WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.44145170_44145588del | CA2573142177 | GCK | c.*1163_*1365del c.*285_*487del n.391_593del c.199_401del c.1168_1370del c.1165_1367del c.1228_1430del n.177_379del c.217_419del c.1162_1364del c.1114_1316del n.545_747del c.154_356del c.25_227del | ClinVar |
| 7 | g.44145171_44145250delinsCCGCCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTG | CA1703612651 | GCK | c.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*1282_*1361delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) c.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (n.*404_*483delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG) n.510_589delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.318_397delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg106=) c.1287_1366delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg429=) c.1284_1363delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg428=) c.1347_1426delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg449=) n.296_375delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.336_415delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg112=) c.1281_1360delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg427=) c.1233_1312delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg411=) n.664_743delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG c.273_352delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg91=) c.144_223delinsCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCGGCGG (p.Arg48=) | |
| 7 | g.44145175_44145253del | CA1139660051 | GCK | c.*1282_*1360del (n.*1282_*1360del) c.*404_*482del (n.*404_*482del) n.510_588del c.318_396del (p.Arg107TrpfsTer?) c.1287_1365del (p.Arg430TrpfsTer?) c.1284_1362del (p.Arg429TrpfsTer?) c.1347_1425del (p.Arg450TrpfsTer?) n.296_374del c.1284_1362del (p.Arg429TrpfsTer9) c.336_414del (p.Arg113TrpfsTer?) c.1281_1359del (p.Arg428TrpfsTer?) c.1233_1311del (p.Arg412TrpfsTer?) n.664_742del c.273_351del (p.Arg92TrpfsTer?) c.144_222del (p.Arg49TrpfsTer9) c.144_222del (p.Arg49TrpfsTer?) | ClinVar dbSNP |
| 7 | g.44145175_44145255delinsCGAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCAC | CA1703612657 | GCK | c.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*1277_*1357delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG) c.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (n.*399_*479delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG) n.505_585delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.313_393delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val105=) c.1282_1362delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val428=) c.1279_1359delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val427=) c.1342_1422delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val448=) n.291_371delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.331_411delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val111=) c.1276_1356delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val426=) c.1228_1308delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val410=) n.659_739delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG c.268_348delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val90=) c.139_219delinsGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTTCATCGAGTCGGAGGAGGGCAGTGGCCGGGGCGCGGCCCTGGTCTCG (p.Val47=) | |
| 7 | g.44145176_44145255delinsTGTAA | CA213742 | GCK | c.*1277_*1356delinsTTACA (n.*1277_*1356delinsTTACA) c.*399_*478delinsTTACA (n.*399_*478delinsTTACA) n.505_584delinsTTACA c.313_392delinsTTACA (p.Val105_Ser131delinsLeuGln) c.1282_1361delinsTTACA (p.Val428_Ser454delinsLeuGln) c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln) c.1342_1421delinsTTACA (p.Val448_Ser474delinsLeuGln) n.291_370delinsTTACA c.331_410delinsTTACA (p.Val111_Ser137delinsLeuGln) c.1276_1355delinsTTACA (p.Val426_Ser452delinsLeuGln) c.1228_1307delinsTTACA (p.Val410_Ser436delinsLeuGln) n.659_738delinsTTACA c.268_347delinsTTACA (p.Val90_Ser116delinsLeuGln) c.139_218delinsTTACA (p.Val47_Ser73delinsLeuGln) | ClinVar dbSNP |
| 7 | g.44145221_44145300delinsAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCACGCTGGCATGGAACCGCTCCTTGAAGCTGGGCAGAAGAGAAGCAGG | CA1703612681 | GCK | c.*1252-20_*1311delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.*374-20_*433delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.480-20_539delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.288-20_347delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1257-20_1316delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1254-20_1313delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1317-20_1376delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.266-20_325delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.306-20_365delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1251-20_1310delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.1203-20_1262delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT n.634-20_693delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.243-20_302delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT c.114-20_173delinsCCTGCTTCTCTTCTGCCCAGCTTCAAGGAGCGGTTCCATGCCAGCGTGCGCAGGCTGACGCCCAGCTGCGAGATCACCTT | |
| 7 | g.44145222_44145300del | CA1139660054 | GCK | c.*1252-20_*1310del c.*374-20_*432del n.480-20_538del c.288-20_346del c.1257-20_1315del c.1254-20_1312del c.1317-20_1375del n.266-20_324del c.306-20_364del c.1251-20_1309del c.1203-20_1261del n.634-20_692del c.243-20_301del c.114-20_172del | ClinVar dbSNP |
| 7 | g.44145242_44145248del | CA2695202960 | GCK | c.*1285_*1291del (n.*1285_*1291del) c.*407_*413del (n.*407_*413del) n.513_519del c.321_327del (p.Arg107SerfsTer?) c.1290_1296del (p.Arg430SerfsTer?) c.1287_1293del (p.Arg429SerfsTer?) c.1350_1356del (p.Arg450SerfsTer?) n.299_305del c.339_345del (p.Arg113SerfsTer?) c.1284_1290del (p.Arg428SerfsTer?) c.1236_1242del (p.Arg412SerfsTer?) n.667_673del c.276_282del (p.Arg92SerfsTer?) c.147_153del (p.Arg49SerfsTer?) | |
| 7 | g.44145245_44145247del | CA2695202961 | GCK | c.*1286_*1288del (n.*1286_*1288del) c.*408_*410del (n.*408_*410del) n.514_516del c.322_324del (p.Leu108del) c.1291_1293del (p.Leu431del) c.1288_1290del (p.Leu430del) c.1351_1353del (p.Leu451del) n.300_302del c.340_342del (p.Leu114del) c.1285_1287del (p.Leu429del) c.1237_1239del (p.Leu413del) n.668_670del c.277_279del (p.Leu93del) c.148_150del (p.Leu50del) | |
| 7 | g.44145246G>A | CA213747 | GCK | c.*1286C>T (n.*1286C>T) c.*408C>T (n.*408C>T) n.514C>T c.322C>T (p.Leu108=) c.1291C>T (p.Leu431=) c.1288C>T (p.Leu430=) c.1351C>T (p.Leu451=) n.300C>T c.340C>T (p.Leu114=) c.1285C>T (p.Leu429=) c.1237C>T (p.Leu413=) n.668C>T c.277C>T (p.Leu93=) c.148C>T (p.Leu50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145246G>C | CA367397172 | GCK | c.*1286C>G (n.*1286C>G) c.*408C>G (n.*408C>G) n.514C>G c.322C>G (p.Leu108Val) c.1291C>G (p.Leu431Val) c.1288C>G (p.Leu430Val) c.1351C>G (p.Leu451Val) n.300C>G c.340C>G (p.Leu114Val) c.1285C>G (p.Leu429Val) c.1237C>G (p.Leu413Val) n.668C>G c.277C>G (p.Leu93Val) c.148C>G (p.Leu50Val) | ClinVar |
| 7 | g.44145246G= | CA1703612695 | GCK | c.*1286C= (n.*1286C=) c.*408C= (n.*408C=) n.514C= c.322C= (p.Leu108=) c.1291C= (p.Leu431=) c.1288C= (p.Leu430=) c.1351C= (p.Leu451=) n.300C= c.340C= (p.Leu114=) c.1285C= (p.Leu429=) c.1237C= (p.Leu413=) n.668C= c.277C= (p.Leu93=) c.148C= (p.Leu50=) | |
| 7 | g.44145246G>T | CA367397173 | GCK | c.*1286C>A (n.*1286C>A) c.*408C>A (n.*408C>A) n.514C>A c.322C>A (p.Leu108Met) c.1291C>A (p.Leu431Met) c.1288C>A (p.Leu430Met) c.1351C>A (p.Leu451Met) n.300C>A c.340C>A (p.Leu114Met) c.1285C>A (p.Leu429Met) c.1237C>A (p.Leu413Met) n.668C>A c.277C>A (p.Leu93Met) c.148C>A (p.Leu50Met) | |
| 7 | g.44145247C>A | CA367397175 | GCK | c.*1285G>T (n.*1285G>T) c.*407G>T (n.*407G>T) n.513G>T c.321G>T (p.Arg107Ser) c.1290G>T (p.Arg430Ser) c.1287G>T (p.Arg429Ser) c.1350G>T (p.Arg450Ser) n.299G>T c.339G>T (p.Arg113Ser) c.1284G>T (p.Arg428Ser) c.1236G>T (p.Arg412Ser) n.667G>T c.276G>T (p.Arg92Ser) c.147G>T (p.Arg49Ser) | |
| 7 | g.44145247C= | CA1703612696 | GCK | c.*1285G= (n.*1285G=) c.*407G= (n.*407G=) n.513G= c.321G= (p.Arg107=) c.1290G= (p.Arg430=) c.1287G= (p.Arg429=) c.1350G= (p.Arg450=) n.299G= c.339G= (p.Arg113=) c.1284G= (p.Arg428=) c.1236G= (p.Arg412=) n.667G= c.276G= (p.Arg92=) c.147G= (p.Arg49=) | |
| 7 | g.44145247C>G | CA367397177 | GCK | c.*1285G>C (n.*1285G>C) c.*407G>C (n.*407G>C) n.513G>C c.321G>C (p.Arg107Ser) c.1290G>C (p.Arg430Ser) c.1287G>C (p.Arg429Ser) c.1350G>C (p.Arg450Ser) n.299G>C c.339G>C (p.Arg113Ser) c.1284G>C (p.Arg428Ser) c.1236G>C (p.Arg412Ser) n.667G>C c.276G>C (p.Arg92Ser) c.147G>C (p.Arg49Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145247C>T | CA454606693 | GCK | c.*1285G>A (n.*1285G>A) c.*407G>A (n.*407G>A) n.513G>A c.321G>A (p.Arg107=) c.1290G>A (p.Arg430=) c.1287G>A (p.Arg429=) c.1350G>A (p.Arg450=) n.299G>A c.339G>A (p.Arg113=) c.1284G>A (p.Arg428=) c.1236G>A (p.Arg412=) n.667G>A c.276G>A (p.Arg92=) c.147G>A (p.Arg49=) | dbSNP gnomAD v2 |
| 7 | g.44145248C>A | CA367397179 | GCK | c.*1284G>T (n.*1284G>T) c.*406G>T (n.*406G>T) n.512G>T c.320G>T (p.Arg107Met) c.1289G>T (p.Arg430Met) c.1286G>T (p.Arg429Met) c.1349G>T (p.Arg450Met) n.298G>T c.338G>T (p.Arg113Met) c.1283G>T (p.Arg428Met) c.1235G>T (p.Arg412Met) n.666G>T c.275G>T (p.Arg92Met) c.146G>T (p.Arg49Met) | |
| 7 | g.44145248C= | CA1703612697 | GCK | c.*1284G= (n.*1284G=) c.*406G= (n.*406G=) n.512G= c.320G= (p.Arg107=) c.1289G= (p.Arg430=) c.1286G= (p.Arg429=) c.1349G= (p.Arg450=) n.298G= c.338G= (p.Arg113=) c.1283G= (p.Arg428=) c.1235G= (p.Arg412=) n.666G= c.275G= (p.Arg92=) c.146G= (p.Arg49=) | |
| 7 | g.44145248C>G | CA367397181 | GCK | c.*1284G>C (n.*1284G>C) c.*406G>C (n.*406G>C) n.512G>C c.320G>C (p.Arg107Thr) c.1289G>C (p.Arg430Thr) c.1286G>C (p.Arg429Thr) c.1349G>C (p.Arg450Thr) n.298G>C c.338G>C (p.Arg113Thr) c.1283G>C (p.Arg428Thr) c.1235G>C (p.Arg412Thr) n.666G>C c.275G>C (p.Arg92Thr) c.146G>C (p.Arg49Thr) | |
| 7 | g.44145248C>T | CA4239384 | GCK | c.*1284G>A (n.*1284G>A) c.*406G>A (n.*406G>A) n.512G>A c.320G>A (p.Arg107Lys) c.1289G>A (p.Arg430Lys) c.1286G>A (p.Arg429Lys) c.1349G>A (p.Arg450Lys) n.298G>A c.338G>A (p.Arg113Lys) c.1283G>A (p.Arg428Lys) c.1235G>A (p.Arg412Lys) n.666G>A c.275G>A (p.Arg92Lys) c.146G>A (p.Arg49Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.44145251_44145259dup | CA2695202964 | GCK | c.*1276_*1284dup (n.*1276_*1284dup) c.*398_*406dup (n.*398_*406dup) n.504_512dup c.312_320dup (p.Arg106_Arg107insSerValArg) c.1281_1289dup (p.Arg429_Arg430insSerValArg) c.1278_1286dup (p.Arg428_Arg429insSerValArg) c.1341_1349dup (p.Arg449_Arg450insSerValArg) n.290_298dup c.330_338dup (p.Arg112_Arg113insSerValArg) c.1275_1283dup (p.Arg427_Arg428insSerValArg) c.1227_1235dup (p.Arg411_Arg412insSerValArg) n.658_666dup c.267_275dup (p.Arg91_Arg92insSerValArg) c.138_146dup (p.Arg48_Arg49insSerValArg) | |
| 7 | g.44145251_44145259del | CA2695202963 | GCK | c.*1276_*1284del (n.*1276_*1284del) c.*398_*406del (n.*398_*406del) n.504_512del c.312_320del (p.Ser104_Arg106del) c.1281_1289del (p.Ser427_Arg429del) c.1278_1286del (p.Ser426_Arg428del) c.1341_1349del (p.Ser447_Arg449del) n.290_298del c.330_338del (p.Ser110_Arg112del) c.1275_1283del (p.Ser425_Arg427del) c.1227_1235del (p.Ser409_Arg411del) n.658_666del c.267_275del (p.Ser89_Arg91del) c.138_146del (p.Ser46_Arg48del) | |
| 7 | g.44145249T>A | CA367397183 | GCK | c.*1283A>T (n.*1283A>T) c.*405A>T (n.*405A>T) n.511A>T c.319A>T (p.Arg107Trp) c.1288A>T (p.Arg430Trp) c.1285A>T (p.Arg429Trp) c.1348A>T (p.Arg450Trp) n.297A>T c.337A>T (p.Arg113Trp) c.1282A>T (p.Arg428Trp) c.1234A>T (p.Arg412Trp) n.665A>T c.274A>T (p.Arg92Trp) c.145A>T (p.Arg49Trp) | |
