Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202508280_202517537del | CA915941637 | BMPR2 | c.419-5439_622-1285del c.350-5439_553-1285del | ClinVar |
2 | g.202514965_202514967delinsCTG | CA1321537870 | BMPR2 | c.607_609delinsCTG (p.Leu203=) c.538_540delinsCTG (p.Leu180=) | |
2 | g.202514966T>A | CA350339125 | BMPR2 | c.608T>A (p.Leu203Gln) c.539T>A (p.Leu180Gln) | |
2 | g.202514966T>C | CA350339126 | BMPR2 | c.608T>C (p.Leu203Pro) c.539T>C (p.Leu180Pro) | |
2 | g.202514966T>G | CA350339129 | BMPR2 | c.608T>G (p.Leu203Arg) c.539T>G (p.Leu180Arg) | |
2 | g.202514966_202514967del | CA645293806 | BMPR2 | c.608_609del (p.Leu203GlnfsTer16) c.539_540del (p.Leu180GlnfsTer16) | ClinVar dbSNP |
2 | g.202514967G>A | CA430838603 | BMPR2 | c.609G>A (p.Leu203=) c.540G>A (p.Leu180=) | |
2 | g.202514967G>C | CA430838605 | BMPR2 | c.609G>C (p.Leu203=) c.540G>C (p.Leu180=) | |
2 | g.202514967G>T | CA430838604 | BMPR2 | c.609G>T (p.Leu203=) c.540G>T (p.Leu180=) | |
2 | g.202514967_202514968delinsGA | CA1321537871 | BMPR2 | c.609_610delinsGA (p.Leu203=) c.540_541delinsGA (p.Leu180=) | |
2 | g.202514968A>C | CA350339136 | BMPR2 | c.610A>C (p.Lys204Gln) c.541A>C (p.Lys181Gln) | gnomAD v4 |
2 | g.202514968A>G | CA350339135 | BMPR2 | c.610A>G (p.Lys204Glu) c.541A>G (p.Lys181Glu) | |
2 | g.202514968A>T | CA350339133 | BMPR2 | c.610A>T (p.Lys204Ter) c.541A>T (p.Lys181Ter) | ClinVar dbSNP |
2 | g.202514970del | CA645293807 | BMPR2 | c.612del (p.Lys204AsnfsTer5) c.543del (p.Lys181AsnfsTer5) | ClinVar dbSNP |
2 | g.202514969A>C | CA350339141 | BMPR2 | c.611A>C (p.Lys204Thr) c.542A>C (p.Lys181Thr) | |
2 | g.202514969A>G | CA350339145 | BMPR2 | c.611A>G (p.Lys204Arg) c.542A>G (p.Lys181Arg) | |
2 | g.202514969A>T | CA350339143 | BMPR2 | c.611A>T (p.Lys204Ile) c.542A>T (p.Lys181Ile) | |
2 | g.202514970A>C | CA350339147 | BMPR2 | c.612A>C (p.Lys204Asn) c.543A>C (p.Lys181Asn) | |
2 | g.202514970A>G | CA430838606 | BMPR2 | c.612A>G (p.Lys204=) c.543A>G (p.Lys181=) | |
2 | g.202514970A>T | CA350339149 | BMPR2 | c.612A>T (p.Lys204Asn) c.543A>T (p.Lys181Asn) | |
2 | g.202514971C>A | CA350339153 | BMPR2 | c.613C>A (p.Leu205Met) c.544C>A (p.Leu182Met) | |
2 | g.202514971C>G | CA350339154 | BMPR2 | c.613C>G (p.Leu205Val) c.544C>G (p.Leu182Val) | |
2 | g.202514971C>T | CA430838607 | BMPR2 | c.613C>T (p.Leu205=) c.544C>T (p.Leu182=) | |
2 | g.202514972T>A | CA350339158 | BMPR2 | c.614T>A (p.Leu205Gln) c.545T>A (p.Leu182Gln) | |
2 | g.202514972T>C | CA350339159 | BMPR2 | c.614T>C (p.Leu205Pro) c.545T>C (p.Leu182Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202514972T>G | CA350339162 | BMPR2 | c.614T>G (p.Leu205Arg) c.545T>G (p.Leu182Arg) | |
2 | g.202514972T= | CA1321537872 | BMPR2 | c.614T= (p.Leu205=) c.545T= (p.Leu182=) | |
2 | g.202514973G>A | CA430838609 | BMPR2 | c.615G>A (p.Leu205=) c.546G>A (p.Leu182=) | dbSNP gnomAD v4 |
2 | g.202514973G>C | CA430838610 | BMPR2 | c.615G>C (p.Leu205=) c.546G>C (p.Leu182=) | ClinVar dbSNP gnomAD v4 |
2 | g.202514973G= | CA1321537873 | BMPR2 | c.615G= (p.Leu205=) c.546G= (p.Leu182=) | |
2 | g.202514973G>T | CA64012892 | BMPR2 | c.615G>T (p.Leu205=) c.546G>T (p.Leu182=) | ClinVar dbSNP gnomAD v4 |
2 | g.202514974T>A | CA350339164 | BMPR2 | c.616T>A (p.Leu206Met) c.547T>A (p.Leu183Met) | |
2 | g.202514974T>C | CA430838611 | BMPR2 | c.616T>C (p.Leu206=) c.547T>C (p.Leu183=) | |
2 | g.202514974T>G | CA350339166 | BMPR2 | c.616T>G (p.Leu206Val) c.547T>G (p.Leu183Val) | |
2 | g.202514975T>A | CA350339167 | BMPR2 | c.617T>A (p.Leu206Ter) c.548T>A (p.Leu183Ter) | ClinVar dbSNP |
2 | g.202514975T>C | CA350339168 | BMPR2 | c.617T>C (p.Leu206Ser) c.548T>C (p.Leu183Ser) | |
2 | g.202514975T>G | CA350339170 | BMPR2 | c.617T>G (p.Leu206Trp) c.548T>G (p.Leu183Trp) | |
2 | g.202514975T= | CA1321537874 | BMPR2 | c.617T= (p.Leu206=) c.548T= (p.Leu183=) | |
2 | g.202514976G>A | CA430838612 | BMPR2 | c.618G>A (p.Leu206=) c.549G>A (p.Leu183=) | |
2 | g.202514976G>C | CA350339173 | BMPR2 | c.618G>C (p.Leu206Phe) c.549G>C (p.Leu183Phe) | |
2 | g.202514976G>T | CA350339175 | BMPR2 | c.618G>T (p.Leu206Phe) c.549G>T (p.Leu183Phe) | |
2 | g.202514977dup | CA915941640 | BMPR2 | c.619dup (p.Glu207GlyfsTer13) c.550dup (p.Glu184GlyfsTer13) | ClinVar dbSNP |
2 | g.202514977G>A | CA2061155 | BMPR2 | c.619G>A (p.Glu207Lys) c.550G>A (p.Glu184Lys) | dbSNP ExAC gnomAD v2 |
2 | g.202514977G>C | CA350339181 | BMPR2 | c.619G>C (p.Glu207Gln) c.550G>C (p.Glu184Gln) | |
2 | g.202514977G= | CA1321537875 | BMPR2 | c.619G= (p.Glu207=) c.550G= (p.Glu184=) | |
2 | g.202514977G>T | CA350339183 | BMPR2 | c.619G>T (p.Glu207Ter) c.550G>T (p.Glu184Ter) | |
2 | g.202514978A= | CA1321537876 | BMPR2 | c.620A= (p.Glu207=) c.551A= (p.Glu184=) | |
2 | g.202514978A>C | CA350339187 | BMPR2 | c.620A>C (p.Glu207Ala) c.551A>C (p.Glu184Ala) | |
2 | g.202514978A>G | CA64012893 | BMPR2 | c.620A>G (p.Glu207Gly) c.551A>G (p.Glu184Gly) | dbSNP |
2 | g.202514978A>T | CA350339191 | BMPR2 | c.620A>T (p.Glu207Val) c.551A>T (p.Glu184Val) |