Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43755625C>A | CA399702067 | SOST | c.359G>T (p.Gly120Val) | gnomAD v4 |
17 | g.43755625C= | CA2261069239 | SOST | c.359G= (p.Gly120=) | |
17 | g.43755625C>G | CA399702070 | SOST | c.359G>C (p.Gly120Ala) | |
17 | g.43755625C>T | CA399702069 | SOST | c.359G>A (p.Gly120Asp) | gnomAD v4 |
17 | g.43755626C>A | CA399702072 | SOST | c.358G>T (p.Gly120Cys) | gnomAD v4 |
17 | g.43755626C= | CA2261069240 | SOST | c.358G= (p.Gly120=) | |
17 | g.43755626C>G | CA399702074 | SOST | c.358G>C (p.Gly120Arg) | |
17 | g.43755626C>T | CA8592803 | SOST | c.358G>A (p.Gly120Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755628_43755633dup | CA290857086 | SOST | c.353_358dup (p.Ile119_Gly120insAlaIle) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755627G>A | CA500234797 | SOST | c.357C>T (p.Ile119=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755627G>C | CA399702076 | SOST | c.357C>G (p.Ile119Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755627G= | CA2261069241 | SOST | c.357C= (p.Ile119=) | |
17 | g.43755627G>T | CA500234798 | SOST | c.357C>A (p.Ile119=) | gnomAD v4 |
17 | g.43755628A= | CA2261069242 | SOST | c.356T= (p.Ile119=) | |
17 | g.43755628A>C | CA8592804 | SOST | c.356T>G (p.Ile119Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755628A>G | CA399702078 | SOST | c.356T>C (p.Ile119Thr) | |
17 | g.43755628A>T | CA399702080 | SOST | c.356T>A (p.Ile119Asn) | |
17 | g.43755629T>A | CA399702082 | SOST | c.355A>T (p.Ile119Phe) | |
17 | g.43755629T>C | CA399702084 | SOST | c.355A>G (p.Ile119Val) | |
17 | g.43755629T>G | CA399702086 | SOST | c.355A>C (p.Ile119Leu) | |
17 | g.43755630G>A | CA500234800 | SOST | c.354C>T (p.Ala118=) | |
17 | g.43755630G>C | CA500234801 | SOST | c.354C>G (p.Ala118=) | |
17 | g.43755630G>T | CA500234802 | SOST | c.354C>A (p.Ala118=) | gnomAD v4 |
17 | g.43755631G>A | CA399702087 | SOST | c.353C>T (p.Ala118Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755631G>C | CA399702089 | SOST | c.353C>G (p.Ala118Gly) | |
17 | g.43755631G= | CA2261069243 | SOST | c.353C= (p.Ala118=) | |
17 | g.43755631G>T | CA399702091 | SOST | c.353C>A (p.Ala118Asp) | gnomAD v4 |
17 | g.43755632C>A | CA399702092 | SOST | c.352G>T (p.Ala118Ser) | gnomAD v4 |
17 | g.43755632C= | CA2261069244 | SOST | c.352G= (p.Ala118=) | |
17 | g.43755632C>G | CA399702094 | SOST | c.352G>C (p.Ala118Pro) | |
17 | g.43755632C>T | CA8592805 | SOST | c.352G>A (p.Ala118Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43755633G>A | CA500234803 | SOST | c.351C>T (p.Asn117=) | gnomAD v4 |
17 | g.43755633G>C | CA399702098 | SOST | c.351C>G (p.Asn117Lys) | |
17 | g.43755633G= | CA2261069245 | SOST | c.351C= (p.Asn117=) | |
17 | g.43755633G>T | CA399702097 | SOST | c.351C>A (p.Asn117Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755634T>A | CA399702100 | SOST | c.350A>T (p.Asn117Ile) | |
17 | g.43755634T>C | CA290857101 | SOST | c.350A>G (p.Asn117Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755634T>G | CA399702102 | SOST | c.350A>C (p.Asn117Thr) | dbSNP |
17 | g.43755634T= | CA2261069246 | SOST | c.350A= (p.Asn117=) | |
17 | g.43755635T>A | CA399702104 | SOST | c.349A>T (p.Asn117Tyr) | |
17 | g.43755635T>C | CA399702105 | SOST | c.349A>G (p.Asn117Asp) | gnomAD v4 |
17 | g.43755635T>G | CA399702107 | SOST | c.349A>C (p.Asn117His) | |
17 | g.43755636G>A | CA500234808 | SOST | c.348C>T (p.Pro116=) | gnomAD v4 |
17 | g.43755636G>C | CA500234807 | SOST | c.348C>G (p.Pro116=) | |
17 | g.43755636G= | CA2261069247 | SOST | c.348C= (p.Pro116=) | |
17 | g.43755636G>T | CA290857104 | SOST | c.348C>A (p.Pro116=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755637G>A | CA399702110 | SOST | c.347C>T (p.Pro116Leu) | gnomAD v4 |
17 | g.43755637G>C | CA399702111 | SOST | c.347C>G (p.Pro116Arg) | |
17 | g.43755637G>T | CA399702112 | SOST | c.347C>A (p.Pro116His) | gnomAD v4 |
17 | g.43755638G>A | CA8592806 | SOST | c.346C>T (p.Pro116Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |