Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6023598G>A | CA603483044 | VWF | c.3379+33C>T (n.3379+33C>T) n.421-29664C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023598G= | CA2013874837 | VWF | c.3379+33C= (n.3379+33C=) n.421-29664C= | |
12 | g.6023599G>A | CA2617230392 | VWF | c.3379+32C>T (n.3379+32C>T) n.421-29665C>T | gnomAD v4 |
12 | g.6023599G= | CA2013874838 | VWF | c.3379+32C= (n.3379+32C=) n.421-29665C= | |
12 | g.6023599G>T | CA690505976 | VWF | c.3379+32C>A (n.3379+32C>A) n.421-29665C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023600C= | CA2013874839 | VWF | c.3379+31G= (n.3379+31G=) n.421-29666G= | |
12 | g.6023600C>T | CA944310895 | VWF | c.3379+31G>A (n.3379+31G>A) n.421-29666G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023601A>G | CA2617230393 | VWF | c.3379+30T>C (n.3379+30T>C) n.421-29667T>C | gnomAD v4 |
12 | g.6023603C>G | CA2511841567 | VWF | c.3379+28G>C (n.3379+28G>C) n.421-29669G>C | |
12 | g.6023604T>A | CA6402760 | VWF | c.3379+27A>T (n.3379+27A>T) n.421-29670A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023604T= | CA2013874840 | VWF | c.3379+27A= (n.3379+27A=) n.421-29670A= | |
12 | g.6023607G>A | CA232298108 | VWF | c.3379+24C>T (n.3379+24C>T) n.421-29673C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023607G= | CA2013874841 | VWF | c.3379+24C= (n.3379+24C=) n.421-29673C= | |
12 | g.6023610C= | CA2013874842 | VWF | c.3379+21G= (n.3379+21G=) n.421-29676G= | |
12 | g.6023610C>T | CA944310900 | VWF | c.3379+21G>A (n.3379+21G>A) n.421-29676G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023611A= | CA2013874843 | VWF | c.3379+20T= (n.3379+20T=) n.421-29677T= | |
12 | g.6023611A>G | CA603483045 | VWF | c.3379+20T>C (n.3379+20T>C) n.421-29677T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023612T>C | CA2013874845 | VWF | c.3379+19A>G (n.3379+19A>G) n.421-29678A>G | dbSNP gnomAD v4 |
12 | g.6023612T= | CA2013874844 | VWF | c.3379+19A= (n.3379+19A=) n.421-29678A= | |
12 | g.6023613G>A | CA2575053933 | VWF | c.3379+18C>T (n.3379+18C>T) n.421-29679C>T | gnomAD v4 |
12 | g.6023614A>G | CA2617230394 | VWF | c.3379+17T>C (n.3379+17T>C) n.421-29680T>C | gnomAD v4 |
12 | g.6023615G>A | CA2013874847 | VWF | c.3379+16C>T (n.3379+16C>T) n.421-29681C>T | dbSNP gnomAD v4 |
12 | g.6023615G= | CA2013874846 | VWF | c.3379+16C= (n.3379+16C=) n.421-29681C= | |
12 | g.6023617G>A | CA6402761 | VWF | c.3379+14C>T (n.3379+14C>T) n.421-29683C>T | dbSNP ExAC gnomAD v2 |
12 | g.6023617G= | CA2013874848 | VWF | c.3379+14C= (n.3379+14C=) n.421-29683C= | |
12 | g.6023618C= | CA2013874849 | VWF | c.3379+13G= (n.3379+13G=) n.421-29684G= | |
12 | g.6023618C>T | CA6402762 | VWF | c.3379+13G>A (n.3379+13G>A) n.421-29684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023619G>A | CA6402763 | VWF | c.3379+12C>T (n.3379+12C>T) n.421-29685C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023619G= | CA2013874850 | VWF | c.3379+12C= (n.3379+12C=) n.421-29685C= | |
12 | g.6023621C= | CA2013874851 | VWF | c.3379+10G= (n.3379+10G=) n.421-29687G= | |
12 | g.6023621C>T | CA6402764 | VWF | c.3379+10G>A (n.3379+10G>A) n.421-29687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023623G>A | CA2617230395 | VWF | c.3379+8C>T (n.3379+8C>T) n.421-29689C>T | gnomAD v4 |
12 | g.6023623G>C | CA2617230396 | VWF | c.3379+8C>G (n.3379+8C>G) n.421-29689C>G | gnomAD v4 |
12 | g.6023624T>A | CA2581066940 | VWF | c.3379+7A>T (n.3379+7A>T) n.421-29690A>T | |
12 | g.6023624T>C | CA2575053934 | VWF | c.3379+7A>G (n.3379+7A>G) n.421-29690A>G | |
12 | g.6023624T>G | CA6402765 | VWF | c.3379+7A>C (n.3379+7A>C) n.421-29690A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023624T= | CA2013874852 | VWF | c.3379+7A= (n.3379+7A=) n.421-29690A= | |
12 | g.6023626C>T | CA2695216050 | VWF | c.3379+5G>A (n.3379+5G>A) n.421-29692G>A | |
12 | g.6023628C= | CA2013874853 | VWF | c.3379+3G= (n.3379+3G=) n.421-29694G= | |
12 | g.6023628C>G | CA2725339055 | VWF | c.3379+3G>C (n.3379+3G>C) n.421-29694G>C | dbSNP |
12 | g.6023628C>T | CA2013874854 | VWF | c.3379+3G>A (n.3379+3G>A) n.421-29694G>A | dbSNP |
12 | g.6023629A>C | CA383511752 | VWF | c.3379+2T>G (n.3379+2T>G) n.421-29695T>G | |
12 | g.6023629A>G | CA383511755 | VWF | c.3379+2T>C (n.3379+2T>C) n.421-29695T>C | ClinVar dbSNP |
12 | g.6023629A>T | CA383511756 | VWF | c.3379+2T>A (n.3379+2T>A) n.421-29695T>A | |
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 |
12 | g.6023644C>A | CA478101503 | VWF | c.3366G>T (p.Thr1122=) n.421-29710G>T | |
12 | g.6023644C= | CA2013874863 | VWF | c.3366G= (p.Thr1122=) n.421-29710G= | |
12 | g.6023644C>G | CA478101504 | VWF | c.3366G>C (p.Thr1122=) n.421-29710G>C | |
12 | g.6023644C>T | CA232298110 | VWF | c.3366G>A (p.Thr1122=) n.421-29710G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023645G>A | CA6402770 | VWF | c.3365C>T (p.Thr1122Met) n.421-29711C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023645G>C | CA383511858 | VWF | c.3365C>G (p.Thr1122Arg) n.421-29711C>G | |
12 | g.6023645G= | CA2013874864 | VWF | c.3365C= (p.Thr1122=) n.421-29711C= | |
12 | g.6023645G>T | CA383511859 | VWF | c.3365C>A (p.Thr1122Lys) n.421-29711C>A | |
12 | g.6023646T>A | CA383511864 | VWF | c.3364A>T (p.Thr1122Ser) n.421-29712A>T | |
12 | g.6023646T>C | CA383511868 | VWF | c.3364A>G (p.Thr1122Ala) n.421-29712A>G | |
12 | g.6023646T>G | CA383511871 | VWF | c.3364A>C (p.Thr1122Pro) n.421-29712A>C | |
12 | g.6023647C>A | CA383511875 | VWF | c.3363G>T (p.Arg1121Ser) n.421-29713G>T | |
12 | g.6023647C>G | CA383511877 | VWF | c.3363G>C (p.Arg1121Ser) n.421-29713G>C | |
12 | g.6023647C>T | CA478101510 | VWF | c.3363G>A (p.Arg1121=) n.421-29713G>A | |
12 | g.6023648dup | CA2575053935 | VWF | c.3363dup (p.Thr1122AspfsTer20) n.421-29713dup | |
12 | g.6023648C>A | CA383511879 | VWF | c.3362G>T (p.Arg1121Met) n.421-29714G>T | |
12 | g.6023648C>G | CA383511884 | VWF | c.3362G>C (p.Arg1121Thr) n.421-29714G>C | |
12 | g.6023648C>T | CA383511881 | VWF | c.3362G>A (p.Arg1121Lys) n.421-29714G>A | |
12 | g.6023649T>A | CA383511887 | VWF | c.3361A>T (p.Arg1121Trp) n.421-29715A>T | |
12 | g.6023649T>C | CA383511895 | VWF | c.3361A>G (p.Arg1121Gly) n.421-29715A>G | |
12 | g.6023649T>G | CA478101511 | VWF | c.3361A>C (p.Arg1121=) n.421-29715A>C | |
12 | g.6023650C>A | CA383511899 | VWF | c.3360G>T (p.Trp1120Cys) n.421-29716G>T | |
12 | g.6023650C>G | CA383511902 | VWF | c.3360G>C (p.Trp1120Cys) n.421-29716G>C | |
12 | g.6023650C>T | CA383511905 | VWF | c.3360G>A (p.Trp1120Ter) n.421-29716G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6023651C>A | CA383511906 | VWF | c.3359G>T (p.Trp1120Leu) n.421-29717G>T | |
12 | g.6023651C= | CA2013874865 | VWF | c.3359G= (p.Trp1120=) n.421-29717G= | |
12 | g.6023651C>G | CA228396 | VWF | c.3359G>C (p.Trp1120Ser) n.421-29717G>C | ClinVar dbSNP gnomAD v4 |
12 | g.6023651C>T | CA383511908 | VWF | c.3359G>A (p.Trp1120Ter) n.421-29717G>A | |
12 | g.6023651_6023652insG | CA2499221804 | VWF | c.3358_3359insC (p.Trp1120SerfsTer22) n.421-29718_421-29717insC | ClinVar dbSNP |
12 | g.6023652A>C | CA383511910 | VWF | c.3358T>G (p.Trp1120Gly) n.421-29718T>G | |
12 | g.6023652A>G | CA383511913 | VWF | c.3358T>C (p.Trp1120Arg) n.421-29718T>C | |
12 | g.6023652A>T | CA383511916 | VWF | c.3358T>A (p.Trp1120Arg) n.421-29718T>A | |
12 | g.6023653G>A | CA478101516 | VWF | c.3357C>T (p.Thr1119=) n.421-29719C>T | |
12 | g.6023653G>C | CA478101518 | VWF | c.3357C>G (p.Thr1119=) n.421-29719C>G | |
12 | g.6023653G>T | CA478101519 | VWF | c.3357C>A (p.Thr1119=) n.421-29719C>A | |
12 | g.6023654G>A | CA6402771 | VWF | c.3356C>T (p.Thr1119Ile) n.421-29720C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023654G>C | CA383511922 | VWF | c.3356C>G (p.Thr1119Ser) n.421-29720C>G | |
12 | g.6023654G= | CA2013874866 | VWF | c.3356C= (p.Thr1119=) n.421-29720C= | |
12 | g.6023654G>T | CA383511923 | VWF | c.3356C>A (p.Thr1119Asn) n.421-29720C>A | |
12 | g.6023655T>A | CA383511926 | VWF | c.3355A>T (p.Thr1119Ser) n.421-29721A>T | |
12 | g.6023655T>C | CA383511932 | VWF | c.3355A>G (p.Thr1119Ala) n.421-29721A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023655T>G | CA383511930 | VWF | c.3355A>C (p.Thr1119Pro) n.421-29721A>C | |
12 | g.6023655T= | CA2013874867 | VWF | c.3355A= (p.Thr1119=) n.421-29721A= | |
12 | g.6023656C>A | CA478101523 | VWF | c.3354G>T (p.Val1118=) n.421-29722G>T | |
12 | g.6023656C= | CA2013874868 | VWF | c.3354G= (p.Val1118=) n.421-29722G= | |
12 | g.6023656C>G | CA478101525 | VWF | c.3354G>C (p.Val1118=) n.421-29722G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023656C>T | CA478101524 | VWF | c.3354G>A (p.Val1118=) n.421-29722G>A | dbSNP gnomAD v4 |
12 | g.6023656_6023659dup | CA2617230397 | VWF | c.3351_3354dup (p.Thr1119GlyfsTer24) n.421-29725_421-29722dup | gnomAD v4 |
12 | g.6023657A>C | CA383511934 | VWF | c.3353T>G (p.Val1118Gly) n.421-29723T>G | |
12 | g.6023657A>G | CA383511936 | VWF | c.3353T>C (p.Val1118Ala) n.421-29723T>C | |
12 | g.6023657A>T | CA383511940 | VWF | c.3353T>A (p.Val1118Glu) n.421-29723T>A | |
12 | g.6023658C>A | CA383511944 | VWF | c.3352G>T (p.Val1118Leu) n.421-29724G>T | |
12 | g.6023658C>G | CA383511947 | VWF | c.3352G>C (p.Val1118Leu) n.421-29724G>C | |
12 | g.6023658C>T | CA383511949 | VWF | c.3352G>A (p.Val1118Met) n.421-29724G>A | gnomAD v4 |
12 | g.6023659C>A | CA478101527 | VWF | c.3351G>T (p.Val1117=) n.421-29725G>T | |
12 | g.6023659C= | CA2013874869 | VWF | c.3351G= (p.Val1117=) n.421-29725G= | |
12 | g.6023659C>G | CA478101528 | VWF | c.3351G>C (p.Val1117=) n.421-29725G>C | |
12 | g.6023659C>T | CA6402772 | VWF | c.3351G>A (p.Val1117=) n.421-29725G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023660A>C | CA383511954 | VWF | c.3350T>G (p.Val1117Gly) n.421-29726T>G | |
12 | g.6023660A>G | CA383511956 | VWF | c.3350T>C (p.Val1117Ala) n.421-29726T>C | |
12 | g.6023660A>T | CA383511962 | VWF | c.3350T>A (p.Val1117Glu) n.421-29726T>A | |
12 | g.6023661C>A | CA383511970 | VWF | c.3349G>T (p.Val1117Leu) n.421-29727G>T | gnomAD v4 |
12 | g.6023661C>G | CA383511972 | VWF | c.3349G>C (p.Val1117Leu) n.421-29727G>C | |
12 | g.6023661C>T | CA383511967 | VWF | c.3349G>A (p.Val1117Met) n.421-29727G>A | |
12 | g.6023662C>A | CA383511976 | VWF | c.3348G>T (p.Lys1116Asn) n.421-29728G>T | |
12 | g.6023662C= | CA2013874870 | VWF | c.3348G= (p.Lys1116=) n.421-29728G= | |
12 | g.6023662C>G | CA383511979 | VWF | c.3348G>C (p.Lys1116Asn) n.421-29728G>C | |
12 | g.6023662C>T | CA6402773 | VWF | c.3348G>A (p.Lys1116=) n.421-29728G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023663T>A | CA383511988 | VWF | c.3347A>T (p.Lys1116Met) n.421-29729A>T | |
12 | g.6023663T>C | CA383511991 | VWF | c.3347A>G (p.Lys1116Arg) n.421-29729A>G | |
12 | g.6023663T>G | CA383511994 | VWF | c.3347A>C (p.Lys1116Thr) n.421-29729A>C | |
12 | g.6023664T>A | CA383511998 | VWF | c.3346A>T (p.Lys1116Ter) n.421-29730A>T | |
12 | g.6023664T>C | CA383512000 | VWF | c.3346A>G (p.Lys1116Glu) n.421-29730A>G | gnomAD v4 |
12 | g.6023664T>G | CA383512002 | VWF | c.3346A>C (p.Lys1116Gln) n.421-29730A>C | |
12 | g.6023665_6023666insGTG | CA2695216051 | VWF | c.3346_3347insCCA (p.Gly1115_Lys1116insThr) n.421-29730_421-29729insCCA | |
12 | g.6023665G>A | CA478101535 | VWF | c.3345C>T (p.Gly1115=) n.421-29731C>T | |
12 | g.6023665G>C | CA478101534 | VWF | c.3345C>G (p.Gly1115=) n.421-29731C>G | gnomAD v4 |
12 | g.6023665G= | CA2013874871 | VWF | c.3345C= (p.Gly1115=) n.421-29731C= | |
12 | g.6023665G>T | CA478101533 | VWF | c.3345C>A (p.Gly1115=) n.421-29731C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6023666C>A | CA383512004 | VWF | c.3344G>T (p.Gly1115Val) n.421-29732G>T | |
12 | g.6023666C>G | CA383512008 | VWF | c.3344G>C (p.Gly1115Ala) n.421-29732G>C | |
12 | g.6023666C>T | CA383512011 | VWF | c.3344G>A (p.Gly1115Asp) n.421-29732G>A | |
12 | g.6023667C>A | CA383512019 | VWF | c.3343G>T (p.Gly1115Cys) n.421-29733G>T | |
12 | g.6023667C>G | CA383512021 | VWF | c.3343G>C (p.Gly1115Arg) n.421-29733G>C | gnomAD v4 |
12 | g.6023667C>T | CA383512015 | VWF | c.3343G>A (p.Gly1115Ser) n.421-29733G>A | gnomAD v4 |
12 | g.6023668A>C | CA383512024 | VWF | c.3342T>G (p.His1114Gln) n.421-29734T>G | gnomAD v4 |
12 | g.6023668A>G | CA478101538 | VWF | c.3342T>C (p.His1114=) n.421-29734T>C | gnomAD v4 |
12 | g.6023668A>T | CA383512026 | VWF | c.3342T>A (p.His1114Gln) n.421-29734T>A | |
12 | g.6023669T>A | CA383512030 | VWF | c.3341A>T (p.His1114Leu) n.421-29735A>T | |
12 | g.6023669T>C | CA383512046 | VWF | c.3341A>G (p.His1114Arg) n.421-29735A>G | |
12 | g.6023669T>G | CA383512049 | VWF | c.3341A>C (p.His1114Pro) n.421-29735A>C | |
12 | g.6023670G>A | CA383512060 | VWF | c.3340C>T (p.His1114Tyr) n.421-29736C>T | |
12 | g.6023670G>C | CA383512054 | VWF | c.3340C>G (p.His1114Asp) n.421-29736C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023670G= | CA2013874872 | VWF | c.3340C= (p.His1114=) n.421-29736C= | |
12 | g.6023670G>T | CA383512057 | VWF | c.3340C>A (p.His1114Asn) n.421-29736C>A | dbSNP |
12 | g.6023671C>A | CA383512062 | VWF | c.3339G>T (p.Gln1113His) n.421-29737G>T | |
12 | g.6023671C= | CA2013874873 | VWF | c.3339G= (p.Gln1113=) n.421-29737G= | |
12 | g.6023671C>G | CA232298111 | VWF | c.3339G>C (p.Gln1113His) n.421-29737G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023671C>T | CA478101545 | VWF | c.3339G>A (p.Gln1113=) n.421-29737G>A | dbSNP gnomAD v4 |
12 | g.6023672T>A | CA383512070 | VWF | c.3338A>T (p.Gln1113Leu) n.421-29738A>T | COSMIC |
12 | g.6023672T>C | CA383512073 | VWF | c.3338A>G (p.Gln1113Arg) n.421-29738A>G | |
12 | g.6023672T>G | CA383512076 | VWF | c.3338A>C (p.Gln1113Pro) n.421-29738A>C | |
12 | g.6023673G>A | CA383512086 | VWF | c.3337C>T (p.Gln1113Ter) n.421-29739C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.6023673G>C | CA383512083 | VWF | c.3337C>G (p.Gln1113Glu) n.421-29739C>G | |
12 | g.6023673G= | CA2013874874 | VWF | c.3337C= (p.Gln1113=) n.421-29739C= | |
12 | g.6023673G>T | CA383512079 | VWF | c.3337C>A (p.Gln1113Lys) n.421-29739C>A | |
12 | g.6023674G>A | CA478101550 | VWF | c.3336C>T (p.Ala1112=) n.421-29740C>T | |
12 | g.6023674G>C | CA478101551 | VWF | c.3336C>G (p.Ala1112=) n.421-29740C>G | |
12 | g.6023674G>T | CA478101552 | VWF | c.3336C>A (p.Ala1112=) n.421-29740C>A | gnomAD v4 COSMIC |
12 | g.6023675G>A | CA383512091 | VWF | c.3335C>T (p.Ala1112Val) n.421-29741C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023675G>C | CA383512095 | VWF | c.3335C>G (p.Ala1112Gly) n.421-29741C>G | gnomAD v4 |
12 | g.6023675G= | CA2013874875 | VWF | c.3335C= (p.Ala1112=) n.421-29741C= | |
12 | g.6023675G>T | CA383512094 | VWF | c.3335C>A (p.Ala1112Asp) n.421-29741C>A | |
12 | g.6023676C>A | CA383512098 | VWF | c.3334G>T (p.Ala1112Ser) n.421-29742G>T | |
12 | g.6023676C>G | CA383512104 | VWF | c.3334G>C (p.Ala1112Pro) n.421-29742G>C | |
12 | g.6023676C>T | CA383512101 | VWF | c.3334G>A (p.Ala1112Thr) n.421-29742G>A | |
12 | g.6023677A>C | CA383512107 | VWF | c.3333T>G (p.Cys1111Trp) n.421-29743T>G | |
12 | g.6023677A>G | CA478101557 | VWF | c.3333T>C (p.Cys1111=) n.421-29743T>C | |
12 | g.6023677A>T | CA383512109 | VWF | c.3333T>A (p.Cys1111Ter) n.421-29743T>A | |
12 | g.6023678C>A | CA383512112 | VWF | c.3332G>T (p.Cys1111Phe) n.421-29744G>T | |
12 | g.6023678C= | CA2013874876 | VWF | c.3332G= (p.Cys1111=) n.421-29744G= | |
12 | g.6023678C>G | CA383512114 | VWF | c.3332G>C (p.Cys1111Ser) n.421-29744G>C | |
12 | g.6023678C>T | CA228394 | VWF | c.3332G>A (p.Cys1111Tyr) n.421-29744G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6023679A>C | CA383512118 | VWF | c.3331T>G (p.Cys1111Gly) n.421-29745T>G | |
12 | g.6023679A>G | CA383512119 | VWF | c.3331T>C (p.Cys1111Arg) n.421-29745T>C | |
12 | g.6023679A>T | CA383512122 | VWF | c.3331T>A (p.Cys1111Ser) n.421-29745T>A | |
12 | g.6023680C>A | CA6402774 | VWF | c.3330G>T (p.Val1110=) n.421-29746G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023680C= | CA2013874877 | VWF | c.3330G= (p.Val1110=) n.421-29746G= | |
12 | g.6023680C>G | CA478101561 | VWF | c.3330G>C (p.Val1110=) n.421-29746G>C | |
12 | g.6023680C>T | CA478101562 | VWF | c.3330G>A (p.Val1110=) n.421-29746G>A | dbSNP gnomAD v4 |
12 | g.6023681A= | CA2013874878 | VWF | c.3329T= (p.Val1110=) n.421-29747T= | |
12 | g.6023681A>C | CA383512124 | VWF | c.3329T>G (p.Val1110Gly) n.421-29747T>G | |
12 | g.6023681A>G | CA383512125 | VWF | c.3329T>C (p.Val1110Ala) n.421-29747T>C | |
12 | g.6023681A>T | CA6402775 | VWF | c.3329T>A (p.Val1110Glu) n.421-29747T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023682C>A | CA383512126 | VWF | c.3328G>T (p.Val1110Leu) n.421-29748G>T | gnomAD v4 |
