.71T>A (p.Phe24Tyr) c.65T>A (p.Phe22Tyr) n.503T>A | |
| 7 | g.44153442A>C | CA367403773 | GCK | c.*65T>G (n.*65T>G) c.67T>G (p.Phe23Val) n.553T>G c.70T>G (p.Phe24Val) c.64T>G (p.Phe22Val) n.502T>G | |
| 7 | g.44153442A>G | CA367403768 | GCK | c.*65T>C (n.*65T>C) c.67T>C (p.Phe23Leu) n.553T>C c.70T>C (p.Phe24Leu) c.64T>C (p.Phe22Leu) n.502T>C | |
| 7 | g.44153442A>T | CA367403771 | GCK | c.*65T>A (n.*65T>A) c.67T>A (p.Phe23Ile) n.553T>A c.70T>A (p.Phe24Ile) c.64T>A (p.Phe22Ile) n.502T>A | |
| 7 | g.44153443C>A | CA367403776 | GCK | c.*64G>T (n.*64G>T) c.66G>T (p.Glu22Asp) n.552G>T c.69G>T (p.Glu23Asp) c.63G>T (p.Glu21Asp) n.501G>T | |
| 7 | g.44153443C>G | CA367403777 | GCK | c.*64G>C (n.*64G>C) c.66G>C (p.Glu22Asp) n.552G>C c.69G>C (p.Glu23Asp) c.63G>C (p.Glu21Asp) n.501G>C | |
| 7 | g.44153443C>T | CA454610672 | GCK | c.*64G>A (n.*64G>A) c.66G>A (p.Glu22=) n.552G>A c.69G>A (p.Glu23=) c.63G>A (p.Glu21=) n.501G>A | |
| 7 | g.44153444T>A | CA367403779 | GCK | c.*63A>T (n.*63A>T) c.65A>T (p.Glu22Val) n.551A>T c.68A>T (p.Glu23Val) c.62A>T (p.Glu21Val) n.500A>T | |
| 7 | g.44153444T>C | CA367403782 | GCK | c.*63A>G (n.*63A>G) c.65A>G (p.Glu22Gly) n.551A>G c.68A>G (p.Glu23Gly) c.62A>G (p.Glu21Gly) n.500A>G | dbSNP gnomAD v4 |
| 7 | g.44153444T>G | CA367403783 | GCK | c.*63A>C (n.*63A>C) c.65A>C (p.Glu22Ala) n.551A>C c.68A>C (p.Glu23Ala) c.62A>C (p.Glu21Ala) n.500A>C | |
| 7 | g.44153444T= | CA1703637579 | GCK | c.*63A= (n.*63A=) c.65A= (p.Glu22=) n.551A= c.68A= (p.Glu23=) c.62A= (p.Glu21=) n.500A= | |
| 7 | g.44153445C>A | CA367403784 | GCK | c.*62G>T (n.*62G>T) c.64G>T (p.Glu22Ter) n.550G>T c.67G>T (p.Glu23Ter) c.61G>T (p.Glu21Ter) n.499G>T | |
| 7 | g.44153445C>G | CA367403787 | GCK | c.*62G>C (n.*62G>C) c.64G>C (p.Glu22Gln) n.550G>C c.67G>C (p.Glu23Gln) c.61G>C (p.Glu21Gln) n.499G>C | gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44153445C>T | CA367403789 | GCK | c.*62G>A (n.*62G>A) c.64G>A (p.Glu22Lys) n.550G>A c.67G>A (p.Glu23Lys) c.61G>A (p.Glu21Lys) n.499G>A | gnomAD v4 |
| 7 | g.44153446T>A | CA454610673 | GCK | c.*61A>T (n.*61A>T) c.63A>T (p.Ala21=) n.549A>T c.66A>T (p.Ala22=) c.60A>T (p.Ala20=) n.498A>T | |
| 7 | g.44153446T>C | CA454610674 | GCK | c.*61A>G (n.*61A>G) c.63A>G (p.Ala21=) n.549A>G c.66A>G (p.Ala22=) c.60A>G (p.Ala20=) n.498A>G | |
| 7 | g.44153446T>G | CA454610675 | GCK | c.*61A>C (n.*61A>C) c.63A>C (p.Ala21=) n.549A>C c.66A>C (p.Ala22=) c.60A>C (p.Ala20=) n.498A>C | |
| 7 | g.44153447G>A | CA367403791 | GCK | c.*60C>T (n.*60C>T) c.62C>T (p.Ala21Val) n.548C>T c.65C>T (p.Ala22Val) c.59C>T (p.Ala20Val) n.497C>T | COSMIC COSMIC COSMIC |
| 7 | g.44153447G>C | CA367403794 | GCK | c.*60C>G (n.*60C>G) c.62C>G (p.Ala21Gly) n.548C>G c.65C>G (p.Ala22Gly) c.59C>G (p.Ala20Gly) n.497C>G | |
| 7 | g.44153447G>T | CA367403796 | GCK | c.*60C>A (n.*60C>A) c.62C>A (p.Ala21Glu) n.548C>A c.65C>A (p.Ala22Glu) c.59C>A (p.Ala20Glu) n.497C>A | |
| 7 | g.44153448C>A | CA367403798 | GCK | c.*59G>T (n.*59G>T) c.61G>T (p.Ala21Ser) n.547G>T c.64G>T (p.Ala22Ser) c.58G>T (p.Ala20Ser) n.496G>T | |
| 7 | g.44153448C>G | CA367403802 | GCK | c.*59G>C (n.*59G>C) c.61G>C (p.Ala21Pro) n.547G>C c.64G>C (p.Ala22Pro) c.58G>C (p.Ala20Pro) n.496G>C | |
| 7 | g.44153448C>T | CA367403799 | GCK | c.*59G>A (n.*59G>A) c.61G>A (p.Ala21Thr) n.547G>A c.64G>A (p.Ala22Thr) c.58G>A (p.Ala20Thr) n.496G>A | |
| 7 | g.44153449C>A | CA454610676 | GCK | c.*58G>T (n.*58G>T) c.60G>T (p.Leu20=) n.546G>T c.63G>T (p.Leu21=) c.57G>T (p.Leu19=) n.495G>T | |
| 7 | g.44153449C>G | CA454610677 | GCK | c.*58G>C (n.*58G>C) c.60G>C (p.Leu20=) n.546G>C c.63G>C (p.Leu21=) c.57G>C (p.Leu19=) n.495G>C | |
| 7 | g.44153449C>T | CA454610678 | GCK | c.*58G>A (n.*58G>A) c.60G>A (p.Leu20=) n.546G>A c.63G>A (p.Leu21=) c.57G>A (p.Leu19=) n.495G>A | |
| 7 | g.44153450A>C | CA367403804 | GCK | c.*57T>G (n.*57T>G) c.59T>G (p.Leu20Arg) n.545T>G c.62T>G (p.Leu21Arg) c.56T>G (p.Leu19Arg) n.494T>G | |
| 7 | g.44153450A>G | CA367403809 | GCK | c.*57T>C (n.*57T>C) c.59T>C (p.Leu20Pro) n.545T>C c.62T>C (p.Leu21Pro) c.56T>C (p.Leu19Pro) n.494T>C | ClinVar |
| 7 | g.44153450A>T | CA367403806 | GCK | c.*57T>A (n.*57T>A) c.59T>A (p.Leu20Gln) n.545T>A c.62T>A (p.Leu21Gln) c.56T>A (p.Leu19Gln) n.494T>A | gnomAD v4 |
| 7 | g.44153451G>A | CA454610679 | GCK | c.*56C>T (n.*56C>T) c.58C>T (p.Leu20=) n.544C>T c.61C>T (p.Leu21=) c.55C>T (p.Leu19=) n.493C>T | COSMIC COSMIC COSMIC |
| 7 | g.44153451G>C | CA367403812 | GCK | c.*56C>G (n.*56C>G) c.58C>G (p.Leu20Val) n.544C>G c.61C>G (p.Leu21Val) c.55C>G (p.Leu19Val) n.493C>G | |
| 7 | g.44153451G>T | CA367403814 | GCK | c.*56C>A (n.*56C>A) c.58C>A (p.Leu20Met) n.544C>A c.61C>A (p.Leu21Met) c.55C>A (p.Leu19Met) n.493C>A | |
| 7 | g.44153452G>A | CA454610680 | GCK | c.*55C>T (n.*55C>T) c.57C>T (p.Ile19=) n.543C>T c.60C>T (p.Ile20=) c.54C>T (p.Ile18=) n.492C>T | dbSNP |
| 7 | g.44153452G>C | CA213804 | GCK | c.*55C>G (n.*55C>G) c.57C>G (p.Ile19Met) n.543C>G c.60C>G (p.Ile20Met) c.54C>G (p.Ile18Met) n.492C>G | ClinVar dbSNP |
| 7 | g.44153452G= | CA1703637580 | GCK | c.*55C= (n.*55C=) c.57C= (p.Ile19=) n.543C= c.60C= (p.Ile20=) c.54C= (p.Ile18=) n.492C= | |
| 7 | g.44153452G>T | CA454610681 | GCK | c.*55C>A (n.*55C>A) c.57C>A (p.Ile19=) n.543C>A c.60C>A (p.Ile20=) c.54C>A (p.Ile18=) n.492C>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153453A>C | CA367403818 | GCK | c.*54T>G (n.*54T>G) c.56T>G (p.Ile19Ser) n.542T>G c.59T>G (p.Ile20Ser) c.53T>G (p.Ile18Ser) n.491T>G | |
| 7 | g.44153453A>G | CA367403821 | GCK | c.*54T>C (n.*54T>C) c.56T>C (p.Ile19Thr) n.542T>C c.59T>C (p.Ile20Thr) c.53T>C (p.Ile18Thr) n.491T>C | |
| 7 | g.44153453A>T | CA367403826 | GCK | c.*54T>A (n.*54T>A) c.56T>A (p.Ile19Asn) n.542T>A c.59T>A (p.Ile20Asn) c.53T>A (p.Ile18Asn) n.491T>A | ClinVar gnomAD v4 |
| 7 | g.44153454T>A | CA367403834 | GCK | c.*53A>T (n.*53A>T) c.55A>T (p.Ile19Phe) n.541A>T c.58A>T (p.Ile20Phe) c.52A>T (p.Ile18Phe) n.490A>T | |
