Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6031470_6031498del | CA2575054027 | VWF | c.2768_2796del (p.Lys923ArgfsTer3) n.421-37562_421-37534del | 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 |
12 | g.6031494G>A | CA228366 | VWF | c.2770C>T (p.Arg924Trp) n.421-37560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6031494G>C | CA383517730 | VWF | c.2770C>G (p.Arg924Gly) n.421-37560C>G | |
12 | g.6031494G= | CA2013876706 | VWF | c.2770C= (p.Arg924=) n.421-37560C= | |
12 | g.6031494G>T | CA478102702 | VWF | c.2770C>A (p.Arg924=) n.421-37560C>A | ClinVar |
12 | g.6031495T>A | CA383517731 | VWF | c.2769A>T (p.Lys923Asn) n.421-37561A>T | |
12 | g.6031495T>C | CA478102703 | VWF | c.2769A>G (p.Lys923=) n.421-37561A>G | |
12 | g.6031495T>G | CA383517732 | VWF | c.2769A>C (p.Lys923Asn) n.421-37561A>C | |
12 | g.6031496T>A | CA383517733 | VWF | c.2768A>T (p.Lys923Ile) n.421-37562A>T | |
12 | g.6031496T>C | CA6402957 | VWF | c.2768A>G (p.Lys923Arg) n.421-37562A>G | dbSNP ExAC gnomAD v2 |
12 | g.6031496T>G | CA383517734 | VWF | c.2768A>C (p.Lys923Thr) n.421-37562A>C | |
12 | g.6031496T= | CA2013876710 | VWF | c.2768A= (p.Lys923=) n.421-37562A= | |
12 | g.6031497T>A | CA383517735 | VWF | c.2767A>T (p.Lys923Ter) n.421-37563A>T | |
12 | g.6031497T>C | CA383517736 | VWF | c.2767A>G (p.Lys923Glu) n.421-37563A>G | |
12 | g.6031497T>G | CA383517737 | VWF | c.2767A>C (p.Lys923Gln) n.421-37563A>C | |
12 | g.6031498C>A | CA383517738 | VWF | c.2766G>T (p.Lys922Asn) n.421-37564G>T | |
12 | g.6031498C= | CA2013876712 | VWF | c.2766G= (p.Lys922=) n.421-37564G= | |
12 | g.6031498C>G | CA383517739 | VWF | c.2766G>C (p.Lys922Asn) n.421-37564G>C | dbSNP |
12 | g.6031498C>T | CA478102707 | VWF | c.2766G>A (p.Lys922=) n.421-37564G>A | |
12 | g.6031499T>A | CA383517740 | VWF | c.2765A>T (p.Lys922Met) n.421-37565A>T | |
12 | g.6031499T>C | CA383517742 | VWF | c.2765A>G (p.Lys922Arg) n.421-37565A>G | dbSNP gnomAD v4 |
12 | g.6031499T>G | CA383517741 | VWF | c.2765A>C (p.Lys922Thr) n.421-37565A>C | |
12 | g.6031499T= | CA2013876714 | VWF | c.2765A= (p.Lys922=) n.421-37565A= | |
12 | g.6031500T>A | CA383517743 | VWF | c.2764A>T (p.Lys922Ter) n.421-37566A>T | |
12 | g.6031500T>C | CA383517745 | VWF | c.2764A>G (p.Lys922Glu) n.421-37566A>G | |
12 | g.6031500T>G | CA383517744 | VWF | c.2764A>C (p.Lys922Gln) n.421-37566A>C | |
12 | g.6031501G>A | CA478102709 | VWF | c.2763C>T (p.Cys921=) n.421-37567C>T | |
12 | g.6031501G>C | CA383517746 | VWF | c.2763C>G (p.Cys921Trp) n.421-37567C>G | gnomAD v4 |
12 | g.6031501G>T | CA383517747 | VWF | c.2763C>A (p.Cys921Ter) n.421-37567C>A | |
12 | g.6031502C>A | CA383517748 | VWF | c.2762G>T (p.Cys921Phe) n.421-37568G>T | |
12 | g.6031502C= | CA2013876716 | VWF | c.2762G= (p.Cys921=) n.421-37568G= | |
12 | g.6031502C>G | CA383517750 | VWF | c.2762G>C (p.Cys921Ser) n.421-37568G>C | |
12 | g.6031502C>T | CA383517749 | VWF | c.2762G>A (p.Cys921Tyr) n.421-37568G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031503A>C | CA383517751 | VWF | c.2761T>G (p.Cys921Gly) n.421-37569T>G | |
12 | g.6031503A>G | CA383517753 | VWF | c.2761T>C (p.Cys921Arg) n.421-37569T>C | COSMIC |
12 | g.6031503A>T | CA383517752 | VWF | c.2761T>A (p.Cys921Ser) n.421-37569T>A | |
12 | g.6031504T>A | CA383517754 | VWF | c.2760A>T (p.Lys920Asn) n.421-37570A>T | |
12 | g.6031504T>C | CA478102714 | VWF | c.2760A>G (p.Lys920=) n.421-37570A>G | dbSNP gnomAD v4 |
12 | g.6031504T>G | CA383517755 | VWF | c.2760A>C (p.Lys920Asn) n.421-37570A>C | |
12 | g.6031504T= | CA2013876718 | VWF | c.2760A= (p.Lys920=) n.421-37570A= | |
12 | g.6031505T>A | CA383517756 | VWF | c.2759A>T (p.Lys920Ile) n.421-37571A>T | |
12 | g.6031505T>C | CA383517757 | VWF | c.2759A>G (p.Lys920Arg) n.421-37571A>G | |
12 | g.6031505T>G | CA383517758 | VWF | c.2759A>C (p.Lys920Thr) n.421-37571A>C | |
12 | g.6031506T>A | CA383517759 | VWF | c.2758A>T (p.Lys920Ter) n.421-37572A>T | |
12 | g.6031506T>C | CA383517760 | VWF | c.2758A>G (p.Lys920Glu) n.421-37572A>G | |
12 | g.6031506T>G | CA383517761 | VWF | c.2758A>C (p.Lys920Gln) n.421-37572A>C | |
12 | g.6031507C>A | CA478102715 | VWF | c.2757G>T (p.Val919=) n.421-37573G>T | |
12 | g.6031507C>G | CA478102716 | VWF | c.2757G>C (p.Val919=) n.421-37573G>C | |
12 | g.6031507C>T | CA478102717 | VWF | c.2757G>A (p.Val919=) n.421-37573G>A | |
12 | g.6031508A= | CA2013876720 | VWF | c.2756T= (p.Val919=) n.421-37574T= | |
12 | g.6031508A>C | CA383517762 | VWF | c.2756T>G (p.Val919Gly) n.421-37574T>G | |
12 | g.6031508A>G | CA383517763 | VWF | c.2756T>C (p.Val919Ala) n.421-37574T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6031508A>T | CA383517764 | VWF | c.2756T>A (p.Val919Glu) n.421-37574T>A | |
12 | g.6031509C>A | CA383517765 | VWF | c.2755G>T (p.Val919Leu) n.421-37575G>T | |
12 | g.6031509C>G | CA383517766 | VWF | c.2755G>C (p.Val919Leu) n.421-37575G>C | gnomAD v4 |
12 | g.6031509C>T | CA383517767 | VWF | c.2755G>A (p.Val919Met) n.421-37575G>A | |
12 | g.6031510T>A | CA478102719 | VWF | c.2754A>T (p.Ser918=) n.421-37576A>T | |
12 | g.6031510T>C | CA478102720 | VWF | c.2754A>G (p.Ser918=) n.421-37576A>G | |
12 | g.6031510T>G | CA478102721 | VWF | c.2754A>C (p.Ser918=) n.421-37576A>C | |
12 | g.6031511G>A | CA383517770 | VWF | c.2753C>T (p.Ser918Leu) n.421-37577C>T | |
12 | g.6031511G>C | CA383517768 | VWF | c.2753C>G (p.Ser918Ter) n.421-37577C>G | ClinVar dbSNP |
12 | g.6031511G>T | CA383517769 | VWF | c.2753C>A (p.Ser918Ter) n.421-37577C>A | |
12 | g.6031512_6031515dup | CA2695215955 | VWF | c.2750_2753dup (p.Val919LeufsTer18) n.421-37580_421-37577dup | |
12 | g.6031512A>C | CA383517771 | VWF | c.2752T>G (p.Ser918Ala) n.421-37578T>G | |
12 | g.6031512A>G | CA383517772 | VWF | c.2752T>C (p.Ser918Pro) n.421-37578T>C | |
12 | g.6031512A>T | CA383517773 | VWF | c.2752T>A (p.Ser918Thr) n.421-37578T>A | |
12 | g.6031513G>A | CA478102723 | VWF | c.2751C>T (p.Pro917=) n.421-37579C>T | |
12 | g.6031513G>C | CA478102724 | VWF | c.2751C>G (p.Pro917=) n.421-37579C>G | |
12 | g.6031513G>T | CA478102725 | VWF | c.2751C>A (p.Pro917=) n.421-37579C>A | |
12 | g.6031514G>A | CA383517774 | VWF | c.2750C>T (p.Pro917Leu) n.421-37580C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031514G>C | CA383517775 | VWF | c.2750C>G (p.Pro917Arg) n.421-37580C>G | |
12 | g.6031514G= | CA2013876723 | VWF | c.2750C= (p.Pro917=) n.421-37580C= | |
12 | g.6031514G>T | CA383517776 | VWF | c.2750C>A (p.Pro917His) n.421-37580C>A | |
12 | g.6031515G>A | CA383517777 | VWF | c.2749C>T (p.Pro917Ser) n.421-37581C>T | dbSNP gnomAD v4 |
12 | g.6031515G>C | CA383517778 | VWF | c.2749C>G (p.Pro917Ala) n.421-37581C>G | dbSNP |
12 | g.6031515G= | CA2013876725 | VWF | c.2749C= (p.Pro917=) n.421-37581C= | |
12 | g.6031515G>T | CA383517779 | VWF | c.2749C>A (p.Pro917Thr) n.421-37581C>A | |
12 | g.6031516G>A | CA478102726 | VWF | c.2748C>T (p.His916=) n.421-37582C>T | dbSNP gnomAD v4 |
12 | g.6031516G>C | CA383517780 | VWF | c.2748C>G (p.His916Gln) n.421-37582C>G | |
12 | g.6031516G= | CA2013876727 | VWF | c.2748C= (p.His916=) n.421-37582C= | |
12 | g.6031516G>T | CA383517781 | VWF | c.2748C>A (p.His916Gln) n.421-37582C>A | |
12 | g.6031517T>A | CA383517784 | VWF | c.2747A>T (p.His916Leu) n.421-37583A>T | |
12 | g.6031517T>C | CA383517783 | VWF | c.2747A>G (p.His916Arg) n.421-37583A>G | gnomAD v4 |
12 | g.6031517T>G | CA383517782 | VWF | c.2747A>C (p.His916Pro) n.421-37583A>C | |
12 | g.6031517T= | CA2013876729 | VWF | c.2747A= (p.His916=) n.421-37583A= | |
12 | g.6031518G>A | CA383517785 | VWF | c.2746C>T (p.His916Tyr) n.421-37584C>T | |
12 | g.6031518G>C | CA383517786 | VWF | c.2746C>G (p.His916Asp) n.421-37584C>G | |
12 | g.6031518G>T | CA383517787 | VWF | c.2746C>A (p.His916Asn) n.421-37584C>A | |
12 | g.6031519dup | CA2013876731 | VWF | c.2746dup (p.His916ProfsTer20) n.421-37584dup | dbSNP gnomAD v4 |
12 | g.6031519G>A | CA478102730 | VWF | c.2745C>T (p.Ser915=) n.421-37585C>T | gnomAD v4 |
12 | g.6031519G>C | CA383517788 | VWF | c.2745C>G (p.Ser915Arg) n.421-37585C>G | |
12 | g.6031519G>T | CA383517789 | VWF | c.2745C>A (p.Ser915Arg) n.421-37585C>A | |
12 | g.6031520C>A | CA383517790 | VWF | c.2744G>T (p.Ser915Ile) n.421-37586G>T | |
12 | g.6031520C= | CA2013876735 | VWF | c.2744G= (p.Ser915=) n.421-37586G= | |
12 | g.6031520C>G | CA383517791 | VWF | c.2744G>C (p.Ser915Thr) n.421-37586G>C | |
12 | g.6031520C>T | CA6402958 | VWF | c.2744G>A (p.Ser915Asn) n.421-37586G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031521T>A | CA383517792 | VWF | c.2743A>T (p.Ser915Cys) n.421-37587A>T | |
12 | g.6031521T>C | CA383517793 | VWF | c.2743A>G (p.Ser915Gly) n.421-37587A>G | |
12 | g.6031521T>G | CA383517794 | VWF | c.2743A>C (p.Ser915Arg) n.421-37587A>C | |
12 | g.6031522G>A | CA478102731 | VWF | c.2742C>T (p.Cys914=) n.421-37588C>T | |
12 | g.6031522G>C | CA383517795 | VWF | c.2742C>G (p.Cys914Trp) n.421-37588C>G | |
12 | g.6031522G>T | CA383517796 | VWF | c.2742C>A (p.Cys914Ter) n.421-37588C>A | |
12 | g.6031523C>A | CA383517797 | VWF | c.2741G>T (p.Cys914Phe) n.421-37589G>T | |
12 | g.6031523C= | CA2013876739 | VWF | c.2741G= (p.Cys914=) n.421-37589G= | |
12 | g.6031523C>G | CA383517798 | VWF | c.2741G>C (p.Cys914Ser) n.421-37589G>C | |
12 | g.6031523C>T | CA232298866 | VWF | c.2741G>A (p.Cys914Tyr) n.421-37589G>A | dbSNP |
12 | g.6031524A>C | CA383517800 | VWF | c.2740T>G (p.Cys914Gly) n.421-37590T>G | |
12 | g.6031524A>G | CA383517803 | VWF | c.2740T>C (p.Cys914Arg) n.421-37590T>C | |
12 | g.6031524A>T | CA383517804 | VWF | c.2740T>A (p.Cys914Ser) n.421-37590T>A | |
12 | g.6031525T>A | CA6402960 | VWF | c.2739A>T (p.Gly913=) n.421-37591A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031525T>C | CA478102733 | VWF | c.2739A>G (p.Gly913=) n.421-37591A>G | |
12 | g.6031525T>G | CA6402959 | VWF | c.2739A>C (p.Gly913=) n.421-37591A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031525T= | CA2013876741 | VWF | c.2739A= (p.Gly913=) n.421-37591A= | |
12 | g.6031526C>A | CA383517810 | VWF | c.2738G>T (p.Gly913Val) n.421-37592G>T | |
12 | g.6031526C= | CA2013876743 | VWF | c.2738G= (p.Gly913=) n.421-37592G= | |
12 | g.6031526C>G | CA383517812 | VWF | c.2738G>C (p.Gly913Ala) n.421-37592G>C | |
12 | g.6031526C>T | CA383517814 | VWF | c.2738G>A (p.Gly913Glu) n.421-37592G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6031527C>A | CA383517817 | VWF | c.2737G>T (p.Gly913Ter) n.421-37593G>T | |
12 | g.6031527C>G | CA383517819 | VWF | c.2737G>C (p.Gly913Arg) n.421-37593G>C | |
12 | g.6031527C>T | CA383517821 | VWF | c.2737G>A (p.Gly913Arg) n.421-37593G>A | gnomAD v4 |
12 | g.6031528C>A | CA383517824 | VWF | c.2736G>T (p.Lys912Asn) n.421-37594G>T | |
12 | g.6031528C= | CA2013876745 | VWF | c.2736G= (p.Lys912=) n.421-37594G= | |
12 | g.6031528C>G | CA6402961 | VWF | c.2736G>C (p.Lys912Asn) n.421-37594G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031528C>T | CA478102735 | VWF | c.2736G>A (p.Lys912=) n.421-37594G>A | gnomAD v4 |
12 | g.6031529T>A | CA383517828 | VWF | c.2735A>T (p.Lys912Met) n.421-37595A>T | |
12 | g.6031529T>C | CA383517830 | VWF | c.2735A>G (p.Lys912Arg) n.421-37595A>G | |
12 | g.6031529T>G | CA383517832 | VWF | c.2735A>C (p.Lys912Thr) n.421-37595A>C | |
12 | g.6031529T= | CA2013876748 | VWF | c.2735A= (p.Lys912=) n.421-37595A= | |
12 | g.6031529_6031530insA | CA228363 | VWF | c.2734_2735insT (p.Lys912IlefsTer24) n.421-37596_421-37595insT | ClinVar dbSNP |
12 | g.6031530T>A | CA383517836 | VWF | c.2734A>T (p.Lys912Ter) n.421-37596A>T | |
12 | g.6031530T>C | CA383517838 | VWF | c.2734A>G (p.Lys912Glu) n.421-37596A>G | |
12 | g.6031530T>G | CA383517839 | VWF | c.2734A>C (p.Lys912Gln) n.421-37596A>C | |
12 | g.6031531A>C | CA383517843 | VWF | c.2733T>G (p.Asn911Lys) n.421-37597T>G | |
12 | g.6031531A>G | CA478102737 | VWF | c.2733T>C (p.Asn911=) n.421-37597T>C | |
12 | g.6031531A>T | CA383517841 | VWF | c.2733T>A (p.Asn911Lys) n.421-37597T>A | |
12 | g.6031531dup | CA2695215956 | VWF | c.2733dup (p.Lys912Ter) n.421-37597dup | |
12 | g.6031532T>A | CA383517846 | VWF | c.2732A>T (p.Asn911Ile) n.421-37598A>T | |
12 | g.6031532T>C | CA383517848 | VWF | c.2732A>G (p.Asn911Ser) n.421-37598A>G | |
12 | g.6031532T>G | CA383517850 | VWF | c.2732A>C (p.Asn911Thr) n.421-37598A>C | |
12 | g.6031533T>A | CA383517856 | VWF | c.2731A>T (p.Asn911Tyr) n.421-37599A>T | |
12 | g.6031533T>C | CA383517857 | VWF | c.2731A>G (p.Asn911Asp) n.421-37599A>G | |
12 | g.6031533T>G | CA383517861 | VWF | c.2731A>C (p.Asn911His) n.421-37599A>C | |
12 | g.6031534C>A | CA478102739 | VWF | c.2730G>T (p.Gly910=) n.421-37600G>T | gnomAD v4 |
12 | g.6031534C>G | CA478102740 | VWF | c.2730G>C (p.Gly910=) n.421-37600G>C | |
12 | g.6031534C>T | CA478102738 | VWF | c.2730G>A (p.Gly910=) n.421-37600G>A | |
12 | g.6031537dup | CA645595309 | VWF | c.2730dup (p.Asn911GlufsTer2) n.421-37600dup | COSMIC |
12 | g.6031535C>A | CA383517874 | VWF | c.2729G>T (p.Gly910Val) n.421-37601G>T | |
12 | g.6031535C>G | CA383517882 | VWF | c.2729G>C (p.Gly910Ala) n.421-37601G>C | |
12 | g.6031535C>T | CA383517881 | VWF | c.2729G>A (p.Gly910Glu) n.421-37601G>A | |
12 | g.6031536C>A | CA383517883 | VWF | c.2728G>T (p.Gly910Trp) n.421-37602G>T | |
12 | g.6031536C>G | CA383517884 | VWF | c.2728G>C (p.Gly910Arg) n.421-37602G>C | |
12 | g.6031536C>T | CA383517885 | VWF | c.2728G>A (p.Gly910Arg) n.421-37602G>A | |
12 | g.6031537C>A | CA478102742 | VWF | c.2727G>T (p.Val909=) n.421-37603G>T | |
12 | g.6031537C= | CA2013876753 | VWF | c.2727G= (p.Val909=) n.421-37603G= | |
12 | g.6031537C>G | CA478102743 | VWF | c.2727G>C (p.Val909=) n.421-37603G>C | |
12 | g.6031537C>T | CA6402962 | VWF | c.2727G>A (p.Val909=) n.421-37603G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031538A>C | CA383517892 | VWF | c.2726T>G (p.Val909Gly) n.421-37604T>G | |
12 | g.6031538A>G | CA383517893 | VWF | c.2726T>C (p.Val909Ala) n.421-37604T>C | |
12 | g.6031538A>T | CA383517895 | VWF | c.2726T>A (p.Val909Glu) n.421-37604T>A | |
12 | g.6031539C>A | CA383517897 | VWF | c.2725G>T (p.Val909Leu) n.421-37605G>T | |
12 | g.6031539C= | CA2013876755 | VWF | c.2725G= (p.Val909=) n.421-37605G= | |
12 | g.6031539C>G | CA383517900 | VWF | c.2725G>C (p.Val909Leu) n.421-37605G>C | |
12 | g.6031539C>T | CA383517904 | VWF | c.2725G>A (p.Val909Met) n.421-37605G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031540T>A | CA478102744 | VWF | c.2724A>T (p.Leu908=) n.421-37606A>T | |
12 | g.6031540T>C | CA6402963 | VWF | c.2724A>G (p.Leu908=) n.421-37606A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031540T>G | CA478102745 | VWF | c.2724A>C (p.Leu908=) n.421-37606A>C | |
12 | g.6031540T= | CA2013876759 | VWF | c.2724A= (p.Leu908=) n.421-37606A= | |
12 | g.6031541A>C | CA383517908 | VWF | c.2723T>G (p.Leu908Arg) n.421-37607T>G | |
12 | g.6031541A>G | CA383517910 | VWF | c.2723T>C (p.Leu908Pro) n.421-37607T>C | |
12 | g.6031541A>T | CA383517909 | VWF | c.2723T>A (p.Leu908Gln) n.421-37607T>A | |
12 | g.6031542G>A | CA478102747 | VWF | c.2722C>T (p.Leu908=) n.421-37608C>T | gnomAD v4 |
12 | g.6031542G>C | CA383517914 | VWF | c.2722C>G (p.Leu908Val) n.421-37608C>G | |
12 | g.6031542G>T | CA383517915 | VWF | c.2722C>A (p.Leu908Ile) n.421-37608C>A | |
12 | g.6031543G>A | CA478102748 | VWF | c.2721C>T (p.Ile907=) n.421-37609C>T | gnomAD v4 COSMIC |
12 | g.6031543G>C | CA383517916 | VWF | c.2721C>G (p.Ile907Met) n.421-37609C>G | |
12 | g.6031543G= | CA2013876761 | VWF | c.2721C= (p.Ile907=) n.421-37609C= | |
12 | g.6031543G>T | CA478102749 | VWF | c.2721C>A (p.Ile907=) n.421-37609C>A | dbSNP gnomAD v4 |
12 | g.6031544A>C | CA383517917 | VWF | c.2720T>G (p.Ile907Ser) n.421-37610T>G | |
12 | g.6031544A>G | CA383517918 | VWF | c.2720T>C (p.Ile907Thr) n.421-37610T>C | |
12 | g.6031544A>T | CA383517919 | VWF | c.2720T>A (p.Ile907Asn) n.421-37610T>A | |
12 | g.6031545T>A | CA383517922 | VWF | c.2719A>T (p.Ile907Phe) n.421-37611A>T | |
12 | g.6031545T>C | CA383517925 | VWF | c.2719A>G (p.Ile907Val) n.421-37611A>G | |
12 | g.6031545T>G | CA383517927 | VWF | c.2719A>C (p.Ile907Leu) n.421-37611A>C | |
12 | g.6031546C>A | CA6402964 | VWF | c.2718G>T (p.Arg906=) n.421-37612G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031546C= | CA2013876762 | VWF | c.2718G= (p.Arg906=) n.421-37612G= | |
12 | g.6031546C>G | CA478102750 | VWF | c.2718G>C (p.Arg906=) n.421-37612G>C | COSMIC |
12 | g.6031546C>T | CA478102752 | VWF | c.2718G>A (p.Arg906=) n.421-37612G>A | |
12 | g.6031547C>A | CA6402966 | VWF | c.2717G>T (p.Arg906Leu) n.421-37613G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031547C= | CA2013876763 | VWF | c.2717G= (p.Arg906=) n.421-37613G= | |
12 | g.6031547C>G | CA383517929 | VWF | c.2717G>C (p.Arg906Pro) n.421-37613G>C | |
12 | g.6031547C>T | CA6402965 | VWF | c.2717G>A (p.Arg906Gln) n.421-37613G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031548G>A | CA6402967 | VWF | c.2716C>T (p.Arg906Trp) n.421-37614C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031548G>C | CA383517934 | VWF | c.2716C>G (p.Arg906Gly) n.421-37614C>G | |
12 | g.6031548G= | CA2013876767 | VWF | c.2716C= (p.Arg906=) n.421-37614C= | |
12 | g.6031548G>T | CA478102753 | VWF | c.2716C>A (p.Arg906=) n.421-37614C>A | |
12 | g.6031549A= | CA2013876772 | VWF | c.2715T= (p.Phe905=) n.421-37615T= | |
12 | g.6031549A>C | CA383517940 | VWF | c.2715T>G (p.Phe905Leu) n.421-37615T>G | |
12 | g.6031549A>G | CA6402968 | VWF | c.2715T>C (p.Phe905=) n.421-37615T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031549A>T | CA383517943 | VWF | c.2715T>A (p.Phe905Leu) n.421-37615T>A | |
12 | g.6031550A>C | CA383517944 | VWF | c.2714T>G (p.Phe905Cys) n.421-37616T>G | |
12 | g.6031550A>G | CA383517947 | VWF | c.2714T>C (p.Phe905Ser) n.421-37616T>C | |
12 | g.6031550A>T | CA383517948 | VWF | c.2714T>A (p.Phe905Tyr) n.421-37616T>A | |
12 | g.6031551A>C | CA383517951 | VWF | c.2713T>G (p.Phe905Val) n.421-37617T>G | |
12 | g.6031551A>G | CA383517952 | VWF | c.2713T>C (p.Phe905Leu) n.421-37617T>C | |
12 | g.6031551A>T | CA383517953 | VWF | c.2713T>A (p.Phe905Ile) n.421-37617T>A | |
12 | g.6031552G>A | CA478102756 | VWF | c.2712C>T (p.Thr904=) n.421-37618C>T | dbSNP |
12 | g.6031552G>C | CA478102754 | VWF | c.2712C>G (p.Thr904=) n.421-37618C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031552G= | CA2013876775 | VWF | c.2712C= (p.Thr904=) n.421-37618C= | |
12 | g.6031552G>T | CA478102755 | VWF | c.2712C>A (p.Thr904=) n.421-37618C>A | |
12 | g.6031553G>A | CA383517956 | VWF | c.2711C>T (p.Thr904Ile) n.421-37619C>T | |
12 | g.6031553G>C | CA383517958 | VWF | c.2711C>G (p.Thr904Ser) n.421-37619C>G | |
12 | g.6031553G= | CA2013876777 | VWF | c.2711C= (p.Thr904=) n.421-37619C= | |
12 | g.6031553G>T | CA383517959 | VWF | c.2711C>A (p.Thr904Asn) n.421-37619C>A | dbSNP gnomAD v4 |
12 | g.6031554T>A | CA383517967 | VWF | c.2710A>T (p.Thr904Ser) n.421-37620A>T | |
12 | g.6031554T>C | CA383517971 | VWF | c.2710A>G (p.Thr904Ala) n.421-37620A>G | |
12 | g.6031554T>G | CA383517964 | VWF | c.2710A>C (p.Thr904Pro) n.421-37620A>C | |
12 | g.6031555C>A | CA478102758 | VWF | c.2709G>T (p.Gly903=) n.421-37621G>T | |
12 | g.6031555C>G | CA478102759 | VWF | c.2709G>C (p.Gly903=) n.421-37621G>C | |
12 | g.6031555C>T | CA478102757 | VWF | c.2709G>A (p.Gly903=) n.421-37621G>A | |
12 | g.6031556C>A | CA383517977 | VWF | c.2708G>T (p.Gly903Val) n.421-37622G>T | |
12 | g.6031556C>G | CA383517975 | VWF | c.2708G>C (p.Gly903Ala) n.421-37622G>C | |
12 | g.6031556C>T | CA383517981 | VWF | c.2708G>A (p.Gly903Glu) n.421-37622G>A | |
12 | g.6031557C>A | CA383517983 | VWF | c.2707G>T (p.Gly903Trp) n.421-37623G>T | |
12 | g.6031557C>G | CA383517987 | VWF | c.2707G>C (p.Gly903Arg) n.421-37623G>C | |
12 | g.6031557C>T | CA383517988 | VWF | c.2707G>A (p.Gly903Arg) n.421-37623G>A | |
12 | g.6031558A= | CA2013876780 | VWF | c.2706T= (p.Pro902=) n.421-37624T= | |
12 | g.6031558A>C | CA478102760 | VWF | c.2706T>G (p.Pro902=) n.421-37624T>G | |
12 | g.6031558A>G | CA478102761 | VWF | c.2706T>C (p.Pro902=) n.421-37624T>C | |
12 | g.6031558A>T | CA478102762 | VWF | c.2706T>A (p.Pro902=) n.421-37624T>A | dbSNP gnomAD v2 |
12 | g.6031559G>A | CA383517989 | VWF | c.2705C>T (p.Pro902Leu) n.421-37625C>T | gnomAD v4 COSMIC |
12 | g.6031559G>C | CA383517990 | VWF | c.2705C>G (p.Pro902Arg) n.421-37625C>G | |
12 | g.6031559G>T | CA383517992 | VWF | c.2705C>A (p.Pro902His) n.421-37625C>A | |
12 | g.6031560G>A | CA383517997 | VWF | c.2704C>T (p.Pro902Ser) n.421-37626C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6031560G>C | CA6402969 | VWF | c.2704C>G (p.Pro902Ala) n.421-37626C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031560G= | CA2013876784 | VWF | c.2704C= (p.Pro902=) n.421-37626C= | |
12 | g.6031560G>T | CA383518008 | VWF | c.2704C>A (p.Pro902Thr) n.421-37626C>A | |
12 | g.6031561G>A | CA478102763 | VWF | c.2703C>T (p.Asn901=) n.421-37627C>T | ClinVar dbSNP COSMIC |
12 | g.6031561G>C | CA383518009 | VWF | c.2703C>G (p.Asn901Lys) n.421-37627C>G | |
12 | g.6031561G= | CA2013876787 | VWF | c.2703C= (p.Asn901=) n.421-37627C= | |
12 | g.6031561G>T | CA6402970 | VWF | c.2703C>A (p.Asn901Lys) n.421-37627C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031562T>A | CA383518035 | VWF | c.2702A>T (p.Asn901Ile) n.421-37628A>T | |
12 | g.6031562T>C | CA383518031 | VWF | c.2702A>G (p.Asn901Ser) n.421-37628A>G | |
12 | g.6031562T>G | CA383518026 | VWF | c.2702A>C (p.Asn901Thr) n.421-37628A>C | |
12 | g.6031563T>A | CA383518038 | VWF | c.2701A>T (p.Asn901Tyr) n.421-37629A>T | |
12 | g.6031563T>C | CA383518041 | VWF | c.2701A>G (p.Asn901Asp) n.421-37629A>G | |
12 | g.6031563T>G | CA383518042 | VWF | c.2701A>C (p.Asn901His) n.421-37629A>C | |
12 | g.6031564A= | CA2013876789 | VWF | c.2700T= (p.Ser900=) n.421-37630T= | |
12 | g.6031564A>C | CA383518049 | VWF | c.2700T>G (p.Ser900Arg) n.421-37630T>G | |
12 | g.6031564A>G | CA6402971 | VWF | c.2700T>C (p.Ser900=) n.421-37630T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031564A>T | CA383518054 | VWF | c.2700T>A (p.Ser900Arg) n.421-37630T>A | |
12 | g.6031565C>A | CA383518057 | VWF | c.2699G>T (p.Ser900Ile) n.421-37631G>T | |
12 | g.6031565C>G | CA383518060 | VWF | c.2699G>C (p.Ser900Thr) n.421-37631G>C | |
12 | g.6031565C>T | CA383518061 | VWF | c.2699G>A (p.Ser900Asn) n.421-37631G>A | COSMIC |
12 | g.6031566T>A | CA383518065 | VWF | c.2698A>T (p.Ser900Cys) n.421-37632A>T | |
12 | g.6031566T>C | CA6402972 | VWF | c.2698A>G (p.Ser900Gly) n.421-37632A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031566T>G | CA383518068 | VWF | c.2698A>C (p.Ser900Arg) n.421-37632A>C | |
12 | g.6031566T= | CA2013876792 | VWF | c.2698A= (p.Ser900=) n.421-37632A= | |
12 | g.6031567G>A | CA6402973 | VWF | c.2697C>T (p.Gly899=) n.421-37633C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031567G>C | CA6402974 | VWF | c.2697C>G (p.Gly899=) n.421-37633C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6031567G= | CA2013876796 | VWF | c.2697C= (p.Gly899=) n.421-37633C= | |
12 | g.6031567G>T | CA478102764 | VWF | c.2697C>A (p.Gly899=) n.421-37633C>A | |
12 | g.6031568C>A | CA383518078 | VWF | c.2696G>T (p.Gly899Val) n.421-37634G>T | |
12 | g.6031568C>G | CA383518084 | VWF | c.2696G>C (p.Gly899Ala) n.421-37634G>C | |
12 | g.6031568C>T | CA383518090 | VWF | c.2696G>A (p.Gly899Asp) n.421-37634G>A | gnomAD v4 |
12 | g.6031569C>A | CA383518092 | VWF | c.2695G>T (p.Gly899Cys) n.421-37635G>T | |
12 | g.6031569C= | CA2013876799 | VWF | c.2695G= (p.Gly899=) n.421-37635G= | |
12 | g.6031569C>G | CA383518093 | VWF | c.2695G>C (p.Gly899Arg) n.421-37635G>C | |
12 | g.6031569C>T | CA6402975 | VWF | c.2695G>A (p.Gly899Ser) n.421-37635G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031570G>A | CA6402976 | VWF | c.2694C>T (p.Cys898=) n.421-37636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6031570G>C | CA383518096 | VWF | c.2694C>G (p.Cys898Trp) n.421-37636C>G | |
12 | g.6031570G= | CA2013876803 | VWF | c.2694C= (p.Cys898=) n.421-37636C= | |
12 | g.6031570G>T | CA383518107 | VWF | c.2694C>A (p.Cys898Ter) n.421-37636C>A | |
12 | g.6031570_6031580delinsGCAGTAATCCT | CA2013876802 | VWF | c.2686-2_2694delinsAGGATTACTGC n.421-37646_421-37636delinsAGGATTACTGC |