Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51913187G>A | CA384897709 | ACVRL1 | c.192G>A (p.Trp64Ter) c.150G>A (p.Trp50Ter) c.103+652G>A (n.103+652G>A) | gnomAD v4 |
12 | g.51913187G>C | CA384897711 | ACVRL1 | c.192G>C (p.Trp64Cys) c.150G>C (p.Trp50Cys) c.103+652G>C (n.103+652G>C) | ClinVar dbSNP |
12 | g.51913187G= | CA2036267012 | ACVRL1 | c.192G= (p.Trp64=) c.150G= (p.Trp50=) c.103+652G= (n.103+652G=) | |
12 | g.51913187G>T | CA254373 | ACVRL1 | c.192G>T (p.Trp64Cys) c.150G>T (p.Trp50Cys) c.103+652G>T (n.103+652G>T) | ClinVar dbSNP gnomAD v4 |
12 | g.51913188T>A | CA384897713 | ACVRL1 | c.193T>A (p.Cys65Ser) c.151T>A (p.Cys51Ser) c.103+653T>A (n.103+653T>A) | ClinVar |
12 | g.51913188T>C | CA384897715 | ACVRL1 | c.193T>C (p.Cys65Arg) c.151T>C (p.Cys51Arg) c.103+653T>C (n.103+653T>C) | |
12 | g.51913188T>G | CA384897717 | ACVRL1 | c.193T>G (p.Cys65Gly) c.151T>G (p.Cys51Gly) c.103+653T>G (n.103+653T>G) | ClinVar dbSNP |
12 | g.51913188T= | CA2588340210 | ACVRL1 | c.193T= (p.Cys65=) c.151T= (p.Cys51=) c.103+653T= (n.103+653T=) | |
12 | g.51913189G>A | CA324720 | ACVRL1 | c.194G>A (p.Cys65Tyr) c.152G>A (p.Cys51Tyr) c.103+654G>A (n.103+654G>A) | ClinVar dbSNP |
12 | g.51913189G>C | CA384897720 | ACVRL1 | c.194G>C (p.Cys65Ser) c.152G>C (p.Cys51Ser) c.103+654G>C (n.103+654G>C) | |
12 | g.51913189G= | CA2036267015 | ACVRL1 | c.194G= (p.Cys65=) c.152G= (p.Cys51=) c.103+654G= (n.103+654G=) | |
12 | g.51913189G>T | CA384897722 | ACVRL1 | c.194G>T (p.Cys65Phe) c.152G>T (p.Cys51Phe) c.103+654G>T (n.103+654G>T) | gnomAD v4 |
12 | g.51913190C>A | CA384897723 | ACVRL1 | c.195C>A (p.Cys65Ter) c.153C>A (p.Cys51Ter) c.103+655C>A (n.103+655C>A) | |
12 | g.51913190C>G | CA384897725 | ACVRL1 | c.195C>G (p.Cys65Trp) c.153C>G (p.Cys51Trp) c.103+655C>G (n.103+655C>G) | |
12 | g.51913190C>T | CA480063114 | ACVRL1 | c.195C>T (p.Cys65=) c.153C>T (p.Cys51=) c.103+655C>T (n.103+655C>T) | |
12 | g.51913191A= | CA2036267018 | ACVRL1 | c.196A= (p.Thr66=) c.154A= (p.Thr52=) c.103+656A= (n.103+656A=) | |
12 | g.51913191A>C | CA384897726 | ACVRL1 | c.196A>C (p.Thr66Pro) c.154A>C (p.Thr52Pro) c.103+656A>C (n.103+656A>C) | ClinVar |
12 | g.51913191A>G | CA384897738 | ACVRL1 | c.196A>G (p.Thr66Ala) c.154A>G (p.Thr52Ala) c.103+656A>G (n.103+656A>G) | ClinVar dbSNP |
12 | g.51913191A>T | CA384897727 | ACVRL1 | c.196A>T (p.Thr66Ser) c.154A>T (p.Thr52Ser) c.103+656A>T (n.103+656A>T) | |
12 | g.51913192del | CA2695216670 | ACVRL1 | c.197del (p.Thr66LysfsTer2) c.155del (p.Thr52LysfsTer2) c.103+657del (n.103+657del) | |
12 | g.51913192C>A | CA384897742 | ACVRL1 | c.197C>A (p.Thr66Lys) c.155C>A (p.Thr52Lys) c.103+657C>A (n.103+657C>A) | |
12 | g.51913192C>G | CA384897745 | ACVRL1 | c.197C>G (p.Thr66Arg) c.155C>G (p.Thr52Arg) c.103+657C>G (n.103+657C>G) | |
12 | g.51913192C>T | CA384897743 | ACVRL1 | c.197C>T (p.Thr66Ile) c.155C>T (p.Thr52Ile) c.103+657C>T (n.103+657C>T) | gnomAD v4 |
12 | g.51913193A= | CA2036267021 | ACVRL1 | c.198A= (p.Thr66=) c.156A= (p.Thr52=) c.103+658A= (n.103+658A=) | |
12 | g.51913193A>C | CA480063121 | ACVRL1 | c.198A>C (p.Thr66=) c.156A>C (p.Thr52=) c.103+658A>C (n.103+658A>C) | |
12 | g.51913193A>G | CA480063119 | ACVRL1 | c.198A>G (p.Thr66=) c.156A>G (p.Thr52=) c.103+658A>G (n.103+658A>G) | dbSNP |
12 | g.51913193A>T | CA480063118 | ACVRL1 | c.198A>T (p.Thr66=) c.156A>T (p.Thr52=) c.103+658A>T (n.103+658A>T) | |
12 | g.51913196_51913198del | CA1139767800 | ACVRL1 | c.201_203del (p.Val68del) c.159_161del (p.Val54del) c.103+661_103+663del (n.103+661_103+663del) | ClinVar |
12 | g.51913194G>A | CA384897747 | ACVRL1 | c.199G>A (p.Val67Ile) c.157G>A (p.Val53Ile) c.103+659G>A (n.103+659G>A) | |
12 | g.51913194G>C | CA6572825 | ACVRL1 | c.199G>C (p.Val67Leu) c.157G>C (p.Val53Leu) c.103+659G>C (n.103+659G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51913194G= | CA2036267023 | ACVRL1 | c.199G= (p.Val67=) c.157G= (p.Val53=) c.103+659G= (n.103+659G=) | |
12 | g.51913194G>T | CA384897748 | ACVRL1 | c.199G>T (p.Val67Leu) c.157G>T (p.Val53Leu) c.103+659G>T (n.103+659G>T) | gnomAD v4 |
12 | g.51913195T>A | CA384897750 | ACVRL1 | c.200T>A (p.Val67Glu) c.158T>A (p.Val53Glu) c.103+660T>A (n.103+660T>A) | |
12 | g.51913195T>C | CA384897754 | ACVRL1 | c.200T>C (p.Val67Ala) c.158T>C (p.Val53Ala) c.103+660T>C (n.103+660T>C) | ClinVar |
12 | g.51913195T>G | CA384897752 | ACVRL1 | c.200T>G (p.Val67Gly) c.158T>G (p.Val53Gly) c.103+660T>G (n.103+660T>G) | |
12 | g.51913196A>C | CA480063123 | ACVRL1 | c.201A>C (p.Val67=) c.159A>C (p.Val53=) c.103+661A>C (n.103+661A>C) | |
12 | g.51913196A>G | CA480063125 | ACVRL1 | c.201A>G (p.Val67=) c.159A>G (p.Val53=) c.103+661A>G (n.103+661A>G) | |
12 | g.51913196A>T | CA480063124 | ACVRL1 | c.201A>T (p.Val67=) c.159A>T (p.Val53=) c.103+661A>T (n.103+661A>T) | |
12 | g.51913197G>A | CA6572826 | ACVRL1 | c.202G>A (p.Val68Met) c.160G>A (p.Val54Met) c.103+662G>A (n.103+662G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51913197G>C | CA384897756 | ACVRL1 | c.202G>C (p.Val68Leu) c.160G>C (p.Val54Leu) c.103+662G>C (n.103+662G>C) | |
12 | g.51913197G= | CA2036267026 | ACVRL1 | c.202G= (p.Val68=) c.160G= (p.Val54=) c.103+662G= (n.103+662G=) | |
12 | g.51913197G>T | CA384897758 | ACVRL1 | c.202G>T (p.Val68Leu) c.160G>T (p.Val54Leu) c.103+662G>T (n.103+662G>T) | gnomAD v4 |
12 | g.51913201_51913206del | CA2695216671 | ACVRL1 | c.206_211del (p.Leu69_Val70del) c.164_169del (p.Leu55_Val56del) c.103+666_103+671del (n.103+666_103+671del) | |
12 | g.51913198T>A | CA384897760 | ACVRL1 | c.203T>A (p.Val68Glu) c.161T>A (p.Val54Glu) c.103+663T>A (n.103+663T>A) | |
12 | g.51913198T>C | CA384897762 | ACVRL1 | c.203T>C (p.Val68Ala) c.161T>C (p.Val54Ala) c.103+663T>C (n.103+663T>C) | gnomAD v4 |
12 | g.51913198T>G | CA384897763 | ACVRL1 | c.203T>G (p.Val68Gly) c.161T>G (p.Val54Gly) c.103+663T>G (n.103+663T>G) | |
12 | g.51913199G>A | CA480063127 | ACVRL1 | c.204G>A (p.Val68=) c.162G>A (p.Val54=) c.103+664G>A (n.103+664G>A) | |
12 | g.51913199G>C | CA480063128 | ACVRL1 | c.204G>C (p.Val68=) c.162G>C (p.Val54=) c.103+664G>C (n.103+664G>C) | |
12 | g.51913199G>T | CA480063129 | ACVRL1 | c.204G>T (p.Val68=) c.162G>T (p.Val54=) c.103+664G>T (n.103+664G>T) | |
12 | g.51913200C>A | CA384897766 | ACVRL1 | c.205C>A (p.Leu69Met) c.163C>A (p.Leu55Met) c.103+665C>A (n.103+665C>A) |