| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191411_31191414del | CA2573105932 | FUS | c.1554_1557del (p.Gln519IlefsTer9) c.1551_1554del (p.Gln518IlefsTer9) n.631_634del n.4729_4732del c.*727_*730del (n.*727_*730del) c.1557_1560del (p.Gln520IlefsTer9) n.445_448del c.1542_1545del (p.Gln515IlefsTer9) n.1624_1627del c.939_942del (p.Gln314IlefsTer9) c.1548_1551del (p.Gln517IlefsTer9) c.1545_1548del (p.Gln516IlefsTer9) | ClinVar dbSNP |
| 16 | g.31191410G>A | CA257439 | FUS | c.1553G>A (p.Arg518Lys) c.1550G>A (p.Arg517Lys) n.630G>A n.4728G>A c.*726G>A (n.*726G>A) c.1556G>A (p.Arg519Lys) n.444G>A c.1541G>A (p.Arg514Lys) n.1623G>A c.938G>A (p.Arg313Lys) c.1547G>A (p.Arg516Lys) c.1544G>A (p.Arg515Lys) | ClinVar dbSNP |
| 16 | g.31191410G>C | CA395677367 | FUS | c.1553G>C (p.Arg518Thr) c.1550G>C (p.Arg517Thr) n.630G>C n.4728G>C c.*726G>C (n.*726G>C) c.1556G>C (p.Arg519Thr) n.444G>C c.1541G>C (p.Arg514Thr) n.1623G>C c.938G>C (p.Arg313Thr) c.1547G>C (p.Arg516Thr) c.1544G>C (p.Arg515Thr) | |
| 16 | g.31191410G= | CA2216948374 | FUS | c.1553G= (p.Arg518=) c.1550G= (p.Arg517=) n.630G= n.4728G= c.*726G= (n.*726G=) c.1556G= (p.Arg519=) n.444G= c.1541G= (p.Arg514=) n.1623G= c.938G= (p.Arg313=) c.1547G= (p.Arg516=) c.1544G= (p.Arg515=) | |
| 16 | g.31191410G>T | CA395677370 | FUS | c.1553G>T (p.Arg518Ile) c.1550G>T (p.Arg517Ile) n.630G>T n.4728G>T c.*726G>T (n.*726G>T) c.1556G>T (p.Arg519Ile) n.444G>T c.1541G>T (p.Arg514Ile) n.1623G>T c.938G>T (p.Arg313Ile) c.1547G>T (p.Arg516Ile) c.1544G>T (p.Arg515Ile) | |
| 16 | g.31191411A>C | CA395677378 | FUS | c.1554A>C (p.Arg518Ser) c.1551A>C (p.Arg517Ser) n.631A>C n.4729A>C c.*727A>C (n.*727A>C) c.1557A>C (p.Arg519Ser) n.445A>C c.1542A>C (p.Arg514Ser) n.1624A>C c.939A>C (p.Arg313Ser) c.1548A>C (p.Arg516Ser) c.1545A>C (p.Arg515Ser) | |
| 16 | g.31191411A>G | CA494715346 | FUS | c.1554A>G (p.Arg518=) c.1551A>G (p.Arg517=) n.631A>G n.4729A>G c.*727A>G (n.*727A>G) c.1557A>G (p.Arg519=) n.445A>G c.1542A>G (p.Arg514=) n.1624A>G c.939A>G (p.Arg313=) c.1548A>G (p.Arg516=) c.1545A>G (p.Arg515=) | |
| 16 | g.31191411A>T | CA395677381 | FUS | c.1554A>T (p.Arg518Ser) c.1551A>T (p.Arg517Ser) n.631A>T n.4729A>T c.*727A>T (n.*727A>T) c.1557A>T (p.Arg519Ser) n.445A>T c.1542A>T (p.Arg514Ser) n.1624A>T c.939A>T (p.Arg313Ser) c.1548A>T (p.Arg516Ser) c.1545A>T (p.Arg515Ser) | |
| 16 | g.31191412C>A | CA395677385 | FUS | c.1555C>A (p.Gln519Lys) c.1552C>A (p.Gln518Lys) n.632C>A n.4730C>A c.*728C>A (n.*728C>A) c.1558C>A (p.Gln520Lys) n.446C>A c.1543C>A (p.Gln515Lys) n.1625C>A c.940C>A (p.Gln314Lys) c.1549C>A (p.Gln517Lys) c.1546C>A (p.Gln516Lys) | gnomAD v3 gnomAD v4 |
| 16 | g.31191412C= | CA2216948375 | FUS | c.1555C= (p.Gln519=) c.1552C= (p.Gln518=) n.632C= n.4730C= c.*728C= (n.*728C=) c.1558C= (p.Gln520=) n.446C= c.1543C= (p.Gln515=) n.1625C= c.940C= (p.Gln314=) c.1549C= (p.Gln517=) c.1546C= (p.Gln516=) | |
| 16 | g.31191412C>G | CA395677387 | FUS | c.1555C>G (p.Gln519Glu) c.1552C>G (p.Gln518Glu) n.632C>G n.4730C>G c.*728C>G (n.*728C>G) c.1558C>G (p.Gln520Glu) n.446C>G c.1543C>G (p.Gln515Glu) n.1625C>G c.940C>G (p.Gln314Glu) c.1549C>G (p.Gln517Glu) c.1546C>G (p.Gln516Glu) | ClinVar dbSNP |
| 16 | g.31191412C>T | CA395677397 | FUS | c.1555C>T (p.Gln519Ter) c.1552C>T (p.Gln518Ter) n.632C>T n.4730C>T c.*728C>T (n.*728C>T) c.1558C>T (p.Gln520Ter) n.446C>T c.1543C>T (p.Gln515Ter) n.1625C>T c.940C>T (p.Gln314Ter) c.1549C>T (p.Gln517Ter) c.1546C>T (p.Gln516Ter) | ClinVar dbSNP |
| 16 | g.31191413A>C | CA395677398 | FUS | c.1556A>C (p.Gln519Pro) c.1553A>C (p.Gln518Pro) n.633A>C n.4731A>C c.*729A>C (n.*729A>C) c.1559A>C (p.Gln520Pro) n.447A>C c.1544A>C (p.Gln515Pro) n.1626A>C c.941A>C (p.Gln314Pro) c.1550A>C (p.Gln517Pro) c.1547A>C (p.Gln516Pro) | |
| 16 | g.31191413A>G | CA395677399 | FUS | c.1556A>G (p.Gln519Arg) c.1553A>G (p.Gln518Arg) n.633A>G n.4731A>G c.*729A>G (n.*729A>G) c.1559A>G (p.Gln520Arg) n.447A>G c.1544A>G (p.Gln515Arg) n.1626A>G c.941A>G (p.Gln314Arg) c.1550A>G (p.Gln517Arg) c.1547A>G (p.Gln516Arg) | ClinVar |
| 16 | g.31191413A>T | CA395677401 | FUS | c.1556A>T (p.Gln519Leu) c.1553A>T (p.Gln518Leu) n.633A>T n.4731A>T c.*729A>T (n.*729A>T) c.1559A>T (p.Gln520Leu) n.447A>T c.1544A>T (p.Gln515Leu) n.1626A>T c.941A>T (p.Gln314Leu) c.1550A>T (p.Gln517Leu) c.1547A>T (p.Gln516Leu) | |
| 16 | g.31191414G>A | CA494715350 | FUS | c.1557G>A (p.Gln519=) c.1554G>A (p.Gln518=) n.634G>A n.4732G>A c.*730G>A (n.*730G>A) c.1560G>A (p.Gln520=) n.448G>A c.1545G>A (p.Gln515=) n.1627G>A c.942G>A (p.Gln314=) c.1551G>A (p.Gln517=) c.1548G>A (p.Gln516=) | |
