Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177992632A>C | CA2676774165 | PROP1 | c.*77T>G (n.*77T>G) | gnomAD v4 |
5 | g.177992632A>G | CA2676774167 | PROP1 | c.*77T>C (n.*77T>C) | gnomAD v4 |
5 | g.177992633_177992634dup | CA2676774162 | PROP1 | c.*76_*77dup (n.*76_*77dup) | gnomAD v4 |
5 | g.177992634del | CA2676774164 | PROP1 | c.*77del (n.*77del) | dbSNP gnomAD v4 |
5 | g.177992633A>G | CA2676774169 | PROP1 | c.*76T>C (n.*76T>C) | gnomAD v4 |
5 | g.177992634A>G | CA2676774171 | PROP1 | c.*75T>C (n.*75T>C) | gnomAD v4 |
5 | g.177992635G>A | CA2676774173 | PROP1 | c.*74C>T (n.*74C>T) | gnomAD v4 |
5 | g.177992635G>T | CA2676774172 | PROP1 | c.*74C>A (n.*74C>A) | gnomAD v4 |
5 | g.177992636G>A | CA2578500610 | PROP1 | c.*73C>T (n.*73C>T) | gnomAD v4 |
5 | g.177992637A>G | CA2676774175 | PROP1 | c.*72T>C (n.*72T>C) | gnomAD v4 |
5 | g.177992638A>C | CA2676774177 | PROP1 | c.*71T>G (n.*71T>G) | gnomAD v4 |
5 | g.177992638A>G | CA2676774178 | PROP1 | c.*71T>C (n.*71T>C) | gnomAD v4 |
5 | g.177992639G>A | CA808117120 | PROP1 | c.*70C>T (n.*70C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992639G>C | CA564901138 | PROP1 | c.*70C>G (n.*70C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992639G= | CA1603813907 | PROP1 | c.*70C= (n.*70C=) | |
5 | g.177992639G>T | CA2676774180 | PROP1 | c.*70C>A (n.*70C>A) | gnomAD v4 |
5 | g.177992640C>A | CA2676774181 | PROP1 | c.*69G>T (n.*69G>T) | gnomAD v4 |
5 | g.177992640C>T | CA2676774182 | PROP1 | c.*69G>A (n.*69G>A) | gnomAD v4 |
5 | g.177992641C>A | CA2676774183 | PROP1 | c.*68G>T (n.*68G>T) | gnomAD v4 |
5 | g.177992642A>T | CA2578500611 | PROP1 | c.*67T>A (n.*67T>A) | gnomAD v4 |
5 | g.177992643C>T | CA2578500612 | PROP1 | c.*66G>A (n.*66G>A) | gnomAD v4 |
5 | g.177992646del | CA2676774186 | PROP1 | c.*66del (n.*66del) | gnomAD v4 |
5 | g.177992644C>A | CA2676774188 | PROP1 | c.*65G>T (n.*65G>T) | gnomAD v4 |
5 | g.177992644C= | CA1603813908 | PROP1 | c.*65G= (n.*65G=) | |
5 | g.177992644C>G | CA132896963 | PROP1 | c.*65G>C (n.*65G>C) | dbSNP |
5 | g.177992644C>T | CA2578500613 | PROP1 | c.*65G>A (n.*65G>A) | gnomAD v4 |
5 | g.177992645C>A | CA2676774192 | PROP1 | c.*64G>T (n.*64G>T) | gnomAD v4 |
5 | g.177992646C>A | CA2676774194 | PROP1 | c.*63G>T (n.*63G>T) | gnomAD v4 |
5 | g.177992646C>T | CA2676774193 | PROP1 | c.*63G>A (n.*63G>A) | gnomAD v4 |
5 | g.177992647A= | CA1603813909 | PROP1 | c.*62T= (n.*62T=) | |
5 | g.177992647A>G | CA132896965 | PROP1 | c.*62T>C (n.*62T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992647A>T | CA1084892800 | PROP1 | c.*62T>A (n.*62T>A) | gnomAD v3 gnomAD v4 |
5 | g.177992648T>A | CA2676774199 | PROP1 | c.*61A>T (n.*61A>T) | gnomAD v4 |
5 | g.177992648T>C | CA2578500614 | PROP1 | c.*61A>G (n.*61A>G) | gnomAD v4 |
5 | g.177992648T>G | CA2676774202 | PROP1 | c.*61A>C (n.*61A>C) | gnomAD v4 |
5 | g.177992651del | CA2676774197 | PROP1 | c.*61del (n.*61del) | gnomAD v4 |
5 | g.177992649T>C | CA2676774203 | PROP1 | c.*60A>G (n.*60A>G) | gnomAD v4 |
5 | g.177992649T>G | CA2676774204 | PROP1 | c.*60A>C (n.*60A>C) | gnomAD v4 |
5 | g.177992650T>G | CA2676774205 | PROP1 | c.*59A>C (n.*59A>C) | gnomAD v4 |
5 | g.177992651T>G | CA2676774208 | PROP1 | c.*58A>C (n.*58A>C) | gnomAD v4 |
5 | g.177992655_177992659del | CA2578500615 | PROP1 | c.*54_*58del (n.*54_*58del) | gnomAD v4 |
5 | g.177992652C>A | CA2676774210 | PROP1 | c.*57G>T (n.*57G>T) | gnomAD v4 |
5 | g.177992652C>T | CA2676774211 | PROP1 | c.*57G>A (n.*57G>A) | gnomAD v4 |
5 | g.177992654T>C | CA2676774212 | PROP1 | c.*55A>G (n.*55A>G) | gnomAD v4 |
5 | g.177992655G>A | CA132896967 | PROP1 | c.*54C>T (n.*54C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992655G= | CA1603813910 | PROP1 | c.*54C= (n.*54C=) | |
5 | g.177992655G>T | CA2578500616 | PROP1 | c.*54C>A (n.*54C>A) | gnomAD v4 |
5 | g.177992656T>C | CA2676774216 | PROP1 | c.*53A>G (n.*53A>G) | gnomAD v4 |
5 | g.177992656dup | CA2676774215 | PROP1 | c.*53dup (n.*53dup) | gnomAD v4 |
5 | g.177992657C>A | CA2676774219 | PROP1 | c.*52G>T (n.*52G>T) | gnomAD v4 |
5 | g.177992657C= | CA1603813911 | PROP1 | c.*52G= (n.*52G=) | |
5 | g.177992657C>T | CA10624205 | PROP1 | c.*52G>A (n.*52G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992658T>C | CA2676774223 | PROP1 | c.*51A>G (n.*51A>G) | gnomAD v4 |
5 | g.177992660T>A | CA2676774225 | PROP1 | c.*49A>T (n.*49A>T) | gnomAD v4 |
5 | g.177992661T>G | CA3587468 | PROP1 | c.*48A>C (n.*48A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992661T= | CA1603813912 | PROP1 | c.*48A= (n.*48A=) | |
5 | g.177992662C>A | CA2676774228 | PROP1 | c.*47G>T (n.*47G>T) | gnomAD v4 |
5 | g.177992663A>T | CA2676774229 | PROP1 | c.*46T>A (n.*46T>A) | gnomAD v4 |
5 | g.177992664C>A | CA2676774230 | PROP1 | c.*45G>T (n.*45G>T) | gnomAD v4 |
5 | g.177992664C= | CA1603813913 | PROP1 | c.*45G= (n.*45G=) | |
5 | g.177992664C>T | CA3587469 | PROP1 | c.*45G>A (n.*45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.177992664_177992665insT | CA650460159 | PROP1 | c.*44_*45insA (n.*44_*45insA) | COSMIC |
5 | g.177992665G>A | CA3587470 | PROP1 | c.*44C>T (n.*44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.177992665G= | CA1603813914 | PROP1 | c.*44C= (n.*44C=) | |
5 | g.177992665G>T | CA2676774234 | PROP1 | c.*44C>A (n.*44C>A) | gnomAD v4 |
5 | g.177992666A>T | CA2676774235 | PROP1 | c.*43T>A (n.*43T>A) | gnomAD v4 |
5 | g.177992667G>A | CA2676774236 | PROP1 | c.*42C>T (n.*42C>T) | gnomAD v4 |
5 | g.177992667G>T | CA2676774237 | PROP1 | c.*42C>A (n.*42C>A) | gnomAD v4 |
5 | g.177992668G>A | CA1603813916 | PROP1 | c.*41C>T (n.*41C>T) | dbSNP |
5 | g.177992668G= | CA1603813915 | PROP1 | c.*41C= (n.*41C=) | |
5 | g.177992668G>T | CA2578500617 | PROP1 | c.*41C>A (n.*41C>A) | gnomAD v4 |
5 | g.177992669G>A | CA1084892801 | PROP1 | c.*40C>T (n.*40C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.177992669G= | CA1603813917 | PROP1 | c.*40C= (n.*40C=) | |
5 | g.177992669G>T | CA2676774239 | PROP1 | c.*40C>A (n.*40C>A) | gnomAD v4 |
5 | g.177992670C>A | CA2676774241 | PROP1 | c.*39G>T (n.*39G>T) | gnomAD v4 |
5 | g.177992670C>T | CA2676774242 | PROP1 | c.*39G>A (n.*39G>A) | gnomAD v4 |
5 | g.177992671C>A | CA2676774244 | PROP1 | c.*38G>T (n.*38G>T) | gnomAD v4 |
5 | g.177992671C= | CA1603813918 | PROP1 | c.*38G= (n.*38G=) | |
5 | g.177992671C>T | CA3587471 | PROP1 | c.*38G>A (n.*38G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
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 |