| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.118108274_118110927del | CA916081523 | EXT1 | c.124_962+1815del c.73+51_73+2704del (n.73+51_73+2704del) | ClinVar |
| 8 | g.118109691_118110512del | CA2499219105 | EXT1 | c.540_962+399del c.73+467_73+1288del (n.73+467_73+1288del) | ClinVar dbSNP |
| 8 | g.118110095C>A | CA371914678 | EXT1 | c.952G>T (p.Glu318Ter) c.320G>T c.73+879G>T (n.73+879G>T) | |
| 8 | g.118110095C>G | CA371914679 | EXT1 | c.952G>C (p.Glu318Gln) c.320G>C c.73+879G>C (n.73+879G>C) | gnomAD v4 |
| 8 | g.118110095C>T | CA371914680 | EXT1 | c.952G>A (p.Glu318Lys) c.320G>A c.73+879G>A (n.73+879G>A) | |
| 8 | g.118110096G>A | CA462471425 | EXT1 | c.951C>T (p.Thr317=) c.319C>T c.73+878C>T (n.73+878C>T) | dbSNP gnomAD v4 |
| 8 | g.118110096G>C | CA462471426 | EXT1 | c.951C>G (p.Thr317=) c.319C>G c.73+878C>G (n.73+878C>G) | dbSNP gnomAD v4 |
| 8 | g.118110096G= | CA1814088351 | EXT1 | c.951C= (p.Thr317=) c.319C= c.73+878C= (n.73+878C=) | |
| 8 | g.118110096G>T | CA462471427 | EXT1 | c.951C>A (p.Thr317=) c.319C>A c.73+878C>A (n.73+878C>A) | dbSNP |
| 8 | g.118110097G>A | CA371914681 | EXT1 | c.950C>T (p.Thr317Ile) c.318C>T c.73+877C>T (n.73+877C>T) | dbSNP |
| 8 | g.118110097G>C | CA4854299 | EXT1 | c.950C>G (p.Thr317Ser) c.318C>G c.73+877C>G (n.73+877C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110097G= | CA1814088353 | EXT1 | c.950C= (p.Thr317=) c.318C= c.73+877C= (n.73+877C=) | |
| 8 | g.118110097G>T | CA371914682 | EXT1 | c.950C>A (p.Thr317Asn) c.318C>A c.73+877C>A (n.73+877C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110098del | CA2697550118 | EXT1 | c.949del (p.Thr317ProfsTer?) c.317del c.73+876del (n.73+876del) | ClinVar |
| 8 | g.118110098T>A | CA371914685 | EXT1 | c.949A>T (p.Thr317Ser) c.317A>T c.73+876A>T (n.73+876A>T) | |
| 8 | g.118110098T>C | CA371914683 | EXT1 | c.949A>G (p.Thr317Ala) c.317A>G c.73+876A>G (n.73+876A>G) | |
| 8 | g.118110098T>G | CA371914684 | EXT1 | c.949A>C (p.Thr317Pro) c.317A>C c.73+876A>C (n.73+876A>C) | |
| 8 | g.118110099G>A | CA462471428 | EXT1 | c.948C>T (p.Asn316=) c.316C>T c.73+875C>T (n.73+875C>T) | dbSNP |
| 8 | g.118110099G>C | CA371914686 | EXT1 | c.948C>G (p.Asn316Lys) c.316C>G c.73+875C>G (n.73+875C>G) | |
| 8 | g.118110099G>T | CA371914687 | EXT1 | c.948C>A (p.Asn316Lys) c.316C>A c.73+875C>A (n.73+875C>A) | |
| 8 | g.118110100T>A | CA371914688 | EXT1 | c.947A>T (p.Asn316Ile) c.315A>T c.73+874A>T (n.73+874A>T) | |
| 8 | g.118110100T>C | CA371914689 | EXT1 | c.947A>G (p.Asn316Ser) c.315A>G c.73+874A>G (n.73+874A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110100T>G | CA371914690 | EXT1 | c.947A>C (p.Asn316Thr) c.315A>C c.73+874A>C (n.73+874A>C) | |
| 8 | g.118110100T= | CA1814088355 | EXT1 | c.947A= (p.Asn316=) c.315A= c.73+874A= (n.73+874A=) | |
| 8 | g.118110101T>A | CA371914691 | EXT1 | c.946A>T (p.Asn316Tyr) c.314A>T c.73+873A>T (n.73+873A>T) | |
| 8 | g.118110101T>C | CA371914692 | EXT1 | c.946A>G (p.Asn316Asp) c.314A>G c.73+873A>G (n.73+873A>G) | gnomAD v4 |
| 8 | g.118110101T>G | CA371914693 | EXT1 | c.946A>C (p.Asn316His) c.314A>C c.73+873A>C (n.73+873A>C) | |
| 8 | g.118110102G>A | CA462471429 | EXT1 | c.945C>T (p.Asp315=) c.313C>T c.73+872C>T (n.73+872C>T) | dbSNP |
| 8 | g.118110102G>C | CA371914694 | EXT1 | c.945C>G (p.Asp315Glu) c.313C>G c.73+872C>G (n.73+872C>G) | |
| 8 | g.118110102G= | CA1814088357 | EXT1 | c.945C= (p.Asp315=) c.313C= c.73+872C= (n.73+872C=) | |
| 8 | g.118110102G>T | CA371914695 | EXT1 | c.945C>A (p.Asp315Glu) c.313C>A c.73+872C>A (n.73+872C>A) | |
| 8 | g.118110103T>A | CA371914698 | EXT1 | c.944A>T (p.Asp315Val) c.312A>T c.73+871A>T (n.73+871A>T) | |
| 8 | g.118110103T>C | CA371914697 | EXT1 | c.944A>G (p.Asp315Gly) c.312A>G c.73+871A>G (n.73+871A>G) | |
| 8 | g.118110103T>G | CA371914696 | EXT1 | c.944A>C (p.Asp315Ala) c.312A>C c.73+871A>C (n.73+871A>C) | |
| 8 | g.118110106_118110107del | CA2548052743 | EXT1 | c.943_944del (p.Asp315GlnfsTer5) c.311_312del c.73+870_73+871del (n.73+870_73+871del) | |
| 8 | g.118110104C>A | CA371914699 | EXT1 | c.943G>T (p.Asp315Tyr) c.311G>T c.73+870G>T (n.73+870G>T) | |
| 8 | g.118110104C= | CA1814088359 | EXT1 | c.943G= (p.Asp315=) c.311G= c.73+870G= (n.73+870G=) | |
| 8 | g.118110104C>G | CA371914700 | EXT1 | c.943G>C (p.Asp315His) c.311G>C c.73+870G>C (n.73+870G>C) | |
| 8 | g.118110104C>T | CA371914701 | EXT1 | c.943G>A (p.Asp315Asn) c.311G>A c.73+870G>A (n.73+870G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110105T>A | CA371914702 | EXT1 | c.942A>T (p.Arg314Ser) c.310A>T c.73+869A>T (n.73+869A>T) | |
| 8 | g.118110105T>C | CA462471431 | EXT1 | c.942A>G (p.Arg314=) c.310A>G c.73+869A>G (n.73+869A>G) | |
| 8 | g.118110105T>G | CA371914703 | EXT1 | c.942A>C (p.Arg314Ser) c.310A>C c.73+869A>C (n.73+869A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110105T= | CA1814088361 | EXT1 | c.942A= (p.Arg314=) c.310A= c.73+869A= (n.73+869A=) | |
| 8 | g.118110106C>A | CA371914704 | EXT1 | c.941G>T (p.Arg314Ile) c.309G>T c.73+868G>T (n.73+868G>T) | |
| 8 | g.118110106C>G | CA371914705 | EXT1 | c.941G>C (p.Arg314Thr) c.309G>C c.73+868G>C (n.73+868G>C) | dbSNP |
| 8 | g.118110106C>T | CA371914706 | EXT1 | c.941G>A (p.Arg314Lys) c.309G>A c.73+868G>A (n.73+868G>A) | |
| 8 | g.118110107T>A | CA371914707 | EXT1 | c.940A>T (p.Arg314Ter) c.308A>T c.73+867A>T (n.73+867A>T) | |
| 8 | g.118110107T>C | CA371914708 | EXT1 | c.940A>G (p.Arg314Gly) c.308A>G c.73+867A>G (n.73+867A>G) | |
| 8 | g.118110107T>G | CA462471432 | EXT1 | c.940A>C (p.Arg314=) c.308A>C c.73+867A>C (n.73+867A>C) | |
| 8 | g.118110108G>A | CA462471433 | EXT1 | c.939C>T (p.Asp313=) c.307C>T c.73+866C>T (n.73+866C>T) | dbSNP gnomAD v2 gnomAD v4 |