Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.112446312A>CCA386776195PTPN11c.51A>C (p.Glu17Asp)
12g.112446312A>GCA481880928PTPN11c.51A>G (p.Glu17=)
12g.112446312A>TCA386776196PTPN11c.51A>T (p.Glu17Asp)
12g.112446313A=CA2063771401PTPN11c.52A= (p.Asn18=)
12g.112446313A>CCA386776197PTPN11c.52A>C (p.Asn18His)
12g.112446313A>GCA6798508PTPN11c.52A>G (p.Asn18Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446313A>TCA386776198PTPN11c.52A>T (p.Asn18Tyr)
12g.112446314A=CA2063771402PTPN11c.53A= (p.Asn18=)
12g.112446314A>CCA386776199PTPN11c.53A>C (p.Asn18Thr)
12g.112446314A>GCA161776PTPN11c.53A>G (p.Asn18Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112446314A>TCA386776200PTPN11c.53A>T (p.Asn18Ile)
12g.112446315C>ACA386776201PTPN11c.54C>A (p.Asn18Lys)
12g.112446315C>GCA386776202PTPN11c.54C>G (p.Asn18Lys)
gnomAD v4
12g.112446315C>TCA481880933PTPN11c.54C>T (p.Asn18=)
12g.112446316C>ACA386776203PTPN11c.55C>A (p.Leu19Ile)
12g.112446316C=CA2063771406PTPN11c.55C= (p.Leu19=)
12g.112446316C>GCA386776204PTPN11c.55C>G (p.Leu19Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112446316C>TCA481880934PTPN11c.55C>T (p.Leu19=)
12g.112446317T>ACA386776205PTPN11c.56T>A (p.Leu19Gln)
12g.112446317T>CCA386776206PTPN11c.56T>C (p.Leu19Pro)
12g.112446317T>GCA282061PTPN11c.56T>G (p.Leu19Arg)
dbSNP
12g.112446317T=CA2063771409PTPN11c.56T= (p.Leu19=)
12g.112446318A=CA2063771412PTPN11c.57A= (p.Leu19=)
12g.112446318A>CCA481880935PTPN11c.57A>C (p.Leu19=)
12g.112446318A>GCA6798509PTPN11c.57A>G (p.Leu19=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112446318A>TCA481880937PTPN11c.57A>T (p.Leu19=)
12g.112446319C>ACA386776207PTPN11c.58C>A (p.Leu20Met)
12g.112446319C=CA2063771415PTPN11c.58C= (p.Leu20=)
12g.112446319C>GCA6798510PTPN11c.58C>G (p.Leu20Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446319C>TCA481880938PTPN11c.58C>T (p.Leu20=)
gnomAD v4
12g.112446320T>ACA386776208PTPN11c.59T>A (p.Leu20Gln)
12g.112446320T>CCA386776210PTPN11c.59T>C (p.Leu20Pro)
12g.112446320T>GCA386776209PTPN11c.59T>G (p.Leu20Arg)
12g.112446321G>ACA481880939PTPN11c.60G>A (p.Leu20=)
ClinVar
12g.112446321G>CCA481880940PTPN11c.60G>C (p.Leu20=)
12g.112446321G>TCA481880941PTPN11c.60G>T (p.Leu20=)
12g.112446322T>ACA386776211PTPN11c.61T>A (p.Leu21Met)
12g.112446322T>CCA481880943PTPN11c.61T>C (p.Leu21=)
12g.112446322T>GCA386776212PTPN11c.61T>G (p.Leu21Val)
12g.112446323T>ACA386776213PTPN11c.62T>A (p.Leu21Ter)
12g.112446323T>CCA386776214PTPN11c.62T>C (p.Leu21Ser)
12g.112446323T>GCA386776215PTPN11c.62T>G (p.Leu21Trp)
gnomAD v4
12g.112446324G>ACA481880944PTPN11c.63G>A (p.Leu21=)
gnomAD v4
12g.112446324G>CCA386776216PTPN11c.63G>C (p.Leu21Phe)
12g.112446324G>TCA386776217PTPN11c.63G>T (p.Leu21Phe)
12g.112446325A=CA2063771420PTPN11c.64A= (p.Thr22=)
12g.112446325A>CCA386776218PTPN11c.64A>C (p.Thr22Pro)
gnomAD v4
12g.112446325A>GCA6798511PTPN11c.64A>G (p.Thr22Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446325A>TCA386776219PTPN11c.64A>T (p.Thr22Ser)
12g.112446326C>ACA386776222PTPN11c.65C>A (p.Thr22Lys)
12g.112446326C>GCA386776221PTPN11c.65C>G (p.Thr22Arg)
12g.112446326C>TCA386776220PTPN11c.65C>T (p.Thr22Ile)
12g.112446327A=CA2063771428PTPN11c.66A= (p.Thr22=)
12g.112446327A>CCA481880946PTPN11c.66A>C (p.Thr22=)
12g.112446327A>GCA134680PTPN11c.66A>G (p.Thr22=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112446327A>TCA481880947PTPN11c.66A>T (p.Thr22=)
12g.112446328A>CCA481880948PTPN11c.67A>C (p.Arg23=)
12g.112446328A>GCA386776223PTPN11c.67A>G (p.Arg23Gly)
12g.112446328A>TCA386776224PTPN11c.67A>T (p.Arg23Ter)
12g.112446329G>ACA386776225PTPN11c.68G>A (p.Arg23Lys)
12g.112446329G>CCA386776226PTPN11c.68G>C (p.Arg23Thr)
12g.112446329G>TCA386776227PTPN11c.68G>T (p.Arg23Ile)
12g.112446330A>CCA386776229PTPN11c.69A>C (p.Arg23Ser)
gnomAD v4
12g.112446330A>GCA481880950PTPN11c.69A>G (p.Arg23=)
12g.112446330A>TCA386776228PTPN11c.69A>T (p.Arg23Ser)
12g.112446331G>ACA386776230PTPN11c.70G>A (p.Gly24Arg)
12g.112446331G>CCA386776231PTPN11c.70G>C (p.Gly24Arg)
12g.112446331G>TCA386776232PTPN11c.70G>T (p.Gly24Ter)
12g.112446332G>ACA386776233PTPN11c.71G>A (p.Gly24Glu)
12g.112446332G>CCA386776234PTPN11c.71G>C (p.Gly24Ala)
12g.112446332G>TCA386776235PTPN11c.71G>T (p.Gly24Val)
12g.112446333A>CCA481880952PTPN11c.72A>C (p.Gly24=)
12g.112446333A>GCA481880953PTPN11c.72A>G (p.Gly24=)
12g.112446333A>TCA481880954PTPN11c.72A>T (p.Gly24=)
12g.112446334G>ACA386776236PTPN11c.73G>A (p.Val25Ile)
dbSNP
12g.112446334G>CCA386776238PTPN11c.73G>C (p.Val25Leu)
12g.112446334G=CA2063771433PTPN11c.73G= (p.Val25=)
12g.112446334G>TCA386776237PTPN11c.73G>T (p.Val25Phe)
12g.112446335T>ACA386776239PTPN11c.74T>A (p.Val25Asp)
12g.112446335T>CCA386776240PTPN11c.74T>C (p.Val25Ala)
12g.112446335T>GCA386776241PTPN11c.74T>G (p.Val25Gly)
12g.112446336T>ACA481880958PTPN11c.75T>A (p.Val25=)
12g.112446336T>CCA481880959PTPN11c.75T>C (p.Val25=)
dbSNP
12g.112446336T>GCA481880956PTPN11c.75T>G (p.Val25=)
12g.112446337G>ACA6798512PTPN11c.76G>A (p.Asp26Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446337G>CCA386776242PTPN11c.76G>C (p.Asp26His)
12g.112446337G=CA2063771439PTPN11c.76G= (p.Asp26=)
12g.112446337G>TCA386776243PTPN11c.76G>T (p.Asp26Tyr)
dbSNP gnomAD v2 gnomAD v4
12g.112446338A=CA2063771444PTPN11c.77A= (p.Asp26=)
12g.112446338A>CCA386776244PTPN11c.77A>C (p.Asp26Ala)
12g.112446338A>GCA386776245PTPN11c.77A>G (p.Asp26Gly)
12g.112446338A>TCA386776246PTPN11c.77A>T (p.Asp26Val)
dbSNP gnomAD v2 gnomAD v4
12g.112446339T>ACA386776247PTPN11c.78T>A (p.Asp26Glu)
12g.112446339T>CCA481880960PTPN11c.78T>C (p.Asp26=)
gnomAD v4
12g.112446339T>GCA386776248PTPN11c.78T>G (p.Asp26Glu)
gnomAD v4
12g.112446340G>ACA386776250PTPN11c.79G>A (p.Gly27Ser)
12g.112446340G>CCA386776251PTPN11c.79G>C (p.Gly27Arg)
12g.112446340G>TCA386776249PTPN11c.79G>T (p.Gly27Cys)
12g.112446341G>ACA386776253PTPN11c.80G>A (p.Gly27Asp)
ClinVar dbSNP
12g.112446341G>CCA386776252PTPN11c.80G>C (p.Gly27Ala)
12g.112446341G>TCA386776254PTPN11c.80G>T (p.Gly27Val)
12g.112446342C>ACA481880961PTPN11c.81C>A (p.Gly27=)
12g.112446342C>GCA481880963PTPN11c.81C>G (p.Gly27=)
12g.112446342C>TCA481880962PTPN11c.81C>T (p.Gly27=)
12g.112446343A>CCA386776255PTPN11c.82A>C (p.Ser28Arg)
12g.112446343A>GCA386776257PTPN11c.82A>G (p.Ser28Gly)
gnomAD v4
12g.112446343A>TCA386776256PTPN11c.82A>T (p.Ser28Cys)
12g.112446344G>ACA386776258PTPN11c.83G>A (p.Ser28Asn)
dbSNP gnomAD v4
12g.112446344G>CCA386776259PTPN11c.83G>C (p.Ser28Thr)
12g.112446344G>TCA386776260PTPN11c.83G>T (p.Ser28Ile)
12g.112446345T>ACA386776261PTPN11c.84T>A (p.Ser28Arg)
12g.112446345T>CCA481880965PTPN11c.84T>C (p.Ser28=)
12g.112446345T>GCA386776262PTPN11c.84T>G (p.Ser28Arg)
12g.112446346T>ACA386776263PTPN11c.85T>A (p.Phe29Ile)
12g.112446346T>CCA386776264PTPN11c.85T>C (p.Phe29Leu)
12g.112446346T>GCA386776265PTPN11c.85T>G (p.Phe29Val)
12g.112446347T>ACA386776266PTPN11c.86T>A (p.Phe29Tyr)
12g.112446347T>CCA386776267PTPN11c.86T>C (p.Phe29Ser)
12g.112446347T>GCA386776268PTPN11c.86T>G (p.Phe29Cys)
12g.112446348T>ACA386776269PTPN11c.87T>A (p.Phe29Leu)
12g.112446348T>CCA481880966PTPN11c.87T>C (p.Phe29=)
12g.112446348T>GCA386776270PTPN11c.87T>G (p.Phe29Leu)
12g.112446349T>ACA386776271PTPN11c.88T>A (p.Leu30Met)
12g.112446349T>CCA481880969PTPN11c.88T>C (p.Leu30=)
12g.112446349T>GCA386776272PTPN11c.88T>G (p.Leu30Val)
12g.112446350T>ACA386776273PTPN11c.89T>A (p.Leu30Ter)
dbSNP
12g.112446350T>CCA386776274PTPN11c.89T>C (p.Leu30Ser)
12g.112446350T>GCA386776275PTPN11c.89T>G (p.Leu30Trp)
12g.112446351G>ACA481880970PTPN11c.90G>A (p.Leu30=)
12g.112446351G>CCA386776276PTPN11c.90G>C (p.Leu30Phe)
gnomAD v4
12g.112446351G>TCA386776277PTPN11c.90G>T (p.Leu30Phe)
gnomAD v4
12g.112446352G>ACA386776278PTPN11c.91G>A (p.Ala31Thr)
12g.112446352G>CCA386776279PTPN11c.91G>C (p.Ala31Pro)
12g.112446352G>TCA386776280PTPN11c.91G>T (p.Ala31Ser)
ClinVar
12g.112446353C>ACA386776281PTPN11c.92C>A (p.Ala31Glu)
dbSNP
12g.112446353C=CA2063771450PTPN11c.92C= (p.Ala31=)
12g.112446353C>GCA386776282PTPN11c.92C>G (p.Ala31Gly)
ClinVar dbSNP
12g.112446353C>TCA386776283PTPN11c.92C>T (p.Ala31Val)
dbSNP
12g.112446354A>CCA481880971PTPN11c.93A>C (p.Ala31=)
12g.112446354A>GCA481880972PTPN11c.93A>G (p.Ala31=)
12g.112446354A>TCA481880973PTPN11c.93A>T (p.Ala31=)
12g.112446355A>CCA481880974PTPN11c.94A>C (p.Arg32=)
12g.112446355A>GCA386776284PTPN11c.94A>G (p.Arg32Gly)
12g.112446355A>TCA386776285PTPN11c.94A>T (p.Arg32Trp)
12g.112446356G>ACA386776286PTPN11c.95G>A (p.Arg32Lys)
12g.112446356G>CCA386776287PTPN11c.95G>C (p.Arg32Thr)
12g.112446356G>TCA386776288PTPN11c.95G>T (p.Arg32Met)
dbSNP
12g.112446357G>ACA481880975PTPN11c.96G>A (p.Arg32=)
gnomAD v4
12g.112446357G>CCA386776289PTPN11c.96G>C (p.Arg32Ser)
12g.112446357G>TCA386776290PTPN11c.96G>T (p.Arg32Ser)
12g.112446358C>ACA386776291PTPN11c.97C>A (p.Pro33Thr)
12g.112446358C>GCA386776292PTPN11c.97C>G (p.Pro33Ala)
12g.112446358C>TCA386776293PTPN11c.97C>T (p.Pro33Ser)
COSMIC
12g.112446359C>ACA386776294PTPN11c.98C>A (p.Pro33His)
12g.112446359C>GCA386776295PTPN11c.98C>G (p.Pro33Arg)
12g.112446359C>TCA386776296PTPN11c.98C>T (p.Pro33Leu)
COSMIC
12g.112446360T>ACA481880978PTPN11c.99T>A (p.Pro33=)
12g.112446360T>CCA481880979PTPN11c.99T>C (p.Pro33=)
ClinVar dbSNP gnomAD v4
12g.112446360T>GCA481880980PTPN11c.99T>G (p.Pro33=)
12g.112446361A>CCA386776299PTPN11c.100A>C (p.Ser34Arg)
12g.112446361A>GCA386776298PTPN11c.100A>G (p.Ser34Gly)
12g.112446361A>TCA386776297PTPN11c.100A>T (p.Ser34Cys)
12g.112446362G>ACA243707498PTPN11c.101G>A (p.Ser34Asn)
dbSNP gnomAD v4
12g.112446362G>CCA386776300PTPN11c.101G>C (p.Ser34Thr)
12g.112446362G=CA2063771454PTPN11c.101G= (p.Ser34=)
12g.112446362G>TCA386776301PTPN11c.101G>T (p.Ser34Ile)
12g.112446363T>ACA386776302PTPN11c.102T>A (p.Ser34Arg)
12g.112446363T>CCA481880984PTPN11c.102T>C (p.Ser34=)
12g.112446363T>GCA386776303PTPN11c.102T>G (p.Ser34Arg)
12g.112446364A=CA2063771460PTPN11c.103A= (p.Lys35=)
12g.112446364A>CCA386776304PTPN11c.103A>C (p.Lys35Gln)
ClinVar dbSNP gnomAD v4
12g.112446364A>GCA243707499PTPN11c.103A>G (p.Lys35Glu)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.112446364A>TCA386776305PTPN11c.103A>T (p.Lys35Ter)
12g.112446365A=CA2063771466PTPN11c.104A= (p.Lys35=)
12g.112446365A>CCA386776306PTPN11c.104A>C (p.Lys35Thr)
12g.112446365A>GCA386776307PTPN11c.104A>G (p.Lys35Arg)
12g.112446365A>TCA386776308PTPN11c.104A>T (p.Lys35Ile)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112446366A>CCA386776309PTPN11c.105A>C (p.Lys35Asn)
12g.112446366A>GCA481880985PTPN11c.105A>G (p.Lys35=)
12g.112446366A>TCA386776310PTPN11c.105A>T (p.Lys35Asn)
12g.112446367A>CCA386776312PTPN11c.106A>C (p.Ser36Arg)
12g.112446367A>GCA386776313PTPN11c.106A>G (p.Ser36Gly)
dbSNP
12g.112446367A>TCA386776311PTPN11c.106A>T (p.Ser36Cys)
12g.112446368G>ACA386776314PTPN11c.107G>A (p.Ser36Asn)
12g.112446368G>CCA386776315PTPN11c.107G>C (p.Ser36Thr)
12g.112446368G>TCA386776316PTPN11c.107G>T (p.Ser36Ile)
12g.112446369T>ACA386776317PTPN11c.108T>A (p.Ser36Arg)
12g.112446369T>CCA481880991PTPN11c.108T>C (p.Ser36=)
ClinVar dbSNP gnomAD v4
12g.112446369T>GCA386776318PTPN11c.108T>G (p.Ser36Arg)
12g.112446369T=CA2063771469PTPN11c.108T= (p.Ser36=)
12g.112446370A>CCA386776319PTPN11c.109A>C (p.Asn37His)
12g.112446370A>GCA386776320PTPN11c.109A>G (p.Asn37Asp)
12g.112446370A>TCA386776321PTPN11c.109A>T (p.Asn37Tyr)
12g.112446371A>CCA386776322PTPN11c.110A>C (p.Asn37Thr)
12g.112446371A>GCA386776323PTPN11c.110A>G (p.Asn37Ser)
12g.112446371A>TCA386776324PTPN11c.110A>T (p.Asn37Ile)
12g.112446372C>ACA386776325PTPN11c.111C>A (p.Asn37Lys)
dbSNP gnomAD v2 gnomAD v4
12g.112446372C=CA2063771471PTPN11c.111C= (p.Asn37=)
12g.112446372C>GCA386776326PTPN11c.111C>G (p.Asn37Lys)
12g.112446372C>TCA481881004PTPN11c.111C>T (p.Asn37=)
12g.112446373C>ACA386776329PTPN11c.112C>A (p.Pro38Thr)
12g.112446373C>GCA386776328PTPN11c.112C>G (p.Pro38Ala)
12g.112446373C>TCA386776327PTPN11c.112C>T (p.Pro38Ser)
12g.112446374C>ACA386776330PTPN11c.113C>A (p.Pro38His)
COSMIC
12g.112446374C>GCA386776331PTPN11c.113C>G (p.Pro38Arg)
12g.112446374C>TCA386776332PTPN11c.113C>T (p.Pro38Leu)
12g.112446375T>ACA481881014PTPN11c.114T>A (p.Pro38=)
12g.112446375T>CCA481881016PTPN11c.114T>C (p.Pro38=)
12g.112446375T>GCA6798513PTPN11c.114T>G (p.Pro38=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446375T=CA2063771474PTPN11c.114T= (p.Pro38=)
12g.112446376G>ACA10603228PTPN11c.115G>A (p.Gly39Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.112446376G>CCA386776333PTPN11c.115G>C (p.Gly39Arg)
dbSNP gnomAD v4
12g.112446376G=CA2063771478PTPN11c.115G= (p.Gly39=)
12g.112446376G>TCA386776334PTPN11c.115G>T (p.Gly39Ter)
12g.112446377G>ACA386776335PTPN11c.116G>A (p.Gly39Glu)
12g.112446377G>CCA386776336PTPN11c.116G>C (p.Gly39Ala)
12g.112446377G>TCA386776337PTPN11c.116G>T (p.Gly39Val)
12g.112446378A=CA2063771484PTPN11c.117A= (p.Gly39=)
12g.112446378A>CCA6798514PTPN11c.117A>C (p.Gly39=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446378A>GCA481881018PTPN11c.117A>G (p.Gly39=)
12g.112446378A>TCA481881017PTPN11c.117A>T (p.Gly39=)
12g.112446379G>ACA386776338PTPN11c.118G>A (p.Asp40Asn)
12g.112446379G>CCA386776339PTPN11c.118G>C (p.Asp40His)
12g.112446379G>TCA386776340PTPN11c.118G>T (p.Asp40Tyr)
12g.112446380A=CA2063771488PTPN11c.119A= (p.Asp40=)
12g.112446380A>CCA386776342PTPN11c.119A>C (p.Asp40Ala)
12g.112446380A>GCA134635PTPN11c.119A>G (p.Asp40Gly)
ClinVar dbSNP
12g.112446380A>TCA386776341PTPN11c.119A>T (p.Asp40Val)
12g.112446381C>ACA386776343PTPN11c.120C>A (p.Asp40Glu)
12g.112446381C>GCA386776344PTPN11c.120C>G (p.Asp40Glu)
12g.112446381C>TCA481881031PTPN11c.120C>T (p.Asp40=)
12g.112446382T>ACA386776345PTPN11c.121T>A (p.Phe41Ile)
12g.112446382T>CCA386776346PTPN11c.121T>C (p.Phe41Leu)
12g.112446382T>GCA386776347PTPN11c.121T>G (p.Phe41Val)
12g.112446383T>ACA386776348PTPN11c.122T>A (p.Phe41Tyr)
12g.112446383T>CCA386776349PTPN11c.122T>C (p.Phe41Ser)
dbSNP
12g.112446383T>GCA386776350PTPN11c.122T>G (p.Phe41Cys)
12g.112446384C>ACA386776351PTPN11c.123C>A (p.Phe41Leu)
12g.112446384C=CA2063771517PTPN11c.123C= (p.Phe41=)
12g.112446384C>GCA386776352PTPN11c.123C>G (p.Phe41Leu)
dbSNP
12g.112446384C>TCA481881046PTPN11c.123C>T (p.Phe41=)
dbSNP
12g.112446385A=CA2063771525PTPN11c.124A= (p.Thr42=)
12g.112446385A>CCA386776353PTPN11c.124A>C (p.Thr42Pro)
12g.112446385A>GCA235307PTPN11c.124A>G (p.Thr42Ala)
ClinVar dbSNP COSMIC
12g.112446385A>TCA386776354PTPN11c.124A>T (p.Thr42Ser)
12g.112446386C>ACA386776357PTPN11c.125C>A (p.Thr42Lys)
12g.112446386C>GCA386776355PTPN11c.125C>G (p.Thr42Arg)
12g.112446386C>TCA386776356PTPN11c.125C>T (p.Thr42Ile)
12g.112446387A=CA2063771532PTPN11c.126A= (p.Thr42=)
12g.112446387A>CCA481881061PTPN11c.126A>C (p.Thr42=)
12g.112446387A>GCA481881064PTPN11c.126A>G (p.Thr42=)
dbSNP gnomAD v3 gnomAD v4
12g.112446387A>TCA481881066PTPN11c.126A>T (p.Thr42=)
12g.112446388C>ACA386776358PTPN11c.127C>A (p.Leu43Ile)
dbSNP
12g.112446388C=CA2063771539PTPN11c.127C= (p.Leu43=)
12g.112446388C>GCA386776359PTPN11c.127C>G (p.Leu43Val)
ClinVar dbSNP gnomAD v4
12g.112446388C>TCA386776360PTPN11c.127C>T (p.Leu43Phe)
ClinVar dbSNP
12g.112446389T>ACA386776361PTPN11c.128T>A (p.Leu43His)
12g.112446389T>CCA386776362PTPN11c.128T>C (p.Leu43Pro)
12g.112446389T>GCA386776363PTPN11c.128T>G (p.Leu43Arg)
12g.112446390T>ACA481881077PTPN11c.129T>A (p.Leu43=)
12g.112446390T>CCA481881080PTPN11c.129T>C (p.Leu43=)
12g.112446390T>GCA481881087PTPN11c.129T>G (p.Leu43=)
gnomAD v4
12g.112446391T>ACA386776364PTPN11c.130T>A (p.Ser44Thr)
12g.112446391T>CCA386776365PTPN11c.130T>C (p.Ser44Pro)
12g.112446391T>GCA386776366PTPN11c.130T>G (p.Ser44Ala)
12g.112446392C>ACA386776367PTPN11c.131C>A (p.Ser44Tyr)
12g.112446392C>GCA386776368PTPN11c.131C>G (p.Ser44Cys)
dbSNP
12g.112446392C>TCA386776369PTPN11c.131C>T (p.Ser44Phe)
COSMIC
12g.112446393C>ACA282064PTPN11c.132C>A (p.Ser44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446393C=CA2063771551PTPN11c.132C= (p.Ser44=)
12g.112446393C>GCA481881098PTPN11c.132C>G (p.Ser44=)
12g.112446393C>TCA6798515PTPN11c.132C>T (p.Ser44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.112446394G>ACA386776370PTPN11c.133G>A (p.Val45Ile)
ClinVar dbSNP gnomAD v4 COSMIC
12g.112446394G>CCA386776372PTPN11c.133G>C (p.Val45Leu)
dbSNP gnomAD v3 gnomAD v4
12g.112446394G=CA2063771562PTPN11c.133G= (p.Val45=)
12g.112446394G>TCA386776371PTPN11c.133G>T (p.Val45Phe)
12g.112446395T>ACA386776373PTPN11c.134T>A (p.Val45Asp)
12g.112446395T>CCA386776375PTPN11c.134T>C (p.Val45Ala)
12g.112446395T>GCA386776374PTPN11c.134T>G (p.Val45Gly)
12g.112446396T>ACA481881110PTPN11c.135T>A (p.Val45=)
12g.112446396T>CCA481881111PTPN11c.135T>C (p.Val45=)
12g.112446396T>GCA481881113PTPN11c.135T>G (p.Val45=)
12g.112446397A>CCA481881116PTPN11c.136A>C (p.Arg46=)
12g.112446397A>GCA386776376PTPN11c.136A>G (p.Arg46Gly)
12g.112446397A>TCA386776377PTPN11c.136A>T (p.Arg46Ter)
12g.112446398G>ACA386776378PTPN11c.137G>A (p.Arg46Lys)
12g.112446398G>CCA386776379PTPN11c.137G>C (p.Arg46Thr)
12g.112446398G>TCA386776380PTPN11c.137G>T (p.Arg46Ile)
12g.112446399G>ACA386776381PTPN11c.137+1G>A (n.137+1G>A)
dbSNP
12g.112446399G>CCA386776382PTPN11c.137+1G>C (n.137+1G>C)
12g.112446399G>TCA386776383PTPN11c.137+1G>T (n.137+1G>T)
12g.112446400T>ACA386776384PTPN11c.137+2T>A (n.137+2T>A)
12g.112446400T>CCA386776385PTPN11c.137+2T>C (n.137+2T>C)
12g.112446400T>GCA386776386PTPN11c.137+2T>G (n.137+2T>G)
12g.112446403G>TCA2727222849PTPN11c.137+5G>T (n.137+5G>T)
dbSNP
12g.112446405delCA2797482865PTPN11c.137+7del (n.137+7del)
12g.112446405T>GCA243707500PTPN11c.137+7T>G (n.137+7T>G)
dbSNP gnomAD v4
12g.112446405T=CA2063771565PTPN11c.137+7T= (n.137+7T=)
12g.112446406G>CCA2063771568PTPN11c.137+8G>C (n.137+8G>C)
dbSNP
12g.112446406G=CA2063771566PTPN11c.137+8G= (n.137+8G=)
12g.112446407G>ACA2529038207PTPN11c.137+9G>A (n.137+9G>A)
12g.112446410T>GCA2547420704PTPN11c.137+12T>G (n.137+12T>G)
12g.112446411G>ACA6798516PTPN11c.137+13G>A (n.137+13G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.112446411G=CA2063771575PTPN11c.137+13G= (n.137+13G=)
12g.112446412A>CCA2621021202PTPN11c.137+14A>C (n.137+14A>C)
gnomAD v4

Number of alleles fetched