Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.33018485T>ACA201009GLB1c.1310A>T (p.Asn437Ile)
c.917A>T (p.Asn306Ile)
c.1220A>T (p.Asn407Ile)
n.409A>T
n.347A>T
n.562A>T
c.1454A>T (p.Asn485Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.33018485T>CCA2299431GLB1c.1310A>G (p.Asn437Ser)
c.917A>G (p.Asn306Ser)
c.1220A>G (p.Asn407Ser)
n.409A>G
n.347A>G
n.562A>G
c.1454A>G (p.Asn485Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33018485T>GCA2299432GLB1c.1310A>C (p.Asn437Thr)
c.917A>C (p.Asn306Thr)
c.1220A>C (p.Asn407Thr)
n.409A>C
n.347A>C
n.562A>C
c.1454A>C (p.Asn485Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33018485T=CA1355986171GLB1c.1310A= (p.Asn437=)
c.917A= (p.Asn306=)
c.1220A= (p.Asn407=)
n.409A=
n.347A=
n.562A=
c.1454A= (p.Asn485=)
3g.33018486delCA2573136212GLB1c.1310del (p.Asn437MetfsTer24)
c.917del (p.Asn306MetfsTer24)
c.1220del (p.Asn407MetfsTer24)
n.409del
n.347del
n.562del
c.1454del (p.Asn485MetfsTer24)
 ClinVar dbSNP gnomAD v4
3g.33018486T>ACA351992189GLB1c.1309A>T (p.Asn437Tyr)
c.916A>T (p.Asn306Tyr)
c.1219A>T (p.Asn407Tyr)
n.408A>T
n.346A>T
n.561A>T
c.1453A>T (p.Asn485Tyr)
 gnomAD v4
3g.33018486T>CCA351992192GLB1c.1309A>G (p.Asn437Asp)
c.916A>G (p.Asn306Asp)
c.1219A>G (p.Asn407Asp)
n.408A>G
n.346A>G
n.561A>G
c.1453A>G (p.Asn485Asp)
3g.33018486T>GCA351992203GLB1c.1309A>C (p.Asn437His)
c.916A>C (p.Asn306His)
c.1219A>C (p.Asn407His)
n.408A>C
n.346A>C
n.561A>C
c.1453A>C (p.Asn485His)
3g.33018487G>ACA432953004GLB1c.1308C>T (p.Leu436=)
c.915C>T (p.Leu305=)
c.1218C>T (p.Leu406=)
n.407C>T
n.345C>T
n.560C>T
c.1452C>T (p.Leu484=)
3g.33018487G>CCA432953005GLB1c.1308C>G (p.Leu436=)
c.915C>G (p.Leu305=)
c.1218C>G (p.Leu406=)
n.407C>G
n.345C>G
n.560C>G
c.1452C>G (p.Leu484=)
3g.33018487G>TCA432953006GLB1c.1308C>A (p.Leu436=)
c.915C>A (p.Leu305=)
c.1218C>A (p.Leu406=)
n.407C>A
n.345C>A
n.560C>A
c.1452C>A (p.Leu484=)
 gnomAD v4
3g.33018488A>CCA351992208GLB1c.1307T>G (p.Leu436Arg)
c.914T>G (p.Leu305Arg)
c.1217T>G (p.Leu406Arg)
n.406T>G
n.344T>G
n.559T>G
c.1451T>G (p.Leu484Arg)
3g.33018488A>GCA351992211GLB1c.1307T>C (p.Leu436Pro)
c.914T>C (p.Leu305Pro)
c.1217T>C (p.Leu406Pro)
n.406T>C
n.344T>C
n.559T>C
c.1451T>C (p.Leu484Pro)
3g.33018488A>TCA351992206GLB1c.1307T>A (p.Leu436His)
c.914T>A (p.Leu305His)
c.1217T>A (p.Leu406His)
n.406T>A
n.344T>A
n.559T>A
c.1451T>A (p.Leu484His)
3g.33018489G>ACA345426GLB1c.1306C>T (p.Leu436Phe)
c.913C>T (p.Leu305Phe)
c.1216C>T (p.Leu406Phe)
n.405C>T
n.343C>T
n.558C>T
c.1450C>T (p.Leu484Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.33018489G>CCA351992215GLB1c.1306C>G (p.Leu436Val)
c.913C>G (p.Leu305Val)
c.1216C>G (p.Leu406Val)
n.405C>G
n.343C>G
n.558C>G
c.1450C>G (p.Leu484Val)
 ClinVar dbSNP gnomAD v4
