| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018581A= | CA2013872582 | VWF | c.4837T= (p.Ser1613=) n.421-24647T= | |
| 12 | g.6018581A>C | CA383498953 | VWF | c.4837T>G (p.Ser1613Ala) n.421-24647T>G | |
| 12 | g.6018581A>G | CA114131 | VWF | c.4837T>C (p.Ser1613Pro) n.421-24647T>C | ClinVar dbSNP |
| 12 | g.6018581A>T | CA383498957 | VWF | c.4837T>A (p.Ser1613Thr) n.421-24647T>A | |
| 12 | g.6018582G>A | CA6402450 | VWF | c.4836C>T (p.Ala1612=) n.421-24648C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018582G>C | CA478501884 | VWF | c.4836C>G (p.Ala1612=) n.421-24648C>G | |
| 12 | g.6018582G= | CA2013872583 | VWF | c.4836C= (p.Ala1612=) n.421-24648C= | |
| 12 | g.6018582G>T | CA478501882 | VWF | c.4836C>A (p.Ala1612=) n.421-24648C>A | |
| 12 | g.6018583G>A | CA6402451 | VWF | c.4835C>T (p.Ala1612Val) n.421-24649C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018583G>C | CA383498966 | VWF | c.4835C>G (p.Ala1612Gly) n.421-24649C>G | |
| 12 | g.6018583G= | CA2013872584 | VWF | c.4835C= (p.Ala1612=) n.421-24649C= | |
| 12 | g.6018583G>T | CA383498969 | VWF | c.4835C>A (p.Ala1612Asp) n.421-24649C>A | |
| 12 | g.6018584C>A | CA383498976 | VWF | c.4834G>T (p.Ala1612Ser) n.421-24650G>T | |
| 12 | g.6018584C= | CA2013872585 | VWF | c.4834G= (p.Ala1612=) n.421-24650G= | |
| 12 | g.6018584C>G | CA383498979 | VWF | c.4834G>C (p.Ala1612Pro) n.421-24650G>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.6018584C>T | CA383498983 | VWF | c.4834G>A (p.Ala1612Thr) n.421-24650G>A | |
| 12 | g.6018585A>C | CA478501892 | VWF | c.4833T>G (p.Pro1611=) n.421-24651T>G | |
| 12 | g.6018585A>G | CA478501893 | VWF | c.4833T>C (p.Pro1611=) n.421-24651T>C | |
| 12 | g.6018585A>T | CA478501894 | VWF | c.4833T>A (p.Pro1611=) n.421-24651T>A | |
| 12 | g.6018586G>A | CA383498992 | VWF | c.4832C>T (p.Pro1611Leu) n.421-24652C>T | |
| 12 | g.6018586G>C | CA383498986 | VWF | c.4832C>G (p.Pro1611Arg) n.421-24652C>G | |
| 12 | g.6018586G>T | CA383498989 | VWF | c.4832C>A (p.Pro1611His) n.421-24652C>A | |
| 12 | g.6018587G>A | CA383498995 | VWF | c.4831C>T (p.Pro1611Ser) n.421-24653C>T | |
| 12 | g.6018587G>C | CA383498998 | VWF | c.4831C>G (p.Pro1611Ala) n.421-24653C>G | |
| 12 | g.6018587G= | CA2013872586 | VWF | c.4831C= (p.Pro1611=) n.421-24653C= | |
| 12 | g.6018587G>T | CA383499000 | VWF | c.4831C>A (p.Pro1611Thr) n.421-24653C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018588A= | CA2013872587 | VWF | c.4830T= (p.Asn1610=) n.421-24654T= | |
| 12 | g.6018588A>C | CA383499003 | VWF | c.4830T>G (p.Asn1610Lys) n.421-24654T>G | |
| 12 | g.6018588A>G | CA478501898 | VWF | c.4830T>C (p.Asn1610=) n.421-24654T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018588A>T | CA383499010 | VWF | c.4830T>A (p.Asn1610Lys) n.421-24654T>A | |
| 12 | g.6018589T>A | CA383499013 | VWF | c.4829A>T (p.Asn1610Ile) n.421-24655A>T | |
| 12 | g.6018589T>C | CA383499017 | VWF | c.4829A>G (p.Asn1610Ser) n.421-24655A>G | |
| 12 | g.6018589T>G | CA383499020 | VWF | c.4829A>C (p.Asn1610Thr) n.421-24655A>C | |
| 12 | g.6018590T>A | CA383499021 | VWF | c.4828A>T (p.Asn1610Tyr) n.421-24656A>T | |
| 12 | g.6018590T>C | CA383499023 | VWF | c.4828A>G (p.Asn1610Asp) n.421-24656A>G | |
| 12 | g.6018590T>G | CA383499027 | VWF | c.4828A>C (p.Asn1610His) n.421-24656A>C | |
| 12 | g.6018591T>A | CA478501906 | VWF | c.4827A>T (p.Gly1609=) n.421-24657A>T | |
| 12 | g.6018591T>C | CA478501908 | VWF | c.4827A>G (p.Gly1609=) n.421-24657A>G | |
| 12 | g.6018591T>G | CA478501909 | VWF | c.4827A>C (p.Gly1609=) n.421-24657A>C | |
| 12 | g.6018592C>A | CA383499035 | VWF | c.4826G>T (p.Gly1609Val) n.421-24658G>T | |
| 12 | g.6018592C>G | CA383499033 | VWF | c.4826G>C (p.Gly1609Ala) n.421-24658G>C | |
| 12 | g.6018592C>T | CA383499032 | VWF | c.4826G>A (p.Gly1609Glu) n.421-24658G>A | |
| 12 | g.6018593del | CA2617230156 | VWF | c.4826del (p.Gly1609GlufsTer?) n.421-24658del | gnomAD v4 |
| 12 | g.6018593C>A | CA383499040 | VWF | c.4825G>T (p.Gly1609Ter) n.421-24659G>T | |
| 12 | g.6018593C= | CA2013872588 | VWF | c.4825G= (p.Gly1609=) n.421-24659G= | |
| 12 | g.6018593C>G | CA383499042 | VWF | c.4825G>C (p.Gly1609Arg) n.421-24659G>C | |
| 12 | g.6018593C>T | CA228665 | VWF | c.4825G>A (p.Gly1609Arg) n.421-24659G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018594G>A | CA6402453 | VWF | c.4824C>T (p.Thr1608=) n.421-24660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018594G>C | CA6402452 | VWF | c.4824C>G (p.Thr1608=) n.421-24660C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018594G= | CA2013872589 | VWF | c.4824C= (p.Thr1608=) n.421-24660C= |