Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202530818A= | CA1321544897 | BMPR2 | c.992A= (p.His331=) c.923A= (p.His308=) | |
2 | g.202530818A>C | CA350341321 | BMPR2 | c.992A>C (p.His331Pro) c.923A>C (p.His308Pro) | |
2 | g.202530818A>G | CA350341322 | BMPR2 | c.992A>G (p.His331Arg) c.923A>G (p.His308Arg) | ClinVar dbSNP |
2 | g.202530818A>T | CA350341323 | BMPR2 | c.992A>T (p.His331Leu) c.923A>T (p.His308Leu) | |
2 | g.202530819T>A | CA350341325 | BMPR2 | c.993T>A (p.His331Gln) c.924T>A (p.His308Gln) | |
2 | g.202530819T>C | CA430847348 | BMPR2 | c.993T>C (p.His331=) c.924T>C (p.His308=) | gnomAD v4 |
2 | g.202530819T>G | CA350341324 | BMPR2 | c.993T>G (p.His331Gln) c.924T>G (p.His308Gln) | |
2 | g.202530820C>A | CA430847350 | BMPR2 | c.994C>A (p.Arg332=) c.925C>A (p.Arg309=) | |
2 | g.202530820C= | CA1321544898 | BMPR2 | c.994C= (p.Arg332=) c.925C= (p.Arg309=) | |
2 | g.202530820C>G | CA350341326 | BMPR2 | c.994C>G (p.Arg332Gly) c.925C>G (p.Arg309Gly) | |
2 | g.202530820C>T | CA278095 | BMPR2 | c.994C>T (p.Arg332Ter) c.925C>T (p.Arg309Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.202530821G>A | CA350341327 | BMPR2 | c.995G>A (p.Arg332Gln) c.926G>A (p.Arg309Gln) | |
2 | g.202530821G>C | CA350341328 | BMPR2 | c.995G>C (p.Arg332Pro) c.926G>C (p.Arg309Pro) | ClinVar dbSNP |
2 | g.202530821G>T | CA350341329 | BMPR2 | c.995G>T (p.Arg332Leu) c.926G>T (p.Arg309Leu) | |
2 | g.202530822A>C | CA430847360 | BMPR2 | c.996A>C (p.Arg332=) c.927A>C (p.Arg309=) | |
2 | g.202530822A>G | CA430847363 | BMPR2 | c.996A>G (p.Arg332=) c.927A>G (p.Arg309=) | |
2 | g.202530822A>T | CA430847366 | BMPR2 | c.996A>T (p.Arg332=) c.927A>T (p.Arg309=) | |
2 | g.202530823G>A | CA350341330 | BMPR2 | c.997G>A (p.Asp333Asn) c.928G>A (p.Asp310Asn) | |
2 | g.202530823G>C | CA350341331 | BMPR2 | c.997G>C (p.Asp333His) c.928G>C (p.Asp310His) | |
2 | g.202530823G>T | CA350341332 | BMPR2 | c.997G>T (p.Asp333Tyr) c.928G>T (p.Asp310Tyr) | |
2 | g.202530824A>C | CA350341333 | BMPR2 | c.998A>C (p.Asp333Ala) c.929A>C (p.Asp310Ala) | |
2 | g.202530824A>G | CA350341334 | BMPR2 | c.998A>G (p.Asp333Gly) c.929A>G (p.Asp310Gly) | |
2 | g.202530824A>T | CA350341335 | BMPR2 | c.998A>T (p.Asp333Val) c.929A>T (p.Asp310Val) | |
2 | g.202530825T>A | CA350341336 | BMPR2 | c.999T>A (p.Asp333Glu) c.930T>A (p.Asp310Glu) | |
2 | g.202530825T>C | CA430847377 | BMPR2 | c.999T>C (p.Asp333=) c.930T>C (p.Asp310=) | |
2 | g.202530825T>G | CA350341337 | BMPR2 | c.999T>G (p.Asp333Glu) c.930T>G (p.Asp310Glu) | |
2 | g.202530826T>A | CA350341339 | BMPR2 | c.1000T>A (p.Leu334Ile) c.931T>A (p.Leu311Ile) | gnomAD v4 |
2 | g.202530826T>C | CA430847380 | BMPR2 | c.1000T>C (p.Leu334=) c.931T>C (p.Leu311=) | |
2 | g.202530826T>G | CA350341338 | BMPR2 | c.1000T>G (p.Leu334Val) c.931T>G (p.Leu311Val) | |
2 | g.202530827T>A | CA350341340 | BMPR2 | c.1001T>A (p.Leu334Ter) c.932T>A (p.Leu311Ter) | |
2 | g.202530827T>C | CA350341341 | BMPR2 | c.1001T>C (p.Leu334Ser) c.932T>C (p.Leu311Ser) | |
2 | g.202530827T>G | CA350341342 | BMPR2 | c.1001T>G (p.Leu334Ter) c.932T>G (p.Leu311Ter) | ClinVar dbSNP |
2 | g.202530827T= | CA1321544899 | BMPR2 | c.1001T= (p.Leu334=) c.932T= (p.Leu311=) | |
2 | g.202530828A>C | CA350341343 | BMPR2 | c.1002A>C (p.Leu334Phe) c.933A>C (p.Leu311Phe) | |
2 | g.202530828A>G | CA430847393 | BMPR2 | c.1002A>G (p.Leu334=) c.933A>G (p.Leu311=) | |
2 | g.202530828A>T | CA350341344 | BMPR2 | c.1002A>T (p.Leu334Phe) c.933A>T (p.Leu311Phe) | |
2 | g.202530829A>C | CA350341345 | BMPR2 | c.1003A>C (p.Asn335His) c.934A>C (p.Asn312His) | |
2 | g.202530829A>G | CA350341346 | BMPR2 | c.1003A>G (p.Asn335Asp) c.934A>G (p.Asn312Asp) | |
2 | g.202530829A>T | CA350341347 | BMPR2 | c.1003A>T (p.Asn335Tyr) c.934A>T (p.Asn312Tyr) | |
2 | g.202530830A= | CA1321544900 | BMPR2 | c.1004A= (p.Asn335=) c.935A= (p.Asn312=) | |
2 | g.202530830A>C | CA350341348 | BMPR2 | c.1004A>C (p.Asn335Thr) c.935A>C (p.Asn312Thr) | |
2 | g.202530830A>G | CA64023320 | BMPR2 | c.1004A>G (p.Asn335Ser) c.935A>G (p.Asn312Ser) | dbSNP gnomAD v4 |
2 | g.202530830A>T | CA350341349 | BMPR2 | c.1004A>T (p.Asn335Ile) c.935A>T (p.Asn312Ile) | |
2 | g.202530831C>A | CA350341350 | BMPR2 | c.1005C>A (p.Asn335Lys) c.936C>A (p.Asn312Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.202530831C= | CA1321544901 | BMPR2 | c.1005C= (p.Asn335=) c.936C= (p.Asn312=) | |
2 | g.202530831C>G | CA350341351 | BMPR2 | c.1005C>G (p.Asn335Lys) c.936C>G (p.Asn312Lys) | |
2 | g.202530831C>T | CA430847416 | BMPR2 | c.1005C>T (p.Asn335=) c.936C>T (p.Asn312=) | gnomAD v4 |
2 | g.202530832A= | CA1321544902 | BMPR2 | c.1006A= (p.Ser336=) c.937A= (p.Ser313=) | |
2 | g.202530832A>C | CA350341352 | BMPR2 | c.1006A>C (p.Ser336Arg) c.937A>C (p.Ser313Arg) | |
2 | g.202530832A>G | CA2061273 | BMPR2 | c.1006A>G (p.Ser336Gly) c.937A>G (p.Ser313Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |