Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6036388C>A | CA6403043 | VWF | c.2546G>T (p.Cys849Phe) n.421-42454G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036388C= | CA2013880908 | VWF | c.2546G= (p.Cys849=) n.421-42454G= | |
12 | g.6036388C>G | CA383520271 | VWF | c.2546G>C (p.Cys849Ser) n.421-42454G>C | |
12 | g.6036388C>T | CA383520272 | VWF | c.2546G>A (p.Cys849Tyr) n.421-42454G>A | ClinVar dbSNP |
12 | g.6036389A>C | CA383520273 | VWF | c.2545T>G (p.Cys849Gly) n.421-42455T>G | |
12 | g.6036389A>G | CA383520274 | VWF | c.2545T>C (p.Cys849Arg) n.421-42455T>C | |
12 | g.6036389A>T | CA383520275 | VWF | c.2545T>A (p.Cys849Ser) n.421-42455T>A | |
12 | g.6036390del | CA2695215958 | VWF | c.2545del (p.Cys849ValfsTer?) n.421-42455del | |
12 | g.6036390A= | CA2013880909 | VWF | c.2544T= (p.Thr848=) n.421-42456T= | |
12 | g.6036390A>C | CA478103075 | VWF | c.2544T>G (p.Thr848=) n.421-42456T>G | |
12 | g.6036390A>G | CA478103076 | VWF | c.2544T>C (p.Thr848=) n.421-42456T>C | dbSNP gnomAD v4 |
12 | g.6036390A>T | CA478103077 | VWF | c.2544T>A (p.Thr848=) n.421-42456T>A | |
12 | g.6036391G>A | CA383520276 | VWF | c.2543C>T (p.Thr848Ile) n.421-42457C>T | |
12 | g.6036391G>C | CA383520277 | VWF | c.2543C>G (p.Thr848Ser) n.421-42457C>G | |
12 | g.6036391G>T | CA383520278 | VWF | c.2543C>A (p.Thr848Asn) n.421-42457C>A | |
12 | g.6036392T>A | CA383520279 | VWF | c.2542A>T (p.Thr848Ser) n.421-42458A>T | |
12 | g.6036392T>C | CA383520280 | VWF | c.2542A>G (p.Thr848Ala) n.421-42458A>G | |
12 | g.6036392T>G | CA383520281 | VWF | c.2542A>C (p.Thr848Pro) n.421-42458A>C | gnomAD v4 |
12 | g.6036393G>A | CA478103078 | VWF | c.2541C>T (p.Asn847=) n.421-42459C>T | gnomAD v4 |
12 | g.6036393G>C | CA383520282 | VWF | c.2541C>G (p.Asn847Lys) n.421-42459C>G | |
12 | g.6036393G= | CA2013880910 | VWF | c.2541C= (p.Asn847=) n.421-42459C= | |
12 | g.6036393G>T | CA383520283 | VWF | c.2541C>A (p.Asn847Lys) n.421-42459C>A | |
12 | g.6036394T>A | CA383520284 | VWF | c.2540A>T (p.Asn847Ile) n.421-42460A>T | |
12 | g.6036394T>C | CA6403044 | VWF | c.2540A>G (p.Asn847Ser) n.421-42460A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6036394T>G | CA383520285 | VWF | c.2540A>C (p.Asn847Thr) n.421-42460A>C | |
12 | g.6036394T= | CA2013880911 | VWF | c.2540A= (p.Asn847=) n.421-42460A= | |
12 | g.6036395dup | CA228350 | VWF | c.2540dup (p.Asn847LysfsTer18) n.421-42460dup | ClinVar dbSNP |
12 | g.6036395T>A | CA383520286 | VWF | c.2539A>T (p.Asn847Tyr) n.421-42461A>T | |
12 | g.6036395T>C | CA383520287 | VWF | c.2539A>G (p.Asn847Asp) n.421-42461A>G | |
12 | g.6036395T>G | CA383520288 | VWF | c.2539A>C (p.Asn847His) n.421-42461A>C | |
12 | g.6036396G>A | CA478103083 | VWF | c.2538C>T (p.Cys846=) n.421-42462C>T | |
12 | g.6036396G>C | CA383520289 | VWF | c.2538C>G (p.Cys846Trp) n.421-42462C>G | |
12 | g.6036396G>T | CA383520290 | VWF | c.2538C>A (p.Cys846Ter) n.421-42462C>A | |
12 | g.6036397C>A | CA383520291 | VWF | c.2537G>T (p.Cys846Phe) n.421-42463G>T | gnomAD v4 |
12 | g.6036397C>G | CA383520292 | VWF | c.2537G>C (p.Cys846Ser) n.421-42463G>C | |
12 | g.6036397C>T | CA383520293 | VWF | c.2537G>A (p.Cys846Tyr) n.421-42463G>A | |
12 | g.6036398A= | CA2013880912 | VWF | c.2536T= (p.Cys846=) n.421-42464T= | |
12 | g.6036398A>C | CA6403045 | VWF | c.2536T>G (p.Cys846Gly) n.421-42464T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036398A>G | CA383520295 | VWF | c.2536T>C (p.Cys846Arg) n.421-42464T>C | gnomAD v4 |
12 | g.6036398A>T | CA383520294 | VWF | c.2536T>A (p.Cys846Ser) n.421-42464T>A | gnomAD v4 |
12 | g.6036399G>A | CA232299460 | VWF | c.2535C>T (p.Gly845=) n.421-42465C>T | dbSNP gnomAD v4 |
12 | g.6036399G>C | CA478103088 | VWF | c.2535C>G (p.Gly845=) n.421-42465C>G | |
12 | g.6036399G= | CA2013880913 | VWF | c.2535C= (p.Gly845=) n.421-42465C= | |
12 | g.6036399G>T | CA478103089 | VWF | c.2535C>A (p.Gly845=) n.421-42465C>A | |
12 | g.6036400C>A | CA383520298 | VWF | c.2534G>T (p.Gly845Val) n.421-42466G>T | |
12 | g.6036400C= | CA2013880914 | VWF | c.2534G= (p.Gly845=) n.421-42466G= | |
12 | g.6036400C>G | CA383520296 | VWF | c.2534G>C (p.Gly845Ala) n.421-42466G>C | |
12 | g.6036400C>T | CA383520297 | VWF | c.2534G>A (p.Gly845Asp) n.421-42466G>A | dbSNP gnomAD v2 |
12 | g.6036401C>A | CA383520299 | VWF | c.2533G>T (p.Gly845Cys) n.421-42467G>T | |
12 | g.6036401C>G | CA383520300 | VWF | c.2533G>C (p.Gly845Arg) n.421-42467G>C |