Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317555G>ACA3071924FAT4c.1144G>A (p.Val382Met)
c.-55+1578G>A (n.-55+1578G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317555G>CCA358117289FAT4c.1144G>C (p.Val382Leu)
c.-55+1578G>C (n.-55+1578G>C)
4g.125317555G=CA1491600122FAT4c.1144G= (p.Val382=)
c.-55+1578G= (n.-55+1578G=)
4g.125317555G>TCA358117290FAT4c.1144G>T (p.Val382Leu)
c.-55+1578G>T (n.-55+1578G>T)
4g.125317556T>ACA358117291FAT4c.1145T>A (p.Val382Glu)
c.-55+1579T>A (n.-55+1579T>A)
4g.125317556T>CCA358117293FAT4c.1145T>C (p.Val382Ala)
c.-55+1579T>C (n.-55+1579T>C)
4g.125317556T>GCA358117292FAT4c.1145T>G (p.Val382Gly)
c.-55+1579T>G (n.-55+1579T>G)
4g.125317557G>ACA441366619FAT4c.1146G>A (p.Val382=)
c.-55+1580G>A (n.-55+1580G>A)
gnomAD v4
4g.125317557G>CCA441366620FAT4c.1146G>C (p.Val382=)
c.-55+1580G>C (n.-55+1580G>C)
4g.125317557G>TCA441366621FAT4c.1146G>T (p.Val382=)
c.-55+1580G>T (n.-55+1580G>T)
4g.125317558A>CCA358117294FAT4c.1147A>C (p.Thr383Pro)
c.-55+1581A>C (n.-55+1581A>C)
4g.125317558A>GCA358117295FAT4c.1147A>G (p.Thr383Ala)
c.-55+1581A>G (n.-55+1581A>G)
4g.125317558A>TCA358117296FAT4c.1147A>T (p.Thr383Ser)
c.-55+1581A>T (n.-55+1581A>T)
4g.125317559C>ACA358117297FAT4c.1148C>A (p.Thr383Lys)
c.-55+1582C>A (n.-55+1582C>A)
ClinVar gnomAD v4
4g.125317559C>GCA358117298FAT4c.1148C>G (p.Thr383Arg)
c.-55+1582C>G (n.-55+1582C>G)
4g.125317559C>TCA358117299FAT4c.1148C>T (p.Thr383Met)
c.-55+1582C>T (n.-55+1582C>T)
ClinVar gnomAD v4
4g.125317560G>ACA3071925FAT4c.1149G>A (p.Thr383=)
c.-55+1583G>A (n.-55+1583G>A)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317560G>CCA441366625FAT4c.1149G>C (p.Thr383=)
c.-55+1583G>C (n.-55+1583G>C)
gnomAD v4
4g.125317560G=CA1491600130FAT4c.1149G= (p.Thr383=)
c.-55+1583G= (n.-55+1583G=)
4g.125317560G>TCA441366626FAT4c.1149G>T (p.Thr383=)
c.-55+1583G>T (n.-55+1583G>T)
4g.125317561G>ACA358117300FAT4c.1150G>A (p.Asp384Asn)
c.-55+1584G>A (n.-55+1584G>A)
4g.125317561G>CCA358117301FAT4c.1150G>C (p.Asp384His)
c.-55+1584G>C (n.-55+1584G>C)
4g.125317561G>TCA358117302FAT4c.1150G>T (p.Asp384Tyr)
c.-55+1584G>T (n.-55+1584G>T)
4g.125317562A>CCA358117305FAT4c.1151A>C (p.Asp384Ala)
c.-55+1585A>C (n.-55+1585A>C)
4g.125317562A>GCA358117304FAT4c.1151A>G (p.Asp384Gly)
c.-55+1585A>G (n.-55+1585A>G)
4g.125317562A>TCA358117303FAT4c.1151A>T (p.Asp384Val)
c.-55+1585A>T (n.-55+1585A>T)
4g.125317563C>ACA358117306FAT4c.1152C>A (p.Asp384Glu)
c.-55+1586C>A (n.-55+1586C>A)
4g.125317563C>GCA358117307FAT4c.1152C>G (p.Asp384Glu)
c.-55+1586C>G (n.-55+1586C>G)
4g.125317563C>TCA441366629FAT4c.1152C>T (p.Asp384=)
c.-55+1586C>T (n.-55+1586C>T)
gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317564G>ACA358117308FAT4c.1153G>A (p.Ala385Thr)
c.-55+1587G>A (n.-55+1587G>A)
COSMIC COSMIC
4g.125317564G>CCA358117309FAT4c.1153G>C (p.Ala385Pro)
c.-55+1587G>C (n.-55+1587G>C)
4g.125317564G=CA1491600136FAT4c.1153G= (p.Ala385=)
c.-55+1587G= (n.-55+1587G=)
4g.125317564G>TCA358117310FAT4c.1153G>T (p.Ala385Ser)
c.-55+1587G>T (n.-55+1587G>T)
dbSNP gnomAD v2 gnomAD v4
4g.125317565C>ACA358117311FAT4c.1154C>A (p.Ala385Glu)
c.-55+1588C>A (n.-55+1588C>A)
4g.125317565C=CA1491600140FAT4c.1154C= (p.Ala385=)
c.-55+1588C= (n.-55+1588C=)
4g.125317565C>GCA358117312FAT4c.1154C>G (p.Ala385Gly)
c.-55+1588C>G (n.-55+1588C>G)
dbSNP gnomAD v3 gnomAD v4
4g.125317565C>TCA358117313FAT4c.1154C>T (p.Ala385Val)
c.-55+1588C>T (n.-55+1588C>T)
4g.125317566A>CCA441366634FAT4c.1155A>C (p.Ala385=)
c.-55+1589A>C (n.-55+1589A>C)
4g.125317566A>GCA441366635FAT4c.1155A>G (p.Ala385=)
c.-55+1589A>G (n.-55+1589A>G)
4g.125317566A>TCA441366636FAT4c.1155A>T (p.Ala385=)
c.-55+1589A>T (n.-55+1589A>T)
4g.125317567G>ACA358117314FAT4c.1156G>A (p.Asp386Asn)
c.-55+1590G>A (n.-55+1590G>A)
4g.125317567G>CCA358117315FAT4c.1156G>C (p.Asp386His)
c.-55+1590G>C (n.-55+1590G>C)
gnomAD v4
4g.125317567G>TCA358117316FAT4c.1156G>T (p.Asp386Tyr)
c.-55+1590G>T (n.-55+1590G>T)
4g.125317568A>CCA358117317FAT4c.1157A>C (p.Asp386Ala)
c.-55+1591A>C (n.-55+1591A>C)
4g.125317568A>GCA358117318FAT4c.1157A>G (p.Asp386Gly)
c.-55+1591A>G (n.-55+1591A>G)
4g.125317568A>TCA358117319FAT4c.1157A>T (p.Asp386Val)
c.-55+1591A>T (n.-55+1591A>T)
4g.125317569T>ACA358117320FAT4c.1158T>A (p.Asp386Glu)
c.-55+1592T>A (n.-55+1592T>A)
4g.125317569T>CCA441366643FAT4c.1158T>C (p.Asp386=)
c.-55+1592T>C (n.-55+1592T>C)
4g.125317569T>GCA358117321FAT4c.1158T>G (p.Asp386Glu)
c.-55+1592T>G (n.-55+1592T>G)
4g.125317569_125317570delCA2517501271FAT4c.1158_1159del (p.Pro388ArgfsTer15)
c.-55+1592_-55+1593del (n.-55+1592_-55+1593del)

Number of alleles fetched