Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112477638_112477639del | CA2621024546 | PTPN11 | c.854-13_854-12del (n.854-13_854-12del) c.740-13_740-12del (n.740-13_740-12del) c.851-13_851-12del (n.851-13_851-12del) | ClinVar gnomAD v4 |
12 | g.112477636C= | CA2063775631 | PTPN11 | c.854-15C= (n.854-15C=) c.740-15C= (n.740-15C=) c.851-15C= (n.851-15C=) | |
12 | g.112477636C>G | CA2727058939 | PTPN11 | c.854-15C>G (n.854-15C>G) c.740-15C>G (n.740-15C>G) c.851-15C>G (n.851-15C>G) | dbSNP |
12 | g.112477636C>T | CA6798671 | PTPN11 | c.854-15C>T (n.854-15C>T) c.740-15C>T (n.740-15C>T) c.851-15C>T (n.851-15C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477637T>A | CA1139662891 | PTPN11 | c.854-14T>A (n.854-14T>A) c.740-14T>A (n.740-14T>A) c.851-14T>A (n.851-14T>A) | ClinVar dbSNP gnomAD v4 |
12 | g.112477637T= | CA2063775636 | PTPN11 | c.854-14T= (n.854-14T=) c.740-14T= (n.740-14T=) c.851-14T= (n.851-14T=) | |
12 | g.112477638C>A | CA2727222881 | PTPN11 | c.854-13C>A (n.854-13C>A) c.740-13C>A (n.740-13C>A) c.851-13C>A (n.851-13C>A) | dbSNP |
12 | g.112477639T>A | CA2727222963 | PTPN11 | c.854-12T>A (n.854-12T>A) c.740-12T>A (n.740-12T>A) c.851-12T>A (n.851-12T>A) | dbSNP |
12 | g.112477639T>C | CA2727223071 | PTPN11 | c.854-12T>C (n.854-12T>C) c.740-12T>C (n.740-12T>C) c.851-12T>C (n.851-12T>C) | dbSNP |
12 | g.112477639T>G | CA2727223072 | PTPN11 | c.854-12T>G (n.854-12T>G) c.740-12T>G (n.740-12T>G) c.851-12T>G (n.851-12T>G) | dbSNP |
12 | g.112477643del | CA2575298955 | PTPN11 | c.854-8del (n.854-8del) c.740-8del (n.740-8del) c.851-8del (n.851-8del) | gnomAD v4 |
12 | g.112477641T>C | CA683695435 | PTPN11 | c.854-10T>C (n.854-10T>C) c.740-10T>C (n.740-10T>C) c.851-10T>C (n.851-10T>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477641T= | CA2063775639 | PTPN11 | c.854-10T= (n.854-10T=) c.740-10T= (n.740-10T=) c.851-10T= (n.851-10T=) | |
12 | g.112477642T>C | CA2063775642 | PTPN11 | c.854-9T>C (n.854-9T>C) c.740-9T>C (n.740-9T>C) c.851-9T>C (n.851-9T>C) | dbSNP gnomAD v4 |
12 | g.112477642T= | CA2063775641 | PTPN11 | c.854-9T= (n.854-9T=) c.740-9T= (n.740-9T=) c.851-9T= (n.851-9T=) | |
12 | g.112477643T>C | CA6798672 | PTPN11 | c.854-8T>C (n.854-8T>C) c.740-8T>C (n.740-8T>C) c.851-8T>C (n.851-8T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477643T= | CA2063775644 | PTPN11 | c.854-8T= (n.854-8T=) c.740-8T= (n.740-8T=) c.851-8T= (n.851-8T=) | |
12 | g.112477644C>G | CA2727223073 | PTPN11 | c.854-7C>G (n.854-7C>G) c.740-7C>G (n.740-7C>G) c.851-7C>G (n.851-7C>G) | dbSNP |
12 | g.112477644C>T | CA2621024553 | PTPN11 | c.854-7C>T (n.854-7C>T) c.740-7C>T (n.740-7C>T) c.851-7C>T (n.851-7C>T) | dbSNP gnomAD v4 |
12 | g.112477645T>A | CA2621024554 | PTPN11 | c.854-6T>A (n.854-6T>A) c.740-6T>A (n.740-6T>A) c.851-6T>A (n.851-6T>A) | gnomAD v4 |
12 | g.112477645T>C | CA2063775647 | PTPN11 | c.854-6T>C (n.854-6T>C) c.740-6T>C (n.740-6T>C) c.851-6T>C (n.851-6T>C) | dbSNP |
12 | g.112477645T= | CA2063775646 | PTPN11 | c.854-6T= (n.854-6T=) c.740-6T= (n.740-6T=) c.851-6T= (n.851-6T=) | |
12 | g.112477647C>A | CA2727223075 | PTPN11 | c.854-4C>A (n.854-4C>A) c.740-4C>A (n.740-4C>A) c.851-4C>A (n.851-4C>A) | dbSNP |
12 | g.112477647C>G | CA2727223112 | PTPN11 | c.854-4C>G (n.854-4C>G) c.740-4C>G (n.740-4C>G) c.851-4C>G (n.851-4C>G) | dbSNP |
12 | g.112477647C>T | CA2621024555 | PTPN11 | c.854-4C>T (n.854-4C>T) c.740-4C>T (n.740-4C>T) c.851-4C>T (n.851-4C>T) | dbSNP gnomAD v4 |
12 | g.112477649A>C | CA386790389 | PTPN11 | c.854-2A>C (n.854-2A>C) c.740-2A>C (n.740-2A>C) c.851-2A>C (n.851-2A>C) | |
12 | g.112477649A>G | CA386790391 | PTPN11 | c.854-2A>G (n.854-2A>G) c.740-2A>G (n.740-2A>G) c.851-2A>G (n.851-2A>G) | |
12 | g.112477649A>T | CA386790392 | PTPN11 | c.854-2A>T (n.854-2A>T) c.740-2A>T (n.740-2A>T) c.851-2A>T (n.851-2A>T) | dbSNP gnomAD v4 |
12 | g.112477650G>A | CA386790401 | PTPN11 | c.854-1G>A (n.854-1G>A) c.740-1G>A (n.740-1G>A) c.851-1G>A (n.851-1G>A) | |
12 | g.112477650G>C | CA386790396 | PTPN11 | c.854-1G>C (n.854-1G>C) c.740-1G>C (n.740-1G>C) c.851-1G>C (n.851-1G>C) | ClinVar dbSNP |
12 | g.112477650G= | CA2063775650 | PTPN11 | c.854-1G= (n.854-1G=) c.740-1G= (n.740-1G=) c.851-1G= (n.851-1G=) | |
12 | g.112477650G>T | CA386790398 | PTPN11 | c.854-1G>T (n.854-1G>T) c.740-1G>T (n.740-1G>T) c.851-1G>T (n.851-1G>T) | gnomAD v4 |
12 | g.112477651T>A | CA297085 | PTPN11 | c.854T>A (p.Phe285Tyr) c.740T>A (p.Phe247Tyr) c.851T>A (p.Phe284Tyr) | ClinVar dbSNP |
12 | g.112477651T>C | CA204408 | PTPN11 | c.854T>C (p.Phe285Ser) c.740T>C (p.Phe247Ser) c.851T>C (p.Phe284Ser) | ClinVar dbSNP COSMIC |
12 | g.112477651T>G | CA261603 | PTPN11 | c.854T>G (p.Phe285Cys) c.740T>G (p.Phe247Cys) c.851T>G (p.Phe284Cys) | ClinVar dbSNP |
12 | g.112477651T= | CA2063775659 | PTPN11 | c.854T= (p.Phe285=) c.740T= (p.Phe247=) c.851T= (p.Phe284=) | |
12 | g.112477652T>A | CA386790412 | PTPN11 | c.855T>A (p.Phe285Leu) c.741T>A (p.Phe247Leu) c.852T>A (p.Phe284Leu) | ClinVar dbSNP gnomAD v4 |
12 | g.112477652T>C | CA481887633 | PTPN11 | c.855T>C (p.Phe285=) c.741T>C (p.Phe247=) c.852T>C (p.Phe284=) | |
12 | g.112477652T>G | CA261606 | PTPN11 | c.855T>G (p.Phe285Leu) c.741T>G (p.Phe247Leu) c.852T>G (p.Phe284Leu) | ClinVar dbSNP |
12 | g.112477652T= | CA2063775668 | PTPN11 | c.855T= (p.Phe285=) c.741T= (p.Phe247=) c.852T= (p.Phe284=) | |
12 | g.112477653G>A | CA386790419 | PTPN11 | c.856G>A (p.Asp286Asn) c.742G>A (p.Asp248Asn) c.853G>A (p.Asp285Asn) | |
12 | g.112477653G>C | CA386790414 | PTPN11 | c.856G>C (p.Asp286His) c.742G>C (p.Asp248His) c.853G>C (p.Asp285His) | dbSNP |
12 | g.112477653G>T | CA386790416 | PTPN11 | c.856G>T (p.Asp286Tyr) c.742G>T (p.Asp248Tyr) c.853G>T (p.Asp285Tyr) | gnomAD v4 |
12 | g.112477654A>C | CA386790422 | PTPN11 | c.857A>C (p.Asp286Ala) c.743A>C (p.Asp248Ala) c.854A>C (p.Asp285Ala) | |
12 | g.112477654A>G | CA386790424 | PTPN11 | c.857A>G (p.Asp286Gly) c.743A>G (p.Asp248Gly) c.854A>G (p.Asp285Gly) | |
12 | g.112477654A>T | CA386790429 | PTPN11 | c.857A>T (p.Asp286Val) c.743A>T (p.Asp248Val) c.854A>T (p.Asp285Val) | dbSNP gnomAD v4 COSMIC |
12 | g.112477655T>A | CA134683 | PTPN11 | c.858T>A (p.Asp286Glu) c.744T>A (p.Asp248Glu) c.855T>A (p.Asp285Glu) | ClinVar dbSNP |
12 | g.112477655T>C | CA481887634 | PTPN11 | c.858T>C (p.Asp286=) c.744T>C (p.Asp248=) c.855T>C (p.Asp285=) | |
12 | g.112477655T>G | CA386790433 | PTPN11 | c.858T>G (p.Asp286Glu) c.744T>G (p.Asp248Glu) c.855T>G (p.Asp285Glu) | |
12 | g.112477655T= | CA2063775675 | PTPN11 | c.858T= (p.Asp286=) c.744T= (p.Asp248=) c.855T= (p.Asp285=) | |
12 | g.112477656C>A | CA386790436 | PTPN11 | c.859C>A (p.His287Asn) c.745C>A (p.His249Asn) c.856C>A (p.His286Asn) | gnomAD v4 |
12 | g.112477656C>G | CA386790438 | PTPN11 | c.859C>G (p.His287Asp) c.745C>G (p.His249Asp) c.856C>G (p.His286Asp) | dbSNP |
12 | g.112477656C>T | CA386790440 | PTPN11 | c.859C>T (p.His287Tyr) c.745C>T (p.His249Tyr) c.856C>T (p.His286Tyr) | dbSNP |
12 | g.112477657A= | CA2063775679 | PTPN11 | c.860A= (p.His287=) c.746A= (p.His249=) c.857A= (p.His286=) | |
12 | g.112477657A>C | CA386790444 | PTPN11 | c.860A>C (p.His287Pro) c.746A>C (p.His249Pro) c.857A>C (p.His286Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477657A>G | CA386790446 | PTPN11 | c.860A>G (p.His287Arg) c.746A>G (p.His249Arg) c.857A>G (p.His286Arg) | |
12 | g.112477657A>T | CA386790449 | PTPN11 | c.860A>T (p.His287Leu) c.746A>T (p.His249Leu) c.857A>T (p.His286Leu) | dbSNP |
12 | g.112477658T>A | CA386790453 | PTPN11 | c.861T>A (p.His287Gln) c.747T>A (p.His249Gln) c.858T>A (p.His286Gln) | |
12 | g.112477658T>C | CA243711913 | PTPN11 | c.861T>C (p.His287=) c.747T>C (p.His249=) c.858T>C (p.His286=) | ClinVar dbSNP |
12 | g.112477658T>G | CA386790455 | PTPN11 | c.861T>G (p.His287Gln) c.747T>G (p.His249Gln) c.858T>G (p.His286Gln) | |
12 | g.112477658T= | CA2063775684 | PTPN11 | c.861T= (p.His287=) c.747T= (p.His249=) c.858T= (p.His286=) | |
12 | g.112477659A>C | CA386790459 | PTPN11 | c.862A>C (p.Thr288Pro) c.748A>C (p.Thr250Pro) c.859A>C (p.Thr287Pro) | |
12 | g.112477659A>G | CA386790465 | PTPN11 | c.862A>G (p.Thr288Ala) c.748A>G (p.Thr250Ala) c.859A>G (p.Thr287Ala) | ClinVar dbSNP gnomAD v4 |
12 | g.112477659A>T | CA386790462 | PTPN11 | c.862A>T (p.Thr288Ser) c.748A>T (p.Thr250Ser) c.859A>T (p.Thr287Ser) | dbSNP |
12 | g.112477660C>A | CA386790467 | PTPN11 | c.863C>A (p.Thr288Asn) c.749C>A (p.Thr250Asn) c.860C>A (p.Thr287Asn) | dbSNP |
12 | g.112477660C>G | CA386790470 | PTPN11 | c.863C>G (p.Thr288Ser) c.749C>G (p.Thr250Ser) c.860C>G (p.Thr287Ser) | dbSNP |
12 | g.112477660C>T | CA386790473 | PTPN11 | c.863C>T (p.Thr288Ile) c.749C>T (p.Thr250Ile) c.860C>T (p.Thr287Ile) | dbSNP COSMIC |
12 | g.112477661C>A | CA481887635 | PTPN11 | c.864C>A (p.Thr288=) c.750C>A (p.Thr250=) c.861C>A (p.Thr287=) | dbSNP gnomAD v4 |
12 | g.112477661C>G | CA481887636 | PTPN11 | c.864C>G (p.Thr288=) c.750C>G (p.Thr250=) c.861C>G (p.Thr287=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477661C>T | CA481887637 | PTPN11 | c.864C>T (p.Thr288=) c.750C>T (p.Thr250=) c.861C>T (p.Thr287=) | dbSNP |
12 | g.112477662A>C | CA481887638 | PTPN11 | c.865A>C (p.Arg289=) c.751A>C (p.Arg251=) c.862A>C (p.Arg288=) | |
12 | g.112477662A>G | CA386790475 | PTPN11 | c.865A>G (p.Arg289Gly) c.751A>G (p.Arg251Gly) c.862A>G (p.Arg288Gly) | ClinVar dbSNP |
12 | g.112477662A>T | CA386790477 | PTPN11 | c.865A>T (p.Arg289Trp) c.751A>T (p.Arg251Trp) c.862A>T (p.Arg288Trp) | |
12 | g.112477663G>A | CA386790480 | PTPN11 | c.866G>A (p.Arg289Lys) c.752G>A (p.Arg251Lys) c.863G>A (p.Arg288Lys) | |
12 | g.112477663G>C | CA386790481 | PTPN11 | c.866G>C (p.Arg289Thr) c.752G>C (p.Arg251Thr) c.863G>C (p.Arg288Thr) | |
12 | g.112477663G>T | CA386790483 | PTPN11 | c.866G>T (p.Arg289Met) c.752G>T (p.Arg251Met) c.863G>T (p.Arg288Met) | |
12 | g.112477664G>A | CA481887639 | PTPN11 | c.867G>A (p.Arg289=) c.753G>A (p.Arg251=) c.864G>A (p.Arg288=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477664G>C | CA386790485 | PTPN11 | c.867G>C (p.Arg289Ser) c.753G>C (p.Arg251Ser) c.864G>C (p.Arg288Ser) | ClinVar dbSNP gnomAD v4 |
12 | g.112477664G= | CA2063775689 | PTPN11 | c.867G= (p.Arg289=) c.753G= (p.Arg251=) c.864G= (p.Arg288=) | |
12 | g.112477664G>T | CA386790488 | PTPN11 | c.867G>T (p.Arg289Ser) c.753G>T (p.Arg251Ser) c.864G>T (p.Arg288Ser) | dbSNP gnomAD v4 |
12 | g.112477665G>A | CA386790490 | PTPN11 | c.868G>A (p.Val290Ile) c.754G>A (p.Val252Ile) c.865G>A (p.Val289Ile) | ClinVar dbSNP |
12 | g.112477665G>C | CA386790492 | PTPN11 | c.868G>C (p.Val290Leu) c.754G>C (p.Val252Leu) c.865G>C (p.Val289Leu) | ClinVar dbSNP |
12 | g.112477665G= | CA2063775693 | PTPN11 | c.868G= (p.Val290=) c.754G= (p.Val252=) c.865G= (p.Val289=) | |
12 | g.112477665G>T | CA386790495 | PTPN11 | c.868G>T (p.Val290Phe) c.754G>T (p.Val252Phe) c.865G>T (p.Val289Phe) | dbSNP |
12 | g.112477666T>A | CA386790505 | PTPN11 | c.869T>A (p.Val290Asp) c.755T>A (p.Val252Asp) c.866T>A (p.Val289Asp) | dbSNP |
12 | g.112477666T>C | CA386790498 | PTPN11 | c.869T>C (p.Val290Ala) c.755T>C (p.Val252Ala) c.866T>C (p.Val289Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477666T>G | CA386790502 | PTPN11 | c.869T>G (p.Val290Gly) c.755T>G (p.Val252Gly) c.866T>G (p.Val289Gly) | |
12 | g.112477666T= | CA2063775697 | PTPN11 | c.869T= (p.Val290=) c.755T= (p.Val252=) c.866T= (p.Val289=) | |
12 | g.112477667T>A | CA481887641 | PTPN11 | c.870T>A (p.Val290=) c.756T>A (p.Val252=) c.867T>A (p.Val289=) | |
12 | g.112477667T>C | CA481887642 | PTPN11 | c.870T>C (p.Val290=) c.756T>C (p.Val252=) c.867T>C (p.Val289=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477667T>G | CA481887643 | PTPN11 | c.870T>G (p.Val290=) c.756T>G (p.Val252=) c.867T>G (p.Val289=) | |
12 | g.112477667T= | CA2063775701 | PTPN11 | c.870T= (p.Val290=) c.756T= (p.Val252=) c.867T= (p.Val289=) | |
12 | g.112477668G>A | CA386790508 | PTPN11 | c.871G>A (p.Val291Ile) c.757G>A (p.Val253Ile) c.868G>A (p.Val290Ile) | dbSNP |
12 | g.112477668G>C | CA386790511 | PTPN11 | c.871G>C (p.Val291Leu) c.757G>C (p.Val253Leu) c.868G>C (p.Val290Leu) | dbSNP |
12 | g.112477668G>T | CA386790512 | PTPN11 | c.871G>T (p.Val291Phe) c.757G>T (p.Val253Phe) c.868G>T (p.Val290Phe) | |
12 | g.112477669T>A | CA386790517 | PTPN11 | c.872T>A (p.Val291Asp) c.758T>A (p.Val253Asp) c.869T>A (p.Val290Asp) | dbSNP |
12 | g.112477669T>C | CA386790520 | PTPN11 | c.872T>C (p.Val291Ala) c.758T>C (p.Val253Ala) c.869T>C (p.Val290Ala) | |
12 | g.112477669T>G | CA386790522 | PTPN11 | c.872T>G (p.Val291Gly) c.758T>G (p.Val253Gly) c.869T>G (p.Val290Gly) | |
12 | g.112477670C>A | CA481887644 | PTPN11 | c.873C>A (p.Val291=) c.759C>A (p.Val253=) c.870C>A (p.Val290=) | |
12 | g.112477670C>G | CA481887645 | PTPN11 | c.873C>G (p.Val291=) c.759C>G (p.Val253=) c.870C>G (p.Val290=) | dbSNP |
12 | g.112477670C>T | CA481887646 | PTPN11 | c.873C>T (p.Val291=) c.759C>T (p.Val253=) c.870C>T (p.Val290=) | dbSNP |
12 | g.112477671C>A | CA386790525 | PTPN11 | c.874C>A (p.Leu292Ile) c.760C>A (p.Leu254Ile) c.871C>A (p.Leu291Ile) | dbSNP |
12 | g.112477671C= | CA2063775707 | PTPN11 | c.874C= (p.Leu292=) c.760C= (p.Leu254=) c.871C= (p.Leu291=) | |
12 | g.112477671C>G | CA386790528 | PTPN11 | c.874C>G (p.Leu292Val) c.760C>G (p.Leu254Val) c.871C>G (p.Leu291Val) | |
12 | g.112477671C>T | CA243711914 | PTPN11 | c.874C>T (p.Leu292=) c.760C>T (p.Leu254=) c.871C>T (p.Leu291=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.112477672T>A | CA386790531 | PTPN11 | c.875T>A (p.Leu292Gln) c.761T>A (p.Leu254Gln) c.872T>A (p.Leu291Gln) | |
12 | g.112477672T>C | CA386790533 | PTPN11 | c.875T>C (p.Leu292Pro) c.761T>C (p.Leu254Pro) c.872T>C (p.Leu291Pro) | gnomAD v4 |
12 | g.112477672T>G | CA386790534 | PTPN11 | c.875T>G (p.Leu292Arg) c.761T>G (p.Leu254Arg) c.872T>G (p.Leu291Arg) | |
12 | g.112477673A>C | CA481887647 | PTPN11 | c.876A>C (p.Leu292=) c.762A>C (p.Leu254=) c.873A>C (p.Leu291=) | dbSNP |
12 | g.112477673A>G | CA481887648 | PTPN11 | c.876A>G (p.Leu292=) c.762A>G (p.Leu254=) c.873A>G (p.Leu291=) | gnomAD v4 |
12 | g.112477673A>T | CA481887649 | PTPN11 | c.876A>T (p.Leu292=) c.762A>T (p.Leu254=) c.873A>T (p.Leu291=) | dbSNP |
12 | g.112477674C>A | CA386790543 | PTPN11 | c.877C>A (p.His293Asn) c.763C>A (p.His255Asn) c.874C>A (p.His292Asn) | dbSNP |
12 | g.112477674C= | CA2063775714 | PTPN11 | c.877C= (p.His293=) c.763C= (p.His255=) c.874C= (p.His292=) | |
12 | g.112477674C>G | CA386790539 | PTPN11 | c.877C>G (p.His293Asp) c.763C>G (p.His255Asp) c.874C>G (p.His292Asp) | dbSNP |
12 | g.112477674C>T | CA386790541 | PTPN11 | c.877C>T (p.His293Tyr) c.763C>T (p.His255Tyr) c.874C>T (p.His292Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477675A>C | CA386790547 | PTPN11 | c.878A>C (p.His293Pro) c.764A>C (p.His255Pro) c.875A>C (p.His292Pro) | |
12 | g.112477675A>G | CA386790550 | PTPN11 | c.878A>G (p.His293Arg) c.764A>G (p.His255Arg) c.875A>G (p.His292Arg) | |
12 | g.112477675A>T | CA386790549 | PTPN11 | c.878A>T (p.His293Leu) c.764A>T (p.His255Leu) c.875A>T (p.His292Leu) | dbSNP |
12 | g.112477676C>A | CA386790553 | PTPN11 | c.879C>A (p.His293Gln) c.765C>A (p.His255Gln) c.876C>A (p.His292Gln) | ClinVar dbSNP gnomAD v4 |
12 | g.112477676C= | CA2063775718 | PTPN11 | c.879C= (p.His293=) c.765C= (p.His255=) c.876C= (p.His292=) | |
12 | g.112477676C>G | CA6798673 | PTPN11 | c.879C>G (p.His293Gln) c.765C>G (p.His255Gln) c.876C>G (p.His292Gln) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.112477676C>T | CA282101 | PTPN11 | c.879C>T (p.His293=) c.765C>T (p.His255=) c.876C>T (p.His292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477677G>A | CA243711916 | PTPN11 | c.880G>A (p.Asp294Asn) c.766G>A (p.Asp256Asn) c.877G>A (p.Asp293Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477677G>C | CA386790562 | PTPN11 | c.880G>C (p.Asp294His) c.766G>C (p.Asp256His) c.877G>C (p.Asp293His) | dbSNP |
12 | g.112477677G= | CA2063775726 | PTPN11 | c.880G= (p.Asp294=) c.766G= (p.Asp256=) c.877G= (p.Asp293=) | |
12 | g.112477677G>T | CA243711919 | PTPN11 | c.880G>T (p.Asp294Tyr) c.766G>T (p.Asp256Tyr) c.877G>T (p.Asp293Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477678A= | CA2063775731 | PTPN11 | c.881A= (p.Asp294=) c.767A= (p.Asp256=) c.878A= (p.Asp293=) | |
12 | g.112477678A>C | CA386790568 | PTPN11 | c.881A>C (p.Asp294Ala) c.767A>C (p.Asp256Ala) c.878A>C (p.Asp293Ala) | |
12 | g.112477678A>G | CA6798674 | PTPN11 | c.881A>G (p.Asp294Gly) c.767A>G (p.Asp256Gly) c.878A>G (p.Asp293Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477678A>T | CA386790571 | PTPN11 | c.881A>T (p.Asp294Val) c.767A>T (p.Asp256Val) c.878A>T (p.Asp293Val) | dbSNP |
12 | g.112477679T>A | CA386790577 | PTPN11 | c.882T>A (p.Asp294Glu) c.768T>A (p.Asp256Glu) c.879T>A (p.Asp293Glu) | |
12 | g.112477679T>C | CA481887652 | PTPN11 | c.882T>C (p.Asp294=) c.768T>C (p.Asp256=) c.879T>C (p.Asp293=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477679T>G | CA386790574 | PTPN11 | c.882T>G (p.Asp294Glu) c.768T>G (p.Asp256Glu) c.879T>G (p.Asp293Glu) | gnomAD v4 |
12 | g.112477679T= | CA2063775734 | PTPN11 | c.882T= (p.Asp294=) c.768T= (p.Asp256=) c.879T= (p.Asp293=) | |
12 | g.112477680G>A | CA386790578 | PTPN11 | c.883G>A (p.Gly295Ser) c.769G>A (p.Gly257Ser) c.880G>A (p.Gly294Ser) | dbSNP |
12 | g.112477680G>C | CA386790579 | PTPN11 | c.883G>C (p.Gly295Arg) c.769G>C (p.Gly257Arg) c.880G>C (p.Gly294Arg) | dbSNP |
12 | g.112477680G>T | CA386790580 | PTPN11 | c.883G>T (p.Gly295Cys) c.769G>T (p.Gly257Cys) c.880G>T (p.Gly294Cys) | |
12 | g.112477681G>A | CA386790582 | PTPN11 | c.884G>A (p.Gly295Asp) c.770G>A (p.Gly257Asp) c.881G>A (p.Gly294Asp) | dbSNP |
12 | g.112477681G>C | CA386790583 | PTPN11 | c.884G>C (p.Gly295Ala) c.770G>C (p.Gly257Ala) c.881G>C (p.Gly294Ala) | dbSNP |
12 | g.112477681G>T | CA386790585 | PTPN11 | c.884G>T (p.Gly295Val) c.770G>T (p.Gly257Val) c.881G>T (p.Gly294Val) | dbSNP |
12 | g.112477682T>A | CA481887656 | PTPN11 | c.885T>A (p.Gly295=) c.771T>A (p.Gly257=) c.882T>A (p.Gly294=) | dbSNP |
12 | g.112477682T>C | CA481887657 | PTPN11 | c.885T>C (p.Gly295=) c.771T>C (p.Gly257=) c.882T>C (p.Gly294=) | |
12 | g.112477682T>G | CA481887658 | PTPN11 | c.885T>G (p.Gly295=) c.771T>G (p.Gly257=) c.882T>G (p.Gly294=) | |
12 | g.112477683G>A | CA386790588 | PTPN11 | c.886G>A (p.Asp296Asn) c.772G>A (p.Asp258Asn) c.883G>A (p.Asp295Asn) | dbSNP |
12 | g.112477683G>C | CA386790591 | PTPN11 | c.886G>C (p.Asp296His) c.772G>C (p.Asp258His) c.883G>C (p.Asp295His) | dbSNP |
12 | g.112477683G>T | CA386790590 | PTPN11 | c.886G>T (p.Asp296Tyr) c.772G>T (p.Asp258Tyr) c.883G>T (p.Asp295Tyr) | |
12 | g.112477684A>C | CA386790594 | PTPN11 | c.887A>C (p.Asp296Ala) c.773A>C (p.Asp258Ala) c.884A>C (p.Asp295Ala) | |
12 | g.112477684A>G | CA386790597 | PTPN11 | c.887A>G (p.Asp296Gly) c.773A>G (p.Asp258Gly) c.884A>G (p.Asp295Gly) | dbSNP |
12 | g.112477684A>T | CA386790599 | PTPN11 | c.887A>T (p.Asp296Val) c.773A>T (p.Asp258Val) c.884A>T (p.Asp295Val) | dbSNP |
12 | g.112477685T>A | CA386790604 | PTPN11 | c.888T>A (p.Asp296Glu) c.774T>A (p.Asp258Glu) c.885T>A (p.Asp295Glu) | |
12 | g.112477685T>C | CA481887659 | PTPN11 | c.888T>C (p.Asp296=) c.774T>C (p.Asp258=) c.885T>C (p.Asp295=) | COSMIC |
12 | g.112477685T>G | CA386790606 | PTPN11 | c.888T>G (p.Asp296Glu) c.774T>G (p.Asp258Glu) c.885T>G (p.Asp295Glu) | |
12 | g.112477686C>A | CA386790609 | PTPN11 | c.889C>A (p.Pro297Thr) c.775C>A (p.Pro259Thr) c.886C>A (p.Pro296Thr) | dbSNP |
12 | g.112477686C= | CA2063775736 | PTPN11 | c.889C= (p.Pro297=) c.775C= (p.Pro259=) c.886C= (p.Pro296=) | |
12 | g.112477686C>G | CA386790612 | PTPN11 | c.889C>G (p.Pro297Ala) c.775C>G (p.Pro259Ala) c.886C>G (p.Pro296Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112477686C>T | CA386790615 | PTPN11 | c.889C>T (p.Pro297Ser) c.775C>T (p.Pro259Ser) c.886C>T (p.Pro296Ser) | dbSNP |
12 | g.112477687C>A | CA386790619 | PTPN11 | c.890C>A (p.Pro297His) c.776C>A (p.Pro259His) c.887C>A (p.Pro296His) | dbSNP |
12 | g.112477687C>G | CA386790621 | PTPN11 | c.890C>G (p.Pro297Arg) c.776C>G (p.Pro259Arg) c.887C>G (p.Pro296Arg) | dbSNP |
12 | g.112477687C>T | CA386790624 | PTPN11 | c.890C>T (p.Pro297Leu) c.776C>T (p.Pro259Leu) c.887C>T (p.Pro296Leu) | dbSNP |
12 | g.112477688C>A | CA481887660 | PTPN11 | c.891C>A (p.Pro297=) c.777C>A (p.Pro259=) c.888C>A (p.Pro296=) | dbSNP |
12 | g.112477688C>G | CA481887662 | PTPN11 | c.891C>G (p.Pro297=) c.777C>G (p.Pro259=) c.888C>G (p.Pro296=) | dbSNP |
12 | g.112477688C>T | CA481887664 | PTPN11 | c.891C>T (p.Pro297=) c.777C>T (p.Pro259=) c.888C>T (p.Pro296=) | dbSNP |
12 | g.112477689A= | CA2063775738 | PTPN11 | c.892A= (p.Asn298=) c.778A= (p.Asn260=) c.889A= (p.Asn297=) | |
12 | g.112477689A>C | CA386790627 | PTPN11 | c.892A>C (p.Asn298His) c.778A>C (p.Asn260His) c.889A>C (p.Asn297His) | |
12 | g.112477689A>G | CA243711925 | PTPN11 | c.892A>G (p.Asn298Asp) c.778A>G (p.Asn260Asp) c.889A>G (p.Asn297Asp) | dbSNP gnomAD v4 |
12 | g.112477689A>T | CA386790631 | PTPN11 | c.892A>T (p.Asn298Tyr) c.778A>T (p.Asn260Tyr) c.889A>T (p.Asn297Tyr) | |
12 | g.112477690A= | CA2063775743 | PTPN11 | c.893A= (p.Asn298=) c.779A= (p.Asn260=) c.890A= (p.Asn297=) | |
12 | g.112477690A>C | CA386790637 | PTPN11 | c.893A>C (p.Asn298Thr) c.779A>C (p.Asn260Thr) c.890A>C (p.Asn297Thr) | dbSNP |
12 | g.112477690A>G | CA297088 | PTPN11 | c.893A>G (p.Asn298Ser) c.779A>G (p.Asn260Ser) c.890A>G (p.Asn297Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112477690A>T | CA386790639 | PTPN11 | c.893A>T (p.Asn298Ile) c.779A>T (p.Asn260Ile) c.890A>T (p.Asn297Ile) | |
12 | g.112477691T>A | CA386790642 | PTPN11 | c.894T>A (p.Asn298Lys) c.780T>A (p.Asn260Lys) c.891T>A (p.Asn297Lys) | dbSNP |
12 | g.112477691T>C | CA481887671 | PTPN11 | c.894T>C (p.Asn298=) c.780T>C (p.Asn260=) c.891T>C (p.Asn297=) | dbSNP COSMIC |
12 | g.112477691T>G | CA386790645 | PTPN11 | c.894T>G (p.Asn298Lys) c.780T>G (p.Asn260Lys) c.891T>G (p.Asn297Lys) | |
12 | g.112477691T= | CA2063775749 | PTPN11 | c.894T= (p.Asn298=) c.780T= (p.Asn260=) c.891T= (p.Asn297=) | |
12 | g.112477692G>A | CA386790649 | PTPN11 | c.895G>A (p.Glu299Lys) c.781G>A (p.Glu261Lys) c.892G>A (p.Glu298Lys) | dbSNP |
12 | g.112477692G>C | CA386790650 | PTPN11 | c.895G>C (p.Glu299Gln) c.781G>C (p.Glu261Gln) c.892G>C (p.Glu298Gln) | dbSNP |
12 | g.112477692G>T | CA386790652 | PTPN11 | c.895G>T (p.Glu299Ter) c.781G>T (p.Glu261Ter) c.892G>T (p.Glu298Ter) | |
12 | g.112477693A>C | CA386790656 | PTPN11 | c.896A>C (p.Glu299Ala) c.782A>C (p.Glu261Ala) c.893A>C (p.Glu298Ala) | |
12 | g.112477693A>G | CA386790659 | PTPN11 | c.896A>G (p.Glu299Gly) c.782A>G (p.Glu261Gly) c.893A>G (p.Glu298Gly) | |
12 | g.112477693A>T | CA386790661 | PTPN11 | c.896A>T (p.Glu299Val) c.782A>T (p.Glu261Val) c.893A>T (p.Glu298Val) | dbSNP |
12 | g.112477694G>A | CA6798675 | PTPN11 | c.897G>A (p.Glu299=) c.783G>A (p.Glu261=) c.894G>A (p.Glu298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477694G>C | CA386790667 | PTPN11 | c.897G>C (p.Glu299Asp) c.783G>C (p.Glu261Asp) c.894G>C (p.Glu298Asp) | dbSNP |
12 | g.112477694G= | CA2063775751 | PTPN11 | c.897G= (p.Glu299=) c.783G= (p.Glu261=) c.894G= (p.Glu298=) | |
12 | g.112477694G>T | CA386790666 | PTPN11 | c.897G>T (p.Glu299Asp) c.783G>T (p.Glu261Asp) c.894G>T (p.Glu298Asp) | dbSNP |
12 | g.112477695C>A | CA243711930 | PTPN11 | c.898C>A (p.Pro300Thr) c.784C>A (p.Pro262Thr) c.895C>A (p.Pro299Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477695C= | CA2063775754 | PTPN11 | c.898C= (p.Pro300=) c.784C= (p.Pro262=) c.895C= (p.Pro299=) | |
12 | g.112477695C>G | CA386790673 | PTPN11 | c.898C>G (p.Pro300Ala) c.784C>G (p.Pro262Ala) c.895C>G (p.Pro299Ala) | dbSNP |
12 | g.112477695C>T | CA386790676 | PTPN11 | c.898C>T (p.Pro300Ser) c.784C>T (p.Pro262Ser) c.895C>T (p.Pro299Ser) | dbSNP gnomAD v4 |
12 | g.112477696C>A | CA386790679 | PTPN11 | c.899C>A (p.Pro300His) c.785C>A (p.Pro262His) c.896C>A (p.Pro299His) | dbSNP |
12 | g.112477696C>G | CA386790682 | PTPN11 | c.899C>G (p.Pro300Arg) c.785C>G (p.Pro262Arg) c.896C>G (p.Pro299Arg) | dbSNP |
12 | g.112477696C>T | CA386790683 | PTPN11 | c.899C>T (p.Pro300Leu) c.785C>T (p.Pro262Leu) c.896C>T (p.Pro299Leu) | dbSNP |
12 | g.112477697T>A | CA243711932 | PTPN11 | c.900T>A (p.Pro300=) c.786T>A (p.Pro262=) c.897T>A (p.Pro299=) | dbSNP |
12 | g.112477697T>C | CA481887679 | PTPN11 | c.900T>C (p.Pro300=) c.786T>C (p.Pro262=) c.897T>C (p.Pro299=) | dbSNP |
12 | g.112477697T>G | CA481887678 | PTPN11 | c.900T>G (p.Pro300=) c.786T>G (p.Pro262=) c.897T>G (p.Pro299=) | |
12 | g.112477697T= | CA2063775755 | PTPN11 | c.900T= (p.Pro300=) c.786T= (p.Pro262=) c.897T= (p.Pro299=) | |
12 | g.112477698G>A | CA386790686 | PTPN11 | c.901G>A (p.Val301Ile) c.787G>A (p.Val263Ile) c.898G>A (p.Val300Ile) | dbSNP |
12 | g.112477698G>C | CA386790688 | PTPN11 | c.901G>C (p.Val301Leu) c.787G>C (p.Val263Leu) c.898G>C (p.Val300Leu) | dbSNP |
12 | g.112477698G>T | CA386790691 | PTPN11 | c.901G>T (p.Val301Phe) c.787G>T (p.Val263Phe) c.898G>T (p.Val300Phe) | |
12 | g.112477699T>A | CA386790693 | PTPN11 | c.902T>A (p.Val301Asp) c.788T>A (p.Val263Asp) c.899T>A (p.Val300Asp) | dbSNP |
12 | g.112477699T>C | CA386790696 | PTPN11 | c.902T>C (p.Val301Ala) c.788T>C (p.Val263Ala) c.899T>C (p.Val300Ala) | dbSNP |
12 | g.112477699T>G | CA386790698 | PTPN11 | c.902T>G (p.Val301Gly) c.788T>G (p.Val263Gly) c.899T>G (p.Val300Gly) | |
12 | g.112477700T>A | CA481887684 | PTPN11 | c.903T>A (p.Val301=) c.789T>A (p.Val263=) c.900T>A (p.Val300=) | |
12 | g.112477700T>C | CA481887686 | PTPN11 | c.903T>C (p.Val301=) c.789T>C (p.Val263=) c.900T>C (p.Val300=) | |
12 | g.112477700T>G | CA481887688 | PTPN11 | c.903T>G (p.Val301=) c.789T>G (p.Val263=) c.900T>G (p.Val300=) | gnomAD v4 |
12 | g.112477701T>A | CA386790704 | PTPN11 | c.904T>A (p.Ser302Thr) c.790T>A (p.Ser264Thr) c.901T>A (p.Ser301Thr) | dbSNP |
12 | g.112477701T>C | CA386790708 | PTPN11 | c.904T>C (p.Ser302Pro) c.790T>C (p.Ser264Pro) c.901T>C (p.Ser301Pro) | gnomAD v4 |
12 | g.112477701T>G | CA386790702 | PTPN11 | c.904T>G (p.Ser302Ala) c.790T>G (p.Ser264Ala) c.901T>G (p.Ser301Ala) | |
12 | g.112477702C>A | CA386790716 | PTPN11 | c.905C>A (p.Ser302Ter) c.791C>A (p.Ser264Ter) c.902C>A (p.Ser301Ter) | dbSNP |
12 | g.112477702C>G | CA386790711 | PTPN11 | c.905C>G (p.Ser302Ter) c.791C>G (p.Ser264Ter) c.902C>G (p.Ser301Ter) | dbSNP |
12 | g.112477702C>T | CA386790713 | PTPN11 | c.905C>T (p.Ser302Leu) c.791C>T (p.Ser264Leu) c.902C>T (p.Ser301Leu) | dbSNP |
12 | g.112477703A>C | CA481887690 | PTPN11 | c.906A>C (p.Ser302=) c.792A>C (p.Ser264=) c.903A>C (p.Ser301=) | |
12 | g.112477703A>G | CA481887692 | PTPN11 | c.906A>G (p.Ser302=) c.792A>G (p.Ser264=) c.903A>G (p.Ser301=) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112477703A>T | CA481887694 | PTPN11 | c.906A>T (p.Ser302=) c.792A>T (p.Ser264=) c.903A>T (p.Ser301=) | |
12 | g.112477704G>A | CA386790720 | PTPN11 | c.907G>A (p.Asp303Asn) c.793G>A (p.Asp265Asn) c.904G>A (p.Asp302Asn) | dbSNP |
12 | g.112477704G>C | CA386790721 | PTPN11 | c.907G>C (p.Asp303His) c.793G>C (p.Asp265His) c.904G>C (p.Asp302His) | dbSNP |
12 | g.112477704G>T | CA386790724 | PTPN11 | c.907G>T (p.Asp303Tyr) c.793G>T (p.Asp265Tyr) c.904G>T (p.Asp302Tyr) | dbSNP |
12 | g.112477705A= | CA2063775757 | PTPN11 | c.908A= (p.Asp303=) c.794A= (p.Asp265=) c.905A= (p.Asp302=) | |
12 | g.112477705A>C | CA386790728 | PTPN11 | c.908A>C (p.Asp303Ala) c.794A>C (p.Asp265Ala) c.905A>C (p.Asp302Ala) | |
12 | g.112477705A>G | CA386790730 | PTPN11 | c.908A>G (p.Asp303Gly) c.794A>G (p.Asp265Gly) c.905A>G (p.Asp302Gly) | dbSNP |
12 | g.112477705A>T | CA386790732 | PTPN11 | c.908A>T (p.Asp303Val) c.794A>T (p.Asp265Val) c.905A>T (p.Asp302Val) | |
12 | g.112477706T>A | CA386790735 | PTPN11 | c.909T>A (p.Asp303Glu) c.795T>A (p.Asp265Glu) c.906T>A (p.Asp302Glu) | |
12 | g.112477706T>C | CA481887696 | PTPN11 | c.909T>C (p.Asp303=) c.795T>C (p.Asp265=) c.906T>C (p.Asp302=) | |
12 | g.112477706T>G | CA386790737 | PTPN11 | c.909T>G (p.Asp303Glu) c.795T>G (p.Asp265Glu) c.906T>G (p.Asp302Glu) | |
12 | g.112477707T>A | CA386790739 | PTPN11 | c.910T>A (p.Tyr304Asn) c.796T>A (p.Tyr266Asn) c.907T>A (p.Tyr303Asn) | dbSNP |
12 | g.112477707T>C | CA386790740 | PTPN11 | c.910T>C (p.Tyr304His) c.796T>C (p.Tyr266His) c.907T>C (p.Tyr303His) | dbSNP |
12 | g.112477707T>G | CA243711935 | PTPN11 | c.910T>G (p.Tyr304Asp) c.796T>G (p.Tyr266Asp) c.907T>G (p.Tyr303Asp) | dbSNP |
12 | g.112477707T= | CA2063775758 | PTPN11 | c.910T= (p.Tyr304=) c.796T= (p.Tyr266=) c.907T= (p.Tyr303=) | |
12 | g.112477708A>C | CA386790743 | PTPN11 | c.911A>C (p.Tyr304Ser) c.797A>C (p.Tyr266Ser) c.908A>C (p.Tyr303Ser) | |
12 | g.112477708A>G | CA386790741 | PTPN11 | c.911A>G (p.Tyr304Cys) c.797A>G (p.Tyr266Cys) c.908A>G (p.Tyr303Cys) | |
12 | g.112477708A>T | CA386790742 | PTPN11 | c.911A>T (p.Tyr304Phe) c.797A>T (p.Tyr266Phe) c.908A>T (p.Tyr303Phe) | dbSNP |
12 | g.112477709C>A | CA386790745 | PTPN11 | c.912C>A (p.Tyr304Ter) c.798C>A (p.Tyr266Ter) c.909C>A (p.Tyr303Ter) | |
12 | g.112477709C= | CA2063775760 | PTPN11 | c.912C= (p.Tyr304=) c.798C= (p.Tyr266=) c.909C= (p.Tyr303=) | |
12 | g.112477709C>G | CA386790751 | PTPN11 | c.912C>G (p.Tyr304Ter) c.798C>G (p.Tyr266Ter) c.909C>G (p.Tyr303Ter) | dbSNP |
12 | g.112477709C>T | CA481887700 | PTPN11 | c.912C>T (p.Tyr304=) c.798C>T (p.Tyr266=) c.909C>T (p.Tyr303=) | ClinVar dbSNP gnomAD v4 |
12 | g.112477710A= | CA2063775763 | PTPN11 | c.913A= (p.Ile305=) c.799A= (p.Ile267=) c.910A= (p.Ile304=) | |
12 | g.112477710A>C | CA386790755 | PTPN11 | c.913A>C (p.Ile305Leu) c.799A>C (p.Ile267Leu) c.910A>C (p.Ile304Leu) | |
12 | g.112477710A>G | CA297100 | PTPN11 | c.913A>G (p.Ile305Val) c.799A>G (p.Ile267Val) c.910A>G (p.Ile304Val) | ClinVar dbSNP gnomAD v4 |
12 | g.112477710A>T | CA386790757 | PTPN11 | c.913A>T (p.Ile305Phe) c.799A>T (p.Ile267Phe) c.910A>T (p.Ile304Phe) | dbSNP |
12 | g.112477711T>A | CA386790760 | PTPN11 | c.914T>A (p.Ile305Asn) c.800T>A (p.Ile267Asn) c.911T>A (p.Ile304Asn) | dbSNP |
12 | g.112477711T>C | CA386790763 | PTPN11 | c.914T>C (p.Ile305Thr) c.800T>C (p.Ile267Thr) c.911T>C (p.Ile304Thr) | |
12 | g.112477711T>G | CA386790765 | PTPN11 | c.914T>G (p.Ile305Ser) c.800T>G (p.Ile267Ser) c.911T>G (p.Ile304Ser) | |
12 | g.112477712C>A | CA481887706 | PTPN11 | c.915C>A (p.Ile305=) c.801C>A (p.Ile267=) c.912C>A (p.Ile304=) | |
12 | g.112477712C= | CA2063775765 | PTPN11 | c.915C= (p.Ile305=) c.801C= (p.Ile267=) c.912C= (p.Ile304=) | |
12 | g.112477712C>G | CA386790766 | PTPN11 | c.915C>G (p.Ile305Met) c.801C>G (p.Ile267Met) c.912C>G (p.Ile304Met) | dbSNP |
12 | g.112477712C>T | CA481887708 | PTPN11 | c.915C>T (p.Ile305=) c.801C>T (p.Ile267=) c.912C>T (p.Ile304=) | ClinVar dbSNP |
12 | g.112477713A>C | CA386790769 | PTPN11 | c.916A>C (p.Asn306His) c.802A>C (p.Asn268His) c.913A>C (p.Asn305His) | |
12 | g.112477713A>G | CA386790772 | PTPN11 | c.916A>G (p.Asn306Asp) c.802A>G (p.Asn268Asp) c.913A>G (p.Asn305Asp) | |
12 | g.112477713A>T | CA386790773 | PTPN11 | c.916A>T (p.Asn306Tyr) c.802A>T (p.Asn268Tyr) c.913A>T (p.Asn305Tyr) | |
12 | g.112477714A>C | CA386790779 | PTPN11 | c.917A>C (p.Asn306Thr) c.803A>C (p.Asn268Thr) c.914A>C (p.Asn305Thr) | |
12 | g.112477714A>G | CA386790776 | PTPN11 | c.917A>G (p.Asn306Ser) c.803A>G (p.Asn268Ser) c.914A>G (p.Asn305Ser) | COSMIC |
12 | g.112477714A>T | CA386790775 | PTPN11 | c.917A>T (p.Asn306Ile) c.803A>T (p.Asn268Ile) c.914A>T (p.Asn305Ile) | dbSNP |
12 | g.112477715T>A | CA386790784 | PTPN11 | c.918T>A (p.Asn306Lys) c.804T>A (p.Asn268Lys) c.915T>A (p.Asn305Lys) | dbSNP |
12 | g.112477715T>C | CA481887715 | PTPN11 | c.918T>C (p.Asn306=) c.804T>C (p.Asn268=) c.915T>C (p.Asn305=) | |
12 | g.112477715T>G | CA386790785 | PTPN11 | c.918T>G (p.Asn306Lys) c.804T>G (p.Asn268Lys) c.915T>G (p.Asn305Lys) | |
12 | g.112477718_112477741del | CA2695199174 | PTPN11 | c.921_933+11del c.807_819+11del c.918_930+11del | ClinVar |
12 | g.112477716G>A | CA386790787 | PTPN11 | c.919G>A (p.Ala307Thr) c.805G>A (p.Ala269Thr) c.916G>A (p.Ala306Thr) | dbSNP |
12 | g.112477716G>C | CA386790789 | PTPN11 | c.919G>C (p.Ala307Pro) c.805G>C (p.Ala269Pro) c.916G>C (p.Ala306Pro) | dbSNP |
12 | g.112477716G>T | CA386790791 | PTPN11 | c.919G>T (p.Ala307Ser) c.805G>T (p.Ala269Ser) c.916G>T (p.Ala306Ser) | gnomAD v4 |
12 | g.112477717C>A | CA386790793 | PTPN11 | c.920C>A (p.Ala307Glu) c.806C>A (p.Ala269Glu) c.917C>A (p.Ala306Glu) | COSMIC |
12 | g.112477717C>G | CA386790796 | PTPN11 | c.920C>G (p.Ala307Gly) c.806C>G (p.Ala269Gly) c.917C>G (p.Ala306Gly) | |
12 | g.112477717C>T | CA386790797 | PTPN11 | c.920C>T (p.Ala307Val) c.806C>T (p.Ala269Val) c.917C>T (p.Ala306Val) | |
12 | g.112477718A= | CA2063775769 | PTPN11 | c.921A= (p.Ala307=) c.807A= (p.Ala269=) c.918A= (p.Ala306=) | |
12 | g.112477718A>C | CA481887719 | PTPN11 | c.921A>C (p.Ala307=) c.807A>C (p.Ala269=) c.918A>C (p.Ala306=) | |
12 | g.112477718A>G | CA243711940 | PTPN11 | c.921A>G (p.Ala307=) c.807A>G (p.Ala269=) c.918A>G (p.Ala306=) | dbSNP |
12 | g.112477718A>T | CA481887724 | PTPN11 | c.921A>T (p.Ala307=) c.807A>T (p.Ala269=) c.918A>T (p.Ala306=) | dbSNP |
12 | g.112477719A= | CA2063775772 | PTPN11 | c.922A= (p.Asn308=) c.808A= (p.Asn270=) c.919A= (p.Asn307=) | |
12 | g.112477719A>C | CA386790803 | PTPN11 | c.922A>C (p.Asn308His) c.808A>C (p.Asn270His) c.919A>C (p.Asn307His) | |
12 | g.112477719A>G | CA220158 | PTPN11 | c.922A>G (p.Asn308Asp) c.808A>G (p.Asn270Asp) c.919A>G (p.Asn307Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477719A>T | CA386790812 | PTPN11 | c.922A>T (p.Asn308Tyr) c.808A>T (p.Asn270Tyr) c.919A>T (p.Asn307Tyr) | |
12 | g.112477720A= | CA2063775782 | PTPN11 | c.923A= (p.Asn308=) c.809A= (p.Asn270=) c.920A= (p.Asn307=) | |
12 | g.112477720A>C | CA261607 | PTPN11 | c.923A>C (p.Asn308Thr) c.809A>C (p.Asn270Thr) c.920A>C (p.Asn307Thr) | ClinVar dbSNP COSMIC |
12 | g.112477720A>G | CA235328 | PTPN11 | c.923A>G (p.Asn308Ser) c.809A>G (p.Asn270Ser) c.920A>G (p.Asn307Ser) | ClinVar dbSNP COSMIC |
12 | g.112477720A>T | CA386790819 | PTPN11 | c.923A>T (p.Asn308Ile) c.809A>T (p.Asn270Ile) c.920A>T (p.Asn307Ile) | |
12 | g.112477721T>A | CA386790823 | PTPN11 | c.924T>A (p.Asn308Lys) c.810T>A (p.Asn270Lys) c.921T>A (p.Asn307Lys) | dbSNP |
12 | g.112477721T>C | CA481887726 | PTPN11 | c.924T>C (p.Asn308=) c.810T>C (p.Asn270=) c.921T>C (p.Asn307=) | |
12 | g.112477721T>G | CA386790829 | PTPN11 | c.924T>G (p.Asn308Lys) c.810T>G (p.Asn270Lys) c.921T>G (p.Asn307Lys) | |
12 | g.112477722A= | CA2063775795 | PTPN11 | c.925A= (p.Ile309=) c.811A= (p.Ile271=) c.922A= (p.Ile308=) | |
12 | g.112477722A>C | CA386790833 | PTPN11 | c.925A>C (p.Ile309Leu) c.811A>C (p.Ile271Leu) c.922A>C (p.Ile308Leu) | |
12 | g.112477722A>G | CA177674 | PTPN11 | c.925A>G (p.Ile309Val) c.811A>G (p.Ile271Val) c.922A>G (p.Ile308Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477722A>T | CA386790836 | PTPN11 | c.925A>T (p.Ile309Phe) c.811A>T (p.Ile271Phe) c.922A>T (p.Ile308Phe) | |
12 | g.112477723T>A | CA386790838 | PTPN11 | c.926T>A (p.Ile309Asn) c.812T>A (p.Ile271Asn) c.923T>A (p.Ile308Asn) | |
12 | g.112477723T>C | CA386790840 | PTPN11 | c.926T>C (p.Ile309Thr) c.812T>C (p.Ile271Thr) c.923T>C (p.Ile308Thr) | |
12 | g.112477723T>G | CA386790843 | PTPN11 | c.926T>G (p.Ile309Ser) c.812T>G (p.Ile271Ser) c.923T>G (p.Ile308Ser) | |
12 | g.112477724C>A | CA481887731 | PTPN11 | c.927C>A (p.Ile309=) c.813C>A (p.Ile271=) c.924C>A (p.Ile308=) | |
12 | g.112477724C>G | CA386790848 | PTPN11 | c.927C>G (p.Ile309Met) c.813C>G (p.Ile271Met) c.924C>G (p.Ile308Met) | dbSNP |
12 | g.112477724C>T | CA481887736 | PTPN11 | c.927C>T (p.Ile309=) c.813C>T (p.Ile271=) c.924C>T (p.Ile308=) | dbSNP |
12 | g.112477725A>C | CA386790852 | PTPN11 | c.928A>C (p.Ile310Leu) c.814A>C (p.Ile272Leu) c.925A>C (p.Ile309Leu) | gnomAD v4 |
12 | g.112477725A>G | CA386790856 | PTPN11 | c.928A>G (p.Ile310Val) c.814A>G (p.Ile272Val) c.925A>G (p.Ile309Val) | |
12 | g.112477725A>T | CA386790859 | PTPN11 | c.928A>T (p.Ile310Phe) c.814A>T (p.Ile272Phe) c.925A>T (p.Ile309Phe) | |
12 | g.112477726T>A | CA386790864 | PTPN11 | c.929T>A (p.Ile310Asn) c.815T>A (p.Ile272Asn) c.926T>A (p.Ile309Asn) | |
12 | g.112477726T>C | CA386790866 | PTPN11 | c.929T>C (p.Ile310Thr) c.815T>C (p.Ile272Thr) c.926T>C (p.Ile309Thr) | |
12 | g.112477726T>G | CA386790868 | PTPN11 | c.929T>G (p.Ile310Ser) c.815T>G (p.Ile272Ser) c.926T>G (p.Ile309Ser) | |
12 | g.112477727C>A | CA481887738 | PTPN11 | c.930C>A (p.Ile310=) c.816C>A (p.Ile272=) c.927C>A (p.Ile309=) | |
12 | g.112477727C>G | CA386790872 | PTPN11 | c.930C>G (p.Ile310Met) c.816C>G (p.Ile272Met) c.927C>G (p.Ile309Met) | dbSNP |
12 | g.112477727C>T | CA481887739 | PTPN11 | c.930C>T (p.Ile310=) c.816C>T (p.Ile272=) c.927C>T (p.Ile309=) | dbSNP |
12 | g.112477728A= | CA2063775801 | PTPN11 | c.931A= (p.Met311=) c.817A= (p.Met273=) c.928A= (p.Met310=) | |
12 | g.112477728A>C | CA386790874 | PTPN11 | c.931A>C (p.Met311Leu) c.817A>C (p.Met273Leu) c.928A>C (p.Met310Leu) | |
12 | g.112477728A>G | CA6798676 | PTPN11 | c.931A>G (p.Met311Val) c.817A>G (p.Met273Val) c.928A>G (p.Met310Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112477728A>T | CA386790875 | PTPN11 | c.931A>T (p.Met311Leu) c.817A>T (p.Met273Leu) c.928A>T (p.Met310Leu) | gnomAD v4 |
12 | g.112477729T>A | CA386790877 | PTPN11 | c.932T>A (p.Met311Lys) c.818T>A (p.Met273Lys) c.929T>A (p.Met310Lys) | dbSNP |
12 | g.112477729T>C | CA6798677 | PTPN11 | c.932T>C (p.Met311Thr) c.818T>C (p.Met273Thr) c.929T>C (p.Met310Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112477729T>G | CA386790883 | PTPN11 | c.932T>G (p.Met311Arg) c.818T>G (p.Met273Arg) c.929T>G (p.Met310Arg) | |
12 | g.112477729T= | CA2063775805 | PTPN11 | c.932T= (p.Met311=) c.818T= (p.Met273=) c.929T= (p.Met310=) | |
12 | g.112477730G>A | CA386790886 | PTPN11 | c.933G>A (p.Met311Ile) c.819G>A (p.Met273Ile) c.930G>A (p.Met310Ile) | dbSNP |
12 | g.112477730G>C | CA386790888 | PTPN11 | c.933G>C (p.Met311Ile) c.819G>C (p.Met273Ile) c.930G>C (p.Met310Ile) | dbSNP |
12 | g.112477730G>T | CA386790889 | PTPN11 | c.933G>T (p.Met311Ile) c.819G>T (p.Met273Ile) c.930G>T (p.Met310Ile) | |
12 | g.112477731G>A | CA386790890 | PTPN11 | c.933+1G>A (n.933+1G>A) c.819+1G>A (n.819+1G>A) c.930+1G>A (n.930+1G>A) | dbSNP |
12 | g.112477731G>C | CA386790893 | PTPN11 | c.933+1G>C (n.933+1G>C) c.819+1G>C (n.819+1G>C) c.930+1G>C (n.930+1G>C) | dbSNP |
12 | g.112477731G>T | CA386790895 | PTPN11 | c.933+1G>T (n.933+1G>T) c.819+1G>T (n.819+1G>T) c.930+1G>T (n.930+1G>T) | |
12 | g.112477732T>A | CA386790899 | PTPN11 | c.933+2T>A (n.933+2T>A) c.819+2T>A (n.819+2T>A) c.930+2T>A (n.930+2T>A) | dbSNP |
12 | g.112477732T>C | CA386790903 | PTPN11 | c.933+2T>C (n.933+2T>C) c.819+2T>C (n.819+2T>C) c.930+2T>C (n.930+2T>C) | |
12 | g.112477732T>G | CA386790906 | PTPN11 | c.933+2T>G (n.933+2T>G) c.819+2T>G (n.819+2T>G) c.930+2T>G (n.930+2T>G) | |
12 | g.112477734A= | CA2063775808 | PTPN11 | c.933+4A= (n.933+4A=) c.819+4A= (n.819+4A=) c.930+4A= (n.930+4A=) | |
12 | g.112477734A>T | CA913190493 | PTPN11 | c.933+4A>T (n.933+4A>T) c.819+4A>T (n.819+4A>T) c.930+4A>T (n.930+4A>T) | ClinVar dbSNP |
12 | g.112477735G>A | CA2621024626 | PTPN11 | c.933+5G>A (n.933+5G>A) c.819+5G>A (n.819+5G>A) c.930+5G>A (n.930+5G>A) | gnomAD v4 |
12 | g.112477735G>C | CA2727224594 | PTPN11 | c.933+5G>C (n.933+5G>C) c.819+5G>C (n.819+5G>C) c.930+5G>C (n.930+5G>C) | dbSNP |
12 | g.112477736C>A | CA2727224628 | PTPN11 | c.933+6C>A (n.933+6C>A) c.819+6C>A (n.819+6C>A) c.930+6C>A (n.930+6C>A) | dbSNP |
12 | g.112477736C>G | CA2727224633 | PTPN11 | c.933+6C>G (n.933+6C>G) c.819+6C>G (n.819+6C>G) c.930+6C>G (n.930+6C>G) | dbSNP |
12 | g.112477736C>T | CA2727224634 | PTPN11 | c.933+6C>T (n.933+6C>T) c.819+6C>T (n.819+6C>T) c.930+6C>T (n.930+6C>T) | dbSNP |