| 16 | g.31191414G>C | CA395677406 | FUS | c.1557G>C (p.Gln519His) c.1554G>C (p.Gln518His) n.634G>C n.4732G>C c.*730G>C (n.*730G>C) c.1560G>C (p.Gln520His) n.448G>C c.1545G>C (p.Gln515His) n.1627G>C c.942G>C (p.Gln314His) c.1551G>C (p.Gln517His) c.1548G>C (p.Gln516His) | |
| 16 | g.31191414G>T | CA395677404 | FUS | c.1557G>T (p.Gln519His) c.1554G>T (p.Gln518His) n.634G>T n.4732G>T c.*730G>T (n.*730G>T) c.1560G>T (p.Gln520His) n.448G>T c.1545G>T (p.Gln515His) n.1627G>T c.942G>T (p.Gln314His) c.1551G>T (p.Gln517His) c.1548G>T (p.Gln516His) | |
| 16 | g.31191415G>A | CA395677408 | FUS | c.1558G>A (p.Asp520Asn) c.1555G>A (p.Asp519Asn) n.635G>A n.4733G>A c.*731G>A (n.*731G>A) c.1561G>A (p.Asp521Asn) n.449G>A c.1546G>A (p.Asp516Asn) n.1628G>A c.943G>A (p.Asp315Asn) c.1552G>A (p.Asp518Asn) c.1549G>A (p.Asp517Asn) | |
| 16 | g.31191415G>C | CA395677415 | FUS | c.1558G>C (p.Asp520His) c.1555G>C (p.Asp519His) n.635G>C n.4733G>C c.*731G>C (n.*731G>C) c.1561G>C (p.Asp521His) n.449G>C c.1546G>C (p.Asp516His) n.1628G>C c.943G>C (p.Asp315His) c.1552G>C (p.Asp518His) c.1549G>C (p.Asp517His) | |
| 16 | g.31191415G>T | CA395677413 | FUS | c.1558G>T (p.Asp520Tyr) c.1555G>T (p.Asp519Tyr) n.635G>T n.4733G>T c.*731G>T (n.*731G>T) c.1561G>T (p.Asp521Tyr) n.449G>T c.1546G>T (p.Asp516Tyr) n.1628G>T c.943G>T (p.Asp315Tyr) c.1552G>T (p.Asp518Tyr) c.1549G>T (p.Asp517Tyr) | |
| 16 | g.31191416A>C | CA395677422 | FUS | c.1559A>C (p.Asp520Ala) c.1556A>C (p.Asp519Ala) n.636A>C n.4734A>C c.*732A>C (n.*732A>C) c.1562A>C (p.Asp521Ala) n.450A>C c.1547A>C (p.Asp516Ala) n.1629A>C c.944A>C (p.Asp315Ala) c.1553A>C (p.Asp518Ala) c.1550A>C (p.Asp517Ala) | |
| 16 | g.31191416A>G | CA395677424 | FUS | c.1559A>G (p.Asp520Gly) c.1556A>G (p.Asp519Gly) n.636A>G n.4734A>G c.*732A>G (n.*732A>G) c.1562A>G (p.Asp521Gly) n.450A>G c.1547A>G (p.Asp516Gly) n.1629A>G c.944A>G (p.Asp315Gly) c.1553A>G (p.Asp518Gly) c.1550A>G (p.Asp517Gly) | |
| 16 | g.31191416A>T | CA395677427 | FUS | c.1559A>T (p.Asp520Val) c.1556A>T (p.Asp519Val) n.636A>T n.4734A>T c.*732A>T (n.*732A>T) c.1562A>T (p.Asp521Val) n.450A>T c.1547A>T (p.Asp516Val) n.1629A>T c.944A>T (p.Asp315Val) c.1553A>T (p.Asp518Val) c.1550A>T (p.Asp517Val) | |
| 16 | g.31191417T>A | CA395677431 | FUS | c.1560T>A (p.Asp520Glu) c.1557T>A (p.Asp519Glu) n.637T>A n.4735T>A c.*733T>A (n.*733T>A) c.1563T>A (p.Asp521Glu) n.451T>A c.1548T>A (p.Asp516Glu) n.1630T>A c.945T>A (p.Asp315Glu) c.1554T>A (p.Asp518Glu) c.1551T>A (p.Asp517Glu) | |
| 16 | g.31191417T>C | CA494715354 | FUS | c.1560T>C (p.Asp520=) c.1557T>C (p.Asp519=) n.637T>C n.4735T>C c.*733T>C (n.*733T>C) c.1563T>C (p.Asp521=) n.451T>C c.1548T>C (p.Asp516=) n.1630T>C c.945T>C (p.Asp315=) c.1554T>C (p.Asp518=) c.1551T>C (p.Asp517=) | gnomAD v4 |
| 16 | g.31191417T>G | CA395677434 | FUS | c.1560T>G (p.Asp520Glu) c.1557T>G (p.Asp519Glu) n.637T>G n.4735T>G c.*733T>G (n.*733T>G) c.1563T>G (p.Asp521Glu) n.451T>G c.1548T>G (p.Asp516Glu) n.1630T>G c.945T>G (p.Asp315Glu) c.1554T>G (p.Asp518Glu) c.1551T>G (p.Asp517Glu) | |
| 16 | g.31191418C>A | CA395677437 | FUS | c.1561C>A (p.Arg521Ser) c.1558C>A (p.Arg520Ser) n.638C>A n.4736C>A c.*734C>A (n.*734C>A) c.1564C>A (p.Arg522Ser) n.452C>A c.1549C>A (p.Arg517Ser) n.1631C>A c.946C>A (p.Arg316Ser) c.1555C>A (p.Arg519Ser) c.1552C>A (p.Arg518Ser) | dbSNP |
| 16 | g.31191418C= | CA2216948376 | FUS | c.1561C= (p.Arg521=) c.1558C= (p.Arg520=) n.638C= n.4736C= c.*734C= (n.*734C=) c.1564C= (p.Arg522=) n.452C= c.1549C= (p.Arg517=) n.1631C= c.946C= (p.Arg316=) c.1555C= (p.Arg519=) c.1552C= (p.Arg518=) | |
| 16 | g.31191418C>G | CA257437 | FUS | c.1561C>G (p.Arg521Gly) c.1558C>G (p.Arg520Gly) n.638C>G n.4736C>G c.*734C>G (n.*734C>G) c.1564C>G (p.Arg522Gly) n.452C>G c.1549C>G (p.Arg517Gly) n.1631C>G c.946C>G (p.Arg316Gly) c.1555C>G (p.Arg519Gly) c.1552C>G (p.Arg518Gly) | ClinVar dbSNP |
| 16 | g.31191418C>T | CA257441 | FUS | c.1561C>T (p.Arg521Cys) c.1558C>T (p.Arg520Cys) n.638C>T n.4736C>T c.*734C>T (n.*734C>T) c.1564C>T (p.Arg522Cys) n.452C>T c.1549C>T (p.Arg517Cys) n.1631C>T c.946C>T (p.Arg316Cys) c.1555C>T (p.Arg519Cys) c.1552C>T (p.Arg518Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.31191419G>A | CA257443 | FUS | c.1562G>A (p.Arg521His) c.1559G>A (p.Arg520His) n.639G>A n.4737G>A c.*735G>A (n.*735G>A) c.1565G>A (p.Arg522His) n.453G>A c.1550G>A (p.Arg517His) n.1632G>A c.947G>A (p.Arg316His) c.1556G>A (p.Arg519His) c.1553G>A (p.Arg518His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31191419G>C | CA395677454 | FUS | c.1562G>C (p.Arg521Pro) c.1559G>C (p.Arg520Pro) n.639G>C n.4737G>C c.*735G>C (n.*735G>C) c.1565G>C (p.Arg522Pro) n.453G>C c.1550G>C (p.Arg517Pro) n.1632G>C c.947G>C (p.Arg316Pro) c.1556G>C (p.Arg519Pro) c.1553G>C (p.Arg518Pro) | |
| 16 | g.31191419G= | CA2216948377 | FUS | c.1562G= (p.Arg521=) c.1559G= (p.Arg520=) n.639G= n.4737G= c.*735G= (n.*735G=) c.1565G= (p.Arg522=) n.453G= c.1550G= (p.Arg517=) n.1632G= c.947G= (p.Arg316=) c.1556G= (p.Arg519=) c.1553G= (p.Arg518=) | |
| 16 | g.31191419G>T | CA395677457 | FUS | c.1562G>T (p.Arg521Leu) c.1559G>T (p.Arg520Leu) n.639G>T n.4737G>T c.*735G>T (n.*735G>T) c.1565G>T (p.Arg522Leu) n.453G>T c.1550G>T (p.Arg517Leu) n.1632G>T c.947G>T (p.Arg316Leu) c.1556G>T (p.Arg519Leu) c.1553G>T (p.Arg518Leu) | ClinVar dbSNP |
| 16 | g.31191420C>A | CA494715363 | FUS | c.1563C>A (p.Arg521=) c.1560C>A (p.Arg520=) n.640C>A n.4738C>A c.*736C>A (n.*736C>A) c.1566C>A (p.Arg522=) n.454C>A c.1551C>A (p.Arg517=) n.1633C>A c.948C>A (p.Arg316=) c.1557C>A (p.Arg519=) c.1554C>A (p.Arg518=) | |
| 16 | g.31191420C>G | CA494715365 | FUS | c.1563C>G (p.Arg521=) c.1560C>G (p.Arg520=) n.640C>G n.4738C>G c.*736C>G (n.*736C>G) c.1566C>G (p.Arg522=) n.454C>G c.1551C>G (p.Arg517=) n.1633C>G c.948C>G (p.Arg316=) c.1557C>G (p.Arg519=) c.1554C>G (p.Arg518=) | |
| 16 | g.31191420C>T | CA494715366 | FUS | c.1563C>T (p.Arg521=) c.1560C>T (p.Arg520=) n.640C>T n.4738C>T c.*736C>T (n.*736C>T) c.1566C>T (p.Arg522=) n.454C>T c.1551C>T (p.Arg517=) n.1633C>T c.948C>T (p.Arg316=) c.1557C>T (p.Arg519=) c.1554C>T (p.Arg518=) | |
| 16 | g.31191421A= | CA2216948378 | FUS | c.1564A= (p.Arg522=) c.1561A= (p.Arg521=) n.641A= n.4739A= c.*737A= (n.*737A=) c.1567A= (p.Arg523=) n.455A= c.1552A= (p.Arg518=) n.1634A= c.949A= (p.Arg317=) c.1558A= (p.Arg520=) c.1555A= (p.Arg519=) | |
| 16 | g.31191421A>C | CA494715367 | FUS | c.1564A>C (p.Arg522=) c.1561A>C (p.Arg521=) n.641A>C n.4739A>C c.*737A>C (n.*737A>C) c.1567A>C (p.Arg523=) n.455A>C c.1552A>C (p.Arg518=) n.1634A>C c.949A>C (p.Arg317=) c.1558A>C (p.Arg520=) c.1555A>C (p.Arg519=) | |
| 16 | g.31191421A>G | CA395677460 | FUS | c.1564A>G (p.Arg522Gly) c.1561A>G (p.Arg521Gly) n.641A>G n.4739A>G c.*737A>G (n.*737A>G) c.1567A>G (p.Arg523Gly) n.455A>G c.1552A>G (p.Arg518Gly) n.1634A>G c.949A>G (p.Arg317Gly) c.1558A>G (p.Arg520Gly) c.1555A>G (p.Arg519Gly) | ClinVar dbSNP |
| 16 | g.31191421A>T | CA395677463 | FUS | c.1564A>T (p.Arg522Trp) c.1561A>T (p.Arg521Trp) n.641A>T n.4739A>T c.*737A>T (n.*737A>T) c.1567A>T (p.Arg523Trp) n.455A>T c.1552A>T (p.Arg518Trp) n.1634A>T c.949A>T (p.Arg317Trp) c.1558A>T (p.Arg520Trp) c.1555A>T (p.Arg519Trp) | |
| 16 | g.31191422G>A | CA395677467 | FUS | c.1565G>A (p.Arg522Lys) c.1562G>A (p.Arg521Lys) n.642G>A n.4740G>A c.*738G>A (n.*738G>A) c.1568G>A (p.Arg523Lys) n.456G>A c.1553G>A (p.Arg518Lys) n.1635G>A c.950G>A (p.Arg317Lys) c.1559G>A (p.Arg520Lys) c.1556G>A (p.Arg519Lys) | dbSNP |
| 16 | g.31191422G>C | CA395677471 | FUS | c.1565G>C (p.Arg522Thr) c.1562G>C (p.Arg521Thr) n.642G>C n.4740G>C c.*738G>C (n.*738G>C) c.1568G>C (p.Arg523Thr) n.456G>C c.1553G>C (p.Arg518Thr) n.1635G>C c.950G>C (p.Arg317Thr) c.1559G>C (p.Arg520Thr) c.1556G>C (p.Arg519Thr) | |
| 16 | g.31191422G= | CA2216948379 | FUS | c.1565G= (p.Arg522=) c.1562G= (p.Arg521=) n.642G= n.4740G= c.*738G= (n.*738G=) c.1568G= (p.Arg523=) n.456G= c.1553G= (p.Arg518=) n.1635G= c.950G= (p.Arg317=) c.1559G= (p.Arg520=) c.1556G= (p.Arg519=) | |
| 16 | g.31191422G>T | CA395677469 | FUS | c.1565G>T (p.Arg522Met) c.1562G>T (p.Arg521Met) n.642G>T n.4740G>T c.*738G>T (n.*738G>T) c.1568G>T (p.Arg523Met) n.456G>T c.1553G>T (p.Arg518Met) n.1635G>T c.950G>T (p.Arg317Met) c.1559G>T (p.Arg520Met) c.1556G>T (p.Arg519Met) | |
| 16 | g.31191423G>A | CA8024119 | FUS | c.1566G>A (p.Arg522=) c.1563G>A (p.Arg521=) n.643G>A n.4741G>A c.*739G>A (n.*739G>A) c.1569G>A (p.Arg523=) n.457G>A c.1554G>A (p.Arg518=) n.1636G>A c.951G>A (p.Arg317=) c.1560G>A (p.Arg520=) c.1557G>A (p.Arg519=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31191423G>C | CA395677477 | FUS | c.1566G>C (p.Arg522Ser) c.1563G>C (p.Arg521Ser) n.643G>C n.4741G>C c.*739G>C (n.*739G>C) c.1569G>C (p.Arg523Ser) n.457G>C c.1554G>C (p.Arg518Ser) n.1636G>C c.951G>C (p.Arg317Ser) c.1560G>C (p.Arg520Ser) c.1557G>C (p.Arg519Ser) | ClinVar |
| 16 | g.31191423G= | CA2216948380 | FUS | c.1566G= (p.Arg522=) c.1563G= (p.Arg521=) n.643G= n.4741G= c.*739G= (n.*739G=) c.1569G= (p.Arg523=) n.457G= c.1554G= (p.Arg518=) n.1636G= c.951G= (p.Arg317=) c.1560G= (p.Arg520=) c.1557G= (p.Arg519=) | |
| 16 | g.31191423G>T | CA395677482 | FUS | c.1566G>T (p.Arg522Ser) c.1563G>T (p.Arg521Ser) n.643G>T n.4741G>T c.*739G>T (n.*739G>T) c.1569G>T (p.Arg523Ser) n.457G>T c.1554G>T (p.Arg518Ser) n.1636G>T c.951G>T (p.Arg317Ser) c.1560G>T (p.Arg520Ser) c.1557G>T (p.Arg519Ser) | COSMIC COSMIC |