Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202465115_202467788del | CA915941495 | BMPR2 | c.247+136_418+99del c.176+132_349+99del n.154+136_325+99del | ClinVar |
2 | g.202465783_202470694del | CA915941496 | BMPR2 | c.247+804_418+3005del c.176+800_349+3005del n.154+804_325+3005del | ClinVar |
2 | g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | CA1321509919 | BMPR2 | c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC | |
2 | g.202466927_202467684delinsGTAAAGTA | CA645293853 | BMPR2 | c.248-592_413delinsGTAAAGTA c.177-126_344delinsGTAAAGTA n.155-592_320delinsGTAAAGTA | ClinVar dbSNP |
2 | g.202467637A>C | CA350399769 | BMPR2 | c.366A>C (p.Leu122Phe) c.297A>C (p.Leu99Phe) n.273A>C | |
2 | g.202467637A>G | CA430903860 | BMPR2 | c.366A>G (p.Leu122=) c.297A>G (p.Leu99=) n.273A>G | |
2 | g.202467637A>T | CA350399770 | BMPR2 | c.366A>T (p.Leu122Phe) c.297A>T (p.Leu99Phe) n.273A>T | gnomAD v4 |
2 | g.202467638T>A | CA278093 | BMPR2 | c.367T>A (p.Cys123Ser) c.298T>A (p.Cys100Ser) n.274T>A | ClinVar dbSNP |
2 | g.202467638T>C | CA278091 | BMPR2 | c.367T>C (p.Cys123Arg) c.298T>C (p.Cys100Arg) n.274T>C | ClinVar dbSNP |
2 | g.202467638T>G | CA350399771 | BMPR2 | c.367T>G (p.Cys123Gly) c.298T>G (p.Cys100Gly) n.274T>G | |
2 | g.202467638T= | CA1321510669 | BMPR2 | c.367T= (p.Cys123=) c.298T= (p.Cys100=) n.274T= | |
2 | g.202467639G>A | CA350399772 | BMPR2 | c.368G>A (p.Cys123Tyr) c.299G>A (p.Cys100Tyr) n.275G>A | |
2 | g.202467639G>C | CA350399773 | BMPR2 | c.368G>C (p.Cys123Ser) c.299G>C (p.Cys100Ser) n.275G>C | |
2 | g.202467639G>T | CA350399774 | BMPR2 | c.368G>T (p.Cys123Phe) c.299G>T (p.Cys100Phe) n.275G>T | |
2 | g.202467640del | CA2573051835 | BMPR2 | c.369del (p.Cys123Ter) c.300del (p.Cys100Ter) n.276del | ClinVar dbSNP |
2 | g.202467640T>A | CA350399775 | BMPR2 | c.369T>A (p.Cys123Ter) c.300T>A (p.Cys100Ter) n.276T>A | |
2 | g.202467640T>C | CA430903861 | BMPR2 | c.369T>C (p.Cys123=) c.300T>C (p.Cys100=) n.276T>C | |
2 | g.202467640T>G | CA350399776 | BMPR2 | c.369T>G (p.Cys123Trp) c.300T>G (p.Cys100Trp) n.276T>G | |
2 | g.202467640T= | CA1321510670 | BMPR2 | c.369T= (p.Cys123=) c.300T= (p.Cys100=) n.276T= | |
2 | g.202467641A= | CA1321510671 | BMPR2 | c.370A= (p.Asn124=) c.301A= (p.Asn101=) n.277A= | |
2 | g.202467641A>C | CA350399777 | BMPR2 | c.370A>C (p.Asn124His) c.301A>C (p.Asn101His) n.277A>C | |
2 | g.202467641A>G | CA350399778 | BMPR2 | c.370A>G (p.Asn124Asp) c.301A>G (p.Asn101Asp) n.277A>G | ClinVar dbSNP |
2 | g.202467641A>T | CA350399780 | BMPR2 | c.370A>T (p.Asn124Tyr) c.301A>T (p.Asn101Tyr) n.277A>T | |
2 | g.202467642dup | CA645294015 | BMPR2 | c.371dup (p.Asn124LysfsTer6) c.302dup (p.Asn101LysfsTer6) n.278dup | ClinVar dbSNP |
2 | g.202467642A>C | CA350399781 | BMPR2 | c.371A>C (p.Asn124Thr) c.302A>C (p.Asn101Thr) n.278A>C | |
2 | g.202467642A>G | CA350399782 | BMPR2 | c.371A>G (p.Asn124Ser) c.302A>G (p.Asn101Ser) n.278A>G | |
2 | g.202467642A>T | CA350399783 | BMPR2 | c.371A>T (p.Asn124Ile) c.302A>T (p.Asn101Ile) n.278A>T | |
2 | g.202467643T>A | CA350399784 | BMPR2 | c.372T>A (p.Asn124Lys) c.303T>A (p.Asn101Lys) n.279T>A | |
2 | g.202467643T>C | CA430903862 | BMPR2 | c.372T>C (p.Asn124=) c.303T>C (p.Asn101=) n.279T>C | |
2 | g.202467643T>G | CA350399785 | BMPR2 | c.372T>G (p.Asn124Lys) c.303T>G (p.Asn101Lys) n.279T>G | |
2 | g.202467644G>A | CA350399786 | BMPR2 | c.373G>A (p.Val125Ile) c.304G>A (p.Val102Ile) n.280G>A | |
2 | g.202467644G>C | CA350399787 | BMPR2 | c.373G>C (p.Val125Leu) c.304G>C (p.Val102Leu) n.280G>C | |
2 | g.202467644G>T | CA350399788 | BMPR2 | c.373G>T (p.Val125Phe) c.304G>T (p.Val102Phe) n.280G>T | |
2 | g.202467645T>A | CA350399789 | BMPR2 | c.374T>A (p.Val125Asp) c.305T>A (p.Val102Asp) n.281T>A | |
