Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.104703340C>ACA391213255INF2c.553C>A (p.Leu185Ile)
c.437C>A (p.Ala146Asp)
c.542C>A (p.Ala181Asp)
n.755C>A
c.649C>A (p.Leu217Ile)
n.778C>A
n.754C>A
14g.104703340C>GCA391213256INF2c.553C>G (p.Leu185Val)
c.437C>G (p.Ala146Gly)
c.542C>G (p.Ala181Gly)
n.755C>G
c.649C>G (p.Leu217Val)
n.778C>G
n.754C>G
14g.104703340C>TCA391213257INF2c.553C>T (p.Leu185Phe)
c.437C>T (p.Ala146Val)
c.542C>T (p.Ala181Val)
n.755C>T
c.649C>T (p.Leu217Phe)
n.778C>T
n.754C>T
14g.104703341T>ACA391213258INF2c.554T>A (p.Leu185His)
c.438T>A (p.Ala146=)
c.543T>A (p.Ala181=)
n.756T>A
c.650T>A (p.Leu217His)
n.779T>A
n.755T>A
14g.104703341T>CCA391213259INF2c.554T>C (p.Leu185Pro)
c.438T>C (p.Ala146=)
c.543T>C (p.Ala181=)
n.756T>C
c.650T>C (p.Leu217Pro)
n.779T>C
n.755T>C
 ClinVar dbSNP
14g.104703341T>GCA391213260INF2c.554T>G (p.Leu185Arg)
c.438T>G (p.Ala146=)
c.543T>G (p.Ala181=)
n.756T>G
c.650T>G (p.Leu217Arg)
n.779T>G
n.755T>G
14g.104703341T=CA2160925623INF2c.554T= (p.Leu185=)
c.438T= (p.Ala146=)
c.543T= (p.Ala181=)
n.756T=
c.650T= (p.Leu217=)
n.779T=
n.755T=
14g.104703342C>ACA488715439INF2c.555C>A (p.Leu185=)
c.439C>A (p.Leu147Ile)
c.544C>A (p.Leu182Ile)
n.757C>A
c.651C>A (p.Leu217=)
n.780C>A
n.756C>A
14g.104703342C=CA2160925624INF2c.555C= (p.Leu185=)
c.439C= (p.Leu147=)
c.544C= (p.Leu182=)
n.757C=
c.651C= (p.Leu217=)
n.780C=
n.756C=
14g.104703342C>GCA488715438INF2c.555C>G (p.Leu185=)
c.439C>G (p.Leu147Val)
c.544C>G (p.Leu182Val)
n.757C>G
c.651C>G (p.Leu217=)
n.780C>G
n.756C>G
 dbSNP
14g.104703342C>TCA7372328INF2c.555C>T (p.Leu185=)
c.439C>T (p.Leu147Phe)
c.544C>T (p.Leu182Phe)
n.757C>T
c.651C>T (p.Leu217=)
n.780C>T
n.756C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104703343T>ACA391213261INF2c.556T>A (p.Ser186Thr)
c.440T>A (p.Leu147His)
c.545T>A (p.Leu182His)
n.758T>A
c.652T>A (p.Ser218Thr)
n.781T>A
n.757T>A
14g.104703343T>CCA114722INF2c.556T>C (p.Ser186Pro)
c.440T>C (p.Leu147Pro)
c.545T>C (p.Leu182Pro)
n.758T>C
c.652T>C (p.Ser218Pro)
n.781T>C
n.757T>C
 ClinVar dbSNP
14g.104703343T>GCA391213262INF2c.556T>G (p.Ser186Ala)
c.440T>G (p.Leu147Arg)
c.545T>G (p.Leu182Arg)
n.758T>G
c.652T>G (p.Ser218Ala)
n.781T>G
n.757T>G
 gnomAD v4
14g.104703343T=CA2160925625INF2c.556T= (p.Ser186=)
c.440T= (p.Leu147=)
c.545T= (p.Leu182=)
n.758T=
c.652T= (p.Ser218=)
n.781T=
n.757T=
14g.104703344C>ACA391213265INF2c.557C>A (p.Ser186Tyr)
c.441C>A (p.Leu147=)
c.546C>A (p.Leu182=)
n.759C>A
c.653C>A (p.Ser218Tyr)
n.782C>A
n.758C>A
14g.104703344C>GCA391213263INF2c.557C>G (p.Ser186Cys)
c.441C>G (p.Leu147=)
c.546C>G (p.Leu182=)
