Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.87811549_87811560dup | CA2671363057 | IBSP | c.593_604dup (p.Gly201_Glu202insGlyGluGluGly) | gnomAD v4 |
4 | g.87811549_87811552delinsGAGA | CA1474474640 | IBSP | c.593_596delinsGAGA (p.Gly198=) | |
4 | g.87811550A= | CA1474474641 | IBSP | c.594A= (p.Gly198=) | |
4 | g.87811550A>C | CA440295870 | IBSP | c.594A>C (p.Gly198=) | gnomAD v4 |
4 | g.87811550A>G | CA440295871 | IBSP | c.594A>G (p.Gly198=) | dbSNP |
4 | g.87811550A>T | CA440295872 | IBSP | c.594A>T (p.Gly198=) | |
4 | g.87811555_87811557del | CA553085741 | IBSP | c.599_601del (p.Glu200del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811551G>A | CA357621056 | IBSP | c.595G>A (p.Glu199Lys) | |
4 | g.87811551G>C | CA357621058 | IBSP | c.595G>C (p.Glu199Gln) | |
4 | g.87811551G>T | CA357621059 | IBSP | c.595G>T (p.Glu199Ter) | |
4 | g.87811552A= | CA1474474642 | IBSP | c.596A= (p.Glu199=) | |
4 | g.87811552A>C | CA357621062 | IBSP | c.596A>C (p.Glu199Ala) | |
4 | g.87811552A>G | CA357621063 | IBSP | c.596A>G (p.Glu199Gly) | |
4 | g.87811552A>T | CA357621065 | IBSP | c.596A>T (p.Glu199Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.87811553A>C | CA357621066 | IBSP | c.597A>C (p.Glu199Asp) | |
4 | g.87811553A>G | CA440295879 | IBSP | c.597A>G (p.Glu199=) | |
4 | g.87811553A>T | CA357621068 | IBSP | c.597A>T (p.Glu199Asp) | |
4 | g.87811554G>A | CA357621069 | IBSP | c.598G>A (p.Glu200Lys) | |
4 | g.87811554G>C | CA357621072 | IBSP | c.598G>C (p.Glu200Gln) | |
4 | g.87811554G>T | CA357621070 | IBSP | c.598G>T (p.Glu200Ter) | |
4 | g.87811555A>C | CA357621073 | IBSP | c.599A>C (p.Glu200Ala) | |
4 | g.87811555A>G | CA357621077 | IBSP | c.599A>G (p.Glu200Gly) | |
4 | g.87811555A>T | CA357621075 | IBSP | c.599A>T (p.Glu200Val) | |
4 | g.87811556A>C | CA357621078 | IBSP | c.600A>C (p.Glu200Asp) | |
4 | g.87811556A>G | CA440295883 | IBSP | c.600A>G (p.Glu200=) | gnomAD v4 |
4 | g.87811556A>T | CA357621079 | IBSP | c.600A>T (p.Glu200Asp) | |
4 | g.87811557G>A | CA357621081 | IBSP | c.601G>A (p.Gly201Arg) | gnomAD v4 |
4 | g.87811557G>C | CA357621083 | IBSP | c.601G>C (p.Gly201Arg) | |
4 | g.87811557G= | CA1474474643 | IBSP | c.601G= (p.Gly201=) | |
4 | g.87811557G>T | CA100855915 | IBSP | c.601G>T (p.Gly201Trp) | dbSNP gnomAD v4 |
4 | g.87811558G>A | CA357621085 | IBSP | c.602G>A (p.Gly201Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.87811558G>C | CA357621087 | IBSP | c.602G>C (p.Gly201Ala) | dbSNP gnomAD v4 |
4 | g.87811558G= | CA1474474644 | IBSP | c.602G= (p.Gly201=) | |
4 | g.87811558G>T | CA357621089 | IBSP | c.602G>T (p.Gly201Val) | |
4 | g.87811559G>A | CA3002433 | IBSP | c.603G>A (p.Gly201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87811559G>C | CA440295890 | IBSP | c.603G>C (p.Gly201=) | |
4 | g.87811559G= | CA1474474645 | IBSP | c.603G= (p.Gly201=) | |
4 | g.87811559G>T | CA440295891 | IBSP | c.603G>T (p.Gly201=) | |
4 | g.87811560G>A | CA357621092 | IBSP | c.604G>A (p.Glu202Lys) | gnomAD v4 |
4 | g.87811560G>C | CA357621093 | IBSP | c.604G>C (p.Glu202Gln) | |
4 | g.87811560G= | CA1474474646 | IBSP | c.604G= (p.Glu202=) | |
4 | g.87811560G>T | CA357621095 | IBSP | c.604G>T (p.Glu202Ter) | dbSNP |
4 | g.87811561A= | CA1474474647 | IBSP | c.605A= (p.Glu202=) | |
4 | g.87811561A>C | CA357621100 | IBSP | c.605A>C (p.Glu202Ala) | |
4 | g.87811561A>G | CA357621097 | IBSP | c.605A>G (p.Glu202Gly) | dbSNP |
4 | g.87811561A>T | CA357621099 | IBSP | c.605A>T (p.Glu202Val) | |
4 | g.87811562A= | CA1474474648 | IBSP | c.606A= (p.Glu202=) | |
4 | g.87811562A>C | CA357621102 | IBSP | c.606A>C (p.Glu202Asp) | |
4 | g.87811562A>G | CA440295894 | IBSP | c.606A>G (p.Glu202=) | gnomAD v4 |
4 | g.87811562A>T | CA357621103 | IBSP | c.606A>T (p.Glu202Asp) | dbSNP gnomAD v2 gnomAD v4 |