Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.87811539_87811540del | CA2671363056 | IBSP | c.583_584del (p.Gly195ArgfsTer?) | gnomAD v4 |
4 | g.87811540G>A | CA3002428 | IBSP | c.584G>A (p.Gly195Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811540G>C | CA357621013 | IBSP | c.584G>C (p.Gly195Ala) | |
4 | g.87811540G= | CA1474474633 | IBSP | c.584G= (p.Gly195=) | |
4 | g.87811540G>T | CA357621016 | IBSP | c.584G>T (p.Gly195Val) | |
4 | g.87811541A= | CA1474474634 | IBSP | c.585A= (p.Gly195=) | |
4 | g.87811541A>C | CA440295858 | IBSP | c.585A>C (p.Gly195=) | |
4 | g.87811541A>G | CA440295859 | IBSP | c.585A>G (p.Gly195=) | dbSNP |
4 | g.87811541A>T | CA3002429 | IBSP | c.585A>T (p.Gly195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87811542G>A | CA357621017 | IBSP | c.586G>A (p.Asp196Asn) | |
4 | g.87811542G>C | CA357621019 | IBSP | c.586G>C (p.Asp196His) | |
4 | g.87811542G>T | CA357621018 | IBSP | c.586G>T (p.Asp196Tyr) | |
4 | g.87811543A= | CA1474474635 | IBSP | c.587A= (p.Asp196=) | |
4 | g.87811543A>C | CA357621023 | IBSP | c.587A>C (p.Asp196Ala) | |
4 | g.87811543A>G | CA357621026 | IBSP | c.587A>G (p.Asp196Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.87811543A>T | CA357621028 | IBSP | c.587A>T (p.Asp196Val) | |
4 | g.87811544C>A | CA3002430 | IBSP | c.588C>A (p.Asp196Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811544C= | CA1474474636 | IBSP | c.588C= (p.Asp196=) | |
4 | g.87811544C>G | CA357621033 | IBSP | c.588C>G (p.Asp196Glu) | |
4 | g.87811544C>T | CA440295864 | IBSP | c.588C>T (p.Asp196=) | |
4 | g.87811545A>C | CA357621037 | IBSP | c.589A>C (p.Asn197His) | |
4 | g.87811545A>G | CA357621035 | IBSP | c.589A>G (p.Asn197Asp) | |
4 | g.87811545A>T | CA357621034 | IBSP | c.589A>T (p.Asn197Tyr) | |
4 | g.87811546A= | CA1474474637 | IBSP | c.590A= (p.Asn197=) | |
4 | g.87811546A>C | CA357621039 | IBSP | c.590A>C (p.Asn197Thr) | |
4 | g.87811546A>G | CA357621040 | IBSP | c.590A>G (p.Asn197Ser) | dbSNP gnomAD v4 |
4 | g.87811546A>T | CA3002431 | IBSP | c.590A>T (p.Asn197Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811547T>A | CA357621042 | IBSP | c.591T>A (p.Asn197Lys) | |
4 | g.87811547T>C | CA3002432 | IBSP | c.591T>C (p.Asn197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87811547T>G | CA357621044 | IBSP | c.591T>G (p.Asn197Lys) | |
4 | g.87811547T= | CA1474474638 | IBSP | c.591T= (p.Asn197=) | |
4 | g.87811548G>A | CA357621047 | IBSP | c.592G>A (p.Gly198Arg) | COSMIC |
4 | g.87811548G>C | CA357621050 | IBSP | c.592G>C (p.Gly198Arg) | |
4 | g.87811548G>T | CA357621048 | IBSP | c.592G>T (p.Gly198Ter) | |
4 | g.87811549_87811560dup | CA2671363057 | IBSP | c.593_604dup (p.Gly201_Glu202insGlyGluGluGly) | gnomAD v4 |
4 | g.87811549G>A | CA357621051 | IBSP | c.593G>A (p.Gly198Glu) | dbSNP |
4 | g.87811549G>C | CA357621052 | IBSP | c.593G>C (p.Gly198Ala) | dbSNP |
4 | g.87811549G= | CA1474474639 | IBSP | c.593G= (p.Gly198=) | |
4 | g.87811549G>T | CA357621054 | IBSP | c.593G>T (p.Gly198Val) | |
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) |