Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6031393G>A | CA2013876601 | VWF | c.2820+51C>T (n.2820+51C>T) n.421-37459C>T | dbSNP gnomAD v4 |
12 | g.6031393G>C | CA2617231080 | VWF | c.2820+51C>G (n.2820+51C>G) n.421-37459C>G | gnomAD v4 |
12 | g.6031393G= | CA2013876600 | VWF | c.2820+51C= (n.2820+51C=) n.421-37459C= | |
12 | g.6031395G>A | CA690489354 | VWF | c.2820+49C>T (n.2820+49C>T) n.421-37461C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031395G= | CA2013876603 | VWF | c.2820+49C= (n.2820+49C=) n.421-37461C= | |
12 | g.6031396G>A | CA690489357 | VWF | c.2820+48C>T (n.2820+48C>T) n.421-37462C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031396G= | CA2013876604 | VWF | c.2820+48C= (n.2820+48C=) n.421-37462C= | |
12 | g.6031398A= | CA2013876607 | VWF | c.2820+46T= (n.2820+46T=) n.421-37464T= | |
12 | g.6031398A>C | CA232298860 | VWF | c.2820+46T>G (n.2820+46T>G) n.421-37464T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031399G>C | CA2617231081 | VWF | c.2820+45C>G (n.2820+45C>G) n.421-37465C>G | gnomAD v4 |
12 | g.6031400A>T | CA2794398052 | VWF | c.2820+44T>A (n.2820+44T>A) n.421-37466T>A | |
12 | g.6031402G>A | CA603101874 | VWF | c.2820+42C>T (n.2820+42C>T) n.421-37468C>T | dbSNP gnomAD v2 |
12 | g.6031402G= | CA2013876608 | VWF | c.2820+42C= (n.2820+42C=) n.421-37468C= | |
12 | g.6031403C>A | CA2575054021 | VWF | c.2820+41G>T (n.2820+41G>T) n.421-37469G>T | |
12 | g.6031403C>G | CA2617231082 | VWF | c.2820+41G>C (n.2820+41G>C) n.421-37469G>C | gnomAD v4 |
12 | g.6031404A= | CA2013876610 | VWF | c.2820+40T= (n.2820+40T=) n.421-37470T= | |
12 | g.6031404A>G | CA6402937 | VWF | c.2820+40T>C (n.2820+40T>C) n.421-37470T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031405C= | CA2013876611 | VWF | c.2820+39G= (n.2820+39G=) n.421-37471G= | |
12 | g.6031405C>T | CA232298861 | VWF | c.2820+39G>A (n.2820+39G>A) n.421-37471G>A | dbSNP |
12 | g.6031408dup | CA603101875 | VWF | c.2820+38dup (n.2820+38dup) n.421-37472dup | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031410C= | CA2013876614 | VWF | c.2820+34G= (n.2820+34G=) n.421-37476G= | |
12 | g.6031410C>T | CA6402938 | VWF | c.2820+34G>A (n.2820+34G>A) n.421-37476G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031411G>A | CA6402939 | VWF | c.2820+33C>T (n.2820+33C>T) n.421-37477C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031411G>C | CA2617231083 | VWF | c.2820+33C>G (n.2820+33C>G) n.421-37477C>G | gnomAD v4 |
12 | g.6031411G= | CA2013876616 | VWF | c.2820+33C= (n.2820+33C=) n.421-37477C= | |
12 | g.6031411G>T | CA6402940 | VWF | c.2820+33C>A (n.2820+33C>A) n.421-37477C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031412G>C | CA6402941 | VWF | c.2820+32C>G (n.2820+32C>G) n.421-37478C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031412G= | CA2013876617 | VWF | c.2820+32C= (n.2820+32C=) n.421-37478C= | |
12 | g.6031413G>C | CA2527223810 | VWF | c.2820+31C>G (n.2820+31C>G) n.421-37479C>G | |
12 | g.6031413G= | CA2013876619 | VWF | c.2820+31C= (n.2820+31C=) n.421-37479C= | |
12 | g.6031413G>T | CA2013876620 | VWF | c.2820+31C>A (n.2820+31C>A) n.421-37479C>A | dbSNP |
12 | g.6031414_6031415delinsAC | CA2013876621 | VWF | c.2820+29_2820+30delinsGT (n.2820+29_2820+30delinsGT) n.421-37481_421-37480delinsGT | |
12 | g.6031415del | CA944314145 | VWF | c.2820+29del (n.2820+29del) n.421-37481del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031415C>A | CA6402942 | VWF | c.2820+29G>T (n.2820+29G>T) n.421-37481G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031415C= | CA2013876622 | VWF | c.2820+29G= (n.2820+29G=) n.421-37481G= | |
12 | g.6031416A= | CA2013876624 | VWF | c.2820+28T= (n.2820+28T=) n.421-37482T= | |
12 | g.6031416A>C | CA2013876625 | VWF | c.2820+28T>G (n.2820+28T>G) n.421-37482T>G | dbSNP |
12 | g.6031416A>G | CA2013876626 | VWF | c.2820+28T>C (n.2820+28T>C) n.421-37482T>C | dbSNP |
12 | g.6031417T>A | CA6402943 | VWF | c.2820+27A>T (n.2820+27A>T) n.421-37483A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031417T= | CA2013876627 | VWF | c.2820+27A= (n.2820+27A=) n.421-37483A= | |
12 | g.6031419A= | CA2013876629 | VWF | c.2820+25T= (n.2820+25T=) n.421-37485T= | |
12 | g.6031419A>G | CA232298862 | VWF | c.2820+25T>C (n.2820+25T>C) n.421-37485T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031420G>A | CA603101876 | VWF | c.2820+24C>T (n.2820+24C>T) n.421-37486C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031420G>C | CA2617231084 | VWF | c.2820+24C>G (n.2820+24C>G) n.421-37486C>G | gnomAD v4 |
12 | g.6031420G= | CA2013876630 | VWF | c.2820+24C= (n.2820+24C=) n.421-37486C= | |
12 | g.6031420G>T | CA2794398053 | VWF | c.2820+24C>A (n.2820+24C>A) n.421-37486C>A | |
12 | g.6031421G>A | CA603101877 | VWF | c.2820+23C>T (n.2820+23C>T) n.421-37487C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031421G>C | CA603101878 | VWF | c.2820+23C>G (n.2820+23C>G) n.421-37487C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031421G= | CA2013876632 | VWF | c.2820+23C= (n.2820+23C=) n.421-37487C= | |
12 | g.6031423_6031425del | CA2617231085 | VWF | c.2820+21_2820+23del (n.2820+21_2820+23del) n.421-37489_421-37487del | gnomAD v4 |
12 | g.6031422G>A | CA2013876635 | VWF | c.2820+22C>T (n.2820+22C>T) n.421-37488C>T | dbSNP |
12 | g.6031422G= | CA2013876633 | VWF | c.2820+22C= (n.2820+22C=) n.421-37488C= | |
12 | g.6031422G>T | CA603101879 | VWF | c.2820+22C>A (n.2820+22C>A) n.421-37488C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031425G>A | CA6402944 | VWF | c.2820+19C>T (n.2820+19C>T) n.421-37491C>T | dbSNP ExAC gnomAD v2 |
12 | g.6031425G= | CA2013876636 | VWF | c.2820+19C= (n.2820+19C=) n.421-37491C= | |
12 | g.6031427G>A | CA603101880 | VWF | c.2820+17C>T (n.2820+17C>T) n.421-37493C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031427G>C | CA6402945 | VWF | c.2820+17C>G (n.2820+17C>G) n.421-37493C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031427G= | CA2013876638 | VWF | c.2820+17C= (n.2820+17C=) n.421-37493C= | |
12 | g.6031429T>A | CA2617231086 | VWF | c.2820+15A>T (n.2820+15A>T) n.421-37495A>T | gnomAD v4 |
12 | g.6031430G>A | CA2617231087 | VWF | c.2820+14C>T (n.2820+14C>T) n.421-37496C>T | gnomAD v4 |
12 | g.6031431A>C | CA2617231088 | VWF | c.2820+13T>G (n.2820+13T>G) n.421-37497T>G | gnomAD v4 |
12 | g.6031432G>T | CA2617231089 | VWF | c.2820+12C>A (n.2820+12C>A) n.421-37498C>A | gnomAD v4 |
12 | g.6031433G>C | CA6402946 | VWF | c.2820+11C>G (n.2820+11C>G) n.421-37499C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031433G= | CA2013876640 | VWF | c.2820+11C= (n.2820+11C=) n.421-37499C= | |
12 | g.6031434C>T | CA2617231090 | VWF | c.2820+10G>A (n.2820+10G>A) n.421-37500G>A | gnomAD v4 |
12 | g.6031436G>A | CA2617231091 | VWF | c.2820+8C>T (n.2820+8C>T) n.421-37502C>T | gnomAD v4 |
12 | g.6031438A= | CA2013876642 | VWF | c.2820+6T= (n.2820+6T=) n.421-37504T= | |
12 | g.6031438A>G | CA690489395 | VWF | c.2820+6T>C (n.2820+6T>C) n.421-37504T>C | dbSNP gnomAD v4 |
12 | g.6031439C= | CA2013876643 | VWF | c.2820+5G= (n.2820+5G=) n.421-37505G= | |
12 | g.6031439C>G | CA478102638 | VWF | c.2820+5G>C (n.2820+5G>C) n.421-37505G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031439C>T | CA6402947 | VWF | c.2820+5G>A (n.2820+5G>A) n.421-37505G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031440T>C | CA6402948 | VWF | c.2820+4A>G (n.2820+4A>G) n.421-37506A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031440T= | CA2013876645 | VWF | c.2820+4A= (n.2820+4A=) n.421-37506A= | |
12 | g.6031441dup | CA2617231092 | VWF | c.2820+4dup (n.2820+4dup) n.421-37506dup | gnomAD v4 |
12 | g.6031441T>C | CA603101881 | VWF | c.2820+3A>G (n.2820+3A>G) n.421-37507A>G | dbSNP gnomAD v2 |
12 | g.6031441T= | CA2013876646 | VWF | c.2820+3A= (n.2820+3A=) n.421-37507A= | |
12 | g.6031442A= | CA2013876649 | VWF | c.2820+2T= (n.2820+2T=) n.421-37508T= | |
12 | g.6031442A>C | CA6402949 | VWF | c.2820+2T>G (n.2820+2T>G) n.421-37508T>G | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.6031442A>G | CA383517493 | VWF | c.2820+2T>C (n.2820+2T>C) n.421-37508T>C | |
12 | g.6031442A>T | CA383517495 | VWF | c.2820+2T>A (n.2820+2T>A) n.421-37508T>A | |
12 | g.6031443C>A | CA383517499 | VWF | c.2820+1G>T (n.2820+1G>T) n.421-37509G>T | |
12 | g.6031443C= | CA2013876652 | VWF | c.2820+1G= (n.2820+1G=) n.421-37509G= | |
12 | g.6031443C>G | CA228371 | VWF | c.2820+1G>C (n.2820+1G>C) n.421-37509G>C | ClinVar dbSNP |
12 | g.6031443C>T | CA228370 | VWF | c.2820+1G>A (n.2820+1G>A) n.421-37509G>A | ClinVar dbSNP |
12 | g.6031444C>A | CA383517507 | VWF | c.2820G>T (p.Glu940Asp) n.421-37510G>T | |
12 | g.6031444C>G | CA383517508 | VWF | c.2820G>C (p.Glu940Asp) n.421-37510G>C | |
12 | g.6031444C>T | CA478102640 | VWF | c.2820G>A (p.Glu940=) n.421-37510G>A | gnomAD v3 gnomAD v4 |
12 | g.6031445T>A | CA383517510 | VWF | c.2819A>T (p.Glu940Val) n.421-37511A>T | |
12 | g.6031445T>C | CA383517513 | VWF | c.2819A>G (p.Glu940Gly) n.421-37511A>G | dbSNP |
12 | g.6031445T>G | CA383517511 | VWF | c.2819A>C (p.Glu940Ala) n.421-37511A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031445T= | CA2013876655 | VWF | c.2819A= (p.Glu940=) n.421-37511A= | |
12 | g.6031447_6031452del | CA2617231093 | VWF | c.2814_2819del (p.Asp938_Gly939del) n.421-37516_421-37511del | gnomAD v4 |
12 | g.6031446C>A | CA383517516 | VWF | c.2818G>T (p.Glu940Ter) n.421-37512G>T | |
12 | g.6031446C>G | CA383517521 | VWF | c.2818G>C (p.Glu940Gln) n.421-37512G>C | |
12 | g.6031446C>T | CA383517518 | VWF | c.2818G>A (p.Glu940Lys) n.421-37512G>A | |
12 | g.6031447C>A | CA478102643 | VWF | c.2817G>T (p.Gly939=) n.421-37513G>T | |
12 | g.6031447C= | CA2013876656 | VWF | c.2817G= (p.Gly939=) n.421-37513G= | |
12 | g.6031447C>G | CA478102645 | VWF | c.2817G>C (p.Gly939=) n.421-37513G>C | dbSNP gnomAD v4 |
12 | g.6031447C>T | CA478102646 | VWF | c.2817G>A (p.Gly939=) n.421-37513G>A | |
12 | g.6031448C>A | CA383517522 | VWF | c.2816G>T (p.Gly939Val) n.421-37514G>T | |
12 | g.6031448C>G | CA383517523 | VWF | c.2816G>C (p.Gly939Ala) n.421-37514G>C | |
12 | g.6031448C>T | CA383517524 | VWF | c.2816G>A (p.Gly939Glu) n.421-37514G>A | gnomAD v4 |
12 | g.6031449C>A | CA383517526 | VWF | c.2815G>T (p.Gly939Trp) n.421-37515G>T | |
12 | g.6031449C= | CA2013876658 | VWF | c.2815G= (p.Gly939=) n.421-37515G= | |
12 | g.6031449C>G | CA383517529 | VWF | c.2815G>C (p.Gly939Arg) n.421-37515G>C | gnomAD v4 |
12 | g.6031449C>T | CA6402950 | VWF | c.2815G>A (p.Gly939Arg) n.421-37515G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031450G>A | CA6402951 | VWF | c.2814C>T (p.Asp938=) n.421-37516C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031450G>C | CA383517533 | VWF | c.2814C>G (p.Asp938Glu) n.421-37516C>G | |
12 | g.6031450G= | CA2013876659 | VWF | c.2814C= (p.Asp938=) n.421-37516C= | |
12 | g.6031450G>T | CA383517535 | VWF | c.2814C>A (p.Asp938Glu) n.421-37516C>A | |
12 | g.6031451T>A | CA383517541 | VWF | c.2813A>T (p.Asp938Val) n.421-37517A>T | |
12 | g.6031451T>C | CA383517540 | VWF | c.2813A>G (p.Asp938Gly) n.421-37517A>G | |
12 | g.6031451T>G | CA383517539 | VWF | c.2813A>C (p.Asp938Ala) n.421-37517A>C | |
12 | g.6031452C>A | CA383517544 | VWF | c.2812G>T (p.Asp938Tyr) n.421-37518G>T | |
12 | g.6031452C>G | CA383517546 | VWF | c.2812G>C (p.Asp938His) n.421-37518G>C | gnomAD v4 |
12 | g.6031452C>T | CA383517548 | VWF | c.2812G>A (p.Asp938Asn) n.421-37518G>A | |
12 | g.6031453A>C | CA383517551 | VWF | c.2811T>G (p.Phe937Leu) n.421-37519T>G | |
12 | g.6031453A>G | CA478102650 | VWF | c.2811T>C (p.Phe937=) n.421-37519T>C | |
12 | g.6031453A>T | CA383517552 | VWF | c.2811T>A (p.Phe937Leu) n.421-37519T>A | |
12 | g.6031454A= | CA2013876661 | VWF | c.2810T= (p.Phe937=) n.421-37520T= | |
12 | g.6031454A>C | CA383517554 | VWF | c.2810T>G (p.Phe937Cys) n.421-37520T>G | |
12 | g.6031454A>G | CA383517556 | VWF | c.2810T>C (p.Phe937Ser) n.421-37520T>C | dbSNP |
12 | g.6031454A>T | CA383517558 | VWF | c.2810T>A (p.Phe937Tyr) n.421-37520T>A | |
12 | g.6031455A>C | CA383517561 | VWF | c.2809T>G (p.Phe937Val) n.421-37521T>G | |
12 | g.6031455A>G | CA383517562 | VWF | c.2809T>C (p.Phe937Leu) n.421-37521T>C | COSMIC |
12 | g.6031455A>T | CA383517563 | VWF | c.2809T>A (p.Phe937Ile) n.421-37521T>A | |
12 | g.6031456C>A | CA478102651 | VWF | c.2808G>T (p.Leu936=) n.421-37522G>T | |
12 | g.6031456C>G | CA478102654 | VWF | c.2808G>C (p.Leu936=) n.421-37522G>C | |
12 | g.6031456C>T | CA478102652 | VWF | c.2808G>A (p.Leu936=) n.421-37522G>A | |
12 | g.6031457A>C | CA383517567 | VWF | c.2807T>G (p.Leu936Arg) n.421-37523T>G | |
12 | g.6031457A>G | CA383517569 | VWF | c.2807T>C (p.Leu936Pro) n.421-37523T>C | |
12 | g.6031457A>T | CA383517565 | VWF | c.2807T>A (p.Leu936Gln) n.421-37523T>A | |
12 | g.6031458G>A | CA478102655 | VWF | c.2806C>T (p.Leu936=) n.421-37524C>T | gnomAD v4 |
12 | g.6031458G>C | CA383517572 | VWF | c.2806C>G (p.Leu936Val) n.421-37524C>G | dbSNP |
12 | g.6031458G= | CA2013876663 | VWF | c.2806C= (p.Leu936=) n.421-37524C= | |
12 | g.6031458G>T | CA383517574 | VWF | c.2806C>A (p.Leu936Met) n.421-37524C>A | dbSNP |
12 | g.6031459C>A | CA383517576 | VWF | c.2805G>T (p.Glu935Asp) n.421-37525G>T | |
12 | g.6031459C= | CA2013876665 | VWF | c.2805G= (p.Glu935=) n.421-37525G= | |
12 | g.6031459C>G | CA383517578 | VWF | c.2805G>C (p.Glu935Asp) n.421-37525G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031459C>T | CA478102656 | VWF | c.2805G>A (p.Glu935=) n.421-37525G>A | |
12 | g.6031460T>A | CA383517580 | VWF | c.2804A>T (p.Glu935Val) n.421-37526A>T | |
12 | g.6031460T>C | CA383517582 | VWF | c.2804A>G (p.Glu935Gly) n.421-37526A>G | gnomAD v4 |
12 | g.6031460T>G | CA383517584 | VWF | c.2804A>C (p.Glu935Ala) n.421-37526A>C | |
12 | g.6031461C>A | CA383517587 | VWF | c.2803G>T (p.Glu935Ter) n.421-37527G>T | |
12 | g.6031461C= | CA2013876667 | VWF | c.2803G= (p.Glu935=) n.421-37527G= | |
12 | g.6031461C>G | CA383517588 | VWF | c.2803G>C (p.Glu935Gln) n.421-37527G>C | dbSNP |
12 | g.6031461C>T | CA6402952 | VWF | c.2803G>A (p.Glu935Lys) n.421-37527G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031462A>C | CA383517591 | VWF | c.2802T>G (p.Ile934Met) n.421-37528T>G | |
12 | g.6031462A>G | CA478102658 | VWF | c.2802T>C (p.Ile934=) n.421-37528T>C | |
12 | g.6031462A>T | CA478102659 | VWF | c.2802T>A (p.Ile934=) n.421-37528T>A | |
12 | g.6031463A= | CA2013876670 | VWF | c.2801T= (p.Ile934=) n.421-37529T= | |
12 | g.6031463A>C | CA383517597 | VWF | c.2801T>G (p.Ile934Ser) n.421-37529T>G | |
12 | g.6031463A>G | CA232298863 | VWF | c.2801T>C (p.Ile934Thr) n.421-37529T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031463A>T | CA383517595 | VWF | c.2801T>A (p.Ile934Asn) n.421-37529T>A | |
12 | g.6031464T>A | CA383517601 | VWF | c.2800A>T (p.Ile934Phe) n.421-37530A>T | dbSNP |
12 | g.6031464T>C | CA383517603 | VWF | c.2800A>G (p.Ile934Val) n.421-37530A>G | |
12 | g.6031464T>G | CA383517605 | VWF | c.2800A>C (p.Ile934Leu) n.421-37530A>C | |
12 | g.6031464T= | CA2013876672 | VWF | c.2800A= (p.Ile934=) n.421-37530A= | |
12 | g.6031465C>A | CA232298864 | VWF | c.2799G>T (p.Glu933Asp) n.421-37531G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031465C= | CA2013876673 | VWF | c.2799G= (p.Glu933=) n.421-37531G= | |
12 | g.6031465C>G | CA383517610 | VWF | c.2799G>C (p.Glu933Asp) n.421-37531G>C | |
12 | g.6031465C>T | CA478102663 | VWF | c.2799G>A (p.Glu933=) n.421-37531G>A | |
