UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 4 | g.95154618T>A | CA357688191 | BMPR1B | c.1544T>A (p.Leu515Gln) c.1454T>A (p.Leu485Gln) | |
| 4 | g.95154618T>C | CA357688193 | BMPR1B | c.1544T>C (p.Leu515Pro) c.1454T>C (p.Leu485Pro) | |
| 4 | g.95154618T>G | CA357688194 | BMPR1B | c.1544T>G (p.Leu515Arg) c.1454T>G (p.Leu485Arg) | |
| 4 | g.95154619G>A | CA440414818 | BMPR1B | c.1545G>A (p.Leu515=) c.1455G>A (p.Leu485=) | |
| 4 | g.95154619G>C | CA440414820 | BMPR1B | c.1545G>C (p.Leu515=) c.1455G>C (p.Leu485=) | COSMIC COSMIC COSMIC |
| 4 | g.95154619G>T | CA440414819 | BMPR1B | c.1545G>T (p.Leu515=) c.1455G>T (p.Leu485=) | |
| 4 | g.95154620C>A | CA440414821 | BMPR1B | c.1546C>A (p.Arg516=) c.1456C>A (p.Arg486=) | gnomAD v4 |
| 4 | g.95154620C= | CA1477970155 | BMPR1B | c.1546C= (p.Arg516=) c.1456C= (p.Arg486=) | |
| 4 | g.95154620C>G | CA357688195 | BMPR1B | c.1546C>G (p.Arg516Gly) c.1456C>G (p.Arg486Gly) | |
| 4 | g.95154620C>T | CA118354 | BMPR1B | c.1546C>T (p.Arg516Trp) c.1456C>T (p.Arg486Trp) | ClinVar dbSNP |
| 4 | g.95154621G>A | CA118355 | BMPR1B | c.1547G>A (p.Arg516Gln) c.1457G>A (p.Arg486Gln) | ClinVar dbSNP gnomAD v3 COSMIC COSMIC COSMIC |
| 4 | g.95154621G>C | CA357688200 | BMPR1B | c.1547G>C (p.Arg516Pro) c.1457G>C (p.Arg486Pro) | |
| 4 | g.95154621G= | CA1477970156 | BMPR1B | c.1547G= (p.Arg516=) c.1457G= (p.Arg486=) | |
| 4 | g.95154621G>T | CA357688202 | BMPR1B | c.1547G>T (p.Arg516Leu) c.1457G>T (p.Arg486Leu) | |
| 4 | g.95154622G>A | CA440414822 | BMPR1B | c.1548G>A (p.Arg516=) c.1458G>A (p.Arg486=) | gnomAD v4 |
| 4 | g.95154622G>C | CA440414823 | BMPR1B | c.1548G>C (p.Arg516=) c.1458G>C (p.Arg486=) | |
| 4 | g.95154622G>T | CA440414824 | BMPR1B | c.1548G>T (p.Arg516=) c.1458G>T (p.Arg486=) | |
| 4 | g.95154623G>A | CA101681793 | BMPR1B | c.1549G>A (p.Val517Ile) c.1459G>A (p.Val487Ile) | dbSNP |
| 4 | g.95154623G>C | CA357688205 | BMPR1B | c.1549G>C (p.Val517Leu) c.1459G>C (p.Val487Leu) | |
| 4 | g.95154623G= | CA1477970157 | BMPR1B | c.1549G= (p.Val517=) c.1459G= (p.Val487=) | |
| 4 | g.95154623G>T | CA357688211 | BMPR1B | c.1549G>T (p.Val517Phe) c.1459G>T (p.Val487Phe) | |
| 4 | g.95154624T>A | CA357688213 | BMPR1B | c.1550T>A (p.Val517Asp) c.1460T>A (p.Val487Asp) | |
| 4 | g.95154624T>C | CA357688217 | BMPR1B | c.1550T>C (p.Val517Ala) c.1460T>C (p.Val487Ala) | |
| 4 | g.95154624T>G | CA357688215 | BMPR1B | c.1550T>G (p.Val517Gly) c.1460T>G (p.Val487Gly) | |
| 4 | g.95154625T>A | CA440414825 | BMPR1B | c.1551T>A (p.Val517=) c.1461T>A (p.Val487=) | |
| 4 | g.95154625T>C | CA440414826 | BMPR1B | c.1551T>C (p.Val517=) c.1461T>C (p.Val487=) | |
| 4 | g.95154625T>G | CA440414827 | BMPR1B | c.1551T>G (p.Val517=) c.1461T>G (p.Val487=) | |
| 4 | g.95154626A>C | CA357688220 | BMPR1B | c.1552A>C (p.Lys518Gln) c.1462A>C (p.Lys488Gln) | |
| 4 | g.95154626A>G | CA357688221 | BMPR1B | c.1552A>G (p.Lys518Glu) c.1462A>G (p.Lys488Glu) | |
| 4 | g.95154626A>T | CA357688228 | BMPR1B | c.1552A>T (p.Lys518Ter) c.1462A>T (p.Lys488Ter) | |
| 4 | g.95154627A>C | CA357688231 | BMPR1B | c.1553A>C (p.Lys518Thr) c.1463A>C (p.Lys488Thr) | |
| 4 | g.95154627A>G | CA357688233 | BMPR1B | c.1553A>G (p.Lys518Arg) c.1463A>G (p.Lys488Arg) | COSMIC COSMIC COSMIC |
| 4 | g.95154627A>T | CA357688234 | BMPR1B | c.1553A>T (p.Lys518Met) c.1463A>T (p.Lys488Met) | |
| 4 | g.95154628G>A | CA440414828 | BMPR1B | c.1554G>A (p.Lys518=) c.1464G>A (p.Lys488=) | |
| 4 | g.95154628G>C | CA357688237 | BMPR1B | c.1554G>C (p.Lys518Asn) c.1464G>C (p.Lys488Asn) | |
| 4 | g.95154628G>T | CA357688239 | BMPR1B | c.1554G>T (p.Lys518Asn) c.1464G>T (p.Lys488Asn) | |
| 4 | g.95154629A>C | CA357688240 | BMPR1B | c.1555A>C (p.Lys519Gln) c.1465A>C (p.Lys489Gln) | |
| 4 | g.95154629A>G | CA357688242 | BMPR1B | c.1555A>G (p.Lys519Glu) c.1465A>G (p.Lys489Glu) | |
| 4 | g.95154629A>T | CA357688243 | BMPR1B | c.1555A>T (p.Lys519Ter) c.1465A>T (p.Lys489Ter) | |
| 4 | g.95154630A>C | CA357688247 | BMPR1B | c.1556A>C (p.Lys519Thr) c.1466A>C (p.Lys489Thr) | |
| 4 | g.95154630A>G | CA357688248 | BMPR1B | c.1556A>G (p.Lys519Arg) c.1466A>G (p.Lys489Arg) | |
| 4 | g.95154630A>T | CA357688245 | BMPR1B | c.1556A>T (p.Lys519Ile) c.1466A>T (p.Lys489Ile) | |
| 4 | g.95154631A= | CA1477970158 | BMPR1B | c.1557A= (p.Lys519=) c.1467A= (p.Lys489=) | |
| 4 | g.95154631A>C | CA357688252 | BMPR1B | c.1557A>C (p.Lys519Asn) c.1467A>C (p.Lys489Asn) | COSMIC COSMIC COSMIC |
| 4 | g.95154631A>G | CA3015261 | BMPR1B | c.1557A>G (p.Lys519=) c.1467A>G (p.Lys489=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154631A>T | CA357688254 | BMPR1B | c.1557A>T (p.Lys519Asn) c.1467A>T (p.Lys489Asn) | |
| 4 | g.95154632A>C | CA357688257 | BMPR1B | c.1558A>C (p.Thr520Pro) c.1468A>C (p.Thr490Pro) | |
| 4 | g.95154632A>G | CA357688259 | BMPR1B | c.1558A>G (p.Thr520Ala) c.1468A>G (p.Thr490Ala) | |
| 4 | g.95154632A>T | CA357688261 | BMPR1B | c.1558A>T (p.Thr520Ser) c.1468A>T (p.Thr490Ser) | |
| 4 | g.95154633C>A | CA357688263 | BMPR1B | c.1559C>A (p.Thr520Lys) c.1469C>A (p.Thr490Lys) | |
| 4 | g.95154633C>G | CA357688264 | BMPR1B | c.1559C>G (p.Thr520Arg) c.1469C>G (p.Thr490Arg) | |
| 4 | g.95154633C>T | CA357688265 | BMPR1B | c.1559C>T (p.Thr520Ile) c.1469C>T (p.Thr490Ile) | |
| 4 | g.95154634A= | CA1477970159 | BMPR1B | c.1560A= (p.Thr520=) c.1470A= (p.Thr490=) | |
| 4 | g.95154634A>C | CA440414831 | BMPR1B | c.1560A>C (p.Thr520=) c.1470A>C (p.Thr490=) | |
| 4 | g.95154634A>G | CA440414830 | BMPR1B | c.1560A>G (p.Thr520=) c.1470A>G (p.Thr490=) | dbSNP |
| 4 | g.95154634A>T | CA440414829 | BMPR1B | c.1560A>T (p.Thr520=) c.1470A>T (p.Thr490=) | |
| 4 | g.95154635C>A | CA357688266 | BMPR1B | c.1561C>A (p.Leu521Ile) c.1471C>A (p.Leu491Ile) | |
| 4 | g.95154635C= | CA1477970160 | BMPR1B | c.1561C= (p.Leu521=) c.1471C= (p.Leu491=) | |
| 4 | g.95154635C>G | CA3015262 | BMPR1B | c.1561C>G (p.Leu521Val) c.1471C>G (p.Leu491Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154635C>T | CA357688267 | BMPR1B | c.1561C>T (p.Leu521Phe) c.1471C>T (p.Leu491Phe) | ClinVar |
| 4 | g.95154636T>A | CA357688268 | BMPR1B | c.1562T>A (p.Leu521His) c.1472T>A (p.Leu491His) | gnomAD v4 |
| 4 | g.95154636T>C | CA357688269 | BMPR1B | c.1562T>C (p.Leu521Pro) c.1472T>C (p.Leu491Pro) | |
| 4 | g.95154636T>G | CA357688270 | BMPR1B | c.1562T>G (p.Leu521Arg) c.1472T>G (p.Leu491Arg) | |
| 4 | g.95154637T>A | CA440414832 | BMPR1B | c.1563T>A (p.Leu521=) c.1473T>A (p.Leu491=) | gnomAD v4 |
| 4 | g.95154637T>C | CA440414834 | BMPR1B | c.1563T>C (p.Leu521=) c.1473T>C (p.Leu491=) | |
| 4 | g.95154637T>G | CA440414833 | BMPR1B | c.1563T>G (p.Leu521=) c.1473T>G (p.Leu491=) | |
| 4 | g.95154638G>A | CA357688273 | BMPR1B | c.1564G>A (p.Ala522Thr) c.1474G>A (p.Ala492Thr) | |
| 4 | g.95154638G>C | CA357688272 | BMPR1B | c.1564G>C (p.Ala522Pro) c.1474G>C (p.Ala492Pro) | |
| 4 | g.95154638G>T | CA357688271 | BMPR1B | c.1564G>T (p.Ala522Ser) c.1474G>T (p.Ala492Ser) | COSMIC COSMIC |
| 4 | g.95154639C>A | CA357688274 | BMPR1B | c.1565C>A (p.Ala522Asp) c.1475C>A (p.Ala492Asp) | |
| 4 | g.95154639C>G | CA357688275 | BMPR1B | c.1565C>G (p.Ala522Gly) c.1475C>G (p.Ala492Gly) | |
| 4 | g.95154639C>T | CA357688276 | BMPR1B | c.1565C>T (p.Ala522Val) c.1475C>T (p.Ala492Val) | gnomAD v4 |
| 4 | g.95154640C>A | CA440414835 | BMPR1B | c.1566C>A (p.Ala522=) c.1476C>A (p.Ala492=) | |
| 4 | g.95154640C= | CA1477970161 | BMPR1B | c.1566C= (p.Ala522=) c.1476C= (p.Ala492=) | |
| 4 | g.95154640C>G | CA440414836 | BMPR1B | c.1566C>G (p.Ala522=) c.1476C>G (p.Ala492=) | |
| 4 | g.95154640C>T | CA3015263 | BMPR1B | c.1566C>T (p.Ala522=) c.1476C>T (p.Ala492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154641A>C | CA357688277 | BMPR1B | c.1567A>C (p.Lys523Gln) c.1477A>C (p.Lys493Gln) | |
| 4 | g.95154641A>G | CA357688278 | BMPR1B | c.1567A>G (p.Lys523Glu) c.1477A>G (p.Lys493Glu) | |
| 4 | g.95154641A>T | CA357688279 | BMPR1B | c.1567A>T (p.Lys523Ter) c.1477A>T (p.Lys493Ter) | |
| 4 | g.95154642A>C | CA357688280 | BMPR1B | c.1568A>C (p.Lys523Thr) c.1478A>C (p.Lys493Thr) | |
| 4 | g.95154642A>G | CA357688281 | BMPR1B | c.1568A>G (p.Lys523Arg) c.1478A>G (p.Lys493Arg) | |
| 4 | g.95154642A>T | CA357688282 | BMPR1B | c.1568A>T (p.Lys523Ile) c.1478A>T (p.Lys493Ile) | |
| 4 | g.95154643A>C | CA357688283 | BMPR1B | c.1569A>C (p.Lys523Asn) c.1479A>C (p.Lys493Asn) | |
| 4 | g.95154643A>G | CA440414837 | BMPR1B | c.1569A>G (p.Lys523=) c.1479A>G (p.Lys493=) | |
| 4 | g.95154643A>T | CA357688284 | BMPR1B | c.1569A>T (p.Lys523Asn) c.1479A>T (p.Lys493Asn) | |
| 4 | g.95154644A>C | CA357688287 | BMPR1B | c.1570A>C (p.Met524Leu) c.1480A>C (p.Met494Leu) | |
| 4 | g.95154644A>G | CA357688286 | BMPR1B | c.1570A>G (p.Met524Val) c.1480A>G (p.Met494Val) | |
| 4 | g.95154644A>T | CA357688285 | BMPR1B | c.1570A>T (p.Met524Leu) c.1480A>T (p.Met494Leu) | |
| 4 | g.95154645T>A | CA357688288 | BMPR1B | c.1571T>A (p.Met524Lys) c.1481T>A (p.Met494Lys) | |
| 4 | g.95154645T>C | CA357688289 | BMPR1B | c.1571T>C (p.Met524Thr) c.1481T>C (p.Met494Thr) | |
| 4 | g.95154645T>G | CA357688290 | BMPR1B | c.1571T>G (p.Met524Arg) c.1481T>G (p.Met494Arg) | |
| 4 | g.95154646G>A | CA357688291 | BMPR1B | c.1572G>A (p.Met524Ile) c.1482G>A (p.Met494Ile) | gnomAD v4 |
| 4 | g.95154646G>C | CA357688292 | BMPR1B | c.1572G>C (p.Met524Ile) c.1482G>C (p.Met494Ile) | |
| 4 | g.95154646G>T | CA357688293 | BMPR1B | c.1572G>T (p.Met524Ile) c.1482G>T (p.Met494Ile) | |
| 4 | g.95154647T>A | CA357688296 | BMPR1B | c.1573T>A (p.Ser525Thr) c.1483T>A (p.Ser495Thr) | |
| 4 | g.95154647T>C | CA357688295 | BMPR1B | c.1573T>C (p.Ser525Pro) c.1483T>C (p.Ser495Pro) | |
| 4 | g.95154647T>G | CA357688294 | BMPR1B | c.1573T>G (p.Ser525Ala) c.1483T>G (p.Ser495Ala) | |
| 4 | g.95154648C>A | CA357688297 | BMPR1B | c.1574C>A (p.Ser525Ter) c.1484C>A (p.Ser495Ter) | gnomAD v4 |
| 4 | g.95154648C>G | CA357688298 | BMPR1B | c.1574C>G (p.Ser525Ter) c.1484C>G (p.Ser495Ter) | |
| 4 | g.95154648C>T | CA357688299 | BMPR1B | c.1574C>T (p.Ser525Leu) c.1484C>T (p.Ser495Leu) | |
| 4 | g.95154649A>C | CA440414838 | BMPR1B | c.1575A>C (p.Ser525=) c.1485A>C (p.Ser495=) | |
| 4 | g.95154649A>G | CA440414839 | BMPR1B | c.1575A>G (p.Ser525=) c.1485A>G (p.Ser495=) | gnomAD v4 |
| 4 | g.95154649A>T | CA440414840 | BMPR1B | c.1575A>T (p.Ser525=) c.1485A>T (p.Ser495=) | |
| 4 | g.95154650G>A | CA357688300 | BMPR1B | c.1576G>A (p.Glu526Lys) c.1486G>A (p.Glu496Lys) | |
| 4 | g.95154650G>C | CA357688301 | BMPR1B | c.1576G>C (p.Glu526Gln) c.1486G>C (p.Glu496Gln) | |
| 4 | g.95154650G>T | CA357688302 | BMPR1B | c.1576G>T (p.Glu526Ter) c.1486G>T (p.Glu496Ter) | |
| 4 | g.95154651A>C | CA357688303 | BMPR1B | c.1577A>C (p.Glu526Ala) c.1487A>C (p.Glu496Ala) | |
| 4 | g.95154651A>G | CA357688305 | BMPR1B | c.1577A>G (p.Glu526Gly) c.1487A>G (p.Glu496Gly) | |
| 4 | g.95154651A>T | CA357688304 | BMPR1B | c.1577A>T (p.Glu526Val) c.1487A>T (p.Glu496Val) | |
| 4 | g.95154652G>A | CA440414841 | BMPR1B | c.1578G>A (p.Glu526=) c.1488G>A (p.Glu496=) | gnomAD v4 |
| 4 | g.95154652G>C | CA357688306 | BMPR1B | c.1578G>C (p.Glu526Asp) c.1488G>C (p.Glu496Asp) | |
| 4 | g.95154652G>T | CA357688307 | BMPR1B | c.1578G>T (p.Glu526Asp) c.1488G>T (p.Glu496Asp) | |
| 4 | g.95154653T>A | CA357688308 | BMPR1B | c.1579T>A (p.Ser527Thr) c.1489T>A (p.Ser497Thr) | |
| 4 | g.95154653T>C | CA357688309 | BMPR1B | c.1579T>C (p.Ser527Pro) c.1489T>C (p.Ser497Pro) | |
| 4 | g.95154653T>G | CA357688310 | BMPR1B | c.1579T>G (p.Ser527Ala) c.1489T>G (p.Ser497Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95154653T= | CA1477970162 | BMPR1B | c.1579T= (p.Ser527=) c.1489T= (p.Ser497=) | |
| 4 | g.95154654C>A | CA357688311 | BMPR1B | c.1580C>A (p.Ser527Tyr) c.1490C>A (p.Ser497Tyr) | |
| 4 | g.95154654C>G | CA357688312 | BMPR1B | c.1580C>G (p.Ser527Cys) c.1490C>G (p.Ser497Cys) | |
| 4 | g.95154654C>T | CA357688313 | BMPR1B | c.1580C>T (p.Ser527Phe) c.1490C>T (p.Ser497Phe) | |
| 4 | g.95154655C>A | CA440414842 | BMPR1B | c.1581C>A (p.Ser527=) c.1491C>A (p.Ser497=) | |
| 4 | g.95154655C>G | CA440414843 | BMPR1B | c.1581C>G (p.Ser527=) c.1491C>G (p.Ser497=) | gnomAD v4 |
| 4 | g.95154655C>T | CA440414844 | BMPR1B | c.1581C>T (p.Ser527=) c.1491C>T (p.Ser497=) | |
| 4 | g.95154656C>A | CA357688314 | BMPR1B | c.1582C>A (p.Gln528Lys) c.1492C>A (p.Gln498Lys) | |
| 4 | g.95154656C= | CA1477970163 | BMPR1B | c.1582C= (p.Gln528=) c.1492C= (p.Gln498=) | |
| 4 | g.95154656C>G | CA357688315 | BMPR1B | c.1582C>G (p.Gln528Glu) c.1492C>G (p.Gln498Glu) | |
| 4 | g.95154656C>T | CA357688316 | BMPR1B | c.1582C>T (p.Gln528Ter) c.1492C>T (p.Gln498Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95154657A= | CA1477970164 | BMPR1B | c.1583A= (p.Gln528=) c.1493A= (p.Gln498=) | |
| 4 | g.95154657A>C | CA357688317 | BMPR1B | c.1583A>C (p.Gln528Pro) c.1493A>C (p.Gln498Pro) | |
| 4 | g.95154657A>G | CA3015264 | BMPR1B | c.1583A>G (p.Gln528Arg) c.1493A>G (p.Gln498Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154657A>T | CA357688318 | BMPR1B | c.1583A>T (p.Gln528Leu) c.1493A>T (p.Gln498Leu) | |
| 4 | g.95154658G>A | CA440414845 | BMPR1B | c.1584G>A (p.Gln528=) c.1494G>A (p.Gln498=) | |
| 4 | g.95154658G>C | CA357688319 | BMPR1B | c.1584G>C (p.Gln528His) c.1494G>C (p.Gln498His) | |
| 4 | g.95154658G>T | CA357688320 | BMPR1B | c.1584G>T (p.Gln528His) c.1494G>T (p.Gln498His) | |
| 4 | g.95154659G>A | CA357688321 | BMPR1B | c.1585G>A (p.Asp529Asn) c.1495G>A (p.Asp499Asn) | gnomAD v4 |
| 4 | g.95154659G>C | CA357688323 | BMPR1B | c.1585G>C (p.Asp529His) c.1495G>C (p.Asp499His) | |
| 4 | g.95154659G>T | CA357688322 | BMPR1B | c.1585G>T (p.Asp529Tyr) c.1495G>T (p.Asp499Tyr) | |
| 4 | g.95154660A>C | CA357688324 | BMPR1B | c.1586A>C (p.Asp529Ala) c.1496A>C (p.Asp499Ala) | |
| 4 | g.95154660A>G | CA357688326 | BMPR1B | c.1586A>G (p.Asp529Gly) c.1496A>G (p.Asp499Gly) | |
| 4 | g.95154660A>T | CA357688325 | BMPR1B | c.1586A>T (p.Asp529Val) c.1496A>T (p.Asp499Val) | |
| 4 | g.95154661C>A | CA357688327 | BMPR1B | c.1587C>A (p.Asp529Glu) c.1497C>A (p.Asp499Glu) | |
| 4 | g.95154661C= | CA1477970165 | BMPR1B | c.1587C= (p.Asp529=) c.1497C= (p.Asp499=) | |
| 4 | g.95154661C>G | CA357688328 | BMPR1B | c.1587C>G (p.Asp529Glu) c.1497C>G (p.Asp499Glu) | |
| 4 | g.95154661C>T | CA440414846 | BMPR1B | c.1587C>T (p.Asp529=) c.1497C>T (p.Asp499=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95154662A= | CA1477970166 | BMPR1B | c.1588A= (p.Ile530=) c.1498A= (p.Ile500=) | |
| 4 | g.95154662A>C | CA357688329 | BMPR1B | c.1588A>C (p.Ile530Leu) c.1498A>C (p.Ile500Leu) | |
| 4 | g.95154662A>G | CA357688330 | BMPR1B | c.1588A>G (p.Ile530Val) c.1498A>G (p.Ile500Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95154662A>T | CA357688331 | BMPR1B | c.1588A>T (p.Ile530Phe) c.1498A>T (p.Ile500Phe) | |
| 4 | g.95154663T>A | CA357688332 | BMPR1B | c.1589T>A (p.Ile530Asn) c.1499T>A (p.Ile500Asn) | |
| 4 | g.95154663T>C | CA3015265 | BMPR1B | c.1589T>C (p.Ile530Thr) c.1499T>C (p.Ile500Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154663T>G | CA357688333 | BMPR1B | c.1589T>G (p.Ile530Ser) c.1499T>G (p.Ile500Ser) | |
| 4 | g.95154663T= | CA1477970167 | BMPR1B | c.1589T= (p.Ile530=) c.1499T= (p.Ile500=) | |
| 4 | g.95154664dup | CA2578148249 | BMPR1B | c.1590dup (p.Lys531Ter) c.1500dup (p.Lys501Ter) | |
| 4 | g.95154664T>A | CA440414847 | BMPR1B | c.1590T>A (p.Ile530=) c.1500T>A (p.Ile500=) | dbSNP |
| 4 | g.95154664T>C | CA440414848 | BMPR1B | c.1590T>C (p.Ile530=) c.1500T>C (p.Ile500=) | |
| 4 | g.95154664T>G | CA357688334 | BMPR1B | c.1590T>G (p.Ile530Met) c.1500T>G (p.Ile500Met) | gnomAD v4 |
| 4 | g.95154664T= | CA1477970168 | BMPR1B | c.1590T= (p.Ile530=) c.1500T= (p.Ile500=) | |
| 4 | g.95154665A= | CA1477970169 | BMPR1B | c.1591A= (p.Lys531=) c.1501A= (p.Lys501=) | |
| 4 | g.95154665A>C | CA357688335 | BMPR1B | c.1591A>C (p.Lys531Gln) c.1501A>C (p.Lys501Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154665A>G | CA357688336 | BMPR1B | c.1591A>G (p.Lys531Glu) c.1501A>G (p.Lys501Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 4 | g.95154665A>T | CA357688337 | BMPR1B | c.1591A>T (p.Lys531Ter) c.1501A>T (p.Lys501Ter) | |
| 4 | g.95154666A= | CA1477970170 | BMPR1B | c.1592A= (p.Lys531=) c.1502A= (p.Lys501=) | |
| 4 | g.95154666A>C | CA3015266 | BMPR1B | c.1592A>C (p.Lys531Thr) c.1502A>C (p.Lys501Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154666A>G | CA357688338 | BMPR1B | c.1592A>G (p.Lys531Arg) c.1502A>G (p.Lys501Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154666A>T | CA357688339 | BMPR1B | c.1592A>T (p.Lys531Ile) c.1502A>T (p.Lys501Ile) | |
| 4 | g.95154667A>C | CA357688340 | BMPR1B | c.1593A>C (p.Lys531Asn) c.1503A>C (p.Lys501Asn) | |
| 4 | g.95154667A>G | CA440414849 | BMPR1B | c.1593A>G (p.Lys531=) c.1503A>G (p.Lys501=) | |
| 4 | g.95154667A>T | CA357688341 | BMPR1B | c.1593A>T (p.Lys531Asn) c.1503A>T (p.Lys501Asn) | gnomAD v4 |
| 4 | g.95154667_95154669delinsACT | CA1477970171 | BMPR1B | c.1593_1595delinsACT (p.Lys531=) c.1503_1505delinsACT (p.Lys501=) | |
| 4 | g.95154668C>A | CA357688342 | BMPR1B | c.1594C>A (p.Leu532Ile) c.1504C>A (p.Leu502Ile) | |
| 4 | g.95154668C>G | CA357688343 | BMPR1B | c.1594C>G (p.Leu532Val) c.1504C>G (p.Leu502Val) | |
| 4 | g.95154668C>T | CA357688344 | BMPR1B | c.1594C>T (p.Leu532Phe) c.1504C>T (p.Leu502Phe) | gnomAD v4 |
| 4 | g.95154670_95154671del | CA800318049 | BMPR1B | c.1596_1597del (p.Ter533IleextTer6) c.1506_1507del (p.Ter503IleextTer18) c.1506_1507del (p.Ter503IleextTer6) c.1506_1507del (p.Leu502=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154669T>A | CA357688345 | BMPR1B | c.1595T>A (p.Leu532His) c.1505T>A (p.Leu502His) | |
| 4 | g.95154669T>C | CA357688346 | BMPR1B | c.1595T>C (p.Leu532Pro) c.1505T>C (p.Leu502Pro) | gnomAD v4 |
| 4 | g.95154669T>G | CA357688347 | BMPR1B | c.1595T>G (p.Leu532Arg) c.1505T>G (p.Leu502Arg) | |
| 4 | g.95154670C>A | CA440414850 | BMPR1B | c.1596C>A (p.Leu532=) c.1506C>A (p.Leu502=) | |
| 4 | g.95154670C= | CA1477970172 | BMPR1B | c.1596C= (p.Leu532=) c.1506C= (p.Leu502=) | |
| 4 | g.95154670C>G | CA440414851 | BMPR1B | c.1596C>G (p.Leu532=) c.1506C>G (p.Leu502=) | |
| 4 | g.95154670C>T | CA440414852 | BMPR1B | c.1596C>T (p.Leu532=) c.1506C>T (p.Leu502=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154671T>A | CA357688348 | BMPR1B | c.1597T>A (p.Ter533Arg) c.1507T>A (p.Ter503Arg) | |
| 4 | g.95154671T>C | CA357688349 | BMPR1B | c.1597T>C (p.Ter533Arg) c.1507T>C (p.Ter503Arg) | |
| 4 | g.95154671T>G | CA357688350 | BMPR1B | c.1597T>G (p.Ter533Gly) c.1507T>G (p.Ter503Gly) | |
| 4 | g.95154671_95154672del | CA2671465620 | BMPR1B | c.1597_1598del (p.Ter533IleextTer6) c.1507_1508del (p.Ter503IleextTer18) c.1507_1508del (p.Ter503IleextTer6) c.1507_1508del (p.Ter503=) | gnomAD v4 |
| 4 | g.95154672G>A | CA440414853 | BMPR1B | c.1598G>A (p.Ter533=) c.1508G>A (p.Ter503=) | |
| 4 | g.95154672G>C | CA357688351 | BMPR1B | c.1598G>C (p.Ter533Ser) c.1508G>C (p.Ter503Ser) | |
| 4 | g.95154672G>T | CA357688352 | BMPR1B | c.1598G>T (p.Ter533Leu) c.1508G>T (p.Ter503Leu) | |
| 4 | g.95154673A>C | CA357688355 | BMPR1B | c.1599A>C (p.Ter533Cys) c.1509A>C (p.Ter503Cys) | |
| 4 | g.95154673A>G | CA357688354 | BMPR1B | c.1599A>G (p.Ter533Trp) c.1509A>G (p.Ter503Trp) | |
| 4 | g.95154673A>T | CA357688353 | BMPR1B | c.1599A>T (p.Ter533Cys) c.1509A>T (p.Ter503Cys) | |
| 4 | g.95154674_95154679delinsTAGGAG | CA1477970173 | BMPR1B | c.*1_*6delinsTAGGAG (n.*1_*6delinsTAGGAG) | |
| 4 | g.95154679_95154683del | CA1477970174 | BMPR1B | c.*6_*10del (n.*6_*10del) | dbSNP |
| 4 | g.95154677G>A | CA1477970176 | BMPR1B | c.*4G>A (n.*4G>A) | dbSNP gnomAD v4 |
| 4 | g.95154677G= | CA1477970175 | BMPR1B | c.*4G= (n.*4G=) | |
| 4 | g.95154677G>T | CA2762706570 | BMPR1B | c.*4G>T (n.*4G>T) | |
| 4 | g.95154680A= | CA1477970177 | BMPR1B | c.*7A= (n.*7A=) | |
| 4 | g.95154680A>G | CA3015267 | BMPR1B | c.*7A>G (n.*7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154681G>A | CA2671465621 | BMPR1B | c.*8G>A (n.*8G>A) | gnomAD v4 |
| 4 | g.95154682G>A | CA1477970179 | BMPR1B | c.*9G>A (n.*9G>A) | dbSNP gnomAD v4 |
| 4 | g.95154682G>C | CA3015268 | BMPR1B | c.*9G>C (n.*9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154682G= | CA1477970178 | BMPR1B | c.*9G= (n.*9G=) | |
| 4 | g.95154682G>T | CA2581399910 | BMPR1B | c.*9G>T (n.*9G>T) | |
| 4 | g.95154683_95154686del | CA2671465622 | BMPR1B | c.*10_*13del (n.*10_*13del) | gnomAD v4 |
| 4 | g.95154684A= | CA1477970180 | BMPR1B | c.*11A= (n.*11A=) | |
| 4 | g.95154684A>T | CA553213869 | BMPR1B | c.*11A>T (n.*11A>T) | dbSNP gnomAD v2 |
| 4 | g.95154685A= | CA1477970182 | BMPR1B | c.*12A= (n.*12A=) | |
| 4 | g.95154685A>G | CA1477970181 | BMPR1B | c.*12A>G (n.*12A>G) | dbSNP gnomAD v4 |
| 4 | g.95154686A= | CA1477970183 | BMPR1B | c.*13A= (n.*13A=) | |
| 4 | g.95154686A>C | CA3015269 | BMPR1B | c.*13A>C (n.*13A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154688T>C | CA1065630736 | BMPR1B | c.*15T>C (n.*15T>C) c.*13+2T>C (n.*13+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154688T= | CA1477970184 | BMPR1B | c.*15T= (n.*15T=) c.*13+2T= (n.*13+2T=) | |
| 4 | g.95154690del | CA2762706571 | BMPR1B | c.*17del (n.*17del) c.*13+4del (n.*13+4del) | |
| 4 | g.95154691G>A | CA3015270 | BMPR1B | c.*18G>A (n.*18G>A) c.*13+5G>A (n.*13+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154691G= | CA1477970185 | BMPR1B | c.*18G= (n.*18G=) c.*13+5G= (n.*13+5G=) | |
| 4 | g.95154692C= | CA1477970186 | BMPR1B | c.*19C= (n.*19C=) c.*13+6C= (n.*13+6C=) | |
| 4 | g.95154692C>T | CA3015271 | BMPR1B | c.*19C>T (n.*19C>T) c.*13+6C>T (n.*13+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154693A>G | CA2706805621 | BMPR1B | c.*20A>G (n.*20A>G) c.*13+7A>G (n.*13+7A>G) | dbSNP |
| 4 | g.95154697_95154698del | CA2671465623 | BMPR1B | c.*24_*25del (n.*24_*25del) c.*13+11_*13+12del (n.*13+11_*13+12del) | gnomAD v4 |
| 4 | g.95154695C>A | CA800318065 | BMPR1B | c.*22C>A (n.*22C>A) c.*13+9C>A (n.*13+9C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154695C= | CA1477970187 | BMPR1B | c.*22C= (n.*22C=) c.*13+9C= (n.*13+9C=) | |
| 4 | g.95154697C>T | CA2762706572 | BMPR1B | c.*24C>T (n.*24C>T) c.*13+11C>T (n.*13+11C>T) | |
| 4 | g.95154698T>C | CA2671465624 | BMPR1B | c.*25T>C (n.*25T>C) c.*13+12T>C (n.*13+12T>C) | gnomAD v4 |
| 4 | g.95154699G>A | CA1065630741 | BMPR1B | c.*26G>A (n.*26G>A) c.*13+13G>A (n.*13+13G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154699G= | CA1477970188 | BMPR1B | c.*26G= (n.*26G=) c.*13+13G= (n.*13+13G=) | |
| 4 | g.95154699G>T | CA553213876 | BMPR1B | c.*26G>T (n.*26G>T) c.*13+13G>T (n.*13+13G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154700del | CA2671465625 | BMPR1B | c.*27del (n.*27del) c.*13+14del (n.*13+14del) | gnomAD v4 |
| 4 | g.95154700C>T | CA2671465626 | BMPR1B | c.*27C>T (n.*27C>T) c.*13+14C>T (n.*13+14C>T) | gnomAD v4 |
| 4 | g.95154700_95154702delinsCAG | CA1477970189 | BMPR1B | c.*27_*29delinsCAG (n.*27_*29delinsCAG) c.*13+14_*13+16delinsCAG (n.*13+14_*13+16delinsCAG) | |
| 4 | g.95154702_95154703del | CA3015272 | BMPR1B | c.*29_*30del (n.*29_*30del) c.*13+16_*13+17del (n.*13+16_*13+17del) | dbSNP ExAC |
| 4 | g.95154704A>C | CA2671465627 | BMPR1B | c.*31A>C (n.*31A>C) c.*13+18A>C (n.*13+18A>C) | gnomAD v4 |
| 4 | g.95154705A= | CA1477970190 | BMPR1B | c.*32A= (n.*32A=) c.*13+19A= (n.*13+19A=) | |
| 4 | g.95154705A>G | CA3015273 | BMPR1B | c.*32A>G (n.*32A>G) c.*13+19A>G (n.*13+19A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 4 | g.95154706G= | CA1477970191 | BMPR1B | c.*33G= (n.*33G=) c.*13+20G= (n.*13+20G=) | |
| 4 | g.95154706G>T | CA553213878 | BMPR1B | c.*33G>T (n.*33G>T) c.*13+20G>T (n.*13+20G>T) | dbSNP gnomAD v2 |
| 4 | g.95154709A>G | CA2671465628 | BMPR1B | c.*36A>G (n.*36A>G) c.*13+23A>G (n.*13+23A>G) | gnomAD v4 |
| 4 | g.95154709_95154710insG | CA2671465629 | BMPR1B | c.*36_*37insG (n.*36_*37insG) c.*13+23_*13+24insG (n.*13+23_*13+24insG) | gnomAD v4 |
| 4 | g.95154710A= | CA1477970192 | BMPR1B | c.*37A= (n.*37A=) c.*13+24A= (n.*13+24A=) | |
| 4 | g.95154710A>C | CA2671465630 | BMPR1B | c.*37A>C (n.*37A>C) c.*13+24A>C (n.*13+24A>C) | gnomAD v4 |
| 4 | g.95154710A>G | CA3015274 | BMPR1B | c.*37A>G (n.*37A>G) c.*13+24A>G (n.*13+24A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154710A>T | CA3015275 | BMPR1B | c.*37A>T (n.*37A>T) c.*13+24A>T (n.*13+24A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154711C>A | CA3015276 | BMPR1B | c.*38C>A (n.*38C>A) c.*13+25C>A (n.*13+25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154711C= | CA1477970193 | BMPR1B | c.*38C= (n.*38C=) c.*13+25C= (n.*13+25C=) | |
| 4 | g.95154711C>T | CA1065630749 | BMPR1B | c.*38C>T (n.*38C>T) c.*13+25C>T (n.*13+25C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154711_95154717del | CA2671465631 | BMPR1B | c.*38_*44del (n.*38_*44del) c.*13+25_*13+31del (n.*13+25_*13+31del) | gnomAD v4 |
| 4 | g.95154712A= | CA1477970194 | BMPR1B | c.*39A= (n.*39A=) c.*13+26A= (n.*13+26A=) | |
| 4 | g.95154712A>G | CA101681814 | BMPR1B | c.*39A>G (n.*39A>G) c.*13+26A>G (n.*13+26A>G) | dbSNP |
| 4 | g.95154712dup | CA3015277 | BMPR1B | c.*39dup (n.*39dup) c.*13+26dup (n.*13+26dup) | dbSNP ExAC gnomAD v2 |
| 4 | g.95154713G>A | CA1477970196 | BMPR1B | c.*40G>A (n.*40G>A) c.*13+27G>A (n.*13+27G>A) | dbSNP gnomAD v4 |
| 4 | g.95154713G= | CA1477970195 | BMPR1B | c.*40G= (n.*40G=) c.*13+27G= (n.*13+27G=) | |
| 4 | g.95154714G>A | CA553213885 | BMPR1B | c.*41G>A (n.*41G>A) c.*13+28G>A (n.*13+28G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154714G>C | CA1477970198 | BMPR1B | c.*41G>C (n.*41G>C) c.*13+28G>C (n.*13+28G>C) | dbSNP gnomAD v4 |
| 4 | g.95154714G= | CA1477970197 | BMPR1B | c.*41G= (n.*41G=) c.*13+28G= (n.*13+28G=) | |
| 4 | g.95154715T>A | CA553213886 | BMPR1B | c.*42T>A (n.*42T>A) c.*13+29T>A (n.*13+29T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.95154715T>C | CA3015279 | BMPR1B | c.*42T>C (n.*42T>C) c.*13+29T>C (n.*13+29T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.95154715T= | CA1477970199 | BMPR1B | c.*42T= (n.*42T=) c.*13+29T= (n.*13+29T=) | |
| 4 | g.95154715_95154716insG | CA3015278 | BMPR1B | c.*42_*43insG (n.*42_*43insG) c.*13+29_*13+30insG (n.*13+29_*13+30insG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.95154716A= | CA1477970200 | BMPR1B | c.*43A= (n.*43A=) c.*13+30A= (n.*13+30A=) | |
| 4 | g.95154716A>G | CA1065630759 | BMPR1B | c.*43A>G (n.*43A>G) c.*13+30A>G (n.*13+30A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.95154717C= | CA1477970201 | BMPR1B | c.*44C= (n.*44C=) c.*13+31C= (n.*13+31C=) | |
| 4 | g.95154717C>T | CA101681825 | BMPR1B | c.*44C>T (n.*44C>T) c.*13+31C>T (n.*13+31C>T) | dbSNP |