| 7 | g.44153454T>C | CA367403830 | GCK | c.*53A>G (n.*53A>G) c.55A>G (p.Ile19Val) n.541A>G c.58A>G (p.Ile20Val) c.52A>G (p.Ile18Val) n.490A>G | |
| 7 | g.44153454T>G | CA367403831 | GCK | c.*53A>C (n.*53A>C) c.55A>C (p.Ile19Leu) n.541A>C c.58A>C (p.Ile20Leu) c.52A>C (p.Ile18Leu) n.490A>C | |
| 7 | g.44153455C>A | CA367403838 | GCK | c.*52G>T (n.*52G>T) c.54G>T (p.Gln18His) n.540G>T c.57G>T (p.Gln19His) c.51G>T (p.Gln17His) n.489G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.44153455C= | CA1703637581 | GCK | c.*52G= (n.*52G=) c.54G= (p.Gln18=) n.540G= c.57G= (p.Gln19=) c.51G= (p.Gln17=) n.489G= | |
| 7 | g.44153455C>G | CA367403840 | GCK | c.*52G>C (n.*52G>C) c.54G>C (p.Gln18His) n.540G>C c.57G>C (p.Gln19His) c.51G>C (p.Gln17His) n.489G>C | |
| 7 | g.44153455C>T | CA454610682 | GCK | c.*52G>A (n.*52G>A) c.54G>A (p.Gln18=) n.540G>A c.57G>A (p.Gln19=) c.51G>A (p.Gln17=) n.489G>A | gnomAD v4 |
| 7 | g.44153459_44153467del | CA2697557255 | GCK | c.*44_*52del c.46_54del n.532_540del c.49_57del c.43_51del n.481_489del | ClinVar |
| 7 | g.44153456del | CA2582341645 | GCK | c.*51del (n.*51del) c.53del (p.Gln18ArgfsTer13) n.539del c.56del (p.Gln19ArgfsTer13) c.50del (p.Gln17ArgfsTer13) n.488del | ClinVar |
| 7 | g.44153456T>A | CA367403842 | GCK | c.*51A>T (n.*51A>T) c.53A>T (p.Gln18Leu) n.539A>T c.56A>T (p.Gln19Leu) c.50A>T (p.Gln17Leu) n.488A>T | |
| 7 | g.44153456T>C | CA4239721 | GCK | c.*51A>G (n.*51A>G) c.53A>G (p.Gln18Arg) n.539A>G c.56A>G (p.Gln19Arg) c.50A>G (p.Gln17Arg) n.488A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44153456T>G | CA367403845 | GCK | c.*51A>C (n.*51A>C) c.53A>C (p.Gln18Pro) n.539A>C c.56A>C (p.Gln19Pro) c.50A>C (p.Gln17Pro) n.488A>C | |
| 7 | g.44153456T= | CA1703637582 | GCK | c.*51A= (n.*51A=) c.53A= (p.Gln18=) n.539A= c.56A= (p.Gln19=) c.50A= (p.Gln17=) n.488A= | |
| 7 | g.44153457G>A | CA367403853 | GCK | c.*50C>T (n.*50C>T) c.52C>T (p.Gln18Ter) n.538C>T c.55C>T (p.Gln19Ter) c.49C>T (p.Gln17Ter) n.487C>T | ClinVar dbSNP |
| 7 | g.44153457G>C | CA367403848 | GCK | c.*50C>G (n.*50C>G) c.52C>G (p.Gln18Glu) n.538C>G c.55C>G (p.Gln19Glu) c.49C>G (p.Gln17Glu) n.487C>G | |
| 7 | g.44153457G= | CA1703637583 | GCK | c.*50C= (n.*50C=) c.52C= (p.Gln18=) n.538C= c.55C= (p.Gln19=) c.49C= (p.Gln17=) n.487C= | |
| 7 | g.44153457G>T | CA367403851 | GCK | c.*50C>A (n.*50C>A) c.52C>A (p.Gln18Lys) n.538C>A c.55C>A (p.Gln19Lys) c.49C>A (p.Gln17Lys) n.487C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153458C>A | CA367403856 | GCK | c.*49G>T (n.*49G>T) c.51G>T (p.Glu17Asp) n.537G>T c.54G>T (p.Glu18Asp) c.48G>T (p.Glu16Asp) n.486G>T | |
| 7 | g.44153458C= | CA1703637584 | GCK | c.*49G= (n.*49G=) c.51G= (p.Glu17=) n.537G= c.54G= (p.Glu18=) c.48G= (p.Glu16=) n.486G= | |
| 7 | g.44153458C>G | CA367403858 | GCK | c.*49G>C (n.*49G>C) c.51G>C (p.Glu17Asp) n.537G>C c.54G>C (p.Glu18Asp) c.48G>C (p.Glu16Asp) n.486G>C | |
| 7 | g.44153458C>T | CA454610683 | GCK | c.*49G>A (n.*49G>A) c.51G>A (p.Glu17=) n.537G>A c.54G>A (p.Glu18=) c.48G>A (p.Glu16=) n.486G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153459T>A | CA367403859 | GCK | c.*48A>T (n.*48A>T) c.50A>T (p.Glu17Val) n.536A>T c.53A>T (p.Glu18Val) c.47A>T (p.Glu16Val) n.485A>T | |
| 7 | g.44153459T>C | CA157920081 | GCK | c.*48A>G (n.*48A>G) c.50A>G (p.Glu17Gly) n.536A>G c.53A>G (p.Glu18Gly) c.47A>G (p.Glu16Gly) n.485A>G | dbSNP |
| 7 | g.44153459T>G | CA367403862 | GCK | c.*48A>C (n.*48A>C) c.50A>C (p.Glu17Ala) n.536A>C c.53A>C (p.Glu18Ala) c.47A>C (p.Glu16Ala) n.485A>C | |
| 7 | g.44153459T= | CA1703637585 | GCK | c.*48A= (n.*48A=) c.50A= (p.Glu17=) n.536A= c.53A= (p.Glu18=) c.47A= (p.Glu16=) n.485A= | |
| 7 | g.44153459_44153461del | CA2573142156 | GCK | c.*46_*48del (n.*46_*48del) c.48_50del (p.Glu17del) n.534_536del c.51_53del (p.Glu18del) c.45_47del (p.Glu16del) n.483_485del | ClinVar dbSNP |
| 7 | g.44153460C>A | CA367403863 | GCK | c.*47G>T (n.*47G>T) c.49G>T (p.Glu17Ter) n.535G>T c.52G>T (p.Glu18Ter) c.46G>T (p.Glu16Ter) n.484G>T | |
| 7 | g.44153460C= | CA1703637586 | GCK | c.*47G= (n.*47G=) c.49G= (p.Glu17=) n.535G= c.52G= (p.Glu18=) c.46G= (p.Glu16=) n.484G= | |
| 7 | g.44153460C>G | CA367403866 | GCK | c.*47G>C (n.*47G>C) c.49G>C (p.Glu17Gln) n.535G>C c.52G>C (p.Glu18Gln) c.46G>C (p.Glu16Gln) n.484G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153460C>T | CA367403868 | GCK | c.*47G>A (n.*47G>A) c.49G>A (p.Glu17Lys) n.535G>A c.52G>A (p.Glu18Lys) c.46G>A (p.Glu16Lys) n.484G>A | gnomAD v4 |
| 7 | g.44153461T>A | CA454610684 | GCK | c.*46A>T (n.*46A>T) c.48A>T (p.Val16=) n.534A>T c.51A>T (p.Val17=) c.45A>T (p.Val15=) n.483A>T | |
| 7 | g.44153461T>C | CA157920082 | GCK | c.*46A>G (n.*46A>G) c.48A>G (p.Val16=) n.534A>G c.51A>G (p.Val17=) c.45A>G (p.Val15=) n.483A>G | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153461T>G | CA454610685 | GCK | c.*46A>C (n.*46A>C) c.48A>C (p.Val16=) n.534A>C c.51A>C (p.Val17=) c.45A>C (p.Val15=) n.483A>C | |
| 7 | g.44153461T= | CA1703637587 | GCK | c.*46A= (n.*46A=) c.48A= (p.Val16=) n.534A= c.51A= (p.Val17=) c.45A= (p.Val15=) n.483A= | |
| 7 | g.44153462A= | CA1703637588 | GCK | c.*45T= (n.*45T=) c.47T= (p.Val16=) n.533T= c.50T= (p.Val17=) c.44T= (p.Val15=) n.482T= | |
| 7 | g.44153462A>C | CA367403872 | GCK | c.*45T>G (n.*45T>G) c.47T>G (p.Val16Gly) n.533T>G c.50T>G (p.Val17Gly) c.44T>G (p.Val15Gly) n.482T>G | dbSNP gnomAD v4 |
| 7 | g.44153462A>G | CA367403873 | GCK | c.*45T>C (n.*45T>C) c.47T>C (p.Val16Ala) n.533T>C c.50T>C (p.Val17Ala) c.44T>C (p.Val15Ala) n.482T>C | gnomAD v4 |
| 7 | g.44153462A>T | CA367403876 | GCK | c.*45T>A (n.*45T>A) c.47T>A (p.Val16Glu) n.533T>A c.50T>A (p.Val17Glu) c.44T>A (p.Val15Glu) n.482T>A | |
| 7 | g.44153463C>A | CA367403879 | GCK | c.*44G>T (n.*44G>T) c.46G>T (p.Val16Leu) n.532G>T c.49G>T (p.Val17Leu) c.43G>T (p.Val15Leu) n.481G>T | |
| 7 | g.44153463C>G | CA367403883 | GCK | c.*44G>C (n.*44G>C) c.46G>C (p.Val16Leu) n.532G>C c.49G>C (p.Val17Leu) c.43G>C (p.Val15Leu) n.481G>C | |
| 7 | g.44153463C>T | CA367403880 | GCK | c.*44G>A (n.*44G>A) c.46G>A (p.Val16Ile) n.532G>A c.49G>A (p.Val17Ile) c.43G>A (p.Val15Ile) n.481G>A | |
| 7 | g.44153464C>A | CA367403885 | GCK | c.*44-1G>T (n.*44-1G>T) c.46-1G>T (n.46-1G>T) n.532-1G>T c.49-1G>T (n.49-1G>T) c.43-1G>T (n.43-1G>T) n.481-1G>T | |
| 7 | g.44153464C>G | CA367403887 | GCK | c.*44-1G>C (n.*44-1G>C) c.46-1G>C (n.46-1G>C) n.532-1G>C c.49-1G>C (n.49-1G>C) c.43-1G>C (n.43-1G>C) n.481-1G>C | |
| 7 | g.44153464C>T | CA367403889 | GCK | c.*44-1G>A (n.*44-1G>A) c.46-1G>A (n.46-1G>A) n.532-1G>A c.49-1G>A (n.49-1G>A) c.43-1G>A (n.43-1G>A) n.481-1G>A | ClinVar gnomAD v4 |
| 7 | g.44153465T>A | CA367403892 | GCK | c.*44-2A>T (n.*44-2A>T) c.46-2A>T (n.46-2A>T) n.532-2A>T c.49-2A>T (n.49-2A>T) c.43-2A>T (n.43-2A>T) n.481-2A>T | |
| 7 | g.44153465T>C | CA367403894 | GCK | c.*44-2A>G (n.*44-2A>G) c.46-2A>G (n.46-2A>G) n.532-2A>G c.49-2A>G (n.49-2A>G) c.43-2A>G (n.43-2A>G) n.481-2A>G | ClinVar dbSNP |
| 7 | g.44153465T>G | CA367403897 | GCK | c.*44-2A>C (n.*44-2A>C) c.46-2A>C (n.46-2A>C) n.532-2A>C c.49-2A>C (n.49-2A>C) c.43-2A>C (n.43-2A>C) n.481-2A>C | gnomAD v4 |
| 7 | g.44153465T= | CA1703637589 | GCK | c.*44-2A= (n.*44-2A=) c.46-2A= (n.46-2A=) n.532-2A= c.49-2A= (n.49-2A=) c.43-2A= (n.43-2A=) n.481-2A= | |
| 7 | g.44153466G>A | CA574226473 | GCK | c.*44-3C>T (n.*44-3C>T) c.46-3C>T (n.46-3C>T) n.532-3C>T c.49-3C>T (n.49-3C>T) c.43-3C>T (n.43-3C>T) n.481-3C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153466G>C | CA2573142157 | GCK | c.*44-3C>G (n.*44-3C>G) c.46-3C>G (n.46-3C>G) n.532-3C>G c.49-3C>G (n.49-3C>G) c.43-3C>G (n.43-3C>G) n.481-3C>G | ClinVar dbSNP |
| 7 | g.44153466G= | CA1703637590 | GCK | c.*44-3C= (n.*44-3C=) c.46-3C= (n.46-3C=) n.532-3C= c.49-3C= (n.49-3C=) c.43-3C= (n.43-3C=) n.481-3C= | |
| 7 | g.44153467C>T | CA2682576811 | GCK | c.*44-4G>A (n.*44-4G>A) c.46-4G>A (n.46-4G>A) n.532-4G>A c.49-4G>A (n.49-4G>A) c.43-4G>A (n.43-4G>A) n.481-4G>A | gnomAD v4 |
| 7 | g.44153468A= | CA1703637591 | GCK | c.*44-5T= (n.*44-5T=) c.46-5T= (n.46-5T=) n.532-5T= c.49-5T= (n.49-5T=) c.43-5T= (n.43-5T=) n.481-5T= | |
| 7 | g.44153468A>G | CA1703637592 | GCK | c.*44-5T>C (n.*44-5T>C) c.46-5T>C (n.46-5T>C) n.532-5T>C c.49-5T>C (n.49-5T>C) c.43-5T>C (n.43-5T>C) n.481-5T>C | dbSNP gnomAD v4 |
| 7 | g.44153469C= | CA1703637593 | GCK | c.*44-6G= (n.*44-6G=) c.46-6G= (n.46-6G=) n.532-6G= c.49-6G= (n.49-6G=) c.43-6G= (n.43-6G=) n.481-6G= | |
| 7 | g.44153469C>G | CA2682576814 | GCK | c.*44-6G>C (n.*44-6G>C) c.46-6G>C (n.46-6G>C) n.532-6G>C c.49-6G>C (n.49-6G>C) c.43-6G>C (n.43-6G>C) n.481-6G>C | gnomAD v4 |
| 7 | g.44153469C>T | CA1703637594 | GCK | c.*44-6G>A (n.*44-6G>A) c.46-6G>A (n.46-6G>A) n.532-6G>A c.49-6G>A (n.49-6G>A) c.43-6G>A (n.43-6G>A) n.481-6G>A | dbSNP gnomAD v4 |
| 7 | g.44153470A>C | CA2682576816 | GCK | c.*44-7T>G (n.*44-7T>G) c.46-7T>G (n.46-7T>G) n.532-7T>G c.49-7T>G (n.49-7T>G) c.43-7T>G (n.43-7T>G) n.481-7T>G | gnomAD v4 |
| 7 | g.44153470A>G | CA2682576817 | GCK | c.*44-7T>C (n.*44-7T>C) c.46-7T>C (n.46-7T>C) n.532-7T>C c.49-7T>C (n.49-7T>C) c.43-7T>C (n.43-7T>C) n.481-7T>C | gnomAD v4 |
| 7 | g.44153470A>T | CA2578878541 | GCK | c.*44-7T>A (n.*44-7T>A) c.46-7T>A (n.46-7T>A) n.532-7T>A c.49-7T>A (n.49-7T>A) c.43-7T>A (n.43-7T>A) n.481-7T>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153471G>A | CA2682576819 | GCK | c.*44-8C>T (n.*44-8C>T) c.46-8C>T (n.46-8C>T) n.532-8C>T c.49-8C>T (n.49-8C>T) c.43-8C>T (n.43-8C>T) n.481-8C>T | gnomAD v4 |
| 7 | g.44153471G>T | CA2682576820 | GCK | c.*44-8C>A (n.*44-8C>A) c.46-8C>A (n.46-8C>A) n.532-8C>A c.49-8C>A (n.49-8C>A) c.43-8C>A (n.43-8C>A) n.481-8C>A | gnomAD v4 |
| 7 | g.44153472G>C | CA2682576821 | GCK | c.*44-9C>G (n.*44-9C>G) c.46-9C>G (n.46-9C>G) n.532-9C>G c.49-9C>G (n.49-9C>G) c.43-9C>G (n.43-9C>G) n.481-9C>G | gnomAD v4 |
| 7 | g.44153473G>A | CA574226475 | GCK | c.*44-10C>T (n.*44-10C>T) c.46-10C>T (n.46-10C>T) n.532-10C>T c.49-10C>T (n.49-10C>T) c.43-10C>T (n.43-10C>T) n.481-10C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153473G= | CA1703637595 | GCK | c.*44-10C= (n.*44-10C=) c.46-10C= (n.46-10C=) n.532-10C= c.49-10C= (n.49-10C=) c.43-10C= (n.43-10C=) n.481-10C= | |
| 7 | g.44153473G>T | CA2682576823 | GCK | c.*44-10C>A (n.*44-10C>A) c.46-10C>A (n.46-10C>A) n.532-10C>A c.49-10C>A (n.49-10C>A) c.43-10C>A (n.43-10C>A) n.481-10C>A | gnomAD v4 |
| 7 | g.44153474A>T | CA1100761837 | GCK | c.*44-11T>A (n.*44-11T>A) c.46-11T>A (n.46-11T>A) n.532-11T>A c.49-11T>A (n.49-11T>A) c.43-11T>A (n.43-11T>A) n.481-11T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153474_44153478delinsCCCTCCC | CA2695203033 | GCK | c.*44-15_*44-11delinsGGGAGGG (n.*44-15_*44-11delinsGGGAGGG) c.46-15_46-11delinsGGGAGGG (n.46-15_46-11delinsGGGAGGG) n.532-15_532-11delinsGGGAGGG c.49-15_49-11delinsGGGAGGG (n.49-15_49-11delinsGGGAGGG) c.43-15_43-11delinsGGGAGGG (n.43-15_43-11delinsGGGAGGG) n.481-15_481-11delinsGGGAGGG | |
| 7 | g.44153475G>A | CA208518 | GCK | c.*44-12C>T (n.*44-12C>T) c.46-12C>T (n.46-12C>T) n.532-12C>T c.49-12C>T (n.49-12C>T) c.43-12C>T (n.43-12C>T) n.481-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153475G= | CA1703637596 | GCK | c.*44-12C= (n.*44-12C=) c.46-12C= (n.46-12C=) n.532-12C= c.49-12C= (n.49-12C=) c.43-12C= (n.43-12C=) n.481-12C= | |
| 7 | g.44153476G>C | CA157920087 | GCK | c.*44-13C>G (n.*44-13C>G) c.46-13C>G (n.46-13C>G) n.532-13C>G c.49-13C>G (n.49-13C>G) c.43-13C>G (n.43-13C>G) n.481-13C>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44153476G= | CA1703637597 | GCK | c.*44-13C= (n.*44-13C=) c.46-13C= (n.46-13C=) n.532-13C= c.49-13C= (n.49-13C=) c.43-13C= (n.43-13C=) n.481-13C= | |
| 7 | g.44153477G>A | CA2578878542 | GCK | c.*44-14C>T (n.*44-14C>T) c.46-14C>T (n.46-14C>T) n.532-14C>T c.49-14C>T (n.49-14C>T) c.43-14C>T (n.43-14C>T) n.481-14C>T | |
| 7 | g.44153477G>C | CA2682576833 | GCK | c.*44-14C>G (n.*44-14C>G) c.46-14C>G (n.46-14C>G) n.532-14C>G c.49-14C>G (n.49-14C>G) c.43-14C>G (n.43-14C>G) n.481-14C>G | gnomAD v4 |
| 7 | g.44153477G>T | CA2740097356 | GCK | c.*44-14C>A (n.*44-14C>A) c.46-14C>A (n.46-14C>A) n.532-14C>A c.49-14C>A (n.49-14C>A) c.43-14C>A (n.43-14C>A) n.481-14C>A | ClinVar |
| 7 | g.44153478G>A | CA2682576834 | GCK | c.*44-15C>T (n.*44-15C>T) c.46-15C>T (n.46-15C>T) n.532-15C>T c.49-15C>T (n.49-15C>T) c.43-15C>T (n.43-15C>T) n.481-15C>T | gnomAD v4 |
| 7 | g.44153479G>A | CA2682576837 | GCK | c.*44-16C>T (n.*44-16C>T) c.46-16C>T (n.46-16C>T) n.532-16C>T c.49-16C>T (n.49-16C>T) c.43-16C>T (n.43-16C>T) n.481-16C>T | gnomAD v4 |
| 7 | g.44153479G>C | CA2682576836 | GCK | c.*44-16C>G (n.*44-16C>G) c.46-16C>G (n.46-16C>G) n.532-16C>G c.49-16C>G (n.49-16C>G) c.43-16C>G (n.43-16C>G) n.481-16C>G | gnomAD v4 |
| 7 | g.44153479G>T | CA2682576835 | GCK | c.*44-16C>A (n.*44-16C>A) c.46-16C>A (n.46-16C>A) n.532-16C>A c.49-16C>A (n.49-16C>A) c.43-16C>A (n.43-16C>A) n.481-16C>A | gnomAD v4 |
| 7 | g.44153479_44153480del | CA2682576838 | GCK | c.*44-17_*44-16del (n.*44-17_*44-16del) c.46-17_46-16del (n.46-17_46-16del) n.532-17_532-16del c.49-17_49-16del (n.49-17_49-16del) c.43-17_43-16del (n.43-17_43-16del) n.481-17_481-16del | gnomAD v4 |
| 7 | g.44153480A= | CA1703637598 | GCK | c.*44-17T= (n.*44-17T=) c.46-17T= (n.46-17T=) n.532-17T= c.49-17T= (n.49-17T=) c.43-17T= (n.43-17T=) n.481-17T= | |
| 7 | g.44153480A>G | CA2775231731 | GCK | c.*44-17T>C (n.*44-17T>C) c.46-17T>C (n.46-17T>C) n.532-17T>C c.49-17T>C (n.49-17T>C) c.43-17T>C (n.43-17T>C) n.481-17T>C | |
| 7 | g.44153480A>T | CA574226477 | GCK | c.*44-17T>A (n.*44-17T>A) c.46-17T>A (n.46-17T>A) n.532-17T>A c.49-17T>A (n.49-17T>A) c.43-17T>A (n.43-17T>A) n.481-17T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153481T>G | CA1100761841 | GCK | c.*44-18A>C (n.*44-18A>C) c.46-18A>C (n.46-18A>C) n.532-18A>C c.49-18A>C (n.49-18A>C) c.43-18A>C (n.43-18A>C) n.481-18A>C | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153481T= | CA1703637599 | GCK | c.*44-18A= (n.*44-18A=) c.46-18A= (n.46-18A=) n.532-18A= c.49-18A= (n.49-18A=) c.43-18A= (n.43-18A=) n.481-18A= | |
| 7 | g.44153481_44153482insTG | CA2682576840 | GCK | c.*44-19_*44-18insCA (n.*44-19_*44-18insCA) c.46-19_46-18insCA (n.46-19_46-18insCA) n.532-19_532-18insCA c.49-19_49-18insCA (n.49-19_49-18insCA) c.43-19_43-18insCA (n.43-19_43-18insCA) n.481-19_481-18insCA | gnomAD v4 |
| 7 | g.44153482G>A | CA4239722 | GCK | c.*44-19C>T (n.*44-19C>T) c.46-19C>T (n.46-19C>T) n.532-19C>T c.49-19C>T (n.49-19C>T) c.43-19C>T (n.43-19C>T) n.481-19C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44153482G= | CA1703637600 | GCK | c.*44-19C= (n.*44-19C=) c.46-19C= (n.46-19C=) n.532-19C= c.49-19C= (n.49-19C=) c.43-19C= (n.43-19C=) n.481-19C= | |