3g.33018489G=CA1355986172GLB1c.1306C= (p.Leu436=)
c.913C= (p.Leu305=)
c.1216C= (p.Leu406=)
n.405C=
n.343C=
n.558C=
c.1450C= (p.Leu484=)
3g.33018489G>TCA351992219GLB1c.1306C>A (p.Leu436Ile)
c.913C>A (p.Leu305Ile)
c.1216C>A (p.Leu406Ile)
n.405C>A
n.343C>A
n.558C>A
c.1450C>A (p.Leu484Ile)
3g.33018492delCA2586971837GLB1c.1306del (p.Leu436SerfsTer25)
c.913del (p.Leu305SerfsTer25)
c.1216del (p.Leu406SerfsTer25)
n.405del
n.343del
n.558del
c.1450del (p.Leu484SerfsTer25)
3g.33018490G>ACA432953007GLB1c.1305C>T (p.Pro435=)
c.912C>T (p.Pro304=)
c.1215C>T (p.Pro405=)
n.404C>T
n.342C>T
n.557C>T
c.1449C>T (p.Pro483=)
3g.33018490G>CCA432953008GLB1c.1305C>G (p.Pro435=)
c.912C>G (p.Pro304=)
c.1215C>G (p.Pro405=)
n.404C>G
n.342C>G
n.557C>G
c.1449C>G (p.Pro483=)
 gnomAD v4
3g.33018490G>TCA432953009GLB1c.1305C>A (p.Pro435=)
c.912C>A (p.Pro304=)
c.1215C>A (p.Pro405=)
n.404C>A
n.342C>A
n.557C>A
c.1449C>A (p.Pro483=)
3g.33018491G>ACA351992222GLB1c.1304C>T (p.Pro435Leu)
c.911C>T (p.Pro304Leu)
c.1214C>T (p.Pro405Leu)
n.403C>T
n.341C>T
n.556C>T
c.1448C>T (p.Pro483Leu)
 dbSNP gnomAD v2
3g.33018491G>CCA351992225GLB1c.1304C>G (p.Pro435Arg)
c.911C>G (p.Pro304Arg)
c.1214C>G (p.Pro405Arg)
n.403C>G
n.341C>G
n.556C>G
c.1448C>G (p.Pro483Arg)
3g.33018491G=CA1355986173GLB1c.1304C= (p.Pro435=)
c.911C= (p.Pro304=)
c.1214C= (p.Pro405=)
n.403C=
n.341C=
n.556C=
c.1448C= (p.Pro483=)
3g.33018491G>TCA351992227GLB1c.1304C>A (p.Pro435His)
c.911C>A (p.Pro304His)
c.1214C>A (p.Pro405His)
n.403C>A
n.341C>A
n.556C>A
c.1448C>A (p.Pro483His)
3g.33018492G>ACA351992229GLB1c.1303C>T (p.Pro435Ser)
c.910C>T (p.Pro304Ser)
c.1213C>T (p.Pro405Ser)
n.402C>T
n.340C>T
n.555C>T
c.1447C>T (p.Pro483Ser)
 dbSNP
3g.33018492G>CCA351992230GLB1c.1303C>G (p.Pro435Ala)
c.910C>G (p.Pro304Ala)
c.1213C>G (p.Pro405Ala)
n.402C>G
n.340C>G
n.555C>G
c.1447C>G (p.Pro483Ala)
3g.33018492G=CA1355986174GLB1c.1303C= (p.Pro435=)
c.910C= (p.Pro304=)
c.1213C= (p.Pro405=)
n.402C=
n.340C=
n.555C=
c.1447C= (p.Pro483=)
3g.33018492G>TCA351992231GLB1c.1303C>A (p.Pro435Thr)
c.910C>A (p.Pro304Thr)
c.1213C>A (p.Pro405Thr)
n.402C>A
n.340C>A
n.555C>A
c.1447C>A (p.Pro483Thr)
 gnomAD v4
3g.33018493T>ACA432953010GLB1c.1302A>T (p.Ser434=)
c.909A>T (p.Ser303=)
c.1212A>T (p.Ser404=)
n.401A>T
n.339A>T
n.554A>T
c.1446A>T (p.Ser482=)
 gnomAD v4
3g.33018493T>CCA72650361GLB1c.1302A>G (p.Ser434=)
c.909A>G (p.Ser303=)
c.1212A>G (p.Ser404=)
n.401A>G
n.339A>G
n.554A>G
c.1446A>G (p.Ser482=)
 dbSNP gnomAD v3 gnomAD v4
3g.33018493T>GCA2299433GLB1c.1302A>C (p.Ser434=)
c.909A>C (p.Ser303=)
c.1212A>C (p.Ser404=)
n.401A>C
n.339A>C
n.554A>C
c.1446A>C (p.Ser482=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.33018493T=CA1355986175GLB1c.1302A= (p.Ser434=)
c.909A= (p.Ser303=)
c.1212A= (p.Ser404=)
n.401A=
n.339A=
n.554A=
c.1446A= (p.Ser482=)
3g.33018494G>ACA72650380GLB1c.1301C>T (p.Ser434Leu)
c.908C>T (p.Ser303Leu)
c.1211C>T (p.Ser404Leu)
n.400C>T
n.338C>T
n.553C>T
c.1445C>T (p.Ser482Leu)
 dbSNP
3g.33018494G>CCA351992248GLB1c.1301C>G (p.Ser434Ter)
c.908C>G (p.Ser303Ter)
c.1211C>G (p.Ser404Ter)
n.400C>G
n.338C>G
n.553C>G
c.1445C>G (p.Ser482Ter)
3g.33018494G=CA1355986176GLB1c.1301C= (p.Ser434=)
c.908C= (p.Ser303=)
c.1211C= (p.Ser404=)
n.400C=
n.338C=
n.553C=
c.1445C= (p.Ser482=)
3g.33018494G>TCA351992251GLB1c.1301C>A (p.Ser434Ter)
c.908C>A (p.Ser303Ter)
c.1211C>A (p.Ser404Ter)
n.400C>A
n.338C>A
n.553C>A
c.1445C>A (p.Ser482Ter)
3g.33018495A=CA1355986178GLB1c.1300T= (p.Ser434=)
c.907T= (p.Ser303=)
c.1210T= (p.Ser404=)
n.399T=
n.337T=
n.552T=
c.1444T= (p.Ser482=)
3g.33018495A>CCA351992270GLB1c.1300T>G (p.Ser434Ala)
c.907T>G (p.Ser303Ala)
c.1210T>G (p.Ser404Ala)
n.399T>G
n.337T>G
n.552T>G
c.1444T>G (p.Ser482Ala)
3g.33018495A>GCA351992261GLB1c.1300T>C (p.Ser434Pro)
c.907T>C (p.Ser303Pro)
c.1210T>C (p.Ser404Pro)
n.399T>C
n.337T>C
n.552T>C
c.1444T>C (p.Ser482Pro)
3g.33018495A>TCA351992256GLB1c.1300T>A (p.Ser434Thr)
c.907T>A (p.Ser303Thr)
c.1210T>A (p.Ser404Thr)
n.399T>A
n.337T>A
n.552T>A
c.1444T>A (p.Ser482Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.33018495_33018497delinsAAGCA1355986177GLB1c.1298_1300delinsCTT (p.Ser433=)
c.905_907delinsCTT (p.Ser302=)
c.1208_1210delinsCTT (p.Ser403=)
n.397_399delinsCTT
n.335_337delinsCTT
n.550_552delinsCTT
c.1442_1444delinsCTT (p.Ser481=)
3g.33018496A>CCA432953011GLB1c.1299T>G (p.Ser433=)
c.906T>G (p.Ser302=)
c.1209T>G (p.Ser403=)
n.398T>G
n.336T>G
n.551T>G
c.1443T>G (p.Ser481=)
3g.33018496A>GCA432953013GLB1c.1299T>C (p.Ser433=)
c.906T>C (p.Ser302=)
c.1209T>C (p.Ser403=)
n.398T>C
n.336T>C
n.551T>C
c.1443T>C (p.Ser481=)
3g.33018496A>TCA432953012GLB1c.1299T>A (p.Ser433=)
c.906T>A (p.Ser302=)
c.1209T>A (p.Ser403=)
n.398T>A
n.336T>A
n.551T>A
c.1443T>A (p.Ser481=)
3g.33018502_33018503delCA645527980GLB1c.1298_1299del (p.Ser433PhefsTer23)
c.905_906del (p.Ser302PhefsTer23)
c.1208_1209del (p.Ser403PhefsTer23)
n.397_398del
n.335_336del
n.550_551del
c.1442_1443del (p.Ser481PhefsTer23)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.33018497G>ACA351992274GLB1c.1298C>T (p.Ser433Phe)
c.905C>T (p.Ser302Phe)
c.1208C>T (p.Ser403Phe)
n.397C>T
n.335C>T
n.550C>T
c.1442C>T (p.Ser481Phe)
3g.33018497G>CCA351992276GLB1c.1298C>G (p.Ser433Cys)
c.905C>G (p.Ser302Cys)
c.1208C>G (p.Ser403Cys)
n.397C>G
n.335C>G
n.550C>G
c.1442C>G (p.Ser481Cys)
 dbSNP gnomAD v3 gnomAD v4
3g.33018497G=CA1355986179GLB1c.1298C= (p.Ser433=)
c.905C= (p.Ser302=)
c.1208C= (p.Ser403=)
n.397C=
n.335C=
n.550C=
c.1442C= (p.Ser481=)

Number of alleles fetched