rs1479987082 | p.Asn2Lys | missense variant | - | NC_000017.11:g.72121397T>A | gnomAD |
rs768210143 | p.Asp5Glu | missense variant | - | NC_000017.11:g.72121406C>G | ExAC,gnomAD |
rs866679165 | p.Pro6Ser | missense variant | - | NC_000017.11:g.72121407C>T | TOPMed,gnomAD |
rs1221846522 | p.Met8Leu | missense variant | - | NC_000017.11:g.72121413A>C | TOPMed |
rs1452893426 | p.Met8Ile | missense variant | - | NC_000017.11:g.72121415G>A | TOPMed |
rs1244512563 | p.Thr11Asn | missense variant | - | NC_000017.11:g.72121423C>A | TOPMed |
rs1287145712 | p.Thr11Ala | missense variant | - | NC_000017.11:g.72121422A>G | TOPMed |
rs1478425968 | p.Glu13Lys | missense variant | - | NC_000017.11:g.72121428G>A | TOPMed,gnomAD |
rs1172992469 | p.Glu13Asp | missense variant | - | NC_000017.11:g.72121430G>C | TOPMed,gnomAD |
rs1172992469 | p.Glu13Asp | missense variant | - | NC_000017.11:g.72121430G>T | TOPMed,gnomAD |
rs772903403 | p.Glu15Lys | missense variant | - | NC_000017.11:g.72121434G>A | ExAC,gnomAD |
rs1404583942 | p.Lys16Arg | missense variant | - | NC_000017.11:g.72121438A>G | TOPMed,gnomAD |
rs1404583942 | p.Lys16Met | missense variant | - | NC_000017.11:g.72121438A>T | TOPMed,gnomAD |
rs762942282 | p.Gly17Val | missense variant | - | NC_000017.11:g.72121441G>T | ExAC,TOPMed,gnomAD |
rs770996719 | p.Leu18Arg | missense variant | - | NC_000017.11:g.72121444T>G | ExAC,TOPMed,gnomAD |
rs775652942 | p.Ser19Phe | missense variant | - | NC_000017.11:g.72121447C>T | ExAC,gnomAD |
rs1276160255 | p.Gly20Ala | missense variant | - | NC_000017.11:g.72121450G>C | gnomAD |
rs193920972 | p.Ala21Thr | missense variant | - | NC_000017.11:g.72121452G>A | - |
RCV000148999 | p.Ala21Thr | missense variant | Malignant tumor of prostate | NC_000017.11:g.72121452G>A | ClinVar |
rs760834344 | p.Pro22Arg | missense variant | - | NC_000017.11:g.72121456C>G | ExAC,gnomAD |
rs1019580760 | p.Pro22Ser | missense variant | - | NC_000017.11:g.72121455C>T | TOPMed,gnomAD |
COSM4729206 | p.Ser23AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121453C>- | NCI-TCGA Cosmic |
COSM1385620 | p.Thr25ProPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121459_72121460insCC | NCI-TCGA Cosmic |
rs575451633 | p.Met26Val | missense variant | - | NC_000017.11:g.72121467A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1482055922 | p.Met26Ile | missense variant | - | NC_000017.11:g.72121469G>A | gnomAD |
VAR_078490 | p.Glu28_Pro509del | inframe_deletion | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
rs1371768776 | p.Asp29Ala | missense variant | - | NC_000017.11:g.72121477A>C | TOPMed |
rs1003847603 | p.Ser30Cys | missense variant | - | NC_000017.11:g.72121480C>G | TOPMed |
COSM1385621 | p.Ala31Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121483C>T | NCI-TCGA Cosmic |
rs1257248748 | p.Ala31Thr | missense variant | - | NC_000017.11:g.72121482G>A | gnomAD |
rs1257248748 | p.Ala31Ser | missense variant | - | NC_000017.11:g.72121482G>T | gnomAD |
rs1417947256 | p.Gly32Asp | missense variant | - | NC_000017.11:g.72121486G>A | gnomAD |
rs1196498041 | p.Gly32Arg | missense variant | - | NC_000017.11:g.72121485G>C | gnomAD |
COSM6147418 | p.Cys35Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121496C>A | NCI-TCGA Cosmic |
rs765600450 | p.Pro36Arg | missense variant | - | NC_000017.11:g.72121498C>G | ExAC,gnomAD |
rs1433090383 | p.Pro36Ser | missense variant | - | NC_000017.11:g.72121497C>T | gnomAD |
rs765600450 | p.Pro36Gln | missense variant | - | NC_000017.11:g.72121498C>A | ExAC,gnomAD |
rs758848875 | p.Thr43Ala | missense variant | - | NC_000017.11:g.72121518A>G | ExAC,gnomAD |
rs780529883 | p.Thr43Ile | missense variant | - | NC_000017.11:g.72121519C>T | ExAC,gnomAD |
rs1386891071 | p.Thr46Arg | missense variant | - | NC_000017.11:g.72121528C>G | gnomAD |
rs1310139412 | p.Arg47Trp | missense variant | - | NC_000017.11:g.72121530C>T | gnomAD |
rs752124347 | p.Arg47Leu | missense variant | - | NC_000017.11:g.72121531G>T | ExAC,TOPMed,gnomAD |
rs780613069 | p.Pro48Leu | missense variant | - | NC_000017.11:g.72121534C>T | ExAC,gnomAD |
rs754474934 | p.Pro48Thr | missense variant | - | NC_000017.11:g.72121533C>A | ExAC,TOPMed,gnomAD |
rs1203855459 | p.Gln49His | missense variant | - | NC_000017.11:g.72121538G>C | gnomAD |
rs1276737891 | p.Gln49Arg | missense variant | - | NC_000017.11:g.72121537A>G | TOPMed |
rs969167599 | p.Asn51Ser | missense variant | - | NC_000017.11:g.72121543A>G | TOPMed |
rs1485820060 | p.Thr52Arg | missense variant | - | NC_000017.11:g.72121546C>G | gnomAD |
NCI-TCGA novel | p.Phe53Leu | missense variant | - | NC_000017.11:g.72121550C>A | NCI-TCGA |
rs1269568418 | p.Pro54Thr | missense variant | - | NC_000017.11:g.72121551C>A | gnomAD |
rs1370029373 | p.Glu57Asp | missense variant | - | NC_000017.11:g.72121562G>T | TOPMed |
rs749108550 | p.Glu57Lys | missense variant | - | NC_000017.11:g.72121560G>A | ExAC,TOPMed,gnomAD |
rs770917232 | p.Pro58Arg | missense variant | - | NC_000017.11:g.72121564C>G | ExAC,TOPMed,gnomAD |
rs367592961 | p.Asp59Tyr | missense variant | - | NC_000017.11:g.72121566G>T | ESP,TOPMed,gnomAD |
rs367592961 | p.Asp59Asn | missense variant | - | NC_000017.11:g.72121566G>A | ESP,TOPMed,gnomAD |
COSM5156965 | p.Lys61GluPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121569_72121570insT | NCI-TCGA Cosmic |
rs953588825 | p.Lys62Glu | missense variant | - | NC_000017.11:g.72121575A>G | TOPMed |
COSM1385622 | p.Glu63GlyPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121574_72121575insA | NCI-TCGA Cosmic |
rs149852681 | p.Glu63Lys | missense variant | - | NC_000017.11:g.72121578G>A | ESP,ExAC,TOPMed,gnomAD |
rs1295144957 | p.Glu63Asp | missense variant | - | NC_000017.11:g.72121580G>C | gnomAD |
rs1354393467 | p.Glu63Gly | missense variant | - | NC_000017.11:g.72121579A>G | TOPMed |
rs149852681 | p.Glu63Gln | missense variant | - | NC_000017.11:g.72121578G>C | ESP,ExAC,TOPMed,gnomAD |
rs1368180768 | p.Ser64Thr | missense variant | - | NC_000017.11:g.72121582G>C | gnomAD |
rs1309589494 | p.Glu65Gly | missense variant | - | NC_000017.11:g.72121585A>G | gnomAD |
NCI-TCGA novel | p.Glu66GlyPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72121587_72121588GA>- | NCI-TCGA |
rs759597531 | p.Glu66Lys | missense variant | - | NC_000017.11:g.72121587G>A | ExAC,gnomAD |
rs769953292 | p.Asp67Gly | missense variant | - | NC_000017.11:g.72121591A>G | ExAC,TOPMed,gnomAD |
rs1182522222 | p.Asp67Asn | missense variant | - | NC_000017.11:g.72121590G>A | gnomAD |
rs1316632405 | p.Pro70Ser | missense variant | - | NC_000017.11:g.72121599C>T | gnomAD |
rs374439583 | p.Arg74Ser | missense variant | - | NC_000017.11:g.72121611C>A | ESP,TOPMed |
COSM344590 | p.Glu75Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121614G>A | NCI-TCGA Cosmic |
rs750706326 | p.Glu75Asp | missense variant | - | NC_000017.11:g.72121616G>C | ExAC,gnomAD |
rs137853128 | p.Ala76Glu | missense variant | - | NC_000017.11:g.72121618C>A | - |
rs137853128 | p.Ala76Glu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72121618C>A | UniProt,dbSNP |
VAR_063642 | p.Ala76Glu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72121618C>A | UniProt |
RCV000002621 | p.Ala76Glu | missense variant | Acampomelic campomelic dysplasia | NC_000017.11:g.72121618C>A | ClinVar |
COSM1385623 | p.Val77Phe | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121620G>T | NCI-TCGA Cosmic |
rs1239068559 | p.Val77Leu | missense variant | - | NC_000017.11:g.72121620G>C | gnomAD |
rs1175328216 | p.Ser78Asn | missense variant | - | NC_000017.11:g.72121624G>A | gnomAD |
rs1424115604 | p.Leu81Phe | missense variant | - | NC_000017.11:g.72121632C>T | gnomAD |
rs1426824674 | p.Lys82Arg | missense variant | - | NC_000017.11:g.72121636A>G | TOPMed |
RCV000531068 | p.Tyr84Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72121643C>G | ClinVar |
COSM3403169 | p.Tyr84Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121641T>G | NCI-TCGA Cosmic |
rs1555629022 | p.Tyr84Ter | stop gained | - | NC_000017.11:g.72121643C>G | - |
NCI-TCGA novel | p.Asp85GlyPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72121643_72121644insG | NCI-TCGA |
rs368623884 | p.Asp85His | missense variant | - | NC_000017.11:g.72121644G>C | ESP,TOPMed,gnomAD |
rs368623884 | p.Asp85Asn | missense variant | - | NC_000017.11:g.72121644G>A | ESP,TOPMed,gnomAD |
NCI-TCGA novel | p.Trp86Ter | stop gained | - | NC_000017.11:g.72121648G>A | NCI-TCGA |
rs1460513055 | p.Val89Ala | missense variant | - | NC_000017.11:g.72121657T>C | gnomAD |
rs755459350 | p.Met91Ile | missense variant | - | NC_000017.11:g.72121664G>T | ExAC,TOPMed,gnomAD |
rs752036712 | p.Met91Thr | missense variant | - | NC_000017.11:g.72121663T>C | ExAC,gnomAD |
rs766764961 | p.Met91Leu | missense variant | - | NC_000017.11:g.72121662A>T | ExAC,gnomAD |
RCV000658382 | p.Met91Ter | frameshift | - | NC_000017.11:g.72121663dup | ClinVar |
rs1373080436 | p.Arg94His | missense variant | - | NC_000017.11:g.72121672G>A | gnomAD |
rs148407362 | p.Asn96Ser | missense variant | - | NC_000017.11:g.72121678A>G | ESP,ExAC,TOPMed,gnomAD |
rs777553641 | p.Gly97Cys | missense variant | - | NC_000017.11:g.72121680G>T | ExAC,TOPMed,gnomAD |
rs777553641 | p.Gly97Arg | missense variant | - | NC_000017.11:g.72121680G>C | ExAC,TOPMed,gnomAD |
rs748989255 | p.Ser99Asn | missense variant | - | NC_000017.11:g.72121687G>A | ExAC,gnomAD |
rs1232479837 | p.Asn101Lys | missense variant | - | NC_000017.11:g.72121694C>A | gnomAD |
NCI-TCGA novel | p.His104Tyr | missense variant | - | NC_000017.11:g.72121701C>T | NCI-TCGA |
RCV000259486 | p.Lys106Glu | missense variant | - | NC_000017.11:g.72121707A>G | ClinVar |
rs886042523 | p.Lys106Glu | missense variant | - | NC_000017.11:g.72121707A>G | - |
NCI-TCGA novel | p.Pro108Ser | missense variant | - | NC_000017.11:g.72121713C>T | NCI-TCGA |
VAR_003735 | p.Pro108Leu | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
NCI-TCGA novel | p.Asn110Thr | missense variant | - | NC_000017.11:g.72121720A>C | NCI-TCGA |
NCI-TCGA novel | p.Asn110Ser | missense variant | - | NC_000017.11:g.72121720A>G | NCI-TCGA |
rs1425166755 | p.Ala111Pro | missense variant | - | NC_000017.11:g.72121722G>C | gnomAD |
RCV000624587 | p.Ala111Thr | missense variant | Inborn genetic diseases | NC_000017.11:g.72121722G>A | ClinVar |
rs1425166755 | p.Ala111Thr | missense variant | - | NC_000017.11:g.72121722G>A | gnomAD |
rs1407667250 | p.Phe112Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72121727C>A | UniProt,dbSNP |
VAR_003736 | p.Phe112Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72121727C>A | UniProt |
rs1407667250 | p.Phe112Leu | missense variant | - | NC_000017.11:g.72121727C>A | gnomAD |
VAR_003737 | p.Phe112Ser | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
VAR_063643 | p.Met113Thr | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
VAR_063644 | p.Met113Val | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
COSM3403170 | p.Val114Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121732T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Trp115GlyPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72121731_72121732GT>- | NCI-TCGA |
RCV000756682 | p.Trp115Ter | nonsense | - | NC_000017.11:g.72121735G>A | ClinVar |
RCV000543112 | p.Gln117Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72121740C>T | ClinVar |
rs1555629037 | p.Gln117Ter | stop gained | - | NC_000017.11:g.72121740C>T | - |
rs1327802772 | p.Ala118Thr | missense variant | - | NC_000017.11:g.72121743G>A | gnomAD |
RCV000283868 | p.Ala119Glu | missense variant | - | NC_000017.11:g.72121747C>A | ClinVar |
rs886043537 | p.Ala119Glu | missense variant | - | NC_000017.11:g.72121747C>A | - |
VAR_003738 | p.Ala119Val | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
NCI-TCGA novel | p.Arg120Cys | missense variant | - | NC_000017.11:g.72121749C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg121Gly | missense variant | - | NC_000017.11:g.72121752A>G | NCI-TCGA |
rs1057524437 | p.Ala124Pro | missense variant | - | NC_000017.11:g.72121761G>C | - |
RCV000433660 | p.Ala124Pro | missense variant | - | NC_000017.11:g.72121761G>C | ClinVar |
COSM437263 | p.Gln126Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72121767C>T | NCI-TCGA Cosmic |
rs748167077 | p.Gln126His | missense variant | - | NC_000017.11:g.72121769G>T | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr127Cys | missense variant | - | NC_000017.11:g.72121771A>G | NCI-TCGA |
rs1279323725 | p.His129Tyr | missense variant | - | NC_000017.11:g.72121776C>T | gnomAD |
rs1341586323 | p.His131Tyr | missense variant | - | NC_000017.11:g.72121782C>T | gnomAD |
NCI-TCGA novel | p.Leu135Phe | missense variant | - | NC_000017.11:g.72121794C>T | NCI-TCGA |
NCI-TCGA novel | p.Ser136Asn | missense variant | - | NC_000017.11:g.72121798G>A | NCI-TCGA |
rs1443204761 | p.Lys137Glu | missense variant | - | NC_000017.11:g.72121800A>G | gnomAD |
RCV000523771 | p.Thr138Lys | missense variant | - | NC_000017.11:g.72121804C>A | ClinVar |
rs1555629043 | p.Thr138Lys | missense variant | - | NC_000017.11:g.72121804C>A | - |
COSM3691761 | p.Lys141Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72121812A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Lys141Asn | missense variant | - | NC_000017.11:g.72121814G>T | NCI-TCGA |
rs528850018 | p.Leu142Phe | missense variant | - | NC_000017.11:g.72121815C>T | 1000Genomes |
RCV000756678 | p.Trp143Cys | missense variant | - | NC_000017.11:g.72121820G>T | ClinVar |
VAR_003739 | p.Trp143Arg | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
rs1331779898 | p.Leu145His | missense variant | - | NC_000017.11:g.72122721T>A | gnomAD |
COSM270989 | p.Leu146ArgPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72122724T>- | NCI-TCGA Cosmic |
rs547222137 | p.Asn147Thr | missense variant | - | NC_000017.11:g.72122727A>C | 1000Genomes |
rs886041242 | p.Glu148Ter | stop gained | - | NC_000017.11:g.72122729G>T | TOPMed |
RCV000306254 | p.Glu148Ter | nonsense | - | NC_000017.11:g.72122729G>T | ClinVar |
rs886041242 | p.Glu148Gln | missense variant | - | NC_000017.11:g.72122729G>C | TOPMed |
rs1465795705 | p.Glu150Asp | missense variant | - | NC_000017.11:g.72122737G>C | gnomAD |
COSM983752 | p.Arg152Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122741C>T | NCI-TCGA Cosmic |
VAR_003740 | p.Arg152Pro | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
RCV000002623 | p.Phe154Leu | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122749C>G | ClinVar |
rs137853129 | p.Phe154Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122749C>G | UniProt,dbSNP |
VAR_008529 | p.Phe154Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122749C>G | UniProt |
rs137853129 | p.Phe154Leu | missense variant | - | NC_000017.11:g.72122749C>G | - |
NCI-TCGA novel | p.Glu156Ter | stop gained | - | NC_000017.11:g.72122753G>T | NCI-TCGA |
rs137853130 | p.Ala158Thr | missense variant | - | NC_000017.11:g.72122759G>A | - |
rs137853130 | p.Ala158Thr | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122759G>A | UniProt,dbSNP |
VAR_008530 | p.Ala158Thr | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122759G>A | UniProt |
RCV000002624 | p.Ala158Thr | missense variant | Campomelic dysplasia with autosomal sex reversal | NC_000017.11:g.72122759G>A | ClinVar |
NCI-TCGA novel | p.Arg160ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72122764_72122765insC | NCI-TCGA |
rs1057518419 | p.Arg160Pro | missense variant | - | NC_000017.11:g.72122766G>C | - |
RCV000413454 | p.Arg160Pro | missense variant | - | NC_000017.11:g.72122766G>C | ClinVar |
rs774639088 | p.Arg162His | missense variant | - | NC_000017.11:g.72122772G>A | ExAC,gnomAD |
rs1211255730 | p.Val163Ala | missense variant | - | NC_000017.11:g.72122775T>C | gnomAD |
rs1469442385 | p.Val163Met | missense variant | - | NC_000017.11:g.72122774G>A | TOPMed,gnomAD |
rs1469442385 | p.Val163Leu | missense variant | - | NC_000017.11:g.72122774G>T | TOPMed,gnomAD |
rs1469442385 | p.Val163Leu | missense variant | - | NC_000017.11:g.72122774G>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Gln164Ter | stop gained | - | NC_000017.11:g.72122777C>T | NCI-TCGA |
RCV000754788 | p.Gln164Pro | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122778A>C | ClinVar |
COSM4069148 | p.His165Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122781A>G | NCI-TCGA Cosmic |
RCV000002620 | p.His165Tyr | missense variant | Acampomelic campomelic dysplasia | NC_000017.11:g.72122780C>T | ClinVar |
rs28940282 | p.His165Tyr | missense variant | - | NC_000017.11:g.72122780C>T | - |
rs28940282 | p.His165Tyr | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122780C>T | UniProt,dbSNP |
VAR_008531 | p.His165Tyr | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122780C>T | UniProt |
VAR_063645 | p.His165Gln | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
NCI-TCGA novel | p.Lys166Asn | missense variant | - | NC_000017.11:g.72122785G>C | NCI-TCGA |
NCI-TCGA novel | p.Lys167Thr | missense variant | - | NC_000017.11:g.72122787A>C | NCI-TCGA |
NCI-TCGA novel | p.Asp168Gly | missense variant | - | NC_000017.11:g.72122790A>G | NCI-TCGA |
rs2229989 | p.His169Gln | missense variant | - | NC_000017.11:g.72122794C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000224991 | p.His169Gln | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122794C>G | ClinVar |
VAR_078491 | p.His169Pro | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
rs866706988 | p.Pro170Ser | missense variant | - | NC_000017.11:g.72122795C>T | - |
RCV000494341 | p.Pro170Leu | missense variant | - | NC_000017.11:g.72122796C>T | ClinVar |
rs1131691554 | p.Pro170Leu | missense variant | - | NC_000017.11:g.72122796C>T | - |
rs1131691554 | p.Pro170Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122796C>T | UniProt,dbSNP |
VAR_063646 | p.Pro170Leu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122796C>T | UniProt |
RCV000677668 | p.Pro170Ser | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122795C>T | ClinVar |
VAR_003741 | p.Pro170Arg | Missense | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
rs1468883015 | p.Asp171Tyr | missense variant | - | NC_000017.11:g.72122798G>T | gnomAD |
COSM1385626 | p.Tyr172His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122801T>C | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Tyr172LeuPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72122799_72122800insT | NCI-TCGA |
RCV000578438 | p.Tyr172Cys | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122802A>G | ClinVar |
rs1555629158 | p.Tyr172Cys | missense variant | - | NC_000017.11:g.72122802A>G | - |
rs925119013 | p.Lys173Arg | missense variant | - | NC_000017.11:g.72122805A>G | TOPMed |
RCV000002618 | p.Lys173Glu | missense variant | Acampomelic campomelic dysplasia | NC_000017.11:g.72122804A>G | ClinVar |
rs104894647 | p.Lys173Glu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122804A>G | UniProt,dbSNP |
VAR_063647 | p.Lys173Glu | missense variant | Campomelic dysplasia (CMD1) | NC_000017.11:g.72122804A>G | UniProt |
rs104894647 | p.Lys173Glu | missense variant | - | NC_000017.11:g.72122804A>G | - |
NCI-TCGA novel | p.Tyr174Cys | missense variant | - | NC_000017.11:g.72122808A>G | NCI-TCGA |
rs373719106 | p.Tyr174Ter | stop gained | - | NC_000017.11:g.72122809C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000623666 | p.Tyr174Ser | missense variant | Inborn genetic diseases | NC_000017.11:g.72122808A>C | ClinVar |
RCV000486195 | p.Tyr174Ter | nonsense | - | NC_000017.11:g.72122809C>G | ClinVar |
rs1555629165 | p.Tyr174Ser | missense variant | - | NC_000017.11:g.72122808A>C | - |
RCV000760948 | p.Tyr174Ter | nonsense | - | NC_000017.11:g.72122809C>A | ClinVar |
COSM1385627 | p.Gln175Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122811A>C | NCI-TCGA Cosmic |
rs1555629170 | p.Pro176Arg | missense variant | - | NC_000017.11:g.72122814C>G | - |
RCV000520332 | p.Pro176Arg | missense variant | - | NC_000017.11:g.72122814C>G | ClinVar |
rs1555629169 | p.Pro176Ser | missense variant | - | NC_000017.11:g.72122813C>T | - |
RCV000498972 | p.Pro176Ser | missense variant | - | NC_000017.11:g.72122813C>T | ClinVar |
COSM983753 | p.Arg177Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122816C>T | NCI-TCGA Cosmic |
rs794727246 | p.Arg177Gln | missense variant | - | NC_000017.11:g.72122817G>A | - |
RCV000175588 | p.Arg177Gln | missense variant | - | NC_000017.11:g.72122817G>A | ClinVar |
RCV000175589 | p.Arg179Gly | missense variant | - | NC_000017.11:g.72122822A>G | ClinVar |
rs794727247 | p.Arg179Gly | missense variant | - | NC_000017.11:g.72122822A>G | - |
rs779943975 | p.Val182Met | missense variant | - | NC_000017.11:g.72122831G>A | ExAC,gnomAD |
rs1354294733 | p.Val182Ala | missense variant | - | NC_000017.11:g.72122832T>C | TOPMed |
rs1412598968 | p.Lys183Arg | missense variant | - | NC_000017.11:g.72122835A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Asn184Ile | missense variant | - | NC_000017.11:g.72122838A>T | NCI-TCGA |
rs751400812 | p.Asn184Lys | missense variant | - | NC_000017.11:g.72122839C>G | ExAC |
rs1469172813 | p.Asn184Thr | missense variant | - | NC_000017.11:g.72122838A>C | gnomAD |
rs751400812 | p.Asn184Lys | missense variant | - | NC_000017.11:g.72122839C>A | ExAC |
rs777760556 | p.Gly185Glu | missense variant | - | NC_000017.11:g.72122841G>A | ExAC,gnomAD |
rs754935813 | p.Gly185Trp | missense variant | - | NC_000017.11:g.72122840G>T | ExAC,TOPMed,gnomAD |
rs754935813 | p.Gly185Arg | missense variant | - | NC_000017.11:g.72122840G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln186Arg | missense variant | - | NC_000017.11:g.72122844A>G | NCI-TCGA |
RCV000255093 | p.Gln186Ter | frameshift | - | NC_000017.11:g.72122842del | ClinVar |
NCI-TCGA novel | p.Ala187Val | missense variant | - | NC_000017.11:g.72122847C>T | NCI-TCGA |
RCV000487804 | p.Ala187Pro | missense variant | - | NC_000017.11:g.72122846G>C | ClinVar |
rs771056492 | p.Ala187Thr | missense variant | - | NC_000017.11:g.72122846G>A | ExAC,TOPMed,gnomAD |
rs771056492 | p.Ala187Pro | missense variant | - | NC_000017.11:g.72122846G>C | ExAC,TOPMed,gnomAD |
rs746150703 | p.Glu190Gly | missense variant | - | NC_000017.11:g.72122856A>G | ExAC,gnomAD |
rs772277252 | p.Glu191Ala | missense variant | - | NC_000017.11:g.72122859A>C | ExAC,gnomAD |
rs775956539 | p.Ala192Ser | missense variant | - | NC_000017.11:g.72122861G>T | ExAC,gnomAD |
rs761199061 | p.Thr193Ala | missense variant | - | NC_000017.11:g.72122864A>G | ExAC,gnomAD |
rs375577899 | p.Glu194Gly | missense variant | - | NC_000017.11:g.72122868A>G | ESP,TOPMed,gnomAD |
rs1174185362 | p.Glu194Lys | missense variant | - | NC_000017.11:g.72122867G>A | gnomAD |
rs1480235826 | p.Gln195Glu | missense variant | - | NC_000017.11:g.72122870C>G | TOPMed |
rs1417266505 | p.Gln195Leu | missense variant | - | NC_000017.11:g.72122871A>T | gnomAD |
rs777338876 | p.Thr196Met | missense variant | - | NC_000017.11:g.72122874C>T | ExAC,TOPMed,gnomAD |
rs1462845239 | p.His197Leu | missense variant | - | NC_000017.11:g.72122877A>T | TOPMed |
rs146754673 | p.His197Gln | missense variant | - | NC_000017.11:g.72122878C>A | ESP,ExAC,TOPMed,gnomAD |
rs1390665178 | p.His197Asp | missense variant | - | NC_000017.11:g.72122876C>G | gnomAD |
rs750018537 | p.Ile198Asn | missense variant | - | NC_000017.11:g.72122880T>A | ExAC,gnomAD |
rs1292551352 | p.Ser199Pro | missense variant | - | NC_000017.11:g.72122882T>C | gnomAD |
rs762685531 | p.Ser199Tyr | missense variant | - | NC_000017.11:g.72122883C>A | ExAC,gnomAD |
rs762685531 | p.Ser199Phe | missense variant | - | NC_000017.11:g.72122883C>T | ExAC,gnomAD |
rs1249311365 | p.Pro200Thr | missense variant | - | NC_000017.11:g.72122885C>A | TOPMed,gnomAD |
rs1249311365 | p.Pro200Ser | missense variant | - | NC_000017.11:g.72122885C>T | TOPMed,gnomAD |
rs1338326231 | p.Asn201Ser | missense variant | - | NC_000017.11:g.72122889A>G | gnomAD |
rs1222573664 | p.Ile203Val | missense variant | - | NC_000017.11:g.72122894A>G | TOPMed |
rs140368355 | p.Ile203Met | missense variant | - | NC_000017.11:g.72122896C>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Phe204Ter | stop gained | - | NC_000017.11:g.72122897_72122898insAAG | NCI-TCGA |
NCI-TCGA novel | p.Phe204Tyr | missense variant | - | NC_000017.11:g.72122898T>A | NCI-TCGA |
rs754850647 | p.Phe204Leu | missense variant | - | NC_000017.11:g.72122897T>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala206Val | missense variant | - | NC_000017.11:g.72122904C>T | NCI-TCGA |
COSM1385629 | p.Gln208Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72122909C>T | NCI-TCGA Cosmic |
rs781092407 | p.Ala209Ser | missense variant | - | NC_000017.11:g.72122912G>T | ExAC,gnomAD |
rs1403504655 | p.Ala209Val | missense variant | - | NC_000017.11:g.72122913C>T | TOPMed |
rs201541265 | p.Asp210Tyr | missense variant | - | NC_000017.11:g.72122915G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201541265 | p.Asp210Asn | missense variant | - | NC_000017.11:g.72122915G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs746038858 | p.Asp210Glu | missense variant | - | NC_000017.11:g.72122917C>G | ExAC,gnomAD |
RCV000658383 | p.Asp210Ter | frameshift | - | NC_000017.11:g.72122915del | ClinVar |
rs1174435172 | p.His213Tyr | missense variant | - | NC_000017.11:g.72122924C>T | gnomAD |
rs772345173 | p.His213Gln | missense variant | - | NC_000017.11:g.72122926C>G | ExAC,TOPMed,gnomAD |
COSM473289 | p.Ser214Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72122927T>C | NCI-TCGA Cosmic |
rs1412662021 | p.Ser214Phe | missense variant | - | NC_000017.11:g.72122928C>T | TOPMed,gnomAD |
rs1033953308 | p.Ser215Phe | missense variant | - | NC_000017.11:g.72122931C>T | TOPMed |
rs747366415 | p.Met218Ile | missense variant | - | NC_000017.11:g.72122941G>A | ExAC,TOPMed,gnomAD |
RCV000644442 | p.Met218Ile | missense variant | Camptomelic dysplasia | NC_000017.11:g.72122941G>A | ClinVar |
rs377486002 | p.Met218Val | missense variant | - | NC_000017.11:g.72122939A>G | ESP,ExAC,TOPMed,gnomAD |
rs769213732 | p.Ser219Asn | missense variant | - | NC_000017.11:g.72122943G>A | ExAC,gnomAD |
NCI-TCGA novel | p.His222CysPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72122947_72122948insGT | NCI-TCGA |
rs769133543 | p.His222Tyr | missense variant | - | NC_000017.11:g.72122951C>T | ExAC,TOPMed,gnomAD |
rs1281960758 | p.His222Gln | missense variant | - | NC_000017.11:g.72122953C>G | gnomAD |
rs772806721 | p.Ser223Phe | missense variant | - | NC_000017.11:g.72122955C>T | ExAC,TOPMed,gnomAD |
rs772806721 | p.Ser223Cys | missense variant | - | NC_000017.11:g.72122955C>G | ExAC,TOPMed,gnomAD |
rs772806721 | p.Ser223Tyr | missense variant | - | NC_000017.11:g.72122955C>A | ExAC,TOPMed,gnomAD |
rs1262569164 | p.Pro224Leu | missense variant | - | NC_000017.11:g.72122958C>T | TOPMed |
rs759320911 | p.Gly225Ser | missense variant | - | NC_000017.11:g.72122960G>A | ExAC,TOPMed,gnomAD |
rs1197125838 | p.Glu226Lys | missense variant | - | NC_000017.11:g.72122963G>A | gnomAD |
rs752582434 | p.His227Leu | missense variant | - | NC_000017.11:g.72122967A>T | ExAC,gnomAD |
rs756077595 | p.Ser228Pro | missense variant | - | NC_000017.11:g.72122969T>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gln230Ter | stop gained | - | NC_000017.11:g.72123545C>T | NCI-TCGA |
NCI-TCGA novel | p.Gly233AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123553G>- | NCI-TCGA |
COSM473290 | p.Pro235Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72123560C>G | NCI-TCGA Cosmic |
COSM1563677 | p.Pro235HisPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123555_72123556insCC | NCI-TCGA Cosmic |
rs984877127 | p.Pro235Gln | missense variant | - | NC_000017.11:g.72123561C>A | TOPMed |
NCI-TCGA novel | p.Pro237ThrPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123564_72123565CC>- | NCI-TCGA |
RCV000722507 | p.Pro238Ter | frameshift | - | NC_000017.11:g.72123566_72123567dup | ClinVar |
rs1329065873 | p.Pro238Ala | missense variant | - | NC_000017.11:g.72123569C>G | gnomAD |
rs1275128261 | p.Thr239Pro | missense variant | - | NC_000017.11:g.72123572A>C | TOPMed,gnomAD |
rs749798911 | p.Thr240Ser | missense variant | - | NC_000017.11:g.72123576C>G | ExAC,gnomAD |
rs1224146749 | p.Thr240Pro | missense variant | - | NC_000017.11:g.72123575A>C | TOPMed |
rs1233623657 | p.Pro241Ser | missense variant | - | NC_000017.11:g.72123578C>T | gnomAD |
rs1481515653 | p.Lys242Gln | missense variant | - | NC_000017.11:g.72123581A>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr243ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123576C>- | NCI-TCGA |
NCI-TCGA novel | p.Asp244SerPheSerTerUnk | frameshift | - | NC_000017.11:g.72123586_72123592CGACGTG>- | NCI-TCGA |
rs1407238192 | p.Asp244His | missense variant | - | NC_000017.11:g.72123587G>C | TOPMed,gnomAD |
rs375127115 | p.Val245Leu | missense variant | - | NC_000017.11:g.72123590G>T | ESP,ExAC,TOPMed,gnomAD |
rs375127115 | p.Val245Met | missense variant | - | NC_000017.11:g.72123590G>A | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Gln246Ter | stop gained | - | NC_000017.11:g.72123593C>T | NCI-TCGA |
NCI-TCGA novel | p.Gln246Lys | missense variant | - | NC_000017.11:g.72123593C>A | NCI-TCGA |
rs773882079 | p.Gln246Pro | missense variant | - | NC_000017.11:g.72123594A>C | ExAC,TOPMed,gnomAD |
RCV000485751 | p.Gln246Ter | frameshift | - | NC_000017.11:g.72123595del | ClinVar |
RCV000002615 | p.Gln246Ter | frameshift | Camptomelic dysplasia | NC_000017.11:g.72123593dup | ClinVar |
RCV000002616 | p.Gln246Ter | frameshift | Campomelic dysplasia with autosomal sex reversal | NC_000017.11:g.72123593dup | ClinVar |
rs566929141 | p.Pro247Thr | missense variant | - | NC_000017.11:g.72123596C>A | 1000Genomes,ExAC,gnomAD |
rs1460431767 | p.Pro247Leu | missense variant | - | NC_000017.11:g.72123597C>T | gnomAD |
NCI-TCGA novel | p.Asp251Asn | missense variant | - | NC_000017.11:g.72123608G>A | NCI-TCGA |
rs534044974 | p.Asp251Tyr | missense variant | - | NC_000017.11:g.72123608G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs775182990 | p.Leu252Pro | missense variant | - | NC_000017.11:g.72123612T>C | ExAC,TOPMed,gnomAD |
rs183824168 | p.Arg254Leu | missense variant | - | NC_000017.11:g.72123618G>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs183824168 | p.Arg254Pro | missense variant | - | NC_000017.11:g.72123618G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
COSM1385632 | p.Glu255GlyPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123618_72123619GA>- | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gly256ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123617_72123618insGA | NCI-TCGA |
COSM983754 | p.Arg257His | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72123627G>A | NCI-TCGA Cosmic |
COSM273571 | p.Arg257GlyPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123621_72123622insGG | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Arg257Cys | missense variant | - | NC_000017.11:g.72123626C>T | NCI-TCGA |
NCI-TCGA novel | p.Arg257AlaPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123621_72123622insG | NCI-TCGA |
rs1220067083 | p.Arg257Pro | missense variant | - | NC_000017.11:g.72123627G>C | gnomAD |
COSM5129909 | p.Pro258GlyPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123621_72123622insGGGGC | NCI-TCGA Cosmic |
rs761682807 | p.Pro258Leu | missense variant | - | NC_000017.11:g.72123630C>T | ExAC,gnomAD |
rs761682807 | p.Pro258Arg | missense variant | - | NC_000017.11:g.72123630C>G | ExAC,gnomAD |
rs1295597096 | p.Pro258Thr | missense variant | - | NC_000017.11:g.72123629C>A | gnomAD |
RCV000593996 | p.Glu261Ter | nonsense | - | NC_000017.11:g.72123638G>T | ClinVar |
NCI-TCGA novel | p.Glu261ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72123634_72123635insC | NCI-TCGA |
rs1555629290 | p.Glu261Ter | stop gained | - | NC_000017.11:g.72123638G>T | - |
rs751690259 | p.Glu261Asp | missense variant | - | NC_000017.11:g.72123640G>C | ExAC,TOPMed,gnomAD |
rs751690259 | p.Glu261Asp | missense variant | - | NC_000017.11:g.72123640G>T | ExAC,TOPMed,gnomAD |
rs767836798 | p.Gly262Arg | missense variant | - | NC_000017.11:g.72123641G>C | ExAC,TOPMed,gnomAD |
rs767836798 | p.Gly262Arg | missense variant | - | NC_000017.11:g.72123641G>A | ExAC,TOPMed,gnomAD |
rs1196485591 | p.Gly262Val | missense variant | - | NC_000017.11:g.72123642G>T | TOPMed |
COSM4729222 | p.Gly263AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123640G>- | NCI-TCGA Cosmic |
rs756469416 | p.Gly263Asp | missense variant | - | NC_000017.11:g.72123645G>A | ExAC,TOPMed |
rs752926968 | p.Gly263Ser | missense variant | - | NC_000017.11:g.72123644G>A | ExAC,TOPMed,gnomAD |
rs756469416 | p.Gly263Val | missense variant | - | NC_000017.11:g.72123645G>T | ExAC,TOPMed |
COSM1385633 | p.Arg264GlnPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123639_72123640insG | NCI-TCGA Cosmic |
rs778047936 | p.Arg264Lys | missense variant | - | NC_000017.11:g.72123648G>A | ExAC,gnomAD |
COSM5071605 | p.Gln265Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123650C>T | NCI-TCGA Cosmic |
rs949594699 | p.Gln265Glu | missense variant | - | NC_000017.11:g.72123650C>G | TOPMed |
NCI-TCGA novel | p.Pro266Leu | missense variant | - | NC_000017.11:g.72123654C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro266Thr | missense variant | - | NC_000017.11:g.72123653C>A | NCI-TCGA |
NCI-TCGA novel | p.Pro267Leu | missense variant | - | NC_000017.11:g.72123657C>T | NCI-TCGA |
NCI-TCGA novel | p.Pro267His | missense variant | - | NC_000017.11:g.72123657C>A | NCI-TCGA |
rs757709630 | p.Ile268Val | missense variant | - | NC_000017.11:g.72123659A>G | ExAC,gnomAD |
rs778335883 | p.Asp269Glu | missense variant | - | NC_000017.11:g.72123664C>A | ExAC,gnomAD |
COSM1385634 | p.Phe270Leu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72123667C>A | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Phe270Ile | missense variant | - | NC_000017.11:g.72123665T>A | NCI-TCGA |
rs771635102 | p.Arg271Cys | missense variant | - | NC_000017.11:g.72123668C>T | ExAC,TOPMed,gnomAD |
rs771635102 | p.Arg271Gly | missense variant | - | NC_000017.11:g.72123668C>G | ExAC,TOPMed,gnomAD |
rs201477430 | p.Val273Leu | missense variant | - | NC_000017.11:g.72123674G>C | TOPMed,gnomAD |
COSM1563676 | p.Asp274TrpPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123673_72123674insGT | NCI-TCGA Cosmic |
rs768444599 | p.Gly276Ser | missense variant | - | NC_000017.11:g.72123683G>A | ExAC,TOPMed,gnomAD |
rs768444599 | p.Gly276Arg | missense variant | - | NC_000017.11:g.72123683G>C | ExAC,TOPMed,gnomAD |
rs776317419 | p.Glu277Asp | missense variant | - | NC_000017.11:g.72123688G>C | ExAC,TOPMed,gnomAD |
rs761747688 | p.Ser280Gly | missense variant | - | NC_000017.11:g.72123695A>G | ExAC,gnomAD |
NCI-TCGA novel | p.Asp281Asn | missense variant | - | NC_000017.11:g.72123698G>A | NCI-TCGA |
rs769869469 | p.Asp281Glu | missense variant | - | NC_000017.11:g.72123700C>A | ExAC,TOPMed,gnomAD |
rs1213053148 | p.Ile283Met | missense variant | - | NC_000017.11:g.72123706C>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Glu287Asp | missense variant | - | NC_000017.11:g.72123718G>T | NCI-TCGA |
rs767748183 | p.Glu287Gln | missense variant | - | NC_000017.11:g.72123716G>C | ExAC,gnomAD |
rs1212728212 | p.Thr288Asn | missense variant | - | NC_000017.11:g.72123720C>A | TOPMed,gnomAD |
rs752943571 | p.Phe289Leu | missense variant | - | NC_000017.11:g.72123724C>A | ExAC,gnomAD |
COSM3521540 | p.Asp290Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72123725G>A | NCI-TCGA Cosmic |
COSM272219 | p.Asp290ArgPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123723_72123724insC | NCI-TCGA Cosmic |
rs1193731490 | p.Asp290Glu | missense variant | - | NC_000017.11:g.72123727T>A | gnomAD |
COSM1385636 | p.Val291AlaPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123729T>- | NCI-TCGA Cosmic |
rs1243362743 | p.Val291Ile | missense variant | - | NC_000017.11:g.72123728G>A | gnomAD |
rs1174668473 | p.Asn292Thr | missense variant | - | NC_000017.11:g.72123732A>C | TOPMed |
rs1474111123 | p.Asn292Lys | missense variant | - | NC_000017.11:g.72123733C>G | TOPMed,gnomAD |
COSM1385635 | p.Glu293GlnPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123728_72123729insTCAA | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp295GluPheSerTerUnkUnk | stop gained | - | NC_000017.11:g.72123741_72123742insGGAGGAGTGTGGCAGTTTGCCATATTAAAACCAGATAAGCAAGT | NCI-TCGA |
rs961884103 | p.Gln296Pro | missense variant | - | NC_000017.11:g.72123744A>C | gnomAD |
rs961884103 | p.Gln296Arg | missense variant | - | NC_000017.11:g.72123744A>G | gnomAD |
rs1175902013 | p.Asn301Ser | missense variant | - | NC_000017.11:g.72123759A>G | gnomAD |
rs1319504499 | p.Gly302Val | missense variant | - | NC_000017.11:g.72123762G>T | gnomAD |
rs1414403898 | p.Gly302Ser | missense variant | - | NC_000017.11:g.72123761G>A | gnomAD |
rs1347071167 | p.His303Gln | missense variant | - | NC_000017.11:g.72123766C>G | TOPMed,gnomAD |
rs994687929 | p.Pro304Ala | missense variant | - | NC_000017.11:g.72123767C>G | TOPMed,gnomAD |
rs994687929 | p.Pro304Thr | missense variant | - | NC_000017.11:g.72123767C>A | TOPMed,gnomAD |
RCV000260711 | p.Gly305Ala | missense variant | Camptomelic dysplasia | NC_000017.11:g.72123771G>C | ClinVar |
rs143697828 | p.Gly305Ala | missense variant | - | NC_000017.11:g.72123771G>C | ESP,ExAC,TOPMed,gnomAD |
COSM4611928 | p.Val306GlyPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123768_72123769insG | NCI-TCGA Cosmic |
COSM1385637 | p.Val306CysPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123769G>- | NCI-TCGA Cosmic |
rs779386878 | p.Val306Leu | missense variant | - | NC_000017.11:g.72123773G>T | ExAC,gnomAD |
COSM1385638 | p.Pro307CysPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123772_72123773insGT | NCI-TCGA Cosmic |
rs1286206233 | p.Pro307Ser | missense variant | - | NC_000017.11:g.72123776C>T | gnomAD |
RCV000332214 | p.Pro307Arg | missense variant | Camptomelic dysplasia | NC_000017.11:g.72123777C>G | ClinVar |
rs202028563 | p.Pro307Arg | missense variant | - | NC_000017.11:g.72123777C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs202028563 | p.Pro307Leu | missense variant | - | NC_000017.11:g.72123777C>T | 1000Genomes,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ala308Ser | missense variant | - | NC_000017.11:g.72123779G>T | NCI-TCGA |
rs746628734 | p.Ala308Thr | missense variant | - | NC_000017.11:g.72123779G>A | ExAC,gnomAD |
rs780987236 | p.His310Asp | missense variant | - | NC_000017.11:g.72123785C>G | ExAC,gnomAD |
rs138423956 | p.His310Gln | missense variant | - | NC_000017.11:g.72123787C>A | ESP,ExAC,TOPMed,gnomAD |
rs769781671 | p.Gly311Ser | missense variant | - | NC_000017.11:g.72123788G>A | ExAC,TOPMed,gnomAD |
rs1316101365 | p.Thr316Ala | missense variant | - | NC_000017.11:g.72123803A>G | TOPMed |
rs1399089944 | p.Thr316Met | missense variant | - | NC_000017.11:g.72123804C>T | TOPMed,gnomAD |
rs749288263 | p.Gly317Asp | missense variant | - | NC_000017.11:g.72123807G>A | ExAC,gnomAD |
rs772231279 | p.Gly320Ser | missense variant | - | NC_000017.11:g.72123815G>A | ExAC,TOPMed,gnomAD |
RCV000519049 | p.Ser322Asn | missense variant | - | NC_000017.11:g.72123822G>A | ClinVar |
RCV000823160 | p.Ser322Asn | missense variant | Camptomelic dysplasia | NC_000017.11:g.72123822G>A | ClinVar |
rs1239456905 | p.Ser322Asn | missense variant | - | NC_000017.11:g.72123822G>A | TOPMed,gnomAD |
NCI-TCGA novel | p.Thr324Ala | missense variant | - | NC_000017.11:g.72123827A>G | NCI-TCGA |
rs1348433812 | p.Ala325Val | missense variant | - | NC_000017.11:g.72123831C>T | gnomAD |
rs143983059 | p.Ala326Ser | missense variant | - | NC_000017.11:g.72123833G>T | ESP,ExAC,TOPMed,gnomAD |
rs776977497 | p.Thr327Ile | missense variant | - | NC_000017.11:g.72123837C>T | ExAC,TOPMed,gnomAD |
rs776977497 | p.Thr327Asn | missense variant | - | NC_000017.11:g.72123837C>A | ExAC,TOPMed,gnomAD |
rs1451445875 | p.Pro328Leu | missense variant | - | NC_000017.11:g.72123840C>T | gnomAD |
rs1266191864 | p.Pro328Ser | missense variant | - | NC_000017.11:g.72123839C>T | gnomAD |
rs1451445875 | p.Pro328Arg | missense variant | - | NC_000017.11:g.72123840C>G | gnomAD |
rs886053351 | p.Ala329Val | missense variant | - | NC_000017.11:g.72123843C>T | - |
RCV000389355 | p.Ala329Val | missense variant | Camptomelic dysplasia | NC_000017.11:g.72123843C>T | ClinVar |
rs1243340307 | p.Ser330Ile | missense variant | - | NC_000017.11:g.72123846G>T | TOPMed,gnomAD |
rs1243340307 | p.Ser330Thr | missense variant | - | NC_000017.11:g.72123846G>C | TOPMed,gnomAD |
rs751049318 | p.Ala331Glu | missense variant | - | NC_000017.11:g.72123849C>A | ExAC,TOPMed,gnomAD |
rs199887368 | p.Ala331Pro | missense variant | - | NC_000017.11:g.72123848G>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs199887368 | p.Ala331Thr | missense variant | - | NC_000017.11:g.72123848G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs751049318 | p.Ala331Val | missense variant | - | NC_000017.11:g.72123849C>T | ExAC,TOPMed,gnomAD |
rs747845908 | p.Gly332Ser | missense variant | - | NC_000017.11:g.72123851G>A | ExAC,gnomAD |
rs1293001310 | p.His333Arg | missense variant | - | NC_000017.11:g.72123855A>G | TOPMed |
rs777735151 | p.Val334Leu | missense variant | - | NC_000017.11:g.72123857G>T | ExAC,gnomAD |
rs777735151 | p.Val334Leu | missense variant | - | NC_000017.11:g.72123857G>C | ExAC,gnomAD |
rs1333697254 | p.Trp335Cys | missense variant | - | NC_000017.11:g.72123862G>T | gnomAD |
rs1409147937 | p.Met336Val | missense variant | - | NC_000017.11:g.72123863A>G | gnomAD |
rs774405051 | p.Ser337Ala | missense variant | - | NC_000017.11:g.72123866T>G | ExAC,gnomAD |
rs1336360702 | p.Ser337Tyr | missense variant | - | NC_000017.11:g.72123867C>A | gnomAD |
rs1264553569 | p.Lys338Arg | missense variant | - | NC_000017.11:g.72123870A>G | gnomAD |
RCV000578794 | p.Gln340Ter | nonsense | - | NC_000017.11:g.72123875C>T | ClinVar |
rs1339655148 | p.Gln340Ter | stop gained | - | NC_000017.11:g.72123875C>T | gnomAD |
rs1253122988 | p.Ala341Val | missense variant | - | NC_000017.11:g.72123879C>T | TOPMed,gnomAD |
rs1182134893 | p.Pro342Leu | missense variant | - | NC_000017.11:g.72123882C>T | gnomAD |
rs1258787580 | p.Pro343Leu | missense variant | - | NC_000017.11:g.72123885C>T | gnomAD |
RCV000756679 | p.Pro345Ser | missense variant | - | NC_000017.11:g.72123890C>T | ClinVar |
rs768818630 | p.Pro345Ser | missense variant | - | NC_000017.11:g.72123890C>T | ExAC,TOPMed,gnomAD |
rs1169811800 | p.Pro346Leu | missense variant | - | NC_000017.11:g.72123894C>T | gnomAD |
rs1462690222 | p.Pro346Ser | missense variant | - | NC_000017.11:g.72123893C>T | gnomAD |
rs1428820840 | p.Pro349Ser | missense variant | - | NC_000017.11:g.72123902C>T | gnomAD |
rs1313459777 | p.Pro349His | missense variant | - | NC_000017.11:g.72123903C>A | TOPMed,gnomAD |
rs1357275943 | p.Pro350Leu | missense variant | - | NC_000017.11:g.72123906C>T | gnomAD |
rs949561619 | p.Gln351Pro | missense variant | - | NC_000017.11:g.72123909A>C | TOPMed |
NCI-TCGA novel | p.Ala352Val | missense variant | - | NC_000017.11:g.72123912C>T | NCI-TCGA |
rs762041707 | p.Pro353Leu | missense variant | - | NC_000017.11:g.72123915C>T | ExAC,TOPMed,gnomAD |
rs762041707 | p.Pro353Gln | missense variant | - | NC_000017.11:g.72123915C>A | ExAC,TOPMed,gnomAD |
VAR_003742 | p.Pro354_Pro356del | inframe_deletion | Campomelic dysplasia (CMD1) [MIM:114290] | - | UniProt |
rs1320577043 | p.Ala355Val | missense variant | - | NC_000017.11:g.72123921C>T | gnomAD |
rs1212048972 | p.Ala355Thr | missense variant | - | NC_000017.11:g.72123920G>A | TOPMed |
rs1212048972 | p.Ala355Ser | missense variant | - | NC_000017.11:g.72123920G>T | TOPMed |
rs765542809 | p.Pro356Leu | missense variant | - | NC_000017.11:g.72123924C>T | ExAC,TOPMed,gnomAD |
rs765542809 | p.Pro356Gln | missense variant | - | NC_000017.11:g.72123924C>A | ExAC,TOPMed,gnomAD |
rs765542809 | p.Pro356Arg | missense variant | - | NC_000017.11:g.72123924C>G | ExAC,TOPMed,gnomAD |
rs527344892 | p.Gln357Leu | missense variant | - | NC_000017.11:g.72123927A>T | 1000Genomes |
rs773567014 | p.Ala358Glu | missense variant | - | NC_000017.11:g.72123930C>A | ExAC,gnomAD |
rs1217457548 | p.Pro359Ser | missense variant | - | NC_000017.11:g.72123932C>T | TOPMed |
NCI-TCGA novel | p.Gln361Ter | stop gained | - | NC_000017.11:g.72123938C>T | NCI-TCGA |
rs1255573826 | p.Gln361Lys | missense variant | - | NC_000017.11:g.72123938C>A | TOPMed,gnomAD |
rs1429147312 | p.Pro362Ser | missense variant | - | NC_000017.11:g.72123941C>T | gnomAD |
rs1298472162 | p.Gln363Pro | missense variant | - | NC_000017.11:g.72123945A>C | TOPMed |
rs200133354 | p.Ala364Val | missense variant | - | NC_000017.11:g.72123948C>T | 1000Genomes,ExAC,TOPMed |
rs200133354 | p.Ala364Glu | missense variant | - | NC_000017.11:g.72123948C>A | 1000Genomes,ExAC,TOPMed |
rs200658115 | p.Ala364Pro | missense variant | - | NC_000017.11:g.72123947G>C | ExAC,TOPMed,gnomAD |
rs200658115 | p.Ala364Thr | missense variant | - | NC_000017.11:g.72123947G>A | ExAC,TOPMed,gnomAD |
rs200658115 | p.Ala364Ser | missense variant | - | NC_000017.11:g.72123947G>T | ExAC,TOPMed,gnomAD |
rs1201663893 | p.Ala365Val | missense variant | - | NC_000017.11:g.72123951C>T | TOPMed |
rs752349944 | p.Pro366Ser | missense variant | - | NC_000017.11:g.72123953C>T | ExAC,TOPMed,gnomAD |
rs542727010 | p.Pro367Ser | missense variant | - | NC_000017.11:g.72123956C>T | 1000Genomes,ExAC,gnomAD |
rs542727010 | p.Pro367Ala | missense variant | - | NC_000017.11:g.72123956C>G | 1000Genomes,ExAC,gnomAD |
RCV000505952 | p.Pro367Ter | frameshift | - | NC_000017.11:g.72123956_72123957delinsG | ClinVar |
RCV000599489 | p.Gln368Ter | frameshift | - | NC_000017.11:g.72123957dup | ClinVar |
NCI-TCGA novel | p.Gln369Leu | missense variant | - | NC_000017.11:g.72123963A>T | NCI-TCGA |
rs1255723826 | p.Gln369Pro | missense variant | - | NC_000017.11:g.72123963A>C | TOPMed |
rs376470765 | p.Ala371Glu | missense variant | - | NC_000017.11:g.72123969C>A | ESP,ExAC,TOPMed,gnomAD |
rs376470765 | p.Ala371Val | missense variant | - | NC_000017.11:g.72123969C>T | ESP,ExAC,TOPMed,gnomAD |
rs745864586 | p.Ala372Thr | missense variant | - | NC_000017.11:g.72123971G>A | ExAC,gnomAD |
rs1230986531 | p.Pro373Ser | missense variant | - | NC_000017.11:g.72123974C>T | TOPMed |
NCI-TCGA novel | p.Pro374ArgPheSerTerUnk | frameshift | - | NC_000017.11:g.72123974C>- | NCI-TCGA |
rs770013452 | p.Pro374Gln | missense variant | - | NC_000017.11:g.72123978C>A | ExAC,TOPMed,gnomAD |
rs770013452 | p.Pro374Leu | missense variant | - | NC_000017.11:g.72123978C>T | ExAC,TOPMed,gnomAD |
rs781278609 | p.Pro374Thr | missense variant | - | NC_000017.11:g.72123977C>A | ExAC,gnomAD |
rs781278609 | p.Pro374Ser | missense variant | - | NC_000017.11:g.72123977C>T | ExAC,gnomAD |
rs770013452 | p.Pro374Arg | missense variant | - | NC_000017.11:g.72123978C>G | ExAC,TOPMed,gnomAD |
rs763307623 | p.Gln378Arg | missense variant | - | NC_000017.11:g.72123990A>G | ExAC,gnomAD |
COSM295047 | p.Ala379GlyPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72123990_72123991insGG | NCI-TCGA Cosmic |
rs771370458 | p.Ala379Glu | missense variant | - | NC_000017.11:g.72123993C>A | ExAC,gnomAD |
rs1239478092 | p.His380Arg | missense variant | - | NC_000017.11:g.72123996A>G | gnomAD |
rs1194444347 | p.Thr384Arg | missense variant | - | NC_000017.11:g.72124008C>G | TOPMed,gnomAD |
rs1194444347 | p.Thr384Met | missense variant | - | NC_000017.11:g.72124008C>T | TOPMed,gnomAD |
rs760346231 | p.Leu385Arg | missense variant | - | NC_000017.11:g.72124011T>G | ExAC,gnomAD |
rs1403005962 | p.Ser386Gly | missense variant | - | NC_000017.11:g.72124013A>G | TOPMed |
NCI-TCGA novel | p.Glu388Ter | frameshift | - | NC_000017.11:g.72124012_72124054GAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACG>- | NCI-TCGA |
rs763834941 | p.Glu388Lys | missense variant | - | NC_000017.11:g.72124019G>A | ExAC,gnomAD |
rs753584114 | p.Pro389Thr | missense variant | - | NC_000017.11:g.72124022C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly390ArgPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72124021_72124022insCC | NCI-TCGA |
rs778788591 | p.Gly390Ser | missense variant | - | NC_000017.11:g.72124025G>A | ExAC,gnomAD |
rs750284138 | p.Gly390Ala | missense variant | - | NC_000017.11:g.72124026G>C | ExAC,TOPMed,gnomAD |
rs1327441656 | p.Gln391Arg | missense variant | - | NC_000017.11:g.72124029A>G | gnomAD |
rs1016657347 | p.Gln393Arg | missense variant | - | NC_000017.11:g.72124035A>G | TOPMed |
RCV000414443 | p.Arg394Ter | nonsense | - | NC_000017.11:g.72124037C>T | ClinVar |
RCV000559431 | p.Arg394Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72124037C>T | ClinVar |
COSM5078379 | p.Arg394ProPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124036_72124037insC | NCI-TCGA Cosmic |
rs1057518216 | p.Arg394Ter | stop gained | - | NC_000017.11:g.72124037C>T | gnomAD |
COSM983756 | p.Thr395Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124040A>G | NCI-TCGA Cosmic |
rs1301255636 | p.Thr395Met | missense variant | - | NC_000017.11:g.72124041C>T | gnomAD |
COSM4729225 | p.His396ArgPheSerTerUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124040_72124041insCG | NCI-TCGA Cosmic |
rs1057524043 | p.Lys398Arg | missense variant | - | NC_000017.11:g.72124050A>G | - |
RCV000424986 | p.Lys398Arg | missense variant | - | NC_000017.11:g.72124050A>G | ClinVar |
rs1241721586 | p.Thr399Lys | missense variant | - | NC_000017.11:g.72124053C>A | gnomAD |
COSM1385640 | p.Glu400GlyPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124053_72124054insG | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Gln401Ter | stop gained | - | NC_000017.11:g.72124058C>T | NCI-TCGA |
NCI-TCGA novel | p.His406GlnPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72124073_72124074insA | NCI-TCGA |
rs771153279 | p.His406Gln | missense variant | - | NC_000017.11:g.72124075C>A | ExAC,gnomAD |
rs1351218311 | p.His406Arg | missense variant | - | NC_000017.11:g.72124074A>G | TOPMed |
rs1255091750 | p.Tyr407His | missense variant | - | NC_000017.11:g.72124076T>C | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser408ThrPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72124072_72124073insCACTA | NCI-TCGA |
rs1025099692 | p.Ser408Ile | missense variant | - | NC_000017.11:g.72124080G>T | TOPMed,gnomAD |
rs1420807868 | p.Gln410Leu | missense variant | - | NC_000017.11:g.72124086A>T | gnomAD |
rs1156784760 | p.Gln410His | missense variant | - | NC_000017.11:g.72124087G>T | gnomAD |
COSM1563675 | p.Gln411Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124088C>T | NCI-TCGA Cosmic |
COSM5073885 | p.Gln412Ter | stop gained | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124091C>T | NCI-TCGA Cosmic |
rs1341243329 | p.Gln412Lys | missense variant | - | NC_000017.11:g.72124091C>A | TOPMed |
NCI-TCGA novel | p.His413Gln | inframe deletion | - | NC_000017.11:g.72124096_72124098CTC>- | NCI-TCGA |
NCI-TCGA novel | p.His413LeuPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72124094_72124095insTG | NCI-TCGA |
rs772647517 | p.Ser414Leu | missense variant | - | NC_000017.11:g.72124098C>T | ExAC,gnomAD |
COSM1385643 | p.Gln416AsnPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124100C>- | NCI-TCGA Cosmic |
rs776205397 | p.Gln416Glu | missense variant | - | NC_000017.11:g.72124103C>G | ExAC,gnomAD |
rs886043831 | p.Gln417Lys | missense variant | - | NC_000017.11:g.72124106C>A | gnomAD |
rs760231551 | p.Gln417His | missense variant | - | NC_000017.11:g.72124108G>C | ExAC,TOPMed,gnomAD |
RCV000350079 | p.Gln417Ter | nonsense | - | NC_000017.11:g.72124106C>T | ClinVar |
rs1347733578 | p.Gln417Arg | missense variant | - | NC_000017.11:g.72124107A>G | gnomAD |
rs886043831 | p.Gln417Ter | stop gained | - | NC_000017.11:g.72124106C>T | gnomAD |
rs763744617 | p.Ile418Met | missense variant | - | NC_000017.11:g.72124111C>G | ExAC,TOPMed,gnomAD |
rs1374439151 | p.Ala419Thr | missense variant | - | NC_000017.11:g.72124112G>A | gnomAD |
NCI-TCGA novel | p.Tyr420Cys | missense variant | - | NC_000017.11:g.72124116A>G | NCI-TCGA |
RCV000413214 | p.Ser421Ter | frameshift | - | NC_000017.11:g.72124119_72124135del | ClinVar |
NCI-TCGA novel | p.Phe423SerPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72124124T>- | NCI-TCGA |
COSM5076428 | p.His427AsnPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124134_72124135insGA | NCI-TCGA Cosmic |
rs201994187 | p.His427Arg | missense variant | - | NC_000017.11:g.72124137A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs201994187 | p.His427Leu | missense variant | - | NC_000017.11:g.72124137A>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs750242391 | p.Tyr428His | missense variant | - | NC_000017.11:g.72124139T>C | ExAC,gnomAD |
rs758181921 | p.Ser429Arg | missense variant | - | NC_000017.11:g.72124144C>A | ExAC,TOPMed,gnomAD |
rs1221019467 | p.Ser429Gly | missense variant | - | NC_000017.11:g.72124142A>G | TOPMed,gnomAD |
RCV000756681 | p.Ser429Arg | missense variant | - | NC_000017.11:g.72124144C>A | ClinVar |
rs886042200 | p.Pro430Ser | missense variant | - | NC_000017.11:g.72124145C>T | TOPMed,gnomAD |
RCV000323482 | p.Pro430Ser | missense variant | - | NC_000017.11:g.72124145C>T | ClinVar |
rs1441332525 | p.Pro434Leu | missense variant | - | NC_000017.11:g.72124158C>T | TOPMed |
COSM4729232 | p.Ile435SerPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124157C>- | NCI-TCGA Cosmic |
rs202126529 | p.Ile435Val | missense variant | - | NC_000017.11:g.72124160A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1218723878 | p.Thr436Ala | missense variant | - | NC_000017.11:g.72124163A>G | TOPMed |
rs1410903036 | p.Arg437Leu | missense variant | - | NC_000017.11:g.72124167G>T | gnomAD |
rs1189441865 | p.Arg437Cys | missense variant | - | NC_000017.11:g.72124166C>T | TOPMed,gnomAD |
rs1410903036 | p.Arg437His | missense variant | - | NC_000017.11:g.72124167G>A | gnomAD |
rs1189441865 | p.Arg437Gly | missense variant | - | NC_000017.11:g.72124166C>G | TOPMed,gnomAD |
COSM1385644 | p.Tyr440ValPheSerTerUnkUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124173_72124174insG | NCI-TCGA Cosmic |
rs80338688 | p.Tyr440Ter | stop gained | - | NC_000017.11:g.72124177C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000020282 | p.Tyr440Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72124177C>A | ClinVar |
RCV000310390 | p.Tyr440Ter | nonsense | - | NC_000017.11:g.72124177C>A | ClinVar |
rs80338688 | p.Tyr440Ter | stop gained | - | NC_000017.11:g.72124177C>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
RCV000321802 | p.Tyr440Ter | nonsense | - | NC_000017.11:g.72124177C>G | ClinVar |
RCV000020283 | p.Tyr440Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72124177C>G | ClinVar |
RCV000002617 | p.Tyr440Ter | nonsense | Campomelic dysplasia with autosomal sex reversal | NC_000017.11:g.72124177C>G | ClinVar |
NCI-TCGA novel | p.Asp441GlyPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72124177_72124178insG | NCI-TCGA |
rs746230444 | p.Asp441Gly | missense variant | - | NC_000017.11:g.72124179A>G | ExAC,gnomAD |
rs372158546 | p.Asp441Asn | missense variant | - | NC_000017.11:g.72124178G>A | ESP,ExAC,TOPMed,gnomAD |
rs372158546 | p.Asp441Tyr | missense variant | - | NC_000017.11:g.72124178G>T | ESP,ExAC,TOPMed,gnomAD |
COSM473291 | p.Asp444Glu | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124189C>A | NCI-TCGA Cosmic |
rs551719325 | p.Asp444Asn | missense variant | - | NC_000017.11:g.72124187G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs551719325 | p.Asp444Tyr | missense variant | - | NC_000017.11:g.72124187G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs776117304 | p.Gln446His | missense variant | - | NC_000017.11:g.72124195G>C | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Ser448Phe | missense variant | - | NC_000017.11:g.72124200C>T | NCI-TCGA |
NCI-TCGA novel | p.Ser448Ter | frameshift | - | NC_000017.11:g.72124200_72124201CC>- | NCI-TCGA |
rs1339956380 | p.Ser449Asn | missense variant | - | NC_000017.11:g.72124203G>A | TOPMed |
rs747539655 | p.Ser450Cys | missense variant | - | NC_000017.11:g.72124206C>G | ExAC,gnomAD |
NCI-TCGA novel | p.Tyr451PhePheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72124204_72124205insTCCT | NCI-TCGA |
rs768237701 | p.Ser453Asn | missense variant | - | NC_000017.11:g.72124215G>A | ExAC,gnomAD |
NCI-TCGA novel | p.Ala455Gly | missense variant | - | NC_000017.11:g.72124221C>G | NCI-TCGA |
rs761310703 | p.Ala455Pro | missense variant | - | NC_000017.11:g.72124220G>C | ExAC,gnomAD |
rs1298811626 | p.Ala455Val | missense variant | - | NC_000017.11:g.72124221C>T | TOPMed |
NCI-TCGA novel | p.Ala456Glu | missense variant | - | NC_000017.11:g.72124224C>A | NCI-TCGA |
rs764925787 | p.Ala456Val | missense variant | - | NC_000017.11:g.72124224C>T | ExAC,gnomAD |
rs772810129 | p.Gly457Ser | missense variant | - | NC_000017.11:g.72124226G>A | ExAC,gnomAD |
rs375186985 | p.Gly457Asp | missense variant | - | NC_000017.11:g.72124227G>A | ESP,ExAC,TOPMed,gnomAD |
RCV000578277 | p.Gln458Ter | nonsense | Camptomelic dysplasia | NC_000017.11:g.72124229C>T | ClinVar |
rs1555629443 | p.Gln458Ter | stop gained | - | NC_000017.11:g.72124229C>T | - |
COSM4927892 | p.Gly459Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124233G>T | NCI-TCGA Cosmic |
rs1359136483 | p.Gly459Ser | missense variant | - | NC_000017.11:g.72124232G>A | TOPMed |
rs1298027378 | p.Gly459Asp | missense variant | - | NC_000017.11:g.72124233G>A | TOPMed |
rs749321589 | p.Gly461Ser | missense variant | - | NC_000017.11:g.72124238G>A | ExAC,gnomAD |
rs1421182389 | p.Phe466Leu | missense variant | - | NC_000017.11:g.72124253T>C | gnomAD |
rs1451788454 | p.Thr467Ile | missense variant | - | NC_000017.11:g.72124257C>T | gnomAD |
rs769269532 | p.Met469Val | missense variant | - | NC_000017.11:g.72124262A>G | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Asn470Asp | missense variant | - | NC_000017.11:g.72124265A>G | NCI-TCGA |
rs1370265316 | p.Pro471Ser | missense variant | - | NC_000017.11:g.72124268C>T | gnomAD |
rs757341162 | p.Ala472Val | missense variant | - | NC_000017.11:g.72124272C>T | ExAC |
rs1336660139 | p.Ala472Thr | missense variant | - | NC_000017.11:g.72124271G>A | gnomAD |
rs533961694 | p.Gln473His | missense variant | - | NC_000017.11:g.72124276G>T | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1064796718 | p.Gln473Arg | missense variant | - | NC_000017.11:g.72124275A>G | - |
RCV000485037 | p.Gln473Arg | missense variant | - | NC_000017.11:g.72124275A>G | ClinVar |
COSM983759 | p.Arg474Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124277C>T | NCI-TCGA Cosmic |
rs746125506 | p.Arg474Leu | missense variant | - | NC_000017.11:g.72124278G>T | ExAC,gnomAD |
rs746125506 | p.Arg474His | missense variant | - | NC_000017.11:g.72124278G>A | ExAC,gnomAD |
rs1289718828 | p.Pro475Leu | missense variant | - | NC_000017.11:g.72124281C>T | gnomAD |
rs1057518669 | p.Met476Thr | missense variant | - | NC_000017.11:g.72124284T>C | - |
RCV000415154 | p.Met476Thr | missense variant | Camptomelic dysplasia | NC_000017.11:g.72124284T>C | ClinVar |
rs1487296092 | p.Met476Val | missense variant | - | NC_000017.11:g.72124283A>G | TOPMed |
rs1367603516 | p.Met476Ile | missense variant | - | NC_000017.11:g.72124285G>A | gnomAD |
NCI-TCGA novel | p.Thr478HisPheSerTerUnkUnkUnk | frameshift | - | NC_000017.11:g.72124287_72124288insC | NCI-TCGA |
COSM5071119 | p.Ile480ProPheSerTerUnkUnk | frameshift | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124286_72124287insAC | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ala481Gly | missense variant | - | NC_000017.11:g.72124299C>G | NCI-TCGA |
rs1348267601 | p.Ala481Thr | missense variant | - | NC_000017.11:g.72124298G>A | gnomAD |
rs865937701 | p.Asp482Asn | missense variant | - | NC_000017.11:g.72124301G>A | TOPMed,gnomAD |
rs769297621 | p.Thr483Asn | missense variant | - | NC_000017.11:g.72124305C>A | ExAC,gnomAD |
COSM983760 | p.Ser484Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124307T>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Ser484Phe | missense variant | - | NC_000017.11:g.72124308C>T | NCI-TCGA |
rs777058267 | p.Gly485Trp | missense variant | - | NC_000017.11:g.72124310G>T | ExAC,gnomAD |
rs1287394939 | p.Val486Ile | missense variant | - | NC_000017.11:g.72124313G>A | TOPMed |
rs1187474984 | p.Ile489Val | missense variant | - | NC_000017.11:g.72124322A>G | gnomAD |
rs769231694 | p.Pro490Leu | missense variant | - | NC_000017.11:g.72124326C>T | ExAC,gnomAD |
rs1389968384 | p.Pro490Ser | missense variant | - | NC_000017.11:g.72124325C>T | gnomAD |
rs1208288758 | p.Gln491Glu | missense variant | - | NC_000017.11:g.72124328C>G | TOPMed |
COSM3890295 | p.Ser494Asn | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000017.11:g.72124338G>A | NCI-TCGA Cosmic |
rs189130850 | p.Ser494Arg | missense variant | - | NC_000017.11:g.72124339C>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs774137173 | p.Pro495Leu | missense variant | - | NC_000017.11:g.72124341C>T | ExAC |
NCI-TCGA novel | p.Gln496ProPheSerTerUnkUnk | frameshift | - | NC_000017.11:g.72124338_72124339insC | NCI-TCGA |
NCI-TCGA novel | p.His497Asn | missense variant | - | NC_000017.11:g.72124346C>A | NCI-TCGA |
NCI-TCGA novel | p.His497Tyr | insertion | - | NC_000017.11:g.72124346_72124347insACT | NCI-TCGA |
rs759413061 | p.His497Arg | missense variant | - | NC_000017.11:g.72124347A>G | ExAC,gnomAD |
rs1319061093 | p.Pro501Leu | missense variant | - | NC_000017.11:g.72124359C>T | gnomAD |
rs774375417 | p.Val502Ile | missense variant | - | NC_000017.11:g.72124361G>A | TOPMed |
NCI-TCGA novel | p.Thr504Ile | missense variant | - | NC_000017.11:g.72124368C>T | NCI-TCGA |
rs149888060 | p.Thr504Ala | missense variant | - | NC_000017.11:g.72124367A>G | ESP,ExAC,TOPMed,gnomAD |
rs1278118990 | p.Thr507Ser | missense variant | - | NC_000017.11:g.72124377C>G | TOPMed |
rs757337660 | p.Pro509Ser | missense variant | - | NC_000017.11:g.72124382C>T | ExAC,gnomAD |
COSM437265 | p.Ter510SerGluUnkThrTerUnkUnk | stop lost | Variant assessed as Somatic; HIGH impact. | NC_000017.11:g.72124386G>C | NCI-TCGA Cosmic |