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.202519368_202523159del | CA915941649 | BMPR2 | c.852+316_967+2958del c.783+316_898+2958del | ClinVar |
2 | g.202520016del | CA2516412861 | BMPR2 | c.853-71del (n.853-71del) c.784-71del (n.784-71del) | |
2 | g.202520016C>A | CA2662705785 | BMPR2 | c.853-71C>A (n.853-71C>A) c.784-71C>A (n.784-71C>A) | gnomAD v4 |
2 | g.202520016C>T | CA2662705786 | BMPR2 | c.853-71C>T (n.853-71C>T) c.784-71C>T (n.784-71C>T) | gnomAD v4 |
2 | g.202520017T>A | CA2548161397 | BMPR2 | c.853-70T>A (n.853-70T>A) c.784-70T>A (n.784-70T>A) | |
2 | g.202520017T>C | CA763427081 | BMPR2 | c.853-70T>C (n.853-70T>C) c.784-70T>C (n.784-70T>C) | dbSNP gnomAD v4 |
2 | g.202520017T= | CA1321540168 | BMPR2 | c.853-70T= (n.853-70T=) c.784-70T= (n.784-70T=) | |
2 | g.202520018A>G | CA2662705787 | BMPR2 | c.853-69A>G (n.853-69A>G) c.784-69A>G (n.784-69A>G) | gnomAD v4 |
2 | g.202520018A>T | CA2662705788 | BMPR2 | c.853-69A>T (n.853-69A>T) c.784-69A>T (n.784-69A>T) | gnomAD v4 |
2 | g.202520019_202520020delinsAT | CA1321540169 | BMPR2 | c.853-68_853-67delinsAT (n.853-68_853-67delinsAT) c.784-68_784-67delinsAT (n.784-68_784-67delinsAT) | |
2 | g.202520020T>A | CA2513038169 | BMPR2 | c.853-67T>A (n.853-67T>A) c.784-67T>A (n.784-67T>A) | |
2 | g.202520020T>C | CA64016539 | BMPR2 | c.853-67T>C (n.853-67T>C) c.784-67T>C (n.784-67T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520020T= | CA1321540170 | BMPR2 | c.853-67T= (n.853-67T=) c.784-67T= (n.784-67T=) | |
2 | g.202520022del | CA763427088 | BMPR2 | c.853-65del (n.853-65del) c.784-65del (n.784-65del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520022T>A | CA2662705789 | BMPR2 | c.853-65T>A (n.853-65T>A) c.784-65T>A (n.784-65T>A) | gnomAD v4 |
2 | g.202520022T>C | CA2701464579 | BMPR2 | c.853-65T>C (n.853-65T>C) c.784-65T>C (n.784-65T>C) | dbSNP |
2 | g.202520023A>T | CA2662705790 | BMPR2 | c.853-64A>T (n.853-64A>T) c.784-64A>T (n.784-64A>T) | gnomAD v4 |
2 | g.202520024C>A | CA2577215607 | BMPR2 | c.853-63C>A (n.853-63C>A) c.784-63C>A (n.784-63C>A) | gnomAD v4 |
2 | g.202520024C>T | CA2662705791 | BMPR2 | c.853-63C>T (n.853-63C>T) c.784-63C>T (n.784-63C>T) | gnomAD v4 |
2 | g.202520024_202520027delinsCTCT | CA1321540171 | BMPR2 | c.853-63_853-60delinsCTCT (n.853-63_853-60delinsCTCT) c.784-63_784-60delinsCTCT (n.784-63_784-60delinsCTCT) | |
2 | g.202520027_202520029del | CA1321540172 | BMPR2 | c.853-60_853-58del (n.853-60_853-58del) c.784-60_784-58del (n.784-60_784-58del) | dbSNP gnomAD v4 |
2 | g.202520026C>A | CA2662705792 | BMPR2 | c.853-61C>A (n.853-61C>A) c.784-61C>A (n.784-61C>A) | gnomAD v4 |
2 | g.202520027T>C | CA1321540174 | BMPR2 | c.853-60T>C (n.853-60T>C) c.784-60T>C (n.784-60T>C) | dbSNP |
2 | g.202520027T>G | CA763427092 | BMPR2 | c.853-60T>G (n.853-60T>G) c.784-60T>G (n.784-60T>G) | dbSNP |
2 | g.202520027T= | CA1321540173 | BMPR2 | c.853-60T= (n.853-60T=) c.784-60T= (n.784-60T=) | |
2 | g.202520028_202520034del | CA2662705793 | BMPR2 | c.853-59_853-53del (n.853-59_853-53del) c.784-59_784-53del (n.784-59_784-53del) | gnomAD v4 |
2 | g.202520028T>C | CA1321540175 | BMPR2 | c.853-59T>C (n.853-59T>C) c.784-59T>C (n.784-59T>C) | dbSNP gnomAD v4 |
2 | g.202520028T= | CA1321540176 | BMPR2 | c.853-59T= (n.853-59T=) c.784-59T= (n.784-59T=) | |
2 | g.202520029C>A | CA2662705794 | BMPR2 | c.853-58C>A (n.853-58C>A) c.784-58C>A (n.784-58C>A) | gnomAD v4 |
2 | g.202520029C>T | CA2753905726 | BMPR2 | c.853-58C>T (n.853-58C>T) c.784-58C>T (n.784-58C>T) | |
2 | g.202520031T>C | CA2753905727 | BMPR2 | c.853-56T>C (n.853-56T>C) c.784-56T>C (n.784-56T>C) | |
2 | g.202520032G= | CA1321540177 | BMPR2 | c.853-55G= (n.853-55G=) c.784-55G= (n.784-55G=) | |
2 | g.202520032G>T | CA1041341880 | BMPR2 | c.853-55G>T (n.853-55G>T) c.784-55G>T (n.784-55G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520033T>G | CA2662705795 | BMPR2 | c.853-54T>G (n.853-54T>G) c.784-54T>G (n.784-54T>G) | gnomAD v4 |
2 | g.202520035A>T | CA2577215608 | BMPR2 | c.853-52A>T (n.853-52A>T) c.784-52A>T (n.784-52A>T) | gnomAD v4 |
2 | g.202520036A= | CA1321540178 | BMPR2 | c.853-51A= (n.853-51A=) c.784-51A= (n.784-51A=) | |
2 | g.202520036A>C | CA539387059 | BMPR2 | c.853-51A>C (n.853-51A>C) c.784-51A>C (n.784-51A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520038G>A | CA1321540180 | BMPR2 | c.853-49G>A (n.853-49G>A) c.784-49G>A (n.784-49G>A) | dbSNP gnomAD v4 |
2 | g.202520038G= | CA1321540179 | BMPR2 | c.853-49G= (n.853-49G=) c.784-49G= (n.784-49G=) | |
2 | g.202520038G>T | CA1041341881 | BMPR2 | c.853-49G>T (n.853-49G>T) c.784-49G>T (n.784-49G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520040G>T | CA2662705796 | BMPR2 | c.853-47G>T (n.853-47G>T) c.784-47G>T (n.784-47G>T) | gnomAD v4 |
2 | g.202520041A>G | CA2662705797 | BMPR2 | c.853-46A>G (n.853-46A>G) c.784-46A>G (n.784-46A>G) | gnomAD v4 |
2 | g.202520041A>T | CA2662705798 | BMPR2 | c.853-46A>T (n.853-46A>T) c.784-46A>T (n.784-46A>T) | gnomAD v4 |
2 | g.202520042G>T | CA2662705799 | BMPR2 | c.853-45G>T (n.853-45G>T) c.784-45G>T (n.784-45G>T) | gnomAD v4 |
2 | g.202520043T>C | CA2662705800 | BMPR2 | c.853-44T>C (n.853-44T>C) c.784-44T>C (n.784-44T>C) | gnomAD v4 |
2 | g.202520044T>C | CA647681727 | BMPR2 | c.853-43T>C (n.853-43T>C) c.784-43T>C (n.784-43T>C) | gnomAD v4 COSMIC |
2 | g.202520044T>G | CA2662705801 | BMPR2 | c.853-43T>G (n.853-43T>G) c.784-43T>G (n.784-43T>G) | gnomAD v4 |
2 | g.202520045A>C | CA2662705802 | BMPR2 | c.853-42A>C (n.853-42A>C) c.784-42A>C (n.784-42A>C) | gnomAD v4 |
2 | g.202520045A>T | CA2577215609 | BMPR2 | c.853-42A>T (n.853-42A>T) c.784-42A>T (n.784-42A>T) | gnomAD v4 |