12 | g.6023682C= | CA2013874879 | VWF | c.3328G= (p.Val1110=) n.421-29748G= | |
12 | g.6023682C>G | CA383512127 | VWF | c.3328G>C (p.Val1110Leu) n.421-29748G>C | |
12 | g.6023682C>T | CA6402776 | VWF | c.3328G>A (p.Val1110Met) n.421-29748G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023683G>A | CA6402777 | VWF | c.3327C>T (p.His1109=) n.421-29749C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6023683G>C | CA383512128 | VWF | c.3327C>G (p.His1109Gln) n.421-29749C>G | |
12 | g.6023683G= | CA2013874880 | VWF | c.3327C= (p.His1109=) n.421-29749C= | |
12 | g.6023683G>T | CA383512129 | VWF | c.3327C>A (p.His1109Gln) n.421-29749C>A | |
12 | g.6023684T>A | CA383512130 | VWF | c.3326A>T (p.His1109Leu) n.421-29750A>T | |
12 | g.6023684T>C | CA6402778 | VWF | c.3326A>G (p.His1109Arg) n.421-29750A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6023684T>G | CA383512131 | VWF | c.3326A>C (p.His1109Pro) n.421-29750A>C | |
12 | g.6023684T= | CA2013874881 | VWF | c.3326A= (p.His1109=) n.421-29750A= | |
12 | g.6023685G>A | CA383512132 | VWF | c.3325C>T (p.His1109Tyr) n.421-29751C>T | |
12 | g.6023685G>C | CA383512133 | VWF | c.3325C>G (p.His1109Asp) n.421-29751C>G | |
12 | g.6023685G>T | CA383512134 | VWF | c.3325C>A (p.His1109Asn) n.421-29751C>A | |
12 | g.6023686G>A | CA478101571 | VWF | c.3324C>T (p.Ala1108=) n.421-29752C>T | dbSNP gnomAD v4 |
12 | g.6023686G>C | CA478101576 | VWF | c.3324C>G (p.Ala1108=) n.421-29752C>G | |
12 | g.6023686G= | CA2013874882 | VWF | c.3324C= (p.Ala1108=) n.421-29752C= | |
12 | g.6023686G>T | CA478101575 | VWF | c.3324C>A (p.Ala1108=) n.421-29752C>A | gnomAD v4 |
12 | g.6023687G>A | CA232298112 | VWF | c.3323C>T (p.Ala1108Val) n.421-29753C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023687G>C | CA383512136 | VWF | c.3323C>G (p.Ala1108Gly) n.421-29753C>G | |
12 | g.6023687G= | CA2013874883 | VWF | c.3323C= (p.Ala1108=) n.421-29753C= | |
12 | g.6023687G>T | CA383512135 | VWF | c.3323C>A (p.Ala1108Asp) n.421-29753C>A | |
12 | g.6023688C>A | CA383512137 | VWF | c.3322G>T (p.Ala1108Ser) n.421-29754G>T | |
12 | g.6023688C>G | CA383512138 | VWF | c.3322G>C (p.Ala1108Pro) n.421-29754G>C | |
12 | g.6023688C>T | CA383512139 | VWF | c.3322G>A (p.Ala1108Thr) n.421-29754G>A | gnomAD v4 |
12 | g.6023689A= | CA2013874884 | VWF | c.3321T= (p.Tyr1107=) n.421-29755T= | |
12 | g.6023689A>C | CA383512140 | VWF | c.3321T>G (p.Tyr1107Ter) n.421-29755T>G | |
12 | g.6023689A>G | CA232298113 | VWF | c.3321T>C (p.Tyr1107=) n.421-29755T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023689A>T | CA383512141 | VWF | c.3321T>A (p.Tyr1107Ter) n.421-29755T>A | |
12 | g.6023690T>A | CA383512142 | VWF | c.3320A>T (p.Tyr1107Phe) n.421-29756A>T | |
12 | g.6023690T>C | CA228392 | VWF | c.3320A>G (p.Tyr1107Cys) n.421-29756A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6023690T>G | CA383512143 | VWF | c.3320A>C (p.Tyr1107Ser) n.421-29756A>C | |
12 | g.6023690T= | CA2013874885 | VWF | c.3320A= (p.Tyr1107=) n.421-29756A= | |
12 | g.6023691A= | CA2013874886 | VWF | c.3319T= (p.Tyr1107=) n.421-29757T= | |
12 | g.6023691A>C | CA383512144 | VWF | c.3319T>G (p.Tyr1107Asp) n.421-29757T>G | |
12 | g.6023691A>G | CA383512145 | VWF | c.3319T>C (p.Tyr1107His) n.421-29757T>C | dbSNP |
12 | g.6023691A>T | CA383512146 | VWF | c.3319T>A (p.Tyr1107Asn) n.421-29757T>A | gnomAD v4 |
12 | g.6023691dup | CA2617230399 | VWF | c.3319dup (p.Tyr1107LeufsTer?) n.421-29757dup | gnomAD v4 |
12 | g.6023692G>A | CA478101579 | VWF | c.3318C>T (p.Ala1106=) n.421-29758C>T | dbSNP |
12 | g.6023692G>C | CA478101580 | VWF | c.3318C>G (p.Ala1106=) n.421-29758C>G | |
12 | g.6023692G= | CA2013874887 | VWF | c.3318C= (p.Ala1106=) n.421-29758C= | |
12 | g.6023692G>T | CA478101581 | VWF | c.3318C>A (p.Ala1106=) n.421-29758C>A | |
12 | g.6023693del | CA478101582 | VWF | c.3318del (p.Tyr1107MetfsTer12) n.421-29758del | COSMIC |
12 | g.6023693G>A | CA383512148 | VWF | c.3317C>T (p.Ala1106Val) n.421-29759C>T | |
12 | g.6023693G>C | CA383512149 | VWF | c.3317C>G (p.Ala1106Gly) n.421-29759C>G | |
12 | g.6023693G>T | CA383512147 | VWF | c.3317C>A (p.Ala1106Asp) n.421-29759C>A | |
12 | g.6023694C>A | CA383512150 | VWF | c.3316G>T (p.Ala1106Ser) n.421-29760G>T | COSMIC |
12 | g.6023694C>G | CA383512151 | VWF | c.3316G>C (p.Ala1106Pro) n.421-29760G>C | |
12 | g.6023694C>T | CA383512152 | VWF | c.3316G>A (p.Ala1106Thr) n.421-29760G>A | |
12 | g.6023695A>C | CA478101583 | VWF | c.3315T>G (p.Ala1105=) n.421-29761T>G | |
12 | g.6023695A>G | CA478101584 | VWF | c.3315T>C (p.Ala1105=) n.421-29761T>C | |
12 | g.6023695A>T | CA478101586 | VWF | c.3315T>A (p.Ala1105=) n.421-29761T>A | |
12 | g.6023696G>A | CA383512153 | VWF | c.3314C>T (p.Ala1105Val) n.421-29762C>T | |
12 | g.6023696G>C | CA383512154 | VWF | c.3314C>G (p.Ala1105Gly) n.421-29762C>G | |
12 | g.6023696G= | CA2013874888 | VWF | c.3314C= (p.Ala1105=) n.421-29762C= | |
12 | g.6023696G>T | CA383512155 | VWF | c.3314C>A (p.Ala1105Asp) n.421-29762C>A | ClinVar dbSNP |
12 | g.6023697C>A | CA383512156 | VWF | c.3313G>T (p.Ala1105Ser) n.421-29763G>T | |
12 | g.6023697C>G | CA383512158 | VWF | c.3313G>C (p.Ala1105Pro) n.421-29763G>C | |
12 | g.6023697C>T | CA383512157 | VWF | c.3313G>A (p.Ala1105Thr) n.421-29763G>A | |
12 | g.6023698A>C | CA383512159 | VWF | c.3312T>G (p.Ile1104Met) n.421-29764T>G | |
12 | g.6023698A>G | CA478101594 | VWF | c.3312T>C (p.Ile1104=) n.421-29764T>C | |
12 | g.6023698A>T | CA478101595 | VWF | c.3312T>A (p.Ile1104=) n.421-29764T>A |