Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |