| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6044348A= | CA1630855466 | VWF | c.2385T= (p.Tyr795=) n.421-50414T= | |
| 12 | g.6044348A>C | CA383522074 | VWF | c.2385T>G (p.Tyr795Ter) n.421-50414T>G | |
| 12 | g.6044348A>G | CA6403087 | VWF | c.2385T>C (p.Tyr795=) n.421-50414T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044348A>T | CA383522077 | VWF | c.2385T>A (p.Tyr795Ter) n.421-50414T>A | |
| 12 | g.6044349T>A | CA383522079 | VWF | c.2384A>T (p.Tyr795Phe) n.421-50415A>T | |
| 12 | g.6044349T>C | CA114166 | VWF | c.2384A>G (p.Tyr795Cys) n.421-50415A>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.6044349T>G | CA383522081 | VWF | c.2384A>C (p.Tyr795Ser) n.421-50415A>C | dbSNP |
| 12 | g.6044349T= | CA2013884558 | VWF | c.2384A= (p.Tyr795=) n.421-50415A= | |
| 12 | g.6044350A>C | CA383522083 | VWF | c.2383T>G (p.Tyr795Asp) n.421-50416T>G | |
| 12 | g.6044350A>G | CA383522085 | VWF | c.2383T>C (p.Tyr795His) n.421-50416T>C | gnomAD v4 |
| 12 | g.6044350A>T | CA383522087 | VWF | c.2383T>A (p.Tyr795Asn) n.421-50416T>A | |
| 12 | g.6044351G>A | CA478103326 | VWF | c.2382C>T (p.Asn794=) n.421-50417C>T | |
| 12 | g.6044351G>C | CA383522091 | VWF | c.2382C>G (p.Asn794Lys) n.421-50417C>G | |
| 12 | g.6044351G>T | CA383522089 | VWF | c.2382C>A (p.Asn794Lys) n.421-50417C>A | |
| 12 | g.6044352T>A | CA383522093 | VWF | c.2381A>T (p.Asn794Ile) n.421-50418A>T | |
| 12 | g.6044352T>C | CA383522096 | VWF | c.2381A>G (p.Asn794Ser) n.421-50418A>G | |
| 12 | g.6044352T>G | CA6403088 | VWF | c.2381A>C (p.Asn794Thr) n.421-50418A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044352T= | CA2013884559 | VWF | c.2381A= (p.Asn794=) n.421-50418A= | |
| 12 | g.6044353dup | CA645575765 | VWF | c.2381dup (p.Asn794LysfsTer3) n.421-50418dup | COSMIC |
| 12 | g.6044353T>A | CA383522098 | VWF | c.2380A>T (p.Asn794Tyr) n.421-50419A>T | |
| 12 | g.6044353T>C | CA383522102 | VWF | c.2380A>G (p.Asn794Asp) n.421-50419A>G | |
| 12 | g.6044353T>G | CA383522100 | VWF | c.2380A>C (p.Asn794His) n.421-50419A>C | |
| 12 | g.6044354C>A | CA383522104 | VWF | c.2379G>T (p.Gln793His) n.421-50420G>T | |
| 12 | g.6044354C>G | CA383522106 | VWF | c.2379G>C (p.Gln793His) n.421-50420G>C | |
| 12 | g.6044354C>T | CA478103328 | VWF | c.2379G>A (p.Gln793=) n.421-50420G>A | |
| 12 | g.6044355T>A | CA383522108 | VWF | c.2378A>T (p.Gln793Leu) n.421-50421A>T | |
| 12 | g.6044355T>C | CA383522110 | VWF | c.2378A>G (p.Gln793Arg) n.421-50421A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6044355T>G | CA383522111 | VWF | c.2378A>C (p.Gln793Pro) n.421-50421A>C | |
| 12 | g.6044355T= | CA2013884560 | VWF | c.2378A= (p.Gln793=) n.421-50421A= | |
| 12 | g.6044356G>A | CA383522113 | VWF | c.2377C>T (p.Gln793Ter) n.421-50422C>T | ClinVar dbSNP |
| 12 | g.6044356G>C | CA383522115 | VWF | c.2377C>G (p.Gln793Glu) n.421-50422C>G | |
| 12 | g.6044356G>T | CA383522117 | VWF | c.2377C>A (p.Gln793Lys) n.421-50422C>A | |
| 12 | g.6044357G>A | CA478103329 | VWF | c.2376C>T (p.Cys792=) n.421-50423C>T | |
| 12 | g.6044357G>C | CA383522119 | VWF | c.2376C>G (p.Cys792Trp) n.421-50423C>G | ClinVar dbSNP |
| 12 | g.6044357G>T | CA383522121 | VWF | c.2376C>A (p.Cys792Ter) n.421-50423C>A | |
| 12 | g.6044358C>A | CA383522123 | VWF | c.2375G>T (p.Cys792Phe) n.421-50424G>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6044358C= | CA2013884561 | VWF | c.2375G= (p.Cys792=) n.421-50424G= | |
| 12 | g.6044358C>G | CA383522125 | VWF | c.2375G>C (p.Cys792Ser) n.421-50424G>C | |
| 12 | g.6044358C>T | CA383522127 | VWF | c.2375G>A (p.Cys792Tyr) n.421-50424G>A | |
| 12 | g.6044359A>C | CA383522132 | VWF | c.2374T>G (p.Cys792Gly) n.421-50425T>G | |
| 12 | g.6044359A>G | CA383522130 | VWF | c.2374T>C (p.Cys792Arg) n.421-50425T>C | ClinVar |
| 12 | g.6044359A>T | CA383522129 | VWF | c.2374T>A (p.Cys792Ser) n.421-50425T>A | |
| 12 | g.6044360C>A | CA478103330 | VWF | c.2373G>T (p.Thr791=) n.421-50426G>T | |
| 12 | g.6044360C= | CA2013884562 | VWF | c.2373G= (p.Thr791=) n.421-50426G= | |
| 12 | g.6044360C>G | CA478103331 | VWF | c.2373G>C (p.Thr791=) n.421-50426G>C | |
| 12 | g.6044360C>T | CA478103332 | VWF | c.2373G>A (p.Thr791=) n.421-50426G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044361G>A | CA114135 | VWF | c.2372C>T (p.Thr791Met) n.421-50427C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6044361G>C | CA383522135 | VWF | c.2372C>G (p.Thr791Arg) n.421-50427C>G | |
| 12 | g.6044361G= | CA2013884563 | VWF | c.2372C= (p.Thr791=) n.421-50427C= | |
| 12 | g.6044361G>T | CA383522137 | VWF | c.2372C>A (p.Thr791Lys) n.421-50427C>A |