| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6016097C>A | CA383494869 | VWF | c.5447G>T (p.Arg1816Met) n.421-22163G>T | |
| 12 | g.6016097C= | CA2013871456 | VWF | c.5447G= (p.Arg1816=) n.421-22163G= | |
| 12 | g.6016097C>G | CA383494866 | VWF | c.5447G>C (p.Arg1816Thr) n.421-22163G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6016097C>T | CA383494867 | VWF | c.5447G>A (p.Arg1816Lys) n.421-22163G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6016098T>A | CA383494872 | VWF | c.5446A>T (p.Arg1816Trp) n.421-22164A>T | |
| 12 | g.6016098T>C | CA383494874 | VWF | c.5446A>G (p.Arg1816Gly) n.421-22164A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6016098T>G | CA478100643 | VWF | c.5446A>C (p.Arg1816=) n.421-22164A>C | gnomAD v4 |
| 12 | g.6016098T= | CA2013871457 | VWF | c.5446A= (p.Arg1816=) n.421-22164A= | |
| 12 | g.6016099G>A | CA478100644 | VWF | c.5445C>T (p.Ala1815=) n.421-22165C>T | |
| 12 | g.6016099G>C | CA6402276 | VWF | c.5445C>G (p.Ala1815=) n.421-22165C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6016099G= | CA2013871458 | VWF | c.5445C= (p.Ala1815=) n.421-22165C= | |
| 12 | g.6016099G>T | CA478100645 | VWF | c.5445C>A (p.Ala1815=) n.421-22165C>A | gnomAD v4 |
| 12 | g.6016100G>A | CA383494880 | VWF | c.5444C>T (p.Ala1815Val) n.421-22166C>T | |
| 12 | g.6016100G>C | CA383494887 | VWF | c.5444C>G (p.Ala1815Gly) n.421-22166C>G | |
| 12 | g.6016100G>T | CA383494890 | VWF | c.5444C>A (p.Ala1815Asp) n.421-22166C>A | |
| 12 | g.6016101C>A | CA383494893 | VWF | c.5443G>T (p.Ala1815Ser) n.421-22167G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6016101C= | CA2013871459 | VWF | c.5443G= (p.Ala1815=) n.421-22167G= | |
| 12 | g.6016101C>G | CA383494896 | VWF | c.5443G>C (p.Ala1815Pro) n.421-22167G>C | |
| 12 | g.6016101C>T | CA6402277 | VWF | c.5443G>A (p.Ala1815Thr) n.421-22167G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6016102G>A | CA6402278 | VWF | c.5442C>T (p.Ala1814=) n.421-22168C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.6016102G>C | CA478100646 | VWF | c.5442C>G (p.Ala1814=) n.421-22168C>G | |
| 12 | g.6016102G= | CA2013871460 | VWF | c.5442C= (p.Ala1814=) n.421-22168C= | |
| 12 | g.6016102G>T | CA478100647 | VWF | c.5442C>A (p.Ala1814=) n.421-22168C>A | ClinVar dbSNP |
| 12 | g.6016103G>A | CA383494904 | VWF | c.5441C>T (p.Ala1814Val) n.421-22169C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6016103G>C | CA383494905 | VWF | c.5441C>G (p.Ala1814Gly) n.421-22169C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6016103G= | CA2013871461 | VWF | c.5441C= (p.Ala1814=) n.421-22169C= | |
| 12 | g.6016103G>T | CA383494907 | VWF | c.5441C>A (p.Ala1814Asp) n.421-22169C>A | |
| 12 | g.6016108_6016119del | CA2617229105 | VWF | c.5430_5441del (p.Ala1811_Ala1814del) n.421-22180_421-22169del | gnomAD v4 |
| 12 | g.6016104C>A | CA383494911 | VWF | c.5440G>T (p.Ala1814Ser) n.421-22170G>T | |
| 12 | g.6016104C>G | CA383494917 | VWF | c.5440G>C (p.Ala1814Pro) n.421-22170G>C | |
| 12 | g.6016104C>T | CA383494915 | VWF | c.5440G>A (p.Ala1814Thr) n.421-22170G>A | |
| 12 | g.6016105A>C | CA383494921 | VWF | c.5439T>G (p.Asp1813Glu) n.421-22171T>G | |
| 12 | g.6016105A>G | CA478100648 | VWF | c.5439T>C (p.Asp1813=) n.421-22171T>C | |
| 12 | g.6016105A>T | CA383494924 | VWF | c.5439T>A (p.Asp1813Glu) n.421-22171T>A | |
| 12 | g.6016106T>A | CA383494930 | VWF | c.5438A>T (p.Asp1813Val) n.421-22172A>T | |
| 12 | g.6016106T>C | CA383494933 | VWF | c.5438A>G (p.Asp1813Gly) n.421-22172A>G | dbSNP |
| 12 | g.6016106T>G | CA383494936 | VWF | c.5438A>C (p.Asp1813Ala) n.421-22172A>C | gnomAD v4 |
| 12 | g.6016106T= | CA2013871462 | VWF | c.5438A= (p.Asp1813=) n.421-22172A= | |
| 12 | g.6016107C>A | CA383494938 | VWF | c.5437G>T (p.Asp1813Tyr) n.421-22173G>T | COSMIC |
| 12 | g.6016107C>G | CA383494939 | VWF | c.5437G>C (p.Asp1813His) n.421-22173G>C | |
| 12 | g.6016107C>T | CA383494940 | VWF | c.5437G>A (p.Asp1813Asn) n.421-22173G>A | dbSNP |
| 12 | g.6016108A>C | CA478100649 | VWF | c.5436T>G (p.Ala1812=) n.421-22174T>G | |
| 12 | g.6016108A>G | CA478100650 | VWF | c.5436T>C (p.Ala1812=) n.421-22174T>C | |
| 12 | g.6016108A>T | CA478100651 | VWF | c.5436T>A (p.Ala1812=) n.421-22174T>A | |
| 12 | g.6016109G>A | CA383494941 | VWF | c.5435C>T (p.Ala1812Val) n.421-22175C>T | |
| 12 | g.6016109G>C | CA383494944 | VWF | c.5435C>G (p.Ala1812Gly) n.421-22175C>G | |
| 12 | g.6016109G>T | CA383494947 | VWF | c.5435C>A (p.Ala1812Asp) n.421-22175C>A | |
| 12 | g.6016110C>A | CA383494948 | VWF | c.5434G>T (p.Ala1812Ser) n.421-22176G>T | |
| 12 | g.6016110C>G | CA383494949 | VWF | c.5434G>C (p.Ala1812Pro) n.421-22176G>C | |
| 12 | g.6016110C>T | CA383494952 | VWF | c.5434G>A (p.Ala1812Thr) n.421-22176G>A | COSMIC |