Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.112489074C>A | CA386779818 | PTPN11 | c.1498C>A (p.Gln500Lys) n.163C>A c.1384C>A (p.Gln462Lys) c.1224+6869C>A (n.1224+6869C>A) n.742C>A n.707C>A c.*44C>A (n.*44C>A) c.1510C>A (p.Gln504Lys) c.511C>A (p.Gln171Lys) c.1396C>A (p.Gln466Lys) c.1507C>A (p.Gln503Lys) c.1495C>A (p.Gln499Lys) | |
12 | g.112489074C= | CA2063740949 | PTPN11 | c.1498C= (p.Gln500=) n.163C= c.1384C= (p.Gln462=) c.1224+6869C= (n.1224+6869C=) n.742C= n.707C= c.*44C= (n.*44C=) c.1510C= (p.Gln504=) c.511C= (p.Gln171=) c.1396C= (p.Gln466=) c.1507C= (p.Gln503=) c.1495C= (p.Gln499=) | |
12 | g.112489074C>G | CA386779820 | PTPN11 | c.1498C>G (p.Gln500Glu) n.163C>G c.1384C>G (p.Gln462Glu) c.1224+6869C>G (n.1224+6869C>G) n.742C>G n.707C>G c.*44C>G (n.*44C>G) c.1510C>G (p.Gln504Glu) c.511C>G (p.Gln171Glu) c.1396C>G (p.Gln466Glu) c.1507C>G (p.Gln503Glu) c.1495C>G (p.Gln499Glu) | ClinVar dbSNP |
12 | g.112489074C>T | CA386779822 | PTPN11 | c.1498C>T (p.Gln500Ter) n.163C>T c.1384C>T (p.Gln462Ter) c.1224+6869C>T (n.1224+6869C>T) n.742C>T n.707C>T c.*44C>T (n.*44C>T) c.1510C>T (p.Gln504Ter) c.511C>T (p.Gln171Ter) c.1396C>T (p.Gln466Ter) c.1507C>T (p.Gln503Ter) c.1495C>T (p.Gln499Ter) | dbSNP COSMIC |
12 | g.112489075A= | CA2063740956 | PTPN11 | c.1499A= (p.Gln500=) n.164A= c.1385A= (p.Gln462=) c.1224+6870A= (n.1224+6870A=) n.743A= n.708A= c.*45A= (n.*45A=) c.1511A= (p.Gln504=) c.512A= (p.Gln171=) c.1397A= (p.Gln466=) c.1508A= (p.Gln503=) c.1496A= (p.Gln499=) | |
12 | g.112489075A>C | CA386779823 | PTPN11 | c.1499A>C (p.Gln500Pro) n.164A>C c.1385A>C (p.Gln462Pro) c.1224+6870A>C (n.1224+6870A>C) n.743A>C n.708A>C c.*45A>C (n.*45A>C) c.1511A>C (p.Gln504Pro) c.512A>C (p.Gln171Pro) c.1397A>C (p.Gln466Pro) c.1508A>C (p.Gln503Pro) c.1496A>C (p.Gln499Pro) | dbSNP |
12 | g.112489075A>G | CA386779826 | PTPN11 | c.1499A>G (p.Gln500Arg) n.164A>G c.1385A>G (p.Gln462Arg) c.1224+6870A>G (n.1224+6870A>G) n.743A>G n.708A>G c.*45A>G (n.*45A>G) c.1511A>G (p.Gln504Arg) c.512A>G (p.Gln171Arg) c.1397A>G (p.Gln466Arg) c.1508A>G (p.Gln503Arg) c.1496A>G (p.Gln499Arg) | ClinVar dbSNP |
12 | g.112489075A>T | CA386779828 | PTPN11 | c.1499A>T (p.Gln500Leu) n.164A>T c.1385A>T (p.Gln462Leu) c.1224+6870A>T (n.1224+6870A>T) n.743A>T n.708A>T c.*45A>T (n.*45A>T) c.1511A>T (p.Gln504Leu) c.512A>T (p.Gln171Leu) c.1397A>T (p.Gln466Leu) c.1508A>T (p.Gln503Leu) c.1496A>T (p.Gln499Leu) | dbSNP |
12 | g.112489076G>A | CA481882208 | PTPN11 | c.1500G>A (p.Gln500=) n.165G>A c.1386G>A (p.Gln462=) c.1224+6871G>A (n.1224+6871G>A) n.744G>A n.709G>A c.*46G>A (n.*46G>A) c.1512G>A (p.Gln504=) c.513G>A (p.Gln171=) c.1398G>A (p.Gln466=) c.1509G>A (p.Gln503=) c.1497G>A (p.Gln499=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.112489076G>C | CA386779829 | PTPN11 | c.1500G>C (p.Gln500His) n.165G>C c.1386G>C (p.Gln462His) c.1224+6871G>C (n.1224+6871G>C) n.744G>C n.709G>C c.*46G>C (n.*46G>C) c.1512G>C (p.Gln504His) c.513G>C (p.Gln171His) c.1398G>C (p.Gln466His) c.1509G>C (p.Gln503His) c.1497G>C (p.Gln499His) | dbSNP |
12 | g.112489076G= | CA2063740962 | PTPN11 | c.1500G= (p.Gln500=) n.165G= c.1386G= (p.Gln462=) c.1224+6871G= (n.1224+6871G=) n.744G= n.709G= c.*46G= (n.*46G=) c.1512G= (p.Gln504=) c.513G= (p.Gln171=) c.1398G= (p.Gln466=) c.1509G= (p.Gln503=) c.1497G= (p.Gln499=) | |
12 | g.112489076G>T | CA386779830 | PTPN11 | c.1500G>T (p.Gln500His) n.165G>T c.1386G>T (p.Gln462His) c.1224+6871G>T (n.1224+6871G>T) n.744G>T n.709G>T c.*46G>T (n.*46G>T) c.1512G>T (p.Gln504His) c.513G>T (p.Gln171His) c.1398G>T (p.Gln466His) c.1509G>T (p.Gln503His) c.1497G>T (p.Gln499His) | ClinVar dbSNP |
12 | g.112489077A>C | CA481882210 | PTPN11 | c.1501A>C (p.Arg501=) n.166A>C c.1387A>C (p.Arg463=) c.1224+6872A>C (n.1224+6872A>C) n.745A>C n.710A>C c.*47A>C (n.*47A>C) c.1513A>C (p.Arg505=) c.514A>C (p.Arg172=) c.1399A>C (p.Arg467=) c.1510A>C (p.Arg504=) c.1498A>C (p.Arg500=) | |
12 | g.112489077A>G | CA386779831 | PTPN11 | c.1501A>G (p.Arg501Gly) n.166A>G c.1387A>G (p.Arg463Gly) c.1224+6872A>G (n.1224+6872A>G) n.745A>G n.710A>G c.*47A>G (n.*47A>G) c.1513A>G (p.Arg505Gly) c.514A>G (p.Arg172Gly) c.1399A>G (p.Arg467Gly) c.1510A>G (p.Arg504Gly) c.1498A>G (p.Arg500Gly) | dbSNP |
12 | g.112489077A>T | CA386779832 | PTPN11 | c.1501A>T (p.Arg501Trp) n.166A>T c.1387A>T (p.Arg463Trp) c.1224+6872A>T (n.1224+6872A>T) n.745A>T n.710A>T c.*47A>T (n.*47A>T) c.1513A>T (p.Arg505Trp) c.514A>T (p.Arg172Trp) c.1399A>T (p.Arg467Trp) c.1510A>T (p.Arg504Trp) c.1498A>T (p.Arg500Trp) | dbSNP |
12 | g.112489078G>A | CA261549 | PTPN11 | c.1502G>A (p.Arg501Lys) n.167G>A c.1388G>A (p.Arg463Lys) c.1224+6873G>A (n.1224+6873G>A) n.746G>A n.711G>A c.*48G>A (n.*48G>A) c.1514G>A (p.Arg505Lys) c.515G>A (p.Arg172Lys) c.1400G>A (p.Arg467Lys) c.1511G>A (p.Arg504Lys) c.1499G>A (p.Arg500Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112489078G>C | CA386779837 | PTPN11 | c.1502G>C (p.Arg501Thr) n.167G>C c.1388G>C (p.Arg463Thr) c.1224+6873G>C (n.1224+6873G>C) n.746G>C n.711G>C c.*48G>C (n.*48G>C) c.1514G>C (p.Arg505Thr) c.515G>C (p.Arg172Thr) c.1400G>C (p.Arg467Thr) c.1511G>C (p.Arg504Thr) c.1499G>C (p.Arg500Thr) | |
12 | g.112489078G= | CA2063740970 | PTPN11 | c.1502G= (p.Arg501=) n.167G= c.1388G= (p.Arg463=) c.1224+6873G= (n.1224+6873G=) n.746G= n.711G= c.*48G= (n.*48G=) c.1514G= (p.Arg505=) c.515G= (p.Arg172=) c.1400G= (p.Arg467=) c.1511G= (p.Arg504=) c.1499G= (p.Arg500=) | |
12 | g.112489078G>T | CA386779835 | PTPN11 | c.1502G>T (p.Arg501Met) n.167G>T c.1388G>T (p.Arg463Met) c.1224+6873G>T (n.1224+6873G>T) n.746G>T n.711G>T c.*48G>T (n.*48G>T) c.1514G>T (p.Arg505Met) c.515G>T (p.Arg172Met) c.1400G>T (p.Arg467Met) c.1511G>T (p.Arg504Met) c.1499G>T (p.Arg500Met) | |
12 | g.112489079G>A | CA481882216 | PTPN11 | c.1503G>A (p.Arg501=) n.168G>A c.1389G>A (p.Arg463=) c.1224+6874G>A (n.1224+6874G>A) n.747G>A n.712G>A c.*49G>A (n.*49G>A) c.1515G>A (p.Arg505=) c.516G>A (p.Arg172=) c.1401G>A (p.Arg467=) c.1512G>A (p.Arg504=) c.1500G>A (p.Arg500=) | dbSNP |
12 | g.112489079G>C | CA386779838 | PTPN11 | c.1503G>C (p.Arg501Ser) n.168G>C c.1389G>C (p.Arg463Ser) c.1224+6874G>C (n.1224+6874G>C) n.747G>C n.712G>C c.*49G>C (n.*49G>C) c.1515G>C (p.Arg505Ser) c.516G>C (p.Arg172Ser) c.1401G>C (p.Arg467Ser) c.1512G>C (p.Arg504Ser) c.1500G>C (p.Arg500Ser) | dbSNP |
12 | g.112489079G>T | CA386779839 | PTPN11 | c.1503G>T (p.Arg501Ser) n.168G>T c.1389G>T (p.Arg463Ser) c.1224+6874G>T (n.1224+6874G>T) n.747G>T n.712G>T c.*49G>T (n.*49G>T) c.1515G>T (p.Arg505Ser) c.516G>T (p.Arg172Ser) c.1401G>T (p.Arg467Ser) c.1512G>T (p.Arg504Ser) c.1500G>T (p.Arg500Ser) | |
12 | g.112489080T>A | CA180739 | PTPN11 | c.1504T>A (p.Ser502Thr) n.169T>A c.1390T>A (p.Ser464Thr) c.1224+6875T>A (n.1224+6875T>A) n.748T>A n.713T>A c.*50T>A (n.*50T>A) c.1516T>A (p.Ser506Thr) c.517T>A (p.Ser173Thr) c.1402T>A (p.Ser468Thr) c.1513T>A (p.Ser505Thr) c.1501T>A (p.Ser501Thr) | ClinVar dbSNP COSMIC |
12 | g.112489080T>C | CA386779842 | PTPN11 | c.1504T>C (p.Ser502Pro) n.169T>C c.1390T>C (p.Ser464Pro) c.1224+6875T>C (n.1224+6875T>C) n.748T>C n.713T>C c.*50T>C (n.*50T>C) c.1516T>C (p.Ser506Pro) c.517T>C (p.Ser173Pro) c.1402T>C (p.Ser468Pro) c.1513T>C (p.Ser505Pro) c.1501T>C (p.Ser501Pro) | dbSNP COSMIC |
12 | g.112489080T>G | CA273454 | PTPN11 | c.1504T>G (p.Ser502Ala) n.169T>G c.1390T>G (p.Ser464Ala) c.1224+6875T>G (n.1224+6875T>G) n.748T>G n.713T>G c.*50T>G (n.*50T>G) c.1516T>G (p.Ser506Ala) c.517T>G (p.Ser173Ala) c.1402T>G (p.Ser468Ala) c.1513T>G (p.Ser505Ala) c.1501T>G (p.Ser501Ala) | ClinVar dbSNP COSMIC |
12 | g.112489080T= | CA2063740982 | PTPN11 | c.1504T= (p.Ser502=) n.169T= c.1390T= (p.Ser464=) c.1224+6875T= (n.1224+6875T=) n.748T= n.713T= c.*50T= (n.*50T=) c.1516T= (p.Ser506=) c.517T= (p.Ser173=) c.1402T= (p.Ser468=) c.1513T= (p.Ser505=) c.1501T= (p.Ser501=) | |
12 | g.112489081C>A | CA386779844 | PTPN11 | c.1505C>A (p.Ser502Ter) n.170C>A c.1391C>A (p.Ser464Ter) c.1224+6876C>A (n.1224+6876C>A) n.749C>A n.714C>A c.*51C>A (n.*51C>A) c.1517C>A (p.Ser506Ter) c.518C>A (p.Ser173Ter) c.1403C>A (p.Ser468Ter) c.1514C>A (p.Ser505Ter) c.1502C>A (p.Ser501Ter) | |
12 | g.112489081C= | CA2063740992 | PTPN11 | c.1505C= (p.Ser502=) n.170C= c.1391C= (p.Ser464=) c.1224+6876C= (n.1224+6876C=) n.749C= n.714C= c.*51C= (n.*51C=) c.1517C= (p.Ser506=) c.518C= (p.Ser173=) c.1403C= (p.Ser468=) c.1514C= (p.Ser505=) c.1502C= (p.Ser501=) | |
12 | g.112489081C>G | CA386779846 | PTPN11 | c.1505C>G (p.Ser502Ter) n.170C>G c.1391C>G (p.Ser464Ter) c.1224+6876C>G (n.1224+6876C>G) n.749C>G n.714C>G c.*51C>G (n.*51C>G) c.1517C>G (p.Ser506Ter) c.518C>G (p.Ser173Ter) c.1403C>G (p.Ser468Ter) c.1514C>G (p.Ser505Ter) c.1502C>G (p.Ser501Ter) | dbSNP |
12 | g.112489081C>T | CA261552 | PTPN11 | c.1505C>T (p.Ser502Leu) n.170C>T c.1391C>T (p.Ser464Leu) c.1224+6876C>T (n.1224+6876C>T) n.749C>T n.714C>T c.*51C>T (n.*51C>T) c.1517C>T (p.Ser506Leu) c.518C>T (p.Ser173Leu) c.1403C>T (p.Ser468Leu) c.1514C>T (p.Ser505Leu) c.1502C>T (p.Ser501Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112489082A>C | CA481882226 | PTPN11 | c.1506A>C (p.Ser502=) n.171A>C c.1392A>C (p.Ser464=) c.1224+6877A>C (n.1224+6877A>C) n.750A>C n.715A>C c.*52A>C (n.*52A>C) c.1518A>C (p.Ser506=) c.519A>C (p.Ser173=) c.1404A>C (p.Ser468=) c.1515A>C (p.Ser505=) c.1503A>C (p.Ser501=) | |
12 | g.112489082A>G | CA481882231 | PTPN11 | c.1506A>G (p.Ser502=) n.171A>G c.1392A>G (p.Ser464=) c.1224+6877A>G (n.1224+6877A>G) n.750A>G n.715A>G c.*52A>G (n.*52A>G) c.1518A>G (p.Ser506=) c.519A>G (p.Ser173=) c.1404A>G (p.Ser468=) c.1515A>G (p.Ser505=) c.1503A>G (p.Ser501=) | ClinVar |
12 | g.112489082A>T | CA481882232 | PTPN11 | c.1506A>T (p.Ser502=) n.171A>T c.1392A>T (p.Ser464=) c.1224+6877A>T (n.1224+6877A>T) n.750A>T n.715A>T c.*52A>T (n.*52A>T) c.1518A>T (p.Ser506=) c.519A>T (p.Ser173=) c.1404A>T (p.Ser468=) c.1515A>T (p.Ser505=) c.1503A>T (p.Ser501=) | |
12 | g.112489082_112489083delinsAG | CA2063740996 | PTPN11 | c.1506_1507delinsAG (p.Ser502=) n.171_172delinsAG c.1392_1393delinsAG (p.Ser464=) c.1224+6877_1224+6878delinsAG (n.1224+6877_1224+6878delinsAG) n.750_751delinsAG n.715_716delinsAG c.*52_*53delinsAG (n.*52_*53delinsAG) c.1518_1519delinsAG (p.Ser506=) c.519_520delinsAG (p.Ser173=) c.1404_1405delinsAG (p.Ser468=) c.1515_1516delinsAG (p.Ser505=) c.1503_1504delinsAG (p.Ser501=) | |
12 | g.112489082_112489083delinsCC | CA891844000 | PTPN11 | c.1506_1507delinsCC (p.Gly503Arg) n.171_172delinsCC c.1392_1393delinsCC (p.Gly465Arg) c.1224+6877_1224+6878delinsCC (n.1224+6877_1224+6878delinsCC) n.750_751delinsCC n.715_716delinsCC c.*52_*53delinsCC (n.*52_*53delinsCC) c.1518_1519delinsCC (p.Gly507Arg) c.519_520delinsCC (p.Gly174Arg) c.1404_1405delinsCC (p.Gly469Arg) c.1515_1516delinsCC (p.Gly506Arg) c.1503_1504delinsCC (p.Gly502Arg) | ClinVar dbSNP |
12 | g.112489083G>A | CA220137 | PTPN11 | c.1507G>A (p.Gly503Arg) n.172G>A c.1393G>A (p.Gly465Arg) c.1224+6878G>A (n.1224+6878G>A) n.751G>A n.716G>A c.*53G>A (n.*53G>A) c.1519G>A (p.Gly507Arg) c.520G>A (p.Gly174Arg) c.1405G>A (p.Gly469Arg) c.1516G>A (p.Gly506Arg) c.1504G>A (p.Gly502Arg) | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.112489083G>C | CA273459 | PTPN11 | c.1507G>C (p.Gly503Arg) n.172G>C c.1393G>C (p.Gly465Arg) c.1224+6878G>C (n.1224+6878G>C) n.751G>C n.716G>C c.*53G>C (n.*53G>C) c.1519G>C (p.Gly507Arg) c.520G>C (p.Gly174Arg) c.1405G>C (p.Gly469Arg) c.1516G>C (p.Gly506Arg) c.1504G>C (p.Gly502Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.112489083G= | CA2063741009 | PTPN11 | c.1507G= (p.Gly503=) n.172G= c.1393G= (p.Gly465=) c.1224+6878G= (n.1224+6878G=) n.751G= n.716G= c.*53G= (n.*53G=) c.1519G= (p.Gly507=) c.520G= (p.Gly174=) c.1405G= (p.Gly469=) c.1516G= (p.Gly506=) c.1504G= (p.Gly502=) | |
12 | g.112489083G>T | CA386779849 | PTPN11 | c.1507G>T (p.Gly503Trp) n.172G>T c.1393G>T (p.Gly465Trp) c.1224+6878G>T (n.1224+6878G>T) n.751G>T n.716G>T c.*53G>T (n.*53G>T) c.1519G>T (p.Gly507Trp) c.520G>T (p.Gly174Trp) c.1405G>T (p.Gly469Trp) c.1516G>T (p.Gly506Trp) c.1504G>T (p.Gly502Trp) | dbSNP COSMIC |
12 | g.112489083_112489084delinsCT | CA645586231 | PTPN11 | c.1507_1508delinsCT (p.Gly503Leu) n.172_173delinsCT c.1393_1394delinsCT (p.Gly465Leu) c.1224+6878_1224+6879delinsCT (n.1224+6878_1224+6879delinsCT) n.751_752delinsCT n.716_717delinsCT c.*53_*54delinsCT (n.*53_*54delinsCT) c.1519_1520delinsCT (p.Gly507Leu) c.520_521delinsCT (p.Gly174Leu) c.1405_1406delinsCT (p.Gly469Leu) c.1516_1517delinsCT (p.Gly506Leu) c.1504_1505delinsCT (p.Gly502Leu) | COSMIC |
12 | g.112489084G>A | CA282132 | PTPN11 | c.1508G>A (p.Gly503Glu) n.173G>A c.1394G>A (p.Gly465Glu) c.1224+6879G>A (n.1224+6879G>A) n.752G>A n.717G>A c.*54G>A (n.*54G>A) c.1520G>A (p.Gly507Glu) c.521G>A (p.Gly174Glu) c.1406G>A (p.Gly469Glu) c.1517G>A (p.Gly506Glu) c.1505G>A (p.Gly502Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.112489084G>C | CA250293 | PTPN11 | c.1508G>C (p.Gly503Ala) n.173G>C c.1394G>C (p.Gly465Ala) c.1224+6879G>C (n.1224+6879G>C) n.752G>C n.717G>C c.*54G>C (n.*54G>C) c.1520G>C (p.Gly507Ala) c.521G>C (p.Gly174Ala) c.1406G>C (p.Gly469Ala) c.1517G>C (p.Gly506Ala) c.1505G>C (p.Gly502Ala) | ClinVar dbSNP COSMIC |
12 | g.112489084G= | CA2063741037 | PTPN11 | c.1508G= (p.Gly503=) n.173G= c.1394G= (p.Gly465=) c.1224+6879G= (n.1224+6879G=) n.752G= n.717G= c.*54G= (n.*54G=) c.1520G= (p.Gly507=) c.521G= (p.Gly174=) c.1406G= (p.Gly469=) c.1517G= (p.Gly506=) c.1505G= (p.Gly502=) | |
12 | g.112489084G>T | CA282129 | PTPN11 | c.1508G>T (p.Gly503Val) n.173G>T c.1394G>T (p.Gly465Val) c.1224+6879G>T (n.1224+6879G>T) n.752G>T n.717G>T c.*54G>T (n.*54G>T) c.1520G>T (p.Gly507Val) c.521G>T (p.Gly174Val) c.1406G>T (p.Gly469Val) c.1517G>T (p.Gly506Val) c.1505G>T (p.Gly502Val) | ClinVar dbSNP COSMIC |
12 | g.112489085G>A | CA243714508 | PTPN11 | c.1509G>A (p.Gly503=) n.174G>A c.1395G>A (p.Gly465=) c.1224+6880G>A (n.1224+6880G>A) n.753G>A n.718G>A c.*55G>A (n.*55G>A) c.1521G>A (p.Gly507=) c.522G>A (p.Gly174=) c.1407G>A (p.Gly469=) c.1518G>A (p.Gly506=) c.1506G>A (p.Gly502=) | dbSNP gnomAD v4 |
12 | g.112489085G>C | CA481882245 | PTPN11 | c.1509G>C (p.Gly503=) n.174G>C c.1395G>C (p.Gly465=) c.1224+6880G>C (n.1224+6880G>C) n.753G>C n.718G>C c.*55G>C (n.*55G>C) c.1521G>C (p.Gly507=) c.522G>C (p.Gly174=) c.1407G>C (p.Gly469=) c.1518G>C (p.Gly506=) c.1506G>C (p.Gly502=) | dbSNP |
12 | g.112489085G= | CA2063741044 | PTPN11 | c.1509G= (p.Gly503=) n.174G= c.1395G= (p.Gly465=) c.1224+6880G= (n.1224+6880G=) n.753G= n.718G= c.*55G= (n.*55G=) c.1521G= (p.Gly507=) c.522G= (p.Gly174=) c.1407G= (p.Gly469=) c.1518G= (p.Gly506=) c.1506G= (p.Gly502=) | |
12 | g.112489085G>T | CA481882244 | PTPN11 | c.1509G>T (p.Gly503=) n.174G>T c.1395G>T (p.Gly465=) c.1224+6880G>T (n.1224+6880G>T) n.753G>T n.718G>T c.*55G>T (n.*55G>T) c.1521G>T (p.Gly507=) c.522G>T (p.Gly174=) c.1407G>T (p.Gly469=) c.1518G>T (p.Gly506=) c.1506G>T (p.Gly502=) | COSMIC |
12 | g.112489086A= | CA2063741050 | PTPN11 | c.1510A= (p.Met504=) n.175A= c.1396A= (p.Met466=) c.1224+6881A= (n.1224+6881A=) n.754A= n.719A= c.*56A= (n.*56A=) c.1522A= (p.Met508=) c.523A= (p.Met175=) c.1408A= (p.Met470=) c.1519A= (p.Met507=) c.1507A= (p.Met503=) | |
12 | g.112489086A>C | CA386779854 | PTPN11 | c.1510A>C (p.Met504Leu) n.175A>C c.1396A>C (p.Met466Leu) c.1224+6881A>C (n.1224+6881A>C) n.754A>C n.719A>C c.*56A>C (n.*56A>C) c.1522A>C (p.Met508Leu) c.523A>C (p.Met175Leu) c.1408A>C (p.Met470Leu) c.1519A>C (p.Met507Leu) c.1507A>C (p.Met503Leu) | |
12 | g.112489086A>G | CA220140 | PTPN11 | c.1510A>G (p.Met504Val) n.175A>G c.1396A>G (p.Met466Val) c.1224+6881A>G (n.1224+6881A>G) n.754A>G n.719A>G c.*56A>G (n.*56A>G) c.1522A>G (p.Met508Val) c.523A>G (p.Met175Val) c.1408A>G (p.Met470Val) c.1519A>G (p.Met507Val) c.1507A>G (p.Met503Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.112489086A>T | CA386779853 | PTPN11 | c.1510A>T (p.Met504Leu) n.175A>T c.1396A>T (p.Met466Leu) c.1224+6881A>T (n.1224+6881A>T) n.754A>T n.719A>T c.*56A>T (n.*56A>T) c.1522A>T (p.Met508Leu) c.523A>T (p.Met175Leu) c.1408A>T (p.Met470Leu) c.1519A>T (p.Met507Leu) c.1507A>T (p.Met503Leu) | |
12 | g.112489087T>A | CA386779856 | PTPN11 | c.1511T>A (p.Met504Lys) n.176T>A c.1397T>A (p.Met466Lys) c.1224+6882T>A (n.1224+6882T>A) n.755T>A n.720T>A c.*57T>A (n.*57T>A) c.1523T>A (p.Met508Lys) c.524T>A (p.Met175Lys) c.1409T>A (p.Met470Lys) c.1520T>A (p.Met507Lys) c.1508T>A (p.Met503Lys) | |
12 | g.112489087T>C | CA386779857 | PTPN11 | c.1511T>C (p.Met504Thr) n.176T>C c.1397T>C (p.Met466Thr) c.1224+6882T>C (n.1224+6882T>C) n.755T>C n.720T>C c.*57T>C (n.*57T>C) c.1523T>C (p.Met508Thr) c.524T>C (p.Met175Thr) c.1409T>C (p.Met470Thr) c.1520T>C (p.Met507Thr) c.1508T>C (p.Met503Thr) | dbSNP gnomAD v4 |
12 | g.112489087T>G | CA386779859 | PTPN11 | c.1511T>G (p.Met504Arg) n.176T>G c.1397T>G (p.Met466Arg) c.1224+6882T>G (n.1224+6882T>G) n.755T>G n.720T>G c.*57T>G (n.*57T>G) c.1523T>G (p.Met508Arg) c.524T>G (p.Met175Arg) c.1409T>G (p.Met470Arg) c.1520T>G (p.Met507Arg) c.1508T>G (p.Met503Arg) | |
12 | g.112489087T= | CA2063741055 | PTPN11 | c.1511T= (p.Met504=) n.176T= c.1397T= (p.Met466=) c.1224+6882T= (n.1224+6882T=) n.755T= n.720T= c.*57T= (n.*57T=) c.1523T= (p.Met508=) c.524T= (p.Met175=) c.1409T= (p.Met470=) c.1520T= (p.Met507=) c.1508T= (p.Met503=) | |
12 | g.112489088G>A | CA386779861 | PTPN11 | c.1512G>A (p.Met504Ile) n.177G>A c.1398G>A (p.Met466Ile) c.1224+6883G>A (n.1224+6883G>A) n.756G>A n.721G>A c.*58G>A (n.*58G>A) c.1524G>A (p.Met508Ile) c.525G>A (p.Met175Ile) c.1410G>A (p.Met470Ile) c.1521G>A (p.Met507Ile) c.1509G>A (p.Met503Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112489088G>C | CA386779862 | PTPN11 | c.1512G>C (p.Met504Ile) n.177G>C c.1398G>C (p.Met466Ile) c.1224+6883G>C (n.1224+6883G>C) n.756G>C n.721G>C c.*58G>C (n.*58G>C) c.1524G>C (p.Met508Ile) c.525G>C (p.Met175Ile) c.1410G>C (p.Met470Ile) c.1521G>C (p.Met507Ile) c.1509G>C (p.Met503Ile) | dbSNP |
12 | g.112489088G= | CA2063741057 | PTPN11 | c.1512G= (p.Met504=) n.177G= c.1398G= (p.Met466=) c.1224+6883G= (n.1224+6883G=) n.756G= n.721G= c.*58G= (n.*58G=) c.1524G= (p.Met508=) c.525G= (p.Met175=) c.1410G= (p.Met470=) c.1521G= (p.Met507=) c.1509G= (p.Met503=) | |
12 | g.112489088G>T | CA386779864 | PTPN11 | c.1512G>T (p.Met504Ile) n.177G>T c.1398G>T (p.Met466Ile) c.1224+6883G>T (n.1224+6883G>T) n.756G>T n.721G>T c.*58G>T (n.*58G>T) c.1524G>T (p.Met508Ile) c.525G>T (p.Met175Ile) c.1410G>T (p.Met470Ile) c.1521G>T (p.Met507Ile) c.1509G>T (p.Met503Ile) | dbSNP |
12 | g.112489089G>A | CA386779866 | PTPN11 | c.1513G>A (p.Val505Ile) n.178G>A c.1399G>A (p.Val467Ile) c.1224+6884G>A (n.1224+6884G>A) n.757G>A n.722G>A c.*59G>A (n.*59G>A) c.1525G>A (p.Val509Ile) c.526G>A (p.Val176Ile) c.1411G>A (p.Val471Ile) c.1522G>A (p.Val508Ile) c.1510G>A (p.Val504Ile) | dbSNP gnomAD v4 COSMIC |
12 | g.112489089G>C | CA386779868 | PTPN11 | c.1513G>C (p.Val505Leu) n.178G>C c.1399G>C (p.Val467Leu) c.1224+6884G>C (n.1224+6884G>C) n.757G>C n.722G>C c.*59G>C (n.*59G>C) c.1525G>C (p.Val509Leu) c.526G>C (p.Val176Leu) c.1411G>C (p.Val471Leu) c.1522G>C (p.Val508Leu) c.1510G>C (p.Val504Leu) | dbSNP |
12 | g.112489089G>T | CA386779869 | PTPN11 | c.1513G>T (p.Val505Phe) n.178G>T c.1399G>T (p.Val467Phe) c.1224+6884G>T (n.1224+6884G>T) n.757G>T n.722G>T c.*59G>T (n.*59G>T) c.1525G>T (p.Val509Phe) c.526G>T (p.Val176Phe) c.1411G>T (p.Val471Phe) c.1522G>T (p.Val508Phe) c.1510G>T (p.Val504Phe) | dbSNP |
12 | g.112489090T>A | CA386779874 | PTPN11 | c.1514T>A (p.Val505Asp) n.179T>A c.1400T>A (p.Val467Asp) c.1224+6885T>A (n.1224+6885T>A) n.758T>A n.723T>A c.*60T>A (n.*60T>A) c.1526T>A (p.Val509Asp) c.527T>A (p.Val176Asp) c.1412T>A (p.Val471Asp) c.1523T>A (p.Val508Asp) c.1511T>A (p.Val504Asp) | |
12 | g.112489090T>C | CA386779872 | PTPN11 | c.1514T>C (p.Val505Ala) n.179T>C c.1400T>C (p.Val467Ala) c.1224+6885T>C (n.1224+6885T>C) n.758T>C n.723T>C c.*60T>C (n.*60T>C) c.1526T>C (p.Val509Ala) c.527T>C (p.Val176Ala) c.1412T>C (p.Val471Ala) c.1523T>C (p.Val508Ala) c.1511T>C (p.Val504Ala) | |
12 | g.112489090T>G | CA386779871 | PTPN11 | c.1514T>G (p.Val505Gly) n.179T>G c.1400T>G (p.Val467Gly) c.1224+6885T>G (n.1224+6885T>G) n.758T>G n.723T>G c.*60T>G (n.*60T>G) c.1526T>G (p.Val509Gly) c.527T>G (p.Val176Gly) c.1412T>G (p.Val471Gly) c.1523T>G (p.Val508Gly) c.1511T>G (p.Val504Gly) | dbSNP |
12 | g.112489091C>A | CA481882263 | PTPN11 | c.1515C>A (p.Val505=) n.180C>A c.1401C>A (p.Val467=) c.1224+6886C>A (n.1224+6886C>A) n.759C>A n.724C>A c.*61C>A (n.*61C>A) c.1527C>A (p.Val509=) c.528C>A (p.Val176=) c.1413C>A (p.Val471=) c.1524C>A (p.Val508=) c.1512C>A (p.Val504=) | dbSNP |
12 | g.112489091C>G | CA481882264 | PTPN11 | c.1515C>G (p.Val505=) n.180C>G c.1401C>G (p.Val467=) c.1224+6886C>G (n.1224+6886C>G) n.759C>G n.724C>G c.*61C>G (n.*61C>G) c.1527C>G (p.Val509=) c.528C>G (p.Val176=) c.1413C>G (p.Val471=) c.1524C>G (p.Val508=) c.1512C>G (p.Val504=) | dbSNP |
12 | g.112489091C>T | CA481882265 | PTPN11 | c.1515C>T (p.Val505=) n.180C>T c.1401C>T (p.Val467=) c.1224+6886C>T (n.1224+6886C>T) n.759C>T n.724C>T c.*61C>T (n.*61C>T) c.1527C>T (p.Val509=) c.528C>T (p.Val176=) c.1413C>T (p.Val471=) c.1524C>T (p.Val508=) c.1512C>T (p.Val504=) | ClinVar dbSNP gnomAD v4 |
12 | g.112489092C>A | CA386779876 | PTPN11 | c.1516C>A (p.Gln506Lys) n.181C>A c.1402C>A (p.Gln468Lys) c.1224+6887C>A (n.1224+6887C>A) n.760C>A n.725C>A c.*62C>A (n.*62C>A) c.1528C>A (p.Gln510Lys) c.529C>A (p.Gln177Lys) c.1414C>A (p.Gln472Lys) c.1525C>A (p.Gln509Lys) c.1513C>A (p.Gln505Lys) | dbSNP |
12 | g.112489092C= | CA2063741062 | PTPN11 | c.1516C= (p.Gln506=) n.181C= c.1402C= (p.Gln468=) c.1224+6887C= (n.1224+6887C=) n.760C= n.725C= c.*62C= (n.*62C=) c.1528C= (p.Gln510=) c.529C= (p.Gln177=) c.1414C= (p.Gln472=) c.1525C= (p.Gln509=) c.1513C= (p.Gln505=) | |
12 | g.112489092C>G | CA386779877 | PTPN11 | c.1516C>G (p.Gln506Glu) n.181C>G c.1402C>G (p.Gln468Glu) c.1224+6887C>G (n.1224+6887C>G) n.760C>G n.725C>G c.*62C>G (n.*62C>G) c.1528C>G (p.Gln510Glu) c.529C>G (p.Gln177Glu) c.1414C>G (p.Gln472Glu) c.1525C>G (p.Gln509Glu) c.1513C>G (p.Gln505Glu) | dbSNP |
12 | g.112489092C>T | CA129800 | PTPN11 | c.1516C>T (p.Gln506Ter) n.181C>T c.1402C>T (p.Gln468Ter) c.1224+6887C>T (n.1224+6887C>T) n.760C>T n.725C>T c.*62C>T (n.*62C>T) c.1528C>T (p.Gln510Ter) c.529C>T (p.Gln177Ter) c.1414C>T (p.Gln472Ter) c.1525C>T (p.Gln509Ter) c.1513C>T (p.Gln505Ter) | ClinVar dbSNP |
12 | g.112489093A= | CA2063741072 | PTPN11 | c.1517A= (p.Gln506=) n.182A= c.1403A= (p.Gln468=) c.1224+6888A= (n.1224+6888A=) n.761A= n.726A= c.*63A= (n.*63A=) c.1529A= (p.Gln510=) c.530A= (p.Gln177=) c.1415A= (p.Gln472=) c.1526A= (p.Gln509=) c.1514A= (p.Gln505=) | |
12 | g.112489093A>C | CA235331 | PTPN11 | c.1517A>C (p.Gln506Pro) n.182A>C c.1403A>C (p.Gln468Pro) c.1224+6888A>C (n.1224+6888A>C) n.761A>C n.726A>C c.*63A>C (n.*63A>C) c.1529A>C (p.Gln510Pro) c.530A>C (p.Gln177Pro) c.1415A>C (p.Gln472Pro) c.1526A>C (p.Gln509Pro) c.1514A>C (p.Gln505Pro) | ClinVar dbSNP COSMIC |
12 | g.112489093A>G | CA386779881 | PTPN11 | c.1517A>G (p.Gln506Arg) n.182A>G c.1403A>G (p.Gln468Arg) c.1224+6888A>G (n.1224+6888A>G) n.761A>G n.726A>G c.*63A>G (n.*63A>G) c.1529A>G (p.Gln510Arg) c.530A>G (p.Gln177Arg) c.1415A>G (p.Gln472Arg) c.1526A>G (p.Gln509Arg) c.1514A>G (p.Gln505Arg) | |
12 | g.112489093A>T | CA386779882 | PTPN11 | c.1517A>T (p.Gln506Leu) n.182A>T c.1403A>T (p.Gln468Leu) c.1224+6888A>T (n.1224+6888A>T) n.761A>T n.726A>T c.*63A>T (n.*63A>T) c.1529A>T (p.Gln510Leu) c.530A>T (p.Gln177Leu) c.1415A>T (p.Gln472Leu) c.1526A>T (p.Gln509Leu) c.1514A>T (p.Gln505Leu) | dbSNP |
12 | g.112489093_112489094delinsAG | CA2063741078 | PTPN11 | c.1517_1518delinsAG (p.Gln506=) n.182_183delinsAG c.1403_1404delinsAG (p.Gln468=) c.1224+6888_1224+6889delinsAG (n.1224+6888_1224+6889delinsAG) n.761_762delinsAG n.726_727delinsAG c.*63_*64delinsAG (n.*63_*64delinsAG) c.1529_1530delinsAG (p.Gln510=) c.530_531delinsAG (p.Gln177=) c.1415_1416delinsAG (p.Gln472=) c.1526_1527delinsAG (p.Gln509=) c.1514_1515delinsAG (p.Gln505=) | |
12 | g.112489093_112489094delinsCC | CA284668 | PTPN11 | c.1517_1518delinsCC (p.Gln506Pro) n.182_183delinsCC c.1403_1404delinsCC (p.Gln468Pro) c.1224+6888_1224+6889delinsCC (n.1224+6888_1224+6889delinsCC) n.761_762delinsCC n.726_727delinsCC c.*63_*64delinsCC (n.*63_*64delinsCC) c.1529_1530delinsCC (p.Gln510Pro) c.530_531delinsCC (p.Gln177Pro) c.1415_1416delinsCC (p.Gln472Pro) c.1526_1527delinsCC (p.Gln509Pro) c.1514_1515delinsCC (p.Gln505Pro) | ClinVar dbSNP |
12 | g.112489094G>A | CA481882278 | PTPN11 | c.1518G>A (p.Gln506=) n.183G>A c.1404G>A (p.Gln468=) c.1224+6889G>A (n.1224+6889G>A) n.762G>A n.727G>A c.*64G>A (n.*64G>A) c.1530G>A (p.Gln510=) c.531G>A (p.Gln177=) c.1416G>A (p.Gln472=) c.1527G>A (p.Gln509=) c.1515G>A (p.Gln505=) | dbSNP |
12 | g.112489094G>C | CA386779884 | PTPN11 | c.1518G>C (p.Gln506His) n.183G>C c.1404G>C (p.Gln468His) c.1224+6889G>C (n.1224+6889G>C) n.762G>C n.727G>C c.*64G>C (n.*64G>C) c.1530G>C (p.Gln510His) c.531G>C (p.Gln177His) c.1416G>C (p.Gln472His) c.1527G>C (p.Gln509His) c.1515G>C (p.Gln505His) | dbSNP |
12 | g.112489094G>T | CA386779886 | PTPN11 | c.1518G>T (p.Gln506His) n.183G>T c.1404G>T (p.Gln468His) c.1224+6889G>T (n.1224+6889G>T) n.762G>T n.727G>T c.*64G>T (n.*64G>T) c.1530G>T (p.Gln510His) c.531G>T (p.Gln177His) c.1416G>T (p.Gln472His) c.1527G>T (p.Gln509His) c.1515G>T (p.Gln505His) | |
12 | g.112489095A>C | CA386779887 | PTPN11 | c.1519A>C (p.Thr507Pro) n.184A>C c.1405A>C (p.Thr469Pro) c.1224+6890A>C (n.1224+6890A>C) n.763A>C n.728A>C c.*65A>C (n.*65A>C) c.1531A>C (p.Thr511Pro) c.532A>C (p.Thr178Pro) c.1417A>C (p.Thr473Pro) c.1528A>C (p.Thr510Pro) c.1516A>C (p.Thr506Pro) | |
12 | g.112489095A>G | CA386779888 | PTPN11 | c.1519A>G (p.Thr507Ala) n.184A>G c.1405A>G (p.Thr469Ala) c.1224+6890A>G (n.1224+6890A>G) n.763A>G n.728A>G c.*65A>G (n.*65A>G) c.1531A>G (p.Thr511Ala) c.532A>G (p.Thr178Ala) c.1417A>G (p.Thr473Ala) c.1528A>G (p.Thr510Ala) c.1516A>G (p.Thr506Ala) | |
12 | g.112489095A>T | CA386779890 | PTPN11 | c.1519A>T (p.Thr507Ser) n.184A>T c.1405A>T (p.Thr469Ser) c.1224+6890A>T (n.1224+6890A>T) n.763A>T n.728A>T c.*65A>T (n.*65A>T) c.1531A>T (p.Thr511Ser) c.532A>T (p.Thr178Ser) c.1417A>T (p.Thr473Ser) c.1528A>T (p.Thr510Ser) c.1516A>T (p.Thr506Ser) | dbSNP |
12 | g.112489096C>A | CA10588540 | PTPN11 | c.1520C>A (p.Thr507Lys) n.185C>A c.1406C>A (p.Thr469Lys) c.1224+6891C>A (n.1224+6891C>A) n.764C>A n.729C>A c.*66C>A (n.*66C>A) c.1532C>A (p.Thr511Lys) c.533C>A (p.Thr178Lys) c.1418C>A (p.Thr473Lys) c.1529C>A (p.Thr510Lys) c.1517C>A (p.Thr506Lys) | ClinVar dbSNP COSMIC |
12 | g.112489096C= | CA2063741086 | PTPN11 | c.1520C= (p.Thr507=) n.185C= c.1406C= (p.Thr469=) c.1224+6891C= (n.1224+6891C=) n.764C= n.729C= c.*66C= (n.*66C=) c.1532C= (p.Thr511=) c.533C= (p.Thr178=) c.1418C= (p.Thr473=) c.1529C= (p.Thr510=) c.1517C= (p.Thr506=) | |
12 | g.112489096C>G | CA386779894 | PTPN11 | c.1520C>G (p.Thr507Arg) n.185C>G c.1406C>G (p.Thr469Arg) c.1224+6891C>G (n.1224+6891C>G) n.764C>G n.729C>G c.*66C>G (n.*66C>G) c.1532C>G (p.Thr511Arg) c.533C>G (p.Thr178Arg) c.1418C>G (p.Thr473Arg) c.1529C>G (p.Thr510Arg) c.1517C>G (p.Thr506Arg) | dbSNP |
12 | g.112489096C>T | CA386779892 | PTPN11 | c.1520C>T (p.Thr507Ile) n.185C>T c.1406C>T (p.Thr469Ile) c.1224+6891C>T (n.1224+6891C>T) n.764C>T n.729C>T c.*66C>T (n.*66C>T) c.1532C>T (p.Thr511Ile) c.533C>T (p.Thr178Ile) c.1418C>T (p.Thr473Ile) c.1529C>T (p.Thr510Ile) c.1517C>T (p.Thr506Ile) | dbSNP |
12 | g.112489097A= | CA2063741089 | PTPN11 | c.1521A= (p.Thr507=) n.186A= c.1407A= (p.Thr469=) c.1224+6892A= (n.1224+6892A=) n.765A= n.730A= c.*67A= (n.*67A=) c.1533A= (p.Thr511=) c.534A= (p.Thr178=) c.1419A= (p.Thr473=) c.1530A= (p.Thr510=) c.1518A= (p.Thr506=) | |
12 | g.112489097A>C | CA481882291 | PTPN11 | c.1521A>C (p.Thr507=) n.186A>C c.1407A>C (p.Thr469=) c.1224+6892A>C (n.1224+6892A>C) n.765A>C n.730A>C c.*67A>C (n.*67A>C) c.1533A>C (p.Thr511=) c.534A>C (p.Thr178=) c.1419A>C (p.Thr473=) c.1530A>C (p.Thr510=) c.1518A>C (p.Thr506=) | |
12 | g.112489097A>G | CA6798805 | PTPN11 | c.1521A>G (p.Thr507=) n.186A>G c.1407A>G (p.Thr469=) c.1224+6892A>G (n.1224+6892A>G) n.765A>G n.730A>G c.*67A>G (n.*67A>G) c.1533A>G (p.Thr511=) c.534A>G (p.Thr178=) c.1419A>G (p.Thr473=) c.1530A>G (p.Thr510=) c.1518A>G (p.Thr506=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112489097A>T | CA481882295 | PTPN11 | c.1521A>T (p.Thr507=) n.186A>T c.1407A>T (p.Thr469=) c.1224+6892A>T (n.1224+6892A>T) n.765A>T n.730A>T c.*67A>T (n.*67A>T) c.1533A>T (p.Thr511=) c.534A>T (p.Thr178=) c.1419A>T (p.Thr473=) c.1530A>T (p.Thr510=) c.1518A>T (p.Thr506=) | |
12 | g.112489098G>A | CA386779895 | PTPN11 | c.1522G>A (p.Glu508Lys) n.187G>A c.1408G>A (p.Glu470Lys) c.1224+6893G>A (n.1224+6893G>A) n.766G>A n.731G>A c.*68G>A (n.*68G>A) c.1534G>A (p.Glu512Lys) c.535G>A (p.Glu179Lys) c.1420G>A (p.Glu474Lys) c.1531G>A (p.Glu511Lys) c.1519G>A (p.Glu507Lys) | dbSNP |
12 | g.112489098G>C | CA386779896 | PTPN11 | c.1522G>C (p.Glu508Gln) n.187G>C c.1408G>C (p.Glu470Gln) c.1224+6893G>C (n.1224+6893G>C) n.766G>C n.731G>C c.*68G>C (n.*68G>C) c.1534G>C (p.Glu512Gln) c.535G>C (p.Glu179Gln) c.1420G>C (p.Glu474Gln) c.1531G>C (p.Glu511Gln) c.1519G>C (p.Glu507Gln) | dbSNP |
12 | g.112489098G= | CA2063741093 | PTPN11 | c.1522G= (p.Glu508=) n.187G= c.1408G= (p.Glu470=) c.1224+6893G= (n.1224+6893G=) n.766G= n.731G= c.*68G= (n.*68G=) c.1534G= (p.Glu512=) c.535G= (p.Glu179=) c.1420G= (p.Glu474=) c.1531G= (p.Glu511=) c.1519G= (p.Glu507=) | |
12 | g.112489098G>T | CA386779898 | PTPN11 | c.1522G>T (p.Glu508Ter) n.187G>T c.1408G>T (p.Glu470Ter) c.1224+6893G>T (n.1224+6893G>T) n.766G>T n.731G>T c.*68G>T (n.*68G>T) c.1534G>T (p.Glu512Ter) c.535G>T (p.Glu179Ter) c.1420G>T (p.Glu474Ter) c.1531G>T (p.Glu511Ter) c.1519G>T (p.Glu507Ter) | |
12 | g.112489099A>C | CA386779899 | PTPN11 | c.1523A>C (p.Glu508Ala) n.188A>C c.1409A>C (p.Glu470Ala) c.1224+6894A>C (n.1224+6894A>C) n.767A>C n.732A>C c.*69A>C (n.*69A>C) c.1535A>C (p.Glu512Ala) c.536A>C (p.Glu179Ala) c.1421A>C (p.Glu474Ala) c.1532A>C (p.Glu511Ala) c.1520A>C (p.Glu507Ala) | |
12 | g.112489099A>G | CA386779900 | PTPN11 | c.1523A>G (p.Glu508Gly) n.188A>G c.1409A>G (p.Glu470Gly) c.1224+6894A>G (n.1224+6894A>G) n.767A>G n.732A>G c.*69A>G (n.*69A>G) c.1535A>G (p.Glu512Gly) c.536A>G (p.Glu179Gly) c.1421A>G (p.Glu474Gly) c.1532A>G (p.Glu511Gly) c.1520A>G (p.Glu507Gly) | |
12 | g.112489099A>T | CA386779902 | PTPN11 | c.1523A>T (p.Glu508Val) n.188A>T c.1409A>T (p.Glu470Val) c.1224+6894A>T (n.1224+6894A>T) n.767A>T n.732A>T c.*69A>T (n.*69A>T) c.1535A>T (p.Glu512Val) c.536A>T (p.Glu179Val) c.1421A>T (p.Glu474Val) c.1532A>T (p.Glu511Val) c.1520A>T (p.Glu507Val) | dbSNP |
12 | g.112489100A>C | CA386779904 | PTPN11 | c.1524A>C (p.Glu508Asp) n.189A>C c.1410A>C (p.Glu470Asp) c.1224+6895A>C (n.1224+6895A>C) n.768A>C n.733A>C c.*70A>C (n.*70A>C) c.1536A>C (p.Glu512Asp) c.537A>C (p.Glu179Asp) c.1422A>C (p.Glu474Asp) c.1533A>C (p.Glu511Asp) c.1521A>C (p.Glu507Asp) | |
12 | g.112489100A>G | CA481882310 | PTPN11 | c.1524A>G (p.Glu508=) n.189A>G c.1410A>G (p.Glu470=) c.1224+6895A>G (n.1224+6895A>G) n.768A>G n.733A>G c.*70A>G (n.*70A>G) c.1536A>G (p.Glu512=) c.537A>G (p.Glu179=) c.1422A>G (p.Glu474=) c.1533A>G (p.Glu511=) c.1521A>G (p.Glu507=) | |
12 | g.112489100A>T | CA386779905 | PTPN11 | c.1524A>T (p.Glu508Asp) n.189A>T c.1410A>T (p.Glu470Asp) c.1224+6895A>T (n.1224+6895A>T) n.768A>T n.733A>T c.*70A>T (n.*70A>T) c.1536A>T (p.Glu512Asp) c.537A>T (p.Glu179Asp) c.1422A>T (p.Glu474Asp) c.1533A>T (p.Glu511Asp) c.1521A>T (p.Glu507Asp) | |
12 | g.112489101G>A | CA386779907 | PTPN11 | c.1525G>A (p.Ala509Thr) n.190G>A c.1411G>A (p.Ala471Thr) c.1224+6896G>A (n.1224+6896G>A) n.769G>A n.734G>A c.*71G>A (n.*71G>A) c.1537G>A (p.Ala513Thr) c.538G>A (p.Ala180Thr) c.1423G>A (p.Ala475Thr) c.1534G>A (p.Ala512Thr) c.1522G>A (p.Ala508Thr) | dbSNP |
12 | g.112489101G>C | CA386779908 | PTPN11 | c.1525G>C (p.Ala509Pro) n.190G>C c.1411G>C (p.Ala471Pro) c.1224+6896G>C (n.1224+6896G>C) n.769G>C n.734G>C c.*71G>C (n.*71G>C) c.1537G>C (p.Ala513Pro) c.538G>C (p.Ala180Pro) c.1423G>C (p.Ala475Pro) c.1534G>C (p.Ala512Pro) c.1522G>C (p.Ala508Pro) | dbSNP |
12 | g.112489101G>T | CA386779910 | PTPN11 | c.1525G>T (p.Ala509Ser) n.190G>T c.1411G>T (p.Ala471Ser) c.1224+6896G>T (n.1224+6896G>T) n.769G>T n.734G>T c.*71G>T (n.*71G>T) c.1537G>T (p.Ala513Ser) c.538G>T (p.Ala180Ser) c.1423G>T (p.Ala475Ser) c.1534G>T (p.Ala512Ser) c.1522G>T (p.Ala508Ser) | |
12 | g.112489102C>A | CA386779912 | PTPN11 | c.1526C>A (p.Ala509Glu) n.191C>A c.1412C>A (p.Ala471Glu) c.1224+6897C>A (n.1224+6897C>A) n.770C>A n.735C>A c.*72C>A (n.*72C>A) c.1538C>A (p.Ala513Glu) c.539C>A (p.Ala180Glu) c.1424C>A (p.Ala475Glu) c.1535C>A (p.Ala512Glu) c.1523C>A (p.Ala508Glu) | dbSNP |
12 | g.112489102C>G | CA386779914 | PTPN11 | c.1526C>G (p.Ala509Gly) n.191C>G c.1412C>G (p.Ala471Gly) c.1224+6897C>G (n.1224+6897C>G) n.770C>G n.735C>G c.*72C>G (n.*72C>G) c.1538C>G (p.Ala513Gly) c.539C>G (p.Ala180Gly) c.1424C>G (p.Ala475Gly) c.1535C>G (p.Ala512Gly) c.1523C>G (p.Ala508Gly) | dbSNP |
12 | g.112489102C>T | CA386779911 | PTPN11 | c.1526C>T (p.Ala509Val) n.191C>T c.1412C>T (p.Ala471Val) c.1224+6897C>T (n.1224+6897C>T) n.770C>T n.735C>T c.*72C>T (n.*72C>T) c.1538C>T (p.Ala513Val) c.539C>T (p.Ala180Val) c.1424C>T (p.Ala475Val) c.1535C>T (p.Ala512Val) c.1523C>T (p.Ala508Val) | dbSNP |
12 | g.112489103A>C | CA481882331 | PTPN11 | c.1527A>C (p.Ala509=) n.192A>C c.1413A>C (p.Ala471=) c.1224+6898A>C (n.1224+6898A>C) n.771A>C n.736A>C c.*73A>C (n.*73A>C) c.1539A>C (p.Ala513=) c.540A>C (p.Ala180=) c.1425A>C (p.Ala475=) c.1536A>C (p.Ala512=) c.1524A>C (p.Ala508=) | |
12 | g.112489103A>G | CA481882329 | PTPN11 | c.1527A>G (p.Ala509=) n.192A>G c.1413A>G (p.Ala471=) c.1224+6898A>G (n.1224+6898A>G) n.771A>G n.736A>G c.*73A>G (n.*73A>G) c.1539A>G (p.Ala513=) c.540A>G (p.Ala180=) c.1425A>G (p.Ala475=) c.1536A>G (p.Ala512=) c.1524A>G (p.Ala508=) | |
12 | g.112489103A>T | CA481882327 | PTPN11 | c.1527A>T (p.Ala509=) n.192A>T c.1413A>T (p.Ala471=) c.1224+6898A>T (n.1224+6898A>T) n.771A>T n.736A>T c.*73A>T (n.*73A>T) c.1539A>T (p.Ala513=) c.540A>T (p.Ala180=) c.1425A>T (p.Ala475=) c.1536A>T (p.Ala512=) c.1524A>T (p.Ala508=) | dbSNP COSMIC |
12 | g.112489104C>A | CA282135 | PTPN11 | c.1528C>A (p.Gln510Lys) n.193C>A c.1414C>A (p.Gln472Lys) c.1224+6899C>A (n.1224+6899C>A) n.772C>A n.737C>A c.*74C>A (n.*74C>A) c.1540C>A (p.Gln514Lys) c.541C>A (p.Gln181Lys) c.1426C>A (p.Gln476Lys) c.1537C>A (p.Gln513Lys) c.1525C>A (p.Gln509Lys) | dbSNP COSMIC |
12 | g.112489104C= | CA2063741105 | PTPN11 | c.1528C= (p.Gln510=) n.193C= c.1414C= (p.Gln472=) c.1224+6899C= (n.1224+6899C=) n.772C= n.737C= c.*74C= (n.*74C=) c.1540C= (p.Gln514=) c.541C= (p.Gln181=) c.1426C= (p.Gln476=) c.1537C= (p.Gln513=) c.1525C= (p.Gln509=) | |
12 | g.112489104C>G | CA273420 | PTPN11 | c.1528C>G (p.Gln510Glu) n.193C>G c.1414C>G (p.Gln472Glu) c.1224+6899C>G (n.1224+6899C>G) n.772C>G n.737C>G c.*74C>G (n.*74C>G) c.1540C>G (p.Gln514Glu) c.541C>G (p.Gln181Glu) c.1426C>G (p.Gln476Glu) c.1537C>G (p.Gln513Glu) c.1525C>G (p.Gln509Glu) | ClinVar dbSNP COSMIC |
12 | g.112489104C>T | CA386779917 | PTPN11 | c.1528C>T (p.Gln510Ter) n.193C>T c.1414C>T (p.Gln472Ter) c.1224+6899C>T (n.1224+6899C>T) n.772C>T n.737C>T c.*74C>T (n.*74C>T) c.1540C>T (p.Gln514Ter) c.541C>T (p.Gln181Ter) c.1426C>T (p.Gln476Ter) c.1537C>T (p.Gln513Ter) c.1525C>T (p.Gln509Ter) | dbSNP |
12 | g.112489105A= | CA2063741122 | PTPN11 | c.1529A= (p.Gln510=) n.194A= c.1415A= (p.Gln472=) c.1224+6900A= (n.1224+6900A=) n.773A= n.738A= c.*75A= (n.*75A=) c.1541A= (p.Gln514=) c.542A= (p.Gln181=) c.1427A= (p.Gln476=) c.1538A= (p.Gln513=) c.1526A= (p.Gln509=) | |
12 | g.112489105A>C | CA256758 | PTPN11 | c.1529A>C (p.Gln510Pro) n.194A>C c.1415A>C (p.Gln472Pro) c.1224+6900A>C (n.1224+6900A>C) n.773A>C n.738A>C c.*75A>C (n.*75A>C) c.1541A>C (p.Gln514Pro) c.542A>C (p.Gln181Pro) c.1427A>C (p.Gln476Pro) c.1538A>C (p.Gln513Pro) c.1526A>C (p.Gln509Pro) | ClinVar dbSNP |
12 | g.112489105A>G | CA256761 | PTPN11 | c.1529A>G (p.Gln510Arg) n.194A>G c.1415A>G (p.Gln472Arg) c.1224+6900A>G (n.1224+6900A>G) n.773A>G n.738A>G c.*75A>G (n.*75A>G) c.1541A>G (p.Gln514Arg) c.542A>G (p.Gln181Arg) c.1427A>G (p.Gln476Arg) c.1538A>G (p.Gln513Arg) c.1526A>G (p.Gln509Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112489105A>T | CA386779920 | PTPN11 | c.1529A>T (p.Gln510Leu) n.194A>T c.1415A>T (p.Gln472Leu) c.1224+6900A>T (n.1224+6900A>T) n.773A>T n.738A>T c.*75A>T (n.*75A>T) c.1541A>T (p.Gln514Leu) c.542A>T (p.Gln181Leu) c.1427A>T (p.Gln476Leu) c.1538A>T (p.Gln513Leu) c.1526A>T (p.Gln509Leu) | ClinVar dbSNP COSMIC |
12 | g.112489105_112489106delinsTT | CA645586232 | PTPN11 | c.1529_1530delinsTT (p.Gln510Leu) n.194_195delinsTT c.1415_1416delinsTT (p.Gln472Leu) c.1224+6900_1224+6901delinsTT (n.1224+6900_1224+6901delinsTT) n.773_774delinsTT n.738_739delinsTT c.*75_*76delinsTT (n.*75_*76delinsTT) c.1541_1542delinsTT (p.Gln514Leu) c.542_543delinsTT (p.Gln181Leu) c.1427_1428delinsTT (p.Gln476Leu) c.1538_1539delinsTT (p.Gln513Leu) c.1526_1527delinsTT (p.Gln509Leu) | COSMIC |
12 | g.112489106G>A | CA481882342 | PTPN11 | c.1530G>A (p.Gln510=) n.195G>A c.1416G>A (p.Gln472=) c.1224+6901G>A (n.1224+6901G>A) n.774G>A n.739G>A c.*76G>A (n.*76G>A) c.1542G>A (p.Gln514=) c.543G>A (p.Gln181=) c.1428G>A (p.Gln476=) c.1539G>A (p.Gln513=) c.1527G>A (p.Gln509=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112489106G>C | CA220143 | PTPN11 | c.1530G>C (p.Gln510His) n.195G>C c.1416G>C (p.Gln472His) c.1224+6901G>C (n.1224+6901G>C) n.774G>C n.739G>C c.*76G>C (n.*76G>C) c.1542G>C (p.Gln514His) c.543G>C (p.Gln181His) c.1428G>C (p.Gln476His) c.1539G>C (p.Gln513His) c.1527G>C (p.Gln509His) | ClinVar dbSNP COSMIC |
12 | g.112489106G= | CA2063741132 | PTPN11 | c.1530G= (p.Gln510=) n.195G= c.1416G= (p.Gln472=) c.1224+6901G= (n.1224+6901G=) n.774G= n.739G= c.*76G= (n.*76G=) c.1542G= (p.Gln514=) c.543G= (p.Gln181=) c.1428G= (p.Gln476=) c.1539G= (p.Gln513=) c.1527G= (p.Gln509=) | |
12 | g.112489106G>T | CA386779921 | PTPN11 | c.1530G>T (p.Gln510His) n.195G>T c.1416G>T (p.Gln472His) c.1224+6901G>T (n.1224+6901G>T) n.774G>T n.739G>T c.*76G>T (n.*76G>T) c.1542G>T (p.Gln514His) c.543G>T (p.Gln181His) c.1428G>T (p.Gln476His) c.1539G>T (p.Gln513His) c.1527G>T (p.Gln509His) | ClinVar dbSNP COSMIC |
12 | g.112489107T>A | CA386779923 | PTPN11 | c.1531T>A (p.Tyr511Asn) n.196T>A c.1417T>A (p.Tyr473Asn) c.1224+6902T>A (n.1224+6902T>A) n.775T>A n.740T>A c.*77T>A (n.*77T>A) c.1543T>A (p.Tyr515Asn) c.544T>A (p.Tyr182Asn) c.1429T>A (p.Tyr477Asn) c.1540T>A (p.Tyr514Asn) c.1528T>A (p.Tyr510Asn) | dbSNP |
12 | g.112489107T>C | CA386779924 | PTPN11 | c.1531T>C (p.Tyr511His) n.196T>C c.1417T>C (p.Tyr473His) c.1224+6902T>C (n.1224+6902T>C) n.775T>C n.740T>C c.*77T>C (n.*77T>C) c.1543T>C (p.Tyr515His) c.544T>C (p.Tyr182His) c.1429T>C (p.Tyr477His) c.1540T>C (p.Tyr514His) c.1528T>C (p.Tyr510His) | |
12 | g.112489107T>G | CA386779925 | PTPN11 | c.1531T>G (p.Tyr511Asp) n.196T>G c.1417T>G (p.Tyr473Asp) c.1224+6902T>G (n.1224+6902T>G) n.775T>G n.740T>G c.*77T>G (n.*77T>G) c.1543T>G (p.Tyr515Asp) c.544T>G (p.Tyr182Asp) c.1429T>G (p.Tyr477Asp) c.1540T>G (p.Tyr514Asp) c.1528T>G (p.Tyr510Asp) | dbSNP |
12 | g.112489108A>C | CA386779926 | PTPN11 | c.1532A>C (p.Tyr511Ser) n.197A>C c.1418A>C (p.Tyr473Ser) c.1224+6903A>C (n.1224+6903A>C) n.776A>C n.741A>C c.*78A>C (n.*78A>C) c.1544A>C (p.Tyr515Ser) c.545A>C (p.Tyr182Ser) c.1430A>C (p.Tyr477Ser) c.1541A>C (p.Tyr514Ser) c.1529A>C (p.Tyr510Ser) | |
12 | g.112489108A>G | CA386779927 | PTPN11 | c.1532A>G (p.Tyr511Cys) n.197A>G c.1418A>G (p.Tyr473Cys) c.1224+6903A>G (n.1224+6903A>G) n.776A>G n.741A>G c.*78A>G (n.*78A>G) c.1544A>G (p.Tyr515Cys) c.545A>G (p.Tyr182Cys) c.1430A>G (p.Tyr477Cys) c.1541A>G (p.Tyr514Cys) c.1529A>G (p.Tyr510Cys) | dbSNP |
12 | g.112489108A>T | CA386779929 | PTPN11 | c.1532A>T (p.Tyr511Phe) n.197A>T c.1418A>T (p.Tyr473Phe) c.1224+6903A>T (n.1224+6903A>T) n.776A>T n.741A>T c.*78A>T (n.*78A>T) c.1544A>T (p.Tyr515Phe) c.545A>T (p.Tyr182Phe) c.1430A>T (p.Tyr477Phe) c.1541A>T (p.Tyr514Phe) c.1529A>T (p.Tyr510Phe) | dbSNP |
12 | g.112489109C>A | CA386779933 | PTPN11 | c.1533C>A (p.Tyr511Ter) n.198C>A c.1419C>A (p.Tyr473Ter) c.1224+6904C>A (n.1224+6904C>A) n.777C>A n.742C>A c.*79C>A (n.*79C>A) c.1545C>A (p.Tyr515Ter) c.546C>A (p.Tyr182Ter) c.1431C>A (p.Tyr477Ter) c.1542C>A (p.Tyr514Ter) c.1530C>A (p.Tyr510Ter) | dbSNP |
12 | g.112489109C= | CA2063741141 | PTPN11 | c.1533C= (p.Tyr511=) n.198C= c.1419C= (p.Tyr473=) c.1224+6904C= (n.1224+6904C=) n.777C= n.742C= c.*79C= (n.*79C=) c.1545C= (p.Tyr515=) c.546C= (p.Tyr182=) c.1431C= (p.Tyr477=) c.1542C= (p.Tyr514=) c.1530C= (p.Tyr510=) | |
12 | g.112489109C>G | CA386779931 | PTPN11 | c.1533C>G (p.Tyr511Ter) n.198C>G c.1419C>G (p.Tyr473Ter) c.1224+6904C>G (n.1224+6904C>G) n.777C>G n.742C>G c.*79C>G (n.*79C>G) c.1545C>G (p.Tyr515Ter) c.546C>G (p.Tyr182Ter) c.1431C>G (p.Tyr477Ter) c.1542C>G (p.Tyr514Ter) c.1530C>G (p.Tyr510Ter) | dbSNP |
12 | g.112489109C>T | CA6798806 | PTPN11 | c.1533C>T (p.Tyr511=) n.198C>T c.1419C>T (p.Tyr473=) c.1224+6904C>T (n.1224+6904C>T) n.777C>T n.742C>T c.*79C>T (n.*79C>T) c.1545C>T (p.Tyr515=) c.546C>T (p.Tyr182=) c.1431C>T (p.Tyr477=) c.1542C>T (p.Tyr514=) c.1530C>T (p.Tyr510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112489110C>A | CA481882357 | PTPN11 | c.1534C>A (p.Arg512=) n.199C>A c.1420C>A (p.Arg474=) c.1224+6905C>A (n.1224+6905C>A) n.778C>A n.743C>A c.*80C>A (n.*80C>A) c.1546C>A (p.Arg516=) c.547C>A (p.Arg183=) c.1432C>A (p.Arg478=) c.1543C>A (p.Arg515=) c.1531C>A (p.Arg511=) | dbSNP |
12 | g.112489110C>G | CA386779934 | PTPN11 | c.1534C>G (p.Arg512Gly) n.199C>G c.1420C>G (p.Arg474Gly) c.1224+6905C>G (n.1224+6905C>G) n.778C>G n.743C>G c.*80C>G (n.*80C>G) c.1546C>G (p.Arg516Gly) c.547C>G (p.Arg183Gly) c.1432C>G (p.Arg478Gly) c.1543C>G (p.Arg515Gly) c.1531C>G (p.Arg511Gly) | dbSNP |
12 | g.112489110C>T | CA386779936 | PTPN11 | c.1534C>T (p.Arg512Ter) n.199C>T c.1420C>T (p.Arg474Ter) c.1224+6905C>T (n.1224+6905C>T) n.778C>T n.743C>T c.*80C>T (n.*80C>T) c.1546C>T (p.Arg516Ter) c.547C>T (p.Arg183Ter) c.1432C>T (p.Arg478Ter) c.1543C>T (p.Arg515Ter) c.1531C>T (p.Arg511Ter) | ClinVar dbSNP COSMIC |
12 | g.112489111G>A | CA386779938 | PTPN11 | c.1535G>A (p.Arg512Gln) n.200G>A c.1421G>A (p.Arg474Gln) c.1224+6906G>A (n.1224+6906G>A) n.779G>A n.744G>A c.*81G>A (n.*81G>A) c.1547G>A (p.Arg516Gln) c.548G>A (p.Arg183Gln) c.1433G>A (p.Arg478Gln) c.1544G>A (p.Arg515Gln) c.1532G>A (p.Arg511Gln) | dbSNP COSMIC |
12 | g.112489111G>C | CA386779939 | PTPN11 | c.1535G>C (p.Arg512Pro) n.200G>C c.1421G>C (p.Arg474Pro) c.1224+6906G>C (n.1224+6906G>C) n.779G>C n.744G>C c.*81G>C (n.*81G>C) c.1547G>C (p.Arg516Pro) c.548G>C (p.Arg183Pro) c.1433G>C (p.Arg478Pro) c.1544G>C (p.Arg515Pro) c.1532G>C (p.Arg511Pro) | dbSNP |
12 | g.112489111G>T | CA386779941 | PTPN11 | c.1535G>T (p.Arg512Leu) n.200G>T c.1421G>T (p.Arg474Leu) c.1224+6906G>T (n.1224+6906G>T) n.779G>T n.744G>T c.*81G>T (n.*81G>T) c.1547G>T (p.Arg516Leu) c.548G>T (p.Arg183Leu) c.1433G>T (p.Arg478Leu) c.1544G>T (p.Arg515Leu) c.1532G>T (p.Arg511Leu) | |
12 | g.112489112A>C | CA481882363 | PTPN11 | c.1536A>C (p.Arg512=) n.201A>C c.1422A>C (p.Arg474=) c.1224+6907A>C (n.1224+6907A>C) n.780A>C n.745A>C c.*82A>C (n.*82A>C) c.1548A>C (p.Arg516=) c.549A>C (p.Arg183=) c.1434A>C (p.Arg478=) c.1545A>C (p.Arg515=) c.1533A>C (p.Arg511=) | |
12 | g.112489112A>G | CA481882366 | PTPN11 | c.1536A>G (p.Arg512=) n.201A>G c.1422A>G (p.Arg474=) c.1224+6907A>G (n.1224+6907A>G) n.780A>G n.745A>G c.*82A>G (n.*82A>G) c.1548A>G (p.Arg516=) c.549A>G (p.Arg183=) c.1434A>G (p.Arg478=) c.1545A>G (p.Arg515=) c.1533A>G (p.Arg511=) | |
12 | g.112489112A>T | CA481882367 | PTPN11 | c.1536A>T (p.Arg512=) n.201A>T c.1422A>T (p.Arg474=) c.1224+6907A>T (n.1224+6907A>T) n.780A>T n.745A>T c.*82A>T (n.*82A>T) c.1548A>T (p.Arg516=) c.549A>T (p.Arg183=) c.1434A>T (p.Arg478=) c.1545A>T (p.Arg515=) c.1533A>T (p.Arg511=) | dbSNP |
12 | g.112489113T>A | CA386779943 | PTPN11 | c.1537T>A (p.Phe513Ile) n.202T>A c.1423T>A (p.Phe475Ile) c.1224+6908T>A (n.1224+6908T>A) n.781T>A n.746T>A c.*83T>A (n.*83T>A) c.1549T>A (p.Phe517Ile) c.550T>A (p.Phe184Ile) c.1435T>A (p.Phe479Ile) c.1546T>A (p.Phe516Ile) c.1534T>A (p.Phe512Ile) | dbSNP |
12 | g.112489113T>C | CA386779945 | PTPN11 | c.1537T>C (p.Phe513Leu) n.202T>C c.1423T>C (p.Phe475Leu) c.1224+6908T>C (n.1224+6908T>C) n.781T>C n.746T>C c.*83T>C (n.*83T>C) c.1549T>C (p.Phe517Leu) c.550T>C (p.Phe184Leu) c.1435T>C (p.Phe479Leu) c.1546T>C (p.Phe516Leu) c.1534T>C (p.Phe512Leu) | |
12 | g.112489113T>G | CA386779947 | PTPN11 | c.1537T>G (p.Phe513Val) n.202T>G c.1423T>G (p.Phe475Val) c.1224+6908T>G (n.1224+6908T>G) n.781T>G n.746T>G c.*83T>G (n.*83T>G) c.1549T>G (p.Phe517Val) c.550T>G (p.Phe184Val) c.1435T>G (p.Phe479Val) c.1546T>G (p.Phe516Val) c.1534T>G (p.Phe512Val) | dbSNP |
12 | g.112489114T>A | CA386779948 | PTPN11 | c.1538T>A (p.Phe513Tyr) n.203T>A c.1424T>A (p.Phe475Tyr) c.1224+6909T>A (n.1224+6909T>A) n.782T>A n.747T>A c.*84T>A (n.*84T>A) c.1550T>A (p.Phe517Tyr) c.551T>A (p.Phe184Tyr) c.1436T>A (p.Phe479Tyr) c.1547T>A (p.Phe516Tyr) c.1535T>A (p.Phe512Tyr) | |
12 | g.112489114T>C | CA386779951 | PTPN11 | c.1538T>C (p.Phe513Ser) n.203T>C c.1424T>C (p.Phe475Ser) c.1224+6909T>C (n.1224+6909T>C) n.782T>C n.747T>C c.*84T>C (n.*84T>C) c.1550T>C (p.Phe517Ser) c.551T>C (p.Phe184Ser) c.1436T>C (p.Phe479Ser) c.1547T>C (p.Phe516Ser) c.1535T>C (p.Phe512Ser) | |
12 | g.112489114T>G | CA386779949 | PTPN11 | c.1538T>G (p.Phe513Cys) n.203T>G c.1424T>G (p.Phe475Cys) c.1224+6909T>G (n.1224+6909T>G) n.782T>G n.747T>G c.*84T>G (n.*84T>G) c.1550T>G (p.Phe517Cys) c.551T>G (p.Phe184Cys) c.1436T>G (p.Phe479Cys) c.1547T>G (p.Phe516Cys) c.1535T>G (p.Phe512Cys) | dbSNP |
12 | g.112489115T>A | CA386779953 | PTPN11 | c.1539T>A (p.Phe513Leu) n.204T>A c.1425T>A (p.Phe475Leu) c.1224+6910T>A (n.1224+6910T>A) n.783T>A n.748T>A c.*85T>A (n.*85T>A) c.1551T>A (p.Phe517Leu) c.552T>A (p.Phe184Leu) c.1437T>A (p.Phe479Leu) c.1548T>A (p.Phe516Leu) c.1536T>A (p.Phe512Leu) | dbSNP |
12 | g.112489115T>C | CA481882378 | PTPN11 | c.1539T>C (p.Phe513=) n.204T>C c.1425T>C (p.Phe475=) c.1224+6910T>C (n.1224+6910T>C) n.783T>C n.748T>C c.*85T>C (n.*85T>C) c.1551T>C (p.Phe517=) c.552T>C (p.Phe184=) c.1437T>C (p.Phe479=) c.1548T>C (p.Phe516=) c.1536T>C (p.Phe512=) | |
12 | g.112489115T>G | CA386779955 | PTPN11 | c.1539T>G (p.Phe513Leu) n.204T>G c.1425T>G (p.Phe475Leu) c.1224+6910T>G (n.1224+6910T>G) n.783T>G n.748T>G c.*85T>G (n.*85T>G) c.1551T>G (p.Phe517Leu) c.552T>G (p.Phe184Leu) c.1437T>G (p.Phe479Leu) c.1548T>G (p.Phe516Leu) c.1536T>G (p.Phe512Leu) | |
12 | g.112489122_112489123insCTATCTATA | CA2580085827 | PTPN11 | c.1546_1547insCTATCTATA (p.Tyr515_Met516insThrIleTyr) n.211_212insCTATCTATA c.1432_1433insCTATCTATA (p.Tyr477_Met478insThrIleTyr) c.1224+6917_1224+6918insCTATCTATA (n.1224+6917_1224+6918insCTATCTATA) n.790_791insCTATCTATA n.755_756insCTATCTATA c.*92_*93insCTATCTATA (n.*92_*93insCTATCTATA) c.1558_1559insCTATCTATA (p.Tyr519_Met520insThrIleTyr) c.559_560insCTATCTATA (p.Tyr186_Met187insThrIleTyr) c.1444_1445insCTATCTATA (p.Tyr481_Met482insThrIleTyr) c.1555_1556insCTATCTATA (p.Tyr518_Met519insThrIleTyr) c.1543_1544insCTATCTATA (p.Tyr514_Met515insThrIleTyr) | ClinVar |
12 | g.112489116A>C | CA386779957 | PTPN11 | c.1540A>C (p.Ile514Leu) n.205A>C c.1426A>C (p.Ile476Leu) c.1224+6911A>C (n.1224+6911A>C) n.784A>C n.749A>C c.*86A>C (n.*86A>C) c.1552A>C (p.Ile518Leu) c.553A>C (p.Ile185Leu) c.1438A>C (p.Ile480Leu) c.1549A>C (p.Ile517Leu) c.1537A>C (p.Ile513Leu) | |
12 | g.112489116A>G | CA386779958 | PTPN11 | c.1540A>G (p.Ile514Val) n.205A>G c.1426A>G (p.Ile476Val) c.1224+6911A>G (n.1224+6911A>G) n.784A>G n.749A>G c.*86A>G (n.*86A>G) c.1552A>G (p.Ile518Val) c.553A>G (p.Ile185Val) c.1438A>G (p.Ile480Val) c.1549A>G (p.Ile517Val) c.1537A>G (p.Ile513Val) | ClinVar |
12 | g.112489116A>T | CA386779960 | PTPN11 | c.1540A>T (p.Ile514Phe) n.205A>T c.1426A>T (p.Ile476Phe) c.1224+6911A>T (n.1224+6911A>T) n.784A>T n.749A>T c.*86A>T (n.*86A>T) c.1552A>T (p.Ile518Phe) c.553A>T (p.Ile185Phe) c.1438A>T (p.Ile480Phe) c.1549A>T (p.Ile517Phe) c.1537A>T (p.Ile513Phe) | dbSNP |
12 | g.112489117T>A | CA386779962 | PTPN11 | c.1541T>A (p.Ile514Asn) n.206T>A c.1427T>A (p.Ile476Asn) c.1224+6912T>A (n.1224+6912T>A) n.785T>A n.750T>A c.*87T>A (n.*87T>A) c.1553T>A (p.Ile518Asn) c.554T>A (p.Ile185Asn) c.1439T>A (p.Ile480Asn) c.1550T>A (p.Ile517Asn) c.1538T>A (p.Ile513Asn) | |
12 | g.112489117T>C | CA386779965 | PTPN11 | c.1541T>C (p.Ile514Thr) n.206T>C c.1427T>C (p.Ile476Thr) c.1224+6912T>C (n.1224+6912T>C) n.785T>C n.750T>C c.*87T>C (n.*87T>C) c.1553T>C (p.Ile518Thr) c.554T>C (p.Ile185Thr) c.1439T>C (p.Ile480Thr) c.1550T>C (p.Ile517Thr) c.1538T>C (p.Ile513Thr) | |
12 | g.112489117T>G | CA386779963 | PTPN11 | c.1541T>G (p.Ile514Ser) n.206T>G c.1427T>G (p.Ile476Ser) c.1224+6912T>G (n.1224+6912T>G) n.785T>G n.750T>G c.*87T>G (n.*87T>G) c.1553T>G (p.Ile518Ser) c.554T>G (p.Ile185Ser) c.1439T>G (p.Ile480Ser) c.1550T>G (p.Ile517Ser) c.1538T>G (p.Ile513Ser) | |
12 | g.112489118C>A | CA481882388 | PTPN11 | c.1542C>A (p.Ile514=) n.207C>A c.1428C>A (p.Ile476=) c.1224+6913C>A (n.1224+6913C>A) n.786C>A n.751C>A c.*88C>A (n.*88C>A) c.1554C>A (p.Ile518=) c.555C>A (p.Ile185=) c.1440C>A (p.Ile480=) c.1551C>A (p.Ile517=) c.1539C>A (p.Ile513=) | |
12 | g.112489118C>G | CA386779967 | PTPN11 | c.1542C>G (p.Ile514Met) n.207C>G c.1428C>G (p.Ile476Met) c.1224+6913C>G (n.1224+6913C>G) n.786C>G n.751C>G c.*88C>G (n.*88C>G) c.1554C>G (p.Ile518Met) c.555C>G (p.Ile185Met) c.1440C>G (p.Ile480Met) c.1551C>G (p.Ile517Met) c.1539C>G (p.Ile513Met) | |
12 | g.112489118C>T | CA481882387 | PTPN11 | c.1542C>T (p.Ile514=) n.207C>T c.1428C>T (p.Ile476=) c.1224+6913C>T (n.1224+6913C>T) n.786C>T n.751C>T c.*88C>T (n.*88C>T) c.1554C>T (p.Ile518=) c.555C>T (p.Ile185=) c.1440C>T (p.Ile480=) c.1551C>T (p.Ile517=) c.1539C>T (p.Ile513=) | COSMIC |
12 | g.112489119T>A | CA386779968 | PTPN11 | c.1543T>A (p.Tyr515Asn) n.208T>A c.1429T>A (p.Tyr477Asn) c.1224+6914T>A (n.1224+6914T>A) n.787T>A n.752T>A c.*89T>A (n.*89T>A) c.1555T>A (p.Tyr519Asn) c.556T>A (p.Tyr186Asn) c.1441T>A (p.Tyr481Asn) c.1552T>A (p.Tyr518Asn) c.1540T>A (p.Tyr514Asn) | dbSNP |
12 | g.112489119T>C | CA386779970 | PTPN11 | c.1543T>C (p.Tyr515His) n.208T>C c.1429T>C (p.Tyr477His) c.1224+6914T>C (n.1224+6914T>C) n.787T>C n.752T>C c.*89T>C (n.*89T>C) c.1555T>C (p.Tyr519His) c.556T>C (p.Tyr186His) c.1441T>C (p.Tyr481His) c.1552T>C (p.Tyr518His) c.1540T>C (p.Tyr514His) | |
12 | g.112489119T>G | CA386779972 | PTPN11 | c.1543T>G (p.Tyr515Asp) n.208T>G c.1429T>G (p.Tyr477Asp) c.1224+6914T>G (n.1224+6914T>G) n.787T>G n.752T>G c.*89T>G (n.*89T>G) c.1555T>G (p.Tyr519Asp) c.556T>G (p.Tyr186Asp) c.1441T>G (p.Tyr481Asp) c.1552T>G (p.Tyr518Asp) c.1540T>G (p.Tyr514Asp) | |
12 | g.112489120A>C | CA386779974 | PTPN11 | c.1544A>C (p.Tyr515Ser) n.209A>C c.1430A>C (p.Tyr477Ser) c.1224+6915A>C (n.1224+6915A>C) n.788A>C n.753A>C c.*90A>C (n.*90A>C) c.1556A>C (p.Tyr519Ser) c.557A>C (p.Tyr186Ser) c.1442A>C (p.Tyr481Ser) c.1553A>C (p.Tyr518Ser) c.1541A>C (p.Tyr514Ser) | |
12 | g.112489120A>G | CA386779975 | PTPN11 | c.1544A>G (p.Tyr515Cys) n.209A>G c.1430A>G (p.Tyr477Cys) c.1224+6915A>G (n.1224+6915A>G) n.788A>G n.753A>G c.*90A>G (n.*90A>G) c.1556A>G (p.Tyr519Cys) c.557A>G (p.Tyr186Cys) c.1442A>G (p.Tyr481Cys) c.1553A>G (p.Tyr518Cys) c.1541A>G (p.Tyr514Cys) | |
12 | g.112489120A>T | CA386779976 | PTPN11 | c.1544A>T (p.Tyr515Phe) n.209A>T c.1430A>T (p.Tyr477Phe) c.1224+6915A>T (n.1224+6915A>T) n.788A>T n.753A>T c.*90A>T (n.*90A>T) c.1556A>T (p.Tyr519Phe) c.557A>T (p.Tyr186Phe) c.1442A>T (p.Tyr481Phe) c.1553A>T (p.Tyr518Phe) c.1541A>T (p.Tyr514Phe) | dbSNP |
12 | g.112489121T>A | CA386779977 | PTPN11 | c.1545T>A (p.Tyr515Ter) n.210T>A c.1431T>A (p.Tyr477Ter) c.1224+6916T>A (n.1224+6916T>A) n.789T>A n.754T>A c.*91T>A (n.*91T>A) c.1557T>A (p.Tyr519Ter) c.558T>A (p.Tyr186Ter) c.1443T>A (p.Tyr481Ter) c.1554T>A (p.Tyr518Ter) c.1542T>A (p.Tyr514Ter) | dbSNP |
12 | g.112489121T>C | CA481882399 | PTPN11 | c.1545T>C (p.Tyr515=) n.210T>C c.1431T>C (p.Tyr477=) c.1224+6916T>C (n.1224+6916T>C) n.789T>C n.754T>C c.*91T>C (n.*91T>C) c.1557T>C (p.Tyr519=) c.558T>C (p.Tyr186=) c.1443T>C (p.Tyr481=) c.1554T>C (p.Tyr518=) c.1542T>C (p.Tyr514=) | |
12 | g.112489121T>G | CA386779978 | PTPN11 | c.1545T>G (p.Tyr515Ter) n.210T>G c.1431T>G (p.Tyr477Ter) c.1224+6916T>G (n.1224+6916T>G) n.789T>G n.754T>G c.*91T>G (n.*91T>G) c.1557T>G (p.Tyr519Ter) c.558T>G (p.Tyr186Ter) c.1443T>G (p.Tyr481Ter) c.1554T>G (p.Tyr518Ter) c.1542T>G (p.Tyr514Ter) | |
12 | g.112489122A= | CA2063741145 | PTPN11 | c.1546A= (p.Met516=) n.211A= c.1432A= (p.Met478=) c.1224+6917A= (n.1224+6917A=) n.790A= n.755A= c.*92A= (n.*92A=) c.1558A= (p.Met520=) c.559A= (p.Met187=) c.1444A= (p.Met482=) c.1555A= (p.Met519=) c.1543A= (p.Met515=) | |
12 | g.112489122A>C | CA386779980 | PTPN11 | c.1546A>C (p.Met516Leu) n.211A>C c.1432A>C (p.Met478Leu) c.1224+6917A>C (n.1224+6917A>C) n.790A>C n.755A>C c.*92A>C (n.*92A>C) c.1558A>C (p.Met520Leu) c.559A>C (p.Met187Leu) c.1444A>C (p.Met482Leu) c.1555A>C (p.Met519Leu) c.1543A>C (p.Met515Leu) | |
12 | g.112489122A>G | CA6798807 | PTPN11 | c.1546A>G (p.Met516Val) n.211A>G c.1432A>G (p.Met478Val) c.1224+6917A>G (n.1224+6917A>G) n.790A>G n.755A>G c.*92A>G (n.*92A>G) c.1558A>G (p.Met520Val) c.559A>G (p.Met187Val) c.1444A>G (p.Met482Val) c.1555A>G (p.Met519Val) c.1543A>G (p.Met515Val) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.112489122A>T | CA386779982 | PTPN11 | c.1546A>T (p.Met516Leu) n.211A>T c.1432A>T (p.Met478Leu) c.1224+6917A>T (n.1224+6917A>T) n.790A>T n.755A>T c.*92A>T (n.*92A>T) c.1558A>T (p.Met520Leu) c.559A>T (p.Met187Leu) c.1444A>T (p.Met482Leu) c.1555A>T (p.Met519Leu) c.1543A>T (p.Met515Leu) | dbSNP |
12 | g.112489123T>A | CA386779984 | PTPN11 | c.1547T>A (p.Met516Lys) n.212T>A c.1433T>A (p.Met478Lys) c.1224+6918T>A (n.1224+6918T>A) n.791T>A n.756T>A c.*93T>A (n.*93T>A) c.1559T>A (p.Met520Lys) c.560T>A (p.Met187Lys) c.1445T>A (p.Met482Lys) c.1556T>A (p.Met519Lys) c.1544T>A (p.Met515Lys) | |
12 | g.112489123T>C | CA243714583 | PTPN11 | c.1547T>C (p.Met516Thr) n.212T>C c.1433T>C (p.Met478Thr) c.1224+6918T>C (n.1224+6918T>C) n.791T>C n.756T>C c.*93T>C (n.*93T>C) c.1559T>C (p.Met520Thr) c.560T>C (p.Met187Thr) c.1445T>C (p.Met482Thr) c.1556T>C (p.Met519Thr) c.1544T>C (p.Met515Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.112489123T>G | CA386779985 | PTPN11 | c.1547T>G (p.Met516Arg) n.212T>G c.1433T>G (p.Met478Arg) c.1224+6918T>G (n.1224+6918T>G) n.791T>G n.756T>G c.*93T>G (n.*93T>G) c.1559T>G (p.Met520Arg) c.560T>G (p.Met187Arg) c.1445T>G (p.Met482Arg) c.1556T>G (p.Met519Arg) c.1544T>G (p.Met515Arg) | |
12 | g.112489123T= | CA2063741160 | PTPN11 | c.1547T= (p.Met516=) n.212T= c.1433T= (p.Met478=) c.1224+6918T= (n.1224+6918T=) n.791T= n.756T= c.*93T= (n.*93T=) c.1559T= (p.Met520=) c.560T= (p.Met187=) c.1445T= (p.Met482=) c.1556T= (p.Met519=) c.1544T= (p.Met515=) | |
12 | g.112489124G>A | CA386779988 | PTPN11 | c.1548G>A (p.Met516Ile) n.213G>A c.1434G>A (p.Met478Ile) c.1224+6919G>A (n.1224+6919G>A) n.792G>A n.757G>A c.*94G>A (n.*94G>A) c.1560G>A (p.Met520Ile) c.561G>A (p.Met187Ile) c.1446G>A (p.Met482Ile) c.1557G>A (p.Met519Ile) c.1545G>A (p.Met515Ile) | dbSNP |
12 | g.112489124G>C | CA386779989 | PTPN11 | c.1548G>C (p.Met516Ile) n.213G>C c.1434G>C (p.Met478Ile) c.1224+6919G>C (n.1224+6919G>C) n.792G>C n.757G>C c.*94G>C (n.*94G>C) c.1560G>C (p.Met520Ile) c.561G>C (p.Met187Ile) c.1446G>C (p.Met482Ile) c.1557G>C (p.Met519Ile) c.1545G>C (p.Met515Ile) | |
12 | g.112489124G>T | CA386779990 | PTPN11 | c.1548G>T (p.Met516Ile) n.213G>T c.1434G>T (p.Met478Ile) c.1224+6919G>T (n.1224+6919G>T) n.792G>T n.757G>T c.*94G>T (n.*94G>T) c.1560G>T (p.Met520Ile) c.561G>T (p.Met187Ile) c.1446G>T (p.Met482Ile) c.1557G>T (p.Met519Ile) c.1545G>T (p.Met515Ile) | |
12 | g.112489125del | CA2727242093 | PTPN11 | c.1549del (p.Ala517ArgfsTer?) n.214del c.1435del (p.Ala479ArgfsTer?) c.1224+6920del (n.1224+6920del) n.793del n.758del c.*95del (n.*95del) c.1561del (p.Ala521ArgfsTer?) c.562del (p.Ala188ArgfsTer?) c.1447del (p.Ala483ArgfsTer?) c.1558del (p.Ala520ArgfsTer?) c.1546del (p.Ala516ArgfsTer?) | dbSNP |
12 | g.112489125G>A | CA386779991 | PTPN11 | c.1549G>A (p.Ala517Thr) n.214G>A c.1435G>A (p.Ala479Thr) c.1224+6920G>A (n.1224+6920G>A) n.793G>A n.758G>A c.*95G>A (n.*95G>A) c.1561G>A (p.Ala521Thr) c.562G>A (p.Ala188Thr) c.1447G>A (p.Ala483Thr) c.1558G>A (p.Ala520Thr) c.1546G>A (p.Ala516Thr) | dbSNP |
12 | g.112489125G>C | CA386779992 | PTPN11 | c.1549G>C (p.Ala517Pro) n.214G>C c.1435G>C (p.Ala479Pro) c.1224+6920G>C (n.1224+6920G>C) n.793G>C n.758G>C c.*95G>C (n.*95G>C) c.1561G>C (p.Ala521Pro) c.562G>C (p.Ala188Pro) c.1447G>C (p.Ala483Pro) c.1558G>C (p.Ala520Pro) c.1546G>C (p.Ala516Pro) | dbSNP |
12 | g.112489125G>T | CA386779994 | PTPN11 | c.1549G>T (p.Ala517Ser) n.214G>T c.1435G>T (p.Ala479Ser) c.1224+6920G>T (n.1224+6920G>T) n.793G>T n.758G>T c.*95G>T (n.*95G>T) c.1561G>T (p.Ala521Ser) c.562G>T (p.Ala188Ser) c.1447G>T (p.Ala483Ser) c.1558G>T (p.Ala520Ser) c.1546G>T (p.Ala516Ser) | dbSNP |
12 | g.112489126C>A | CA386779995 | PTPN11 | c.1550C>A (p.Ala517Glu) n.215C>A c.1436C>A (p.Ala479Glu) c.1224+6921C>A (n.1224+6921C>A) n.794C>A n.759C>A c.*96C>A (n.*96C>A) c.1562C>A (p.Ala521Glu) c.563C>A (p.Ala188Glu) c.1448C>A (p.Ala483Glu) c.1559C>A (p.Ala520Glu) c.1547C>A (p.Ala516Glu) | dbSNP |
12 | g.112489126C>G | CA386779996 | PTPN11 | c.1550C>G (p.Ala517Gly) n.215C>G c.1436C>G (p.Ala479Gly) c.1224+6921C>G (n.1224+6921C>G) n.794C>G n.759C>G c.*96C>G (n.*96C>G) c.1562C>G (p.Ala521Gly) c.563C>G (p.Ala188Gly) c.1448C>G (p.Ala483Gly) c.1559C>G (p.Ala520Gly) c.1547C>G (p.Ala516Gly) | dbSNP |
12 | g.112489126C>T | CA386779997 | PTPN11 | c.1550C>T (p.Ala517Val) n.215C>T c.1436C>T (p.Ala479Val) c.1224+6921C>T (n.1224+6921C>T) n.794C>T n.759C>T c.*96C>T (n.*96C>T) c.1562C>T (p.Ala521Val) c.563C>T (p.Ala188Val) c.1448C>T (p.Ala483Val) c.1559C>T (p.Ala520Val) c.1547C>T (p.Ala516Val) | dbSNP |
12 | g.112489127G>A | CA180923 | PTPN11 | c.1551G>A (p.Ala517=) n.216G>A c.1437G>A (p.Ala479=) c.1224+6922G>A (n.1224+6922G>A) n.795G>A n.760G>A c.*97G>A (n.*97G>A) c.1563G>A (p.Ala521=) c.564G>A (p.Ala188=) c.1449G>A (p.Ala483=) c.1560G>A (p.Ala520=) c.1548G>A (p.Ala516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112489127G>C | CA481882413 | PTPN11 | c.1551G>C (p.Ala517=) n.216G>C c.1437G>C (p.Ala479=) c.1224+6922G>C (n.1224+6922G>C) n.795G>C n.760G>C c.*97G>C (n.*97G>C) c.1563G>C (p.Ala521=) c.564G>C (p.Ala188=) c.1449G>C (p.Ala483=) c.1560G>C (p.Ala520=) c.1548G>C (p.Ala516=) | dbSNP |
12 | g.112489127G= | CA2063741169 | PTPN11 | c.1551G= (p.Ala517=) n.216G= c.1437G= (p.Ala479=) c.1224+6922G= (n.1224+6922G=) n.795G= n.760G= c.*97G= (n.*97G=) c.1563G= (p.Ala521=) c.564G= (p.Ala188=) c.1449G= (p.Ala483=) c.1560G= (p.Ala520=) c.1548G= (p.Ala516=) | |
12 | g.112489127G>T | CA481882416 | PTPN11 | c.1551G>T (p.Ala517=) n.216G>T c.1437G>T (p.Ala479=) c.1224+6922G>T (n.1224+6922G>T) n.795G>T n.760G>T c.*97G>T (n.*97G>T) c.1563G>T (p.Ala521=) c.564G>T (p.Ala188=) c.1449G>T (p.Ala483=) c.1560G>T (p.Ala520=) c.1548G>T (p.Ala516=) | COSMIC |
12 | g.112489128G>A | CA386779998 | PTPN11 | c.1552G>A (p.Val518Ile) n.217G>A c.1438G>A (p.Val480Ile) c.1224+6923G>A (n.1224+6923G>A) n.796G>A n.761G>A c.*98G>A (n.*98G>A) c.1564G>A (p.Val522Ile) c.565G>A (p.Val189Ile) c.1450G>A (p.Val484Ile) c.1561G>A (p.Val521Ile) c.1549G>A (p.Val517Ile) | dbSNP |
12 | g.112489128G>C | CA386779999 | PTPN11 | c.1552G>C (p.Val518Leu) n.217G>C c.1438G>C (p.Val480Leu) c.1224+6923G>C (n.1224+6923G>C) n.796G>C n.761G>C c.*98G>C (n.*98G>C) c.1564G>C (p.Val522Leu) c.565G>C (p.Val189Leu) c.1450G>C (p.Val484Leu) c.1561G>C (p.Val521Leu) c.1549G>C (p.Val517Leu) | dbSNP gnomAD v4 |
12 | g.112489128G= | CA2063741174 | PTPN11 | c.1552G= (p.Val518=) n.217G= c.1438G= (p.Val480=) c.1224+6923G= (n.1224+6923G=) n.796G= n.761G= c.*98G= (n.*98G=) c.1564G= (p.Val522=) c.565G= (p.Val189=) c.1450G= (p.Val484=) c.1561G= (p.Val521=) c.1549G= (p.Val517=) | |
12 | g.112489128G>T | CA386780000 | PTPN11 | c.1552G>T (p.Val518Phe) n.217G>T c.1438G>T (p.Val480Phe) c.1224+6923G>T (n.1224+6923G>T) n.796G>T n.761G>T c.*98G>T (n.*98G>T) c.1564G>T (p.Val522Phe) c.565G>T (p.Val189Phe) c.1450G>T (p.Val484Phe) c.1561G>T (p.Val521Phe) c.1549G>T (p.Val517Phe) | ClinVar dbSNP |
12 | g.112489129T>A | CA386780003 | PTPN11 | c.1553T>A (p.Val518Asp) n.218T>A c.1439T>A (p.Val480Asp) c.1224+6924T>A (n.1224+6924T>A) n.797T>A n.762T>A c.*99T>A (n.*99T>A) c.1565T>A (p.Val522Asp) c.566T>A (p.Val189Asp) c.1451T>A (p.Val484Asp) c.1562T>A (p.Val521Asp) c.1550T>A (p.Val517Asp) | |
12 | g.112489129T>C | CA386780001 | PTPN11 | c.1553T>C (p.Val518Ala) n.218T>C c.1439T>C (p.Val480Ala) c.1224+6924T>C (n.1224+6924T>C) n.797T>C n.762T>C c.*99T>C (n.*99T>C) c.1565T>C (p.Val522Ala) c.566T>C (p.Val189Ala) c.1451T>C (p.Val484Ala) c.1562T>C (p.Val521Ala) c.1550T>C (p.Val517Ala) | |
12 | g.112489129T>G | CA386780002 | PTPN11 | c.1553T>G (p.Val518Gly) n.218T>G c.1439T>G (p.Val480Gly) c.1224+6924T>G (n.1224+6924T>G) n.797T>G n.762T>G c.*99T>G (n.*99T>G) c.1565T>G (p.Val522Gly) c.566T>G (p.Val189Gly) c.1451T>G (p.Val484Gly) c.1562T>G (p.Val521Gly) c.1550T>G (p.Val517Gly) | ClinVar dbSNP |
12 | g.112489129T= | CA2063741178 | PTPN11 | c.1553T= (p.Val518=) n.218T= c.1439T= (p.Val480=) c.1224+6924T= (n.1224+6924T=) n.797T= n.762T= c.*99T= (n.*99T=) c.1565T= (p.Val522=) c.566T= (p.Val189=) c.1451T= (p.Val484=) c.1562T= (p.Val521=) c.1550T= (p.Val517=) | |
12 | g.112489130C>A | CA481882420 | PTPN11 | c.1554C>A (p.Val518=) n.219C>A c.1440C>A (p.Val480=) c.1224+6925C>A (n.1224+6925C>A) n.798C>A n.763C>A c.*100C>A (n.*100C>A) c.1566C>A (p.Val522=) c.567C>A (p.Val189=) c.1452C>A (p.Val484=) c.1563C>A (p.Val521=) c.1551C>A (p.Val517=) | dbSNP |
12 | g.112489130C>G | CA481882422 | PTPN11 | c.1554C>G (p.Val518=) n.219C>G c.1440C>G (p.Val480=) c.1224+6925C>G (n.1224+6925C>G) n.798C>G n.763C>G c.*100C>G (n.*100C>G) c.1566C>G (p.Val522=) c.567C>G (p.Val189=) c.1452C>G (p.Val484=) c.1563C>G (p.Val521=) c.1551C>G (p.Val517=) | dbSNP |
12 | g.112489130C>T | CA481882421 | PTPN11 | c.1554C>T (p.Val518=) n.219C>T c.1440C>T (p.Val480=) c.1224+6925C>T (n.1224+6925C>T) n.798C>T n.763C>T c.*100C>T (n.*100C>T) c.1566C>T (p.Val522=) c.567C>T (p.Val189=) c.1452C>T (p.Val484=) c.1563C>T (p.Val521=) c.1551C>T (p.Val517=) | |
12 | g.112489131C>A | CA386780005 | PTPN11 | c.1555C>A (p.Gln519Lys) n.220C>A c.1441C>A (p.Gln481Lys) c.1224+6926C>A (n.1224+6926C>A) n.799C>A n.764C>A c.*101C>A (n.*101C>A) c.1567C>A (p.Gln523Lys) c.568C>A (p.Gln190Lys) c.1453C>A (p.Gln485Lys) c.1564C>A (p.Gln522Lys) c.1552C>A (p.Gln518Lys) | |
12 | g.112489131C>G | CA386780007 | PTPN11 | c.1555C>G (p.Gln519Glu) n.220C>G c.1441C>G (p.Gln481Glu) c.1224+6926C>G (n.1224+6926C>G) n.799C>G n.764C>G c.*101C>G (n.*101C>G) c.1567C>G (p.Gln523Glu) c.568C>G (p.Gln190Glu) c.1453C>G (p.Gln485Glu) c.1564C>G (p.Gln522Glu) c.1552C>G (p.Gln518Glu) | dbSNP |
12 | g.112489131C>T | CA386780008 | PTPN11 | c.1555C>T (p.Gln519Ter) n.220C>T c.1441C>T (p.Gln481Ter) c.1224+6926C>T (n.1224+6926C>T) n.799C>T n.764C>T c.*101C>T (n.*101C>T) c.1567C>T (p.Gln523Ter) c.568C>T (p.Gln190Ter) c.1453C>T (p.Gln485Ter) c.1564C>T (p.Gln522Ter) c.1552C>T (p.Gln518Ter) | dbSNP |
12 | g.112489132A>C | CA386780009 | PTPN11 | c.1556A>C (p.Gln519Pro) n.221A>C c.1442A>C (p.Gln481Pro) c.1224+6927A>C (n.1224+6927A>C) n.800A>C n.765A>C c.*102A>C (n.*102A>C) c.1568A>C (p.Gln523Pro) c.569A>C (p.Gln190Pro) c.1454A>C (p.Gln485Pro) c.1565A>C (p.Gln522Pro) c.1553A>C (p.Gln518Pro) | |
12 | g.112489132A>G | CA386780010 | PTPN11 | c.1556A>G (p.Gln519Arg) n.221A>G c.1442A>G (p.Gln481Arg) c.1224+6927A>G (n.1224+6927A>G) n.800A>G n.765A>G c.*102A>G (n.*102A>G) c.1568A>G (p.Gln523Arg) c.569A>G (p.Gln190Arg) c.1454A>G (p.Gln485Arg) c.1565A>G (p.Gln522Arg) c.1553A>G (p.Gln518Arg) | gnomAD v4 |
12 | g.112489132A>T | CA386780012 | PTPN11 | c.1556A>T (p.Gln519Leu) n.221A>T c.1442A>T (p.Gln481Leu) c.1224+6927A>T (n.1224+6927A>T) n.800A>T n.765A>T c.*102A>T (n.*102A>T) c.1568A>T (p.Gln523Leu) c.569A>T (p.Gln190Leu) c.1454A>T (p.Gln485Leu) c.1565A>T (p.Gln522Leu) c.1553A>T (p.Gln518Leu) | dbSNP |
12 | g.112489133G>A | CA481882424 | PTPN11 | c.1557G>A (p.Gln519=) n.222G>A c.1443G>A (p.Gln481=) c.1224+6928G>A (n.1224+6928G>A) n.801G>A n.766G>A c.*103G>A (n.*103G>A) c.1569G>A (p.Gln523=) c.570G>A (p.Gln190=) c.1455G>A (p.Gln485=) c.1566G>A (p.Gln522=) c.1554G>A (p.Gln518=) | dbSNP gnomAD v4 |
12 | g.112489133G>C | CA386780013 | PTPN11 | c.1557G>C (p.Gln519His) n.222G>C c.1443G>C (p.Gln481His) c.1224+6928G>C (n.1224+6928G>C) n.801G>C n.766G>C c.*103G>C (n.*103G>C) c.1569G>C (p.Gln523His) c.570G>C (p.Gln190His) c.1455G>C (p.Gln485His) c.1566G>C (p.Gln522His) c.1554G>C (p.Gln518His) | dbSNP |
12 | g.112489133G>T | CA386780014 | PTPN11 | c.1557G>T (p.Gln519His) n.222G>T c.1443G>T (p.Gln481His) c.1224+6928G>T (n.1224+6928G>T) n.801G>T n.766G>T c.*103G>T (n.*103G>T) c.1569G>T (p.Gln523His) c.570G>T (p.Gln190His) c.1455G>T (p.Gln485His) c.1566G>T (p.Gln522His) c.1554G>T (p.Gln518His) | |
12 | g.112489134C>A | CA386780016 | PTPN11 | c.1558C>A (p.His520Asn) n.223C>A c.1444C>A (p.His482Asn) c.1224+6929C>A (n.1224+6929C>A) n.802C>A n.767C>A c.*104C>A (n.*104C>A) c.1570C>A (p.His524Asn) c.571C>A (p.His191Asn) c.1456C>A (p.His486Asn) c.1567C>A (p.His523Asn) c.1555C>A (p.His519Asn) | |
12 | g.112489134C>G | CA386780017 | PTPN11 | c.1558C>G (p.His520Asp) n.223C>G c.1444C>G (p.His482Asp) c.1224+6929C>G (n.1224+6929C>G) n.802C>G n.767C>G c.*104C>G (n.*104C>G) c.1570C>G (p.His524Asp) c.571C>G (p.His191Asp) c.1456C>G (p.His486Asp) c.1567C>G (p.His523Asp) c.1555C>G (p.His519Asp) | dbSNP gnomAD v4 |
12 | g.112489134C>T | CA386780018 | PTPN11 | c.1558C>T (p.His520Tyr) n.223C>T c.1444C>T (p.His482Tyr) c.1224+6929C>T (n.1224+6929C>T) n.802C>T n.767C>T c.*104C>T (n.*104C>T) c.1570C>T (p.His524Tyr) c.571C>T (p.His191Tyr) c.1456C>T (p.His486Tyr) c.1567C>T (p.His523Tyr) c.1555C>T (p.His519Tyr) | dbSNP |
12 | g.112489135A>C | CA386780019 | PTPN11 | c.1559A>C (p.His520Pro) n.224A>C c.1445A>C (p.His482Pro) c.1224+6930A>C (n.1224+6930A>C) n.803A>C n.768A>C c.*105A>C (n.*105A>C) c.1571A>C (p.His524Pro) c.572A>C (p.His191Pro) c.1457A>C (p.His486Pro) c.1568A>C (p.His523Pro) c.1556A>C (p.His519Pro) | |
12 | g.112489135A>G | CA386780021 | PTPN11 | c.1559A>G (p.His520Arg) n.224A>G c.1445A>G (p.His482Arg) c.1224+6930A>G (n.1224+6930A>G) n.803A>G n.768A>G c.*105A>G (n.*105A>G) c.1571A>G (p.His524Arg) c.572A>G (p.His191Arg) c.1457A>G (p.His486Arg) c.1568A>G (p.His523Arg) c.1556A>G (p.His519Arg) | |
12 | g.112489135A>T | CA386780020 | PTPN11 | c.1559A>T (p.His520Leu) n.224A>T c.1445A>T (p.His482Leu) c.1224+6930A>T (n.1224+6930A>T) n.803A>T n.768A>T c.*105A>T (n.*105A>T) c.1571A>T (p.His524Leu) c.572A>T (p.His191Leu) c.1457A>T (p.His486Leu) c.1568A>T (p.His523Leu) c.1556A>T (p.His519Leu) | |
12 | g.112489136T>A | CA386780022 | PTPN11 | c.1560T>A (p.His520Gln) n.225T>A c.1446T>A (p.His482Gln) c.1224+6931T>A (n.1224+6931T>A) n.804T>A n.769T>A c.*106T>A (n.*106T>A) c.1572T>A (p.His524Gln) c.573T>A (p.His191Gln) c.1458T>A (p.His486Gln) c.1569T>A (p.His523Gln) c.1557T>A (p.His519Gln) | |
12 | g.112489136T>C | CA481882432 | PTPN11 | c.1560T>C (p.His520=) n.225T>C c.1446T>C (p.His482=) c.1224+6931T>C (n.1224+6931T>C) n.804T>C n.769T>C c.*106T>C (n.*106T>C) c.1572T>C (p.His524=) c.573T>C (p.His191=) c.1458T>C (p.His486=) c.1569T>C (p.His523=) c.1557T>C (p.His519=) | |
12 | g.112489136T>G | CA386780024 | PTPN11 | c.1560T>G (p.His520Gln) n.225T>G c.1446T>G (p.His482Gln) c.1224+6931T>G (n.1224+6931T>G) n.804T>G n.769T>G c.*106T>G (n.*106T>G) c.1572T>G (p.His524Gln) c.573T>G (p.His191Gln) c.1458T>G (p.His486Gln) c.1569T>G (p.His523Gln) c.1557T>G (p.His519Gln) | |
12 | g.112489137del | CA2621026745 | PTPN11 | c.1561del (p.Tyr521IlefsTer29) c.1561del (p.Tyr521IlefsTer?) n.226del c.1447del (p.Tyr483IlefsTer29) c.1224+6932del (n.1224+6932del) n.805del n.770del c.*107del (n.*107del) c.1573del (p.Tyr525IlefsTer29) c.574del (p.Tyr192IlefsTer?) c.1459del (p.Tyr487IlefsTer29) c.1570del (p.Tyr524IlefsTer29) c.1558del (p.Tyr520IlefsTer29) | gnomAD v4 |
12 | g.112489137T>A | CA386780026 | PTPN11 | c.1561T>A (p.Tyr521Asn) n.226T>A c.1447T>A (p.Tyr483Asn) c.1224+6932T>A (n.1224+6932T>A) n.805T>A n.770T>A c.*107T>A (n.*107T>A) c.1573T>A (p.Tyr525Asn) c.574T>A (p.Tyr192Asn) c.1459T>A (p.Tyr487Asn) c.1570T>A (p.Tyr524Asn) c.1558T>A (p.Tyr520Asn) | |
12 | g.112489137T>C | CA386780028 | PTPN11 | c.1561T>C (p.Tyr521His) n.226T>C c.1447T>C (p.Tyr483His) c.1224+6932T>C (n.1224+6932T>C) n.805T>C n.770T>C c.*107T>C (n.*107T>C) c.1573T>C (p.Tyr525His) c.574T>C (p.Tyr192His) c.1459T>C (p.Tyr487His) c.1570T>C (p.Tyr524His) c.1558T>C (p.Tyr520His) | |
12 | g.112489137T>G | CA386780029 | PTPN11 | c.1561T>G (p.Tyr521Asp) n.226T>G c.1447T>G (p.Tyr483Asp) c.1224+6932T>G (n.1224+6932T>G) n.805T>G n.770T>G c.*107T>G (n.*107T>G) c.1573T>G (p.Tyr525Asp) c.574T>G (p.Tyr192Asp) c.1459T>G (p.Tyr487Asp) c.1570T>G (p.Tyr524Asp) c.1558T>G (p.Tyr520Asp) | |
12 | g.112489138A>C | CA386780031 | PTPN11 | c.1562A>C (p.Tyr521Ser) n.227A>C c.1448A>C (p.Tyr483Ser) c.1224+6933A>C (n.1224+6933A>C) n.806A>C n.771A>C c.*108A>C (n.*108A>C) c.1574A>C (p.Tyr525Ser) c.575A>C (p.Tyr192Ser) c.1460A>C (p.Tyr487Ser) c.1571A>C (p.Tyr524Ser) c.1559A>C (p.Tyr520Ser) | |
12 | g.112489138A>G | CA386780033 | PTPN11 | c.1562A>G (p.Tyr521Cys) n.227A>G c.1448A>G (p.Tyr483Cys) c.1224+6933A>G (n.1224+6933A>G) n.806A>G n.771A>G c.*108A>G (n.*108A>G) c.1574A>G (p.Tyr525Cys) c.575A>G (p.Tyr192Cys) c.1460A>G (p.Tyr487Cys) c.1571A>G (p.Tyr524Cys) c.1559A>G (p.Tyr520Cys) | |
12 | g.112489138A>T | CA386780034 | PTPN11 | c.1562A>T (p.Tyr521Phe) n.227A>T c.1448A>T (p.Tyr483Phe) c.1224+6933A>T (n.1224+6933A>T) n.806A>T n.771A>T c.*108A>T (n.*108A>T) c.1574A>T (p.Tyr525Phe) c.575A>T (p.Tyr192Phe) c.1460A>T (p.Tyr487Phe) c.1571A>T (p.Tyr524Phe) c.1559A>T (p.Tyr520Phe) | COSMIC |
12 | g.112489139T>A | CA386780036 | PTPN11 | c.1563T>A (p.Tyr521Ter) n.228T>A c.1449T>A (p.Tyr483Ter) c.1224+6934T>A (n.1224+6934T>A) n.807T>A n.772T>A c.*109T>A (n.*109T>A) c.1575T>A (p.Tyr525Ter) c.576T>A (p.Tyr192Ter) c.1461T>A (p.Tyr487Ter) c.1572T>A (p.Tyr524Ter) c.1560T>A (p.Tyr520Ter) | |
12 | g.112489139T>C | CA481882442 | PTPN11 | c.1563T>C (p.Tyr521=) n.228T>C c.1449T>C (p.Tyr483=) c.1224+6934T>C (n.1224+6934T>C) n.807T>C n.772T>C c.*109T>C (n.*109T>C) c.1575T>C (p.Tyr525=) c.576T>C (p.Tyr192=) c.1461T>C (p.Tyr487=) c.1572T>C (p.Tyr524=) c.1560T>C (p.Tyr520=) | |
12 | g.112489139T>G | CA386780038 | PTPN11 | c.1563T>G (p.Tyr521Ter) n.228T>G c.1449T>G (p.Tyr483Ter) c.1224+6934T>G (n.1224+6934T>G) n.807T>G n.772T>G c.*109T>G (n.*109T>G) c.1575T>G (p.Tyr525Ter) c.576T>G (p.Tyr192Ter) c.1461T>G (p.Tyr487Ter) c.1572T>G (p.Tyr524Ter) c.1560T>G (p.Tyr520Ter) | |
12 | g.112489140A= | CA2063741182 | PTPN11 | c.1564A= (p.Ile522=) n.229A= c.1450A= (p.Ile484=) c.1224+6935A= (n.1224+6935A=) n.808A= n.773A= c.*110A= (n.*110A=) c.1576A= (p.Ile526=) c.577A= (p.Ile193=) c.1462A= (p.Ile488=) c.1573A= (p.Ile525=) c.1561A= (p.Ile521=) | |
12 | g.112489140A>C | CA386780041 | PTPN11 | c.1564A>C (p.Ile522Leu) n.229A>C c.1450A>C (p.Ile484Leu) c.1224+6935A>C (n.1224+6935A>C) n.808A>C n.773A>C c.*110A>C (n.*110A>C) c.1576A>C (p.Ile526Leu) c.577A>C (p.Ile193Leu) c.1462A>C (p.Ile488Leu) c.1573A>C (p.Ile525Leu) c.1561A>C (p.Ile521Leu) | |
12 | g.112489140A>G | CA386780043 | PTPN11 | c.1564A>G (p.Ile522Val) n.229A>G c.1450A>G (p.Ile484Val) c.1224+6935A>G (n.1224+6935A>G) n.808A>G n.773A>G c.*110A>G (n.*110A>G) c.1576A>G (p.Ile526Val) c.577A>G (p.Ile193Val) c.1462A>G (p.Ile488Val) c.1573A>G (p.Ile525Val) c.1561A>G (p.Ile521Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112489140A>T | CA386780046 | PTPN11 | c.1564A>T (p.Ile522Phe) n.229A>T c.1450A>T (p.Ile484Phe) c.1224+6935A>T (n.1224+6935A>T) n.808A>T n.773A>T c.*110A>T (n.*110A>T) c.1576A>T (p.Ile526Phe) c.577A>T (p.Ile193Phe) c.1462A>T (p.Ile488Phe) c.1573A>T (p.Ile525Phe) c.1561A>T (p.Ile521Phe) | |
12 | g.112489141T>A | CA386780052 | PTPN11 | c.1565T>A (p.Ile522Asn) n.230T>A c.1451T>A (p.Ile484Asn) c.1224+6936T>A (n.1224+6936T>A) n.809T>A n.774T>A c.*111T>A (n.*111T>A) c.1577T>A (p.Ile526Asn) c.578T>A (p.Ile193Asn) c.1463T>A (p.Ile488Asn) c.1574T>A (p.Ile525Asn) c.1562T>A (p.Ile521Asn) | dbSNP |
12 | g.112489141T>C | CA386780050 | PTPN11 | c.1565T>C (p.Ile522Thr) n.230T>C c.1451T>C (p.Ile484Thr) c.1224+6936T>C (n.1224+6936T>C) n.809T>C n.774T>C c.*111T>C (n.*111T>C) c.1577T>C (p.Ile526Thr) c.578T>C (p.Ile193Thr) c.1463T>C (p.Ile488Thr) c.1574T>C (p.Ile525Thr) c.1562T>C (p.Ile521Thr) | ClinVar gnomAD v4 |
12 | g.112489141T>G | CA386780048 | PTPN11 | c.1565T>G (p.Ile522Ser) n.230T>G c.1451T>G (p.Ile484Ser) c.1224+6936T>G (n.1224+6936T>G) n.809T>G n.774T>G c.*111T>G (n.*111T>G) c.1577T>G (p.Ile526Ser) c.578T>G (p.Ile193Ser) c.1463T>G (p.Ile488Ser) c.1574T>G (p.Ile525Ser) c.1562T>G (p.Ile521Ser) | |
12 | g.112489142T>A | CA481882459 | PTPN11 | c.1566T>A (p.Ile522=) n.231T>A c.1452T>A (p.Ile484=) c.1224+6937T>A (n.1224+6937T>A) n.810T>A n.775T>A c.*112T>A (n.*112T>A) c.1578T>A (p.Ile526=) c.579T>A (p.Ile193=) c.1464T>A (p.Ile488=) c.1575T>A (p.Ile525=) c.1563T>A (p.Ile521=) | dbSNP |
12 | g.112489142T>C | CA481882463 | PTPN11 | c.1566T>C (p.Ile522=) n.231T>C c.1452T>C (p.Ile484=) c.1224+6937T>C (n.1224+6937T>C) n.810T>C n.775T>C c.*112T>C (n.*112T>C) c.1578T>C (p.Ile526=) c.579T>C (p.Ile193=) c.1464T>C (p.Ile488=) c.1575T>C (p.Ile525=) c.1563T>C (p.Ile521=) | |
12 | g.112489142T>G | CA386780054 | PTPN11 | c.1566T>G (p.Ile522Met) n.231T>G c.1452T>G (p.Ile484Met) c.1224+6937T>G (n.1224+6937T>G) n.810T>G n.775T>G c.*112T>G (n.*112T>G) c.1578T>G (p.Ile526Met) c.579T>G (p.Ile193Met) c.1464T>G (p.Ile488Met) c.1575T>G (p.Ile525Met) c.1563T>G (p.Ile521Met) | ClinVar |
12 | g.112489143G>A | CA386780055 | PTPN11 | c.1567G>A (p.Glu523Lys) n.232G>A c.1453G>A (p.Glu485Lys) c.1224+6938G>A (n.1224+6938G>A) n.811G>A n.776G>A c.*113G>A (n.*113G>A) c.1579G>A (p.Glu527Lys) c.580G>A (p.Glu194Lys) c.1465G>A (p.Glu489Lys) c.1576G>A (p.Glu526Lys) c.1564G>A (p.Glu522Lys) | dbSNP |
12 | g.112489143G>C | CA386780057 | PTPN11 | c.1567G>C (p.Glu523Gln) n.232G>C c.1453G>C (p.Glu485Gln) c.1224+6938G>C (n.1224+6938G>C) n.811G>C n.776G>C c.*113G>C (n.*113G>C) c.1579G>C (p.Glu527Gln) c.580G>C (p.Glu194Gln) c.1465G>C (p.Glu489Gln) c.1576G>C (p.Glu526Gln) c.1564G>C (p.Glu522Gln) | dbSNP |
12 | g.112489143G>T | CA386780058 | PTPN11 | c.1567G>T (p.Glu523Ter) n.232G>T c.1453G>T (p.Glu485Ter) c.1224+6938G>T (n.1224+6938G>T) n.811G>T n.776G>T c.*113G>T (n.*113G>T) c.1579G>T (p.Glu527Ter) c.580G>T (p.Glu194Ter) c.1465G>T (p.Glu489Ter) c.1576G>T (p.Glu526Ter) c.1564G>T (p.Glu522Ter) | |
12 | g.112489144A= | CA2063741187 | PTPN11 | c.1568A= (p.Glu523=) n.233A= c.1454A= (p.Glu485=) c.1224+6939A= (n.1224+6939A=) n.812A= n.777A= c.*114A= (n.*114A=) c.1580A= (p.Glu527=) c.581A= (p.Glu194=) c.1466A= (p.Glu489=) c.1577A= (p.Glu526=) c.1565A= (p.Glu522=) | |
12 | g.112489144A>C | CA386780060 | PTPN11 | c.1568A>C (p.Glu523Ala) n.233A>C c.1454A>C (p.Glu485Ala) c.1224+6939A>C (n.1224+6939A>C) n.812A>C n.777A>C c.*114A>C (n.*114A>C) c.1580A>C (p.Glu527Ala) c.581A>C (p.Glu194Ala) c.1466A>C (p.Glu489Ala) c.1577A>C (p.Glu526Ala) c.1565A>C (p.Glu522Ala) | |
12 | g.112489144A>G | CA386780061 | PTPN11 | c.1568A>G (p.Glu523Gly) n.233A>G c.1454A>G (p.Glu485Gly) c.1224+6939A>G (n.1224+6939A>G) n.812A>G n.777A>G c.*114A>G (n.*114A>G) c.1580A>G (p.Glu527Gly) c.581A>G (p.Glu194Gly) c.1466A>G (p.Glu489Gly) c.1577A>G (p.Glu526Gly) c.1565A>G (p.Glu522Gly) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.112489144A>T | CA386780064 | PTPN11 | c.1568A>T (p.Glu523Val) n.233A>T c.1454A>T (p.Glu485Val) c.1224+6939A>T (n.1224+6939A>T) n.812A>T n.777A>T c.*114A>T (n.*114A>T) c.1580A>T (p.Glu527Val) c.581A>T (p.Glu194Val) c.1466A>T (p.Glu489Val) c.1577A>T (p.Glu526Val) c.1565A>T (p.Glu522Val) | |
12 | g.112489145A= | CA2063741193 | PTPN11 | c.1569A= (p.Glu523=) n.234A= c.1455A= (p.Glu485=) c.1224+6940A= (n.1224+6940A=) n.813A= n.778A= c.*115A= (n.*115A=) c.1581A= (p.Glu527=) c.582A= (p.Glu194=) c.1467A= (p.Glu489=) c.1578A= (p.Glu526=) c.1566A= (p.Glu522=) | |
12 | g.112489145A>C | CA386780067 | PTPN11 | c.1569A>C (p.Glu523Asp) n.234A>C c.1455A>C (p.Glu485Asp) c.1224+6940A>C (n.1224+6940A>C) n.813A>C n.778A>C c.*115A>C (n.*115A>C) c.1581A>C (p.Glu527Asp) c.582A>C (p.Glu194Asp) c.1467A>C (p.Glu489Asp) c.1578A>C (p.Glu526Asp) c.1566A>C (p.Glu522Asp) | ClinVar dbSNP |
12 | g.112489145A>G | CA481882482 | PTPN11 | c.1569A>G (p.Glu523=) n.234A>G c.1455A>G (p.Glu485=) c.1224+6940A>G (n.1224+6940A>G) n.813A>G n.778A>G c.*115A>G (n.*115A>G) c.1581A>G (p.Glu527=) c.582A>G (p.Glu194=) c.1467A>G (p.Glu489=) c.1578A>G (p.Glu526=) c.1566A>G (p.Glu522=) | |
12 | g.112489145A>T | CA386780069 | PTPN11 | c.1569A>T (p.Glu523Asp) n.234A>T c.1455A>T (p.Glu485Asp) c.1224+6940A>T (n.1224+6940A>T) n.813A>T n.778A>T c.*115A>T (n.*115A>T) c.1581A>T (p.Glu527Asp) c.582A>T (p.Glu194Asp) c.1467A>T (p.Glu489Asp) c.1578A>T (p.Glu526Asp) c.1566A>T (p.Glu522Asp) | dbSNP |
12 | g.112489146A>C | CA386780071 | PTPN11 | c.1570A>C (p.Thr524Pro) n.235A>C c.1456A>C (p.Thr486Pro) c.1224+6941A>C (n.1224+6941A>C) n.814A>C n.779A>C c.*116A>C (n.*116A>C) c.1582A>C (p.Thr528Pro) c.583A>C (p.Thr195Pro) c.1468A>C (p.Thr490Pro) c.1579A>C (p.Thr527Pro) c.1567A>C (p.Thr523Pro) | |
12 | g.112489146A>G | CA386780072 | PTPN11 | c.1570A>G (p.Thr524Ala) n.235A>G c.1456A>G (p.Thr486Ala) c.1224+6941A>G (n.1224+6941A>G) n.814A>G n.779A>G c.*116A>G (n.*116A>G) c.1582A>G (p.Thr528Ala) c.583A>G (p.Thr195Ala) c.1468A>G (p.Thr490Ala) c.1579A>G (p.Thr527Ala) c.1567A>G (p.Thr523Ala) | |
12 | g.112489146A>T | CA386780075 | PTPN11 | c.1570A>T (p.Thr524Ser) n.235A>T c.1456A>T (p.Thr486Ser) c.1224+6941A>T (n.1224+6941A>T) n.814A>T n.779A>T c.*116A>T (n.*116A>T) c.1582A>T (p.Thr528Ser) c.583A>T (p.Thr195Ser) c.1468A>T (p.Thr490Ser) c.1579A>T (p.Thr527Ser) c.1567A>T (p.Thr523Ser) | |
12 | g.112489147C>A | CA386780082 | PTPN11 | c.1571C>A (p.Thr524Lys) n.236C>A c.1457C>A (p.Thr486Lys) c.1224+6942C>A (n.1224+6942C>A) n.815C>A n.780C>A c.*117C>A (n.*117C>A) c.1583C>A (p.Thr528Lys) c.584C>A (p.Thr195Lys) c.1469C>A (p.Thr490Lys) c.1580C>A (p.Thr527Lys) c.1568C>A (p.Thr523Lys) | dbSNP |
12 | g.112489147C>G | CA386780080 | PTPN11 | c.1571C>G (p.Thr524Arg) n.236C>G c.1457C>G (p.Thr486Arg) c.1224+6942C>G (n.1224+6942C>G) n.815C>G n.780C>G c.*117C>G (n.*117C>G) c.1583C>G (p.Thr528Arg) c.584C>G (p.Thr195Arg) c.1469C>G (p.Thr490Arg) c.1580C>G (p.Thr527Arg) c.1568C>G (p.Thr523Arg) | dbSNP |
12 | g.112489147C>T | CA386780078 | PTPN11 | c.1571C>T (p.Thr524Ile) n.236C>T c.1457C>T (p.Thr486Ile) c.1224+6942C>T (n.1224+6942C>T) n.815C>T n.780C>T c.*117C>T (n.*117C>T) c.1583C>T (p.Thr528Ile) c.584C>T (p.Thr195Ile) c.1469C>T (p.Thr490Ile) c.1580C>T (p.Thr527Ile) c.1568C>T (p.Thr523Ile) | |
12 | g.112489148A>C | CA481882507 | PTPN11 | c.1572A>C (p.Thr524=) n.237A>C c.1458A>C (p.Thr486=) c.1224+6943A>C (n.1224+6943A>C) n.816A>C n.781A>C c.*118A>C (n.*118A>C) c.1584A>C (p.Thr528=) c.585A>C (p.Thr195=) c.1470A>C (p.Thr490=) c.1581A>C (p.Thr527=) c.1569A>C (p.Thr523=) | |
12 | g.112489148A>G | CA481882509 | PTPN11 | c.1572A>G (p.Thr524=) n.237A>G c.1458A>G (p.Thr486=) c.1224+6943A>G (n.1224+6943A>G) n.816A>G n.781A>G c.*118A>G (n.*118A>G) c.1584A>G (p.Thr528=) c.585A>G (p.Thr195=) c.1470A>G (p.Thr490=) c.1581A>G (p.Thr527=) c.1569A>G (p.Thr523=) | |
12 | g.112489148A>T | CA481882512 | PTPN11 | c.1572A>T (p.Thr524=) n.237A>T c.1458A>T (p.Thr486=) c.1224+6943A>T (n.1224+6943A>T) n.816A>T n.781A>T c.*118A>T (n.*118A>T) c.1584A>T (p.Thr528=) c.585A>T (p.Thr195=) c.1470A>T (p.Thr490=) c.1581A>T (p.Thr527=) c.1569A>T (p.Thr523=) | |
12 | g.112489149C>A | CA386780085 | PTPN11 | c.1573C>A (p.Leu525Ile) n.238C>A c.1459C>A (p.Leu487Ile) c.1224+6944C>A (n.1224+6944C>A) n.817C>A n.782C>A c.*119C>A (n.*119C>A) c.1585C>A (p.Leu529Ile) c.586C>A (p.Leu196Ile) c.1471C>A (p.Leu491Ile) c.1582C>A (p.Leu528Ile) c.1570C>A (p.Leu524Ile) | dbSNP |
12 | g.112489149C>G | CA386780087 | PTPN11 | c.1573C>G (p.Leu525Val) n.238C>G c.1459C>G (p.Leu487Val) c.1224+6944C>G (n.1224+6944C>G) n.817C>G n.782C>G c.*119C>G (n.*119C>G) c.1585C>G (p.Leu529Val) c.586C>G (p.Leu196Val) c.1471C>G (p.Leu491Val) c.1582C>G (p.Leu528Val) c.1570C>G (p.Leu524Val) | dbSNP |
12 | g.112489149C>T | CA481882515 | PTPN11 | c.1573C>T (p.Leu525=) n.238C>T c.1459C>T (p.Leu487=) c.1224+6944C>T (n.1224+6944C>T) n.817C>T n.782C>T c.*119C>T (n.*119C>T) c.1585C>T (p.Leu529=) c.586C>T (p.Leu196=) c.1471C>T (p.Leu491=) c.1582C>T (p.Leu528=) c.1570C>T (p.Leu524=) | gnomAD v4 |
12 | g.112489150T>A | CA386780089 | PTPN11 | c.1574T>A (p.Leu525Gln) n.239T>A c.1460T>A (p.Leu487Gln) c.1224+6945T>A (n.1224+6945T>A) n.818T>A n.783T>A c.*120T>A (n.*120T>A) c.1586T>A (p.Leu529Gln) c.587T>A (p.Leu196Gln) c.1472T>A (p.Leu491Gln) c.1583T>A (p.Leu528Gln) c.1571T>A (p.Leu524Gln) | dbSNP |
12 | g.112489150T>C | CA386780091 | PTPN11 | c.1574T>C (p.Leu525Pro) n.239T>C c.1460T>C (p.Leu487Pro) c.1224+6945T>C (n.1224+6945T>C) n.818T>C n.783T>C c.*120T>C (n.*120T>C) c.1586T>C (p.Leu529Pro) c.587T>C (p.Leu196Pro) c.1472T>C (p.Leu491Pro) c.1583T>C (p.Leu528Pro) c.1571T>C (p.Leu524Pro) | dbSNP |
12 | g.112489150T>G | CA386780098 | PTPN11 | c.1574T>G (p.Leu525Arg) n.239T>G c.1460T>G (p.Leu487Arg) c.1224+6945T>G (n.1224+6945T>G) n.818T>G n.783T>G c.*120T>G (n.*120T>G) c.1586T>G (p.Leu529Arg) c.587T>G (p.Leu196Arg) c.1472T>G (p.Leu491Arg) c.1583T>G (p.Leu528Arg) c.1571T>G (p.Leu524Arg) | |
12 | g.112489151A= | CA2063741198 | PTPN11 | c.1575A= (p.Leu525=) n.240A= c.1461A= (p.Leu487=) c.1224+6946A= (n.1224+6946A=) n.819A= n.784A= c.*121A= (n.*121A=) c.1587A= (p.Leu529=) c.588A= (p.Leu196=) c.1473A= (p.Leu491=) c.1584A= (p.Leu528=) c.1572A= (p.Leu524=) | |
12 | g.112489151A>C | CA481882528 | PTPN11 | c.1575A>C (p.Leu525=) n.240A>C c.1461A>C (p.Leu487=) c.1224+6946A>C (n.1224+6946A>C) n.819A>C n.784A>C c.*121A>C (n.*121A>C) c.1587A>C (p.Leu529=) c.588A>C (p.Leu196=) c.1473A>C (p.Leu491=) c.1584A>C (p.Leu528=) c.1572A>C (p.Leu524=) | |
12 | g.112489151A>G | CA6798808 | PTPN11 | c.1575A>G (p.Leu525=) n.240A>G c.1461A>G (p.Leu487=) c.1224+6946A>G (n.1224+6946A>G) n.819A>G n.784A>G c.*121A>G (n.*121A>G) c.1587A>G (p.Leu529=) c.588A>G (p.Leu196=) c.1473A>G (p.Leu491=) c.1584A>G (p.Leu528=) c.1572A>G (p.Leu524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.112489151A>T | CA481882536 | PTPN11 | c.1575A>T (p.Leu525=) n.240A>T c.1461A>T (p.Leu487=) c.1224+6946A>T (n.1224+6946A>T) n.819A>T n.784A>T c.*121A>T (n.*121A>T) c.1587A>T (p.Leu529=) c.588A>T (p.Leu196=) c.1473A>T (p.Leu491=) c.1584A>T (p.Leu528=) c.1572A>T (p.Leu524=) | dbSNP |
12 | g.112489152C>A | CA386780105 | PTPN11 | c.1576C>A (p.Gln526Lys) n.241C>A c.1462C>A (p.Gln488Lys) c.1224+6947C>A (n.1224+6947C>A) n.820C>A n.785C>A c.*122C>A (n.*122C>A) c.1588C>A (p.Gln530Lys) c.1474C>A (p.Gln492Lys) c.1585C>A (p.Gln529Lys) c.1573C>A (p.Gln525Lys) | |
12 | g.112489152C>G | CA386780103 | PTPN11 | c.1576C>G (p.Gln526Glu) n.241C>G c.1462C>G (p.Gln488Glu) c.1224+6947C>G (n.1224+6947C>G) n.820C>G n.785C>G c.*122C>G (n.*122C>G) c.1588C>G (p.Gln530Glu) c.1474C>G (p.Gln492Glu) c.1585C>G (p.Gln529Glu) c.1573C>G (p.Gln525Glu) | dbSNP |
12 | g.112489152C>T | CA386780104 | PTPN11 | c.1576C>T (p.Gln526Ter) n.241C>T c.1462C>T (p.Gln488Ter) c.1224+6947C>T (n.1224+6947C>T) n.820C>T n.785C>T c.*122C>T (n.*122C>T) c.1588C>T (p.Gln530Ter) c.1474C>T (p.Gln492Ter) c.1585C>T (p.Gln529Ter) c.1573C>T (p.Gln525Ter) | dbSNP |
12 | g.112489153A>C | CA386780107 | PTPN11 | c.1577A>C (p.Gln526Pro) n.242A>C c.1463A>C (p.Gln488Pro) c.1224+6948A>C (n.1224+6948A>C) n.821A>C n.786A>C c.*123A>C (n.*123A>C) c.1589A>C (p.Gln530Pro) c.1475A>C (p.Gln492Pro) c.1586A>C (p.Gln529Pro) c.1574A>C (p.Gln525Pro) | |
12 | g.112489153A>G | CA386780109 | PTPN11 | c.1577A>G (p.Gln526Arg) n.242A>G c.1463A>G (p.Gln488Arg) c.1224+6948A>G (n.1224+6948A>G) n.821A>G n.786A>G c.*123A>G (n.*123A>G) c.1589A>G (p.Gln530Arg) c.1475A>G (p.Gln492Arg) c.1586A>G (p.Gln529Arg) c.1574A>G (p.Gln525Arg) | dbSNP |
12 | g.112489153A>T | CA386780110 | PTPN11 | c.1577A>T (p.Gln526Leu) n.242A>T c.1463A>T (p.Gln488Leu) c.1224+6948A>T (n.1224+6948A>T) n.821A>T n.786A>T c.*123A>T (n.*123A>T) c.1589A>T (p.Gln530Leu) c.1475A>T (p.Gln492Leu) c.1586A>T (p.Gln529Leu) c.1574A>T (p.Gln525Leu) | |
12 | g.112489154G>A | CA481882549 | PTPN11 | c.1578G>A (p.Gln526=) n.243G>A c.1464G>A (p.Gln488=) c.1224+6949G>A (n.1224+6949G>A) n.822G>A n.787G>A c.*124G>A (n.*124G>A) c.1590G>A (p.Gln530=) c.1476G>A (p.Gln492=) c.1587G>A (p.Gln529=) c.1575G>A (p.Gln525=) | ClinVar dbSNP |
12 | g.112489154G>C | CA6798809 | PTPN11 | c.1578G>C (p.Gln526His) n.243G>C c.1464G>C (p.Gln488His) c.1224+6949G>C (n.1224+6949G>C) n.822G>C n.787G>C c.*124G>C (n.*124G>C) c.1590G>C (p.Gln530His) c.1476G>C (p.Gln492His) c.1587G>C (p.Gln529His) c.1575G>C (p.Gln525His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112489154G= | CA2063741206 | PTPN11 | c.1578G= (p.Gln526=) n.243G= c.1464G= (p.Gln488=) c.1224+6949G= (n.1224+6949G=) n.822G= n.787G= c.*124G= (n.*124G=) c.1590G= (p.Gln530=) c.1476G= (p.Gln492=) c.1587G= (p.Gln529=) c.1575G= (p.Gln525=) | |
12 | g.112489154G>T | CA386780113 | PTPN11 | c.1578G>T (p.Gln526His) n.243G>T c.1464G>T (p.Gln488His) c.1224+6949G>T (n.1224+6949G>T) n.822G>T n.787G>T c.*124G>T (n.*124G>T) c.1590G>T (p.Gln530His) c.1476G>T (p.Gln492His) c.1587G>T (p.Gln529His) c.1575G>T (p.Gln525His) | |
12 | g.112489155C>A | CA386780115 | PTPN11 | c.1579C>A (p.Arg527Ser) n.244C>A c.1465C>A (p.Arg489Ser) c.1224+6950C>A (n.1224+6950C>A) n.823C>A n.788C>A c.*125C>A (n.*125C>A) c.1591C>A (p.Arg531Ser) c.1477C>A (p.Arg493Ser) c.1588C>A (p.Arg530Ser) c.1576C>A (p.Arg526Ser) | dbSNP |
12 | g.112489155C= | CA2063741215 | PTPN11 | c.1579C= (p.Arg527=) n.244C= c.1465C= (p.Arg489=) c.1224+6950C= (n.1224+6950C=) n.823C= n.788C= c.*125C= (n.*125C=) c.1591C= (p.Arg531=) c.1477C= (p.Arg493=) c.1588C= (p.Arg530=) c.1576C= (p.Arg526=) | |
12 | g.112489155C>G | CA386780117 | PTPN11 | c.1579C>G (p.Arg527Gly) n.244C>G c.1465C>G (p.Arg489Gly) c.1224+6950C>G (n.1224+6950C>G) n.823C>G n.788C>G c.*125C>G (n.*125C>G) c.1591C>G (p.Arg531Gly) c.1477C>G (p.Arg493Gly) c.1588C>G (p.Arg530Gly) c.1576C>G (p.Arg526Gly) | dbSNP |
12 | g.112489155C>T | CA6798810 | PTPN11 | c.1579C>T (p.Arg527Cys) n.244C>T c.1465C>T (p.Arg489Cys) c.1224+6950C>T (n.1224+6950C>T) n.823C>T n.788C>T c.*125C>T (n.*125C>T) c.1591C>T (p.Arg531Cys) c.1477C>T (p.Arg493Cys) c.1588C>T (p.Arg530Cys) c.1576C>T (p.Arg526Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.112489156G>A | CA6798811 | PTPN11 | c.1580G>A (p.Arg527His) n.245G>A c.1466G>A (p.Arg489His) c.1224+6951G>A (n.1224+6951G>A) n.824G>A n.789G>A c.*126G>A (n.*126G>A) c.1592G>A (p.Arg531His) c.1478G>A (p.Arg493His) c.1589G>A (p.Arg530His) c.1577G>A (p.Arg526His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.112489156G>C | CA386780120 | PTPN11 | c.1580G>C (p.Arg527Pro) n.245G>C c.1466G>C (p.Arg489Pro) c.1224+6951G>C (n.1224+6951G>C) n.824G>C n.789G>C c.*126G>C (n.*126G>C) c.1592G>C (p.Arg531Pro) c.1478G>C (p.Arg493Pro) c.1589G>C (p.Arg530Pro) c.1577G>C (p.Arg526Pro) | dbSNP |
12 | g.112489156G= | CA2063741221 | PTPN11 | c.1580G= (p.Arg527=) n.245G= c.1466G= (p.Arg489=) c.1224+6951G= (n.1224+6951G=) n.824G= n.789G= c.*126G= (n.*126G=) c.1592G= (p.Arg531=) c.1478G= (p.Arg493=) c.1589G= (p.Arg530=) c.1577G= (p.Arg526=) | |
12 | g.112489156G>T | CA386780121 | PTPN11 | c.1580G>T (p.Arg527Leu) n.245G>T c.1466G>T (p.Arg489Leu) c.1224+6951G>T (n.1224+6951G>T) n.824G>T n.789G>T c.*126G>T (n.*126G>T) c.1592G>T (p.Arg531Leu) c.1478G>T (p.Arg493Leu) c.1589G>T (p.Arg530Leu) c.1577G>T (p.Arg526Leu) | |
12 | g.112489157C>A | CA481882568 | PTPN11 | c.1581C>A (p.Arg527=) n.246C>A c.1467C>A (p.Arg489=) c.1224+6952C>A (n.1224+6952C>A) n.825C>A n.790C>A c.*127C>A (n.*127C>A) c.1593C>A (p.Arg531=) c.1479C>A (p.Arg493=) c.1590C>A (p.Arg530=) c.1578C>A (p.Arg526=) | dbSNP |
12 | g.112489157C>G | CA481882571 | PTPN11 | c.1581C>G (p.Arg527=) n.246C>G c.1467C>G (p.Arg489=) c.1224+6952C>G (n.1224+6952C>G) n.825C>G n.790C>G c.*127C>G (n.*127C>G) c.1593C>G (p.Arg531=) c.1479C>G (p.Arg493=) c.1590C>G (p.Arg530=) c.1578C>G (p.Arg526=) | dbSNP |
12 | g.112489157C>T | CA481882575 | PTPN11 | c.1581C>T (p.Arg527=) n.246C>T c.1467C>T (p.Arg489=) c.1224+6952C>T (n.1224+6952C>T) n.825C>T n.790C>T c.*127C>T (n.*127C>T) c.1593C>T (p.Arg531=) c.1479C>T (p.Arg493=) c.1590C>T (p.Arg530=) c.1578C>T (p.Arg526=) | dbSNP |
12 | g.112489158A>C | CA481882578 | PTPN11 | c.1582A>C (p.Arg528=) n.247A>C c.1468A>C (p.Arg490=) c.1224+6953A>C (n.1224+6953A>C) n.826A>C n.791A>C c.*128A>C (n.*128A>C) c.1594A>C (p.Arg532=) c.1480A>C (p.Arg494=) c.1591A>C (p.Arg531=) c.1579A>C (p.Arg527=) | |
12 | g.112489158A>G | CA386780123 | PTPN11 | c.1582A>G (p.Arg528Gly) n.247A>G c.1468A>G (p.Arg490Gly) c.1224+6953A>G (n.1224+6953A>G) n.826A>G n.791A>G c.*128A>G (n.*128A>G) c.1594A>G (p.Arg532Gly) c.1480A>G (p.Arg494Gly) c.1591A>G (p.Arg531Gly) c.1579A>G (p.Arg527Gly) | |
12 | g.112489158A>T | CA386780125 | PTPN11 | c.1582A>T (p.Arg528Trp) n.247A>T c.1468A>T (p.Arg490Trp) c.1224+6953A>T (n.1224+6953A>T) n.826A>T n.791A>T c.*128A>T (n.*128A>T) c.1594A>T (p.Arg532Trp) c.1480A>T (p.Arg494Trp) c.1591A>T (p.Arg531Trp) c.1579A>T (p.Arg527Trp) | dbSNP |
12 | g.112489159G>A | CA386780126 | PTPN11 | c.1583G>A (p.Arg528Lys) n.248G>A c.1469G>A (p.Arg490Lys) c.1224+6954G>A (n.1224+6954G>A) n.827G>A n.792G>A c.*129G>A (n.*129G>A) c.1595G>A (p.Arg532Lys) c.1481G>A (p.Arg494Lys) c.1592G>A (p.Arg531Lys) c.1580G>A (p.Arg527Lys) | dbSNP |
12 | g.112489159G>C | CA386780129 | PTPN11 | c.1583G>C (p.Arg528Thr) n.248G>C c.1469G>C (p.Arg490Thr) c.1224+6954G>C (n.1224+6954G>C) n.827G>C n.792G>C c.*129G>C (n.*129G>C) c.1595G>C (p.Arg532Thr) c.1481G>C (p.Arg494Thr) c.1592G>C (p.Arg531Thr) c.1580G>C (p.Arg527Thr) | |
12 | g.112489159G>T | CA386780131 | PTPN11 | c.1583G>T (p.Arg528Met) n.248G>T c.1469G>T (p.Arg490Met) c.1224+6954G>T (n.1224+6954G>T) n.827G>T n.792G>T c.*129G>T (n.*129G>T) c.1595G>T (p.Arg532Met) c.1481G>T (p.Arg494Met) c.1592G>T (p.Arg531Met) c.1580G>T (p.Arg527Met) | dbSNP |
12 | g.112489160G>A | CA481882591 | PTPN11 | c.1584G>A (p.Arg528=) n.249G>A c.1470G>A (p.Arg490=) c.1224+6955G>A (n.1224+6955G>A) n.828G>A n.793G>A c.*130G>A (n.*130G>A) c.1596G>A (p.Arg532=) c.1482G>A (p.Arg494=) c.1593G>A (p.Arg531=) c.1581G>A (p.Arg527=) | |
12 | g.112489160G>C | CA386780134 | PTPN11 | c.1584G>C (p.Arg528Ser) n.249G>C c.1470G>C (p.Arg490Ser) c.1224+6955G>C (n.1224+6955G>C) n.828G>C n.793G>C c.*130G>C (n.*130G>C) c.1596G>C (p.Arg532Ser) c.1482G>C (p.Arg494Ser) c.1593G>C (p.Arg531Ser) c.1581G>C (p.Arg527Ser) | dbSNP |
12 | g.112489160G>T | CA386780135 | PTPN11 | c.1584G>T (p.Arg528Ser) n.249G>T c.1470G>T (p.Arg490Ser) c.1224+6955G>T (n.1224+6955G>T) n.828G>T n.793G>T c.*130G>T (n.*130G>T) c.1596G>T (p.Arg532Ser) c.1482G>T (p.Arg494Ser) c.1593G>T (p.Arg531Ser) c.1581G>T (p.Arg527Ser) | |
12 | g.112489161A>C | CA386780142 | PTPN11 | c.1585A>C (p.Ile529Leu) n.250A>C c.1471A>C (p.Ile491Leu) c.1224+6956A>C (n.1224+6956A>C) n.829A>C n.794A>C c.*131A>C (n.*131A>C) c.1597A>C (p.Ile533Leu) c.1483A>C (p.Ile495Leu) c.1594A>C (p.Ile532Leu) c.1582A>C (p.Ile528Leu) | |
12 | g.112489161A>G | CA386780140 | PTPN11 | c.1585A>G (p.Ile529Val) n.250A>G c.1471A>G (p.Ile491Val) c.1224+6956A>G (n.1224+6956A>G) n.829A>G n.794A>G c.*131A>G (n.*131A>G) c.1597A>G (p.Ile533Val) c.1483A>G (p.Ile495Val) c.1594A>G (p.Ile532Val) c.1582A>G (p.Ile528Val) | COSMIC |
12 | g.112489161A>T | CA386780138 | PTPN11 | c.1585A>T (p.Ile529Phe) n.250A>T c.1471A>T (p.Ile491Phe) c.1224+6956A>T (n.1224+6956A>T) n.829A>T n.794A>T c.*131A>T (n.*131A>T) c.1597A>T (p.Ile533Phe) c.1483A>T (p.Ile495Phe) c.1594A>T (p.Ile532Phe) c.1582A>T (p.Ile528Phe) | |
12 | g.112489162T>A | CA386780145 | PTPN11 | c.1586T>A (p.Ile529Asn) n.251T>A c.1472T>A (p.Ile491Asn) c.1224+6957T>A (n.1224+6957T>A) n.830T>A n.795T>A c.*132T>A (n.*132T>A) c.1598T>A (p.Ile533Asn) c.1484T>A (p.Ile495Asn) c.1595T>A (p.Ile532Asn) c.1583T>A (p.Ile528Asn) | |
12 | g.112489162T>C | CA386780149 | PTPN11 | c.1586T>C (p.Ile529Thr) n.251T>C c.1472T>C (p.Ile491Thr) c.1224+6957T>C (n.1224+6957T>C) n.830T>C n.795T>C c.*132T>C (n.*132T>C) c.1598T>C (p.Ile533Thr) c.1484T>C (p.Ile495Thr) c.1595T>C (p.Ile532Thr) c.1583T>C (p.Ile528Thr) | |
12 | g.112489162T>G | CA386780146 | PTPN11 | c.1586T>G (p.Ile529Ser) n.251T>G c.1472T>G (p.Ile491Ser) c.1224+6957T>G (n.1224+6957T>G) n.830T>G n.795T>G c.*132T>G (n.*132T>G) c.1598T>G (p.Ile533Ser) c.1484T>G (p.Ile495Ser) c.1595T>G (p.Ile532Ser) c.1583T>G (p.Ile528Ser) | |
12 | g.112489163T>A | CA481882614 | PTPN11 | c.1587T>A (p.Ile529=) n.252T>A c.1473T>A (p.Ile491=) c.1224+6958T>A (n.1224+6958T>A) n.831T>A n.796T>A c.*133T>A (n.*133T>A) c.1599T>A (p.Ile533=) c.1485T>A (p.Ile495=) c.1596T>A (p.Ile532=) c.1584T>A (p.Ile528=) | |
12 | g.112489163T>C | CA481882616 | PTPN11 | c.1587T>C (p.Ile529=) n.252T>C c.1473T>C (p.Ile491=) c.1224+6958T>C (n.1224+6958T>C) n.831T>C n.796T>C c.*133T>C (n.*133T>C) c.1599T>C (p.Ile533=) c.1485T>C (p.Ile495=) c.1596T>C (p.Ile532=) c.1584T>C (p.Ile528=) | |
12 | g.112489163T>G | CA386780150 | PTPN11 | c.1587T>G (p.Ile529Met) n.252T>G c.1473T>G (p.Ile491Met) c.1224+6958T>G (n.1224+6958T>G) n.831T>G n.796T>G c.*133T>G (n.*133T>G) c.1599T>G (p.Ile533Met) c.1485T>G (p.Ile495Met) c.1596T>G (p.Ile532Met) c.1584T>G (p.Ile528Met) | |
12 | g.112489164G>A | CA386780154 | PTPN11 | c.1588G>A (p.Glu530Lys) n.253G>A c.1474G>A (p.Glu492Lys) c.1224+6959G>A (n.1224+6959G>A) n.832G>A n.797G>A c.*134G>A (n.*134G>A) c.1600G>A (p.Glu534Lys) c.1486G>A (p.Glu496Lys) c.1597G>A (p.Glu533Lys) c.1585G>A (p.Glu529Lys) | dbSNP |
12 | g.112489164G>C | CA386780152 | PTPN11 | c.1588G>C (p.Glu530Gln) n.253G>C c.1474G>C (p.Glu492Gln) c.1224+6959G>C (n.1224+6959G>C) n.832G>C n.797G>C c.*134G>C (n.*134G>C) c.1600G>C (p.Glu534Gln) c.1486G>C (p.Glu496Gln) c.1597G>C (p.Glu533Gln) c.1585G>C (p.Glu529Gln) | |
12 | g.112489164G>T | CA386780156 | PTPN11 | c.1588G>T (p.Glu530Ter) n.253G>T c.1474G>T (p.Glu492Ter) c.1224+6959G>T (n.1224+6959G>T) n.832G>T n.797G>T c.*134G>T (n.*134G>T) c.1600G>T (p.Glu534Ter) c.1486G>T (p.Glu496Ter) c.1597G>T (p.Glu533Ter) c.1585G>T (p.Glu529Ter) | |
12 | g.112489165A>C | CA386780158 | PTPN11 | c.1589A>C (p.Glu530Ala) n.254A>C c.1475A>C (p.Glu492Ala) c.1224+6960A>C (n.1224+6960A>C) n.833A>C n.798A>C c.*135A>C (n.*135A>C) c.1601A>C (p.Glu534Ala) c.1487A>C (p.Glu496Ala) c.1598A>C (p.Glu533Ala) c.1586A>C (p.Glu529Ala) | |
12 | g.112489165A>G | CA386780160 | PTPN11 | c.1589A>G (p.Glu530Gly) n.254A>G c.1475A>G (p.Glu492Gly) c.1224+6960A>G (n.1224+6960A>G) n.833A>G n.798A>G c.*135A>G (n.*135A>G) c.1601A>G (p.Glu534Gly) c.1487A>G (p.Glu496Gly) c.1598A>G (p.Glu533Gly) c.1586A>G (p.Glu529Gly) | |
12 | g.112489165A>T | CA386780162 | PTPN11 | c.1589A>T (p.Glu530Val) n.254A>T c.1475A>T (p.Glu492Val) c.1224+6960A>T (n.1224+6960A>T) n.833A>T n.798A>T c.*135A>T (n.*135A>T) c.1601A>T (p.Glu534Val) c.1487A>T (p.Glu496Val) c.1598A>T (p.Glu533Val) c.1586A>T (p.Glu529Val) | |
12 | g.112489166A>C | CA386780165 | PTPN11 | c.1590A>C (p.Glu530Asp) n.255A>C c.1476A>C (p.Glu492Asp) c.1224+6961A>C (n.1224+6961A>C) n.834A>C n.799A>C c.*136A>C (n.*136A>C) c.1602A>C (p.Glu534Asp) c.1488A>C (p.Glu496Asp) c.1599A>C (p.Glu533Asp) c.1587A>C (p.Glu529Asp) | |
12 | g.112489166A>G | CA481882639 | PTPN11 | c.1590A>G (p.Glu530=) n.255A>G c.1476A>G (p.Glu492=) c.1224+6961A>G (n.1224+6961A>G) n.834A>G n.799A>G c.*136A>G (n.*136A>G) c.1602A>G (p.Glu534=) c.1488A>G (p.Glu496=) c.1599A>G (p.Glu533=) c.1587A>G (p.Glu529=) | |
12 | g.112489166A>T | CA386780172 | PTPN11 | c.1590A>T (p.Glu530Asp) n.255A>T c.1476A>T (p.Glu492Asp) c.1224+6961A>T (n.1224+6961A>T) n.834A>T n.799A>T c.*136A>T (n.*136A>T) c.1602A>T (p.Glu534Asp) c.1488A>T (p.Glu496Asp) c.1599A>T (p.Glu533Asp) c.1587A>T (p.Glu529Asp) | |
12 | g.112489167G>A | CA386780173 | PTPN11 | c.1591G>A (p.Glu531Lys) n.256G>A c.1477G>A (p.Glu493Lys) c.1224+6962G>A (n.1224+6962G>A) n.835G>A n.800G>A c.*137G>A (n.*137G>A) c.1603G>A (p.Glu535Lys) c.1489G>A (p.Glu497Lys) c.1600G>A (p.Glu534Lys) c.1588G>A (p.Glu530Lys) | dbSNP |
12 | g.112489167G>C | CA386780174 | PTPN11 | c.1591G>C (p.Glu531Gln) n.256G>C c.1477G>C (p.Glu493Gln) c.1224+6962G>C (n.1224+6962G>C) n.835G>C n.800G>C c.*137G>C (n.*137G>C) c.1603G>C (p.Glu535Gln) c.1489G>C (p.Glu497Gln) c.1600G>C (p.Glu534Gln) c.1588G>C (p.Glu530Gln) | dbSNP |
12 | g.112489167G>T | CA386780175 | PTPN11 | c.1591G>T (p.Glu531Ter) n.256G>T c.1477G>T (p.Glu493Ter) c.1224+6962G>T (n.1224+6962G>T) n.835G>T n.800G>T c.*137G>T (n.*137G>T) c.1603G>T (p.Glu535Ter) c.1489G>T (p.Glu497Ter) c.1600G>T (p.Glu534Ter) c.1588G>T (p.Glu530Ter) | |
12 | g.112489168A>C | CA386780176 | PTPN11 | c.1592A>C (p.Glu531Ala) n.257A>C c.1478A>C (p.Glu493Ala) c.1224+6963A>C (n.1224+6963A>C) n.836A>C n.801A>C c.*138A>C (n.*138A>C) c.1604A>C (p.Glu535Ala) c.1490A>C (p.Glu497Ala) c.1601A>C (p.Glu534Ala) c.1589A>C (p.Glu530Ala) | gnomAD v4 |
12 | g.112489168A>G | CA386780177 | PTPN11 | c.1592A>G (p.Glu531Gly) n.257A>G c.1478A>G (p.Glu493Gly) c.1224+6963A>G (n.1224+6963A>G) n.836A>G n.801A>G c.*138A>G (n.*138A>G) c.1604A>G (p.Glu535Gly) c.1490A>G (p.Glu497Gly) c.1601A>G (p.Glu534Gly) c.1589A>G (p.Glu530Gly) | |
12 | g.112489168A>T | CA386780180 | PTPN11 | c.1592A>T (p.Glu531Val) n.257A>T c.1478A>T (p.Glu493Val) c.1224+6963A>T (n.1224+6963A>T) n.836A>T n.801A>T c.*138A>T (n.*138A>T) c.1604A>T (p.Glu535Val) c.1490A>T (p.Glu497Val) c.1601A>T (p.Glu534Val) c.1589A>T (p.Glu530Val) | |
12 | g.112489169A>C | CA386780182 | PTPN11 | c.1593A>C (p.Glu531Asp) n.258A>C c.1479A>C (p.Glu493Asp) c.1224+6964A>C (n.1224+6964A>C) n.837A>C n.802A>C c.*139A>C (n.*139A>C) c.1605A>C (p.Glu535Asp) c.1491A>C (p.Glu497Asp) c.1602A>C (p.Glu534Asp) c.1590A>C (p.Glu530Asp) | |
12 | g.112489169A>G | CA481882653 | PTPN11 | c.1593A>G (p.Glu531=) n.258A>G c.1479A>G (p.Glu493=) c.1224+6964A>G (n.1224+6964A>G) n.837A>G n.802A>G c.*139A>G (n.*139A>G) c.1605A>G (p.Glu535=) c.1491A>G (p.Glu497=) c.1602A>G (p.Glu534=) c.1590A>G (p.Glu530=) | |
12 | g.112489169A>T | CA386780184 | PTPN11 | c.1593A>T (p.Glu531Asp) n.258A>T c.1479A>T (p.Glu493Asp) c.1224+6964A>T (n.1224+6964A>T) n.837A>T n.802A>T c.*139A>T (n.*139A>T) c.1605A>T (p.Glu535Asp) c.1491A>T (p.Glu497Asp) c.1602A>T (p.Glu534Asp) c.1590A>T (p.Glu530Asp) | |
12 | g.112489170G>A | CA161773 | PTPN11 | c.1594G>A (p.Glu532Lys) n.259G>A c.1480G>A (p.Glu494Lys) c.1224+6965G>A (n.1224+6965G>A) n.838G>A n.803G>A c.*140G>A (n.*140G>A) c.1606G>A (p.Glu536Lys) c.1492G>A (p.Glu498Lys) c.1603G>A (p.Glu535Lys) c.1591G>A (p.Glu531Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.112489170G>C | CA386780192 | PTPN11 | c.1594G>C (p.Glu532Gln) n.259G>C c.1480G>C (p.Glu494Gln) c.1224+6965G>C (n.1224+6965G>C) n.838G>C n.803G>C c.*140G>C (n.*140G>C) c.1606G>C (p.Glu536Gln) c.1492G>C (p.Glu498Gln) c.1603G>C (p.Glu535Gln) c.1591G>C (p.Glu531Gln) | ClinVar |
12 | g.112489170G= | CA2063741225 | PTPN11 | c.1594G= (p.Glu532=) n.259G= c.1480G= (p.Glu494=) c.1224+6965G= (n.1224+6965G=) n.838G= n.803G= c.*140G= (n.*140G=) c.1606G= (p.Glu536=) c.1492G= (p.Glu498=) c.1603G= (p.Glu535=) c.1591G= (p.Glu531=) | |
12 | g.112489170G>T | CA386780190 | PTPN11 | c.1594G>T (p.Glu532Ter) n.259G>T c.1480G>T (p.Glu494Ter) c.1224+6965G>T (n.1224+6965G>T) n.838G>T n.803G>T c.*140G>T (n.*140G>T) c.1606G>T (p.Glu536Ter) c.1492G>T (p.Glu498Ter) c.1603G>T (p.Glu535Ter) c.1591G>T (p.Glu531Ter) | |
12 | g.112489171A= | CA2063741230 | PTPN11 | c.1595A= (p.Glu532=) n.260A= c.1481A= (p.Glu494=) c.1224+6966A= (n.1224+6966A=) n.839A= n.804A= c.*141A= (n.*141A=) c.1607A= (p.Glu536=) c.1493A= (p.Glu498=) c.1604A= (p.Glu535=) c.1592A= (p.Glu531=) | |
12 | g.112489171A>C | CA386780194 | PTPN11 | c.1595A>C (p.Glu532Ala) n.260A>C c.1481A>C (p.Glu494Ala) c.1224+6966A>C (n.1224+6966A>C) n.839A>C n.804A>C c.*141A>C (n.*141A>C) c.1607A>C (p.Glu536Ala) c.1493A>C (p.Glu498Ala) c.1604A>C (p.Glu535Ala) c.1592A>C (p.Glu531Ala) | |
12 | g.112489171A>G | CA282138 | PTPN11 | c.1595A>G (p.Glu532Gly) n.260A>G c.1481A>G (p.Glu494Gly) c.1224+6966A>G (n.1224+6966A>G) n.839A>G n.804A>G c.*141A>G (n.*141A>G) c.1607A>G (p.Glu536Gly) c.1493A>G (p.Glu498Gly) c.1604A>G (p.Glu535Gly) c.1592A>G (p.Glu531Gly) | dbSNP |
12 | g.112489171A>T | CA386780196 | PTPN11 | c.1595A>T (p.Glu532Val) n.260A>T c.1481A>T (p.Glu494Val) c.1224+6966A>T (n.1224+6966A>T) n.839A>T n.804A>T c.*141A>T (n.*141A>T) c.1607A>T (p.Glu536Val) c.1493A>T (p.Glu498Val) c.1604A>T (p.Glu535Val) c.1592A>T (p.Glu531Val) | |
12 | g.112489172G>A | CA481882675 | PTPN11 | c.1596G>A (p.Glu532=) n.261G>A c.1482G>A (p.Glu494=) c.1224+6967G>A (n.1224+6967G>A) n.840G>A n.805G>A c.*142G>A (n.*142G>A) c.1608G>A (p.Glu536=) c.1494G>A (p.Glu498=) c.1605G>A (p.Glu535=) c.1593G>A (p.Glu531=) | |
12 | g.112489172G>C | CA386780199 | PTPN11 | c.1596G>C (p.Glu532Asp) n.261G>C c.1482G>C (p.Glu494Asp) c.1224+6967G>C (n.1224+6967G>C) n.840G>C n.805G>C c.*142G>C (n.*142G>C) c.1608G>C (p.Glu536Asp) c.1494G>C (p.Glu498Asp) c.1605G>C (p.Glu535Asp) c.1593G>C (p.Glu531Asp) | dbSNP |
12 | g.112489172G>T | CA386780201 | PTPN11 | c.1596G>T (p.Glu532Asp) n.261G>T c.1482G>T (p.Glu494Asp) c.1224+6967G>T (n.1224+6967G>T) n.840G>T n.805G>T c.*142G>T (n.*142G>T) c.1608G>T (p.Glu536Asp) c.1494G>T (p.Glu498Asp) c.1605G>T (p.Glu535Asp) c.1593G>T (p.Glu531Asp) | |
12 | g.112489173C>A | CA386780204 | PTPN11 | c.1597C>A (p.Gln533Lys) n.262C>A c.1483C>A (p.Gln495Lys) c.1224+6968C>A (n.1224+6968C>A) n.841C>A n.806C>A c.*143C>A (n.*143C>A) c.1609C>A (p.Gln537Lys) c.1495C>A (p.Gln499Lys) c.1606C>A (p.Gln536Lys) c.1594C>A (p.Gln532Lys) | dbSNP |
12 | g.112489173C>G | CA386780205 | PTPN11 | c.1597C>G (p.Gln533Glu) n.262C>G c.1483C>G (p.Gln495Glu) c.1224+6968C>G (n.1224+6968C>G) n.841C>G n.806C>G c.*143C>G (n.*143C>G) c.1609C>G (p.Gln537Glu) c.1495C>G (p.Gln499Glu) c.1606C>G (p.Gln536Glu) c.1594C>G (p.Gln532Glu) | dbSNP |
12 | g.112489173C>T | CA386780208 | PTPN11 | c.1597C>T (p.Gln533Ter) n.262C>T c.1483C>T (p.Gln495Ter) c.1224+6968C>T (n.1224+6968C>T) n.841C>T n.806C>T c.*143C>T (n.*143C>T) c.1609C>T (p.Gln537Ter) c.1495C>T (p.Gln499Ter) c.1606C>T (p.Gln536Ter) c.1594C>T (p.Gln532Ter) | |
12 | g.112489174A>C | CA386780211 | PTPN11 | c.1598A>C (p.Gln533Pro) n.263A>C c.1484A>C (p.Gln495Pro) c.1224+6969A>C (n.1224+6969A>C) n.842A>C n.807A>C c.*144A>C (n.*144A>C) c.1610A>C (p.Gln537Pro) c.1496A>C (p.Gln499Pro) c.1607A>C (p.Gln536Pro) c.1595A>C (p.Gln532Pro) | |
12 | g.112489174A>G | CA386780214 | PTPN11 | c.1598A>G (p.Gln533Arg) n.263A>G c.1484A>G (p.Gln495Arg) c.1224+6969A>G (n.1224+6969A>G) n.842A>G n.807A>G c.*144A>G (n.*144A>G) c.1610A>G (p.Gln537Arg) c.1496A>G (p.Gln499Arg) c.1607A>G (p.Gln536Arg) c.1595A>G (p.Gln532Arg) | dbSNP |
12 | g.112489174A>T | CA386780215 | PTPN11 | c.1598A>T (p.Gln533Leu) n.263A>T c.1484A>T (p.Gln495Leu) c.1224+6969A>T (n.1224+6969A>T) n.842A>T n.807A>T c.*144A>T (n.*144A>T) c.1610A>T (p.Gln537Leu) c.1496A>T (p.Gln499Leu) c.1607A>T (p.Gln536Leu) c.1595A>T (p.Gln532Leu) |