Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202532684G>A | CA350341903 | BMPR2 | c.1228G>A (p.Gly410Arg) c.1159G>A (p.Gly387Arg) | ClinVar dbSNP |
2 | g.202532684G>C | CA350341904 | BMPR2 | c.1228G>C (p.Gly410Arg) c.1159G>C (p.Gly387Arg) | ClinVar dbSNP |
2 | g.202532684G= | CA1321545679 | BMPR2 | c.1228G= (p.Gly410=) c.1159G= (p.Gly387=) | |
2 | g.202532684G>T | CA350341905 | BMPR2 | c.1228G>T (p.Gly410Ter) c.1159G>T (p.Gly387Ter) | |
2 | g.202532687_202532700del | CA2586971102 | BMPR2 | c.1231_1244del (p.Leu411AspfsTer?) c.1162_1175del (p.Leu388AspfsTer?) | |
2 | g.202532685G>A | CA350341906 | BMPR2 | c.1229G>A (p.Gly410Glu) c.1160G>A (p.Gly387Glu) | |
2 | g.202532685G>C | CA350341907 | BMPR2 | c.1229G>C (p.Gly410Ala) c.1160G>C (p.Gly387Ala) | |
2 | g.202532685G= | CA1321545680 | BMPR2 | c.1229G= (p.Gly410=) c.1160G= (p.Gly387=) | |
2 | g.202532685G>T | CA350341908 | BMPR2 | c.1229G>T (p.Gly410Val) c.1160G>T (p.Gly387Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202532686A>C | CA430849803 | BMPR2 | c.1230A>C (p.Gly410=) c.1161A>C (p.Gly387=) | |
2 | g.202532686A>G | CA430849810 | BMPR2 | c.1230A>G (p.Gly410=) c.1161A>G (p.Gly387=) | |
2 | g.202532686A>T | CA430849806 | BMPR2 | c.1230A>T (p.Gly410=) c.1161A>T (p.Gly387=) | |
2 | g.202532687C>A | CA350341910 | BMPR2 | c.1231C>A (p.Leu411Ile) c.1162C>A (p.Leu388Ile) | |
2 | g.202532687C= | CA1321545681 | BMPR2 | c.1231C= (p.Leu411=) c.1162C= (p.Leu388=) | |
2 | g.202532687C>G | CA350341909 | BMPR2 | c.1231C>G (p.Leu411Val) c.1162C>G (p.Leu388Val) | |
2 | g.202532687C>T | CA430849814 | BMPR2 | c.1231C>T (p.Leu411=) c.1162C>T (p.Leu388=) | dbSNP |
2 | g.202532688T>A | CA350341911 | BMPR2 | c.1232T>A (p.Leu411Gln) c.1163T>A (p.Leu388Gln) | |
2 | g.202532688T>C | CA350341913 | BMPR2 | c.1232T>C (p.Leu411Pro) c.1163T>C (p.Leu388Pro) | |
2 | g.202532688T>G | CA350341912 | BMPR2 | c.1232T>G (p.Leu411Arg) c.1163T>G (p.Leu388Arg) | |
2 | g.202532688T= | CA1321545682 | BMPR2 | c.1232T= (p.Leu411=) c.1163T= (p.Leu388=) | |
2 | g.202532689A= | CA1321545683 | BMPR2 | c.1233A= (p.Leu411=) c.1164A= (p.Leu388=) | |
2 | g.202532689A>C | CA430849820 | BMPR2 | c.1233A>C (p.Leu411=) c.1164A>C (p.Leu388=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202532689A>G | CA430849826 | BMPR2 | c.1233A>G (p.Leu411=) c.1164A>G (p.Leu388=) | |
2 | g.202532689A>T | CA430849827 | BMPR2 | c.1233A>T (p.Leu411=) c.1164A>T (p.Leu388=) | |
2 | g.202532689_202532692dup | CA1139657615 | BMPR2 | c.1233_1236dup (p.Tyr413AsnfsTer?) c.1164_1167dup (p.Tyr390AsnfsTer?) | ClinVar dbSNP |
2 | g.202532690A= | CA1321545684 | BMPR2 | c.1234A= (p.Ile412=) c.1165A= (p.Ile389=) | |
2 | g.202532690A>C | CA350341914 | BMPR2 | c.1234A>C (p.Ile412Leu) c.1165A>C (p.Ile389Leu) | |
2 | g.202532690A>G | CA64029565 | BMPR2 | c.1234A>G (p.Ile412Val) c.1165A>G (p.Ile389Val) | dbSNP gnomAD v4 |
2 | g.202532690A>T | CA350341915 | BMPR2 | c.1234A>T (p.Ile412Phe) c.1165A>T (p.Ile389Phe) | |
2 | g.202532691T>A | CA350341916 | BMPR2 | c.1235T>A (p.Ile412Asn) c.1166T>A (p.Ile389Asn) | |
2 | g.202532691T>C | CA350341917 | BMPR2 | c.1235T>C (p.Ile412Thr) c.1166T>C (p.Ile389Thr) | |
2 | g.202532691T>G | CA350341918 | BMPR2 | c.1235T>G (p.Ile412Ser) c.1166T>G (p.Ile389Ser) | |
2 | g.202532692C>A | CA430849834 | BMPR2 | c.1236C>A (p.Ile412=) c.1167C>A (p.Ile389=) | |
2 | g.202532692C>G | CA350341919 | BMPR2 | c.1236C>G (p.Ile412Met) c.1167C>G (p.Ile389Met) | |
2 | g.202532692C>T | CA430849837 | BMPR2 | c.1236C>T (p.Ile412=) c.1167C>T (p.Ile389=) | |
2 | g.202532693T>A | CA350341920 | BMPR2 | c.1237T>A (p.Tyr413Asn) c.1168T>A (p.Tyr390Asn) | |
2 | g.202532693T>C | CA350341921 | BMPR2 | c.1237T>C (p.Tyr413His) c.1168T>C (p.Tyr390His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202532693T>G | CA350341922 | BMPR2 | c.1237T>G (p.Tyr413Asp) c.1168T>G (p.Tyr390Asp) | |
2 | g.202532693T= | CA1321545685 | BMPR2 | c.1237T= (p.Tyr413=) c.1168T= (p.Tyr390=) | |
2 | g.202532694A>C | CA350341925 | BMPR2 | c.1238A>C (p.Tyr413Ser) c.1169A>C (p.Tyr390Ser) | |
2 | g.202532694A>G | CA350341924 | BMPR2 | c.1238A>G (p.Tyr413Cys) c.1169A>G (p.Tyr390Cys) | gnomAD v4 |
2 | g.202532694A>T | CA350341923 | BMPR2 | c.1238A>T (p.Tyr413Phe) c.1169A>T (p.Tyr390Phe) | |
2 | g.202532695T>A | CA350341926 | BMPR2 | c.1239T>A (p.Tyr413Ter) c.1170T>A (p.Tyr390Ter) | |
2 | g.202532695T>C | CA2061320 | BMPR2 | c.1239T>C (p.Tyr413=) c.1170T>C (p.Tyr390=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202532695T>G | CA350341927 | BMPR2 | c.1239T>G (p.Tyr413Ter) c.1170T>G (p.Tyr390Ter) | |
2 | g.202532695T= | CA1321545686 | BMPR2 | c.1239T= (p.Tyr413=) c.1170T= (p.Tyr390=) | |
2 | g.202532696T>A | CA350341928 | BMPR2 | c.1240T>A (p.Trp414Arg) c.1171T>A (p.Trp391Arg) | |
2 | g.202532696T>C | CA350341929 | BMPR2 | c.1240T>C (p.Trp414Arg) c.1171T>C (p.Trp391Arg) | |
2 | g.202532696T>G | CA350341930 | BMPR2 | c.1240T>G (p.Trp414Gly) c.1171T>G (p.Trp391Gly) | |
2 | g.202532697G>A | CA350341931 | BMPR2 | c.1241G>A (p.Trp414Ter) c.1172G>A (p.Trp391Ter) | ClinVar dbSNP |