| 7 | g.44153483G>A | CA1703637602 | GCK | c.*44-20C>T (n.*44-20C>T) c.46-20C>T (n.46-20C>T) n.532-20C>T c.49-20C>T (n.49-20C>T) c.43-20C>T (n.43-20C>T) n.481-20C>T | dbSNP gnomAD v4 |
| 7 | g.44153483G= | CA1703637601 | GCK | c.*44-20C= (n.*44-20C=) c.46-20C= (n.46-20C=) n.532-20C= c.49-20C= (n.49-20C=) c.43-20C= (n.43-20C=) n.481-20C= | |
| 7 | g.44153483G>T | CA2682576842 | GCK | c.*44-20C>A (n.*44-20C>A) c.46-20C>A (n.46-20C>A) n.532-20C>A c.49-20C>A (n.49-20C>A) c.43-20C>A (n.43-20C>A) n.481-20C>A | gnomAD v4 |
| 7 | g.44153484G>T | CA2682576843 | GCK | c.*44-21C>A (n.*44-21C>A) c.46-21C>A (n.46-21C>A) n.532-21C>A c.49-21C>A (n.49-21C>A) c.43-21C>A (n.43-21C>A) n.481-21C>A | gnomAD v4 |
| 7 | g.44153485A>T | CA2682576845 | GCK | c.*44-22T>A (n.*44-22T>A) c.46-22T>A (n.46-22T>A) n.532-22T>A c.49-22T>A (n.49-22T>A) c.43-22T>A (n.43-22T>A) n.481-22T>A | gnomAD v4 |
| 7 | g.44153486G>A | CA1703637604 | GCK | c.*44-23C>T (n.*44-23C>T) c.46-23C>T (n.46-23C>T) n.532-23C>T c.49-23C>T (n.49-23C>T) c.43-23C>T (n.43-23C>T) n.481-23C>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.44153486G= | CA1703637603 | GCK | c.*44-23C= (n.*44-23C=) c.46-23C= (n.46-23C=) n.532-23C= c.49-23C= (n.49-23C=) c.43-23C= (n.43-23C=) n.481-23C= | |
| 7 | g.44153486G>T | CA2682576847 | GCK | c.*44-23C>A (n.*44-23C>A) c.46-23C>A (n.46-23C>A) n.532-23C>A c.49-23C>A (n.49-23C>A) c.43-23C>A (n.43-23C>A) n.481-23C>A | gnomAD v4 |
| 7 | g.44153486_44153487insAAGCACCCCAACCACACCCCAAACACACCCAA | CA2775231734 | GCK | c.*44-24_*44-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT (n.*44-24_*44-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT) c.46-24_46-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT (n.46-24_46-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT) n.532-24_532-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT c.49-24_49-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT (n.49-24_49-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT) c.43-24_43-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT (n.43-24_43-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT) n.481-24_481-23insTTGGGTGTGTTTGGGGTGTGGTTGGGGTGCTT | |
| 7 | g.44153487C>A | CA2682576848 | GCK | c.*44-24G>T (n.*44-24G>T) c.46-24G>T (n.46-24G>T) n.532-24G>T c.49-24G>T (n.49-24G>T) c.43-24G>T (n.43-24G>T) n.481-24G>T | gnomAD v4 |
| 7 | g.44153487C= | CA1703637605 | GCK | c.*44-24G= (n.*44-24G=) c.46-24G= (n.46-24G=) n.532-24G= c.49-24G= (n.49-24G=) c.43-24G= (n.43-24G=) n.481-24G= | |
| 7 | g.44153487C>G | CA1703637606 | GCK | c.*44-24G>C (n.*44-24G>C) c.46-24G>C (n.46-24G>C) n.532-24G>C c.49-24G>C (n.49-24G>C) c.43-24G>C (n.43-24G>C) n.481-24G>C | dbSNP |
| 7 | g.44153487C>T | CA2682576849 | GCK | c.*44-24G>A (n.*44-24G>A) c.46-24G>A (n.46-24G>A) n.532-24G>A c.49-24G>A (n.49-24G>A) c.43-24G>A (n.43-24G>A) n.481-24G>A | gnomAD v4 |