Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43755620C>A | CA290857084 | SOST | c.364G>T (p.Gly122Cys) | dbSNP gnomAD v4 |
17 | g.43755620C= | CA2261069236 | SOST | c.364G= (p.Gly122=) | |
17 | g.43755620C>G | CA399702053 | SOST | c.364G>C (p.Gly122Arg) | gnomAD v4 |
17 | g.43755620C>T | CA399702055 | SOST | c.364G>A (p.Gly122Ser) | gnomAD v4 |
17 | g.43755621G>A | CA500234788 | SOST | c.363C>T (p.Arg121=) | gnomAD v4 |
17 | g.43755621G>C | CA500234789 | SOST | c.363C>G (p.Arg121=) | |
17 | g.43755621G>T | CA500234790 | SOST | c.363C>A (p.Arg121=) | gnomAD v4 |
17 | g.43755622C>A | CA399702056 | SOST | c.362G>T (p.Arg121Leu) | gnomAD v4 |
17 | g.43755622C= | CA2261069237 | SOST | c.362G= (p.Arg121=) | |
17 | g.43755622C>G | CA399702058 | SOST | c.362G>C (p.Arg121Pro) | gnomAD v4 |
17 | g.43755622C>T | CA399702060 | SOST | c.362G>A (p.Arg121His) | dbSNP gnomAD v4 |
17 | g.43755623G>A | CA399702062 | SOST | c.361C>T (p.Arg121Cys) | gnomAD v4 |
17 | g.43755623G>C | CA399702065 | SOST | c.361C>G (p.Arg121Gly) | gnomAD v4 |
17 | g.43755623G= | CA2261069238 | SOST | c.361C= (p.Arg121=) | |
17 | g.43755623G>T | CA399702063 | SOST | c.361C>A (p.Arg121Ser) | dbSNP gnomAD v4 |
17 | g.43755624G>A | CA500234793 | SOST | c.360C>T (p.Gly120=) | gnomAD v4 |
17 | g.43755624G>C | CA500234791 | SOST | c.360C>G (p.Gly120=) | |
17 | g.43755624G>T | CA500234792 | SOST | c.360C>A (p.Gly120=) | gnomAD v4 |
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 |