Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6034714dup | CA2617231248 | VWF | c.2662dup (p.Glu888GlyfsTer14) n.421-40777dup | gnomAD v4 |
12 | g.6034712C>A | CA478102953 | VWF | c.2661G>T (p.Gly887=) n.421-40778G>T | |
12 | g.6034712C>G | CA478102955 | VWF | c.2661G>C (p.Gly887=) n.421-40778G>C | |
12 | g.6034712C>T | CA478102954 | VWF | c.2661G>A (p.Gly887=) n.421-40778G>A | gnomAD v4 |
12 | g.6034713C>A | CA383520007 | VWF | c.2660G>T (p.Gly887Val) n.421-40779G>T | |
12 | g.6034713C>G | CA383520009 | VWF | c.2660G>C (p.Gly887Ala) n.421-40779G>C | |
12 | g.6034713C>T | CA383520011 | VWF | c.2660G>A (p.Gly887Glu) n.421-40779G>A | |
12 | g.6034714C>A | CA383520013 | VWF | c.2659G>T (p.Gly887Trp) n.421-40780G>T | gnomAD v4 |
12 | g.6034714C= | CA2013880103 | VWF | c.2659G= (p.Gly887=) n.421-40780G= | |
12 | g.6034714C>G | CA383520016 | VWF | c.2659G>C (p.Gly887Arg) n.421-40780G>C | gnomAD v4 |
12 | g.6034714C>T | CA6402995 | VWF | c.2659G>A (p.Gly887Arg) n.421-40780G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6034715G>A | CA478102957 | VWF | c.2658C>T (p.Pro886=) n.421-40781C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034715G>C | CA478102958 | VWF | c.2658C>G (p.Pro886=) n.421-40781C>G | |
12 | g.6034715G= | CA2013880106 | VWF | c.2658C= (p.Pro886=) n.421-40781C= | |
12 | g.6034715G>T | CA478102959 | VWF | c.2658C>A (p.Pro886=) n.421-40781C>A | |
12 | g.6034716G>A | CA383520018 | VWF | c.2657C>T (p.Pro886Leu) n.421-40782C>T | gnomAD v4 |
12 | g.6034716G>C | CA383520022 | VWF | c.2657C>G (p.Pro886Arg) n.421-40782C>G | |
12 | g.6034716G>T | CA383520020 | VWF | c.2657C>A (p.Pro886His) n.421-40782C>A | |
12 | g.6034717G>A | CA232299273 | VWF | c.2656C>T (p.Pro886Ser) n.421-40783C>T | dbSNP COSMIC |
12 | g.6034717G>C | CA383520024 | VWF | c.2656C>G (p.Pro886Ala) n.421-40783C>G | |
12 | g.6034717G= | CA2013880108 | VWF | c.2656C= (p.Pro886=) n.421-40783C= | |
12 | g.6034717G>T | CA383520023 | VWF | c.2656C>A (p.Pro886Thr) n.421-40783C>A | |
12 | g.6034718G>A | CA478102961 | VWF | c.2655C>T (p.Phe885=) n.421-40784C>T | dbSNP |
12 | g.6034718G>C | CA383520025 | VWF | c.2655C>G (p.Phe885Leu) n.421-40784C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034718G= | CA2013880111 | VWF | c.2655C= (p.Phe885=) n.421-40784C= | |
12 | g.6034718G>T | CA383520026 | VWF | c.2655C>A (p.Phe885Leu) n.421-40784C>A | |
12 | g.6034719A= | CA2013880113 | VWF | c.2654T= (p.Phe885=) n.421-40785T= | |
12 | g.6034719A>C | CA383520027 | VWF | c.2654T>G (p.Phe885Cys) n.421-40785T>G | |
12 | g.6034719A>G | CA232299274 | VWF | c.2654T>C (p.Phe885Ser) n.421-40785T>C | dbSNP |
12 | g.6034719A>T | CA383520029 | VWF | c.2654T>A (p.Phe885Tyr) n.421-40785T>A | |
12 | g.6034720A= | CA2013880115 | VWF | c.2653T= (p.Phe885=) n.421-40786T= | |
12 | g.6034720A>C | CA383520030 | VWF | c.2653T>G (p.Phe885Val) n.421-40786T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6034720A>G | CA6402996 | VWF | c.2653T>C (p.Phe885Leu) n.421-40786T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034720A>T | CA383520031 | VWF | c.2653T>A (p.Phe885Ile) n.421-40786T>A | |
12 | g.6034721C>A | CA478102965 | VWF | c.2652G>T (p.Leu884=) n.421-40787G>T | |
12 | g.6034721C= | CA2013880116 | VWF | c.2652G= (p.Leu884=) n.421-40787G= | |
12 | g.6034721C>G | CA478102964 | VWF | c.2652G>C (p.Leu884=) n.421-40787G>C | gnomAD v4 |
12 | g.6034721C>T | CA6402997 | VWF | c.2652G>A (p.Leu884=) n.421-40787G>A | dbSNP ExAC gnomAD v2 |
12 | g.6034722A= | CA2013880117 | VWF | c.2651T= (p.Leu884=) n.421-40788T= | |
12 | g.6034722A>C | CA6402998 | VWF | c.2651T>G (p.Leu884Arg) n.421-40788T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034722A>G | CA383520032 | VWF | c.2651T>C (p.Leu884Pro) n.421-40788T>C | gnomAD v4 |
12 | g.6034722A>T | CA383520033 | VWF | c.2651T>A (p.Leu884Gln) n.421-40788T>A | |
12 | g.6034723G>A | CA478102967 | VWF | c.2650C>T (p.Leu884=) n.421-40789C>T | |
12 | g.6034723G>C | CA383520034 | VWF | c.2650C>G (p.Leu884Val) n.421-40789C>G | |
12 | g.6034723G= | CA2013880118 | VWF | c.2650C= (p.Leu884=) n.421-40789C= | |
12 | g.6034723G>T | CA383520035 | VWF | c.2650C>A (p.Leu884Met) n.421-40789C>A | COSMIC |
12 | g.6034723_6034724insCAAA | CA915947877 | VWF | c.2649_2650insTTTG (p.Leu884PhefsTer19) n.421-40790_421-40789insTTTG | ClinVar dbSNP |
12 | g.6034724G>A | CA478102968 | VWF | c.2649C>T (p.Tyr883=) n.421-40790C>T | |
12 | g.6034724G>C | CA383520036 | VWF | c.2649C>G (p.Tyr883Ter) n.421-40790C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034724G= | CA2013880119 | VWF | c.2649C= (p.Tyr883=) n.421-40790C= | |
12 | g.6034724G>T | CA383520037 | VWF | c.2649C>A (p.Tyr883Ter) n.421-40790C>A | |
12 | g.6034725T>A | CA383520038 | VWF | c.2648A>T (p.Tyr883Phe) n.421-40791A>T | |
12 | g.6034725T>C | CA383520039 | VWF | c.2648A>G (p.Tyr883Cys) n.421-40791A>G | |
12 | g.6034725T>G | CA383520040 | VWF | c.2648A>C (p.Tyr883Ser) n.421-40791A>C | |
12 | g.6034726A>C | CA383520041 | VWF | c.2647T>G (p.Tyr883Asp) n.421-40792T>G | |
12 | g.6034726A>G | CA383520043 | VWF | c.2647T>C (p.Tyr883His) n.421-40792T>C | |
12 | g.6034726A>T | CA383520042 | VWF | c.2647T>A (p.Tyr883Asn) n.421-40792T>A | |
12 | g.6034727T>A | CA383520044 | VWF | c.2646A>T (p.Lys882Asn) n.421-40793A>T | |
12 | g.6034727T>C | CA478102972 | VWF | c.2646A>G (p.Lys882=) n.421-40793A>G | gnomAD v4 |
12 | g.6034727T>G | CA383520045 | VWF | c.2646A>C (p.Lys882Asn) n.421-40793A>C | |
12 | g.6034729dup | CA2739271829 | VWF | c.2646dup (p.Tyr883IlefsTer19) n.421-40793dup | ClinVar |
12 | g.6034728T>A | CA383520046 | VWF | c.2645A>T (p.Lys882Ile) n.421-40794A>T | |
12 | g.6034728T>C | CA383520047 | VWF | c.2645A>G (p.Lys882Arg) n.421-40794A>G | |
12 | g.6034728T>G | CA383520048 | VWF | c.2645A>C (p.Lys882Thr) n.421-40794A>C | |
12 | g.6034729T>A | CA383520049 | VWF | c.2644A>T (p.Lys882Ter) n.421-40795A>T | |
12 | g.6034729T>C | CA383520050 | VWF | c.2644A>G (p.Lys882Glu) n.421-40795A>G | gnomAD v4 |
12 | g.6034729T>G | CA383520051 | VWF | c.2644A>C (p.Lys882Gln) n.421-40795A>C | |
12 | g.6034730G>A | CA478102975 | VWF | c.2643C>T (p.Leu881=) n.421-40796C>T | gnomAD v4 |
12 | g.6034730G>C | CA478102976 | VWF | c.2643C>G (p.Leu881=) n.421-40796C>G | dbSNP gnomAD v2 |
12 | g.6034730G= | CA2013880120 | VWF | c.2643C= (p.Leu881=) n.421-40796C= | |
12 | g.6034730G>T | CA478102977 | VWF | c.2643C>A (p.Leu881=) n.421-40796C>A | |
12 | g.6034731A= | CA2013880122 | VWF | c.2642T= (p.Leu881=) n.421-40797T= | |
12 | g.6034731A>C | CA383520052 | VWF | c.2642T>G (p.Leu881Arg) n.421-40797T>G | |
12 | g.6034731A>G | CA6402999 | VWF | c.2642T>C (p.Leu881Pro) n.421-40797T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034731A>T | CA383520053 | VWF | c.2642T>A (p.Leu881His) n.421-40797T>A | |
12 | g.6034731_6034732delinsAG | CA2013880121 | VWF | c.2641_2642delinsCT (p.Leu881=) n.421-40798_421-40797delinsCT | |
12 | g.6034732del | CA228359 | VWF | c.2641del (p.Leu881SerfsTer28) n.421-40798del | ClinVar dbSNP |
12 | g.6034732G>A | CA383520054 | VWF | c.2641C>T (p.Leu881Phe) n.421-40798C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034732G>C | CA6403000 | VWF | c.2641C>G (p.Leu881Val) n.421-40798C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034732G= | CA2013880123 | VWF | c.2641C= (p.Leu881=) n.421-40798C= | |
12 | g.6034732G>T | CA383520055 | VWF | c.2641C>A (p.Leu881Ile) n.421-40798C>A | |
12 | g.6034733C>A | CA478102981 | VWF | c.2640G>T (p.Gly880=) n.421-40799G>T | |
12 | g.6034733C>G | CA478102982 | VWF | c.2640G>C (p.Gly880=) n.421-40799G>C | |
12 | g.6034733C>T | CA478102984 | VWF | c.2640G>A (p.Gly880=) n.421-40799G>A | |
12 | g.6034734C>A | CA383520056 | VWF | c.2639G>T (p.Gly880Val) n.421-40800G>T | |
12 | g.6034734C>G | CA383520057 | VWF | c.2639G>C (p.Gly880Ala) n.421-40800G>C | |
12 | g.6034734C>T | CA383520058 | VWF | c.2639G>A (p.Gly880Glu) n.421-40800G>A | |
12 | g.6034735C>A | CA383520059 | VWF | c.2638G>T (p.Gly880Trp) n.421-40801G>T | |
12 | g.6034735C= | CA2013880124 | VWF | c.2638G= (p.Gly880=) n.421-40801G= | |
12 | g.6034735C>G | CA383520060 | VWF | c.2638G>C (p.Gly880Arg) n.421-40801G>C | |
12 | g.6034735C>T | CA6403001 | VWF | c.2638G>A (p.Gly880Arg) n.421-40801G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034736G>A | CA232299275 | VWF | c.2637C>T (p.Asp879=) n.421-40802C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034736G>C | CA383520061 | VWF | c.2637C>G (p.Asp879Glu) n.421-40802C>G | |
12 | g.6034736G= | CA2013880125 | VWF | c.2637C= (p.Asp879=) n.421-40802C= | |
12 | g.6034736G>T | CA383520062 | VWF | c.2637C>A (p.Asp879Glu) n.421-40802C>A | |
12 | g.6034737T>A | CA383520063 | VWF | c.2636A>T (p.Asp879Val) n.421-40803A>T | |
12 | g.6034737T>C | CA383520064 | VWF | c.2636A>G (p.Asp879Gly) n.421-40803A>G | gnomAD v4 |
12 | g.6034737T>G | CA383520065 | VWF | c.2636A>C (p.Asp879Ala) n.421-40803A>C | |
12 | g.6034738C>A | CA383520067 | VWF | c.2635G>T (p.Asp879Tyr) n.421-40804G>T | gnomAD v4 |
12 | g.6034738C= | CA2013880126 | VWF | c.2635G= (p.Asp879=) n.421-40804G= | |
12 | g.6034738C>G | CA383520066 | VWF | c.2635G>C (p.Asp879His) n.421-40804G>C | |
12 | g.6034738C>T | CA228357 | VWF | c.2635G>A (p.Asp879Asn) n.421-40804G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034739G>A | CA6403002 | VWF | c.2634C>T (p.Phe878=) n.421-40805C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034739G>C | CA383520068 | VWF | c.2634C>G (p.Phe878Leu) n.421-40805C>G | gnomAD v4 |
12 | g.6034739G= | CA2013880127 | VWF | c.2634C= (p.Phe878=) n.421-40805C= | |
12 | g.6034739G>T | CA383520069 | VWF | c.2634C>A (p.Phe878Leu) n.421-40805C>A | |
12 | g.6034740A>C | CA383520070 | VWF | c.2633T>G (p.Phe878Cys) n.421-40806T>G | |
12 | g.6034740A>G | CA383520071 | VWF | c.2633T>C (p.Phe878Ser) n.421-40806T>C | |
12 | g.6034740A>T | CA383520072 | VWF | c.2633T>A (p.Phe878Tyr) n.421-40806T>A | |
12 | g.6034741A= | CA2013880128 | VWF | c.2632T= (p.Phe878=) n.421-40807T= | |
12 | g.6034741A>C | CA383520073 | VWF | c.2632T>G (p.Phe878Val) n.421-40807T>G | |
12 | g.6034741A>G | CA383520074 | VWF | c.2632T>C (p.Phe878Leu) n.421-40807T>C | |
12 | g.6034741A>T | CA6403003 | VWF | c.2632T>A (p.Phe878Ile) n.421-40807T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034742G>A | CA6403004 | VWF | c.2631C>T (p.Thr877=) n.421-40808C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034742G>C | CA478102990 | VWF | c.2631C>G (p.Thr877=) n.421-40808C>G | dbSNP |
12 | g.6034742G= | CA2013880129 | VWF | c.2631C= (p.Thr877=) n.421-40808C= | |
12 | g.6034742G>T | CA478102989 | VWF | c.2631C>A (p.Thr877=) n.421-40808C>A | |
12 | g.6034743G>A | CA383520077 | VWF | c.2630C>T (p.Thr877Ile) n.421-40809C>T | gnomAD v4 |
12 | g.6034743G>C | CA383520076 | VWF | c.2630C>G (p.Thr877Ser) n.421-40809C>G | |
12 | g.6034743G>T | CA383520075 | VWF | c.2630C>A (p.Thr877Asn) n.421-40809C>A | |
12 | g.6034744T>A | CA383520078 | VWF | c.2629A>T (p.Thr877Ser) n.421-40810A>T | |
12 | g.6034744T>C | CA383520080 | VWF | c.2629A>G (p.Thr877Ala) n.421-40810A>G | |
12 | g.6034744T>G | CA383520079 | VWF | c.2629A>C (p.Thr877Pro) n.421-40810A>C | |
12 | g.6034745G>A | CA478102991 | VWF | c.2628C>T (p.Leu876=) n.421-40811C>T | gnomAD v4 |
12 | g.6034745G>C | CA478102992 | VWF | c.2628C>G (p.Leu876=) n.421-40811C>G | |
12 | g.6034745G>T | CA478102993 | VWF | c.2628C>A (p.Leu876=) n.421-40811C>A | gnomAD v4 |
12 | g.6034746A= | CA2013880130 | VWF | c.2627T= (p.Leu876=) n.421-40812T= | |
12 | g.6034746A>C | CA383520081 | VWF | c.2627T>G (p.Leu876Arg) n.421-40812T>G | |
12 | g.6034746A>G | CA383520082 | VWF | c.2627T>C (p.Leu876Pro) n.421-40812T>C | |
12 | g.6034746A>T | CA383520083 | VWF | c.2627T>A (p.Leu876His) n.421-40812T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6034747G>A | CA6403005 | VWF | c.2626C>T (p.Leu876Phe) n.421-40813C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034747G>C | CA383520084 | VWF | c.2626C>G (p.Leu876Val) n.421-40813C>G | dbSNP gnomAD v4 |
12 | g.6034747G= | CA2013880131 | VWF | c.2626C= (p.Leu876=) n.421-40813C= | |
12 | g.6034747G>T | CA383520085 | VWF | c.2626C>A (p.Leu876Ile) n.421-40813C>A | |
12 | g.6034748G>A | CA478102994 | VWF | c.2625C>T (p.Tyr875=) n.421-40814C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6034748G>C | CA383520086 | VWF | c.2625C>G (p.Tyr875Ter) n.421-40814C>G | |
12 | g.6034748G= | CA2013880132 | VWF | c.2625C= (p.Tyr875=) n.421-40814C= | |
12 | g.6034748G>T | CA383520087 | VWF | c.2625C>A (p.Tyr875Ter) n.421-40814C>A | |
12 | g.6034749T>A | CA383520088 | VWF | c.2624A>T (p.Tyr875Phe) n.421-40815A>T | |
12 | g.6034749T>C | CA383520089 | VWF | c.2624A>G (p.Tyr875Cys) n.421-40815A>G | |
12 | g.6034749T>G | CA383520090 | VWF | c.2624A>C (p.Tyr875Ser) n.421-40815A>C | |
12 | g.6034750A>C | CA383520093 | VWF | c.2623T>G (p.Tyr875Asp) n.421-40816T>G | |
12 | g.6034750A>G | CA383520092 | VWF | c.2623T>C (p.Tyr875His) n.421-40816T>C | |
12 | g.6034750A>T | CA383520091 | VWF | c.2623T>A (p.Tyr875Asn) n.421-40816T>A | |
12 | g.6034751G>A | CA478102995 | VWF | c.2622C>T (p.His874=) n.421-40817C>T | |
12 | g.6034751G>C | CA383520094 | VWF | c.2622C>G (p.His874Gln) n.421-40817C>G | |
12 | g.6034751G>T | CA383520095 | VWF | c.2622C>A (p.His874Gln) n.421-40817C>A | gnomAD v4 |
12 | g.6034752T>A | CA383520096 | VWF | c.2621A>T (p.His874Leu) n.421-40818A>T | |
12 | g.6034752T>C | CA383520097 | VWF | c.2621A>G (p.His874Arg) n.421-40818A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034752T>G | CA383520098 | VWF | c.2621A>C (p.His874Pro) n.421-40818A>C | |
12 | g.6034752T= | CA2013880133 | VWF | c.2621A= (p.His874=) n.421-40818A= | |
12 | g.6034753G>A | CA383520099 | VWF | c.2620C>T (p.His874Tyr) n.421-40819C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034753G>C | CA383520100 | VWF | c.2620C>G (p.His874Asp) n.421-40819C>G | |
12 | g.6034753G= | CA2013880134 | VWF | c.2620C= (p.His874=) n.421-40819C= | |
12 | g.6034753G>T | CA383520101 | VWF | c.2620C>A (p.His874Asn) n.421-40819C>A | |
12 | g.6034754G>A | CA478102996 | VWF | c.2619C>T (p.Ala873=) n.421-40820C>T | |
12 | g.6034754G>C | CA478102998 | VWF | c.2619C>G (p.Ala873=) n.421-40820C>G | |
12 | g.6034754G>T | CA478102997 | VWF | c.2619C>A (p.Ala873=) n.421-40820C>A | |
12 | g.6034755G>A | CA383520102 | VWF | c.2618C>T (p.Ala873Val) n.421-40821C>T | ClinVar dbSNP |
12 | g.6034755G>C | CA383520103 | VWF | c.2618C>G (p.Ala873Gly) n.421-40821C>G | |
12 | g.6034755G= | CA2013880135 | VWF | c.2618C= (p.Ala873=) n.421-40821C= | |
12 | g.6034755G>T | CA383520104 | VWF | c.2618C>A (p.Ala873Asp) n.421-40821C>A | |
12 | g.6034756C>A | CA383520107 | VWF | c.2617G>T (p.Ala873Ser) n.421-40822G>T | |
12 | g.6034756C>G | CA383520106 | VWF | c.2617G>C (p.Ala873Pro) n.421-40822G>C | |
12 | g.6034756C>T | CA383520105 | VWF | c.2617G>A (p.Ala873Thr) n.421-40822G>A | gnomAD v4 |
12 | g.6034757C>A | CA383520108 | VWF | c.2616G>T (p.Met872Ile) n.421-40823G>T | |
12 | g.6034757C= | CA2013880136 | VWF | c.2616G= (p.Met872=) n.421-40823G= | |
12 | g.6034757C>G | CA383520109 | VWF | c.2616G>C (p.Met872Ile) n.421-40823G>C | |
12 | g.6034757C>T | CA6403006 | VWF | c.2616G>A (p.Met872Ile) n.421-40823G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034758A= | CA2013880137 | VWF | c.2615T= (p.Met872=) n.421-40824T= | |
12 | g.6034758A>C | CA383520110 | VWF | c.2615T>G (p.Met872Arg) n.421-40824T>G | |
12 | g.6034758A>G | CA383520111 | VWF | c.2615T>C (p.Met872Thr) n.421-40824T>C | dbSNP |
12 | g.6034758A>T | CA383520112 | VWF | c.2615T>A (p.Met872Lys) n.421-40824T>A | |
12 | g.6034759T>A | CA383520113 | VWF | c.2614A>T (p.Met872Leu) n.421-40825A>T | |
12 | g.6034759T>C | CA383520114 | VWF | c.2614A>G (p.Met872Val) n.421-40825A>G | |
12 | g.6034759T>G | CA383520115 | VWF | c.2614A>C (p.Met872Leu) n.421-40825A>C | |
12 | g.6034760G>A | CA478102999 | VWF | c.2613C>T (p.Gly871=) n.421-40826C>T | |
12 | g.6034760G>C | CA478103000 | VWF | c.2613C>G (p.Gly871=) n.421-40826C>G | |
12 | g.6034760G>T | CA478103001 | VWF | c.2613C>A (p.Gly871=) n.421-40826C>A | |
12 | g.6034761C>A | CA383520116 | VWF | c.2612G>T (p.Gly871Val) n.421-40827G>T | |
12 | g.6034761C>G | CA383520117 | VWF | c.2612G>C (p.Gly871Ala) n.421-40827G>C | |
12 | g.6034761C>T | CA383520118 | VWF | c.2612G>A (p.Gly871Asp) n.421-40827G>A | |
12 | g.6034762C>A | CA383520120 | VWF | c.2611G>T (p.Gly871Cys) n.421-40828G>T | |
12 | g.6034762C= | CA2013880138 | VWF | c.2611G= (p.Gly871=) n.421-40828G= | |
12 | g.6034762C>G | CA383520119 | VWF | c.2611G>C (p.Gly871Arg) n.421-40828G>C | |
12 | g.6034762C>T | CA6403007 | VWF | c.2611G>A (p.Gly871Ser) n.421-40828G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034763G>A | CA6403008 | VWF | c.2610C>T (p.Ile870=) n.421-40829C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6034763G>C | CA383520121 | VWF | c.2610C>G (p.Ile870Met) n.421-40829C>G | |
12 | g.6034763G= | CA2013880139 | VWF | c.2610C= (p.Ile870=) n.421-40829C= | |
12 | g.6034763G>T | CA478103002 | VWF | c.2610C>A (p.Ile870=) n.421-40829C>A | |
12 | g.6034764A>C | CA383520122 | VWF | c.2609T>G (p.Ile870Ser) n.421-40830T>G | |
12 | g.6034764A>G | CA383520123 | VWF | c.2609T>C (p.Ile870Thr) n.421-40830T>C | |
12 | g.6034764A>T | CA383520124 | VWF | c.2609T>A (p.Ile870Asn) n.421-40830T>A | |
12 | g.6034765T>A | CA383520125 | VWF | c.2608A>T (p.Ile870Phe) n.421-40831A>T | |
12 | g.6034765T>C | CA383520126 | VWF | c.2608A>G (p.Ile870Val) n.421-40831A>G | gnomAD v4 |
12 | g.6034765T>G | CA383520127 | VWF | c.2608A>C (p.Ile870Leu) n.421-40831A>C | |
12 | g.6034765_6034766del | CA2794398166 | VWF | c.2607_2608del (p.Ile870ArgfsTer?) n.421-40832_421-40831del | |
12 | g.6034766C>A | CA478103003 | VWF | c.2607G>T (p.Thr869=) n.421-40832G>T | |
12 | g.6034766C= | CA2013880140 | VWF | c.2607G= (p.Thr869=) n.421-40832G= | |
12 | g.6034766C>G | CA478103004 | VWF | c.2607G>C (p.Thr869=) n.421-40832G>C | dbSNP COSMIC |
12 | g.6034766C>T | CA6403009 | VWF | c.2607G>A (p.Thr869=) n.421-40832G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034767G>A | CA383520128 | VWF | c.2606C>T (p.Thr869Met) n.421-40833C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034767G>C | CA383520129 | VWF | c.2606C>G (p.Thr869Arg) n.421-40833C>G | |
12 | g.6034767G= | CA2013880141 | VWF | c.2606C= (p.Thr869=) n.421-40833C= | |
12 | g.6034767G>T | CA383520130 | VWF | c.2606C>A (p.Thr869Lys) n.421-40833C>A | |
12 | g.6034768T>A | CA383520132 | VWF | c.2605A>T (p.Thr869Ser) n.421-40834A>T | |
12 | g.6034768T>C | CA6403010 | VWF | c.2605A>G (p.Thr869Ala) n.421-40834A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034768T>G | CA383520131 | VWF | c.2605A>C (p.Thr869Pro) n.421-40834A>C | |
12 | g.6034768T= | CA2013880142 | VWF | c.2605A= (p.Thr869=) n.421-40834A= | |
12 | g.6034769G>A | CA478103005 | VWF | c.2604C>T (p.Ser868=) n.421-40835C>T | |
12 | g.6034769G>C | CA478103007 | VWF | c.2604C>G (p.Ser868=) n.421-40835C>G | |
12 | g.6034769G>T | CA478103006 | VWF | c.2604C>A (p.Ser868=) n.421-40835C>A | |
12 | g.6034769_6034770insCA | CA2794398167 | VWF | c.2603_2604insTG (p.Thr869AlafsTer?) n.421-40836_421-40835insTG | |
12 | g.6034770G>A | CA6403011 | VWF | c.2603C>T (p.Ser868Phe) n.421-40836C>T | dbSNP ExAC gnomAD v2 |
12 | g.6034770G>C | CA232299276 | VWF | c.2603C>G (p.Ser868Cys) n.421-40836C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034770G= | CA2013880143 | VWF | c.2603C= (p.Ser868=) n.421-40836C= | |
12 | g.6034770G>T | CA383520133 | VWF | c.2603C>A (p.Ser868Tyr) n.421-40836C>A | |
12 | g.6034771A>C | CA383520134 | VWF | c.2602T>G (p.Ser868Ala) n.421-40837T>G | |
12 | g.6034771A>G | CA383520135 | VWF | c.2602T>C (p.Ser868Pro) n.421-40837T>C | |
12 | g.6034771A>T | CA383520136 | VWF | c.2602T>A (p.Ser868Thr) n.421-40837T>A | |
12 | g.6034772G>A | CA478103008 | VWF | c.2601C>T (p.Cys867=) n.421-40838C>T | |
12 | g.6034772G>C | CA383520137 | VWF | c.2601C>G (p.Cys867Trp) n.421-40838C>G | |
12 | g.6034772G>T | CA383520138 | VWF | c.2601C>A (p.Cys867Ter) n.421-40838C>A | |
12 | g.6034773C>A | CA383520139 | VWF | c.2600G>T (p.Cys867Phe) n.421-40839G>T | |
12 | g.6034773C>G | CA383520140 | VWF | c.2600G>C (p.Cys867Ser) n.421-40839G>C | |
12 | g.6034773C>T | CA383520141 | VWF | c.2600G>A (p.Cys867Tyr) n.421-40839G>A | |
12 | g.6034774A>C | CA383520142 | VWF | c.2599T>G (p.Cys867Gly) n.421-40840T>G | |
12 | g.6034774A>G | CA383520143 | VWF | c.2599T>C (p.Cys867Arg) n.421-40840T>C | |
12 | g.6034774A>T | CA383520144 | VWF | c.2599T>A (p.Cys867Ser) n.421-40840T>A | |
12 | g.6034775C>A | CA478103009 | VWF | c.2598G>T (p.Thr866=) n.421-40841G>T | dbSNP gnomAD v4 |
12 | g.6034775C= | CA2013880144 | VWF | c.2598G= (p.Thr866=) n.421-40841G= | |
12 | g.6034775C>G | CA478103010 | VWF | c.2598G>C (p.Thr866=) n.421-40841G>C | gnomAD v4 |
12 | g.6034775C>T | CA6403012 | VWF | c.2598G>A (p.Thr866=) n.421-40841G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6034776G>A | CA383520145 | VWF | c.2597C>T (p.Thr866Met) n.421-40842C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034776G>C | CA383520147 | VWF | c.2597C>G (p.Thr866Arg) n.421-40842C>G | |
12 | g.6034776G= | CA2013880145 | VWF | c.2597C= (p.Thr866=) n.421-40842C= | |
12 | g.6034776G>T | CA383520146 | VWF | c.2597C>A (p.Thr866Lys) n.421-40842C>A | |
12 | g.6034777T>A | CA383520148 | VWF | c.2596A>T (p.Thr866Ser) n.421-40843A>T | |
12 | g.6034777T>C | CA383520149 | VWF | c.2596A>G (p.Thr866Ala) n.421-40843A>G | dbSNP gnomAD v4 |
12 | g.6034777T>G | CA383520150 | VWF | c.2596A>C (p.Thr866Pro) n.421-40843A>C | |
12 | g.6034777T= | CA2013880146 | VWF | c.2596A= (p.Thr866=) n.421-40843A= | |
12 | g.6034778G>A | CA6403013 | VWF | c.2595C>T (p.Ala865=) n.421-40844C>T | dbSNP ExAC gnomAD v4 COSMIC |
12 | g.6034778G>C | CA478103011 | VWF | c.2595C>G (p.Ala865=) n.421-40844C>G | |
12 | g.6034778G= | CA2013880147 | VWF | c.2595C= (p.Ala865=) n.421-40844C= | |
12 | g.6034778G>T | CA478103012 | VWF | c.2595C>A (p.Ala865=) n.421-40844C>A | |
12 | g.6034779G>A | CA383520151 | VWF | c.2594C>T (p.Ala865Val) n.421-40845C>T | gnomAD v4 |
12 | g.6034779G>C | CA383520152 | VWF | c.2594C>G (p.Ala865Gly) n.421-40845C>G | gnomAD v4 |
12 | g.6034779G>T | CA383520153 | VWF | c.2594C>A (p.Ala865Asp) n.421-40845C>A | |
12 | g.6034780C>A | CA383520154 | VWF | c.2593G>T (p.Ala865Ser) n.421-40846G>T | |
12 | g.6034780C>G | CA383520155 | VWF | c.2593G>C (p.Ala865Pro) n.421-40846G>C | |
12 | g.6034780C>T | CA383520156 | VWF | c.2593G>A (p.Ala865Thr) n.421-40846G>A | |
12 | g.6034781A= | CA2013880148 | VWF | c.2592T= (p.Asp864=) n.421-40847T= | |
12 | g.6034781A>C | CA383520158 | VWF | c.2592T>G (p.Asp864Glu) n.421-40847T>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034781A>G | CA6403014 | VWF | c.2592T>C (p.Asp864=) n.421-40847T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034781A>T | CA383520157 | VWF | c.2592T>A (p.Asp864Glu) n.421-40847T>A | |
12 | g.6034782T>A | CA383520159 | VWF | c.2591A>T (p.Asp864Val) n.421-40848A>T | |
12 | g.6034782T>C | CA6403015 | VWF | c.2591A>G (p.Asp864Gly) n.421-40848A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034782T>G | CA383520160 | VWF | c.2591A>C (p.Asp864Ala) n.421-40848A>C | |
12 | g.6034782T= | CA2013880149 | VWF | c.2591A= (p.Asp864=) n.421-40848A= | |
12 | g.6034783C>A | CA383520161 | VWF | c.2590G>T (p.Asp864Tyr) n.421-40849G>T | |
12 | g.6034783C>G | CA383520162 | VWF | c.2590G>C (p.Asp864His) n.421-40849G>C | |
12 | g.6034783C>T | CA383520163 | VWF | c.2590G>A (p.Asp864Asn) n.421-40849G>A | |
12 | g.6034784A>C | CA383520164 | VWF | c.2589T>G (p.Cys863Trp) n.421-40850T>G | |
12 | g.6034784A>G | CA478103013 | VWF | c.2589T>C (p.Cys863=) n.421-40850T>C | gnomAD v4 |
12 | g.6034784A>T | CA383520165 | VWF | c.2589T>A (p.Cys863Ter) n.421-40850T>A | |
12 | g.6034785C>A | CA383520166 | VWF | c.2588G>T (p.Cys863Phe) n.421-40851G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034785C= | CA2013880150 | VWF | c.2588G= (p.Cys863=) n.421-40851G= | |
12 | g.6034785C>G | CA383520167 | VWF | c.2588G>C (p.Cys863Ser) n.421-40851G>C | |
12 | g.6034785C>T | CA383520168 | VWF | c.2588G>A (p.Cys863Tyr) n.421-40851G>A | |
12 | g.6034786A>C | CA383520170 | VWF | c.2587T>G (p.Cys863Gly) n.421-40852T>G | |
12 | g.6034786A>G | CA383520171 | VWF | c.2587T>C (p.Cys863Arg) n.421-40852T>C | gnomAD v4 |
12 | g.6034786A>T | CA383520169 | VWF | c.2587T>A (p.Cys863Ser) n.421-40852T>A | |
12 | g.6034787C>A | CA6403016 | VWF | c.2586G>T (p.Val862=) n.421-40853G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034787C= | CA2013880151 | VWF | c.2586G= (p.Val862=) n.421-40853G= | |
12 | g.6034787C>G | CA478103014 | VWF | c.2586G>C (p.Val862=) n.421-40853G>C | gnomAD v4 |
12 | g.6034787C>T | CA6403017 | VWF | c.2586G>A (p.Val862=) n.421-40853G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034788A>C | CA383520172 | VWF | c.2585T>G (p.Val862Gly) n.421-40854T>G | |
12 | g.6034788A>G | CA383520173 | VWF | c.2585T>C (p.Val862Ala) n.421-40854T>C | |
12 | g.6034788A>T | CA383520174 | VWF | c.2585T>A (p.Val862Glu) n.421-40854T>A | |
12 | g.6034789C>A | CA383520177 | VWF | c.2584G>T (p.Val862Leu) n.421-40855G>T | |
12 | g.6034789C= | CA2013880152 | VWF | c.2584G= (p.Val862=) n.421-40855G= | |
12 | g.6034789C>G | CA383520175 | VWF | c.2584G>C (p.Val862Leu) n.421-40855G>C | |
12 | g.6034789C>T | CA383520176 | VWF | c.2584G>A (p.Val862Met) n.421-40855G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6034791_6034801del | CA2695215957 | VWF | c.2574_2584del (p.Thr859ValfsTer2) n.421-40865_421-40855del | |
12 | g.6034790A= | CA2013880154 | VWF | c.2583T= (p.His861=) n.421-40856T= | |
12 | g.6034790A>C | CA383520178 | VWF | c.2583T>G (p.His861Gln) n.421-40856T>G | |
12 | g.6034790A>G | CA6403018 | VWF | c.2583T>C (p.His861=) n.421-40856T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034790A>T | CA383520179 | VWF | c.2583T>A (p.His861Gln) n.421-40856T>A | |
12 | g.6034790_6034791del | CA2617231249 | VWF | c.2582_2583del (p.His861ArgfsTer3) n.421-40857_421-40856del | gnomAD v4 |
12 | g.6034790_6034791delinsAT | CA2013880153 | VWF | c.2582_2583delinsAT (p.His861=) n.421-40857_421-40856delinsAT | |
12 | g.6034791del | CA603102393 | VWF | c.2582del (p.His861LeufsTer?) n.421-40857del | dbSNP gnomAD v2 |
12 | g.6034791T>A | CA383520180 | VWF | c.2582A>T (p.His861Leu) n.421-40857A>T | |
12 | g.6034791T>C | CA232299277 | VWF | c.2582A>G (p.His861Arg) n.421-40857A>G | dbSNP gnomAD v4 |
12 | g.6034791T>G | CA383520181 | VWF | c.2582A>C (p.His861Pro) n.421-40857A>C | |
12 | g.6034791T= | CA2013880155 | VWF | c.2582A= (p.His861=) n.421-40857A= | |
12 | g.6034792G>A | CA383520183 | VWF | c.2581C>T (p.His861Tyr) n.421-40858C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.6034792G>C | CA383520184 | VWF | c.2581C>G (p.His861Asp) n.421-40858C>G | |
12 | g.6034792G= | CA2013880156 | VWF | c.2581C= (p.His861=) n.421-40858C= | |
12 | g.6034792G>T | CA383520182 | VWF | c.2581C>A (p.His861Asn) n.421-40858C>A | |
12 | g.6034793G>A | CA478103015 | VWF | c.2580C>T (p.Asp860=) n.421-40859C>T | |
12 | g.6034793G>C | CA383520185 | VWF | c.2580C>G (p.Asp860Glu) n.421-40859C>G | |
12 | g.6034793G>T | CA383520186 | VWF | c.2580C>A (p.Asp860Glu) n.421-40859C>A | |
12 | g.6034794T>A | CA383520187 | VWF | c.2579A>T (p.Asp860Val) n.421-40860A>T | |
12 | g.6034794T>C | CA383520188 | VWF | c.2579A>G (p.Asp860Gly) n.421-40860A>G | gnomAD v4 |
12 | g.6034794T>G | CA383520189 | VWF | c.2579A>C (p.Asp860Ala) n.421-40860A>C | gnomAD v4 |
12 | g.6034795C>A | CA383520190 | VWF | c.2578G>T (p.Asp860Tyr) n.421-40861G>T | |
12 | g.6034795C>G | CA383520191 | VWF | c.2578G>C (p.Asp860His) n.421-40861G>C | |
12 | g.6034795C>T | CA383520192 | VWF | c.2578G>A (p.Asp860Asn) n.421-40861G>A | |
12 | g.6034796T>A | CA478103016 | VWF | c.2577A>T (p.Thr859=) n.421-40862A>T | |
12 | g.6034796T>C | CA478103017 | VWF | c.2577A>G (p.Thr859=) n.421-40862A>G | |
12 | g.6034796T>G | CA478103018 | VWF | c.2577A>C (p.Thr859=) n.421-40862A>C | |
12 | g.6034797G>A | CA383520193 | VWF | c.2576C>T (p.Thr859Ile) n.421-40863C>T | |
12 | g.6034797G>C | CA383520194 | VWF | c.2576C>G (p.Thr859Arg) n.421-40863C>G | |
12 | g.6034797G>T | CA383520195 | VWF | c.2576C>A (p.Thr859Lys) n.421-40863C>A | |
12 | g.6034798T>A | CA383520196 | VWF | c.2575A>T (p.Thr859Ser) n.421-40864A>T | |
12 | g.6034798T>C | CA6403019 | VWF | c.2575A>G (p.Thr859Ala) n.421-40864A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034798T>G | CA383520197 | VWF | c.2575A>C (p.Thr859Pro) n.421-40864A>C | |
12 | g.6034798T= | CA2013880157 | VWF | c.2575A= (p.Thr859=) n.421-40864A= | |
12 | g.6034799G>A | CA478103019 | VWF | c.2574C>T (p.Cys858=) n.421-40865C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6034799G>C | CA232299278 | VWF | c.2574C>G (p.Cys858Trp) n.421-40865C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034799G= | CA2013880158 | VWF | c.2574C= (p.Cys858=) n.421-40865C= | |
12 | g.6034799G>T | CA383520198 | VWF | c.2574C>A (p.Cys858Ter) n.421-40865C>A | |
12 | g.6034800C>A | CA228353 | VWF | c.2573G>T (p.Cys858Phe) n.421-40866G>T | ClinVar dbSNP |
12 | g.6034800C= | CA2013880159 | VWF | c.2573G= (p.Cys858=) n.421-40866G= | |
12 | g.6034800C>G | CA383520199 | VWF | c.2573G>C (p.Cys858Ser) n.421-40866G>C | |
12 | g.6034800C>T | CA383520200 | VWF | c.2573G>A (p.Cys858Tyr) n.421-40866G>A | |
12 | g.6034801A= | CA2013880160 | VWF | c.2572T= (p.Cys858=) n.421-40867T= | |
12 | g.6034801A>C | CA383520201 | VWF | c.2572T>G (p.Cys858Gly) n.421-40867T>G | |
12 | g.6034801A>G | CA383520202 | VWF | c.2572T>C (p.Cys858Arg) n.421-40867T>C | |
12 | g.6034801A>T | CA383520203 | VWF | c.2572T>A (p.Cys858Ser) n.421-40867T>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6034802G>A | CA478103020 | VWF | c.2571C>T (p.Asn857=) n.421-40868C>T | |
12 | g.6034802G>C | CA383520205 | VWF | c.2571C>G (p.Asn857Lys) n.421-40868C>G | |
12 | g.6034802G>T | CA383520204 | VWF | c.2571C>A (p.Asn857Lys) n.421-40868C>A | |
12 | g.6034803T>A | CA383520206 | VWF | c.2570A>T (p.Asn857Ile) n.421-40869A>T | |
12 | g.6034803T>C | CA6403020 | VWF | c.2570A>G (p.Asn857Ser) n.421-40869A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6034803T>G | CA383520207 | VWF | c.2570A>C (p.Asn857Thr) n.421-40869A>C | |
12 | g.6034803T= | CA2013880161 | VWF | c.2570A= (p.Asn857=) n.421-40869A= | |
12 | g.6034804T>A | CA383520208 | VWF | c.2569A>T (p.Asn857Tyr) n.421-40870A>T | |
12 | g.6034804T>C | CA383520209 | VWF | c.2569A>G (p.Asn857Asp) n.421-40870A>G | |
12 | g.6034804T>G | CA383520210 | VWF | c.2569A>C (p.Asn857His) n.421-40870A>C | |
12 | g.6034805C>A | CA383520211 | VWF | c.2568G>T (p.Trp856Cys) n.421-40871G>T | gnomAD v4 |
12 | g.6034805C= | CA2013880162 | VWF | c.2568G= (p.Trp856=) n.421-40871G= | |
12 | g.6034805C>G | CA6403021 | VWF | c.2568G>C (p.Trp856Cys) n.421-40871G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6034805C>T | CA383520212 | VWF | c.2568G>A (p.Trp856Ter) n.421-40871G>A | |
12 | g.6034806C>A | CA383520213 | VWF | c.2567G>T (p.Trp856Leu) n.421-40872G>T | |
12 | g.6034806C>G | CA383520214 | VWF | c.2567G>C (p.Trp856Ser) n.421-40872G>C | |
12 | g.6034806C>T | CA383520215 | VWF | c.2567G>A (p.Trp856Ter) n.421-40872G>A | |
12 | g.6034807A>C | CA383520216 | VWF | c.2566T>G (p.Trp856Gly) n.421-40873T>G | |
12 | g.6034807A>G | CA383520217 | VWF | c.2566T>C (p.Trp856Arg) n.421-40873T>C | |
12 | g.6034807A>T | CA383520218 | VWF | c.2566T>A (p.Trp856Arg) n.421-40873T>A | |
12 | g.6034808C>A | CA383520220 | VWF | c.2565G>T (p.Lys855Asn) n.421-40874G>T | gnomAD v4 |
12 | g.6034808C>G | CA383520219 | VWF | c.2565G>C (p.Lys855Asn) n.421-40874G>C | |
12 | g.6034808C>T | CA478103021 | VWF | c.2565G>A (p.Lys855=) n.421-40874G>A | dbSNP |
12 | g.6034809T>A | CA383520221 | VWF | c.2564A>T (p.Lys855Met) n.421-40875A>T | |
12 | g.6034809T>C | CA383520222 | VWF | c.2564A>G (p.Lys855Arg) n.421-40875A>G | |
12 | g.6034809T>G | CA383520223 | VWF | c.2564A>C (p.Lys855Thr) n.421-40875A>C | |
12 | g.6034810T>A | CA383520224 | VWF | c.2563A>T (p.Lys855Ter) n.421-40876A>T | |
12 | g.6034810T>C | CA383520225 | VWF | c.2563A>G (p.Lys855Glu) n.421-40876A>G | |
12 | g.6034810T>G | CA383520226 | VWF | c.2563A>C (p.Lys855Gln) n.421-40876A>C | |
12 | g.6034811C>A | CA478103022 | VWF | c.2562G>T (p.Arg854=) n.421-40877G>T | dbSNP gnomAD v2 |
12 | g.6034811C= | CA2013880163 | VWF | c.2562G= (p.Arg854=) n.421-40877G= | |
12 | g.6034811C>G | CA478103023 | VWF | c.2562G>C (p.Arg854=) n.421-40877G>C | |
12 | g.6034811C>T | CA478103024 | VWF | c.2562G>A (p.Arg854=) n.421-40877G>A | |
12 | g.6034812C>A | CA383520227 | VWF | c.2561G>T (p.Arg854Leu) n.421-40878G>T | |
12 | g.6034812C= | CA2013880164 | VWF | c.2561G= (p.Arg854=) n.421-40878G= | |
12 | g.6034812C>G | CA383520228 | VWF | c.2561G>C (p.Arg854Pro) n.421-40878G>C | |
12 | g.6034812C>T | CA114139 | VWF | c.2561G>A (p.Arg854Gln) n.421-40878G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |