Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018504C>A | CA383498706 | VWF | c.4914G>T (p.Glu1638Asp) n.421-24570G>T | gnomAD v4 |
12 | g.6018504C>G | CA383498705 | VWF | c.4914G>C (p.Glu1638Asp) n.421-24570G>C | gnomAD v4 |
12 | g.6018504C>T | CA478494026 | VWF | c.4914G>A (p.Glu1638=) n.421-24570G>A | |
12 | g.6018505T>A | CA383498707 | VWF | c.4913A>T (p.Glu1638Val) n.421-24571A>T | |
12 | g.6018505T>C | CA383498708 | VWF | c.4913A>G (p.Glu1638Gly) n.421-24571A>G | |
12 | g.6018505T>G | CA383498709 | VWF | c.4913A>C (p.Glu1638Ala) n.421-24571A>C | |
12 | g.6018505_6018526delinsCAAT | CA2695196767 | VWF | c.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp) n.421-24592_421-24571delinsATTG | |
12 | g.6018506C>A | CA383498710 | VWF | c.4912G>T (p.Glu1638Ter) n.421-24572G>T | |
12 | g.6018506C= | CA2013872549 | VWF | c.4912G= (p.Glu1638=) n.421-24572G= | |
12 | g.6018506C>G | CA232297755 | VWF | c.4912G>C (p.Glu1638Gln) n.421-24572G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018506C>T | CA228676 | VWF | c.4912G>A (p.Glu1638Lys) n.421-24572G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6018507C>A | CA383498712 | VWF | c.4911G>T (p.Gln1637His) n.421-24573G>T | |
12 | g.6018507C>G | CA383498711 | VWF | c.4911G>C (p.Gln1637His) n.421-24573G>C | |
12 | g.6018507C>T | CA478494027 | VWF | c.4911G>A (p.Gln1637=) n.421-24573G>A | |
12 | g.6018508T>A | CA383498713 | VWF | c.4910A>T (p.Gln1637Leu) n.421-24574A>T | |
12 | g.6018508T>C | CA383498714 | VWF | c.4910A>G (p.Gln1637Arg) n.421-24574A>G | |
12 | g.6018508T>G | CA383498715 | VWF | c.4910A>C (p.Gln1637Pro) n.421-24574A>C | gnomAD v4 |
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 |