rs758042017 | p.Arg3Gln | missense variant | - | NC_000017.11:g.8176279C>T | ExAC,gnomAD |
rs758042017 | p.Arg3Pro | missense variant | - | NC_000017.11:g.8176279C>G | ExAC,gnomAD |
rs1158816213 | p.Gly6Arg | missense variant | - | NC_000017.11:g.8176271C>T | TOPMed |
rs746705243 | p.Pro9His | missense variant | - | NC_000017.11:g.8176261G>T | TOPMed,gnomAD |
rs746705243 | p.Pro9Leu | missense variant | - | NC_000017.11:g.8176261G>A | TOPMed,gnomAD |
rs779192623 | p.Pro9Ser | missense variant | - | NC_000017.11:g.8176262G>A | ExAC,TOPMed,gnomAD |
rs746705243 | p.Pro9Arg | missense variant | - | NC_000017.11:g.8176261G>C | TOPMed,gnomAD |
rs764486156 | p.Arg11His | missense variant | - | NC_000017.11:g.8176255C>T | ExAC,gnomAD |
rs756257026 | p.Phe12Leu | missense variant | - | NC_000017.11:g.8176251G>T | ExAC,TOPMed,gnomAD |
rs1172454509 | p.Thr14Met | missense variant | - | NC_000017.11:g.8176246G>A | gnomAD |
rs752816091 | p.Ala17Thr | missense variant | - | NC_000017.11:g.8176238C>T | ExAC,gnomAD |
rs759772085 | p.Leu25Ter | stop gained | - | NC_000017.11:g.8176213A>T | ExAC,TOPMed,gnomAD |
rs759772085 | p.Leu25Ser | missense variant | - | NC_000017.11:g.8176213A>G | ExAC,TOPMed,gnomAD |
rs991836698 | p.Phe26Leu | missense variant | - | NC_000017.11:g.8176209G>C | TOPMed,gnomAD |
rs1178144948 | p.Phe26Ile | missense variant | - | NC_000017.11:g.8176211A>T | gnomAD |
rs765044785 | p.Trp27Ser | missense variant | - | NC_000017.11:g.8176207C>G | ExAC,gnomAD |
rs553369646 | p.Arg29Gly | missense variant | - | NC_000017.11:g.8176202G>C | 1000Genomes,ExAC,gnomAD |
rs776684584 | p.Arg29Pro | missense variant | - | NC_000017.11:g.8176201C>G | ExAC,TOPMed,gnomAD |
rs752678483 | p.Asp30Glu | missense variant | - | NC_000017.11:g.8176024G>C | ExAC,TOPMed,gnomAD |
rs1049214287 | p.Asp30Asn | missense variant | - | NC_000017.11:g.8176026C>T | TOPMed,gnomAD |
rs767410741 | p.Gln34His | missense variant | - | NC_000017.11:g.8176012C>G | ExAC,TOPMed,gnomAD |
rs1392368949 | p.Gln34Ter | stop gained | - | NC_000017.11:g.8176014G>A | gnomAD |
rs1466090000 | p.Cys36Ter | stop gained | - | NC_000017.11:g.8176006G>T | gnomAD |
rs759112528 | p.Pro38Leu | missense variant | - | NC_000017.11:g.8176001G>A | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu39Val | missense variant | - | NC_000017.11:g.8175999G>C | NCI-TCGA |
rs762443312 | p.Thr40Met | missense variant | - | NC_000017.11:g.8175995G>A | ExAC,TOPMed,gnomAD |
rs569789530 | p.Thr40Ser | missense variant | - | NC_000017.11:g.8175996T>A | 1000Genomes,ExAC,gnomAD |
rs1220984648 | p.Pro43Leu | missense variant | - | NC_000017.11:g.8175986G>A | TOPMed |
rs770238344 | p.Pro43Thr | missense variant | - | NC_000017.11:g.8175987G>T | ExAC,TOPMed,gnomAD |
COSM986190 | p.Glu44Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.8175982C>A | NCI-TCGA Cosmic |
rs1555526172 | p.Glu45Gly | missense variant | - | NC_000017.11:g.8175980T>C | - |
rs1555526172 | p.Glu45Gly | missense variant | Orofaciodigital syndrome 16 (OFD16) | NC_000017.11:g.8175980T>C | UniProt,dbSNP |
VAR_079328 | p.Glu45Gly | missense variant | Orofaciodigital syndrome 16 (OFD16) | NC_000017.11:g.8175980T>C | UniProt |
rs1261826107 | p.Glu45Lys | missense variant | - | NC_000017.11:g.8175981C>T | TOPMed |
RCV000495828 | p.Glu45Gly | missense variant | OROFACIODIGITAL SYNDROME XVI (OFD16) | NC_000017.11:g.8175980T>C | ClinVar |
