UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.125317548G>A | CA3071923 | FAT4 | c.1137G>A (p.Leu379=) c.-55+1571G>A (n.-55+1571G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317548G>C | CA441366599 | FAT4 | c.1137G>C (p.Leu379=) c.-55+1571G>C (n.-55+1571G>C) | gnomAD v4 |
| 4 | g.125317548G= | CA1491600115 | FAT4 | c.1137G= (p.Leu379=) c.-55+1571G= (n.-55+1571G=) | |
| 4 | g.125317548G>T | CA441366600 | FAT4 | c.1137G>T (p.Leu379=) c.-55+1571G>T (n.-55+1571G>T) | |
| 4 | g.125317549C>A | CA358117278 | FAT4 | c.1138C>A (p.Leu380Ile) c.-55+1572C>A (n.-55+1572C>A) | |
| 4 | g.125317549C>G | CA358117277 | FAT4 | c.1138C>G (p.Leu380Val) c.-55+1572C>G (n.-55+1572C>G) | |
| 4 | g.125317549C>T | CA358117279 | FAT4 | c.1138C>T (p.Leu380Phe) c.-55+1572C>T (n.-55+1572C>T) | gnomAD v4 |
| 4 | g.125317550T>A | CA358117280 | FAT4 | c.1139T>A (p.Leu380His) c.-55+1573T>A (n.-55+1573T>A) | |
| 4 | g.125317550T>C | CA358117281 | FAT4 | c.1139T>C (p.Leu380Pro) c.-55+1573T>C (n.-55+1573T>C) | |
| 4 | g.125317550T>G | CA358117282 | FAT4 | c.1139T>G (p.Leu380Arg) c.-55+1573T>G (n.-55+1573T>G) | |
| 4 | g.125317551C>A | CA441366606 | FAT4 | c.1140C>A (p.Leu380=) c.-55+1574C>A (n.-55+1574C>A) | gnomAD v4 |
| 4 | g.125317551C>G | CA441366605 | FAT4 | c.1140C>G (p.Leu380=) c.-55+1574C>G (n.-55+1574C>G) | |
| 4 | g.125317551C>T | CA441366604 | FAT4 | c.1140C>T (p.Leu380=) c.-55+1574C>T (n.-55+1574C>T) | gnomAD v4 |
| 4 | g.125317552A>C | CA358117283 | FAT4 | c.1141A>C (p.Thr381Pro) c.-55+1575A>C (n.-55+1575A>C) | |
| 4 | g.125317552A>G | CA358117284 | FAT4 | c.1141A>G (p.Thr381Ala) c.-55+1575A>G (n.-55+1575A>G) | |
| 4 | g.125317552A>T | CA358117285 | FAT4 | c.1141A>T (p.Thr381Ser) c.-55+1575A>T (n.-55+1575A>T) | |
| 4 | g.125317553C>A | CA358117286 | FAT4 | c.1142C>A (p.Thr381Asn) c.-55+1576C>A (n.-55+1576C>A) | |
| 4 | g.125317553C>G | CA358117287 | FAT4 | c.1142C>G (p.Thr381Ser) c.-55+1576C>G (n.-55+1576C>G) | |
| 4 | g.125317553C>T | CA358117288 | FAT4 | c.1142C>T (p.Thr381Ile) c.-55+1576C>T (n.-55+1576C>T) | |
| 4 | g.125317554C>A | CA441366611 | FAT4 | c.1143C>A (p.Thr381=) c.-55+1577C>A (n.-55+1577C>A) | |
| 4 | g.125317554C= | CA1491600118 | FAT4 | c.1143C= (p.Thr381=) c.-55+1577C= (n.-55+1577C=) | |
| 4 | g.125317554C>G | CA441366613 | FAT4 | c.1143C>G (p.Thr381=) c.-55+1577C>G (n.-55+1577C>G) | |
| 4 | g.125317554C>T | CA104861873 | FAT4 | c.1143C>T (p.Thr381=) c.-55+1577C>T (n.-55+1577C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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) | |
| 4 | g.125317570T>A | CA358117322 | FAT4 | c.1159T>A (p.Ser387Thr) c.-55+1593T>A (n.-55+1593T>A) | |
| 4 | g.125317570T>C | CA358117323 | FAT4 | c.1159T>C (p.Ser387Pro) c.-55+1593T>C (n.-55+1593T>C) | |
| 4 | g.125317570T>G | CA358117324 | FAT4 | c.1159T>G (p.Ser387Ala) c.-55+1593T>G (n.-55+1593T>G) | |
| 4 | g.125317571C>A | CA358117325 | FAT4 | c.1160C>A (p.Ser387Tyr) c.-55+1594C>A (n.-55+1594C>A) | |
| 4 | g.125317571C>G | CA358117326 | FAT4 | c.1160C>G (p.Ser387Cys) c.-55+1594C>G (n.-55+1594C>G) | gnomAD v4 |
| 4 | g.125317571C>T | CA358117327 | FAT4 | c.1160C>T (p.Ser387Phe) c.-55+1594C>T (n.-55+1594C>T) | |
| 4 | g.125317572T>A | CA441366649 | FAT4 | c.1161T>A (p.Ser387=) c.-55+1595T>A (n.-55+1595T>A) | |
| 4 | g.125317572T>C | CA441366651 | FAT4 | c.1161T>C (p.Ser387=) c.-55+1595T>C (n.-55+1595T>C) | |
| 4 | g.125317572T>G | CA441366650 | FAT4 | c.1161T>G (p.Ser387=) c.-55+1595T>G (n.-55+1595T>G) | |
| 4 | g.125317573C>A | CA358117328 | FAT4 | c.1162C>A (p.Pro388Thr) c.-55+1596C>A (n.-55+1596C>A) | |
| 4 | g.125317573C= | CA1491600144 | FAT4 | c.1162C= (p.Pro388=) c.-55+1596C= (n.-55+1596C=) | |
| 4 | g.125317573C>G | CA358117329 | FAT4 | c.1162C>G (p.Pro388Ala) c.-55+1596C>G (n.-55+1596C>G) | |
| 4 | g.125317573C>T | CA3071926 | FAT4 | c.1162C>T (p.Pro388Ser) c.-55+1596C>T (n.-55+1596C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317574C>A | CA358117330 | FAT4 | c.1163C>A (p.Pro388His) c.-55+1597C>A (n.-55+1597C>A) | |
| 4 | g.125317574C= | CA1491600153 | FAT4 | c.1163C= (p.Pro388=) c.-55+1597C= (n.-55+1597C=) | |
| 4 | g.125317574C>G | CA358117331 | FAT4 | c.1163C>G (p.Pro388Arg) c.-55+1597C>G (n.-55+1597C>G) | |
| 4 | g.125317574C>T | CA16042548 | FAT4 | c.1163C>T (p.Pro388Leu) c.-55+1597C>T (n.-55+1597C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317575C>A | CA441366656 | FAT4 | c.1164C>A (p.Pro388=) c.-55+1598C>A (n.-55+1598C>A) | |
| 4 | g.125317575C= | CA1491600163 | FAT4 | c.1164C= (p.Pro388=) c.-55+1598C= (n.-55+1598C=) | |
| 4 | g.125317575C>G | CA441366657 | FAT4 | c.1164C>G (p.Pro388=) c.-55+1598C>G (n.-55+1598C>G) | |
| 4 | g.125317575C>T | CA3071927 | FAT4 | c.1164C>T (p.Pro388=) c.-55+1598C>T (n.-55+1598C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317575_125317576insCA | CA2763419140 | FAT4 | c.1164_1165insCA (p.Ala389GlnfsTer30) c.-55+1598_-55+1599insCA (n.-55+1598_-55+1599insCA) | |
| 4 | g.125317576G>A | CA358117333 | FAT4 | c.1165G>A (p.Ala389Thr) c.-55+1599G>A (n.-55+1599G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317576G>C | CA358117332 | FAT4 | c.1165G>C (p.Ala389Pro) c.-55+1599G>C (n.-55+1599G>C) | |
| 4 | g.125317576G= | CA1491600171 | FAT4 | c.1165G= (p.Ala389=) c.-55+1599G= (n.-55+1599G=) | |
| 4 | g.125317576G>T | CA3071928 | FAT4 | c.1165G>T (p.Ala389Ser) c.-55+1599G>T (n.-55+1599G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317577C>A | CA358117334 | FAT4 | c.1166C>A (p.Ala389Glu) c.-55+1600C>A (n.-55+1600C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317577C= | CA1491600178 | FAT4 | c.1166C= (p.Ala389=) c.-55+1600C= (n.-55+1600C=) | |
| 4 | g.125317577C>G | CA358117335 | FAT4 | c.1166C>G (p.Ala389Gly) c.-55+1600C>G (n.-55+1600C>G) | |
| 4 | g.125317577C>T | CA358117336 | FAT4 | c.1166C>T (p.Ala389Val) c.-55+1600C>T (n.-55+1600C>T) | |
| 4 | g.125317578G>A | CA3071929 | FAT4 | c.1167G>A (p.Ala389=) c.-55+1601G>A (n.-55+1601G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317578G>C | CA441366662 | FAT4 | c.1167G>C (p.Ala389=) c.-55+1601G>C (n.-55+1601G>C) | |
| 4 | g.125317578G= | CA1491600180 | FAT4 | c.1167G= (p.Ala389=) c.-55+1601G= (n.-55+1601G=) | |
| 4 | g.125317578G>T | CA3071930 | FAT4 | c.1167G>T (p.Ala389=) c.-55+1601G>T (n.-55+1601G>T) | dbSNP ExAC |
| 4 | g.125317579G>A | CA358117338 | FAT4 | c.1168G>A (p.Ala390Thr) c.-55+1602G>A (n.-55+1602G>A) | |
| 4 | g.125317579G>C | CA358117337 | FAT4 | c.1168G>C (p.Ala390Pro) c.-55+1602G>C (n.-55+1602G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317579G= | CA1491600188 | FAT4 | c.1168G= (p.Ala390=) c.-55+1602G= (n.-55+1602G=) | |
| 4 | g.125317579G>T | CA3071931 | FAT4 | c.1168G>T (p.Ala390Ser) c.-55+1602G>T (n.-55+1602G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317580C>A | CA358117339 | FAT4 | c.1169C>A (p.Ala390Asp) c.-55+1603C>A (n.-55+1603C>A) | |
| 4 | g.125317580C= | CA1491600198 | FAT4 | c.1169C= (p.Ala390=) c.-55+1603C= (n.-55+1603C=) | |
| 4 | g.125317580C>G | CA358117340 | FAT4 | c.1169C>G (p.Ala390Gly) c.-55+1603C>G (n.-55+1603C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317580C>T | CA358117341 | FAT4 | c.1169C>T (p.Ala390Val) c.-55+1603C>T (n.-55+1603C>T) | |
| 4 | g.125317581C>A | CA441366668 | FAT4 | c.1170C>A (p.Ala390=) c.-55+1604C>A (n.-55+1604C>A) | |
| 4 | g.125317581C>G | CA441366671 | FAT4 | c.1170C>G (p.Ala390=) c.-55+1604C>G (n.-55+1604C>G) | |
| 4 | g.125317581C>T | CA441366673 | FAT4 | c.1170C>T (p.Ala390=) c.-55+1604C>T (n.-55+1604C>T) | gnomAD v4 |
| 4 | g.125317582A>C | CA358117342 | FAT4 | c.1171A>C (p.Asn391His) c.-55+1605A>C (n.-55+1605A>C) | |
| 4 | g.125317582A>G | CA358117343 | FAT4 | c.1171A>G (p.Asn391Asp) c.-55+1605A>G (n.-55+1605A>G) | |
| 4 | g.125317582A>T | CA358117344 | FAT4 | c.1171A>T (p.Asn391Tyr) c.-55+1605A>T (n.-55+1605A>T) | |
| 4 | g.125317583A>C | CA358117345 | FAT4 | c.1172A>C (p.Asn391Thr) c.-55+1606A>C (n.-55+1606A>C) | |
| 4 | g.125317583A>G | CA358117347 | FAT4 | c.1172A>G (p.Asn391Ser) c.-55+1606A>G (n.-55+1606A>G) | |
| 4 | g.125317583A>T | CA358117346 | FAT4 | c.1172A>T (p.Asn391Ile) c.-55+1606A>T (n.-55+1606A>T) | |
| 4 | g.125317584C>A | CA358117348 | FAT4 | c.1173C>A (p.Asn391Lys) c.-55+1607C>A (n.-55+1607C>A) | gnomAD v4 |
| 4 | g.125317584C= | CA1491600203 | FAT4 | c.1173C= (p.Asn391=) c.-55+1607C= (n.-55+1607C=) | |
| 4 | g.125317584C>G | CA358117349 | FAT4 | c.1173C>G (p.Asn391Lys) c.-55+1607C>G (n.-55+1607C>G) | dbSNP |
| 4 | g.125317584C>T | CA3071932 | FAT4 | c.1173C>T (p.Asn391=) c.-55+1607C>T (n.-55+1607C>T) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
| 4 | g.125317585G>A | CA3071933 | FAT4 | c.1174G>A (p.Gly392Arg) c.-55+1608G>A (n.-55+1608G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317585G>C | CA358117350 | FAT4 | c.1174G>C (p.Gly392Arg) c.-55+1608G>C (n.-55+1608G>C) | gnomAD v4 |
| 4 | g.125317585G= | CA1491600205 | FAT4 | c.1174G= (p.Gly392=) c.-55+1608G= (n.-55+1608G=) | |
| 4 | g.125317585G>T | CA358117351 | FAT4 | c.1174G>T (p.Gly392Trp) c.-55+1608G>T (n.-55+1608G>T) | gnomAD v4 |
| 4 | g.125317586G>A | CA358117352 | FAT4 | c.1175G>A (p.Gly392Glu) c.-55+1609G>A (n.-55+1609G>A) | dbSNP |
| 4 | g.125317586G>C | CA358117353 | FAT4 | c.1175G>C (p.Gly392Ala) c.-55+1609G>C (n.-55+1609G>C) | |
| 4 | g.125317586G>T | CA358117354 | FAT4 | c.1175G>T (p.Gly392Val) c.-55+1609G>T (n.-55+1609G>T) | |
| 4 | g.125317587G>A | CA441366682 | FAT4 | c.1176G>A (p.Gly392=) c.-55+1610G>A (n.-55+1610G>A) | gnomAD v4 |
| 4 | g.125317587G>C | CA3071934 | FAT4 | c.1176G>C (p.Gly392=) c.-55+1610G>C (n.-55+1610G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317587G= | CA1491600209 | FAT4 | c.1176G= (p.Gly392=) c.-55+1610G= (n.-55+1610G=) | |
| 4 | g.125317587G>T | CA441366687 | FAT4 | c.1176G>T (p.Gly392=) c.-55+1610G>T (n.-55+1610G>T) | |
| 4 | g.125317588A= | CA1491600213 | FAT4 | c.1177A= (p.Asn393=) c.-55+1611A= (n.-55+1611A=) | |
| 4 | g.125317588A>C | CA358117356 | FAT4 | c.1177A>C (p.Asn393His) c.-55+1611A>C (n.-55+1611A>C) | |
| 4 | g.125317588A>G | CA3071935 | FAT4 | c.1177A>G (p.Asn393Asp) c.-55+1611A>G (n.-55+1611A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317588A>T | CA358117355 | FAT4 | c.1177A>T (p.Asn393Tyr) c.-55+1611A>T (n.-55+1611A>T) | |
| 4 | g.125317589A>C | CA358117357 | FAT4 | c.1178A>C (p.Asn393Thr) c.-55+1612A>C (n.-55+1612A>C) | |
| 4 | g.125317589A>G | CA358117358 | FAT4 | c.1178A>G (p.Asn393Ser) c.-55+1612A>G (n.-55+1612A>G) | gnomAD v4 |
| 4 | g.125317589A>T | CA358117359 | FAT4 | c.1178A>T (p.Asn393Ile) c.-55+1612A>T (n.-55+1612A>T) | |
| 4 | g.125317590C>A | CA358117360 | FAT4 | c.1179C>A (p.Asn393Lys) c.-55+1613C>A (n.-55+1613C>A) | dbSNP gnomAD v4 |
| 4 | g.125317590C= | CA1491600217 | FAT4 | c.1179C= (p.Asn393=) c.-55+1613C= (n.-55+1613C=) | |
| 4 | g.125317590C>G | CA358117361 | FAT4 | c.1179C>G (p.Asn393Lys) c.-55+1613C>G (n.-55+1613C>G) | gnomAD v4 |
| 4 | g.125317590C>T | CA441366692 | FAT4 | c.1179C>T (p.Asn393=) c.-55+1613C>T (n.-55+1613C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317591A>C | CA358117362 | FAT4 | c.1180A>C (p.Ile394Leu) c.-55+1614A>C (n.-55+1614A>C) | |
| 4 | g.125317591A>G | CA358117363 | FAT4 | c.1180A>G (p.Ile394Val) c.-55+1614A>G (n.-55+1614A>G) | gnomAD v4 |
| 4 | g.125317591A>T | CA358117364 | FAT4 | c.1180A>T (p.Ile394Phe) c.-55+1614A>T (n.-55+1614A>T) | |
| 4 | g.125317592T>A | CA358117365 | FAT4 | c.1181T>A (p.Ile394Asn) c.-55+1615T>A (n.-55+1615T>A) | |
| 4 | g.125317592T>C | CA358117366 | FAT4 | c.1181T>C (p.Ile394Thr) c.-55+1615T>C (n.-55+1615T>C) | |
| 4 | g.125317592T>G | CA358117367 | FAT4 | c.1181T>G (p.Ile394Ser) c.-55+1615T>G (n.-55+1615T>G) | |
| 4 | g.125317593C>A | CA441366699 | FAT4 | c.1182C>A (p.Ile394=) c.-55+1616C>A (n.-55+1616C>A) | dbSNP gnomAD v4 |
| 4 | g.125317593C= | CA1491600225 | FAT4 | c.1182C= (p.Ile394=) c.-55+1616C= (n.-55+1616C=) | |
| 4 | g.125317593C>G | CA358117368 | FAT4 | c.1182C>G (p.Ile394Met) c.-55+1616C>G (n.-55+1616C>G) | |
| 4 | g.125317593C>T | CA441366695 | FAT4 | c.1182C>T (p.Ile394=) c.-55+1616C>T (n.-55+1616C>T) | |
