| 5 | g.177992672G>A | CA3587472 | PROP1 | c.*37C>T (n.*37C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992672G= | CA1603813919 | PROP1 | c.*37C= (n.*37C=)
| |
| 5 | g.177992672G>T | CA2578500618 | PROP1 | c.*37C>A (n.*37C>A)
| gnomAD v4 |
| 5 | g.177992673C>A | CA2676774249 | PROP1 | c.*36G>T (n.*36G>T)
| gnomAD v4 |
| 5 | g.177992673C>T | CA2676774250 | PROP1 | c.*36G>A (n.*36G>A)
| gnomAD v4 |
| 5 | g.177992674A>G | CA2578500619 | PROP1 | c.*35T>C (n.*35T>C)
| gnomAD v4 |
| 5 | g.177992674A>T | CA2676774252 | PROP1 | c.*35T>A (n.*35T>A)
| gnomAD v4 |
| 5 | g.177992675G>C | CA2578500620 | PROP1 | c.*34C>G (n.*34C>G)
| |
| 5 | g.177992675G= | CA1603813920 | PROP1 | c.*34C= (n.*34C=)
| |
| 5 | g.177992675G>T | CA808117134 | PROP1 | c.*34C>A (n.*34C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992676G>A | CA2676774257 | PROP1 | c.*33C>T (n.*33C>T)
| gnomAD v4 |
| 5 | g.177992676G>T | CA2676774256 | PROP1 | c.*33C>A (n.*33C>A)
| gnomAD v4 |
| 5 | g.177992677C>A | CA2676774258 | PROP1 | c.*32G>T (n.*32G>T)
| gnomAD v4 |
| 5 | g.177992677C>T | CA2606592347 | PROP1 | c.*32G>A (n.*32G>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992678T>C | CA2578500621 | PROP1 | c.*31A>G (n.*31A>G)
| |
| 5 | g.177992678_177992679delinsTG | CA1603813921 | PROP1 | c.*30_*31delinsCA (n.*30_*31delinsCA)
| |
| 5 | g.177992679G>T | CA2676774260 | PROP1 | c.*30C>A (n.*30C>A)
| gnomAD v4 |
| 5 | g.177992682del | CA564901139 | PROP1 | c.*30del (n.*30del)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.177992680G>A | CA2676774263 | PROP1 | c.*29C>T (n.*29C>T)
| gnomAD v4 |
| 5 | g.177992680G>C | CA808117142 | PROP1 | c.*29C>G (n.*29C>G)
| dbSNP gnomAD v4 |
| 5 | g.177992680G= | CA1603813922 | PROP1 | c.*29C= (n.*29C=)
| |
| 5 | g.177992680G>T | CA3587473 | PROP1 | c.*29C>A (n.*29C>A)
| dbSNP ExAC gnomAD v4 |
| 5 | g.177992681G>A | CA132897009 | PROP1 | c.*28C>T (n.*28C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992681G= | CA1603813923 | PROP1 | c.*28C= (n.*28C=)
| |
| 5 | g.177992681G>T | CA1603813924 | PROP1 | c.*28C>A (n.*28C>A)
| dbSNP gnomAD v4 |
| 5 | g.177992682G>A | CA132897015 | PROP1 | c.*27C>T (n.*27C>T)
| dbSNP gnomAD v4 |
| 5 | g.177992682G= | CA1603813925 | PROP1 | c.*27C= (n.*27C=)
| |
| 5 | g.177992682G>T | CA1603813926 | PROP1 | c.*27C>A (n.*27C>A)
| dbSNP gnomAD v4 |
| 5 | g.177992683A>T | CA2676774264 | PROP1 | c.*26T>A (n.*26T>A)
| gnomAD v4 |
| 5 | g.177992684T>A | CA2676774266 | PROP1 | c.*25A>T (n.*25A>T)
| gnomAD v4 |
| 5 | g.177992685C>A | CA2676774268 | PROP1 | c.*24G>T (n.*24G>T)
| gnomAD v4 |
| 5 | g.177992685C= | CA1603813927 | PROP1 | c.*24G= (n.*24G=)
| |
| 5 | g.177992685C>G | CA564901140 | PROP1 | c.*24G>C (n.*24G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992685C>T | CA2676774269 | PROP1 | c.*24G>A (n.*24G>A)
| gnomAD v4 |
| 5 | g.177992686A>G | CA2676774271 | PROP1 | c.*23T>C (n.*23T>C)
| gnomAD v4 |
| 5 | g.177992686A>T | CA2676774272 | PROP1 | c.*23T>A (n.*23T>A)
| gnomAD v4 |
| 5 | g.177992687C>A | CA2676774277 | PROP1 | c.*22G>T (n.*22G>T)
| gnomAD v4 |
| 5 | g.177992687C>G | CA2676774276 | PROP1 | c.*22G>C (n.*22G>C)
| gnomAD v4 |
| 5 | g.177992687C>T | CA2676774275 | PROP1 | c.*22G>A (n.*22G>A)
| gnomAD v4 |
| 5 | g.177992688C>A | CA2676774278 | PROP1 | c.*21G>T (n.*21G>T)
| gnomAD v4 |
| 5 | g.177992688C= | CA1603813928 | PROP1 | c.*21G= (n.*21G=)
| |
| 5 | g.177992688C>G | CA1603813929 | PROP1 | c.*21G>C (n.*21G>C)
| dbSNP |
| 5 | g.177992688C>T | CA2676774279 | PROP1 | c.*21G>A (n.*21G>A)
| gnomAD v4 |
| 5 | g.177992689T>A | CA2676774280 | PROP1 | c.*20A>T (n.*20A>T)
| gnomAD v4 |
| 5 | g.177992689T>C | CA2676774281 | PROP1 | c.*20A>G (n.*20A>G)
| gnomAD v4 |
| 5 | g.177992689T>G | CA2676774282 | PROP1 | c.*20A>C (n.*20A>C)
| gnomAD v4 |
| 5 | g.177992690T>A | CA2769598504 | PROP1 | c.*19A>T (n.*19A>T)
| |
| 5 | g.177992690T>C | CA2676774283 | PROP1 | c.*19A>G (n.*19A>G)
| gnomAD v4 |
| 5 | g.177992691G>A | CA2676774284 | PROP1 | c.*18C>T (n.*18C>T)
| gnomAD v4 |
| 5 | g.177992691G>C | CA1603813931 | PROP1 | c.*18C>G (n.*18C>G)
| dbSNP gnomAD v4 |
| 5 | g.177992691G= | CA1603813930 | PROP1 | c.*18C= (n.*18C=)
| |
| 5 | g.177992691G>T | CA2676774285 | PROP1 | c.*18C>A (n.*18C>A)
| gnomAD v4 |
| 5 | g.177992692G>A | CA808117149 | PROP1 | c.*17C>T (n.*17C>T)
| dbSNP gnomAD v4 |
| 5 | g.177992692G= | CA1603813932 | PROP1 | c.*17C= (n.*17C=)
| |
| 5 | g.177992692G>T | CA2578500622 | PROP1 | c.*17C>A (n.*17C>A)
| gnomAD v4 |
| 5 | g.177992693T>C | CA2676774287 | PROP1 | c.*16A>G (n.*16A>G)
| gnomAD v4 |
| 5 | g.177992694G>A | CA2676774290 | PROP1 | c.*15C>T (n.*15C>T)
| gnomAD v4 |
| 5 | g.177992694G>T | CA2676774288 | PROP1 | c.*15C>A (n.*15C>A)
| gnomAD v4 |
| 5 | g.177992695del | CA2676774289 | PROP1 | c.*15del (n.*15del)
| gnomAD v4 |
| 5 | g.177992695G>A | CA2676774292 | PROP1 | c.*14C>T (n.*14C>T)
| gnomAD v4 |
| 5 | g.177992695G>T | CA2676774293 | PROP1 | c.*14C>A (n.*14C>A)
| gnomAD v4 |
| 5 | g.177992696T>C | CA564901141 | PROP1 | c.*13A>G (n.*13A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992696T= | CA1603813933 | PROP1 | c.*13A= (n.*13A=)
| |
| 5 | g.177992697A>G | CA2676774297 | PROP1 | c.*12T>C (n.*12T>C)
| gnomAD v4 |
| 5 | g.177992697A>T | CA2676774298 | PROP1 | c.*12T>A (n.*12T>A)
| gnomAD v4 |
| 5 | g.177992698C>A | CA2676774299 | PROP1 | c.*11G>T (n.*11G>T)
| gnomAD v4 |
| 5 | g.177992699T>A | CA1603813935 | PROP1 | c.*10A>T (n.*10A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992699T>C | CA2676774300 | PROP1 | c.*10A>G (n.*10A>G)
| gnomAD v4 |
| 5 | g.177992699T= | CA1603813934 | PROP1 | c.*10A= (n.*10A=)
| |
| 5 | g.177992700T>C | CA1603813937 | PROP1 | c.*9A>G (n.*9A>G)
| dbSNP gnomAD v4 |
| 5 | g.177992700T>G | CA2676774301 | PROP1 | c.*9A>C (n.*9A>C)
| gnomAD v4 |
| 5 | g.177992700T= | CA1603813936 | PROP1 | c.*9A= (n.*9A=)
| |
| 5 | g.177992701G>A | CA3587474 | PROP1 | c.*8C>T (n.*8C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992701G= | CA1603813938 | PROP1 | c.*8C= (n.*8C=)
| |
| 5 | g.177992701G>T | CA2676774302 | PROP1 | c.*8C>A (n.*8C>A)
| gnomAD v4 |
| 5 | g.177992703_177992710delinsTTGACCTC | CA1603813939 | PROP1 | c.680_*6delinsGAGGTCAA (n.[c.680_*6delinsGAGGTCAA;Ter227=])
| |
| 5 | g.177992704T>C | CA2578500623 | PROP1 | c.*5A>G (n.*5A>G)
| gnomAD v4 |
| 5 | g.177992704_177992710del | CA1603813940 | PROP1 | c.680_*5del (n.[c.680_*5del;Ter227=])
| dbSNP |
| 5 | g.177992705G>T | CA2541074874 | PROP1 | c.*4C>A (n.*4C>A)
| gnomAD v4 |
| 5 | g.177992706A>G | CA2676774304 | PROP1 | c.*3T>C (n.*3T>C)
| gnomAD v4 |
| 5 | g.177992707C>A | CA2676774306 | PROP1 | c.*2G>T (n.*2G>T)
| gnomAD v4 |
| 5 | g.177992708dup | CA2676774305 | PROP1 | c.*2dup (n.*2dup)
| gnomAD v4 |
| 5 | g.177992708C>A | CA3587475 | PROP1 | c.*1G>T (n.*1G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992708C= | CA1603813941 | PROP1 | c.*1G= (n.*1G=)
| |
| 5 | g.177992709T>A | CA362378215 | PROP1 | c.681A>T (p.Ter227Cys)
| gnomAD v4 |
| 5 | g.177992709T>C | CA362378216 | PROP1 | c.681A>G (p.Ter227Trp)
| gnomAD v4 |
| 5 | g.177992709T>G | CA362378214 | PROP1 | c.681A>C (p.Ter227Cys)
| |
| 5 | g.177992710C>A | CA362378217 | PROP1 | c.680G>T (p.Ter227Leu)
| gnomAD v4 |
| 5 | g.177992710C>G | CA362378218 | PROP1 | c.680G>C (p.Ter227Ser)
| |
| 5 | g.177992710C>T | CA448346424 | PROP1 | c.680G>A (p.Ter227=)
| gnomAD v4 |
| 5 | g.177992711A>C | CA362378219 | PROP1 | c.679T>G (p.Ter227Gly)
| |
| 5 | g.177992711A>G | CA362378220 | PROP1 | c.679T>C (p.Ter227Arg)
| |
| 5 | g.177992711A>T | CA362378221 | PROP1 | c.679T>A (p.Ter227Arg)
| |
| 5 | g.177992712G>A | CA448346425 | PROP1 | c.678C>T (p.Asn226=)
| gnomAD v4 |
