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.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.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.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) | |
2 | g.202520100A>C | CA350340702 | BMPR2 | c.866A>C (p.Lys289Thr) c.797A>C (p.Lys266Thr) | |
2 | g.202520100A>G | CA350340703 | BMPR2 | c.866A>G (p.Lys289Arg) c.797A>G (p.Lys266Arg) | |
2 | g.202520100A>T | CA350340704 | BMPR2 | c.866A>T (p.Lys289Met) c.797A>T (p.Lys266Met) | |
2 | g.202520101G>A | CA430840378 | BMPR2 | c.867G>A (p.Lys289=) c.798G>A (p.Lys266=) | gnomAD v4 |
2 | g.202520101G>C | CA350340705 | BMPR2 | c.867G>C (p.Lys289Asn) c.798G>C (p.Lys266Asn) | |
2 | g.202520101G>T | CA350340706 | BMPR2 | c.867G>T (p.Lys289Asn) c.798G>T (p.Lys266Asn) | gnomAD v3 gnomAD v4 |
2 | g.202520102T>A | CA350340707 | BMPR2 | c.868T>A (p.Tyr290Asn) c.799T>A (p.Tyr267Asn) | |
2 | g.202520102T>C | CA350340708 | BMPR2 | c.868T>C (p.Tyr290His) c.799T>C (p.Tyr267His) | |
2 | g.202520102T>G | CA350340709 | BMPR2 | c.868T>G (p.Tyr290Asp) c.799T>G (p.Tyr267Asp) | |
2 | g.202520103A>C | CA350340711 | BMPR2 | c.869A>C (p.Tyr290Ser) c.800A>C (p.Tyr267Ser) | |
2 | g.202520103A>G | CA350340712 | BMPR2 | c.869A>G (p.Tyr290Cys) c.800A>G (p.Tyr267Cys) | |
2 | g.202520103A>T | CA350340710 | BMPR2 | c.869A>T (p.Tyr290Phe) c.800A>T (p.Tyr267Phe) | gnomAD v3 gnomAD v4 |
2 | g.202520103_202520104delinsAT | CA1321540219 | BMPR2 | c.869_870delinsAT (p.Tyr290=) c.800_801delinsAT (p.Tyr267=) | |
2 | g.202520104T>A | CA350340713 | BMPR2 | c.870T>A (p.Tyr290Ter) c.801T>A (p.Tyr267Ter) | |
2 | g.202520104T>C | CA430840385 | BMPR2 | c.870T>C (p.Tyr290=) c.801T>C (p.Tyr267=) | |
2 | g.202520104T>G | CA350340714 | BMPR2 | c.870T>G (p.Tyr290Ter) c.801T>G (p.Tyr267Ter) | |
2 | g.202520106dup | CA2586965544 | BMPR2 | c.872dup (p.Leu291PhefsTer7) c.803dup (p.Leu268PhefsTer7) | |
2 | g.202520105_202520106dup | CA2739279435 | BMPR2 | c.871_872dup (p.Leu291PhefsTer2) c.802_803dup (p.Leu268PhefsTer2) | ClinVar |
2 | g.202520106del | CA645293966 | BMPR2 | c.872del (p.Leu291Ter) c.803del (p.Leu268Ter) | ClinVar dbSNP |
2 | g.202520105T>A | CA350340715 | BMPR2 | c.871T>A (p.Leu291Ile) c.802T>A (p.Leu268Ile) | |
2 | g.202520105T>C | CA430840386 | BMPR2 | c.871T>C (p.Leu291=) c.802T>C (p.Leu268=) | |
2 | g.202520105T>G | CA350340716 | BMPR2 | c.871T>G (p.Leu291Val) c.802T>G (p.Leu268Val) | |
2 | g.202520106T>A | CA350340717 | BMPR2 | c.872T>A (p.Leu291Ter) c.803T>A (p.Leu268Ter) | |
2 | g.202520106T>C | CA350340718 | BMPR2 | c.872T>C (p.Leu291Ser) c.803T>C (p.Leu268Ser) | |
2 | g.202520106T>G | CA350340719 | BMPR2 | c.872T>G (p.Leu291Ter) c.803T>G (p.Leu268Ter) | ClinVar dbSNP |
2 | g.202520106T= | CA1321540220 | BMPR2 | c.872T= (p.Leu291=) c.803T= (p.Leu268=) | |
2 | g.202520107A>C | CA350340720 | BMPR2 | c.873A>C (p.Leu291Phe) c.804A>C (p.Leu268Phe) | |
2 | g.202520107A>G | CA430840388 | BMPR2 | c.873A>G (p.Leu291=) c.804A>G (p.Leu268=) | |
2 | g.202520107A>T | CA350340721 | BMPR2 | c.873A>T (p.Leu291Phe) c.804A>T (p.Leu268Phe) | |
2 | g.202520108A= | CA1321540221 | BMPR2 | c.874A= (p.Ser292=) c.805A= (p.Ser269=) | |
2 | g.202520108A>C | CA350340722 | BMPR2 | c.874A>C (p.Ser292Arg) c.805A>C (p.Ser269Arg) | |
2 | g.202520108A>G | CA350340723 | BMPR2 | c.874A>G (p.Ser292Gly) c.805A>G (p.Ser269Gly) | dbSNP |
2 | g.202520108A>T | CA350340724 | BMPR2 | c.874A>T (p.Ser292Cys) c.805A>T (p.Ser269Cys) | |
2 | g.202520109G>A | CA350340725 | BMPR2 | c.875G>A (p.Ser292Asn) c.806G>A (p.Ser269Asn) | |
2 | g.202520109G>C | CA350340726 | BMPR2 | c.875G>C (p.Ser292Thr) c.806G>C (p.Ser269Thr) | |
2 | g.202520109G>T | CA350340727 | BMPR2 | c.875G>T (p.Ser292Ile) c.806G>T (p.Ser269Ile) | gnomAD v3 gnomAD v4 |
2 | g.202520110T>A | CA350340728 | BMPR2 | c.876T>A (p.Ser292Arg) c.807T>A (p.Ser269Arg) | |
2 | g.202520110T>C | CA430840394 | BMPR2 | c.876T>C (p.Ser292=) c.807T>C (p.Ser269=) | |
2 | g.202520110T>G | CA350340729 | BMPR2 | c.876T>G (p.Ser292Arg) c.807T>G (p.Ser269Arg) | gnomAD v4 |
2 | g.202520111C>A | CA350340730 | BMPR2 | c.877C>A (p.Leu293Ile) c.808C>A (p.Leu270Ile) | |
2 | g.202520111C= | CA1321540222 | BMPR2 | c.877C= (p.Leu293=) c.808C= (p.Leu270=) | |
2 | g.202520111C>G | CA350340731 | BMPR2 | c.877C>G (p.Leu293Val) c.808C>G (p.Leu270Val) | gnomAD v4 |
2 | g.202520111C>T | CA350340732 | BMPR2 | c.877C>T (p.Leu293Phe) c.808C>T (p.Leu270Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520112T>A | CA350340733 | BMPR2 | c.878T>A (p.Leu293His) c.809T>A (p.Leu270His) | |
2 | g.202520112T>C | CA350340734 | BMPR2 | c.878T>C (p.Leu293Pro) c.809T>C (p.Leu270Pro) | gnomAD v4 |
2 | g.202520112T>G | CA350340735 | BMPR2 | c.878T>G (p.Leu293Arg) c.809T>G (p.Leu270Arg) | |
2 | g.202520113C>A | CA430840396 | BMPR2 | c.879C>A (p.Leu293=) c.810C>A (p.Leu270=) | |
2 | g.202520113C>G | CA430840397 | BMPR2 | c.879C>G (p.Leu293=) c.810C>G (p.Leu270=) | |
2 | g.202520113C>T | CA430840398 | BMPR2 | c.879C>T (p.Leu293=) c.810C>T (p.Leu270=) | |
2 | g.202520114C>A | CA350340736 | BMPR2 | c.880C>A (p.His294Asn) c.811C>A (p.His271Asn) | |
2 | g.202520114C>G | CA350340737 | BMPR2 | c.880C>G (p.His294Asp) c.811C>G (p.His271Asp) | |
2 | g.202520114C>T | CA350340738 | BMPR2 | c.880C>T (p.His294Tyr) c.811C>T (p.His271Tyr) | gnomAD v4 |
2 | g.202520115A>C | CA350340739 | BMPR2 | c.881A>C (p.His294Pro) c.812A>C (p.His271Pro) | |
2 | g.202520115A>G | CA350340740 | BMPR2 | c.881A>G (p.His294Arg) c.812A>G (p.His271Arg) | |
2 | g.202520115A>T | CA350340741 | BMPR2 | c.881A>T (p.His294Leu) c.812A>T (p.His271Leu) | |
2 | g.202520116C>A | CA350340742 | BMPR2 | c.882C>A (p.His294Gln) c.813C>A (p.His271Gln) | |
2 | g.202520116C>G | CA350340743 | BMPR2 | c.882C>G (p.His294Gln) c.813C>G (p.His271Gln) | |
2 | g.202520116C>T | CA430840402 | BMPR2 | c.882C>T (p.His294=) c.813C>T (p.His271=) | dbSNP |
2 | g.202520117A= | CA1321540223 | BMPR2 | c.883A= (p.Thr295=) c.814A= (p.Thr272=) | |
2 | g.202520117A>C | CA64016719 | BMPR2 | c.883A>C (p.Thr295Pro) c.814A>C (p.Thr272Pro) | dbSNP gnomAD v4 |
2 | g.202520117A>G | CA350340744 | BMPR2 | c.883A>G (p.Thr295Ala) c.814A>G (p.Thr272Ala) | |
2 | g.202520117A>T | CA350340745 | BMPR2 | c.883A>T (p.Thr295Ser) c.814A>T (p.Thr272Ser) | |
2 | g.202520118C>A | CA350340746 | BMPR2 | c.884C>A (p.Thr295Lys) c.815C>A (p.Thr272Lys) | dbSNP |
2 | g.202520118C= | CA1321540224 | BMPR2 | c.884C= (p.Thr295=) c.815C= (p.Thr272=) | |
2 | g.202520118C>G | CA350340747 | BMPR2 | c.884C>G (p.Thr295Arg) c.815C>G (p.Thr272Arg) | gnomAD v4 |
2 | g.202520118C>T | CA2061243 | BMPR2 | c.884C>T (p.Thr295Ile) c.815C>T (p.Thr272Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520119A>C | CA430840406 | BMPR2 | c.885A>C (p.Thr295=) c.816A>C (p.Thr272=) | gnomAD v4 |
2 | g.202520119A>G | CA430840407 | BMPR2 | c.885A>G (p.Thr295=) c.816A>G (p.Thr272=) | |
2 | g.202520119A>T | CA430840408 | BMPR2 | c.885A>T (p.Thr295=) c.816A>T (p.Thr272=) | gnomAD v4 |
2 | g.202520120A>C | CA350340750 | BMPR2 | c.886A>C (p.Ser296Arg) c.817A>C (p.Ser273Arg) | |
2 | g.202520120A>G | CA350340748 | BMPR2 | c.886A>G (p.Ser296Gly) c.817A>G (p.Ser273Gly) | |
2 | g.202520120A>T | CA350340749 | BMPR2 | c.886A>T (p.Ser296Cys) c.817A>T (p.Ser273Cys) | |
2 | g.202520121G>A | CA350340751 | BMPR2 | c.887G>A (p.Ser296Asn) c.818G>A (p.Ser273Asn) | dbSNP gnomAD v4 |
2 | g.202520121G>C | CA350340752 | BMPR2 | c.887G>C (p.Ser296Thr) c.818G>C (p.Ser273Thr) | |
2 | g.202520121G= | CA1321540225 | BMPR2 | c.887G= (p.Ser296=) c.818G= (p.Ser273=) | |
2 | g.202520121G>T | CA350340753 | BMPR2 | c.887G>T (p.Ser296Ile) c.818G>T (p.Ser273Ile) | |
2 | g.202520122T>A | CA350340754 | BMPR2 | c.888T>A (p.Ser296Arg) c.819T>A (p.Ser273Arg) | |
2 | g.202520122T>C | CA430840413 | BMPR2 | c.888T>C (p.Ser296=) c.819T>C (p.Ser273=) | |
2 | g.202520122T>G | CA350340755 | BMPR2 | c.888T>G (p.Ser296Arg) c.819T>G (p.Ser273Arg) | |
2 | g.202520123G>A | CA350340756 | BMPR2 | c.889G>A (p.Asp297Asn) c.820G>A (p.Asp274Asn) | |
2 | g.202520123G>C | CA350340758 | BMPR2 | c.889G>C (p.Asp297His) c.820G>C (p.Asp274His) | |
2 | g.202520123G>T | CA350340757 | BMPR2 | c.889G>T (p.Asp297Tyr) c.820G>T (p.Asp274Tyr) | |
2 | g.202520124A>C | CA350340759 | BMPR2 | c.890A>C (p.Asp297Ala) c.821A>C (p.Asp274Ala) | |
2 | g.202520124A>G | CA350340760 | BMPR2 | c.890A>G (p.Asp297Gly) c.821A>G (p.Asp274Gly) | |
2 | g.202520124A>T | CA350340761 | BMPR2 | c.890A>T (p.Asp297Val) c.821A>T (p.Asp274Val) | |
2 | g.202520125C>A | CA350340762 | BMPR2 | c.891C>A (p.Asp297Glu) c.822C>A (p.Asp274Glu) | |
2 | g.202520125C>G | CA350340763 | BMPR2 | c.891C>G (p.Asp297Glu) c.822C>G (p.Asp274Glu) | |
2 | g.202520125C>T | CA430840418 | BMPR2 | c.891C>T (p.Asp297=) c.822C>T (p.Asp274=) | |
2 | g.202520126T>A | CA350340764 | BMPR2 | c.892T>A (p.Trp298Arg) c.823T>A (p.Trp275Arg) | |
2 | g.202520126T>C | CA350340765 | BMPR2 | c.892T>C (p.Trp298Arg) c.823T>C (p.Trp275Arg) | |
2 | g.202520126T>G | CA350340766 | BMPR2 | c.892T>G (p.Trp298Gly) c.823T>G (p.Trp275Gly) | |
2 | g.202520126T= | CA1321540226 | BMPR2 | c.892T= (p.Trp298=) c.823T= (p.Trp275=) | |
2 | g.202520127G>A | CA350340767 | BMPR2 | c.893G>A (p.Trp298Ter) c.824G>A (p.Trp275Ter) | ClinVar dbSNP COSMIC |
2 | g.202520127G>C | CA350340768 | BMPR2 | c.893G>C (p.Trp298Ser) c.824G>C (p.Trp275Ser) | |
2 | g.202520127G= | CA1321540227 | BMPR2 | c.893G= (p.Trp298=) c.824G= (p.Trp275=) | |
2 | g.202520127G>T | CA350340769 | BMPR2 | c.893G>T (p.Trp298Leu) c.824G>T (p.Trp275Leu) | gnomAD v4 |
2 | g.202520128_202520129dup | CA645293967 | BMPR2 | c.894_895dup (p.Val299GlyfsTer2) c.825_826dup (p.Val276GlyfsTer2) | ClinVar dbSNP |
2 | g.202520129del | CA2580065458 | BMPR2 | c.895del (p.Val299Ter) c.826del (p.Val276Ter) | ClinVar |
2 | g.202520128G>A | CA350340771 | BMPR2 | c.894G>A (p.Trp298Ter) c.825G>A (p.Trp275Ter) | ClinVar dbSNP |
2 | g.202520128G>C | CA350340772 | BMPR2 | c.894G>C (p.Trp298Cys) c.825G>C (p.Trp275Cys) | gnomAD v4 |
2 | g.202520128G>T | CA350340770 | BMPR2 | c.894G>T (p.Trp298Cys) c.825G>T (p.Trp275Cys) | |
2 | g.202520129G>A | CA350340774 | BMPR2 | c.895G>A (p.Val299Ile) c.826G>A (p.Val276Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.202520129G>C | CA64016751 | BMPR2 | c.895G>C (p.Val299Leu) c.826G>C (p.Val276Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202520129G= | CA1321540228 | BMPR2 | c.895G= (p.Val299=) c.826G= (p.Val276=) | |
2 | g.202520129G>T | CA350340773 | BMPR2 | c.895G>T (p.Val299Leu) c.826G>T (p.Val276Leu) | gnomAD v4 |
2 | g.202520130T>A | CA350340775 | BMPR2 | c.896T>A (p.Val299Glu) c.827T>A (p.Val276Glu) | |
2 | g.202520130T>C | CA350340776 | BMPR2 | c.896T>C (p.Val299Ala) c.827T>C (p.Val276Ala) | |
2 | g.202520130T>G | CA350340777 | BMPR2 | c.896T>G (p.Val299Gly) c.827T>G (p.Val276Gly) | |
2 | g.202520131_202520137del | CA2499215573 | BMPR2 | c.897_903del (p.Ser300AlafsTer?) c.828_834del (p.Ser277AlafsTer?) | ClinVar dbSNP |
2 | g.202520131A>C | CA430840424 | BMPR2 | c.897A>C (p.Val299=) c.828A>C (p.Val276=) | |
2 | g.202520131A>G | CA430840425 | BMPR2 | c.897A>G (p.Val299=) c.828A>G (p.Val276=) | gnomAD v4 |
2 | g.202520131A>T | CA430840426 | BMPR2 | c.897A>T (p.Val299=) c.828A>T (p.Val276=) | |
2 | g.202520132A= | CA1321540229 | BMPR2 | c.898A= (p.Ser300=) c.829A= (p.Ser277=) | |
2 | g.202520132A>C | CA350340778 | BMPR2 | c.898A>C (p.Ser300Arg) c.829A>C (p.Ser277Arg) | |
2 | g.202520132A>G | CA350340779 | BMPR2 | c.898A>G (p.Ser300Gly) c.829A>G (p.Ser277Gly) | dbSNP |
2 | g.202520132A>T | CA350340780 | BMPR2 | c.898A>T (p.Ser300Cys) c.829A>T (p.Ser277Cys) | |
2 | g.202520133G>A | CA350340781 | BMPR2 | c.899G>A (p.Ser300Asn) c.830G>A (p.Ser277Asn) | |
2 | g.202520133G>C | CA350340782 | BMPR2 | c.899G>C (p.Ser300Thr) c.830G>C (p.Ser277Thr) | |
2 | g.202520133G>T | CA350340783 | BMPR2 | c.899G>T (p.Ser300Ile) c.830G>T (p.Ser277Ile) | |
2 | g.202520134C>A | CA2061245 | BMPR2 | c.900C>A (p.Ser300Arg) c.831C>A (p.Ser277Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520134C= | CA1321540230 | BMPR2 | c.900C= (p.Ser300=) c.831C= (p.Ser277=) | |
2 | g.202520134C>G | CA2061244 | BMPR2 | c.900C>G (p.Ser300Arg) c.831C>G (p.Ser277Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520134C>T | CA430840427 | BMPR2 | c.900C>T (p.Ser300=) c.831C>T (p.Ser277=) | dbSNP |
2 | g.202520135T>A | CA350340785 | BMPR2 | c.901T>A (p.Ser301Thr) c.832T>A (p.Ser278Thr) | |
2 | g.202520135T>C | CA10576586 | BMPR2 | c.901T>C (p.Ser301Pro) c.832T>C (p.Ser278Pro) | ClinVar dbSNP |
2 | g.202520135T>G | CA350340784 | BMPR2 | c.901T>G (p.Ser301Ala) c.832T>G (p.Ser278Ala) | COSMIC |
2 | g.202520135T= | CA1321540231 | BMPR2 | c.901T= (p.Ser301=) c.832T= (p.Ser278=) | |
2 | g.202520136C>A | CA350340786 | BMPR2 | c.902C>A (p.Ser301Tyr) c.833C>A (p.Ser278Tyr) | |
2 | g.202520136C>G | CA350340787 | BMPR2 | c.902C>G (p.Ser301Cys) c.833C>G (p.Ser278Cys) | gnomAD v4 |
2 | g.202520136C>T | CA350340788 | BMPR2 | c.902C>T (p.Ser301Phe) c.833C>T (p.Ser278Phe) | gnomAD v4 |
2 | g.202520137T>A | CA430840428 | BMPR2 | c.903T>A (p.Ser301=) c.834T>A (p.Ser278=) | |
2 | g.202520137T>C | CA430840430 | BMPR2 | c.903T>C (p.Ser301=) c.834T>C (p.Ser278=) | |
2 | g.202520137T>G | CA430840429 | BMPR2 | c.903T>G (p.Ser301=) c.834T>G (p.Ser278=) | |
2 | g.202520138T>A | CA350340789 | BMPR2 | c.904T>A (p.Cys302Ser) c.835T>A (p.Cys279Ser) | |
2 | g.202520138T>C | CA350340790 | BMPR2 | c.904T>C (p.Cys302Arg) c.835T>C (p.Cys279Arg) | |
2 | g.202520138T>G | CA350340791 | BMPR2 | c.904T>G (p.Cys302Gly) c.835T>G (p.Cys279Gly) | dbSNP |
2 | g.202520138T= | CA1321540232 | BMPR2 | c.904T= (p.Cys302=) c.835T= (p.Cys279=) | |
2 | g.202520139G>A | CA350340792 | BMPR2 | c.905G>A (p.Cys302Tyr) c.836G>A (p.Cys279Tyr) | dbSNP |
2 | g.202520139G>C | CA350340793 | BMPR2 | c.905G>C (p.Cys302Ser) c.836G>C (p.Cys279Ser) | |
2 | g.202520139G= | CA1321540233 | BMPR2 | c.905G= (p.Cys302=) c.836G= (p.Cys279=) | |
2 | g.202520139G>T | CA350340794 | BMPR2 | c.905G>T (p.Cys302Phe) c.836G>T (p.Cys279Phe) | |
2 | g.202520140C>A | CA350340795 | BMPR2 | c.906C>A (p.Cys302Ter) c.837C>A (p.Cys279Ter) | |
2 | g.202520140C= | CA1321540234 | BMPR2 | c.906C= (p.Cys302=) c.837C= (p.Cys279=) | |
2 | g.202520140C>G | CA350340796 | BMPR2 | c.906C>G (p.Cys302Trp) c.837C>G (p.Cys279Trp) | |
2 | g.202520140C>T | CA430840431 | BMPR2 | c.906C>T (p.Cys302=) c.837C>T (p.Cys279=) | dbSNP |
2 | g.202520141C>A | CA350340797 | BMPR2 | c.907C>A (p.Arg303Ser) c.838C>A (p.Arg280Ser) | |
2 | g.202520141C= | CA1321540235 | BMPR2 | c.907C= (p.Arg303=) c.838C= (p.Arg280=) | |
2 | g.202520141C>G | CA350340798 | BMPR2 | c.907C>G (p.Arg303Gly) c.838C>G (p.Arg280Gly) | |
2 | g.202520141C>T | CA2061246 | BMPR2 | c.907C>T (p.Arg303Cys) c.838C>T (p.Arg280Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520142G>A | CA2061247 | BMPR2 | c.908G>A (p.Arg303His) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520142G>C | CA350340800 | BMPR2 | c.908G>C (p.Arg303Pro) c.839G>C (p.Arg280Pro) | |
2 | g.202520142G= | CA1321540236 | BMPR2 | c.908G= (p.Arg303=) c.839G= (p.Arg280=) | |
2 | g.202520142G>T | CA350340799 | BMPR2 | c.908G>T (p.Arg303Leu) c.839G>T (p.Arg280Leu) | |
2 | g.202520143T>A | CA430840432 | BMPR2 | c.909T>A (p.Arg303=) c.840T>A (p.Arg280=) | |
2 | g.202520143T>C | CA430840433 | BMPR2 | c.909T>C (p.Arg303=) c.840T>C (p.Arg280=) | |
2 | g.202520143T>G | CA430840434 | BMPR2 | c.909T>G (p.Arg303=) c.840T>G (p.Arg280=) | |
2 | g.202520144C>A | CA350340801 | BMPR2 | c.910C>A (p.Leu304Ile) c.841C>A (p.Leu281Ile) | |
2 | g.202520144C>G | CA350340802 | BMPR2 | c.910C>G (p.Leu304Val) c.841C>G (p.Leu281Val) | |
2 | g.202520144C>T | CA350340803 | BMPR2 | c.910C>T (p.Leu304Phe) c.841C>T (p.Leu281Phe) | |
2 | g.202520145T>A | CA350340804 | BMPR2 | c.911T>A (p.Leu304His) c.842T>A (p.Leu281His) | |
2 | g.202520145T>C | CA350340805 | BMPR2 | c.911T>C (p.Leu304Pro) c.842T>C (p.Leu281Pro) | |
2 | g.202520145T>G | CA350340806 | BMPR2 | c.911T>G (p.Leu304Arg) c.842T>G (p.Leu281Arg) | |
2 | g.202520146T>A | CA430840435 | BMPR2 | c.912T>A (p.Leu304=) c.843T>A (p.Leu281=) | |
2 | g.202520146T>C | CA430840436 | BMPR2 | c.912T>C (p.Leu304=) c.843T>C (p.Leu281=) | |
2 | g.202520146T>G | CA430840437 | BMPR2 | c.912T>G (p.Leu304=) c.843T>G (p.Leu281=) | |
2 | g.202520147G>A | CA350340807 | BMPR2 | c.913G>A (p.Ala305Thr) c.844G>A (p.Ala282Thr) | |
2 | g.202520147G>C | CA350340808 | BMPR2 | c.913G>C (p.Ala305Pro) c.844G>C (p.Ala282Pro) | |
2 | g.202520147G>T | CA350340809 | BMPR2 | c.913G>T (p.Ala305Ser) c.844G>T (p.Ala282Ser) | |
2 | g.202520148C>A | CA350340810 | BMPR2 | c.914C>A (p.Ala305Asp) c.845C>A (p.Ala282Asp) | |
2 | g.202520148C= | CA1321540237 | BMPR2 | c.914C= (p.Ala305=) c.845C= (p.Ala282=) | |
2 | g.202520148C>G | CA350340811 | BMPR2 | c.914C>G (p.Ala305Gly) c.845C>G (p.Ala282Gly) | dbSNP |
2 | g.202520148C>T | CA2061248 | BMPR2 | c.914C>T (p.Ala305Val) c.845C>T (p.Ala282Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202520149T>A | CA430840438 | BMPR2 | c.915T>A (p.Ala305=) c.846T>A (p.Ala282=) | |
2 | g.202520149T>C | CA430840439 | BMPR2 | c.915T>C (p.Ala305=) c.846T>C (p.Ala282=) | gnomAD v4 |
2 | g.202520149T>G | CA430840440 | BMPR2 | c.915T>G (p.Ala305=) c.846T>G (p.Ala282=) | |
2 | g.202520150C>A | CA350340814 | BMPR2 | c.916C>A (p.His306Asn) c.847C>A (p.His283Asn) | |
2 | g.202520150C>G | CA350340812 | BMPR2 | c.916C>G (p.His306Asp) c.847C>G (p.His283Asp) | |
2 | g.202520150C>T | CA350340813 | BMPR2 | c.916C>T (p.His306Tyr) c.847C>T (p.His283Tyr) | gnomAD v4 |
2 | g.202520151A= | CA1321540238 | BMPR2 | c.917A= (p.His306=) c.848A= (p.His283=) | |
2 | g.202520151A>C | CA350340815 | BMPR2 | c.917A>C (p.His306Pro) c.848A>C (p.His283Pro) | ClinVar dbSNP |
2 | g.202520151A>G | CA350340816 | BMPR2 | c.917A>G (p.His306Arg) c.848A>G (p.His283Arg) | |
2 | g.202520151A>T | CA350340817 | BMPR2 | c.917A>T (p.His306Leu) c.848A>T (p.His283Leu) | |
2 | g.202520152T>A | CA350340818 | BMPR2 | c.918T>A (p.His306Gln) c.849T>A (p.His283Gln) | |
2 | g.202520152T>C | CA2061249 | BMPR2 | c.918T>C (p.His306=) c.849T>C (p.His283=) | dbSNP ExAC gnomAD v4 |
2 | g.202520152T>G | CA350340819 | BMPR2 | c.918T>G (p.His306Gln) c.849T>G (p.His283Gln) | COSMIC |
2 | g.202520152T= | CA1321540239 | BMPR2 | c.918T= (p.His306=) c.849T= (p.His283=) | |
2 | g.202520152_202520155del | CA2586965546 | BMPR2 | c.918_921del (p.His306GlnfsTer28) c.849_852del (p.His283GlnfsTer28) | |
2 | g.202520153T>A | CA350340820 | BMPR2 | c.919T>A (p.Ser307Thr) c.850T>A (p.Ser284Thr) | |
2 | g.202520153T>C | CA350340821 | BMPR2 | c.919T>C (p.Ser307Pro) c.850T>C (p.Ser284Pro) | |
2 | g.202520153T>G | CA350340822 | BMPR2 | c.919T>G (p.Ser307Ala) c.850T>G (p.Ser284Ala) | |
2 | g.202520154C>A | CA350340823 | BMPR2 | c.920C>A (p.Ser307Tyr) c.851C>A (p.Ser284Tyr) | |
2 | g.202520154C>G | CA350340824 | BMPR2 | c.920C>G (p.Ser307Cys) c.851C>G (p.Ser284Cys) | |
2 | g.202520154C>T | CA350340825 | BMPR2 | c.920C>T (p.Ser307Phe) c.851C>T (p.Ser284Phe) | gnomAD v4 COSMIC |
2 | g.202520155T>A | CA430840441 | BMPR2 | c.921T>A (p.Ser307=) c.852T>A (p.Ser284=) | dbSNP gnomAD v2 |
2 | g.202520155T>C | CA430840442 | BMPR2 | c.921T>C (p.Ser307=) c.852T>C (p.Ser284=) | |
2 | g.202520155T>G | CA430840443 | BMPR2 | c.921T>G (p.Ser307=) c.852T>G (p.Ser284=) | |
2 | g.202520155T= | CA1321540240 | BMPR2 | c.921T= (p.Ser307=) c.852T= (p.Ser284=) | |
2 | g.202520156G>A | CA350340828 | BMPR2 | c.922G>A (p.Val308Ile) c.853G>A (p.Val285Ile) | gnomAD v4 |
2 | g.202520156G>C | CA350340827 | BMPR2 | c.922G>C (p.Val308Leu) c.853G>C (p.Val285Leu) | |
2 | g.202520156G>T | CA350340826 | BMPR2 | c.922G>T (p.Val308Phe) c.853G>T (p.Val285Phe) | |
2 | g.202520157T>A | CA350340831 | BMPR2 | c.923T>A (p.Val308Asp) c.854T>A (p.Val285Asp) | |
2 | g.202520157T>C | CA350340829 | BMPR2 | c.923T>C (p.Val308Ala) c.854T>C (p.Val285Ala) | |
2 | g.202520157T>G | CA350340830 | BMPR2 | c.923T>G (p.Val308Gly) c.854T>G (p.Val285Gly) | |
2 | g.202520158T>A | CA2061250 | BMPR2 | c.924T>A (p.Val308=) c.855T>A (p.Val285=) | dbSNP ExAC gnomAD v2 |
2 | g.202520158T>C | CA430840444 | BMPR2 | c.924T>C (p.Val308=) c.855T>C (p.Val285=) | |
2 | g.202520158T>G | CA430840445 | BMPR2 | c.924T>G (p.Val308=) c.855T>G (p.Val285=) | |
2 | g.202520158T= | CA1321540241 | BMPR2 | c.924T= (p.Val308=) c.855T= (p.Val285=) | |
2 | g.202520159A= | CA1321540242 | BMPR2 | c.925A= (p.Thr309=) c.856A= (p.Thr286=) | |
2 | g.202520159A>C | CA350340832 | BMPR2 | c.925A>C (p.Thr309Pro) c.856A>C (p.Thr286Pro) | |
2 | g.202520159A>G | CA2061251 | BMPR2 | c.925A>G (p.Thr309Ala) c.856A>G (p.Thr286Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520159A>T | CA350340833 | BMPR2 | c.925A>T (p.Thr309Ser) c.856A>T (p.Thr286Ser) | |
2 | g.202520160C>A | CA350340834 | BMPR2 | c.926C>A (p.Thr309Asn) c.857C>A (p.Thr286Asn) | |
2 | g.202520160C>G | CA350340835 | BMPR2 | c.926C>G (p.Thr309Ser) c.857C>G (p.Thr286Ser) | |
2 | g.202520160C>T | CA350340836 | BMPR2 | c.926C>T (p.Thr309Ile) c.857C>T (p.Thr286Ile) | gnomAD v4 |
2 | g.202520161T>A | CA430840446 | BMPR2 | c.927T>A (p.Thr309=) c.858T>A (p.Thr286=) | |
2 | g.202520161T>C | CA430840447 | BMPR2 | c.927T>C (p.Thr309=) c.858T>C (p.Thr286=) | gnomAD v4 |
2 | g.202520161T>G | CA430840448 | BMPR2 | c.927T>G (p.Thr309=) c.858T>G (p.Thr286=) | |
2 | g.202520162A= | CA1321540243 | BMPR2 | c.928A= (p.Arg310=) c.859A= (p.Arg287=) | |
2 | g.202520162A>C | CA430840449 | BMPR2 | c.928A>C (p.Arg310=) c.859A>C (p.Arg287=) | |
2 | g.202520162A>G | CA350340837 | BMPR2 | c.928A>G (p.Arg310Gly) c.859A>G (p.Arg287Gly) | |
2 | g.202520162A>T | CA350340838 | BMPR2 | c.928A>T (p.Arg310Ter) c.859A>T (p.Arg287Ter) | ClinVar dbSNP |
2 | g.202520163G>A | CA350340839 | BMPR2 | c.929G>A (p.Arg310Lys) c.860G>A (p.Arg287Lys) | |
2 | g.202520163G>C | CA350340840 | BMPR2 | c.929G>C (p.Arg310Thr) c.860G>C (p.Arg287Thr) | |
2 | g.202520163G= | CA1321540244 | BMPR2 | c.929G= (p.Arg310=) c.860G= (p.Arg287=) | |
2 | g.202520163G>T | CA2061252 | BMPR2 | c.929G>T (p.Arg310Ile) c.860G>T (p.Arg287Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202520164A>C | CA350340842 | BMPR2 | c.930A>C (p.Arg310Ser) c.861A>C (p.Arg287Ser) | |
2 | g.202520164A>G | CA430840450 | BMPR2 | c.930A>G (p.Arg310=) c.861A>G (p.Arg287=) | |
2 | g.202520164A>T | CA350340841 | BMPR2 | c.930A>T (p.Arg310Ser) c.861A>T (p.Arg287Ser) | |
2 | g.202520165G>A | CA350340843 | BMPR2 | c.931G>A (p.Gly311Arg) c.862G>A (p.Gly288Arg) | COSMIC |
2 | g.202520165G>C | CA350340844 | BMPR2 | c.931G>C (p.Gly311Arg) c.862G>C (p.Gly288Arg) | |
2 | g.202520165G>T | CA350340845 | BMPR2 | c.931G>T (p.Gly311Ter) c.862G>T (p.Gly288Ter) | |
2 | g.202520166G>A | CA350340846 | BMPR2 | c.932G>A (p.Gly311Glu) c.863G>A (p.Gly288Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.202520166G>C | CA350340847 | BMPR2 | c.932G>C (p.Gly311Ala) c.863G>C (p.Gly288Ala) | |
2 | g.202520166G= | CA1321540245 | BMPR2 | c.932G= (p.Gly311=) c.863G= (p.Gly288=) | |
2 | g.202520166G>T | CA350340848 | BMPR2 | c.932G>T (p.Gly311Val) c.863G>T (p.Gly288Val) | |
2 | g.202520167A>C | CA430840452 | BMPR2 | c.933A>C (p.Gly311=) c.864A>C (p.Gly288=) | |
2 | g.202520167A>G | CA430840453 | BMPR2 | c.933A>G (p.Gly311=) c.864A>G (p.Gly288=) | |
2 | g.202520167A>T | CA430840451 | BMPR2 | c.933A>T (p.Gly311=) c.864A>T (p.Gly288=) | |
2 | g.202520168C>A | CA350340850 | BMPR2 | c.934C>A (p.Leu312Met) c.865C>A (p.Leu289Met) | COSMIC |
2 | g.202520168C>G | CA350340849 | BMPR2 | c.934C>G (p.Leu312Val) c.865C>G (p.Leu289Val) | |
2 | g.202520168C>T | CA430840454 | BMPR2 | c.934C>T (p.Leu312=) c.865C>T (p.Leu289=) | |
2 | g.202520169T>A | CA350340851 | BMPR2 | c.935T>A (p.Leu312Gln) c.866T>A (p.Leu289Gln) | |
2 | g.202520169T>C | CA350340852 | BMPR2 | c.935T>C (p.Leu312Pro) c.866T>C (p.Leu289Pro) | ClinVar dbSNP |
2 | g.202520169T>G | CA350340853 | BMPR2 | c.935T>G (p.Leu312Arg) c.866T>G (p.Leu289Arg) | |
2 | g.202520170G>A | CA430840457 | BMPR2 | c.936G>A (p.Leu312=) c.867G>A (p.Leu289=) | |
2 | g.202520170G>C | CA430840456 | BMPR2 | c.936G>C (p.Leu312=) c.867G>C (p.Leu289=) | |
2 | g.202520170G>T | CA430840455 | BMPR2 | c.936G>T (p.Leu312=) c.867G>T (p.Leu289=) | |
2 | g.202520171G>A | CA350340854 | BMPR2 | c.937G>A (p.Ala313Thr) c.868G>A (p.Ala290Thr) | |
2 | g.202520171G>C | CA350340855 | BMPR2 | c.937G>C (p.Ala313Pro) c.868G>C (p.Ala290Pro) | ClinVar dbSNP |
2 | g.202520171G= | CA1321540246 | BMPR2 | c.937G= (p.Ala313=) c.868G= (p.Ala290=) | |
2 | g.202520171G>T | CA350340856 | BMPR2 | c.937G>T (p.Ala313Ser) c.868G>T (p.Ala290Ser) |