2 | g.202467645T>C | CA350399790 | BMPR2 | c.374T>C (p.Val125Ala) c.305T>C (p.Val102Ala) n.281T>C | |
2 | g.202467645T>G | CA350399791 | BMPR2 | c.374T>G (p.Val125Gly) c.305T>G (p.Val102Gly) n.281T>G | |
2 | g.202467646C>A | CA430903866 | BMPR2 | c.375C>A (p.Val125=) c.306C>A (p.Val102=) n.282C>A | gnomAD v4 |
2 | g.202467646C>G | CA430903865 | BMPR2 | c.375C>G (p.Val125=) c.306C>G (p.Val102=) n.282C>G | gnomAD v4 |
2 | g.202467646C>T | CA430903864 | BMPR2 | c.375C>T (p.Val125=) c.306C>T (p.Val102=) n.282C>T | |
2 | g.202467647A>C | CA350399794 | BMPR2 | c.376A>C (p.Asn126His) c.307A>C (p.Asn103His) n.283A>C | |
2 | g.202467647A>G | CA350399792 | BMPR2 | c.376A>G (p.Asn126Asp) c.307A>G (p.Asn103Asp) n.283A>G | |
2 | g.202467647A>T | CA350399793 | BMPR2 | c.376A>T (p.Asn126Tyr) c.307A>T (p.Asn103Tyr) n.283A>T | |
2 | g.202467648A= | CA1321510677 | BMPR2 | c.377A= (p.Asn126=) c.308A= (p.Asn103=) n.284A= | |
2 | g.202467648A>C | CA350399795 | BMPR2 | c.377A>C (p.Asn126Thr) c.308A>C (p.Asn103Thr) n.284A>C | |
2 | g.202467648A>G | CA323070 | BMPR2 | c.377A>G (p.Asn126Ser) c.308A>G (p.Asn103Ser) n.284A>G | ClinVar dbSNP |
2 | g.202467648A>T | CA350399796 | BMPR2 | c.377A>T (p.Asn126Ile) c.308A>T (p.Asn103Ile) n.284A>T | |
2 | g.202467649C>A | CA350399797 | BMPR2 | c.378C>A (p.Asn126Lys) c.309C>A (p.Asn103Lys) n.285C>A | |
2 | g.202467649C>G | CA350399798 | BMPR2 | c.378C>G (p.Asn126Lys) c.309C>G (p.Asn103Lys) n.285C>G | |
2 | g.202467649C>T | CA430903869 | BMPR2 | c.378C>T (p.Asn126=) c.309C>T (p.Asn103=) n.285C>T | |
2 | g.202467650T>A | CA350399799 | BMPR2 | c.379T>A (p.Phe127Ile) c.310T>A (p.Phe104Ile) n.286T>A | |
2 | g.202467650T>C | CA350399801 | BMPR2 | c.379T>C (p.Phe127Leu) c.310T>C (p.Phe104Leu) n.286T>C | |
2 | g.202467650T>G | CA350399800 | BMPR2 | c.379T>G (p.Phe127Val) c.310T>G (p.Phe104Val) n.286T>G | |
2 | g.202467651T>A | CA350399802 | BMPR2 | c.380T>A (p.Phe127Tyr) c.311T>A (p.Phe104Tyr) n.287T>A | |
2 | g.202467651T>C | CA350399803 | BMPR2 | c.380T>C (p.Phe127Ser) c.311T>C (p.Phe104Ser) n.287T>C | |
2 | g.202467651T>G | CA350399804 | BMPR2 | c.380T>G (p.Phe127Cys) c.311T>G (p.Phe104Cys) n.287T>G | |
2 | g.202467652T>A | CA350399805 | BMPR2 | c.381T>A (p.Phe127Leu) c.312T>A (p.Phe104Leu) n.288T>A | |
2 | g.202467652T>C | CA430903870 | BMPR2 | c.381T>C (p.Phe127=) c.312T>C (p.Phe104=) n.288T>C | gnomAD v4 |
2 | g.202467652T>G | CA350399806 | BMPR2 | c.381T>G (p.Phe127Leu) c.312T>G (p.Phe104Leu) n.288T>G | |
2 | g.202467653A>C | CA350399807 | BMPR2 | c.382A>C (p.Thr128Pro) c.313A>C (p.Thr105Pro) n.289A>C | |
2 | g.202467653A>G | CA350399808 | BMPR2 | c.382A>G (p.Thr128Ala) c.313A>G (p.Thr105Ala) n.289A>G | |
2 | g.202467653A>T | CA350399809 | BMPR2 | c.382A>T (p.Thr128Ser) c.313A>T (p.Thr105Ser) n.289A>T | |
2 | g.202467654C>A | CA350399810 | BMPR2 | c.383C>A (p.Thr128Asn) c.314C>A (p.Thr105Asn) n.290C>A | |
2 | g.202467654C>G | CA350399811 | BMPR2 | c.383C>G (p.Thr128Ser) c.314C>G (p.Thr105Ser) n.290C>G | |
2 | g.202467654C>T | CA350399812 | BMPR2 | c.383C>T (p.Thr128Ile) c.314C>T (p.Thr105Ile) n.290C>T | |
2 | g.202467655T>A | CA430903871 | BMPR2 | c.384T>A (p.Thr128=) c.315T>A (p.Thr105=) n.291T>A | |
2 | g.202467655T>C | CA430903872 | BMPR2 | c.384T>C (p.Thr128=) c.315T>C (p.Thr105=) n.291T>C | |
2 | g.202467655T>G | CA430903873 | BMPR2 | c.384T>G (p.Thr128=) c.315T>G (p.Thr105=) n.291T>G | |
2 | g.202467656G>A | CA350399815 | BMPR2 | c.385G>A (p.Glu129Lys) c.316G>A (p.Glu106Lys) n.292G>A | |
2 | g.202467656G>C | CA350399814 | BMPR2 | c.385G>C (p.Glu129Gln) c.316G>C (p.Glu106Gln) n.292G>C | |
2 | g.202467656G>T | CA350399813 | BMPR2 | c.385G>T (p.Glu129Ter) c.316G>T (p.Glu106Ter) n.292G>T | |
2 | g.202467657A>C | CA350399817 | BMPR2 | c.386A>C (p.Glu129Ala) c.317A>C (p.Glu106Ala) n.293A>C | |
2 | g.202467657A>G | CA350399816 | BMPR2 | c.386A>G (p.Glu129Gly) c.317A>G (p.Glu106Gly) n.293A>G | |
2 | g.202467657A>T | CA350399818 | BMPR2 | c.386A>T (p.Glu129Val) c.317A>T (p.Glu106Val) n.293A>T | |
2 | g.202467658G>A | CA430903874 | BMPR2 | c.387G>A (p.Glu129=) c.318G>A (p.Glu106=) n.294G>A | |
2 | g.202467658G>C | CA350399819 | BMPR2 | c.387G>C (p.Glu129Asp) c.318G>C (p.Glu106Asp) n.294G>C | gnomAD v4 |
2 | g.202467658G>T | CA350399820 | BMPR2 | c.387G>T (p.Glu129Asp) c.318G>T (p.Glu106Asp) n.294G>T | gnomAD v4 |
2 | g.202467659A>C | CA350399821 | BMPR2 | c.388A>C (p.Asn130His) c.319A>C (p.Asn107His) n.295A>C | |
2 | g.202467659A>G | CA350399822 | BMPR2 | c.388A>G (p.Asn130Asp) c.319A>G (p.Asn107Asp) n.295A>G | gnomAD v4 |
2 | g.202467659A>T | CA350399823 | BMPR2 | c.388A>T (p.Asn130Tyr) c.319A>T (p.Asn107Tyr) n.295A>T | |
2 | g.202467660A>C | CA350399824 | BMPR2 | c.389A>C (p.Asn130Thr) c.320A>C (p.Asn107Thr) n.296A>C | |
2 | g.202467660A>G | CA350399825 | BMPR2 | c.389A>G (p.Asn130Ser) c.320A>G (p.Asn107Ser) n.296A>G | COSMIC |
2 | g.202467660A>T | CA350399826 | BMPR2 | c.389A>T (p.Asn130Ile) c.320A>T (p.Asn107Ile) n.296A>T | |
2 | g.202467661T>A | CA350399827 | BMPR2 | c.390T>A (p.Asn130Lys) c.321T>A (p.Asn107Lys) n.297T>A | |
2 | g.202467661T>C | CA430903875 | BMPR2 | c.390T>C (p.Asn130=) c.321T>C (p.Asn107=) n.297T>C | |
2 | g.202467661T>G | CA350399828 | BMPR2 | c.390T>G (p.Asn130Lys) c.321T>G (p.Asn107Lys) n.297T>G | |
2 | g.202467662T>A | CA350399829 | BMPR2 | c.391T>A (p.Phe131Ile) c.322T>A (p.Phe108Ile) n.298T>A | |
2 | g.202467662T>C | CA350399830 | BMPR2 | c.391T>C (p.Phe131Leu) c.322T>C (p.Phe108Leu) n.298T>C | |
2 | g.202467662T>G | CA350399831 | BMPR2 | c.391T>G (p.Phe131Val) c.322T>G (p.Phe108Val) n.298T>G | |
2 | g.202467663T>A | CA350399834 | BMPR2 | c.392T>A (p.Phe131Tyr) c.323T>A (p.Phe108Tyr) n.299T>A | |
2 | g.202467663T>C | CA350399832 | BMPR2 | c.392T>C (p.Phe131Ser) c.323T>C (p.Phe108Ser) n.299T>C | |
2 | g.202467663T>G | CA350399833 | BMPR2 | c.392T>G (p.Phe131Cys) c.323T>G (p.Phe108Cys) n.299T>G | |
2 | g.202467664T>A | CA350399835 | BMPR2 | c.393T>A (p.Phe131Leu) c.324T>A (p.Phe108Leu) n.300T>A | |
2 | g.202467664T>C | CA430903876 | BMPR2 | c.393T>C (p.Phe131=) c.324T>C (p.Phe108=) n.300T>C | dbSNP |
2 | g.202467664T>G | CA350399836 | BMPR2 | c.393T>G (p.Phe131Leu) c.324T>G (p.Phe108Leu) n.300T>G | |
2 | g.202467664T= | CA1321510679 | BMPR2 | c.393T= (p.Phe131=) c.324T= (p.Phe108=) n.300T= | |
2 | g.202467665C>A | CA350399837 | BMPR2 | c.394C>A (p.Pro132Thr) c.325C>A (p.Pro109Thr) n.301C>A | |
2 | g.202467665C>G | CA350399838 | BMPR2 | c.394C>G (p.Pro132Ala) c.325C>G (p.Pro109Ala) n.301C>G | |
2 | g.202467665C>T | CA350399839 | BMPR2 | c.394C>T (p.Pro132Ser) c.325C>T (p.Pro109Ser) n.301C>T | |
2 | g.202467666C>A | CA350399840 | BMPR2 | c.395C>A (p.Pro132Gln) c.326C>A (p.Pro109Gln) n.302C>A | |
2 | g.202467666C>G | CA350399841 | BMPR2 | c.395C>G (p.Pro132Arg) c.326C>G (p.Pro109Arg) n.302C>G | |
2 | g.202467666C>T | CA350399842 | BMPR2 | c.395C>T (p.Pro132Leu) c.326C>T (p.Pro109Leu) n.302C>T | |
2 | g.202467667A= | CA1321510681 | BMPR2 | c.396A= (p.Pro132=) c.327A= (p.Pro109=) n.303A= | |
2 | g.202467667A>C | CA430903879 | BMPR2 | c.396A>C (p.Pro132=) c.327A>C (p.Pro109=) n.303A>C | dbSNP |
2 | g.202467667A>G | CA430903878 | BMPR2 | c.396A>G (p.Pro132=) c.327A>G (p.Pro109=) n.303A>G | dbSNP |
2 | g.202467667A>T | CA430903877 | BMPR2 | c.396A>T (p.Pro132=) c.327A>T (p.Pro109=) n.303A>T | |
2 | g.202467668C>A | CA350399843 | BMPR2 | c.397C>A (p.Pro133Thr) c.328C>A (p.Pro110Thr) n.304C>A | |
2 | g.202467668C>G | CA350399844 | BMPR2 | c.397C>G (p.Pro133Ala) c.328C>G (p.Pro110Ala) n.304C>G | |
2 | g.202467668C>T | CA350399845 | BMPR2 | c.397C>T (p.Pro133Ser) c.328C>T (p.Pro110Ser) n.304C>T | |
2 | g.202467669C>A | CA350399848 | BMPR2 | c.398C>A (p.Pro133His) c.329C>A (p.Pro110His) n.305C>A | |
2 | g.202467669C>G | CA350399847 | BMPR2 | c.398C>G (p.Pro133Arg) c.329C>G (p.Pro110Arg) n.305C>G | |
2 | g.202467669C>T | CA350399846 | BMPR2 | c.398C>T (p.Pro133Leu) c.329C>T (p.Pro110Leu) n.305C>T | gnomAD v4 |
2 | g.202467669_202467670delinsCT | CA1321510685 | BMPR2 | c.398_399delinsCT (p.Pro133=) c.329_330delinsCT (p.Pro110=) n.305_306delinsCT | |
2 | g.202467670del | CA645294016 | BMPR2 | c.399del (p.Pro134LeufsTer18) c.330del (p.Pro111LeufsTer18) n.306del | ClinVar dbSNP |
2 | g.202467670T>A | CA430903880 | BMPR2 | c.399T>A (p.Pro133=) c.330T>A (p.Pro110=) n.306T>A | |
2 | g.202467670T>C | CA430903882 | BMPR2 | c.399T>C (p.Pro133=) c.330T>C (p.Pro110=) n.306T>C | |
2 | g.202467670T>G | CA430903881 | BMPR2 | c.399T>G (p.Pro133=) c.330T>G (p.Pro110=) n.306T>G | |
2 | g.202467671C>A | CA350399849 | BMPR2 | c.400C>A (p.Pro134Thr) c.331C>A (p.Pro111Thr) n.307C>A | |
2 | g.202467671C>G | CA350399850 | BMPR2 | c.400C>G (p.Pro134Ala) c.331C>G (p.Pro111Ala) n.307C>G | |
2 | g.202467671C>T | CA350399851 | BMPR2 | c.400C>T (p.Pro134Ser) c.331C>T (p.Pro111Ser) n.307C>T | gnomAD v4 |
2 | g.202467672C>A | CA350399852 | BMPR2 | c.401C>A (p.Pro134His) c.332C>A (p.Pro111His) n.308C>A | |
2 | g.202467672C>G | CA350399853 | BMPR2 | c.401C>G (p.Pro134Arg) c.332C>G (p.Pro111Arg) n.308C>G | COSMIC |
2 | g.202467672C>T | CA350399854 | BMPR2 | c.401C>T (p.Pro134Leu) c.332C>T (p.Pro111Leu) n.308C>T | gnomAD v4 |
2 | g.202467673T>A | CA2061093 | BMPR2 | c.402T>A (p.Pro134=) c.333T>A (p.Pro111=) n.309T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467673T>C | CA430903883 | BMPR2 | c.402T>C (p.Pro134=) c.333T>C (p.Pro111=) n.309T>C | |
2 | g.202467673T>G | CA430903884 | BMPR2 | c.402T>G (p.Pro134=) c.333T>G (p.Pro111=) n.309T>G | |
2 | g.202467673T= | CA1321510689 | BMPR2 | c.402T= (p.Pro134=) c.333T= (p.Pro111=) n.309T= | |
2 | g.202467674G>A | CA350399855 | BMPR2 | c.403G>A (p.Asp135Asn) c.334G>A (p.Asp112Asn) n.310G>A | |
2 | g.202467674G>C | CA350399856 | BMPR2 | c.403G>C (p.Asp135His) c.334G>C (p.Asp112His) n.310G>C | |
2 | g.202467674G>T | CA350399857 | BMPR2 | c.403G>T (p.Asp135Tyr) c.334G>T (p.Asp112Tyr) n.310G>T | |
2 | g.202467674_202467676delinsGAC | CA1321510692 | BMPR2 | c.403_405delinsGAC (p.Asp135=) c.334_336delinsGAC (p.Asp112=) n.310_312delinsGAC | |
2 | g.202467674_202467679delinsGACACA | CA1321510693 | BMPR2 | c.403_408delinsGACACA (p.Asp135=) c.334_339delinsGACACA (p.Asp112=) n.310_315delinsGACACA | |
2 | g.202467675A>C | CA350399858 | BMPR2 | c.404A>C (p.Asp135Ala) c.335A>C (p.Asp112Ala) n.311A>C | |
2 | g.202467675A>G | CA350399859 | BMPR2 | c.404A>G (p.Asp135Gly) c.335A>G (p.Asp112Gly) n.311A>G | |
2 | g.202467675A>T | CA350399860 | BMPR2 | c.404A>T (p.Asp135Val) c.335A>T (p.Asp112Val) n.311A>T | |
2 | g.202467678_202467679del | CA645294018 | BMPR2 | c.407_408del (p.Thr136AsnfsTer10) c.338_339del (p.Thr113AsnfsTer10) n.314_315del | ClinVar dbSNP |
2 | g.202467679_202467683del | CA645294017 | BMPR2 | c.408_412del (p.Pro138GlnfsTer7) c.339_343del (p.Pro115GlnfsTer7) n.315_319del | ClinVar dbSNP |
2 | g.202467676C>A | CA350399862 | BMPR2 | c.405C>A (p.Asp135Glu) c.336C>A (p.Asp112Glu) n.312C>A | |
2 | g.202467676C>G | CA350399861 | BMPR2 | c.405C>G (p.Asp135Glu) c.336C>G (p.Asp112Glu) n.312C>G | |
2 | g.202467676C>T | CA430903885 | BMPR2 | c.405C>T (p.Asp135=) c.336C>T (p.Asp112=) n.312C>T | |
2 | g.202467677A>C | CA350399863 | BMPR2 | c.406A>C (p.Thr136Pro) c.337A>C (p.Thr113Pro) n.313A>C | |
2 | g.202467677A>G | CA350399864 | BMPR2 | c.406A>G (p.Thr136Ala) c.337A>G (p.Thr113Ala) n.313A>G | |
2 | g.202467677A>T | CA350399865 | BMPR2 | c.406A>T (p.Thr136Ser) c.337A>T (p.Thr113Ser) n.313A>T | |
2 | g.202467680_202467682del | CA2662704388 | BMPR2 | c.409_411del (p.Thr137del) c.340_342del (p.Thr114del) n.316_318del | gnomAD v4 |
2 | g.202467678C>A | CA350399866 | BMPR2 | c.407C>A (p.Thr136Lys) c.338C>A (p.Thr113Lys) n.314C>A | |
2 | g.202467678C>G | CA350399867 | BMPR2 | c.407C>G (p.Thr136Arg) c.338C>G (p.Thr113Arg) n.314C>G | |
2 | g.202467678C>T | CA350399868 | BMPR2 | c.407C>T (p.Thr136Ile) c.338C>T (p.Thr113Ile) n.314C>T | |
2 | g.202467679A= | CA1321510703 | BMPR2 | c.408A= (p.Thr136=) c.339A= (p.Thr113=) n.315A= | |
2 | g.202467679A>C | CA430903887 | BMPR2 | c.408A>C (p.Thr136=) c.339A>C (p.Thr113=) n.315A>C | |
2 | g.202467679A>G | CA2061094 | BMPR2 | c.408A>G (p.Thr136=) c.339A>G (p.Thr113=) n.315A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467679A>T | CA430903886 | BMPR2 | c.408A>T (p.Thr136=) c.339A>T (p.Thr113=) n.315A>T | |
2 | g.202467680dup | CA2573134354 | BMPR2 | c.409dup (p.Thr137AsnfsTer10) c.340dup (p.Thr114AsnfsTer10) n.316dup | ClinVar dbSNP |
2 | g.202467680A= | CA1321510709 | BMPR2 | c.409A= (p.Thr137=) c.340A= (p.Thr114=) n.316A= | |
2 | g.202467680A>C | CA64532513 | BMPR2 | c.409A>C (p.Thr137Pro) c.340A>C (p.Thr114Pro) n.316A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467680A>G | CA350399869 | BMPR2 | c.409A>G (p.Thr137Ala) c.340A>G (p.Thr114Ala) n.316A>G | dbSNP gnomAD v4 |
2 | g.202467680A>T | CA350399870 | BMPR2 | c.409A>T (p.Thr137Ser) c.340A>T (p.Thr114Ser) n.316A>T | |
2 | g.202467681C>A | CA350399871 | BMPR2 | c.410C>A (p.Thr137Lys) c.341C>A (p.Thr114Lys) n.317C>A | |
2 | g.202467681C>G | CA350399872 | BMPR2 | c.410C>G (p.Thr137Arg) c.341C>G (p.Thr114Arg) n.317C>G | |
2 | g.202467681C>T | CA350399873 | BMPR2 | c.410C>T (p.Thr137Ile) c.341C>T (p.Thr114Ile) n.317C>T | |
2 | g.202467682A= | CA1321510715 | BMPR2 | c.411A= (p.Thr137=) c.342A= (p.Thr114=) n.318A= | |
2 | g.202467682A>C | CA430903888 | BMPR2 | c.411A>C (p.Thr137=) c.342A>C (p.Thr114=) n.318A>C | |
2 | g.202467682A>G | CA2061095 | BMPR2 | c.411A>G (p.Thr137=) c.342A>G (p.Thr114=) n.318A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467682A>T | CA430903889 | BMPR2 | c.411A>T (p.Thr137=) c.342A>T (p.Thr114=) n.318A>T | dbSNP |
2 | g.202467683C>A | CA350399874 | BMPR2 | c.412C>A (p.Pro138Thr) c.343C>A (p.Pro115Thr) n.319C>A | gnomAD v4 COSMIC |
2 | g.202467683C= | CA1321510717 | BMPR2 | c.412C= (p.Pro138=) c.343C= (p.Pro115=) n.319C= | |
2 | g.202467683C>G | CA350399875 | BMPR2 | c.412C>G (p.Pro138Ala) c.343C>G (p.Pro115Ala) n.319C>G | |
2 | g.202467683C>T | CA64532514 | BMPR2 | c.412C>T (p.Pro138Ser) c.343C>T (p.Pro115Ser) n.319C>T | dbSNP gnomAD v4 |
2 | g.202467684C>A | CA350399876 | BMPR2 | c.413C>A (p.Pro138Gln) c.344C>A (p.Pro115Gln) n.320C>A | |
2 | g.202467684C>G | CA350399878 | BMPR2 | c.413C>G (p.Pro138Arg) c.344C>G (p.Pro115Arg) n.320C>G | |
2 | g.202467684C>T | CA350399877 | BMPR2 | c.413C>T (p.Pro138Leu) c.344C>T (p.Pro115Leu) n.320C>T | |
2 | g.202467685A= | CA1321510721 | BMPR2 | c.414A= (p.Pro138=) c.345A= (p.Pro115=) n.321A= | |
2 | g.202467685A>C | CA430903890 | BMPR2 | c.414A>C (p.Pro138=) c.345A>C (p.Pro115=) n.321A>C | |
2 | g.202467685A>G | CA2061096 | BMPR2 | c.414A>G (p.Pro138=) c.345A>G (p.Pro115=) n.321A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467685A>T | CA430903891 | BMPR2 | c.414A>T (p.Pro138=) c.345A>T (p.Pro115=) n.321A>T | |
2 | g.202467686C>A | CA350399881 | BMPR2 | c.415C>A (p.Leu139Ile) c.346C>A (p.Leu116Ile) n.322C>A | |
2 | g.202467686C= | CA1321510723 | BMPR2 | c.415C= (p.Leu139=) c.346C= (p.Leu116=) n.322C= | |
2 | g.202467686C>G | CA350399879 | BMPR2 | c.415C>G (p.Leu139Val) c.346C>G (p.Leu116Val) n.322C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467686C>T | CA350399880 | BMPR2 | c.415C>T (p.Leu139Phe) c.346C>T (p.Leu116Phe) n.322C>T | dbSNP |
2 | g.202467686_202467690delinsCTCAG | CA1321510725 | BMPR2 | c.415_418+1delinsCTCAG c.346_349+1delinsCTCAG n.322_325+1delinsCTCAG | |
2 | g.202467687T>A | CA350399882 | BMPR2 | c.416T>A (p.Leu139His) c.347T>A (p.Leu116His) n.323T>A | |
2 | g.202467687T>C | CA350399883 | BMPR2 | c.416T>C (p.Leu139Pro) c.347T>C (p.Leu116Pro) n.323T>C | |
2 | g.202467687T>G | CA350399884 | BMPR2 | c.416T>G (p.Leu139Arg) c.347T>G (p.Leu116Arg) n.323T>G | |
2 | g.202467688_202467691del | CA915941501 | BMPR2 | c.417_418+2del c.348_349+2del n.324_325+2del | ClinVar dbSNP |
2 | g.202467688C>A | CA430903892 | BMPR2 | c.417C>A (p.Leu139=) c.348C>A (p.Leu116=) n.324C>A | gnomAD v4 |
2 | g.202467688C= | CA1321510740 | BMPR2 | c.417C= (p.Leu139=) c.348C= (p.Leu116=) n.324C= | |
2 | g.202467688C>G | CA430903893 | BMPR2 | c.417C>G (p.Leu139=) c.348C>G (p.Leu116=) n.324C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467688C>T | CA2061097 | BMPR2 | c.417C>T (p.Leu139=) c.348C>T (p.Leu116=) n.324C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467688_202467692delinsCAGTA | CA1321510738 | BMPR2 | c.417_418+3delinsCAGTA c.348_349+3delinsCAGTA n.324_325+3delinsCAGTA | |
2 | g.202467689A>C | CA350399885 | BMPR2 | c.418A>C (p.Ser140Arg) c.349A>C (p.Ser117Arg) n.325A>C | |
2 | g.202467689A>G | CA350399886 | BMPR2 | c.418A>G (p.Ser140Gly) c.349A>G (p.Ser117Gly) n.325A>G | |
2 | g.202467689A>T | CA350399887 | BMPR2 | c.418A>T (p.Ser140Cys) c.349A>T (p.Ser117Cys) n.325A>T | |
2 | g.202467694_202467697del | CA645294019 | BMPR2 | c.418+5_418+8del c.349+5_349+8del n.325+5_325+8del | ClinVar dbSNP |
2 | g.202467690del | CA2586965560 | BMPR2 | c.418+1del (n.418+1del) c.349+1del (n.349+1del) n.325+1del | |
2 | g.202467690G>A | CA350399888 | BMPR2 | c.418+1G>A (n.418+1G>A) c.349+1G>A (n.349+1G>A) n.325+1G>A | |
2 | g.202467690G>C | CA350399889 | BMPR2 | c.418+1G>C (n.418+1G>C) c.349+1G>C (n.349+1G>C) n.325+1G>C | ClinVar dbSNP |
2 | g.202467690G= | CA1321510752 | BMPR2 | c.418+1G= (n.418+1G=) c.349+1G= (n.349+1G=) n.325+1G= | |
2 | g.202467690G>T | CA350399890 | BMPR2 | c.418+1G>T (n.418+1G>T) c.349+1G>T (n.349+1G>T) n.325+1G>T | ClinVar dbSNP |
2 | g.202467691T>A | CA350399893 | BMPR2 | c.418+2T>A (n.418+2T>A) c.349+2T>A (n.349+2T>A) n.325+2T>A | |
2 | g.202467691T>C | CA350399891 | BMPR2 | c.418+2T>C (n.418+2T>C) c.349+2T>C (n.349+2T>C) n.325+2T>C | |
2 | g.202467691T>G | CA350399892 | BMPR2 | c.418+2T>G (n.418+2T>G) c.349+2T>G (n.349+2T>G) n.325+2T>G | |
2 | g.202467691_202467693delinsGAG | CA645294020 | BMPR2 | c.418+2_418+4delinsGAG (n.418+2_418+4delinsGAG) c.349+2_349+4delinsGAG (n.349+2_349+4delinsGAG) n.325+2_325+4delinsGAG | ClinVar dbSNP |
2 | g.202467691_202467693delinsTAA | CA1321510759 | BMPR2 | c.418+2_418+4delinsTAA (n.418+2_418+4delinsTAA) c.349+2_349+4delinsTAA (n.349+2_349+4delinsTAA) n.325+2_325+4delinsTAA | |
2 | g.202467691_202467696delinsTAAGTA | CA1321510762 | BMPR2 | c.418+2_418+7delinsTAAGTA (n.418+2_418+7delinsTAAGTA) c.349+2_349+7delinsTAAGTA (n.349+2_349+7delinsTAAGTA) n.325+2_325+7delinsTAAGTA | |
2 | g.202467692A= | CA1321510764 | BMPR2 | c.418+3A= (n.418+3A=) c.349+3A= (n.349+3A=) n.325+3A= | |
2 | g.202467692A>T | CA645294021 | BMPR2 | c.418+3A>T (n.418+3A>T) c.349+3A>T (n.349+3A>T) n.325+3A>T | ClinVar dbSNP |
2 | g.202467698_202467702del | CA539387820 | BMPR2 | c.418+9_418+13del (n.418+9_418+13del) c.349+9_349+13del (n.349+9_349+13del) n.325+9_325+13del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467693A>G | CA2586965561 | BMPR2 | c.418+4A>G (n.418+4A>G) c.349+4A>G (n.349+4A>G) n.325+4A>G | |
2 | g.202467694G>A | CA645294022 | BMPR2 | c.418+5G>A (n.418+5G>A) c.349+5G>A (n.349+5G>A) n.325+5G>A | ClinVar dbSNP |
2 | g.202467694G= | CA1321510770 | BMPR2 | c.418+5G= (n.418+5G=) c.349+5G= (n.349+5G=) n.325+5G= | |
2 | g.202467697A>G | CA2662704389 | BMPR2 | c.418+8A>G (n.418+8A>G) c.349+8A>G (n.349+8A>G) n.325+8A>G | gnomAD v4 |
2 | g.202467700del | CA2577215520 | BMPR2 | c.418+11del (n.418+11del) c.349+11del (n.349+11del) n.325+11del | |
2 | g.202467700T>A | CA2061098 | BMPR2 | c.418+11T>A (n.418+11T>A) c.349+11T>A (n.349+11T>A) n.325+11T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467700T= | CA1321510772 | BMPR2 | c.418+11T= (n.418+11T=) c.349+11T= (n.349+11T=) n.325+11T= | |
2 | g.202467702A= | CA1321510774 | BMPR2 | c.418+13A= (n.418+13A=) c.349+13A= (n.349+13A=) n.325+13A= | |
2 | g.202467702A>C | CA2061099 | BMPR2 | c.418+13A>C (n.418+13A>C) c.349+13A>C (n.349+13A>C) n.325+13A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467703C>A | CA2753903982 | BMPR2 | c.418+14C>A (n.418+14C>A) c.349+14C>A (n.349+14C>A) n.325+14C>A | |
2 | g.202467703C= | CA1321510777 | BMPR2 | c.418+14C= (n.418+14C=) c.349+14C= (n.349+14C=) n.325+14C= | |
2 | g.202467703C>G | CA539387821 | BMPR2 | c.418+14C>G (n.418+14C>G) c.349+14C>G (n.349+14C>G) n.325+14C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467704del | CA2662704390 | BMPR2 | c.418+15del (n.418+15del) c.349+15del (n.349+15del) n.325+15del | gnomAD v4 |
2 | g.202467705A= | CA1321510779 | BMPR2 | c.418+16A= (n.418+16A=) c.349+16A= (n.349+16A=) n.325+16A= | |
2 | g.202467705A>G | CA2061100 | BMPR2 | c.418+16A>G (n.418+16A>G) c.349+16A>G (n.349+16A>G) n.325+16A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467706A= | CA1321510781 | BMPR2 | c.418+17A= (n.418+17A=) c.349+17A= (n.349+17A=) n.325+17A= | |
2 | g.202467706A>G | CA2061101 | BMPR2 | c.418+17A>G (n.418+17A>G) c.349+17A>G (n.349+17A>G) n.325+17A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467708T>A | CA539387822 | BMPR2 | c.418+19T>A (n.418+19T>A) c.349+19T>A (n.349+19T>A) n.325+19T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467708T>C | CA2577215521 | BMPR2 | c.418+19T>C (n.418+19T>C) c.349+19T>C (n.349+19T>C) n.325+19T>C | gnomAD v4 |
2 | g.202467708T= | CA1321510784 | BMPR2 | c.418+19T= (n.418+19T=) c.349+19T= (n.349+19T=) n.325+19T= | |
2 | g.202467711T>C | CA430903894 | BMPR2 | c.418+22T>C (n.418+22T>C) c.349+22T>C (n.349+22T>C) n.325+22T>C | |
2 | g.202467711T>G | CA2662704391 | BMPR2 | c.418+22T>G (n.418+22T>G) c.349+22T>G (n.349+22T>G) n.325+22T>G | gnomAD v4 |
2 | g.202467715del | CA2662704392 | BMPR2 | c.418+26del (n.418+26del) c.349+26del (n.349+26del) n.325+26del | gnomAD v4 |
2 | g.202467714T>A | CA539387823 | BMPR2 | c.418+25T>A (n.418+25T>A) c.349+25T>A (n.349+25T>A) n.325+25T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467714T>C | CA2662704393 | BMPR2 | c.418+25T>C (n.418+25T>C) c.349+25T>C (n.349+25T>C) n.325+25T>C | gnomAD v4 |
2 | g.202467714T= | CA1321510785 | BMPR2 | c.418+25T= (n.418+25T=) c.349+25T= (n.349+25T=) n.325+25T= | |
2 | g.202467716G>A | CA647618504 | BMPR2 | c.418+27G>A (n.418+27G>A) c.349+27G>A (n.349+27G>A) n.325+27G>A | COSMIC |
2 | g.202467718A= | CA1321510789 | BMPR2 | c.418+29A= (n.418+29A=) c.349+29A= (n.349+29A=) n.325+29A= | |
2 | g.202467718A>G | CA2061102 | BMPR2 | c.418+29A>G (n.418+29A>G) c.349+29A>G (n.349+29A>G) n.325+29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467721T>G | CA1321510795 | BMPR2 | c.418+32T>G (n.418+32T>G) c.349+32T>G (n.349+32T>G) n.325+32T>G | dbSNP |
2 | g.202467721T= | CA1321510793 | BMPR2 | c.418+32T= (n.418+32T=) c.349+32T= (n.349+32T=) n.325+32T= | |
2 | g.202467722C>T | CA2662704394 | BMPR2 | c.418+33C>T (n.418+33C>T) c.349+33C>T (n.349+33C>T) n.325+33C>T | gnomAD v4 |
2 | g.202467723C= | CA1321510800 | BMPR2 | c.418+34C= (n.418+34C=) c.349+34C= (n.349+34C=) n.325+34C= | |
2 | g.202467723C>G | CA539014684 | BMPR2 | c.418+34C>G (n.418+34C>G) c.349+34C>G (n.349+34C>G) n.325+34C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467723C>T | CA2061103 | BMPR2 | c.418+34C>T (n.418+34C>T) c.349+34C>T (n.349+34C>T) n.325+34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467724T>A | CA2061104 | BMPR2 | c.418+35T>A (n.418+35T>A) c.349+35T>A (n.349+35T>A) n.325+35T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467724T>C | CA2662704395 | BMPR2 | c.418+35T>C (n.418+35T>C) c.349+35T>C (n.349+35T>C) n.325+35T>C | gnomAD v4 |
2 | g.202467724T= | CA1321510804 | BMPR2 | c.418+35T= (n.418+35T=) c.349+35T= (n.349+35T=) n.325+35T= | |
2 | g.202467725T>C | CA2662704396 | BMPR2 | c.418+36T>C (n.418+36T>C) c.349+36T>C (n.349+36T>C) n.325+36T>C | gnomAD v4 |
2 | g.202467727C>A | CA763419478 | BMPR2 | c.418+38C>A (n.418+38C>A) c.349+38C>A (n.349+38C>A) n.325+38C>A | dbSNP gnomAD v4 |
2 | g.202467727C= | CA1321510808 | BMPR2 | c.418+38C= (n.418+38C=) c.349+38C= (n.349+38C=) n.325+38C= | |
2 | g.202467727C>T | CA2061105 | BMPR2 | c.418+38C>T (n.418+38C>T) c.349+38C>T (n.349+38C>T) n.325+38C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202467728T>C | CA2662704397 | BMPR2 | c.418+39T>C (n.418+39T>C) c.349+39T>C (n.349+39T>C) n.325+39T>C | gnomAD v4 |
2 | g.202467728_202467729delinsTC | CA1321510810 | BMPR2 | c.418+39_418+40delinsTC (n.418+39_418+40delinsTC) c.349+39_349+40delinsTC (n.349+39_349+40delinsTC) n.325+39_325+40delinsTC | |
2 | g.202467730del | CA2061106 | BMPR2 | c.418+41del (n.418+41del) c.349+41del (n.349+41del) n.325+41del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467730C>A | CA2662704398 | BMPR2 | c.418+41C>A (n.418+41C>A) c.349+41C>A (n.349+41C>A) n.325+41C>A | gnomAD v4 |
2 | g.202467732A= | CA1321510813 | BMPR2 | c.418+43A= (n.418+43A=) c.349+43A= (n.349+43A=) n.325+43A= | |
2 | g.202467732A>G | CA2061107 | BMPR2 | c.418+43A>G (n.418+43A>G) c.349+43A>G (n.349+43A>G) n.325+43A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467732A>T | CA2753903983 | BMPR2 | c.418+43A>T (n.418+43A>T) c.349+43A>T (n.349+43A>T) n.325+43A>T | |
2 | g.202467735A= | CA1321510815 | BMPR2 | c.418+46A= (n.418+46A=) c.349+46A= (n.349+46A=) n.325+46A= | |
2 | g.202467735A>G | CA64532515 | BMPR2 | c.418+46A>G (n.418+46A>G) c.349+46A>G (n.349+46A>G) n.325+46A>G | dbSNP gnomAD v4 |
2 | g.202467735_202467736delinsAT | CA1321510816 | BMPR2 | c.418+46_418+47delinsAT (n.418+46_418+47delinsAT) c.349+46_349+47delinsAT (n.349+46_349+47delinsAT) n.325+46_325+47delinsAT | |
2 | g.202467736T>G | CA2061108 | BMPR2 | c.418+47T>G (n.418+47T>G) c.349+47T>G (n.349+47T>G) n.325+47T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202467736T= | CA1321510819 | BMPR2 | c.418+47T= (n.418+47T=) c.349+47T= (n.349+47T=) n.325+47T= | |
2 | g.202467738del | CA539014691 | BMPR2 | c.418+49del (n.418+49del) c.349+49del (n.349+49del) n.325+49del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202467737T>A | CA1041294284 | BMPR2 | c.418+48T>A (n.418+48T>A) c.349+48T>A (n.349+48T>A) n.325+48T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202467737T>G | CA2662704399 | BMPR2 | c.418+48T>G (n.418+48T>G) c.349+48T>G (n.349+48T>G) n.325+48T>G | gnomAD v4 |
2 | g.202467737T= | CA1321510823 | BMPR2 | c.418+48T= (n.418+48T=) c.349+48T= (n.349+48T=) n.325+48T= |