n.759C>G
c.653C>G (p.Ser218Cys)
n.782C>G
n.758C>G
 dbSNP
14g.104703344C>TCA391213264INF2c.557C>T (p.Ser186Phe)
c.441C>T (p.Leu147=)
c.546C>T (p.Leu182=)
n.759C>T
c.653C>T (p.Ser218Phe)
n.782C>T
n.758C>T
14g.104703345C>ACA488715444INF2c.558C>A (p.Ser186=)
c.442C>A (p.Arg148=)
c.547C>A (p.Arg183=)
n.760C>A
c.654C>A (p.Ser218=)
n.783C>A
n.759C>A
14g.104703345C=CA2160925626INF2c.558C= (p.Ser186=)
c.442C= (p.Arg148=)
c.547C= (p.Arg183=)
n.760C=
c.654C= (p.Ser218=)
n.783C=
n.759C=
14g.104703345C>GCA488715443INF2c.558C>G (p.Ser186=)
c.442C>G (p.Arg148Gly)
c.547C>G (p.Arg183Gly)
n.760C>G
c.654C>G (p.Ser218=)
n.783C>G
n.759C>G
14g.104703345C>TCA7372329INF2c.558C>T (p.Ser186=)
c.442C>T (p.Arg148Trp)
c.547C>T (p.Arg183Trp)
n.760C>T
c.654C>T (p.Ser218=)
n.783C>T
n.759C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104703346G>ACA7372330INF2c.559G>A (p.Gly187Ser)
c.443G>A (p.Arg148Gln)
c.548G>A (p.Arg183Gln)
n.761G>A
c.655G>A (p.Gly219Ser)
n.784G>A
n.760G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.104703346G>CCA391213266INF2c.559G>C (p.Gly187Arg)
c.443G>C (p.Arg148Pro)
c.548G>C (p.Arg183Pro)
n.761G>C
c.655G>C (p.Gly219Arg)
n.784G>C
n.760G>C
14g.104703346G=CA2160925627INF2c.559G= (p.Gly187=)
c.443G= (p.Arg148=)
c.548G= (p.Arg183=)
n.761G=
c.655G= (p.Gly219=)
n.784G=
n.760G=
14g.104703346G>TCA391213267INF2c.559G>T (p.Gly187Cys)
c.443G>T (p.Arg148Leu)
c.548G>T (p.Arg183Leu)
n.761G>T
c.655G>T (p.Gly219Cys)
n.784G>T
n.760G>T
14g.104703347G>ACA391213268INF2c.560G>A (p.Gly187Asp)
c.444G>A (p.Arg148=)
c.549G>A (p.Arg183=)
n.762G>A
c.656G>A (p.Gly219Asp)
n.785G>A
n.761G>A
 dbSNP gnomAD v3 gnomAD v4
14g.104703347G>CCA391213269INF2c.560G>C (p.Gly187Ala)
c.444G>C (p.Arg148=)
c.549G>C (p.Arg183=)
n.762G>C
c.656G>C (p.Gly219Ala)
n.785G>C
n.761G>C
14g.104703347G=CA2160925628INF2c.560G= (p.Gly187=)
c.444G= (p.Arg148=)
c.549G= (p.Arg183=)
n.762G=
c.656G= (p.Gly219=)
n.785G=
n.761G=
14g.104703347G>TCA391213270INF2c.560G>T (p.Gly187Val)
c.444G>T (p.Arg148=)
c.549G>T (p.Arg183=)
n.762G>T
c.656G>T (p.Gly219Val)
n.785G>T
n.761G>T
14g.104703348C>ACA488715447INF2c.561C>A (p.Gly187=)
c.445C>A (p.Gln149Lys)
c.550C>A (p.Gln184Lys)
n.763C>A
c.657C>A (p.Gly219=)
n.786C>A
n.762C>A
14g.104703348C>GCA488715448INF2c.561C>G (p.Gly187=)
c.445C>G (p.Gln149Glu)
c.550C>G (p.Gln184Glu)
n.763C>G
c.657C>G (p.Gly219=)
n.786C>G
n.762C>G
14g.104703348C>TCA488715449INF2c.561C>T (p.Gly187=)
c.445C>T (p.Gln149Ter)
c.550C>T (p.Gln184Ter)
n.763C>T
c.657C>T (p.Gly219=)
n.786C>T
n.762C>T
14g.104703349A>CCA391213271INF2c.562A>C (p.Ser188Arg)
c.446A>C (p.Gln149Pro)