rs747145199 | p.Tyr46Ter | stop gained | - | NC_000017.11:g.8175976A>C | ExAC,gnomAD |
rs1430166494 | p.Tyr46Cys | missense variant | - | NC_000017.11:g.8175977T>C | TOPMed,gnomAD |
rs1201413781 | p.Lys48Asn | missense variant | - | NC_000017.11:g.8175970C>G | TOPMed |
rs779940342 | p.Lys48Arg | missense variant | - | NC_000017.11:g.8175971T>C | ExAC,gnomAD |
rs377543068 | p.Asp50His | missense variant | - | NC_000017.11:g.8175966C>G | ESP |
rs1314276935 | p.Ile51Thr | missense variant | - | NC_000017.11:g.8175962A>G | gnomAD |
rs143165118 | p.Leu53Pro | missense variant | - | NC_000017.11:g.8175855A>G | ESP,TOPMed |
rs1241028740 | p.Leu53Met | missense variant | - | NC_000017.11:g.8175856G>T | gnomAD |
rs892821655 | p.Ala55Val | missense variant | - | NC_000017.11:g.8175849G>A | TOPMed |
rs745927685 | p.Ala56Gly | missense variant | - | NC_000017.11:g.8175846G>C | ExAC,TOPMed,gnomAD |
COSM708547 | p.Ala56Ser | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.8175847C>A | NCI-TCGA Cosmic |
rs1397722725 | p.Thr60Ile | missense variant | - | NC_000017.11:g.8175834G>A | gnomAD |
rs780895688 | p.Gly62Val | missense variant | - | NC_000017.11:g.8175828C>A | ExAC,gnomAD |
rs747945881 | p.Gly62Ser | missense variant | - | NC_000017.11:g.8175829C>T | ExAC,TOPMed,gnomAD |
rs1203000720 | p.Val66Met | missense variant | - | NC_000017.11:g.8175817C>T | TOPMed |
rs1488298029 | p.Leu68Arg | missense variant | - | NC_000017.11:g.8175810A>C | TOPMed |
rs979857583 | p.Leu68Val | missense variant | - | NC_000017.11:g.8175811G>C | TOPMed |
rs766320339 | p.Ala69Asp | missense variant | - | NC_000017.11:g.8175807G>T | ExAC,gnomAD |
rs765045090 | p.Gly70Cys | missense variant | - | NC_000017.11:g.8175805C>A | ExAC,gnomAD |
rs761499511 | p.Gly70Asp | missense variant | - | NC_000017.11:g.8175804C>T | ExAC,gnomAD |
rs765045090 | p.Gly70Ser | missense variant | - | NC_000017.11:g.8175805C>T | ExAC,gnomAD |
rs1416997604 | p.Leu72Phe | missense variant | - | NC_000017.11:g.8175799G>A | gnomAD |
rs969768247 | p.Ser73Leu | missense variant | - | NC_000017.11:g.8175795G>A | TOPMed |
NCI-TCGA novel | p.Gly74Ter | stop gained | - | NC_000017.11:g.8175793C>A | NCI-TCGA |
rs1024416036 | p.Val75Ile | missense variant | - | NC_000017.11:g.8175790C>T | TOPMed |
rs1379136806 | p.Asn79Ser | missense variant | - | NC_000017.11:g.8175777T>C | TOPMed |
rs139253975 | p.Ser83Gly | missense variant | - | NC_000017.11:g.8175766T>C | ESP,ExAC,TOPMed,gnomAD |
rs1350125374 | p.Ile85Thr | missense variant | - | NC_000017.11:g.8175759A>G | gnomAD |
rs752106357 | p.Ile87Thr | missense variant | - | NC_000017.11:g.8174613A>G | ExAC,TOPMed,gnomAD |
rs755459310 | p.Ile87Val | missense variant | - | NC_000017.11:g.8174614T>C | ExAC,gnomAD |
rs766838320 | p.Ala89Val | missense variant | - | NC_000017.11:g.8174607G>A | ExAC,gnomAD |
rs1263560335 | p.Cys91Tyr | missense variant | - | NC_000017.11:g.8174601C>T | TOPMed |
rs763090139 | p.Ser92Asn | missense variant | - | NC_000017.11:g.8174598C>T | ExAC,gnomAD |
rs1365234036 | p.Ser94Thr | missense variant | - | NC_000017.11:g.8174593A>T | TOPMed,gnomAD |
rs1408799401 | p.Ser94Phe | missense variant | - | NC_000017.11:g.8174592G>A | gnomAD |
rs765395687 | p.Val95Gly | missense variant | - | NC_000017.11:g.8174589A>C | ExAC,gnomAD |
rs762032078 | p.Ala96Val | missense variant | - | NC_000017.11:g.8174586G>A | ExAC,TOPMed,gnomAD |
rs1023372990 | p.Ala96Thr | missense variant | - | NC_000017.11:g.8174587C>T | TOPMed |
rs1485211497 | p.Ser98Phe | missense variant | - | NC_000017.11:g.8174580G>A | gnomAD |
NCI-TCGA novel | p.Phe99Leu | missense variant | - | NC_000017.11:g.8174576G>T | NCI-TCGA |
VAR_079329 | p.Phe100del | inframe_deletion | Orofaciodigital syndrome 16 (OFD16) [MIM:617563] | - | UniProt |
VAR_079329 | p.Phe100del | inframe_deletion | Meckel syndrome 13 (MKS13) [MIM:617562] | - | UniProt |
rs775179939 | p.Phe102Leu | missense variant | - | NC_000017.11:g.8174567G>T | ExAC,TOPMed,gnomAD |
COSM4852818 | p.Glu103Gln | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.8174566C>G | NCI-TCGA Cosmic |
rs538821271 | p.Arg104Gly | missense variant | - | NC_000017.11:g.8174563G>C | 1000Genomes,ExAC,gnomAD |
rs538821271 | p.Arg104Ser | missense variant | - | NC_000017.11:g.8174563G>T | 1000Genomes,ExAC,gnomAD |
rs1368021784 | p.Arg104Pro | missense variant | - | NC_000017.11:g.8174562C>G | TOPMed |
rs1368021784 | p.Arg104His | missense variant | - | NC_000017.11:g.8174562C>T | TOPMed |
NCI-TCGA novel | p.Trp105Ter | stop gained | - | NC_000017.11:g.8174558C>T | NCI-TCGA |
rs745637850 | p.Glu106Asp | missense variant | - | NC_000017.11:g.8174555C>G | ExAC,gnomAD |
COSM4070948 | p.Cys107Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.8174554A>G | NCI-TCGA Cosmic |
rs1371849426 | p.Thr109Met | missense variant | - | NC_000017.11:g.8174547G>A | gnomAD |
rs770976637 | p.Tyr112Ter | stop gained | - | NC_000017.11:g.8174537G>T | ExAC,TOPMed,gnomAD |
rs1203515924 | p.Ala119Gly | missense variant | - | NC_000017.11:g.8174270G>C | gnomAD |
rs1415518421 | p.Ala122Thr | missense variant | - | NC_000017.11:g.8174262C>T | gnomAD |
rs761706473 | p.Glu125Val | missense variant | - | NC_000017.11:g.8174252T>A | ExAC,gnomAD |
rs1261556427 | p.Ala127Thr | missense variant | - | NC_000017.11:g.8174247C>T | TOPMed,gnomAD |
RCV000495830 | p.Leu128Ter | frameshift | Meckel syndrome 13 (MKS13) | NC_000017.11:g.8174242del | ClinVar |
rs747577985 | p.Val130Ile | missense variant | - | NC_000017.11:g.8174238C>T | ExAC,gnomAD |
rs747577985 | p.Val130Leu | missense variant | - | NC_000017.11:g.8174238C>G | ExAC,gnomAD |
rs780962917 | p.Val132Leu | missense variant | - | NC_000017.11:g.8174232C>G | ExAC,TOPMed,gnomAD |
rs780962917 | p.Val132Ile | missense variant | - | NC_000017.11:g.8174232C>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Leu135Pro | missense variant | - | NC_000017.11:g.8174222A>G | NCI-TCGA |
rs1212456331 | p.Lys136Gln | missense variant | - | NC_000017.11:g.8174220T>G | gnomAD |
rs780331583 | p.Lys137Glu | missense variant | - | NC_000017.11:g.8174217T>C | ExAC,gnomAD |
rs750897292 | p.Lys137Asn | missense variant | - | NC_000017.11:g.8174215C>A | ExAC,TOPMed,gnomAD |
rs758934871 | p.Lys137Arg | missense variant | - | NC_000017.11:g.8174216T>C | ExAC,TOPMed,gnomAD |
rs779269009 | p.Pro139Arg | missense variant | - | NC_000017.11:g.8174210G>C | ExAC,gnomAD |
rs757401163 | p.Phe140Leu | missense variant | - | NC_000017.11:g.8174206G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Phe140Leu | missense variant | - | NC_000017.11:g.8174206G>C | NCI-TCGA |
rs371112854 | p.Ter141Trp | stop lost | - | NC_000017.11:g.8174203T>C | ESP,ExAC |
NCI-TCGA novel | p.Ter141ArgGluUnkThrTerUnk | stop lost | - | NC_000017.11:g.8174205A>G | NCI-TCGA |