rs1269740294 | p.Ser2Leu | missense variant | - | NC_000013.11:g.94596132G>A | gnomAD |
rs1434083022 | p.Ser2Ala | missense variant | - | NC_000013.11:g.94596133A>C | gnomAD |
rs374701618 | p.Ala3Val | missense variant | - | NC_000013.11:g.94596129G>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs755749986 | p.Ala4Val | missense variant | - | NC_000013.11:g.94596126G>A | ExAC,gnomAD |
rs765805073 | p.Ala4Thr | missense variant | - | NC_000013.11:g.94596127C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Cys5Trp | missense variant | - | NC_000013.11:g.94596122A>C | NCI-TCGA |
rs1261136477 | p.Cys5Gly | missense variant | - | NC_000013.11:g.94596124A>C | gnomAD |
rs766990686 | p.Glu7Asp | missense variant | - | NC_000013.11:g.94596116C>A | ExAC,gnomAD |
rs1443502871 | p.Glu7Lys | missense variant | - | NC_000013.11:g.94596118C>T | TOPMed |
rs200877310 | p.Glu8Asp | missense variant | - | NC_000013.11:g.94596113T>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs1181173239 | p.Glu8Gln | missense variant | - | NC_000013.11:g.94596115C>G | TOPMed |
rs202097673 | p.Pro9Ser | missense variant | - | NC_000013.11:g.94596112G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs202097673 | p.Pro9Ala | missense variant | - | NC_000013.11:g.94596112G>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs762709267 | p.Pro9Arg | missense variant | - | NC_000013.11:g.94596111G>C | ExAC,gnomAD |
rs745748712 | p.Trp10Cys | missense variant | - | NC_000013.11:g.94596107C>G | ExAC,gnomAD |
rs370526233 | p.Trp10Arg | missense variant | - | NC_000013.11:g.94596109A>G | ESP,ExAC,TOPMed,gnomAD |
rs370526233 | p.Trp10Gly | missense variant | - | NC_000013.11:g.94596109A>C | ESP,ExAC,TOPMed,gnomAD |
rs151012980 | p.Leu12Phe | missense variant | - | NC_000013.11:g.94596103G>A | ESP,ExAC,TOPMed,gnomAD |
rs771002382 | p.Pro13Ser | missense variant | - | NC_000013.11:g.94596100G>A | ExAC,TOPMed,gnomAD |
rs1247681682 | p.Pro13Leu | missense variant | - | NC_000013.11:g.94596099G>A | gnomAD |
rs937003782 | p.Gly14Arg | missense variant | - | NC_000013.11:g.94596097C>G | TOPMed,gnomAD |
rs34991132 | p.Gly15Arg | missense variant | - | NC_000013.11:g.94596094C>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs34991132 | p.Gly15Ser | missense variant | - | NC_000013.11:g.94596094C>T | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs34991132 | p.Gly15Ser | missense variant | - | NC_000013.11:g.94596094C>T | UniProt,dbSNP |
VAR_049122 | p.Gly15Ser | missense variant | - | NC_000013.11:g.94596094C>T | UniProt |
rs758873634 | p.Phe16Ile | missense variant | - | NC_000013.11:g.94596091A>T | ExAC,gnomAD |
rs1157277857 | p.Ala17Val | missense variant | - | NC_000013.11:g.94596087G>A | gnomAD |
rs748516684 | p.Lys18Arg | missense variant | - | NC_000013.11:g.94596084T>C | ExAC,gnomAD |
rs1306116133 | p.Thr23Ser | missense variant | - | NC_000013.11:g.94596069G>C | TOPMed |
rs1180626621 | p.Gly24Ser | missense variant | - | NC_000013.11:g.94596067C>T | gnomAD |
rs779619758 | p.Ala26Thr | missense variant | - | NC_000013.11:g.94596061C>T | ExAC,gnomAD |
rs779619758 | p.Ala26Ser | missense variant | - | NC_000013.11:g.94596061C>A | ExAC,gnomAD |
NCI-TCGA novel | p.Gly27Asp | missense variant | - | NC_000013.11:g.94596057C>T | NCI-TCGA |
rs1241216031 | p.Phe28Leu | missense variant | - | NC_000013.11:g.94596053G>T | gnomAD |
rs751069260 | p.Ala30Val | missense variant | - | NC_000013.11:g.94593905G>A | ExAC,gnomAD |
rs1263619932 | p.Ser31Leu | missense variant | - | NC_000013.11:g.94593902G>A | gnomAD |
rs765037542 | p.His32Arg | missense variant | - | NC_000013.11:g.94593899T>C | ExAC,gnomAD |
rs752306743 | p.His32Tyr | missense variant | - | NC_000013.11:g.94593900G>A | ExAC,gnomAD |
rs144478268 | p.Met33Val | missense variant | - | NC_000013.11:g.94593897T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1039955963 | p.Met33Thr | missense variant | - | NC_000013.11:g.94593896A>G | gnomAD |
rs1250187037 | p.Val35Ile | missense variant | - | NC_000013.11:g.94593891C>T | gnomAD |
rs766334560 | p.Glu39Gly | missense variant | - | NC_000013.11:g.94593878T>C | ExAC,gnomAD |
rs1280468078 | p.Asp40Gly | missense variant | - | NC_000013.11:g.94593875T>C | gnomAD |
rs773350207 | p.Ile46Val | missense variant | - | NC_000013.11:g.94593858T>C | ExAC,gnomAD |
rs773350207 | p.Ile46Leu | missense variant | - | NC_000013.11:g.94593858T>G | ExAC,gnomAD |
rs1411467881 | p.Ile47Val | missense variant | - | NC_000013.11:g.94593855T>C | TOPMed |
NCI-TCGA novel | p.Leu49Val | missense variant | - | NC_000013.11:g.94593849G>C | NCI-TCGA |
NCI-TCGA novel | p.Asp50Tyr | missense variant | - | NC_000013.11:g.94593846C>A | NCI-TCGA |
rs1231614540 | p.Tyr54Cys | missense variant | - | NC_000013.11:g.94592302T>C | TOPMed |
rs761955397 | p.Cys55Ser | missense variant | - | NC_000013.11:g.94592299C>G | ExAC,gnomAD |
COSM4048787 | p.Ala56Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94592296G>A | NCI-TCGA Cosmic |
rs764401457 | p.Asn60Lys | missense variant | - | NC_000013.11:g.94592283A>T | ExAC,gnomAD |
rs1378049960 | p.Asn60Thr | missense variant | - | NC_000013.11:g.94592284T>G | TOPMed,gnomAD |
RCV000624236 | p.Asn60Lys | missense variant | Inborn genetic diseases | NC_000013.11:g.94592283A>T | ClinVar |
rs763028354 | p.Ile64Thr | missense variant | - | NC_000013.11:g.94592272A>G | ExAC,gnomAD |
rs775927957 | p.Ser65Phe | missense variant | - | NC_000013.11:g.94592269G>A | ExAC,TOPMed,gnomAD |
rs770016149 | p.Gln68Arg | missense variant | - | NC_000013.11:g.94592260T>C | ExAC,TOPMed,gnomAD |
rs1221199075 | p.Lys71Arg | missense variant | - | NC_000013.11:g.94592251T>C | gnomAD |
COSM948927 | p.Lys71Thr | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94592251T>G | NCI-TCGA Cosmic |
COSM948926 | p.Phe72Cys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94592248A>C | NCI-TCGA Cosmic |
rs1267795918 | p.Ile73Val | missense variant | - | NC_000013.11:g.94592246T>C | gnomAD |
rs746410117 | p.Gln74His | missense variant | - | NC_000013.11:g.94592241C>A | ExAC,gnomAD |
rs1220935898 | p.Ile77Met | missense variant | - | NC_000013.11:g.94590935T>C | gnomAD |
rs573212730 | p.Ile77Val | missense variant | - | NC_000013.11:g.94590937T>C | 1000Genomes,ExAC,gnomAD |
rs146404830 | p.Ile77Thr | missense variant | - | NC_000013.11:g.94590936A>G | 1000Genomes,ExAC,gnomAD |
rs1322347232 | p.Cys78Arg | missense variant | - | NC_000013.11:g.94590934A>G | TOPMed,gnomAD |
NCI-TCGA novel | p.Ser80Cys | missense variant | - | NC_000013.11:g.94590927G>C | NCI-TCGA |
rs1290576275 | p.Phe82Tyr | missense variant | - | NC_000013.11:g.94590921A>T | gnomAD |
NCI-TCGA novel | p.Val83Gly | missense variant | - | NC_000013.11:g.94590918A>C | NCI-TCGA |
rs373246659 | p.Val83Ala | missense variant | - | NC_000013.11:g.94590918A>G | ESP,ExAC,TOPMed,gnomAD |
rs1229206078 | p.Glu88Lys | missense variant | - | NC_000013.11:g.94590904C>T | TOPMed |
rs751503526 | p.Thr89Lys | missense variant | - | NC_000013.11:g.94590900G>T | ExAC,TOPMed,gnomAD |
rs724160004 | p.Glu90Gly | missense variant | - | NC_000013.11:g.94590897T>C | ExAC,TOPMed,gnomAD |
RCV000149819 | p.Glu90Gly | missense variant | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94590897T>C | ClinVar |
rs777933953 | p.Glu90Lys | missense variant | - | NC_000013.11:g.94590898C>T | ExAC,gnomAD |
COSM264019 | p.Glu90Asp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94590896C>A | NCI-TCGA Cosmic |
RCV000149821 | p.Lys91Ter | frameshift | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94590896_94590897CT[1] | ClinVar |
rs765371325 | p.Ile94Met | missense variant | - | NC_000013.11:g.94590884T>C | ExAC,TOPMed,gnomAD |
rs1429058726 | p.Ile94Thr | missense variant | - | NC_000013.11:g.94590885A>G | gnomAD |
rs753002918 | p.Ile94Val | missense variant | - | NC_000013.11:g.94590886T>C | ExAC,gnomAD |
RCV000622534 | p.Leu96Ile | missense variant | Inborn genetic diseases | NC_000013.11:g.94590880G>T | ClinVar |
rs754214510 | p.Leu96Ile | missense variant | - | NC_000013.11:g.94590880G>T | ExAC,gnomAD |
rs770771817 | p.His97Tyr | missense variant | - | NC_000013.11:g.94590877G>A | gnomAD |
rs727502808 | p.Phe98Leu | missense variant | - | NC_000013.11:g.94590872A>C | TOPMed,gnomAD |
RCV000149820 | p.Phe98Leu | missense variant | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94590872A>C | ClinVar |
rs1267159417 | p.Ala99Val | missense variant | - | NC_000013.11:g.94590870G>A | TOPMed |
rs140430952 | p.Ala100Thr | missense variant | - | NC_000013.11:g.94590868C>T | ESP,ExAC,TOPMed,gnomAD |
rs140430952 | p.Ala100Ser | missense variant | - | NC_000013.11:g.94590868C>A | ESP,ExAC,TOPMed,gnomAD |
rs140430952 | p.Ala100Ser | missense variant | Catel-Manzke syndrome (CATMANS) | NC_000013.11:g.94590868C>A | UniProt,dbSNP |
VAR_072684 | p.Ala100Ser | missense variant | Catel-Manzke syndrome (CATMANS) | NC_000013.11:g.94590868C>A | UniProt |
rs374669948 | p.Ala100Val | missense variant | - | NC_000013.11:g.94590867G>A | ESP,ExAC,TOPMed,gnomAD |
RCV000624586 | p.Ala100Ser | missense variant | Inborn genetic diseases | NC_000013.11:g.94590868C>A | ClinVar |
RCV000149817 | p.Ala100Ser | missense variant | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94590868C>A | ClinVar |
rs1264976815 | p.Gln101Pro | missense variant | - | NC_000013.11:g.94590864T>G | TOPMed,gnomAD |
rs775273838 | p.Thr102Ile | missense variant | - | NC_000013.11:g.94590861G>A | ExAC,TOPMed,gnomAD |
rs147139240 | p.His103Pro | missense variant | - | NC_000013.11:g.94590858T>G | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs1461943144 | p.His103Tyr | missense variant | - | NC_000013.11:g.94590859G>A | TOPMed |
rs147139240 | p.His103Arg | missense variant | - | NC_000013.11:g.94590858T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs147139240 | p.His103Leu | missense variant | - | NC_000013.11:g.94590858T>A | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
rs781164643 | p.Val104Ile | missense variant | - | NC_000013.11:g.94590856C>T | ExAC |
rs774871143 | p.Asp105Glu | missense variant | - | NC_000013.11:g.94583235A>T | ExAC,TOPMed,gnomAD |
rs1232200518 | p.Ser107Pro | missense variant | - | NC_000013.11:g.94583231A>G | TOPMed,gnomAD |
rs139304427 | p.Val109Leu | missense variant | - | NC_000013.11:g.94583225C>A | ESP,ExAC,TOPMed,gnomAD |
rs139304427 | p.Val109Ile | missense variant | - | NC_000013.11:g.94583225C>T | ESP,ExAC,TOPMed,gnomAD |
rs202068418 | p.Arg110His | missense variant | - | NC_000013.11:g.94583221C>T | ExAC,TOPMed,gnomAD |
rs746793935 | p.Arg110Cys | missense variant | - | NC_000013.11:g.94583222G>A | ExAC,TOPMed,gnomAD |
rs748051295 | p.Ala111Gly | missense variant | - | NC_000013.11:g.94583218G>C | ExAC,gnomAD |
rs771915710 | p.Ala111Thr | missense variant | - | NC_000013.11:g.94583219C>T | ExAC,gnomAD |
rs778886182 | p.Glu113Ter | stop gained | - | NC_000013.11:g.94583213C>A | ExAC,gnomAD |
rs189838148 | p.Tyr116Cys | missense variant | - | NC_000013.11:g.94583203T>C | 1000Genomes,ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val117Ala | missense variant | - | NC_000013.11:g.94583200A>G | NCI-TCGA |
rs559787839 | p.Asn118Asp | missense variant | - | NC_000013.11:g.94583198T>C | 1000Genomes,ExAC,TOPMed,gnomAD |
rs780215822 | p.Asn118Ser | missense variant | - | NC_000013.11:g.94583197T>C | ExAC,TOPMed,gnomAD |
rs375550384 | p.Tyr120His | missense variant | - | NC_000013.11:g.94583192A>G | ESP,ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Tyr120Cys | missense variant | - | NC_000013.11:g.94583191T>C | NCI-TCGA |
rs368046527 | p.Thr122Ile | missense variant | - | NC_000013.11:g.94583185G>A | ESP,ExAC,gnomAD |
rs767859800 | p.His123Gln | missense variant | - | NC_000013.11:g.94583181G>T | ExAC,TOPMed,gnomAD |
NCI-TCGA novel | p.Val124Gly | missense variant | - | NC_000013.11:g.94583179A>C | NCI-TCGA |
rs757740323 | p.Val124Ile | missense variant | - | NC_000013.11:g.94583180C>T | ExAC,gnomAD |
rs1282092360 | p.Val126Ile | missense variant | - | NC_000013.11:g.94583174C>T | TOPMed,gnomAD |
rs1214002110 | p.Ala129Thr | missense variant | - | NC_000013.11:g.94583165C>T | gnomAD |
rs1352388212 | p.Ala129Val | missense variant | - | NC_000013.11:g.94583164G>A | gnomAD |
rs752056819 | p.His130Tyr | missense variant | - | NC_000013.11:g.94583162G>A | ExAC,gnomAD |
rs764890113 | p.His130Arg | missense variant | - | NC_000013.11:g.94583161T>C | ExAC,gnomAD |
rs1396984304 | p.Val140Ile | missense variant | - | NC_000013.11:g.94583132C>T | gnomAD |
COSM4048785 | p.Val140Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94583131A>G | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Asp143Asn | missense variant | - | NC_000013.11:g.94583123C>T | NCI-TCGA |
rs776492009 | p.Val145Ile | missense variant | - | NC_000013.11:g.94583117C>T | ExAC,TOPMed,gnomAD |
rs1361360452 | p.Gly148Asp | missense variant | - | NC_000013.11:g.94583107C>T | gnomAD |
rs1014479540 | p.Gly148Ser | missense variant | - | NC_000013.11:g.94583108C>T | TOPMed |
rs76632425 | p.Asp151Tyr | missense variant | - | NC_000013.11:g.94583099C>A | ExAC,TOPMed,gnomAD |
rs76632425 | p.Asp151Asn | missense variant | - | NC_000013.11:g.94583099C>T | ExAC,TOPMed,gnomAD |
rs1168305530 | p.Phe154Leu | missense variant | - | NC_000013.11:g.94581186A>G | TOPMed,gnomAD |
rs753410304 | p.Asp155Val | missense variant | - | NC_000013.11:g.94581182T>A | ExAC,TOPMed,gnomAD |
rs753410304 | p.Asp155Gly | missense variant | - | NC_000013.11:g.94581182T>C | ExAC,TOPMed,gnomAD |
rs1442649493 | p.Glu156Gly | missense variant | - | NC_000013.11:g.94581179T>C | TOPMed |
rs765919204 | p.Ser158Leu | missense variant | - | NC_000013.11:g.94581173G>A | ExAC,TOPMed,gnomAD |
rs772868057 | p.Gln161Glu | missense variant | - | NC_000013.11:g.94581165G>C | ExAC,TOPMed,gnomAD |
rs772868057 | p.Gln161Ter | stop gained | - | NC_000013.11:g.94581165G>A | ExAC,TOPMed,gnomAD |
rs1266030268 | p.Thr163Ala | missense variant | - | NC_000013.11:g.94581159T>C | TOPMed,gnomAD |
rs767261051 | p.Asn164His | missense variant | - | NC_000013.11:g.94581156T>G | ExAC,gnomAD |
rs767261051 | p.Asn164Asp | missense variant | - | NC_000013.11:g.94581156T>C | ExAC,gnomAD |
rs761635228 | p.Pro165Leu | missense variant | - | NC_000013.11:g.94581152G>A | ExAC,gnomAD |
rs761635228 | p.Pro165Arg | missense variant | - | NC_000013.11:g.94581152G>C | ExAC,gnomAD |
rs1315778035 | p.Tyr166His | missense variant | - | NC_000013.11:g.94581150A>G | TOPMed |
rs774337095 | p.Tyr166Cys | missense variant | - | NC_000013.11:g.94581149T>C | ExAC,gnomAD |
rs749160631 | p.Ala167Thr | missense variant | - | NC_000013.11:g.94581147C>T | ExAC,gnomAD |
rs769873986 | p.Ser168Ala | missense variant | - | NC_000013.11:g.94581144A>C | ExAC,gnomAD |
NCI-TCGA novel | p.Ser169Cys | missense variant | - | NC_000013.11:g.94581140G>C | NCI-TCGA |
NCI-TCGA novel | p.Ala172Asp | missense variant | - | NC_000013.11:g.94581131G>T | NCI-TCGA |
COSM3399459 | p.Cys175Trp | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94581121A>C | NCI-TCGA Cosmic |
rs1382743725 | p.Val177Leu | missense variant | - | NC_000013.11:g.94581117C>A | TOPMed |
rs1443138467 | p.Gln178Pro | missense variant | - | NC_000013.11:g.94581113T>G | gnomAD |
rs781446713 | p.Gln178Ter | stop gained | - | NC_000013.11:g.94581114G>A | ExAC,gnomAD |
rs771269493 | p.Ser179Thr | missense variant | - | NC_000013.11:g.94581111A>T | ExAC,gnomAD |
rs747362303 | p.Tyr180Asn | missense variant | - | NC_000013.11:g.94581108A>T | ExAC,gnomAD |
rs1244338556 | p.Tyr180Cys | missense variant | - | NC_000013.11:g.94581107T>C | TOPMed |
rs778224794 | p.Tyr180Ter | stop gained | - | NC_000013.11:g.94581106G>C | ExAC,TOPMed,gnomAD |
rs1419957473 | p.Glu182Lys | missense variant | - | NC_000013.11:g.94581102C>T | gnomAD |
rs370484533 | p.Gln183Ter | stop gained | - | NC_000013.11:g.94581099G>A | ExAC,gnomAD |
rs1044523436 | p.Gln183Arg | missense variant | - | NC_000013.11:g.94581098T>C | TOPMed,gnomAD |
rs1376678181 | p.Lys185Thr | missense variant | - | NC_000013.11:g.94581092T>G | gnomAD |
rs1376678181 | p.Lys185Arg | missense variant | - | NC_000013.11:g.94581092T>C | gnomAD |
NCI-TCGA novel | p.Pro187Ser | missense variant | - | NC_000013.11:g.94579950G>A | NCI-TCGA |
rs1183728299 | p.Val188Phe | missense variant | - | NC_000013.11:g.94579947C>A | TOPMed |
rs375494440 | p.Thr191Ile | missense variant | - | NC_000013.11:g.94579937G>A | ESP,ExAC,TOPMed,gnomAD |
rs748710870 | p.Ser193Asn | missense variant | - | NC_000013.11:g.94579931C>T | ExAC,TOPMed,gnomAD |
rs1351650281 | p.Pro199Ala | missense variant | - | NC_000013.11:g.94579914G>C | gnomAD |
rs1285368015 | p.Pro199Leu | missense variant | - | NC_000013.11:g.94579913G>A | gnomAD |
rs755643462 | p.Gln201His | missense variant | - | NC_000013.11:g.94579906T>G | ExAC,gnomAD |
rs1430841344 | p.Gln201Ter | stop gained | - | NC_000013.11:g.94579908G>A | TOPMed |
rs755643462 | p.Gln201His | missense variant | - | NC_000013.11:g.94579906T>A | ExAC,gnomAD |
COSM432617 | p.Glu204Lys | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94579899C>T | NCI-TCGA Cosmic |
rs774775351 | p.Val206Ile | missense variant | - | NC_000013.11:g.94578773C>T | ExAC,gnomAD |
NCI-TCGA novel | p.Phe210Val | missense variant | - | NC_000013.11:g.94578761A>C | NCI-TCGA |
rs1156262519 | p.Ile211Met | missense variant | - | NC_000013.11:g.94578756T>C | TOPMed |
rs1471988957 | p.Ile211Lys | missense variant | - | NC_000013.11:g.94578757A>T | TOPMed |
rs769212951 | p.Leu213Ser | missense variant | - | NC_000013.11:g.94578751A>G | ExAC,gnomAD |
rs749721449 | p.Leu213Phe | missense variant | - | NC_000013.11:g.94578750C>A | ExAC,gnomAD |
rs1405265903 | p.Gln215Ter | stop gained | - | NC_000013.11:g.94578746G>A | gnomAD |
rs1416599590 | p.Asn217Asp | missense variant | - | NC_000013.11:g.94578740T>C | TOPMed |
NCI-TCGA novel | p.Arg218Trp | missense variant | - | NC_000013.11:g.94578737T>A | NCI-TCGA |
COSM3417740 | p.Arg218Met | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94578736C>A | NCI-TCGA Cosmic |
rs1419150789 | p.Lys219Arg | missense variant | - | NC_000013.11:g.94578733T>C | gnomAD |
rs1167558041 | p.Cys220Arg | missense variant | - | NC_000013.11:g.94578731A>G | gnomAD |
rs777210874 | p.Cys221Ser | missense variant | - | NC_000013.11:g.94578168C>G | ExAC,TOPMed,gnomAD |
rs758048181 | p.Ile222Asn | missense variant | - | NC_000013.11:g.94578165A>T | ExAC,gnomAD |
rs1233005543 | p.His223Arg | missense variant | - | NC_000013.11:g.94578162T>C | gnomAD |
COSM5068857 | p.Ser225Pro | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94578157A>G | NCI-TCGA Cosmic |
rs753854206 | p.Gln228Pro | missense variant | - | NC_000013.11:g.94578147T>G | ExAC,gnomAD |
NCI-TCGA novel | p.Gln228Ter | stop gained | - | NC_000013.11:g.94578148G>A | NCI-TCGA |
rs766413844 | p.Thr229Pro | missense variant | - | NC_000013.11:g.94578145T>G | ExAC,gnomAD |
rs1183007382 | p.Thr229Arg | missense variant | - | NC_000013.11:g.94578144G>C | TOPMed |
rs756319678 | p.Arg230Gly | missense variant | - | NC_000013.11:g.94578142T>C | ExAC,TOPMed,gnomAD |
rs1357654176 | p.Asn231Ser | missense variant | - | NC_000013.11:g.94578138T>C | gnomAD |
rs544436734 | p.Tyr234His | missense variant | Catel-Manzke syndrome (CATMANS) | NC_000013.11:g.94578130A>G | UniProt,dbSNP |
VAR_072685 | p.Tyr234His | missense variant | Catel-Manzke syndrome (CATMANS) | NC_000013.11:g.94578130A>G | UniProt |
rs544436734 | p.Tyr234His | missense variant | - | NC_000013.11:g.94578130A>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs762149592 | p.Tyr234Phe | missense variant | - | NC_000013.11:g.94578129T>A | ExAC,gnomAD |
rs762149592 | p.Tyr234Cys | missense variant | - | NC_000013.11:g.94578129T>C | ExAC,gnomAD |
RCV000149818 | p.Tyr234His | missense variant | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94578130A>G | ClinVar |
rs1396930499 | p.Thr236Ala | missense variant | - | NC_000013.11:g.94578124T>C | gnomAD |
rs374757364 | p.Asp237His | missense variant | - | NC_000013.11:g.94578121C>G | ESP,ExAC,TOPMed,gnomAD |
rs374757364 | p.Asp237Asn | missense variant | - | NC_000013.11:g.94578121C>T | ESP,ExAC,TOPMed,gnomAD |
rs927214872 | p.Ala241Thr | missense variant | - | NC_000013.11:g.94578109C>T | TOPMed,gnomAD |
rs1177575428 | p.Phe242Leu | missense variant | - | NC_000013.11:g.94578106A>G | gnomAD |
rs763227888 | p.Leu243Pro | missense variant | - | NC_000013.11:g.94578102A>G | ExAC,gnomAD |
rs776126290 | p.Val245Ile | missense variant | - | NC_000013.11:g.94578097C>T | ExAC,gnomAD |
rs1171446283 | p.Lys247Arg | missense variant | - | NC_000013.11:g.94578090T>C | TOPMed |
COSM5070111 | p.Gly249Arg | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94578085C>T | NCI-TCGA Cosmic |
NCI-TCGA novel | p.Pro251Ser | missense variant | - | NC_000013.11:g.94578079G>A | NCI-TCGA |
NCI-TCGA novel | p.Ile254Met | missense variant | - | NC_000013.11:g.94578068A>C | NCI-TCGA |
rs1348044163 | p.Tyr255Cys | missense variant | - | NC_000013.11:g.94578066T>C | gnomAD |
NCI-TCGA novel | p.Asn256Lys | missense variant | - | NC_000013.11:g.94578062G>T | NCI-TCGA |
rs1372035000 | p.Ile257Val | missense variant | - | NC_000013.11:g.94578061T>C | TOPMed |
rs1335693810 | p.Gly258Arg | missense variant | - | NC_000013.11:g.94578058C>T | gnomAD |
rs772737712 | p.Phe261Tyr | missense variant | - | NC_000013.11:g.94578048A>T | ExAC,TOPMed,gnomAD |
rs771518626 | p.Met263Val | missense variant | - | NC_000013.11:g.94578043T>C | ExAC,gnomAD |
rs747879381 | p.Ser264Ter | stop gained | - | NC_000013.11:g.94578039G>C | ExAC,gnomAD |
NCI-TCGA novel | p.Gln267Ter | stop gained | - | NC_000013.11:g.94578031G>A | NCI-TCGA |
rs778393818 | p.Leu268Val | missense variant | - | NC_000013.11:g.94578028G>C | ExAC,TOPMed,gnomAD |
rs971659298 | p.Ala269Val | missense variant | - | NC_000013.11:g.94578024G>A | TOPMed |
rs768562809 | p.Glu271Ala | missense variant | - | NC_000013.11:g.94578018T>G | ExAC,gnomAD |
rs1453061175 | p.Glu271Asp | missense variant | - | NC_000013.11:g.94578017T>G | gnomAD |
NCI-TCGA novel | p.Glu271Ter | stop gained | - | NC_000013.11:g.94578019C>A | NCI-TCGA |
rs575808762 | p.Leu272Gln | missense variant | - | NC_000013.11:g.94578015A>T | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Leu272Pro | missense variant | - | NC_000013.11:g.94578015A>G | NCI-TCGA |
rs779935345 | p.Ile273Thr | missense variant | - | NC_000013.11:g.94578012A>G | ExAC |
rs756123613 | p.Ile273Met | missense variant | - | NC_000013.11:g.94578011T>C | ExAC,gnomAD |
rs140589210 | p.Gln274Glu | missense variant | - | NC_000013.11:g.94578010G>C | ESP,ExAC,TOPMed,gnomAD |
rs140589210 | p.Gln274Lys | missense variant | - | NC_000013.11:g.94578010G>T | ESP,ExAC,TOPMed,gnomAD |
rs140589210 | p.Gln274Ter | stop gained | - | NC_000013.11:g.94578010G>A | ESP,ExAC,TOPMed,gnomAD |
rs546237136 | p.Glu278Asp | missense variant | - | NC_000013.11:g.94577421C>G | 1000Genomes,ExAC,TOPMed,gnomAD |
rs529621348 | p.Thr279Pro | missense variant | - | NC_000013.11:g.94577420T>G | 1000Genomes,ExAC,gnomAD |
rs757419656 | p.Asn280Ser | missense variant | - | NC_000013.11:g.94577416T>C | ExAC,TOPMed,gnomAD |
rs1176849709 | p.Asn280Lys | missense variant | - | NC_000013.11:g.94577415A>T | gnomAD |
rs560513141 | p.Glu284Ala | missense variant | - | NC_000013.11:g.94577404T>G | 1000Genomes,ExAC,gnomAD |
NCI-TCGA novel | p.Met285Ile | missense variant | - | NC_000013.11:g.94577400C>A | NCI-TCGA |
COSM948923 | p.Met285Val | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94577402T>C | NCI-TCGA Cosmic |
rs1231705469 | p.Glu286Lys | missense variant | - | NC_000013.11:g.94577399C>T | TOPMed |
rs1337402058 | p.Trp288Cys | missense variant | - | NC_000013.11:g.94577391C>A | gnomAD |
NCI-TCGA novel | p.Trp288LeuPheSerTerUnk | frameshift | - | NC_000013.11:g.94577392_94577393insA | NCI-TCGA |
NCI-TCGA novel | p.Val289Ile | missense variant | - | NC_000013.11:g.94577390C>T | NCI-TCGA |
COSM4048783 | p.Val289Ala | missense variant | Variant assessed as Somatic; MODERATE impact. | NC_000013.11:g.94577389A>G | NCI-TCGA Cosmic |
rs544524588 | p.Tyr291Phe | missense variant | - | NC_000013.11:g.94577383T>A | 1000Genomes |
rs1276588170 | p.Val292Phe | missense variant | - | NC_000013.11:g.94577381C>A | gnomAD |
rs758582500 | p.Asp294His | missense variant | - | NC_000013.11:g.94577375C>G | ExAC,gnomAD |
rs724160005 | p.Asn298Asp | missense variant | - | NC_000013.11:g.94576404T>C | - |
rs769779710 | p.Asn298Ser | missense variant | - | NC_000013.11:g.94576403T>C | ExAC,TOPMed,gnomAD |
RCV000149822 | p.Asn298Asp | missense variant | Catel Manzke syndrome (CATMANS) | NC_000013.11:g.94576404T>C | ClinVar |
rs376831797 | p.Asp299Asn | missense variant | - | NC_000013.11:g.94576401C>T | ESP,ExAC,TOPMed,gnomAD |
rs1396784266 | p.Asp299Val | missense variant | - | NC_000013.11:g.94576400T>A | gnomAD |
rs376831797 | p.Asp299Tyr | missense variant | - | NC_000013.11:g.94576401C>A | ESP,ExAC,TOPMed,gnomAD |
rs1393932328 | p.Met300Ile | missense variant | - | NC_000013.11:g.94576396C>A | gnomAD |
rs1169271255 | p.Met300Val | missense variant | - | NC_000013.11:g.94576398T>C | gnomAD |
rs1432373497 | p.Met300Thr | missense variant | - | NC_000013.11:g.94576397A>G | gnomAD |
rs1181560124 | p.Met304Thr | missense variant | - | NC_000013.11:g.94576385A>G | gnomAD |
rs1438743391 | p.Met304Ile | missense variant | - | NC_000013.11:g.94576384C>A | TOPMed,gnomAD |
rs367576453 | p.Met304Val | missense variant | - | NC_000013.11:g.94576386T>C | ESP,ExAC,TOPMed,gnomAD |
rs1438743391 | p.Met304Ile | missense variant | - | NC_000013.11:g.94576384C>T | TOPMed,gnomAD |
rs777740428 | p.Lys305Gln | missense variant | - | NC_000013.11:g.94576383T>G | ExAC,TOPMed,gnomAD |
rs748405605 | p.His310Arg | missense variant | - | NC_000013.11:g.94576367T>C | ExAC,TOPMed,gnomAD |
rs1281154644 | p.His310Tyr | missense variant | - | NC_000013.11:g.94576368G>A | gnomAD |
rs138907959 | p.Leu312Phe | missense variant | - | NC_000013.11:g.94576360T>A | ESP,TOPMed |
rs1369644811 | p.Gly313Arg | missense variant | - | NC_000013.11:g.94576359C>T | gnomAD |
rs1277639459 | p.Gly313Val | missense variant | - | NC_000013.11:g.94576358C>A | TOPMed,gnomAD |
rs144948056 | p.Trp314Arg | missense variant | - | NC_000013.11:g.94576356A>G | ESP,TOPMed,gnomAD |
rs144948056 | p.Trp314Arg | missense variant | - | NC_000013.11:g.94576356A>T | ESP,TOPMed,gnomAD |
rs779098313 | p.Arg315Ter | stop gained | - | NC_000013.11:g.94576353T>A | ExAC,TOPMed,gnomAD |
rs755393384 | p.Pro316Arg | missense variant | - | NC_000013.11:g.94576349G>C | ExAC,gnomAD |
rs755393384 | p.Pro316His | missense variant | - | NC_000013.11:g.94576349G>T | ExAC,gnomAD |
rs1284224643 | p.Lys317Asn | missense variant | - | NC_000013.11:g.94576345T>G | gnomAD |
rs1235127517 | p.Pro319Arg | missense variant | - | NC_000013.11:g.94576340G>C | TOPMed |
rs1374436495 | p.Lys321Glu | missense variant | - | NC_000013.11:g.94576335T>C | gnomAD |
rs1173723601 | p.Glu322Lys | missense variant | - | NC_000013.11:g.94576332C>T | gnomAD |
rs1435981482 | p.Gly323Glu | missense variant | - | NC_000013.11:g.94576328C>T | gnomAD |
rs1158497257 | p.Ile324Met | missense variant | - | NC_000013.11:g.94576324T>C | gnomAD |
rs1406502881 | p.Ile324Leu | missense variant | - | NC_000013.11:g.94576326T>G | gnomAD |
rs756608932 | p.Lys325Asn | missense variant | - | NC_000013.11:g.94576321C>A | ExAC,TOPMed,gnomAD |
rs752263870 | p.Trp330Ter | stop gained | - | NC_000013.11:g.94574845C>T | ExAC,gnomAD |
rs764804060 | p.His336Tyr | missense variant | - | NC_000013.11:g.94574829G>A | ExAC,gnomAD |
rs1359364582 | p.Asn337Ser | missense variant | - | NC_000013.11:g.94574825T>C | gnomAD |
rs1359364582 | p.Asn337Thr | missense variant | - | NC_000013.11:g.94574825T>G | gnomAD |
rs759286853 | p.Lys339Asn | missense variant | - | NC_000013.11:g.94574818C>G | ExAC,gnomAD |
rs1335818690 | p.Asn340Asp | missense variant | - | NC_000013.11:g.94574817T>C | TOPMed,gnomAD |
rs1430735190 | p.Glu342Gly | missense variant | - | NC_000013.11:g.94574810T>C | TOPMed,gnomAD |
rs753509890 | p.Lys343Ter | stop gained | - | NC_000013.11:g.94574808T>A | ExAC,gnomAD |
rs1442713093 | p.Lys343Asn | missense variant | - | NC_000013.11:g.94574806C>A | gnomAD |
rs1461310508 | p.Ala344Thr | missense variant | - | NC_000013.11:g.94574805C>T | TOPMed,gnomAD |
rs766124794 | p.Phe348Tyr | missense variant | - | NC_000013.11:g.94574792A>T | ExAC,gnomAD |
rs533417105 | p.Pro349Leu | missense variant | - | NC_000013.11:g.94574789G>A | 1000Genomes,ExAC,TOPMed,gnomAD |
rs772009375 | p.Val350Ile | missense variant | - | NC_000013.11:g.94574787C>T | ExAC,TOPMed,gnomAD |
rs772009375 | p.Val350Leu | missense variant | - | NC_000013.11:g.94574787C>A | ExAC,TOPMed,gnomAD |