| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6019396C>A | CA228518 | VWF | c.4022G>T (p.Arg1341Leu) n.421-25462G>T | ClinVar dbSNP |
| 12 | g.6019396C= | CA2013872956 | VWF | c.4022G= (p.Arg1341=) n.421-25462G= | |
| 12 | g.6019396C>G | CA228516 | VWF | c.4022G>C (p.Arg1341Pro) n.421-25462G>C | ClinVar dbSNP |
| 12 | g.6019396C>T | CA114129 | VWF | c.4022G>A (p.Arg1341Gln) n.421-25462G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019397G>A | CA228514 | VWF | c.4021C>T (p.Arg1341Trp) n.421-25463C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019397G>C | CA383505741 | VWF | c.4021C>G (p.Arg1341Gly) n.421-25463C>G | |
| 12 | g.6019397G= | CA2013872957 | VWF | c.4021C= (p.Arg1341=) n.421-25463C= | |
| 12 | g.6019397G>T | CA478502373 | VWF | c.4021C>A (p.Arg1341=) n.421-25463C>A | |
| 12 | g.6019398C>A | CA478502374 | VWF | c.4020G>T (p.Leu1340=) n.421-25464G>T | |
| 12 | g.6019398C>G | CA478502375 | VWF | c.4020G>C (p.Leu1340=) n.421-25464G>C | |
| 12 | g.6019398C>T | CA478502376 | VWF | c.4020G>A (p.Leu1340=) n.421-25464G>A | |
| 12 | g.6019399A>C | CA383505742 | VWF | c.4019T>G (p.Leu1340Arg) n.421-25465T>G | |
| 12 | g.6019399A>G | CA383505745 | VWF | c.4019T>C (p.Leu1340Pro) n.421-25465T>C | ClinVar |
| 12 | g.6019399A>T | CA383505747 | VWF | c.4019T>A (p.Leu1340Gln) n.421-25465T>A | |
| 12 | g.6019400G>A | CA478502377 | VWF | c.4018C>T (p.Leu1340=) n.421-25466C>T | |
| 12 | g.6019400G>C | CA383505750 | VWF | c.4018C>G (p.Leu1340Val) n.421-25466C>G | |
| 12 | g.6019400G>T | CA383505752 | VWF | c.4018C>A (p.Leu1340Met) n.421-25466C>A | |
| 12 | g.6019401C>A | CA383505754 | VWF | c.4017G>T (p.Glu1339Asp) n.421-25467G>T | |
| 12 | g.6019401C= | CA2013872958 | VWF | c.4017G= (p.Glu1339=) n.421-25467G= | |
| 12 | g.6019401C>G | CA383505756 | VWF | c.4017G>C (p.Glu1339Asp) n.421-25467G>C | ClinVar |
| 12 | g.6019401C>T | CA232297773 | VWF | c.4017G>A (p.Glu1339=) n.421-25467G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019402T>A | CA383505760 | VWF | c.4016A>T (p.Glu1339Val) n.421-25468A>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019402T>C | CA383505758 | VWF | c.4016A>G (p.Glu1339Gly) n.421-25468A>G | |
| 12 | g.6019402T>G | CA383505759 | VWF | c.4016A>C (p.Glu1339Ala) n.421-25468A>C | |
| 12 | g.6019402T= | CA2013872959 | VWF | c.4016A= (p.Glu1339=) n.421-25468A= | |
| 12 | g.6019403C>A | CA383505763 | VWF | c.4015G>T (p.Glu1339Ter) n.421-25469G>T | |
| 12 | g.6019403C>G | CA383505765 | VWF | c.4015G>C (p.Glu1339Gln) n.421-25469G>C | |
| 12 | g.6019403C>T | CA383505766 | VWF | c.4015G>A (p.Glu1339Lys) n.421-25469G>A | |
| 12 | g.6019404T>A | CA478502381 | VWF | c.4014A>T (p.Ser1338=) n.421-25470A>T | |
| 12 | g.6019404T>C | CA478502380 | VWF | c.4014A>G (p.Ser1338=) n.421-25470A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019404T>G | CA478502379 | VWF | c.4014A>C (p.Ser1338=) n.421-25470A>C | |
| 12 | g.6019404T= | CA2013872960 | VWF | c.4014A= (p.Ser1338=) n.421-25470A= | |
| 12 | g.6019405G>A | CA383505768 | VWF | c.4013C>T (p.Ser1338Leu) n.421-25471C>T | COSMIC |
| 12 | g.6019405G>C | CA228512 | VWF | c.4013C>G (p.Ser1338Ter) n.421-25471C>G | ClinVar dbSNP |
| 12 | g.6019405G= | CA2013872961 | VWF | c.4013C= (p.Ser1338=) n.421-25471C= | |
| 12 | g.6019405G>T | CA383505770 | VWF | c.4013C>A (p.Ser1338Ter) n.421-25471C>A | |
| 12 | g.6019406A= | CA2013872962 | VWF | c.4012T= (p.Ser1338=) n.421-25472T= | |
| 12 | g.6019406A>C | CA6402624 | VWF | c.4012T>G (p.Ser1338Ala) n.421-25472T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6019406A>G | CA383505773 | VWF | c.4012T>C (p.Ser1338Pro) n.421-25472T>C | |
| 12 | g.6019406A>T | CA383505776 | VWF | c.4012T>A (p.Ser1338Thr) n.421-25472T>A | dbSNP |
| 12 | g.6019407C>A | CA478502382 | VWF | c.4011G>T (p.Pro1337=) n.421-25473G>T | |
| 12 | g.6019407C= | CA2013872963 | VWF | c.4011G= (p.Pro1337=) n.421-25473G= | |
| 12 | g.6019407C>G | CA478502383 | VWF | c.4011G>C (p.Pro1337=) n.421-25473G>C | |
| 12 | g.6019407C>T | CA6402625 | VWF | c.4011G>A (p.Pro1337=) n.421-25473G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.6019408G>A | CA228510 | VWF | c.4010C>T (p.Pro1337Leu) n.421-25474C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.6019408G>C | CA383505781 | VWF | c.4010C>G (p.Pro1337Arg) n.421-25474C>G | |
| 12 | g.6019408G= | CA2013872964 | VWF | c.4010C= (p.Pro1337=) n.421-25474C= | |
| 12 | g.6019408G>T | CA383505783 | VWF | c.4010C>A (p.Pro1337Gln) n.421-25474C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6019409G>A | CA383505788 | VWF | c.4009C>T (p.Pro1337Ser) n.421-25475C>T | gnomAD v4 |
| 12 | g.6019409G>C | CA383505790 | VWF | c.4009C>G (p.Pro1337Ala) n.421-25475C>G |