Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6036409A= | CA2013880918 | VWF | c.2525T= (p.Val842=) n.421-42475T= | |
12 | g.6036409A>C | CA383520316 | VWF | c.2525T>G (p.Val842Gly) n.421-42475T>G | |
12 | g.6036409A>G | CA383520317 | VWF | c.2525T>C (p.Val842Ala) n.421-42475T>C | |
12 | g.6036409A>T | CA6403046 | VWF | c.2525T>A (p.Val842Glu) n.421-42475T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036410C>A | CA383520318 | VWF | c.2524G>T (p.Val842Leu) n.421-42476G>T | |
12 | g.6036410C= | CA2013880919 | VWF | c.2524G= (p.Val842=) n.421-42476G= | |
12 | g.6036410C>G | CA383520319 | VWF | c.2524G>C (p.Val842Leu) n.421-42476G>C | |
12 | g.6036410C>T | CA6403047 | VWF | c.2524G>A (p.Val842Met) n.421-42476G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036411del | CA2617231479 | VWF | c.2523del (p.Val842Ter) n.421-42477del | gnomAD v4 |
12 | g.6036411T>A | CA478103105 | VWF | c.2523A>T (p.Thr841=) n.421-42477A>T | |
12 | g.6036411T>C | CA478103106 | VWF | c.2523A>G (p.Thr841=) n.421-42477A>G | gnomAD v4 |
12 | g.6036411T>G | CA478103107 | VWF | c.2523A>C (p.Thr841=) n.421-42477A>C | |
12 | g.6036412G>A | CA383520320 | VWF | c.2522C>T (p.Thr841Ile) n.421-42478C>T | gnomAD v4 |
12 | g.6036412G>C | CA383520321 | VWF | c.2522C>G (p.Thr841Arg) n.421-42478C>G | dbSNP gnomAD v4 |
12 | g.6036412G= | CA2013880920 | VWF | c.2522C= (p.Thr841=) n.421-42478C= | |
12 | g.6036412G>T | CA383520322 | VWF | c.2522C>A (p.Thr841Lys) n.421-42478C>A | |
12 | g.6036413T>A | CA383520324 | VWF | c.2521A>T (p.Thr841Ser) n.421-42479A>T | |
12 | g.6036413T>C | CA383520325 | VWF | c.2521A>G (p.Thr841Ala) n.421-42479A>G | gnomAD v4 |
12 | g.6036413T>G | CA383520323 | VWF | c.2521A>C (p.Thr841Pro) n.421-42479A>C | |
12 | g.6036414T>A | CA383520326 | VWF | c.2520A>T (p.Glu840Asp) n.421-42480A>T | |
12 | g.6036414T>C | CA478103111 | VWF | c.2520A>G (p.Glu840=) n.421-42480A>G | |
12 | g.6036414T>G | CA383520327 | VWF | c.2520A>C (p.Glu840Asp) n.421-42480A>C | |
12 | g.6036415T>A | CA383520328 | VWF | c.2519A>T (p.Glu840Val) n.421-42481A>T | |
12 | g.6036415T>C | CA383520329 | VWF | c.2519A>G (p.Glu840Gly) n.421-42481A>G | |
12 | g.6036415T>G | CA383520330 | VWF | c.2519A>C (p.Glu840Ala) n.421-42481A>C | |
12 | g.6036416C>A | CA383520331 | VWF | c.2518G>T (p.Glu840Ter) n.421-42482G>T | COSMIC |
12 | g.6036416C>G | CA383520332 | VWF | c.2518G>C (p.Glu840Gln) n.421-42482G>C | |
12 | g.6036416C>T | CA383520333 | VWF | c.2518G>A (p.Glu840Lys) n.421-42482G>A | |
12 | g.6036417T>A | CA478103115 | VWF | c.2517A>T (p.Gly839=) n.421-42483A>T | |
12 | g.6036417T>C | CA478103116 | VWF | c.2517A>G (p.Gly839=) n.421-42483A>G | |
12 | g.6036417T>G | CA478103117 | VWF | c.2517A>C (p.Gly839=) n.421-42483A>C | |
12 | g.6036417_6036418delinsTC | CA2013880921 | VWF | c.2516_2517delinsGA (p.Gly839=) n.421-42484_421-42483delinsGA | |
12 | g.6036418C>A | CA383520335 | VWF | c.2516G>T (p.Gly839Val) n.421-42484G>T | |
12 | g.6036418C= | CA2013880922 | VWF | c.2516G= (p.Gly839=) n.421-42484G= | |
12 | g.6036418C>G | CA383520334 | VWF | c.2516G>C (p.Gly839Ala) n.421-42484G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6036418C>T | CA383520336 | VWF | c.2516G>A (p.Gly839Glu) n.421-42484G>A | gnomAD v4 |
12 | g.6036419del | CA228347 | VWF | c.2516del (p.Gly839GlufsTer4) n.421-42484del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036419C>A | CA383520337 | VWF | c.2515G>T (p.Gly839Ter) n.421-42485G>T | |
12 | g.6036419C= | CA2013880923 | VWF | c.2515G= (p.Gly839=) n.421-42485G= | |
12 | g.6036419C>G | CA383520338 | VWF | c.2515G>C (p.Gly839Arg) n.421-42485G>C | |
12 | g.6036419C>T | CA383520339 | VWF | c.2515G>A (p.Gly839Arg) n.421-42485G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036420A>C | CA478103120 | VWF | c.2514T>G (p.Pro838=) n.421-42486T>G | |
12 | g.6036420A>G | CA478103118 | VWF | c.2514T>C (p.Pro838=) n.421-42486T>C | dbSNP |
12 | g.6036420A>T | CA478103119 | VWF | c.2514T>A (p.Pro838=) n.421-42486T>A | |
12 | g.6036421G>A | CA6403048 | VWF | c.2513C>T (p.Pro838Leu) n.421-42487C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036421G>C | CA383520340 | VWF | c.2513C>G (p.Pro838Arg) n.421-42487C>G | |
12 | g.6036421G= | CA2013880924 | VWF | c.2513C= (p.Pro838=) n.421-42487C= | |
12 | g.6036421G>T | CA383520341 | VWF | c.2513C>A (p.Pro838His) n.421-42487C>A | |
12 | g.6036422G>A | CA383520344 | VWF | c.2512C>T (p.Pro838Ser) n.421-42488C>T | dbSNP gnomAD v4 |
12 | g.6036422G>C | CA383520343 | VWF | c.2512C>G (p.Pro838Ala) n.421-42488C>G |