| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.112450355_112450366dup | CA1139662887 | PTPN11 | c.175_186dup (p.Tyr62_Tyr63insThrGlyAspTyr) c.172_183dup (p.Tyr61_Tyr62insThrGlyAspTyr) | ClinVar |
| 12 | g.112450359_112450361del | CA341279 | PTPN11 | c.179_181del (p.Gly60del) c.176_178del (p.Gly59del) | ClinVar dbSNP |
| 12 | g.112450358_112450362delinsGGTGA | CA2063740012 | PTPN11 | c.178_182delinsGGTGA (p.Gly60=) c.175_179delinsGGTGA (p.Gly59=) | |
| 12 | g.112450359_112450362delinsT | CA282067 | PTPN11 | c.179_182delinsT (p.Gly60_Asp61delinsVal) c.176_179delinsT (p.Gly59_Asp60delinsVal) | ClinVar dbSNP |
| 12 | g.112450359_112450362delinsGTGA | CA2063740049 | PTPN11 | c.179_182delinsGTGA (p.Gly60=) c.176_179delinsGTGA (p.Gly59=) | |
| 12 | g.112450360T>A | CA481881734 | PTPN11 | c.180T>A (p.Gly60=) c.177T>A (p.Gly59=) | dbSNP |
| 12 | g.112450360T>C | CA481881738 | PTPN11 | c.180T>C (p.Gly60=) c.177T>C (p.Gly59=) | dbSNP |
| 12 | g.112450360T>G | CA481881735 | PTPN11 | c.180T>G (p.Gly60=) c.177T>G (p.Gly59=) | |
| 12 | g.112450360_112450361delinsAA | CA16042833 | PTPN11 | c.180_181delinsAA (p.Asp61Asn) c.177_178delinsAA (p.Asp60Asn) | ClinVar dbSNP |
| 12 | g.112450360_112450361delinsGT | CA243707918 | PTPN11 | c.180_181delinsGT (p.Asp61Tyr) c.177_178delinsGT (p.Asp60Tyr) | |
| 12 | g.112450360_112450361delinsTG | CA2063740068 | PTPN11 | c.180_181delinsTG (p.Gly60=) c.177_178delinsTG (p.Gly59=) | |
| 12 | g.112450361_112450363del | CA356977 | PTPN11 | c.181_183del (p.Asp61del) c.178_180del (p.Asp60del) | ClinVar dbSNP |
| 12 | g.112450361G>A | CA235316 | PTPN11 | c.181G>A (p.Asp61Asn) c.178G>A (p.Asp60Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450361G>C | CA282070 | PTPN11 | c.181G>C (p.Asp61His) c.178G>C (p.Asp60His) | ClinVar dbSNP COSMIC |
| 12 | g.112450361G= | CA2063740088 | PTPN11 | c.181G= (p.Asp61=) c.178G= (p.Asp60=) | |
| 12 | g.112450361G>T | CA10576907 | PTPN11 | c.181G>T (p.Asp61Tyr) c.178G>T (p.Asp60Tyr) | ClinVar dbSNP COSMIC |
| 12 | g.112450361_112450362delinsTT | CA645580455 | PTPN11 | c.181_182delinsTT (p.Asp61Phe) c.178_179delinsTT (p.Asp60Phe) | COSMIC |
| 12 | g.112450361_112450362insT | CA645580456 | PTPN11 | c.181_182insT (p.Asp61ValfsTer4) c.178_179insT (p.Asp60ValfsTer4) | COSMIC |
| 12 | g.112450362A= | CA2063740102 | PTPN11 | c.182A= (p.Asp61=) c.179A= (p.Asp60=) | |
| 12 | g.112450362A>C | CA273600 | PTPN11 | c.182A>C (p.Asp61Ala) c.179A>C (p.Asp60Ala) | ClinVar dbSNP COSMIC |
| 12 | g.112450362A>G | CA177665 | PTPN11 | c.182A>G (p.Asp61Gly) c.179A>G (p.Asp60Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450362A>T | CA282073 | PTPN11 | c.182A>T (p.Asp61Val) c.179A>T (p.Asp60Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.112450363T>A | CA386777586 | PTPN11 | c.183T>A (p.Asp61Glu) c.180T>A (p.Asp60Glu) | dbSNP gnomAD v4 |
| 12 | g.112450363T>C | CA481881741 | PTPN11 | c.183T>C (p.Asp61=) c.180T>C (p.Asp60=) | |
