Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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) |