| X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del
| ClinVar |
| X | g.50915849C>A | CA413197867 | BMP15 | c.421C>A (p.Leu141Ile)
| |
| X | g.50915849C= | CA2429025762 | BMP15 | c.421C= (p.Leu141=)
| |
| X | g.50915849C>G | CA413197866 | BMP15 | c.421C>G (p.Leu141Val)
| dbSNP |
| X | g.50915849C>T | CA10416541 | BMP15 | c.421C>T (p.Leu141Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50915850T>A | CA413197868 | BMP15 | c.422T>A (p.Leu141His)
| |
| X | g.50915850T>C | CA413197869 | BMP15 | c.422T>C (p.Leu141Pro)
| |
| X | g.50915850T>G | CA413197870 | BMP15 | c.422T>G (p.Leu141Arg)
| |
| X | g.50915851C>A | CA516681200 | BMP15 | c.423C>A (p.Leu141=)
| |
| X | g.50915851C= | CA2429025763 | BMP15 | c.423C= (p.Leu141=)
| |
| X | g.50915851C>G | CA516681201 | BMP15 | c.423C>G (p.Leu141=)
| |
| X | g.50915851C>T | CA516681202 | BMP15 | c.423C>T (p.Leu141=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.50915852C>A | CA413197871 | BMP15 | c.424C>A (p.Gln142Lys)
| |
| X | g.50915852C>G | CA413197872 | BMP15 | c.424C>G (p.Gln142Glu)
| gnomAD v4 |
| X | g.50915852C>T | CA413197873 | BMP15 | c.424C>T (p.Gln142Ter)
| |
| X | g.50915853A= | CA2429025764 | BMP15 | c.425A= (p.Gln142=)
| |
| X | g.50915853A>C | CA413197874 | BMP15 | c.425A>C (p.Gln142Pro)
| |
| X | g.50915853A>G | CA413197875 | BMP15 | c.425A>G (p.Gln142Arg)
| |
| X | g.50915853A>T | CA10416542 | BMP15 | c.425A>T (p.Gln142Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915854A= | CA2429025765 | BMP15 | c.426A= (p.Gln142=)
| |
| X | g.50915854A>C | CA413197876 | BMP15 | c.426A>C (p.Gln142His)
| |
| X | g.50915854A>G | CA516681205 | BMP15 | c.426A>G (p.Gln142=)
| dbSNP gnomAD v4 |
| X | g.50915854A>T | CA413197877 | BMP15 | c.426A>T (p.Gln142His)
| |
| X | g.50915855C>A | CA413197878 | BMP15 | c.427C>A (p.Leu143Ile)
| |
| X | g.50915855C>G | CA413197879 | BMP15 | c.427C>G (p.Leu143Val)
| |
| X | g.50915855C>T | CA516681209 | BMP15 | c.427C>T (p.Leu143=)
| |
| X | g.50915856T>A | CA413197881 | BMP15 | c.428T>A (p.Leu143Gln)
| gnomAD v4 |
| X | g.50915856T>C | CA413197882 | BMP15 | c.428T>C (p.Leu143Pro)
| |
| X | g.50915856T>G | CA413197880 | BMP15 | c.428T>G (p.Leu143Arg)
| |
| X | g.50915857A>C | CA516681211 | BMP15 | c.429A>C (p.Leu143=)
| |
| X | g.50915857A>G | CA516681214 | BMP15 | c.429A>G (p.Leu143=)
| gnomAD v4 |
| X | g.50915857A>T | CA516681216 | BMP15 | c.429A>T (p.Leu143=)
| |
| X | g.50915858A= | CA2429025766 | BMP15 | c.430A= (p.Thr144=)
| |
| X | g.50915858A>C | CA413197883 | BMP15 | c.430A>C (p.Thr144Pro)
| gnomAD v4 |
| X | g.50915858A>G | CA329809786 | BMP15 | c.430A>G (p.Thr144Ala)
| dbSNP |
| X | g.50915858A>T | CA413197884 | BMP15 | c.430A>T (p.Thr144Ser)
| |
| X | g.50915859C>A | CA413197885 | BMP15 | c.431C>A (p.Thr144Asn)
| |
| X | g.50915859C>G | CA413197886 | BMP15 | c.431C>G (p.Thr144Ser)
| |
| X | g.50915859C>T | CA413197887 | BMP15 | c.431C>T (p.Thr144Ile)
| |
| X | g.50915860T>A | CA516681220 | BMP15 | c.432T>A (p.Thr144=)
| |
| X | g.50915860T>C | CA516681221 | BMP15 | c.432T>C (p.Thr144=)
| |
| X | g.50915860T>G | CA516681223 | BMP15 | c.432T>G (p.Thr144=)
| |
| X | g.50915861C>A | CA413197888 | BMP15 | c.433C>A (p.Arg145Ser)
| |
| X | g.50915861C= | CA2429025767 | BMP15 | c.433C= (p.Arg145=)
| |
| X | g.50915861C>G | CA413197889 | BMP15 | c.433C>G (p.Arg145Gly)
| gnomAD v4 |
| X | g.50915861C>T | CA10416543 | BMP15 | c.433C>T (p.Arg145Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915862G>A | CA10416544 | BMP15 | c.434G>A (p.Arg145His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915862G>C | CA413197890 | BMP15 | c.434G>C (p.Arg145Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.50915862G= | CA2429025768 | BMP15 | c.434G= (p.Arg145=)
| |
| X | g.50915862G>T | CA413197891 | BMP15 | c.434G>T (p.Arg145Leu)
| |
| X | g.50915863C>A | CA516681232 | BMP15 | c.435C>A (p.Arg145=)
| |
| X | g.50915863C>G | CA516681230 | BMP15 | c.435C>G (p.Arg145=)
| |
| X | g.50915863C>T | CA516681228 | BMP15 | c.435C>T (p.Arg145=)
| |
| X | g.50915864T>A | CA413197894 | BMP15 | c.436T>A (p.Phe146Ile)
| |
| X | g.50915864T>C | CA413197892 | BMP15 | c.436T>C (p.Phe146Leu)
| |
| X | g.50915864T>G | CA413197893 | BMP15 | c.436T>G (p.Phe146Val)
| |
| X | g.50915865T>A | CA413197895 | BMP15 | c.437T>A (p.Phe146Tyr)
| |
| X | g.50915865T>C | CA413197896 | BMP15 | c.437T>C (p.Phe146Ser)
| |
| X | g.50915865T>G | CA413197897 | BMP15 | c.437T>G (p.Phe146Cys)
| |
| 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)
| |
| X | g.50915880A>T | CA413197932 | BMP15 | c.452A>T (p.His151Leu)
| gnomAD v4 |
| X | g.50915881T>A | CA329809787 | BMP15 | c.453T>A (p.His151Gln)
| dbSNP |
| X | g.50915881T>C | CA516681262 | BMP15 | c.453T>C (p.His151=)
| gnomAD v4 |
| X | g.50915881T>G | CA413197933 | BMP15 | c.453T>G (p.His151Gln)
| |
| X | g.50915881T= | CA2429025772 | BMP15 | c.453T= (p.His151=)
| |
| X | g.50915882G>A | CA413197936 | BMP15 | c.454G>A (p.Val152Met)
| |
| X | g.50915882G>C | CA413197935 | BMP15 | c.454G>C (p.Val152Leu)
| |
| X | g.50915882G>T | CA413197934 | BMP15 | c.454G>T (p.Val152Leu)
| |
| X | g.50915883T>A | CA413197938 | BMP15 | c.455T>A (p.Val152Glu)
| |
| X | g.50915883T>C | CA329809788 | BMP15 | c.455T>C (p.Val152Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50915883T>G | CA413197937 | BMP15 | c.455T>G (p.Val152Gly)
| |
| X | g.50915883T= | CA2429025773 | BMP15 | c.455T= (p.Val152=)
| |
| X | g.50915884G>A | CA516681269 | BMP15 | c.456G>A (p.Val152=)
| |
| X | g.50915884G>C | CA516681268 | BMP15 | c.456G>C (p.Val152=)
| |
| X | g.50915884G>T | CA516681266 | BMP15 | c.456G>T (p.Val152=)
| |
| X | g.50915885G>A | CA413197939 | BMP15 | c.457G>A (p.Glu153Lys)
| |
| X | g.50915885G>C | CA413197940 | BMP15 | c.457G>C (p.Glu153Gln)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.50915885G= | CA2429025774 | BMP15 | c.457G= (p.Glu153=)
| |
| X | g.50915885G>T | CA413197941 | BMP15 | c.457G>T (p.Glu153Ter)
| |
| X | g.50915886A>C | CA413197942 | BMP15 | c.458A>C (p.Glu153Ala)
| |
| X | g.50915886A>G | CA413197943 | BMP15 | c.458A>G (p.Glu153Gly)
| |
| X | g.50915886A>T | CA413197944 | BMP15 | c.458A>T (p.Glu153Val)
| |
| X | g.50915887G>A | CA516681271 | BMP15 | c.459G>A (p.Glu153=)
| gnomAD v4 |
| X | g.50915887G>C | CA413197945 | BMP15 | c.459G>C (p.Glu153Asp)
| |
| X | g.50915887G>T | CA413197946 | BMP15 | c.459G>T (p.Glu153Asp)
| gnomAD v4 |
| X | g.50915887_50915888delinsGC | CA2429025775 | BMP15 | c.459_460delinsGC (p.Glu153=)
| |
| X | g.50915888C>A | CA413197947 | BMP15 | c.460C>A (p.Pro154Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50915888C= | CA2429025776 | BMP15 | c.460C= (p.Pro154=)
| |
| X | g.50915888C>G | CA413197948 | BMP15 | c.460C>G (p.Pro154Ala)
| gnomAD v3 gnomAD v4 |
| X | g.50915888C>T | CA413197949 | BMP15 | c.460C>T (p.Pro154Ser)
| |
| X | g.50915890del | CA1139667558 | BMP15 | c.462del (p.Trp155GlyfsTer22)
| ClinVar dbSNP |
| X | g.50915889C>A | CA413197952 | BMP15 | c.461C>A (p.Pro154His)
| |
| X | g.50915889C= | CA2429025777 | BMP15 | c.461C= (p.Pro154=)
| |
| X | g.50915889C>G | CA413197950 | BMP15 | c.461C>G (p.Pro154Arg)
| |
| X | g.50915889C>T | CA413197951 | BMP15 | c.461C>T (p.Pro154Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915890C>A | CA516681272 | BMP15 | c.462C>A (p.Pro154=)
| |
| X | g.50915890C>G | CA516681274 | BMP15 | c.462C>G (p.Pro154=)
| |
| X | g.50915890C>T | CA516681273 | BMP15 | c.462C>T (p.Pro154=)
| |
| X | g.50915891T>A | CA413197953 | BMP15 | c.463T>A (p.Trp155Arg)
| |
| X | g.50915891T>C | CA413197954 | BMP15 | c.463T>C (p.Trp155Arg)
| COSMIC |
| X | g.50915891T>G | CA413197955 | BMP15 | c.463T>G (p.Trp155Gly)
| |
| X | g.50915892G>A | CA413197956 | BMP15 | c.464G>A (p.Trp155Ter)
| |
| X | g.50915892G>C | CA413197957 | BMP15 | c.464G>C (p.Trp155Ser)
| |
| X | g.50915892G>T | CA413197958 | BMP15 | c.464G>T (p.Trp155Leu)
| |
| X | g.50915893G>A | CA413197959 | BMP15 | c.465G>A (p.Trp155Ter)
| |
| X | g.50915893G>C | CA413197960 | BMP15 | c.465G>C (p.Trp155Cys)
| |
| X | g.50915893G>T | CA413197961 | BMP15 | c.465G>T (p.Trp155Cys)
| |
| X | g.50915894G>A | CA413197962 | BMP15 | c.466G>A (p.Val156Met)
| |
| X | g.50915894G>C | CA413197963 | BMP15 | c.466G>C (p.Val156Leu)
| |
| X | g.50915894G>T | CA413197964 | BMP15 | c.466G>T (p.Val156Leu)
| |
| X | g.50915895T>A | CA413197966 | BMP15 | c.467T>A (p.Val156Glu)
| |
| X | g.50915895T>C | CA413197967 | BMP15 | c.467T>C (p.Val156Ala)
| |
| X | g.50915895T>G | CA413197965 | BMP15 | c.467T>G (p.Val156Gly)
| |
| X | g.50915896G>A | CA516681275 | BMP15 | c.468G>A (p.Val156=)
| |
| X | g.50915896G>C | CA516681277 | BMP15 | c.468G>C (p.Val156=)
| |
| X | g.50915896G>T | CA516681276 | BMP15 | c.468G>T (p.Val156=)
| |
| X | g.50915897C>A | CA413197968 | BMP15 | c.469C>A (p.Gln157Lys)
| |
| X | g.50915897C>G | CA413197970 | BMP15 | c.469C>G (p.Gln157Glu)
| |
| X | g.50915897C>T | CA413197969 | BMP15 | c.469C>T (p.Gln157Ter)
| |
| X | g.50915898A>C | CA413197971 | BMP15 | c.470A>C (p.Gln157Pro)
| gnomAD v4 |
| X | g.50915898A>G | CA413197973 | BMP15 | c.470A>G (p.Gln157Arg)
| gnomAD v4 |
| X | g.50915898A>T | CA413197972 | BMP15 | c.470A>T (p.Gln157Leu)
| |
| X | g.50915899G>A | CA516681278 | BMP15 | c.471G>A (p.Gln157=)
| |
| X | g.50915899G>C | CA413197974 | BMP15 | c.471G>C (p.Gln157His)
| |
| X | g.50915899G>T | CA413197975 | BMP15 | c.471G>T (p.Gln157His)
| |
| X | g.50915900A>C | CA413197976 | BMP15 | c.472A>C (p.Lys158Gln)
| |
| X | g.50915900A>G | CA413197977 | BMP15 | c.472A>G (p.Lys158Glu)
| |
| X | g.50915900A>T | CA413197978 | BMP15 | c.472A>T (p.Lys158Ter)
| |
| X | g.50915901A>C | CA413197979 | BMP15 | c.473A>C (p.Lys158Thr)
| |
| X | g.50915901A>G | CA413197980 | BMP15 | c.473A>G (p.Lys158Arg)
| |
| X | g.50915901A>T | CA413197981 | BMP15 | c.473A>T (p.Lys158Ile)
| |
| X | g.50915902A= | CA2429025778 | BMP15 | c.474A= (p.Lys158=)
| |
| X | g.50915902A>C | CA413197982 | BMP15 | c.474A>C (p.Lys158Asn)
| |
| X | g.50915902A>G | CA10416547 | BMP15 | c.474A>G (p.Lys158=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915902A>T | CA413197983 | BMP15 | c.474A>T (p.Lys158Asn)
| |
| X | g.50915903A>C | CA413197984 | BMP15 | c.475A>C (p.Asn159His)
| |
| X | g.50915903A>G | CA413197985 | BMP15 | c.475A>G (p.Asn159Asp)
| |
| X | g.50915903A>T | CA413197986 | BMP15 | c.475A>T (p.Asn159Tyr)
| |
| X | g.50915904A>C | CA413197987 | BMP15 | c.476A>C (p.Asn159Thr)
| |
| X | g.50915904A>G | CA413197989 | BMP15 | c.476A>G (p.Asn159Ser)
| gnomAD v4 |
| X | g.50915904A>T | CA413197988 | BMP15 | c.476A>T (p.Asn159Ile)
| |
| X | g.50915905C>A | CA413197990 | BMP15 | c.477C>A (p.Asn159Lys)
| gnomAD v4 |
| X | g.50915905C>G | CA413197991 | BMP15 | c.477C>G (p.Asn159Lys)
| |
| X | g.50915905C>T | CA516681279 | BMP15 | c.477C>T (p.Asn159=)
| COSMIC |
| X | g.50915906C>A | CA413197992 | BMP15 | c.478C>A (p.Pro160Thr)
| |
| X | g.50915906C>G | CA413197993 | BMP15 | c.478C>G (p.Pro160Ala)
| |
| X | g.50915906C>T | CA413197994 | BMP15 | c.478C>T (p.Pro160Ser)
| |
| X | g.50915907C>A | CA413197995 | BMP15 | c.479C>A (p.Pro160Gln)
| |
| X | g.50915907C>G | CA413197996 | BMP15 | c.479C>G (p.Pro160Arg)
| |
| X | g.50915907C>T | CA413197997 | BMP15 | c.479C>T (p.Pro160Leu)
| |
| X | g.50915908A= | CA2429025779 | BMP15 | c.480A= (p.Pro160=)
| |
| X | g.50915908A>C | CA10416548 | BMP15 | c.480A>C (p.Pro160=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915908A>G | CA516681280 | BMP15 | c.480A>G (p.Pro160=)
| |
| X | g.50915908A>T | CA516681281 | BMP15 | c.480A>T (p.Pro160=)
| |
| X | g.50915909dup | CA2693751508 | BMP15 | c.481dup (p.Thr161AsnfsTer19)
| gnomAD v4 |
| X | g.50915909A= | CA2429025780 | BMP15 | c.481A= (p.Thr161=)
| |
| X | g.50915909A>C | CA413197999 | BMP15 | c.481A>C (p.Thr161Pro)
| |
| X | g.50915909A>G | CA413198000 | BMP15 | c.481A>G (p.Thr161Ala)
| dbSNP |
| X | g.50915909A>T | CA413197998 | BMP15 | c.481A>T (p.Thr161Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.50915910C>A | CA413198001 | BMP15 | c.482C>A (p.Thr161Asn)
| |
| X | g.50915910C>G | CA413198002 | BMP15 | c.482C>G (p.Thr161Ser)
| |
| X | g.50915910C>T | CA413198003 | BMP15 | c.482C>T (p.Thr161Ile)
| |
| X | g.50915911C>A | CA516681285 | BMP15 | c.483C>A (p.Thr161=)
| |
| X | g.50915911C>G | CA516681283 | BMP15 | c.483C>G (p.Thr161=)
| gnomAD v4 |
| X | g.50915911C>T | CA516681284 | BMP15 | c.483C>T (p.Thr161=)
| |
| X | g.50915912A>C | CA413198004 | BMP15 | c.484A>C (p.Asn162His)
| |
| X | g.50915912A>G | CA413198005 | BMP15 | c.484A>G (p.Asn162Asp)
| |
| X | g.50915912A>T | CA413198006 | BMP15 | c.484A>T (p.Asn162Tyr)
| |
| X | g.50915913A>C | CA413198007 | BMP15 | c.485A>C (p.Asn162Thr)
| |
| X | g.50915913A>G | CA413198008 | BMP15 | c.485A>G (p.Asn162Ser)
| |
| X | g.50915913A>T | CA413198009 | BMP15 | c.485A>T (p.Asn162Ile)
| |
| X | g.50915914C>A | CA413198010 | BMP15 | c.486C>A (p.Asn162Lys)
| gnomAD v4 |
| X | g.50915914C>G | CA413198011 | BMP15 | c.486C>G (p.Asn162Lys)
| |
| X | g.50915914C>T | CA516681288 | BMP15 | c.486C>T (p.Asn162=)
| |
| X | g.50915915C>A | CA413198013 | BMP15 | c.487C>A (p.His163Asn)
| gnomAD v4 |
| X | g.50915915C>G | CA413198014 | BMP15 | c.487C>G (p.His163Asp)
| |
| X | g.50915915C>T | CA413198012 | BMP15 | c.487C>T (p.His163Tyr)
| |
| X | g.50915916A>C | CA413198015 | BMP15 | c.488A>C (p.His163Pro)
| |
| X | g.50915916A>G | CA413198016 | BMP15 | c.488A>G (p.His163Arg)
| |
| X | g.50915916A>T | CA413198017 | BMP15 | c.488A>T (p.His163Leu)
| gnomAD v4 |
| X | g.50915917C>A | CA413198018 | BMP15 | c.489C>A (p.His163Gln)
| |
| X | g.50915917C>G | CA413198019 | BMP15 | c.489C>G (p.His163Gln)
| gnomAD v4 |
| X | g.50915917C>T | CA516681289 | BMP15 | c.489C>T (p.His163=)
| |
| X | g.50915918T>A | CA413198022 | BMP15 | c.490T>A (p.Phe164Ile)
| |
| X | g.50915918T>C | CA413198020 | BMP15 | c.490T>C (p.Phe164Leu)
| |
| X | g.50915918T>G | CA413198021 | BMP15 | c.490T>G (p.Phe164Val)
| |
| X | g.50915919T>A | CA413198023 | BMP15 | c.491T>A (p.Phe164Tyr)
| |
| X | g.50915919T>C | CA413198024 | BMP15 | c.491T>C (p.Phe164Ser)
| |
| X | g.50915919T>G | CA413198025 | BMP15 | c.491T>G (p.Phe164Cys)
| |
| X | g.50915920C>A | CA413198026 | BMP15 | c.492C>A (p.Phe164Leu)
| |
| X | g.50915920C>G | CA413198027 | BMP15 | c.492C>G (p.Phe164Leu)
| |
| X | g.50915920C>T | CA516681291 | BMP15 | c.492C>T (p.Phe164=)
| |
| X | g.50915921C>A | CA413198030 | BMP15 | c.493C>A (p.Pro165Thr)
| |
| X | g.50915921C>G | CA413198029 | BMP15 | c.493C>G (p.Pro165Ala)
| |
| X | g.50915921C>T | CA413198028 | BMP15 | c.493C>T (p.Pro165Ser)
| COSMIC |
| X | g.50915922C>A | CA413198031 | BMP15 | c.494C>A (p.Pro165His)
| |
| X | g.50915922C>G | CA413198032 | BMP15 | c.494C>G (p.Pro165Arg)
| COSMIC |
| X | g.50915922C>T | CA413198033 | BMP15 | c.494C>T (p.Pro165Leu)
| gnomAD v4 |
| X | g.50915923T>A | CA516681293 | BMP15 | c.495T>A (p.Pro165=)
| |
| X | g.50915923T>C | CA516681294 | BMP15 | c.495T>C (p.Pro165=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915923T>G | CA516681295 | BMP15 | c.495T>G (p.Pro165=)
| |
| X | g.50915923T= | CA2429025781 | BMP15 | c.495T= (p.Pro165=)
| |
| X | g.50915924T>A | CA413198034 | BMP15 | c.496T>A (p.Ser166Thr)
| COSMIC |
| X | g.50915924T>C | CA413198035 | BMP15 | c.496T>C (p.Ser166Pro)
| |
| X | g.50915924T>G | CA413198036 | BMP15 | c.496T>G (p.Ser166Ala)
| |
| X | g.50915925C>A | CA413198039 | BMP15 | c.497C>A (p.Ser166Tyr)
| |
| X | g.50915925C>G | CA413198038 | BMP15 | c.497C>G (p.Ser166Cys)
| |
| X | g.50915925C>T | CA413198037 | BMP15 | c.497C>T (p.Ser166Phe)
| |
| X | g.50915926C>A | CA516681301 | BMP15 | c.498C>A (p.Ser166=)
| |
| X | g.50915926C= | CA2429025782 | BMP15 | c.498C= (p.Ser166=)
| |
| X | g.50915926C>G | CA516681298 | BMP15 | c.498C>G (p.Ser166=)
| |
| X | g.50915926C>T | CA516681300 | BMP15 | c.498C>T (p.Ser166=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.50915927T>A | CA413198040 | BMP15 | c.499T>A (p.Ser167Thr)
| |
| X | g.50915927T>C | CA413198041 | BMP15 | c.499T>C (p.Ser167Pro)
| |
| X | g.50915927T>G | CA413198042 | BMP15 | c.499T>G (p.Ser167Ala)
| |
| X | g.50915928C>A | CA413198043 | BMP15 | c.500C>A (p.Ser167Ter)
| |
| X | g.50915928C= | CA2429025783 | BMP15 | c.500C= (p.Ser167=)
| |
| X | g.50915928C>G | CA413198044 | BMP15 | c.500C>G (p.Ser167Ter)
| |
| X | g.50915928C>T | CA10416549 | BMP15 | c.500C>T (p.Ser167Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50915929A>C | CA516681302 | BMP15 | c.501A>C (p.Ser167=)
| |
| X | g.50915929A>G | CA516681303 | BMP15 | c.501A>G (p.Ser167=)
| |
| X | g.50915929A>T | CA516681304 | BMP15 | c.501A>T (p.Ser167=)
| |
| X | g.50915930G>A | CA413198045 | BMP15 | c.502G>A (p.Glu168Lys)
| COSMIC |
| X | g.50915930G>C | CA413198047 | BMP15 | c.502G>C (p.Glu168Gln)
| |
| X | g.50915930G>T | CA413198046 | BMP15 | c.502G>T (p.Glu168Ter)
| |
| X | g.50915930_50915945delinsGAAGGAGATTCCTCAA | CA2429025784 | BMP15 | c.502_517delinsGAAGGAGATTCCTCAA (p.Glu168=)
| |
| X | g.50915931A>C | CA413198048 | BMP15 | c.503A>C (p.Glu168Ala)
| gnomAD v4 |
| X | g.50915931A>G | CA413198049 | BMP15 | c.503A>G (p.Glu168Gly)
| |
| X | g.50915931A>T | CA413198050 | BMP15 | c.503A>T (p.Glu168Val)
| |
| X | g.50915933_50915947del | CA10416550 | BMP15 | c.505_519del (p.Gly169_Lys173del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50915932A>C | CA413198051 | BMP15 | c.504A>C (p.Glu168Asp)
| |
| X | g.50915932A>G | CA516681307 | BMP15 | c.504A>G (p.Glu168=)
| |
| X | g.50915932A>T | CA413198052 | BMP15 | c.504A>T (p.Glu168Asp)
| |
| X | g.50915933G>A | CA413198053 | BMP15 | c.505G>A (p.Gly169Arg)
| COSMIC |
| X | g.50915933G>C | CA413198054 | BMP15 | c.505G>C (p.Gly169Arg)
| |
| X | g.50915933G>T | CA413198055 | BMP15 | c.505G>T (p.Gly169Ter)
| |
| X | g.50915934G>A | CA10416551 | BMP15 | c.506G>A (p.Gly169Glu)
| dbSNP ExAC gnomAD v2 |
| X | g.50915934G>C | CA10416552 | BMP15 | c.506G>C (p.Gly169Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915934G= | CA2429025785 | BMP15 | c.506G= (p.Gly169=)
| |
| X | g.50915934G>T | CA413198056 | BMP15 | c.506G>T (p.Gly169Val)
| |
| X | g.50915935A>C | CA516681311 | BMP15 | c.507A>C (p.Gly169=)
| |
| X | g.50915935A>G | CA516681312 | BMP15 | c.507A>G (p.Gly169=)
| |
| X | g.50915935A>T | CA516681313 | BMP15 | c.507A>T (p.Gly169=)
| |
| X | g.50915936G>A | CA413198057 | BMP15 | c.508G>A (p.Asp170Asn)
| |
| X | g.50915936G>C | CA413198059 | BMP15 | c.508G>C (p.Asp170His)
| |
| X | g.50915936G>T | CA413198058 | BMP15 | c.508G>T (p.Asp170Tyr)
| |
| X | g.50915937A>C | CA413198060 | BMP15 | c.509A>C (p.Asp170Ala)
| |
| X | g.50915937A>G | CA413198061 | BMP15 | c.509A>G (p.Asp170Gly)
| |
| X | g.50915937A>T | CA413198062 | BMP15 | c.509A>T (p.Asp170Val)
| |
| X | g.50915938T>A | CA413198063 | BMP15 | c.510T>A (p.Asp170Glu)
| |
| X | g.50915938T>C | CA516681315 | BMP15 | c.510T>C (p.Asp170=)
| |
| X | g.50915938T>G | CA10416553 | BMP15 | c.510T>G (p.Asp170Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50915938T= | CA2429025786 | BMP15 | c.510T= (p.Asp170=)
| |
| X | g.50915939T>A | CA413198064 | BMP15 | c.511T>A (p.Ser171Thr)
| |
| X | g.50915939T>C | CA413198065 | BMP15 | c.511T>C (p.Ser171Pro)
| |
| X | g.50915939T>G | CA413198066 | BMP15 | c.511T>G (p.Ser171Ala)
| |
| X | g.50915940C>A | CA413198067 | BMP15 | c.512C>A (p.Ser171Tyr)
| |
| X | g.50915940C>G | CA413198068 | BMP15 | c.512C>G (p.Ser171Cys)
| |
| X | g.50915940C>T | CA413198069 | BMP15 | c.512C>T (p.Ser171Phe)
| |
| X | g.50915941C>A | CA516681323 | BMP15 | c.513C>A (p.Ser171=)
| |
| X | g.50915941C>G | CA516681324 | BMP15 | c.513C>G (p.Ser171=)
| |
| X | g.50915941C>T | CA516681325 | BMP15 | c.513C>T (p.Ser171=)
| |
| X | g.50915942T>A | CA413198072 | BMP15 | c.514T>A (p.Ser172Thr)
| |
| X | g.50915942T>C | CA413198071 | BMP15 | c.514T>C (p.Ser172Pro)
| |
| X | g.50915942T>G | CA413198070 | BMP15 | c.514T>G (p.Ser172Ala)
| |
| X | g.50915943C>A | CA413198073 | BMP15 | c.515C>A (p.Ser172Ter)
| |
| X | g.50915943C>G | CA413198074 | BMP15 | c.515C>G (p.Ser172Ter)
| |
| X | g.50915943C>T | CA413198075 | BMP15 | c.515C>T (p.Ser172Leu)
| gnomAD v4 |
| X | g.50915943_50915944delinsCA | CA2429025787 | BMP15 | c.515_516delinsCA (p.Ser172=)
| |
| X | g.50915944A>C | CA516681334 | BMP15 | c.516A>C (p.Ser172=)
| |
| X | g.50915944A>G | CA516681335 | BMP15 | c.516A>G (p.Ser172=)
| |
| X | g.50915944A>T | CA516681336 | BMP15 | c.516A>T (p.Ser172=)
| |
| X | g.50915947del | CA329809789 | BMP15 | c.519del (p.Lys173AsnfsTer4)
| dbSNP gnomAD v4 |
| X | g.50915945A>C | CA413198076 | BMP15 | c.517A>C (p.Lys173Gln)
| |
| X | g.50915945A>G | CA413198077 | BMP15 | c.517A>G (p.Lys173Glu)
| |
| X | g.50915945A>T | CA413198078 | BMP15 | c.517A>T (p.Lys173Ter)
| |
| X | g.50915946A>C | CA413198079 | BMP15 | c.518A>C (p.Lys173Thr)
| |
| X | g.50915946A>G | CA413198080 | BMP15 | c.518A>G (p.Lys173Arg)
| |
| X | g.50915946A>T | CA413198081 | BMP15 | c.518A>T (p.Lys173Ile)
| |
| X | g.50915947A>C | CA413198082 | BMP15 | c.519A>C (p.Lys173Asn)
| |
| X | g.50915947A>G | CA516681341 | BMP15 | c.519A>G (p.Lys173=)
| |
| X | g.50915947A>T | CA413198083 | BMP15 | c.519A>T (p.Lys173Asn)
| |
| X | g.50915948C>A | CA413198084 | BMP15 | c.520C>A (p.Pro174Thr)
| |
| X | g.50915948C= | CA2429025788 | BMP15 | c.520C= (p.Pro174=)
| |
| X | g.50915948C>G | CA413198085 | BMP15 | c.520C>G (p.Pro174Ala)
| |
| X | g.50915948C>T | CA10416554 | BMP15 | c.520C>T (p.Pro174Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50915949C>A | CA413198087 | BMP15 | c.521C>A (p.Pro174His)
| |
| X | g.50915949C>G | CA413198086 | BMP15 | c.521C>G (p.Pro174Arg)
| |
| X | g.50915949C>T | CA413198088 | BMP15 | c.521C>T (p.Pro174Leu)
| |