| 7 | g.44145249T>C | CA367397186 | GCK | c.*1283A>G (n.*1283A>G) c.*405A>G (n.*405A>G) n.511A>G c.319A>G (p.Arg107Gly) c.1288A>G (p.Arg430Gly) c.1285A>G (p.Arg429Gly) c.1348A>G (p.Arg450Gly) n.297A>G c.337A>G (p.Arg113Gly) c.1282A>G (p.Arg428Gly) c.1234A>G (p.Arg412Gly) n.665A>G c.274A>G (p.Arg92Gly) c.145A>G (p.Arg49Gly) | gnomAD v4 |
| 7 | g.44145249T>G | CA213745 | GCK | c.*1283A>C (n.*1283A>C) c.*405A>C (n.*405A>C) n.511A>C c.319A>C (p.Arg107=) c.1288A>C (p.Arg430=) c.1285A>C (p.Arg429=) c.1348A>C (p.Arg450=) n.297A>C c.337A>C (p.Arg113=) c.1282A>C (p.Arg428=) c.1234A>C (p.Arg412=) n.665A>C c.274A>C (p.Arg92=) c.145A>C (p.Arg49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145249T= | CA1703612699 | GCK | c.*1283A= (n.*1283A=) c.*405A= (n.*405A=) n.511A= c.319A= (p.Arg107=) c.1288A= (p.Arg430=) c.1285A= (p.Arg429=) c.1348A= (p.Arg450=) n.297A= c.337A= (p.Arg113=) c.1282A= (p.Arg428=) c.1234A= (p.Arg412=) n.665A= c.274A= (p.Arg92=) c.145A= (p.Arg49=) | |
| 7 | g.44145249_44145251delinsTGC | CA1703612698 | GCK | c.*1281_*1283delinsGCA (n.*1281_*1283delinsGCA) c.*403_*405delinsGCA (n.*403_*405delinsGCA) n.509_511delinsGCA c.317_319delinsGCA (p.Arg106=) c.1286_1288delinsGCA (p.Arg429=) c.1283_1285delinsGCA (p.Arg428=) c.1346_1348delinsGCA (p.Arg449=) n.295_297delinsGCA c.335_337delinsGCA (p.Arg112=) c.1280_1282delinsGCA (p.Arg427=) c.1232_1234delinsGCA (p.Arg411=) n.663_665delinsGCA c.272_274delinsGCA (p.Arg91=) c.143_145delinsGCA (p.Arg48=) | |
| 7 | g.44145250G>A | CA454606695 | GCK | c.*1282C>T (n.*1282C>T) c.*404C>T (n.*404C>T) n.510C>T c.318C>T (p.Arg106=) c.1287C>T (p.Arg429=) c.1284C>T (p.Arg428=) c.1347C>T (p.Arg449=) n.296C>T c.336C>T (p.Arg112=) c.1281C>T (p.Arg427=) c.1233C>T (p.Arg411=) n.664C>T c.273C>T (p.Arg91=) c.144C>T (p.Arg48=) | |
| 7 | g.44145250G>C | CA454606694 | GCK | c.*1282C>G (n.*1282C>G) c.*404C>G (n.*404C>G) n.510C>G c.318C>G (p.Arg106=) c.1287C>G (p.Arg429=) c.1284C>G (p.Arg428=) c.1347C>G (p.Arg449=) n.296C>G c.336C>G (p.Arg112=) c.1281C>G (p.Arg427=) c.1233C>G (p.Arg411=) n.664C>G c.273C>G (p.Arg91=) c.144C>G (p.Arg48=) | |
| 7 | g.44145250G= | CA1703612700 | GCK | c.*1282C= (n.*1282C=) c.*404C= (n.*404C=) n.510C= c.318C= (p.Arg106=) c.1287C= (p.Arg429=) c.1284C= (p.Arg428=) c.1347C= (p.Arg449=) n.296C= c.336C= (p.Arg112=) c.1281C= (p.Arg427=) c.1233C= (p.Arg411=) n.664C= c.273C= (p.Arg91=) c.144C= (p.Arg48=) | |
| 7 | g.44145250G>T | CA4239385 | GCK | c.*1282C>A (n.*1282C>A) c.*404C>A (n.*404C>A) n.510C>A c.318C>A (p.Arg106=) c.1287C>A (p.Arg429=) c.1284C>A (p.Arg428=) c.1347C>A (p.Arg449=) n.296C>A c.336C>A (p.Arg112=) c.1281C>A (p.Arg427=) c.1233C>A (p.Arg411=) n.664C>A c.273C>A (p.Arg91=) c.144C>A (p.Arg48=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145252_44145253del | CA213744 | GCK | c.*1281_*1282del (n.*1281_*1282del) c.*403_*404del (n.*403_*404del) n.509_510del c.317_318del (p.Arg106GlnfsTer30) c.1286_1287del (p.Arg429GlnfsTer30) c.1283_1284del (p.Arg428GlnfsTer30) c.1346_1347del (p.Arg449GlnfsTer30) n.295_296del c.1283_1284del (p.Arg428GlnfsTer?) c.335_336del (p.Arg112GlnfsTer30) c.1280_1281del (p.Arg427GlnfsTer30) c.1232_1233del (p.Arg411GlnfsTer30) n.663_664del c.272_273del (p.Arg91GlnfsTer30) c.143_144del (p.Arg48GlnfsTer?) c.143_144del (p.Arg48GlnfsTer30) | ClinVar dbSNP |
