| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6023630C>A | CA383511757 | VWF | c.3379+1G>T (n.3379+1G>T) n.421-29696G>T | |
| 12 | g.6023630C= | CA2013874855 | VWF | c.3379+1G= (n.3379+1G=) n.421-29696G= | |
| 12 | g.6023630C>G | CA383511759 | VWF | c.3379+1G>C (n.3379+1G>C) n.421-29696G>C | |
| 12 | g.6023630C>T | CA228398 | VWF | c.3379+1G>A (n.3379+1G>A) n.421-29696G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6023631G>A | CA6402766 | VWF | c.3379C>T (p.Pro1127Ser) n.421-29697C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6023631G>C | CA383511763 | VWF | c.3379C>G (p.Pro1127Ala) n.421-29697C>G | |
| 12 | g.6023631G= | CA2013874856 | VWF | c.3379C= (p.Pro1127=) n.421-29697C= | |
| 12 | g.6023631G>T | CA383511765 | VWF | c.3379C>A (p.Pro1127Thr) n.421-29697C>A | |
| 12 | g.6023632G>A | CA478101488 | VWF | c.3378C>T (p.Cys1126=) n.421-29698C>T | gnomAD v4 |
| 12 | g.6023632G>C | CA383511768 | VWF | c.3378C>G (p.Cys1126Trp) n.421-29698C>G | |
| 12 | g.6023632G>T | CA383511771 | VWF | c.3378C>A (p.Cys1126Ter) n.421-29698C>A | |
| 12 | g.6023633C>A | CA383511774 | VWF | c.3377G>T (p.Cys1126Phe) n.421-29699G>T | |
| 12 | g.6023633C= | CA2013874857 | VWF | c.3377G= (p.Cys1126=) n.421-29699G= | |
| 12 | g.6023633C>G | CA383511777 | VWF | c.3377G>C (p.Cys1126Ser) n.421-29699G>C | |
| 12 | g.6023633C>T | CA383511780 | VWF | c.3377G>A (p.Cys1126Tyr) n.421-29699G>A | ClinVar dbSNP |
| 12 | g.6023634A>C | CA383511788 | VWF | c.3376T>G (p.Cys1126Gly) n.421-29700T>G | |
| 12 | g.6023634A>G | CA383511784 | VWF | c.3376T>C (p.Cys1126Arg) n.421-29700T>C | ClinVar |
| 12 | g.6023634A>T | CA383511786 | VWF | c.3376T>A (p.Cys1126Ser) n.421-29700T>A | |
| 12 | g.6023635C>A | CA6402767 | VWF | c.3375G>T (p.Leu1125Phe) n.421-29701G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6023635C= | CA2013874858 | VWF | c.3375G= (p.Leu1125=) n.421-29701G= | |
| 12 | g.6023635C>G | CA383511795 | VWF | c.3375G>C (p.Leu1125Phe) n.421-29701G>C | |
| 12 | g.6023635C>T | CA6402768 | VWF | c.3375G>A (p.Leu1125=) n.421-29701G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6023636A= | CA2013874859 | VWF | c.3374T= (p.Leu1125=) n.421-29702T= | |
| 12 | g.6023636A>C | CA383511798 | VWF | c.3374T>G (p.Leu1125Trp) n.421-29702T>G | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6023636A>G | CA383511801 | VWF | c.3374T>C (p.Leu1125Ser) n.421-29702T>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6023636A>T | CA383511804 | VWF | c.3374T>A (p.Leu1125Ter) n.421-29702T>A | |
| 12 | g.6023637A>C | CA383511809 | VWF | c.3373T>G (p.Leu1125Val) n.421-29703T>G | |
| 12 | g.6023637A>G | CA478101492 | VWF | c.3373T>C (p.Leu1125=) n.421-29703T>C | gnomAD v4 |
| 12 | g.6023637A>T | CA383511806 | VWF | c.3373T>A (p.Leu1125Met) n.421-29703T>A | |
| 12 | g.6023638T>A | CA478101493 | VWF | c.3372A>T (p.Thr1124=) n.421-29704A>T | |
| 12 | g.6023638T>C | CA478101494 | VWF | c.3372A>G (p.Thr1124=) n.421-29704A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6023638T>G | CA478101495 | VWF | c.3372A>C (p.Thr1124=) n.421-29704A>C | |
| 12 | g.6023638T= | CA2013874860 | VWF | c.3372A= (p.Thr1124=) n.421-29704A= | |
| 12 | g.6023639G>A | CA383511813 | VWF | c.3371C>T (p.Thr1124Ile) n.421-29705C>T | gnomAD v4 |
| 12 | g.6023639G>C | CA383511815 | VWF | c.3371C>G (p.Thr1124Arg) n.421-29705C>G | |
| 12 | g.6023639G>T | CA383511816 | VWF | c.3371C>A (p.Thr1124Lys) n.421-29705C>A | |
| 12 | g.6023640T>A | CA383511820 | VWF | c.3370A>T (p.Thr1124Ser) n.421-29706A>T | gnomAD v4 |
| 12 | g.6023640T>C | CA6402769 | VWF | c.3370A>G (p.Thr1124Ala) n.421-29706A>G | dbSNP ExAC gnomAD v2 |
| 12 | g.6023640T>G | CA383511825 | VWF | c.3370A>C (p.Thr1124Pro) n.421-29706A>C | |
| 12 | g.6023640T= | CA2013874861 | VWF | c.3370A= (p.Thr1124=) n.421-29706A= | |
| 12 | g.6023641G>A | CA478101497 | VWF | c.3369C>T (p.Ala1123=) n.421-29707C>T | |
| 12 | g.6023641G>C | CA478101498 | VWF | c.3369C>G (p.Ala1123=) n.421-29707C>G | |
| 12 | g.6023641G>T | CA478101499 | VWF | c.3369C>A (p.Ala1123=) n.421-29707C>A | |
| 12 | g.6023642G>A | CA383511836 | VWF | c.3368C>T (p.Ala1123Val) n.421-29708C>T | gnomAD v4 |
| 12 | g.6023642G>C | CA383511829 | VWF | c.3368C>G (p.Ala1123Gly) n.421-29708C>G | |
| 12 | g.6023642G>T | CA383511832 | VWF | c.3368C>A (p.Ala1123Asp) n.421-29708C>A | |
| 12 | g.6023643C>A | CA383511839 | VWF | c.3367G>T (p.Ala1123Ser) n.421-29709G>T | |
| 12 | g.6023643C= | CA2013874862 | VWF | c.3367G= (p.Ala1123=) n.421-29709G= | |
| 12 | g.6023643C>G | CA383511848 | VWF | c.3367G>C (p.Ala1123Pro) n.421-29709G>C | |
| 12 | g.6023643C>T | CA232298109 | VWF | c.3367G>A (p.Ala1123Thr) n.421-29709G>A | dbSNP |