Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112450406G>A | CA123038 | PTPN11 | c.226G>A (p.Glu76Lys) c.223G>A (p.Glu75Lys) | ClinVar dbSNP COSMIC |
12 | g.112450406G>C | CA297076 | PTPN11 | c.226G>C (p.Glu76Gln) c.223G>C (p.Glu75Gln) | ClinVar dbSNP COSMIC |
12 | g.112450406G= | CA2063740276 | PTPN11 | c.226G= (p.Glu76=) c.223G= (p.Glu75=) | |
12 | g.112450406G>T | CA386777894 | PTPN11 | c.226G>T (p.Glu76Ter) c.223G>T (p.Glu75Ter) | |
12 | g.112450406_112450407delinsAT | CA645580460 | PTPN11 | c.226_227delinsAT (p.Glu76Met) c.223_224delinsAT (p.Glu75Met) | COSMIC |
12 | g.112450407A= | CA2063740301 | PTPN11 | c.227A= (p.Glu76=) c.224A= (p.Glu75=) | |
12 | g.112450407A>C | CA123047 | PTPN11 | c.227A>C (p.Glu76Ala) c.224A>C (p.Glu75Ala) | ClinVar dbSNP COSMIC |
12 | g.112450407A>G | CA123044 | PTPN11 | c.227A>G (p.Glu76Gly) c.224A>G (p.Glu75Gly) | ClinVar dbSNP COSMIC |
12 | g.112450407A>T | CA123041 | PTPN11 | c.227A>T (p.Glu76Val) c.224A>T (p.Glu75Val) | ClinVar dbSNP COSMIC |
12 | g.112450408G>A | CA481881807 | PTPN11 | c.228G>A (p.Glu76=) c.225G>A (p.Glu75=) | ClinVar dbSNP |
12 | g.112450408G>C | CA261577 | PTPN11 | c.228G>C (p.Glu76Asp) c.225G>C (p.Glu75Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.112450408G= | CA2063740325 | PTPN11 | c.228G= (p.Glu76=) c.225G= (p.Glu75=) | |
12 | g.112450408G>T | CA261580 | PTPN11 | c.228G>T (p.Glu76Asp) c.225G>T (p.Glu75Asp) | ClinVar dbSNP |
12 | g.112450409T>A | CA386777897 | PTPN11 | c.229T>A (p.Leu77Met) c.226T>A (p.Leu76Met) | dbSNP |
12 | g.112450409T>C | CA481881808 | PTPN11 | c.229T>C (p.Leu77=) c.226T>C (p.Leu76=) | dbSNP |
12 | g.112450409T>G | CA386777899 | PTPN11 | c.229T>G (p.Leu77Val) c.226T>G (p.Leu76Val) | dbSNP COSMIC |
12 | g.112450410T>A | CA386777904 | PTPN11 | c.230T>A (p.Leu77Ter) c.227T>A (p.Leu76Ter) | |
12 | g.112450410T>C | CA386777905 | PTPN11 | c.230T>C (p.Leu77Ser) c.227T>C (p.Leu76Ser) | |
12 | g.112450410T>G | CA386777901 | PTPN11 | c.230T>G (p.Leu77Trp) c.227T>G (p.Leu76Trp) | |
12 | g.112450411G>A | CA481881810 | PTPN11 | c.231G>A (p.Leu77=) c.228G>A (p.Leu76=) | ClinVar dbSNP gnomAD v4 |
12 | g.112450411G>C | CA386777908 | PTPN11 | c.231G>C (p.Leu77Phe) c.228G>C (p.Leu76Phe) | dbSNP |
12 | g.112450411G= | CA2063740334 | PTPN11 | c.231G= (p.Leu77=) c.228G= (p.Leu76=) | |
12 | g.112450411G>T | CA386777911 | PTPN11 | c.231G>T (p.Leu77Phe) c.228G>T (p.Leu76Phe) | dbSNP |
12 | g.112450412del | CA2727232089 | PTPN11 | c.232del (p.Val78SerfsTer11) c.229del (p.Val77SerfsTer11) | dbSNP |
12 | g.112450412G>A | CA386777912 | PTPN11 | c.232G>A (p.Val78Ile) c.229G>A (p.Val77Ile) | gnomAD v4 COSMIC |
12 | g.112450412G>C | CA386777913 | PTPN11 | c.232G>C (p.Val78Leu) c.229G>C (p.Val77Leu) | |
12 | g.112450412G>T | CA386777915 | PTPN11 | c.232G>T (p.Val78Phe) c.229G>T (p.Val77Phe) | |
12 | g.112450413T>A | CA386777917 | PTPN11 | c.233T>A (p.Val78Asp) c.230T>A (p.Val77Asp) | |
12 | g.112450413T>C | CA386777919 | PTPN11 | c.233T>C (p.Val78Ala) c.230T>C (p.Val77Ala) | |
12 | g.112450413T>G | CA386777920 | PTPN11 | c.233T>G (p.Val78Gly) c.230T>G (p.Val77Gly) | |
12 | g.112450414C>A | CA481881811 | PTPN11 | c.234C>A (p.Val78=) c.231C>A (p.Val77=) | dbSNP |
12 | g.112450414C>G | CA481881812 | PTPN11 | c.234C>G (p.Val78=) c.231C>G (p.Val77=) | dbSNP |
12 | g.112450414C>T | CA481881814 | PTPN11 | c.234C>T (p.Val78=) c.231C>T (p.Val77=) | dbSNP |
12 | g.112450415C>A | CA261581 | PTPN11 | c.235C>A (p.Gln79Lys) c.232C>A (p.Gln78Lys) | ClinVar dbSNP |
12 | g.112450415C= | CA2063740338 | PTPN11 | c.235C= (p.Gln79=) c.232C= (p.Gln78=) | |
12 | g.112450415C>G | CA386777921 | PTPN11 | c.235C>G (p.Gln79Glu) c.232C>G (p.Gln78Glu) | dbSNP |
12 | g.112450415C>T | CA386777922 | PTPN11 | c.235C>T (p.Gln79Ter) c.232C>T (p.Gln78Ter) | dbSNP |
12 | g.112450416A= | CA2063740346 | PTPN11 | c.236A= (p.Gln79=) c.233A= (p.Gln78=) | |
12 | g.112450416A>C | CA386777926 | PTPN11 | c.236A>C (p.Gln79Pro) c.233A>C (p.Gln78Pro) | ClinVar gnomAD v4 |
12 | g.112450416A>G | CA235322 | PTPN11 | c.236A>G (p.Gln79Arg) c.233A>G (p.Gln78Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112450416A>T | CA386777923 | PTPN11 | c.236A>T (p.Gln79Leu) c.233A>T (p.Gln78Leu) | dbSNP |
12 | g.112450417G>A | CA481881815 | PTPN11 | c.237G>A (p.Gln79=) c.234G>A (p.Gln78=) | dbSNP |
12 | g.112450417G>C | CA6798533 | PTPN11 | c.237G>C (p.Gln79His) c.234G>C (p.Gln78His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112450417G= | CA2063740355 | PTPN11 | c.237G= (p.Gln79=) c.234G= (p.Gln78=) | |
12 | g.112450417G>T | CA386777930 | PTPN11 | c.237G>T (p.Gln79His) c.234G>T (p.Gln78His) | COSMIC |
12 | g.112450418T>A | CA386777931 | PTPN11 | c.238T>A (p.Tyr80Asn) c.235T>A (p.Tyr79Asn) | dbSNP |
12 | g.112450418T>C | CA386777932 | PTPN11 | c.238T>C (p.Tyr80His) c.235T>C (p.Tyr79His) | |
12 | g.112450418T>G | CA386777933 | PTPN11 | c.238T>G (p.Tyr80Asp) c.235T>G (p.Tyr79Asp) | dbSNP |
12 | g.112450419A>C | CA386777934 | PTPN11 | c.239A>C (p.Tyr80Ser) c.236A>C (p.Tyr79Ser) | |
12 | g.112450419A>G | CA386777935 | PTPN11 | c.239A>G (p.Tyr80Cys) c.236A>G (p.Tyr79Cys) |