| 7 | g.44145251C>A | CA367397188 | GCK | c.*1281G>T (n.*1281G>T) c.*403G>T (n.*403G>T) n.509G>T c.317G>T (p.Arg106Leu) c.1286G>T (p.Arg429Leu) c.1283G>T (p.Arg428Leu) c.1346G>T (p.Arg449Leu) n.295G>T c.335G>T (p.Arg112Leu) c.1280G>T (p.Arg427Leu) c.1232G>T (p.Arg411Leu) n.663G>T c.272G>T (p.Arg91Leu) c.143G>T (p.Arg48Leu) | |
| 7 | g.44145251C= | CA1703612701 | GCK | c.*1281G= (n.*1281G=) c.*403G= (n.*403G=) n.509G= c.317G= (p.Arg106=) c.1286G= (p.Arg429=) c.1283G= (p.Arg428=) c.1346G= (p.Arg449=) n.295G= c.335G= (p.Arg112=) c.1280G= (p.Arg427=) c.1232G= (p.Arg411=) n.663G= c.272G= (p.Arg91=) c.143G= (p.Arg48=) | |
| 7 | g.44145251C>G | CA367397191 | GCK | c.*1281G>C (n.*1281G>C) c.*403G>C (n.*403G>C) n.509G>C c.317G>C (p.Arg106Pro) c.1286G>C (p.Arg429Pro) c.1283G>C (p.Arg428Pro) c.1346G>C (p.Arg449Pro) n.295G>C c.335G>C (p.Arg112Pro) c.1280G>C (p.Arg427Pro) c.1232G>C (p.Arg411Pro) n.663G>C c.272G>C (p.Arg91Pro) c.143G>C (p.Arg48Pro) | |
| 7 | g.44145251C>T | CA367397190 | GCK | c.*1281G>A (n.*1281G>A) c.*403G>A (n.*403G>A) n.509G>A c.317G>A (p.Arg106His) c.1286G>A (p.Arg429His) c.1283G>A (p.Arg428His) c.1346G>A (p.Arg449His) n.295G>A c.335G>A (p.Arg112His) c.1280G>A (p.Arg427His) c.1232G>A (p.Arg411His) n.663G>A c.272G>A (p.Arg91His) c.143G>A (p.Arg48His) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145254_44145257dup | CA1139660055 | GCK | c.*1278_*1281dup (n.*1278_*1281dup) c.*400_*403dup (n.*400_*403dup) n.506_509dup c.314_317dup (p.Arg107AlafsTer31) c.1283_1286dup (p.Arg430AlafsTer31) c.1280_1283dup (p.Arg429AlafsTer31) c.1343_1346dup (p.Arg450AlafsTer31) n.292_295dup c.1280_1283dup (p.Arg429AlafsTer?) c.332_335dup (p.Arg113AlafsTer31) c.1277_1280dup (p.Arg428AlafsTer31) c.1229_1232dup (p.Arg412AlafsTer31) n.660_663dup c.269_272dup (p.Arg92AlafsTer31) c.140_143dup (p.Arg49AlafsTer?) c.140_143dup (p.Arg49AlafsTer31) | ClinVar dbSNP |
| 7 | g.44145252G>A | CA4239386 | GCK | c.*1280C>T (n.*1280C>T) c.*402C>T (n.*402C>T) n.508C>T c.316C>T (p.Arg106Cys) c.1285C>T (p.Arg429Cys) c.1282C>T (p.Arg428Cys) c.1345C>T (p.Arg449Cys) n.294C>T c.334C>T (p.Arg112Cys) c.1279C>T (p.Arg427Cys) c.1231C>T (p.Arg411Cys) n.662C>T c.271C>T (p.Arg91Cys) c.142C>T (p.Arg48Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 7 | g.44145252G>C | CA367397196 | GCK | c.*1280C>G (n.*1280C>G) c.*402C>G (n.*402C>G) n.508C>G c.316C>G (p.Arg106Gly) c.1285C>G (p.Arg429Gly) c.1282C>G (p.Arg428Gly) c.1345C>G (p.Arg449Gly) n.294C>G c.334C>G (p.Arg112Gly) c.1279C>G (p.Arg427Gly) c.1231C>G (p.Arg411Gly) n.662C>G c.271C>G (p.Arg91Gly) c.142C>G (p.Arg48Gly) | |
| 7 | g.44145252G= | CA1703612702 | GCK | c.*1280C= (n.*1280C=) c.*402C= (n.*402C=) n.508C= c.316C= (p.Arg106=) c.1285C= (p.Arg429=) c.1282C= (p.Arg428=) c.1345C= (p.Arg449=) n.294C= c.334C= (p.Arg112=) c.1279C= (p.Arg427=) c.1231C= (p.Arg411=) n.662C= c.271C= (p.Arg91=) c.142C= (p.Arg48=) | |