12 | g.6031466T>A | CA383517617 | VWF | c.2798A>T (p.Glu933Val) n.421-37532A>T | |
12 | g.6031466T>C | CA383517613 | VWF | c.2798A>G (p.Glu933Gly) n.421-37532A>G | |
12 | g.6031466T>G | CA383517615 | VWF | c.2798A>C (p.Glu933Ala) n.421-37532A>C | |
12 | g.6031467C>A | CA383517620 | VWF | c.2797G>T (p.Glu933Ter) n.421-37533G>T | |
12 | g.6031467C>G | CA383517623 | VWF | c.2797G>C (p.Glu933Gln) n.421-37533G>C | |
12 | g.6031467C>T | CA383517625 | VWF | c.2797G>A (p.Glu933Lys) n.421-37533G>A | |
12 | g.6031468T>A | CA478102665 | VWF | c.2796A>T (p.Gly932=) n.421-37534A>T | |
12 | g.6031468T>C | CA478102666 | VWF | c.2796A>G (p.Gly932=) n.421-37534A>G | |
12 | g.6031468T>G | CA478102667 | VWF | c.2796A>C (p.Gly932=) n.421-37534A>C | |
12 | g.6031470_6031498del | CA2575054027 | VWF | c.2768_2796del (p.Lys923ArgfsTer3) n.421-37562_421-37534del | gnomAD v4 |
12 | g.6031469C>A | CA383517628 | VWF | c.2795G>T (p.Gly932Val) n.421-37535G>T | gnomAD v4 |
12 | g.6031469C= | CA2013876675 | VWF | c.2795G= (p.Gly932=) n.421-37535G= | |
12 | g.6031469C>G | CA383517630 | VWF | c.2795G>C (p.Gly932Ala) n.421-37535G>C | |
12 | g.6031469C>T | CA6402953 | VWF | c.2795G>A (p.Gly932Glu) n.421-37535G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031470C>A | CA383517636 | VWF | c.2794G>T (p.Gly932Ter) n.421-37536G>T | |
12 | g.6031470C>G | CA383517639 | VWF | c.2794G>C (p.Gly932Arg) n.421-37536G>C | |
12 | g.6031470C>T | CA383517634 | VWF | c.2794G>A (p.Gly932Arg) n.421-37536G>A | |
12 | g.6031471T>A | CA478102670 | VWF | c.2793A>T (p.Gly931=) n.421-37537A>T | |
12 | g.6031471T>C | CA478102672 | VWF | c.2793A>G (p.Gly931=) n.421-37537A>G | |
12 | g.6031471T>G | CA478102668 | VWF | c.2793A>C (p.Gly931=) n.421-37537A>C | |
12 | g.6031472C>A | CA383517646 | VWF | c.2792G>T (p.Gly931Val) n.421-37538G>T | |
12 | g.6031472C>G | CA383517642 | VWF | c.2792G>C (p.Gly931Ala) n.421-37538G>C | COSMIC |
12 | g.6031472C>T | CA383517644 | VWF | c.2792G>A (p.Gly931Glu) n.421-37538G>A | gnomAD v4 |
12 | g.6031473C>A | CA383517649 | VWF | c.2791G>T (p.Gly931Ter) n.421-37539G>T | |
12 | g.6031473C= | CA2013876677 | VWF | c.2791G= (p.Gly931=) n.421-37539G= | |
12 | g.6031473C>G | CA383517651 | VWF | c.2791G>C (p.Gly931Arg) n.421-37539G>C | |
12 | g.6031473C>T | CA6402954 | VWF | c.2791G>A (p.Gly931Arg) n.421-37539G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6031474C>A | CA383517655 | VWF | c.2790G>T (p.Glu930Asp) n.421-37540G>T | |
12 | g.6031474C>G | CA383517656 | VWF | c.2790G>C (p.Glu930Asp) n.421-37540G>C | |
12 | g.6031474C>T | CA478102674 | VWF | c.2790G>A (p.Glu930=) n.421-37540G>A | |
12 | g.6031475T>A | CA383517658 | VWF | c.2789A>T (p.Glu930Val) n.421-37541A>T | |
12 | g.6031475T>C | CA383517661 | VWF | c.2789A>G (p.Glu930Gly) n.421-37541A>G | |
12 | g.6031475T>G | CA383517662 | VWF | c.2789A>C (p.Glu930Ala) n.421-37541A>C | |
12 | g.6031476C>A | CA383517665 | VWF | c.2788G>T (p.Glu930Ter) n.421-37542G>T | |
12 | g.6031476C>G | CA383517666 | VWF | c.2788G>C (p.Glu930Gln) n.421-37542G>C | |
12 | g.6031476C>T | CA383517667 | VWF | c.2788G>A (p.Glu930Lys) n.421-37542G>A | gnomAD v4 |
12 | g.6031479_6031481dup | CA2794398054 | VWF | c.2786_2788dup (p.Val929_Glu930insVal) n.421-37544_421-37542dup | |
12 | g.6031477C>A | CA478102675 | VWF | c.2787G>T (p.Val929=) n.421-37543G>T | |
12 | g.6031477C>G | CA478102676 | VWF | c.2787G>C (p.Val929=) n.421-37543G>C | |
12 | g.6031477C>T | CA478102677 | VWF | c.2787G>A (p.Val929=) n.421-37543G>A | gnomAD v4 |
12 | g.6031478A= | CA2013876679 | VWF | c.2786T= (p.Val929=) n.421-37544T= | |
12 | g.6031478A>C | CA383517674 | VWF | c.2786T>G (p.Val929Gly) n.421-37544T>G | dbSNP |
12 | g.6031478A>G | CA383517670 | VWF | c.2786T>C (p.Val929Ala) n.421-37544T>C | |
12 | g.6031478A>T | CA383517672 | VWF | c.2786T>A (p.Val929Glu) n.421-37544T>A | |
12 | g.6031479C>A | CA383517676 | VWF | c.2785G>T (p.Val929Leu) n.421-37545G>T | |
12 | g.6031479C= | CA2013876681 | VWF | c.2785G= (p.Val929=) n.421-37545G= | |
12 | g.6031479C>G | CA383517679 | VWF | c.2785G>C (p.Val929Leu) n.421-37545G>C | |
12 | g.6031479C>T | CA232298865 | VWF | c.2785G>A (p.Val929Met) n.421-37545G>A | dbSNP |
12 | g.6031480C>A | CA478102680 | VWF | c.2784G>T (p.Leu928=) n.421-37546G>T | |
12 | g.6031480C>G | CA478102682 | VWF | c.2784G>C (p.Leu928=) n.421-37546G>C | |
12 | g.6031480C>T | CA478102685 | VWF | c.2784G>A (p.Leu928=) n.421-37546G>A | |
12 | g.6031481A= | CA2013876683 | VWF | c.2783T= (p.Leu928=) n.421-37547T= | |
12 | g.6031481A>C | CA383517683 | VWF | c.2783T>G (p.Leu928Arg) n.421-37547T>G | |
12 | g.6031481A>G | CA383517684 | VWF | c.2783T>C (p.Leu928Pro) n.421-37547T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031481A>T | CA383517686 | VWF | c.2783T>A (p.Leu928Gln) n.421-37547T>A | |
12 | g.6031481_6031488del | CA2617231094 | VWF | c.2776_2783del (p.Thr926GlyfsTer7) n.421-37554_421-37547del | gnomAD v4 |
12 | g.6031482G>A | CA478102686 | VWF | c.2782C>T (p.Leu928=) n.421-37548C>T | |
12 | g.6031482G>C | CA383517688 | VWF | c.2782C>G (p.Leu928Val) n.421-37548C>G | |
12 | g.6031482G>T | CA383517690 | VWF | c.2782C>A (p.Leu928Met) n.421-37548C>A | |
12 | g.6031483G>A | CA478102688 | VWF | c.2781C>T (p.Ile927=) n.421-37549C>T | COSMIC |
12 | g.6031483G>C | CA383517692 | VWF | c.2781C>G (p.Ile927Met) n.421-37549C>G | gnomAD v4 |
12 | g.6031483G>T | CA478102687 | VWF | c.2781C>A (p.Ile927=) n.421-37549C>A | |
12 | g.6031484A>C | CA383517696 | VWF | c.2780T>G (p.Ile927Ser) n.421-37550T>G | |
12 | g.6031484A>G | CA383517697 | VWF | c.2780T>C (p.Ile927Thr) n.421-37550T>C | |
12 | g.6031484A>T | CA383517700 | VWF | c.2780T>A (p.Ile927Asn) n.421-37550T>A | |
12 | g.6031485T>A | CA383517708 | VWF | c.2779A>T (p.Ile927Phe) n.421-37551A>T | |
12 | g.6031485T>C | CA383517706 | VWF | c.2779A>G (p.Ile927Val) n.421-37551A>G | dbSNP gnomAD v4 |
12 | g.6031485T>G | CA383517704 | VWF | c.2779A>C (p.Ile927Leu) n.421-37551A>C | |
12 | g.6031485T= | CA2013876685 | VWF | c.2779A= (p.Ile927=) n.421-37551A= | |
12 | g.6031486G>A | CA478102690 | VWF | c.2778C>T (p.Thr926=) n.421-37552C>T | |
12 | g.6031486G>C | CA478102691 | VWF | c.2778C>G (p.Thr926=) n.421-37552C>G | |
