Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202532687_202532700del | CA2586971102 | BMPR2 | c.1231_1244del (p.Leu411AspfsTer?) c.1162_1175del (p.Leu388AspfsTer?) | |
2 | g.202532699G>A | CA350341938 | BMPR2 | c.1243G>A (p.Glu415Lys) c.1174G>A (p.Glu392Lys) | |
2 | g.202532699G>C | CA350341939 | BMPR2 | c.1243G>C (p.Glu415Gln) c.1174G>C (p.Glu392Gln) | COSMIC |
2 | g.202532699G= | CA1321545689 | BMPR2 | c.1243G= (p.Glu415=) c.1174G= (p.Glu392=) | |
2 | g.202532699G>T | CA350341937 | BMPR2 | c.1243G>T (p.Glu415Ter) c.1174G>T (p.Glu392Ter) | ClinVar dbSNP |
2 | g.202532701_202532702dup | CA645293825 | BMPR2 | c.1245_1246dup (p.Ile416ArgfsTer4) c.1176_1177dup (p.Ile393ArgfsTer4) | ClinVar dbSNP |
2 | g.202532700A>C | CA350341940 | BMPR2 | c.1244A>C (p.Glu415Ala) c.1175A>C (p.Glu392Ala) | |
2 | g.202532700A>G | CA350341941 | BMPR2 | c.1244A>G (p.Glu415Gly) c.1175A>G (p.Glu392Gly) | COSMIC |
2 | g.202532700A>T | CA350341942 | BMPR2 | c.1244A>T (p.Glu415Val) c.1175A>T (p.Glu392Val) | |
2 | g.202532701G>A | CA430849881 | BMPR2 | c.1245G>A (p.Glu415=) c.1176G>A (p.Glu392=) | dbSNP gnomAD v2 |
2 | g.202532701G>C | CA350341943 | BMPR2 | c.1245G>C (p.Glu415Asp) c.1176G>C (p.Glu392Asp) | |
2 | g.202532701G= | CA1321545690 | BMPR2 | c.1245G= (p.Glu415=) c.1176G= (p.Glu392=) | |
2 | g.202532701G>T | CA350341944 | BMPR2 | c.1245G>T (p.Glu415Asp) c.1176G>T (p.Glu392Asp) | |
2 | g.202532701dup | CA658761121 | BMPR2 | c.1245dup (p.Ile416AspfsTer?) c.1176dup (p.Ile393AspfsTer?) | |
2 | g.202532702A= | CA1321545691 | BMPR2 | c.1246A= (p.Ile416=) c.1177A= (p.Ile393=) | |
2 | g.202532702A>C | CA350341945 | BMPR2 | c.1246A>C (p.Ile416Leu) c.1177A>C (p.Ile393Leu) | |
2 | g.202532702A>G | CA350341946 | BMPR2 | c.1246A>G (p.Ile416Val) c.1177A>G (p.Ile393Val) | |
2 | g.202532702A>T | CA350341947 | BMPR2 | c.1246A>T (p.Ile416Leu) c.1177A>T (p.Ile393Leu) | |
2 | g.202532702dup | CA2586971103 | BMPR2 | c.1246dup (p.Ile416AsnfsTer?) c.1177dup (p.Ile393AsnfsTer?) | |
2 | g.202532704_202532705dup | CA2586971104 | BMPR2 | c.1248_1249dup (p.Phe417TyrfsTer3) c.1179_1180dup (p.Phe394TyrfsTer3) | |
2 | g.202532702_202532706delinsATATT | CA1321545692 | BMPR2 | c.1246_1250delinsATATT (p.Ile416=) c.1177_1181delinsATATT (p.Ile393=) | |
2 | g.202532702_202532703insG | CA645293826 | BMPR2 | c.1246_1247insG (p.Ile416SerfsTer?) c.1177_1178insG (p.Ile393SerfsTer?) | ClinVar dbSNP |
2 | g.202532703T>A | CA350341948 | BMPR2 | c.1247T>A (p.Ile416Lys) c.1178T>A (p.Ile393Lys) | |
2 | g.202532703T>C | CA350341949 | BMPR2 | c.1247T>C (p.Ile416Thr) c.1178T>C (p.Ile393Thr) | |
2 | g.202532703T>G | CA350341950 | BMPR2 | c.1247T>G (p.Ile416Arg) c.1178T>G (p.Ile393Arg) | |
2 | g.202532703_202532704delinsTA | CA1321545693 | BMPR2 | c.1247_1248delinsTA (p.Ile416=) c.1178_1179delinsTA (p.Ile393=) | |
2 | g.202532703_202532706delinsGA | CA645293828 | BMPR2 | c.1247_1250delinsGA (p.Ile416ArgfsTer31) c.1178_1181delinsGA (p.Ile393ArgfsTer31) | ClinVar dbSNP |
2 | g.202532706_202532709del | CA645293827 | BMPR2 | c.1250_1253del (p.Phe417Ter) c.1181_1184del (p.Phe394Ter) | ClinVar dbSNP |
2 | g.202532703_202532704insGA | CA658761122 | BMPR2 | c.1247_1248insGA (p.Ile416MetfsTer4) c.1178_1179insGA (p.Ile393MetfsTer4) | |
2 | g.202532704del | CA645293829 | BMPR2 | c.1248del (p.Phe417LeufsTer2) c.1179del (p.Phe394LeufsTer2) | ClinVar dbSNP |
2 | g.202532704A>C | CA430849891 | BMPR2 | c.1248A>C (p.Ile416=) c.1179A>C (p.Ile393=) | |
2 | g.202532704A>G | CA350341951 | BMPR2 | c.1248A>G (p.Ile416Met) c.1179A>G (p.Ile393Met) | |
2 | g.202532704A>T | CA430849895 | BMPR2 | c.1248A>T (p.Ile416=) c.1179A>T (p.Ile393=) | |
2 | g.202532705T>A | CA350341953 | BMPR2 | c.1249T>A (p.Phe417Ile) c.1180T>A (p.Phe394Ile) | |
2 | g.202532705T>C | CA350341954 | BMPR2 | c.1249T>C (p.Phe417Leu) c.1180T>C (p.Phe394Leu) | gnomAD v4 |
2 | g.202532705T>G | CA350341952 | BMPR2 | c.1249T>G (p.Phe417Val) c.1180T>G (p.Phe394Val) | |
2 | g.202532706T>A | CA350341955 | BMPR2 | c.1250T>A (p.Phe417Tyr) c.1181T>A (p.Phe394Tyr) | |
2 | g.202532706T>C | CA350341956 | BMPR2 | c.1250T>C (p.Phe417Ser) c.1181T>C (p.Phe394Ser) | |
2 | g.202532706T>G | CA350341957 | BMPR2 | c.1250T>G (p.Phe417Cys) c.1181T>G (p.Phe394Cys) | ClinVar |
2 | g.202532707T>A | CA350341958 | BMPR2 | c.1251T>A (p.Phe417Leu) c.1182T>A (p.Phe394Leu) | |
2 | g.202532707T>C | CA430849914 | BMPR2 | c.1251T>C (p.Phe417=) c.1182T>C (p.Phe394=) | |
2 | g.202532707T>G | CA350341959 | BMPR2 | c.1251T>G (p.Phe417Leu) c.1182T>G (p.Phe394Leu) | |
2 | g.202532708_202532709del | CA645532634 | BMPR2 | c.1252_1253del (p.Met418GlufsTer29) c.1183_1184del (p.Met395GlufsTer29) | COSMIC |
2 | g.202532708A>C | CA350341962 | BMPR2 | c.1252A>C (p.Met418Leu) c.1183A>C (p.Met395Leu) | |
2 | g.202532708A>G | CA350341960 | BMPR2 | c.1252A>G (p.Met418Val) c.1183A>G (p.Met395Val) | |
2 | g.202532708A>T | CA350341961 | BMPR2 | c.1252A>T (p.Met418Leu) c.1183A>T (p.Met395Leu) | |
2 | g.202532709T>A | CA350341963 | BMPR2 | c.1253T>A (p.Met418Lys) c.1184T>A (p.Met395Lys) | |
2 | g.202532709T>C | CA350341964 | BMPR2 | c.1253T>C (p.Met418Thr) c.1184T>C (p.Met395Thr) | |
2 | g.202532709T>G | CA350341965 | BMPR2 | c.1253T>G (p.Met418Arg) c.1184T>G (p.Met395Arg) | gnomAD v4 |
2 | g.202532710G>A | CA350341966 | BMPR2 | c.1254G>A (p.Met418Ile) c.1185G>A (p.Met395Ile) |