Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125317555G>A | CA3071924 | FAT4 | c.1144G>A (p.Val382Met) c.-55+1578G>A (n.-55+1578G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317555G>C | CA358117289 | FAT4 | c.1144G>C (p.Val382Leu) c.-55+1578G>C (n.-55+1578G>C) | |
4 | g.125317555G= | CA1491600122 | FAT4 | c.1144G= (p.Val382=) c.-55+1578G= (n.-55+1578G=) | |
4 | g.125317555G>T | CA358117290 | FAT4 | c.1144G>T (p.Val382Leu) c.-55+1578G>T (n.-55+1578G>T) | |
4 | g.125317556T>A | CA358117291 | FAT4 | c.1145T>A (p.Val382Glu) c.-55+1579T>A (n.-55+1579T>A) | |
4 | g.125317556T>C | CA358117293 | FAT4 | c.1145T>C (p.Val382Ala) c.-55+1579T>C (n.-55+1579T>C) | |
4 | g.125317556T>G | CA358117292 | FAT4 | c.1145T>G (p.Val382Gly) c.-55+1579T>G (n.-55+1579T>G) | |
4 | g.125317557G>A | CA441366619 | FAT4 | c.1146G>A (p.Val382=) c.-55+1580G>A (n.-55+1580G>A) | gnomAD v4 |
4 | g.125317557G>C | CA441366620 | FAT4 | c.1146G>C (p.Val382=) c.-55+1580G>C (n.-55+1580G>C) | |
4 | g.125317557G>T | CA441366621 | FAT4 | c.1146G>T (p.Val382=) c.-55+1580G>T (n.-55+1580G>T) | |
4 | g.125317558A>C | CA358117294 | FAT4 | c.1147A>C (p.Thr383Pro) c.-55+1581A>C (n.-55+1581A>C) | |
4 | g.125317558A>G | CA358117295 | FAT4 | c.1147A>G (p.Thr383Ala) c.-55+1581A>G (n.-55+1581A>G) | |
4 | g.125317558A>T | CA358117296 | FAT4 | c.1147A>T (p.Thr383Ser) c.-55+1581A>T (n.-55+1581A>T) | |
4 | g.125317559C>A | CA358117297 | FAT4 | c.1148C>A (p.Thr383Lys) c.-55+1582C>A (n.-55+1582C>A) | ClinVar gnomAD v4 |
4 | g.125317559C>G | CA358117298 | FAT4 | c.1148C>G (p.Thr383Arg) c.-55+1582C>G (n.-55+1582C>G) | |
4 | g.125317559C>T | CA358117299 | FAT4 | c.1148C>T (p.Thr383Met) c.-55+1582C>T (n.-55+1582C>T) | ClinVar gnomAD v4 |
4 | g.125317560G>A | CA3071925 | FAT4 | c.1149G>A (p.Thr383=) c.-55+1583G>A (n.-55+1583G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.125317560G>C | CA441366625 | FAT4 | c.1149G>C (p.Thr383=) c.-55+1583G>C (n.-55+1583G>C) | gnomAD v4 |
4 | g.125317560G= | CA1491600130 | FAT4 | c.1149G= (p.Thr383=) c.-55+1583G= (n.-55+1583G=) | |
4 | g.125317560G>T | CA441366626 | FAT4 | c.1149G>T (p.Thr383=) c.-55+1583G>T (n.-55+1583G>T) | |
4 | g.125317561G>A | CA358117300 | FAT4 | c.1150G>A (p.Asp384Asn) c.-55+1584G>A (n.-55+1584G>A) | |
4 | g.125317561G>C | CA358117301 | FAT4 | c.1150G>C (p.Asp384His) c.-55+1584G>C (n.-55+1584G>C) | |
4 | g.125317561G>T | CA358117302 | FAT4 | c.1150G>T (p.Asp384Tyr) c.-55+1584G>T (n.-55+1584G>T) | |
4 | g.125317562A>C | CA358117305 | FAT4 | c.1151A>C (p.Asp384Ala) c.-55+1585A>C (n.-55+1585A>C) | |
4 | g.125317562A>G | CA358117304 | FAT4 | c.1151A>G (p.Asp384Gly) c.-55+1585A>G (n.-55+1585A>G) | |
4 | g.125317562A>T | CA358117303 | FAT4 | c.1151A>T (p.Asp384Val) c.-55+1585A>T (n.-55+1585A>T) | |
4 | g.125317563C>A | CA358117306 | FAT4 | c.1152C>A (p.Asp384Glu) c.-55+1586C>A (n.-55+1586C>A) | |
4 | g.125317563C>G | CA358117307 | FAT4 | c.1152C>G (p.Asp384Glu) c.-55+1586C>G (n.-55+1586C>G) | |
4 | g.125317563C>T | CA441366629 | FAT4 | c.1152C>T (p.Asp384=) c.-55+1586C>T (n.-55+1586C>T) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317564G>A | CA358117308 | FAT4 | c.1153G>A (p.Ala385Thr) c.-55+1587G>A (n.-55+1587G>A) | COSMIC COSMIC |
4 | g.125317564G>C | CA358117309 | FAT4 | c.1153G>C (p.Ala385Pro) c.-55+1587G>C (n.-55+1587G>C) | |
4 | g.125317564G= | CA1491600136 | FAT4 | c.1153G= (p.Ala385=) c.-55+1587G= (n.-55+1587G=) | |
4 | g.125317564G>T | CA358117310 | FAT4 | c.1153G>T (p.Ala385Ser) c.-55+1587G>T (n.-55+1587G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317565C>A | CA358117311 | FAT4 | c.1154C>A (p.Ala385Glu) c.-55+1588C>A (n.-55+1588C>A) | |
4 | g.125317565C= | CA1491600140 | FAT4 | c.1154C= (p.Ala385=) c.-55+1588C= (n.-55+1588C=) | |
4 | g.125317565C>G | CA358117312 | FAT4 | c.1154C>G (p.Ala385Gly) c.-55+1588C>G (n.-55+1588C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317565C>T | CA358117313 | FAT4 | c.1154C>T (p.Ala385Val) c.-55+1588C>T (n.-55+1588C>T) | |
4 | g.125317566A>C | CA441366634 | FAT4 | c.1155A>C (p.Ala385=) c.-55+1589A>C (n.-55+1589A>C) | |
4 | g.125317566A>G | CA441366635 | FAT4 | c.1155A>G (p.Ala385=) c.-55+1589A>G (n.-55+1589A>G) | |
4 | g.125317566A>T | CA441366636 | FAT4 | c.1155A>T (p.Ala385=) c.-55+1589A>T (n.-55+1589A>T) | |
4 | g.125317567G>A | CA358117314 | FAT4 | c.1156G>A (p.Asp386Asn) c.-55+1590G>A (n.-55+1590G>A) | |
4 | g.125317567G>C | CA358117315 | FAT4 | c.1156G>C (p.Asp386His) c.-55+1590G>C (n.-55+1590G>C) | gnomAD v4 |
4 | g.125317567G>T | CA358117316 | FAT4 | c.1156G>T (p.Asp386Tyr) c.-55+1590G>T (n.-55+1590G>T) | |
4 | g.125317568A>C | CA358117317 | FAT4 | c.1157A>C (p.Asp386Ala) c.-55+1591A>C (n.-55+1591A>C) | |
4 | g.125317568A>G | CA358117318 | FAT4 | c.1157A>G (p.Asp386Gly) c.-55+1591A>G (n.-55+1591A>G) | |
4 | g.125317568A>T | CA358117319 | FAT4 | c.1157A>T (p.Asp386Val) c.-55+1591A>T (n.-55+1591A>T) | |
4 | g.125317569T>A | CA358117320 | FAT4 | c.1158T>A (p.Asp386Glu) c.-55+1592T>A (n.-55+1592T>A) | |
4 | g.125317569T>C | CA441366643 | FAT4 | c.1158T>C (p.Asp386=) c.-55+1592T>C (n.-55+1592T>C) | |
4 | g.125317569T>G | CA358117321 | FAT4 | c.1158T>G (p.Asp386Glu) c.-55+1592T>G (n.-55+1592T>G) | |
4 | g.125317569_125317570del | CA2517501271 | FAT4 | c.1158_1159del (p.Pro388ArgfsTer15) c.-55+1592_-55+1593del (n.-55+1592_-55+1593del) |