Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.67711573_67711580dupCA2695234361ARc.*405_*412dup (n.*405_*412dup)
c.2057_2064dup (p.Gly689CysfsTer?)
c.684_691dup (n.684_691dup)
c.461_468dup (p.Gly157CysfsTer?)
c.1487_1494dup (p.Gly499CysfsTer?)
Xg.67711580T>ACA517048403ARc.*412T>A (n.*412T>A)
c.2064T>A (p.Ala688=)
c.691T>A (n.691T>A)
c.468T>A (p.Ala156=)
c.1494T>A (p.Ala498=)
Xg.67711580T>CCA517048404ARc.*412T>C (n.*412T>C)
c.2064T>C (p.Ala688=)
c.691T>C (n.691T>C)
c.468T>C (p.Ala156=)
c.1494T>C (p.Ala498=)
Xg.67711580T>GCA517048405ARc.*412T>G (n.*412T>G)
c.2064T>G (p.Ala688=)
c.691T>G (n.691T>G)
c.468T>G (p.Ala156=)
c.1494T>G (p.Ala498=)
Xg.67711581G>ACA413423333ARc.*413G>A (n.*413G>A)
c.2065G>A (p.Gly689Arg)
c.692G>A (n.692G>A)
c.469G>A (p.Gly157Arg)
c.1495G>A (p.Gly499Arg)
dbSNP
Xg.67711581G>CCA413423334ARc.*413G>C (n.*413G>C)
c.2065G>C (p.Gly689Arg)
c.692G>C (n.692G>C)
c.469G>C (p.Gly157Arg)
c.1495G>C (p.Gly499Arg)
dbSNP
Xg.67711581G>TCA413423335ARc.*413G>T (n.*413G>T)
c.2065G>T (p.Gly689Ter)
c.692G>T (n.692G>T)
c.469G>T (p.Gly157Ter)
c.1495G>T (p.Gly499Ter)
Xg.67711582G>ACA413423336ARc.*414G>A (n.*414G>A)
c.2066G>A (p.Gly689Glu)
c.693G>A (n.693G>A)
c.470G>A (p.Gly157Glu)
c.1496G>A (p.Gly499Glu)
dbSNP
Xg.67711582G>CCA413423337ARc.*414G>C (n.*414G>C)
c.2066G>C (p.Gly689Ala)
c.693G>C (n.693G>C)
c.470G>C (p.Gly157Ala)
c.1496G>C (p.Gly499Ala)
dbSNP gnomAD v4 COSMIC COSMIC
Xg.67711582G>TCA413423338ARc.*414G>T (n.*414G>T)
c.2066G>T (p.Gly689Val)
c.693G>T (n.693G>T)
c.470G>T (p.Gly157Val)
c.1496G>T (p.Gly499Val)
dbSNP
Xg.67711583A>CCA517048407ARc.*415A>C (n.*415A>C)
c.2067A>C (p.Gly689=)
c.694A>C (n.694A>C)
c.471A>C (p.Gly157=)
c.1497A>C (p.Gly499=)
dbSNP
Xg.67711583A>GCA517048409ARc.*415A>G (n.*415A>G)
c.2067A>G (p.Gly689=)
c.694A>G (n.694A>G)
c.471A>G (p.Gly157=)
c.1497A>G (p.Gly499=)
dbSNP
Xg.67711583A>TCA517048411ARc.*415A>T (n.*415A>T)
c.2067A>T (p.Gly689=)
c.694A>T (n.694A>T)
c.471A>T (p.Gly157=)
c.1497A>T (p.Gly499=)
dbSNP
Xg.67711584C>ACA413423339ARc.*416C>A (n.*416C>A)
c.2068C>A (p.His690Asn)
c.695C>A (n.695C>A)
c.472C>A (p.His158Asn)
c.1498C>A (p.His500Asn)
ClinVar dbSNP
Xg.67711584C=CA2435130493ARc.*416C= (n.*416C=)
c.2068C= (p.His690=)
c.695C= (n.695C=)
c.472C= (p.His158=)
c.1498C= (p.His500=)
Xg.67711584C>GCA413423340ARc.*416C>G (n.*416C>G)
c.2068C>G (p.His690Asp)
c.695C>G (n.695C>G)
c.472C>G (p.His158Asp)
c.1498C>G (p.His500Asp)
dbSNP
Xg.67711584C>TCA413423341ARc.*416C>T (n.*416C>T)
c.2068C>T (p.His690Tyr)
c.695C>T (n.695C>T)
c.472C>T (p.His158Tyr)
c.1498C>T (p.His500Tyr)
dbSNP
Xg.67711585A=CA2435130494ARc.*417A= (n.*417A=)
c.2069A= (p.His690=)
c.696A= (n.696A=)
c.473A= (p.His158=)
c.1499A= (p.His500=)
Xg.67711585A>CCA120783ARc.*417A>C (n.*417A>C)
c.2069A>C (p.His690Pro)
c.696A>C (n.696A>C)
c.473A>C (p.His158Pro)
c.1499A>C (p.His500Pro)
ClinVar dbSNP
Xg.67711585A>GCA413423342ARc.*417A>G (n.*417A>G)
c.2069A>G (p.His690Arg)
c.696A>G (n.696A>G)
c.473A>G (p.His158Arg)
c.1499A>G (p.His500Arg)
dbSNP
Xg.67711585A>TCA413423343ARc.*417A>T (n.*417A>T)
c.2069A>T (p.His690Leu)
c.696A>T (n.696A>T)
c.473A>T (p.His158Leu)
c.1499A>T (p.His500Leu)
dbSNP
Xg.67711587_67711589delCA2695234362ARc.*419_*421del (n.*419_*421del)
c.2071_2073del (p.Asp691del)
c.698_700del (n.698_700del)
c.475_477del (p.Asp159del)
c.1501_1503del (p.Asp501del)
Xg.67711586C>ACA413423344ARc.*418C>A (n.*418C>A)
c.2070C>A (p.His690Gln)
c.697C>A (n.697C>A)
c.474C>A (p.His158Gln)
c.1500C>A (p.His500Gln)
Xg.67711586C=CA2435130495ARc.*418C= (n.*418C=)
c.2070C= (p.His690=)
c.697C= (n.697C=)
c.474C= (p.His158=)
c.1500C= (p.His500=)
Xg.67711586C>GCA413423345ARc.*418C>G (n.*418C>G)
c.2070C>G (p.His690Gln)
c.697C>G (n.697C>G)
c.474C>G (p.His158Gln)
c.1500C>G (p.His500Gln)
ClinVar dbSNP
Xg.67711586C>TCA10436571ARc.*418C>T (n.*418C>T)
c.2070C>T (p.His690=)
c.697C>T (n.697C>T)
c.474C>T (p.His158=)
c.1500C>T (p.His500=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.67711587G>ACA330771346ARc.*419G>A (n.*419G>A)
c.2071G>A (p.Asp691Asn)
c.698G>A (n.698G>A)
c.475G>A (p.Asp159Asn)
c.1501G>A (p.Asp501Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.67711587G>CCA413423347ARc.*419G>C (n.*419G>C)
c.2071G>C (p.Asp691His)
c.698G>C (n.698G>C)
c.475G>C (p.Asp159His)
c.1501G>C (p.Asp501His)
dbSNP
Xg.67711587G=CA2435130496ARc.*419G= (n.*419G=)
c.2071G= (p.Asp691=)
c.698G= (n.698G=)
c.475G= (p.Asp159=)
c.1501G= (p.Asp501=)
Xg.67711587G>TCA413423346ARc.*419G>T (n.*419G>T)
c.2071G>T (p.Asp691Tyr)
c.698G>T (n.698G>T)
c.475G>T (p.Asp159Tyr)
c.1501G>T (p.Asp501Tyr)
dbSNP
Xg.67711588A=CA2435130497ARc.*420A= (n.*420A=)
c.2072A= (p.Asp691=)
c.699A= (n.699A=)
c.476A= (p.Asp159=)
c.1502A= (p.Asp501=)
Xg.67711588A>CCA413423348ARc.*420A>C (n.*420A>C)
c.2072A>C (p.Asp691Ala)
c.699A>C (n.699A>C)
c.476A>C (p.Asp159Ala)
c.1502A>C (p.Asp501Ala)
dbSNP
Xg.67711588A>GCA413423349ARc.*420A>G (n.*420A>G)
c.2072A>G (p.Asp691Gly)
c.699A>G (n.699A>G)
c.476A>G (p.Asp159Gly)
c.1502A>G (p.Asp501Gly)
ClinVar dbSNP
Xg.67711588A>TCA413423350ARc.*420A>T (n.*420A>T)
c.2072A>T (p.Asp691Val)
c.699A>T (n.699A>T)
c.476A>T (p.Asp159Val)
c.1502A>T (p.Asp501Val)
dbSNP COSMIC COSMIC
Xg.67711593_67711595delCA2695234363ARc.*425_*427del (n.*425_*427del)
c.2077_2079del (p.Asn693del)
c.704_706del (n.704_706del)
c.481_483del (p.Asn161del)
c.1507_1509del (p.Asn503del)
Xg.67711589C>ACA413423351ARc.*421C>A (n.*421C>A)
c.2073C>A (p.Asp691Glu)
c.700C>A (n.700C>A)
c.477C>A (p.Asp159Glu)
c.1503C>A (p.Asp501Glu)
Xg.67711589C=CA2435130498ARc.*421C= (n.*421C=)
c.2073C= (p.Asp691=)
c.700C= (n.700C=)
c.477C= (p.Asp159=)
c.1503C= (p.Asp501=)
Xg.67711589C>GCA413423352ARc.*421C>G (n.*421C>G)
c.2073C>G (p.Asp691Glu)
c.700C>G (n.700C>G)
c.477C>G (p.Asp159Glu)
c.1503C>G (p.Asp501Glu)
dbSNP
Xg.67711589C>TCA10436572ARc.*421C>T (n.*421C>T)
c.2073C>T (p.Asp691=)
c.700C>T (n.700C>T)
c.477C>T (p.Asp159=)
c.1503C>T (p.Asp501=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.67711590A>CCA413423353ARc.*422A>C (n.*422A>C)
c.2074A>C (p.Asn692His)
c.701A>C (n.701A>C)
c.478A>C (p.Asn160His)
c.1504A>C (p.Asn502His)
Xg.67711590A>GCA413423354ARc.*422A>G (n.*422A>G)
c.2074A>G (p.Asn692Asp)
c.701A>G (n.701A>G)
c.478A>G (p.Asn160Asp)
c.1504A>G (p.Asn502Asp)
Xg.67711590A>TCA413423355ARc.*422A>T (n.*422A>T)
c.2074A>T (p.Asn692Tyr)
c.701A>T (n.701A>T)
c.478A>T (p.Asn160Tyr)
c.1504A>T (p.Asn502Tyr)
dbSNP
Xg.67711591A>CCA413423356ARc.*423A>C (n.*423A>C)
c.2075A>C (p.Asn692Thr)
c.702A>C (n.702A>C)
c.479A>C (p.Asn160Thr)
c.1505A>C (p.Asn502Thr)
dbSNP
Xg.67711591A>GCA413423357ARc.*423A>G (n.*423A>G)
c.2075A>G (p.Asn692Ser)
c.702A>G (n.702A>G)
c.479A>G (p.Asn160Ser)
c.1505A>G (p.Asn502Ser)
dbSNP
Xg.67711591A>TCA413423358ARc.*423A>T (n.*423A>T)
c.2075A>T (p.Asn692Ile)
c.702A>T (n.702A>T)
c.479A>T (p.Asn160Ile)
c.1505A>T (p.Asn502Ile)
dbSNP
Xg.67711592C>ACA413423359ARc.*424C>A (n.*424C>A)
c.2076C>A (p.Asn692Lys)
c.703C>A (n.703C>A)
c.480C>A (p.Asn160Lys)
c.1506C>A (p.Asn502Lys)
ClinVar dbSNP
Xg.67711592C>GCA413423360ARc.*424C>G (n.*424C>G)
c.2076C>G (p.Asn692Lys)
c.703C>G (n.703C>G)
c.480C>G (p.Asn160Lys)
c.1506C>G (p.Asn502Lys)
dbSNP
Xg.67711592C>TCA517048428ARc.*424C>T (n.*424C>T)
c.2076C>T (p.Asn692=)
c.703C>T (n.703C>T)
c.480C>T (p.Asn160=)
c.1506C>T (p.Asn502=)
Xg.67711593A>CCA413423363ARc.*425A>C (n.*425A>C)
c.2077A>C (p.Asn693His)
c.704A>C (n.704A>C)
c.481A>C (p.Asn161His)
c.1507A>C (p.Asn503His)
dbSNP
Xg.67711593A>GCA413423362ARc.*425A>G (n.*425A>G)
c.2077A>G (p.Asn693Asp)
c.704A>G (n.704A>G)
c.481A>G (p.Asn161Asp)
c.1507A>G (p.Asn503Asp)
dbSNP

Number of alleles fetched