Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.95154506_95154522del | CA2671465612 | BMPR1B | c.1474-42_1474-26del (n.1474-42_1474-26del) c.1384-42_1384-26del (n.1384-42_1384-26del) | gnomAD v4 |
4 | g.95154519dup | CA2762706569 | BMPR1B | c.1474-29dup (n.1474-29dup) c.1384-29dup (n.1384-29dup) | |
4 | g.95154520A= | CA1477970114 | BMPR1B | c.1474-28A= (n.1474-28A=) c.1384-28A= (n.1384-28A=) | |
4 | g.95154520A>T | CA1065629966 | BMPR1B | c.1474-28A>T (n.1474-28A>T) c.1384-28A>T (n.1384-28A>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.95154520dup | CA2578148228 | BMPR1B | c.1474-28dup (n.1474-28dup) c.1384-28dup (n.1384-28dup) | gnomAD v4 |
4 | g.95154521C>A | CA2671465613 | BMPR1B | c.1474-27C>A (n.1474-27C>A) c.1384-27C>A (n.1384-27C>A) | gnomAD v4 |
4 | g.95154521C= | CA1477970115 | BMPR1B | c.1474-27C= (n.1474-27C=) c.1384-27C= (n.1384-27C=) | |
4 | g.95154521C>G | CA1477970117 | BMPR1B | c.1474-27C>G (n.1474-27C>G) c.1384-27C>G (n.1384-27C>G) | dbSNP gnomAD v4 |
4 | g.95154521C>T | CA1477970116 | BMPR1B | c.1474-27C>T (n.1474-27C>T) c.1384-27C>T (n.1384-27C>T) | dbSNP gnomAD v4 |
4 | g.95154522A= | CA1477970118 | BMPR1B | c.1474-26A= (n.1474-26A=) c.1384-26A= (n.1384-26A=) | |
4 | g.95154522A>C | CA1477970119 | BMPR1B | c.1474-26A>C (n.1474-26A>C) c.1384-26A>C (n.1384-26A>C) | dbSNP |
4 | g.95154528C>A | CA101681735 | BMPR1B | c.1474-20C>A (n.1474-20C>A) c.1384-20C>A (n.1384-20C>A) | dbSNP gnomAD v4 |
4 | g.95154528C= | CA1477970120 | BMPR1B | c.1474-20C= (n.1474-20C=) c.1384-20C= (n.1384-20C=) | |
4 | g.95154528C>G | CA2671465614 | BMPR1B | c.1474-20C>G (n.1474-20C>G) c.1384-20C>G (n.1384-20C>G) | gnomAD v4 |
4 | g.95154529T>C | CA2671465615 | BMPR1B | c.1474-19T>C (n.1474-19T>C) c.1384-19T>C (n.1384-19T>C) | gnomAD v4 |
4 | g.95154529T>G | CA3015244 | BMPR1B | c.1474-19T>G (n.1474-19T>G) c.1384-19T>G (n.1384-19T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154529T= | CA1477970121 | BMPR1B | c.1474-19T= (n.1474-19T=) c.1384-19T= (n.1384-19T=) | |
4 | g.95154530A= | CA1477970122 | BMPR1B | c.1474-18A= (n.1474-18A=) c.1384-18A= (n.1384-18A=) | |
4 | g.95154530A>G | CA1477970123 | BMPR1B | c.1474-18A>G (n.1474-18A>G) c.1384-18A>G (n.1384-18A>G) | dbSNP gnomAD v4 |
4 | g.95154531del | CA2671465616 | BMPR1B | c.1474-17del (n.1474-17del) c.1384-17del (n.1384-17del) | gnomAD v4 |
4 | g.95154532C= | CA1477970124 | BMPR1B | c.1474-16C= (n.1474-16C=) c.1384-16C= (n.1384-16C=) | |
4 | g.95154532C>T | CA3015245 | BMPR1B | c.1474-16C>T (n.1474-16C>T) c.1384-16C>T (n.1384-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154533A= | CA1477970125 | BMPR1B | c.1474-15A= (n.1474-15A=) c.1384-15A= (n.1384-15A=) | |
4 | g.95154533A>G | CA1065629967 | BMPR1B | c.1474-15A>G (n.1474-15A>G) c.1384-15A>G (n.1384-15A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.95154535T>C | CA2671465617 | BMPR1B | c.1474-13T>C (n.1474-13T>C) c.1384-13T>C (n.1384-13T>C) | gnomAD v4 |
4 | g.95154536T>C | CA649301972 | BMPR1B | c.1474-12T>C (n.1474-12T>C) c.1384-12T>C (n.1384-12T>C) | COSMIC |
4 | g.95154537C= | CA1477970126 | BMPR1B | c.1474-11C= (n.1474-11C=) c.1384-11C= (n.1384-11C=) | |
4 | g.95154537C>T | CA553213814 | BMPR1B | c.1474-11C>T (n.1474-11C>T) c.1384-11C>T (n.1384-11C>T) | dbSNP gnomAD v2 |
4 | g.95154539C= | CA1477970127 | BMPR1B | c.1474-9C= (n.1474-9C=) c.1384-9C= (n.1384-9C=) | |
4 | g.95154539C>T | CA553213816 | BMPR1B | c.1474-9C>T (n.1474-9C>T) c.1384-9C>T (n.1384-9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154540T>C | CA3015246 | BMPR1B | c.1474-8T>C (n.1474-8T>C) c.1384-8T>C (n.1384-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154540T>G | CA2671465618 | BMPR1B | c.1474-8T>G (n.1474-8T>G) c.1384-8T>G (n.1384-8T>G) | gnomAD v4 |
4 | g.95154540T= | CA1477970128 | BMPR1B | c.1474-8T= (n.1474-8T=) c.1384-8T= (n.1384-8T=) | |
4 | g.95154541T>C | CA2671465619 | BMPR1B | c.1474-7T>C (n.1474-7T>C) c.1384-7T>C (n.1384-7T>C) | gnomAD v4 |
4 | g.95154542C= | CA1477970129 | BMPR1B | c.1474-6C= (n.1474-6C=) c.1384-6C= (n.1384-6C=) | |
4 | g.95154542C>T | CA3015247 | BMPR1B | c.1474-6C>T (n.1474-6C>T) c.1384-6C>T (n.1384-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154544T>C | CA3015248 | BMPR1B | c.1474-4T>C (n.1474-4T>C) c.1384-4T>C (n.1384-4T>C) | dbSNP ExAC gnomAD v2 |
4 | g.95154544T= | CA1477970130 | BMPR1B | c.1474-4T= (n.1474-4T=) c.1384-4T= (n.1384-4T=) | |
4 | g.95154545C>A | CA2548886844 | BMPR1B | c.1474-3C>A (n.1474-3C>A) c.1384-3C>A (n.1384-3C>A) | |
4 | g.95154546A>C | CA357687866 | BMPR1B | c.1474-2A>C (n.1474-2A>C) c.1384-2A>C (n.1384-2A>C) | |
4 | g.95154546A>G | CA357687868 | BMPR1B | c.1474-2A>G (n.1474-2A>G) c.1384-2A>G (n.1384-2A>G) | |
4 | g.95154546A>T | CA357687870 | BMPR1B | c.1474-2A>T (n.1474-2A>T) c.1384-2A>T (n.1384-2A>T) | |
4 | g.95154547G>A | CA357687871 | BMPR1B | c.1474-1G>A (n.1474-1G>A) c.1384-1G>A (n.1384-1G>A) | |
4 | g.95154547G>C | CA357687873 | BMPR1B | c.1474-1G>C (n.1474-1G>C) c.1384-1G>C (n.1384-1G>C) | |
4 | g.95154547G>T | CA357687880 | BMPR1B | c.1474-1G>T (n.1474-1G>T) c.1384-1G>T (n.1384-1G>T) | |
4 | g.95154548T>A | CA357687883 | BMPR1B | c.1474T>A (p.Cys492Ser) c.1384T>A (p.Cys462Ser) | |
4 | g.95154548T>C | CA357687884 | BMPR1B | c.1474T>C (p.Cys492Arg) c.1384T>C (p.Cys462Arg) | dbSNP gnomAD v4 |
4 | g.95154548T>G | CA357687886 | BMPR1B | c.1474T>G (p.Cys492Gly) c.1384T>G (p.Cys462Gly) | |
4 | g.95154548T= | CA1477970131 | BMPR1B | c.1474T= (p.Cys492=) c.1384T= (p.Cys462=) | |
4 | g.95154549G>A | CA3015250 | BMPR1B | c.1475G>A (p.Cys492Tyr) c.1385G>A (p.Cys462Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154549G>C | CA357687890 | BMPR1B | c.1475G>C (p.Cys492Ser) c.1385G>C (p.Cys462Ser) | |
4 | g.95154549G= | CA1477970132 | BMPR1B | c.1475G= (p.Cys492=) c.1385G= (p.Cys462=) | |
4 | g.95154549G>T | CA3015249 | BMPR1B | c.1475G>T (p.Cys492Phe) c.1385G>T (p.Cys462Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154550T>A | CA357687892 | BMPR1B | c.1476T>A (p.Cys492Ter) c.1386T>A (p.Cys462Ter) | |
4 | g.95154550T>C | CA440414776 | BMPR1B | c.1476T>C (p.Cys492=) c.1386T>C (p.Cys462=) | |
4 | g.95154550T>G | CA357687894 | BMPR1B | c.1476T>G (p.Cys492Trp) c.1386T>G (p.Cys462Trp) | gnomAD v4 |
4 | g.95154551C>A | CA357687896 | BMPR1B | c.1477C>A (p.Leu493Ile) c.1387C>A (p.Leu463Ile) | |
4 | g.95154551C>G | CA357687898 | BMPR1B | c.1477C>G (p.Leu493Val) c.1387C>G (p.Leu463Val) | |
4 | g.95154551C>T | CA440414777 | BMPR1B | c.1477C>T (p.Leu493=) c.1387C>T (p.Leu463=) | |
4 | g.95154552T>A | CA357687900 | BMPR1B | c.1478T>A (p.Leu493Gln) c.1388T>A (p.Leu463Gln) | |
4 | g.95154552T>C | CA357687902 | BMPR1B | c.1478T>C (p.Leu493Pro) c.1388T>C (p.Leu463Pro) | |
4 | g.95154552T>G | CA357687904 | BMPR1B | c.1478T>G (p.Leu493Arg) c.1388T>G (p.Leu463Arg) | |
4 | g.95154553A>C | CA440414778 | BMPR1B | c.1479A>C (p.Leu493=) c.1389A>C (p.Leu463=) | |
4 | g.95154553A>G | CA440414779 | BMPR1B | c.1479A>G (p.Leu493=) c.1389A>G (p.Leu463=) | |
4 | g.95154553A>T | CA440414780 | BMPR1B | c.1479A>T (p.Leu493=) c.1389A>T (p.Leu463=) | |
4 | g.95154554A>C | CA440414781 | BMPR1B | c.1480A>C (p.Arg494=) c.1390A>C (p.Arg464=) | |
4 | g.95154554A>G | CA357687906 | BMPR1B | c.1480A>G (p.Arg494Gly) c.1390A>G (p.Arg464Gly) | |
4 | g.95154554A>T | CA357687908 | BMPR1B | c.1480A>T (p.Arg494Trp) c.1390A>T (p.Arg464Trp) | |
4 | g.95154555G>A | CA357687910 | BMPR1B | c.1481G>A (p.Arg494Lys) c.1391G>A (p.Arg464Lys) | gnomAD v4 |
4 | g.95154555G>C | CA357687911 | BMPR1B | c.1481G>C (p.Arg494Thr) c.1391G>C (p.Arg464Thr) | |
4 | g.95154555G>T | CA357687913 | BMPR1B | c.1481G>T (p.Arg494Met) c.1391G>T (p.Arg464Met) | |
4 | g.95154556G>A | CA440414782 | BMPR1B | c.1482G>A (p.Arg494=) c.1392G>A (p.Arg464=) | |
4 | g.95154556G>C | CA357687915 | BMPR1B | c.1482G>C (p.Arg494Ser) c.1392G>C (p.Arg464Ser) | |
4 | g.95154556G= | CA1477970133 | BMPR1B | c.1482G= (p.Arg494=) c.1392G= (p.Arg464=) | |
4 | g.95154556G>T | CA357687916 | BMPR1B | c.1482G>T (p.Arg494Ser) c.1392G>T (p.Arg464Ser) | dbSNP gnomAD v2 |
4 | g.95154557C>A | CA357687918 | BMPR1B | c.1483C>A (p.Gln495Lys) c.1393C>A (p.Gln465Lys) | |
4 | g.95154557C>G | CA357687920 | BMPR1B | c.1483C>G (p.Gln495Glu) c.1393C>G (p.Gln465Glu) | |
4 | g.95154557C>T | CA357687921 | BMPR1B | c.1483C>T (p.Gln495Ter) c.1393C>T (p.Gln465Ter) | ClinVar |
4 | g.95154558A= | CA1477970134 | BMPR1B | c.1484A= (p.Gln495=) c.1394A= (p.Gln465=) | |
4 | g.95154558A>C | CA357687923 | BMPR1B | c.1484A>C (p.Gln495Pro) c.1394A>C (p.Gln465Pro) | |
4 | g.95154558A>G | CA3015251 | BMPR1B | c.1484A>G (p.Gln495Arg) c.1394A>G (p.Gln465Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154558A>T | CA357687925 | BMPR1B | c.1484A>T (p.Gln495Leu) c.1394A>T (p.Gln465Leu) | |
4 | g.95154559G>A | CA440414783 | BMPR1B | c.1485G>A (p.Gln495=) c.1395G>A (p.Gln465=) | |
4 | g.95154559G>C | CA357687928 | BMPR1B | c.1485G>C (p.Gln495His) c.1395G>C (p.Gln465His) | |
4 | g.95154559G>T | CA357687930 | BMPR1B | c.1485G>T (p.Gln495His) c.1395G>T (p.Gln465His) | |
4 | g.95154560A= | CA1477970135 | BMPR1B | c.1486A= (p.Met496=) c.1396A= (p.Met466=) | |
4 | g.95154560A>C | CA357687931 | BMPR1B | c.1486A>C (p.Met496Leu) c.1396A>C (p.Met466Leu) | |
4 | g.95154560A>G | CA357687933 | BMPR1B | c.1486A>G (p.Met496Val) c.1396A>G (p.Met466Val) | |
4 | g.95154560A>T | CA3015252 | BMPR1B | c.1486A>T (p.Met496Leu) c.1396A>T (p.Met466Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154561T>A | CA357687934 | BMPR1B | c.1487T>A (p.Met496Lys) c.1397T>A (p.Met466Lys) | |
4 | g.95154561T>C | CA357687936 | BMPR1B | c.1487T>C (p.Met496Thr) c.1397T>C (p.Met466Thr) | |
4 | g.95154561T>G | CA357687938 | BMPR1B | c.1487T>G (p.Met496Arg) c.1397T>G (p.Met466Arg) | |
4 | g.95154562G>A | CA357687940 | BMPR1B | c.1488G>A (p.Met496Ile) c.1398G>A (p.Met466Ile) | |
4 | g.95154562G>C | CA357687942 | BMPR1B | c.1488G>C (p.Met496Ile) c.1398G>C (p.Met466Ile) | |
4 | g.95154562G>T | CA357687943 | BMPR1B | c.1488G>T (p.Met496Ile) c.1398G>T (p.Met466Ile) | |
4 | g.95154563G>A | CA357687950 | BMPR1B | c.1489G>A (p.Gly497Arg) c.1399G>A (p.Gly467Arg) | gnomAD v4 |
4 | g.95154563G>C | CA357687948 | BMPR1B | c.1489G>C (p.Gly497Arg) c.1399G>C (p.Gly467Arg) | |
4 | g.95154563G>T | CA357687946 | BMPR1B | c.1489G>T (p.Gly497Ter) c.1399G>T (p.Gly467Ter) | |
4 | g.95154564G>A | CA357687956 | BMPR1B | c.1490G>A (p.Gly497Glu) c.1400G>A (p.Gly467Glu) | gnomAD v4 |
4 | g.95154564G>C | CA357687952 | BMPR1B | c.1490G>C (p.Gly497Ala) c.1400G>C (p.Gly467Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.95154564G= | CA1477970136 | BMPR1B | c.1490G= (p.Gly497=) c.1400G= (p.Gly467=) | |
4 | g.95154564G>T | CA357687954 | BMPR1B | c.1490G>T (p.Gly497Val) c.1400G>T (p.Gly467Val) | |
4 | g.95154565A= | CA1477970137 | BMPR1B | c.1491A= (p.Gly497=) c.1401A= (p.Gly467=) | |
4 | g.95154565A>C | CA440414784 | BMPR1B | c.1491A>C (p.Gly497=) c.1401A>C (p.Gly467=) | |
4 | g.95154565A>G | CA440414785 | BMPR1B | c.1491A>G (p.Gly497=) c.1401A>G (p.Gly467=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.95154565A>T | CA440414786 | BMPR1B | c.1491A>T (p.Gly497=) c.1401A>T (p.Gly467=) | |
4 | g.95154566A>C | CA357687958 | BMPR1B | c.1492A>C (p.Lys498Gln) c.1402A>C (p.Lys468Gln) | |
4 | g.95154566A>G | CA357687959 | BMPR1B | c.1492A>G (p.Lys498Glu) c.1402A>G (p.Lys468Glu) | |
4 | g.95154566A>T | CA357687961 | BMPR1B | c.1492A>T (p.Lys498Ter) c.1402A>T (p.Lys468Ter) | |
4 | g.95154567A>C | CA357687963 | BMPR1B | c.1493A>C (p.Lys498Thr) c.1403A>C (p.Lys468Thr) | |
4 | g.95154567A>G | CA357687965 | BMPR1B | c.1493A>G (p.Lys498Arg) c.1403A>G (p.Lys468Arg) | gnomAD v4 |
4 | g.95154567A>T | CA357687966 | BMPR1B | c.1493A>T (p.Lys498Ile) c.1403A>T (p.Lys468Ile) | |
4 | g.95154568A>C | CA357687968 | BMPR1B | c.1494A>C (p.Lys498Asn) c.1404A>C (p.Lys468Asn) | |
4 | g.95154568A>G | CA440414787 | BMPR1B | c.1494A>G (p.Lys498=) c.1404A>G (p.Lys468=) | |
4 | g.95154568A>T | CA357687970 | BMPR1B | c.1494A>T (p.Lys498Asn) c.1404A>T (p.Lys468Asn) | |
4 | g.95154569C>A | CA357687972 | BMPR1B | c.1495C>A (p.Leu499Ile) c.1405C>A (p.Leu469Ile) | COSMIC COSMIC COSMIC |
4 | g.95154569C>G | CA357687974 | BMPR1B | c.1495C>G (p.Leu499Val) c.1405C>G (p.Leu469Val) | gnomAD v4 |
4 | g.95154569C>T | CA357687976 | BMPR1B | c.1495C>T (p.Leu499Phe) c.1405C>T (p.Leu469Phe) | |
4 | g.95154570T>A | CA357687982 | BMPR1B | c.1496T>A (p.Leu499His) c.1406T>A (p.Leu469His) | |
4 | g.95154570T>C | CA357687978 | BMPR1B | c.1496T>C (p.Leu499Pro) c.1406T>C (p.Leu469Pro) | |
4 | g.95154570T>G | CA357687980 | BMPR1B | c.1496T>G (p.Leu499Arg) c.1406T>G (p.Leu469Arg) | |
4 | g.95154571C>A | CA440414788 | BMPR1B | c.1497C>A (p.Leu499=) c.1407C>A (p.Leu469=) | |
4 | g.95154571C>G | CA440414789 | BMPR1B | c.1497C>G (p.Leu499=) c.1407C>G (p.Leu469=) | |
4 | g.95154571C>T | CA440414790 | BMPR1B | c.1497C>T (p.Leu499=) c.1407C>T (p.Leu469=) | gnomAD v4 |
4 | g.95154572A>C | CA357687984 | BMPR1B | c.1498A>C (p.Met500Leu) c.1408A>C (p.Met470Leu) | |
4 | g.95154572A>G | CA357687986 | BMPR1B | c.1498A>G (p.Met500Val) c.1408A>G (p.Met470Val) | gnomAD v4 |
4 | g.95154572A>T | CA357687988 | BMPR1B | c.1498A>T (p.Met500Leu) c.1408A>T (p.Met470Leu) | |
4 | g.95154573T>A | CA357687990 | BMPR1B | c.1499T>A (p.Met500Lys) c.1409T>A (p.Met470Lys) | |
4 | g.95154573T>C | CA357687992 | BMPR1B | c.1499T>C (p.Met500Thr) c.1409T>C (p.Met470Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.95154573T>G | CA357687993 | BMPR1B | c.1499T>G (p.Met500Arg) c.1409T>G (p.Met470Arg) | |
4 | g.95154573T= | CA1477970138 | BMPR1B | c.1499T= (p.Met500=) c.1409T= (p.Met470=) | |
4 | g.95154574G>A | CA357687994 | BMPR1B | c.1500G>A (p.Met500Ile) c.1410G>A (p.Met470Ile) | |
4 | g.95154574G>C | CA357687995 | BMPR1B | c.1500G>C (p.Met500Ile) c.1410G>C (p.Met470Ile) | |
4 | g.95154574G>T | CA357687997 | BMPR1B | c.1500G>T (p.Met500Ile) c.1410G>T (p.Met470Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
4 | g.95154575A= | CA1477970139 | BMPR1B | c.1501A= (p.Thr501=) c.1411A= (p.Thr471=) | |
4 | g.95154575A>C | CA357687999 | BMPR1B | c.1501A>C (p.Thr501Pro) c.1411A>C (p.Thr471Pro) | |
4 | g.95154575A>G | CA3015253 | BMPR1B | c.1501A>G (p.Thr501Ala) c.1411A>G (p.Thr471Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154575A>T | CA357688002 | BMPR1B | c.1501A>T (p.Thr501Ser) c.1411A>T (p.Thr471Ser) | |
4 | g.95154576C>A | CA357688006 | BMPR1B | c.1502C>A (p.Thr501Lys) c.1412C>A (p.Thr471Lys) | |
4 | g.95154576C= | CA1477970140 | BMPR1B | c.1502C= (p.Thr501=) c.1412C= (p.Thr471=) | |
4 | g.95154576C>G | CA357688008 | BMPR1B | c.1502C>G (p.Thr501Arg) c.1412C>G (p.Thr471Arg) | dbSNP |
4 | g.95154576C>T | CA357688004 | BMPR1B | c.1502C>T (p.Thr501Ile) c.1412C>T (p.Thr471Ile) | |
4 | g.95154577A>C | CA440414791 | BMPR1B | c.1503A>C (p.Thr501=) c.1413A>C (p.Thr471=) | |
4 | g.95154577A>G | CA440414792 | BMPR1B | c.1503A>G (p.Thr501=) c.1413A>G (p.Thr471=) | gnomAD v4 |
4 | g.95154577A>T | CA440414793 | BMPR1B | c.1503A>T (p.Thr501=) c.1413A>T (p.Thr471=) | |
4 | g.95154578G>A | CA357688010 | BMPR1B | c.1504G>A (p.Glu502Lys) c.1414G>A (p.Glu472Lys) | |
4 | g.95154578G>C | CA357688014 | BMPR1B | c.1504G>C (p.Glu502Gln) c.1414G>C (p.Glu472Gln) | |
4 | g.95154578G>T | CA357688012 | BMPR1B | c.1504G>T (p.Glu502Ter) c.1414G>T (p.Glu472Ter) | |
4 | g.95154579A>C | CA357688016 | BMPR1B | c.1505A>C (p.Glu502Ala) c.1415A>C (p.Glu472Ala) | |
4 | g.95154579A>G | CA357688018 | BMPR1B | c.1505A>G (p.Glu502Gly) c.1415A>G (p.Glu472Gly) | |
4 | g.95154579A>T | CA357688019 | BMPR1B | c.1505A>T (p.Glu502Val) c.1415A>T (p.Glu472Val) | |
4 | g.95154580A>C | CA357688021 | BMPR1B | c.1506A>C (p.Glu502Asp) c.1416A>C (p.Glu472Asp) | |
4 | g.95154580A>G | CA440414794 | BMPR1B | c.1506A>G (p.Glu502=) c.1416A>G (p.Glu472=) | |
4 | g.95154580A>T | CA357688024 | BMPR1B | c.1506A>T (p.Glu502Asp) c.1416A>T (p.Glu472Asp) | |
4 | g.95154581T>A | CA357688026 | BMPR1B | c.1507T>A (p.Cys503Ser) c.1417T>A (p.Cys473Ser) | |
4 | g.95154581T>C | CA357688028 | BMPR1B | c.1507T>C (p.Cys503Arg) c.1417T>C (p.Cys473Arg) | |
4 | g.95154581T>G | CA357688030 | BMPR1B | c.1507T>G (p.Cys503Gly) c.1417T>G (p.Cys473Gly) | |
4 | g.95154582G>A | CA357688032 | BMPR1B | c.1508G>A (p.Cys503Tyr) c.1418G>A (p.Cys473Tyr) | |
4 | g.95154582G>C | CA357688034 | BMPR1B | c.1508G>C (p.Cys503Ser) c.1418G>C (p.Cys473Ser) | |
4 | g.95154582G>T | CA357688036 | BMPR1B | c.1508G>T (p.Cys503Phe) c.1418G>T (p.Cys473Phe) | |
4 | g.95154583C>A | CA357688038 | BMPR1B | c.1509C>A (p.Cys503Ter) c.1419C>A (p.Cys473Ter) | |
4 | g.95154583C>G | CA357688040 | BMPR1B | c.1509C>G (p.Cys503Trp) c.1419C>G (p.Cys473Trp) | |
4 | g.95154583C>T | CA440414795 | BMPR1B | c.1509C>T (p.Cys503=) c.1419C>T (p.Cys473=) | |
4 | g.95154584T>A | CA357688041 | BMPR1B | c.1510T>A (p.Trp504Arg) c.1420T>A (p.Trp474Arg) | |
4 | g.95154584T>C | CA357688044 | BMPR1B | c.1510T>C (p.Trp504Arg) c.1420T>C (p.Trp474Arg) | |
4 | g.95154584T>G | CA357688043 | BMPR1B | c.1510T>G (p.Trp504Gly) c.1420T>G (p.Trp474Gly) | |
4 | g.95154585G>A | CA357688046 | BMPR1B | c.1511G>A (p.Trp504Ter) c.1421G>A (p.Trp474Ter) | |
4 | g.95154585G>C | CA357688048 | BMPR1B | c.1511G>C (p.Trp504Ser) c.1421G>C (p.Trp474Ser) | |
4 | g.95154585G>T | CA357688050 | BMPR1B | c.1511G>T (p.Trp504Leu) c.1421G>T (p.Trp474Leu) | |
4 | g.95154587del | CA2578148238 | BMPR1B | c.1513del (p.Ala505LeufsTer8) c.1423del (p.Ala475LeufsTer8) | |
4 | g.95154586G>A | CA357688052 | BMPR1B | c.1512G>A (p.Trp504Ter) c.1422G>A (p.Trp474Ter) | |
4 | g.95154586G>C | CA357688054 | BMPR1B | c.1512G>C (p.Trp504Cys) c.1422G>C (p.Trp474Cys) | |
4 | g.95154586G>T | CA357688056 | BMPR1B | c.1512G>T (p.Trp504Cys) c.1422G>T (p.Trp474Cys) | COSMIC COSMIC |
