Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477795C>A | CA2727174343 | PTPN11 | c.934-62C>A (n.934-62C>A) c.820-62C>A (n.820-62C>A) c.931-62C>A (n.931-62C>A) | dbSNP |
12 | g.112477795C= | CA2063775869 | PTPN11 | c.934-62C= (n.934-62C=) c.820-62C= (n.820-62C=) c.931-62C= (n.931-62C=) | |
12 | g.112477795C>G | CA2727174344 | PTPN11 | c.934-62C>G (n.934-62C>G) c.820-62C>G (n.820-62C>G) c.931-62C>G (n.931-62C>G) | dbSNP |
12 | g.112477795C>T | CA2063775870 | PTPN11 | c.934-62C>T (n.934-62C>T) c.820-62C>T (n.820-62C>T) c.931-62C>T (n.931-62C>T) | dbSNP gnomAD v4 |
12 | g.112477796C>A | CA2727226091 | PTPN11 | c.934-61C>A (n.934-61C>A) c.820-61C>A (n.820-61C>A) c.931-61C>A (n.931-61C>A) | dbSNP |
12 | g.112477796C>T | CA2575298975 | PTPN11 | c.934-61C>T (n.934-61C>T) c.820-61C>T (n.820-61C>T) c.931-61C>T (n.931-61C>T) | gnomAD v4 |
12 | g.112477797T>C | CA2727226092 | PTPN11 | c.934-60T>C (n.934-60T>C) c.820-60T>C (n.820-60T>C) c.931-60T>C (n.931-60T>C) | dbSNP |
12 | g.112477798T>A | CA2695217420 | PTPN11 | c.934-59T>A (n.934-59T>A) c.820-59T>A (n.820-59T>A) c.931-59T>A (n.931-59T>A) | |
12 | g.112477798T>C | CA2575298976 | PTPN11 | c.934-59T>C (n.934-59T>C) c.820-59T>C (n.820-59T>C) c.931-59T>C (n.931-59T>C) | |
12 | g.112477799C>A | CA2727226094 | PTPN11 | c.934-58C>A (n.934-58C>A) c.820-58C>A (n.820-58C>A) c.931-58C>A (n.931-58C>A) | dbSNP |
12 | g.112477799C>G | CA2727226097 | PTPN11 | c.934-58C>G (n.934-58C>G) c.820-58C>G (n.820-58C>G) c.931-58C>G (n.931-58C>G) | dbSNP |
12 | g.112477799C>T | CA2727226093 | PTPN11 | c.934-58C>T (n.934-58C>T) c.820-58C>T (n.820-58C>T) c.931-58C>T (n.931-58C>T) | dbSNP |
12 | g.112477800C>A | CA2727059367 | PTPN11 | c.934-57C>A (n.934-57C>A) c.820-57C>A (n.820-57C>A) c.931-57C>A (n.931-57C>A) | dbSNP |
12 | g.112477800C= | CA2063775871 | PTPN11 | c.934-57C= (n.934-57C=) c.820-57C= (n.820-57C=) c.931-57C= (n.931-57C=) | |
12 | g.112477800C>T | CA243711978 | PTPN11 | c.934-57C>T (n.934-57C>T) c.820-57C>T (n.820-57C>T) c.931-57C>T (n.931-57C>T) | dbSNP gnomAD v4 |
12 | g.112477802C>G | CA2621024645 | PTPN11 | c.934-55C>G (n.934-55C>G) c.820-55C>G (n.820-55C>G) c.931-55C>G (n.931-55C>G) | gnomAD v4 |
12 | g.112477802C>T | CA2621024646 | PTPN11 | c.934-55C>T (n.934-55C>T) c.820-55C>T (n.820-55C>T) c.931-55C>T (n.931-55C>T) | gnomAD v4 |
12 | g.112477802_112477805del | CA2846864097 | PTPN11 | c.934-55_934-52del (n.934-55_934-52del) c.820-55_820-52del (n.820-55_820-52del) c.931-55_931-52del (n.931-55_931-52del) | |
12 | g.112477805G>C | CA2063775874 | PTPN11 | c.934-52G>C (n.934-52G>C) c.820-52G>C (n.820-52G>C) c.931-52G>C (n.931-52G>C) | dbSNP |
12 | g.112477805G= | CA2063775873 | PTPN11 | c.934-52G= (n.934-52G=) c.820-52G= (n.820-52G=) c.931-52G= (n.931-52G=) | |
12 | g.112477807C>A | CA6798683 | PTPN11 | c.934-50C>A (n.934-50C>A) c.820-50C>A (n.820-50C>A) c.931-50C>A (n.931-50C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477807C= | CA2063775875 | PTPN11 | c.934-50C= (n.934-50C=) c.820-50C= (n.820-50C=) c.931-50C= (n.931-50C=) | |
12 | g.112477809T>G | CA607604976 | PTPN11 | c.934-48T>G (n.934-48T>G) c.820-48T>G (n.820-48T>G) c.931-48T>G (n.931-48T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477809T= | CA2063775878 | PTPN11 | c.934-48T= (n.934-48T=) c.820-48T= (n.820-48T=) c.931-48T= (n.931-48T=) | |
12 | g.112477810G>A | CA2846864098 | PTPN11 | c.934-47G>A (n.934-47G>A) c.820-47G>A (n.820-47G>A) c.931-47G>A (n.931-47G>A) | |
12 | g.112477810G>T | CA2575298979 | PTPN11 | c.934-47G>T (n.934-47G>T) c.820-47G>T (n.820-47G>T) c.931-47G>T (n.931-47G>T) | |
12 | g.112477811A= | CA2063775880 | PTPN11 | c.934-46A= (n.934-46A=) c.820-46A= (n.820-46A=) c.931-46A= (n.931-46A=) | |
12 | g.112477811A>G | CA243711983 | PTPN11 | c.934-46A>G (n.934-46A>G) c.820-46A>G (n.820-46A>G) c.931-46A>G (n.931-46A>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477814G>A | CA2621024647 | PTPN11 | c.934-43G>A (n.934-43G>A) c.820-43G>A (n.820-43G>A) c.931-43G>A (n.931-43G>A) | gnomAD v4 |
12 | g.112477815T>C | CA2621024648 | PTPN11 | c.934-42T>C (n.934-42T>C) c.820-42T>C (n.820-42T>C) c.931-42T>C (n.931-42T>C) | gnomAD v4 |
12 | g.112477816A>T | CA2575298980 | PTPN11 | c.934-41A>T (n.934-41A>T) c.820-41A>T (n.820-41A>T) c.931-41A>T (n.931-41A>T) | |
12 | g.112477817A>G | CA2575298982 | PTPN11 | c.934-40A>G (n.934-40A>G) c.820-40A>G (n.820-40A>G) c.931-40A>G (n.931-40A>G) | |
12 | g.112477818C= | CA2063775885 | PTPN11 | c.934-39C= (n.934-39C=) c.820-39C= (n.820-39C=) c.931-39C= (n.931-39C=) | |
12 | g.112477818C>G | CA2621024649 | PTPN11 | c.934-39C>G (n.934-39C>G) c.820-39C>G (n.820-39C>G) c.931-39C>G (n.931-39C>G) | gnomAD v4 |
12 | g.112477818C>T | CA683695840 | PTPN11 | c.934-39C>T (n.934-39C>T) c.820-39C>T (n.820-39C>T) c.931-39C>T (n.931-39C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477818_112477819delinsCT | CA2063775883 | PTPN11 | c.934-39_934-38delinsCT (n.934-39_934-38delinsCT) c.820-39_820-38delinsCT (n.820-39_820-38delinsCT) c.931-39_931-38delinsCT (n.931-39_931-38delinsCT) | |
12 | g.112477821del | CA6798684 | PTPN11 | c.934-36del (n.934-36del) c.820-36del (n.820-36del) c.931-36del (n.931-36del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477821T>C | CA2621024650 | PTPN11 | c.934-36T>C (n.934-36T>C) c.820-36T>C (n.820-36T>C) c.931-36T>C (n.931-36T>C) | gnomAD v4 |
12 | g.112477822A>C | CA2575298984 | PTPN11 | c.934-35A>C (n.934-35A>C) c.820-35A>C (n.820-35A>C) c.931-35A>C (n.931-35A>C) | |
12 | g.112477824G>A | CA2063775891 | PTPN11 | c.934-33G>A (n.934-33G>A) c.820-33G>A (n.820-33G>A) c.931-33G>A (n.931-33G>A) | dbSNP |
12 | g.112477824G= | CA2063775890 | PTPN11 | c.934-33G= (n.934-33G=) c.820-33G= (n.820-33G=) c.931-33G= (n.931-33G=) | |
12 | g.112477824G>T | CA2621024651 | PTPN11 | c.934-33G>T (n.934-33G>T) c.820-33G>T (n.820-33G>T) c.931-33G>T (n.931-33G>T) | gnomAD v4 |
12 | g.112477825G>A | CA6798685 | PTPN11 | c.934-32G>A (n.934-32G>A) c.820-32G>A (n.820-32G>A) c.931-32G>A (n.931-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477825G= | CA2063775893 | PTPN11 | c.934-32G= (n.934-32G=) c.820-32G= (n.820-32G=) c.931-32G= (n.931-32G=) | |
12 | g.112477825G>T | CA2575298987 | PTPN11 | c.934-32G>T (n.934-32G>T) c.820-32G>T (n.820-32G>T) c.931-32G>T (n.931-32G>T) | dbSNP |
12 | g.112477828T>A | CA2621024652 | PTPN11 | c.934-29T>A (n.934-29T>A) c.820-29T>A (n.820-29T>A) c.931-29T>A (n.931-29T>A) | gnomAD v4 |
12 | g.112477831G>A | CA2621024653 | PTPN11 | c.934-26G>A (n.934-26G>A) c.820-26G>A (n.820-26G>A) c.931-26G>A (n.931-26G>A) | gnomAD v4 |
12 | g.112477831G>T | CA2621024654 | PTPN11 | c.934-26G>T (n.934-26G>T) c.820-26G>T (n.820-26G>T) c.931-26G>T (n.931-26G>T) | gnomAD v4 |
12 | g.112477833A= | CA2063775895 | PTPN11 | c.934-24A= (n.934-24A=) c.820-24A= (n.820-24A=) c.931-24A= (n.931-24A=) | |
12 | g.112477833A>C | CA2621024655 | PTPN11 | c.934-24A>C (n.934-24A>C) c.820-24A>C (n.820-24A>C) c.931-24A>C (n.931-24A>C) | gnomAD v4 |
12 | g.112477833A>G | CA6798686 | PTPN11 | c.934-24A>G (n.934-24A>G) c.820-24A>G (n.820-24A>G) c.931-24A>G (n.931-24A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477834G>A | CA243711990 | PTPN11 | c.934-23G>A (n.934-23G>A) c.820-23G>A (n.820-23G>A) c.931-23G>A (n.931-23G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477834G>C | CA2727070186 | PTPN11 | c.934-23G>C (n.934-23G>C) c.820-23G>C (n.820-23G>C) c.931-23G>C (n.931-23G>C) | dbSNP |
12 | g.112477834G= | CA2063775898 | PTPN11 | c.934-23G= (n.934-23G=) c.820-23G= (n.820-23G=) c.931-23G= (n.931-23G=) | |
12 | g.112477839T>A | CA2621024656 | PTPN11 | c.934-18T>A (n.934-18T>A) c.820-18T>A (n.820-18T>A) c.931-18T>A (n.931-18T>A) | gnomAD v4 |
12 | g.112477840T>C | CA6798687 | PTPN11 | c.934-17T>C (n.934-17T>C) c.820-17T>C (n.820-17T>C) c.931-17T>C (n.931-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477840T= | CA2063775900 | PTPN11 | c.934-17T= (n.934-17T=) c.820-17T= (n.820-17T=) c.931-17T= (n.931-17T=) | |
12 | g.112477843_112477844delinsTC | CA2063775902 | PTPN11 | c.934-14_934-13delinsTC (n.934-14_934-13delinsTC) c.820-14_820-13delinsTC (n.820-14_820-13delinsTC) c.931-14_931-13delinsTC (n.931-14_931-13delinsTC) | |
12 | g.112477845del | CA919176248 | PTPN11 | c.934-12del (n.934-12del) c.820-12del (n.820-12del) c.931-12del (n.931-12del) | ClinVar dbSNP gnomAD v4 |
12 | g.112477845C= | CA2063775905 | PTPN11 | c.934-12C= (n.934-12C=) c.820-12C= (n.820-12C=) c.931-12C= (n.931-12C=) | |
12 | g.112477845C>T | CA297068 | PTPN11 | c.934-12C>T (n.934-12C>T) c.820-12C>T (n.820-12C>T) c.931-12C>T (n.931-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477847A= | CA2063775911 | PTPN11 | c.934-10A= (n.934-10A=) c.820-10A= (n.820-10A=) c.931-10A= (n.931-10A=) | |
12 | g.112477847A>G | CA6798688 | PTPN11 | c.934-10A>G (n.934-10A>G) c.820-10A>G (n.820-10A>G) c.931-10A>G (n.931-10A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477853C>G | CA2621024657 | PTPN11 | c.934-4C>G (n.934-4C>G) c.820-4C>G (n.820-4C>G) c.931-4C>G (n.931-4C>G) | gnomAD v4 |
12 | g.112477855A>C | CA386790961 | PTPN11 | c.934-2A>C (n.934-2A>C) c.820-2A>C (n.820-2A>C) c.931-2A>C (n.931-2A>C) | |
12 | g.112477855A>G | CA386790958 | PTPN11 | c.934-2A>G (n.934-2A>G) c.820-2A>G (n.820-2A>G) c.931-2A>G (n.931-2A>G) | |
12 | g.112477855A>T | CA386790960 | PTPN11 | c.934-2A>T (n.934-2A>T) c.820-2A>T (n.820-2A>T) c.931-2A>T (n.931-2A>T) | |
12 | g.112477856G>A | CA386790964 | PTPN11 | c.934-1G>A (n.934-1G>A) c.820-1G>A (n.820-1G>A) c.931-1G>A (n.931-1G>A) | |
12 | g.112477856G>C | CA386790967 | PTPN11 | c.934-1G>C (n.934-1G>C) c.820-1G>C (n.820-1G>C) c.931-1G>C (n.931-1G>C) | |
12 | g.112477856G>T | CA386790970 | PTPN11 | c.934-1G>T (n.934-1G>T) c.820-1G>T (n.820-1G>T) c.931-1G>T (n.931-1G>T) | |
12 | g.112477857C>A | CA386790977 | PTPN11 | c.934C>A (p.Pro312Thr) c.820C>A (p.Pro274Thr) c.931C>A (p.Pro311Thr) | ClinVar dbSNP gnomAD v4 |
12 | g.112477857C= | CA2063775913 | PTPN11 | c.934C= (p.Pro312=) c.820C= (p.Pro274=) c.931C= (p.Pro311=) | |
12 | g.112477857C>G | CA386790978 | PTPN11 | c.934C>G (p.Pro312Ala) c.820C>G (p.Pro274Ala) c.931C>G (p.Pro311Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477857C>T | CA386790980 | PTPN11 | c.934C>T (p.Pro312Ser) c.820C>T (p.Pro274Ser) c.931C>T (p.Pro311Ser) | |
12 | g.112477858C>A | CA386790988 | PTPN11 | c.935C>A (p.Pro312His) c.821C>A (p.Pro274His) c.932C>A (p.Pro311His) | |
12 | g.112477858C= | CA2063775917 | PTPN11 | c.935C= (p.Pro312=) c.821C= (p.Pro274=) c.932C= (p.Pro311=) | |
12 | g.112477858C>G | CA386790986 | PTPN11 | c.935C>G (p.Pro312Arg) c.821C>G (p.Pro274Arg) c.932C>G (p.Pro311Arg) | |
12 | g.112477858C>T | CA386790985 | PTPN11 | c.935C>T (p.Pro312Leu) c.821C>T (p.Pro274Leu) c.932C>T (p.Pro311Leu) | dbSNP gnomAD v4 |
12 | g.112477859T>A | CA481887771 | PTPN11 | c.936T>A (p.Pro312=) c.822T>A (p.Pro274=) c.933T>A (p.Pro311=) | |
12 | g.112477859T>C | CA481887767 | PTPN11 | c.936T>C (p.Pro312=) c.822T>C (p.Pro274=) c.933T>C (p.Pro311=) | |
12 | g.112477859T>G | CA481887770 | PTPN11 | c.936T>G (p.Pro312=) c.822T>G (p.Pro274=) c.933T>G (p.Pro311=) | |
12 | g.112477860G>A | CA386790990 | PTPN11 | c.937G>A (p.Glu313Lys) c.823G>A (p.Glu275Lys) c.934G>A (p.Glu312Lys) | gnomAD v4 |
12 | g.112477860G>C | CA386790993 | PTPN11 | c.937G>C (p.Glu313Gln) c.823G>C (p.Glu275Gln) c.934G>C (p.Glu312Gln) | |
12 | g.112477860G>T | CA386790996 | PTPN11 | c.937G>T (p.Glu313Ter) c.823G>T (p.Glu275Ter) c.934G>T (p.Glu312Ter) | COSMIC |
12 | g.112477861A= | CA2063775921 | PTPN11 | c.938A= (p.Glu313=) c.824A= (p.Glu275=) c.935A= (p.Glu312=) | |
12 | g.112477861A>C | CA386790999 | PTPN11 | c.938A>C (p.Glu313Ala) c.824A>C (p.Glu275Ala) c.935A>C (p.Glu312Ala) | |
12 | g.112477861A>G | CA386791000 | PTPN11 | c.938A>G (p.Glu313Gly) c.824A>G (p.Glu275Gly) c.935A>G (p.Glu312Gly) | |
12 | g.112477861A>T | CA386791001 | PTPN11 | c.938A>T (p.Glu313Val) c.824A>T (p.Glu275Val) c.935A>T (p.Glu312Val) | dbSNP |
12 | g.112477862A= | CA2063775925 | PTPN11 | c.939A= (p.Glu313=) c.825A= (p.Glu275=) c.936A= (p.Glu312=) | |
12 | g.112477862A>C | CA386791003 | PTPN11 | c.939A>C (p.Glu313Asp) c.825A>C (p.Glu275Asp) c.936A>C (p.Glu312Asp) | |
12 | g.112477862A>G | CA6798689 | PTPN11 | c.939A>G (p.Glu313=) c.825A>G (p.Glu275=) c.936A>G (p.Glu312=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477862A>T | CA386791005 | PTPN11 | c.939A>T (p.Glu313Asp) c.825A>T (p.Glu275Asp) c.936A>T (p.Glu312Asp) | |
12 | g.112477863T>A | CA386791009 | PTPN11 | c.940T>A (p.Phe314Ile) c.826T>A (p.Phe276Ile) c.937T>A (p.Phe313Ile) | |
12 | g.112477863T>C | CA243712000 | PTPN11 | c.940T>C (p.Phe314Leu) c.826T>C (p.Phe276Leu) c.937T>C (p.Phe313Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477863T>G | CA386791010 | PTPN11 | c.940T>G (p.Phe314Val) c.826T>G (p.Phe276Val) c.937T>G (p.Phe313Val) | |
12 | g.112477863T= | CA2063775931 | PTPN11 | c.940T= (p.Phe314=) c.826T= (p.Phe276=) c.937T= (p.Phe313=) | |
12 | g.112477865del | CA2727226114 | PTPN11 | c.942del (p.Phe314LeufsTer25) c.828del (p.Phe276LeufsTer25) c.939del (p.Phe313LeufsTer25) | dbSNP |
12 | g.112477864T>A | CA386791012 | PTPN11 | c.941T>A (p.Phe314Tyr) c.827T>A (p.Phe276Tyr) c.938T>A (p.Phe313Tyr) | |
12 | g.112477864T>C | CA386791013 | PTPN11 | c.941T>C (p.Phe314Ser) c.827T>C (p.Phe276Ser) c.938T>C (p.Phe313Ser) | |
12 | g.112477864T>G | CA386791014 | PTPN11 | c.941T>G (p.Phe314Cys) c.827T>G (p.Phe276Cys) c.938T>G (p.Phe313Cys) | |
12 | g.112477865T>A | CA386791017 | PTPN11 | c.942T>A (p.Phe314Leu) c.828T>A (p.Phe276Leu) c.939T>A (p.Phe313Leu) | |
12 | g.112477865T>C | CA481887781 | PTPN11 | c.942T>C (p.Phe314=) c.828T>C (p.Phe276=) c.939T>C (p.Phe313=) | |
12 | g.112477865T>G | CA386791020 | PTPN11 | c.942T>G (p.Phe314Leu) c.828T>G (p.Phe276Leu) c.939T>G (p.Phe313Leu) | |
12 | g.112477866G>A | CA386791022 | PTPN11 | c.943G>A (p.Glu315Lys) c.829G>A (p.Glu277Lys) c.940G>A (p.Glu314Lys) | |
12 | g.112477866G>C | CA386791025 | PTPN11 | c.943G>C (p.Glu315Gln) c.829G>C (p.Glu277Gln) c.940G>C (p.Glu314Gln) | |
12 | g.112477866G>T | CA386791028 | PTPN11 | c.943G>T (p.Glu315Ter) c.829G>T (p.Glu277Ter) c.940G>T (p.Glu314Ter) | |
12 | g.112477867A>C | CA386791030 | PTPN11 | c.944A>C (p.Glu315Ala) c.830A>C (p.Glu277Ala) c.941A>C (p.Glu314Ala) | |
12 | g.112477867A>G | CA386791037 | PTPN11 | c.944A>G (p.Glu315Gly) c.830A>G (p.Glu277Gly) c.941A>G (p.Glu314Gly) | |
12 | g.112477867A>T | CA386791034 | PTPN11 | c.944A>T (p.Glu315Val) c.830A>T (p.Glu277Val) c.941A>T (p.Glu314Val) | |
12 | g.112477868A>C | CA386791039 | PTPN11 | c.945A>C (p.Glu315Asp) c.831A>C (p.Glu277Asp) c.942A>C (p.Glu314Asp) | |
12 | g.112477868A>G | CA481887785 | PTPN11 | c.945A>G (p.Glu315=) c.831A>G (p.Glu277=) c.942A>G (p.Glu314=) | gnomAD v4 |
12 | g.112477868A>T | CA386791042 | PTPN11 | c.945A>T (p.Glu315Asp) c.831A>T (p.Glu277Asp) c.942A>T (p.Glu314Asp) | |
12 | g.112477869A>C | CA386791046 | PTPN11 | c.946A>C (p.Thr316Pro) c.832A>C (p.Thr278Pro) c.943A>C (p.Thr315Pro) | |
12 | g.112477869A>G | CA386791049 | PTPN11 | c.946A>G (p.Thr316Ala) c.832A>G (p.Thr278Ala) c.943A>G (p.Thr315Ala) | |
12 | g.112477869A>T | CA386791054 | PTPN11 | c.946A>T (p.Thr316Ser) c.832A>T (p.Thr278Ser) c.943A>T (p.Thr315Ser) | |
12 | g.112477870C>A | CA386791058 | PTPN11 | c.947C>A (p.Thr316Asn) c.833C>A (p.Thr278Asn) c.944C>A (p.Thr315Asn) | |
12 | g.112477870C= | CA2063775938 | PTPN11 | c.947C= (p.Thr316=) c.833C= (p.Thr278=) c.944C= (p.Thr315=) | |
12 | g.112477870C>G | CA386791059 | PTPN11 | c.947C>G (p.Thr316Ser) c.833C>G (p.Thr278Ser) c.944C>G (p.Thr315Ser) | |
12 | g.112477870C>T | CA6798690 | PTPN11 | c.947C>T (p.Thr316Ile) c.833C>T (p.Thr278Ile) c.944C>T (p.Thr315Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477871C>A | CA481887791 | PTPN11 | c.948C>A (p.Thr316=) c.834C>A (p.Thr278=) c.945C>A (p.Thr315=) | |
12 | g.112477871C= | CA2063775940 | PTPN11 | c.948C= (p.Thr316=) c.834C= (p.Thr278=) c.945C= (p.Thr315=) | |
12 | g.112477871C>G | CA481887792 | PTPN11 | c.948C>G (p.Thr316=) c.834C>G (p.Thr278=) c.945C>G (p.Thr315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477871C>T | CA481887793 | PTPN11 | c.948C>T (p.Thr316=) c.834C>T (p.Thr278=) c.945C>T (p.Thr315=) | |
12 | g.112477872A>C | CA386791061 | PTPN11 | c.949A>C (p.Lys317Gln) c.835A>C (p.Lys279Gln) c.946A>C (p.Lys316Gln) | |
12 | g.112477872A>G | CA386791063 | PTPN11 | c.949A>G (p.Lys317Glu) c.835A>G (p.Lys279Glu) c.946A>G (p.Lys316Glu) | |
12 | g.112477872A>T | CA386791065 | PTPN11 | c.949A>T (p.Lys317Ter) c.835A>T (p.Lys279Ter) c.946A>T (p.Lys316Ter) | |
12 | g.112477873A>C | CA386791067 | PTPN11 | c.950A>C (p.Lys317Thr) c.836A>C (p.Lys279Thr) c.947A>C (p.Lys316Thr) | |
12 | g.112477873A>G | CA386791068 | PTPN11 | c.950A>G (p.Lys317Arg) c.836A>G (p.Lys279Arg) c.947A>G (p.Lys316Arg) | ClinVar |
12 | g.112477873A>T | CA386791069 | PTPN11 | c.950A>T (p.Lys317Met) c.836A>T (p.Lys279Met) c.947A>T (p.Lys316Met) | |
12 | g.112477874G>A | CA6798691 | PTPN11 | c.951G>A (p.Lys317=) c.837G>A (p.Lys279=) c.948G>A (p.Lys316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477874G>C | CA386791071 | PTPN11 | c.951G>C (p.Lys317Asn) c.837G>C (p.Lys279Asn) c.948G>C (p.Lys316Asn) | |
12 | g.112477874G= | CA2063775941 | PTPN11 | c.951G= (p.Lys317=) c.837G= (p.Lys279=) c.948G= (p.Lys316=) | |
12 | g.112477874G>T | CA386791073 | PTPN11 | c.951G>T (p.Lys317Asn) c.837G>T (p.Lys279Asn) c.948G>T (p.Lys316Asn) | |
12 | g.112477875T>A | CA386791077 | PTPN11 | c.952T>A (p.Cys318Ser) c.838T>A (p.Cys280Ser) c.949T>A (p.Cys317Ser) | |
12 | g.112477875T>C | CA386791084 | PTPN11 | c.952T>C (p.Cys318Arg) c.838T>C (p.Cys280Arg) c.949T>C (p.Cys317Arg) | |
12 | g.112477875T>G | CA386791087 | PTPN11 | c.952T>G (p.Cys318Gly) c.838T>G (p.Cys280Gly) c.949T>G (p.Cys317Gly) | |
12 | g.112477876G>A | CA6798692 | PTPN11 | c.953G>A (p.Cys318Tyr) c.839G>A (p.Cys280Tyr) c.950G>A (p.Cys317Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477876G>C | CA386791092 | PTPN11 | c.953G>C (p.Cys318Ser) c.839G>C (p.Cys280Ser) c.950G>C (p.Cys317Ser) | dbSNP |
12 | g.112477876G= | CA2063775942 | PTPN11 | c.953G= (p.Cys318=) c.839G= (p.Cys280=) c.950G= (p.Cys317=) | |
12 | g.112477876G>T | CA386791093 | PTPN11 | c.953G>T (p.Cys318Phe) c.839G>T (p.Cys280Phe) c.950G>T (p.Cys317Phe) | |
12 | g.112477877C>A | CA386791095 | PTPN11 | c.954C>A (p.Cys318Ter) c.840C>A (p.Cys280Ter) c.951C>A (p.Cys317Ter) | |
12 | g.112477877C>G | CA386791097 | PTPN11 | c.954C>G (p.Cys318Trp) c.840C>G (p.Cys280Trp) c.951C>G (p.Cys317Trp) | |
12 | g.112477877C>T | CA481887808 | PTPN11 | c.954C>T (p.Cys318=) c.840C>T (p.Cys280=) c.951C>T (p.Cys317=) | dbSNP gnomAD v4 |
12 | g.112477878A= | CA2063775943 | PTPN11 | c.955A= (p.Asn319=) c.841A= (p.Asn281=) c.952A= (p.Asn318=) | |
12 | g.112477878A>C | CA386791099 | PTPN11 | c.955A>C (p.Asn319His) c.841A>C (p.Asn281His) c.952A>C (p.Asn318His) | |
12 | g.112477878A>G | CA386791102 | PTPN11 | c.955A>G (p.Asn319Asp) c.841A>G (p.Asn281Asp) c.952A>G (p.Asn318Asp) | ClinVar dbSNP gnomAD v4 |
12 | g.112477878A>T | CA386791104 | PTPN11 | c.955A>T (p.Asn319Tyr) c.841A>T (p.Asn281Tyr) c.952A>T (p.Asn318Tyr) | dbSNP |
12 | g.112477879A= | CA2063775944 | PTPN11 | c.956A= (p.Asn319=) c.842A= (p.Asn281=) c.953A= (p.Asn318=) | |
12 | g.112477879A>C | CA386791108 | PTPN11 | c.956A>C (p.Asn319Thr) c.842A>C (p.Asn281Thr) c.953A>C (p.Asn318Thr) | |
12 | g.112477879A>G | CA386791109 | PTPN11 | c.956A>G (p.Asn319Ser) c.842A>G (p.Asn281Ser) c.953A>G (p.Asn318Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477879A>T | CA386791107 | PTPN11 | c.956A>T (p.Asn319Ile) c.842A>T (p.Asn281Ile) c.953A>T (p.Asn318Ile) | |
12 | g.112477880C>A | CA386791110 | PTPN11 | c.957C>A (p.Asn319Lys) c.843C>A (p.Asn281Lys) c.954C>A (p.Asn318Lys) | |
12 | g.112477880C= | CA2063775945 | PTPN11 | c.957C= (p.Asn319=) c.843C= (p.Asn281=) c.954C= (p.Asn318=) | |
12 | g.112477880C>G | CA386791112 | PTPN11 | c.957C>G (p.Asn319Lys) c.843C>G (p.Asn281Lys) c.954C>G (p.Asn318Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477880C>T | CA6798693 | PTPN11 | c.957C>T (p.Asn319=) c.843C>T (p.Asn281=) c.954C>T (p.Asn318=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.112477881A>C | CA386791118 | PTPN11 | c.958A>C (p.Asn320His) c.844A>C (p.Asn282His) c.955A>C (p.Asn319His) | |
12 | g.112477881A>G | CA386791119 | PTPN11 | c.958A>G (p.Asn320Asp) c.844A>G (p.Asn282Asp) c.955A>G (p.Asn319Asp) | gnomAD v4 |
12 | g.112477881A>T | CA386791122 | PTPN11 | c.958A>T (p.Asn320Tyr) c.844A>T (p.Asn282Tyr) c.955A>T (p.Asn319Tyr) | gnomAD v4 |
12 | g.112477882A= | CA2063775946 | PTPN11 | c.959A= (p.Asn320=) c.845A= (p.Asn282=) c.956A= (p.Asn319=) | |
12 | g.112477882A>C | CA386791132 | PTPN11 | c.959A>C (p.Asn320Thr) c.845A>C (p.Asn282Thr) c.956A>C (p.Asn319Thr) | |
12 | g.112477882A>G | CA386791125 | PTPN11 | c.959A>G (p.Asn320Ser) c.845A>G (p.Asn282Ser) c.956A>G (p.Asn319Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477882A>T | CA386791129 | PTPN11 | c.959A>T (p.Asn320Ile) c.845A>T (p.Asn282Ile) c.956A>T (p.Asn319Ile) | |
12 | g.112477883T>A | CA386791134 | PTPN11 | c.960T>A (p.Asn320Lys) c.846T>A (p.Asn282Lys) c.957T>A (p.Asn319Lys) | |
12 | g.112477883T>C | CA481887821 | PTPN11 | c.960T>C (p.Asn320=) c.846T>C (p.Asn282=) c.957T>C (p.Asn319=) | |
12 | g.112477883T>G | CA386791136 | PTPN11 | c.960T>G (p.Asn320Lys) c.846T>G (p.Asn282Lys) c.957T>G (p.Asn319Lys) | |
12 | g.112477884T>A | CA386791139 | PTPN11 | c.961T>A (p.Ser321Thr) c.847T>A (p.Ser283Thr) c.958T>A (p.Ser320Thr) | dbSNP |
12 | g.112477884T>C | CA386791144 | PTPN11 | c.961T>C (p.Ser321Pro) c.847T>C (p.Ser283Pro) c.958T>C (p.Ser320Pro) | |
12 | g.112477884T>G | CA386791146 | PTPN11 | c.961T>G (p.Ser321Ala) c.847T>G (p.Ser283Ala) c.958T>G (p.Ser320Ala) | gnomAD v4 |
12 | g.112477885C>A | CA386791147 | PTPN11 | c.962C>A (p.Ser321Ter) c.848C>A (p.Ser283Ter) c.959C>A (p.Ser320Ter) | |
12 | g.112477885C>G | CA386791152 | PTPN11 | c.962C>G (p.Ser321Ter) c.848C>G (p.Ser283Ter) c.959C>G (p.Ser320Ter) | |
12 | g.112477885C>T | CA386791149 | PTPN11 | c.962C>T (p.Ser321Leu) c.848C>T (p.Ser283Leu) c.959C>T (p.Ser320Leu) | |
12 | g.112477886A>C | CA481887826 | PTPN11 | c.963A>C (p.Ser321=) c.849A>C (p.Ser283=) c.960A>C (p.Ser320=) | |
12 | g.112477886A>G | CA481887829 | PTPN11 | c.963A>G (p.Ser321=) c.849A>G (p.Ser283=) c.960A>G (p.Ser320=) | |
12 | g.112477886A>T | CA481887827 | PTPN11 | c.963A>T (p.Ser321=) c.849A>T (p.Ser283=) c.960A>T (p.Ser320=) | |
12 | g.112477887A>C | CA386791156 | PTPN11 | c.964A>C (p.Lys322Gln) c.850A>C (p.Lys284Gln) c.961A>C (p.Lys321Gln) | |
12 | g.112477887A>G | CA386791157 | PTPN11 | c.964A>G (p.Lys322Glu) c.850A>G (p.Lys284Glu) c.961A>G (p.Lys321Glu) | |
12 | g.112477887A>T | CA386791160 | PTPN11 | c.964A>T (p.Lys322Ter) c.850A>T (p.Lys284Ter) c.961A>T (p.Lys321Ter) | |
12 | g.112477888A>C | CA386791163 | PTPN11 | c.965A>C (p.Lys322Thr) c.851A>C (p.Lys284Thr) c.962A>C (p.Lys321Thr) | |
12 | g.112477888A>G | CA386791166 | PTPN11 | c.965A>G (p.Lys322Arg) c.851A>G (p.Lys284Arg) c.962A>G (p.Lys321Arg) | ClinVar |
12 | g.112477888A>T | CA386791168 | PTPN11 | c.965A>T (p.Lys322Met) c.851A>T (p.Lys284Met) c.962A>T (p.Lys321Met) | |
12 | g.112477889G>A | CA481887831 | PTPN11 | c.966G>A (p.Lys322=) c.852G>A (p.Lys284=) c.963G>A (p.Lys321=) | COSMIC |
12 | g.112477889G>C | CA386791170 | PTPN11 | c.966G>C (p.Lys322Asn) c.852G>C (p.Lys284Asn) c.963G>C (p.Lys321Asn) | |
12 | g.112477889G>T | CA386791172 | PTPN11 | c.966G>T (p.Lys322Asn) c.852G>T (p.Lys284Asn) c.963G>T (p.Lys321Asn) | |
12 | g.112477890C>A | CA386791176 | PTPN11 | c.967C>A (p.Pro323Thr) c.853C>A (p.Pro285Thr) c.964C>A (p.Pro322Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477890C= | CA2063775947 | PTPN11 | c.967C= (p.Pro323=) c.853C= (p.Pro285=) c.964C= (p.Pro322=) | |
12 | g.112477890C>G | CA386791177 | PTPN11 | c.967C>G (p.Pro323Ala) c.853C>G (p.Pro285Ala) c.964C>G (p.Pro322Ala) | dbSNP |
12 | g.112477890C>T | CA6798694 | PTPN11 | c.967C>T (p.Pro323Ser) c.853C>T (p.Pro285Ser) c.964C>T (p.Pro322Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477891C>A | CA386791184 | PTPN11 | c.968C>A (p.Pro323His) c.854C>A (p.Pro285His) c.965C>A (p.Pro322His) | dbSNP |
12 | g.112477891C>G | CA386791187 | PTPN11 | c.968C>G (p.Pro323Arg) c.854C>G (p.Pro285Arg) c.965C>G (p.Pro322Arg) | |
12 | g.112477891C>T | CA386791185 | PTPN11 | c.968C>T (p.Pro323Leu) c.854C>T (p.Pro285Leu) c.965C>T (p.Pro322Leu) | |
12 | g.112477892C>A | CA6798695 | PTPN11 | c.969C>A (p.Pro323=) c.855C>A (p.Pro285=) c.966C>A (p.Pro322=) | dbSNP ExAC |
12 | g.112477892C= | CA2063775948 | PTPN11 | c.969C= (p.Pro323=) c.855C= (p.Pro285=) c.966C= (p.Pro322=) | |
12 | g.112477892C>G | CA481887838 | PTPN11 | c.969C>G (p.Pro323=) c.855C>G (p.Pro285=) c.966C>G (p.Pro322=) | |
12 | g.112477892C>T | CA481887840 | PTPN11 | c.969C>T (p.Pro323=) c.855C>T (p.Pro285=) c.966C>T (p.Pro322=) | |
12 | g.112477893A= | CA2063775949 | PTPN11 | c.970A= (p.Lys324=) c.856A= (p.Lys286=) c.967A= (p.Lys323=) | |
12 | g.112477893A>C | CA386791192 | PTPN11 | c.970A>C (p.Lys324Gln) c.856A>C (p.Lys286Gln) c.967A>C (p.Lys323Gln) | dbSNP |
12 | g.112477893A>G | CA386791191 | PTPN11 | c.970A>G (p.Lys324Glu) c.856A>G (p.Lys286Glu) c.967A>G (p.Lys323Glu) | |
12 | g.112477893A>T | CA386791193 | PTPN11 | c.970A>T (p.Lys324Ter) c.856A>T (p.Lys286Ter) c.967A>T (p.Lys323Ter) | |
12 | g.112477897del | CA2727226228 | PTPN11 | c.974del (p.Lys325ArgfsTer14) c.860del (p.Lys287ArgfsTer14) c.971del (p.Lys324ArgfsTer14) | dbSNP |
12 | g.112477894A= | CA2063775950 | PTPN11 | c.971A= (p.Lys324=) c.857A= (p.Lys286=) c.968A= (p.Lys323=) | |
12 | g.112477894A>C | CA386791194 | PTPN11 | c.971A>C (p.Lys324Thr) c.857A>C (p.Lys286Thr) c.968A>C (p.Lys323Thr) | |
12 | g.112477894A>G | CA6798696 | PTPN11 | c.971A>G (p.Lys324Arg) c.857A>G (p.Lys286Arg) c.968A>G (p.Lys323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477894A>T | CA386791195 | PTPN11 | c.971A>T (p.Lys324Ile) c.857A>T (p.Lys286Ile) c.968A>T (p.Lys323Ile) |