Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86917275C>A | CA470308084 | BMPR1A | c.817C>A (p.Arg273=) | |
10 | g.86917275C= | CA1925725703 | BMPR1A | c.817C= (p.Arg273=) | |
10 | g.86917275C>G | CA377458417 | BMPR1A | c.817C>G (p.Arg273Gly) | |
10 | g.86917275C>T | CA168144 | BMPR1A | c.817C>T (p.Arg273Ter) | ClinVar dbSNP |
10 | g.86917276G>A | CA5585611 | BMPR1A | c.818G>A (p.Arg273Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86917276G>C | CA377458429 | BMPR1A | c.818G>C (p.Arg273Pro) | |
10 | g.86917276G= | CA1925725704 | BMPR1A | c.818G= (p.Arg273=) | |
10 | g.86917276G>T | CA377458422 | BMPR1A | c.818G>T (p.Arg273Leu) | ClinVar dbSNP |
10 | g.86917277A>C | CA470308085 | BMPR1A | c.819A>C (p.Arg273=) | |
10 | g.86917277A>G | CA470308086 | BMPR1A | c.819A>G (p.Arg273=) | |
10 | g.86917277A>T | CA470308087 | BMPR1A | c.819A>T (p.Arg273=) | |
10 | g.86917278G>A | CA377458431 | BMPR1A | c.820G>A (p.Glu274Lys) | |
10 | g.86917278G>C | CA377458436 | BMPR1A | c.820G>C (p.Glu274Gln) | |
10 | g.86917278G>T | CA377458443 | BMPR1A | c.820G>T (p.Glu274Ter) | |
10 | g.86917279A>C | CA377458449 | BMPR1A | c.821A>C (p.Glu274Ala) | |
10 | g.86917279A>G | CA377458457 | BMPR1A | c.821A>G (p.Glu274Gly) | |
10 | g.86917279A>T | CA377458462 | BMPR1A | c.821A>T (p.Glu274Val) | |
10 | g.86917280A>C | CA377458463 | BMPR1A | c.822A>C (p.Glu274Asp) | ClinVar |
10 | g.86917280A>G | CA470308088 | BMPR1A | c.822A>G (p.Glu274=) | |
10 | g.86917280A>T | CA377458467 | BMPR1A | c.822A>T (p.Glu274Asp) | ClinVar |
10 | g.86917280_86917282delinsAAC | CA1925725705 | BMPR1A | c.822_824delinsAAC (p.Glu274=) | |
10 | g.86917281A>C | CA377458474 | BMPR1A | c.823A>C (p.Thr275Pro) | |
10 | g.86917281A>G | CA377458477 | BMPR1A | c.823A>G (p.Thr275Ala) | ClinVar |
10 | g.86917281A>T | CA377458492 | BMPR1A | c.823A>T (p.Thr275Ser) | |
10 | g.86917282_86917283del | CA915947543 | BMPR1A | c.824_825del (p.Thr275ArgfsTer11) | ClinVar dbSNP |
10 | g.86917282C>A | CA377458502 | BMPR1A | c.824C>A (p.Thr275Lys) | |
10 | g.86917282C>G | CA377458505 | BMPR1A | c.824C>G (p.Thr275Arg) | |
10 | g.86917282C>T | CA377458498 | BMPR1A | c.824C>T (p.Thr275Ile) | ClinVar |
10 | g.86917282_86917284delinsCAG | CA1925725706 | BMPR1A | c.824_826delinsCAG (p.Thr275=) | |
10 | g.86917283A= | CA1925725707 | BMPR1A | c.825A= (p.Thr275=) | |
10 | g.86917283A>C | CA470308089 | BMPR1A | c.825A>C (p.Thr275=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.86917283A>G | CA470308090 | BMPR1A | c.825A>G (p.Thr275=) | |
10 | g.86917283A>T | CA470308091 | BMPR1A | c.825A>T (p.Thr275=) | |
10 | g.86917284_86917285del | CA166103 | BMPR1A | c.826_827del (p.Glu276AsnfsTer10) | ClinVar dbSNP |
10 | g.86917284G>A | CA377458514 | BMPR1A | c.826G>A (p.Glu276Lys) | |
10 | g.86917284G>C | CA377458522 | BMPR1A | c.826G>C (p.Glu276Gln) | |
10 | g.86917284G>T | CA377458549 | BMPR1A | c.826G>T (p.Glu276Ter) | |
10 | g.86917285A= | CA1925725708 | BMPR1A | c.827A= (p.Glu276=) | |
10 | g.86917285A>C | CA377458550 | BMPR1A | c.827A>C (p.Glu276Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.86917285A>G | CA377458551 | BMPR1A | c.827A>G (p.Glu276Gly) | |
10 | g.86917285A>T | CA377458554 | BMPR1A | c.827A>T (p.Glu276Val) | |
10 | g.86917287del | CA2573145707 | BMPR1A | c.829del (p.Ile277SerfsTer6) | ClinVar dbSNP |
10 | g.86917286A= | CA1925725709 | BMPR1A | c.828A= (p.Glu276=) | |
10 | g.86917286A>C | CA377458561 | BMPR1A | c.828A>C (p.Glu276Asp) | |
10 | g.86917286A>G | CA470308092 | BMPR1A | c.828A>G (p.Glu276=) | ClinVar dbSNP gnomAD v4 |
10 | g.86917286A>T | CA377458564 | BMPR1A | c.828A>T (p.Glu276Asp) | |
10 | g.86917287A= | CA1925725710 | BMPR1A | c.829A= (p.Ile277=) | |
10 | g.86917287A>C | CA377458570 | BMPR1A | c.829A>C (p.Ile277Leu) | |
10 | g.86917287A>G | CA16612894 | BMPR1A | c.829A>G (p.Ile277Val) | ClinVar dbSNP |
10 | g.86917287A>T | CA377458582 | BMPR1A | c.829A>T (p.Ile277Phe) |