Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43755423A>C | CA500234885 | SOST | c.561T>G (p.Ala187=) | |
17 | g.43755423A>G | CA500234887 | SOST | c.561T>C (p.Ala187=) | |
17 | g.43755423A>T | CA500234886 | SOST | c.561T>A (p.Ala187=) | |
17 | g.43755424G>A | CA399701376 | SOST | c.560C>T (p.Ala187Val) | gnomAD v4 |
17 | g.43755424G>C | CA399701378 | SOST | c.560C>G (p.Ala187Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755424G= | CA2261069143 | SOST | c.560C= (p.Ala187=) | |
17 | g.43755424G>T | CA399701379 | SOST | c.560C>A (p.Ala187Asp) | gnomAD v4 |
17 | g.43755425C>A | CA399701381 | SOST | c.559G>T (p.Ala187Ser) | dbSNP gnomAD v4 |
17 | g.43755425C= | CA2261069144 | SOST | c.559G= (p.Ala187=) | |
17 | g.43755425C>G | CA399701383 | SOST | c.559G>C (p.Ala187Pro) | |
17 | g.43755425C>T | CA399701384 | SOST | c.559G>A (p.Ala187Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755426G>A | CA500234894 | SOST | c.558C>T (p.Ala186=) | gnomAD v4 |
17 | g.43755426G>C | CA500234892 | SOST | c.558C>G (p.Ala186=) | gnomAD v4 |
17 | g.43755426G= | CA2261069145 | SOST | c.558C= (p.Ala186=) | |
17 | g.43755426G>T | CA500234893 | SOST | c.558C>A (p.Ala186=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755427G>A | CA399701389 | SOST | c.557C>T (p.Ala186Val) | gnomAD v4 |
17 | g.43755427G>C | CA399701387 | SOST | c.557C>G (p.Ala186Gly) | |
17 | g.43755427G>T | CA399701386 | SOST | c.557C>A (p.Ala186Asp) | gnomAD v4 |
17 | g.43755428C>A | CA399701391 | SOST | c.556G>T (p.Ala186Ser) | dbSNP |
17 | g.43755428C= | CA2261069146 | SOST | c.556G= (p.Ala186=) | |
17 | g.43755428C>G | CA399701393 | SOST | c.556G>C (p.Ala186Pro) | |
17 | g.43755428C>T | CA399701394 | SOST | c.556G>A (p.Ala186Thr) | |
17 | g.43755429C>A | CA399701396 | SOST | c.555G>T (p.Glu185Asp) | |
17 | g.43755429C= | CA2261069147 | SOST | c.555G= (p.Glu185=) | |
17 | g.43755429C>G | CA399701398 | SOST | c.555G>C (p.Glu185Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755429C>T | CA8592771 | SOST | c.555G>A (p.Glu185=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755430T>A | CA290856934 | SOST | c.554A>T (p.Glu185Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755430T>C | CA399701401 | SOST | c.554A>G (p.Glu185Gly) | |
17 | g.43755430T>G | CA399701403 | SOST | c.554A>C (p.Glu185Ala) | |
17 | g.43755430T= | CA2261069148 | SOST | c.554A= (p.Glu185=) | |
17 | g.43755431C>A | CA399701405 | SOST | c.553G>T (p.Glu185Ter) | gnomAD v4 |
17 | g.43755431C= | CA2261069149 | SOST | c.553G= (p.Glu185=) | |
17 | g.43755431C>G | CA399701406 | SOST | c.553G>C (p.Glu185Gln) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755431C>T | CA8592772 | SOST | c.553G>A (p.Glu185Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43755432G>A | CA500234900 | SOST | c.552C>T (p.Thr184=) | gnomAD v4 |
17 | g.43755432G>C | CA500234901 | SOST | c.552C>G (p.Thr184=) | dbSNP gnomAD v4 |
17 | g.43755432G>T | CA500234902 | SOST | c.552C>A (p.Thr184=) | gnomAD v4 |
17 | g.43755433G>A | CA399701411 | SOST | c.551C>T (p.Thr184Ile) | |
17 | g.43755433G>C | CA399701410 | SOST | c.551C>G (p.Thr184Ser) | |
17 | g.43755433G>T | CA399701409 | SOST | c.551C>A (p.Thr184Asn) | gnomAD v4 |
17 | g.43755434T>A | CA399701414 | SOST | c.550A>T (p.Thr184Ser) | gnomAD v4 |
17 | g.43755434T>C | CA399701415 | SOST | c.550A>G (p.Thr184Ala) | gnomAD v4 |
17 | g.43755434T>G | CA399701417 | SOST | c.550A>C (p.Thr184Pro) | |
17 | g.43755435C>A | CA500234906 | SOST | c.549G>T (p.Gly183=) | gnomAD v4 |
17 | g.43755435C>G | CA500234907 | SOST | c.549G>C (p.Gly183=) | |
17 | g.43755435C>T | CA500234908 | SOST | c.549G>A (p.Gly183=) | gnomAD v4 |
17 | g.43755436C>A | CA399701418 | SOST | c.548G>T (p.Gly183Val) | gnomAD v4 |
17 | g.43755436C= | CA2261069150 | SOST | c.548G= (p.Gly183=) | |
17 | g.43755436C>G | CA399701420 | SOST | c.548G>C (p.Gly183Ala) | |
17 | g.43755436C>T | CA399701422 | SOST | c.548G>A (p.Gly183Glu) | dbSNP gnomAD v2 gnomAD v4 |