rs267606990 | p.Thr2Ile | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112419116C>T | - |
rs267606990 | p.Thr2Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112419116C>T | UniProt,dbSNP |
VAR_027183 | p.Thr2Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112419116C>T | UniProt |
RCV000211847 | p.Thr2Ile | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112419116C>T | ClinVar |
RCV000033445 | p.Thr2Ile | missense variant | - | NC_000012.12:g.112419116C>T | ClinVar |
RCV000694389 | p.Thr2Ile | missense variant | Rasopathy | NC_000012.12:g.112419116C>T | ClinVar |
RCV000014277 | p.Thr2Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112419116C>T | ClinVar |
rs886041517 | p.Arg4Gly | missense variant | - | NC_000012.12:g.112419121C>G | - |
RCV000353023 | p.Arg4Gly | missense variant | - | NC_000012.12:g.112419121C>G | ClinVar |
rs566068139 | p.Pro9Ala | missense variant | - | NC_000012.12:g.112446286C>G | 1000Genomes,ExAC,gnomAD |
rs536503257 | p.Pro9Arg | missense variant | - | NC_000012.12:g.112446287C>G | 1000Genomes,ExAC,gnomAD |
rs566068139 | p.Pro9Ser | missense variant | - | NC_000012.12:g.112446286C>T | 1000Genomes,ExAC,gnomAD |
rs536503257 | p.Pro9Gln | missense variant | - | NC_000012.12:g.112446287C>A | 1000Genomes,ExAC,gnomAD |
rs368633510 | p.Asn10Asp | missense variant | - | NC_000012.12:g.112446289A>G | ESP,ExAC,gnomAD |
rs200613531 | p.Asn10Ser | missense variant | - | NC_000012.12:g.112446290A>G | 1000Genomes,ExAC,gnomAD |
rs1472357430 | p.Ile11Val | missense variant | - | NC_000012.12:g.112446292A>G | gnomAD |
rs1181579972 | p.Ile11Thr | missense variant | - | NC_000012.12:g.112446293T>C | gnomAD |
rs1386827892 | p.Thr12Ala | missense variant | - | NC_000012.12:g.112446295A>G | gnomAD |
COSM430369 | p.Gly13Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112446299G>A | NCI-TCGA Cosmic |
rs587778635 | p.Asn18Ser | missense variant | - | NC_000012.12:g.112446314A>G | ExAC,gnomAD |
rs776089364 | p.Asn18Asp | missense variant | - | NC_000012.12:g.112446313A>G | ExAC,gnomAD |
RCV000353569 | p.Asn18Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112446314A>G | ClinVar |
RCV000261129 | p.Asn18Ser | missense variant | Metachondromatosis (METCDS) | NC_000012.12:g.112446314A>G | ClinVar |
RCV000318336 | p.Asn18Ser | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112446314A>G | ClinVar |
rs753951666 | p.Leu20Val | missense variant | - | NC_000012.12:g.112446319C>G | ExAC,gnomAD |
rs757537175 | p.Thr22Ala | missense variant | - | NC_000012.12:g.112446325A>G | ExAC,gnomAD |
rs750261927 | p.Asp26Asn | missense variant | - | NC_000012.12:g.112446337G>A | ExAC,gnomAD |
rs1247363600 | p.Asp26Val | missense variant | - | NC_000012.12:g.112446338A>T | gnomAD |
rs750261927 | p.Asp26Tyr | missense variant | - | NC_000012.12:g.112446337G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Ser28Arg | missense variant | - | NC_000012.12:g.112446343A>C | NCI-TCGA |
NCI-TCGA novel | p.Phe29Cys | missense variant | - | NC_000012.12:g.112446347T>G | NCI-TCGA |
COSM3456258 | p.Pro33Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112446359C>T | NCI-TCGA Cosmic |
rs934388335 | p.Lys35Glu | missense variant | - | NC_000012.12:g.112446364A>G | gnomAD |
rs1337565783 | p.Asn37Lys | missense variant | - | NC_000012.12:g.112446372C>A | gnomAD |
rs886041585 | p.Gly39Arg | missense variant | - | NC_000012.12:g.112446376G>A | - |
RCV000265572 | p.Gly39Arg | missense variant | - | NC_000012.12:g.112446376G>A | ClinVar |
rs397516795 | p.Asp40Gly | missense variant | - | NC_000012.12:g.112446380A>G | - |
rs397516795 | p.Asp40Gly | missense variant | - | NC_000012.12:g.112446380A>G | NCI-TCGA |
RCV000037607 | p.Asp40Gly | missense variant | - | NC_000012.12:g.112446380A>G | ClinVar |
rs397507501 | p.Thr42Ala | missense variant | - | NC_000012.12:g.112446385A>G | - |
RCV000157675 | p.Thr42Ala | missense variant | - | NC_000012.12:g.112446385A>G | ClinVar |
RCV000227194 | p.Thr42Ala | missense variant | Rasopathy | NC_000012.12:g.112446385A>G | ClinVar |
RCV000157002 | p.Thr42Ala | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112446385A>G | ClinVar |
RCV000680807 | p.Leu43Phe | missense variant | - | NC_000012.12:g.112446388C>T | ClinVar |
RCV000805888 | p.Leu43Phe | missense variant | Rasopathy | NC_000012.12:g.112446388C>T | ClinVar |
COSM4718910 | p.Val45Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112446394G>A | NCI-TCGA Cosmic |
rs765495843 | p.Asn48Ser | missense variant | - | NC_000012.12:g.112450323A>G | ExAC,gnomAD |
rs587778636 | p.Ala50Thr | missense variant | - | NC_000012.12:g.112450328G>A | ExAC,gnomAD |
RCV000121912 | p.Ala50Thr | missense variant | - | NC_000012.12:g.112450328G>A | ClinVar |
COSM13993 | p.Thr52Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112450335C>G | NCI-TCGA Cosmic |
rs397507503 | p.Thr52Ile | missense variant | - | NC_000012.12:g.112450335C>T | - |
RCV000809051 | p.Thr52Ile | missense variant | Rasopathy | NC_000012.12:g.112450335C>T | ClinVar |
COSM1677359 | p.Ile54Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112450341T>C | NCI-TCGA Cosmic |
COSM935274 | p.Lys55Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112450345G>T | NCI-TCGA Cosmic |
rs1261667540 | p.Lys55Arg | missense variant | - | NC_000012.12:g.112450344A>G | TOPMed |
RCV000154561 | p.Ile56Val | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450346A>G | ClinVar |
rs1052382672 | p.Ile56Thr | missense variant | - | NC_000012.12:g.112450347T>C | TOPMed |
RCV000531774 | p.Ile56Thr | missense variant | Rasopathy | NC_000012.12:g.112450347T>C | ClinVar |
rs397507505 | p.Asn58Tyr | missense variant | - | NC_000012.12:g.112450352A>T | - |
rs397507505 | p.Asn58Asp | missense variant | - | NC_000012.12:g.112450352A>G | - |
RCV000780655 | p.Asn58Ser | missense variant | - | NC_000012.12:g.112450353A>G | ClinVar |
RCV000413828 | p.Asn58Ser | missense variant | - | NC_000012.12:g.112450353A>G | ClinVar |
rs397507505 | p.Asn58His | missense variant | - | NC_000012.12:g.112450352A>C | - |
RCV000768061 | p.Asn58Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450352A>G | ClinVar |
RCV000587067 | p.Asn58Lys | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450354C>A | ClinVar |
RCV000037626 | p.Asn58His | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450352A>C | ClinVar |
RCV000556984 | p.Asn58Lys | missense variant | Rasopathy | NC_000012.12:g.112450354C>A | ClinVar |
RCV000033455 | p.Asn58Asp | missense variant | - | NC_000012.12:g.112450352A>G | ClinVar |
RCV000234028 | p.Asn58Asp | missense variant | Rasopathy | NC_000012.12:g.112450352A>G | ClinVar |
RCV000456871 | p.Asn58His | missense variant | Rasopathy | NC_000012.12:g.112450352A>C | ClinVar |
RCV000159042 | p.Asn58Tyr | missense variant | - | NC_000012.12:g.112450352A>T | ClinVar |
RCV000037629 | p.Asn58Lys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450354C>A | ClinVar |
RCV000157676 | p.Asn58His | missense variant | - | NC_000012.12:g.112450352A>C | ClinVar |
rs751437780 | p.Asn58Ser | missense variant | - | NC_000012.12:g.112450353A>G | ExAC,TOPMed,gnomAD |
rs397507506 | p.Asn58Lys | missense variant | - | NC_000012.12:g.112450354C>G | - |
RCV000037627 | p.Asn58Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450352A>G | ClinVar |
RCV000037630 | p.Asn58Lys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450354C>G | ClinVar |
RCV000157677 | p.Asn58Lys | missense variant | - | NC_000012.12:g.112450354C>A | ClinVar |
RCV000691488 | p.Asn58Ser | missense variant | Rasopathy | NC_000012.12:g.112450353A>G | ClinVar |
rs886043790 | p.Thr59Ala | missense variant | - | NC_000012.12:g.112450355A>G | TOPMed,gnomAD |
RCV000390743 | p.Thr59Ala | missense variant | - | NC_000012.12:g.112450355A>G | ClinVar |
rs397507507 | p.Gly60Ser | missense variant | - | NC_000012.12:g.112450358G>A | - |
RCV000033461 | p.Gly60Ala | missense variant | - | NC_000012.12:g.112450359G>C | ClinVar |
RCV000413720 | p.Gly60Arg | missense variant | - | NC_000012.12:g.112450358G>C | ClinVar |
RCV000034327 | p.Gly60Cys | missense variant | - | NC_000012.12:g.112450358G>T | ClinVar |
rs1057517935 | p.GlyAsp60GlyAsn | missense variant | - | NC_000012.12:g.112450360_112450361delinsAA | - |
RCV000157700 | p.Gly60Ser | missense variant | - | NC_000012.12:g.112450358G>A | ClinVar |
RCV000416546 | p.Gly60Ala | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450359G>C | ClinVar |
rs397507507 | p.Gly60Cys | missense variant | - | NC_000012.12:g.112450358G>T | - |
rs397507507 | p.Gly60Arg | missense variant | - | NC_000012.12:g.112450358G>C | - |
RCV000459297 | p.Gly60Ala | missense variant | Rasopathy | NC_000012.12:g.112450359G>C | ClinVar |
RCV000049228 | p.Gly60Val | missense variant | - | NC_000012.12:g.112450359G>T | ClinVar |
RCV000037631 | p.Gly60Ala | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450359G>C | ClinVar |
RCV000151684 | p.Gly60Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450358G>A | ClinVar |
NCI-TCGA novel | p.Gly60Asp | missense variant | - | NC_000012.12:g.112450359G>A | NCI-TCGA |
rs397507510 | p.Asp61Asn | missense variant | - | NC_000012.12:g.112450361G>A | - |
rs397507510 | p.Asp61His | missense variant | - | NC_000012.12:g.112450361G>C | - |
RCV000215649 | p.Asp61Tyr | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112450361G>T | ClinVar |
rs121918461 | p.Asp61Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450362A>T | UniProt,dbSNP |
VAR_015991 | p.Asp61Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450362A>T | UniProt |
RCV000589874 | p.Asp61His | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450361G>C | ClinVar |
RCV000033463 | p.Asp61Asn | missense variant | Rasopathy | NC_000012.12:g.112450361G>A | ClinVar |
RCV000576434 | p.Asp61Asn | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450361G>A | ClinVar |
RCV000157678 | p.Asp61Asn | missense variant | - | NC_000012.12:g.112450361G>A | ClinVar |
RCV000586404 | p.Asp61Asn | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450361G>A | ClinVar |
RCV000824738 | p.Asp61Gly | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450362A>G | ClinVar |
RCV000077856 | p.Asp61Gly | missense variant | - | NC_000012.12:g.112450362A>G | ClinVar |
RCV000599619 | p.Asp61Asn | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450361G>A | ClinVar |
RCV000033462 | p.Asp61His | missense variant | - | NC_000012.12:g.112450361G>C | ClinVar |
RCV000156984 | p.Asp61Gly | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450362A>G | ClinVar |
RCV000033464 | p.Asp61Gly | missense variant | Rasopathy | NC_000012.12:g.112450362A>G | ClinVar |
RCV000014258 | p.Asp61Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450362A>G | ClinVar |
RCV000626829 | p.Asp61Gly | missense variant | - | NC_000012.12:g.112450362A>G | ClinVar |
rs121918461 | p.Asp61Gly | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450362A>G | - |
rs397507510 | p.Asp61Tyr | missense variant | - | NC_000012.12:g.112450361G>T | - |
rs121918461 | p.Asp61Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450362A>G | UniProt,dbSNP |
VAR_015603 | p.Asp61Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450362A>G | UniProt |
rs121918461 | p.Asp61Ala | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450362A>C | - |
RCV000412983 | p.Asp61Asn | missense variant | - | NC_000012.12:g.112450360_112450361delinsAA | ClinVar |
RCV000156008 | p.Asp61Ala | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450362A>C | ClinVar |
rs121918460 | p.Tyr62Asp | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450364T>G | ExAC,gnomAD |
rs121918460 | p.Tyr62Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450364T>G | UniProt,dbSNP |
VAR_015605 | p.Tyr62Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450364T>G | UniProt |
RCV000153794 | p.Tyr62Asp | missense variant | - | NC_000012.12:g.112450364T>G | ClinVar |
RCV000762882 | p.Tyr62Asp | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112450364T>G | ClinVar |
RCV000590972 | p.Tyr62Asp | missense variant | Secundum atrial septal defect | NC_000012.12:g.112450364T>G | ClinVar |
RCV000014257 | p.Tyr62Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450364T>G | ClinVar |
RCV000824739 | p.Tyr62Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450364T>G | ClinVar |
rs121918460 | p.Tyr62Asn | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450364T>A | ExAC,gnomAD |
rs1013419211 | p.Tyr62Cys | missense variant | - | NC_000012.12:g.112450365A>G | TOPMed,gnomAD |
RCV000033466 | p.Tyr62Asp | missense variant | Rasopathy | NC_000012.12:g.112450364T>G | ClinVar |
RCV000156993 | p.Tyr62Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450364T>G | ClinVar |
NCI-TCGA novel | p.Tyr62Ter | stop gained | - | NC_000012.12:g.112450366C>G | NCI-TCGA |
rs121918459 | p.Tyr63Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450368A>G | UniProt,dbSNP |
VAR_015606 | p.Tyr63Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450368A>G | UniProt |
rs121918459 | p.Tyr63Cys | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450368A>G | ExAC,TOPMed,gnomAD |
RCV000077857 | p.Tyr63Cys | missense variant | - | NC_000012.12:g.112450368A>G | ClinVar |
RCV000033468 | p.Tyr63Cys | missense variant | Rasopathy | NC_000012.12:g.112450368A>G | ClinVar |
RCV000588678 | p.Tyr63Cys | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450368A>G | ClinVar |
rs1057517917 | p.Tyr63Cys | missense variant | - | NC_000012.12:g.112450368_112450369delinsGC | - |
RCV000413931 | p.Tyr63Cys | missense variant | - | NC_000012.12:g.112450368_112450369delinsGC | ClinVar |
RCV000722014 | p.Tyr63Cys | missense variant | Lymphoma | NC_000012.12:g.112450368A>G | ClinVar |
RCV000515408 | p.Tyr63Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450368A>G | ClinVar |
RCV000157000 | p.Tyr63Cys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450368A>G | ClinVar |
RCV000014261 | p.Tyr63Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450368A>G | ClinVar |
NCI-TCGA novel | p.Asp64Gly | missense variant | - | NC_000012.12:g.112450371A>G | NCI-TCGA |
RCV000037633 | p.Glu69Gln | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450385G>C | ClinVar |
RCV000033469 | p.Glu69Gln | missense variant | Rasopathy | NC_000012.12:g.112450385G>C | ClinVar |
RCV000589756 | p.Glu69Val | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450386A>T | ClinVar |
RCV000210038 | p.Glu69Lys | missense variant | - | NC_000012.12:g.112450385G>A | ClinVar |
RCV000151687 | p.Glu69Val | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450386A>T | ClinVar |
RCV000212889 | p.Glu69Gln | missense variant | - | NC_000012.12:g.112450385G>C | ClinVar |
rs397507511 | p.Glu69Lys | missense variant | - | NC_000012.12:g.112450385G>A | ExAC |
rs397507511 | p.Glu69Gln | missense variant | - | NC_000012.12:g.112450385G>C | ExAC |
NCI-TCGA novel | p.Glu69Asp | missense variant | - | NC_000012.12:g.112450387G>T | NCI-TCGA |
RCV000206837 | p.Lys70Arg | missense variant | Rasopathy | NC_000012.12:g.112450389A>G | ClinVar |
RCV000405696 | p.Lys70Arg | missense variant | - | NC_000012.12:g.112450389A>G | ClinVar |
rs755709231 | p.Phe71Cys | missense variant | - | NC_000012.12:g.112450392T>G | ExAC,gnomAD |
COSM13029 | p.Phe71Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112450393T>A | NCI-TCGA Cosmic |
RCV000593077 | p.Phe71Leu | missense variant | - | NC_000012.12:g.112450393T>G | ClinVar |
RCV000159044 | p.Phe71Val | missense variant | - | NC_000012.12:g.112450391T>G | ClinVar |
RCV000586528 | p.Phe71Leu | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450391T>C | ClinVar |
rs397507512 | p.Phe71Val | missense variant | - | NC_000012.12:g.112450391T>G | - |
rs397507512 | p.Phe71Leu | missense variant | - | NC_000012.12:g.112450391T>C | - |
rs1555267558 | p.Phe71Leu | missense variant | - | NC_000012.12:g.112450393T>G | - |
RCV000151689 | p.Phe71Leu | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450391T>C | ClinVar |
RCV000534502 | p.Phe71Leu | missense variant | Rasopathy | NC_000012.12:g.112450393T>G | ClinVar |
VAR_015994 | p.Phe71Lys | Missense | - | - | UniProt |
rs121918454 | p.Ala72Val | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450395C>T | - |
rs121918454 | p.Ala72Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450395C>T | UniProt,dbSNP |
VAR_015997 | p.Ala72Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450395C>T | UniProt |
RCV000212890 | p.Ala72Ser | missense variant | - | NC_000012.12:g.112450394G>T | ClinVar |
RCV000014252 | p.Ala72Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450394G>T | ClinVar |
RCV000033471 | p.Ala72Ser | missense variant | Rasopathy | NC_000012.12:g.112450394G>T | ClinVar |
RCV000440942 | p.Ala72Asp | missense variant | Neoplasm of brain | NC_000012.12:g.112450395C>A | ClinVar |
RCV000707460 | p.Ala72Gly | missense variant | Rasopathy | NC_000012.12:g.112450395C>G | ClinVar |
RCV000430256 | p.Ala72Asp | missense variant | Chronic lymphocytic leukemia (CLL) | NC_000012.12:g.112450395C>A | ClinVar |
RCV000576667 | p.Ala72Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450394G>T | ClinVar |
RCV000033472 | p.Ala72Pro | missense variant | - | NC_000012.12:g.112450394G>C | ClinVar |
RCV000680626 | p.Ala72Thr | missense variant | - | NC_000012.12:g.112450394G>A | ClinVar |
RCV000014253 | p.Ala72Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450395C>G | ClinVar |
RCV000413699 | p.Ala72Val | missense variant | - | NC_000012.12:g.112450395C>T | ClinVar |
RCV000441142 | p.Ala72Asp | missense variant | Neuroblastoma (NBLST1) | NC_000012.12:g.112450395C>A | ClinVar |
RCV000157001 | p.Ala72Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450394G>T | ClinVar |
RCV000762883 | p.Ala72Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450394G>T | ClinVar |
RCV000420417 | p.Ala72Asp | missense variant | Acute myeloid leukemia (AML) | NC_000012.12:g.112450395C>A | ClinVar |
RCV000157006 | p.Ala72Gly | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450395C>G | ClinVar |
rs121918454 | p.Ala72Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450395C>G | UniProt,dbSNP |
VAR_015607 | p.Ala72Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450395C>G | UniProt |
rs121918453 | p.Ala72Thr | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450394G>A | UniProt,dbSNP |
VAR_015996 | p.Ala72Thr | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450394G>A | UniProt |
rs121918453 | p.Ala72Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450394G>T | UniProt,dbSNP |
VAR_015608 | p.Ala72Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450394G>T | UniProt |
rs121918453 | p.Ala72Ser | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450394G>T | - |
RCV000157679 | p.Ala72Gly | missense variant | - | NC_000012.12:g.112450395C>G | ClinVar |
RCV000587329 | p.Ala72Gly | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450395C>G | ClinVar |
RCV000515213 | p.Ala72Gly | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450395C>G | ClinVar |
rs397507513 | p.Thr73Pro | missense variant | - | NC_000012.12:g.112450397A>C | - |
RCV000515312 | p.Thr73Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450398C>T | ClinVar |
RCV000037637 | p.Thr73Leu | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450397_112450398delinsCT | ClinVar |
RCV000014262 | p.Thr73Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450398C>T | ClinVar |
RCV000033475 | p.Thr73Ile | missense variant | Rasopathy | NC_000012.12:g.112450398C>T | ClinVar |
rs397516802 | p.Thr73Leu | missense variant | - | NC_000012.12:g.112450397_112450398delinsCT | - |
rs121918462 | p.Thr73Ile | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450398C>T | - |
rs121918462 | p.Thr73Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450398C>T | UniProt,dbSNP |
VAR_015609 | p.Thr73Ile | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450398C>T | UniProt |
RCV000033474 | p.Thr73Pro | missense variant | - | NC_000012.12:g.112450397A>C | ClinVar |
RCV000156985 | p.Thr73Ile | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450398C>T | ClinVar |
RCV000212891 | p.Thr73Ile | missense variant | - | NC_000012.12:g.112450398C>T | ClinVar |
NCI-TCGA novel | p.Thr73Ala | missense variant | - | NC_000012.12:g.112450397A>G | NCI-TCGA |
RCV000528111 | p.Ala75Pro | missense variant | Rasopathy | NC_000012.12:g.112450403G>C | ClinVar |
rs1456360392 | p.Ala75Gly | missense variant | - | NC_000012.12:g.112450404C>G | gnomAD |
rs1555267561 | p.Ala75Pro | missense variant | - | NC_000012.12:g.112450403G>C | - |
rs121918465 | p.Glu76Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>T | UniProt,dbSNP |
VAR_016001 | p.Glu76Val | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>T | UniProt |
RCV000472904 | p.Glu76Asp | missense variant | Rasopathy | NC_000012.12:g.112450408G>C | ClinVar |
RCV000033479 | p.Glu76Asp | missense variant | - | NC_000012.12:g.112450408G>C | ClinVar |
RCV000422851 | p.Glu76Lys | missense variant | Multiple myeloma (MM) | NC_000012.12:g.112450406G>A | ClinVar |
RCV000437931 | p.Glu76Gly | missense variant | Multiple myeloma (MM) | NC_000012.12:g.112450407A>G | ClinVar |
RCV000781775 | p.Glu76Val | missense variant | Rasopathy | NC_000012.12:g.112450407A>T | ClinVar |
RCV000427060 | p.Glu76Gly | missense variant | Squamous cell lung carcinoma | NC_000012.12:g.112450407A>G | ClinVar |
RCV000254683 | p.Glu76Asp | missense variant | - | NC_000012.12:g.112450408G>T | ClinVar |
RCV000033478 | p.Glu76Asp | missense variant | Rasopathy | NC_000012.12:g.112450408G>T | ClinVar |
RCV000419574 | p.Glu76Gly | missense variant | Neoplasm of the large intestine | NC_000012.12:g.112450407A>G | ClinVar |
RCV000432364 | p.Glu76Lys | missense variant | Astrocytoma | NC_000012.12:g.112450406G>A | ClinVar |
RCV000788241 | p.Glu76Val | missense variant | - | NC_000012.12:g.112450407A>T | ClinVar |
RCV000420699 | p.Glu76Gly | missense variant | Astrocytoma | NC_000012.12:g.112450407A>G | ClinVar |
RCV000433549 | p.Glu76Lys | missense variant | Squamous cell lung carcinoma | NC_000012.12:g.112450406G>A | ClinVar |
RCV000422541 | p.Glu76Lys | missense variant | Neuroblastoma (NBLST1) | NC_000012.12:g.112450406G>A | ClinVar |
RCV000033477 | p.Glu76Ala | missense variant | - | NC_000012.12:g.112450407A>C | ClinVar |
rs397507514 | p.Glu76Asp | missense variant | - | NC_000012.12:g.112450408G>T | - |
rs397507514 | p.Glu76Asp | missense variant | - | NC_000012.12:g.112450408G>C | - |
rs121918464 | p.Glu76Lys | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450406G>A | UniProt,dbSNP |
VAR_016000 | p.Glu76Lys | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450406G>A | UniProt |
rs121918465 | p.Glu76Ala | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>C | UniProt,dbSNP |
VAR_015998 | p.Glu76Ala | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>C | UniProt |
RCV000037638 | p.Glu76Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450408G>C | ClinVar |
RCV000762884 | p.Glu76Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450408G>T | ClinVar |
RCV000037639 | p.Glu76Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450408G>T | ClinVar |
rs121918465 | p.Glu76Gly | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>G | UniProt,dbSNP |
VAR_015999 | p.Glu76Gly | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112450407A>G | UniProt |
rs121918465 | p.Glu76Gly | missense variant | Juvenile myelomonocytic leukemia (jmml) | NC_000012.12:g.112450407A>G | - |
RCV000014265 | p.Glu76Val | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112450407A>T | ClinVar |
RCV000439757 | p.Glu76Lys | missense variant | Neoplasm of the large intestine | NC_000012.12:g.112450406G>A | ClinVar |
RCV000014267 | p.Glu76Ala | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112450407A>C | ClinVar |
RCV000437713 | p.Glu76Gly | missense variant | Neuroblastoma (NBLST1) | NC_000012.12:g.112450407A>G | ClinVar |
RCV000159045 | p.Glu76Gln | missense variant | - | NC_000012.12:g.112450406G>C | ClinVar |
rs397516803 | p.Gln79Lys | missense variant | - | NC_000012.12:g.112450415C>A | - |
rs121918466 | p.Gln79Arg | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112450416A>G | - |
rs121918466 | p.Gln79Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450416A>G | UniProt,dbSNP |
VAR_015611 | p.Gln79Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450416A>G | UniProt |
RCV000515381 | p.Gln79Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450416A>G | ClinVar |
RCV000157680 | p.Gln79Arg | missense variant | - | NC_000012.12:g.112450416A>G | ClinVar |
RCV000590740 | p.Gln79Arg | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450416A>G | ClinVar |
RCV000037641 | p.Gln79Arg | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450416A>G | ClinVar |
rs748952554 | p.Gln79His | missense variant | - | NC_000012.12:g.112450417G>C | ExAC,gnomAD |
RCV000037640 | p.Gln79Lys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450415C>A | ClinVar |
RCV000033480 | p.Gln79Arg | missense variant | Rasopathy | NC_000012.12:g.112450416A>G | ClinVar |
RCV000014268 | p.Gln79Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112450416A>G | ClinVar |
VAR_027186 | p.Gln79Pro | Missense | Noonan syndrome 1 (NS1) [MIM:163950] | - | UniProt |
rs1403012975 | p.Met82Lys | missense variant | - | NC_000012.12:g.112450425T>A | gnomAD |
rs397507515 | p.Met82Val | missense variant | - | NC_000012.12:g.112450424A>G | gnomAD |
RCV000522529 | p.Met82Val | missense variant | Rasopathy | NC_000012.12:g.112450424A>G | ClinVar |
RCV000724722 | p.Met82Val | missense variant | - | NC_000012.12:g.112450424A>G | ClinVar |
rs1319495648 | p.Glu83Lys | missense variant | - | NC_000012.12:g.112450427G>A | gnomAD |
rs925129380 | p.Gly86Trp | missense variant | - | NC_000012.12:g.112450436G>T | TOPMed |
rs925129380 | p.Gly86Arg | missense variant | - | NC_000012.12:g.112450436G>A | TOPMed |
RCV000210044 | p.Lys91Arg | missense variant | - | NC_000012.12:g.112450452A>G | ClinVar |
rs869312744 | p.Lys91Arg | missense variant | - | NC_000012.12:g.112450452A>G | gnomAD |
rs1225001423 | p.Gly93Arg | missense variant | - | NC_000012.12:g.112450457G>C | TOPMed |
RCV000033482 | p.Glu97Gln | missense variant | - | NC_000012.12:g.112450469G>C | ClinVar |
rs397507516 | p.Glu97Gln | missense variant | - | NC_000012.12:g.112450469G>C | ExAC,gnomAD |
RCV000024261 | p.Lys99Ter | nonsense | Metachondromatosis (METCDS) | NC_000012.12:g.112450475A>T | ClinVar |
rs387907158 | p.Lys99Ter | stop gained | Metachondromatosis (metcds) | NC_000012.12:g.112450475A>T | - |
rs747470140 | p.Pro101Ala | missense variant | - | NC_000012.12:g.112450481C>G | ExAC,gnomAD |
RCV000157021 | p.Asp106Ala | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112450497A>C | ClinVar |
rs397507517 | p.Asp106Ala | missense variant | - | NC_000012.12:g.112450497A>C | - |
RCV000033483 | p.Asp106Ala | missense variant | Rasopathy | NC_000012.12:g.112450497A>C | ClinVar |
RCV000212893 | p.Asp106Ala | missense variant | - | NC_000012.12:g.112450497A>C | ClinVar |
rs397507519 | p.Glu110Ala | missense variant | - | NC_000012.12:g.112450509A>C | - |
RCV000033485 | p.Glu110Ala | missense variant | - | NC_000012.12:g.112450509A>C | ClinVar |
RCV000589214 | p.Glu110Lys | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112450508G>A | ClinVar |
RCV000681127 | p.Glu110Asp | missense variant | - | NC_000012.12:g.112450510A>C | ClinVar |
COSM3456259 | p.His114Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453202C>T | NCI-TCGA Cosmic |
rs1482410266 | p.His116Gln | missense variant | - | NC_000012.12:g.112453210T>G | gnomAD |
rs1053009990 | p.His116Tyr | missense variant | - | NC_000012.12:g.112453208C>T | gnomAD |
RCV000594318 | p.His116Gln | missense variant | - | NC_000012.12:g.112453210T>A | ClinVar |
rs1482410266 | p.His116Gln | missense variant | - | NC_000012.12:g.112453210T>A | gnomAD |
COSM467817 | p.Leu117Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453211C>T | NCI-TCGA Cosmic |
RCV000024257 | p.Ser118Ter | frameshift | Metachondromatosis (METCDS) | NC_000012.12:g.112453211_112453212CT[2] | ClinVar |
RCV000288839 | p.Glu123Asp | missense variant | - | NC_000012.12:g.112453231G>T | ClinVar |
RCV000810975 | p.Glu123Asp | missense variant | Rasopathy | NC_000012.12:g.112453231G>T | ClinVar |
rs755619262 | p.Glu123Asp | missense variant | - | NC_000012.12:g.112453231G>T | ExAC,gnomAD |
rs1401305712 | p.Lys129Glu | missense variant | - | NC_000012.12:g.112453247A>G | TOPMed |
rs397516805 | p.Lys131Arg | missense variant | - | NC_000012.12:g.112453254A>G | ExAC,TOPMed,gnomAD |
RCV000680297 | p.Lys131Arg | missense variant | - | NC_000012.12:g.112453254A>G | ClinVar |
COSM4038880 | p.Leu136His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453269T>A | NCI-TCGA Cosmic |
RCV000024255 | p.Val137Ter | frameshift | Metachondromatosis (METCDS) | NC_000012.12:g.112453271_112453275del | ClinVar |
rs267606989 | p.Arg138Ter | stop gained | Metachondromatosis (metcds) | NC_000012.12:g.112453274C>T | gnomAD |
RCV000014276 | p.Arg138Ter | nonsense | Metachondromatosis (METCDS) | NC_000012.12:g.112453274C>T | ClinVar |
rs1385944040 | p.Arg138Gln | missense variant | - | NC_000012.12:g.112453275G>A | gnomAD |
rs397507520 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>T | - |
RCV000824742 | p.Glu139Asp | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112453279G>T | ClinVar |
RCV000585988 | p.Glu139Asp | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112453279G>C | ClinVar |
RCV000212894 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>T | ClinVar |
RCV000157007 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>C | ClinVar |
RCV000824741 | p.Glu139Asp | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112453279G>C | ClinVar |
RCV000033491 | p.Glu139Asp | missense variant | Rasopathy | NC_000012.12:g.112453279G>C | ClinVar |
RCV000617179 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>C | ClinVar |
RCV000357736 | p.Glu139Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112453279G>C | ClinVar |
RCV000623400 | p.Glu139Asp | missense variant | Inborn genetic diseases | NC_000012.12:g.112453279G>C | ClinVar |
rs397507520 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>C | - |
RCV000626830 | p.Glu139Asp | missense variant | Hypertrophic cardiomyopathy | NC_000012.12:g.112453279G>C | ClinVar |
RCV000521568 | p.Glu139Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112453279G>C | ClinVar |
RCV000033490 | p.Glu139Asp | missense variant | Rasopathy | NC_000012.12:g.112453279G>T | ClinVar |
RCV000515221 | p.Glu139Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112453279G>C | ClinVar |
RCV000077858 | p.Glu139Asp | missense variant | - | NC_000012.12:g.112453279G>C | ClinVar |
RCV000472224 | p.Ser140Cys | missense variant | Rasopathy | NC_000012.12:g.112453280A>T | ClinVar |
rs1060502527 | p.Ser140Cys | missense variant | - | NC_000012.12:g.112453280A>T | - |
NCI-TCGA novel | p.Ser142Asn | missense variant | - | NC_000012.12:g.112453287G>A | NCI-TCGA |
rs1296689385 | p.His143Arg | missense variant | - | NC_000012.12:g.112453290A>G | gnomAD |
COSM935275 | p.Asp146Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453298G>T | NCI-TCGA Cosmic |
rs1179862540 | p.Phe147Cys | missense variant | - | NC_000012.12:g.112453302T>G | gnomAD |
RCV000681211 | p.Phe147Cys | missense variant | - | NC_000012.12:g.112453302T>G | ClinVar |
rs768927453 | p.Val151Leu | missense variant | - | NC_000012.12:g.112453313G>C | ExAC,gnomAD |
rs202026962 | p.Val151Ala | missense variant | - | NC_000012.12:g.112453314T>C | 1000Genomes |
rs1395524782 | p.Arg152Cys | missense variant | - | NC_000012.12:g.112453316C>T | TOPMed |
rs397507521 | p.Arg152His | missense variant | - | NC_000012.12:g.112453317G>A | ExAC,TOPMed,gnomAD |
RCV000121913 | p.Arg152His | missense variant | - | NC_000012.12:g.112453317G>A | ClinVar |
rs1380290210 | p.Thr153Ala | missense variant | - | NC_000012.12:g.112453319A>G | TOPMed,gnomAD |
RCV000024256 | p.Thr153Ter | frameshift | Metachondromatosis (METCDS) | NC_000012.12:g.112453320_112453325delinsAAGAACACAGGGGAGAGCA | ClinVar |
rs376027245 | p.Gly154Ala | missense variant | - | NC_000012.12:g.112453323G>C | ESP,ExAC,TOPMed,gnomAD |
RCV000521157 | p.Gly154Ala | missense variant | - | NC_000012.12:g.112453323G>C | ClinVar |
COSM1358893 | p.Asp155Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453325G>A | NCI-TCGA Cosmic |
COSM259200 | p.Asp155Tyr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112453325G>T | NCI-TCGA Cosmic |
rs200712424 | p.Asp156Gly | missense variant | - | NC_000012.12:g.112453329A>G | 1000Genomes |
NCI-TCGA novel | p.Asp156Asn | missense variant | - | NC_000012.12:g.112453328G>A | NCI-TCGA |
rs1315568280 | p.Lys157Arg | missense variant | - | NC_000012.12:g.112453332A>G | gnomAD |
rs1555267825 | p.Gly158Ala | missense variant | - | NC_000012.12:g.112453335G>C | - |
RCV000578106 | p.Gly158Ala | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112453335G>C | ClinVar |
RCV000578050 | p.Gly158Ala | missense variant | Metachondromatosis (METCDS) | NC_000012.12:g.112453335G>C | ClinVar |
RCV000577992 | p.Gly158Ala | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112453335G>C | ClinVar |
rs769848611 | p.Glu159Asp | missense variant | - | NC_000012.12:g.112453339G>C | ExAC,gnomAD |
RCV000159047 | p.Gly163Ser | missense variant | Rasopathy | NC_000012.12:g.112453349G>A | ClinVar |
rs730880992 | p.Gly163Cys | missense variant | - | NC_000012.12:g.112453349G>T | ExAC,TOPMed,gnomAD |
rs730880992 | p.Gly163Ser | missense variant | - | NC_000012.12:g.112453349G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly163Asp | missense variant | - | NC_000012.12:g.112453350G>A | NCI-TCGA |
rs1460204712 | p.Val167Ala | missense variant | - | NC_000012.12:g.112453362T>C | gnomAD |
NCI-TCGA novel | p.Thr168Ala | missense variant | - | NC_000012.12:g.112453364A>G | NCI-TCGA |
RCV000681427 | p.His169Ter | frameshift | - | NC_000012.12:g.112453367del | ClinVar |
RCV000521204 | p.Arg173Pro | missense variant | - | NC_000012.12:g.112453380G>C | ClinVar |
rs369155025 | p.Arg173Pro | missense variant | - | NC_000012.12:g.112453380G>C | ESP,ExAC,gnomAD |
rs369155025 | p.Arg173His | missense variant | - | NC_000012.12:g.112453380G>A | ESP,ExAC,gnomAD |
