Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del | ClinVar |
X | g.50915867_50915870del | CA2579612653 | BMP15 | c.439_442del (p.Asn147SerfsTer29) | |
X | g.50915866C>A | CA413197898 | BMP15 | c.438C>A (p.Phe146Leu) | |
X | g.50915866C>G | CA413197899 | BMP15 | c.438C>G (p.Phe146Leu) | |
X | g.50915866C>T | CA516681234 | BMP15 | c.438C>T (p.Phe146=) | |
X | g.50915868_50915880del | CA2693751507 | BMP15 | c.440_452del (p.Asn147MetfsTer26) | gnomAD v4 |
X | g.50915867A>C | CA413197900 | BMP15 | c.439A>C (p.Asn147His) | |
X | g.50915867A>G | CA413197901 | BMP15 | c.439A>G (p.Asn147Asp) | |
X | g.50915867A>T | CA413197902 | BMP15 | c.439A>T (p.Asn147Tyr) | |
X | g.50915868A>C | CA413197903 | BMP15 | c.440A>C (p.Asn147Thr) | |
X | g.50915868A>G | CA413197904 | BMP15 | c.440A>G (p.Asn147Ser) | |
X | g.50915868A>T | CA413197905 | BMP15 | c.440A>T (p.Asn147Ile) | |
X | g.50915869T>A | CA413197907 | BMP15 | c.441T>A (p.Asn147Lys) | |
X | g.50915869T>C | CA516681242 | BMP15 | c.441T>C (p.Asn147=) | |
X | g.50915869T>G | CA413197906 | BMP15 | c.441T>G (p.Asn147Lys) | |
X | g.50915870C>A | CA413197908 | BMP15 | c.442C>A (p.Leu148Ile) | |
X | g.50915870C= | CA2429025769 | BMP15 | c.442C= (p.Leu148=) | |
X | g.50915870C>G | CA413197910 | BMP15 | c.442C>G (p.Leu148Val) | |
X | g.50915870C>T | CA413197909 | BMP15 | c.442C>T (p.Leu148Phe) | dbSNP |
X | g.50915871T>A | CA413197911 | BMP15 | c.443T>A (p.Leu148His) | |
X | g.50915871T>C | CA10416545 | BMP15 | c.443T>C (p.Leu148Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50915871T>G | CA413197912 | BMP15 | c.443T>G (p.Leu148Arg) | |
X | g.50915871T= | CA2429025770 | BMP15 | c.443T= (p.Leu148=) | |
X | g.50915872C>A | CA516681247 | BMP15 | c.444C>A (p.Leu148=) | |
X | g.50915872C>G | CA516681248 | BMP15 | c.444C>G (p.Leu148=) | |
X | g.50915872C>T | CA516681250 | BMP15 | c.444C>T (p.Leu148=) | |
X | g.50915873T>A | CA413197913 | BMP15 | c.445T>A (p.Ser149Thr) | |
X | g.50915873T>C | CA413197914 | BMP15 | c.445T>C (p.Ser149Pro) | |
X | g.50915873T>G | CA413197915 | BMP15 | c.445T>G (p.Ser149Ala) | |
X | g.50915874C>A | CA413197916 | BMP15 | c.446C>A (p.Ser149Tyr) | |
X | g.50915874C>G | CA413197917 | BMP15 | c.446C>G (p.Ser149Cys) | |
X | g.50915874C>T | CA413197918 | BMP15 | c.446C>T (p.Ser149Phe) | |
X | g.50915875C>A | CA516681252 | BMP15 | c.447C>A (p.Ser149=) | |
X | g.50915875C>G | CA516681253 | BMP15 | c.447C>G (p.Ser149=) | |
X | g.50915875C>T | CA516681254 | BMP15 | c.447C>T (p.Ser149=) | gnomAD v4 |
X | g.50915876T>A | CA413197919 | BMP15 | c.448T>A (p.Cys150Ser) | |
X | g.50915876T>C | CA413197920 | BMP15 | c.448T>C (p.Cys150Arg) | |
X | g.50915876T>G | CA413197921 | BMP15 | c.448T>G (p.Cys150Gly) | |
X | g.50915877G>A | CA413197924 | BMP15 | c.449G>A (p.Cys150Tyr) | |
X | g.50915877G>C | CA413197922 | BMP15 | c.449G>C (p.Cys150Ser) | |
X | g.50915877G>T | CA413197923 | BMP15 | c.449G>T (p.Cys150Phe) | |
X | g.50915878C>A | CA413197925 | BMP15 | c.450C>A (p.Cys150Ter) | |
X | g.50915878C= | CA2429025771 | BMP15 | c.450C= (p.Cys150=) | |
X | g.50915878C>G | CA413197926 | BMP15 | c.450C>G (p.Cys150Trp) | |
X | g.50915878C>T | CA10416546 | BMP15 | c.450C>T (p.Cys150=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50915879C>A | CA413197927 | BMP15 | c.451C>A (p.His151Asn) | |
X | g.50915879C>G | CA413197928 | BMP15 | c.451C>G (p.His151Asp) | |
X | g.50915879C>T | CA413197929 | BMP15 | c.451C>T (p.His151Tyr) | |
X | g.50915880A>C | CA413197930 | BMP15 | c.452A>C (p.His151Pro) | |
X | g.50915880A>G | CA413197931 | BMP15 | c.452A>G (p.His151Arg) |