12 | g.6031486G= | CA2013876687 | VWF | c.2778C= (p.Thr926=) n.421-37552C= | |
12 | g.6031486G>T | CA478102692 | VWF | c.2778C>A (p.Thr926=) n.421-37552C>A | |
12 | g.6031486_6031487insAA | CA2013876688 | VWF | c.2777_2778insTT (p.Ile927SerfsTer16) n.421-37553_421-37552insTT | dbSNP gnomAD v4 |
12 | g.6031487G>A | CA383517711 | VWF | c.2777C>T (p.Thr926Ile) n.421-37553C>T | dbSNP gnomAD v4 |
12 | g.6031487G>C | CA383517713 | VWF | c.2777C>G (p.Thr926Ser) n.421-37553C>G | gnomAD v4 |
12 | g.6031487G= | CA2013876689 | VWF | c.2777C= (p.Thr926=) n.421-37553C= | |
12 | g.6031487G>T | CA383517715 | VWF | c.2777C>A (p.Thr926Asn) n.421-37553C>A | |
12 | g.6031488T>A | CA383517718 | VWF | c.2776A>T (p.Thr926Ser) n.421-37554A>T | |
12 | g.6031488T>C | CA383517720 | VWF | c.2776A>G (p.Thr926Ala) n.421-37554A>G | dbSNP gnomAD v4 |
12 | g.6031488T>G | CA383517722 | VWF | c.2776A>C (p.Thr926Pro) n.421-37554A>C | |
12 | g.6031488T= | CA2013876691 | VWF | c.2776A= (p.Thr926=) n.421-37554A= | |
12 | g.6031488_6031493delinsTGACCC | CA2013876692 | VWF | c.2771_2776delinsGGGTCA (p.Arg924=) n.421-37559_421-37554delinsGGGTCA | |
12 | g.6031489G>A | CA6402955 | VWF | c.2775C>T (p.Val925=) n.421-37555C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031489G>C | CA478102694 | VWF | c.2775C>G (p.Val925=) n.421-37555C>G | |
12 | g.6031489G= | CA2013876695 | VWF | c.2775C= (p.Val925=) n.421-37555C= | |
12 | g.6031489G>T | CA478102695 | VWF | c.2775C>A (p.Val925=) n.421-37555C>A | |
12 | g.6031490_6031494del | CA2013876694 | VWF | c.2771_2775del (p.Arg924HisfsTer10) n.421-37559_421-37555del | dbSNP gnomAD v4 |
12 | g.6031490A>C | CA383517723 | VWF | c.2774T>G (p.Val925Gly) n.421-37556T>G | |
12 | g.6031490A>G | CA383517724 | VWF | c.2774T>C (p.Val925Ala) n.421-37556T>C | |
12 | g.6031490A>T | CA383517725 | VWF | c.2774T>A (p.Val925Asp) n.421-37556T>A | |
12 | g.6031490_6031491delinsAC | CA2013876697 | VWF | c.2773_2774delinsGT (p.Val925=) n.421-37557_421-37556delinsGT | |
12 | g.6031491C>A | CA383517726 | VWF | c.2773G>T (p.Val925Phe) n.421-37557G>T | |
12 | g.6031491C= | CA2013876700 | VWF | c.2773G= (p.Val925=) n.421-37557G= | |
12 | g.6031491C>G | CA383517727 | VWF | c.2773G>C (p.Val925Leu) n.421-37557G>C | |
12 | g.6031491C>T | CA6402956 | VWF | c.2773G>A (p.Val925Ile) n.421-37557G>A | dbSNP ExAC gnomAD v2 |
12 | g.6031493del | CA2013876699 | VWF | c.2773del (p.Val925SerfsTer17) n.421-37557del | dbSNP |
12 | g.6031492C>A | CA478102696 | VWF | c.2772G>T (p.Arg924=) n.421-37558G>T | |
12 | g.6031492C>G | CA478102698 | VWF | c.2772G>C (p.Arg924=) n.421-37558G>C | |
12 | g.6031492C>T | CA478102700 | VWF | c.2772G>A (p.Arg924=) n.421-37558G>A | |
12 | g.6031493C>A | CA383517729 | VWF | c.2771G>T (p.Arg924Leu) n.421-37559G>T | |
12 | g.6031493C= | CA2013876703 | VWF | c.2771G= (p.Arg924=) n.421-37559G= | |
12 | g.6031493C>G | CA383517728 | VWF | c.2771G>C (p.Arg924Pro) n.421-37559G>C | |
12 | g.6031493C>T | CA228368 | VWF | c.2771G>A (p.Arg924Gln) n.421-37559G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |