Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.50910735_50916641del | CA1139667543 | BMP15 | c.-49_*34del | ClinVar |
X | g.50915966del | CA2693751509 | BMP15 | c.538del (p.Ala180LeufsTer?) | gnomAD v4 |
X | g.50915966G>A | CA121502 | BMP15 | c.538G>A (p.Ala180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50915966G>C | CA413198122 | BMP15 | c.538G>C (p.Ala180Pro) | |
X | g.50915966G= | CA2429025796 | BMP15 | c.538G= (p.Ala180=) | |
X | g.50915966G>T | CA10416556 | BMP15 | c.538G>T (p.Ala180Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50915966_50915967delinsTT | CA2695233918 | BMP15 | c.538_539delinsTT (p.Ala180Phe) | |
X | g.50915967C>A | CA413198123 | BMP15 | c.539C>A (p.Ala180Asp) | |
X | g.50915967C= | CA2429025797 | BMP15 | c.539C= (p.Ala180=) | |
X | g.50915967C>G | CA413198124 | BMP15 | c.539C>G (p.Ala180Gly) | |
X | g.50915967C>T | CA10416557 | BMP15 | c.539C>T (p.Ala180Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.50915968T>A | CA516681377 | BMP15 | c.540T>A (p.Ala180=) | |
X | g.50915968T>C | CA516681376 | BMP15 | c.540T>C (p.Ala180=) | |
X | g.50915968T>G | CA516681375 | BMP15 | c.540T>G (p.Ala180=) | |
X | g.50915969T>A | CA413198125 | BMP15 | c.541T>A (p.Trp181Arg) | |
X | g.50915969T>C | CA413198126 | BMP15 | c.541T>C (p.Trp181Arg) | |
X | g.50915969T>G | CA413198127 | BMP15 | c.541T>G (p.Trp181Gly) | |
X | g.50915970G>A | CA413198128 | BMP15 | c.542G>A (p.Trp181Ter) | gnomAD v4 |
X | g.50915970G>C | CA10416558 | BMP15 | c.542G>C (p.Trp181Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.50915970G= | CA2429025798 | BMP15 | c.542G= (p.Trp181=) | |
X | g.50915970G>T | CA413198129 | BMP15 | c.542G>T (p.Trp181Leu) | |
X | g.50915971G>A | CA413198130 | BMP15 | c.543G>A (p.Trp181Ter) | dbSNP gnomAD v2 gnomAD v4 |
X | g.50915971G>C | CA413198131 | BMP15 | c.543G>C (p.Trp181Cys) | gnomAD v4 |
X | g.50915971G= | CA2429025799 | BMP15 | c.543G= (p.Trp181=) | |
X | g.50915971G>T | CA413198132 | BMP15 | c.543G>T (p.Trp181Cys) | |
X | g.50915972A>C | CA413198133 | BMP15 | c.544A>C (p.Lys182Gln) | |
X | g.50915972A>G | CA413198134 | BMP15 | c.544A>G (p.Lys182Glu) | |
X | g.50915972A>T | CA413198135 | BMP15 | c.544A>T (p.Lys182Ter) | |
X | g.50915973A>C | CA413198136 | BMP15 | c.545A>C (p.Lys182Thr) | |
X | g.50915973A>G | CA413198137 | BMP15 | c.545A>G (p.Lys182Arg) | |
X | g.50915973A>T | CA413198138 | BMP15 | c.545A>T (p.Lys182Ile) | |
X | g.50915974A>C | CA413198139 | BMP15 | c.546A>C (p.Lys182Asn) | |
X | g.50915974A>G | CA516681388 | BMP15 | c.546A>G (p.Lys182=) | |
X | g.50915974A>T | CA413198140 | BMP15 | c.546A>T (p.Lys182Asn) | |
X | g.50915975G>A | CA413198143 | BMP15 | c.547G>A (p.Glu183Lys) | |
X | g.50915975G>C | CA413198142 | BMP15 | c.547G>C (p.Glu183Gln) | dbSNP |
X | g.50915975G= | CA2429025800 | BMP15 | c.547G= (p.Glu183=) | |
X | g.50915975G>T | CA413198141 | BMP15 | c.547G>T (p.Glu183Ter) | gnomAD v4 |
X | g.50915976A>C | CA413198144 | BMP15 | c.548A>C (p.Glu183Ala) | |
X | g.50915976A>G | CA413198146 | BMP15 | c.548A>G (p.Glu183Gly) | |
X | g.50915976A>T | CA413198145 | BMP15 | c.548A>T (p.Glu183Val) | |
X | g.50915977G>A | CA516681392 | BMP15 | c.549G>A (p.Glu183=) | |
X | g.50915977G>C | CA413198147 | BMP15 | c.549G>C (p.Glu183Asp) | |
X | g.50915977G>T | CA413198148 | BMP15 | c.549G>T (p.Glu183Asp) | COSMIC |
X | g.50915978A>C | CA413198149 | BMP15 | c.550A>C (p.Met184Leu) | |
X | g.50915978A>G | CA413198150 | BMP15 | c.550A>G (p.Met184Val) | gnomAD v4 |
X | g.50915978A>T | CA413198151 | BMP15 | c.550A>T (p.Met184Leu) | gnomAD v4 |
X | g.50915979T>A | CA413198152 | BMP15 | c.551T>A (p.Met184Lys) | |
X | g.50915979T>C | CA413198153 | BMP15 | c.551T>C (p.Met184Thr) | |
X | g.50915979T>G | CA413198154 | BMP15 | c.551T>G (p.Met184Arg) |