Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43755612C>A | CA399702029 | SOST | c.372G>T (p.Trp124Cys) | |
17 | g.43755612C= | CA2261069233 | SOST | c.372G= (p.Trp124=) | |
17 | g.43755612C>G | CA399702030 | SOST | c.372G>C (p.Trp124Cys) | |
17 | g.43755612C>T | CA253291 | SOST | c.372G>A (p.Trp124Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.43755613C>A | CA399702033 | SOST | c.371G>T (p.Trp124Leu) | gnomAD v4 |
17 | g.43755613C>G | CA399702031 | SOST | c.371G>C (p.Trp124Ser) | |
17 | g.43755613C>T | CA399702032 | SOST | c.371G>A (p.Trp124Ter) | ClinVar dbSNP |
17 | g.43755614A>C | CA399702034 | SOST | c.370T>G (p.Trp124Gly) | gnomAD v4 |
17 | g.43755614A>G | CA399702035 | SOST | c.370T>C (p.Trp124Arg) | gnomAD v4 |
17 | g.43755614A>T | CA399702036 | SOST | c.370T>A (p.Trp124Arg) | |
17 | g.43755615C>A | CA399702037 | SOST | c.369G>T (p.Lys123Asn) | gnomAD v4 |
17 | g.43755615C>G | CA399702038 | SOST | c.369G>C (p.Lys123Asn) | |
17 | g.43755615C>T | CA500234780 | SOST | c.369G>A (p.Lys123=) | gnomAD v4 |
17 | g.43755616T>A | CA399702039 | SOST | c.368A>T (p.Lys123Met) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755616T>C | CA399702041 | SOST | c.368A>G (p.Lys123Arg) | |
17 | g.43755616T>G | CA399702040 | SOST | c.368A>C (p.Lys123Thr) | |
17 | g.43755616T= | CA2261069234 | SOST | c.368A= (p.Lys123=) | |
17 | g.43755617T>A | CA399702043 | SOST | c.367A>T (p.Lys123Ter) | |
17 | g.43755617T>C | CA399702045 | SOST | c.367A>G (p.Lys123Glu) | |
17 | g.43755617T>G | CA399702046 | SOST | c.367A>C (p.Lys123Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755617T= | CA2261069235 | SOST | c.367A= (p.Lys123=) | |
17 | g.43755618G>A | CA500234784 | SOST | c.366C>T (p.Gly122=) | gnomAD v4 |
17 | g.43755618G>C | CA500234785 | SOST | c.366C>G (p.Gly122=) | gnomAD v4 |
17 | g.43755618G>T | CA500234786 | SOST | c.366C>A (p.Gly122=) | gnomAD v4 |
17 | g.43755619C>A | CA399702048 | SOST | c.365G>T (p.Gly122Val) | gnomAD v4 |
17 | g.43755619C>G | CA399702049 | SOST | c.365G>C (p.Gly122Ala) | |
17 | g.43755619C>T | CA399702051 | SOST | c.365G>A (p.Gly122Asp) | gnomAD v4 |
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 |