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.202520000del | CA1321540163 | BMPR2 | c.853-87del (n.853-87del) c.784-87del (n.784-87del) | dbSNP |
2 | g.202519999A>C | CA2662705770 | BMPR2 | c.853-88A>C (n.853-88A>C) c.784-88A>C (n.784-88A>C) | gnomAD v4 |
2 | g.202520001T>G | CA2662705771 | BMPR2 | c.853-86T>G (n.853-86T>G) c.784-86T>G (n.784-86T>G) | gnomAD v4 |
2 | g.202520002T>G | CA1321540164 | BMPR2 | c.853-85T>G (n.853-85T>G) c.784-85T>G (n.784-85T>G) | dbSNP |
2 | g.202520002T= | CA1321540165 | BMPR2 | c.853-85T= (n.853-85T=) c.784-85T= (n.784-85T=) | |
2 | g.202520003C>A | CA2530698371 | BMPR2 | c.853-84C>A (n.853-84C>A) c.784-84C>A (n.784-84C>A) | gnomAD v4 |
2 | g.202520003C= | CA1321540166 | BMPR2 | c.853-84C= (n.853-84C=) c.784-84C= (n.784-84C=) | |
2 | g.202520003C>G | CA539387058 | BMPR2 | c.853-84C>G (n.853-84C>G) c.784-84C>G (n.784-84C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520003C>T | CA2662705772 | BMPR2 | c.853-84C>T (n.853-84C>T) c.784-84C>T (n.784-84C>T) | gnomAD v4 |
2 | g.202520006T>C | CA2662705773 | BMPR2 | c.853-81T>C (n.853-81T>C) c.784-81T>C (n.784-81T>C) | gnomAD v4 |
2 | g.202520007A>T | CA2662705774 | BMPR2 | c.853-80A>T (n.853-80A>T) c.784-80A>T (n.784-80A>T) | gnomAD v4 |
2 | g.202520008T>C | CA2662705775 | BMPR2 | c.853-79T>C (n.853-79T>C) c.784-79T>C (n.784-79T>C) | gnomAD v4 |
2 | g.202520009A>G | CA2753905724 | BMPR2 | c.853-78A>G (n.853-78A>G) c.784-78A>G (n.784-78A>G) | |
2 | g.202520009A>T | CA2662705777 | BMPR2 | c.853-78A>T (n.853-78A>T) c.784-78A>T (n.784-78A>T) | gnomAD v4 |
2 | g.202520010del | CA2662705776 | BMPR2 | c.853-77del (n.853-77del) c.784-77del (n.784-77del) | gnomAD v4 |
2 | g.202520011G>A | CA2577215606 | BMPR2 | c.853-76G>A (n.853-76G>A) c.784-76G>A (n.784-76G>A) | gnomAD v4 |
2 | g.202520011G>T | CA2662705778 | BMPR2 | c.853-76G>T (n.853-76G>T) c.784-76G>T (n.784-76G>T) | gnomAD v4 |
2 | g.202520012G>T | CA2662705779 | BMPR2 | c.853-75G>T (n.853-75G>T) c.784-75G>T (n.784-75G>T) | gnomAD v4 |
2 | g.202520013A>G | CA2662705780 | BMPR2 | c.853-74A>G (n.853-74A>G) c.784-74A>G (n.784-74A>G) | gnomAD v4 |
2 | g.202520013A>T | CA2662705781 | BMPR2 | c.853-74A>T (n.853-74A>T) c.784-74A>T (n.784-74A>T) | gnomAD v4 |
2 | g.202520014T>C | CA2662705782 | BMPR2 | c.853-73T>C (n.853-73T>C) c.784-73T>C (n.784-73T>C) | gnomAD v4 |
2 | g.202520015G>A | CA2662705783 | BMPR2 | c.853-72G>A (n.853-72G>A) c.784-72G>A (n.784-72G>A) | gnomAD v4 |
2 | g.202520015G>C | CA763427078 | BMPR2 | c.853-72G>C (n.853-72G>C) c.784-72G>C (n.784-72G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520015G= | CA1321540167 | BMPR2 | c.853-72G= (n.853-72G=) c.784-72G= (n.784-72G=) | |
2 | g.202520015G>T | CA2662705784 | BMPR2 | c.853-72G>T (n.853-72G>T) c.784-72G>T (n.784-72G>T) | gnomAD v4 |
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 |
2 | g.202520046A>G | CA2662705803 | BMPR2 | c.853-41A>G (n.853-41A>G) c.784-41A>G (n.784-41A>G) | gnomAD v4 |
2 | g.202520046A>T | CA1041341883 | BMPR2 | c.853-41A>T (n.853-41A>T) c.784-41A>T (n.784-41A>T) | gnomAD v3 gnomAD v4 |
2 | g.202520047T>A | CA2662705805 | BMPR2 | c.853-40T>A (n.853-40T>A) c.784-40T>A (n.784-40T>A) | gnomAD v4 |
2 | g.202520047T>G | CA2662705804 | BMPR2 | c.853-40T>G (n.853-40T>G) c.784-40T>G (n.784-40T>G) | gnomAD v4 |
2 | g.202520048T>A | CA539387060 | BMPR2 | c.853-39T>A (n.853-39T>A) c.784-39T>A (n.784-39T>A) | dbSNP gnomAD v2 |
2 | g.202520048T>G | CA2538758039 | BMPR2 | c.853-39T>G (n.853-39T>G) c.784-39T>G (n.784-39T>G) | |
2 | g.202520048T= | CA1321540181 | BMPR2 | c.853-39T= (n.853-39T=) c.784-39T= (n.784-39T=) | |
2 | g.202520049_202520050del | CA2662705806 | BMPR2 | c.853-38_853-37del (n.853-38_853-37del) c.784-38_784-37del (n.784-38_784-37del) | gnomAD v4 |
2 | g.202520049C>A | CA2662705807 | BMPR2 | c.853-38C>A (n.853-38C>A) c.784-38C>A (n.784-38C>A) | gnomAD v4 |
2 | g.202520049C>T | CA2662705808 | BMPR2 | c.853-38C>T (n.853-38C>T) c.784-38C>T (n.784-38C>T) | gnomAD v4 |
2 | g.202520050T>G | CA2662705809 | BMPR2 | c.853-37T>G (n.853-37T>G) c.784-37T>G (n.784-37T>G) | gnomAD v4 |
2 | g.202520051A= | CA1321540182 | BMPR2 | c.853-36A= (n.853-36A=) c.784-36A= (n.784-36A=) | |
2 | g.202520051A>C | CA539387061 | BMPR2 | c.853-36A>C (n.853-36A>C) c.784-36A>C (n.784-36A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520051A>T | CA539387062 | BMPR2 | c.853-36A>T (n.853-36A>T) c.784-36A>T (n.784-36A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520051dup | CA2662705811 | BMPR2 | c.853-36dup (n.853-36dup) c.784-36dup (n.784-36dup) | gnomAD v4 |
2 | g.202520052C>A | CA539387064 | BMPR2 | c.853-35C>A (n.853-35C>A) c.784-35C>A (n.784-35C>A) | gnomAD v2 gnomAD v4 |
2 | g.202520052C= | CA1321540183 | BMPR2 | c.853-35C= (n.853-35C=) c.784-35C= (n.784-35C=) | |
2 | g.202520053dup | CA539387063 | BMPR2 | c.853-34dup (n.853-34dup) c.784-34dup (n.784-34dup) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520052_202520053insA | CA2753905729 | BMPR2 | c.853-35_853-34insA (n.853-35_853-34insA) c.784-35_784-34insA (n.784-35_784-34insA) | |
2 | g.202520052_202520053insT | CA539387065 | BMPR2 | c.853-35_853-34insT (n.853-35_853-34insT) c.784-35_784-34insT (n.784-35_784-34insT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520052_202520053insTT | CA1041341892 | BMPR2 | c.853-35_853-34insTT (n.853-35_853-34insTT) c.784-35_784-34insTT (n.784-35_784-34insTT) | gnomAD v3 gnomAD v4 |
2 | g.202520053C= | CA1321540184 | BMPR2 | c.853-34C= (n.853-34C=) c.784-34C= (n.784-34C=) | |
2 | g.202520053C>T | CA763427115 | BMPR2 | c.853-34C>T (n.853-34C>T) c.784-34C>T (n.784-34C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520053_202520055delinsCTT | CA1321540185 | BMPR2 | c.853-34_853-32delinsCTT (n.853-34_853-32delinsCTT) c.784-34_784-32delinsCTT (n.784-34_784-32delinsCTT) | |
2 | g.202520053_202520054insG | CA1321540186 | BMPR2 | c.853-34_853-33insG (n.853-34_853-33insG) c.784-34_784-33insG (n.784-34_784-33insG) | dbSNP |
2 | g.202520053_202520054insAT | CA2662705820 | BMPR2 | c.853-34_853-33insAT (n.853-34_853-33insAT) c.784-34_784-33insAT (n.784-34_784-33insAT) | gnomAD v4 |
2 | g.202520053_202520054insCT | CA2607240802 | BMPR2 | c.853-34_853-33insCT (n.853-34_853-33insCT) c.784-34_784-33insCT (n.784-34_784-33insCT) | gnomAD v3 gnomAD v4 |
2 | g.202520053_202520054insGT | CA2577215612 | BMPR2 | c.853-34_853-33insGT (n.853-34_853-33insGT) c.784-34_784-33insGT (n.784-34_784-33insGT) | |
2 | g.202520053_202520054insCTTT | CA2662705814 | BMPR2 | c.853-34_853-33insCTTT (n.853-34_853-33insCTTT) c.784-34_784-33insCTTT (n.784-34_784-33insCTTT) | gnomAD v4 |
2 | g.202520054T>C | CA2577215610 | BMPR2 | c.853-33T>C (n.853-33T>C) c.784-33T>C (n.784-33T>C) | gnomAD v4 |
2 | g.202520065_202520066insTTTTTTTTTTTTTTTTTTTTTTTT | CA2662705817 | BMPR2 | c.853-22_853-21insTTTTTTTTTTTTTTTTTTTTTTTT (n.853-22_853-21insTTTTTTTTTTTTTTTTTTTTTTTT) c.784-22_784-21insTTTTTTTTTTTTTTTTTTTTTTTT (n.784-22_784-21insTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v4 |
2 | g.202520065dup | CA2061223 | BMPR2 | c.853-22dup (n.853-22dup) c.784-22dup (n.784-22dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520064_202520065dup | CA2061224 | BMPR2 | c.853-23_853-22dup (n.853-23_853-22dup) c.784-23_784-22dup (n.784-23_784-22dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520063_202520065dup | CA2061225 | BMPR2 | c.853-24_853-22dup (n.853-24_853-22dup) c.784-24_784-22dup (n.784-24_784-22dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520062_202520065dup | CA539387066 | BMPR2 | c.853-25_853-22dup (n.853-25_853-22dup) c.784-25_784-22dup (n.784-25_784-22dup) | gnomAD v2 gnomAD v4 |
2 | g.202520061_202520065dup | CA2662705819 | BMPR2 | c.853-26_853-22dup (n.853-26_853-22dup) c.784-26_784-22dup (n.784-26_784-22dup) | gnomAD v4 |
2 | g.202520060_202520065dup | CA2662705818 | BMPR2 | c.853-27_853-22dup (n.853-27_853-22dup) c.784-27_784-22dup (n.784-27_784-22dup) | gnomAD v4 |
2 | g.202520065del | CA2061226 | BMPR2 | c.853-22del (n.853-22del) c.784-22del (n.784-22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520064_202520065del | CA2061227 | BMPR2 | c.853-23_853-22del (n.853-23_853-22del) c.784-23_784-22del (n.784-23_784-22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520063_202520065del | CA2662705815 | BMPR2 | c.853-24_853-22del (n.853-24_853-22del) c.784-24_784-22del (n.784-24_784-22del) | gnomAD v4 |
2 | g.202520062_202520065del | CA2577215611 | BMPR2 | c.853-25_853-22del (n.853-25_853-22del) c.784-25_784-22del (n.784-25_784-22del) | |
2 | g.202520055T>C | CA2512772745 | BMPR2 | c.853-32T>C (n.853-32T>C) c.784-32T>C (n.784-32T>C) | |
2 | g.202520064_202520065insCTTTTTTTTTT | CA2753905639 | BMPR2 | c.853-23_853-22insCTTTTTTTTTT (n.853-23_853-22insCTTTTTTTTTT) c.784-23_784-22insCTTTTTTTTTT (n.784-23_784-22insCTTTTTTTTTT) | |
2 | g.202520056_202520057insA | CA2662705821 | BMPR2 | c.853-31_853-30insA (n.853-31_853-30insA) c.784-31_784-30insA (n.784-31_784-30insA) | gnomAD v4 |
2 | g.202520057T= | CA1321540187 | BMPR2 | c.853-30T= (n.853-30T=) c.784-30T= (n.784-30T=) | |
2 | g.202520057_202520058insC | CA1321540188 | BMPR2 | c.853-30_853-29insC (n.853-30_853-29insC) c.784-30_784-29insC (n.784-30_784-29insC) | dbSNP |
2 | g.202520061T>C | CA2526962541 | BMPR2 | c.853-26T>C (n.853-26T>C) c.784-26T>C (n.784-26T>C) | |
2 | g.202520061_202520062insC | CA2753905640 | BMPR2 | c.853-26_853-25insC (n.853-26_853-25insC) c.784-26_784-25insC (n.784-26_784-25insC) | |
2 | g.202520063T= | CA1321540189 | BMPR2 | c.853-24T= (n.853-24T=) c.784-24T= (n.784-24T=) | |
2 | g.202520066_202520072del | CA2662705822 | BMPR2 | c.853-21_853-15del (n.853-21_853-15del) c.784-21_784-15del (n.784-21_784-15del) | gnomAD v4 |
2 | g.202520063_202520064insC | CA2061228 | BMPR2 | c.853-24_853-23insC (n.853-24_853-23insC) c.784-24_784-23insC (n.784-24_784-23insC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520063_202520064insG | CA2662705823 | BMPR2 | c.853-24_853-23insG (n.853-24_853-23insG) c.784-24_784-23insG (n.784-24_784-23insG) | gnomAD v4 |
2 | g.202520064T>C | CA2503875345 | BMPR2 | c.853-23T>C (n.853-23T>C) c.784-23T>C (n.784-23T>C) | |
2 | g.202520064T= | CA1321540190 | BMPR2 | c.853-23T= (n.853-23T=) c.784-23T= (n.784-23T=) | |
2 | g.202520064_202520065insCT | CA2662705824 | BMPR2 | c.853-23_853-22insCT (n.853-23_853-22insCT) c.784-23_784-22insCT (n.784-23_784-22insCT) | gnomAD v4 |
2 | g.202520064_202520065insC | CA539387067 | BMPR2 | c.853-23_853-22insC (n.853-23_853-22insC) c.784-23_784-22insC (n.784-23_784-22insC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520064_202520065insG | CA1041341904 | BMPR2 | c.853-23_853-22insG (n.853-23_853-22insG) c.784-23_784-22insG (n.784-23_784-22insG) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520065T>C | CA2061231 | BMPR2 | c.853-22T>C (n.853-22T>C) c.784-22T>C (n.784-22T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520065T>G | CA2565681173 | BMPR2 | c.853-22T>G (n.853-22T>G) c.784-22T>G (n.784-22T>G) | |
2 | g.202520065T= | CA1321540193 | BMPR2 | c.853-22T= (n.853-22T=) c.784-22T= (n.784-22T=) | |
2 | g.202520065_202520067delinsTCG | CA1321540192 | BMPR2 | c.853-22_853-20delinsTCG (n.853-22_853-20delinsTCG) c.784-22_784-20delinsTCG (n.784-22_784-20delinsTCG) | |
2 | g.202520065_202520068delinsTCGC | CA1321540191 | BMPR2 | c.853-22_853-19delinsTCGC (n.853-22_853-19delinsTCGC) c.784-22_784-19delinsTCGC (n.784-22_784-19delinsTCGC) | |
2 | g.202520065_202520069delinsTCGCA | CA1321540194 | BMPR2 | c.853-22_853-18delinsTCGCA (n.853-22_853-18delinsTCGCA) c.784-22_784-18delinsTCGCA (n.784-22_784-18delinsTCGCA) | |
2 | g.202520065_202520066insTC | CA2061230 | BMPR2 | c.853-22_853-21insTC (n.853-22_853-21insTC) c.784-22_784-21insTC (n.784-22_784-21insTC) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520065_202520066insTTC | CA2577215614 | BMPR2 | c.853-22_853-21insTTC (n.853-22_853-21insTTC) c.784-22_784-21insTTC (n.784-22_784-21insTTC) | gnomAD v4 |
2 | g.202520065_202520066insTTAG | CA2662705828 | BMPR2 | c.853-22_853-21insTTAG (n.853-22_853-21insTTAG) c.784-22_784-21insTTAG (n.784-22_784-21insTTAG) | gnomAD v4 |
2 | g.202520065_202520066insTTTC | CA2577215615 | BMPR2 | c.853-22_853-21insTTTC (n.853-22_853-21insTTTC) c.784-22_784-21insTTTC (n.784-22_784-21insTTTC) | |
2 | g.202520065_202520066insTTTTC | CA1041341923 | BMPR2 | c.853-22_853-21insTTTTC (n.853-22_853-21insTTTTC) c.784-22_784-21insTTTTC (n.784-22_784-21insTTTTC) | gnomAD v3 gnomAD v4 |
2 | g.202520066del | CA2577215613 | BMPR2 | c.853-21del (n.853-21del) c.784-21del (n.784-21del) | gnomAD v4 |
2 | g.202520066C>A | CA2543606314 | BMPR2 | c.853-21C>A (n.853-21C>A) c.784-21C>A (n.784-21C>A) | gnomAD v4 |
2 | g.202520066C= | CA1321540195 | BMPR2 | c.853-21C= (n.853-21C=) c.784-21C= (n.784-21C=) | |
2 | g.202520066C>G | CA2662705827 | BMPR2 | c.853-21C>G (n.853-21C>G) c.784-21C>G (n.784-21C>G) | gnomAD v4 |
2 | g.202520066C>T | CA2061233 | BMPR2 | c.853-21C>T (n.853-21C>T) c.784-21C>T (n.784-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520066dup | CA2061229 | BMPR2 | c.853-21dup (n.853-21dup) c.784-21dup (n.784-21dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520066_202520068del | CA539387068 | BMPR2 | c.853-21_853-19del (n.853-21_853-19del) c.784-21_784-19del (n.784-21_784-19del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520067_202520068del | CA539387069 | BMPR2 | c.853-20_853-19del (n.853-20_853-19del) c.784-20_784-19del (n.784-20_784-19del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520066_202520069del | CA2061232 | BMPR2 | c.853-21_853-18del (n.853-21_853-18del) c.784-21_784-18del (n.784-21_784-18del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520066_202520067insT | CA539387071 | BMPR2 | c.853-21_853-20insT (n.853-21_853-20insT) c.784-21_784-20insT (n.784-21_784-20insT) | gnomAD v2 gnomAD v4 |
2 | g.202520067del | CA1041341932 | BMPR2 | c.853-20del (n.853-20del) c.784-20del (n.784-20del) | gnomAD v3 gnomAD v4 |
2 | g.202520067G>A | CA2061235 | BMPR2 | c.853-20G>A (n.853-20G>A) c.784-20G>A (n.784-20G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520067G>C | CA539387070 | BMPR2 | c.853-20G>C (n.853-20G>C) c.784-20G>C (n.784-20G>C) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520067G= | CA1321540196 | BMPR2 | c.853-20G= (n.853-20G=) c.784-20G= (n.784-20G=) | |
2 | g.202520067G>T | CA2061234 | BMPR2 | c.853-20G>T (n.853-20G>T) c.784-20G>T (n.784-20G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520067_202520069del | CA1041341933 | BMPR2 | c.853-20_853-18del (n.853-20_853-18del) c.784-20_784-18del (n.784-20_784-18del) | gnomAD v3 gnomAD v4 |
2 | g.202520067_202520068insTTT | CA539387072 | BMPR2 | c.853-20_853-19insTTT (n.853-20_853-19insTTT) c.784-20_784-19insTTT (n.784-20_784-19insTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520067_202520068insTTTT | CA539387074 | BMPR2 | c.853-20_853-19insTTTT (n.853-20_853-19insTTTT) c.784-20_784-19insTTTT (n.784-20_784-19insTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520068C>A | CA2662705829 | BMPR2 | c.853-19C>A (n.853-19C>A) c.784-19C>A (n.784-19C>A) | gnomAD v4 |
2 | g.202520068C= | CA1321540197 | BMPR2 | c.853-19C= (n.853-19C=) c.784-19C= (n.784-19C=) | |
2 | g.202520068C>G | CA2662705830 | BMPR2 | c.853-19C>G (n.853-19C>G) c.784-19C>G (n.784-19C>G) | gnomAD v4 |
2 | g.202520068C>T | CA539387073 | BMPR2 | c.853-19C>T (n.853-19C>T) c.784-19C>T (n.784-19C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520068_202520069insTTT | CA2662705831 | BMPR2 | c.853-19_853-18insTTT (n.853-19_853-18insTTT) c.784-19_784-18insTTT (n.784-19_784-18insTTT) | gnomAD v4 |
2 | g.202520068_202520069insTTTT | CA1041341937 | BMPR2 | c.853-19_853-18insTTTT (n.853-19_853-18insTTTT) c.784-19_784-18insTTTT (n.784-19_784-18insTTTT) | gnomAD v3 gnomAD v4 |
2 | g.202520068_202520069insTTTTT | CA1041341939 | BMPR2 | c.853-19_853-18insTTTTT (n.853-19_853-18insTTTTT) c.784-19_784-18insTTTTT (n.784-19_784-18insTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.202520069A= | CA1321540198 | BMPR2 | c.853-18A= (n.853-18A=) c.784-18A= (n.784-18A=) | |
2 | g.202520069A>C | CA1041341941 | BMPR2 | c.853-18A>C (n.853-18A>C) c.784-18A>C (n.784-18A>C) | gnomAD v3 gnomAD v4 |
2 | g.202520069A>G | CA2753905645 | BMPR2 | c.853-18A>G (n.853-18A>G) c.784-18A>G (n.784-18A>G) | |
2 | g.202520069A>T | CA539387075 | BMPR2 | c.853-18A>T (n.853-18A>T) c.784-18A>T (n.784-18A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520069_202520070del | CA2662705832 | BMPR2 | c.853-18_853-17del (n.853-18_853-17del) c.784-18_784-17del (n.784-18_784-17del) | gnomAD v4 |
2 | g.202520070T>A | CA2662705833 | BMPR2 | c.853-17T>A (n.853-17T>A) c.784-17T>A (n.784-17T>A) | gnomAD v4 |
2 | g.202520070T>C | CA1321540199 | BMPR2 | c.853-17T>C (n.853-17T>C) c.784-17T>C (n.784-17T>C) | dbSNP gnomAD v4 |
2 | g.202520070T= | CA1321540200 | BMPR2 | c.853-17T= (n.853-17T=) c.784-17T= (n.784-17T=) | |
2 | g.202520075_202520076insTCTTTTTTT | CA2753905646 | BMPR2 | c.853-12_853-11insTCTTTTTTT (n.853-12_853-11insTCTTTTTTT) c.784-12_784-11insTCTTTTTTT (n.784-12_784-11insTCTTTTTTT) | |
2 | g.202520075dup | CA763427237 | BMPR2 | c.853-12dup (n.853-12dup) c.784-12dup (n.784-12dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520074_202520075dup | CA1041341945 | BMPR2 | c.853-13_853-12dup (n.853-13_853-12dup) c.784-13_784-12dup (n.784-13_784-12dup) | gnomAD v3 gnomAD v4 |
2 | g.202520073_202520075dup | CA539387076 | BMPR2 | c.853-14_853-12dup (n.853-14_853-12dup) c.784-14_784-12dup (n.784-14_784-12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520072_202520075dup | CA539387079 | BMPR2 | c.853-15_853-12dup (n.853-15_853-12dup) c.784-15_784-12dup (n.784-15_784-12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520071_202520075dup | CA539387078 | BMPR2 | c.853-16_853-12dup (n.853-16_853-12dup) c.784-16_784-12dup (n.784-16_784-12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520070_202520075dup | CA539387077 | BMPR2 | c.853-17_853-12dup (n.853-17_853-12dup) c.784-17_784-12dup (n.784-17_784-12dup) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520075del | CA2566466699 | BMPR2 | c.853-12del (n.853-12del) c.784-12del (n.784-12del) | gnomAD v4 |
2 | g.202520070_202520071insGATTATAATGGC | CA2535454895 | BMPR2 | c.853-17_853-16insGATTATAATGGC (n.853-17_853-16insGATTATAATGGC) c.784-17_784-16insGATTATAATGGC (n.784-17_784-16insGATTATAATGGC) | |
2 | g.202520071T>A | CA1041341949 | BMPR2 | c.853-16T>A (n.853-16T>A) c.784-16T>A (n.784-16T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520071T= | CA1321540201 | BMPR2 | c.853-16T= (n.853-16T=) c.784-16T= (n.784-16T=) | |
2 | g.202520072T>A | CA2662705834 | BMPR2 | c.853-15T>A (n.853-15T>A) c.784-15T>A (n.784-15T>A) | gnomAD v4 |
2 | g.202520072T>C | CA2662705835 | BMPR2 | c.853-15T>C (n.853-15T>C) c.784-15T>C (n.784-15T>C) | gnomAD v4 |
2 | g.202520073T>C | CA2517561158 | BMPR2 | c.853-14T>C (n.853-14T>C) c.784-14T>C (n.784-14T>C) | gnomAD v4 |
2 | g.202520074T>C | CA2662705836 | BMPR2 | c.853-13T>C (n.853-13T>C) c.784-13T>C (n.784-13T>C) | gnomAD v4 |
2 | g.202520075T>C | CA1321540204 | BMPR2 | c.853-12T>C (n.853-12T>C) c.784-12T>C (n.784-12T>C) | dbSNP gnomAD v4 |
2 | g.202520075T= | CA1321540203 | BMPR2 | c.853-12T= (n.853-12T=) c.784-12T= (n.784-12T=) | |
2 | g.202520075_202520077delinsTCC | CA1321540202 | BMPR2 | c.853-12_853-10delinsTCC (n.853-12_853-10delinsTCC) c.784-12_784-10delinsTCC (n.784-12_784-10delinsTCC) | |
2 | g.202520076C>A | CA2662705838 | BMPR2 | c.853-11C>A (n.853-11C>A) c.784-11C>A (n.784-11C>A) | gnomAD v4 |
2 | g.202520076C= | CA1321540205 | BMPR2 | c.853-11C= (n.853-11C=) c.784-11C= (n.784-11C=) | |
2 | g.202520076C>G | CA2662705839 | BMPR2 | c.853-11C>G (n.853-11C>G) c.784-11C>G (n.784-11C>G) | gnomAD v4 |
2 | g.202520076C>T | CA2061236 | BMPR2 | c.853-11C>T (n.853-11C>T) c.784-11C>T (n.784-11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520076_202520077del | CA539387080 | BMPR2 | c.853-11_853-10del (n.853-11_853-10del) c.784-11_784-10del (n.784-11_784-10del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520077C>A | CA2662705843 | BMPR2 | c.853-10C>A (n.853-10C>A) c.784-10C>A (n.784-10C>A) | gnomAD v4 |
2 | g.202520077C= | CA1321540206 | BMPR2 | c.853-10C= (n.853-10C=) c.784-10C= (n.784-10C=) | |
2 | g.202520077C>G | CA2662705845 | BMPR2 | c.853-10C>G (n.853-10C>G) c.784-10C>G (n.784-10C>G) | gnomAD v4 |
2 | g.202520077C>T | CA2061237 | BMPR2 | c.853-10C>T (n.853-10C>T) c.784-10C>T (n.784-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520078T>A | CA2662705853 | BMPR2 | c.853-9T>A (n.853-9T>A) c.784-9T>A (n.784-9T>A) | gnomAD v4 |
2 | g.202520078T>C | CA2662705851 | BMPR2 | c.853-9T>C (n.853-9T>C) c.784-9T>C (n.784-9T>C) | gnomAD v4 |
2 | g.202520078T>G | CA2662705850 | BMPR2 | c.853-9T>G (n.853-9T>G) c.784-9T>G (n.784-9T>G) | gnomAD v4 |
2 | g.202520078_202520079insTTTT | CA539387081 | BMPR2 | c.853-9_853-8insTTTT (n.853-9_853-8insTTTT) c.784-9_784-8insTTTT (n.784-9_784-8insTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520078_202520079insTTTTT | CA539387082 | BMPR2 | c.853-9_853-8insTTTTT (n.853-9_853-8insTTTTT) c.784-9_784-8insTTTTT (n.784-9_784-8insTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520078_202520079insTTTTTT | CA539387083 | BMPR2 | c.853-9_853-8insTTTTTT (n.853-9_853-8insTTTTTT) c.784-9_784-8insTTTTTT (n.784-9_784-8insTTTTTT) | gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520078_202520079insTTTTTTT | CA539387084 | BMPR2 | c.853-9_853-8insTTTTTTT (n.853-9_853-8insTTTTTTT) c.784-9_784-8insTTTTTTT (n.784-9_784-8insTTTTTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520078_202520079insTTTTTTTT | CA1041341964 | BMPR2 | c.853-9_853-8insTTTTTTTT (n.853-9_853-8insTTTTTTTT) c.784-9_784-8insTTTTTTTT (n.784-9_784-8insTTTTTTTT) | gnomAD v3 gnomAD v4 |
2 | g.202520079C>A | CA2662705857 | BMPR2 | c.853-8C>A (n.853-8C>A) c.784-8C>A (n.784-8C>A) | gnomAD v4 |
2 | g.202520079C= | CA1321540207 | BMPR2 | c.853-8C= (n.853-8C=) c.784-8C= (n.784-8C=) | |
2 | g.202520079C>G | CA2662705858 | BMPR2 | c.853-8C>G (n.853-8C>G) c.784-8C>G (n.784-8C>G) | gnomAD v4 |
2 | g.202520079C>T | CA2061238 | BMPR2 | c.853-8C>T (n.853-8C>T) c.784-8C>T (n.784-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520080T>C | CA2662705862 | BMPR2 | c.853-7T>C (n.853-7T>C) c.784-7T>C (n.784-7T>C) | gnomAD v4 |
2 | g.202520080_202520081delinsTA | CA1321540208 | BMPR2 | c.853-7_853-6delinsTA (n.853-7_853-6delinsTA) c.784-7_784-6delinsTA (n.784-7_784-6delinsTA) | |
2 | g.202520081del | CA763427278 | BMPR2 | c.853-6del (n.853-6del) c.784-6del (n.784-6del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520081A= | CA1321540209 | BMPR2 | c.853-6A= (n.853-6A=) c.784-6A= (n.784-6A=) | |
2 | g.202520081A>C | CA2662705867 | BMPR2 | c.853-6A>C (n.853-6A>C) c.784-6A>C (n.784-6A>C) | gnomAD v4 |
2 | g.202520081A>G | CA2061240 | BMPR2 | c.853-6A>G (n.853-6A>G) c.784-6A>G (n.784-6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520081A>T | CA2061239 | BMPR2 | c.853-6A>T (n.853-6A>T) c.784-6A>T (n.784-6A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520082T>C | CA763427285 | BMPR2 | c.853-5T>C (n.853-5T>C) c.784-5T>C (n.784-5T>C) | dbSNP |
2 | g.202520082T= | CA1321540210 | BMPR2 | c.853-5T= (n.853-5T=) c.784-5T= (n.784-5T=) | |
2 | g.202520083A= | CA1321540211 | BMPR2 | c.853-4A= (n.853-4A=) c.784-4A= (n.784-4A=) | |
2 | g.202520083A>G | CA539387085 | BMPR2 | c.853-4A>G (n.853-4A>G) c.784-4A>G (n.784-4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520083A>T | CA539387086 | BMPR2 | c.853-4A>T (n.853-4A>T) c.784-4A>T (n.784-4A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520083_202520089del | CA1041341976 | BMPR2 | c.853-4_855del c.784-4_786del | gnomAD v3 gnomAD v4 |
2 | g.202520084T>A | CA2662705884 | BMPR2 | c.853-3T>A (n.853-3T>A) c.784-3T>A (n.784-3T>A) | gnomAD v4 |
2 | g.202520085A= | CA1321540212 | BMPR2 | c.853-2A= (n.853-2A=) c.784-2A= (n.784-2A=) | |
2 | g.202520085A>C | CA350340669 | BMPR2 | c.853-2A>C (n.853-2A>C) c.784-2A>C (n.784-2A>C) | |
2 | g.202520085A>G | CA324144 | BMPR2 | c.853-2A>G (n.853-2A>G) c.784-2A>G (n.784-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520085A>T | CA350340670 | BMPR2 | c.853-2A>T (n.853-2A>T) c.784-2A>T (n.784-2A>T) | gnomAD v3 gnomAD v4 |
2 | g.202520085_202520086del | CA1041341987 | BMPR2 | c.853-2_853-1del (n.853-2_853-1del) c.784-2_784-1del (n.784-2_784-1del) | |
2 | g.202520085_202520089del | CA1041341991 | BMPR2 | c.853-2_855del c.784-2_786del | gnomAD v3 gnomAD v4 |
2 | g.202520086G>A | CA350340671 | BMPR2 | c.853-1G>A (n.853-1G>A) c.784-1G>A (n.784-1G>A) | ClinVar dbSNP |
2 | g.202520086G>C | CA350340672 | BMPR2 | c.853-1G>C (n.853-1G>C) c.784-1G>C (n.784-1G>C) | ClinVar dbSNP |
2 | g.202520086G= | CA1321540213 | BMPR2 | c.853-1G= (n.853-1G=) c.784-1G= (n.784-1G=) | |
2 | g.202520086G>T | CA350340673 | BMPR2 | c.853-1G>T (n.853-1G>T) c.784-1G>T (n.784-1G>T) | gnomAD v3 gnomAD v4 |
2 | g.202520086_202520087insTTTTTTTTT | CA1041342001 | BMPR2 | c.853-1_853insTTTTTTTTT (n.853-1_853insTTTTTTTTT) c.784-1_784insTTTTTTTTT (n.784-1_784insTTTTTTTTT) | |
2 | g.202520087G>A | CA350340674 | BMPR2 | c.853G>A (p.Gly285Arg) c.784G>A (p.Gly262Arg) | gnomAD v4 |
2 | g.202520087G>C | CA350340675 | BMPR2 | c.853G>C (p.Gly285Arg) c.784G>C (p.Gly262Arg) | |
2 | g.202520087G>T | CA350340676 | BMPR2 | c.853G>T (p.Gly285Ter) c.784G>T (p.Gly262Ter) | gnomAD v3 gnomAD v4 |
2 | g.202520088G>A | CA350340677 | BMPR2 | c.854G>A (p.Gly285Glu) c.785G>A (p.Gly262Glu) | |
2 | g.202520088G>C | CA350340678 | BMPR2 | c.854G>C (p.Gly285Ala) c.785G>C (p.Gly262Ala) | |
2 | g.202520088G>T | CA350340679 | BMPR2 | c.854G>T (p.Gly285Val) c.785G>T (p.Gly262Val) | gnomAD v3 gnomAD v4 |
2 | g.202520088_202520089delinsGA | CA1321540214 | BMPR2 | c.854_855delinsGA (p.Gly285=) c.785_786delinsGA (p.Gly262=) | |
2 | g.202520089del | CA645293965 | BMPR2 | c.855del (p.Ser286LeufsTer6) c.786del (p.Ser263LeufsTer6) | ClinVar dbSNP |
2 | g.202520089A= | CA1321540215 | BMPR2 | c.855A= (p.Gly285=) c.786A= (p.Gly262=) | |
2 | g.202520089A>C | CA430840362 | BMPR2 | c.855A>C (p.Gly285=) c.786A>C (p.Gly262=) | |
2 | g.202520089A>G | CA2061241 | BMPR2 | c.855A>G (p.Gly285=) c.786A>G (p.Gly262=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520089A>T | CA430840361 | BMPR2 | c.855A>T (p.Gly285=) c.786A>T (p.Gly262=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.202520090T>A | CA350340682 | BMPR2 | c.856T>A (p.Ser286Thr) c.787T>A (p.Ser263Thr) | |
2 | g.202520090T>C | CA350340681 | BMPR2 | c.856T>C (p.Ser286Pro) c.787T>C (p.Ser263Pro) | |
2 | g.202520090T>G | CA350340680 | BMPR2 | c.856T>G (p.Ser286Ala) c.787T>G (p.Ser263Ala) | |
2 | g.202520091C>A | CA350340685 | BMPR2 | c.857C>A (p.Ser286Tyr) c.788C>A (p.Ser263Tyr) | gnomAD v4 |
2 | g.202520091C>G | CA350340683 | BMPR2 | c.857C>G (p.Ser286Cys) c.788C>G (p.Ser263Cys) | |
2 | g.202520091C>T | CA350340684 | BMPR2 | c.857C>T (p.Ser286Phe) c.788C>T (p.Ser263Phe) | gnomAD v3 gnomAD v4 |
2 | g.202520092T>A | CA430840363 | BMPR2 | c.858T>A (p.Ser286=) c.789T>A (p.Ser263=) | |
2 | g.202520092T>C | CA430840364 | BMPR2 | c.858T>C (p.Ser286=) c.789T>C (p.Ser263=) | ClinVar dbSNP |
2 | g.202520092T>G | CA430840365 | BMPR2 | c.858T>G (p.Ser286=) c.789T>G (p.Ser263=) | |
2 | g.202520092T= | CA1321540216 | BMPR2 | c.858T= (p.Ser286=) c.789T= (p.Ser263=) | |
2 | g.202520093T>A | CA350340686 | BMPR2 | c.859T>A (p.Leu287Ile) c.790T>A (p.Leu264Ile) | |
2 | g.202520093T>C | CA430840366 | BMPR2 | c.859T>C (p.Leu287=) c.790T>C (p.Leu264=) | |
2 | g.202520093T>G | CA350340687 | BMPR2 | c.859T>G (p.Leu287Val) c.790T>G (p.Leu264Val) | |
2 | g.202520094T>A | CA350340688 | BMPR2 | c.860T>A (p.Leu287Ter) c.791T>A (p.Leu264Ter) | ClinVar dbSNP |
2 | g.202520094T>C | CA64016707 | BMPR2 | c.860T>C (p.Leu287Ser) c.791T>C (p.Leu264Ser) | dbSNP |
2 | g.202520094T>G | CA350340689 | BMPR2 | c.860T>G (p.Leu287Ter) c.791T>G (p.Leu264Ter) | ClinVar |
2 | g.202520094T= | CA1321540217 | BMPR2 | c.860T= (p.Leu287=) c.791T= (p.Leu264=) | |
2 | g.202520095A>C | CA350340690 | BMPR2 | c.861A>C (p.Leu287Phe) c.792A>C (p.Leu264Phe) | |
2 | g.202520095A>G | CA430840369 | BMPR2 | c.861A>G (p.Leu287=) c.792A>G (p.Leu264=) | |
2 | g.202520095A>T | CA350340691 | BMPR2 | c.861A>T (p.Leu287Phe) c.792A>T (p.Leu264Phe) | gnomAD v3 gnomAD v4 |
2 | g.202520096T>A | CA350340692 | BMPR2 | c.862T>A (p.Cys288Ser) c.793T>A (p.Cys265Ser) | |
2 | g.202520096T>C | CA350340693 | BMPR2 | c.862T>C (p.Cys288Arg) c.793T>C (p.Cys265Arg) | gnomAD v4 |
2 | g.202520096T>G | CA2061242 | BMPR2 | c.862T>G (p.Cys288Gly) c.793T>G (p.Cys265Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520096T= | CA1321540218 | BMPR2 | c.862T= (p.Cys288=) c.793T= (p.Cys265=) | |
2 | g.202520096dup | CA2580065456 | BMPR2 | c.862dup (p.Cys288LeufsTer10) c.793dup (p.Cys265LeufsTer10) | ClinVar |
2 | g.202520097G>A | CA350340696 | BMPR2 | c.863G>A (p.Cys288Tyr) c.794G>A (p.Cys265Tyr) | |
2 | g.202520097G>C | CA350340695 | BMPR2 | c.863G>C (p.Cys288Ser) c.794G>C (p.Cys265Ser) | |
2 | g.202520097G>T | CA350340694 | BMPR2 | c.863G>T (p.Cys288Phe) c.794G>T (p.Cys265Phe) | gnomAD v3 gnomAD v4 |
2 | g.202520098C>A | CA350340697 | BMPR2 | c.864C>A (p.Cys288Ter) c.795C>A (p.Cys265Ter) | |
2 | g.202520098C>G | CA350340698 | BMPR2 | c.864C>G (p.Cys288Trp) c.795C>G (p.Cys265Trp) | |
2 | g.202520098C>T | CA430840373 | BMPR2 | c.864C>T (p.Cys288=) c.795C>T (p.Cys265=) | gnomAD v4 |
2 | g.202520099A>C | CA350340699 | BMPR2 | c.865A>C (p.Lys289Gln) c.796A>C (p.Lys266Gln) | |
2 | g.202520099A>G | CA350340700 | BMPR2 | c.865A>G (p.Lys289Glu) c.796A>G (p.Lys266Glu) | |
2 | g.202520099A>T | CA350340701 | BMPR2 | c.865A>T (p.Lys289Ter) c.796A>T (p.Lys266Ter) | |
2 | g.202520099_202520110del | CA2586965543 | BMPR2 | c.865_876del (p.Lys289_Ser292del) c.796_807del (p.Lys266_Ser269del) |