| 5 | g.177992712G>C | CA362378223 | PROP1 | c.678C>G (p.Asn226Lys)
| gnomAD v4 |
| 5 | g.177992712G>T | CA362378222 | PROP1 | c.678C>A (p.Asn226Lys)
| gnomAD v4 |
| 5 | g.177992713T>A | CA362378224 | PROP1 | c.677A>T (p.Asn226Ile)
| |
| 5 | g.177992713T>C | CA362378225 | PROP1 | c.677A>G (p.Asn226Ser)
| |
| 5 | g.177992713T>G | CA362378226 | PROP1 | c.677A>C (p.Asn226Thr)
| |
| 5 | g.177992714T>A | CA362378227 | PROP1 | c.676A>T (p.Asn226Tyr)
| |
| 5 | g.177992714T>C | CA362378228 | PROP1 | c.676A>G (p.Asn226Asp)
| |
| 5 | g.177992714T>G | CA362378229 | PROP1 | c.676A>C (p.Asn226His)
| |
| 5 | g.177992715C>A | CA362378230 | PROP1 | c.675G>T (p.Trp225Cys)
| |
| 5 | g.177992715C>G | CA362378232 | PROP1 | c.675G>C (p.Trp225Cys)
| |
| 5 | g.177992715C>T | CA362378231 | PROP1 | c.675G>A (p.Trp225Ter)
| gnomAD v4 |
| 5 | g.177992716del | CA2676774307 | PROP1 | c.675del (p.Trp225Ter)
| gnomAD v4 |
| 5 | g.177992716C>A | CA362378233 | PROP1 | c.674G>T (p.Trp225Leu)
| |
| 5 | g.177992716C>G | CA362378234 | PROP1 | c.674G>C (p.Trp225Ser)
| |
| 5 | g.177992716C>T | CA362378235 | PROP1 | c.674G>A (p.Trp225Ter)
| gnomAD v4 |
| 5 | g.177992717A>C | CA362378236 | PROP1 | c.673T>G (p.Trp225Gly)
| |
| 5 | g.177992717A>G | CA362378237 | PROP1 | c.673T>C (p.Trp225Arg)
| gnomAD v4 |
| 5 | g.177992717A>T | CA362378238 | PROP1 | c.673T>A (p.Trp225Arg)
| |
| 5 | g.177992718G>A | CA448346427 | PROP1 | c.672C>T (p.Ser224=)
| |
| 5 | g.177992718G>C | CA448346428 | PROP1 | c.672C>G (p.Ser224=)
| |
| 5 | g.177992718G>T | CA448346426 | PROP1 | c.672C>A (p.Ser224=)
| |
| 5 | g.177992719G>A | CA362378239 | PROP1 | c.671C>T (p.Ser224Phe)
| |
| 5 | g.177992719G>C | CA3587476 | PROP1 | c.671C>G (p.Ser224Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992719G= | CA1603813942 | PROP1 | c.671C= (p.Ser224=)
| |
| 5 | g.177992719G>T | CA3587477 | PROP1 | c.671C>A (p.Ser224Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992720A>C | CA362378240 | PROP1 | c.670T>G (p.Ser224Ala)
| |
| 5 | g.177992720A>G | CA362378241 | PROP1 | c.670T>C (p.Ser224Pro)
| gnomAD v4 |
| 5 | g.177992720A>T | CA362378242 | PROP1 | c.670T>A (p.Ser224Thr)
| |
| 5 | g.177992721C>A | CA362378244 | PROP1 | c.669G>T (p.Lys223Asn)
| gnomAD v4 |
| 5 | g.177992721C>G | CA362378243 | PROP1 | c.669G>C (p.Lys223Asn)
| |
| 5 | g.177992721C>T | CA448346429 | PROP1 | c.669G>A (p.Lys223=)
| gnomAD v4 |
| 5 | g.177992722T>A | CA362378245 | PROP1 | c.668A>T (p.Lys223Met)
| |
| 5 | g.177992722T>C | CA362378247 | PROP1 | c.668A>G (p.Lys223Arg)
| |
| 5 | g.177992722T>G | CA362378246 | PROP1 | c.668A>C (p.Lys223Thr)
| |
| 5 | g.177992723T>A | CA362378248 | PROP1 | c.667A>T (p.Lys223Ter)
| |
| 5 | g.177992723T>C | CA362378249 | PROP1 | c.667A>G (p.Lys223Glu)
| |
| 5 | g.177992723T>G | CA362378250 | PROP1 | c.667A>C (p.Lys223Gln)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992724G>A | CA448346432 | PROP1 | c.666C>T (p.Ser222=)
| |
| 5 | g.177992724G>C | CA448346430 | PROP1 | c.666C>G (p.Ser222=)
| |
| 5 | g.177992724G>T | CA448346431 | PROP1 | c.666C>A (p.Ser222=)
| gnomAD v4 |
| 5 | g.177992725G>A | CA362378251 | PROP1 | c.665C>T (p.Ser222Phe)
| |
| 5 | g.177992725G>C | CA362378252 | PROP1 | c.665C>G (p.Ser222Cys)
| |
| 5 | g.177992725G>T | CA362378253 | PROP1 | c.665C>A (p.Ser222Tyr)
| gnomAD v4 |
| 5 | g.177992726A= | CA1603813943 | PROP1 | c.664T= (p.Ser222=)
| |
| 5 | g.177992726A>C | CA362378254 | PROP1 | c.664T>G (p.Ser222Ala)
| |
| 5 | g.177992726A>G | CA362378255 | PROP1 | c.664T>C (p.Ser222Pro)
| |
| 5 | g.177992726A>T | CA362378256 | PROP1 | c.664T>A (p.Ser222Thr)
| dbSNP gnomAD v4 |
| 5 | g.177992727T>A | CA448346434 | PROP1 | c.663A>T (p.Pro221=)
| |
| 5 | g.177992727T>C | CA448346435 | PROP1 | c.663A>G (p.Pro221=)
| |
| 5 | g.177992727T>G | CA448346436 | PROP1 | c.663A>C (p.Pro221=)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992728G>A | CA362378257 | PROP1 | c.662C>T (p.Pro221Leu)
| |
| 5 | g.177992728G>C | CA362378258 | PROP1 | c.662C>G (p.Pro221Arg)
| |
| 5 | g.177992728G>T | CA362378259 | PROP1 | c.662C>A (p.Pro221Gln)
| gnomAD v4 |
| 5 | g.177992729G>A | CA3587478 | PROP1 | c.661C>T (p.Pro221Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992729G>C | CA362378260 | PROP1 | c.661C>G (p.Pro221Ala)
| |
| 5 | g.177992729G= | CA1603813944 | PROP1 | c.661C= (p.Pro221=)
| |
| 5 | g.177992729G>T | CA362378261 | PROP1 | c.661C>A (p.Pro221Thr)
| gnomAD v4 |
| 5 | g.177992730C>A | CA362378262 | PROP1 | c.660G>T (p.Glu220Asp)
| gnomAD v4 |
| 5 | g.177992730C>G | CA362378263 | PROP1 | c.660G>C (p.Glu220Asp)
| |
| 5 | g.177992730C>T | CA448346437 | PROP1 | c.660G>A (p.Glu220=)
| gnomAD v4 |
| 5 | g.177992731T>A | CA362378264 | PROP1 | c.659A>T (p.Glu220Val)
| |
| 5 | g.177992731T>C | CA362378265 | PROP1 | c.659A>G (p.Glu220Gly)
| gnomAD v4 |
| 5 | g.177992731T>G | CA362378266 | PROP1 | c.659A>C (p.Glu220Ala)
| |
| 5 | g.177992732C>A | CA362378267 | PROP1 | c.658G>T (p.Glu220Ter)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992732C>G | CA362378268 | PROP1 | c.658G>C (p.Glu220Gln)
| |
| 5 | g.177992732C>T | CA362378269 | PROP1 | c.658G>A (p.Glu220Lys)
| gnomAD v4 |
| 5 | g.177992733A>C | CA448346438 | PROP1 | c.657T>G (p.Leu219=)
| |
| 5 | g.177992733A>G | CA448346439 | PROP1 | c.657T>C (p.Leu219=)
| gnomAD v4 |
| 5 | g.177992733A>T | CA448346440 | PROP1 | c.657T>A (p.Leu219=)
| |
| 5 | g.177992734del | CA2676774308 | PROP1 | c.657del (p.Glu220SerfsTer16)
| gnomAD v4 |
| 5 | g.177992734A= | CA1603813945 | PROP1 | c.656T= (p.Leu219=)
| |
| 5 | g.177992734A>C | CA362378270 | PROP1 | c.656T>G (p.Leu219Arg)
| |
| 5 | g.177992734A>G | CA362378271 | PROP1 | c.656T>C (p.Leu219Pro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992734A>T | CA362378272 | PROP1 | c.656T>A (p.Leu219His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992735G>A | CA3587479 | PROP1 | c.655C>T (p.Leu219Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992735G>C | CA362378274 | PROP1 | c.655C>G (p.Leu219Val)
| |
| 5 | g.177992735G= | CA1603813946 | PROP1 | c.655C= (p.Leu219=)
| |
| 5 | g.177992735G>T | CA362378273 | PROP1 | c.655C>A (p.Leu219Ile)
| gnomAD v4 |
| 5 | g.177992738_177992772del | CA2676774309 | PROP1 | c.621_655del (p.Cys208Ter)
| gnomAD v4 |
| 5 | g.177992736G>A | CA448346441 | PROP1 | c.654C>T (p.Ser218=)
| |
| 5 | g.177992736G>C | CA362378275 | PROP1 | c.654C>G (p.Ser218Arg)
| |
| 5 | g.177992736G>T | CA362378276 | PROP1 | c.654C>A (p.Ser218Arg)
| gnomAD v4 |
| 5 | g.177992737C>A | CA362378277 | PROP1 | c.653G>T (p.Ser218Ile)
| gnomAD v4 |
| 5 | g.177992737C= | CA1603813947 | PROP1 | c.653G= (p.Ser218=)
| |
| 5 | g.177992737C>G | CA362378278 | PROP1 | c.653G>C (p.Ser218Thr)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992737C>T | CA362378279 | PROP1 | c.653G>A (p.Ser218Asn)
| |
| 5 | g.177992737dup | CA913108651 | PROP1 | c.653dup (p.Ser218ArgfsTer3)
| |
| 5 | g.177992737_177992738del | CA2606592350 | PROP1 | c.652_653del (p.Ser218ProfsTer2)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992738T>A | CA362378282 | PROP1 | c.652A>T (p.Ser218Cys)
| gnomAD v4 |
| 5 | g.177992738T>C | CA362378281 | PROP1 | c.652A>G (p.Ser218Gly)
| gnomAD v4 |
| 5 | g.177992738T>G | CA362378280 | PROP1 | c.652A>C (p.Ser218Arg)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992738dup | CA658822668 | PROP1 | c.652dup (p.Ser218LysfsTer3)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.177992738_177992752delinsTGAGGGGGAGCATGG | CA1603813948 | PROP1 | c.638_652delinsCCATGCTCCCCCTCA (p.Pro213=)
| |
| 5 | g.177992739G>A | CA448346442 | PROP1 | c.651C>T (p.Leu217=)
| |
| 5 | g.177992739G>C | CA448346443 | PROP1 | c.651C>G (p.Leu217=)
| |
| 5 | g.177992739G>T | CA448346444 | PROP1 | c.651C>A (p.Leu217=)
| gnomAD v4 |
| 5 | g.177992746_177992759del | CA1603813949 | PROP1 | c.638_651del (p.Pro213GlnfsTer3)
| dbSNP |
| 5 | g.177992740_177992759del | CA2676774310 | PROP1 | c.632_651del (p.Pro211GlnfsTer3)
| gnomAD v4 |
| 5 | g.177992740del | CA1084892802 | PROP1 | c.650del (p.Leu217ProfsTer19)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992740A= | CA1603813950 | PROP1 | c.650T= (p.Leu217=)
| |
| 5 | g.177992740A>C | CA362378283 | PROP1 | c.650T>G (p.Leu217Arg)
| |
| 5 | g.177992740A>G | CA362378284 | PROP1 | c.650T>C (p.Leu217Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992740A>T | CA362378285 | PROP1 | c.650T>A (p.Leu217His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992741G>A | CA362378286 | PROP1 | c.649C>T (p.Leu217Phe)
| gnomAD v4 |
| 5 | g.177992741G>C | CA362378287 | PROP1 | c.649C>G (p.Leu217Val)
| |
| 5 | g.177992741G>T | CA362378288 | PROP1 | c.649C>A (p.Leu217Ile)
| gnomAD v4 |
| 5 | g.177992745_177992746insGGGGGGGGGG | CA1084892803 | PROP1 | c.649_650insCCCCCCCCCC (p.Leu217ProfsTer7)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992745del | CA2676774311 | PROP1 | c.649del (p.Leu217SerfsTer19)
| gnomAD v4 |
| 5 | g.177992746_177992765del | CA2676774312 | PROP1 | c.630_649del (p.Pro211GlnfsTer3)
| gnomAD v4 |
| 5 | g.177992742G>A | CA448346445 | PROP1 | c.648C>T (p.Pro216=)
| |
| 5 | g.177992742G>C | CA448346446 | PROP1 | c.648C>G (p.Pro216=)
| |
| 5 | g.177992742G= | CA1603813951 | PROP1 | c.648C= (p.Pro216=)
| |
| 5 | g.177992742G>T | CA448346447 | PROP1 | c.648C>A (p.Pro216=)
| dbSNP gnomAD v4 |
| 5 | g.177992743G>A | CA362378289 | PROP1 | c.647C>T (p.Pro216Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992743G>C | CA362378291 | PROP1 | c.647C>G (p.Pro216Arg)
| |
| 5 | g.177992743G= | CA1603813952 | PROP1 | c.647C= (p.Pro216=)
| |
| 5 | g.177992743G>T | CA362378290 | PROP1 | c.647C>A (p.Pro216His)
| gnomAD v4 |
| 5 | g.177992744G>A | CA132897069 | PROP1 | c.646C>T (p.Pro216Ser)
| dbSNP gnomAD v4 |
| 5 | g.177992744G>C | CA362378292 | PROP1 | c.646C>G (p.Pro216Ala)
| |
| 5 | g.177992744G= | CA1603813953 | PROP1 | c.646C= (p.Pro216=)
| |
| 5 | g.177992744G>T | CA362378293 | PROP1 | c.646C>A (p.Pro216Thr)
| gnomAD v4 |
| 5 | g.177992745G>A | CA448346448 | PROP1 | c.645C>T (p.Leu215=)
| gnomAD v4 |
| 5 | g.177992745G>C | CA448346449 | PROP1 | c.645C>G (p.Leu215=)
| |
| 5 | g.177992745G>T | CA448346450 | PROP1 | c.645C>A (p.Leu215=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.177992746A= | CA1603813954 | PROP1 | c.644T= (p.Leu215=)
| |
| 5 | g.177992746A>C | CA362378294 | PROP1 | c.644T>G (p.Leu215Arg)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992746A>G | CA132897074 | PROP1 | c.644T>C (p.Leu215Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992746A>T | CA362378295 | PROP1 | c.644T>A (p.Leu215His)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992746_177992754del | CA2676774313 | PROP1 | c.636_644del (p.Pro213_Leu215del)
| gnomAD v4 |
| 5 | g.177992747G>A | CA362378296 | PROP1 | c.643C>T (p.Leu215Phe)
| gnomAD v4 |
| 5 | g.177992747G>C | CA362378297 | PROP1 | c.643C>G (p.Leu215Val)
| |
| 5 | g.177992747G>T | CA362378298 | PROP1 | c.643C>A (p.Leu215Ile)
| gnomAD v4 |
| 5 | g.177992748C>A | CA362378299 | PROP1 | c.642G>T (p.Met214Ile)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992748C>G | CA362378300 | PROP1 | c.642G>C (p.Met214Ile)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992748C>T | CA362378301 | PROP1 | c.642G>A (p.Met214Ile)
| gnomAD v4 |
| 5 | g.177992748_177992749del | CA1084892805 | PROP1 | c.641_642del (p.Met214ThrfsTer6)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992748_177992750del | CA1084892804 | PROP1 | c.640_642del (p.Met214del)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992749A= | CA1603813955 | PROP1 | c.641T= (p.Met214=)
| |
| 5 | g.177992749A>C | CA362378303 | PROP1 | c.641T>G (p.Met214Arg)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992749A>G | CA3587480 | PROP1 | c.641T>C (p.Met214Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992749A>T | CA362378302 | PROP1 | c.641T>A (p.Met214Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992749_177992750insGGGGGGGGGGGGGGGG | CA564901142 | PROP1 | c.640_641insCCCCCCCCCCCCCCCC (p.Met214ThrfsTer12)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992750T>A | CA362378305 | PROP1 | c.640A>T (p.Met214Leu)
| |
| 5 | g.177992750T>C | CA362378304 | PROP1 | c.640A>G (p.Met214Val)
| |
| 5 | g.177992750T>G | CA362378306 | PROP1 | c.640A>C (p.Met214Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992750T= | CA1603813956 | PROP1 | c.640A= (p.Met214=)
| |
| 5 | g.177992751G>A | CA448346451 | PROP1 | c.639C>T (p.Pro213=)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992751G>C | CA448346452 | PROP1 | c.639C>G (p.Pro213=)
| |
| 5 | g.177992751G= | CA1603813957 | PROP1 | c.639C= (p.Pro213=)
| |
| 5 | g.177992751G>T | CA448346453 | PROP1 | c.639C>A (p.Pro213=)
| gnomAD v4 |
| 5 | g.177992752_177992753insCAGGGGGGGGGGGGGGGGGGG | CA564901143 | PROP1 | c.639_640insCCCCCCCCCCCCCCCCCTGCC (p.Pro213_Met214insProProProProProProAla)
| gnomAD v2 |
| 5 | g.177992753_177992754insGGGGGGG | CA1084892810 | PROP1 | c.639_640insCCCCCCC (p.Met214ProfsTer9)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992753_177992754insGGGGGGGGGGGGG | CA564901144 | PROP1 | c.639_640insCCCCCCCCCCCCC (p.Met214ProfsTer11)
| gnomAD v2 |
| 5 | g.177992753_177992754insGGGGGGGGGGGGGG | CA1084892808 | PROP1 | c.639_640insCCCCCCCCCCCCCC (p.Met214ProfsTer27)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992753_177992754insGGGGGGGGGGGGGGGGG | CA2769598519 | PROP1 | c.639_640insCCCCCCCCCCCCCCCCC (p.Met214ProfsTer28)
| |
| 5 | g.177992753dup | CA1084892806 | PROP1 | c.639dup (p.Met214HisfsTer7)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992753del | CA2769598520 | PROP1 | c.639del (p.Met214CysfsTer22)
| |
| 5 | g.177992759_177992760insGGGGGGGCAGGGGAGGGGG | CA1084892809 | PROP1 | c.639_640insCTGCCCCCCCCCCCCTCCC (p.Met214LeufsTer13)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992754_177992759dup | CA1084892811 | PROP1 | c.634_639dup (p.Pro213_Met214insProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992754_177992759del | CA2676774315 | PROP1 | c.634_639del (p.Pro212_Pro213del)
| gnomAD v4 |
| 5 | g.177992753_177992782del | CA1084892807 | PROP1 | c.610_639del (p.Gly204_Pro213del)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992752G>A | CA362378307 | PROP1 | c.638C>T (p.Pro213Leu)
| |
| 5 | g.177992752G>C | CA362378309 | PROP1 | c.638C>G (p.Pro213Arg)
| |
| 5 | g.177992752G= | CA1603813958 | PROP1 | c.638C= (p.Pro213=)
| |
| 5 | g.177992752G>T | CA362378308 | PROP1 | c.638C>A (p.Pro213His)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992752_177992753insCT | CA362378310 | PROP1 | c.637_638insAG (p.Pro213GlnfsTer24)
| dbSNP |
| 5 | g.177992753G>A | CA362378311 | PROP1 | c.637C>T (p.Pro213Ser)
| gnomAD v4 |
| 5 | g.177992753G>C | CA362378312 | PROP1 | c.637C>G (p.Pro213Ala)
| |
| 5 | g.177992753G>T | CA362378313 | PROP1 | c.637C>A (p.Pro213Thr)
| gnomAD v4 |
| 5 | g.177992753_177992754insGGGGGGGC | CA1084892813 | PROP1 | c.636_637insGCCCCCCC (p.Pro213AlafsTer26)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992754del | CA1084892812 | PROP1 | c.636del (p.Met214CysfsTer22)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992754A= | CA1603813959 | PROP1 | c.636T= (p.Pro212=)
| |
| 5 | g.177992754A>C | CA448346455 | PROP1 | c.636T>G (p.Pro212=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992754A>G | CA3587481 | PROP1 | c.636T>C (p.Pro212=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992754A>T | CA448346456 | PROP1 | c.636T>A (p.Pro212=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992758_177992771del | CA2676774316 | PROP1 | c.623_636del (p.Cys208SerfsTer8)
| gnomAD v4 |
| 5 | g.177992755G>A | CA362378314 | PROP1 | c.635C>T (p.Pro212Leu)
| dbSNP gnomAD v4 |
| 5 | g.177992755G>C | CA362378315 | PROP1 | c.635C>G (p.Pro212Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992755G= | CA1603813960 | PROP1 | c.635C= (p.Pro212=)
| |
| 5 | g.177992755G>T | CA362378316 | PROP1 | c.635C>A (p.Pro212His)
| gnomAD v4 |
| 5 | g.177992755_177992756insTGGGGGGGGGGGGGGGGGAGGGGGGG | CA2676774317 | PROP1 | c.635_636insCCCCCCTCCCCCCCCCCCCCCCCCAC (p.Met214ProfsTer31)
| gnomAD v4 |
| 5 | g.177992756_177992757insAGGGGGGGG | CA2676774323 | PROP1 | c.635_636insCCCCCCTCC (p.Pro212_Pro213insProProPro)
| gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGG | CA564901147 | PROP1 | c.635_636insCCCCCC (p.Pro212_Pro213insProPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGG | CA1084892825 | PROP1 | c.635_636insCCCCCCC (p.Met214ProfsTer9)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGG | CA1084892823 | PROP1 | c.635_636insCCCCCCCC (p.Met214ProfsTer25)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGG | CA2528255305 | PROP1 | c.635_636insCCCCCCCCCC (p.Met214ProfsTer10)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insAGGGGGGGGGG | CA1084892817 | PROP1 | c.635_636insCCCCCTCCCCC (p.Met214LeufsTer26)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insAGGGGGGGGGGG | CA1084892815 | PROP1 | c.635_636insCCCCCCTCCCCC (p.Pro212_Pro213insProProProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insCGGGGGGGGGGG | CA1084892827 | PROP1 | c.635_636insCCCCCCGCCCCC (p.Pro212_Pro213insProProProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGGGGG | CA1084892814 | PROP1 | c.635_636insCCCCCCCCCCCCC (p.Met214ProfsTer11)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insAGGGGGGGGGGGGG | CA564901146 | PROP1 | c.635_636insCCCCCCCCTCCCCC (p.Met214ProfsTer27)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGCGGGGGGGGGGG | CA1084892824 | PROP1 | c.635_636insCCCCCCGCCCCCCC (p.Met214ProfsTer27)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGGGGGG | CA1084892820 | PROP1 | c.635_636insCCCCCCCCCCCCCC (p.Met214ProfsTer27)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGCAGGGGGGGGGG | CA1084892822 | PROP1 | c.635_636insCCCCCTGCCCCCCCCCCCC (p.Met214LeufsTer13)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGCGGGGGGGGGGG | CA1084892821 | PROP1 | c.635_636insCCCCCCGCCCCCCCCCCCC (p.Met214ProfsTer13)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGGGGGGGGGGGG | CA1084892819 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer29)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGCGGGGGGGGGGG | CA2676774321 | PROP1 | c.635_636insCCCCCCGCCCCCCCCCCCCCC (p.Pro212_Pro213insProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGGGGGGGGGGGGG | CA564901148 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCCCCC (p.Pro212_Pro213insProProProProProProPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insGGGGGGGGGGGGGGGGGGGGGG | CA1084892818 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992759_177992760insCGGGGGGGGGGGGGGGGGGGGGG | CA2769598524 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCGCCCCC (p.Met214ProfsTer30)
| |
| 5 | g.177992759_177992760insAGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2676774322 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCCCCCTCCCCC (p.Pro212_Pro213insProProProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992759_177992760insCGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1084892826 | PROP1 | c.635_636insCCCCCCCCCCCCCCCCCCCCCCCCGCCCCC (p.Pro212_Pro213insProProProProProProProProProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992756_177992759dup | CA1084892816 | PROP1 | c.632_635dup (p.Met214SerfsTer8)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992755_177992759dup | CA564901145 | PROP1 | c.631_635dup (p.Met214LeufsTer24)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992759del | CA2676774320 | PROP1 | c.635del (p.Pro212LeufsTer24)
| gnomAD v4 |
| 5 | g.177992760_177992765del | CA2676774319 | PROP1 | c.630_635del (p.Pro211_Pro212del)
| gnomAD v4 |
| 5 | g.177992760_177992766del | CA2676774318 | PROP1 | c.629_635del (p.Pro210LeufsTer24)
| gnomAD v4 |
| 5 | g.177992756G>A | CA3587482 | PROP1 | c.634C>T (p.Pro212Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992756G>C | CA362378317 | PROP1 | c.634C>G (p.Pro212Ala)
| |
| 5 | g.177992756G= | CA1603813961 | PROP1 | c.634C= (p.Pro212=)
| |
| 5 | g.177992756G>T | CA362378318 | PROP1 | c.634C>A (p.Pro212Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992757G>A | CA448346459 | PROP1 | c.633C>T (p.Pro211=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.177992757G>C | CA448346460 | PROP1 | c.633C>G (p.Pro211=)
| |
| 5 | g.177992757G>T | CA448346461 | PROP1 | c.633C>A (p.Pro211=)
| gnomAD v4 |
| 5 | g.177992758G>A | CA362378319 | PROP1 | c.632C>T (p.Pro211Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992758G>C | CA3587484 | PROP1 | c.632C>G (p.Pro211Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992758G= | CA1603813962 | PROP1 | c.632C= (p.Pro211=)
| |
| 5 | g.177992758G>T | CA3587483 | PROP1 | c.632C>A (p.Pro211His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992759G>A | CA362378320 | PROP1 | c.631C>T (p.Pro211Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992759G>C | CA362378321 | PROP1 | c.631C>G (p.Pro211Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992759G= | CA1603813963 | PROP1 | c.631C= (p.Pro211=)
| |
| 5 | g.177992759G>T | CA362378322 | PROP1 | c.631C>A (p.Pro211Thr)
| gnomAD v4 |
| 5 | g.177992760_177992761del | CA2769598530 | PROP1 | c.630_631del (p.Pro212SerfsTer8)
| |
| 5 | g.177992760del | CA1084892828 | PROP1 | c.630del (p.Pro212LeufsTer24)
| gnomAD v4 |
| 5 | g.177992760T>A | CA448346463 | PROP1 | c.630A>T (p.Pro210=)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992760T>C | CA448346462 | PROP1 | c.630A>G (p.Pro210=)
| ClinVar gnomAD v3 gnomAD v4 |
| 5 | g.177992760T>G | CA3587485 | PROP1 | c.630A>C (p.Pro210=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992760T= | CA1603813964 | PROP1 | c.630A= (p.Pro210=)
| |
| 5 | g.177992760dup | CA913108652 | PROP1 | c.630dup (p.Pro211ThrfsTer10)
| |
| 5 | g.177992760_177992761delinsTG | CA1603813965 | PROP1 | c.629_630delinsCA (p.Pro210=)
| |
| 5 | g.177992764_177992793del | CA2676774334 | PROP1 | c.601_630del (p.Ala201_Pro210del)
| gnomAD v4 |
| 5 | g.177992761G>A | CA362378323 | PROP1 | c.629C>T (p.Pro210Leu)
| dbSNP gnomAD v4 |
| 5 | g.177992761G>C | CA362378324 | PROP1 | c.629C>G (p.Pro210Arg)
| gnomAD v4 |
| 5 | g.177992761G= | CA1603813966 | PROP1 | c.629C= (p.Pro210=)
| |
| 5 | g.177992761G>T | CA3587488 | PROP1 | c.629C>A (p.Pro210Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992761_177992762insTGGGGGTGCTGGGGGGGGGGGG | CA2676774513 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCCAC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992764_177992765insAGGGGGGGGGGGGGGGG | CA2676774635 | PROP1 | c.629_630insCCCCCCCCCCCCTCCCC (p.Met214ProfsTer28)
| gnomAD v4 |
| 5 | g.177992764_177992765insCTGCTGGGGGGGGGGGGGGG | CA2769598572 | PROP1 | c.629_630insCCCCCCCCCCCAGCAGCCCC (p.Met214GlnfsTer29)
| |
| 5 | g.177992764_177992765insTCGCTGGGGGGGGGGGGGGG | CA2676774518 | PROP1 | c.629_630insCCCCCCCCCCCAGCGACCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992764_177992765insTTGCTGGGGGGGGGGGGGGG | CA2676774516 | PROP1 | c.629_630insCCCCCCCCCCCAGCAACCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insCTGGGGGGGGGGGGGGG | CA2676774617 | PROP1 | c.629_630insCCCCCCCCCCAGCCCCC (p.Met214SerfsTer28)
| gnomAD v4 |
| 5 | g.177992765_177992766insAGCTGGGGGGGGGGGGGGGG | CA2769598568 | PROP1 | c.629_630insCCCCCCCCCCCAGCTCCCCC (p.Met214GlnfsTer29)
| |
| 5 | g.177992765_177992766insAGCTGGGGTGGGGGGGGGGG | CA2769598550 | PROP1 | c.629_630insCCCCCCACCCCAGCTCCCCC (p.Met214GlnfsTer29)
| |
| 5 | g.177992765_177992766insCGCGGGGGGGGGGGGGGGGG | CA2676774630 | PROP1 | c.629_630insCCCCCCCCCCCCGCGCCCCC (p.Met214ProfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insCGCTGGGGGGGGGGGGGGGG | CA2676774622 | PROP1 | c.629_630insCCCCCCCCCCCAGCGCCCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insCGTTGGGGGGGGGGGGGGGG | CA2676774618 | PROP1 | c.629_630insCCCCCCCCCCCAACGCCCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insTGCTGGGGGGGGGGGGGGGG | CA2676774499 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insTGCTGGGGTGGGGGGGGGGG | CA2676774521 | PROP1 | c.629_630insCCCCCCACCCCAGCACCCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insTGCTTGGGGGGGGGGGGGGG | CA2676774519 | PROP1 | c.629_630insCCCCCCCCCCAAGCACCCCC (p.Met214LysfsTer29)
| gnomAD v4 |
| 5 | g.177992765_177992766insTCCCCTTTGGTGTTTTTTGTTTCACCTCATTTCCAGGTTTTGGATGCCTAAAGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGG | CA1084892836 | PROP1 | c.629_630insCCCCCCCCCCCTCCCCCCCCCCCCCCTTTAGGCATCCAAAACCTGGAAATGAGGTGAAACAAAAAACACCAAAGGGGACCCCC (p.Met214LeufsTer7)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGG | CA1084892842 | PROP1 | c.629_630insCCCCCCC (p.Pro213ThrfsTer10)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGG | CA2676774680 | PROP1 | c.629_630insCCCCCCCCC (p.Pro210_Pro211insProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGG | CA1084892847 | PROP1 | c.629_630insCCCCCCCCCC (p.Met214ThrfsTer10)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGG | CA564901149 | PROP1 | c.629_630insCCCCCCCCCCC (p.Met214HisfsTer26)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGG | CA3587487 | PROP1 | c.629_630insCCCCCCCCCCCC (p.Pro210_Pro211insProProProPro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGG | CA2676774487 | PROP1 | c.629_630insCCCCCCCCCCCCC (p.Met214ProfsTer11)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGG | CA1084892831 | PROP1 | c.629_630insCCCCCCCCCCCCCC (p.Met214ProfsTer27)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGG | CA2676774480 | PROP1 | c.629_630insCCCCCCCCCCCCCCCC (p.Met214ProfsTer12)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGG | CA1084892832 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCC (p.Met214ProfsTer28)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insAGGGGGGGGGGGGGGGGG | CA1084892840 | PROP1 | c.629_630insCCCCCCCCCCCTCCCCCC (p.Pro210_Pro211insProProProLeuProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insAAGGGGGGGGGGGGGGGGG | CA2676774608 | PROP1 | c.629_630insCCCCCCCCCCCTTCCCCCC (p.Met214LeufsTer13)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGG | CA2676774471 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer13)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCTGGGGGGGGGGGGGGGGG | CA2676774694 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCCC (p.Met214GlnfsTer29)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGAGGGGGGGGGGGGGGGGG | CA2676774687 | PROP1 | c.629_630insCCCCCCCCCCCTCCCCCCCC (p.Met214LeufsTer29)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGGG | CA2676774469 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer29)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGCTGGGGGGGGGGGGGGGG | CA2769598564 | PROP1 | c.629_630insCCCCCCCCCCAGCGCCCCCCC (p.Pro210_Pro211insProProProSerAlaProPro)
| |
| 5 | g.177992766_177992767insGCGTTGGGGGGGGGGGGGGGG | CA2676774698 | PROP1 | c.629_630insCCCCCCCCCCAACGCCCCCCC (p.Pro210_Pro211insProProProAsnAlaProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGAGGGGGGGGGGGGGGGGG | CA2676774716 | PROP1 | c.629_630insCCCCCCCCCCCTCCCCCCCCC (p.Pro210_Pro211insProProProLeuProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGGGG | CA2676774468 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCCCC (p.Pro210_Pro211insProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGCTGGGGGGGGGGGGGGGG | CA2676774570 | PROP1 | c.629_630insCCCCCCCCCCAGCACCCCCCC (p.Pro210_Pro211insProProProSerThrProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insTGCTGGGGGGGGGGGGGGGGG | CA2676774555 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCCC (p.Pro210_Pro211insProProProGlnHisProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insTTGTGGGGGGGGGGGGGGGGG | CA2676774530 | PROP1 | c.629_630insCCCCCCCCCCCACAACCCCCC (p.Pro210_Pro211insProProProHisAsnProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGAGCAGGGGGGGGGGGGGGGGG | CA1084892848 | PROP1 | c.629_630insCCCCCCCCCCCTGCTCCCCCCC (p.Met214LeufsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGAGCTGGGGGGGGGGGGGGGGG | CA2606592360 | PROP1 | c.629_630insCCCCCCCCCCCAGCTCCCCCCC (p.Met214GlnfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGAGGAGGGGGGGGGGGGGGGGG | CA2501778983 | PROP1 | c.629_630insCCCCCCCCCCCTCCTCCCCCCC (p.Met214LeufsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGAGGGGGGGGGGGGGGGGGGGG | CA2606592359 | PROP1 | c.629_630insCCCCCCCCCCCCCCTCCCCCCC (p.Met214ProfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGCCCTGGGGGGGGGGGGGGGGG | CA2676774577 | PROP1 | c.629_630insCCCCCCCCCCCAGGGCCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGCGGGGGGGGGGGGGGGGGG | CA2676774715 | PROP1 | c.629_630insCCCCCCCCCCCCGCGCCCCCCC (p.Met214ProfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGCTGGGGCGGGGGGGGGGGG | CA2676774647 | PROP1 | c.629_630insCCCCCCGCCCCAGCGCCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGCTGGGGGGGGGGGGGGGGG | CA2676774707 | PROP1 | c.629_630insCCCCCCCCCCCAGCGCCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGGTGGGGGGGGGGGGGGGGG | CA2769598560 | PROP1 | c.629_630insCCCCCCCCCCCACCGCCCCCCC (p.Met214HisfsTer14)
| |
| 5 | g.177992766_177992767insGGCGGTGGGGGGGGGGGGGGGG | CA2676774684 | PROP1 | c.629_630insCCCCCCCCCCACCGCCCCCCCC (p.Met214ThrfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGAAGGGGGGGGGGGGGGGGG | CA1084892843 | PROP1 | c.629_630insCCCCCCCCCCCTTCCCCCCCCC (p.Met214LeufsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGAGGGGGGGGGGGGGGGGGG | CA1084892844 | PROP1 | c.629_630insCCCCCCCCCCCCTCCCCCCCCC (p.Met214ProfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGCAGGGGGGGGGGGGGGGGG | CA1084892845 | PROP1 | c.629_630insCCCCCCCCCCCTGCCCCCCCCC (p.Met214LeufsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGCTGGGGGGGGGGGGGGGGG | CA2676774678 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAGGGGGGGGGGGGGGGGG | CA1084892838 | PROP1 | c.629_630insCCCCCCCCCCCTCCCCCCCCCC (p.Met214LeufsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGGGGG | CA1084892834 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGTCCTGGGGGGGGGGGGGGGGG | CA2676774574 | PROP1 | c.629_630insCCCCCCCCCCCAGGACCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGCTGGGGGGGGGGGGGGGGG | CA2606592357 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCCCC (p.Met214GlnfsTer14)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGTGTTGGGGGGGGGGGGGGGGG | CA2676774558 | PROP1 | c.629_630insCCCCCCCCCCCAACACCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insTCGCTGGGGGGGGGGGGGGGGG | CA2676774556 | PROP1 | c.629_630insCCCCCCCCCCCAGCGACCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insTTGCTGGGGGGGGGGGGGGGGG | CA2676774537 | PROP1 | c.629_630insCCCCCCCCCCCAGCAACCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992766_177992767insTTGTTGGGGGGGGGGGGGGGGG | CA2769598553 | PROP1 | c.629_630insCCCCCCCCCCCAACAACCCCCC (p.Met214GlnfsTer14)
| |
| 5 | g.177992766_177992767insGGGGATGGGGGGGGGGGGGGGGG | CA2676774653 | PROP1 | c.629_630insCCCCCCCCCCCATCCCCCCCCCC (p.Met214HisfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGAGGAGGGGGGGGGGGGGGGGGG | CA2676774583 | PROP1 | c.629_630insCCCCCCCCCCCCTCCTCCCCCCC (p.Met214ProfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGTGCTGGGGGGGGGGGGGGGGG | CA2676774464 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCCCCC (p.Met214GlnfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGCTGGGGGGGGGGGGGGGGG | CA2676774610 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCCCCCC (p.Met214GlnfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAGGGGGGGGGGGGGGGGGG | CA2676774656 | PROP1 | c.629_630insCCCCCCCCCCCCTCCCCCCCCCC (p.Met214ProfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGCTTGGGGGGGGGGGGGGGGG | CA2676774561 | PROP1 | c.629_630insCCCCCCCCCCCAAGCACCCCCCC (p.Met214GlnfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAAGGGGGGGGGGGGGGGGG | CA2676774666 | PROP1 | c.629_630insCCCCCCCCCCCTTCCCCCCCCCC (p.Met214LeufsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAATGGGGGGGGGGGGGGGG | CA2515981285 | PROP1 | c.629_630insCCCCCCCCCCATTCCCCCCCCCC (p.Met214IlefsTer30)
| |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGGGGGG | CA564901150 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer30)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGCGCTGGGGGGGGGGGGGGGGG | CA2676774494 | PROP1 | c.629_630insCCCCCCCCCCCAGCGCCCCCCCC (p.Met214GlnfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGTGTTGGGGGGGGGGGGGGGGG | CA1084892835 | PROP1 | c.629_630insCCCCCCCCCCCAACACCCCCCCC (p.Met214GlnfsTer30)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGCAGGGGGGGGGGGGGGGGG | CA1084892829 | PROP1 | c.629_630insCCCCCCCCCCCTGCCCCCCCCCC (p.Met214LeufsTer30)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGTGGTGGGGGGGGGGGGGGGGG | CA2676774458 | PROP1 | c.629_630insCCCCCCCCCCCACCACCCCCCCC (p.Met214HisfsTer30)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGTTGCTGGGGGGGGGGGGGGGGG | CA2676774526 | PROP1 | c.629_630insCCCCCCCCCCCAGCAACCCCCCCC (p.Pro210_Pro211insProProProGlnGlnProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGAGGTGGGGGGGGGGGGGGGGGG | CA2740711162 | PROP1 | c.629_630insCCCCCCCCCCCCACCTCCCCCCCC (p.Pro210_Pro211insProProProProProProProPro)
| |
| 5 | g.177992766_177992767insGGGGGAGGGGGGGGGGGGGGGGGG | CA1084892830 | PROP1 | c.629_630insCCCCCCCCCCCCTCCCCCCCCCCC (p.Pro210_Pro211insProProProProProProProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGCTGGGGGGGGGGGGGGGGG | CA2676774490 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCCCCCCCC (p.Met214GlnfsTer15)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAGGGGGGGGGGGGGGGGGGGG | CA1084892846 | PROP1 | c.629_630insCCCCCCCCCCCCCCTCCCCCCCCCC (p.Met214ProfsTer15)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGAGAAGGGGGGGGGGGGGGGGG | CA2676774662 | PROP1 | c.629_630insCCCCCCCCCCCTTCTCCCCCCCCCC (p.Met214LeufsTer15)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGCTGGGGGGGGGGGGGGGGG | CA2676774485 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCCCCCCCCC (p.Met214GlnfsTer31)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGTGCTGGGGGGGGGGGGGGGGG | CA2676774467 | PROP1 | c.629_630insCCCCCCCCCCCAGCACCCCCCCCCCC (p.Met214GlnfsTer31)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGCGGGGGGGGGGGGGGGGGG | CA2676774477 | PROP1 | c.629_630insCCCCCCCCCCCCGCCCCCCCCCCCCCCCCC (p.Pro210_Pro211insProProProProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGG | CA2676774473 | PROP1 | c.629_630insCCCCCCCCCCCCGCCCCCCCCCCCCCCCCCC (p.Met214ProfsTer17)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGAGCAGGGGGGGGGGGGGGGGG | CA1084892833 | PROP1 | c.629_630insCCCCCCCCCCCTGCTCCCCCCCCCCCCCCCCC (p.Met214LeufsTer33)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGAGGAGGGGGGGGGGGGGGGGG | CA2676774475 | PROP1 | c.629_630insCCCCCCCCCCCTCCTCCCCCCCCCCCCCCCCCC (p.Pro210_Pro211insProProProLeuLeuProProProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2676774701 | PROP1 | c.629_630insCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCGCCCCCCC (p.Met214ProfsTer35)
| gnomAD v4 |
| 5 | g.177992766dup | CA658822669 | PROP1 | c.629dup (p.Pro211ThrfsTer10)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992764_177992766dup | CA1084892839 | PROP1 | c.627_629dup (p.Pro210_Pro211insPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992763_177992766dup | CA2676774640 | PROP1 | c.626_629dup (p.Pro212ThrfsTer10)
| gnomAD v4 |
| 5 | g.177992762_177992766dup | CA2769598571 | PROP1 | c.625_629dup (p.Pro212HisfsTer26)
| |
| 5 | g.177992761_177992766dup | CA1084892837 | PROP1 | c.624_629dup (p.Pro210_Pro211insProPro)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992766del | CA3587486 | PROP1 | c.629del (p.Pro210HisfsTer26)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992767_177992768insTGGGGGGGGGGGGGGGGGC | CA2676774603 | PROP1 | c.629_630insCCCCCCCCCCCAGCCCCCC (p.Met214GlnfsTer13)
| gnomAD v4 |
| 5 | g.177992767_177992768insTGCTGGGGGGGGGGGGGGGGGC | CA2676774605 | PROP1 | c.629_630insCCCCCCCCCCCAGCAGCCCCCC (p.Met214GlnfsTer14)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCAGGG | CA1084892841 | PROP1 | c.629_630insCCCCCCCCCCCTGCCCCCC (p.Met214LeufsTer13)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992762G>A | CA362378326 | PROP1 | c.628C>T (p.Pro210Ser)
| gnomAD v4 |
| 5 | g.177992762G>C | CA362378327 | PROP1 | c.628C>G (p.Pro210Ala)
| |
| 5 | g.177992762G>T | CA362378325 | PROP1 | c.628C>A (p.Pro210Thr)
| gnomAD v4 COSMIC |
| 5 | g.177992765_177992771del | CA2676774737 | PROP1 | c.622_628del (p.Cys208HisfsTer26)
| gnomAD v4 |
| 5 | g.177992763G>A | CA448346465 | PROP1 | c.627C>T (p.Pro209=)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.177992763G>C | CA448346466 | PROP1 | c.627C>G (p.Pro209=)
| gnomAD v4 |
| 5 | g.177992763G>T | CA448346467 | PROP1 | c.627C>A (p.Pro209=)
| gnomAD v4 |
| 5 | g.177992764G>A | CA362378328 | PROP1 | c.626C>T (p.Pro209Leu)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992764G>C | CA362378329 | PROP1 | c.626C>G (p.Pro209Arg)
| |
| 5 | g.177992764G= | CA1603813967 | PROP1 | c.626C= (p.Pro209=)
| |
| 5 | g.177992764G>T | CA3587489 | PROP1 | c.626C>A (p.Pro209His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992764_177992765insAA | CA132897092 | PROP1 | c.625_626insTT (p.Pro209LeufsTer28)
| |
| 5 | g.177992765G>A | CA362378330 | PROP1 | c.625C>T (p.Pro209Ser)
| |
| 5 | g.177992765G>C | CA362378331 | PROP1 | c.625C>G (p.Pro209Ala)
| |
| 5 | g.177992765G= | CA1603813968 | PROP1 | c.625C= (p.Pro209=)
| |
| 5 | g.177992765G>T | CA362378332 | PROP1 | c.625C>A (p.Pro209Thr)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992765_177992766insC | CA2676774767 | PROP1 | c.624_625insG (p.Pro209AlafsTer12)
| gnomAD v4 |
| 5 | g.177992765_177992766insAA | CA362378333 | PROP1 | c.624_625insTT (p.Pro209PhefsTer28)
| dbSNP |
| 5 | g.177992765_177992766insCT | CA2676774763 | PROP1 | c.624_625insAG (p.Pro209SerfsTer28)
| gnomAD v4 |
| 5 | g.177992766G>A | CA3587490 | PROP1 | c.624C>T (p.Cys208=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.177992766G>C | CA362378334 | PROP1 | c.624C>G (p.Cys208Trp)
| gnomAD v4 |
| 5 | g.177992766G= | CA1603813969 | PROP1 | c.624C= (p.Cys208=)
| |
| 5 | g.177992766G>T | CA362378335 | PROP1 | c.624C>A (p.Cys208Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992766_177992767insGCG | CA2676774764 | PROP1 | c.624_625insGCC (p.Cys208_Pro209insAla)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGAG | CA1084892849 | PROP1 | c.624_625insTCCC (p.Pro209SerfsTer13)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992767_177992769del | CA2578500624 | PROP1 | c.622_624del (p.Cys208del)
| |
| 5 | g.177992766_177992767insGGGGGC | CA2676774819 | PROP1 | c.623_624insGCCCCC (p.Cys208delinsTrpProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGC | CA2676774822 | PROP1 | c.623_624insGCCCCCC (p.Cys208TrpfsTer15)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGC | CA2676774827 | PROP1 | c.623_624insGCCCCCCCCC (p.Cys208TrpfsTer16)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGC | CA2676774830 | PROP1 | c.623_624insGCCCCCCCCCC (p.Cys208TrpfsTer32)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGC | CA2676774832 | PROP1 | c.623_624insGCCCCCCCCCCC (p.Cys208delinsTrpProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCTGGGGGGGGGGGGGGGGC | CA2676774817 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAGC (p.Cys208TrpfsTer35)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGCTGGGGGGGGGGGGGGGGC | CA2676774801 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAGCAC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGCTGGGGGGGGGGGGGGGGC | CA2676774810 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAGCGC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGTTGGGGGGGGGGGGGGGGC | CA2676774795 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAACAC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGCTTGGGGGGGGGGGGGGGC | CA2676774800 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCAAGCAC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGTTGGGGGGGGGGGGGGGGC | CA2676774815 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAACGC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGTTGGGGGGGGGGGGGGGGC | CA2676774808 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAACCC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGTGGGGGGGGGGGGGGGGGC | CA2676774814 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCCACGC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGCGGTGGGGGGGGGGGGGGGGC | CA2676774811 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCACCGC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGTTGGGGGGGGGGGGGGGGGC | CA2676774802 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCCAACC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGGTGGGGGGGGGGGGGGGGC | CA2676774799 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCACCAC (p.Cys208TrpfsTer20)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGGTTGGGGGGGGGGGGGGGGC | CA2676774797 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAACCAC (p.Cys208TrpfsTer36)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGTGGTGGGGGGGGGGGGGGGGGC | CA2676774804 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCCACCACC (p.Cys208delinsTrpProProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGTGGTTGGGGGGGGGGGGGGGGGC | CA2676774796 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCCAACCAC (p.Cys208delinsTrpProProProProProProThrThr)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2676774807 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208delinsTrpProProProProProProProProPro)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGCGCTGGGGGGGGGGGGGGGGC | CA2676774825 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAGCGCCCCCCCC (p.Cys208TrpfsTer38)
| gnomAD v4 |
| 5 | g.177992766_177992767insGGGGGGGGGGGGCTGCTGGGGGGGGGGGGGGGGC | CA2676774834 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAGCAGCCCCCCCCCCCC (p.Cys208TrpfsTer24)
| gnomAD v4 |
| 5 | g.177992767C>A | CA362378337 | PROP1 | c.623G>T (p.Cys208Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992767C= | CA1603813970 | PROP1 | c.623G= (p.Cys208=)
| |
| 5 | g.177992767C>G | CA362378338 | PROP1 | c.623G>C (p.Cys208Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992767C>T | CA362378336 | PROP1 | c.623G>A (p.Cys208Tyr)
| gnomAD v4 |
| 5 | g.177992767_177992768insCC | CA2676774787 | PROP1 | c.623_624insGG (p.Cys208TrpfsTer29)
| gnomAD v4 |
| 5 | g.177992767_177992768insTGGGGGGGGGGGGGGGGCC | CA2676774785 | PROP1 | c.623_624insGCCCCCCCCCCCCCCCCAG (p.Cys208TrpfsTer19)
| gnomAD v4 |
| 5 | g.177992767dup | CA10620161 | PROP1 | c.623dup (p.Cys208TrpfsTer13)
| ClinVar dbSNP gnomAD v4 |
| 5 | g.177992767_177992768del | CA564901151 | PROP1 | c.622_623del (p.Cys208ProfsTer12)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992767_177992768insGGGGGGGGGGGGGGGGGG | CA2676774840 | PROP1 | c.622_623insCCCCCCCCCCCCCCCCCC (p.Cys208delinsSerProProProProProArg)
| gnomAD v4 |
| 5 | g.177992767_177992768insGGGGGGGGGGGGGGGGGGA | CA1084892851 | PROP1 | c.622_623insTCCCCCCCCCCCCCCCCCC (p.Cys208PhefsTer19)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992768A= | CA1603813971 | PROP1 | c.622T= (p.Cys208=)
| |
| 5 | g.177992768A>C | CA362378339 | PROP1 | c.622T>G (p.Cys208Gly)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992768A>G | CA362378340 | PROP1 | c.622T>C (p.Cys208Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177992768A>T | CA362378341 | PROP1 | c.622T>A (p.Cys208Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.177992768_177992771del | CA2578500625 | PROP1 | c.619_622del (p.Pro207AlafsTer28)
| |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGAAGGG | CA1084892850 | PROP1 | c.622_623insTCCCCCCCCCCCCCCCCCT (p.Cys208PhefsTer19)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992768_177992769insAG | CA2676774866 | PROP1 | c.621_622insCT (p.Cys208LeufsTer29)
| gnomAD v4 |
| 5 | g.177992768_177992769insAAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2676774862 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTT (p.Cys208ProfsTer41)
| gnomAD v4 |
| 5 | g.177992769G>A | CA448346473 | PROP1 | c.621C>T (p.Pro207=)
| |
| 5 | g.177992769G>C | CA448346472 | PROP1 | c.621C>G (p.Pro207=)
| |
| 5 | g.177992769G>T | CA448346471 | PROP1 | c.621C>A (p.Pro207=)
| dbSNP gnomAD v4 |
| 5 | g.177992770_177992771insTGGGGGGGGGCGGGGGGGGGGGGGGGGGCCCGG | CA2676774856 | PROP1 | c.621_622insGGGCCCCCCCCCCCCCCCCCGCCCCCCCCCACC (p.Pro207_Cys208insGlyProProProProProProProProProThr)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGG | CA1084892853 | PROP1 | c.621_622insCCCCCCCCCCCCC (p.Cys208ProfsTer17)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGG | CA564901153 | PROP1 | c.621_622insCCCCCCCCCCCCCC (p.Cys208ProfsTer33)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGAGGGG | CA1084892852 | PROP1 | c.621_622insCTCCCCCCCCCCCCCCCCC (p.Cys208LeufsTer19)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCGGGG | CA1084892857 | PROP1 | c.621_622insCGCCCCCCCCCCCCCCCCC (p.Cys208ArgfsTer19)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGAGGGG | CA564901154 | PROP1 | c.621_622insCTCCCCCCCCCCCCCCCCCC (p.Cys208LeufsTer35)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGG | CA1084892856 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCC (p.Cys208ProfsTer35)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGG | CA1084892855 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208ProfsTer36)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGG | CA1084892858 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCCCCCC (p.Pro207_Cys208insProProProProProProProPro)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGG | CA1084892854 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208ProfsTer21)
| gnomAD v3 gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2676774857 | PROP1 | c.621_622insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208ProfsTer25)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGGG | CA2740711163 | PROP1 | c.621_622insCGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208ArgfsTer25)
| |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGGG | CA2676774864 | PROP1 | c.621_622insCGGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208ArgfsTer41)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAGGGG | CA2740711164 | PROP1 | c.621_622insCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Cys208LeufsTer41)
| |
| 5 | g.177992771dup | CA564901152 | PROP1 | c.621dup (p.Cys208LeufsTer13)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992769_177992772del | CA2578500626 | PROP1 | c.618_621del (p.Pro207AlafsTer28)
| |
| 5 | g.177992770G>A | CA362378342 | PROP1 | c.620C>T (p.Pro207Leu)
| |
| 5 | g.177992770G>C | CA362378343 | PROP1 | c.620C>G (p.Pro207Arg)
| gnomAD v4 |
| 5 | g.177992770G>T | CA362378344 | PROP1 | c.620C>A (p.Pro207His)
| gnomAD v4 |
| 5 | g.177992771G>A | CA362378345 | PROP1 | c.619C>T (p.Pro207Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.177992771G>C | CA362378347 | PROP1 | c.619C>G (p.Pro207Ala)
| gnomAD v4 |
| 5 | g.177992771G= | CA1603813972 | PROP1 | c.619C= (p.Pro207=)
| |
| 5 | g.177992771G>T | CA362378346 | PROP1 | c.619C>A (p.Pro207Thr)
| gnomAD v4 |
| 5 | g.177992771_177992772insGC | CA2676774914 | PROP1 | c.618_619insGC (p.Pro207AlafsTer30)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGCCCGGC | CA2676774915 | PROP1 | c.618_619insGCCGGGCC (p.Pro207AlafsTer32)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGCCTGGC | CA2676774918 | PROP1 | c.618_619insGCCAGGCC (p.Pro207AlafsTer32)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCCGGC | CA2676774926 | PROP1 | c.618_619insGCCGGCCC (p.Pro207AlafsTer32)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCGGGC | CA2676774928 | PROP1 | c.618_619insGCCCGCCC (p.Pro207AlafsTer32)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCTGGC | CA2676774929 | PROP1 | c.618_619insGCCAGCCC (p.Pro207AlafsTer32)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCCCGCC | CA2676774921 | PROP1 | c.618_619insGGCGGGCCC (p.Leu206_Pro207insGlyGlyPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCCCGGC | CA2676774923 | PROP1 | c.618_619insGCCGGGCCC (p.Leu206_Pro207insAlaGlyPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCCTGGC | CA2676774910 | PROP1 | c.618_619insGCCAGGCCC (p.Leu206_Pro207insAlaArgPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGCCCCGGC | CA2676774920 | PROP1 | c.618_619insGCCGGGGCCC (p.Pro207AlafsTer17)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGCCCGGC | CA2676774938 | PROP1 | c.618_619insGCCGGGCCCC (p.Pro207AlafsTer17)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGCCCGGC | CA2676774946 | PROP1 | c.618_619insGCCGGGCCCCCC (p.Leu206_Pro207insAlaGlyProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGCCGGC | CA2676774939 | PROP1 | c.618_619insGCCGGCCCCCCC (p.Leu206_Pro207insAlaGlyProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGCCCCGGC | CA2676774948 | PROP1 | c.618_619insGCCGGGGCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGCCCGCC | CA2676774942 | PROP1 | c.618_619insGGCGGGCCCCCCC (p.Pro207GlyfsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGCCCGGC | CA2676774940 | PROP1 | c.618_619insGCCGGGCCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGCCTGGC | CA2676774931 | PROP1 | c.618_619insGCCAGGCCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCCGGC | CA2676774911 | PROP1 | c.618_619insGCCGGCCCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCGGGC | CA2676774908 | PROP1 | c.618_619insGCCCGCCCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCTGGC | CA2676774886 | PROP1 | c.618_619insGCCAGCCCCCCCC (p.Pro207AlafsTer18)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGCCCCGGC | CA2676774944 | PROP1 | c.618_619insGCCGGGGCCCCCCC (p.Pro207AlafsTer34)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCCCGCC | CA2676774933 | PROP1 | c.618_619insGGCGGGCCCCCCCC (p.Pro207GlyfsTer34)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCCCGGC | CA2676774932 | PROP1 | c.618_619insGCCGGGCCCCCCCC (p.Pro207AlafsTer34)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCCTGGC | CA2676774885 | PROP1 | c.618_619insGCCAGGCCCCCCCC (p.Pro207AlafsTer34)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGCCCCGGC | CA2676774935 | PROP1 | c.618_619insGCCGGGGCCCCCCCC (p.Leu206_Pro207insAlaGlyAlaProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGCCCGGC | CA2676774887 | PROP1 | c.618_619insGCCGGGCCCCCCCCC (p.Leu206_Pro207insAlaGlyProProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGCCCGGC | CA2676774888 | PROP1 | c.618_619insGCCGGGCCCCCCCCCC (p.Pro207AlafsTer19)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGCCGGC | CA2676774890 | PROP1 | c.618_619insGCCGGCCCCCCCCCCC (p.Pro207AlafsTer19)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGCCCGGC | CA2676774889 | PROP1 | c.618_619insGCCGGGCCCCCCCCCCC (p.Pro207AlafsTer35)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGCCCGGC | CA2676774891 | PROP1 | c.618_619insGCCGGGCCCCCCCCCCCC (p.Leu206_Pro207insAlaGlyProProProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCTGGC | CA2676774898 | PROP1 | c.618_619insGCCAGCCCCCCCCCCCCCC (p.Pro207AlafsTer20)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGCCCGGC | CA2676774892 | PROP1 | c.618_619insGCCGGGCCCCCCCCCCCCC (p.Pro207AlafsTer20)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGCCTGGC | CA2676774894 | PROP1 | c.618_619insGCCAGGCCCCCCCCCCCCC (p.Pro207AlafsTer20)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCCGGC | CA2676774896 | PROP1 | c.618_619insGCCGGCCCCCCCCCCCCCC (p.Pro207AlafsTer20)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGCCGGGC | CA2676774893 | PROP1 | c.618_619insGCCCGGCCCCCCCCCCCCC (p.Pro207AlafsTer20)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGCGGGC | CA2676774900 | PROP1 | c.618_619insGCCCGCCCCCCCCCCCCCCC (p.Pro207AlafsTer36)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCCCGGC | CA2676774895 | PROP1 | c.618_619insGCCGGGCCCCCCCCCCCCCC (p.Pro207AlafsTer36)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGCCGGGC | CA2769598581 | PROP1 | c.618_619insGCCCGGCCCCCCCCCCCCCC (p.Pro207AlafsTer36)
| |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGAGGGC | CA564901155 | PROP1 | c.618_619insGCCCTCCCCCCCCCCCCCCCC (p.Leu206_Pro207insAlaLeuProProProProPro)
| gnomAD v2 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGCCGGC | CA2676774904 | PROP1 | c.618_619insGCCGGCCCCCCCCCCCCCCCCC (p.Pro207AlafsTer21)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGCCCGGC | CA2676774903 | PROP1 | c.618_619insGCCGGGCCCCCCCCCCCCCCCCC (p.Pro207AlafsTer37)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGCCCCGGC | CA2676774902 | PROP1 | c.618_619insGCCGGGGCCCCCCCCCCCCCCCCC (p.Leu206_Pro207insAlaGlyAlaProProProProPro)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGCCCCGGC | CA2676774906 | PROP1 | c.618_619insGCCGGGGCCCCCCCCCCCCCCCCCC (p.Pro207AlafsTer22)
| gnomAD v4 |
| 5 | g.177992771_177992772insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2740711165 | PROP1 | c.618_619insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC (p.Pro207AlafsTer26)
| |
| 5 | g.177992772C>A | CA3587491 | PROP1 | c.618G>T (p.Leu206=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.177992772C= | CA1603813973 | PROP1 | c.618G= (p.Leu206=)
| |
| 5 | g.177992772C>G | CA448346474 | PROP1 | c.618G>C (p.Leu206=)
| |
| 5 | g.177992772C>T | CA3587492 | PROP1 | c.618G>A (p.Leu206=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.177992772dup | CA2676774913 | PROP1 | c.618dup (p.Pro207AlafsTer14)
| gnomAD v4 |