4 | g.95154587G>A | CA357688058 | BMPR1B | c.1513G>A (p.Ala505Thr) c.1423G>A (p.Ala475Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.95154587G>C | CA357688059 | BMPR1B | c.1513G>C (p.Ala505Pro) c.1423G>C (p.Ala475Pro) | |
4 | g.95154587G= | CA1477970141 | BMPR1B | c.1513G= (p.Ala505=) c.1423G= (p.Ala475=) | |
4 | g.95154587G>T | CA357688061 | BMPR1B | c.1513G>T (p.Ala505Ser) c.1423G>T (p.Ala475Ser) | |
4 | g.95154588C>A | CA357688066 | BMPR1B | c.1514C>A (p.Ala505Asp) c.1424C>A (p.Ala475Asp) | |
4 | g.95154588C>G | CA357688064 | BMPR1B | c.1514C>G (p.Ala505Gly) c.1424C>G (p.Ala475Gly) | |
4 | g.95154588C>T | CA357688062 | BMPR1B | c.1514C>T (p.Ala505Val) c.1424C>T (p.Ala475Val) | gnomAD v4 |
4 | g.95154589T>A | CA440414796 | BMPR1B | c.1515T>A (p.Ala505=) c.1425T>A (p.Ala475=) | |
4 | g.95154589T>C | CA440414797 | BMPR1B | c.1515T>C (p.Ala505=) c.1425T>C (p.Ala475=) | |
4 | g.95154589T>G | CA440414798 | BMPR1B | c.1515T>G (p.Ala505=) c.1425T>G (p.Ala475=) | |
4 | g.95154590C>A | CA357688068 | BMPR1B | c.1516C>A (p.His506Asn) c.1426C>A (p.His476Asn) | |
4 | g.95154590C>G | CA357688070 | BMPR1B | c.1516C>G (p.His506Asp) c.1426C>G (p.His476Asp) | |
4 | g.95154590C>T | CA357688072 | BMPR1B | c.1516C>T (p.His506Tyr) c.1426C>T (p.His476Tyr) | |
4 | g.95154591A>C | CA357688074 | BMPR1B | c.1517A>C (p.His506Pro) c.1427A>C (p.His476Pro) | |
4 | g.95154591A>G | CA357688076 | BMPR1B | c.1517A>G (p.His506Arg) c.1427A>G (p.His476Arg) | gnomAD v4 |
4 | g.95154591A>T | CA357688078 | BMPR1B | c.1517A>T (p.His506Leu) c.1427A>T (p.His476Leu) | |
4 | g.95154592C>A | CA357688079 | BMPR1B | c.1518C>A (p.His506Gln) c.1428C>A (p.His476Gln) | |
4 | g.95154592C= | CA1477970142 | BMPR1B | c.1518C= (p.His506=) c.1428C= (p.His476=) | |
4 | g.95154592C>G | CA357688081 | BMPR1B | c.1518C>G (p.His506Gln) c.1428C>G (p.His476Gln) | |
4 | g.95154592C>T | CA440414799 | BMPR1B | c.1518C>T (p.His506=) c.1428C>T (p.His476=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.95154593A>C | CA357688083 | BMPR1B | c.1519A>C (p.Asn507His) c.1429A>C (p.Asn477His) | |
4 | g.95154593A>G | CA357688084 | BMPR1B | c.1519A>G (p.Asn507Asp) c.1429A>G (p.Asn477Asp) | |
4 | g.95154593A>T | CA357688086 | BMPR1B | c.1519A>T (p.Asn507Tyr) c.1429A>T (p.Asn477Tyr) | |
4 | g.95154594A= | CA1477970143 | BMPR1B | c.1520A= (p.Asn507=) c.1430A= (p.Asn477=) | |
4 | g.95154594A>C | CA357688091 | BMPR1B | c.1520A>C (p.Asn507Thr) c.1430A>C (p.Asn477Thr) | |
4 | g.95154594A>G | CA357688088 | BMPR1B | c.1520A>G (p.Asn507Ser) c.1430A>G (p.Asn477Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.95154594A>T | CA357688087 | BMPR1B | c.1520A>T (p.Asn507Ile) c.1430A>T (p.Asn477Ile) | |
4 | g.95154595T>A | CA357688093 | BMPR1B | c.1521T>A (p.Asn507Lys) c.1431T>A (p.Asn477Lys) | |
4 | g.95154595T>C | CA440414800 | BMPR1B | c.1521T>C (p.Asn507=) c.1431T>C (p.Asn477=) | |
4 | g.95154595T>G | CA357688095 | BMPR1B | c.1521T>G (p.Asn507Lys) c.1431T>G (p.Asn477Lys) | |
4 | g.95154596C>A | CA357688097 | BMPR1B | c.1522C>A (p.Pro508Thr) c.1432C>A (p.Pro478Thr) | |
4 | g.95154596C>G | CA357688098 | BMPR1B | c.1522C>G (p.Pro508Ala) c.1432C>G (p.Pro478Ala) | |
4 | g.95154596C>T | CA357688099 | BMPR1B | c.1522C>T (p.Pro508Ser) c.1432C>T (p.Pro478Ser) | |
4 | g.95154597C>A | CA357688101 | BMPR1B | c.1523C>A (p.Pro508His) c.1433C>A (p.Pro478His) | |
4 | g.95154597C>G | CA357688103 | BMPR1B | c.1523C>G (p.Pro508Arg) c.1433C>G (p.Pro478Arg) | |
4 | g.95154597C>T | CA357688105 | BMPR1B | c.1523C>T (p.Pro508Leu) c.1433C>T (p.Pro478Leu) | |
4 | g.95154598T>A | CA3015254 | BMPR1B | c.1524T>A (p.Pro508=) c.1434T>A (p.Pro478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154598T>C | CA3015255 | BMPR1B | c.1524T>C (p.Pro508=) c.1434T>C (p.Pro478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154598T>G | CA440414801 | BMPR1B | c.1524T>G (p.Pro508=) c.1434T>G (p.Pro478=) | |
4 | g.95154598T= | CA1477970144 | BMPR1B | c.1524T= (p.Pro508=) c.1434T= (p.Pro478=) | |
4 | g.95154599G>A | CA357688109 | BMPR1B | c.1525G>A (p.Ala509Thr) c.1435G>A (p.Ala479Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154599G>C | CA357688111 | BMPR1B | c.1525G>C (p.Ala509Pro) c.1435G>C (p.Ala479Pro) | |
4 | g.95154599G= | CA1477970145 | BMPR1B | c.1525G= (p.Ala509=) c.1435G= (p.Ala479=) | |
4 | g.95154599G>T | CA3015256 | BMPR1B | c.1525G>T (p.Ala509Ser) c.1435G>T (p.Ala479Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154600C>A | CA357688116 | BMPR1B | c.1526C>A (p.Ala509Glu) c.1436C>A (p.Ala479Glu) | |
4 | g.95154600C= | CA1477970146 | BMPR1B | c.1526C= (p.Ala509=) c.1436C= (p.Ala479=) | |
4 | g.95154600C>G | CA357688118 | BMPR1B | c.1526C>G (p.Ala509Gly) c.1436C>G (p.Ala479Gly) | |
4 | g.95154600C>T | CA357688114 | BMPR1B | c.1526C>T (p.Ala509Val) c.1436C>T (p.Ala479Val) | dbSNP |
4 | g.95154601A= | CA1477970147 | BMPR1B | c.1527A= (p.Ala509=) c.1437A= (p.Ala479=) | |
4 | g.95154601A>C | CA440414802 | BMPR1B | c.1527A>C (p.Ala509=) c.1437A>C (p.Ala479=) | |
4 | g.95154601A>G | CA3015257 | BMPR1B | c.1527A>G (p.Ala509=) c.1437A>G (p.Ala479=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154601A>T | CA440414803 | BMPR1B | c.1527A>T (p.Ala509=) c.1437A>T (p.Ala479=) | |
4 | g.95154602T>A | CA357688120 | BMPR1B | c.1528T>A (p.Ser510Thr) c.1438T>A (p.Ser480Thr) | |
4 | g.95154602T>C | CA357688122 | BMPR1B | c.1528T>C (p.Ser510Pro) c.1438T>C (p.Ser480Pro) | |
4 | g.95154602T>G | CA357688123 | BMPR1B | c.1528T>G (p.Ser510Ala) c.1438T>G (p.Ser480Ala) | |
4 | g.95154603C>A | CA357688127 | BMPR1B | c.1529C>A (p.Ser510Ter) c.1439C>A (p.Ser480Ter) | |
4 | g.95154603C>G | CA357688133 | BMPR1B | c.1529C>G (p.Ser510Ter) c.1439C>G (p.Ser480Ter) | |
4 | g.95154603C>T | CA357688135 | BMPR1B | c.1529C>T (p.Ser510Leu) c.1439C>T (p.Ser480Leu) | |
4 | g.95154604A>C | CA440414804 | BMPR1B | c.1530A>C (p.Ser510=) c.1440A>C (p.Ser480=) | |
4 | g.95154604A>G | CA440414805 | BMPR1B | c.1530A>G (p.Ser510=) c.1440A>G (p.Ser480=) | gnomAD v4 |
4 | g.95154604A>T | CA440414806 | BMPR1B | c.1530A>T (p.Ser510=) c.1440A>T (p.Ser480=) | |
4 | g.95154605A>C | CA440414807 | BMPR1B | c.1531A>C (p.Arg511=) c.1441A>C (p.Arg481=) | |
4 | g.95154605A>G | CA357688138 | BMPR1B | c.1531A>G (p.Arg511Gly) c.1441A>G (p.Arg481Gly) | |
4 | g.95154605A>T | CA357688137 | BMPR1B | c.1531A>T (p.Arg511Trp) c.1441A>T (p.Arg481Trp) | |
4 | g.95154606G>A | CA357688140 | BMPR1B | c.1532G>A (p.Arg511Lys) c.1442G>A (p.Arg481Lys) | |
4 | g.95154606G>C | CA357688141 | BMPR1B | c.1532G>C (p.Arg511Thr) c.1442G>C (p.Arg481Thr) | |
4 | g.95154606G>T | CA357688142 | BMPR1B | c.1532G>T (p.Arg511Met) c.1442G>T (p.Arg481Met) | |
4 | g.95154607G>A | CA3015258 | BMPR1B | c.1533G>A (p.Arg511=) c.1443G>A (p.Arg481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154607G>C | CA357688144 | BMPR1B | c.1533G>C (p.Arg511Ser) c.1443G>C (p.Arg481Ser) | |
4 | g.95154607G= | CA1477970148 | BMPR1B | c.1533G= (p.Arg511=) c.1443G= (p.Arg481=) | |
4 | g.95154607G>T | CA357688146 | BMPR1B | c.1533G>T (p.Arg511Ser) c.1443G>T (p.Arg481Ser) | |
4 | g.95154608C>A | CA357688150 | BMPR1B | c.1534C>A (p.Leu512Met) c.1444C>A (p.Leu482Met) | |
4 | g.95154608C= | CA1477970149 | BMPR1B | c.1534C= (p.Leu512=) c.1444C= (p.Leu482=) | |
4 | g.95154608C>G | CA357688149 | BMPR1B | c.1534C>G (p.Leu512Val) c.1444C>G (p.Leu482Val) | |
4 | g.95154608C>T | CA3015259 | BMPR1B | c.1534C>T (p.Leu512=) c.1444C>T (p.Leu482=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154609T>A | CA357688151 | BMPR1B | c.1535T>A (p.Leu512Gln) c.1445T>A (p.Leu482Gln) | |
4 | g.95154609T>C | CA357688155 | BMPR1B | c.1535T>C (p.Leu512Pro) c.1445T>C (p.Leu482Pro) | |
4 | g.95154609T>G | CA357688157 | BMPR1B | c.1535T>G (p.Leu512Arg) c.1445T>G (p.Leu482Arg) | |
4 | g.95154610G>A | CA440414808 | BMPR1B | c.1536G>A (p.Leu512=) c.1446G>A (p.Leu482=) | |
4 | g.95154610G>C | CA440414809 | BMPR1B | c.1536G>C (p.Leu512=) c.1446G>C (p.Leu482=) | |
4 | g.95154610G>T | CA440414810 | BMPR1B | c.1536G>T (p.Leu512=) c.1446G>T (p.Leu482=) | gnomAD v4 |
4 | g.95154611A= | CA1477970150 | BMPR1B | c.1537A= (p.Thr513=) c.1447A= (p.Thr483=) | |
4 | g.95154611A>C | CA357688159 | BMPR1B | c.1537A>C (p.Thr513Pro) c.1447A>C (p.Thr483Pro) | |
4 | g.95154611A>G | CA357688165 | BMPR1B | c.1537A>G (p.Thr513Ala) c.1447A>G (p.Thr483Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.95154611A>T | CA357688167 | BMPR1B | c.1537A>T (p.Thr513Ser) c.1447A>T (p.Thr483Ser) | |
4 | g.95154612C>A | CA357688169 | BMPR1B | c.1538C>A (p.Thr513Lys) c.1448C>A (p.Thr483Lys) | |
4 | g.95154612C= | CA1477970151 | BMPR1B | c.1538C= (p.Thr513=) c.1448C= (p.Thr483=) | |
4 | g.95154612C>G | CA357688171 | BMPR1B | c.1538C>G (p.Thr513Arg) c.1448C>G (p.Thr483Arg) | |
4 | g.95154612C>T | CA16604631 | BMPR1B | c.1538C>T (p.Thr513Ile) c.1448C>T (p.Thr483Ile) | ClinVar dbSNP |
4 | g.95154613A= | CA1477970152 | BMPR1B | c.1539A= (p.Thr513=) c.1449A= (p.Thr483=) | |
4 | g.95154613A>C | CA440414813 | BMPR1B | c.1539A>C (p.Thr513=) c.1449A>C (p.Thr483=) | |
4 | g.95154613A>G | CA440414812 | BMPR1B | c.1539A>G (p.Thr513=) c.1449A>G (p.Thr483=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.95154613A>T | CA440414811 | BMPR1B | c.1539A>T (p.Thr513=) c.1449A>T (p.Thr483=) | |
4 | g.95154614G>A | CA357688175 | BMPR1B | c.1540G>A (p.Ala514Thr) c.1450G>A (p.Ala484Thr) | gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
4 | g.95154614G>C | CA357688177 | BMPR1B | c.1540G>C (p.Ala514Pro) c.1450G>C (p.Ala484Pro) | |
4 | g.95154614G= | CA1477970153 | BMPR1B | c.1540G= (p.Ala514=) c.1450G= (p.Ala484=) | |
4 | g.95154614G>T | CA3015260 | BMPR1B | c.1540G>T (p.Ala514Ser) c.1450G>T (p.Ala484Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.95154615C>A | CA357688181 | BMPR1B | c.1541C>A (p.Ala514Asp) c.1451C>A (p.Ala484Asp) | |
4 | g.95154615C= | CA1477970154 | BMPR1B | c.1541C= (p.Ala514=) c.1451C= (p.Ala484=) | |
4 | g.95154615C>G | CA357688185 | BMPR1B | c.1541C>G (p.Ala514Gly) c.1451C>G (p.Ala484Gly) | |
4 | g.95154615C>T | CA357688183 | BMPR1B | c.1541C>T (p.Ala514Val) c.1451C>T (p.Ala484Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.95154616C>A | CA440414816 | BMPR1B | c.1542C>A (p.Ala514=) c.1452C>A (p.Ala484=) | |
4 | g.95154616C>G | CA440414815 | BMPR1B | c.1542C>G (p.Ala514=) c.1452C>G (p.Ala484=) | |
4 | g.95154616C>T | CA440414814 | BMPR1B | c.1542C>T (p.Ala514=) c.1452C>T (p.Ala484=) | |
4 | g.95154617C>A | CA357688187 | BMPR1B | c.1543C>A (p.Leu515Met) c.1453C>A (p.Leu485Met) | |
4 | g.95154617C>G | CA357688189 | BMPR1B | c.1543C>G (p.Leu515Val) c.1453C>G (p.Leu485Val) | |
4 | g.95154617C>T | CA440414817 | BMPR1B | c.1543C>T (p.Leu515=) c.1453C>T (p.Leu485=) | dbSNP |