Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.112450419A>T | CA386777936 | PTPN11 | c.239A>T (p.Tyr80Phe) c.236A>T (p.Tyr79Phe) | |
12 | g.112450420T>A | CA386777938 | PTPN11 | c.240T>A (p.Tyr80Ter) c.237T>A (p.Tyr79Ter) | |
12 | g.112450420T>C | CA481881818 | PTPN11 | c.240T>C (p.Tyr80=) c.237T>C (p.Tyr79=) | dbSNP gnomAD v4 |
12 | g.112450420T>G | CA386777940 | PTPN11 | c.240T>G (p.Tyr80Ter) c.237T>G (p.Tyr79Ter) | |
12 | g.112450421T>A | CA386777941 | PTPN11 | c.241T>A (p.Tyr81Asn) c.238T>A (p.Tyr80Asn) | dbSNP |
12 | g.112450421T>C | CA386777943 | PTPN11 | c.241T>C (p.Tyr81His) c.238T>C (p.Tyr80His) | |
12 | g.112450421T>G | CA386777945 | PTPN11 | c.241T>G (p.Tyr81Asp) c.238T>G (p.Tyr80Asp) | dbSNP |
12 | g.112450422A>C | CA386777948 | PTPN11 | c.242A>C (p.Tyr81Ser) c.239A>C (p.Tyr80Ser) | |
12 | g.112450422A>G | CA386777951 | PTPN11 | c.242A>G (p.Tyr81Cys) c.239A>G (p.Tyr80Cys) | dbSNP |
12 | g.112450422A>T | CA386777947 | PTPN11 | c.242A>T (p.Tyr81Phe) c.239A>T (p.Tyr80Phe) | dbSNP |
12 | g.112450423C>A | CA386777954 | PTPN11 | c.243C>A (p.Tyr81Ter) c.240C>A (p.Tyr80Ter) | dbSNP |
12 | g.112450423C>G | CA386777952 | PTPN11 | c.243C>G (p.Tyr81Ter) c.240C>G (p.Tyr80Ter) | dbSNP |
12 | g.112450423C>T | CA481881821 | PTPN11 | c.243C>T (p.Tyr81=) c.240C>T (p.Tyr80=) | dbSNP |
12 | g.112450424A= | CA2063740362 | PTPN11 | c.244A= (p.Met82=) c.241A= (p.Met81=) | |
12 | g.112450424A>C | CA386777957 | PTPN11 | c.244A>C (p.Met82Leu) c.241A>C (p.Met81Leu) | |
12 | g.112450424A>G | CA243279 | PTPN11 | c.244A>G (p.Met82Val) c.241A>G (p.Met81Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112450424A>T | CA386777959 | PTPN11 | c.244A>T (p.Met82Leu) c.241A>T (p.Met81Leu) | dbSNP |
12 | g.112450425T>A | CA386777961 | PTPN11 | c.245T>A (p.Met82Lys) c.242T>A (p.Met81Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112450425T>C | CA386777964 | PTPN11 | c.245T>C (p.Met82Thr) c.242T>C (p.Met81Thr) | COSMIC |
12 | g.112450425T>G | CA386777966 | PTPN11 | c.245T>G (p.Met82Arg) c.242T>G (p.Met81Arg) | |
12 | g.112450425T= | CA2063740366 | PTPN11 | c.245T= (p.Met82=) c.242T= (p.Met81=) | |
12 | g.112450426G>A | CA243707920 | PTPN11 | c.246G>A (p.Met82Ile) c.243G>A (p.Met81Ile) | dbSNP gnomAD v4 |
12 | g.112450426G>C | CA386777970 | PTPN11 | c.246G>C (p.Met82Ile) c.243G>C (p.Met81Ile) | ClinVar dbSNP |
12 | g.112450426G= | CA2063740377 | PTPN11 | c.246G= (p.Met82=) c.243G= (p.Met81=) | |
12 | g.112450426G>T | CA386777972 | PTPN11 | c.246G>T (p.Met82Ile) c.243G>T (p.Met81Ile) | dbSNP |
12 | g.112450427G>A | CA386777974 | PTPN11 | c.247G>A (p.Glu83Lys) c.244G>A (p.Glu82Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112450427G>C | CA386777976 | PTPN11 | c.247G>C (p.Glu83Gln) c.244G>C (p.Glu82Gln) | |
12 | g.112450427G= | CA2063740384 | PTPN11 | c.247G= (p.Glu83=) c.244G= (p.Glu82=) | |
12 | g.112450427G>T | CA386777979 | PTPN11 | c.247G>T (p.Glu83Ter) c.244G>T (p.Glu82Ter) | |
12 | g.112450428A>C | CA386777982 | PTPN11 | c.248A>C (p.Glu83Ala) c.245A>C (p.Glu82Ala) | |
12 | g.112450428A>G | CA386777986 | PTPN11 | c.248A>G (p.Glu83Gly) c.245A>G (p.Glu82Gly) | dbSNP gnomAD v4 |
12 | g.112450428A>T | CA386777984 | PTPN11 | c.248A>T (p.Glu83Val) c.245A>T (p.Glu82Val) | dbSNP |
12 | g.112450429A>C | CA386777988 | PTPN11 | c.249A>C (p.Glu83Asp) c.246A>C (p.Glu82Asp) | |
12 | g.112450429A>G | CA481881826 | PTPN11 | c.249A>G (p.Glu83=) c.246A>G (p.Glu82=) | COSMIC |
12 | g.112450429A>T | CA386777991 | PTPN11 | c.249A>T (p.Glu83Asp) c.246A>T (p.Glu82Asp) | dbSNP |
12 | g.112450430C>A | CA386777993 | PTPN11 | c.250C>A (p.His84Asn) c.247C>A (p.His83Asn) | dbSNP |
12 | g.112450430C>G | CA386777996 | PTPN11 | c.250C>G (p.His84Asp) c.247C>G (p.His83Asp) | dbSNP |