Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202461237_202467808del | CA915941492 | BMPR2 | c.77-3572_418+119del | ClinVar |
2 | g.202462494_202466873del | CA915941493 | BMPR2 | c.77-2315_248-646del | ClinVar |
2 | g.202464820C>A | CA350398987 | BMPR2 | c.88C>A (p.Gln30Lys) c.13C>A (p.Gln5Lys) | gnomAD v4 |
2 | g.202464820C= | CA1321507484 | BMPR2 | c.88C= (p.Gln30=) c.13C= (p.Gln5=) | |
2 | g.202464820C>G | CA350398989 | BMPR2 | c.88C>G (p.Gln30Glu) c.13C>G (p.Gln5Glu) | |
2 | g.202464820C>T | CA350398991 | BMPR2 | c.88C>T (p.Gln30Ter) c.13C>T (p.Gln5Ter) | ClinVar dbSNP |
2 | g.202464821A= | CA1321507488 | BMPR2 | c.89A= (p.Gln30=) c.14A= (p.Gln5=) | |
2 | g.202464821A>C | CA350398993 | BMPR2 | c.89A>C (p.Gln30Pro) c.14A>C (p.Gln5Pro) | gnomAD v4 |
2 | g.202464821A>G | CA2061035 | BMPR2 | c.89A>G (p.Gln30Arg) c.14A>G (p.Gln5Arg) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.202464821A>T | CA350398996 | BMPR2 | c.89A>T (p.Gln30Leu) c.14A>T (p.Gln5Leu) | |
2 | g.202464822A>C | CA350398998 | BMPR2 | c.90A>C (p.Gln30His) c.15A>C (p.Gln5His) | |
2 | g.202464822A>G | CA430903570 | BMPR2 | c.90A>G (p.Gln30=) c.15A>G (p.Gln5=) | |
2 | g.202464822A>T | CA350398999 | BMPR2 | c.90A>T (p.Gln30His) c.15A>T (p.Gln5His) | gnomAD v4 |
2 | g.202464823G>A | CA350399001 | BMPR2 | c.91G>A (p.Glu31Lys) c.16G>A (p.Glu6Lys) | dbSNP gnomAD v4 |
2 | g.202464823G>C | CA350399003 | BMPR2 | c.91G>C (p.Glu31Gln) c.16G>C (p.Glu6Gln) | |
2 | g.202464823G= | CA1321507494 | BMPR2 | c.91G= (p.Glu31=) c.16G= (p.Glu6=) | |
2 | g.202464823G>T | CA350399005 | BMPR2 | c.91G>T (p.Glu31Ter) c.16G>T (p.Glu6Ter) | ClinVar dbSNP |
2 | g.202464824A= | CA1321507501 | BMPR2 | c.92A= (p.Glu31=) c.17A= (p.Glu6=) | |
2 | g.202464824A>C | CA350399011 | BMPR2 | c.92A>C (p.Glu31Ala) c.17A>C (p.Glu6Ala) | |
2 | g.202464824A>G | CA350399009 | BMPR2 | c.92A>G (p.Glu31Gly) c.17A>G (p.Glu6Gly) | dbSNP |
2 | g.202464824A>T | CA350399007 | BMPR2 | c.92A>T (p.Glu31Val) c.17A>T (p.Glu6Val) | |
2 | g.202464825A= | CA1321507503 | BMPR2 | c.93A= (p.Glu31=) c.18A= (p.Glu6=) | |
2 | g.202464825A>C | CA350399012 | BMPR2 | c.93A>C (p.Glu31Asp) c.18A>C (p.Glu6Asp) | |
2 | g.202464825A>G | CA430903571 | BMPR2 | c.93A>G (p.Glu31=) c.18A>G (p.Glu6=) | |
2 | g.202464825A>T | CA350399014 | BMPR2 | c.93A>T (p.Glu31Asp) c.18A>T (p.Glu6Asp) | |
2 | g.202464825_202464826insT | CA915941494 | BMPR2 | c.93_94insT (p.Arg32SerfsTer6) c.18_19insT (p.Arg7SerfsTer6) n.1-1_1insT | ClinVar dbSNP |
2 | g.202464826C>A | CA430903573 | BMPR2 | c.94C>A (p.Arg32=) c.19C>A (p.Arg7=) n.1C>A | |
2 | g.202464826C= | CA1321507512 | BMPR2 | c.94C= (p.Arg32=) c.19C= (p.Arg7=) n.1C= | |
2 | g.202464826C>G | CA350399016 | BMPR2 | c.94C>G (p.Arg32Gly) c.19C>G (p.Arg7Gly) n.1C>G | |
2 | g.202464826C>T | CA2061036 | BMPR2 | c.94C>T (p.Arg32Trp) c.19C>T (p.Arg7Trp) n.1C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464827G>A | CA2061037 | BMPR2 | c.95G>A (p.Arg32Gln) c.20G>A (p.Arg7Gln) n.2G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.202464827G>C | CA350399021 | BMPR2 | c.95G>C (p.Arg32Pro) c.20G>C (p.Arg7Pro) n.2G>C | |
2 | g.202464827G= | CA1321507517 | BMPR2 | c.95G= (p.Arg32=) c.20G= (p.Arg7=) n.2G= | |
2 | g.202464827G>T | CA350399023 | BMPR2 | c.95G>T (p.Arg32Leu) c.20G>T (p.Arg7Leu) n.2G>T | |
2 | g.202464828G>A | CA430903574 | BMPR2 | c.96G>A (p.Arg32=) c.21G>A (p.Arg7=) n.3G>A | |
2 | g.202464828G>C | CA430903575 | BMPR2 | c.96G>C (p.Arg32=) c.21G>C (p.Arg7=) n.3G>C | |
2 | g.202464828G>T | CA430903576 | BMPR2 | c.96G>T (p.Arg32=) c.21G>T (p.Arg7=) n.3G>T | |
2 | g.202464829C>A | CA350399025 | BMPR2 | c.97C>A (p.Leu33Ile) c.22C>A (p.Leu8Ile) n.4C>A | gnomAD v4 |
2 | g.202464829C= | CA1321507522 | BMPR2 | c.97C= (p.Leu33=) c.22C= (p.Leu8=) n.4C= | |
2 | g.202464829C>G | CA350399027 | BMPR2 | c.97C>G (p.Leu33Val) c.22C>G (p.Leu8Val) n.4C>G | |
2 | g.202464829C>T | CA430903577 | BMPR2 | c.97C>T (p.Leu33=) c.22C>T (p.Leu8=) n.4C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.202464830T>A | CA350399030 | BMPR2 | c.98T>A (p.Leu33Gln) c.23T>A (p.Leu8Gln) n.5T>A | |
2 | g.202464830T>C | CA350399031 | BMPR2 | c.98T>C (p.Leu33Pro) c.23T>C (p.Leu8Pro) n.5T>C | |
2 | g.202464830T>G | CA350399034 | BMPR2 | c.98T>G (p.Leu33Arg) c.23T>G (p.Leu8Arg) n.5T>G | |
2 | g.202464831A= | CA1321507525 | BMPR2 | c.99A= (p.Leu33=) c.24A= (p.Leu8=) n.6A= | |
2 | g.202464831A>C | CA430903578 | BMPR2 | c.99A>C (p.Leu33=) c.24A>C (p.Leu8=) n.6A>C | |
2 | g.202464831A>G | CA430903579 | BMPR2 | c.99A>G (p.Leu33=) c.24A>G (p.Leu8=) n.6A>G | dbSNP gnomAD v4 |
2 | g.202464831A>T | CA430903580 | BMPR2 | c.99A>T (p.Leu33=) c.24A>T (p.Leu8=) n.6A>T | ClinVar gnomAD v4 |
2 | g.202464832T>A | CA350399038 | BMPR2 | c.100T>A (p.Cys34Ser) c.25T>A (p.Cys9Ser) n.7T>A | |
2 | g.202464832T>C | CA350399040 | BMPR2 | c.100T>C (p.Cys34Arg) c.25T>C (p.Cys9Arg) n.7T>C | ClinVar dbSNP |