Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
4g.125317570T>ACA358117322FAT4c.1159T>A (p.Ser387Thr)
c.-55+1593T>A (n.-55+1593T>A)
4g.125317570T>CCA358117323FAT4c.1159T>C (p.Ser387Pro)
c.-55+1593T>C (n.-55+1593T>C)
4g.125317570T>GCA358117324FAT4c.1159T>G (p.Ser387Ala)
c.-55+1593T>G (n.-55+1593T>G)
4g.125317571C>ACA358117325FAT4c.1160C>A (p.Ser387Tyr)
c.-55+1594C>A (n.-55+1594C>A)
4g.125317571C>GCA358117326FAT4c.1160C>G (p.Ser387Cys)
c.-55+1594C>G (n.-55+1594C>G)
gnomAD v4
4g.125317571C>TCA358117327FAT4c.1160C>T (p.Ser387Phe)
c.-55+1594C>T (n.-55+1594C>T)
4g.125317572T>ACA441366649FAT4c.1161T>A (p.Ser387=)
c.-55+1595T>A (n.-55+1595T>A)
4g.125317572T>CCA441366651FAT4c.1161T>C (p.Ser387=)
c.-55+1595T>C (n.-55+1595T>C)
4g.125317572T>GCA441366650FAT4c.1161T>G (p.Ser387=)
c.-55+1595T>G (n.-55+1595T>G)
4g.125317573C>ACA358117328FAT4c.1162C>A (p.Pro388Thr)
c.-55+1596C>A (n.-55+1596C>A)
4g.125317573C=CA1491600144FAT4c.1162C= (p.Pro388=)
c.-55+1596C= (n.-55+1596C=)
4g.125317573C>GCA358117329FAT4c.1162C>G (p.Pro388Ala)
c.-55+1596C>G (n.-55+1596C>G)
4g.125317573C>TCA3071926FAT4c.1162C>T (p.Pro388Ser)
c.-55+1596C>T (n.-55+1596C>T)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched