UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del | ClinVar |
| X | g.50910792C>A | CA516680201 | BMP15 | c.9C>A (p.Leu3=) | |
| X | g.50910792C>G | CA516680203 | BMP15 | c.9C>G (p.Leu3=) | |
| X | g.50910792C>T | CA516680204 | BMP15 | c.9C>T (p.Leu3=) | |
| X | g.50910793C>A | CA413196983 | BMP15 | c.10C>A (p.Leu4Ile) | |
| X | g.50910793C= | CA2429023928 | BMP15 | c.10C= (p.Leu4=) | |
| X | g.50910793C>G | CA413196985 | BMP15 | c.10C>G (p.Leu4Val) | |
| X | g.50910793C>T | CA413196984 | BMP15 | c.10C>T (p.Leu4Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910794T>A | CA413196986 | BMP15 | c.11T>A (p.Leu4His) | |
| X | g.50910794T>C | CA413196987 | BMP15 | c.11T>C (p.Leu4Pro) | |
| X | g.50910794T>G | CA413196988 | BMP15 | c.11T>G (p.Leu4Arg) | gnomAD v4 |
| X | g.50910794_50910796del | CA2693751390 | BMP15 | c.11_13del (p.Leu4_Ser5delinsArg) | gnomAD v4 |
| X | g.50910795C>A | CA516680207 | BMP15 | c.12C>A (p.Leu4=) | gnomAD v4 |
| X | g.50910795C>G | CA516680209 | BMP15 | c.12C>G (p.Leu4=) | |
| X | g.50910795C>T | CA516680211 | BMP15 | c.12C>T (p.Leu4=) | gnomAD v4 |
| X | g.50910796A= | CA2429023929 | BMP15 | c.13A= (p.Ser5=) | |
| X | g.50910796A>C | CA10416472 | BMP15 | c.13A>C (p.Ser5Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910796A>G | CA413196989 | BMP15 | c.13A>G (p.Ser5Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910796A>T | CA413196990 | BMP15 | c.13A>T (p.Ser5Cys) | |
| X | g.50910797G>A | CA413196991 | BMP15 | c.14G>A (p.Ser5Asn) | |
| X | g.50910797G>C | CA413196992 | BMP15 | c.14G>C (p.Ser5Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910797G= | CA2429023930 | BMP15 | c.14G= (p.Ser5=) | |
| X | g.50910797G>T | CA413196993 | BMP15 | c.14G>T (p.Ser5Ile) | |
| X | g.50910798T>A | CA413196994 | BMP15 | c.15T>A (p.Ser5Arg) | |
| X | g.50910798T>C | CA516680216 | BMP15 | c.15T>C (p.Ser5=) | |
| X | g.50910798T>G | CA413196995 | BMP15 | c.15T>G (p.Ser5Arg) | |
| X | g.50910799A>C | CA413196996 | BMP15 | c.16A>C (p.Ile6Leu) | |
| X | g.50910799A>G | CA413196998 | BMP15 | c.16A>G (p.Ile6Val) | |
| X | g.50910799A>T | CA413196997 | BMP15 | c.16A>T (p.Ile6Phe) | |
| X | g.50910800T>A | CA413196999 | BMP15 | c.17T>A (p.Ile6Asn) | |
| X | g.50910800T>C | CA413197001 | BMP15 | c.17T>C (p.Ile6Thr) | |
| X | g.50910800T>G | CA413197000 | BMP15 | c.17T>G (p.Ile6Ser) | |
| X | g.50910801T>A | CA516680220 | BMP15 | c.18T>A (p.Ile6=) | |
| X | g.50910801T>C | CA516680222 | BMP15 | c.18T>C (p.Ile6=) | |
| X | g.50910801T>G | CA413197002 | BMP15 | c.18T>G (p.Ile6Met) | |
| X | g.50910802C>A | CA413197003 | BMP15 | c.19C>A (p.Leu7Ile) | |
| X | g.50910802C= | CA2429023931 | BMP15 | c.19C= (p.Leu7=) | |
| X | g.50910802C>G | CA10416473 | BMP15 | c.19C>G (p.Leu7Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910802C>T | CA413197004 | BMP15 | c.19C>T (p.Leu7Phe) | gnomAD v4 |
| X | g.50910803T>A | CA413197005 | BMP15 | c.20T>A (p.Leu7His) | |
| X | g.50910803T>C | CA413197006 | BMP15 | c.20T>C (p.Leu7Pro) | |
| X | g.50910803T>G | CA413197007 | BMP15 | c.20T>G (p.Leu7Arg) | |
| X | g.50910804del | CA2693751391 | BMP15 | c.21del (p.Arg8GlufsTer?) | gnomAD v4 |
| X | g.50910804T>A | CA516680225 | BMP15 | c.21T>A (p.Leu7=) | |
| X | g.50910804T>C | CA516680227 | BMP15 | c.21T>C (p.Leu7=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910804T>G | CA516680226 | BMP15 | c.21T>G (p.Leu7=) | |
| X | g.50910804T= | CA2429023932 | BMP15 | c.21T= (p.Leu7=) | |
| X | g.50910805A>C | CA516680229 | BMP15 | c.22A>C (p.Arg8=) | |
| X | g.50910805A>G | CA413197008 | BMP15 | c.22A>G (p.Arg8Gly) | gnomAD v4 |
| X | g.50910805A>T | CA413197009 | BMP15 | c.22A>T (p.Arg8Ter) | |
| X | g.50910806G>A | CA413197010 | BMP15 | c.23G>A (p.Arg8Lys) | |
| X | g.50910806G>C | CA413197011 | BMP15 | c.23G>C (p.Arg8Thr) | |
| X | g.50910806G= | CA2429023933 | BMP15 | c.23G= (p.Arg8=) | |
| X | g.50910806G>T | CA10416474 | BMP15 | c.23G>T (p.Arg8Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.50910807A>C | CA413197012 | BMP15 | c.24A>C (p.Arg8Ser) | |
| X | g.50910807A>G | CA516680231 | BMP15 | c.24A>G (p.Arg8=) | |
| X | g.50910807A>T | CA413197013 | BMP15 | c.24A>T (p.Arg8Ser) | |
| X | g.50910808A= | CA2429023934 | BMP15 | c.25A= (p.Ile9=) | |
| X | g.50910808A>C | CA413197014 | BMP15 | c.25A>C (p.Ile9Leu) | |
| X | g.50910808A>G | CA413197015 | BMP15 | c.25A>G (p.Ile9Val) | |
| X | g.50910808A>T | CA413197016 | BMP15 | c.25A>T (p.Ile9Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910809T>A | CA413197017 | BMP15 | c.26T>A (p.Ile9Asn) | |
| X | g.50910809T>C | CA413197018 | BMP15 | c.26T>C (p.Ile9Thr) | |
| X | g.50910809T>G | CA413197019 | BMP15 | c.26T>G (p.Ile9Ser) | |
| X | g.50910810T>A | CA516680237 | BMP15 | c.27T>A (p.Ile9=) | dbSNP |
| X | g.50910810T>C | CA516680238 | BMP15 | c.27T>C (p.Ile9=) | |
| X | g.50910810T>G | CA413197020 | BMP15 | c.27T>G (p.Ile9Met) | |
| X | g.50910810T= | CA2429023935 | BMP15 | c.27T= (p.Ile9=) | |
| X | g.50910811C>A | CA10416475 | BMP15 | c.28C>A (p.Leu10Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910811C= | CA2429023936 | BMP15 | c.28C= (p.Leu10=) | |
| X | g.50910811C>G | CA413197021 | BMP15 | c.28C>G (p.Leu10Val) | |
| X | g.50910811C>T | CA413197022 | BMP15 | c.28C>T (p.Leu10Phe) | |
| X | g.50910812T>A | CA413197024 | BMP15 | c.29T>A (p.Leu10His) | |
| X | g.50910812T>C | CA413197025 | BMP15 | c.29T>C (p.Leu10Pro) | |
| X | g.50910812T>G | CA413197023 | BMP15 | c.29T>G (p.Leu10Arg) | COSMIC |
| X | g.50910813T>A | CA516680243 | BMP15 | c.30T>A (p.Leu10=) | |
| X | g.50910813T>C | CA516680244 | BMP15 | c.30T>C (p.Leu10=) | |
| X | g.50910813T>G | CA516680245 | BMP15 | c.30T>G (p.Leu10=) | |
| X | g.50910814T>A | CA413197026 | BMP15 | c.31T>A (p.Phe11Ile) | |
| X | g.50910814T>C | CA413197027 | BMP15 | c.31T>C (p.Phe11Leu) | gnomAD v4 |
| X | g.50910814T>G | CA413197028 | BMP15 | c.31T>G (p.Phe11Val) | |
| X | g.50910815T>A | CA413197029 | BMP15 | c.32T>A (p.Phe11Tyr) | |
| X | g.50910815T>C | CA413197030 | BMP15 | c.32T>C (p.Phe11Ser) | |
| X | g.50910815T>G | CA413197031 | BMP15 | c.32T>G (p.Phe11Cys) | |
| X | g.50910816T>A | CA413197032 | BMP15 | c.33T>A (p.Phe11Leu) | |
| X | g.50910816T>C | CA10416476 | BMP15 | c.33T>C (p.Phe11=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910816T>G | CA413197033 | BMP15 | c.33T>G (p.Phe11Leu) | |
| X | g.50910816T= | CA2429023937 | BMP15 | c.33T= (p.Phe11=) | |
| X | g.50910817C>A | CA413197034 | BMP15 | c.34C>A (p.Leu12Ile) | |
| X | g.50910817C= | CA2429023938 | BMP15 | c.34C= (p.Leu12=) | |
| X | g.50910817C>G | CA413197035 | BMP15 | c.34C>G (p.Leu12Val) | |
| X | g.50910817C>T | CA413197036 | BMP15 | c.34C>T (p.Leu12Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910818T>A | CA413197038 | BMP15 | c.35T>A (p.Leu12His) | gnomAD v4 |
| X | g.50910818T>C | CA413197039 | BMP15 | c.35T>C (p.Leu12Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910818T>G | CA413197037 | BMP15 | c.35T>G (p.Leu12Arg) | dbSNP |
| X | g.50910818T= | CA2429023939 | BMP15 | c.35T= (p.Leu12=) | |
| X | g.50910819T>A | CA516680254 | BMP15 | c.36T>A (p.Leu12=) | |
| X | g.50910819T>C | CA516680256 | BMP15 | c.36T>C (p.Leu12=) | gnomAD v4 |
| X | g.50910819T>G | CA516680258 | BMP15 | c.36T>G (p.Leu12=) | |
| X | g.50910820T>A | CA413197040 | BMP15 | c.37T>A (p.Cys13Ser) | |
| X | g.50910820T>C | CA413197041 | BMP15 | c.37T>C (p.Cys13Arg) | |
| X | g.50910820T>G | CA413197042 | BMP15 | c.37T>G (p.Cys13Gly) | |
| X | g.50910821G>A | CA10416477 | BMP15 | c.38G>A (p.Cys13Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910821G>C | CA413197043 | BMP15 | c.38G>C (p.Cys13Ser) | |
| X | g.50910821G= | CA2429023940 | BMP15 | c.38G= (p.Cys13=) | |
| X | g.50910821G>T | CA413197044 | BMP15 | c.38G>T (p.Cys13Phe) | |
| X | g.50910822T>A | CA413197045 | BMP15 | c.39T>A (p.Cys13Ter) | |
| X | g.50910822T>C | CA516680261 | BMP15 | c.39T>C (p.Cys13=) | |
| X | g.50910822T>G | CA413197046 | BMP15 | c.39T>G (p.Cys13Trp) | |
| X | g.50910822_50910823delinsTG | CA2429023941 | BMP15 | c.39_40delinsTG (p.Cys13=) | |
| X | g.50910823del | CA876101133 | BMP15 | c.40del (p.Glu14AsnfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910823G>A | CA413197047 | BMP15 | c.40G>A (p.Glu14Lys) | |
| X | g.50910823G>C | CA413197048 | BMP15 | c.40G>C (p.Glu14Gln) | |
| X | g.50910823G>T | CA413197049 | BMP15 | c.40G>T (p.Glu14Ter) | gnomAD v4 |
| X | g.50910824A>C | CA413197050 | BMP15 | c.41A>C (p.Glu14Ala) | |
| X | g.50910824A>G | CA413197051 | BMP15 | c.41A>G (p.Glu14Gly) | |
| X | g.50910824A>T | CA413197052 | BMP15 | c.41A>T (p.Glu14Val) | |
| X | g.50910825A= | CA2429023942 | BMP15 | c.42A= (p.Glu14=) | |
| X | g.50910825A>C | CA413197054 | BMP15 | c.42A>C (p.Glu14Asp) | |
| X | g.50910825A>G | CA516680267 | BMP15 | c.42A>G (p.Glu14=) | |
| X | g.50910825A>T | CA413197053 | BMP15 | c.42A>T (p.Glu14Asp) | dbSNP |
| X | g.50910826C>A | CA413197055 | BMP15 | c.43C>A (p.Leu15Ile) | |
| X | g.50910826C>G | CA413197057 | BMP15 | c.43C>G (p.Leu15Val) | |
| X | g.50910826C>T | CA413197056 | BMP15 | c.43C>T (p.Leu15Phe) | gnomAD v4 |
| X | g.50910827T>A | CA413197058 | BMP15 | c.44T>A (p.Leu15His) | |
| X | g.50910827T>C | CA413197059 | BMP15 | c.44T>C (p.Leu15Pro) | |
| X | g.50910827T>G | CA413197060 | BMP15 | c.44T>G (p.Leu15Arg) | |
| X | g.50910828C>A | CA516680271 | BMP15 | c.45C>A (p.Leu15=) | |
| X | g.50910828C= | CA2429023943 | BMP15 | c.45C= (p.Leu15=) | |
| X | g.50910828C>G | CA516680272 | BMP15 | c.45C>G (p.Leu15=) | |
| X | g.50910828C>T | CA329809481 | BMP15 | c.45C>T (p.Leu15=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910829G>A | CA10416478 | BMP15 | c.46G>A (p.Val16Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910829G>C | CA413197061 | BMP15 | c.46G>C (p.Val16Leu) | |
| X | g.50910829G= | CA2429023944 | BMP15 | c.46G= (p.Val16=) | |
| X | g.50910829G>T | CA10416479 | BMP15 | c.46G>T (p.Val16Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910830T>A | CA413197062 | BMP15 | c.47T>A (p.Val16Glu) | |
| X | g.50910830T>C | CA413197063 | BMP15 | c.47T>C (p.Val16Ala) | |
| X | g.50910830T>G | CA413197064 | BMP15 | c.47T>G (p.Val16Gly) | |
| X | g.50910831G>A | CA516680275 | BMP15 | c.48G>A (p.Val16=) | |
| X | g.50910831G>C | CA516680279 | BMP15 | c.48G>C (p.Val16=) | |
| X | g.50910831G>T | CA516680277 | BMP15 | c.48G>T (p.Val16=) | |
| X | g.50910832C>A | CA413197065 | BMP15 | c.49C>A (p.Leu17Ile) | gnomAD v4 |
| X | g.50910832C= | CA2429023945 | BMP15 | c.49C= (p.Leu17=) | |
| X | g.50910832C>G | CA413197066 | BMP15 | c.49C>G (p.Leu17Val) | |
| X | g.50910832C>T | CA10416480 | BMP15 | c.49C>T (p.Leu17Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910833T>A | CA413197069 | BMP15 | c.50T>A (p.Leu17His) | |
| X | g.50910833T>C | CA413197067 | BMP15 | c.50T>C (p.Leu17Pro) | |
| X | g.50910833T>G | CA413197068 | BMP15 | c.50T>G (p.Leu17Arg) | |
| X | g.50910834T>A | CA516680284 | BMP15 | c.51T>A (p.Leu17=) | |
| X | g.50910834T>C | CA516680285 | BMP15 | c.51T>C (p.Leu17=) | |
| X | g.50910834T>G | CA516680287 | BMP15 | c.51T>G (p.Leu17=) | |
| X | g.50910835T>A | CA413197070 | BMP15 | c.52T>A (p.Phe18Ile) | |
| X | g.50910835T>C | CA329809482 | BMP15 | c.52T>C (p.Phe18Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910835T>G | CA413197071 | BMP15 | c.52T>G (p.Phe18Val) | |
| X | g.50910835T= | CA2429023946 | BMP15 | c.52T= (p.Phe18=) | |
| X | g.50910836T>A | CA329809483 | BMP15 | c.53T>A (p.Phe18Tyr) | dbSNP gnomAD v2 |
| X | g.50910836T>C | CA413197072 | BMP15 | c.53T>C (p.Phe18Ser) | |
| X | g.50910836T>G | CA413197073 | BMP15 | c.53T>G (p.Phe18Cys) | |
| X | g.50910836T= | CA2429023947 | BMP15 | c.53T= (p.Phe18=) | |
| X | g.50910837C>A | CA413197074 | BMP15 | c.54C>A (p.Phe18Leu) | |
| X | g.50910837C>G | CA413197075 | BMP15 | c.54C>G (p.Phe18Leu) | |
| X | g.50910837C>T | CA516680294 | BMP15 | c.54C>T (p.Phe18=) | COSMIC |
| X | g.50910838A>C | CA413197076 | BMP15 | c.55A>C (p.Met19Leu) | |
| X | g.50910838A>G | CA413197077 | BMP15 | c.55A>G (p.Met19Val) | |
| X | g.50910838A>T | CA413197078 | BMP15 | c.55A>T (p.Met19Leu) | |
| X | g.50910839T>A | CA413197080 | BMP15 | c.56T>A (p.Met19Lys) | gnomAD v4 |
| X | g.50910839T>C | CA10416481 | BMP15 | c.56T>C (p.Met19Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910839T>G | CA413197079 | BMP15 | c.56T>G (p.Met19Arg) | |
| X | g.50910839T= | CA2429023948 | BMP15 | c.56T= (p.Met19=) | |
| X | g.50910840G>A | CA413197083 | BMP15 | c.57G>A (p.Met19Ile) | |
| X | g.50910840G>C | CA413197081 | BMP15 | c.57G>C (p.Met19Ile) | |
| X | g.50910840G= | CA2429023949 | BMP15 | c.57G= (p.Met19=) | |
| X | g.50910840G>T | CA413197082 | BMP15 | c.57G>T (p.Met19Ile) | dbSNP gnomAD v2 |
| X | g.50910841G>A | CA413197084 | BMP15 | c.58G>A (p.Glu20Lys) | |
| X | g.50910841G>C | CA413197085 | BMP15 | c.58G>C (p.Glu20Gln) | |
| X | g.50910841G>T | CA413197086 | BMP15 | c.58G>T (p.Glu20Ter) | |
| X | g.50910842A= | CA2429023950 | BMP15 | c.59A= (p.Glu20=) | |
| X | g.50910842A>C | CA413197087 | BMP15 | c.59A>C (p.Glu20Ala) | |
| X | g.50910842A>G | CA10416482 | BMP15 | c.59A>G (p.Glu20Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910842A>T | CA413197088 | BMP15 | c.59A>T (p.Glu20Val) | |
| X | g.50910843A>C | CA413197089 | BMP15 | c.60A>C (p.Glu20Asp) | |
| X | g.50910843A>G | CA516680301 | BMP15 | c.60A>G (p.Glu20=) | |
| X | g.50910843A>T | CA413197090 | BMP15 | c.60A>T (p.Glu20Asp) | |
| X | g.50910844C>A | CA413197091 | BMP15 | c.61C>A (p.His21Asn) | |
| X | g.50910844C>G | CA413197092 | BMP15 | c.61C>G (p.His21Asp) | |
| X | g.50910844C>T | CA413197093 | BMP15 | c.61C>T (p.His21Tyr) | |
| X | g.50910845A>C | CA413197096 | BMP15 | c.62A>C (p.His21Pro) | |
| X | g.50910845A>G | CA413197094 | BMP15 | c.62A>G (p.His21Arg) | |
| X | g.50910845A>T | CA413197095 | BMP15 | c.62A>T (p.His21Leu) | |
| X | g.50910846C>A | CA413197097 | BMP15 | c.63C>A (p.His21Gln) | |
| X | g.50910846C>G | CA413197098 | BMP15 | c.63C>G (p.His21Gln) | |
| X | g.50910846C>T | CA516680307 | BMP15 | c.63C>T (p.His21=) | |
| X | g.50910847A= | CA2429023951 | BMP15 | c.64A= (p.Arg22=) | |
| X | g.50910847A>C | CA10416484 | BMP15 | c.64A>C (p.Arg22=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910847A>G | CA10416483 | BMP15 | c.64A>G (p.Arg22Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50910847A>T | CA413197099 | BMP15 | c.64A>T (p.Arg22Trp) | |
| X | g.50910848G>A | CA413197100 | BMP15 | c.65G>A (p.Arg22Lys) | |
| X | g.50910848G>C | CA413197101 | BMP15 | c.65G>C (p.Arg22Thr) | |
| X | g.50910848G>T | CA413197102 | BMP15 | c.65G>T (p.Arg22Met) | gnomAD v4 |
| X | g.50910849G>A | CA516680312 | BMP15 | c.66G>A (p.Arg22=) | gnomAD v4 |
| X | g.50910849G>C | CA413197103 | BMP15 | c.66G>C (p.Arg22Ser) | |
| X | g.50910849G= | CA2429023952 | BMP15 | c.66G= (p.Arg22=) | |
| X | g.50910849G>T | CA413197104 | BMP15 | c.66G>T (p.Arg22Ser) | dbSNP gnomAD v2 |
| X | g.50910850G>A | CA413197105 | BMP15 | c.67G>A (p.Ala23Thr) | |
| X | g.50910850G>C | CA413197106 | BMP15 | c.67G>C (p.Ala23Pro) | |
| X | g.50910850G>T | CA413197107 | BMP15 | c.67G>T (p.Ala23Ser) | |
| X | g.50910851C>A | CA413197110 | BMP15 | c.68C>A (p.Ala23Asp) | gnomAD v4 |
| X | g.50910851C= | CA2429023953 | BMP15 | c.68C= (p.Ala23=) | |
| X | g.50910851C>G | CA413197109 | BMP15 | c.68C>G (p.Ala23Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910851C>T | CA413197108 | BMP15 | c.68C>T (p.Ala23Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910852C>A | CA516680316 | BMP15 | c.69C>A (p.Ala23=) | gnomAD v4 |
| X | g.50910852C= | CA2429023954 | BMP15 | c.69C= (p.Ala23=) | |
| X | g.50910852C>G | CA516680318 | BMP15 | c.69C>G (p.Ala23=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910852C>T | CA516680317 | BMP15 | c.69C>T (p.Ala23=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910853C>A | CA413197111 | BMP15 | c.70C>A (p.Gln24Lys) | |
| X | g.50910853C>G | CA413197112 | BMP15 | c.70C>G (p.Gln24Glu) | gnomAD v4 |
| X | g.50910853C>T | CA413197113 | BMP15 | c.70C>T (p.Gln24Ter) | |
| X | g.50910854A= | CA2429023955 | BMP15 | c.71A= (p.Gln24=) | |
| X | g.50910854A>C | CA413197114 | BMP15 | c.71A>C (p.Gln24Pro) | |
| X | g.50910854A>G | CA413197115 | BMP15 | c.71A>G (p.Gln24Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910854A>T | CA413197116 | BMP15 | c.71A>T (p.Gln24Leu) | |
| X | g.50910855A= | CA2429023956 | BMP15 | c.72A= (p.Gln24=) | |
| X | g.50910855A>C | CA413197117 | BMP15 | c.72A>C (p.Gln24His) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910855A>G | CA516680323 | BMP15 | c.72A>G (p.Gln24=) | |
| X | g.50910855A>T | CA413197118 | BMP15 | c.72A>T (p.Gln24His) | |
| X | g.50910856A>C | CA413197119 | BMP15 | c.73A>C (p.Met25Leu) | |
| X | g.50910856A>G | CA413197120 | BMP15 | c.73A>G (p.Met25Val) | |
| X | g.50910856A>T | CA413197121 | BMP15 | c.73A>T (p.Met25Leu) | |
| X | g.50910857T>A | CA10416485 | BMP15 | c.74T>A (p.Met25Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910857T>C | CA413197122 | BMP15 | c.74T>C (p.Met25Thr) | |
| X | g.50910857T>G | CA413197123 | BMP15 | c.74T>G (p.Met25Arg) | |
| X | g.50910857T= | CA2429023957 | BMP15 | c.74T= (p.Met25=) | |
| X | g.50910858G>A | CA413197126 | BMP15 | c.75G>A (p.Met25Ile) | gnomAD v4 |
| X | g.50910858G>C | CA413197125 | BMP15 | c.75G>C (p.Met25Ile) | |
| X | g.50910858G>T | CA413197124 | BMP15 | c.75G>T (p.Met25Ile) | |
| X | g.50910859G>A | CA413197127 | BMP15 | c.76G>A (p.Ala26Thr) | |
| X | g.50910859G>C | CA413197128 | BMP15 | c.76G>C (p.Ala26Pro) | |
| X | g.50910859G= | CA2429023958 | BMP15 | c.76G= (p.Ala26=) | |
| X | g.50910859G>T | CA413197129 | BMP15 | c.76G>T (p.Ala26Ser) | dbSNP |
| X | g.50910860C>A | CA413197130 | BMP15 | c.77C>A (p.Ala26Glu) | |
| X | g.50910860C>G | CA413197131 | BMP15 | c.77C>G (p.Ala26Gly) | |
| X | g.50910860C>T | CA413197132 | BMP15 | c.77C>T (p.Ala26Val) | |
| X | g.50910861A>C | CA516680334 | BMP15 | c.78A>C (p.Ala26=) | |
| X | g.50910861A>G | CA516680332 | BMP15 | c.78A>G (p.Ala26=) | |
| X | g.50910861A>T | CA516680333 | BMP15 | c.78A>T (p.Ala26=) | dbSNP |
| X | g.50910862G>A | CA413197133 | BMP15 | c.79G>A (p.Glu27Lys) | |
| X | g.50910862G>C | CA413197134 | BMP15 | c.79G>C (p.Glu27Gln) | COSMIC |
| X | g.50910862G>T | CA413197135 | BMP15 | c.79G>T (p.Glu27Ter) | |
| X | g.50910863A= | CA2429023959 | BMP15 | c.80A= (p.Glu27=) | |
| X | g.50910863A>C | CA413197136 | BMP15 | c.80A>C (p.Glu27Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50910863A>G | CA413197137 | BMP15 | c.80A>G (p.Glu27Gly) | gnomAD v4 |
| X | g.50910863A>T | CA413197138 | BMP15 | c.80A>T (p.Glu27Val) | |
| X | g.50910864A>C | CA413197139 | BMP15 | c.81A>C (p.Glu27Asp) | |
| X | g.50910864A>G | CA516680338 | BMP15 | c.81A>G (p.Glu27=) | |
| X | g.50910864A>T | CA413197140 | BMP15 | c.81A>T (p.Glu27Asp) | |
| X | g.50910865G>A | CA413197142 | BMP15 | c.82G>A (p.Gly28Arg) | |
| X | g.50910865G>C | CA413197143 | BMP15 | c.82G>C (p.Gly28Arg) | |
| X | g.50910865G>T | CA413197141 | BMP15 | c.82G>T (p.Gly28Ter) | |
| X | g.50910866G>A | CA413197144 | BMP15 | c.83G>A (p.Gly28Glu) | |
| X | g.50910866G>C | CA413197145 | BMP15 | c.83G>C (p.Gly28Ala) | |
| X | g.50910866G>T | CA413197146 | BMP15 | c.83G>T (p.Gly28Val) | |
| X | g.50910867A>C | CA516680342 | BMP15 | c.84A>C (p.Gly28=) | |
| X | g.50910867A>G | CA516680344 | BMP15 | c.84A>G (p.Gly28=) | |
| X | g.50910867A>T | CA516680346 | BMP15 | c.84A>T (p.Gly28=) | |
| X | g.50910868G>A | CA10416486 | BMP15 | c.85G>A (p.Gly29Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910868G>C | CA413197147 | BMP15 | c.85G>C (p.Gly29Arg) | dbSNP gnomAD v4 |
| X | g.50910868G= | CA2429023960 | BMP15 | c.85G= (p.Gly29=) | |
| X | g.50910868G>T | CA413197148 | BMP15 | c.85G>T (p.Gly29Trp) | |
| X | g.50910870del | CA2693751392 | BMP15 | c.87del (p.Gln30SerfsTer15) | gnomAD v4 |
| X | g.50910869G>A | CA413197149 | BMP15 | c.86G>A (p.Gly29Glu) | COSMIC |
| X | g.50910869G>C | CA413197150 | BMP15 | c.86G>C (p.Gly29Ala) | |
| X | g.50910869G>T | CA413197151 | BMP15 | c.86G>T (p.Gly29Val) | |
| X | g.50910870G>A | CA516680347 | BMP15 | c.87G>A (p.Gly29=) | gnomAD v4 |
| X | g.50910870G>C | CA516680349 | BMP15 | c.87G>C (p.Gly29=) | |
| X | g.50910870G>T | CA516680352 | BMP15 | c.87G>T (p.Gly29=) | |
| X | g.50910871C>A | CA413197152 | BMP15 | c.88C>A (p.Gln30Lys) | |
| X | g.50910871C>G | CA413197153 | BMP15 | c.88C>G (p.Gln30Glu) | |
| X | g.50910871C>T | CA413197154 | BMP15 | c.88C>T (p.Gln30Ter) | |
| X | g.50910872A>C | CA413197157 | BMP15 | c.89A>C (p.Gln30Pro) | |
| X | g.50910872A>G | CA413197156 | BMP15 | c.89A>G (p.Gln30Arg) | |
| X | g.50910872A>T | CA413197155 | BMP15 | c.89A>T (p.Gln30Leu) | |
| X | g.50910873G>A | CA516680355 | BMP15 | c.90G>A (p.Gln30=) | |
| X | g.50910873G>C | CA413197158 | BMP15 | c.90G>C (p.Gln30His) | |
| X | g.50910873G>T | CA413197159 | BMP15 | c.90G>T (p.Gln30His) | |
| X | g.50910874T>A | CA413197160 | BMP15 | c.91T>A (p.Ser31Thr) | |
| X | g.50910874T>C | CA413197161 | BMP15 | c.91T>C (p.Ser31Pro) | gnomAD v4 |
| X | g.50910874T>G | CA413197162 | BMP15 | c.91T>G (p.Ser31Ala) | |
| X | g.50910875C>A | CA413197163 | BMP15 | c.92C>A (p.Ser31Tyr) | |
| X | g.50910875C>G | CA413197164 | BMP15 | c.92C>G (p.Ser31Cys) | |
| X | g.50910875C>T | CA413197165 | BMP15 | c.92C>T (p.Ser31Phe) | gnomAD v4 |
| X | g.50910876C>A | CA516680362 | BMP15 | c.93C>A (p.Ser31=) | |
| X | g.50910876C= | CA2429023961 | BMP15 | c.93C= (p.Ser31=) | |
| X | g.50910876C>G | CA516680364 | BMP15 | c.93C>G (p.Ser31=) | |
| X | g.50910876C>T | CA10416487 | BMP15 | c.93C>T (p.Ser31=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910877T>A | CA413197166 | BMP15 | c.94T>A (p.Ser32Thr) | |
| X | g.50910877T>C | CA413197167 | BMP15 | c.94T>C (p.Ser32Pro) | |
| X | g.50910877T>G | CA413197168 | BMP15 | c.94T>G (p.Ser32Ala) | |
| X | g.50910878C>A | CA413197169 | BMP15 | c.95C>A (p.Ser32Tyr) | gnomAD v4 |
| X | g.50910878C>G | CA413197171 | BMP15 | c.95C>G (p.Ser32Cys) | gnomAD v4 |
| X | g.50910878C>T | CA413197170 | BMP15 | c.95C>T (p.Ser32Phe) | |
| X | g.50910879T>A | CA516680371 | BMP15 | c.96T>A (p.Ser32=) | |
| X | g.50910879T>C | CA516680372 | BMP15 | c.96T>C (p.Ser32=) | |
| X | g.50910879T>G | CA516680373 | BMP15 | c.96T>G (p.Ser32=) | |
| X | g.50910880A>C | CA413197172 | BMP15 | c.97A>C (p.Ile33Leu) | |
| X | g.50910880A>G | CA413197174 | BMP15 | c.97A>G (p.Ile33Val) | |
| X | g.50910880A>T | CA413197173 | BMP15 | c.97A>T (p.Ile33Phe) | |
| X | g.50910881T>A | CA413197175 | BMP15 | c.98T>A (p.Ile33Asn) | |
| X | g.50910881T>C | CA413197177 | BMP15 | c.98T>C (p.Ile33Thr) | |
| X | g.50910881T>G | CA413197176 | BMP15 | c.98T>G (p.Ile33Ser) | |
| X | g.50910882T>A | CA516680377 | BMP15 | c.99T>A (p.Ile33=) | |
| X | g.50910882T>C | CA516680376 | BMP15 | c.99T>C (p.Ile33=) | |
| X | g.50910882T>G | CA413197178 | BMP15 | c.99T>G (p.Ile33Met) | |
| X | g.50910883G>A | CA413197181 | BMP15 | c.100G>A (p.Ala34Thr) | |
| X | g.50910883G>C | CA413197179 | BMP15 | c.100G>C (p.Ala34Pro) | |
| X | g.50910883G>T | CA413197180 | BMP15 | c.100G>T (p.Ala34Ser) | |
| X | g.50910884C>A | CA413197182 | BMP15 | c.101C>A (p.Ala34Asp) | gnomAD v4 |
| X | g.50910884C>G | CA413197183 | BMP15 | c.101C>G (p.Ala34Gly) | |
| X | g.50910884C>T | CA413197184 | BMP15 | c.101C>T (p.Ala34Val) | |
| X | g.50910885C>A | CA516680379 | BMP15 | c.102C>A (p.Ala34=) | gnomAD v4 |
| X | g.50910885C>G | CA516680380 | BMP15 | c.102C>G (p.Ala34=) | |
| X | g.50910885C>T | CA516680382 | BMP15 | c.102C>T (p.Ala34=) | |
| X | g.50910886C>A | CA413197185 | BMP15 | c.103C>A (p.Leu35Ile) | gnomAD v4 |
| X | g.50910886C= | CA2429023962 | BMP15 | c.103C= (p.Leu35=) | |
| X | g.50910886C>G | CA413197186 | BMP15 | c.103C>G (p.Leu35Val) | |
| X | g.50910886C>T | CA413197187 | BMP15 | c.103C>T (p.Leu35Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50910887T>A | CA413197188 | BMP15 | c.104T>A (p.Leu35His) | |
| X | g.50910887T>C | CA413197189 | BMP15 | c.104T>C (p.Leu35Pro) | |
| X | g.50910887T>G | CA413197190 | BMP15 | c.104T>G (p.Leu35Arg) | |
| X | g.50910888T>A | CA516680391 | BMP15 | c.105T>A (p.Leu35=) | |
| X | g.50910888T>C | CA516680390 | BMP15 | c.105T>C (p.Leu35=) | |
| X | g.50910888T>G | CA516680392 | BMP15 | c.105T>G (p.Leu35=) | |
| X | g.50910889C>A | CA413197192 | BMP15 | c.106C>A (p.Leu36Met) | |
| X | g.50910889C>G | CA413197191 | BMP15 | c.106C>G (p.Leu36Val) | |
| X | g.50910889C>T | CA516680395 | BMP15 | c.106C>T (p.Leu36=) | |
| X | g.50910890T>A | CA413197193 | BMP15 | c.107T>A (p.Leu36Gln) | |
| X | g.50910890T>C | CA413197194 | BMP15 | c.107T>C (p.Leu36Pro) | |
| X | g.50910890T>G | CA413197195 | BMP15 | c.107T>G (p.Leu36Arg) | |
| X | g.50910891G>A | CA516680404 | BMP15 | c.108G>A (p.Leu36=) | |
| X | g.50910891G>C | CA516680403 | BMP15 | c.108G>C (p.Leu36=) | |
| X | g.50910891G>T | CA516680402 | BMP15 | c.108G>T (p.Leu36=) | |
| X | g.50910892G>A | CA413197196 | BMP15 | c.109G>A (p.Ala37Thr) | |
| X | g.50910892G>C | CA10416488 | BMP15 | c.109G>C (p.Ala37Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50910892G= | CA2429023963 | BMP15 | c.109G= (p.Ala37=) | |
| X | g.50910892G>T | CA413197197 | BMP15 | c.109G>T (p.Ala37Ser) |