All transcript variants in gene BMPR1A

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.56C>T r.(?) p.(Ser19Phe) g.88635831C>T - BMPR1A_000044 - - - - Despoina Kalfakakou
./. - c.90T>C r.(=) p.(=) g.88649841T>C - BMPR1A_000041 - - - - Despoina Kalfakakou
./. - c.93T>C r.(=) p.(=) g.88649844T>C - BMPR1A_000040 - - - - Despoina Kalfakakou
./. - c.114C>G r.(?) p.(Asp38Glu) g.88649865C>G - BMPR1A_000029 - - - - Despoina Kalfakakou
./. - c.118G>A r.(?) p.(Asp40Asn) g.88649869G>A - BMPR1A_000038 - - - - Despoina Kalfakakou
./. - c.148T>C r.(=) p.(=) g.88649899T>C - BMPR1A_000030 - - - - Despoina Kalfakakou
./. - c.183C>T r.(=) p.(=) g.88649934C>T - BMPR1A_000035 - - - - Despoina Kalfakakou
./. - c.198C>T r.(=) p.(=) g.88649949C>T - BMPR1A_000015 - - - - Despoina Kalfakakou
./. - c.231-9C>T r.(=) p.(=) g.88651875C>T - BMPR1A_000013 - - - - Despoina Kalfakakou
./. - c.357C>T r.(=) p.(=) g.88659574C>T - BMPR1A_000023 - - - - Despoina Kalfakakou
./. - c.372T>C r.(=) p.(=) g.88659589T>C - BMPR1A_000001 - - - - Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) g.88659659G>A - BMPR1A_000011 - - - - Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) g.88659659G>A - BMPR1A_000011 - - - - Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) g.88659659G>A - BMPR1A_000011 - - - - Despoina Kalfakakou
./. - c.430+12G>A r.(=) p.(=) g.88659659G>A - BMPR1A_000011 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.430+25G>A r.(=) p.(=) g.88659672G>A - BMPR1A_000002 - - - - Despoina Kalfakakou
./. - c.431-30A>G r.(=) p.(=) g.88659754A>G - BMPR1A_000039 - - - - Despoina Kalfakakou
./. - c.499A>G r.(?) p.(Met167Val) g.88659852A>G - BMPR1A_000022 - - - - Despoina Kalfakakou
./. - c.675+10A>T r.(=) p.(=) g.88672151A>T - BMPR1A_000021 - - - - Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) g.88672188T>C - BMPR1A_000025 - - - - Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) g.88672188T>C - BMPR1A_000025 - - - - Despoina Kalfakakou
./. - c.675+47T>C r.(=) p.(=) g.88672188T>C - BMPR1A_000025 - - - - Despoina Kalfakakou
./. - c.676-34C>T r.(=) p.(=) g.88676857C>T - BMPR1A_000045 - - - - Despoina Kalfakakou
./. - c.676-24A>G r.(=) p.(=) g.88676867A>G - BMPR1A_000019 - - - - Despoina Kalfakakou
./. - c.676-6A>C r.(=) p.(=) g.88676885A>C - BMPR1A_000026 - - - - Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) g.88676992G>A - BMPR1A_000012 rs56108371 - - - Despoina Kalfakakou
./. - c.777G>A r.(=) p.(=) g.88676992G>A - BMPR1A_000012 rs56108371 - - - Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) g.88678886A>G - BMPR1A_000010 - - - - Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) g.88678886A>G - BMPR1A_000010 - - - - Despoina Kalfakakou
./. - c.869-43A>G r.(=) p.(=) g.88678886A>G - BMPR1A_000010 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.975A>G r.(=) p.(=) g.88679035A>G - BMPR1A_000003 - - - - Despoina Kalfakakou
./. - c.987A>C r.(?) p.(Arg329Ser) g.88679047A>C - BMPR1A_000034 - - - - Despoina Kalfakakou
./. - c.1000T>A r.(?) p.(Leu334Met) g.88679060T>A - BMPR1A_000027 - - - - Despoina Kalfakakou
./. - c.1001T>C r.(?) p.(Leu334Ser) g.88679061T>C - BMPR1A_000036 - - - - Despoina Kalfakakou
./. - c.1038C>A r.(?) p.(His346Gln) g.88679098C>A - BMPR1A_000043 - - - - Despoina Kalfakakou
./. - c.1160T>G r.(?) p.(Phe387Cys) g.88679220T>G - BMPR1A_000017 - - - - Despoina Kalfakakou
./. - c.1215A>C r.(?) p.(Lys405Asn) g.88681325A>C - BMPR1A_000004 - - - - Despoina Kalfakakou
./. - c.1215A>C r.(?) p.(Lys405Asn) g.88681325A>C - BMPR1A_000004 - - - - Despoina Kalfakakou
./. - c.1230C>T r.(=) p.(=) g.88681340C>T - BMPR1A_000014 - - - - Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) g.88681353G>A - BMPR1A_000006 - - - - Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) g.88681353G>A - BMPR1A_000006 - - - - Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) g.88681353G>A - BMPR1A_000006 - - - - Despoina Kalfakakou
./. - c.1243G>A r.(?) p.(Glu415Lys) g.88681353G>A - BMPR1A_000006 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1274A>T r.(?) p.(Tyr425Phe) g.88681384A>T - BMPR1A_000007 - - - - Despoina Kalfakakou
./. - c.1278C>T r.(=) p.(=) g.88681388C>T - BMPR1A_000008 - - - - Despoina Kalfakakou
./. - c.1299C>T r.(=) p.(=) g.88681409C>T - BMPR1A_000042 - - - - Despoina Kalfakakou
./. - c.1327C>T r.(?) p.(Arg443Cys) g.88681437C>T - BMPR1A_000032 rs35619497 - - - Despoina Kalfakakou
./. - c.1343-26_1343-25insC r.(=) p.(=) g.88683107_88683108insC - BMPR1A_000009 - - - - Despoina Kalfakakou
./. - c.1343-24C>A r.(=) p.(=) g.88683109C>A - BMPR1A_000028 - - - - Despoina Kalfakakou
./. - c.1343-22A>C r.(=) p.(=) g.88683111A>C - BMPR1A_000024 - - - - Despoina Kalfakakou
./. - c.1388G>T r.(?) p.(Ser463Ile) g.88683178G>T - BMPR1A_000016 - - - - Despoina Kalfakakou
./. - c.1412G>A r.(?) p.(Arg471His) g.88683202G>A - BMPR1A_000020 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1419T>G r.(=) p.(=) g.88683209T>G - BMPR1A_000005 - - - - Despoina Kalfakakou
./. - c.1458G>A r.(=) p.(=) g.88683248G>A - BMPR1A_000037 - - - - Despoina Kalfakakou
./. - c.1473+18C>T r.(=) p.(=) g.88683281C>T - BMPR1A_000018 - - - - Despoina Kalfakakou
./. - c.1473+34C>T r.(=) p.(=) g.88683297C>T - BMPR1A_000046 - - - - Despoina Kalfakakou
./. - c.1473+35G>A r.(=) p.(=) g.88683298G>A - BMPR1A_000033 - - - - Despoina Kalfakakou
./. - c.1528T>C r.(?) p.(Ser510Pro) g.88683405T>C - BMPR1A_000031 - - - - Despoina Kalfakakou
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