Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.18596666C>A | CA404850513 | CRLF1 | c.980G>T (p.Trp327Leu) c.445G>T c.914G>T (p.Trp305Leu) | |
19 | g.18596666C>G | CA404850514 | CRLF1 | c.980G>C (p.Trp327Ser) c.445G>C c.914G>C (p.Trp305Ser) | |
19 | g.18596666C>T | CA404850515 | CRLF1 | c.980G>A (p.Trp327Ter) c.445G>A c.914G>A (p.Trp305Ter) | |
19 | g.18596667A>C | CA404850517 | CRLF1 | c.979T>G (p.Trp327Gly) c.444T>G c.913T>G (p.Trp305Gly) | |
19 | g.18596667A>G | CA404850518 | CRLF1 | c.979T>C (p.Trp327Arg) c.444T>C c.913T>C (p.Trp305Arg) | |
19 | g.18596667A>T | CA404850516 | CRLF1 | c.979T>A (p.Trp327Arg) c.444T>A c.913T>A (p.Trp305Arg) | |
19 | g.18596668G>A | CA506116308 | CRLF1 | c.978C>T (p.Ile326=) c.443C>T c.912C>T (p.Ile304=) | |
19 | g.18596668G>C | CA404850519 | CRLF1 | c.978C>G (p.Ile326Met) c.443C>G c.912C>G (p.Ile304Met) | |
19 | g.18596668G>T | CA506116309 | CRLF1 | c.978C>A (p.Ile326=) c.443C>A c.912C>A (p.Ile304=) | gnomAD v4 |
19 | g.18596669A= | CA2326432248 | CRLF1 | c.977T= (p.Ile326=) c.442T= c.911T= (p.Ile304=) | |
19 | g.18596669A>C | CA404850520 | CRLF1 | c.977T>G (p.Ile326Ser) c.442T>G c.911T>G (p.Ile304Ser) | |
19 | g.18596669A>G | CA404850521 | CRLF1 | c.977T>C (p.Ile326Thr) c.442T>C c.911T>C (p.Ile304Thr) | |
19 | g.18596669A>T | CA9314041 | CRLF1 | c.977T>A (p.Ile326Asn) c.442T>A c.911T>A (p.Ile304Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596670T>A | CA404850522 | CRLF1 | c.976A>T (p.Ile326Phe) c.441A>T c.910A>T (p.Ile304Phe) | |
19 | g.18596670T>C | CA9314042 | CRLF1 | c.976A>G (p.Ile326Val) c.441A>G c.910A>G (p.Ile304Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596670T>G | CA404850523 | CRLF1 | c.976A>C (p.Ile326Leu) c.441A>C c.910A>C (p.Ile304Leu) | |
19 | g.18596670T= | CA2326432249 | CRLF1 | c.976A= (p.Ile326=) c.441A= c.910A= (p.Ile304=) | |
19 | g.18596671C>A | CA506116310 | CRLF1 | c.975G>T (p.Gly325=) c.440G>T c.909G>T (p.Gly303=) | |
19 | g.18596671C= | CA2326432250 | CRLF1 | c.975G= (p.Gly325=) c.440G= c.909G= (p.Gly303=) | |
19 | g.18596671C>G | CA506116311 | CRLF1 | c.975G>C (p.Gly325=) c.440G>C c.909G>C (p.Gly303=) | |
19 | g.18596671C>T | CA506116312 | CRLF1 | c.975G>A (p.Gly325=) c.440G>A c.909G>A (p.Gly303=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596672C>A | CA404850524 | CRLF1 | c.974G>T (p.Gly325Val) c.439G>T c.908G>T (p.Gly303Val) | |
19 | g.18596672C>G | CA404850525 | CRLF1 | c.974G>C (p.Gly325Ala) c.439G>C c.908G>C (p.Gly303Ala) | |
19 | g.18596672C>T | CA404850526 | CRLF1 | c.974G>A (p.Gly325Glu) c.439G>A c.908G>A (p.Gly303Glu) | |
19 | g.18596673C>A | CA404850527 | CRLF1 | c.973G>T (p.Gly325Trp) c.438G>T c.907G>T (p.Gly303Trp) | |
19 | g.18596673C= | CA2326432251 | CRLF1 | c.973G= (p.Gly325=) c.438G= c.907G= (p.Gly303=) | |
19 | g.18596673C>G | CA404850528 | CRLF1 | c.973G>C (p.Gly325Arg) c.438G>C c.907G>C (p.Gly303Arg) | |
19 | g.18596673C>T | CA306260312 | CRLF1 | c.973G>A (p.Gly325Arg) c.438G>A c.907G>A (p.Gly303Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.18596674G>A | CA9314043 | CRLF1 | c.972C>T (p.Ala324=) c.437C>T c.906C>T (p.Ala302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596674G>C | CA506116313 | CRLF1 | c.972C>G (p.Ala324=) c.437C>G c.906C>G (p.Ala302=) | ClinVar dbSNP gnomAD v4 |
19 | g.18596674G= | CA2326432252 | CRLF1 | c.972C= (p.Ala324=) c.437C= c.906C= (p.Ala302=) | |
19 | g.18596674G>T | CA506116314 | CRLF1 | c.972C>A (p.Ala324=) c.437C>A c.906C>A (p.Ala302=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596675del | CA2583603054 | CRLF1 | c.972del (p.Ile326SerfsTer?) c.437del c.906del (p.Ile304SerfsTer?) | gnomAD v4 |
19 | g.18596675G>A | CA404850529 | CRLF1 | c.971C>T (p.Ala324Val) c.436C>T c.905C>T (p.Ala302Val) | |
19 | g.18596675G>C | CA9314044 | CRLF1 | c.971C>G (p.Ala324Gly) c.436C>G c.905C>G (p.Ala302Gly) | dbSNP ExAC |
19 | g.18596675G= | CA2326432253 | CRLF1 | c.971C= (p.Ala324=) c.436C= c.905C= (p.Ala302=) | |
19 | g.18596675G>T | CA404850530 | CRLF1 | c.971C>A (p.Ala324Asp) c.436C>A c.905C>A (p.Ala302Asp) | |
19 | g.18596676C>A | CA404850531 | CRLF1 | c.970G>T (p.Ala324Ser) c.435G>T c.904G>T (p.Ala302Ser) | gnomAD v4 |
19 | g.18596676C>G | CA404850533 | CRLF1 | c.970G>C (p.Ala324Pro) c.435G>C c.904G>C (p.Ala302Pro) | |
19 | g.18596676C>T | CA404850532 | CRLF1 | c.970G>A (p.Ala324Thr) c.435G>A c.904G>A (p.Ala302Thr) | |
19 | g.18596676_18596682delinsCTTTCTT | CA2326432254 | CRLF1 | c.964_970delinsAAGAAAG (p.Lys322=) c.429_435delinsAAGAAAG c.898_904delinsAAGAAAG (p.Lys300=) | |
19 | g.18596677T>A | CA404850534 | CRLF1 | c.969A>T (p.Lys323Asn) c.434A>T c.903A>T (p.Lys301Asn) | |
19 | g.18596677T>C | CA506116315 | CRLF1 | c.969A>G (p.Lys323=) c.434A>G c.903A>G (p.Lys301=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596677T>G | CA404850535 | CRLF1 | c.969A>C (p.Lys323Asn) c.434A>C c.903A>C (p.Lys301Asn) | |
19 | g.18596677T= | CA2326432255 | CRLF1 | c.969A= (p.Lys323=) c.434A= c.903A= (p.Lys301=) | |
19 | g.18596677_18596682del | CA783933388 | CRLF1 | c.964_969del (p.Lys322_Lys323del) c.429_434del c.898_903del (p.Lys300_Lys301del) | dbSNP |
19 | g.18596678T>A | CA404850536 | CRLF1 | c.968A>T (p.Lys323Ile) c.433A>T c.902A>T (p.Lys301Ile) | |
19 | g.18596678T>C | CA404850537 | CRLF1 | c.968A>G (p.Lys323Arg) c.433A>G c.902A>G (p.Lys301Arg) | |
19 | g.18596678T>G | CA404850538 | CRLF1 | c.968A>C (p.Lys323Thr) c.433A>C c.902A>C (p.Lys301Thr) | |
19 | g.18596679T>A | CA404850539 | CRLF1 | c.967A>T (p.Lys323Ter) c.432A>T c.901A>T (p.Lys301Ter) | |
19 | g.18596679T>C | CA404850540 | CRLF1 | c.967A>G (p.Lys323Glu) c.432A>G c.901A>G (p.Lys301Glu) | |
19 | g.18596679T>G | CA404850541 | CRLF1 | c.967A>C (p.Lys323Gln) c.432A>C c.901A>C (p.Lys301Gln) | |
19 | g.18596680C>A | CA404850542 | CRLF1 | c.966G>T (p.Lys322Asn) c.431G>T c.900G>T (p.Lys300Asn) | |
19 | g.18596680C>G | CA404850543 | CRLF1 | c.966G>C (p.Lys322Asn) c.431G>C c.900G>C (p.Lys300Asn) | gnomAD v4 |
19 | g.18596680C>T | CA506116316 | CRLF1 | c.966G>A (p.Lys322=) c.431G>A c.900G>A (p.Lys300=) | ClinVar gnomAD v4 |
19 | g.18596681T>A | CA404850546 | CRLF1 | c.965A>T (p.Lys322Met) c.430A>T c.899A>T (p.Lys300Met) | |
19 | g.18596681T>C | CA404850545 | CRLF1 | c.965A>G (p.Lys322Arg) c.430A>G c.899A>G (p.Lys300Arg) | dbSNP gnomAD v4 |
19 | g.18596681T>G | CA404850544 | CRLF1 | c.965A>C (p.Lys322Thr) c.430A>C c.899A>C (p.Lys300Thr) | gnomAD v4 |
19 | g.18596681T= | CA2326432256 | CRLF1 | c.965A= (p.Lys322=) c.430A= c.899A= (p.Lys300=) | |
19 | g.18596682T>A | CA404850547 | CRLF1 | c.964A>T (p.Lys322Ter) c.429A>T c.898A>T (p.Lys300Ter) | |
19 | g.18596682T>C | CA9314045 | CRLF1 | c.964A>G (p.Lys322Glu) c.429A>G c.898A>G (p.Lys300Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596682T>G | CA404850548 | CRLF1 | c.964A>C (p.Lys322Gln) c.429A>C c.898A>C (p.Lys300Gln) | gnomAD v4 |
19 | g.18596682T= | CA2326432257 | CRLF1 | c.964A= (p.Lys322=) c.429A= c.898A= (p.Lys300=) | |
19 | g.18596683G>A | CA506116318 | CRLF1 | c.963C>T (p.Ser321=) c.428C>T c.897C>T (p.Ser299=) | |
19 | g.18596683G>C | CA506116319 | CRLF1 | c.963C>G (p.Ser321=) c.428C>G c.897C>G (p.Ser299=) | |
19 | g.18596683G>T | CA506116317 | CRLF1 | c.963C>A (p.Ser321=) c.428C>A c.897C>A (p.Ser299=) | gnomAD v4 |
19 | g.18596684G>A | CA404850549 | CRLF1 | c.962C>T (p.Ser321Phe) c.427C>T c.896C>T (p.Ser299Phe) | |
19 | g.18596684G>C | CA404850550 | CRLF1 | c.962C>G (p.Ser321Cys) c.427C>G c.896C>G (p.Ser299Cys) | |
19 | g.18596684G>T | CA404850551 | CRLF1 | c.962C>A (p.Ser321Tyr) c.427C>A c.896C>A (p.Ser299Tyr) | gnomAD v4 |
19 | g.18596685A>C | CA404850552 | CRLF1 | c.961T>G (p.Ser321Ala) c.426T>G c.895T>G (p.Ser299Ala) | |
19 | g.18596685A>G | CA404850553 | CRLF1 | c.961T>C (p.Ser321Pro) c.426T>C c.895T>C (p.Ser299Pro) | |
19 | g.18596685A>T | CA404850554 | CRLF1 | c.961T>A (p.Ser321Thr) c.426T>A c.895T>A (p.Ser299Thr) | |
19 | g.18596686G>A | CA9314046 | CRLF1 | c.960C>T (p.Gly320=) c.425C>T c.894C>T (p.Gly298=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596686G>C | CA506116323 | CRLF1 | c.960C>G (p.Gly320=) c.425C>G c.894C>G (p.Gly298=) | dbSNP gnomAD v4 |
19 | g.18596686G= | CA2326432258 | CRLF1 | c.960C= (p.Gly320=) c.425C= c.894C= (p.Gly298=) | |
19 | g.18596686G>T | CA506116322 | CRLF1 | c.960C>A (p.Gly320=) c.425C>A c.894C>A (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596687C>A | CA404850555 | CRLF1 | c.959G>T (p.Gly320Val) c.424G>T c.893G>T (p.Gly298Val) | |
19 | g.18596687C= | CA2326432259 | CRLF1 | c.959G= (p.Gly320=) c.424G= c.893G= (p.Gly298=) | |
19 | g.18596687C>G | CA404850556 | CRLF1 | c.959G>C (p.Gly320Ala) c.424G>C c.893G>C (p.Gly298Ala) | |
19 | g.18596687C>T | CA404850557 | CRLF1 | c.959G>A (p.Gly320Asp) c.424G>A c.893G>A (p.Gly298Asp) | dbSNP |
19 | g.18596688C>A | CA404850560 | CRLF1 | c.958G>T (p.Gly320Cys) c.423G>T c.892G>T (p.Gly298Cys) | |
19 | g.18596688C= | CA2326432260 | CRLF1 | c.958G= (p.Gly320=) c.423G= c.892G= (p.Gly298=) | |
19 | g.18596688C>G | CA404850558 | CRLF1 | c.958G>C (p.Gly320Arg) c.423G>C c.892G>C (p.Gly298Arg) | |
19 | g.18596688C>T | CA404850559 | CRLF1 | c.958G>A (p.Gly320Ser) c.423G>A c.892G>A (p.Gly298Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596689A= | CA2326432261 | CRLF1 | c.957T= (p.Tyr319=) c.422T= c.891T= (p.Tyr297=) | |
19 | g.18596689A>C | CA404850561 | CRLF1 | c.957T>G (p.Tyr319Ter) c.422T>G c.891T>G (p.Tyr297Ter) | gnomAD v4 |
19 | g.18596689A>G | CA506116327 | CRLF1 | c.957T>C (p.Tyr319=) c.422T>C c.891T>C (p.Tyr297=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596689A>T | CA404850562 | CRLF1 | c.957T>A (p.Tyr319Ter) c.422T>A c.891T>A (p.Tyr297Ter) | |
19 | g.18596690T>A | CA404850563 | CRLF1 | c.956A>T (p.Tyr319Phe) c.421A>T c.890A>T (p.Tyr297Phe) | |
19 | g.18596690T>C | CA404850564 | CRLF1 | c.956A>G (p.Tyr319Cys) c.421A>G c.890A>G (p.Tyr297Cys) | |
19 | g.18596690T>G | CA404850565 | CRLF1 | c.956A>C (p.Tyr319Ser) c.421A>C c.890A>C (p.Tyr297Ser) | |
19 | g.18596691A>C | CA404850566 | CRLF1 | c.955T>G (p.Tyr319Asp) c.420T>G c.889T>G (p.Tyr297Asp) | |
19 | g.18596691A>G | CA404850567 | CRLF1 | c.955T>C (p.Tyr319His) c.420T>C c.889T>C (p.Tyr297His) | |
19 | g.18596691A>T | CA404850568 | CRLF1 | c.955T>A (p.Tyr319Asn) c.420T>A c.889T>A (p.Tyr297Asn) | |
19 | g.18596692G>A | CA506116329 | CRLF1 | c.954C>T (p.Ile318=) c.419C>T c.888C>T (p.Ile296=) | dbSNP gnomAD v4 |
19 | g.18596692G>C | CA404850569 | CRLF1 | c.954C>G (p.Ile318Met) c.419C>G c.888C>G (p.Ile296Met) | |
19 | g.18596692G= | CA2326432262 | CRLF1 | c.954C= (p.Ile318=) c.419C= c.888C= (p.Ile296=) | |
19 | g.18596692G>T | CA506116330 | CRLF1 | c.954C>A (p.Ile318=) c.419C>A c.888C>A (p.Ile296=) | |
19 | g.18596693A>C | CA404850570 | CRLF1 | c.953T>G (p.Ile318Ser) c.418T>G c.887T>G (p.Ile296Ser) | |
19 | g.18596693A>G | CA404850571 | CRLF1 | c.953T>C (p.Ile318Thr) c.418T>C c.887T>C (p.Ile296Thr) | |
19 | g.18596693A>T | CA404850572 | CRLF1 | c.953T>A (p.Ile318Asn) c.418T>A c.887T>A (p.Ile296Asn) | |
19 | g.18596694T>A | CA404850575 | CRLF1 | c.952A>T (p.Ile318Phe) c.417A>T c.886A>T (p.Ile296Phe) | |
19 | g.18596694T>C | CA404850574 | CRLF1 | c.952A>G (p.Ile318Val) c.417A>G c.886A>G (p.Ile296Val) | |
19 | g.18596694T>G | CA404850573 | CRLF1 | c.952A>C (p.Ile318Leu) c.417A>C c.886A>C (p.Ile296Leu) | |
19 | g.18596695G>A | CA506116334 | CRLF1 | c.951C>T (p.Gly317=) c.416C>T c.885C>T (p.Gly295=) | gnomAD v4 |
19 | g.18596695G>C | CA506116335 | CRLF1 | c.951C>G (p.Gly317=) c.416C>G c.885C>G (p.Gly295=) | |
19 | g.18596695G>T | CA506116336 | CRLF1 | c.951C>A (p.Gly317=) c.416C>A c.885C>A (p.Gly295=) | |
19 | g.18596696C>A | CA404850576 | CRLF1 | c.950G>T (p.Gly317Val) c.415G>T c.884G>T (p.Gly295Val) | |
19 | g.18596696C>G | CA404850578 | CRLF1 | c.950G>C (p.Gly317Ala) c.415G>C c.884G>C (p.Gly295Ala) | |
19 | g.18596696C>T | CA404850577 | CRLF1 | c.950G>A (p.Gly317Asp) c.415G>A c.884G>A (p.Gly295Asp) | |
19 | g.18596697C>A | CA404850579 | CRLF1 | c.949G>T (p.Gly317Cys) c.414G>T c.883G>T (p.Gly295Cys) | |
19 | g.18596697C>G | CA404850580 | CRLF1 | c.949G>C (p.Gly317Arg) c.414G>C c.883G>C (p.Gly295Arg) | |
19 | g.18596697C>T | CA404850581 | CRLF1 | c.949G>A (p.Gly317Ser) c.414G>A c.883G>A (p.Gly295Ser) | gnomAD v4 |
19 | g.18596698A>C | CA404850582 | CRLF1 | c.948T>G (p.Phe316Leu) c.413T>G c.882T>G (p.Phe294Leu) | |
19 | g.18596698A>G | CA506116339 | CRLF1 | c.948T>C (p.Phe316=) c.413T>C c.882T>C (p.Phe294=) | |
19 | g.18596698A>T | CA404850583 | CRLF1 | c.948T>A (p.Phe316Leu) c.413T>A c.882T>A (p.Phe294Leu) | |
19 | g.18596699A>C | CA404850586 | CRLF1 | c.947T>G (p.Phe316Cys) c.412T>G c.881T>G (p.Phe294Cys) | |
19 | g.18596699A>G | CA404850585 | CRLF1 | c.947T>C (p.Phe316Ser) c.412T>C c.881T>C (p.Phe294Ser) | |
19 | g.18596699A>T | CA404850584 | CRLF1 | c.947T>A (p.Phe316Tyr) c.412T>A c.881T>A (p.Phe294Tyr) | |
19 | g.18596700A>C | CA404850587 | CRLF1 | c.946T>G (p.Phe316Val) c.411T>G c.880T>G (p.Phe294Val) | |
19 | g.18596700A>G | CA404850588 | CRLF1 | c.946T>C (p.Phe316Leu) c.411T>C c.880T>C (p.Phe294Leu) | |
19 | g.18596700A>T | CA404850589 | CRLF1 | c.946T>A (p.Phe316Ile) c.411T>A c.880T>A (p.Phe294Ile) | |
19 | g.18596701G>A | CA506116341 | CRLF1 | c.945C>T (p.Pro315=) c.410C>T c.879C>T (p.Pro293=) | dbSNP gnomAD v4 |
19 | g.18596701G>C | CA506116342 | CRLF1 | c.945C>G (p.Pro315=) c.410C>G c.879C>G (p.Pro293=) | |
19 | g.18596701G= | CA2326432263 | CRLF1 | c.945C= (p.Pro315=) c.410C= c.879C= (p.Pro293=) | |
19 | g.18596701G>T | CA506116343 | CRLF1 | c.945C>A (p.Pro315=) c.410C>A c.879C>A (p.Pro293=) | |
19 | g.18596702G>A | CA404850590 | CRLF1 | c.944C>T (p.Pro315Leu) c.409C>T c.878C>T (p.Pro293Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596702G>C | CA404850591 | CRLF1 | c.944C>G (p.Pro315Arg) c.409C>G c.878C>G (p.Pro293Arg) | |
19 | g.18596702G= | CA2326432264 | CRLF1 | c.944C= (p.Pro315=) c.409C= c.878C= (p.Pro293=) | |
19 | g.18596702G>T | CA404850592 | CRLF1 | c.944C>A (p.Pro315His) c.409C>A c.878C>A (p.Pro293His) | |
19 | g.18596703G>A | CA404850593 | CRLF1 | c.943C>T (p.Pro315Ser) c.408C>T c.877C>T (p.Pro293Ser) | gnomAD v4 |
19 | g.18596703G>C | CA404850595 | CRLF1 | c.943C>G (p.Pro315Ala) c.408C>G c.877C>G (p.Pro293Ala) | |
19 | g.18596703G>T | CA404850594 | CRLF1 | c.943C>A (p.Pro315Thr) c.408C>A c.877C>A (p.Pro293Thr) | |
19 | g.18596704G>A | CA506116345 | CRLF1 | c.942C>T (p.Asn314=) c.407C>T c.876C>T (p.Asn292=) | gnomAD v4 |
19 | g.18596704G>C | CA404850596 | CRLF1 | c.942C>G (p.Asn314Lys) c.407C>G c.876C>G (p.Asn292Lys) | |
19 | g.18596704G>T | CA404850597 | CRLF1 | c.942C>A (p.Asn314Lys) c.407C>A c.876C>A (p.Asn292Lys) | |
19 | g.18596705T>A | CA404850598 | CRLF1 | c.941A>T (p.Asn314Ile) c.406A>T c.875A>T (p.Asn292Ile) | |
19 | g.18596705T>C | CA404850599 | CRLF1 | c.941A>G (p.Asn314Ser) c.406A>G c.875A>G (p.Asn292Ser) | |
19 | g.18596705T>G | CA404850600 | CRLF1 | c.941A>C (p.Asn314Thr) c.406A>C c.875A>C (p.Asn292Thr) | |
19 | g.18596706T>A | CA404850601 | CRLF1 | c.940A>T (p.Asn314Tyr) c.405A>T c.874A>T (p.Asn292Tyr) | |
19 | g.18596706T>C | CA9314047 | CRLF1 | c.940A>G (p.Asn314Asp) c.405A>G c.874A>G (p.Asn292Asp) | dbSNP ExAC gnomAD v2 |
19 | g.18596706T>G | CA404850602 | CRLF1 | c.940A>C (p.Asn314His) c.405A>C c.874A>C (p.Asn292His) | |
19 | g.18596706T= | CA2326432265 | CRLF1 | c.940A= (p.Asn314=) c.405A= c.874A= (p.Asn292=) | |
19 | g.18596707G>A | CA506116347 | CRLF1 | c.939C>T (p.Cys313=) c.404C>T c.873C>T (p.Cys291=) | |
19 | g.18596707G>C | CA404850603 | CRLF1 | c.939C>G (p.Cys313Trp) c.404C>G c.873C>G (p.Cys291Trp) | |
19 | g.18596707G>T | CA404850604 | CRLF1 | c.939C>A (p.Cys313Ter) c.404C>A c.873C>A (p.Cys291Ter) | |
19 | g.18596707_18596708delinsGC | CA2326432266 | CRLF1 | c.938_939delinsGC (p.Cys313=) c.403_404delinsGC c.872_873delinsGC (p.Cys291=) | |
19 | g.18596708del | CA632626055 | CRLF1 | c.938del (p.Cys313SerfsTer?) c.403del c.872del (p.Cys291SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596708C>A | CA404850607 | CRLF1 | c.938G>T (p.Cys313Phe) c.403G>T c.872G>T (p.Cys291Phe) | |
19 | g.18596708C>G | CA404850606 | CRLF1 | c.938G>C (p.Cys313Ser) c.403G>C c.872G>C (p.Cys291Ser) | |
19 | g.18596708C>T | CA404850605 | CRLF1 | c.938G>A (p.Cys313Tyr) c.403G>A c.872G>A (p.Cys291Tyr) | |
19 | g.18596709A>C | CA404850608 | CRLF1 | c.937T>G (p.Cys313Gly) c.402T>G c.871T>G (p.Cys291Gly) | |
19 | g.18596709A>G | CA404850609 | CRLF1 | c.937T>C (p.Cys313Arg) c.402T>C c.871T>C (p.Cys291Arg) | |
19 | g.18596709A>T | CA404850610 | CRLF1 | c.937T>A (p.Cys313Ser) c.402T>A c.871T>A (p.Cys291Ser) | |
19 | g.18596710G>A | CA506116353 | CRLF1 | c.936C>T (p.Arg312=) c.401C>T c.870C>T (p.Arg290=) | |
19 | g.18596710G>C | CA506116352 | CRLF1 | c.936C>G (p.Arg312=) c.401C>G c.870C>G (p.Arg290=) | |
19 | g.18596710G>T | CA506116351 | CRLF1 | c.936C>A (p.Arg312=) c.401C>A c.870C>A (p.Arg290=) | |
19 | g.18596711C>A | CA9314048 | CRLF1 | c.935G>T (p.Arg312Leu) c.400G>T c.869G>T (p.Arg290Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596711C= | CA2326432267 | CRLF1 | c.935G= (p.Arg312=) c.400G= c.869G= (p.Arg290=) | |
19 | g.18596711C>G | CA404850611 | CRLF1 | c.935G>C (p.Arg312Pro) c.400G>C c.869G>C (p.Arg290Pro) | dbSNP gnomAD v4 |
19 | g.18596711C>T | CA342071 | CRLF1 | c.935G>A (p.Arg312His) c.400G>A c.869G>A (p.Arg290His) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596712G>A | CA9314049 | CRLF1 | c.934C>T (p.Arg312Cys) c.399C>T c.868C>T (p.Arg290Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596712G>C | CA404850612 | CRLF1 | c.934C>G (p.Arg312Gly) c.399C>G c.868C>G (p.Arg290Gly) | gnomAD v4 |
19 | g.18596712G= | CA2326432268 | CRLF1 | c.934C= (p.Arg312=) c.399C= c.868C= (p.Arg290=) | |
19 | g.18596712G>T | CA404850613 | CRLF1 | c.934C>A (p.Arg312Ser) c.399C>A c.868C>A (p.Arg290Ser) | |
19 | g.18596713C>A | CA506116355 | CRLF1 | c.933G>T (p.Val311=) c.398G>T c.867G>T (p.Val289=) | |
19 | g.18596713C>G | CA506116356 | CRLF1 | c.933G>C (p.Val311=) c.398G>C c.867G>C (p.Val289=) | |
19 | g.18596713C>T | CA506116357 | CRLF1 | c.933G>A (p.Val311=) c.398G>A c.867G>A (p.Val289=) | gnomAD v4 |
19 | g.18596714A>C | CA404850614 | CRLF1 | c.932T>G (p.Val311Gly) c.397T>G c.866T>G (p.Val289Gly) | |
19 | g.18596714A>G | CA404850615 | CRLF1 | c.932T>C (p.Val311Ala) c.397T>C c.866T>C (p.Val289Ala) | |
19 | g.18596714A>T | CA404850616 | CRLF1 | c.932T>A (p.Val311Glu) c.397T>A c.866T>A (p.Val289Glu) | |
19 | g.18596715C>A | CA404850618 | CRLF1 | c.931G>T (p.Val311Leu) c.396G>T c.865G>T (p.Val289Leu) | |
19 | g.18596715C= | CA2326432269 | CRLF1 | c.931G= (p.Val311=) c.396G= c.865G= (p.Val289=) | |
19 | g.18596715C>G | CA306260326 | CRLF1 | c.931G>C (p.Val311Leu) c.396G>C c.865G>C (p.Val289Leu) | dbSNP |
19 | g.18596715C>T | CA404850617 | CRLF1 | c.931G>A (p.Val311Met) c.396G>A c.865G>A (p.Val289Met) | |
19 | g.18596716T>A | CA404850619 | CRLF1 | c.930A>T (p.Gln310His) c.395A>T c.864A>T (p.Gln288His) | |
19 | g.18596716T>C | CA506116359 | CRLF1 | c.930A>G (p.Gln310=) c.395A>G c.864A>G (p.Gln288=) | gnomAD v4 |
19 | g.18596716T>G | CA404850620 | CRLF1 | c.930A>C (p.Gln310His) c.395A>C c.864A>C (p.Gln288His) | |
19 | g.18596717T>A | CA404850621 | CRLF1 | c.929A>T (p.Gln310Leu) c.394A>T c.863A>T (p.Gln288Leu) | |
19 | g.18596717T>C | CA404850622 | CRLF1 | c.929A>G (p.Gln310Arg) c.394A>G c.863A>G (p.Gln288Arg) | |
19 | g.18596717T>G | CA404850623 | CRLF1 | c.929A>C (p.Gln310Pro) c.394A>C c.863A>C (p.Gln288Pro) | |
19 | g.18596718G>A | CA404850626 | CRLF1 | c.928C>T (p.Gln310Ter) c.393C>T c.862C>T (p.Gln288Ter) | |
19 | g.18596718G>C | CA404850624 | CRLF1 | c.928C>G (p.Gln310Glu) c.393C>G c.862C>G (p.Gln288Glu) | |
19 | g.18596718G>T | CA404850625 | CRLF1 | c.928C>A (p.Gln310Lys) c.393C>A c.862C>A (p.Gln288Lys) | |
19 | g.18596719C>A | CA506116361 | CRLF1 | c.927G>T (p.Val309=) c.392G>T c.861G>T (p.Val287=) | dbSNP |
19 | g.18596719C= | CA2326432270 | CRLF1 | c.927G= (p.Val309=) c.392G= c.861G= (p.Val287=) | |
19 | g.18596719C>G | CA506116363 | CRLF1 | c.927G>C (p.Val309=) c.392G>C c.861G>C (p.Val287=) | |
19 | g.18596719C>T | CA506116365 | CRLF1 | c.927G>A (p.Val309=) c.392G>A c.861G>A (p.Val287=) | |
19 | g.18596720A= | CA2326432271 | CRLF1 | c.926T= (p.Val309=) c.391T= c.860T= (p.Val287=) | |
19 | g.18596720A>C | CA404850627 | CRLF1 | c.926T>G (p.Val309Gly) c.391T>G c.860T>G (p.Val287Gly) | |
19 | g.18596720A>G | CA404850628 | CRLF1 | c.926T>C (p.Val309Ala) c.391T>C c.860T>C (p.Val287Ala) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596720A>T | CA404850629 | CRLF1 | c.926T>A (p.Val309Glu) c.391T>A c.860T>A (p.Val287Glu) | |
19 | g.18596721C>A | CA306260329 | CRLF1 | c.925G>T (p.Val309Leu) c.390G>T c.859G>T (p.Val287Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596721C= | CA2326432272 | CRLF1 | c.925G= (p.Val309=) c.390G= c.859G= (p.Val287=) | |
19 | g.18596721C>G | CA404850630 | CRLF1 | c.925G>C (p.Val309Leu) c.390G>C c.859G>C (p.Val287Leu) | |
19 | g.18596721C>T | CA404850631 | CRLF1 | c.925G>A (p.Val309Met) c.390G>A c.859G>A (p.Val287Met) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596722G>A | CA506116367 | CRLF1 | c.924C>T (p.Phe308=) c.389C>T c.858C>T (p.Phe286=) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596722G>C | CA404850632 | CRLF1 | c.924C>G (p.Phe308Leu) c.389C>G c.858C>G (p.Phe286Leu) | |
19 | g.18596722G= | CA2326432273 | CRLF1 | c.924C= (p.Phe308=) c.389C= c.858C= (p.Phe286=) | |
19 | g.18596722G>T | CA404850633 | CRLF1 | c.924C>A (p.Phe308Leu) c.389C>A c.858C>A (p.Phe286Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596722dup | CA2583602660 | CRLF1 | c.924dup (p.Val309ArgfsTer21) c.389dup c.858dup (p.Val287ArgfsTer21) | gnomAD v4 |
19 | g.18596723A>C | CA404850634 | CRLF1 | c.923T>G (p.Phe308Cys) c.388T>G c.857T>G (p.Phe286Cys) | |
19 | g.18596723A>G | CA404850636 | CRLF1 | c.923T>C (p.Phe308Ser) c.388T>C c.857T>C (p.Phe286Ser) | |
19 | g.18596723A>T | CA404850635 | CRLF1 | c.923T>A (p.Phe308Tyr) c.388T>A c.857T>A (p.Phe286Tyr) | |
19 | g.18596724A= | CA2326432274 | CRLF1 | c.922T= (p.Phe308=) c.387T= c.856T= (p.Phe286=) | |
19 | g.18596724A>C | CA404850637 | CRLF1 | c.922T>G (p.Phe308Val) c.387T>G c.856T>G (p.Phe286Val) | gnomAD v4 |
19 | g.18596724A>G | CA404850639 | CRLF1 | c.922T>C (p.Phe308Leu) c.387T>C c.856T>C (p.Phe286Leu) | dbSNP gnomAD v4 |
19 | g.18596724A>T | CA404850638 | CRLF1 | c.922T>A (p.Phe308Ile) c.387T>A c.856T>A (p.Phe286Ile) | |
19 | g.18596725G>A | CA506116368 | CRLF1 | c.921C>T (p.Tyr307=) c.386C>T c.855C>T (p.Tyr285=) | |
19 | g.18596725G>C | CA404850640 | CRLF1 | c.921C>G (p.Tyr307Ter) c.386C>G c.855C>G (p.Tyr285Ter) | |
19 | g.18596725G>T | CA404850641 | CRLF1 | c.921C>A (p.Tyr307Ter) c.386C>A c.855C>A (p.Tyr285Ter) | |
19 | g.18596726T>A | CA404850642 | CRLF1 | c.920A>T (p.Tyr307Phe) c.385A>T c.854A>T (p.Tyr285Phe) | |
19 | g.18596726T>C | CA404850644 | CRLF1 | c.920A>G (p.Tyr307Cys) c.385A>G c.854A>G (p.Tyr285Cys) | |
19 | g.18596726T>G | CA404850643 | CRLF1 | c.920A>C (p.Tyr307Ser) c.385A>C c.854A>C (p.Tyr285Ser) | |
19 | g.18596727A>C | CA404850645 | CRLF1 | c.919T>G (p.Tyr307Asp) c.384T>G c.853T>G (p.Tyr285Asp) | |
19 | g.18596727A>G | CA404850646 | CRLF1 | c.919T>C (p.Tyr307His) c.384T>C c.853T>C (p.Tyr285His) | gnomAD v4 |
19 | g.18596727A>T | CA404850647 | CRLF1 | c.919T>A (p.Tyr307Asn) c.384T>A c.853T>A (p.Tyr285Asn) | |
19 | g.18596728C>A | CA506116370 | CRLF1 | c.918G>T (p.Val306=) c.383G>T c.852G>T (p.Val284=) | |
19 | g.18596728C>G | CA506116372 | CRLF1 | c.918G>C (p.Val306=) c.383G>C c.852G>C (p.Val284=) | gnomAD v4 |
19 | g.18596728C>T | CA506116371 | CRLF1 | c.918G>A (p.Val306=) c.383G>A c.852G>A (p.Val284=) | |
19 | g.18596729A>C | CA404850648 | CRLF1 | c.917T>G (p.Val306Gly) c.382T>G c.851T>G (p.Val284Gly) | |
19 | g.18596729A>G | CA404850649 | CRLF1 | c.917T>C (p.Val306Ala) c.382T>C c.851T>C (p.Val284Ala) | COSMIC |
19 | g.18596729A>T | CA404850650 | CRLF1 | c.917T>A (p.Val306Glu) c.382T>A c.851T>A (p.Val284Glu) | |
19 | g.18596730C>A | CA404850651 | CRLF1 | c.916G>T (p.Val306Leu) c.381G>T c.850G>T (p.Val284Leu) | dbSNP gnomAD v4 |
19 | g.18596730C= | CA2326432275 | CRLF1 | c.916G= (p.Val306=) c.381G= c.850G= (p.Val284=) | |
19 | g.18596730C>G | CA404850652 | CRLF1 | c.916G>C (p.Val306Leu) c.381G>C c.850G>C (p.Val284Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596730C>T | CA9314050 | CRLF1 | c.916G>A (p.Val306Met) c.381G>A c.850G>A (p.Val284Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596731G>A | CA506116373 | CRLF1 | c.915C>T (p.Thr305=) c.380C>T c.849C>T (p.Thr283=) | gnomAD v4 |
19 | g.18596731G>C | CA506116374 | CRLF1 | c.915C>G (p.Thr305=) c.380C>G c.849C>G (p.Thr283=) | gnomAD v4 |
19 | g.18596731G>T | CA506116375 | CRLF1 | c.915C>A (p.Thr305=) c.380C>A c.849C>A (p.Thr283=) | dbSNP |
19 | g.18596732G>A | CA404850653 | CRLF1 | c.914C>T (p.Thr305Ile) c.379C>T c.848C>T (p.Thr283Ile) | |
19 | g.18596732G>C | CA404850654 | CRLF1 | c.914C>G (p.Thr305Ser) c.379C>G c.848C>G (p.Thr283Ser) | |
19 | g.18596732G>T | CA404850655 | CRLF1 | c.914C>A (p.Thr305Asn) c.379C>A c.848C>A (p.Thr283Asn) | |
19 | g.18596733T>A | CA404850658 | CRLF1 | c.913A>T (p.Thr305Ser) c.378A>T c.847A>T (p.Thr283Ser) | |
19 | g.18596733T>C | CA404850656 | CRLF1 | c.913A>G (p.Thr305Ala) c.378A>G c.847A>G (p.Thr283Ala) | |
19 | g.18596733T>G | CA404850657 | CRLF1 | c.913A>C (p.Thr305Pro) c.378A>C c.847A>C (p.Thr283Pro) | |
19 | g.18596734G>A | CA506116376 | CRLF1 | c.912C>T (p.Gly304=) c.377C>T c.846C>T (p.Gly282=) | |
19 | g.18596734G>C | CA506116377 | CRLF1 | c.912C>G (p.Gly304=) c.377C>G c.846C>G (p.Gly282=) | |
19 | g.18596734G= | CA2326432276 | CRLF1 | c.912C= (p.Gly304=) c.377C= c.846C= (p.Gly282=) | |
19 | g.18596734G>T | CA9314051 | CRLF1 | c.912C>A (p.Gly304=) c.377C>A c.846C>A (p.Gly282=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596735C>A | CA404850659 | CRLF1 | c.911G>T (p.Gly304Val) c.376G>T c.845G>T (p.Gly282Val) | |
19 | g.18596735C>G | CA404850660 | CRLF1 | c.911G>C (p.Gly304Ala) c.376G>C c.845G>C (p.Gly282Ala) | |
19 | g.18596735C>T | CA404850661 | CRLF1 | c.911G>A (p.Gly304Asp) c.376G>A c.845G>A (p.Gly282Asp) | |
19 | g.18596736C>A | CA404850662 | CRLF1 | c.910G>T (p.Gly304Cys) c.375G>T c.844G>T (p.Gly282Cys) | |
19 | g.18596736C= | CA2326432277 | CRLF1 | c.910G= (p.Gly304=) c.375G= c.844G= (p.Gly282=) | |
19 | g.18596736C>G | CA9314052 | CRLF1 | c.910G>C (p.Gly304Arg) c.375G>C c.844G>C (p.Gly282Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596736C>T | CA306260340 | CRLF1 | c.910G>A (p.Gly304Ser) c.375G>A c.844G>A (p.Gly282Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596736_18596738delinsCGG | CA2326432278 | CRLF1 | c.908_910delinsCCG (p.Pro303=) c.373_375delinsCCG c.842_844delinsCCG (p.Pro281=) | |
19 | g.18596737G>A | CA506116381 | CRLF1 | c.909C>T (p.Pro303=) c.374C>T c.843C>T (p.Pro281=) | dbSNP gnomAD v4 |
19 | g.18596737G>C | CA506116382 | CRLF1 | c.909C>G (p.Pro303=) c.374C>G c.843C>G (p.Pro281=) | |
19 | g.18596737G= | CA2326432280 | CRLF1 | c.909C= (p.Pro303=) c.374C= c.843C= (p.Pro281=) | |
19 | g.18596737G>T | CA506116383 | CRLF1 | c.909C>A (p.Pro303=) c.374C>A c.843C>A (p.Pro281=) | |
19 | g.18596739del | CA2583602691 | CRLF1 | c.909del (p.Gly304AlafsTer?) c.374del c.843del (p.Gly282AlafsTer?) | gnomAD v4 |
19 | g.18596738_18596739del | CA2326432279 | CRLF1 | c.908_909del (p.Pro303ArgfsTer26) c.373_374del c.842_843del (p.Pro281ArgfsTer26) | dbSNP |
19 | g.18596738G>A | CA404850663 | CRLF1 | c.908C>T (p.Pro303Leu) c.373C>T c.842C>T (p.Pro281Leu) | gnomAD v4 |
19 | g.18596738G>C | CA404850664 | CRLF1 | c.908C>G (p.Pro303Arg) c.373C>G c.842C>G (p.Pro281Arg) | gnomAD v4 |
19 | g.18596738G>T | CA404850665 | CRLF1 | c.908C>A (p.Pro303His) c.373C>A c.842C>A (p.Pro281His) | |
19 | g.18596739G>A | CA404850668 | CRLF1 | c.907C>T (p.Pro303Ser) c.372C>T c.841C>T (p.Pro281Ser) | gnomAD v4 |
19 | g.18596739G>C | CA404850667 | CRLF1 | c.907C>G (p.Pro303Ala) c.372C>G c.841C>G (p.Pro281Ala) | |
19 | g.18596739G>T | CA404850666 | CRLF1 | c.907C>A (p.Pro303Thr) c.372C>A c.841C>A (p.Pro281Thr) | |
19 | g.18596740T>A | CA404850669 | CRLF1 | c.906A>T (p.Lys302Asn) c.371A>T c.840A>T (p.Lys280Asn) | |
19 | g.18596740T>C | CA506116385 | CRLF1 | c.906A>G (p.Lys302=) c.371A>G c.840A>G (p.Lys280=) | |
19 | g.18596740T>G | CA404850670 | CRLF1 | c.906A>C (p.Lys302Asn) c.371A>C c.840A>C (p.Lys280Asn) | |
19 | g.18596741T>A | CA404850671 | CRLF1 | c.905A>T (p.Lys302Ile) c.370A>T c.839A>T (p.Lys280Ile) | |
19 | g.18596741T>C | CA404850672 | CRLF1 | c.905A>G (p.Lys302Arg) c.370A>G c.839A>G (p.Lys280Arg) | |
19 | g.18596741T>G | CA404850673 | CRLF1 | c.905A>C (p.Lys302Thr) c.370A>C c.839A>C (p.Lys280Thr) | |
19 | g.18596742T>A | CA404850674 | CRLF1 | c.904A>T (p.Lys302Ter) c.369A>T c.838A>T (p.Lys280Ter) | |
19 | g.18596742T>C | CA404850675 | CRLF1 | c.904A>G (p.Lys302Glu) c.369A>G c.838A>G (p.Lys280Glu) | |
19 | g.18596742T>G | CA9314053 | CRLF1 | c.904A>C (p.Lys302Gln) c.369A>C c.838A>C (p.Lys280Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596742T= | CA2326432281 | CRLF1 | c.904A= (p.Lys302=) c.369A= c.838A= (p.Lys280=) | |
19 | g.18596743C>A | CA506116389 | CRLF1 | c.903G>T (p.Leu301=) c.368G>T c.837G>T (p.Leu279=) | |
19 | g.18596743C= | CA2326432282 | CRLF1 | c.903G= (p.Leu301=) c.368G= c.837G= (p.Leu279=) | |
19 | g.18596743C>G | CA9314054 | CRLF1 | c.903G>C (p.Leu301=) c.368G>C c.837G>C (p.Leu279=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596743C>T | CA506116388 | CRLF1 | c.903G>A (p.Leu301=) c.368G>A c.837G>A (p.Leu279=) | dbSNP gnomAD v2 |
19 | g.18596744A>C | CA404850676 | CRLF1 | c.902T>G (p.Leu301Arg) c.367T>G c.836T>G (p.Leu279Arg) | |
19 | g.18596744A>G | CA404850677 | CRLF1 | c.902T>C (p.Leu301Pro) c.367T>C c.836T>C (p.Leu279Pro) | |
19 | g.18596744A>T | CA404850678 | CRLF1 | c.902T>A (p.Leu301Gln) c.367T>A c.836T>A (p.Leu279Gln) | |
19 | g.18596745G>A | CA506116391 | CRLF1 | c.901C>T (p.Leu301=) c.366C>T c.835C>T (p.Leu279=) | |
19 | g.18596745G>C | CA404850679 | CRLF1 | c.901C>G (p.Leu301Val) c.366C>G c.835C>G (p.Leu279Val) | |
19 | g.18596745G>T | CA404850680 | CRLF1 | c.901C>A (p.Leu301Met) c.366C>A c.835C>A (p.Leu279Met) | |
19 | g.18596746G>A | CA506116394 | CRLF1 | c.900C>T (p.Gly300=) c.365C>T c.834C>T (p.Gly278=) | |
19 | g.18596746G>C | CA506116395 | CRLF1 | c.900C>G (p.Gly300=) c.365C>G c.834C>G (p.Gly278=) | |
19 | g.18596746G= | CA2326432283 | CRLF1 | c.900C= (p.Gly300=) c.365C= c.834C= (p.Gly278=) | |
19 | g.18596746G>T | CA9314055 | CRLF1 | c.900C>A (p.Gly300=) c.365C>A c.834C>A (p.Gly278=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596747C>A | CA404850681 | CRLF1 | c.899G>T (p.Gly300Val) c.364G>T c.833G>T (p.Gly278Val) | gnomAD v4 |
19 | g.18596747C>G | CA404850682 | CRLF1 | c.899G>C (p.Gly300Ala) c.364G>C c.833G>C (p.Gly278Ala) | |
19 | g.18596747C>T | CA404850683 | CRLF1 | c.899G>A (p.Gly300Asp) c.364G>A c.833G>A (p.Gly278Asp) | |
19 | g.18596748C>A | CA404850684 | CRLF1 | c.898G>T (p.Gly300Cys) c.363G>T c.832G>T (p.Gly278Cys) | |
19 | g.18596748C= | CA2326432284 | CRLF1 | c.898G= (p.Gly300=) c.363G= c.832G= (p.Gly278=) | |
19 | g.18596748C>G | CA404850685 | CRLF1 | c.898G>C (p.Gly300Arg) c.363G>C c.832G>C (p.Gly278Arg) | gnomAD v4 |
19 | g.18596748C>T | CA404850686 | CRLF1 | c.898G>A (p.Gly300Ser) c.363G>A c.832G>A (p.Gly278Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596749G>A | CA506116396 | CRLF1 | c.897C>T (p.Ala299=) c.362C>T c.831C>T (p.Ala277=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.18596749G>C | CA506116397 | CRLF1 | c.897C>G (p.Ala299=) c.362C>G c.831C>G (p.Ala277=) | |
19 | g.18596749G= | CA2326432285 | CRLF1 | c.897C= (p.Ala299=) c.362C= c.831C= (p.Ala277=) | |
19 | g.18596749G>T | CA506116398 | CRLF1 | c.897C>A (p.Ala299=) c.362C>A c.831C>A (p.Ala277=) | gnomAD v4 |
19 | g.18596750G>A | CA404850687 | CRLF1 | c.896C>T (p.Ala299Val) c.361C>T c.830C>T (p.Ala277Val) | |
19 | g.18596750G>C | CA404850688 | CRLF1 | c.896C>G (p.Ala299Gly) c.361C>G c.830C>G (p.Ala277Gly) | |
19 | g.18596750G>T | CA404850689 | CRLF1 | c.896C>A (p.Ala299Asp) c.361C>A c.830C>A (p.Ala277Asp) | |
19 | g.18596751C>A | CA404850690 | CRLF1 | c.895G>T (p.Ala299Ser) c.360G>T c.829G>T (p.Ala277Ser) | |
19 | g.18596751C>G | CA404850691 | CRLF1 | c.895G>C (p.Ala299Pro) c.360G>C c.829G>C (p.Ala277Pro) | |
19 | g.18596751C>T | CA404850692 | CRLF1 | c.895G>A (p.Ala299Thr) c.360G>A c.829G>A (p.Ala277Thr) | |
19 | g.18596752C>A | CA506116402 | CRLF1 | c.894G>T (p.Leu298=) c.359G>T c.828G>T (p.Leu276=) | |
19 | g.18596752C>G | CA506116403 | CRLF1 | c.894G>C (p.Leu298=) c.359G>C c.828G>C (p.Leu276=) | |
19 | g.18596752C>T | CA506116404 | CRLF1 | c.894G>A (p.Leu298=) c.359G>A c.828G>A (p.Leu276=) | |
19 | g.18596753A= | CA2326432286 | CRLF1 | c.893T= (p.Leu298=) c.358T= c.827T= (p.Leu276=) | |
19 | g.18596753A>C | CA404850695 | CRLF1 | c.893T>G (p.Leu298Arg) c.358T>G c.827T>G (p.Leu276Arg) | dbSNP |
19 | g.18596753A>G | CA404850694 | CRLF1 | c.893T>C (p.Leu298Pro) c.358T>C c.827T>C (p.Leu276Pro) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.18596753A>T | CA404850693 | CRLF1 | c.893T>A (p.Leu298Gln) c.358T>A c.827T>A (p.Leu276Gln) | |
19 | g.18596754G>A | CA506116405 | CRLF1 | c.892C>T (p.Leu298=) c.357C>T c.826C>T (p.Leu276=) | |
19 | g.18596754G>C | CA404850696 | CRLF1 | c.892C>G (p.Leu298Val) c.357C>G c.826C>G (p.Leu276Val) | |
19 | g.18596754G>T | CA404850697 | CRLF1 | c.892C>A (p.Leu298Met) c.357C>A c.826C>A (p.Leu276Met) | |
19 | g.18596755G>A | CA506116406 | CRLF1 | c.891C>T (p.Arg297=) c.356C>T c.825C>T (p.Arg275=) | |
19 | g.18596755G>C | CA506116407 | CRLF1 | c.891C>G (p.Arg297=) c.356C>G c.825C>G (p.Arg275=) | |
19 | g.18596755G>T | CA506116408 | CRLF1 | c.891C>A (p.Arg297=) c.356C>A c.825C>A (p.Arg275=) | |
19 | g.18596756C>A | CA9314056 | CRLF1 | c.890G>T (p.Arg297Leu) c.355G>T c.824G>T (p.Arg275Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.18596756C= | CA2326432287 | CRLF1 | c.890G= (p.Arg297=) c.355G= c.824G= (p.Arg275=) | |
19 | g.18596756C>G | CA404850698 | CRLF1 | c.890G>C (p.Arg297Pro) c.355G>C c.824G>C (p.Arg275Pro) | |
19 | g.18596756C>T | CA9314057 | CRLF1 | c.890G>A (p.Arg297His) c.355G>A c.824G>A (p.Arg275His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596757G>A | CA9314058 | CRLF1 | c.889C>T (p.Arg297Cys) c.354C>T c.823C>T (p.Arg275Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596757G>C | CA404850699 | CRLF1 | c.889C>G (p.Arg297Gly) c.354C>G c.823C>G (p.Arg275Gly) | |
19 | g.18596757G= | CA2326432288 | CRLF1 | c.889C= (p.Arg297=) c.354C= c.823C= (p.Arg275=) | |
19 | g.18596757G>T | CA404850700 | CRLF1 | c.889C>A (p.Arg297Ser) c.354C>A c.823C>A (p.Arg275Ser) | |
19 | g.18596758G>A | CA506116411 | CRLF1 | c.888C>T (p.Cys296=) c.353C>T c.822C>T (p.Cys274=) | |
19 | g.18596758G>C | CA404850701 | CRLF1 | c.888C>G (p.Cys296Trp) c.353C>G c.822C>G (p.Cys274Trp) | |
19 | g.18596758G>T | CA404850702 | CRLF1 | c.888C>A (p.Cys296Ter) c.353C>A c.822C>A (p.Cys274Ter) | COSMIC |
19 | g.18596759C>A | CA404850703 | CRLF1 | c.887G>T (p.Cys296Phe) c.352G>T c.821G>T (p.Cys274Phe) | |
19 | g.18596759C>G | CA404850704 | CRLF1 | c.887G>C (p.Cys296Ser) c.352G>C c.821G>C (p.Cys274Ser) | |
19 | g.18596759C>T | CA404850705 | CRLF1 | c.887G>A (p.Cys296Tyr) c.352G>A c.821G>A (p.Cys274Tyr) | |
19 | g.18596759_18596762delinsCAGG | CA2326432289 | CRLF1 | c.884_887delinsCCTG (p.Ser295=) c.349_352delinsCCTG c.818_821delinsCCTG (p.Ser273=) | |
19 | g.18596760A>C | CA404850706 | CRLF1 | c.886T>G (p.Cys296Gly) c.351T>G c.820T>G (p.Cys274Gly) | |
19 | g.18596760A>G | CA404850707 | CRLF1 | c.886T>C (p.Cys296Arg) c.351T>C c.820T>C (p.Cys274Arg) | |
19 | g.18596760A>T | CA404850708 | CRLF1 | c.886T>A (p.Cys296Ser) c.351T>A c.820T>A (p.Cys274Ser) | |
19 | g.18596763_18596765del | CA994214130 | CRLF1 | c.884_886del (p.Ser295del) c.349_351del c.818_820del (p.Ser273del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAGCCCGCTTC | CA2526224994 | CRLF1 | c.885_886insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Ser295_Cys296insGluAlaGlyPheGlyAlaAspLeuGlyAlaGluLysPheCysAspIleLys) c.350_351insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA c.819_820insGAAGCGGGCTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Ser273_Cys274insGluAlaGlyPheGlyAlaAspLeuGlyAlaGluLysPheCysAspIleLys) | |
19 | g.18596760_18596761insTTTGATGTCGCAGAATTTTTCCGCGCCCAAATCCGCGCCGAAACCCGCTTCGGTAACGGCATAATCGGCCAGATGCAGGGCGAGGCGGGTGGCGGTAACGGAGTTGCAGCCGTGGGCGATGTTGGCGAAG | CA2558194762 | CRLF1 | c.885_886insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Cys296LeufsTer?) c.350_351insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA c.819_820insCTTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTACCGAAGCGGGTTTCGGCGCGGATTTGGGCGCGGAAAAATTCTGCGACATCAAA (p.Cys274LeufsTer?) | |
19 | g.18596761G>A | CA306260370 | CRLF1 | c.885C>T (p.Ser295=) c.350C>T c.819C>T (p.Ser273=) | dbSNP gnomAD v4 COSMIC |
19 | g.18596761G>C | CA506116413 | CRLF1 | c.885C>G (p.Ser295=) c.350C>G c.819C>G (p.Ser273=) | |
19 | g.18596761G= | CA2326432290 | CRLF1 | c.885C= (p.Ser295=) c.350C= c.819C= (p.Ser273=) | |
19 | g.18596761G>T | CA506116415 | CRLF1 | c.885C>A (p.Ser295=) c.350C>A c.819C>A (p.Ser273=) | |
19 | g.18596762G>A | CA404850709 | CRLF1 | c.884C>T (p.Ser295Phe) c.349C>T c.818C>T (p.Ser273Phe) | |
19 | g.18596762G>C | CA404850710 | CRLF1 | c.884C>G (p.Ser295Cys) c.349C>G c.818C>G (p.Ser273Cys) | |
19 | g.18596762G>T | CA404850711 | CRLF1 | c.884C>A (p.Ser295Tyr) c.349C>A c.818C>A (p.Ser273Tyr) | |
19 | g.18596762_18596763insTAACGGCATAATCGGCCAGATGCAGGGCGAGGCGGGTGGCGGTAACGGAGTTGCAGCCGTGGGCGATGTTGGCGA | CA2501863485 | CRLF1 | c.883_884insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA (p.Ser295delinsPheAlaAsnIleAlaHisGlyCysAsnSerValThrAlaThrArgLeuAlaLeuHisLeuAlaAspTyrAlaValThr) c.348_349insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA c.817_818insTCGCCAACATCGCCCACGGCTGCAACTCCGTTACCGCCACCCGCCTCGCCCTGCATCTGGCCGATTATGCCGTTA (p.Ser273delinsPheAlaAsnIleAlaHisGlyCysAsnSerValThrAlaThrArgLeuAlaLeuHisLeuAlaAspTyrAlaValThr) | |
19 | g.18596763A>C | CA404850712 | CRLF1 | c.883T>G (p.Ser295Ala) c.348T>G c.817T>G (p.Ser273Ala) | |
19 | g.18596763A>G | CA404850713 | CRLF1 | c.883T>C (p.Ser295Pro) c.348T>C c.817T>C (p.Ser273Pro) | |
19 | g.18596763A>T | CA404850714 | CRLF1 | c.883T>A (p.Ser295Thr) c.348T>A c.817T>A (p.Ser273Thr) | |
19 | g.18596764G>A | CA506116418 | CRLF1 | c.882C>T (p.Thr294=) c.347C>T c.816C>T (p.Thr272=) | |
19 | g.18596764G>C | CA9314059 | CRLF1 | c.882C>G (p.Thr294=) c.347C>G c.816C>G (p.Thr272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596764G= | CA2326432291 | CRLF1 | c.882C= (p.Thr294=) c.347C= c.816C= (p.Thr272=) | |
19 | g.18596764G>T | CA506116417 | CRLF1 | c.882C>A (p.Thr294=) c.347C>A c.816C>A (p.Thr272=) | |
19 | g.18596764_18596765del | CA2583602703 | CRLF1 | c.881_882del (p.Thr294IlefsTer?) c.346_347del c.815_816del (p.Thr272IlefsTer?) | gnomAD v4 |
19 | g.18596765G>A | CA404850715 | CRLF1 | c.881C>T (p.Thr294Ile) c.346C>T c.815C>T (p.Thr272Ile) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.18596765G>C | CA404850716 | CRLF1 | c.881C>G (p.Thr294Ser) c.346C>G c.815C>G (p.Thr272Ser) | |
19 | g.18596765G= | CA2326432292 | CRLF1 | c.881C= (p.Thr294=) c.346C= c.815C= (p.Thr272=) | |
19 | g.18596765G>T | CA404850717 | CRLF1 | c.881C>A (p.Thr294Asn) c.346C>A c.815C>A (p.Thr272Asn) | |
19 | g.18596766T>A | CA404850718 | CRLF1 | c.880A>T (p.Thr294Ser) c.345A>T c.814A>T (p.Thr272Ser) | |
19 | g.18596766T>C | CA404850719 | CRLF1 | c.880A>G (p.Thr294Ala) c.345A>G c.814A>G (p.Thr272Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.18596766T>G | CA404850720 | CRLF1 | c.880A>C (p.Thr294Pro) c.345A>C c.814A>C (p.Thr272Pro) | |
19 | g.18596766T= | CA2326432293 | CRLF1 | c.880A= (p.Thr294=) c.345A= c.814A= (p.Thr272=) |