| 12 | g.112450363T>G | CA386777588 | PTPN11 | c.183T>G (p.Asp61Glu) c.180T>G (p.Asp60Glu) | dbSNP |
| 12 | g.112450364T>A | CA282076 | PTPN11 | c.184T>A (p.Tyr62Asn) c.181T>A (p.Tyr61Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.112450364T>C | CA386777592 | PTPN11 | c.184T>C (p.Tyr62His) c.181T>C (p.Tyr61His) | gnomAD v4 |
| 12 | g.112450364T>G | CA234749 | PTPN11 | c.184T>G (p.Tyr62Asp) c.181T>G (p.Tyr61Asp) | ClinVar dbSNP COSMIC |
| 12 | g.112450364T= | CA2063740115 | PTPN11 | c.184T= (p.Tyr62=) c.181T= (p.Tyr61=) | |
| 12 | g.112450364_112450365delinsAT | CA2739277320 | PTPN11 | c.184_185delinsAT (p.Tyr62Ile) c.181_182delinsAT (p.Tyr61Ile) | ClinVar |
| 12 | g.112450366_112450368del | CA1139662888 | PTPN11 | c.186_188del (p.Tyr63del) c.183_185del (p.Tyr62del) | ClinVar |
| 12 | g.112450365A= | CA2063740123 | PTPN11 | c.185A= (p.Tyr62=) c.182A= (p.Tyr61=) | |
| 12 | g.112450365A>C | CA386777608 | PTPN11 | c.185A>C (p.Tyr62Ser) c.182A>C (p.Tyr61Ser) | ClinVar gnomAD v4 |
| 12 | g.112450365A>G | CA243707919 | PTPN11 | c.185A>G (p.Tyr62Cys) c.182A>G (p.Tyr61Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.112450365A>T | CA386777612 | PTPN11 | c.185A>T (p.Tyr62Phe) c.182A>T (p.Tyr61Phe) | dbSNP |
| 12 | g.112450366C>A | CA386777615 | PTPN11 | c.186C>A (p.Tyr62Ter) c.183C>A (p.Tyr61Ter) | |
| 12 | g.112450366C>G | CA386777617 | PTPN11 | c.186C>G (p.Tyr62Ter) c.183C>G (p.Tyr61Ter) | dbSNP |
| 12 | g.112450366C>T | CA481881749 | PTPN11 | c.186C>T (p.Tyr62=) c.183C>T (p.Tyr61=) | dbSNP gnomAD v4 |
| 12 | g.112450367T>A | CA386777619 | PTPN11 | c.187T>A (p.Tyr63Asn) c.184T>A (p.Tyr62Asn) | |
| 12 | g.112450367T>C | CA386777622 | PTPN11 | c.187T>C (p.Tyr63His) c.184T>C (p.Tyr62His) | dbSNP |
| 12 | g.112450367T>G | CA386777625 | PTPN11 | c.187T>G (p.Tyr63Asp) c.184T>G (p.Tyr62Asp) | |
| 12 | g.112450368_112450378del | CA2621021698 | PTPN11 | c.188_198del (p.Tyr63TrpfsTer10) c.185_195del (p.Tyr62TrpfsTer10) | gnomAD v4 |
| 12 | g.112450368A= | CA2063740132 | PTPN11 | c.188A= (p.Tyr63=) c.185A= (p.Tyr62=) | |
| 12 | g.112450368A>C | CA386777628 | PTPN11 | c.188A>C (p.Tyr63Ser) c.185A>C (p.Tyr62Ser) | |
| 12 | g.112450368A>G | CA220146 | PTPN11 | c.188A>G (p.Tyr63Cys) c.185A>G (p.Tyr62Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.112450368A>T | CA386777632 | PTPN11 | c.188A>T (p.Tyr63Phe) c.185A>T (p.Tyr62Phe) | dbSNP |
| 12 | g.112450368_112450369delinsAT | CA2063740135 | PTPN11 | c.188_189delinsAT (p.Tyr63=) c.185_186delinsAT (p.Tyr62=) | |
| 12 | g.112450368_112450369delinsGC | CA16042834 | PTPN11 | c.188_189delinsGC (p.Tyr63Cys) c.185_186delinsGC (p.Tyr62Cys) | ClinVar dbSNP |
| 12 | g.112450369T>A | CA386777636 | PTPN11 | c.189T>A (p.Tyr63Ter) c.186T>A (p.Tyr62Ter) | dbSNP |
| 12 | g.112450369T>C | CA481881753 | PTPN11 | c.189T>C (p.Tyr63=) c.186T>C (p.Tyr62=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |