| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6022006A= | CA2013874114 | VWF | c.3568T= (p.Cys1190=) n.421-28072T= | |
| 12 | g.6022006A>C | CA383510977 | VWF | c.3568T>G (p.Cys1190Gly) n.421-28072T>G | |
| 12 | g.6022006A>G | CA228423 | VWF | c.3568T>C (p.Cys1190Arg) n.421-28072T>C | ClinVar dbSNP |
| 12 | g.6022006A>T | CA383510976 | VWF | c.3568T>A (p.Cys1190Ser) n.421-28072T>A | |
| 12 | g.6022007G>A | CA478101280 | VWF | c.3567C>T (p.Thr1189=) n.421-28073C>T | |
| 12 | g.6022007G>C | CA478101281 | VWF | c.3567C>G (p.Thr1189=) n.421-28073C>G | |
| 12 | g.6022007G>T | CA478101282 | VWF | c.3567C>A (p.Thr1189=) n.421-28073C>A | |
| 12 | g.6022008G>A | CA383510978 | VWF | c.3566C>T (p.Thr1189Ile) n.421-28074C>T | |
| 12 | g.6022008G>C | CA383510979 | VWF | c.3566C>G (p.Thr1189Ser) n.421-28074C>G | |
| 12 | g.6022008G= | CA2013874115 | VWF | c.3566C= (p.Thr1189=) n.421-28074C= | |
| 12 | g.6022008G>T | CA383510980 | VWF | c.3566C>A (p.Thr1189Asn) n.421-28074C>A | dbSNP |
| 12 | g.6022009T>A | CA383510981 | VWF | c.3565A>T (p.Thr1189Ser) n.421-28075A>T | |
| 12 | g.6022009T>C | CA383510982 | VWF | c.3565A>G (p.Thr1189Ala) n.421-28075A>G | |
| 12 | g.6022009T>G | CA383510983 | VWF | c.3565A>C (p.Thr1189Pro) n.421-28075A>C | dbSNP |
| 12 | g.6022009T= | CA2013874116 | VWF | c.3565A= (p.Thr1189=) n.421-28075A= | |
| 12 | g.6022010C>A | CA383510984 | VWF | c.3564G>T (p.Gln1188His) n.421-28076G>T | gnomAD v4 |
| 12 | g.6022010C>G | CA383510985 | VWF | c.3564G>C (p.Gln1188His) n.421-28076G>C | |
| 12 | g.6022010C>T | CA478101283 | VWF | c.3564G>A (p.Gln1188=) n.421-28076G>A | |
| 12 | g.6022011T>A | CA383510986 | VWF | c.3563A>T (p.Gln1188Leu) n.421-28077A>T | |
| 12 | g.6022011T>C | CA383510987 | VWF | c.3563A>G (p.Gln1188Arg) n.421-28077A>G | |
| 12 | g.6022011T>G | CA383510988 | VWF | c.3563A>C (p.Gln1188Pro) n.421-28077A>C | |
| 12 | g.6022012G>A | CA383510989 | VWF | c.3562C>T (p.Gln1188Ter) n.421-28078C>T | |
| 12 | g.6022012G>C | CA383510990 | VWF | c.3562C>G (p.Gln1188Glu) n.421-28078C>G | |
| 12 | g.6022012G= | CA2013874117 | VWF | c.3562C= (p.Gln1188=) n.421-28078C= | |
| 12 | g.6022012G>T | CA6402736 | VWF | c.3562C>A (p.Gln1188Lys) n.421-28078C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6022013C>A | CA383510992 | VWF | c.3561G>T (p.Leu1187Phe) n.421-28079G>T | |
| 12 | g.6022013C>G | CA383510991 | VWF | c.3561G>C (p.Leu1187Phe) n.421-28079G>C | |
| 12 | g.6022013C>T | CA478101284 | VWF | c.3561G>A (p.Leu1187=) n.421-28079G>A | |
| 12 | g.6022014A>C | CA383510993 | VWF | c.3560T>G (p.Leu1187Trp) n.421-28080T>G | |
| 12 | g.6022014A>G | CA383510995 | VWF | c.3560T>C (p.Leu1187Ser) n.421-28080T>C | gnomAD v4 |
| 12 | g.6022014A>T | CA383510994 | VWF | c.3560T>A (p.Leu1187Ter) n.421-28080T>A | |
| 12 | g.6022017del | CA2580612141 | VWF | c.3560del (p.Leu1187CysfsTer28) n.421-28080del | |
| 12 | g.6022015A>C | CA383510996 | VWF | c.3559T>G (p.Leu1187Val) n.421-28081T>G | |
| 12 | g.6022015A>G | CA478101285 | VWF | c.3559T>C (p.Leu1187=) n.421-28081T>C | |
| 12 | g.6022015A>T | CA383510997 | VWF | c.3559T>A (p.Leu1187Met) n.421-28081T>A | |
| 12 | g.6022016A= | CA2013874118 | VWF | c.3558T= (p.Leu1186=) n.421-28082T= | |
| 12 | g.6022016A>C | CA6402737 | VWF | c.3558T>G (p.Leu1186=) n.421-28082T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6022016A>G | CA478101286 | VWF | c.3558T>C (p.Leu1186=) n.421-28082T>C | |
| 12 | g.6022016A>T | CA478101287 | VWF | c.3558T>A (p.Leu1186=) n.421-28082T>A | |
| 12 | g.6022017A>C | CA383510999 | VWF | c.3557T>G (p.Leu1186Arg) n.421-28083T>G | |
| 12 | g.6022017A>G | CA383510998 | VWF | c.3557T>C (p.Leu1186Pro) n.421-28083T>C | |
| 12 | g.6022017A>T | CA383511001 | VWF | c.3557T>A (p.Leu1186His) n.421-28083T>A | |
| 12 | g.6022018G>A | CA383511004 | VWF | c.3556C>T (p.Leu1186Phe) n.421-28084C>T | |
| 12 | g.6022018G>C | CA383511005 | VWF | c.3556C>G (p.Leu1186Val) n.421-28084C>G | |
| 12 | g.6022018G>T | CA383511007 | VWF | c.3556C>A (p.Leu1186Ile) n.421-28084C>A | |
| 12 | g.6022019C>A | CA383511009 | VWF | c.3555G>T (p.Glu1185Asp) n.421-28085G>T | |
| 12 | g.6022019C>G | CA383511011 | VWF | c.3555G>C (p.Glu1185Asp) n.421-28085G>C | |
| 12 | g.6022019C>T | CA478101288 | VWF | c.3555G>A (p.Glu1185=) n.421-28085G>A | gnomAD v4 |
| 12 | g.6022020T>A | CA383511014 | VWF | c.3554A>T (p.Glu1185Val) n.421-28086A>T | |
| 12 | g.6022020T>C | CA383511016 | VWF | c.3554A>G (p.Glu1185Gly) n.421-28086A>G |