rs369155025 | p.Arg173Leu | missense variant | - | NC_000012.12:g.112453380G>T | ESP,ExAC,gnomAD |
rs545138829 | p.Arg173Cys | missense variant | - | NC_000012.12:g.112453379C>T | ExAC,gnomAD |
rs1324123217 | p.Cys174Tyr | missense variant | - | NC_000012.12:g.112453383G>A | gnomAD |
rs1168475393 | p.Gln175Glu | missense variant | - | NC_000012.12:g.112453385C>G | gnomAD |
rs1290487642 | p.Glu176Gly | missense variant | - | NC_000012.12:g.112454565A>G | gnomAD |
rs760660964 | p.Leu177Val | missense variant | - | NC_000012.12:g.112454567C>G | ExAC,gnomAD |
COSM4641621 | p.Asp180Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112454576G>A | NCI-TCGA Cosmic |
COSM935276 | p.Val181Ile | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112454579G>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gly182Asp | missense variant | - | NC_000012.12:g.112454583G>A | NCI-TCGA |
rs1238453850 | p.Gly184Arg | missense variant | - | NC_000012.12:g.112454588G>A | TOPMed |
rs764663951 | p.Arg186Gln | missense variant | - | NC_000012.12:g.112454595G>A | ExAC,gnomAD |
rs143433437 | p.Arg186Trp | missense variant | - | NC_000012.12:g.112454594C>T | NCI-TCGA |
rs143433437 | p.Arg186Trp | missense variant | - | NC_000012.12:g.112454594C>T | ESP,ExAC,TOPMed,gnomAD |
RCV000037651 | p.Arg186Trp | missense variant | - | NC_000012.12:g.112454594C>T | ClinVar |
RCV000522506 | p.Asp188His | missense variant | - | NC_000012.12:g.112454600G>C | ClinVar |
rs1436513335 | p.Asp188Gly | missense variant | - | NC_000012.12:g.112454601A>G | TOPMed,gnomAD |
rs1555267939 | p.Asp188His | missense variant | - | NC_000012.12:g.112454600G>C | - |
RCV000781777 | p.Asp188Asn | missense variant | - | NC_000012.12:g.112454600G>A | ClinVar |
rs79068130 | p.Ser189Ala | missense variant | - | NC_000012.12:g.112454603T>G | ExAC,gnomAD |
rs370763866 | p.Thr191Arg | missense variant | - | NC_000012.12:g.112454610C>G | ExAC,gnomAD |
rs370763866 | p.Thr191Lys | missense variant | - | NC_000012.12:g.112454610C>A | ExAC,gnomAD |
rs1488672907 | p.Asp192Tyr | missense variant | - | NC_000012.12:g.112454612G>T | gnomAD |
rs1181200121 | p.Glu195Lys | missense variant | - | NC_000012.12:g.112454621G>A | TOPMed,gnomAD |
rs753107691 | p.Glu195Asp | missense variant | - | NC_000012.12:g.112454623A>C | ExAC,gnomAD |
rs76982592 | p.Tyr197Ter | stop gained | - | NC_000012.12:g.112454629T>G | ExAC,gnomAD |
rs1266830703 | p.Tyr197Cys | missense variant | - | NC_000012.12:g.112454628A>G | gnomAD |
NCI-TCGA novel | p.Lys199Asn | missense variant | - | NC_000012.12:g.112454635G>T | NCI-TCGA |
RCV000151696 | p.Asn200Tyr | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112454636A>T | ClinVar |
rs727503381 | p.Asn200Tyr | missense variant | - | NC_000012.12:g.112454636A>T | gnomAD |
NCI-TCGA novel | p.Val209Ala | missense variant | - | NC_000012.12:g.112454664T>C | NCI-TCGA |
COSM3986647 | p.Gln214Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112454678C>A | NCI-TCGA Cosmic |
rs747243342 | p.Asn217Lys | missense variant | - | NC_000012.12:g.112455958C>G | ExAC,gnomAD |
RCV000589400 | p.Thr218Ser | missense variant | - | NC_000012.12:g.112455959A>T | ClinVar |
rs768555552 | p.Thr218Ala | missense variant | - | NC_000012.12:g.112455959A>G | ExAC,gnomAD |
RCV000597366 | p.Thr218Ala | missense variant | - | NC_000012.12:g.112455959A>G | ClinVar |
rs768555552 | p.Thr218Ser | missense variant | - | NC_000012.12:g.112455959A>T | ExAC,gnomAD |
rs1201590326 | p.Thr218Lys | missense variant | - | NC_000012.12:g.112455960C>A | gnomAD |
NCI-TCGA novel | p.Thr219Ala | missense variant | - | NC_000012.12:g.112455962A>G | NCI-TCGA |
RCV000037654 | p.Arg220Ter | nonsense | Metachondromatosis (METCDS) | NC_000012.12:g.112455968del | ClinVar |
rs780911423 | p.Arg220His | missense variant | - | NC_000012.12:g.112455966G>A | ExAC,gnomAD |
RCV000037653 | p.Ile221Leu | missense variant | - | NC_000012.12:g.112455968A>T | ClinVar |
RCV000159048 | p.Ile221Val | missense variant | - | NC_000012.12:g.112455968A>G | ClinVar |
rs397516806 | p.Ile221Leu | missense variant | - | NC_000012.12:g.112455968A>T | gnomAD |
rs397516806 | p.Ile221Val | missense variant | - | NC_000012.12:g.112455968A>G | gnomAD |
COSM692039 | p.Glu225Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000012.12:g.112455980G>T | NCI-TCGA Cosmic |
COSM1222515 | p.Glu225Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112455982A>C | NCI-TCGA Cosmic |
RCV000658340 | p.Ser228Ile | missense variant | - | NC_000012.12:g.112455990G>T | ClinVar |
rs748085966 | p.Ser228Ile | missense variant | - | NC_000012.12:g.112455990G>T | ExAC,gnomAD |
rs1239878972 | p.Val230Ile | missense variant | - | NC_000012.12:g.112455995G>A | gnomAD |
rs1223522089 | p.Arg231Gln | missense variant | - | NC_000012.12:g.112455999G>A | TOPMed |
NCI-TCGA novel | p.Glu232Ter | stop gained | - | NC_000012.12:g.112456001G>T | NCI-TCGA |
RCV000159506 | p.Ser234Asn | missense variant | - | NC_000012.12:g.112456008G>A | ClinVar |
rs730881220 | p.Ser234Asn | missense variant | - | NC_000012.12:g.112456008G>A | - |
NCI-TCGA novel | p.Ser234Ile | missense variant | - | NC_000012.12:g.112456008G>T | NCI-TCGA |
NCI-TCGA novel | p.Asp241Gly | missense variant | - | NC_000012.12:g.112456029A>G | NCI-TCGA |
rs773918720 | p.Thr253Ala | missense variant | - | NC_000012.12:g.112472944A>G | ExAC,gnomAD |
rs771672596 | p.Gln255Ter | stop gained | - | NC_000012.12:g.112472950C>T | ExAC,gnomAD |
RCV000506790 | p.Gln256Arg | missense variant | - | NC_000012.12:g.112472954A>G | ClinVar |
RCV000585640 | p.Gln256Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112472954A>G | ClinVar |
RCV000824743 | p.Gln256Arg | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112472954A>G | ClinVar |
RCV000680808 | p.Gln256Lys | missense variant | - | NC_000012.12:g.112472953C>A | ClinVar |
rs1391791847 | p.Gln256Glu | missense variant | - | NC_000012.12:g.112472953C>G | gnomAD |
rs1279770165 | p.Glu258Gln | missense variant | - | NC_000012.12:g.112472959G>C | TOPMed,gnomAD |
rs397516809 | p.Glu258Asp | missense variant | - | NC_000012.12:g.112472961G>T | gnomAD |
RCV000159049 | p.Glu258Asp | missense variant | - | NC_000012.12:g.112472961G>T | ClinVar |
NCI-TCGA novel | p.Glu258Ter | stop gained | - | NC_000012.12:g.112472959G>T | NCI-TCGA |
rs1378752914 | p.Cys259Ter | stop gained | - | NC_000012.12:g.112472964C>A | gnomAD |
rs773417679 | p.Lys260Arg | missense variant | - | NC_000012.12:g.112472966A>G | ExAC,TOPMed,gnomAD |
rs765642157 | p.Leu261His | missense variant | - | NC_000012.12:g.112472969T>A | ExAC,gnomAD |
RCV000037657 | p.Leu261Phe | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112472968C>T | ClinVar |
RCV000522926 | p.Leu261Phe | missense variant | Rasopathy | NC_000012.12:g.112472968C>T | ClinVar |
RCV000354323 | p.Leu261Arg | missense variant | - | NC_000012.12:g.112472969T>G | ClinVar |
rs765642157 | p.Leu261Arg | missense variant | - | NC_000012.12:g.112472969T>G | ExAC,gnomAD |
rs397507525 | p.Leu261Phe | missense variant | - | NC_000012.12:g.112472968C>T | gnomAD |
RCV000157701 | p.Leu261Phe | missense variant | - | NC_000012.12:g.112472968C>T | ClinVar |
COSM3456261 | p.Leu262Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112472971C>T | NCI-TCGA Cosmic |
RCV000106324 | p.Leu262Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112472972T>G | ClinVar |
rs397507526 | p.Leu262Arg | missense variant | - | NC_000012.12:g.112472972T>G | ExAC,gnomAD |
rs397507526 | p.Leu262His | missense variant | - | NC_000012.12:g.112472972T>A | ExAC,gnomAD |
VAR_078103 | p.Leu262Phe | Missense | Noonan syndrome 1 (NS1) [MIM:163950] | - | UniProt |
rs763617831 | p.Tyr263Cys | missense variant | - | NC_000012.12:g.112472975A>G | ExAC,gnomAD |
rs1193712005 | p.Ser264Thr | missense variant | - | NC_000012.12:g.112472978G>C | gnomAD |
RCV000723292 | p.Arg265Gln | missense variant | PTPN11-related disorder | NC_000012.12:g.112472981G>A | ClinVar |
RCV000153788 | p.Arg265Gln | missense variant | - | NC_000012.12:g.112472981G>A | ClinVar |
RCV000037658 | p.Arg265Gln | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112472981G>A | ClinVar |
rs376607329 | p.Arg265Gln | missense variant | - | NC_000012.12:g.112472981G>A | ESP,ExAC,TOPMed,gnomAD |
RCV000477501 | p.Arg265Gln | missense variant | Rasopathy | NC_000012.12:g.112472981G>A | ClinVar |
rs755104848 | p.Glu267Asp | missense variant | - | NC_000012.12:g.112472988G>T | ExAC,gnomAD |
rs397507527 | p.Gly268Ser | missense variant | - | NC_000012.12:g.112472989G>A | ExAC,gnomAD |
RCV000159050 | p.Gly268Ser | missense variant | - | NC_000012.12:g.112472989G>A | ClinVar |
RCV000037660 | p.Gly268Cys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112472989G>T | ClinVar |
RCV000037659 | p.Gly268Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112472989G>A | ClinVar |
rs397507527 | p.Gly268Cys | missense variant | - | NC_000012.12:g.112472989G>T | ExAC,gnomAD |
RCV000587886 | p.Gly268Ser | missense variant | Rasopathy | NC_000012.12:g.112472989G>A | ClinVar |
RCV000179850 | p.Gln269Arg | missense variant | - | NC_000012.12:g.112472993A>G | ClinVar |
rs794727858 | p.Gln269Arg | missense variant | - | NC_000012.12:g.112472993A>G | - |
rs752966396 | p.Glu272Lys | missense variant | - | NC_000012.12:g.112473001G>A | ExAC |
rs397507528 | p.Asn275Thr | missense variant | - | NC_000012.12:g.112473011A>C | ExAC,TOPMed,gnomAD |
rs1167080618 | p.Asn275His | missense variant | - | NC_000012.12:g.112473010A>C | gnomAD |
RCV000413183 | p.Lys276Arg | missense variant | - | NC_000012.12:g.112473014A>G | ClinVar |
rs777603059 | p.Lys276Arg | missense variant | - | NC_000012.12:g.112473014A>G | ExAC,TOPMed,gnomAD |
rs121918456 | p.Tyr279Ser | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112473023A>C | UniProt,dbSNP |
VAR_027188 | p.Tyr279Ser | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112473023A>C | UniProt |
rs121918456 | p.Tyr279Ser | missense variant | - | NC_000012.12:g.112473023A>C | - |
rs121918456 | p.Tyr279Cys | missense variant | - | NC_000012.12:g.112473023A>G | NCI-TCGA,NCI-TCGA Cosmic |
RCV000577894 | p.Tyr279Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473023A>G | ClinVar |
RCV000055889 | p.Tyr279Ser | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112473023A>C | ClinVar |
rs121918456 | p.Tyr279Cys | missense variant | - | NC_000012.12:g.112473023A>G | - |
rs121918456 | p.Tyr279Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473023A>G | UniProt,dbSNP |
VAR_015614 | p.Tyr279Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473023A>G | UniProt |
rs397507529 | p.Ile282Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473031A>G | UniProt,dbSNP |
VAR_015615 | p.Ile282Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473031A>G | UniProt |
rs397507529 | p.Ile282Val | missense variant | - | NC_000012.12:g.112473031A>G | TOPMed |
RCV000824745 | p.Ile282Val | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112473031A>G | ClinVar |
RCV000349409 | p.Ile282Thr | missense variant | - | NC_000012.12:g.112473032T>C | ClinVar |
RCV000077860 | p.Ile282Val | missense variant | - | NC_000012.12:g.112473031A>G | ClinVar |
RCV000624312 | p.Ile282Val | missense variant | Inborn genetic diseases | NC_000012.12:g.112473031A>G | ClinVar |
RCV000033505 | p.Ile282Val | missense variant | Rasopathy | NC_000012.12:g.112473031A>G | ClinVar |
rs397507530 | p.Ile282Met | missense variant | - | NC_000012.12:g.112473033C>G | NCI-TCGA,NCI-TCGA Cosmic |
RCV000037661 | p.Ile282Met | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112473033C>G | ClinVar |
rs886041495 | p.Ile282Thr | missense variant | - | NC_000012.12:g.112473032T>C | - |
rs778374689 | p.Leu283Met | missense variant | - | NC_000012.12:g.112473034C>A | ExAC,gnomAD |
COSM3456262 | p.Pro284Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112473038C>T | NCI-TCGA Cosmic |
rs121918463 | p.Phe285Cys | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477651T>G | - |
rs121918463 | p.Phe285Ser | missense variant | - | NC_000012.12:g.112477651T>C | NCI-TCGA,NCI-TCGA Cosmic |
rs121918463 | p.Phe285Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477651T>C | UniProt,dbSNP |
VAR_015616 | p.Phe285Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477651T>C | UniProt |
rs121918463 | p.Phe285Ser | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477651T>C | - |
RCV000623706 | p.Phe285Leu | missense variant | Inborn genetic diseases | NC_000012.12:g.112473040T>C | ClinVar |
RCV000037665 | p.Phe285Leu | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477652T>G | ClinVar |
RCV000159051 | p.Phe285Tyr | missense variant | - | NC_000012.12:g.112477651T>A | ClinVar |
RCV000033513 | p.Phe285Cys | missense variant | Rasopathy | NC_000012.12:g.112477651T>G | ClinVar |
RCV000687570 | p.Phe285Leu | missense variant | Rasopathy | NC_000012.12:g.112477652T>G | ClinVar |
RCV000587757 | p.Phe285Leu | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112477652T>G | ClinVar |
RCV000159052 | p.Phe285Leu | missense variant | - | NC_000012.12:g.112477652T>G | ClinVar |
RCV000037663 | p.Phe285Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477651T>C | ClinVar |
RCV000212895 | p.Phe285Cys | missense variant | - | NC_000012.12:g.112477651T>G | ClinVar |
RCV000077862 | p.Phe285Ser | missense variant | - | NC_000012.12:g.112477651T>C | ClinVar |
RCV000458650 | p.Phe285Ser | missense variant | Rasopathy | NC_000012.12:g.112477651T>C | ClinVar |
rs397516810 | p.Phe285Leu | missense variant | - | NC_000012.12:g.112477652T>G | - |
rs397507531 | p.Phe285Leu | missense variant | - | NC_000012.12:g.112473040T>C | - |
rs397507531 | p.Phe285Leu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473040T>C | UniProt,dbSNP |
VAR_015617 | p.Phe285Leu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112473040T>C | UniProt |
rs121918463 | p.Phe285Tyr | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477651T>A | - |
RCV000014263 | p.Phe285Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477651T>C | ClinVar |
RCV000190417 | p.Phe285Ser | missense variant | Early T cell progenitor acute lymphoblastic leukemia | NC_000012.12:g.112477651T>C | ClinVar |
RCV000037664 | p.Phe285Cys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477651T>G | ClinVar |
RCV000037666 | p.Asp286Glu | missense variant | - | NC_000012.12:g.112477655T>A | ClinVar |
rs397516811 | p.Asp286Glu | missense variant | - | NC_000012.12:g.112477655T>A | - |
rs1555269782 | p.Val290Ile | missense variant | - | NC_000012.12:g.112477665G>A | - |
RCV000590078 | p.Val290Ile | missense variant | - | NC_000012.12:g.112477665G>A | ClinVar |
rs1340811351 | p.Val290Ala | missense variant | - | NC_000012.12:g.112477666T>C | gnomAD |
rs1283049536 | p.His293Tyr | missense variant | - | NC_000012.12:g.112477674C>T | gnomAD |
rs117730996 | p.His293Gln | missense variant | - | NC_000012.12:g.112477676C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000320986 | p.His293Gln | missense variant | - | NC_000012.12:g.112477676C>G | ClinVar |
rs746607246 | p.Asp294Gly | missense variant | - | NC_000012.12:g.112477678A>G | ExAC,gnomAD |
rs376007642 | p.Asp294Asn | missense variant | - | NC_000012.12:g.112477677G>A | ESP,TOPMed,gnomAD |
rs376007642 | p.Asp294Tyr | missense variant | - | NC_000012.12:g.112477677G>T | ESP,TOPMed,gnomAD |
rs1485809548 | p.Pro297Ala | missense variant | - | NC_000012.12:g.112477686C>G | gnomAD |
rs572274623 | p.Asn298Ser | missense variant | - | NC_000012.12:g.112477690A>G | ExAC,TOPMed,gnomAD |
RCV000208167 | p.Asn298Ser | missense variant | Cardio-facio-cutaneous syndrome (CFC1) | NC_000012.12:g.112477690A>G | ClinVar |
RCV000159053 | p.Asn298Ser | missense variant | - | NC_000012.12:g.112477690A>G | ClinVar |
rs888674339 | p.Pro300Thr | missense variant | - | NC_000012.12:g.112477695C>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Val301Ala | missense variant | - | NC_000012.12:g.112477699T>C | NCI-TCGA |
RCV000159058 | p.Ile305Val | missense variant | - | NC_000012.12:g.112477710A>G | ClinVar |
rs730880995 | p.Ile305Val | missense variant | - | NC_000012.12:g.112477710A>G | - |
rs121918455 | p.Asn308Thr | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477720A>C | - |
rs28933386 | p.Asn308Asp | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477719A>G | ESP,ExAC,TOPMed,gnomAD |
rs28933386 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | UniProt,dbSNP |
VAR_015619 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | UniProt |
rs121918455 | p.Asn308Ser | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112477720A>G | - |
rs121918455 | p.Asn308Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477720A>G | UniProt,dbSNP |
VAR_015618 | p.Asn308Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477720A>G | UniProt |
RCV000622835 | p.Asn308Asp | missense variant | Inborn genetic diseases | NC_000012.12:g.112477719A>G | ClinVar |
RCV000621227 | p.Asn308Asp | missense variant | - | NC_000012.12:g.112477719A>G | ClinVar |
RCV000033516 | p.Asn308Asp | missense variant | Rasopathy | NC_000012.12:g.112477719A>G | ClinVar |
RCV000576594 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | ClinVar |
RCV000014254 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | ClinVar |
rs121918455 | p.Asn308Ser | missense variant | - | NC_000012.12:g.112477720A>G | NCI-TCGA,NCI-TCGA Cosmic |
RCV000515324 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | ClinVar |
RCV000077863 | p.Asn308Asp | missense variant | - | NC_000012.12:g.112477719A>G | ClinVar |
RCV000156977 | p.Asn308Asp | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477719A>G | ClinVar |
RCV000033518 | p.Asn308Ser | missense variant | Rasopathy | NC_000012.12:g.112477720A>G | ClinVar |
RCV000157682 | p.Asn308Ser | missense variant | - | NC_000012.12:g.112477720A>G | ClinVar |
RCV000588570 | p.Asn308Ser | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112477720A>G | ClinVar |
RCV000037668 | p.Asn308Thr | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477720A>C | ClinVar |
RCV000515421 | p.Asn308Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477720A>G | ClinVar |
RCV000037669 | p.Asn308Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477720A>G | ClinVar |
RCV000850589 | p.Asn308Asp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477719A>G | ClinVar |
rs28933386 | p.Asn308Asp | missense variant | - | NC_000012.12:g.112477719A>G | NCI-TCGA,NCI-TCGA Cosmic |
RCV000033517 | p.Asn308Thr | missense variant | - | NC_000012.12:g.112477720A>C | ClinVar |
RCV000014255 | p.Asn308Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477720A>G | ClinVar |
RCV000589645 | p.Ile309Val | missense variant | - | NC_000012.12:g.112477722A>G | ClinVar |
rs201787206 | p.Ile309Val | missense variant | - | NC_000012.12:g.112477722A>G | ESP,ExAC,TOPMed,gnomAD |
rs201787206 | p.Ile309Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477722A>G | UniProt,dbSNP |
VAR_015620 | p.Ile309Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477722A>G | UniProt |
RCV000151704 | p.Ile309Val | missense variant | - | NC_000012.12:g.112477722A>G | ClinVar |
NCI-TCGA novel | p.Ile309Met | missense variant | - | NC_000012.12:g.112477724C>G | NCI-TCGA |
rs201226824 | p.Met311Thr | missense variant | - | NC_000012.12:g.112477729T>C | 1000Genomes,ExAC,gnomAD |
RCV000412738 | p.Met311Val | missense variant | - | NC_000012.12:g.112477728A>G | ClinVar |
RCV000701867 | p.Met311Val | missense variant | Rasopathy | NC_000012.12:g.112477728A>G | ClinVar |
RCV000719260 | p.Met311Val | missense variant | History of neurodevelopmental disorder | NC_000012.12:g.112477728A>G | ClinVar |
rs774939392 | p.Met311Val | missense variant | - | NC_000012.12:g.112477728A>G | ExAC,gnomAD |
rs1340471856 | p.Pro312Ala | missense variant | - | NC_000012.12:g.112477857C>G | TOPMed |
rs1294377445 | p.Pro312Leu | missense variant | - | NC_000012.12:g.112477858C>T | TOPMed |
COSM6135786 | p.Glu313Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000012.12:g.112477860G>T | NCI-TCGA Cosmic |
RCV000761000 | p.Phe314Leu | missense variant | Astrocytoma | NC_000012.12:g.112477863T>C | ClinVar |
rs968167995 | p.Phe314Leu | missense variant | - | NC_000012.12:g.112477863T>C | - |
rs547041954 | p.Thr316Ile | missense variant | - | NC_000012.12:g.112477870C>T | 1000Genomes,ExAC,gnomAD |
rs747815170 | p.Cys318Tyr | missense variant | - | NC_000012.12:g.112477876G>A | ExAC,gnomAD |
rs1333826013 | p.Asn319Ser | missense variant | - | NC_000012.12:g.112477879A>G | TOPMed |
rs771407775 | p.Asn319Lys | missense variant | - | NC_000012.12:g.112477880C>G | ExAC,TOPMed,gnomAD |
rs1398859175 | p.Asn320Ser | missense variant | - | NC_000012.12:g.112477882A>G | TOPMed |
RCV000625873 | p.Asn320Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112477882A>G | ClinVar |
rs779400765 | p.Pro323Ser | missense variant | - | NC_000012.12:g.112477890C>T | ExAC,TOPMed,gnomAD |
rs779400765 | p.Pro323Thr | missense variant | - | NC_000012.12:g.112477890C>A | ExAC,TOPMed,gnomAD |
rs772684421 | p.Lys324Arg | missense variant | - | NC_000012.12:g.112477894A>G | ExAC,TOPMed,gnomAD |
rs1028787542 | p.Tyr327Cys | missense variant | - | NC_000012.12:g.112477903A>G | TOPMed |
rs369430257 | p.Ile328Thr | missense variant | - | NC_000012.12:g.112477906T>C | ESP,ExAC,TOPMed,gnomAD |
rs760769867 | p.Ala329Thr | missense variant | - | NC_000012.12:g.112477908G>A | ExAC,TOPMed,gnomAD |
rs730880993 | p.Cys333Ser | missense variant | - | NC_000012.12:g.112477920T>A | - |
RCV000159054 | p.Cys333Ser | missense variant | - | NC_000012.12:g.112477920T>A | ClinVar |
rs886041622 | p.Gln335Pro | missense variant | - | NC_000012.12:g.112477927A>C | - |
RCV000792044 | p.Gln335Pro | missense variant | Rasopathy | NC_000012.12:g.112477927A>C | ClinVar |
RCV000377606 | p.Gln335Pro | missense variant | - | NC_000012.12:g.112477927A>C | ClinVar |
rs1373621596 | p.Arg343Trp | missense variant | - | NC_000012.12:g.112477950C>T | TOPMed,gnomAD |
rs535800148 | p.Arg343Gln | missense variant | - | NC_000012.12:g.112477951G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000519427 | p.Arg343Gln | missense variant | Rasopathy | NC_000012.12:g.112477951G>A | ClinVar |
RCV000159507 | p.Arg343Gln | missense variant | - | NC_000012.12:g.112477951G>A | ClinVar |
RCV000619897 | p.Arg343Trp | missense variant | - | NC_000012.12:g.112477950C>T | ClinVar |
NCI-TCGA novel | p.Met344Ile | missense variant | - | NC_000012.12:g.112477955G>A | NCI-TCGA |
rs1317602687 | p.Val345Met | missense variant | - | NC_000012.12:g.112477956G>A | NCI-TCGA |
rs1317602687 | p.Val345Met | missense variant | - | NC_000012.12:g.112477956G>A | TOPMed |
rs1287780991 | p.Glu348Val | missense variant | - | NC_000012.12:g.112477966A>T | gnomAD |
rs1032908020 | p.Asn349Asp | missense variant | - | NC_000012.12:g.112477968A>G | TOPMed,gnomAD |
rs146571700 | p.Ser350Ala | missense variant | - | NC_000012.12:g.112477971T>G | ESP,ExAC,TOPMed,gnomAD |
RCV000763793 | p.Ser350Ala | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112477971T>G | ClinVar |
RCV000033523 | p.Ser350Ala | missense variant | - | NC_000012.12:g.112477971T>G | ClinVar |
RCV000373942 | p.Arg351Gln | missense variant | - | NC_000012.12:g.112477975G>A | ClinVar |
RCV000413347 | p.Arg351Ter | nonsense | - | NC_000012.12:g.112477974C>T | ClinVar |
rs923052172 | p.Arg351Ter | stop gained | - | NC_000012.12:g.112477974C>T | - |
rs397507534 | p.Arg351Gln | missense variant | - | NC_000012.12:g.112477975G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs397507534 | p.Arg351Leu | missense variant | - | NC_000012.12:g.112477975G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs767192602 | p.Val352Leu | missense variant | - | NC_000012.12:g.112477977G>C | ExAC,gnomAD |
rs752392909 | p.Ile353Leu | missense variant | - | NC_000012.12:g.112477980A>C | ExAC,gnomAD |
rs755871216 | p.Thr357Ala | missense variant | - | NC_000012.12:g.112477992A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Thr357Met | missense variant | - | NC_000012.12:g.112477993C>T | NCI-TCGA |
NCI-TCGA novel | p.Lys358Gln | missense variant | - | NC_000012.12:g.112477995A>C | NCI-TCGA |
rs1337767914 | p.Glu361Gln | missense variant | - | NC_000012.12:g.112478004G>C | TOPMed |
NCI-TCGA novel | p.Arg362Lys | missense variant | - | NC_000012.12:g.112478008G>A | NCI-TCGA |
rs988676659 | p.Lys364Arg | missense variant | - | NC_000012.12:g.112478014A>G | TOPMed,gnomAD |
RCV000781776 | p.Ser365Arg | missense variant | - | NC_000012.12:g.112482074A>C | ClinVar |
rs758737605 | p.Val368Ile | missense variant | - | NC_000012.12:g.112482083G>A | ExAC,gnomAD |
rs1555270113 | p.Trp371Ter | stop gained | - | NC_000012.12:g.112482093G>A | - |
RCV000599235 | p.Trp371Ter | nonsense | - | NC_000012.12:g.112482093G>A | ClinVar |
rs1338792040 | p.Asp373Asn | missense variant | - | NC_000012.12:g.112482098G>A | gnomAD |
rs780328721 | p.Glu374Gly | missense variant | - | NC_000012.12:g.112482102A>G | ExAC,gnomAD |
RCV000037606 | p.Tyr375Cys | missense variant | - | NC_000012.12:g.112482105A>G | ClinVar |
rs41299183 | p.Tyr375Cys | missense variant | - | NC_000012.12:g.112482105A>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1444455893 | p.Tyr380Cys | missense variant | - | NC_000012.12:g.112482120A>G | TOPMed |
rs1214510641 | p.Val382Ile | missense variant | - | NC_000012.12:g.112482125G>A | gnomAD |
RCV000733128 | p.Val382Ile | missense variant | - | NC_000012.12:g.112482125G>A | ClinVar |
rs1260386432 | p.Met383Thr | missense variant | - | NC_000012.12:g.112482129T>C | gnomAD |
rs748162361 | p.Arg384Cys | missense variant | - | NC_000012.12:g.112482131C>T | ExAC,TOPMed |
rs748162361 | p.Arg384Cys | missense variant | - | NC_000012.12:g.112482131C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs769798916 | p.Val385Ile | missense variant | - | NC_000012.12:g.112482134G>A | ExAC,gnomAD |
rs749523268 | p.Val388Ile | missense variant | - | NC_000012.12:g.112482143G>A | ExAC,TOPMed,gnomAD |
rs749523268 | p.Val388Ile | missense variant | - | NC_000012.12:g.112482143G>A | NCI-TCGA |
RCV000412775 | p.Val388Ile | missense variant | - | NC_000012.12:g.112482143G>A | ClinVar |
RCV000209886 | p.Ala392Thr | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112482155G>A | ClinVar |
rs774356443 | p.Ala392Thr | missense variant | - | NC_000012.12:g.112482155G>A | ExAC,gnomAD |
rs1214118543 | p.Ala393Thr | missense variant | - | NC_000012.12:g.112482158G>A | gnomAD |
rs1415532476 | p.His394Arg | missense variant | - | NC_000012.12:g.112482162A>G | TOPMed,gnomAD |
RCV000520163 | p.His394Arg | missense variant | - | NC_000012.12:g.112482162A>G | ClinVar |
rs767503386 | p.Thr397Met | missense variant | - | NC_000012.12:g.112482171C>T | ExAC,TOPMed,gnomAD |
RCV000461011 | p.Thr397Met | missense variant | Rasopathy | NC_000012.12:g.112482171C>T | ClinVar |
rs767503386 | p.Thr397Arg | missense variant | - | NC_000012.12:g.112482171C>G | ExAC,TOPMed,gnomAD |
RCV000321441 | p.Thr397Met | missense variant | - | NC_000012.12:g.112482171C>T | ClinVar |
NCI-TCGA novel | p.Glu400Lys | missense variant | - | NC_000012.12:g.112482179G>A | NCI-TCGA |
rs760221298 | p.Val406Ala | missense variant | - | NC_000012.12:g.112482198T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly407TrpPheSerTerUnkUnk | frameshift | - | NC_000012.12:g.112482197_112482198insT | NCI-TCGA |
rs201247699 | p.Gly409Ala | missense variant | - | NC_000012.12:g.112486476G>C | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gly409Trp | missense variant | - | NC_000012.12:g.112486475G>T | NCI-TCGA |
rs121918467 | p.Thr411Met | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112486482C>T | ExAC,TOPMed,gnomAD |
rs121918467 | p.Thr411Met | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112486482C>T | UniProt,dbSNP |
VAR_027189 | p.Thr411Met | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112486482C>T | UniProt |
rs121918467 | p.Thr411Met | missense variant | - | NC_000012.12:g.112486482C>T | NCI-TCGA,NCI-TCGA Cosmic |
rs121918467 | p.Thr411Lys | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112486482C>A | ExAC,TOPMed,gnomAD |
rs761510407 | p.Arg413Lys | missense variant | - | NC_000012.12:g.112486488G>A | ExAC,gnomAD |
RCV000037608 | p.Gly413Ala | missense variant | - | NC_000012.12:g.112486476G>C | ClinVar |
RCV000626827 | p.Gly413Ala | missense variant | - | NC_000012.12:g.112486476G>C | ClinVar |
NCI-TCGA novel | p.Arg413Ile | missense variant | - | NC_000012.12:g.112486488G>T | NCI-TCGA |
rs1193000800 | p.Thr414Met | missense variant | - | NC_000012.12:g.112486491C>T | gnomAD |
RCV000014269 | p.Thr415Met | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112486482C>T | ClinVar |
rs1306943402 | p.His419Tyr | missense variant | - | NC_000012.12:g.112486505C>T | gnomAD |
rs1420362815 | p.Arg421Gln | missense variant | - | NC_000012.12:g.112486512G>A | TOPMed,gnomAD |
rs1355732645 | p.Arg421Trp | missense variant | - | NC_000012.12:g.112486511C>T | TOPMed,gnomAD |
NCI-TCGA novel | p.Pro424Ser | missense variant | - | NC_000012.12:g.112486520C>T | NCI-TCGA |
RCV000587432 | p.Arg425Gln | missense variant | - | NC_000012.12:g.112486512G>A | ClinVar |
RCV000523921 | p.Arg425Trp | missense variant | - | NC_000012.12:g.112486511C>T | ClinVar |
rs727505389 | p.His426Pro | missense variant | - | NC_000012.12:g.112486527A>C | - |
COSM3456263 | p.His426Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112486527A>T | NCI-TCGA Cosmic |
rs397507536 | p.Val428Met | missense variant | - | NC_000012.12:g.112486532G>A | TOPMed,gnomAD |
rs397507536 | p.Val428Met | missense variant | - | NC_000012.12:g.112486532G>A | NCI-TCGA,NCI-TCGA Cosmic |
rs1458141683 | p.Val428Ala | missense variant | - | NC_000012.12:g.112486533T>C | gnomAD |
rs756647576 | p.Pro429Ser | missense variant | - | NC_000012.12:g.112486535C>T | ExAC,gnomAD |
RCV000157022 | p.His430Pro | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112486527A>C | ClinVar |
rs1178602062 | p.Ser430Arg | missense variant | - | NC_000012.12:g.112486540C>A | gnomAD |
RCV000033528 | p.Val432Met | missense variant | - | NC_000012.12:g.112486532G>A | ClinVar |
NCI-TCGA novel | p.Pro432Ser | missense variant | - | NC_000012.12:g.112486544C>T | NCI-TCGA |
rs1054802954 | p.Val435Met | missense variant | - | NC_000012.12:g.112486553G>A | TOPMed,gnomAD |
rs779236638 | p.His443Tyr | missense variant | - | NC_000012.12:g.112486577C>T | ExAC,TOPMed,gnomAD |
RCV000024259 | p.Leu443Ter | frameshift | Metachondromatosis (METCDS) | NC_000012.12:g.112486565del | ClinVar |
RCV000654964 | p.His447Tyr | missense variant | Rasopathy | NC_000012.12:g.112486577C>T | ClinVar |
RCV000306612 | p.His447Tyr | missense variant | - | NC_000012.12:g.112486577C>T | ClinVar |
rs746112827 | p.Ile449Val | missense variant | - | NC_000012.12:g.112486595A>G | ExAC,gnomAD |
rs1165173231 | p.Ala452Ser | missense variant | - | NC_000012.12:g.112486604G>T | gnomAD |
rs1165173231 | p.Ala452Ser | missense variant | - | NC_000012.12:g.112486604G>T | NCI-TCGA |
rs1464947249 | p.Gly453Arg | missense variant | - | NC_000012.12:g.112486607G>C | gnomAD |
rs397516796 | p.Val456Leu | missense variant | - | NC_000012.12:g.112486616G>T | 1000Genomes,ExAC,gnomAD |
rs397516796 | p.Val456Met | missense variant | - | NC_000012.12:g.112486616G>A | 1000Genomes,ExAC,gnomAD |
RCV000722780 | p.Pro458Leu | missense variant | - | NC_000012.12:g.112486611C>T | ClinVar |
rs727504393 | p.His458Gln | missense variant | - | NC_000012.12:g.112486624C>A | - |
RCV000037610 | p.Val460Met | missense variant | - | NC_000012.12:g.112486616G>A | ClinVar |
RCV000461820 | p.Val460Met | missense variant | Rasopathy | NC_000012.12:g.112486616G>A | ClinVar |
rs397509344 | p.Ala461Gly | missense variant | - | NC_000012.12:g.112488445C>G | - |
rs121918468 | p.Ala461Ser | missense variant | - | NC_000012.12:g.112488444G>T | - |
rs121918468 | p.Ala461Thr | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488444G>A | UniProt,dbSNP |
VAR_027190 | p.Ala461Thr | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488444G>A | UniProt |
rs121918468 | p.Ala461Thr | missense variant | - | NC_000012.12:g.112488444G>A | - |
RCV000154559 | p.His462Gln | missense variant | - | NC_000012.12:g.112486624C>A | ClinVar |
COSM935283 | p.Ile463Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112488450A>C | NCI-TCGA Cosmic |
rs121918469 | p.Gly464Ala | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488454G>C | UniProt,dbSNP |
VAR_027191 | p.Gly464Ala | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488454G>C | UniProt |
rs121918469 | p.Gly464Ala | missense variant | - | NC_000012.12:g.112488454G>C | - |
RCV000037611 | p.Ala465Thr | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112488444G>A | ClinVar |
RCV000055882 | p.Ala465Thr | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488444G>A | ClinVar |
RCV000614347 | p.Ala465Gly | missense variant | - | NC_000012.12:g.112488445C>G | ClinVar |
RCV000033529 | p.Ala465Ser | missense variant | - | NC_000012.12:g.112488444G>T | ClinVar |
RCV000529342 | p.Ala465Thr | missense variant | Rasopathy | NC_000012.12:g.112488444G>A | ClinVar |
RCV000033530 | p.Ala465Thr | missense variant | - | NC_000012.12:g.112488444G>A | ClinVar |
RCV000037612 | p.Ala465Ser | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112488444G>T | ClinVar |
RCV000587622 | p.Ala465Thr | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112488444G>A | ClinVar |
NCI-TCGA novel | p.Arg465Trp | missense variant | - | NC_000012.12:g.112488456C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg465Gln | missense variant | - | NC_000012.12:g.112488457G>A | NCI-TCGA |
RCV000033531 | p.Gly468Ala | missense variant | Rasopathy | NC_000012.12:g.112488454G>C | ClinVar |
RCV000077850 | p.Gly468Ala | missense variant | - | NC_000012.12:g.112488454G>C | ClinVar |
RCV000824746 | p.Gly468Ala | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112488454G>C | ClinVar |
rs886039711 | p.Thr468Glu | missense variant | - | NC_000012.12:g.112488465_112488466delinsGA | - |
rs397507537 | p.Thr468Pro | missense variant | - | NC_000012.12:g.112488465A>C | - |
rs121918457 | p.Thr468Met | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488466C>T | UniProt,dbSNP |
VAR_015621 | p.Thr468Met | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488466C>T | UniProt |
rs121918457 | p.Thr468Met | missense variant | - | NC_000012.12:g.112488466C>T | ExAC,gnomAD |
RCV000055883 | p.Gly468Ala | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112488454G>C | ClinVar |
rs779978269 | p.Ile470Val | missense variant | - | NC_000012.12:g.112488471A>G | ExAC,gnomAD |
RCV000033532 | p.Thr472Pro | missense variant | - | NC_000012.12:g.112488465A>C | ClinVar |
RCV000254759 | p.Thr472Glu | missense variant | - | NC_000012.12:g.112488465_112488466delinsGA | ClinVar |
RCV000231162 | p.Thr472Pro | missense variant | Rasopathy | NC_000012.12:g.112488465A>C | ClinVar |
RCV000077851 | p.Thr472Met | missense variant | - | NC_000012.12:g.112488466C>T | ClinVar |
rs1276701553 | p.Ile476Thr | missense variant | - | NC_000012.12:g.112488490T>C | gnomAD |
rs1320374464 | p.Ile478Val | missense variant | - | NC_000012.12:g.112488495A>G | gnomAD |
rs1555270590 | p.Ile479Thr | missense variant | - | NC_000012.12:g.112488499T>C | - |
NCI-TCGA novel | p.Ile479Val | missense variant | - | NC_000012.12:g.112488498A>G | NCI-TCGA |
rs754837922 | p.Arg480Lys | missense variant | - | NC_000012.12:g.112488502G>A | ExAC,gnomAD |
RCV000518952 | p.Ile483Thr | missense variant | - | NC_000012.12:g.112488499T>C | ClinVar |
rs730880994 | p.Asp487Gly | missense variant | - | NC_000012.12:g.112489036A>G | - |
rs781083623 | p.Val490Ile | missense variant | - | NC_000012.12:g.112489044G>A | ExAC,TOPMed,gnomAD |
rs397507539 | p.Pro491Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489047C>T | UniProt,dbSNP |
VAR_071706 | p.Pro491Ser | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489047C>T | UniProt |
rs397507539 | p.Pro491Ser | missense variant | - | NC_000012.12:g.112489047C>T | ExAC,TOPMed,gnomAD |
RCV000159055 | p.Asp491Gly | missense variant | - | NC_000012.12:g.112489036A>G | ClinVar |
rs397507540 | p.Pro491His | missense variant | - | NC_000012.12:g.112489048C>A | - |
rs397507539 | p.Pro491Thr | missense variant | - | NC_000012.12:g.112489047C>A | ExAC,TOPMed,gnomAD |
rs397507539 | p.Pro491Ala | missense variant | - | NC_000012.12:g.112489047C>G | ExAC,TOPMed,gnomAD |
rs397507540 | p.Pro491Leu | missense variant | - | NC_000012.12:g.112489048C>T | - |
RCV000033538 | p.Pro495Leu | missense variant | Rasopathy | NC_000012.12:g.112489048C>T | ClinVar |
RCV000033536 | p.Pro495Ser | missense variant | Rasopathy | NC_000012.12:g.112489047C>T | ClinVar |
RCV000159056 | p.Pro495Ala | missense variant | - | NC_000012.12:g.112489047C>G | ClinVar |
RCV000208219 | p.Pro495Thr | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489047C>A | ClinVar |
RCV000660240 | p.Pro495Thr | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489047C>A | ClinVar |
RCV000254685 | p.Pro495Leu | missense variant | - | NC_000012.12:g.112489048C>T | ClinVar |
RCV000156989 | p.Pro495Leu | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489048C>T | ClinVar |
RCV000033535 | p.Pro495Thr | missense variant | - | NC_000012.12:g.112489047C>A | ClinVar |
RCV000037617 | p.Pro495His | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489048C>A | ClinVar |
RCV000254684 | p.Pro495Ser | missense variant | - | NC_000012.12:g.112489047C>T | ClinVar |
rs756104635 | p.Gln495Glu | missense variant | - | NC_000012.12:g.112489059C>G | ExAC,gnomAD |
RCV000033537 | p.Pro495His | missense variant | - | NC_000012.12:g.112489048C>A | ClinVar |
RCV000157010 | p.Pro495Ser | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489047C>T | ClinVar |
RCV000694590 | p.Pro495Thr | missense variant | Rasopathy | NC_000012.12:g.112489047C>A | ClinVar |
rs397507541 | p.Arg498Trp | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489068C>T | UniProt,dbSNP |
VAR_027193 | p.Arg498Trp | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489068C>T | UniProt |
rs397507541 | p.Arg498Trp | missense variant | - | NC_000012.12:g.112489068C>T | TOPMed,gnomAD |
rs397507542 | p.Arg498Leu | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489069G>T | UniProt,dbSNP |
VAR_027192 | p.Arg498Leu | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489069G>T | UniProt |
rs397507542 | p.Arg498Leu | missense variant | - | NC_000012.12:g.112489069G>T | - |
rs1264992160 | p.Ser499Cys | missense variant | - | NC_000012.12:g.112489072C>G | gnomAD |
rs1173984843 | p.Gln500Arg | missense variant | - | NC_000012.12:g.112489075A>G | TOPMed |
rs397507543 | p.Arg501Lys | missense variant | - | NC_000012.12:g.112489078G>A | - |
rs397507543 | p.Arg501Lys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489078G>A | UniProt,dbSNP |
VAR_015622 | p.Arg501Lys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489078G>A | UniProt |
RCV000055886 | p.Arg502Leu | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489069G>T | ClinVar |
RCV000623675 | p.Arg502Trp | missense variant | Inborn genetic diseases | NC_000012.12:g.112489068C>T | ClinVar |
RCV000824748 | p.Arg502Leu | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489069G>T | ClinVar |
RCV000494687 | p.Arg502Leu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489069G>T | ClinVar |
RCV000722171 | p.Arg502Trp | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489068C>T | ClinVar |
RCV000212896 | p.Arg502Leu | missense variant | - | NC_000012.12:g.112489069G>T | ClinVar |
RCV000033539 | p.Arg502Trp | missense variant | Rasopathy | NC_000012.12:g.112489068C>T | ClinVar |
RCV000626828 | p.Arg502Leu | missense variant | - | NC_000012.12:g.112489069G>T | ClinVar |
RCV000254686 | p.Arg502Trp | missense variant | - | NC_000012.12:g.112489068C>T | ClinVar |
RCV000055885 | p.Arg502Trp | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489068C>T | ClinVar |
RCV000033540 | p.Arg502Leu | missense variant | Rasopathy | NC_000012.12:g.112489069G>T | ClinVar |
RCV000824747 | p.Arg502Trp | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489068C>T | ClinVar |
rs121918458 | p.Ser502Ala | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112489080T>G | - |
rs397507544 | p.Ser502Leu | missense variant | - | NC_000012.12:g.112489081C>T | - |
rs121918458 | p.Ser502Thr | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112489080T>A | - |
rs121918458 | p.Ser502Thr | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489080T>A | UniProt,dbSNP |
VAR_015623 | p.Ser502Thr | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489080T>A | UniProt |
rs397507545 | p.Gly503Arg | missense variant | - | NC_000012.12:g.112489083G>C | gnomAD |
rs397507545 | p.Gly503Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489083G>C | UniProt,dbSNP |
VAR_016003 | p.Gly503Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489083G>C | UniProt |
RCV000781772 | p.Ser503Thr | missense variant | - | NC_000012.12:g.112489071T>A | ClinVar |
rs397507546 | p.Gly503Ala | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112489084G>C | UniProt,dbSNP |
VAR_016002 | p.Gly503Ala | missense variant | Leukemia, juvenile myelomonocytic (JMML) | NC_000012.12:g.112489084G>C | UniProt |
rs397507545 | p.Gly503Arg | missense variant | - | NC_000012.12:g.112489083G>A | gnomAD |
rs1379175668 | p.Met504Ile | missense variant | - | NC_000012.12:g.112489088G>A | gnomAD |
rs397507547 | p.Met504Val | missense variant | - | NC_000012.12:g.112489086A>G | gnomAD |
rs397507547 | p.Met504Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489086A>G | UniProt,dbSNP |
VAR_015624 | p.Met504Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489086A>G | UniProt |
NCI-TCGA novel | p.Met504Ile | missense variant | - | NC_000012.12:g.112489088G>T | NCI-TCGA |
RCV000466382 | p.Arg505Lys | missense variant | Rasopathy | NC_000012.12:g.112489078G>A | ClinVar |
RCV000033541 | p.Arg505Lys | missense variant | - | NC_000012.12:g.112489078G>A | ClinVar |
RCV000037618 | p.Arg505Lys | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489078G>A | ClinVar |
RCV000781773 | p.Ser506Leu | missense variant | Rasopathy | NC_000012.12:g.112489081C>T | ClinVar |
RCV000212897 | p.Ser506Thr | missense variant | - | NC_000012.12:g.112489080T>A | ClinVar |
RCV000156995 | p.Ser506Thr | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489080T>A | ClinVar |
RCV000033543 | p.Ser506Thr | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112489080T>A | ClinVar |
rs397509345 | p.Gln506Pro | missense variant | - | NC_000012.12:g.112489093_112489094delinsCC | - |
rs397509345 | p.Gln506Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489093_112489094delinsCC | UniProt,dbSNP |
VAR_027194 | p.Gln506Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489093_112489094delinsCC | UniProt |
rs387907157 | p.Gln506Ter | stop gained | Metachondromatosis (metcds) | NC_000012.12:g.112489092C>T | - |
rs397507548 | p.Gln506Pro | missense variant | - | NC_000012.12:g.112489093A>C | - |
RCV000033542 | p.Ser506Ala | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112489080T>G | ClinVar |
RCV000212898 | p.Ser506Ala | missense variant | - | NC_000012.12:g.112489080T>G | ClinVar |
RCV000014260 | p.Ser506Thr | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489080T>A | ClinVar |
VAR_027195 | p.Gln506Arg | Missense | Noonan syndrome 1 (NS1) [MIM:163950] | - | UniProt |
RCV000824750 | p.Gly507Arg | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489083G>C | ClinVar |
RCV000157015 | p.Gly507Arg | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489083G>A | ClinVar |
RCV000440091 | p.Gly507Val | missense variant | Adenocarcinoma of stomach | NC_000012.12:g.112489084G>T | ClinVar |
RCV000210040 | p.Gly507Arg | missense variant | - | NC_000012.12:g.112489083G>C | ClinVar |
RCV000033548 | p.Gly507Glu | missense variant | - | NC_000012.12:g.112489084G>A | ClinVar |
RCV000033546 | p.Gly507Arg | missense variant | Rasopathy | NC_000012.12:g.112489083G>A | ClinVar |
RCV000515165 | p.Gly507Arg | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112489083G>C | ClinVar |
RCV000430281 | p.Gly507Val | missense variant | Lung adenocarcinoma | NC_000012.12:g.112489084G>T | ClinVar |
RCV000429259 | p.Gly507Val | missense variant | Multiple myeloma (MM) | NC_000012.12:g.112489084G>T | ClinVar |
RCV000618529 | p.Gly507Arg | missense variant | - | NC_000012.12:g.112489083G>A | ClinVar |
RCV000439943 | p.Gly507Val | missense variant | Neoplasm of the large intestine | NC_000012.12:g.112489084G>T | ClinVar |
RCV000156971 | p.Gly507Arg | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112489083G>C | ClinVar |
RCV000660241 | p.Gly507Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489083G>A | ClinVar |
RCV000149849 | p.Gly507Ala | missense variant | Rasopathy | NC_000012.12:g.112489084G>C | ClinVar |
rs886039463 | p.Thr507Lys | missense variant | - | NC_000012.12:g.112489096C>A | - |
RCV000033545 | p.Gly507Arg | missense variant | Rasopathy | NC_000012.12:g.112489083G>C | ClinVar |
RCV000077852 | p.Gly507Arg | missense variant | - | NC_000012.12:g.112489083G>A | ClinVar |
RCV000824749 | p.Gly507Arg | missense variant | Juvenile myelomonocytic leukemia (JMML) | NC_000012.12:g.112489083G>A | ClinVar |
RCV000762886 | p.Gly507Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489083G>A | ClinVar |
RCV000419381 | p.Gly507Val | missense variant | Squamous cell lung carcinoma | NC_000012.12:g.112489084G>T | ClinVar |
RCV000692146 | p.Gly507Arg | missense variant | Rasopathy | NC_000012.12:g.112489082_112489083delinsCC | ClinVar |
RCV000677652 | p.Met508Val | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489086A>G | ClinVar |
rs121918470 | p.Gln510Pro | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112489105A>C | ExAC,TOPMed,gnomAD |
RCV000024258 | p.Gln510Ter | nonsense | Metachondromatosis (METCDS) | NC_000012.12:g.112489092C>T | ClinVar |
RCV000055887 | p.Gln510Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489093A>C | ClinVar |
rs121918470 | p.Gln510Arg | missense variant | - | NC_000012.12:g.112489105A>G | ExAC,TOPMed,gnomAD |
COSM1948766 | p.Gln510His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112489106G>T | NCI-TCGA Cosmic |
COSM1318059 | p.Gln510Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112489105A>T | NCI-TCGA Cosmic |
RCV000154371 | p.Gln510Pro | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489093A>C | ClinVar |
RCV000033550 | p.Gln510Pro | missense variant | Rasopathy | NC_000012.12:g.112489093A>C | ClinVar |
rs121918470 | p.Gln510Pro | missense variant | - | NC_000012.12:g.112489105A>C | ExAC,TOPMed,gnomAD |
rs397507550 | p.Gln510His | missense variant | - | NC_000012.12:g.112489106G>C | TOPMed,gnomAD |
rs121918470 | p.Gln510Arg | missense variant | Noonan syndrome 1 (ns1) | NC_000012.12:g.112489105A>G | ExAC,TOPMed,gnomAD |
rs121918470 | p.Gln510Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489105A>C | UniProt,dbSNP |
VAR_027196 | p.Gln510Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489105A>C | UniProt |
rs397507549 | p.Gln510Glu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489104C>G | UniProt,dbSNP |
VAR_076499 | p.Gln510Glu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489104C>G | UniProt |
rs397507549 | p.Gln510Glu | missense variant | - | NC_000012.12:g.112489104C>G | - |
RCV000049230 | p.Gln510Pro | missense variant | Rasopathy | NC_000012.12:g.112489093_112489094delinsCC | ClinVar |
RCV000157683 | p.Gln510Pro | missense variant | - | NC_000012.12:g.112489093A>C | ClinVar |
RCV000255951 | p.Thr511Lys | missense variant | - | NC_000012.12:g.112489096C>A | ClinVar |
COSM1358901 | p.Arg512Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112489111G>A | NCI-TCGA Cosmic |
RCV000589512 | p.Gln514Glu | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112489104C>G | ClinVar |
RCV000679882 | p.Gln514Glu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489104C>G | ClinVar |
RCV000210041 | p.Gln514Glu | missense variant | - | NC_000012.12:g.112489104C>G | ClinVar |
RCV000077854 | p.Gln514His | missense variant | - | NC_000012.12:g.112489106G>C | ClinVar |
RCV000619738 | p.Gln514Glu | missense variant | - | NC_000012.12:g.112489104C>G | ClinVar |
RCV000033554 | p.Gln514Pro | missense variant | Rasopathy | NC_000012.12:g.112489105A>C | ClinVar |
RCV000033553 | p.Gln514Glu | missense variant | Rasopathy | NC_000012.12:g.112489104C>G | ClinVar |
RCV000824752 | p.Gln514Pro | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489105A>C | ClinVar |
RCV000586289 | p.Gln514Pro | missense variant | Noonan syndrome 3 (NS3) | NC_000012.12:g.112489105A>C | ClinVar |
RCV000210036 | p.Gln514Pro | missense variant | - | NC_000012.12:g.112489105A>C | ClinVar |
RCV000014273 | p.Gln514Arg | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489105A>G | ClinVar |
RCV000520822 | p.Gln514Pro | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489105A>C | ClinVar |
RCV000055888 | p.Gln514Glu | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489104C>G | ClinVar |
RCV000824751 | p.Gln514Glu | missense variant | Noonan syndrome with multiple lentigines (NSML) | NC_000012.12:g.112489104C>G | ClinVar |
RCV000414743 | p.Gln514Arg | missense variant | - | NC_000012.12:g.112489105A>G | ClinVar |
RCV000014272 | p.Gln514Pro | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489105A>C | ClinVar |
rs773825880 | p.Met516Val | missense variant | - | NC_000012.12:g.112489122A>G | ExAC |
rs994514579 | p.Met516Thr | missense variant | - | NC_000012.12:g.112489123T>C | gnomAD |
rs1488010874 | p.Val518Phe | missense variant | - | NC_000012.12:g.112489128G>T | TOPMed |
rs1365861378 | p.Ile522Val | missense variant | - | NC_000012.12:g.112489140A>G | gnomAD |
rs1389060443 | p.Glu523Gly | missense variant | - | NC_000012.12:g.112489144A>G | gnomAD |
rs777116808 | p.Gln526His | missense variant | - | NC_000012.12:g.112489154G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gln526His | missense variant | - | NC_000012.12:g.112489154G>T | NCI-TCGA |
rs770363146 | p.Arg527His | missense variant | - | NC_000012.12:g.112489156G>A | ExAC,gnomAD |
rs191525506 | p.Arg527Cys | missense variant | - | NC_000012.12:g.112489155C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
RCV000681078 | p.Glu527Asp | missense variant | - | NC_000012.12:g.112489145A>C | ClinVar |
RCV000577961 | p.Arg531Cys | missense variant | LEOPARD syndrome 1 (LPRD1) | NC_000012.12:g.112489155C>T | ClinVar |
RCV000578039 | p.Arg531Cys | missense variant | Metachondromatosis (METCDS) | NC_000012.12:g.112489155C>T | ClinVar |
RCV000578115 | p.Arg531Cys | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112489155C>T | ClinVar |
rs587778634 | p.Glu532Lys | missense variant | - | NC_000012.12:g.112489170G>A | ExAC,TOPMed,gnomAD |
RCV000121910 | p.Glu536Lys | missense variant | - | NC_000012.12:g.112489170G>A | ClinVar |
rs1415569303 | p.Arg537Lys | missense variant | - | NC_000012.12:g.112502154G>A | gnomAD |
rs994138881 | p.Gly539Trp | missense variant | - | NC_000012.12:g.112502159G>T | TOPMed |
NCI-TCGA novel | p.Gly539Arg | missense variant | - | NC_000012.12:g.112502159G>C | NCI-TCGA |
COSM4038885 | p.Glu541Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112502167A>C | NCI-TCGA Cosmic |
rs186919241 | p.Glu541Lys | missense variant | - | NC_000012.12:g.112502165G>A | 1000Genomes,ExAC |
rs186919241 | p.Glu541Lys | missense variant | - | NC_000012.12:g.112502165G>A | NCI-TCGA,NCI-TCGA Cosmic |
NCI-TCGA novel | p.Glu541Gln | missense variant | - | NC_000012.12:g.112502165G>C | NCI-TCGA |
NCI-TCGA novel | p.Glu541Val | missense variant | - | NC_000012.12:g.112502166A>T | NCI-TCGA |
rs1057520397 | p.Thr543Ile | missense variant | - | NC_000012.12:g.112502172C>T | - |
NCI-TCGA novel | p.Asn544Thr | missense variant | - | NC_000012.12:g.112502175A>C | NCI-TCGA |
COSM1318057 | p.Ile545Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112502177A>C | NCI-TCGA Cosmic |
RCV000424480 | p.Thr547Ile | missense variant | - | NC_000012.12:g.112502172C>T | ClinVar |
rs1057517907 | p.Ser548Pro | missense variant | - | NC_000012.12:g.112502186T>C | TOPMed,gnomAD |
rs759551230 | p.Ser548Cys | missense variant | - | NC_000012.12:g.112502187C>G | ExAC,gnomAD |
rs767712281 | p.Ala550Val | missense variant | - | NC_000012.12:g.112502193C>T | ExAC,TOPMed,gnomAD |
COSM6071395 | p.Asp551Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112502195G>A | NCI-TCGA Cosmic |
RCV000413414 | p.Ser552Pro | missense variant | - | NC_000012.12:g.112502186T>C | ClinVar |
rs148176616 | p.Thr553Lys | missense variant | - | NC_000012.12:g.112502202C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs148176616 | p.Thr553Met | missense variant | - | NC_000012.12:g.112502202C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1555271397 | p.Ser554Asn | missense variant | - | NC_000012.12:g.112502205G>A | - |
RCV000271291 | p.Ala554Val | missense variant | - | NC_000012.12:g.112502193C>T | ClinVar |
COSM935285 | p.Gly555Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112502208G>A | NCI-TCGA Cosmic |
RCV000156990 | p.Thr557Met | missense variant | Noonan syndrome (NS) | NC_000012.12:g.112502202C>T | ClinVar |
rs763926088 | p.Gln557Arg | missense variant | - | NC_000012.12:g.112502214A>G | ExAC,gnomAD |
rs1024227490 | p.Gln557Lys | missense variant | - | NC_000012.12:g.112502213C>A | gnomAD |
rs753741561 | p.Gln557His | missense variant | - | NC_000012.12:g.112502215G>C | ExAC,TOPMed,gnomAD |
RCV000658375 | p.Ser558Asn | missense variant | - | NC_000012.12:g.112502205G>A | ClinVar |
rs1253971623 | p.Pro559Arg | missense variant | - | NC_000012.12:g.112502220C>G | TOPMed |
rs1060502526 | p.Pro559Ser | missense variant | - | NC_000012.12:g.112502219C>T | - |
rs397516797 | p.Leu560Phe | missense variant | - | NC_000012.12:g.112502222C>T | ExAC,TOPMed,gnomAD |
rs397516797 | p.Leu560Phe | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112502222C>T | UniProt,dbSNP |
VAR_027197 | p.Leu560Phe | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112502222C>T | UniProt |
rs141140214 | p.Pro561Leu | missense variant | - | NC_000012.12:g.112502226C>T | ESP,ExAC,TOPMed,gnomAD |
COSM3456266 | p.Cys563Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112502232G>T | NCI-TCGA Cosmic |
RCV000700110 | p.Pro563Arg | missense variant | Rasopathy | NC_000012.12:g.112502220C>G | ClinVar |
rs1238697234 | p.Cys563Tyr | missense variant | - | NC_000012.12:g.112502232G>A | gnomAD |
RCV000467826 | p.Pro563Ser | missense variant | Rasopathy | NC_000012.12:g.112502219C>T | ClinVar |
rs779810329 | p.Thr564Ser | missense variant | - | NC_000012.12:g.112502234A>T | ExAC,TOPMed,gnomAD |
RCV000159057 | p.Leu564Phe | missense variant | Rasopathy | NC_000012.12:g.112502222C>T | ClinVar |
RCV000515184 | p.Pro565Leu | missense variant | Noonan syndrome 1 (NS1) | NC_000012.12:g.112502226C>T | ClinVar |
RCV000690056 | p.Pro565Leu | missense variant | Rasopathy | NC_000012.12:g.112502226C>T | ClinVar |
rs1315318035 | p.Pro565Gln | missense variant | - | NC_000012.12:g.112502238C>A | TOPMed |
rs746712068 | p.Thr566Ala | missense variant | - | NC_000012.12:g.112502240A>G | ExAC,TOPMed,gnomAD |
rs746712068 | p.Thr566Ser | missense variant | - | NC_000012.12:g.112502240A>T | ExAC,TOPMed,gnomAD |
rs150730493 | p.Thr566Met | missense variant | - | NC_000012.12:g.112502241C>T | ESP,ExAC,TOPMed,gnomAD |
rs1420924484 | p.Cys569Arg | missense variant | - | NC_000012.12:g.112502249T>C | gnomAD |
RCV000033559 | p.Thr570Met | missense variant | - | NC_000012.12:g.112502241C>T | ClinVar |
rs1415602777 | p.Met572Thr | missense variant | - | NC_000012.12:g.112504697T>C | TOPMed |
rs397516799 | p.Asp575Gly | missense variant | - | NC_000012.12:g.112504706A>G | - |
rs781006724 | p.Ser576Asn | missense variant | - | NC_000012.12:g.112504709G>A | ExAC |
NCI-TCGA novel | p.Ser576Ile | missense variant | - | NC_000012.12:g.112504709G>T | NCI-TCGA |
rs567223058 | p.Ala577Thr | missense variant | - | NC_000012.12:g.112504711G>A | 1000Genomes,ExAC,gnomAD |
rs757593532 | p.Arg578Ile | missense variant | - | NC_000012.12:g.112504715G>T | ExAC |
NCI-TCGA novel | p.Arg578Ter | stop gained | - | NC_000012.12:g.112504714A>T | NCI-TCGA |
RCV000037625 | p.Asp579Gly | missense variant | - | NC_000012.12:g.112504706A>G | ClinVar |
rs746410911 | p.Val579Ile | missense variant | - | NC_000012.12:g.112504717G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Val579Gly | missense variant | - | NC_000012.12:g.112504718T>G | NCI-TCGA |
rs963465148 | p.Val583Met | missense variant | - | NC_000012.12:g.112504729G>A | TOPMed |
rs1283260430 | p.Gln588Arg | missense variant | - | NC_000012.12:g.112504745A>G | TOPMed,gnomAD |
COSM263160 | p.Gln588His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000012.12:g.112504746G>T | NCI-TCGA Cosmic |
rs768805690 | p.Gln589Arg | missense variant | - | NC_000012.12:g.112504748A>G | ExAC,gnomAD |
rs1205297900 | p.Arg593Gly | missense variant | - | NC_000012.12:g.112504759A>G | gnomAD |