Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43755414C>A | CA399701348 | SOST | c.570G>T (p.Gln190His) | gnomAD v4 |
17 | g.43755414C>G | CA399701350 | SOST | c.570G>C (p.Gln190His) | gnomAD v4 |
17 | g.43755414C>T | CA500234869 | SOST | c.570G>A (p.Gln190=) | gnomAD v4 |
17 | g.43755415T>A | CA399701351 | SOST | c.569A>T (p.Gln190Leu) | |
17 | g.43755415T>C | CA399701352 | SOST | c.569A>G (p.Gln190Arg) | gnomAD v4 |
17 | g.43755415T>G | CA399701353 | SOST | c.569A>C (p.Gln190Pro) | |
17 | g.43755416G>A | CA399701355 | SOST | c.568C>T (p.Gln190Ter) | gnomAD v4 |
17 | g.43755416G>C | CA399701356 | SOST | c.568C>G (p.Gln190Glu) | |
17 | g.43755416G= | CA2261069138 | SOST | c.568C= (p.Gln190=) | |
17 | g.43755416G>T | CA8592768 | SOST | c.568C>A (p.Gln190Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755417C>A | CA500234875 | SOST | c.567G>T (p.Pro189=) | gnomAD v4 |
17 | g.43755417C>G | CA500234876 | SOST | c.567G>C (p.Pro189=) | |
17 | g.43755417C>T | CA500234877 | SOST | c.567G>A (p.Pro189=) | gnomAD v4 |
17 | g.43755418G>A | CA399701359 | SOST | c.566C>T (p.Pro189Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43755418G>C | CA399701360 | SOST | c.566C>G (p.Pro189Arg) | |
17 | g.43755418G= | CA2261069139 | SOST | c.566C= (p.Pro189=) | |
17 | g.43755418G>T | CA399701362 | SOST | c.566C>A (p.Pro189Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755419G>A | CA8592769 | SOST | c.565C>T (p.Pro189Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755419G>C | CA399701366 | SOST | c.565C>G (p.Pro189Ala) | |
17 | g.43755419G= | CA2261069140 | SOST | c.565C= (p.Pro189=) | |
17 | g.43755419G>T | CA399701364 | SOST | c.565C>A (p.Pro189Thr) | gnomAD v4 |
17 | g.43755420C>A | CA500234878 | SOST | c.564G>T (p.Arg188=) | gnomAD v4 |
17 | g.43755420C= | CA2261069141 | SOST | c.564G= (p.Arg188=) | |
17 | g.43755420C>G | CA500234879 | SOST | c.564G>C (p.Arg188=) | |
17 | g.43755420C>T | CA8592770 | SOST | c.564G>A (p.Arg188=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43755421C>A | CA399701368 | SOST | c.563G>T (p.Arg188Leu) | gnomAD v4 |
17 | g.43755421C>G | CA399701369 | SOST | c.563G>C (p.Arg188Pro) | gnomAD v4 |
17 | g.43755421C>T | CA399701370 | SOST | c.563G>A (p.Arg188Gln) | gnomAD v4 |
17 | g.43755422G>A | CA399701373 | SOST | c.562C>T (p.Arg188Trp) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43755422G>C | CA399701374 | SOST | c.562C>G (p.Arg188Gly) | gnomAD v4 |
17 | g.43755422G= | CA2261069142 | SOST | c.562C= (p.Arg188=) | |
17 | g.43755422G>T | CA500234884 | SOST | c.562C>A (p.Arg188=) | gnomAD v4 |
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 |