| 4 | g.125317594T>A | CA358117371 | FAT4 | c.1183T>A (p.Ser395Thr) c.-55+1617T>A (n.-55+1617T>A) | |
| 4 | g.125317594T>C | CA358117370 | FAT4 | c.1183T>C (p.Ser395Pro) c.-55+1617T>C (n.-55+1617T>C) | |
| 4 | g.125317594T>G | CA358117369 | FAT4 | c.1183T>G (p.Ser395Ala) c.-55+1617T>G (n.-55+1617T>G) | |
| 4 | g.125317595C>A | CA358117372 | FAT4 | c.1184C>A (p.Ser395Tyr) c.-55+1618C>A (n.-55+1618C>A) | |
| 4 | g.125317595C>G | CA358117373 | FAT4 | c.1184C>G (p.Ser395Cys) c.-55+1618C>G (n.-55+1618C>G) | |
| 4 | g.125317595C>T | CA358117374 | FAT4 | c.1184C>T (p.Ser395Phe) c.-55+1618C>T (n.-55+1618C>T) | |
| 4 | g.125317596C>A | CA441366706 | FAT4 | c.1185C>A (p.Ser395=) c.-55+1619C>A (n.-55+1619C>A) | gnomAD v4 |
| 4 | g.125317596C= | CA1491600234 | FAT4 | c.1185C= (p.Ser395=) c.-55+1619C= (n.-55+1619C=) | |
| 4 | g.125317596C>G | CA441366707 | FAT4 | c.1185C>G (p.Ser395=) c.-55+1619C>G (n.-55+1619C>G) | |
| 4 | g.125317596C>T | CA441366708 | FAT4 | c.1185C>T (p.Ser395=) c.-55+1619C>T (n.-55+1619C>T) | dbSNP COSMIC COSMIC |
| 4 | g.125317597G>A | CA3071936 | FAT4 | c.1186G>A (p.Val396Met) c.-55+1620G>A (n.-55+1620G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317597G>C | CA3071937 | FAT4 | c.1186G>C (p.Val396Leu) c.-55+1620G>C (n.-55+1620G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317597G= | CA1491600248 | FAT4 | c.1186G= (p.Val396=) c.-55+1620G= (n.-55+1620G=) | |
| 4 | g.125317597G>T | CA104861938 | FAT4 | c.1186G>T (p.Val396Leu) c.-55+1620G>T (n.-55+1620G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317598T>A | CA358117375 | FAT4 | c.1187T>A (p.Val396Glu) c.-55+1621T>A (n.-55+1621T>A) | |
| 4 | g.125317598T>C | CA358117376 | FAT4 | c.1187T>C (p.Val396Ala) c.-55+1621T>C (n.-55+1621T>C) | |
| 4 | g.125317598T>G | CA358117377 | FAT4 | c.1187T>G (p.Val396Gly) c.-55+1621T>G (n.-55+1621T>G) | |
| 4 | g.125317599G>A | CA441366715 | FAT4 | c.1188G>A (p.Val396=) c.-55+1622G>A (n.-55+1622G>A) | dbSNP |
| 4 | g.125317599G>C | CA441366716 | FAT4 | c.1188G>C (p.Val396=) c.-55+1622G>C (n.-55+1622G>C) | |
| 4 | g.125317599G= | CA1491600253 | FAT4 | c.1188G= (p.Val396=) c.-55+1622G= (n.-55+1622G=) | |
| 4 | g.125317599G>T | CA441366717 | FAT4 | c.1188G>T (p.Val396=) c.-55+1622G>T (n.-55+1622G>T) | |
| 4 | g.125317600C>A | CA358117378 | FAT4 | c.1189C>A (p.Gln397Lys) c.-55+1623C>A (n.-55+1623C>A) | |
| 4 | g.125317600C>G | CA358117379 | FAT4 | c.1189C>G (p.Gln397Glu) c.-55+1623C>G (n.-55+1623C>G) | |
| 4 | g.125317600C>T | CA358117380 | FAT4 | c.1189C>T (p.Gln397Ter) c.-55+1623C>T (n.-55+1623C>T) | |
| 4 | g.125317601A= | CA1491600257 | FAT4 | c.1190A= (p.Gln397=) c.-55+1624A= (n.-55+1624A=) | |
| 4 | g.125317601A>C | CA358117382 | FAT4 | c.1190A>C (p.Gln397Pro) c.-55+1624A>C (n.-55+1624A>C) | |
| 4 | g.125317601A>G | CA3071938 | FAT4 | c.1190A>G (p.Gln397Arg) c.-55+1624A>G (n.-55+1624A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317601A>T | CA358117381 | FAT4 | c.1190A>T (p.Gln397Leu) c.-55+1624A>T (n.-55+1624A>T) | |
| 4 | g.125317602A>C | CA358117383 | FAT4 | c.1191A>C (p.Gln397His) c.-55+1625A>C (n.-55+1625A>C) | |
| 4 | g.125317602A>G | CA441366723 | FAT4 | c.1191A>G (p.Gln397=) c.-55+1625A>G (n.-55+1625A>G) | |
| 4 | g.125317602A>T | CA358117384 | FAT4 | c.1191A>T (p.Gln397His) c.-55+1625A>T (n.-55+1625A>T) | |
| 4 | g.125317603A>C | CA358117385 | FAT4 | c.1192A>C (p.Ile398Leu) c.-55+1626A>C (n.-55+1626A>C) | |
| 4 | g.125317603A>G | CA358117387 | FAT4 | c.1192A>G (p.Ile398Val) c.-55+1626A>G (n.-55+1626A>G) | |
| 4 | g.125317603A>T | CA358117386 | FAT4 | c.1192A>T (p.Ile398Phe) c.-55+1626A>T (n.-55+1626A>T) | |
| 4 | g.125317604T>A | CA358117388 | FAT4 | c.1193T>A (p.Ile398Asn) c.-55+1627T>A (n.-55+1627T>A) | |
| 4 | g.125317604T>C | CA358117389 | FAT4 | c.1193T>C (p.Ile398Thr) c.-55+1627T>C (n.-55+1627T>C) | |
| 4 | g.125317604T>G | CA358117390 | FAT4 | c.1193T>G (p.Ile398Ser) c.-55+1627T>G (n.-55+1627T>G) | |
| 4 | g.125317605T>A | CA441366732 | FAT4 | c.1194T>A (p.Ile398=) c.-55+1628T>A (n.-55+1628T>A) | |
| 4 | g.125317605T>C | CA441366734 | FAT4 | c.1194T>C (p.Ile398=) c.-55+1628T>C (n.-55+1628T>C) | |
| 4 | g.125317605T>G | CA358117391 | FAT4 | c.1194T>G (p.Ile398Met) c.-55+1628T>G (n.-55+1628T>G) | |
| 4 | g.125317605_125317606delinsTC | CA1491600264 | FAT4 | c.1194_1195delinsTC (p.Ile398=) c.-55+1628_-55+1629delinsTC (n.-55+1628_-55+1629delinsTC) | |
| 4 | g.125317606del | CA170763 | FAT4 | c.1195del (p.Leu399SerfsTer19) c.-55+1629del (n.-55+1629del) | ClinVar dbSNP |
| 4 | g.125317606C>A | CA358117392 | FAT4 | c.1195C>A (p.Leu399Ile) c.-55+1629C>A (n.-55+1629C>A) | ClinVar |
| 4 | g.125317606C>G | CA358117393 | FAT4 | c.1195C>G (p.Leu399Val) c.-55+1629C>G (n.-55+1629C>G) | |
| 4 | g.125317606C>T | CA358117394 | FAT4 | c.1195C>T (p.Leu399Phe) c.-55+1629C>T (n.-55+1629C>T) | |
| 4 | g.125317607T>A | CA358117395 | FAT4 | c.1196T>A (p.Leu399His) c.-55+1630T>A (n.-55+1630T>A) | |
| 4 | g.125317607T>C | CA358117396 | FAT4 | c.1196T>C (p.Leu399Pro) c.-55+1630T>C (n.-55+1630T>C) | gnomAD v4 |
| 4 | g.125317607T>G | CA358117397 | FAT4 | c.1196T>G (p.Leu399Arg) c.-55+1630T>G (n.-55+1630T>G) | |
| 4 | g.125317608C>A | CA441366741 | FAT4 | c.1197C>A (p.Leu399=) c.-55+1631C>A (n.-55+1631C>A) | gnomAD v4 |
| 4 | g.125317608C= | CA1491600284 | FAT4 | c.1197C= (p.Leu399=) c.-55+1631C= (n.-55+1631C=) | |
| 4 | g.125317608C>G | CA441366739 | FAT4 | c.1197C>G (p.Leu399=) c.-55+1631C>G (n.-55+1631C>G) | |
| 4 | g.125317608C>T | CA441366740 | FAT4 | c.1197C>T (p.Leu399=) c.-55+1631C>T (n.-55+1631C>T) | dbSNP gnomAD v2 |
| 4 | g.125317609G>A | CA358117399 | FAT4 | c.1198G>A (p.Gly400Arg) c.-55+1632G>A (n.-55+1632G>A) | |
| 4 | g.125317609G>C | CA358117398 | FAT4 | c.1198G>C (p.Gly400Arg) c.-55+1632G>C (n.-55+1632G>C) | gnomAD v4 |
| 4 | g.125317609G= | CA1491600288 | FAT4 | c.1198G= (p.Gly400=) c.-55+1632G= (n.-55+1632G=) | |
| 4 | g.125317609G>T | CA3071939 | FAT4 | c.1198G>T (p.Gly400Trp) c.-55+1632G>T (n.-55+1632G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317610G>A | CA358117400 | FAT4 | c.1199G>A (p.Gly400Glu) c.-55+1633G>A (n.-55+1633G>A) | |
| 4 | g.125317610G>C | CA358117401 | FAT4 | c.1199G>C (p.Gly400Ala) c.-55+1633G>C (n.-55+1633G>C) | |
| 4 | g.125317610G>T | CA358117402 | FAT4 | c.1199G>T (p.Gly400Val) c.-55+1633G>T (n.-55+1633G>T) | |
| 4 | g.125317611G>A | CA441366744 | FAT4 | c.1200G>A (p.Gly400=) c.-55+1634G>A (n.-55+1634G>A) | |
| 4 | g.125317611G>C | CA441366745 | FAT4 | c.1200G>C (p.Gly400=) c.-55+1634G>C (n.-55+1634G>C) | |
| 4 | g.125317611G>T | CA441366746 | FAT4 | c.1200G>T (p.Gly400=) c.-55+1634G>T (n.-55+1634G>T) | |
| 4 | g.125317612G>A | CA358117403 | FAT4 | c.1201G>A (p.Gly401Ser) c.-55+1635G>A (n.-55+1635G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.125317612G>C | CA358117404 | FAT4 | c.1201G>C (p.Gly401Arg) c.-55+1635G>C (n.-55+1635G>C) | |
| 4 | g.125317612G>T | CA358117405 | FAT4 | c.1201G>T (p.Gly401Cys) c.-55+1635G>T (n.-55+1635G>T) | |
| 4 | g.125317613G>A | CA358117406 | FAT4 | c.1202G>A (p.Gly401Asp) c.-55+1636G>A (n.-55+1636G>A) | gnomAD v4 |
| 4 | g.125317613G>C | CA358117407 | FAT4 | c.1202G>C (p.Gly401Ala) c.-55+1636G>C (n.-55+1636G>C) | |
| 4 | g.125317613G= | CA1491600295 | FAT4 | c.1202G= (p.Gly401=) c.-55+1636G= (n.-55+1636G=) | |
| 4 | g.125317613G>T | CA3071940 | FAT4 | c.1202G>T (p.Gly401Val) c.-55+1636G>T (n.-55+1636G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317614C>A | CA441366750 | FAT4 | c.1203C>A (p.Gly401=) c.-55+1637C>A (n.-55+1637C>A) | |
| 4 | g.125317614C>G | CA441366751 | FAT4 | c.1203C>G (p.Gly401=) c.-55+1637C>G (n.-55+1637C>G) | |
| 4 | g.125317614C>T | CA441366752 | FAT4 | c.1203C>T (p.Gly401=) c.-55+1637C>T (n.-55+1637C>T) | |
| 4 | g.125317615A>C | CA358117408 | FAT4 | c.1204A>C (p.Asn402His) c.-55+1638A>C (n.-55+1638A>C) | |
| 4 | g.125317615A>G | CA358117409 | FAT4 | c.1204A>G (p.Asn402Asp) c.-55+1638A>G (n.-55+1638A>G) | |
| 4 | g.125317615A>T | CA358117410 | FAT4 | c.1204A>T (p.Asn402Tyr) c.-55+1638A>T (n.-55+1638A>T) | |
| 4 | g.125317616A= | CA1491600300 | FAT4 | c.1205A= (p.Asn402=) c.-55+1639A= (n.-55+1639A=) | |
| 4 | g.125317616A>C | CA358117413 | FAT4 | c.1205A>C (p.Asn402Thr) c.-55+1639A>C (n.-55+1639A>C) | |
| 4 | g.125317616A>G | CA358117412 | FAT4 | c.1205A>G (p.Asn402Ser) c.-55+1639A>G (n.-55+1639A>G) | dbSNP gnomAD v4 |
| 4 | g.125317616A>T | CA358117411 | FAT4 | c.1205A>T (p.Asn402Ile) c.-55+1639A>T (n.-55+1639A>T) | |
| 4 | g.125317617T>A | CA358117414 | FAT4 | c.1206T>A (p.Asn402Lys) c.-55+1640T>A (n.-55+1640T>A) | |
| 4 | g.125317617T>C | CA441366757 | FAT4 | c.1206T>C (p.Asn402=) c.-55+1640T>C (n.-55+1640T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317617T>G | CA358117415 | FAT4 | c.1206T>G (p.Asn402Lys) c.-55+1640T>G (n.-55+1640T>G) | gnomAD v4 |
| 4 | g.125317617T= | CA1491600303 | FAT4 | c.1206T= (p.Asn402=) c.-55+1640T= (n.-55+1640T=) | |
| 4 | g.125317618G>A | CA358117416 | FAT4 | c.1207G>A (p.Glu403Lys) c.-55+1641G>A (n.-55+1641G>A) | |
| 4 | g.125317618G>C | CA358117417 | FAT4 | c.1207G>C (p.Glu403Gln) c.-55+1641G>C (n.-55+1641G>C) | |
| 4 | g.125317618G>T | CA358117418 | FAT4 | c.1207G>T (p.Glu403Ter) c.-55+1641G>T (n.-55+1641G>T) | |
| 4 | g.125317619A>C | CA358117419 | FAT4 | c.1208A>C (p.Glu403Ala) c.-55+1642A>C (n.-55+1642A>C) | |
| 4 | g.125317619A>G | CA358117420 | FAT4 | c.1208A>G (p.Glu403Gly) c.-55+1642A>G (n.-55+1642A>G) | |
| 4 | g.125317619A>T | CA358117421 | FAT4 | c.1208A>T (p.Glu403Val) c.-55+1642A>T (n.-55+1642A>T) | |
| 4 | g.125317620G>A | CA441366763 | FAT4 | c.1209G>A (p.Glu403=) c.-55+1643G>A (n.-55+1643G>A) | |
| 4 | g.125317620G>C | CA358117422 | FAT4 | c.1209G>C (p.Glu403Asp) c.-55+1643G>C (n.-55+1643G>C) | |
| 4 | g.125317620G>T | CA358117423 | FAT4 | c.1209G>T (p.Glu403Asp) c.-55+1643G>T (n.-55+1643G>T) | |
| 4 | g.125317621C>A | CA358117424 | FAT4 | c.1210C>A (p.Gln404Lys) c.-55+1644C>A (n.-55+1644C>A) | |
| 4 | g.125317621C>G | CA358117425 | FAT4 | c.1210C>G (p.Gln404Glu) c.-55+1644C>G (n.-55+1644C>G) | |
| 4 | g.125317621C>T | CA358117426 | FAT4 | c.1210C>T (p.Gln404Ter) c.-55+1644C>T (n.-55+1644C>T) | |
| 4 | g.125317622A= | CA1491600307 | FAT4 | c.1211A= (p.Gln404=) c.-55+1645A= (n.-55+1645A=) | |
| 4 | g.125317622A>C | CA3071941 | FAT4 | c.1211A>C (p.Gln404Pro) c.-55+1645A>C (n.-55+1645A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317622A>G | CA358117427 | FAT4 | c.1211A>G (p.Gln404Arg) c.-55+1645A>G (n.-55+1645A>G) | |
| 4 | g.125317622A>T | CA358117428 | FAT4 | c.1211A>T (p.Gln404Leu) c.-55+1645A>T (n.-55+1645A>T) | |
| 4 | g.125317623G>A | CA441366770 | FAT4 | c.1212G>A (p.Gln404=) c.-55+1646G>A (n.-55+1646G>A) | |
| 4 | g.125317623G>C | CA358117429 | FAT4 | c.1212G>C (p.Gln404His) c.-55+1646G>C (n.-55+1646G>C) | |
| 4 | g.125317623G= | CA1491600312 | FAT4 | c.1212G= (p.Gln404=) c.-55+1646G= (n.-55+1646G=) | |
| 4 | g.125317623G>T | CA3071942 | FAT4 | c.1212G>T (p.Gln404His) c.-55+1646G>T (n.-55+1646G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317624C>A | CA358117430 | FAT4 | c.1213C>A (p.Arg405Ser) c.-55+1647C>A (n.-55+1647C>A) | |
| 4 | g.125317624C>G | CA358117431 | FAT4 | c.1213C>G (p.Arg405Gly) c.-55+1647C>G (n.-55+1647C>G) | |
| 4 | g.125317624C>T | CA358117432 | FAT4 | c.1213C>T (p.Arg405Cys) c.-55+1647C>T (n.-55+1647C>T) | |
| 4 | g.125317625G>A | CA358117433 | FAT4 | c.1214G>A (p.Arg405His) c.-55+1648G>A (n.-55+1648G>A) | dbSNP COSMIC COSMIC |
| 4 | g.125317625G>C | CA358117434 | FAT4 | c.1214G>C (p.Arg405Pro) c.-55+1648G>C (n.-55+1648G>C) | |
| 4 | g.125317625G= | CA1491600317 | FAT4 | c.1214G= (p.Arg405=) c.-55+1648G= (n.-55+1648G=) | |
| 4 | g.125317625G>T | CA3071943 | FAT4 | c.1214G>T (p.Arg405Leu) c.-55+1648G>T (n.-55+1648G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317626C>A | CA441366778 | FAT4 | c.1215C>A (p.Arg405=) c.-55+1649C>A (n.-55+1649C>A) | |
| 4 | g.125317626C>G | CA441366779 | FAT4 | c.1215C>G (p.Arg405=) c.-55+1649C>G (n.-55+1649C>G) | |
| 4 | g.125317626C>T | CA441366780 | FAT4 | c.1215C>T (p.Arg405=) c.-55+1649C>T (n.-55+1649C>T) | |
| 4 | g.125317627C>A | CA358117435 | FAT4 | c.1216C>A (p.His406Asn) c.-55+1650C>A (n.-55+1650C>A) | |
| 4 | g.125317627C>G | CA358117436 | FAT4 | c.1216C>G (p.His406Asp) c.-55+1650C>G (n.-55+1650C>G) | |
| 4 | g.125317627C>T | CA358117437 | FAT4 | c.1216C>T (p.His406Tyr) c.-55+1650C>T (n.-55+1650C>T) | |
| 4 | g.125317628A= | CA1491600320 | FAT4 | c.1217A= (p.His406=) c.-55+1651A= (n.-55+1651A=) | |
| 4 | g.125317628A>C | CA358117440 | FAT4 | c.1217A>C (p.His406Pro) c.-55+1651A>C (n.-55+1651A>C) | |
| 4 | g.125317628A>G | CA358117439 | FAT4 | c.1217A>G (p.His406Arg) c.-55+1651A>G (n.-55+1651A>G) | dbSNP gnomAD v4 |
| 4 | g.125317628A>T | CA358117438 | FAT4 | c.1217A>T (p.His406Leu) c.-55+1651A>T (n.-55+1651A>T) | |
| 4 | g.125317629C>A | CA358117441 | FAT4 | c.1218C>A (p.His406Gln) c.-55+1652C>A (n.-55+1652C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317629C= | CA1491600326 | FAT4 | c.1218C= (p.His406=) c.-55+1652C= (n.-55+1652C=) | |
| 4 | g.125317629C>G | CA358117442 | FAT4 | c.1218C>G (p.His406Gln) c.-55+1652C>G (n.-55+1652C>G) | COSMIC COSMIC |
| 4 | g.125317629C>T | CA441366789 | FAT4 | c.1218C>T (p.His406=) c.-55+1652C>T (n.-55+1652C>T) | ClinVar dbSNP gnomAD v4 |
| 4 | g.125317630T>A | CA358117443 | FAT4 | c.1219T>A (p.Phe407Ile) c.-55+1653T>A (n.-55+1653T>A) | |
| 4 | g.125317630T>C | CA358117444 | FAT4 | c.1219T>C (p.Phe407Leu) c.-55+1653T>C (n.-55+1653T>C) | ClinVar gnomAD v4 |
| 4 | g.125317630T>G | CA358117445 | FAT4 | c.1219T>G (p.Phe407Val) c.-55+1653T>G (n.-55+1653T>G) | |
| 4 | g.125317631T>A | CA358117446 | FAT4 | c.1220T>A (p.Phe407Tyr) c.-55+1654T>A (n.-55+1654T>A) | |
| 4 | g.125317631T>C | CA358117447 | FAT4 | c.1220T>C (p.Phe407Ser) c.-55+1654T>C (n.-55+1654T>C) | |
| 4 | g.125317631T>G | CA358117448 | FAT4 | c.1220T>G (p.Phe407Cys) c.-55+1654T>G (n.-55+1654T>G) | COSMIC COSMIC |
| 4 | g.125317632T>A | CA358117449 | FAT4 | c.1221T>A (p.Phe407Leu) c.-55+1655T>A (n.-55+1655T>A) | |
| 4 | g.125317632T>C | CA3071944 | FAT4 | c.1221T>C (p.Phe407=) c.-55+1655T>C (n.-55+1655T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.125317632T>G | CA358117450 | FAT4 | c.1221T>G (p.Phe407Leu) c.-55+1655T>G (n.-55+1655T>G) | |
| 4 | g.125317632T= | CA1491600327 | FAT4 | c.1221T= (p.Phe407=) c.-55+1655T= (n.-55+1655T=) | |
| 4 | g.125317633G>A | CA3071945 | FAT4 | c.1222G>A (p.Glu408Lys) c.-55+1656G>A (n.-55+1656G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.125317633G>C | CA358117451 | FAT4 | c.1222G>C (p.Glu408Gln) c.-55+1656G>C (n.-55+1656G>C) | |
| 4 | g.125317633G= | CA1491600332 | FAT4 | c.1222G= (p.Glu408=) c.-55+1656G= (n.-55+1656G=) | |
| 4 | g.125317633G>T | CA358117452 | FAT4 | c.1222G>T (p.Glu408Ter) c.-55+1656G>T (n.-55+1656G>T) | |
| 4 | g.125317634A= | CA1491600339 | FAT4 | c.1223A= (p.Glu408=) c.-55+1657A= (n.-55+1657A=) | |
| 4 | g.125317634A>C | CA358117454 | FAT4 | c.1223A>C (p.Glu408Ala) c.-55+1657A>C (n.-55+1657A>C) | |
| 4 | g.125317634A>G | CA104862029 | FAT4 | c.1223A>G (p.Glu408Gly) c.-55+1657A>G (n.-55+1657A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.125317634A>T | CA358117453 | FAT4 | c.1223A>T (p.Glu408Val) c.-55+1657A>T (n.-55+1657A>T) | |
| 4 | g.125317635A>C | CA358117455 | FAT4 | c.1224A>C (p.Glu408Asp) c.-55+1658A>C (n.-55+1658A>C) | |
| 4 | g.125317635A>G | CA441366817 | FAT4 | c.1224A>G (p.Glu408=) c.-55+1658A>G (n.-55+1658A>G) | |
| 4 | g.125317635A>T | CA358117456 | FAT4 | c.1224A>T (p.Glu408Asp) c.-55+1658A>T (n.-55+1658A>T) | |
| 4 | g.125317636G>A | CA358117457 | FAT4 | c.1225G>A (p.Val409Met) c.-55+1659G>A (n.-55+1659G>A) | gnomAD v4 |
| 4 | g.125317636G>C | CA358117458 | FAT4 | c.1225G>C (p.Val409Leu) c.-55+1659G>C (n.-55+1659G>C) | |
| 4 | g.125317636G>T | CA358117459 | FAT4 | c.1225G>T (p.Val409Leu) c.-55+1659G>T (n.-55+1659G>T) | |
| 4 | g.125317637T>A | CA358117460 | FAT4 | c.1226T>A (p.Val409Glu) c.-55+1660T>A (n.-55+1660T>A) | |
| 4 | g.125317637T>C | CA358117461 | FAT4 | c.1226T>C (p.Val409Ala) c.-55+1660T>C (n.-55+1660T>C) | |
| 4 | g.125317637T>G | CA358117462 | FAT4 | c.1226T>G (p.Val409Gly) c.-55+1660T>G (n.-55+1660T>G) | |
| 4 | g.125317638G>A | CA441366830 | FAT4 | c.1227G>A (p.Val409=) c.-55+1661G>A (n.-55+1661G>A) | |
| 4 | g.125317638G>C | CA441366827 | FAT4 | c.1227G>C (p.Val409=) c.-55+1661G>C (n.-55+1661G>C) | |
| 4 | g.125317638G= | CA1491600343 | FAT4 | c.1227G= (p.Val409=) c.-55+1661G= (n.-55+1661G=) | |
| 4 | g.125317638G>T | CA441366825 | FAT4 | c.1227G>T (p.Val409=) c.-55+1661G>T (n.-55+1661G>T) | ClinVar dbSNP |
| 4 | g.125317639C>A | CA358117463 | FAT4 | c.1228C>A (p.Gln410Lys) c.-55+1662C>A (n.-55+1662C>A) | |
| 4 | g.125317639C>G | CA358117464 | FAT4 | c.1228C>G (p.Gln410Glu) c.-55+1662C>G (n.-55+1662C>G) | |
| 4 | g.125317639C>T | CA358117465 | FAT4 | c.1228C>T (p.Gln410Ter) c.-55+1662C>T (n.-55+1662C>T) | |
| 4 | g.125317640A>C | CA358117467 | FAT4 | c.1229A>C (p.Gln410Pro) c.-55+1663A>C (n.-55+1663A>C) | |
| 4 | g.125317640A>G | CA358117468 | FAT4 | c.1229A>G (p.Gln410Arg) c.-55+1663A>G (n.-55+1663A>G) | |
| 4 | g.125317640A>T | CA358117466 | FAT4 | c.1229A>T (p.Gln410Leu) c.-55+1663A>T (n.-55+1663A>T) | |
| 4 | g.125317641A= | CA1491600349 | FAT4 | c.1230A= (p.Gln410=) c.-55+1664A= (n.-55+1664A=) | |
| 4 | g.125317641A>C | CA358117469 | FAT4 | c.1230A>C (p.Gln410His) c.-55+1664A>C (n.-55+1664A>C) | |
| 4 | g.125317641A>G | CA441366836 | FAT4 | c.1230A>G (p.Gln410=) c.-55+1664A>G (n.-55+1664A>G) | gnomAD v3 gnomAD v4 |
| 4 | g.125317641A>T | CA358117470 | FAT4 | c.1230A>T (p.Gln410His) c.-55+1664A>T (n.-55+1664A>T) | dbSNP gnomAD v2 |
| 4 | g.125317642A>C | CA358117471 | FAT4 | c.1231A>C (p.Ser411Arg) c.-55+1665A>C (n.-55+1665A>C) | |
| 4 | g.125317642A>G | CA358117472 | FAT4 | c.1231A>G (p.Ser411Gly) c.-55+1665A>G (n.-55+1665A>G) | gnomAD v4 |
| 4 | g.125317642A>T | CA358117473 | FAT4 | c.1231A>T (p.Ser411Cys) c.-55+1665A>T (n.-55+1665A>T) | |
| 4 | g.125317643G>A | CA358117474 | FAT4 | c.1232G>A (p.Ser411Asn) c.-55+1666G>A (n.-55+1666G>A) | gnomAD v4 |
| 4 | g.125317643G>C | CA358117475 | FAT4 | c.1232G>C (p.Ser411Thr) c.-55+1666G>C (n.-55+1666G>C) | |
| 4 | g.125317643G>T | CA358117476 | FAT4 | c.1232G>T (p.Ser411Ile) c.-55+1666G>T (n.-55+1666G>T) | |
| 4 | g.125317644C>A | CA358117477 | FAT4 | c.1233C>A (p.Ser411Arg) c.-55+1667C>A (n.-55+1667C>A) | |
| 4 | g.125317644C= | CA1491600353 | FAT4 | c.1233C= (p.Ser411=) c.-55+1667C= (n.-55+1667C=) | |
| 4 | g.125317644C>G | CA358117478 | FAT4 | c.1233C>G (p.Ser411Arg) c.-55+1667C>G (n.-55+1667C>G) | |
| 4 | g.125317644C>T | CA441366851 | FAT4 | c.1233C>T (p.Ser411=) c.-55+1667C>T (n.-55+1667C>T) | dbSNP |
| 4 | g.125317645A>C | CA358117479 | FAT4 | c.1234A>C (p.Ser412Arg) c.-55+1668A>C (n.-55+1668A>C) | |
| 4 | g.125317645A>G | CA358117480 | FAT4 | c.1234A>G (p.Ser412Gly) c.-55+1668A>G (n.-55+1668A>G) | |
| 4 | g.125317645A>T | CA358117481 | FAT4 | c.1234A>T (p.Ser412Cys) c.-55+1668A>T (n.-55+1668A>T) | |
| 4 | g.125317646G>A | CA358117484 | FAT4 | c.1235G>A (p.Ser412Asn) c.-55+1669G>A (n.-55+1669G>A) | gnomAD v4 |
| 4 | g.125317646G>C | CA358117483 | FAT4 | c.1235G>C (p.Ser412Thr) c.-55+1669G>C (n.-55+1669G>C) | |
| 4 | g.125317646G>T | CA358117482 | FAT4 | c.1235G>T (p.Ser412Ile) c.-55+1669G>T (n.-55+1669G>T) | |
| 4 | g.125317647C>A | CA358117485 | FAT4 | c.1236C>A (p.Ser412Arg) c.-55+1670C>A (n.-55+1670C>A) | |
| 4 | g.125317647C>G | CA358117486 | FAT4 | c.1236C>G (p.Ser412Arg) c.-55+1670C>G (n.-55+1670C>G) | |
| 4 | g.125317647C>T | CA441366861 | FAT4 | c.1236C>T (p.Ser412=) c.-55+1670C>T (n.-55+1670C>T) | |
| 4 | g.125317648A= | CA1491600358 | FAT4 | c.1237A= (p.Lys413=) c.-55+1671A= (n.-55+1671A=) | |
| 4 | g.125317648A>C | CA358117487 | FAT4 | c.1237A>C (p.Lys413Gln) c.-55+1671A>C (n.-55+1671A>C) | |
| 4 | g.125317648A>G | CA358117488 | FAT4 | c.1237A>G (p.Lys413Glu) c.-55+1671A>G (n.-55+1671A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.125317648A>T | CA358117489 | FAT4 | c.1237A>T (p.Lys413Ter) c.-55+1671A>T (n.-55+1671A>T) |