c.551A>C (p.Gln184Pro)
n.764A>C
c.658A>C (p.Ser220Arg)
n.787A>C
n.763A>C
14g.104703349A>GCA391213272INF2c.562A>G (p.Ser188Gly)
c.446A>G (p.Gln149Arg)
c.551A>G (p.Gln184Arg)
n.764A>G
c.658A>G (p.Ser220Gly)
n.787A>G
n.763A>G
14g.104703349A>TCA391213273INF2c.562A>T (p.Ser188Cys)
c.446A>T (p.Gln149Leu)
c.551A>T (p.Gln184Leu)
n.764A>T
c.658A>T (p.Ser220Cys)
n.787A>T
n.763A>T
14g.104703350G>ACA7372331INF2c.563G>A (p.Ser188Asn)
c.447G>A (p.Gln149=)
c.552G>A (p.Gln184=)
n.765G>A
c.659G>A (p.Ser220Asn)
n.788G>A
n.764G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.104703350G>CCA391213275INF2c.563G>C (p.Ser188Thr)
c.447G>C (p.Gln149His)
c.552G>C (p.Gln184His)
n.765G>C
c.659G>C (p.Ser220Thr)
n.788G>C
n.764G>C
14g.104703350G=CA2160925629INF2c.563G= (p.Ser188=)
c.447G= (p.Gln149=)
c.552G= (p.Gln184=)
n.765G=
c.659G= (p.Ser220=)
n.788G=
n.764G=
14g.104703350G>TCA391213274INF2c.563G>T (p.Ser188Ile)
c.447G>T (p.Gln149His)
c.552G>T (p.Gln184His)
n.765G>T
c.659G>T (p.Ser220Ile)
n.788G>T
n.764G>T
14g.104703351C>ACA391213276INF2c.564C>A (p.Ser188Arg)
c.448C>A (p.Arg150=)
c.553C>A (p.Arg185=)
n.766C>A
c.660C>A (p.Ser220Arg)
n.789C>A
n.765C>A
14g.104703351C=CA2160925630INF2c.564C= (p.Ser188=)
c.448C= (p.Arg150=)
c.553C= (p.Arg185=)
n.766C=
c.660C= (p.Ser220=)
n.789C=
n.765C=
14g.104703351C>GCA391213277INF2c.564C>G (p.Ser188Arg)
c.448C>G (p.Arg150Gly)
c.553C>G (p.Arg185Gly)
n.766C>G
c.660C>G (p.Ser220Arg)
n.789C>G
n.765C>G
14g.104703351C>TCA7372332INF2c.564C>T (p.Ser188=)
c.448C>T (p.Arg150Ter)
c.553C>T (p.Arg185Ter)
n.766C>T
c.660C>T (p.Ser220=)
n.789C>T
n.765C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.104703352G>ACA267318861INF2c.565G>A (p.Asp189Asn)
c.449G>A (p.Arg150Gln)
c.554G>A (p.Arg185Gln)
n.767G>A
c.661G>A (p.Asp221Asn)
n.790G>A
n.766G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.104703352G>CCA391213278INF2c.565G>C (p.Asp189His)
c.449G>C (p.Arg150Pro)
c.554G>C (p.Arg185Pro)
n.767G>C
c.661G>C (p.Asp221His)
n.790G>C
n.766G>C
14g.104703352G=CA2160925631INF2c.565G= (p.Asp189=)
c.449G= (p.Arg150=)
c.554G= (p.Arg185=)
n.767G=
c.661G= (p.Asp221=)
n.790G=
n.766G=
14g.104703352G>TCA391213279INF2c.565G>T (p.Asp189Tyr)
c.449G>T (p.Arg150Leu)
c.554G>T (p.Arg185Leu)
n.767G>T
c.661G>T (p.Asp221Tyr)
n.790G>T
n.766G>T
14g.104703353A>CCA391213280INF2c.566A>C (p.Asp189Ala)
c.450A>C (p.Arg150=)
c.555A>C (p.Arg185=)
n.768A>C
c.662A>C (p.Asp221Ala)
n.791A>C
n.767A>C
14g.104703353A>GCA391213281INF2c.566A>G (p.Asp189Gly)
c.450A>G (p.Arg150=)
c.555A>G (p.Arg185=)
n.768A>G
c.662A>G (p.Asp221Gly)
n.791A>G
n.767A>G

Number of alleles fetched