Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202515407_202524196del | CA915941641 | BMPR2 | c.621+428_967+3995del c.552+428_898+3995del | ClinVar |
2 | g.202518846G>A | CA350340096 | BMPR2 | c.646G>A (p.Ala216Thr) c.577G>A (p.Ala193Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518846G>C | CA350340097 | BMPR2 | c.646G>C (p.Ala216Pro) c.577G>C (p.Ala193Pro) | |
2 | g.202518846G= | CA1321539653 | BMPR2 | c.646G= (p.Ala216=) c.577G= (p.Ala193=) | |
2 | g.202518846G>T | CA350340098 | BMPR2 | c.646G>T (p.Ala216Ser) c.577G>T (p.Ala193Ser) | |
2 | g.202518847C>A | CA350340099 | BMPR2 | c.647C>A (p.Ala216Glu) c.578C>A (p.Ala193Glu) | |
2 | g.202518847C= | CA1321539654 | BMPR2 | c.647C= (p.Ala216=) c.578C= (p.Ala193=) | |
2 | g.202518847C>G | CA350340100 | BMPR2 | c.647C>G (p.Ala216Gly) c.578C>G (p.Ala193Gly) | |
2 | g.202518847C>T | CA350340101 | BMPR2 | c.647C>T (p.Ala216Val) c.578C>T (p.Ala193Val) | dbSNP |
2 | g.202518848del | CA2586971008 | BMPR2 | c.648del (p.Val217TyrfsTer13) c.579del (p.Val194TyrfsTer13) | |
2 | g.202518848A>C | CA430838924 | BMPR2 | c.648A>C (p.Ala216=) c.579A>C (p.Ala193=) | |
2 | g.202518848A>G | CA430838921 | BMPR2 | c.648A>G (p.Ala216=) c.579A>G (p.Ala193=) | gnomAD v4 |
2 | g.202518848A>T | CA430838922 | BMPR2 | c.648A>T (p.Ala216=) c.579A>T (p.Ala193=) | |
2 | g.202518849G>A | CA350340102 | BMPR2 | c.649G>A (p.Val217Ile) c.580G>A (p.Val194Ile) | |
2 | g.202518849G>C | CA350340103 | BMPR2 | c.649G>C (p.Val217Leu) c.580G>C (p.Val194Leu) | |
2 | g.202518849G>T | CA350340104 | BMPR2 | c.649G>T (p.Val217Leu) c.580G>T (p.Val194Leu) | |
2 | g.202518850T>A | CA350340107 | BMPR2 | c.650T>A (p.Val217Glu) c.581T>A (p.Val194Glu) | |
2 | g.202518850T>C | CA350340106 | BMPR2 | c.650T>C (p.Val217Ala) c.581T>C (p.Val194Ala) | |
2 | g.202518850T>G | CA350340105 | BMPR2 | c.650T>G (p.Val217Gly) c.581T>G (p.Val194Gly) | |
2 | g.202518851A>C | CA430838925 | BMPR2 | c.651A>C (p.Val217=) c.582A>C (p.Val194=) | |
2 | g.202518851A>G | CA430838927 | BMPR2 | c.651A>G (p.Val217=) c.582A>G (p.Val194=) | gnomAD v4 |
2 | g.202518851A>T | CA430838926 | BMPR2 | c.651A>T (p.Val217=) c.582A>T (p.Val194=) | |
2 | g.202518852T>A | CA350340108 | BMPR2 | c.652T>A (p.Tyr218Asn) c.583T>A (p.Tyr195Asn) | |
2 | g.202518852T>C | CA350340109 | BMPR2 | c.652T>C (p.Tyr218His) c.583T>C (p.Tyr195His) | |
2 | g.202518852T>G | CA350340110 | BMPR2 | c.652T>G (p.Tyr218Asp) c.583T>G (p.Tyr195Asp) | |
2 | g.202518853A= | CA1321539655 | BMPR2 | c.653A= (p.Tyr218=) c.584A= (p.Tyr195=) | |
2 | g.202518853A>C | CA2061183 | BMPR2 | c.653A>C (p.Tyr218Ser) c.584A>C (p.Tyr195Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518853A>G | CA350340111 | BMPR2 | c.653A>G (p.Tyr218Cys) c.584A>G (p.Tyr195Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518853A>T | CA350340112 | BMPR2 | c.653A>T (p.Tyr218Phe) c.584A>T (p.Tyr195Phe) | |
2 | g.202518853_202518854delinsAT | CA1321539656 | BMPR2 | c.653_654delinsAT (p.Tyr218=) c.584_585delinsAT (p.Tyr195=) | |
2 | g.202518854del | CA763426202 | BMPR2 | c.654del (p.Tyr218Ter) c.585del (p.Tyr195Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518854T>A | CA350340113 | BMPR2 | c.654T>A (p.Tyr218Ter) c.585T>A (p.Tyr195Ter) | |
2 | g.202518854T>C | CA430838929 | BMPR2 | c.654T>C (p.Tyr218=) c.585T>C (p.Tyr195=) | |
2 | g.202518854T>G | CA350340114 | BMPR2 | c.654T>G (p.Tyr218Ter) c.585T>G (p.Tyr195Ter) | |
2 | g.202518854_202518855delinsTA | CA1321539657 | BMPR2 | c.654_655delinsTA (p.Tyr218=) c.585_586delinsTA (p.Tyr195=) | |
2 | g.202518855A= | CA1321539658 | BMPR2 | c.655A= (p.Lys219=) c.586A= (p.Lys196=) | |
2 | g.202518855A>C | CA350340115 | BMPR2 | c.655A>C (p.Lys219Gln) c.586A>C (p.Lys196Gln) | |
2 | g.202518855A>G | CA350340116 | BMPR2 | c.655A>G (p.Lys219Glu) c.586A>G (p.Lys196Glu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518855A>T | CA350340117 | BMPR2 | c.655A>T (p.Lys219Ter) c.586A>T (p.Lys196Ter) | |
2 | g.202518857del | CA915941642 | BMPR2 | c.657del (p.Gly220AlafsTer10) c.588del (p.Gly197AlafsTer10) | ClinVar dbSNP |
2 | g.202518856A>C | CA350340118 | BMPR2 | c.656A>C (p.Lys219Thr) c.587A>C (p.Lys196Thr) | |
2 | g.202518856A>G | CA350340119 | BMPR2 | c.656A>G (p.Lys219Arg) c.587A>G (p.Lys196Arg) | |
2 | g.202518856A>T | CA350340120 | BMPR2 | c.656A>T (p.Lys219Ile) c.587A>T (p.Lys196Ile) | |
2 | g.202518857A= | CA1321539659 | BMPR2 | c.657A= (p.Lys219=) c.588A= (p.Lys196=) | |
2 | g.202518857A>C | CA350340121 | BMPR2 | c.657A>C (p.Lys219Asn) c.588A>C (p.Lys196Asn) | |
2 | g.202518857A>G | CA430838930 | BMPR2 | c.657A>G (p.Lys219=) c.588A>G (p.Lys196=) | |
2 | g.202518857A>T | CA350340122 | BMPR2 | c.657A>T (p.Lys219Asn) c.588A>T (p.Lys196Asn) | |
2 | g.202518858G>A | CA350340123 | BMPR2 | c.658G>A (p.Gly220Ser) c.589G>A (p.Gly197Ser) | dbSNP gnomAD v4 |
2 | g.202518858G>C | CA350340124 | BMPR2 | c.658G>C (p.Gly220Arg) c.589G>C (p.Gly197Arg) | |
2 | g.202518858G= | CA1321539660 | BMPR2 | c.658G= (p.Gly220=) c.589G= (p.Gly197=) | |
2 | g.202518858G>T | CA350340125 | BMPR2 | c.658G>T (p.Gly220Cys) c.589G>T (p.Gly197Cys) | |
2 | g.202518859dup | CA645293808 | BMPR2 | c.659dup (p.Ser221LeufsTer4) c.590dup (p.Ser198LeufsTer4) | ClinVar dbSNP |
2 | g.202518859G>A | CA350340126 | BMPR2 | c.659G>A (p.Gly220Asp) c.590G>A (p.Gly197Asp) | |
2 | g.202518859G>C | CA350340127 | BMPR2 | c.659G>C (p.Gly220Ala) c.590G>C (p.Gly197Ala) | dbSNP |
2 | g.202518859G>T | CA350340128 | BMPR2 | c.659G>T (p.Gly220Val) c.590G>T (p.Gly197Val) | |
2 | g.202518860C>A | CA2061184 | BMPR2 | c.660C>A (p.Gly220=) c.591C>A (p.Gly197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518860C= | CA1321539661 | BMPR2 | c.660C= (p.Gly220=) c.591C= (p.Gly197=) | |
2 | g.202518860C>G | CA430838931 | BMPR2 | c.660C>G (p.Gly220=) c.591C>G (p.Gly197=) | |
2 | g.202518860C>T | CA430838932 | BMPR2 | c.660C>T (p.Gly220=) c.591C>T (p.Gly197=) | dbSNP |
2 | g.202518861T>A | CA350340132 | BMPR2 | c.661T>A (p.Ser221Thr) c.592T>A (p.Ser198Thr) | |
2 | g.202518861T>C | CA350340133 | BMPR2 | c.661T>C (p.Ser221Pro) c.592T>C (p.Ser198Pro) | |
2 | g.202518861T>G | CA350340135 | BMPR2 | c.661T>G (p.Ser221Ala) c.592T>G (p.Ser198Ala) | |
2 | g.202518862C>A | CA350340138 | BMPR2 | c.662C>A (p.Ser221Tyr) c.593C>A (p.Ser198Tyr) | |
2 | g.202518862C>G | CA350340139 | BMPR2 | c.662C>G (p.Ser221Cys) c.593C>G (p.Ser198Cys) | |
2 | g.202518862C>T | CA350340141 | BMPR2 | c.662C>T (p.Ser221Phe) c.593C>T (p.Ser198Phe) | gnomAD v4 |
2 | g.202518863del | CA2832528660 | BMPR2 | c.663del (p.Leu222TrpfsTer8) c.594del (p.Leu199TrpfsTer8) | |
2 | g.202518863C>A | CA430838936 | BMPR2 | c.663C>A (p.Ser221=) c.594C>A (p.Ser198=) | |
2 | g.202518863C>G | CA430838939 | BMPR2 | c.663C>G (p.Ser221=) c.594C>G (p.Ser198=) | |
2 | g.202518863C>T | CA430838940 | BMPR2 | c.663C>T (p.Ser221=) c.594C>T (p.Ser198=) | ClinVar dbSNP COSMIC |
2 | g.202518863_202518865delinsCTT | CA1321539662 | BMPR2 | c.663_665delinsCTT (p.Ser221=) c.594_596delinsCTT (p.Ser198=) | |
2 | g.202518864T>A | CA350340145 | BMPR2 | c.664T>A (p.Leu222Met) c.595T>A (p.Leu199Met) | |
2 | g.202518864T>C | CA430838941 | BMPR2 | c.664T>C (p.Leu222=) c.595T>C (p.Leu199=) | |
2 | g.202518864T>G | CA350340143 | BMPR2 | c.664T>G (p.Leu222Val) c.595T>G (p.Leu199Val) | |
2 | g.202518864_202518865delinsAAGG | CA645293809 | BMPR2 | c.664_665delinsAAGG (p.Leu222LysfsTer9) c.595_596delinsAAGG (p.Leu199LysfsTer9) | ClinVar dbSNP |
2 | g.202518865T>A | CA350340148 | BMPR2 | c.665T>A (p.Leu222Ter) c.596T>A (p.Leu199Ter) | |
2 | g.202518865T>C | CA350340150 | BMPR2 | c.665T>C (p.Leu222Ser) c.596T>C (p.Leu199Ser) | gnomAD v4 |
2 | g.202518865T>G | CA350340149 | BMPR2 | c.665T>G (p.Leu222Trp) c.596T>G (p.Leu199Trp) | COSMIC |
2 | g.202518866G>A | CA430838944 | BMPR2 | c.666G>A (p.Leu222=) c.597G>A (p.Leu199=) | |
2 | g.202518866G>C | CA350340153 | BMPR2 | c.666G>C (p.Leu222Phe) c.597G>C (p.Leu199Phe) | dbSNP |
2 | g.202518866G= | CA1321539663 | BMPR2 | c.666G= (p.Leu222=) c.597G= (p.Leu199=) | |
2 | g.202518866G>T | CA350340155 | BMPR2 | c.666G>T (p.Leu222Phe) c.597G>T (p.Leu199Phe) | dbSNP gnomAD v4 |
2 | g.202518867G>A | CA350340157 | BMPR2 | c.667G>A (p.Asp223Asn) c.598G>A (p.Asp200Asn) | dbSNP |
2 | g.202518867G>C | CA2061185 | BMPR2 | c.667G>C (p.Asp223His) c.598G>C (p.Asp200His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518867G= | CA1321539664 | BMPR2 | c.667G= (p.Asp223=) c.598G= (p.Asp200=) | |
2 | g.202518867G>T | CA350340159 | BMPR2 | c.667G>T (p.Asp223Tyr) c.598G>T (p.Asp200Tyr) | |
2 | g.202518868A= | CA1321539665 | BMPR2 | c.668A= (p.Asp223=) c.599A= (p.Asp200=) | |
2 | g.202518868A>C | CA350340164 | BMPR2 | c.668A>C (p.Asp223Ala) c.599A>C (p.Asp200Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518868A>G | CA350340163 | BMPR2 | c.668A>G (p.Asp223Gly) c.599A>G (p.Asp200Gly) | ClinVar dbSNP |
2 | g.202518868A>T | CA350340161 | BMPR2 | c.668A>T (p.Asp223Val) c.599A>T (p.Asp200Val) | |
2 | g.202518869T>A | CA350340167 | BMPR2 | c.669T>A (p.Asp223Glu) c.600T>A (p.Asp200Glu) | |
2 | g.202518869T>C | CA2061186 | BMPR2 | c.669T>C (p.Asp223=) c.600T>C (p.Asp200=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518869T>G | CA350340169 | BMPR2 | c.669T>G (p.Asp223Glu) c.600T>G (p.Asp200Glu) | |
2 | g.202518869T= | CA1321539666 | BMPR2 | c.669T= (p.Asp223=) c.600T= (p.Asp200=) | |
2 | g.202518870G>A | CA350340172 | BMPR2 | c.670G>A (p.Glu224Lys) c.601G>A (p.Glu201Lys) | |
2 | g.202518870G>C | CA350340173 | BMPR2 | c.670G>C (p.Glu224Gln) c.601G>C (p.Glu201Gln) | gnomAD v4 |
2 | g.202518870G>T | CA350340174 | BMPR2 | c.670G>T (p.Glu224Ter) c.601G>T (p.Glu201Ter) | |
2 | g.202518870_202518877delinsGAGCGTCC | CA1321539667 | BMPR2 | c.670_677delinsGAGCGTCC (p.Glu224=) c.601_608delinsGAGCGTCC (p.Glu201=) | |
2 | g.202518871A>C | CA350340177 | BMPR2 | c.671A>C (p.Glu224Ala) c.602A>C (p.Glu201Ala) | |
2 | g.202518871A>G | CA350340180 | BMPR2 | c.671A>G (p.Glu224Gly) c.602A>G (p.Glu201Gly) | |
2 | g.202518871A>T | CA350340179 | BMPR2 | c.671A>T (p.Glu224Val) c.602A>T (p.Glu201Val) | |
2 | g.202518873_202518879del | CA645293810 | BMPR2 | c.673_679del (p.Arg225LeufsTer3) c.604_610del (p.Arg202LeufsTer3) | ClinVar dbSNP |
2 | g.202518872G>A | CA430838949 | BMPR2 | c.672G>A (p.Glu224=) c.603G>A (p.Glu201=) | ClinVar |
2 | g.202518872G>C | CA2061187 | BMPR2 | c.672G>C (p.Glu224Asp) c.603G>C (p.Glu201Asp) | dbSNP ExAC gnomAD v2 |
2 | g.202518872G= | CA1321539668 | BMPR2 | c.672G= (p.Glu224=) c.603G= (p.Glu201=) | |
2 | g.202518872G>T | CA350340184 | BMPR2 | c.672G>T (p.Glu224Asp) c.603G>T (p.Glu201Asp) | |
2 | g.202518873C>A | CA350340186 | BMPR2 | c.673C>A (p.Arg225Ser) c.604C>A (p.Arg202Ser) | |
2 | g.202518873C= | CA1321539669 | BMPR2 | c.673C= (p.Arg225=) c.604C= (p.Arg202=) | |
2 | g.202518873C>G | CA350340188 | BMPR2 | c.673C>G (p.Arg225Gly) c.604C>G (p.Arg202Gly) | |
2 | g.202518873C>T | CA350340190 | BMPR2 | c.673C>T (p.Arg225Cys) c.604C>T (p.Arg202Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518874G>A | CA2061188 | BMPR2 | c.674G>A (p.Arg225His) c.605G>A (p.Arg202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518874G>C | CA350340193 | BMPR2 | c.674G>C (p.Arg225Pro) c.605G>C (p.Arg202Pro) | |
2 | g.202518874G= | CA1321539670 | BMPR2 | c.674G= (p.Arg225=) c.605G= (p.Arg202=) | |
2 | g.202518874G>T | CA350340194 | BMPR2 | c.674G>T (p.Arg225Leu) c.605G>T (p.Arg202Leu) | |
2 | g.202518875T>A | CA430838952 | BMPR2 | c.675T>A (p.Arg225=) c.606T>A (p.Arg202=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518875T>C | CA430838953 | BMPR2 | c.675T>C (p.Arg225=) c.606T>C (p.Arg202=) | |
2 | g.202518875T>G | CA430838954 | BMPR2 | c.675T>G (p.Arg225=) c.606T>G (p.Arg202=) | |
2 | g.202518875T= | CA1321539671 | BMPR2 | c.675T= (p.Arg225=) c.606T= (p.Arg202=) | |
2 | g.202518876C>A | CA350340197 | BMPR2 | c.676C>A (p.Pro226Thr) c.607C>A (p.Pro203Thr) | |
2 | g.202518876C= | CA1321539672 | BMPR2 | c.676C= (p.Pro226=) c.607C= (p.Pro203=) | |
2 | g.202518876C>G | CA350340199 | BMPR2 | c.676C>G (p.Pro226Ala) c.607C>G (p.Pro203Ala) | |
2 | g.202518876C>T | CA350340200 | BMPR2 | c.676C>T (p.Pro226Ser) c.607C>T (p.Pro203Ser) | dbSNP |
2 | g.202518877C>A | CA350340203 | BMPR2 | c.677C>A (p.Pro226Gln) c.608C>A (p.Pro203Gln) | |
2 | g.202518877C>G | CA350340206 | BMPR2 | c.677C>G (p.Pro226Arg) c.608C>G (p.Pro203Arg) | |
2 | g.202518877C>T | CA350340204 | BMPR2 | c.677C>T (p.Pro226Leu) c.608C>T (p.Pro203Leu) | gnomAD v4 |
2 | g.202518878A>C | CA430838959 | BMPR2 | c.678A>C (p.Pro226=) c.609A>C (p.Pro203=) | |
2 | g.202518878A>G | CA430838957 | BMPR2 | c.678A>G (p.Pro226=) c.609A>G (p.Pro203=) | |
2 | g.202518878A>T | CA430838958 | BMPR2 | c.678A>T (p.Pro226=) c.609A>T (p.Pro203=) | |
2 | g.202518879G>A | CA350340208 | BMPR2 | c.679G>A (p.Val227Ile) c.610G>A (p.Val204Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518879G>C | CA350340210 | BMPR2 | c.679G>C (p.Val227Leu) c.610G>C (p.Val204Leu) | |
2 | g.202518879G= | CA1321539673 | BMPR2 | c.679G= (p.Val227=) c.610G= (p.Val204=) | |
2 | g.202518879G>T | CA350340212 | BMPR2 | c.679G>T (p.Val227Phe) c.610G>T (p.Val204Phe) | |
2 | g.202518880T>A | CA350340215 | BMPR2 | c.680T>A (p.Val227Asp) c.611T>A (p.Val204Asp) | |
2 | g.202518880T>C | CA2061189 | BMPR2 | c.680T>C (p.Val227Ala) c.611T>C (p.Val204Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518880T>G | CA350340217 | BMPR2 | c.680T>G (p.Val227Gly) c.611T>G (p.Val204Gly) | |
2 | g.202518880T= | CA1321539674 | BMPR2 | c.680T= (p.Val227=) c.611T= (p.Val204=) | |
2 | g.202518881T>A | CA430838961 | BMPR2 | c.681T>A (p.Val227=) c.612T>A (p.Val204=) | |
2 | g.202518881T>C | CA430838962 | BMPR2 | c.681T>C (p.Val227=) c.612T>C (p.Val204=) | |
2 | g.202518881T>G | CA430838964 | BMPR2 | c.681T>G (p.Val227=) c.612T>G (p.Val204=) | |
2 | g.202518882G>A | CA350340220 | BMPR2 | c.682G>A (p.Ala228Thr) c.613G>A (p.Ala205Thr) | dbSNP |
2 | g.202518882G>C | CA350340221 | BMPR2 | c.682G>C (p.Ala228Pro) c.613G>C (p.Ala205Pro) | |
2 | g.202518882G>T | CA350340223 | BMPR2 | c.682G>T (p.Ala228Ser) c.613G>T (p.Ala205Ser) | |
2 | g.202518882_202518883delinsGC | CA1321539675 | BMPR2 | c.682_683delinsGC (p.Ala228=) c.613_614delinsGC (p.Ala205=) | |
2 | g.202518883del | CA915941643 | BMPR2 | c.683del (p.Ala228ValfsTer2) c.614del (p.Ala205ValfsTer2) | ClinVar dbSNP |
2 | g.202518883C>A | CA350340226 | BMPR2 | c.683C>A (p.Ala228Asp) c.614C>A (p.Ala205Asp) | |
2 | g.202518883C>G | CA350340227 | BMPR2 | c.683C>G (p.Ala228Gly) c.614C>G (p.Ala205Gly) | |
2 | g.202518883C>T | CA350340228 | BMPR2 | c.683C>T (p.Ala228Val) c.614C>T (p.Ala205Val) | |
2 | g.202518884T>A | CA430838968 | BMPR2 | c.684T>A (p.Ala228=) c.615T>A (p.Ala205=) | |
2 | g.202518884T>C | CA430838969 | BMPR2 | c.684T>C (p.Ala228=) c.615T>C (p.Ala205=) | |
2 | g.202518884T>G | CA430838970 | BMPR2 | c.684T>G (p.Ala228=) c.615T>G (p.Ala205=) | |
2 | g.202518884T= | CA1321539676 | BMPR2 | c.684T= (p.Ala228=) c.615T= (p.Ala205=) | |
2 | g.202518885G>A | CA350340237 | BMPR2 | c.685G>A (p.Val229Ile) c.616G>A (p.Val206Ile) | dbSNP |
2 | g.202518885G>C | CA350340229 | BMPR2 | c.685G>C (p.Val229Leu) c.616G>C (p.Val206Leu) | |
2 | g.202518885G= | CA1321539677 | BMPR2 | c.685G= (p.Val229=) c.616G= (p.Val206=) | |
2 | g.202518885G>T | CA350340236 | BMPR2 | c.685G>T (p.Val229Leu) c.616G>T (p.Val206Leu) | |
2 | g.202518885dup | CA1041341592 | BMPR2 | c.685dup (p.Val229GlyfsTer27) c.616dup (p.Val206GlyfsTer27) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202518886T>A | CA350340240 | BMPR2 | c.686T>A (p.Val229Glu) c.617T>A (p.Val206Glu) | |
2 | g.202518886T>C | CA350340242 | BMPR2 | c.686T>C (p.Val229Ala) c.617T>C (p.Val206Ala) | |
2 | g.202518886T>G | CA350340244 | BMPR2 | c.686T>G (p.Val229Gly) c.617T>G (p.Val206Gly) | |
2 | g.202518886_202518888delinsTAA | CA1321539678 | BMPR2 | c.686_688delinsTAA (p.Val229=) c.617_619delinsTAA (p.Val206=) | |
2 | g.202518886_202518893delinsTAAAAGTG | CA1321539679 | BMPR2 | c.686_693delinsTAAAAGTG (p.Val229=) c.617_624delinsTAAAAGTG (p.Val206=) | |
2 | g.202518887A>C | CA430838975 | BMPR2 | c.687A>C (p.Val229=) c.618A>C (p.Val206=) | |
2 | g.202518887A>G | CA430838976 | BMPR2 | c.687A>G (p.Val229=) c.618A>G (p.Val206=) | COSMIC |
2 | g.202518887A>T | CA430838977 | BMPR2 | c.687A>T (p.Val229=) c.618A>T (p.Val206=) | |
2 | g.202518890del | CA430838978 | BMPR2 | c.690del (p.Val231CysfsTer21) c.621del (p.Val208CysfsTer21) | COSMIC |
2 | g.202518889_202518890del | CA645293811 | BMPR2 | c.689_690del (p.Lys230SerfsTer25) c.620_621del (p.Lys207SerfsTer25) | ClinVar dbSNP |
2 | g.202518887_202518893del | CA915941644 | BMPR2 | c.687_693del (p.Lys230PhefsTer20) c.618_624del (p.Lys207PhefsTer20) | ClinVar dbSNP |
2 | g.202518888A>C | CA350340246 | BMPR2 | c.688A>C (p.Lys230Gln) c.619A>C (p.Lys207Gln) | |
2 | g.202518888A>G | CA350340248 | BMPR2 | c.688A>G (p.Lys230Glu) c.619A>G (p.Lys207Glu) | |
2 | g.202518888A>T | CA350340250 | BMPR2 | c.688A>T (p.Lys230Ter) c.619A>T (p.Lys207Ter) | |
2 | g.202518889A>C | CA350340252 | BMPR2 | c.689A>C (p.Lys230Thr) c.620A>C (p.Lys207Thr) | |
2 | g.202518889A>G | CA350340253 | BMPR2 | c.689A>G (p.Lys230Arg) c.620A>G (p.Lys207Arg) | |
2 | g.202518889A>T | CA350340255 | BMPR2 | c.689A>T (p.Lys230Ile) c.620A>T (p.Lys207Ile) | |
2 | g.202518889_202518891delinsAAG | CA1321539680 | BMPR2 | c.689_691delinsAAG (p.Lys230=) c.620_622delinsAAG (p.Lys207=) | |
2 | g.202518890A= | CA1321539682 | BMPR2 | c.690A= (p.Lys230=) c.621A= (p.Lys207=) | |
2 | g.202518890A>C | CA350340258 | BMPR2 | c.690A>C (p.Lys230Asn) c.621A>C (p.Lys207Asn) | |
2 | g.202518890A>G | CA430838983 | BMPR2 | c.690A>G (p.Lys230=) c.621A>G (p.Lys207=) | |
2 | g.202518890A>T | CA350340260 | BMPR2 | c.690A>T (p.Lys230Asn) c.621A>T (p.Lys207Asn) | ClinVar dbSNP COSMIC |
2 | g.202518890_202518891delinsT | CA645293812 | BMPR2 | c.690_691delinsT (p.Lys230AsnfsTer22) c.621_622delinsT (p.Lys207AsnfsTer22) | ClinVar dbSNP |
2 | g.202518890_202518891delinsAG | CA1321539681 | BMPR2 | c.690_691delinsAG (p.Lys230=) c.621_622delinsAG (p.Lys207=) | |
2 | g.202518891del | CA915941645 | BMPR2 | c.691del (p.Val231CysfsTer21) c.622del (p.Val208CysfsTer21) | ClinVar dbSNP |
2 | g.202518891G>A | CA350340264 | BMPR2 | c.691G>A (p.Val231Met) c.622G>A (p.Val208Met) | |
2 | g.202518891G>C | CA350340267 | BMPR2 | c.691G>C (p.Val231Leu) c.622G>C (p.Val208Leu) | |
2 | g.202518891G>T | CA350340262 | BMPR2 | c.691G>T (p.Val231Leu) c.622G>T (p.Val208Leu) | gnomAD v4 |
2 | g.202518892T>A | CA350340272 | BMPR2 | c.692T>A (p.Val231Glu) c.623T>A (p.Val208Glu) | |
2 | g.202518892T>C | CA350340269 | BMPR2 | c.692T>C (p.Val231Ala) c.623T>C (p.Val208Ala) | |
2 | g.202518892T>G | CA350340270 | BMPR2 | c.692T>G (p.Val231Gly) c.623T>G (p.Val208Gly) | |
2 | g.202518893G>A | CA430838987 | BMPR2 | c.693G>A (p.Val231=) c.624G>A (p.Val208=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518893G>C | CA430838988 | BMPR2 | c.693G>C (p.Val231=) c.624G>C (p.Val208=) | |
2 | g.202518893G= | CA1321539683 | BMPR2 | c.693G= (p.Val231=) c.624G= (p.Val208=) | |
2 | g.202518893G>T | CA430838989 | BMPR2 | c.693G>T (p.Val231=) c.624G>T (p.Val208=) | |
2 | g.202518894T>A | CA350340274 | BMPR2 | c.694T>A (p.Phe232Ile) c.625T>A (p.Phe209Ile) | |
2 | g.202518894T>C | CA350340275 | BMPR2 | c.694T>C (p.Phe232Leu) c.625T>C (p.Phe209Leu) | dbSNP |
2 | g.202518894T>G | CA350340277 | BMPR2 | c.694T>G (p.Phe232Val) c.625T>G (p.Phe209Val) | |
2 | g.202518894T= | CA1321539684 | BMPR2 | c.694T= (p.Phe232=) c.625T= (p.Phe209=) | |
2 | g.202518897del | CA645532629 | BMPR2 | c.697del (p.Ser233ProfsTer19) c.628del (p.Ser210ProfsTer19) | dbSNP COSMIC |
2 | g.202518895T>A | CA350340279 | BMPR2 | c.695T>A (p.Phe232Tyr) c.626T>A (p.Phe209Tyr) | |
2 | g.202518895T>C | CA350340281 | BMPR2 | c.695T>C (p.Phe232Ser) c.626T>C (p.Phe209Ser) | gnomAD v4 |
2 | g.202518895T>G | CA350340283 | BMPR2 | c.695T>G (p.Phe232Cys) c.626T>G (p.Phe209Cys) | |
2 | g.202518896T>A | CA350340285 | BMPR2 | c.696T>A (p.Phe232Leu) c.627T>A (p.Phe209Leu) | |
2 | g.202518896T>C | CA430838990 | BMPR2 | c.696T>C (p.Phe232=) c.627T>C (p.Phe209=) | gnomAD v4 |
2 | g.202518896T>G | CA350340286 | BMPR2 | c.696T>G (p.Phe232Leu) c.627T>G (p.Phe209Leu) | dbSNP |
2 | g.202518896T= | CA1321539685 | BMPR2 | c.696T= (p.Phe232=) c.627T= (p.Phe209=) | |
2 | g.202518897T>A | CA350340289 | BMPR2 | c.697T>A (p.Ser233Thr) c.628T>A (p.Ser210Thr) | dbSNP |
2 | g.202518897T>C | CA350340291 | BMPR2 | c.697T>C (p.Ser233Pro) c.628T>C (p.Ser210Pro) | |
2 | g.202518897T>G | CA350340292 | BMPR2 | c.697T>G (p.Ser233Ala) c.628T>G (p.Ser210Ala) | |
2 | g.202518897T= | CA1321539686 | BMPR2 | c.697T= (p.Ser233=) c.628T= (p.Ser210=) | |
2 | g.202518897_202518898insAAAGAAAGCAAGGTATTAATATCA | CA2701463853 | BMPR2 | c.697_698insAAAGAAAGCAAGGTATTAATATCA (p.Ser233Ter) c.628_629insAAAGAAAGCAAGGTATTAATATCA (p.Ser210Ter) | dbSNP |
2 | g.202518898C>A | CA350340298 | BMPR2 | c.698C>A (p.Ser233Tyr) c.629C>A (p.Ser210Tyr) | |
2 | g.202518898C>G | CA350340294 | BMPR2 | c.698C>G (p.Ser233Cys) c.629C>G (p.Ser210Cys) | |
2 | g.202518898C>T | CA350340296 | BMPR2 | c.698C>T (p.Ser233Phe) c.629C>T (p.Ser210Phe) | dbSNP gnomAD v4 COSMIC |
2 | g.202518899C>A | CA430838994 | BMPR2 | c.699C>A (p.Ser233=) c.630C>A (p.Ser210=) | |
2 | g.202518899C>G | CA430838998 | BMPR2 | c.699C>G (p.Ser233=) c.630C>G (p.Ser210=) | |
2 | g.202518899C>T | CA430838995 | BMPR2 | c.699C>T (p.Ser233=) c.630C>T (p.Ser210=) | dbSNP |
2 | g.202518900T>A | CA350340300 | BMPR2 | c.700T>A (p.Phe234Ile) c.631T>A (p.Phe211Ile) | gnomAD v4 |
2 | g.202518900T>C | CA350340302 | BMPR2 | c.700T>C (p.Phe234Leu) c.631T>C (p.Phe211Leu) | gnomAD v4 |
2 | g.202518900T>G | CA350340304 | BMPR2 | c.700T>G (p.Phe234Val) c.631T>G (p.Phe211Val) | |
2 | g.202518901T>A | CA350340306 | BMPR2 | c.701T>A (p.Phe234Tyr) c.632T>A (p.Phe211Tyr) | |
2 | g.202518901T>C | CA350340308 | BMPR2 | c.701T>C (p.Phe234Ser) c.632T>C (p.Phe211Ser) | |
2 | g.202518901T>G | CA350340310 | BMPR2 | c.701T>G (p.Phe234Cys) c.632T>G (p.Phe211Cys) | |
2 | g.202518902T>A | CA350340311 | BMPR2 | c.702T>A (p.Phe234Leu) c.633T>A (p.Phe211Leu) | |
2 | g.202518902T>C | CA2061190 | BMPR2 | c.702T>C (p.Phe234=) c.633T>C (p.Phe211=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518902T>G | CA350340315 | BMPR2 | c.702T>G (p.Phe234Leu) c.633T>G (p.Phe211Leu) | |
2 | g.202518902T= | CA1321539687 | BMPR2 | c.702T= (p.Phe234=) c.633T= (p.Phe211=) | |
2 | g.202518903G>A | CA350340316 | BMPR2 | c.703G>A (p.Ala235Thr) c.634G>A (p.Ala212Thr) | gnomAD v4 |
2 | g.202518903G>C | CA350340318 | BMPR2 | c.703G>C (p.Ala235Pro) c.634G>C (p.Ala212Pro) | |
2 | g.202518903G>T | CA350340320 | BMPR2 | c.703G>T (p.Ala235Ser) c.634G>T (p.Ala212Ser) | |
2 | g.202518904C>A | CA350340323 | BMPR2 | c.704C>A (p.Ala235Glu) c.635C>A (p.Ala212Glu) | |
2 | g.202518904C>G | CA350340322 | BMPR2 | c.704C>G (p.Ala235Gly) c.635C>G (p.Ala212Gly) | |
2 | g.202518904C>T | CA350340321 | BMPR2 | c.704C>T (p.Ala235Val) c.635C>T (p.Ala212Val) | gnomAD v4 |
2 | g.202518905A>C | CA430839026 | BMPR2 | c.705A>C (p.Ala235=) c.636A>C (p.Ala212=) | |
2 | g.202518905A>G | CA430839029 | BMPR2 | c.705A>G (p.Ala235=) c.636A>G (p.Ala212=) | gnomAD v4 |
2 | g.202518905A>T | CA430839031 | BMPR2 | c.705A>T (p.Ala235=) c.636A>T (p.Ala212=) | |
2 | g.202518907del | CA2586971011 | BMPR2 | c.707del (p.Asn236ThrfsTer16) c.638del (p.Asn213ThrfsTer16) | |
2 | g.202518906A>C | CA350340324 | BMPR2 | c.706A>C (p.Asn236His) c.637A>C (p.Asn213His) | |
2 | g.202518906A>G | CA350340326 | BMPR2 | c.706A>G (p.Asn236Asp) c.637A>G (p.Asn213Asp) | |
2 | g.202518906A>T | CA350340325 | BMPR2 | c.706A>T (p.Asn236Tyr) c.637A>T (p.Asn213Tyr) | |
2 | g.202518907A>C | CA350340327 | BMPR2 | c.707A>C (p.Asn236Thr) c.638A>C (p.Asn213Thr) | |
2 | g.202518907A>G | CA350340328 | BMPR2 | c.707A>G (p.Asn236Ser) c.638A>G (p.Asn213Ser) | |
2 | g.202518907A>T | CA350340329 | BMPR2 | c.707A>T (p.Asn236Ile) c.638A>T (p.Asn213Ile) | |
2 | g.202518908C>A | CA350340330 | BMPR2 | c.708C>A (p.Asn236Lys) c.639C>A (p.Asn213Lys) | |
2 | g.202518908C= | CA1321539688 | BMPR2 | c.708C= (p.Asn236=) c.639C= (p.Asn213=) | |
2 | g.202518908C>G | CA350340331 | BMPR2 | c.708C>G (p.Asn236Lys) c.639C>G (p.Asn213Lys) | |
2 | g.202518908C>T | CA10613905 | BMPR2 | c.708C>T (p.Asn236=) c.639C>T (p.Asn213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518909C>A | CA350340332 | BMPR2 | c.709C>A (p.Arg237Ser) c.640C>A (p.Arg214Ser) | |
2 | g.202518909C= | CA1321539689 | BMPR2 | c.709C= (p.Arg237=) c.640C= (p.Arg214=) | |
2 | g.202518909C>G | CA350340333 | BMPR2 | c.709C>G (p.Arg237Gly) c.640C>G (p.Arg214Gly) | |
2 | g.202518909C>T | CA2061191 | BMPR2 | c.709C>T (p.Arg237Cys) c.640C>T (p.Arg214Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518910G>A | CA2061192 | BMPR2 | c.710G>A (p.Arg237His) c.641G>A (p.Arg214His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518910G>C | CA350340334 | BMPR2 | c.710G>C (p.Arg237Pro) c.641G>C (p.Arg214Pro) | dbSNP |
2 | g.202518910G= | CA1321539690 | BMPR2 | c.710G= (p.Arg237=) c.641G= (p.Arg214=) | |
2 | g.202518910G>T | CA350340335 | BMPR2 | c.710G>T (p.Arg237Leu) c.641G>T (p.Arg214Leu) | dbSNP |
2 | g.202518911T>A | CA430839064 | BMPR2 | c.711T>A (p.Arg237=) c.642T>A (p.Arg214=) | |
2 | g.202518911T>C | CA2061193 | BMPR2 | c.711T>C (p.Arg237=) c.642T>C (p.Arg214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518911T>G | CA430839070 | BMPR2 | c.711T>G (p.Arg237=) c.642T>G (p.Arg214=) | |
2 | g.202518911T= | CA1321539691 | BMPR2 | c.711T= (p.Arg237=) c.642T= (p.Arg214=) | |
2 | g.202518912C>A | CA350340336 | BMPR2 | c.712C>A (p.Gln238Lys) c.643C>A (p.Gln215Lys) | |
2 | g.202518912C= | CA1321539692 | BMPR2 | c.712C= (p.Gln238=) c.643C= (p.Gln215=) | |
2 | g.202518912C>G | CA350340337 | BMPR2 | c.712C>G (p.Gln238Glu) c.643C>G (p.Gln215Glu) | |
2 | g.202518912C>T | CA350340338 | BMPR2 | c.712C>T (p.Gln238Ter) c.643C>T (p.Gln215Ter) | ClinVar dbSNP |
2 | g.202518913A>C | CA350340339 | BMPR2 | c.713A>C (p.Gln238Pro) c.644A>C (p.Gln215Pro) | |
2 | g.202518913A>G | CA350340340 | BMPR2 | c.713A>G (p.Gln238Arg) c.644A>G (p.Gln215Arg) | |
2 | g.202518913A>T | CA350340341 | BMPR2 | c.713A>T (p.Gln238Leu) c.644A>T (p.Gln215Leu) | |
2 | g.202518914_202518915del | CA2586971013 | BMPR2 | c.714_715del (p.Asn239PhefsTer16) c.645_646del (p.Asn216PhefsTer16) | |
2 | g.202518914G>A | CA430839082 | BMPR2 | c.714G>A (p.Gln238=) c.645G>A (p.Gln215=) | COSMIC |
2 | g.202518914G>C | CA350340342 | BMPR2 | c.714G>C (p.Gln238His) c.645G>C (p.Gln215His) | |
2 | g.202518914G>T | CA350340343 | BMPR2 | c.714G>T (p.Gln238His) c.645G>T (p.Gln215His) | |
2 | g.202518915A>C | CA350340344 | BMPR2 | c.715A>C (p.Asn239His) c.646A>C (p.Asn216His) | |
2 | g.202518915A>G | CA350340345 | BMPR2 | c.715A>G (p.Asn239Asp) c.646A>G (p.Asn216Asp) | |
2 | g.202518915A>T | CA350340346 | BMPR2 | c.715A>T (p.Asn239Tyr) c.646A>T (p.Asn216Tyr) | |
2 | g.202518916A>C | CA350340347 | BMPR2 | c.716A>C (p.Asn239Thr) c.647A>C (p.Asn216Thr) | |
2 | g.202518916A>G | CA350340348 | BMPR2 | c.716A>G (p.Asn239Ser) c.647A>G (p.Asn216Ser) | |
2 | g.202518916A>T | CA350340349 | BMPR2 | c.716A>T (p.Asn239Ile) c.647A>T (p.Asn216Ile) | |
2 | g.202518917T>A | CA350340351 | BMPR2 | c.717T>A (p.Asn239Lys) c.648T>A (p.Asn216Lys) | |
2 | g.202518917T>C | CA430839476 | BMPR2 | c.717T>C (p.Asn239=) c.648T>C (p.Asn216=) | gnomAD v4 |
2 | g.202518917T>G | CA350340350 | BMPR2 | c.717T>G (p.Asn239Lys) c.648T>G (p.Asn216Lys) | |
2 | g.202518918T>A | CA350340352 | BMPR2 | c.718T>A (p.Phe240Ile) c.649T>A (p.Phe217Ile) | |
2 | g.202518918T>C | CA350340354 | BMPR2 | c.718T>C (p.Phe240Leu) c.649T>C (p.Phe217Leu) | |
2 | g.202518918T>G | CA350340353 | BMPR2 | c.718T>G (p.Phe240Val) c.649T>G (p.Phe217Val) | |
2 | g.202518919T>A | CA350340355 | BMPR2 | c.719T>A (p.Phe240Tyr) c.650T>A (p.Phe217Tyr) | |
2 | g.202518919T>C | CA350340356 | BMPR2 | c.719T>C (p.Phe240Ser) c.650T>C (p.Phe217Ser) | |
2 | g.202518919T>G | CA350340357 | BMPR2 | c.719T>G (p.Phe240Cys) c.650T>G (p.Phe217Cys) | gnomAD v4 |
2 | g.202518920T>A | CA350340358 | BMPR2 | c.720T>A (p.Phe240Leu) c.651T>A (p.Phe217Leu) | |
2 | g.202518920T>C | CA430839485 | BMPR2 | c.720T>C (p.Phe240=) c.651T>C (p.Phe217=) | dbSNP gnomAD v4 |
2 | g.202518920T>G | CA350340359 | BMPR2 | c.720T>G (p.Phe240Leu) c.651T>G (p.Phe217Leu) | |
2 | g.202518920T= | CA1321539693 | BMPR2 | c.720T= (p.Phe240=) c.651T= (p.Phe217=) | |
2 | g.202518921A>C | CA350340360 | BMPR2 | c.721A>C (p.Ile241Leu) c.652A>C (p.Ile218Leu) | |
2 | g.202518921A>G | CA350340361 | BMPR2 | c.721A>G (p.Ile241Val) c.652A>G (p.Ile218Val) | |
2 | g.202518921A>T | CA350340362 | BMPR2 | c.721A>T (p.Ile241Phe) c.652A>T (p.Ile218Phe) | |
2 | g.202518922T>A | CA350340363 | BMPR2 | c.722T>A (p.Ile241Asn) c.653T>A (p.Ile218Asn) | |
2 | g.202518922T>C | CA350340365 | BMPR2 | c.722T>C (p.Ile241Thr) c.653T>C (p.Ile218Thr) | |
2 | g.202518922T>G | CA350340364 | BMPR2 | c.722T>G (p.Ile241Ser) c.653T>G (p.Ile218Ser) | |
2 | g.202518923C>A | CA430839498 | BMPR2 | c.723C>A (p.Ile241=) c.654C>A (p.Ile218=) | |
2 | g.202518923C>G | CA350340366 | BMPR2 | c.723C>G (p.Ile241Met) c.654C>G (p.Ile218Met) | |
2 | g.202518923C>T | CA430839502 | BMPR2 | c.723C>T (p.Ile241=) c.654C>T (p.Ile218=) | |
2 | g.202518924A>C | CA350340367 | BMPR2 | c.724A>C (p.Asn242His) c.655A>C (p.Asn219His) | |
2 | g.202518924A>G | CA350340368 | BMPR2 | c.724A>G (p.Asn242Asp) c.655A>G (p.Asn219Asp) | |
2 | g.202518924A>T | CA350340369 | BMPR2 | c.724A>T (p.Asn242Tyr) c.655A>T (p.Asn219Tyr) | |
2 | g.202518925A= | CA1321539694 | BMPR2 | c.725A= (p.Asn242=) c.656A= (p.Asn219=) | |
2 | g.202518925A>C | CA350340370 | BMPR2 | c.725A>C (p.Asn242Thr) c.656A>C (p.Asn219Thr) | |
2 | g.202518925A>G | CA2061194 | BMPR2 | c.725A>G (p.Asn242Ser) c.656A>G (p.Asn219Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518925A>T | CA350340371 | BMPR2 | c.725A>T (p.Asn242Ile) c.656A>T (p.Asn219Ile) | |
2 | g.202518926C>A | CA350340372 | BMPR2 | c.726C>A (p.Asn242Lys) c.657C>A (p.Asn219Lys) | |
2 | g.202518926C= | CA1321539695 | BMPR2 | c.726C= (p.Asn242=) c.657C= (p.Asn219=) | |
2 | g.202518926C>G | CA350340373 | BMPR2 | c.726C>G (p.Asn242Lys) c.657C>G (p.Asn219Lys) | |
2 | g.202518926C>T | CA2061195 | BMPR2 | c.726C>T (p.Asn242=) c.657C>T (p.Asn219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.202518927G>A | CA350340374 | BMPR2 | c.727G>A (p.Glu243Lys) c.658G>A (p.Glu220Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.202518927G>C | CA350340375 | BMPR2 | c.727G>C (p.Glu243Gln) c.658G>C (p.Glu220Gln) | ClinVar dbSNP |
2 | g.202518927G= | CA1321539696 | BMPR2 | c.727G= (p.Glu243=) c.658G= (p.Glu220=) | |
2 | g.202518927G>T | CA350340376 | BMPR2 | c.727G>T (p.Glu243Ter) c.658G>T (p.Glu220Ter) | ClinVar dbSNP |
2 | g.202518928A>C | CA350340377 | BMPR2 | c.728A>C (p.Glu243Ala) c.659A>C (p.Glu220Ala) | |
2 | g.202518928A>G | CA350340378 | BMPR2 | c.728A>G (p.Glu243Gly) c.659A>G (p.Glu220Gly) | |
2 | g.202518928A>T | CA350340379 | BMPR2 | c.728A>T (p.Glu243Val) c.659A>T (p.Glu220Val) | |
2 | g.202518931del | CA2586965530 | BMPR2 | c.731del (p.Lys244ArgfsTer8) c.662del (p.Lys221ArgfsTer8) | |
2 | g.202518929A>C | CA350340380 | BMPR2 | c.729A>C (p.Glu243Asp) c.660A>C (p.Glu220Asp) | |
2 | g.202518929A>G | CA430839526 | BMPR2 | c.729A>G (p.Glu243=) c.660A>G (p.Glu220=) | |
2 | g.202518929A>T | CA350340381 | BMPR2 | c.729A>T (p.Glu243Asp) c.660A>T (p.Glu220Asp) | |
2 | g.202518930A>C | CA350340382 | BMPR2 | c.730A>C (p.Lys244Gln) c.661A>C (p.Lys221Gln) | |
2 | g.202518930A>G | CA350340384 | BMPR2 | c.730A>G (p.Lys244Glu) c.661A>G (p.Lys221Glu) | |
2 | g.202518930A>T | CA350340383 | BMPR2 | c.730A>T (p.Lys244Ter) c.661A>T (p.Lys221Ter) | |
2 | g.202518931A>C | CA350340385 | BMPR2 | c.731A>C (p.Lys244Thr) c.662A>C (p.Lys221Thr) | |
2 | g.202518931A>G | CA350340386 | BMPR2 | c.731A>G (p.Lys244Arg) c.662A>G (p.Lys221Arg) | |
2 | g.202518931A>T | CA350340387 | BMPR2 | c.731A>T (p.Lys244Met) c.662A>T (p.Lys221Met) | |
2 | g.202518932G>A | CA2061196 | BMPR2 | c.732G>A (p.Lys244=) c.663G>A (p.Lys221=) | dbSNP ExAC |
2 | g.202518932G>C | CA350340388 | BMPR2 | c.732G>C (p.Lys244Asn) c.663G>C (p.Lys221Asn) | |
2 | g.202518932G= | CA1321539697 | BMPR2 | c.732G= (p.Lys244=) c.663G= (p.Lys221=) | |
2 | g.202518932G>T | CA350340389 | BMPR2 | c.732G>T (p.Lys244Asn) c.663G>T (p.Lys221Asn) | |
2 | g.202518933A>C | CA350340390 | BMPR2 | c.733A>C (p.Asn245His) c.664A>C (p.Asn222His) | |
2 | g.202518933A>G | CA350340391 | BMPR2 | c.733A>G (p.Asn245Asp) c.664A>G (p.Asn222Asp) | |
2 | g.202518933A>T | CA350340392 | BMPR2 | c.733A>T (p.Asn245Tyr) c.664A>T (p.Asn222Tyr) | |
2 | g.202518934A>C | CA350340393 | BMPR2 | c.734A>C (p.Asn245Thr) c.665A>C (p.Asn222Thr) | |
2 | g.202518934A>G | CA350340394 | BMPR2 | c.734A>G (p.Asn245Ser) c.665A>G (p.Asn222Ser) | |
2 | g.202518934A>T | CA350340395 | BMPR2 | c.734A>T (p.Asn245Ile) c.665A>T (p.Asn222Ile) | |
2 | g.202518935C>A | CA350340397 | BMPR2 | c.735C>A (p.Asn245Lys) c.666C>A (p.Asn222Lys) | dbSNP |
2 | g.202518935C= | CA1321539698 | BMPR2 | c.735C= (p.Asn245=) c.666C= (p.Asn222=) | |
2 | g.202518935C>G | CA350340396 | BMPR2 | c.735C>G (p.Asn245Lys) c.666C>G (p.Asn222Lys) | |
2 | g.202518935C>T | CA430839551 | BMPR2 | c.735C>T (p.Asn245=) c.666C>T (p.Asn222=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518936A>C | CA350340398 | BMPR2 | c.736A>C (p.Ile246Leu) c.667A>C (p.Ile223Leu) | |
2 | g.202518936A>G | CA350340399 | BMPR2 | c.736A>G (p.Ile246Val) c.667A>G (p.Ile223Val) | |
2 | g.202518936A>T | CA350340400 | BMPR2 | c.736A>T (p.Ile246Phe) c.667A>T (p.Ile223Phe) | |
2 | g.202518936_202518937insATCAAA | CA430839557 | BMPR2 | c.736_737insATCAAA (p.Asn245_Ile246insAsnGln) c.667_668insATCAAA (p.Asn222_Ile223insAsnGln) | |
2 | g.202518937T>A | CA64015784 | BMPR2 | c.737T>A (p.Ile246Asn) c.668T>A (p.Ile223Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518937T>C | CA2061197 | BMPR2 | c.737T>C (p.Ile246Thr) c.668T>C (p.Ile223Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202518937T>G | CA350340401 | BMPR2 | c.737T>G (p.Ile246Ser) c.668T>G (p.Ile223Ser) | |
2 | g.202518937T= | CA1321539699 | BMPR2 | c.737T= (p.Ile246=) c.668T= (p.Ile223=) | |
2 | g.202518939del | CA2662705631 | BMPR2 | c.739del (p.Tyr247ThrfsTer5) c.670del (p.Tyr224ThrfsTer5) | gnomAD v4 |
2 | g.202518938T>A | CA430839564 | BMPR2 | c.738T>A (p.Ile246=) c.669T>A (p.Ile223=) | |
2 | g.202518938T>C | CA430839566 | BMPR2 | c.738T>C (p.Ile246=) c.669T>C (p.Ile223=) | |
2 | g.202518938T>G | CA350340402 | BMPR2 | c.738T>G (p.Ile246Met) c.669T>G (p.Ile223Met) | |
2 | g.202518939T>A | CA350340403 | BMPR2 | c.739T>A (p.Tyr247Asn) c.670T>A (p.Tyr224Asn) | |
2 | g.202518939T>C | CA350340404 | BMPR2 | c.739T>C (p.Tyr247His) c.670T>C (p.Tyr224His) | |
2 | g.202518939T>G | CA350340405 | BMPR2 | c.739T>G (p.Tyr247Asp) c.670T>G (p.Tyr224Asp) | |
2 | g.202518940A>C | CA350340406 | BMPR2 | c.740A>C (p.Tyr247Ser) c.671A>C (p.Tyr224Ser) | |
2 | g.202518940A>G | CA350340407 | BMPR2 | c.740A>G (p.Tyr247Cys) c.671A>G (p.Tyr224Cys) | |
2 | g.202518940A>T | CA350340408 | BMPR2 | c.740A>T (p.Tyr247Phe) c.671A>T (p.Tyr224Phe) | |
2 | g.202518941C>A | CA350340410 | BMPR2 | c.741C>A (p.Tyr247Ter) c.672C>A (p.Tyr224Ter) | |
2 | g.202518941C= | CA1321539700 | BMPR2 | c.741C= (p.Tyr247=) c.672C= (p.Tyr224=) | |
2 | g.202518941C>G | CA350340409 | BMPR2 | c.741C>G (p.Tyr247Ter) c.672C>G (p.Tyr224Ter) | |
2 | g.202518941C>T | CA430839583 | BMPR2 | c.741C>T (p.Tyr247=) c.672C>T (p.Tyr224=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202518942A>C | CA430839585 | BMPR2 | c.742A>C (p.Arg248=) c.673A>C (p.Arg225=) | |
2 | g.202518942A>G | CA350340411 | BMPR2 | c.742A>G (p.Arg248Gly) c.673A>G (p.Arg225Gly) | |
2 | g.202518942A>T | CA350340412 | BMPR2 | c.742A>T (p.Arg248Ter) c.673A>T (p.Arg225Ter) | |
2 | g.202518943G>A | CA350340413 | BMPR2 | c.743G>A (p.Arg248Lys) c.674G>A (p.Arg225Lys) | |
2 | g.202518943G>C | CA350340414 | BMPR2 | c.743G>C (p.Arg248Thr) c.674G>C (p.Arg225Thr) | |
2 | g.202518943G>T | CA350340415 | BMPR2 | c.743G>T (p.Arg248Ile) c.674G>T (p.Arg225Ile) | |
2 | g.202518944A>C | CA350340416 | BMPR2 | c.744A>C (p.Arg248Ser) c.675A>C (p.Arg225Ser) | |
2 | g.202518944A>G | CA430839598 | BMPR2 | c.744A>G (p.Arg248=) c.675A>G (p.Arg225=) | |
2 | g.202518944A>T | CA350340417 | BMPR2 | c.744A>T (p.Arg248Ser) c.675A>T (p.Arg225Ser) | COSMIC |
2 | g.202518945G>A | CA350340418 | BMPR2 | c.745G>A (p.Val249Met) c.676G>A (p.Val226Met) | |
2 | g.202518945G>C | CA350340419 | BMPR2 | c.745G>C (p.Val249Leu) c.676G>C (p.Val226Leu) | |
2 | g.202518945G>T | CA350340420 | BMPR2 | c.745G>T (p.Val249Leu) c.676G>T (p.Val226Leu) | |
2 | g.202518946T>A | CA350340421 | BMPR2 | c.746T>A (p.Val249Glu) c.677T>A (p.Val226Glu) | |
2 | g.202518946T>C | CA350340422 | BMPR2 | c.746T>C (p.Val249Ala) c.677T>C (p.Val226Ala) | gnomAD v4 |
2 | g.202518946T>G | CA350340423 | BMPR2 | c.746T>G (p.Val249Gly) c.677T>G (p.Val226Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202518946T= | CA1321539701 | BMPR2 | c.746T= (p.Val249=) c.677T= (p.Val226=) |