| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43755512T>A | CA399701689 | SOST | c.472A>T (p.Lys158Ter) | |
| 17 | g.43755512T>C | CA399701690 | SOST | c.472A>G (p.Lys158Glu) | |
| 17 | g.43755512T>G | CA399701692 | SOST | c.472A>C (p.Lys158Gln) | |
| 17 | g.43755512_43755513del | CA2638110209 | SOST | c.471_472del (p.Lys158GlyfsTer?) | gnomAD v4 |
| 17 | g.43755512_43755514delinsTGC | CA2261069178 | SOST | c.470_472delinsGCA (p.Arg157=) | |
| 17 | g.43755513G>A | CA500234983 | SOST | c.471C>T (p.Arg157=) | |
| 17 | g.43755513G>C | CA500234984 | SOST | c.471C>G (p.Arg157=) | |
| 17 | g.43755513G>T | CA500234985 | SOST | c.471C>A (p.Arg157=) | gnomAD v4 |
| 17 | g.43755522_43755523dup | CA2638110210 | SOST | c.470_471dup (p.Lys158AlafsTer?) | gnomAD v4 |
| 17 | g.43755520_43755523dup | CA2576284817 | SOST | c.468_471dup (p.Lys158AlafsTer?) | |
| 17 | g.43755522_43755523del | CA8592783 | SOST | c.470_471del (p.Arg157GlnfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.43755514C>A | CA399701696 | SOST | c.470G>T (p.Arg157Leu) | gnomAD v4 |
| 17 | g.43755514C>G | CA399701698 | SOST | c.470G>C (p.Arg157Pro) | gnomAD v4 |
| 17 | g.43755514C>T | CA399701699 | SOST | c.470G>A (p.Arg157His) | gnomAD v4 |
| 17 | g.43755515G>A | CA399701703 | SOST | c.469C>T (p.Arg157Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43755515G>C | CA399701701 | SOST | c.469C>G (p.Arg157Gly) | |
| 17 | g.43755515G= | CA2261069179 | SOST | c.469C= (p.Arg157=) | |
| 17 | g.43755515G>T | CA399701704 | SOST | c.469C>A (p.Arg157Ser) | gnomAD v4 |
| 17 | g.43755516C>A | CA500234988 | SOST | c.468G>T (p.Ala156=) | gnomAD v4 |
| 17 | g.43755516C= | CA2261069180 | SOST | c.468G= (p.Ala156=) | |
| 17 | g.43755516C>G | CA500234986 | SOST | c.468G>C (p.Ala156=) | |
| 17 | g.43755516C>T | CA500234987 | SOST | c.468G>A (p.Ala156=) | dbSNP gnomAD v4 |
| 17 | g.43755517G>A | CA290857025 | SOST | c.467C>T (p.Ala156Val) | dbSNP gnomAD v4 COSMIC |
| 17 | g.43755517G>C | CA399701706 | SOST | c.467C>G (p.Ala156Gly) | |
| 17 | g.43755517G= | CA2261069181 | SOST | c.467C= (p.Ala156=) | |
| 17 | g.43755517G>T | CA399701708 | SOST | c.467C>A (p.Ala156Glu) | gnomAD v4 |
| 17 | g.43755518C>A | CA399701710 | SOST | c.466G>T (p.Ala156Ser) | gnomAD v4 |
| 17 | g.43755518C>G | CA399701711 | SOST | c.466G>C (p.Ala156Pro) | |
| 17 | g.43755518C>T | CA399701712 | SOST | c.466G>A (p.Ala156Thr) | gnomAD v4 |
| 17 | g.43755519G>A | CA8592784 | SOST | c.465C>T (p.Arg155=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43755519G>C | CA500234989 | SOST | c.465C>G (p.Arg155=) | |
| 17 | g.43755519G= | CA2261069182 | SOST | c.465C= (p.Arg155=) | |
| 17 | g.43755519G>T | CA500234990 | SOST | c.465C>A (p.Arg155=) | gnomAD v4 |
| 17 | g.43755520C>A | CA399701715 | SOST | c.464G>T (p.Arg155Leu) | gnomAD v4 |
| 17 | g.43755520C>G | CA399701717 | SOST | c.464G>C (p.Arg155Pro) | |
| 17 | g.43755520C>T | CA399701718 | SOST | c.464G>A (p.Arg155His) | gnomAD v4 |
| 17 | g.43755521G>A | CA399701719 | SOST | c.463C>T (p.Arg155Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 17 | g.43755521G>C | CA399701720 | SOST | c.463C>G (p.Arg155Gly) | gnomAD v4 |
| 17 | g.43755521G= | CA2261069183 | SOST | c.463C= (p.Arg155=) | |
| 17 | g.43755521G>T | CA399701721 | SOST | c.463C>A (p.Arg155Ser) | gnomAD v4 |
| 17 | g.43755522C>A | CA500234991 | SOST | c.462G>T (p.Pro154=) | gnomAD v4 |
| 17 | g.43755522C>G | CA500234992 | SOST | c.462G>C (p.Pro154=) | |
| 17 | g.43755522C>T | CA500234993 | SOST | c.462G>A (p.Pro154=) | gnomAD v4 |
| 17 | g.43755523G>A | CA8592785 | SOST | c.461C>T (p.Pro154Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43755523G>C | CA399701723 | SOST | c.461C>G (p.Pro154Arg) | gnomAD v4 |
| 17 | g.43755523G= | CA2261069184 | SOST | c.461C= (p.Pro154=) | |
| 17 | g.43755523G>T | CA399701725 | SOST | c.461C>A (p.Pro154Gln) | gnomAD v4 |
| 17 | g.43755524G>A | CA399701727 | SOST | c.460C>T (p.Pro154Ser) | dbSNP gnomAD v4 |
| 17 | g.43755524G>C | CA399701729 | SOST | c.460C>G (p.Pro154Ala) | dbSNP |
| 17 | g.43755524G= | CA2261069185 | SOST | c.460C= (p.Pro154=) |