Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del | ClinVar |
X | g.50910774_50910775delinsGC | CA2429023922 | BMP15 | c.-10_-9delinsGC (n.-10_-9delinsGC) | |
X | g.50910775C>A | CA2579612631 | BMP15 | c.-9C>A (n.-9C>A) | gnomAD v4 |
X | g.50910775C= | CA2429023923 | BMP15 | c.-9C= (n.-9C=) | |
X | g.50910775C>G | CA289714 | BMP15 | c.-9C>G (n.-9C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910775C>T | CA2580610311 | BMP15 | c.-9C>T (n.-9C>T) | gnomAD v4 |
X | g.50910776del | CA329809479 | BMP15 | c.-8del (n.-8del) | dbSNP |
X | g.50910781A= | CA2429023924 | BMP15 | c.-3A= (n.-3A=) | |
X | g.50910781A>C | CA1133041986 | BMP15 | c.-3A>C (n.-3A>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910784A>C | CA413196964 | BMP15 | c.1A>C (p.Met1Leu) | |
X | g.50910784A>G | CA413196965 | BMP15 | c.1A>G (p.Met1Val) | |
X | g.50910784A>T | CA413196966 | BMP15 | c.1A>T (p.Met1Leu) | |
X | g.50910785T>A | CA413196969 | BMP15 | c.2T>A (p.Met1Lys) | gnomAD v4 |
X | g.50910785T>C | CA413196967 | BMP15 | c.2T>C (p.Met1Thr) | |
X | g.50910785T>G | CA413196968 | BMP15 | c.2T>G (p.Met1Arg) | |
X | g.50910786G>A | CA413196970 | BMP15 | c.3G>A (p.Met1Ile) | |
X | g.50910786G>C | CA413196971 | BMP15 | c.3G>C (p.Met1Ile) | |
X | g.50910786G>T | CA413196972 | BMP15 | c.3G>T (p.Met1Ile) | |
X | g.50910787dup | CA2579612632 | BMP15 | c.4dup (p.Val2GlyfsTer7) | |
X | g.50910787G>A | CA413196973 | BMP15 | c.4G>A (p.Val2Ile) | |
X | g.50910787G>C | CA413196974 | BMP15 | c.4G>C (p.Val2Leu) | |
X | g.50910787G>T | CA413196975 | BMP15 | c.4G>T (p.Val2Phe) | |
X | g.50910788T>A | CA413196978 | BMP15 | c.5T>A (p.Val2Asp) | gnomAD v4 |
X | g.50910788T>C | CA413196977 | BMP15 | c.5T>C (p.Val2Ala) | |
X | g.50910788T>G | CA413196976 | BMP15 | c.5T>G (p.Val2Gly) | |
X | g.50910789C>A | CA516680196 | BMP15 | c.6C>A (p.Val2=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50910789C= | CA2429023925 | BMP15 | c.6C= (p.Val2=) | |
X | g.50910789C>G | CA516680198 | BMP15 | c.6C>G (p.Val2=) | |
X | g.50910789C>T | CA516680199 | BMP15 | c.6C>T (p.Val2=) | gnomAD v4 |
X | g.50910790C>A | CA413196979 | BMP15 | c.7C>A (p.Leu3Ile) | |
X | g.50910790C= | CA2429023926 | BMP15 | c.7C= (p.Leu3=) | |
X | g.50910790C>G | CA413196980 | BMP15 | c.7C>G (p.Leu3Val) | |
X | g.50910790C>T | CA329809480 | BMP15 | c.7C>T (p.Leu3Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.50910791T>A | CA413196981 | BMP15 | c.8T>A (p.Leu3His) | |
X | g.50910791T>C | CA10416471 | BMP15 | c.8T>C (p.Leu3Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50910791T>G | CA413196982 | BMP15 | c.8T>G (p.Leu3Arg) | |
X | g.50910791T= | CA2429023927 | BMP15 | c.8T= (p.Leu3=) | |
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=) |