Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112453215_112453216del | CA129799 | PTPN11 | c.353_354del (p.Ser118TrpfsTer10) c.350_351del (p.Ser117TrpfsTer10) | ClinVar dbSNP |
12 | g.112453215C>A | CA386780549 | PTPN11 | c.353C>A (p.Ser118Tyr) c.350C>A (p.Ser117Tyr) | dbSNP |
12 | g.112453215C>G | CA386780555 | PTPN11 | c.353C>G (p.Ser118Cys) c.350C>G (p.Ser117Cys) | |
12 | g.112453215C>T | CA386780556 | PTPN11 | c.353C>T (p.Ser118Phe) c.350C>T (p.Ser117Phe) | dbSNP |
12 | g.112453216T>A | CA481882344 | PTPN11 | c.354T>A (p.Ser118=) c.351T>A (p.Ser117=) | |
12 | g.112453216T>C | CA481882346 | PTPN11 | c.354T>C (p.Ser118=) c.351T>C (p.Ser117=) | |
12 | g.112453216T>G | CA481882348 | PTPN11 | c.354T>G (p.Ser118=) c.351T>G (p.Ser117=) | ClinVar gnomAD v4 |
12 | g.112453217G>A | CA386780559 | PTPN11 | c.355G>A (p.Gly119Arg) c.352G>A (p.Gly118Arg) | dbSNP |
12 | g.112453217G>C | CA386780562 | PTPN11 | c.355G>C (p.Gly119Arg) c.352G>C (p.Gly118Arg) | dbSNP |
12 | g.112453217G>T | CA386780568 | PTPN11 | c.355G>T (p.Gly119Trp) c.352G>T (p.Gly118Trp) | |
12 | g.112453219del | CA2727218685 | PTPN11 | c.357del (p.Glu121LysfsTer6) c.354del (p.Glu120LysfsTer6) | dbSNP |
12 | g.112453218G>A | CA386780569 | PTPN11 | c.356G>A (p.Gly119Glu) c.353G>A (p.Gly118Glu) | dbSNP |
12 | g.112453218G>C | CA386780570 | PTPN11 | c.356G>C (p.Gly119Ala) c.353G>C (p.Gly118Ala) | dbSNP |
12 | g.112453218G>T | CA386780573 | PTPN11 | c.356G>T (p.Gly119Val) c.353G>T (p.Gly118Val) | dbSNP |
12 | g.112453219G>A | CA481882358 | PTPN11 | c.357G>A (p.Gly119=) c.354G>A (p.Gly118=) | COSMIC |
12 | g.112453219G>C | CA481882356 | PTPN11 | c.357G>C (p.Gly119=) c.354G>C (p.Gly118=) | |
12 | g.112453219G>T | CA481882352 | PTPN11 | c.357G>T (p.Gly119=) c.354G>T (p.Gly118=) | |
12 | g.112453220A>C | CA386780583 | PTPN11 | c.358A>C (p.Lys120Gln) c.355A>C (p.Lys119Gln) | |
12 | g.112453220A>G | CA386780582 | PTPN11 | c.358A>G (p.Lys120Glu) c.355A>G (p.Lys119Glu) | |
12 | g.112453220A>T | CA386780578 | PTPN11 | c.358A>T (p.Lys120Ter) c.355A>T (p.Lys119Ter) | dbSNP |
12 | g.112453221A>C | CA386780588 | PTPN11 | c.359A>C (p.Lys120Thr) c.356A>C (p.Lys119Thr) | |
12 | g.112453221A>G | CA386780591 | PTPN11 | c.359A>G (p.Lys120Arg) c.356A>G (p.Lys119Arg) | |
12 | g.112453221A>T | CA386780592 | PTPN11 | c.359A>T (p.Lys120Ile) c.356A>T (p.Lys119Ile) | |
12 | g.112453222A>C | CA386780597 | PTPN11 | c.360A>C (p.Lys120Asn) c.357A>C (p.Lys119Asn) | |
12 | g.112453222A>G | CA481882370 | PTPN11 | c.360A>G (p.Lys120=) c.357A>G (p.Lys119=) | gnomAD v4 |
12 | g.112453222A>T | CA386780600 | PTPN11 | c.360A>T (p.Lys120Asn) c.357A>T (p.Lys119Asn) | |
12 | g.112453223G>A | CA386780605 | PTPN11 | c.361G>A (p.Glu121Lys) c.358G>A (p.Glu120Lys) | dbSNP |
12 | g.112453223G>C | CA386780607 | PTPN11 | c.361G>C (p.Glu121Gln) c.358G>C (p.Glu120Gln) | dbSNP |
12 | g.112453223G>T | CA386780610 | PTPN11 | c.361G>T (p.Glu121Ter) c.358G>T (p.Glu120Ter) | dbSNP |
12 | g.112453224A>C | CA386780613 | PTPN11 | c.362A>C (p.Glu121Ala) c.359A>C (p.Glu120Ala) | |
12 | g.112453224A>G | CA386780615 | PTPN11 | c.362A>G (p.Glu121Gly) c.359A>G (p.Glu120Gly) | |
12 | g.112453224A>T | CA386780620 | PTPN11 | c.362A>T (p.Glu121Val) c.359A>T (p.Glu120Val) | |
12 | g.112453225A>C | CA386780623 | PTPN11 | c.363A>C (p.Glu121Asp) c.360A>C (p.Glu120Asp) | |
12 | g.112453225A>G | CA481882376 | PTPN11 | c.363A>G (p.Glu121=) c.360A>G (p.Glu120=) | ClinVar dbSNP |
12 | g.112453225A>T | CA386780629 | PTPN11 | c.363A>T (p.Glu121Asp) c.360A>T (p.Glu120Asp) | dbSNP |
12 | g.112453226G>A | CA386780653 | PTPN11 | c.364G>A (p.Ala122Thr) c.361G>A (p.Ala121Thr) | dbSNP |
12 | g.112453226G>C | CA386780657 | PTPN11 | c.364G>C (p.Ala122Pro) c.361G>C (p.Ala121Pro) | dbSNP |
12 | g.112453226G>T | CA386780646 | PTPN11 | c.364G>T (p.Ala122Ser) c.361G>T (p.Ala121Ser) | dbSNP |
12 | g.112453227C>A | CA386780659 | PTPN11 | c.365C>A (p.Ala122Glu) c.362C>A (p.Ala121Glu) | dbSNP gnomAD v4 |
12 | g.112453227C>G | CA386780660 | PTPN11 | c.365C>G (p.Ala122Gly) c.362C>G (p.Ala121Gly) | dbSNP |
12 | g.112453227C>T | CA386780663 | PTPN11 | c.365C>T (p.Ala122Val) c.362C>T (p.Ala121Val) | dbSNP |
12 | g.112453228A= | CA2063743309 | PTPN11 | c.366A= (p.Ala122=) c.363A= (p.Ala121=) | |
12 | g.112453228A>C | CA481882384 | PTPN11 | c.366A>C (p.Ala122=) c.363A>C (p.Ala121=) | |
12 | g.112453228A>G | CA243708211 | PTPN11 | c.366A>G (p.Ala122=) c.363A>G (p.Ala121=) | dbSNP |
12 | g.112453228A>T | CA481882386 | PTPN11 | c.366A>T (p.Ala122=) c.363A>T (p.Ala121=) | |
12 | g.112453229G>A | CA386780666 | PTPN11 | c.367G>A (p.Glu123Lys) c.364G>A (p.Glu122Lys) | |
12 | g.112453229G>C | CA386780668 | PTPN11 | c.367G>C (p.Glu123Gln) c.364G>C (p.Glu122Gln) | dbSNP |
12 | g.112453229G>T | CA386780670 | PTPN11 | c.367G>T (p.Glu123Ter) c.364G>T (p.Glu122Ter) | |
12 | g.112453230A>C | CA386780674 | PTPN11 | c.368A>C (p.Glu123Ala) c.365A>C (p.Glu122Ala) | |
12 | g.112453230A>G | CA386780678 | PTPN11 | c.368A>G (p.Glu123Gly) c.365A>G (p.Glu122Gly) |