Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018505_6018526delinsCAAT | CA2695196767 | VWF | c.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp) n.421-24592_421-24571delinsATTG | |
12 | g.6018509G>A | CA383498716 | VWF | c.4909C>T (p.Gln1637Ter) n.421-24575C>T | |
12 | g.6018509G>C | CA383498717 | VWF | c.4909C>G (p.Gln1637Glu) n.421-24575C>G | |
12 | g.6018509G>T | CA383498718 | VWF | c.4909C>A (p.Gln1637Lys) n.421-24575C>A | gnomAD v4 |
12 | g.6018510C>A | CA478494028 | VWF | c.4908G>T (p.Val1636=) n.421-24576G>T | |
12 | g.6018510C>G | CA478494029 | VWF | c.4908G>C (p.Val1636=) n.421-24576G>C | |
12 | g.6018510C>T | CA478494030 | VWF | c.4908G>A (p.Val1636=) n.421-24576G>A | |
12 | g.6018511A= | CA2013872550 | VWF | c.4907T= (p.Val1636=) n.421-24577T= | |
12 | g.6018511A>C | CA383498719 | VWF | c.4907T>G (p.Val1636Gly) n.421-24577T>G | |
12 | g.6018511A>G | CA383498721 | VWF | c.4907T>C (p.Val1636Ala) n.421-24577T>C | gnomAD v4 |
12 | g.6018511A>T | CA383498720 | VWF | c.4907T>A (p.Val1636Glu) n.421-24577T>A | |
12 | g.6018512C>A | CA383498722 | VWF | c.4906G>T (p.Val1636Leu) n.421-24578G>T | |
12 | g.6018512C= | CA2013872551 | VWF | c.4906G= (p.Val1636=) n.421-24578G= | |
12 | g.6018512C>G | CA383498723 | VWF | c.4906G>C (p.Val1636Leu) n.421-24578G>C | gnomAD v4 |
12 | g.6018512C>T | CA6402441 | VWF | c.4906G>A (p.Val1636Met) n.421-24578G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018513G>A | CA6402442 | VWF | c.4905C>T (p.Asn1635=) n.421-24579C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018513G>C | CA383498724 | VWF | c.4905C>G (p.Asn1635Lys) n.421-24579C>G | |
12 | g.6018513G= | CA2013872552 | VWF | c.4905C= (p.Asn1635=) n.421-24579C= | |
12 | g.6018513G>T | CA383498725 | VWF | c.4905C>A (p.Asn1635Lys) n.421-24579C>A | |
12 | g.6018514T>A | CA6402443 | VWF | c.4904A>T (p.Asn1635Ile) n.421-24580A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018514T>C | CA383498726 | VWF | c.4904A>G (p.Asn1635Ser) n.421-24580A>G | |
12 | g.6018514T>G | CA383498727 | VWF | c.4904A>C (p.Asn1635Thr) n.421-24580A>C | |
12 | g.6018514T= | CA2013872553 | VWF | c.4904A= (p.Asn1635=) n.421-24580A= | |
12 | g.6018515T>A | CA383498728 | VWF | c.4903A>T (p.Asn1635Tyr) n.421-24581A>T | |
12 | g.6018515T>C | CA383498729 | VWF | c.4903A>G (p.Asn1635Asp) n.421-24581A>G | |
12 | g.6018515T>G | CA383498730 | VWF | c.4903A>C (p.Asn1635His) n.421-24581A>C | |
12 | g.6018516G>A | CA478494031 | VWF | c.4902C>T (p.Ala1634=) n.421-24582C>T | |
12 | g.6018516G>C | CA478494032 | VWF | c.4902C>G (p.Ala1634=) n.421-24582C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018516G= | CA2013872554 | VWF | c.4902C= (p.Ala1634=) n.421-24582C= | |
12 | g.6018516G>T | CA478494033 | VWF | c.4902C>A (p.Ala1634=) n.421-24582C>A | |
12 | g.6018517G>A | CA383498733 | VWF | c.4901C>T (p.Ala1634Val) n.421-24583C>T | gnomAD v4 |
12 | g.6018517G>C | CA383498731 | VWF | c.4901C>G (p.Ala1634Gly) n.421-24583C>G | |
12 | g.6018517G>T | CA383498732 | VWF | c.4901C>A (p.Ala1634Asp) n.421-24583C>A | |
12 | g.6018518C>A | CA383498734 | VWF | c.4900G>T (p.Ala1634Ser) n.421-24584G>T | |
12 | g.6018518C>G | CA383498735 | VWF | c.4900G>C (p.Ala1634Pro) n.421-24584G>C | |
12 | g.6018518C>T | CA383498736 | VWF | c.4900G>A (p.Ala1634Thr) n.421-24584G>A | |
12 | g.6018519A>C | CA383498737 | VWF | c.4899T>G (p.Asn1633Lys) n.421-24585T>G | |
12 | g.6018519A>G | CA478494034 | VWF | c.4899T>C (p.Asn1633=) n.421-24585T>C | |
12 | g.6018519A>T | CA383498738 | VWF | c.4899T>A (p.Asn1633Lys) n.421-24585T>A | |
12 | g.6018520T>A | CA383498739 | VWF | c.4898A>T (p.Asn1633Ile) n.421-24586A>T | |
12 | g.6018520T>C | CA383498740 | VWF | c.4898A>G (p.Asn1633Ser) n.421-24586A>G | |
12 | g.6018520T>G | CA383498741 | VWF | c.4898A>C (p.Asn1633Thr) n.421-24586A>C | gnomAD v4 |
12 | g.6018521T>A | CA383498742 | VWF | c.4897A>T (p.Asn1633Tyr) n.421-24587A>T | |
12 | g.6018521T>C | CA383498743 | VWF | c.4897A>G (p.Asn1633Asp) n.421-24587A>G | |
12 | g.6018521T>G | CA383498744 | VWF | c.4897A>C (p.Asn1633His) n.421-24587A>C | |
12 | g.6018522_6018536del | CA2695216026 | VWF | c.4883_4897del (p.Ile1628_Pro1632del) n.421-24601_421-24587del | |
12 | g.6018522A>C | CA478494035 | VWF | c.4896T>G (p.Pro1632=) n.421-24588T>G | |
12 | g.6018522A>G | CA478494036 | VWF | c.4896T>C (p.Pro1632=) n.421-24588T>C | |
12 | g.6018522A>T | CA478494037 | VWF | c.4896T>A (p.Pro1632=) n.421-24588T>A | |
12 | g.6018523G>A | CA383498747 | VWF | c.4895C>T (p.Pro1632Leu) n.421-24589C>T |