Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.6778528C>A | CA509817885 | BMP2 | c.630C>A (p.Thr210=) c.162C>A (p.Thr54=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778528C= | CA2348112153 | BMP2 | c.630C= (p.Thr210=) c.162C= (p.Thr54=) | |
20 | g.6778528C>G | CA509817886 | BMP2 | c.630C>G (p.Thr210=) c.162C>G (p.Thr54=) | |
20 | g.6778528C>T | CA10587357 | BMP2 | c.630C>T (p.Thr210=) c.162C>T (p.Thr54=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778529C>A | CA408258768 | BMP2 | c.631C>A (p.Pro211Thr) c.163C>A (p.Pro55Thr) | |
20 | g.6778529C>G | CA408258766 | BMP2 | c.631C>G (p.Pro211Ala) c.163C>G (p.Pro55Ala) | gnomAD v4 |
20 | g.6778529C>T | CA408258767 | BMP2 | c.631C>T (p.Pro211Ser) c.163C>T (p.Pro55Ser) | |
20 | g.6778530C>A | CA408258769 | BMP2 | c.632C>A (p.Pro211His) c.164C>A (p.Pro55His) | |
20 | g.6778530C= | CA2348112154 | BMP2 | c.632C= (p.Pro211=) c.164C= (p.Pro55=) | |
20 | g.6778530C>G | CA408258770 | BMP2 | c.632C>G (p.Pro211Arg) c.164C>G (p.Pro55Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.6778530C>T | CA408258771 | BMP2 | c.632C>T (p.Pro211Leu) c.164C>T (p.Pro55Leu) | |
20 | g.6778531C>A | CA509818015 | BMP2 | c.633C>A (p.Pro211=) c.165C>A (p.Pro55=) | |
20 | g.6778531C= | CA2348112155 | BMP2 | c.633C= (p.Pro211=) c.165C= (p.Pro55=) | |
20 | g.6778531C>G | CA9758717 | BMP2 | c.633C>G (p.Pro211=) c.165C>G (p.Pro55=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778531C>T | CA9758716 | BMP2 | c.633C>T (p.Pro211=) c.165C>T (p.Pro55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.6778532G>A | CA9758719 | BMP2 | c.634G>A (p.Ala212Thr) c.166G>A (p.Ala56Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.6778532G>C | CA9758718 | BMP2 | c.634G>C (p.Ala212Pro) c.166G>C (p.Ala56Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778532G= | CA2348112156 | BMP2 | c.634G= (p.Ala212=) c.166G= (p.Ala56=) | |
20 | g.6778532G>T | CA408258772 | BMP2 | c.634G>T (p.Ala212Ser) c.166G>T (p.Ala56Ser) | dbSNP gnomAD v4 |
20 | g.6778533C>A | CA408258773 | BMP2 | c.635C>A (p.Ala212Asp) c.167C>A (p.Ala56Asp) | |
20 | g.6778533C>G | CA408258774 | BMP2 | c.635C>G (p.Ala212Gly) c.167C>G (p.Ala56Gly) | |
20 | g.6778533C>T | CA408258775 | BMP2 | c.635C>T (p.Ala212Val) c.167C>T (p.Ala56Val) | |
20 | g.6778534T>A | CA509818018 | BMP2 | c.636T>A (p.Ala212=) c.168T>A (p.Ala56=) | |
20 | g.6778534T>C | CA9758720 | BMP2 | c.636T>C (p.Ala212=) c.168T>C (p.Ala56=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778534T>G | CA509818019 | BMP2 | c.636T>G (p.Ala212=) c.168T>G (p.Ala56=) | gnomAD v4 |
20 | g.6778534T= | CA2348112157 | BMP2 | c.636T= (p.Ala212=) c.168T= (p.Ala56=) | |
20 | g.6778535G>A | CA408258776 | BMP2 | c.637G>A (p.Val213Met) c.169G>A (p.Val57Met) | |
20 | g.6778535G>C | CA408258777 | BMP2 | c.637G>C (p.Val213Leu) c.169G>C (p.Val57Leu) | |
20 | g.6778535G>T | CA408258778 | BMP2 | c.637G>T (p.Val213Leu) c.169G>T (p.Val57Leu) | gnomAD v4 |
20 | g.6778536T>A | CA408258779 | BMP2 | c.638T>A (p.Val213Glu) c.170T>A (p.Val57Glu) | |
20 | g.6778536T>C | CA408258780 | BMP2 | c.638T>C (p.Val213Ala) c.170T>C (p.Val57Ala) | |
20 | g.6778536T>G | CA408258781 | BMP2 | c.638T>G (p.Val213Gly) c.170T>G (p.Val57Gly) | |
20 | g.6778537G>A | CA509818022 | BMP2 | c.639G>A (p.Val213=) c.171G>A (p.Val57=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.6778537G>C | CA9758721 | BMP2 | c.639G>C (p.Val213=) c.171G>C (p.Val57=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778537G= | CA2348112158 | BMP2 | c.639G= (p.Val213=) c.171G= (p.Val57=) | |
20 | g.6778537G>T | CA509818024 | BMP2 | c.639G>T (p.Val213=) c.171G>T (p.Val57=) | |
20 | g.6778538A= | CA2348112159 | BMP2 | c.640A= (p.Met214=) c.172A= (p.Met58=) | |
20 | g.6778538A>C | CA408258782 | BMP2 | c.640A>C (p.Met214Leu) c.172A>C (p.Met58Leu) | |
20 | g.6778538A>G | CA408258783 | BMP2 | c.640A>G (p.Met214Val) c.172A>G (p.Met58Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.6778538A>T | CA408258784 | BMP2 | c.640A>T (p.Met214Leu) c.172A>T (p.Met58Leu) | |
20 | g.6778539T>A | CA408258785 | BMP2 | c.641T>A (p.Met214Lys) c.173T>A (p.Met58Lys) | |
20 | g.6778539T>C | CA408258786 | BMP2 | c.641T>C (p.Met214Thr) c.173T>C (p.Met58Thr) | |
20 | g.6778539T>G | CA408258787 | BMP2 | c.641T>G (p.Met214Arg) c.173T>G (p.Met58Arg) | |
20 | g.6778540G>A | CA9758722 | BMP2 | c.642G>A (p.Met214Ile) c.174G>A (p.Met58Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.6778540G>C | CA408258789 | BMP2 | c.642G>C (p.Met214Ile) c.174G>C (p.Met58Ile) | gnomAD v4 |
20 | g.6778540G= | CA2348112160 | BMP2 | c.642G= (p.Met214=) c.174G= (p.Met58=) | |
20 | g.6778540G>T | CA408258788 | BMP2 | c.642G>T (p.Met214Ile) c.174G>T (p.Met58Ile) | |
20 | g.6778541C>A | CA509818026 | BMP2 | c.643C>A (p.Arg215=) c.175C>A (p.Arg59=) | dbSNP |
20 | g.6778541C= | CA2348112161 | BMP2 | c.643C= (p.Arg215=) c.175C= (p.Arg59=) | |
20 | g.6778541C>G | CA408258790 | BMP2 | c.643C>G (p.Arg215Gly) c.175C>G (p.Arg59Gly) |