Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6016197A= | CA2013871502 | VWF | c.5347T= (p.Ser1783=) n.421-22263T= | |
12 | g.6016197A>C | CA228715 | VWF | c.5347T>G (p.Ser1783Ala) n.421-22263T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016197A>G | CA383495593 | VWF | c.5347T>C (p.Ser1783Pro) n.421-22263T>C | |
12 | g.6016197A>T | CA383495595 | VWF | c.5347T>A (p.Ser1783Thr) n.421-22263T>A | |
12 | g.6016198A>C | CA478100747 | VWF | c.5346T>G (p.Thr1782=) n.421-22264T>G | |
12 | g.6016198A>G | CA478100751 | VWF | c.5346T>C (p.Thr1782=) n.421-22264T>C | |
12 | g.6016198A>T | CA478100748 | VWF | c.5346T>A (p.Thr1782=) n.421-22264T>A | |
12 | g.6016199G>A | CA383495598 | VWF | c.5345C>T (p.Thr1782Ile) n.421-22265C>T | |
12 | g.6016199G>C | CA383495600 | VWF | c.5345C>G (p.Thr1782Ser) n.421-22265C>G | |
12 | g.6016199G>T | CA383495604 | VWF | c.5345C>A (p.Thr1782Asn) n.421-22265C>A | |
12 | g.6016200T>A | CA383495608 | VWF | c.5344A>T (p.Thr1782Ser) n.421-22266A>T | |
12 | g.6016200T>C | CA383495611 | VWF | c.5344A>G (p.Thr1782Ala) n.421-22266A>G | gnomAD v4 |
12 | g.6016200T>G | CA383495614 | VWF | c.5344A>C (p.Thr1782Pro) n.421-22266A>C | |
12 | g.6016201C>A | CA383495617 | VWF | c.5343G>T (p.Leu1781Phe) n.421-22267G>T | |
12 | g.6016201C>G | CA383495620 | VWF | c.5343G>C (p.Leu1781Phe) n.421-22267G>C | |
12 | g.6016201C>T | CA478100753 | VWF | c.5343G>A (p.Leu1781=) n.421-22267G>A | |
12 | g.6016202A= | CA2013871503 | VWF | c.5342T= (p.Leu1781=) n.421-22268T= | |
12 | g.6016202A>C | CA383495622 | VWF | c.5342T>G (p.Leu1781Trp) n.421-22268T>G | gnomAD v4 |
12 | g.6016202A>G | CA383495628 | VWF | c.5342T>C (p.Leu1781Ser) n.421-22268T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016202A>T | CA383495631 | VWF | c.5342T>A (p.Leu1781Ter) n.421-22268T>A | |
12 | g.6016203A>C | CA383495638 | VWF | c.5341T>G (p.Leu1781Val) n.421-22269T>G | COSMIC |
12 | g.6016203A>G | CA478100755 | VWF | c.5341T>C (p.Leu1781=) n.421-22269T>C | |
12 | g.6016203A>T | CA383495640 | VWF | c.5341T>A (p.Leu1781Met) n.421-22269T>A | |
12 | g.6016204G>A | CA478100756 | VWF | c.5340C>T (p.Tyr1780=) n.421-22270C>T | gnomAD v4 |
12 | g.6016204G>C | CA383495642 | VWF | c.5340C>G (p.Tyr1780Ter) n.421-22270C>G | |
12 | g.6016204G>T | CA383495645 | VWF | c.5340C>A (p.Tyr1780Ter) n.421-22270C>A | |
12 | g.6016205T>A | CA383495648 | VWF | c.5339A>T (p.Tyr1780Phe) n.421-22271A>T | |
12 | g.6016205T>C | CA383495649 | VWF | c.5339A>G (p.Tyr1780Cys) n.421-22271A>G | |
12 | g.6016205T>G | CA383495650 | VWF | c.5339A>C (p.Tyr1780Ser) n.421-22271A>C | |
12 | g.6016206A= | CA2013871504 | VWF | c.5338T= (p.Tyr1780=) n.421-22272T= | |
12 | g.6016206A>C | CA6402289 | VWF | c.5338T>G (p.Tyr1780Asp) n.421-22272T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016206A>G | CA243721 | VWF | c.5338T>C (p.Tyr1780His) n.421-22272T>C | ClinVar dbSNP |
12 | g.6016206A>T | CA383495652 | VWF | c.5338T>A (p.Tyr1780Asn) n.421-22272T>A | ClinVar dbSNP |
12 | g.6016207T>A | CA478100757 | VWF | c.5337A>T (p.Arg1779=) n.421-22273A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016207T>C | CA478100758 | VWF | c.5337A>G (p.Arg1779=) n.421-22273A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016207T>G | CA478100759 | VWF | c.5337A>C (p.Arg1779=) n.421-22273A>C | |
12 | g.6016207T= | CA2013871505 | VWF | c.5337A= (p.Arg1779=) n.421-22273A= | |
12 | g.6016208C>A | CA383495656 | VWF | c.5336G>T (p.Arg1779Leu) n.421-22274G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016208C= | CA2013871506 | VWF | c.5336G= (p.Arg1779=) n.421-22274G= | |
12 | g.6016208C>G | CA383495660 | VWF | c.5336G>C (p.Arg1779Pro) n.421-22274G>C | |
12 | g.6016208C>T | CA6402290 | VWF | c.5336G>A (p.Arg1779Gln) n.421-22274G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016209G>A | CA228713 | VWF | c.5335C>T (p.Arg1779Ter) n.421-22275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016209G>C | CA383495663 | VWF | c.5335C>G (p.Arg1779Gly) n.421-22275C>G | |
12 | g.6016209G= | CA2013871507 | VWF | c.5335C= (p.Arg1779=) n.421-22275C= | |
12 | g.6016209G>T | CA478100762 | VWF | c.5335C>A (p.Arg1779=) n.421-22275C>A | |
12 | g.6016210C>A | CA478100764 | VWF | c.5334G>T (p.Val1778=) n.421-22276G>T | |
12 | g.6016210C>G | CA478100766 | VWF | c.5334G>C (p.Val1778=) n.421-22276G>C | |
12 | g.6016210C>T | CA478100765 | VWF | c.5334G>A (p.Val1778=) n.421-22276G>A | |
12 | g.6016211A= | CA2013871508 | VWF | c.5333T= (p.Val1778=) n.421-22277T= | |
12 | g.6016211A>C | CA383495665 | VWF | c.5333T>G (p.Val1778Gly) n.421-22277T>G |