Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018383T>A | CA383498453 | VWF | c.5035A>T (p.Thr1679Ser) n.421-24449A>T | |
12 | g.6018383T>C | CA6402420 | VWF | c.5035A>G (p.Thr1679Ala) n.421-24449A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018383T>G | CA383498454 | VWF | c.5035A>C (p.Thr1679Pro) n.421-24449A>C | |
12 | g.6018383T= | CA2013872487 | VWF | c.5035A= (p.Thr1679=) n.421-24449A= | |
12 | g.6018384G>A | CA478493947 | VWF | c.5034C>T (p.Pro1678=) n.421-24450C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018384G>C | CA478493948 | VWF | c.5034C>G (p.Pro1678=) n.421-24450C>G | gnomAD v4 |
12 | g.6018384G= | CA2013872488 | VWF | c.5034C= (p.Pro1678=) n.421-24450C= | |
12 | g.6018384G>T | CA478493949 | VWF | c.5034C>A (p.Pro1678=) n.421-24450C>A | gnomAD v4 |
12 | g.6018387dup | CA2617229968 | VWF | c.5034dup (p.Thr1679HisfsTer7) n.421-24450dup | gnomAD v4 |
12 | g.6018387del | CA2617229966 | VWF | c.5034del (p.Thr1679ProfsTer14) n.421-24450del | gnomAD v4 |
12 | g.6018385G>A | CA383498455 | VWF | c.5033C>T (p.Pro1678Leu) n.421-24451C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018385G>C | CA383498456 | VWF | c.5033C>G (p.Pro1678Arg) n.421-24451C>G | |
12 | g.6018385G= | CA2013872489 | VWF | c.5033C= (p.Pro1678=) n.421-24451C= | |
12 | g.6018385G>T | CA383498457 | VWF | c.5033C>A (p.Pro1678His) n.421-24451C>A | |
12 | g.6018386G>A | CA383498458 | VWF | c.5032C>T (p.Pro1678Ser) n.421-24452C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018386G>C | CA383498459 | VWF | c.5032C>G (p.Pro1678Ala) n.421-24452C>G | |
12 | g.6018386G= | CA2013872490 | VWF | c.5032C= (p.Pro1678=) n.421-24452C= | |
12 | g.6018386G>T | CA383498460 | VWF | c.5032C>A (p.Pro1678Thr) n.421-24452C>A | gnomAD v4 |
12 | g.6018387G>A | CA6402421 | VWF | c.5031C>T (p.Ile1677=) n.421-24453C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018387G>C | CA383498461 | VWF | c.5031C>G (p.Ile1677Met) n.421-24453C>G | |
12 | g.6018387G= | CA2013872491 | VWF | c.5031C= (p.Ile1677=) n.421-24453C= | |
12 | g.6018387G>T | CA478493950 | VWF | c.5031C>A (p.Ile1677=) n.421-24453C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018388A>C | CA383498462 | VWF | c.5030T>G (p.Ile1677Ser) n.421-24454T>G | |
12 | g.6018388A>G | CA383498464 | VWF | c.5030T>C (p.Ile1677Thr) n.421-24454T>C | gnomAD v4 |
12 | g.6018388A>T | CA383498463 | VWF | c.5030T>A (p.Ile1677Asn) n.421-24454T>A | |
12 | g.6018389T>A | CA383498465 | VWF | c.5029A>T (p.Ile1677Phe) n.421-24455A>T | gnomAD v4 |
12 | g.6018389T>C | CA383498466 | VWF | c.5029A>G (p.Ile1677Val) n.421-24455A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018389T>G | CA383498467 | VWF | c.5029A>C (p.Ile1677Leu) n.421-24455A>C | |
12 | g.6018389T= | CA2013872492 | VWF | c.5029A= (p.Ile1677=) n.421-24455A= | |
12 | g.6018397_6018423del | CA2617229996 | VWF | c.5003_5029del (p.Arg1668_Gln1676del) n.421-24481_421-24455del | gnomAD v4 |
12 | g.6018390C>A | CA383498468 | VWF | c.5028G>T (p.Gln1676His) n.421-24456G>T | gnomAD v4 |
12 | g.6018390C>G | CA383498469 | VWF | c.5028G>C (p.Gln1676His) n.421-24456G>C | |
12 | g.6018390C>T | CA478493951 | VWF | c.5028G>A (p.Gln1676=) n.421-24456G>A | gnomAD v4 |
12 | g.6018391T>A | CA383498470 | VWF | c.5027A>T (p.Gln1676Leu) n.421-24457A>T | |
12 | g.6018391T>C | CA383498471 | VWF | c.5027A>G (p.Gln1676Arg) n.421-24457A>G | gnomAD v4 |
12 | g.6018391T>G | CA383498472 | VWF | c.5027A>C (p.Gln1676Pro) n.421-24457A>C | |
12 | g.6018392G>A | CA383498473 | VWF | c.5026C>T (p.Gln1676Ter) n.421-24458C>T | dbSNP gnomAD v4 |
12 | g.6018392G>C | CA383498475 | VWF | c.5026C>G (p.Gln1676Glu) n.421-24458C>G | |
12 | g.6018392G= | CA2013872493 | VWF | c.5026C= (p.Gln1676=) n.421-24458C= | |
12 | g.6018392G>T | CA383498474 | VWF | c.5026C>A (p.Gln1676Lys) n.421-24458C>A | gnomAD v4 |
12 | g.6018393C>A | CA478493952 | VWF | c.5025G>T (p.Leu1675=) n.421-24459G>T | |
12 | g.6018393C>G | CA478493953 | VWF | c.5025G>C (p.Leu1675=) n.421-24459G>C | |
12 | g.6018393C>T | CA478493954 | VWF | c.5025G>A (p.Leu1675=) n.421-24459G>A | dbSNP gnomAD v4 |
12 | g.6018394A>C | CA383498476 | VWF | c.5024T>G (p.Leu1675Arg) n.421-24460T>G | |
12 | g.6018394A>G | CA383498477 | VWF | c.5024T>C (p.Leu1675Pro) n.421-24460T>C | |
12 | g.6018394A>T | CA383498478 | VWF | c.5024T>A (p.Leu1675Gln) n.421-24460T>A | |
12 | g.6018394_6018395delinsAG | CA2013872494 | VWF | c.5023_5024delinsCT (p.Leu1675=) n.421-24461_421-24460delinsCT | |
12 | g.6018394_6018395delinsTA | CA228698 | VWF | c.5023_5024delinsTA (p.Leu1675Ter) n.421-24461_421-24460delinsTA | ClinVar dbSNP |
12 | g.6018395G>A | CA6402422 | VWF | c.5023C>T (p.Leu1675=) n.421-24461C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018395G>C | CA383498480 | VWF | c.5023C>G (p.Leu1675Val) n.421-24461C>G |