| 7 | g.44145252G>T | CA367397195 | GCK | c.*1280C>A (n.*1280C>A) c.*402C>A (n.*402C>A) n.508C>A c.316C>A (p.Arg106Ser) c.1285C>A (p.Arg429Ser) c.1282C>A (p.Arg428Ser) c.1345C>A (p.Arg449Ser) n.294C>A c.334C>A (p.Arg112Ser) c.1279C>A (p.Arg427Ser) c.1231C>A (p.Arg411Ser) n.662C>A c.271C>A (p.Arg91Ser) c.142C>A (p.Arg48Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.44145253C>A | CA454606696 | GCK | c.*1279G>T (n.*1279G>T) c.*401G>T (n.*401G>T) n.507G>T c.315G>T (p.Val105=) c.1284G>T (p.Val428=) c.1281G>T (p.Val427=) c.1344G>T (p.Val448=) n.293G>T c.333G>T (p.Val111=) c.1278G>T (p.Val426=) c.1230G>T (p.Val410=) n.661G>T c.270G>T (p.Val90=) c.141G>T (p.Val47=) | |
| 7 | g.44145253C= | CA1703612703 | GCK | c.*1279G= (n.*1279G=) c.*401G= (n.*401G=) n.507G= c.315G= (p.Val105=) c.1284G= (p.Val428=) c.1281G= (p.Val427=) c.1344G= (p.Val448=) n.293G= c.333G= (p.Val111=) c.1278G= (p.Val426=) c.1230G= (p.Val410=) n.661G= c.270G= (p.Val90=) c.141G= (p.Val47=) | |
| 7 | g.44145253C>G | CA454606697 | GCK | c.*1279G>C (n.*1279G>C) c.*401G>C (n.*401G>C) n.507G>C c.315G>C (p.Val105=) c.1284G>C (p.Val428=) c.1281G>C (p.Val427=) c.1344G>C (p.Val448=) n.293G>C c.333G>C (p.Val111=) c.1278G>C (p.Val426=) c.1230G>C (p.Val410=) n.661G>C c.270G>C (p.Val90=) c.141G>C (p.Val47=) | |
| 7 | g.44145253C>T | CA4239387 | GCK | c.*1279G>A (n.*1279G>A) c.*401G>A (n.*401G>A) n.507G>A c.315G>A (p.Val105=) c.1284G>A (p.Val428=) c.1281G>A (p.Val427=) c.1344G>A (p.Val448=) n.293G>A c.333G>A (p.Val111=) c.1278G>A (p.Val426=) c.1230G>A (p.Val410=) n.661G>A c.270G>A (p.Val90=) c.141G>A (p.Val47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.44145254A= | CA1703612704 | GCK | c.*1278T= (n.*1278T=) c.*400T= (n.*400T=) n.506T= c.314T= (p.Val105=) c.1283T= (p.Val428=) c.1280T= (p.Val427=) c.1343T= (p.Val448=) n.292T= c.332T= (p.Val111=) c.1277T= (p.Val426=) c.1229T= (p.Val410=) n.660T= c.269T= (p.Val90=) c.140T= (p.Val47=) | |
| 7 | g.44145254A>C | CA367397199 | GCK | c.*1278T>G (n.*1278T>G) c.*400T>G (n.*400T>G) n.506T>G c.314T>G (p.Val105Gly) c.1283T>G (p.Val428Gly) c.1280T>G (p.Val427Gly) c.1343T>G (p.Val448Gly) n.292T>G c.332T>G (p.Val111Gly) c.1277T>G (p.Val426Gly) c.1229T>G (p.Val410Gly) n.660T>G c.269T>G (p.Val90Gly) c.140T>G (p.Val47Gly) | ClinVar dbSNP |
| 7 | g.44145254A>G | CA367397201 | GCK | c.*1278T>C (n.*1278T>C) c.*400T>C (n.*400T>C) n.506T>C c.314T>C (p.Val105Ala) c.1283T>C (p.Val428Ala) c.1280T>C (p.Val427Ala) c.1343T>C (p.Val448Ala) n.292T>C c.332T>C (p.Val111Ala) c.1277T>C (p.Val426Ala) c.1229T>C (p.Val410Ala) n.660T>C c.269T>C (p.Val90Ala) c.140T>C (p.Val47Ala) | |
| 7 | g.44145254A>T | CA367397202 | GCK | c.*1278T>A (n.*1278T>A) c.*400T>A (n.*400T>A) n.506T>A c.314T>A (p.Val105Glu) c.1283T>A (p.Val428Glu) c.1280T>A (p.Val427Glu) c.1343T>A (p.Val448Glu) n.292T>A c.332T>A (p.Val111Glu) c.1277T>A (p.Val426Glu) c.1229T>A (p.Val410Glu) n.660T>A c.269T>A (p.Val90Glu) c.140T>A (p.Val47Glu) |