Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112446276A>C | CA386776114 | PTPN11 | c.15A>C (p.Arg5Ser) | |
12 | g.112446276A>G | CA481880886 | PTPN11 | c.15A>G (p.Arg5=) | |
12 | g.112446276A>T | CA386776115 | PTPN11 | c.15A>T (p.Arg5Ser) | |
12 | g.112446277T>A | CA386776118 | PTPN11 | c.16T>A (p.Trp6Arg) | |
12 | g.112446277T>C | CA386776117 | PTPN11 | c.16T>C (p.Trp6Arg) | |
12 | g.112446277T>G | CA386776116 | PTPN11 | c.16T>G (p.Trp6Gly) | |
12 | g.112446278G>A | CA386776119 | PTPN11 | c.17G>A (p.Trp6Ter) | |
12 | g.112446278G>C | CA386776120 | PTPN11 | c.17G>C (p.Trp6Ser) | |
12 | g.112446278G>T | CA386776121 | PTPN11 | c.17G>T (p.Trp6Leu) | gnomAD v4 |
12 | g.112446279del | CA2573148012 | PTPN11 | c.18del (p.Trp6CysfsTer16) | ClinVar dbSNP |
12 | g.112446279G>A | CA386776122 | PTPN11 | c.18G>A (p.Trp6Ter) | |
12 | g.112446279G>C | CA386776123 | PTPN11 | c.18G>C (p.Trp6Cys) | ClinVar |
12 | g.112446279G= | CA2063771307 | PTPN11 | c.18G= (p.Trp6=) | |
12 | g.112446279G>T | CA243707497 | PTPN11 | c.18G>T (p.Trp6Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.112446280T>A | CA386776124 | PTPN11 | c.19T>A (p.Phe7Ile) | |
12 | g.112446280T>C | CA386776126 | PTPN11 | c.19T>C (p.Phe7Leu) | |
12 | g.112446280T>G | CA386776125 | PTPN11 | c.19T>G (p.Phe7Val) | |
12 | g.112446281T>A | CA386776127 | PTPN11 | c.20T>A (p.Phe7Tyr) | |
12 | g.112446281T>C | CA386776128 | PTPN11 | c.20T>C (p.Phe7Ser) | |
12 | g.112446281T>G | CA386776129 | PTPN11 | c.20T>G (p.Phe7Cys) | |
12 | g.112446282T>A | CA386776130 | PTPN11 | c.21T>A (p.Phe7Leu) | |
12 | g.112446282T>C | CA481880892 | PTPN11 | c.21T>C (p.Phe7=) | |
12 | g.112446282T>G | CA386776131 | PTPN11 | c.21T>G (p.Phe7Leu) | |
12 | g.112446283C>A | CA386776132 | PTPN11 | c.22C>A (p.His8Asn) | |
12 | g.112446283C>G | CA386776133 | PTPN11 | c.22C>G (p.His8Asp) | |
12 | g.112446283C>T | CA386776134 | PTPN11 | c.22C>T (p.His8Tyr) | dbSNP |
12 | g.112446284A>C | CA386776135 | PTPN11 | c.23A>C (p.His8Pro) | |
12 | g.112446284A>G | CA386776136 | PTPN11 | c.23A>G (p.His8Arg) | |
12 | g.112446284A>T | CA386776137 | PTPN11 | c.23A>T (p.His8Leu) | |
12 | g.112446285C>A | CA386776138 | PTPN11 | c.24C>A (p.His8Gln) | |
12 | g.112446285C= | CA2063771315 | PTPN11 | c.24C= (p.His8=) | |
12 | g.112446285C>G | CA386776139 | PTPN11 | c.24C>G (p.His8Gln) | |
12 | g.112446285C>T | CA481880895 | PTPN11 | c.24C>T (p.His8=) | dbSNP |
12 | g.112446286C>A | CA386776140 | PTPN11 | c.25C>A (p.Pro9Thr) | |
12 | g.112446286C= | CA2063771321 | PTPN11 | c.25C= (p.Pro9=) | |
12 | g.112446286C>G | CA6798503 | PTPN11 | c.25C>G (p.Pro9Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112446286C>T | CA386776141 | PTPN11 | c.25C>T (p.Pro9Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112446287C>A | CA6798504 | PTPN11 | c.26C>A (p.Pro9Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112446287C= | CA2063771325 | PTPN11 | c.26C= (p.Pro9=) | |
12 | g.112446287C>G | CA386776143 | PTPN11 | c.26C>G (p.Pro9Arg) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112446287C>T | CA386776142 | PTPN11 | c.26C>T (p.Pro9Leu) | |
12 | g.112446288A>C | CA481880901 | PTPN11 | c.27A>C (p.Pro9=) | |
12 | g.112446288A>G | CA481880899 | PTPN11 | c.27A>G (p.Pro9=) | |
12 | g.112446288A>T | CA481880900 | PTPN11 | c.27A>T (p.Pro9=) | |
12 | g.112446289A= | CA2063771340 | PTPN11 | c.28A= (p.Asn10=) | |
12 | g.112446289A>C | CA386776144 | PTPN11 | c.28A>C (p.Asn10His) | ClinVar dbSNP |
12 | g.112446289A>G | CA6798505 | PTPN11 | c.28A>G (p.Asn10Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112446289A>T | CA386776145 | PTPN11 | c.28A>T (p.Asn10Tyr) | ClinVar |
12 | g.112446290A= | CA2063771355 | PTPN11 | c.29A= (p.Asn10=) | |
12 | g.112446290A>C | CA386776146 | PTPN11 | c.29A>C (p.Asn10Thr) | ClinVar |