2 | g.202369396_202377723del | CA1139657640 | | | ClinVar |
2 | g.202373247_202381017del | CA915942366 | | | ClinVar |
2 | g.202377671G>A | CA763419171 | BMPR2 | c.76+121G>A (n.76+121G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377671G= | CA1321474787 | BMPR2 | c.76+121G= (n.76+121G=)
| |
2 | g.202377671G>T | CA2662704071 | BMPR2 | c.76+121G>T (n.76+121G>T)
| gnomAD v4 |
2 | g.202377672del | CA2662704067 | BMPR2 | c.76+122del (n.76+122del)
| gnomAD v4 |
2 | g.202377672G>C | CA2662704074 | BMPR2 | c.76+122G>C (n.76+122G>C)
| gnomAD v4 |
2 | g.202377673A>C | CA2662704076 | BMPR2 | c.76+123A>C (n.76+123A>C)
| gnomAD v4 |
2 | g.202377673A>G | CA2662704078 | BMPR2 | c.76+123A>G (n.76+123A>G)
| gnomAD v4 |
2 | g.202377673_202377692delinsAGCTGCGACCCGGTGCCTGC | CA1321474788 | BMPR2 | c.76+123_76+142delinsAGCTGCGACCCGGTGCCTGC (n.76+123_76+142delinsAGCTGCGACCCGGTGCCTGC)
| |
2 | g.202377674G>A | CA1321474789 | BMPR2 | c.76+124G>A (n.76+124G>A)
| dbSNP gnomAD v4 |
2 | g.202377674G= | CA1321474790 | BMPR2 | c.76+124G= (n.76+124G=)
| |
2 | g.202377674G>T | CA2662704081 | BMPR2 | c.76+124G>T (n.76+124G>T)
| gnomAD v4 |
2 | g.202377676_202377694del | CA539001161 | BMPR2 | c.76+126_76+144del (n.76+126_76+144del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377675C>A | CA2662704084 | BMPR2 | c.76+125C>A (n.76+125C>A)
| gnomAD v4 |
2 | g.202377675C>T | CA2662704085 | BMPR2 | c.76+125C>T (n.76+125C>T)
| gnomAD v4 |
2 | g.202377676T>C | CA2662704088 | BMPR2 | c.76+126T>C (n.76+126T>C)
| gnomAD v4 |
2 | g.202377676T>G | CA1321474791 | BMPR2 | c.76+126T>G (n.76+126T>G)
| dbSNP gnomAD v4 |
2 | g.202377676T= | CA1321474792 | BMPR2 | c.76+126T= (n.76+126T=)
| |
2 | g.202377678C>A | CA2662704091 | BMPR2 | c.76+128C>A (n.76+128C>A)
| gnomAD v4 |
2 | g.202377678C>T | CA2662704092 | BMPR2 | c.76+128C>T (n.76+128C>T)
| gnomAD v4 |
2 | g.202377679del | CA2662704094 | BMPR2 | c.76+129del (n.76+129del)
| gnomAD v4 |
2 | g.202377679G>A | CA2662704096 | BMPR2 | c.76+129G>A (n.76+129G>A)
| gnomAD v4 |
2 | g.202377679G>T | CA2662704097 | BMPR2 | c.76+129G>T (n.76+129G>T)
| gnomAD v4 |
2 | g.202377680A= | CA1321474793 | BMPR2 | c.76+130A= (n.76+130A=)
| |
2 | g.202377680A>G | CA2662704099 | BMPR2 | c.76+130A>G (n.76+130A>G)
| gnomAD v4 |
2 | g.202377683dup | CA64522382 | BMPR2 | c.76+133dup (n.76+133dup)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377682C>A | CA2662704101 | BMPR2 | c.76+132C>A (n.76+132C>A)
| gnomAD v4 |
2 | g.202377682C>T | CA2662704103 | BMPR2 | c.76+132C>T (n.76+132C>T)
| gnomAD v4 |
2 | g.202377683C>A | CA2662704107 | BMPR2 | c.76+133C>A (n.76+133C>A)
| gnomAD v4 |
2 | g.202377683C= | CA1321474795 | BMPR2 | c.76+133C= (n.76+133C=)
| |
2 | g.202377683C>G | CA2662704111 | BMPR2 | c.76+133C>G (n.76+133C>G)
| gnomAD v4 |
2 | g.202377683C>T | CA1321474794 | BMPR2 | c.76+133C>T (n.76+133C>T)
| dbSNP gnomAD v4 |
2 | g.202377684G>A | CA2662704114 | BMPR2 | c.76+134G>A (n.76+134G>A)
| gnomAD v4 |
2 | g.202377684G>T | CA2662704116 | BMPR2 | c.76+134G>T (n.76+134G>T)
| gnomAD v4 |
2 | g.202377685G>A | CA2662704117 | BMPR2 | c.76+135G>A (n.76+135G>A)
| gnomAD v4 |
2 | g.202377685G= | CA1321474797 | BMPR2 | c.76+135G= (n.76+135G=)
| |
2 | g.202377685G>T | CA1321474796 | BMPR2 | c.76+135G>T (n.76+135G>T)
| dbSNP |
2 | g.202377687G>A | CA763419175 | BMPR2 | c.76+137G>A (n.76+137G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377687G>C | CA2662704124 | BMPR2 | c.76+137G>C (n.76+137G>C)
| gnomAD v4 |
2 | g.202377687G= | CA1321474798 | BMPR2 | c.76+137G= (n.76+137G=)
| |
2 | g.202377687G>T | CA763419179 | BMPR2 | c.76+137G>T (n.76+137G>T)
| dbSNP gnomAD v4 |
2 | g.202377688C>A | CA2662704128 | BMPR2 | c.76+138C>A (n.76+138C>A)
| gnomAD v4 |
2 | g.202377688C= | CA1321474799 | BMPR2 | c.76+138C= (n.76+138C=)
| |
2 | g.202377688C>T | CA64522383 | BMPR2 | c.76+138C>T (n.76+138C>T)
| dbSNP gnomAD v4 |
2 | g.202377689C>A | CA2662704133 | BMPR2 | c.76+139C>A (n.76+139C>A)
| gnomAD v4 |
2 | g.202377690T>A | CA2662704134 | BMPR2 | c.76+140T>A (n.76+140T>A)
| gnomAD v4 |
2 | g.202377690T>C | CA2662704135 | BMPR2 | c.76+140T>C (n.76+140T>C)
| gnomAD v4 |
2 | g.202377691G>A | CA2662704136 | BMPR2 | c.76+141G>A (n.76+141G>A)
| gnomAD v4 |
2 | g.202377691G>T | CA2662704137 | BMPR2 | c.76+141G>T (n.76+141G>T)
| gnomAD v4 |
2 | g.202377692C>A | CA2662704142 | BMPR2 | c.76+142C>A (n.76+142C>A)
| gnomAD v4 |
2 | g.202377692C= | CA1321474800 | BMPR2 | c.76+142C= (n.76+142C=)
| |
2 | g.202377692C>G | CA763419183 | BMPR2 | c.76+142C>G (n.76+142C>G)
| dbSNP gnomAD v4 |
2 | g.202377692C>T | CA64522384 | BMPR2 | c.76+142C>T (n.76+142C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377694C>A | CA2662704147 | BMPR2 | c.76+144C>A (n.76+144C>A)
| gnomAD v4 |
2 | g.202377694C= | CA1321474801 | BMPR2 | c.76+144C= (n.76+144C=)
| |
2 | g.202377694C>T | CA1321474802 | BMPR2 | c.76+144C>T (n.76+144C>T)
| dbSNP gnomAD v4 |
2 | g.202377695G>A | CA1321474803 | BMPR2 | c.76+145G>A (n.76+145G>A)
| dbSNP gnomAD v4 |
2 | g.202377695G>C | CA2662704152 | BMPR2 | c.76+145G>C (n.76+145G>C)
| gnomAD v4 |
2 | g.202377695G= | CA1321474804 | BMPR2 | c.76+145G= (n.76+145G=)
| |
2 | g.202377695G>T | CA539001163 | BMPR2 | c.76+145G>T (n.76+145G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377696C>A | CA2662704155 | BMPR2 | c.76+146C>A (n.76+146C>A)
| gnomAD v4 |
2 | g.202377696C= | CA1321474805 | BMPR2 | c.76+146C= (n.76+146C=)
| |
2 | g.202377696C>T | CA64522385 | BMPR2 | c.76+146C>T (n.76+146C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377697C>T | CA2662704160 | BMPR2 | c.76+147C>T (n.76+147C>T)
| gnomAD v4 |
2 | g.202377698T>C | CA1321474807 | BMPR2 | c.76+148T>C (n.76+148T>C)
| dbSNP gnomAD v4 |
2 | g.202377698T>G | CA1041327618 | BMPR2 | c.76+148T>G (n.76+148T>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377698T= | CA1321474806 | BMPR2 | c.76+148T= (n.76+148T=)
| |
2 | g.202377699G>A | CA2662704166 | BMPR2 | c.76+149G>A (n.76+149G>A)
| gnomAD v4 |
2 | g.202377700C>A | CA2662704169 | BMPR2 | c.76+150C>A (n.76+150C>A)
| gnomAD v4 |
2 | g.202377700C>T | CA2662704170 | BMPR2 | c.76+150C>T (n.76+150C>T)
| gnomAD v4 |
2 | g.202377703del | CA2662704168 | BMPR2 | c.76+153del (n.76+153del)
| gnomAD v4 |
2 | g.202377701C>A | CA2662704172 | BMPR2 | c.76+151C>A (n.76+151C>A)
| gnomAD v4 |
2 | g.202377701C= | CA1321474808 | BMPR2 | c.76+151C= (n.76+151C=)
| |
2 | g.202377701C>G | CA1041327620 | BMPR2 | c.76+151C>G (n.76+151C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377701C>T | CA2662704173 | BMPR2 | c.76+151C>T (n.76+151C>T)
| gnomAD v4 |
2 | g.202377702C>A | CA2662704176 | BMPR2 | c.76+152C>A (n.76+152C>A)
| gnomAD v4 |
2 | g.202377702C= | CA1321474809 | BMPR2 | c.76+152C= (n.76+152C=)
| |
2 | g.202377702C>G | CA763419191 | BMPR2 | c.76+152C>G (n.76+152C>G)
| dbSNP |
2 | g.202377702C>T | CA2662704175 | BMPR2 | c.76+152C>T (n.76+152C>T)
| gnomAD v4 |
2 | g.202377703C= | CA1321474810 | BMPR2 | c.76+153C= (n.76+153C=)
| |
2 | g.202377703C>G | CA64522386 | BMPR2 | c.76+153C>G (n.76+153C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377704A= | CA1321474811 | BMPR2 | c.76+154A= (n.76+154A=)
| |
2 | g.202377704A>G | CA64522387 | BMPR2 | c.76+154A>G (n.76+154A>G)
| dbSNP |
2 | g.202377706G>A | CA763419194 | BMPR2 | c.76+156G>A (n.76+156G>A)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377706G= | CA1321474812 | BMPR2 | c.76+156G= (n.76+156G=)
| |
2 | g.202377706G>T | CA64522388 | BMPR2 | c.76+156G>T (n.76+156G>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377707C>A | CA539001164 | BMPR2 | c.76+157C>A (n.76+157C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377707C= | CA1321474813 | BMPR2 | c.76+157C= (n.76+157C=)
| |
2 | g.202377712C= | CA1321474814 | BMPR2 | c.76+162C= (n.76+162C=)
| |
2 | g.202377712C>T | CA763419196 | BMPR2 | c.76+162C>T (n.76+162C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377713A= | CA1321474815 | BMPR2 | c.76+163A= (n.76+163A=)
| |
2 | g.202377713A>G | CA763419197 | BMPR2 | c.76+163A>G (n.76+163A>G)
| dbSNP |
2 | g.202377717A= | CA1321474816 | BMPR2 | c.76+167A= (n.76+167A=)
| |
2 | g.202377717A>G | CA1321474817 | BMPR2 | c.76+167A>G (n.76+167A>G)
| dbSNP |
2 | g.202377718A= | CA1321474818 | BMPR2 | c.76+168A= (n.76+168A=)
| |
2 | g.202377718A>G | CA1321474819 | BMPR2 | c.76+168A>G (n.76+168A>G)
| dbSNP |
2 | g.202377722G>A | CA1321474820 | BMPR2 | c.76+172G>A (n.76+172G>A)
| dbSNP |
2 | g.202377722G= | CA1321474821 | BMPR2 | c.76+172G= (n.76+172G=)
| |
2 | g.202377724C= | CA1321474822 | BMPR2 | c.76+174C= (n.76+174C=)
| |
2 | g.202377724C>G | CA763419198 | BMPR2 | c.76+174C>G (n.76+174C>G)
| dbSNP |
2 | g.202377725T>G | CA763419199 | BMPR2 | c.76+175T>G (n.76+175T>G)
| dbSNP |
2 | g.202377725T= | CA1321474823 | BMPR2 | c.76+175T= (n.76+175T=)
| |
2 | g.202377727T>C | CA64522389 | BMPR2 | c.76+177T>C (n.76+177T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377727T= | CA1321474824 | BMPR2 | c.76+177T= (n.76+177T=)
| |
2 | g.202377728A= | CA1321474825 | BMPR2 | c.76+178A= (n.76+178A=)
| |
2 | g.202377728A>G | CA64522390 | BMPR2 | c.76+178A>G (n.76+178A>G)
| dbSNP |
2 | g.202377733T>C | CA64522391 | BMPR2 | c.76+183T>C (n.76+183T>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377733T= | CA1321474826 | BMPR2 | c.76+183T= (n.76+183T=)
| |
2 | g.202377735T>A | CA1321474828 | BMPR2 | c.76+185T>A (n.76+185T>A)
| dbSNP |
2 | g.202377735T= | CA1321474827 | BMPR2 | c.76+185T= (n.76+185T=)
| |
2 | g.202377737G>C | CA763419201 | BMPR2 | c.76+187G>C (n.76+187G>C)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377737G= | CA1321474829 | BMPR2 | c.76+187G= (n.76+187G=)
| |
2 | g.202377738T>C | CA1321474831 | BMPR2 | c.76+188T>C (n.76+188T>C)
| dbSNP |
2 | g.202377738T= | CA1321474830 | BMPR2 | c.76+188T= (n.76+188T=)
| |
2 | g.202377741A= | CA1321474832 | BMPR2 | c.76+191A= (n.76+191A=)
| |
2 | g.202377741A>G | CA64522392 | BMPR2 | c.76+191A>G (n.76+191A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377747C= | CA1321474833 | BMPR2 | c.76+197C= (n.76+197C=)
| |
2 | g.202377747C>G | CA64522393 | BMPR2 | c.76+197C>G (n.76+197C>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377747C>T | CA64522394 | BMPR2 | c.76+197C>T (n.76+197C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377749A= | CA1321474834 | BMPR2 | c.76+199A= (n.76+199A=)
| |
2 | g.202377749A>G | CA1041327629 | BMPR2 | c.76+199A>G (n.76+199A>G)
| dbSNP |
2 | g.202377750T>C | CA647622016 | BMPR2 | c.76+200T>C (n.76+200T>C)
| COSMIC |
2 | g.202377751C= | CA1321474835 | BMPR2 | c.76+201C= (n.76+201C=)
| |
2 | g.202377751C>T | CA763419207 | BMPR2 | c.76+201C>T (n.76+201C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377752C= | CA1321474836 | BMPR2 | c.76+202C= (n.76+202C=)
| |
2 | g.202377752C>T | CA1041327634 | BMPR2 | c.76+202C>T (n.76+202C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377753C= | CA1321474837 | BMPR2 | c.76+203C= (n.76+203C=)
| |
2 | g.202377753C>T | CA763419210 | BMPR2 | c.76+203C>T (n.76+203C>T)
| dbSNP |
2 | g.202377754C= | CA1321474838 | BMPR2 | c.76+204C= (n.76+204C=)
| |
2 | g.202377754C>T | CA763419212 | BMPR2 | c.76+204C>T (n.76+204C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377755A= | CA1321474839 | BMPR2 | c.76+205A= (n.76+205A=)
| |
2 | g.202377755A>C | CA1321474840 | BMPR2 | c.76+205A>C (n.76+205A>C)
| dbSNP |
2 | g.202377763A= | CA1321474841 | BMPR2 | c.76+213A= (n.76+213A=)
| |
2 | g.202377763A>G | CA763419216 | BMPR2 | c.76+213A>G (n.76+213A>G)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377764T>G | CA2753901605 | BMPR2 | c.76+214T>G (n.76+214T>G)
| |
2 | g.202377767C>A | CA539001166 | BMPR2 | c.76+217C>A (n.76+217C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202377767C= | CA1321474842 | BMPR2 | c.76+217C= (n.76+217C=)
| |
2 | g.202377767C>T | CA763419217 | BMPR2 | c.76+217C>T (n.76+217C>T)
| dbSNP |
2 | g.202377768C= | CA1321474843 | BMPR2 | c.76+218C= (n.76+218C=)
| |
2 | g.202377768C>T | CA763419220 | BMPR2 | c.76+218C>T (n.76+218C>T)
| dbSNP gnomAD v3 gnomAD v4 |
2 | g.202377771C= | CA1321474844 | BMPR2 | c.76+221C= (n.76+221C=)
| |
2 | g.202377771C>T | CA539001167 | BMPR2 | c.76+221C>T (n.76+221C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |