Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.97549559C>ACA341377317DPYDc.1524+1G>T (n.1524+1G>T)
c.1413+1G>T (n.1413+1G>T)
c.1029+1G>T (n.1029+1G>T)
1g.97549559C=CA1182917386DPYDc.1524+1G= (n.1524+1G=)
c.1413+1G= (n.1413+1G=)
c.1029+1G= (n.1029+1G=)
1g.97549559C>GCA341377318DPYDc.1524+1G>C (n.1524+1G>C)
c.1413+1G>C (n.1413+1G>C)
c.1029+1G>C (n.1029+1G>C)
1g.97549559C>TCA16040804DPYDc.1524+1G>A (n.1524+1G>A)
c.1413+1G>A (n.1413+1G>A)
c.1029+1G>A (n.1029+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.97549560C>ACA341377319DPYDc.1524G>T (p.Gln508His)
c.1413G>T (p.Gln471His)
c.1029G>T (p.Gln343His)
1g.97549560C=CA1182917387DPYDc.1524G= (p.Gln508=)
c.1413G= (p.Gln471=)
c.1029G= (p.Gln343=)
1g.97549560C>GCA341377320DPYDc.1524G>C (p.Gln508His)
c.1413G>C (p.Gln471His)
c.1029G>C (p.Gln343His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.97549560C>TCA963329DPYDc.1524G>A (p.Gln508=)
c.1413G>A (p.Gln471=)
c.1029G>A (p.Gln343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549561_97549562insACTCA2574442271DPYDc.1524_1524+1insTAG
c.1413_1413+1insTAG
c.1029_1029+1insTAG
1g.97549561T>ACA341377324DPYDc.1523A>T (p.Gln508Leu)
c.1412A>T (p.Gln471Leu)
c.1028A>T (p.Gln343Leu)
1g.97549561T>CCA341377325DPYDc.1523A>G (p.Gln508Arg)
c.1412A>G (p.Gln471Arg)
c.1028A>G (p.Gln343Arg)
1g.97549561T>GCA341377327DPYDc.1523A>C (p.Gln508Pro)
c.1412A>C (p.Gln471Pro)
c.1028A>C (p.Gln343Pro)
1g.97549562G>ACA341377329DPYDc.1522C>T (p.Gln508Ter)
c.1411C>T (p.Gln471Ter)
c.1027C>T (p.Gln343Ter)
1g.97549562G>CCA341377330DPYDc.1522C>G (p.Gln508Glu)
c.1411C>G (p.Gln471Glu)
c.1027C>G (p.Gln343Glu)
1g.97549562G>TCA341377331DPYDc.1522C>A (p.Gln508Lys)
c.1411C>A (p.Gln471Lys)
c.1027C>A (p.Gln343Lys)
1g.97549562dupCA2696708359DPYDc.1522dup (p.Gln508ProfsTer13)
c.1522dup (p.Gln508ProfsTer?)
c.1411dup (p.Gln471ProfsTer13)
c.1027dup (p.Gln343ProfsTer13)
 dbSNP
1g.97549563T>ACA963330DPYDc.1521A>T (p.Val507=)
c.1410A>T (p.Val470=)
c.1026A>T (p.Val342=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.97549563T>CCA419145201DPYDc.1521A>G (p.Val507=)
c.1410A>G (p.Val470=)
c.1026A>G (p.Val342=)
1g.97549563T>GCA419145200DPYDc.1521A>C (p.Val507=)
c.1410A>C (p.Val470=)
c.1026A>C (p.Val342=)
1g.97549563T=CA1143955062DPYDc.1521A= (p.Val507=)
c.1410A= (p.Val470=)
c.1026A= (p.Val342=)
1g.97549563_97549564insTTTAGAAAACA2744701767DPYDc.1520_1521insTTTTCTAAA (p.Val507_Gln508insPheLeuLys)
c.1409_1410insTTTTCTAAA (p.Val470_Gln471insPheLeuLys)
c.1025_1026insTTTTCTAAA (p.Val342_Gln343insPheLeuLys)
1g.97549564A>CCA341377334DPYDc.1520T>G (p.Val507Gly)
c.1409T>G (p.Val470Gly)
c.1025T>G (p.Val342Gly)
1g.97549564A>GCA341377335DPYDc.1520T>C (p.Val507Ala)
c.1409T>C (p.Val470Ala)
c.1025T>C (p.Val342Ala)
1g.97549564A>TCA341377337DPYDc.1520T>A (p.Val507Glu)
c.1409T>A (p.Val470Glu)
c.1025T>A (p.Val342Glu)
1g.97549565C>ACA341377339DPYDc.1519G>T (p.Val507Leu)
c.1408G>T (p.Val470Leu)
c.1024G>T (p.Val342Leu)
 gnomAD v4
1g.97549565C=CA1141614733DPYDc.1519G= (p.Val507=)
c.1408G= (p.Val470=)
c.1024G= (p.Val342=)
1g.97549565C>GCA341377341DPYDc.1519G>C (p.Val507Leu)
c.1408G>C (p.Val470Leu)
c.1024G>C (p.Val342Leu)
1g.97549565C>TCA963331DPYDc.1519G>A (p.Val507Ile)
c.1408G>A (p.Val470Ile)
c.1024G>A (p.Val342Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549565_97549566delinsCGCA1182917388DPYDc.1518_1519delinsCG (p.Tyr506=)
c.1407_1408delinsCG (p.Tyr469=)
c.1023_1024delinsCG (p.Tyr341=)
1g.97549566delCA16040805DPYDc.1518del (p.Tyr506Ter)
c.1407del (p.Tyr469Ter)
c.1023del (p.Tyr341Ter)
 ClinVar dbSNP
1g.97549566G>ACA963332DPYDc.1518C>T (p.Tyr506=)
c.1407C>T (p.Tyr469=)
c.1023C>T (p.Tyr341=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.97549566G>CCA341377345DPYDc.1518C>G (p.Tyr506Ter)
c.1407C>G (p.Tyr469Ter)
c.1023C>G (p.Tyr341Ter)
1g.97549566G=CA1143465133DPYDc.1518C= (p.Tyr506=)
c.1407C= (p.Tyr469=)
c.1023C= (p.Tyr341=)
1g.97549566G>TCA341377347DPYDc.1518C>A (p.Tyr506Ter)
c.1407C>A (p.Tyr469Ter)
c.1023C>A (p.Tyr341Ter)
 gnomAD v4
1g.97549567T>ACA341377350DPYDc.1517A>T (p.Tyr506Phe)
c.1406A>T (p.Tyr469Phe)
c.1022A>T (p.Tyr341Phe)
1g.97549567T>CCA341377352DPYDc.1517A>G (p.Tyr506Cys)
c.1406A>G (p.Tyr469Cys)
c.1022A>G (p.Tyr341Cys)
1g.97549567T>GCA341377354DPYDc.1517A>C (p.Tyr506Ser)
c.1406A>C (p.Tyr469Ser)
c.1022A>C (p.Tyr341Ser)
1g.97549568A>CCA341377360DPYDc.1516T>G (p.Tyr506Asp)
c.1405T>G (p.Tyr469Asp)
c.1021T>G (p.Tyr341Asp)
1g.97549568A>GCA341377359DPYDc.1516T>C (p.Tyr506His)
c.1405T>C (p.Tyr469His)
c.1021T>C (p.Tyr341His)
 gnomAD v4
1g.97549568A>TCA341377357DPYDc.1516T>A (p.Tyr506Asn)
c.1405T>A (p.Tyr469Asn)
c.1021T>A (p.Tyr341Asn)
1g.97549569T>ACA341377363DPYDc.1515A>T (p.Lys505Asn)
c.1404A>T (p.Lys468Asn)
c.1020A>T (p.Lys340Asn)
1g.97549569T>CCA419145207DPYDc.1515A>G (p.Lys505=)
c.1404A>G (p.Lys468=)
c.1020A>G (p.Lys340=)
1g.97549569T>GCA341377362DPYDc.1515A>C (p.Lys505Asn)
c.1404A>C (p.Lys468Asn)
c.1020A>C (p.Lys340Asn)
1g.97549570T>ACA341377365DPYDc.1514A>T (p.Lys505Ile)
c.1403A>T (p.Lys468Ile)
c.1019A>T (p.Lys340Ile)
1g.97549570T>CCA341377367DPYDc.1514A>G (p.Lys505Arg)
c.1403A>G (p.Lys468Arg)
c.1019A>G (p.Lys340Arg)
 dbSNP gnomAD v4
1g.97549570T>GCA341377368DPYDc.1514A>C (p.Lys505Thr)
c.1403A>C (p.Lys468Thr)
c.1019A>C (p.Lys340Thr)
1g.97549571T>ACA341377370DPYDc.1513A>T (p.Lys505Ter)
c.1402A>T (p.Lys468Ter)
c.1018A>T (p.Lys340Ter)
1g.97549571T>CCA341377371DPYDc.1513A>G (p.Lys505Glu)
c.1402A>G (p.Lys468Glu)
c.1018A>G (p.Lys340Glu)
 gnomAD v4
1g.97549571T>GCA341377372DPYDc.1513A>C (p.Lys505Gln)
c.1402A>C (p.Lys468Gln)
c.1018A>C (p.Lys340Gln)
1g.97549572delCA2744701768DPYDc.1512del (p.His504GlnfsTer?)
c.1512del (p.His504GlnfsTer8)
c.1401del (p.His467GlnfsTer?)
c.1017del (p.His339GlnfsTer?)

Number of alleles fetched