Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018397_6018423del | CA2617229996 | VWF | c.5003_5029del (p.Arg1668_Gln1676del) n.421-24481_421-24455del | gnomAD v4 |
12 | g.6018401C>A | CA383498492 | VWF | c.5017G>T (p.Glu1673Ter) n.421-24467G>T | |
12 | g.6018401C= | CA2013872498 | VWF | c.5017G= (p.Glu1673=) n.421-24467G= | |
12 | g.6018401C>G | CA383498493 | VWF | c.5017G>C (p.Glu1673Gln) n.421-24467G>C | |
12 | g.6018401C>T | CA6402423 | VWF | c.5017G>A (p.Glu1673Lys) n.421-24467G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018402T>A | CA478493961 | VWF | c.5016A>T (p.Gly1672=) n.421-24468A>T | |
12 | g.6018402T>C | CA478493960 | VWF | c.5016A>G (p.Gly1672=) n.421-24468A>G | gnomAD v4 |
12 | g.6018402T>G | CA478493959 | VWF | c.5016A>C (p.Gly1672=) n.421-24468A>C | |
12 | g.6018403C>A | CA383498494 | VWF | c.5015G>T (p.Gly1672Val) n.421-24469G>T | |
12 | g.6018403C>G | CA383498495 | VWF | c.5015G>C (p.Gly1672Ala) n.421-24469G>C | gnomAD v4 |
12 | g.6018403C>T | CA383498496 | VWF | c.5015G>A (p.Gly1672Glu) n.421-24469G>A | gnomAD v4 |
12 | g.6018404C>A | CA383498497 | VWF | c.5014G>T (p.Gly1672Ter) n.421-24470G>T | gnomAD v4 |
12 | g.6018404C= | CA2013872499 | VWF | c.5014G= (p.Gly1672=) n.421-24470G= | |
12 | g.6018404C>G | CA383498498 | VWF | c.5014G>C (p.Gly1672Arg) n.421-24470G>C | |
12 | g.6018404C>T | CA228696 | VWF | c.5014G>A (p.Gly1672Arg) n.421-24470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018405G>A | CA6402424 | VWF | c.5013C>T (p.Ser1671=) n.421-24471C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018405G>C | CA478493962 | VWF | c.5013C>G (p.Ser1671=) n.421-24471C>G | |
12 | g.6018405G= | CA2013872500 | VWF | c.5013C= (p.Ser1671=) n.421-24471C= | |
12 | g.6018405G>T | CA478493963 | VWF | c.5013C>A (p.Ser1671=) n.421-24471C>A | gnomAD v4 |
12 | g.6018406G>A | CA383498499 | VWF | c.5012C>T (p.Ser1671Phe) n.421-24472C>T | |
12 | g.6018406G>C | CA383498500 | VWF | c.5012C>G (p.Ser1671Cys) n.421-24472C>G | |
12 | g.6018406G>T | CA383498501 | VWF | c.5012C>A (p.Ser1671Tyr) n.421-24472C>A | gnomAD v4 COSMIC |
12 | g.6018407A>C | CA383498502 | VWF | c.5011T>G (p.Ser1671Ala) n.421-24473T>G | |
12 | g.6018407A>G | CA383498503 | VWF | c.5011T>C (p.Ser1671Pro) n.421-24473T>C | gnomAD v4 |
12 | g.6018407A>T | CA383498504 | VWF | c.5011T>A (p.Ser1671Thr) n.421-24473T>A | |
12 | g.6018408G>A | CA478493964 | VWF | c.5010C>T (p.Cys1670=) n.421-24474C>T | |
12 | g.6018408G>C | CA383498505 | VWF | c.5010C>G (p.Cys1670Trp) n.421-24474C>G | |
12 | g.6018408G>T | CA383498506 | VWF | c.5010C>A (p.Cys1670Ter) n.421-24474C>A | |
12 | g.6018409C>A | CA383498507 | VWF | c.5009G>T (p.Cys1670Phe) n.421-24475G>T | gnomAD v4 |
12 | g.6018409C= | CA2013872501 | VWF | c.5009G= (p.Cys1670=) n.421-24475G= | |
12 | g.6018409C>G | CA6402425 | VWF | c.5009G>C (p.Cys1670Ser) n.421-24475G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6018409C>T | CA383498508 | VWF | c.5009G>A (p.Cys1670Tyr) n.421-24475G>A | gnomAD v4 |
12 | g.6018410A>C | CA383498509 | VWF | c.5008T>G (p.Cys1670Gly) n.421-24476T>G | |
12 | g.6018410A>G | CA383498510 | VWF | c.5008T>C (p.Cys1670Arg) n.421-24476T>C | gnomAD v4 |
12 | g.6018410A>T | CA383498511 | VWF | c.5008T>A (p.Cys1670Ser) n.421-24476T>A | |
12 | g.6018411G>A | CA478493965 | VWF | c.5007C>T (p.Cys1669=) n.421-24477C>T | COSMIC |
12 | g.6018411G>C | CA383498512 | VWF | c.5007C>G (p.Cys1669Trp) n.421-24477C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018411G= | CA2013872502 | VWF | c.5007C= (p.Cys1669=) n.421-24477C= | |
12 | g.6018411G>T | CA383498513 | VWF | c.5007C>A (p.Cys1669Ter) n.421-24477C>A | gnomAD v4 |
12 | g.6018412C>A | CA383498514 | VWF | c.5006G>T (p.Cys1669Phe) n.421-24478G>T | |
12 | g.6018412C>G | CA383498515 | VWF | c.5006G>C (p.Cys1669Ser) n.421-24478G>C | gnomAD v4 |
12 | g.6018412C>T | CA383498516 | VWF | c.5006G>A (p.Cys1669Tyr) n.421-24478G>A | |
12 | g.6018413A>C | CA383498519 | VWF | c.5005T>G (p.Cys1669Gly) n.421-24479T>G | |
12 | g.6018413A>G | CA383498518 | VWF | c.5005T>C (p.Cys1669Arg) n.421-24479T>C | |
12 | g.6018413A>T | CA383498517 | VWF | c.5005T>A (p.Cys1669Ser) n.421-24479T>A | |
12 | g.6018414C>A | CA228694 | VWF | c.5004G>T (p.Arg1668Ser) n.421-24480G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018414C= | CA2013872503 | VWF | c.5004G= (p.Arg1668=) n.421-24480G= | |
12 | g.6018414C>G | CA383498520 | VWF | c.5004G>C (p.Arg1668Ser) n.421-24480G>C | |
12 | g.6018414C>T | CA6402426 | VWF | c.5004G>A (p.Arg1668=) n.421-24480G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018415C>A | CA383498521 | VWF | c.5003G>T (p.Arg1668Met) n.421-24481G>T |