Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018612G>A | CA478501973 | VWF | c.4806C>T (p.Asn1602=) n.421-24678C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018612G>C | CA383499169 | VWF | c.4806C>G (p.Asn1602Lys) n.421-24678C>G | |
12 | g.6018612G= | CA2013872596 | VWF | c.4806C= (p.Asn1602=) n.421-24678C= | |
12 | g.6018612G>T | CA383499171 | VWF | c.4806C>A (p.Asn1602Lys) n.421-24678C>A | |
12 | g.6018613T>A | CA383499175 | VWF | c.4805A>T (p.Asn1602Ile) n.421-24679A>T | |
12 | g.6018613T>C | CA383499178 | VWF | c.4805A>G (p.Asn1602Ser) n.421-24679A>G | gnomAD v4 |
12 | g.6018613T>G | CA383499177 | VWF | c.4805A>C (p.Asn1602Thr) n.421-24679A>C | |
12 | g.6018614T>A | CA383499184 | VWF | c.4804A>T (p.Asn1602Tyr) n.421-24680A>T | |
12 | g.6018614T>C | CA383499192 | VWF | c.4804A>G (p.Asn1602Asp) n.421-24680A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018614T>G | CA383499194 | VWF | c.4804A>C (p.Asn1602His) n.421-24680A>C | |
12 | g.6018614T= | CA2013872597 | VWF | c.4804A= (p.Asn1602=) n.421-24680A= | |
12 | g.6018615G>A | CA478501980 | VWF | c.4803C>T (p.Pro1601=) n.421-24681C>T | COSMIC |
12 | g.6018615G>C | CA478501981 | VWF | c.4803C>G (p.Pro1601=) n.421-24681C>G | |
12 | g.6018615G>T | CA478501983 | VWF | c.4803C>A (p.Pro1601=) n.421-24681C>A | |
12 | g.6018616G>A | CA383499199 | VWF | c.4802C>T (p.Pro1601Leu) n.421-24682C>T | |
12 | g.6018616G>C | CA383499203 | VWF | c.4802C>G (p.Pro1601Arg) n.421-24682C>G | |
12 | g.6018616G>T | CA383499204 | VWF | c.4802C>A (p.Pro1601His) n.421-24682C>A | |
12 | g.6018617G>A | CA383499205 | VWF | c.4801C>T (p.Pro1601Ser) n.421-24683C>T | dbSNP |
12 | g.6018617G>C | CA383499206 | VWF | c.4801C>G (p.Pro1601Ala) n.421-24683C>G | |
12 | g.6018617G= | CA2013872598 | VWF | c.4801C= (p.Pro1601=) n.421-24683C= | |
12 | g.6018617G>T | CA383499207 | VWF | c.4801C>A (p.Pro1601Thr) n.421-24683C>A | |
12 | g.6018618C>A | CA478501990 | VWF | c.4800G>T (p.Ala1600=) n.421-24684G>T | |
12 | g.6018618C= | CA2013872599 | VWF | c.4800G= (p.Ala1600=) n.421-24684G= | |
12 | g.6018618C>G | CA478501991 | VWF | c.4800G>C (p.Ala1600=) n.421-24684G>C | |
12 | g.6018618C>T | CA6402455 | VWF | c.4800G>A (p.Ala1600=) n.421-24684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6018619G>A | CA6402456 | VWF | c.4799C>T (p.Ala1600Val) n.421-24685C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018619G>C | CA383499221 | VWF | c.4799C>G (p.Ala1600Gly) n.421-24685C>G | |
12 | g.6018619G= | CA2013872600 | VWF | c.4799C= (p.Ala1600=) n.421-24685C= | |
12 | g.6018619G>T | CA383499219 | VWF | c.4799C>A (p.Ala1600Glu) n.421-24685C>A | |
12 | g.6018620C>A | CA383499226 | VWF | c.4798G>T (p.Ala1600Ser) n.421-24686G>T | |
12 | g.6018620C>G | CA383499227 | VWF | c.4798G>C (p.Ala1600Pro) n.421-24686G>C | |
12 | g.6018620C>T | CA383499229 | VWF | c.4798G>A (p.Ala1600Thr) n.421-24686G>A | |
12 | g.6018621C>A | CA383499233 | VWF | c.4797G>T (p.Gln1599His) n.421-24687G>T | |
12 | g.6018621C>G | CA383499234 | VWF | c.4797G>C (p.Gln1599His) n.421-24687G>C | |
12 | g.6018621C>T | CA478502001 | VWF | c.4797G>A (p.Gln1599=) n.421-24687G>A | |
12 | g.6018622T>A | CA383499242 | VWF | c.4796A>T (p.Gln1599Leu) n.421-24688A>T | COSMIC |
12 | g.6018622T>C | CA383499239 | VWF | c.4796A>G (p.Gln1599Arg) n.421-24688A>G | |
12 | g.6018622T>G | CA383499238 | VWF | c.4796A>C (p.Gln1599Pro) n.421-24688A>C | |
12 | g.6018623G>A | CA383499245 | VWF | c.4795C>T (p.Gln1599Ter) n.421-24689C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018623G>C | CA383499248 | VWF | c.4795C>G (p.Gln1599Glu) n.421-24689C>G | |
12 | g.6018623G= | CA2013872601 | VWF | c.4795C= (p.Gln1599=) n.421-24689C= | |
12 | g.6018623G>T | CA383499251 | VWF | c.4795C>A (p.Gln1599Lys) n.421-24689C>A | |
12 | g.6018624C>A | CA383499262 | VWF | c.4794G>T (p.Glu1598Asp) n.421-24690G>T | |
12 | g.6018624C= | CA2013872602 | VWF | c.4794G= (p.Glu1598=) n.421-24690G= | |
12 | g.6018624C>G | CA383499264 | VWF | c.4794G>C (p.Glu1598Asp) n.421-24690G>C | |
12 | g.6018624C>T | CA6402457 | VWF | c.4794G>A (p.Glu1598=) n.421-24690G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018625T>A | CA383499272 | VWF | c.4793A>T (p.Glu1598Val) n.421-24691A>T | |
12 | g.6018625T>C | CA383499279 | VWF | c.4793A>G (p.Glu1598Gly) n.421-24691A>G | |
12 | g.6018625T>G | CA383499275 | VWF | c.4793A>C (p.Glu1598Ala) n.421-24691A>C | |
12 | g.6018626C>A | CA383499283 | VWF | c.4792G>T (p.Glu1598Ter) n.421-24692G>T | ClinVar dbSNP |