Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47566713_47566728delinsGCTCCACGTCCACTCC | CA2427968727 | ARAF | c.632_647delinsGCTCCACGTCCACTCC (p.Arg211=) c.641_656delinsGCTCCACGTCCACTCC (p.Arg214=) c.647_662delinsGCTCCACGTCCACTCC (p.Arg216=) c.-26_-11delinsGCTCCACGTCCACTCC (n.-26_-11delinsGCTCCACGTCCACTCC) | |
X | g.47566715_47566729del | CA875843492 | ARAF | c.634_648del (p.Ser212_Pro216del) c.643_657del (p.Ser215_Pro219del) c.649_663del (p.Ser217_Pro221del) c.-24_-10del (n.-24_-10del) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566727_47566728delinsTT | CA645603173 | ARAF | c.646_647delinsTT (p.Pro216Phe) c.655_656delinsTT (p.Pro219Phe) c.661_662delinsTT (p.Pro221Phe) c.-12_-11delinsTT (n.-12_-11delinsTT) | COSMIC |
X | g.47566729del | CA2561210337 | ARAF | c.648del (p.Asn217ThrfsTer?) c.657del (p.Asn220ThrfsTer?) c.663del (p.Asn222ThrfsTer?) c.-10del (n.-10del) | |
X | g.47566728C>A | CA412813403 | ARAF | c.647C>A (p.Pro216His) c.656C>A (p.Pro219His) c.662C>A (p.Pro221His) c.-11C>A (n.-11C>A) | |
X | g.47566728C>G | CA412813404 | ARAF | c.647C>G (p.Pro216Arg) c.656C>G (p.Pro219Arg) c.662C>G (p.Pro221Arg) c.-11C>G (n.-11C>G) | |
X | g.47566728C>T | CA412813405 | ARAF | c.647C>T (p.Pro216Leu) c.656C>T (p.Pro219Leu) c.662C>T (p.Pro221Leu) c.-11C>T (n.-11C>T) | COSMIC |
X | g.47566729C>A | CA515989190 | ARAF | c.648C>A (p.Pro216=) c.657C>A (p.Pro219=) c.663C>A (p.Pro221=) c.-10C>A (n.-10C>A) | |
X | g.47566729C>G | CA515989191 | ARAF | c.648C>G (p.Pro216=) c.657C>G (p.Pro219=) c.663C>G (p.Pro221=) c.-10C>G (n.-10C>G) | |
X | g.47566729C>T | CA515989193 | ARAF | c.648C>T (p.Pro216=) c.657C>T (p.Pro219=) c.663C>T (p.Pro221=) c.-10C>T (n.-10C>T) | gnomAD v4 |
X | g.47566730A>C | CA412813406 | ARAF | c.649A>C (p.Asn217His) c.658A>C (p.Asn220His) c.664A>C (p.Asn222His) c.-9A>C (n.-9A>C) | |
X | g.47566730A>G | CA412813407 | ARAF | c.649A>G (p.Asn217Asp) c.658A>G (p.Asn220Asp) c.664A>G (p.Asn222Asp) c.-9A>G (n.-9A>G) | |
X | g.47566730A>T | CA412813408 | ARAF | c.649A>T (p.Asn217Tyr) c.658A>T (p.Asn220Tyr) c.664A>T (p.Asn222Tyr) c.-9A>T (n.-9A>T) | |
X | g.47566731A>C | CA412813409 | ARAF | c.650A>C (p.Asn217Thr) c.659A>C (p.Asn220Thr) c.665A>C (p.Asn222Thr) c.-8A>C (n.-8A>C) | |
X | g.47566731A>G | CA412813410 | ARAF | c.650A>G (p.Asn217Ser) c.659A>G (p.Asn220Ser) c.665A>G (p.Asn222Ser) c.-8A>G (n.-8A>G) | ClinVar gnomAD v4 |
X | g.47566731A>T | CA412813411 | ARAF | c.650A>T (p.Asn217Ile) c.659A>T (p.Asn220Ile) c.665A>T (p.Asn222Ile) c.-8A>T (n.-8A>T) | COSMIC |
X | g.47566732C>A | CA412813413 | ARAF | c.651C>A (p.Asn217Lys) c.660C>A (p.Asn220Lys) c.666C>A (p.Asn222Lys) c.-7C>A (n.-7C>A) | dbSNP COSMIC |
X | g.47566732C= | CA2427968733 | ARAF | c.651C= (p.Asn217=) c.660C= (p.Asn220=) c.666C= (p.Asn222=) c.-7C= (n.-7C=) | |
X | g.47566732C>G | CA412813412 | ARAF | c.651C>G (p.Asn217Lys) c.660C>G (p.Asn220Lys) c.666C>G (p.Asn222Lys) c.-7C>G (n.-7C>G) | |
X | g.47566732C>T | CA515989200 | ARAF | c.651C>T (p.Asn217=) c.660C>T (p.Asn220=) c.666C>T (p.Asn222=) c.-7C>T (n.-7C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566733G>A | CA412813414 | ARAF | c.652G>A (p.Val218Ile) c.661G>A (p.Val221Ile) c.667G>A (p.Val223Ile) c.-6G>A (n.-6G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566733G>C | CA412813416 | ARAF | c.652G>C (p.Val218Leu) c.661G>C (p.Val221Leu) c.667G>C (p.Val223Leu) c.-6G>C (n.-6G>C) | dbSNP |
X | g.47566733G= | CA2427968734 | ARAF | c.652G= (p.Val218=) c.661G= (p.Val221=) c.667G= (p.Val223=) c.-6G= (n.-6G=) | |
X | g.47566733G>T | CA412813415 | ARAF | c.652G>T (p.Val218Phe) c.661G>T (p.Val221Phe) c.667G>T (p.Val223Phe) c.-6G>T (n.-6G>T) | |
X | g.47566736_47566744del | CA645603174 | ARAF | c.655_663del (p.His219_Val221del) c.664_672del (p.His222_Val224del) c.670_678del (p.His224_Val226del) c.-3_6del | COSMIC |
X | g.47566734T>A | CA412813417 | ARAF | c.653T>A (p.Val218Asp) c.662T>A (p.Val221Asp) c.668T>A (p.Val223Asp) c.-5T>A (n.-5T>A) | |
X | g.47566734T>C | CA412813418 | ARAF | c.653T>C (p.Val218Ala) c.662T>C (p.Val221Ala) c.668T>C (p.Val223Ala) c.-5T>C (n.-5T>C) | |
X | g.47566734T>G | CA412813419 | ARAF | c.653T>G (p.Val218Gly) c.662T>G (p.Val221Gly) c.668T>G (p.Val223Gly) c.-5T>G (n.-5T>G) | |
X | g.47566735C>A | CA515989204 | ARAF | c.654C>A (p.Val218=) c.663C>A (p.Val221=) c.669C>A (p.Val223=) c.-4C>A (n.-4C>A) | |
X | g.47566735C>G | CA515989205 | ARAF | c.654C>G (p.Val218=) c.663C>G (p.Val221=) c.669C>G (p.Val223=) c.-4C>G (n.-4C>G) | dbSNP |
X | g.47566735C>T | CA515989207 | ARAF | c.654C>T (p.Val218=) c.663C>T (p.Val221=) c.669C>T (p.Val223=) c.-4C>T (n.-4C>T) | |
X | g.47566736C>A | CA412813420 | ARAF | c.655C>A (p.His219Asn) c.664C>A (p.His222Asn) c.670C>A (p.His224Asn) c.-3C>A (n.-3C>A) | dbSNP |
X | g.47566736C>G | CA412813421 | ARAF | c.655C>G (p.His219Asp) c.664C>G (p.His222Asp) c.670C>G (p.His224Asp) c.-3C>G (n.-3C>G) | |
X | g.47566736C>T | CA412813422 | ARAF | c.655C>T (p.His219Tyr) c.664C>T (p.His222Tyr) c.670C>T (p.His224Tyr) c.-3C>T (n.-3C>T) | |
X | g.47566737A= | CA2427968735 | ARAF | c.656A= (p.His219=) c.665A= (p.His222=) c.671A= (p.His224=) c.-2A= (n.-2A=) | |
X | g.47566737A>C | CA412813423 | ARAF | c.656A>C (p.His219Pro) c.665A>C (p.His222Pro) c.671A>C (p.His224Pro) c.-2A>C (n.-2A>C) | |
X | g.47566737A>G | CA412813424 | ARAF | c.656A>G (p.His219Arg) c.665A>G (p.His222Arg) c.671A>G (p.His224Arg) c.-2A>G (n.-2A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566737A>T | CA412813426 | ARAF | c.656A>T (p.His219Leu) c.665A>T (p.His222Leu) c.671A>T (p.His224Leu) c.-2A>T (n.-2A>T) | |
X | g.47566738T>A | CA412813427 | ARAF | c.657T>A (p.His219Gln) c.666T>A (p.His222Gln) c.672T>A (p.His224Gln) c.-1T>A (n.-1T>A) | |
X | g.47566738T>C | CA515989212 | ARAF | c.657T>C (p.His219=) c.666T>C (p.His222=) c.672T>C (p.His224=) c.-1T>C (n.-1T>C) | |
X | g.47566738T>G | CA412813428 | ARAF | c.657T>G (p.His219Gln) c.666T>G (p.His222Gln) c.672T>G (p.His224Gln) c.-1T>G (n.-1T>G) | |
X | g.47566739A>C | CA412813432 | ARAF | c.658A>C (p.Met220Leu) c.667A>C (p.Met223Leu) c.673A>C (p.Met225Leu) c.1A>C (p.Met1Leu) | |
X | g.47566739A>G | CA412813431 | ARAF | c.658A>G (p.Met220Val) c.667A>G (p.Met223Val) c.673A>G (p.Met225Val) c.1A>G (p.Met1Val) | gnomAD v4 |
X | g.47566739A>T | CA412813430 | ARAF | c.658A>T (p.Met220Leu) c.667A>T (p.Met223Leu) c.673A>T (p.Met225Leu) c.1A>T (p.Met1Leu) | |
X | g.47566740T>A | CA412813433 | ARAF | c.659T>A (p.Met220Lys) c.668T>A (p.Met223Lys) c.674T>A (p.Met225Lys) c.2T>A (p.Met1Lys) | |
X | g.47566740T>C | CA412813435 | ARAF | c.659T>C (p.Met220Thr) c.668T>C (p.Met223Thr) c.674T>C (p.Met225Thr) c.2T>C (p.Met1Thr) | |
X | g.47566740T>G | CA412813437 | ARAF | c.659T>G (p.Met220Arg) c.668T>G (p.Met223Arg) c.674T>G (p.Met225Arg) c.2T>G (p.Met1Arg) | |
X | g.47566741G>A | CA412813439 | ARAF | c.660G>A (p.Met220Ile) c.669G>A (p.Met223Ile) c.675G>A (p.Met225Ile) c.3G>A (p.Met1Ile) | |
X | g.47566741G>C | CA412813440 | ARAF | c.660G>C (p.Met220Ile) c.669G>C (p.Met223Ile) c.675G>C (p.Met225Ile) c.3G>C (p.Met1Ile) | |
X | g.47566741G>T | CA412813442 | ARAF | c.660G>T (p.Met220Ile) c.669G>T (p.Met223Ile) c.675G>T (p.Met225Ile) c.3G>T (p.Met1Ile) | |
X | g.47566742del | CA2738526601 | ARAF | c.661del (p.Val221SerfsTer?) c.670del (p.Val224SerfsTer?) c.676del (p.Val226SerfsTer?) c.4del (p.Val2SerfsTer?) | dbSNP |
X | g.47566742G>A | CA412813444 | ARAF | c.661G>A (p.Val221Ile) c.670G>A (p.Val224Ile) c.676G>A (p.Val226Ile) c.4G>A (p.Val2Ile) | |
X | g.47566742G>C | CA412813446 | ARAF | c.661G>C (p.Val221Leu) c.670G>C (p.Val224Leu) c.676G>C (p.Val226Leu) c.4G>C (p.Val2Leu) | dbSNP |
X | g.47566742G>T | CA412813447 | ARAF | c.661G>T (p.Val221Phe) c.670G>T (p.Val224Phe) c.676G>T (p.Val226Phe) c.4G>T (p.Val2Phe) | |
X | g.47566743T>A | CA412813449 | ARAF | c.662T>A (p.Val221Asp) c.671T>A (p.Val224Asp) c.677T>A (p.Val226Asp) c.5T>A (p.Val2Asp) | dbSNP |
X | g.47566743T>C | CA412813451 | ARAF | c.662T>C (p.Val221Ala) c.671T>C (p.Val224Ala) c.677T>C (p.Val226Ala) c.5T>C (p.Val2Ala) | |
X | g.47566743T>G | CA412813452 | ARAF | c.662T>G (p.Val221Gly) c.671T>G (p.Val224Gly) c.677T>G (p.Val226Gly) c.5T>G (p.Val2Gly) | |
X | g.47566744C>A | CA515989223 | ARAF | c.663C>A (p.Val221=) c.672C>A (p.Val224=) c.678C>A (p.Val226=) c.6C>A (p.Val2=) | gnomAD v4 |
X | g.47566744C>G | CA515989224 | ARAF | c.663C>G (p.Val221=) c.672C>G (p.Val224=) c.678C>G (p.Val226=) c.6C>G (p.Val2=) | |
X | g.47566744C>T | CA515989222 | ARAF | c.663C>T (p.Val221=) c.672C>T (p.Val224=) c.678C>T (p.Val226=) c.6C>T (p.Val2=) | |
X | g.47566746_47566751dup | CA2693580434 | ARAF | c.665_670dup (p.Thr223_Thr224insSerThr) c.674_679dup (p.Thr226_Thr227insSerThr) c.680_685dup (p.Thr228_Thr229insSerThr) c.8_13dup (p.Thr4_Thr5insSerThr) | gnomAD v4 |
X | g.47566745A>C | CA412813454 | ARAF | c.664A>C (p.Ser222Arg) c.673A>C (p.Ser225Arg) c.679A>C (p.Ser227Arg) c.7A>C (p.Ser3Arg) | |
X | g.47566745A>G | CA412813457 | ARAF | c.664A>G (p.Ser222Gly) c.673A>G (p.Ser225Gly) c.679A>G (p.Ser227Gly) c.7A>G (p.Ser3Gly) | |
X | g.47566745A>T | CA412813455 | ARAF | c.664A>T (p.Ser222Cys) c.673A>T (p.Ser225Cys) c.679A>T (p.Ser227Cys) c.7A>T (p.Ser3Cys) | |
X | g.47566746G>A | CA10398057 | ARAF | c.665G>A (p.Ser222Asn) c.674G>A (p.Ser225Asn) c.680G>A (p.Ser227Asn) c.8G>A (p.Ser3Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566746G>C | CA412813460 | ARAF | c.665G>C (p.Ser222Thr) c.674G>C (p.Ser225Thr) c.680G>C (p.Ser227Thr) c.8G>C (p.Ser3Thr) | |
X | g.47566746G= | CA2427968736 | ARAF | c.665G= (p.Ser222=) c.674G= (p.Ser225=) c.680G= (p.Ser227=) c.8G= (p.Ser3=) | |
X | g.47566746G>T | CA412813459 | ARAF | c.665G>T (p.Ser222Ile) c.674G>T (p.Ser225Ile) c.680G>T (p.Ser227Ile) c.8G>T (p.Ser3Ile) | dbSNP |
X | g.47566747C>A | CA412813461 | ARAF | c.666C>A (p.Ser222Arg) c.675C>A (p.Ser225Arg) c.681C>A (p.Ser227Arg) c.9C>A (p.Ser3Arg) | |
X | g.47566747C>G | CA412813462 | ARAF | c.666C>G (p.Ser222Arg) c.675C>G (p.Ser225Arg) c.681C>G (p.Ser227Arg) c.9C>G (p.Ser3Arg) | |
X | g.47566747C>T | CA515989225 | ARAF | c.666C>T (p.Ser222=) c.675C>T (p.Ser225=) c.681C>T (p.Ser227=) c.9C>T (p.Ser3=) | dbSNP |
X | g.47566748A>C | CA412813464 | ARAF | c.667A>C (p.Thr223Pro) c.676A>C (p.Thr226Pro) c.682A>C (p.Thr228Pro) c.10A>C (p.Thr4Pro) | |
X | g.47566748A>G | CA412813465 | ARAF | c.667A>G (p.Thr223Ala) c.676A>G (p.Thr226Ala) c.682A>G (p.Thr228Ala) c.10A>G (p.Thr4Ala) | |
X | g.47566748A>T | CA412813467 | ARAF | c.667A>T (p.Thr223Ser) c.676A>T (p.Thr226Ser) c.682A>T (p.Thr228Ser) c.10A>T (p.Thr4Ser) | |
X | g.47566749C>A | CA412813469 | ARAF | c.668C>A (p.Thr223Asn) c.677C>A (p.Thr226Asn) c.683C>A (p.Thr228Asn) c.11C>A (p.Thr4Asn) | |
X | g.47566749C>G | CA412813470 | ARAF | c.668C>G (p.Thr223Ser) c.677C>G (p.Thr226Ser) c.683C>G (p.Thr228Ser) c.11C>G (p.Thr4Ser) | |
X | g.47566749C>T | CA412813472 | ARAF | c.668C>T (p.Thr223Ile) c.677C>T (p.Thr226Ile) c.683C>T (p.Thr228Ile) c.11C>T (p.Thr4Ile) | |
X | g.47566750C>A | CA515989229 | ARAF | c.669C>A (p.Thr223=) c.678C>A (p.Thr226=) c.684C>A (p.Thr228=) c.12C>A (p.Thr4=) | gnomAD v4 |
X | g.47566750C>G | CA515989231 | ARAF | c.669C>G (p.Thr223=) c.678C>G (p.Thr226=) c.684C>G (p.Thr228=) c.12C>G (p.Thr4=) | |
X | g.47566750C>T | CA515989230 | ARAF | c.669C>T (p.Thr223=) c.678C>T (p.Thr226=) c.684C>T (p.Thr228=) c.12C>T (p.Thr4=) | |
X | g.47566751A>C | CA412813473 | ARAF | c.670A>C (p.Thr224Pro) c.679A>C (p.Thr227Pro) c.685A>C (p.Thr229Pro) c.13A>C (p.Thr5Pro) | dbSNP |
X | g.47566751A>G | CA412813474 | ARAF | c.670A>G (p.Thr224Ala) c.679A>G (p.Thr227Ala) c.685A>G (p.Thr229Ala) c.13A>G (p.Thr5Ala) | |
X | g.47566751A>T | CA412813476 | ARAF | c.670A>T (p.Thr224Ser) c.679A>T (p.Thr227Ser) c.685A>T (p.Thr229Ser) c.13A>T (p.Thr5Ser) | |
X | g.47566752C>A | CA412813477 | ARAF | c.671C>A (p.Thr224Lys) c.680C>A (p.Thr227Lys) c.686C>A (p.Thr229Lys) c.14C>A (p.Thr5Lys) | |
X | g.47566752C>G | CA412813479 | ARAF | c.671C>G (p.Thr224Arg) c.680C>G (p.Thr227Arg) c.686C>G (p.Thr229Arg) c.14C>G (p.Thr5Arg) | |
X | g.47566752C>T | CA412813481 | ARAF | c.671C>T (p.Thr224Met) c.680C>T (p.Thr227Met) c.686C>T (p.Thr229Met) c.14C>T (p.Thr5Met) | dbSNP gnomAD v4 COSMIC |
X | g.47566753G>A | CA10398058 | ARAF | c.672G>A (p.Thr224=) c.681G>A (p.Thr227=) c.687G>A (p.Thr229=) c.15G>A (p.Thr5=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566753G>C | CA515989237 | ARAF | c.672G>C (p.Thr224=) c.681G>C (p.Thr227=) c.687G>C (p.Thr229=) c.15G>C (p.Thr5=) | |
X | g.47566753G= | CA2427968737 | ARAF | c.672G= (p.Thr224=) c.681G= (p.Thr227=) c.687G= (p.Thr229=) c.15G= (p.Thr5=) | |
X | g.47566753G>T | CA515989238 | ARAF | c.672G>T (p.Thr224=) c.681G>T (p.Thr227=) c.687G>T (p.Thr229=) c.15G>T (p.Thr5=) | dbSNP |
X | g.47566754G>A | CA412813483 | ARAF | c.673G>A (p.Ala225Thr) c.682G>A (p.Ala228Thr) c.688G>A (p.Ala230Thr) c.16G>A (p.Ala6Thr) | COSMIC |
X | g.47566754G>C | CA412813485 | ARAF | c.673G>C (p.Ala225Pro) c.682G>C (p.Ala228Pro) c.688G>C (p.Ala230Pro) c.16G>C (p.Ala6Pro) | |
X | g.47566754G= | CA2427968738 | ARAF | c.673G= (p.Ala225=) c.682G= (p.Ala228=) c.688G= (p.Ala230=) c.16G= (p.Ala6=) | |
X | g.47566754G>T | CA412813487 | ARAF | c.673G>T (p.Ala225Ser) c.682G>T (p.Ala228Ser) c.688G>T (p.Ala230Ser) c.16G>T (p.Ala6Ser) | dbSNP |
X | g.47566755C>A | CA412813488 | ARAF | c.674C>A (p.Ala225Asp) c.683C>A (p.Ala228Asp) c.689C>A (p.Ala230Asp) c.17C>A (p.Ala6Asp) | dbSNP gnomAD v4 |
X | g.47566755C= | CA2427968739 | ARAF | c.674C= (p.Ala225=) c.683C= (p.Ala228=) c.689C= (p.Ala230=) c.17C= (p.Ala6=) | |
X | g.47566755C>G | CA412813490 | ARAF | c.674C>G (p.Ala225Gly) c.683C>G (p.Ala228Gly) c.689C>G (p.Ala230Gly) c.17C>G (p.Ala6Gly) | |
X | g.47566755C>T | CA412813492 | ARAF | c.674C>T (p.Ala225Val) c.683C>T (p.Ala228Val) c.689C>T (p.Ala230Val) c.17C>T (p.Ala6Val) | |
X | g.47566759dup | CA2832580870 | ARAF | c.678dup (p.Met227HisfsTer16) c.687dup (p.Met230HisfsTer16) c.693dup (p.Met232HisfsTer16) c.21dup (p.Met8HisfsTer16) | |
X | g.47566759del | CA2693580435 | ARAF | c.678del (p.Met227TrpfsTer?) c.687del (p.Met230TrpfsTer?) c.693del (p.Met232TrpfsTer?) c.21del (p.Met8TrpfsTer?) | gnomAD v4 |
X | g.47566756C>A | CA515989239 | ARAF | c.675C>A (p.Ala225=) c.684C>A (p.Ala228=) c.690C>A (p.Ala230=) c.18C>A (p.Ala6=) | |
X | g.47566756C>G | CA515989240 | ARAF | c.675C>G (p.Ala225=) c.684C>G (p.Ala228=) c.690C>G (p.Ala230=) c.18C>G (p.Ala6=) | |
X | g.47566756C>T | CA515989241 | ARAF | c.675C>T (p.Ala225=) c.684C>T (p.Ala228=) c.690C>T (p.Ala230=) c.18C>T (p.Ala6=) | |
X | g.47566757C>A | CA412813493 | ARAF | c.676C>A (p.Pro226Thr) c.685C>A (p.Pro229Thr) c.691C>A (p.Pro231Thr) c.19C>A (p.Pro7Thr) | gnomAD v4 |
X | g.47566757C= | CA2427968740 | ARAF | c.676C= (p.Pro226=) c.685C= (p.Pro229=) c.691C= (p.Pro231=) c.19C= (p.Pro7=) | |
X | g.47566757C>G | CA412813495 | ARAF | c.676C>G (p.Pro226Ala) c.685C>G (p.Pro229Ala) c.691C>G (p.Pro231Ala) c.19C>G (p.Pro7Ala) | |
X | g.47566757C>T | CA412813496 | ARAF | c.676C>T (p.Pro226Ser) c.685C>T (p.Pro229Ser) c.691C>T (p.Pro231Ser) c.19C>T (p.Pro7Ser) | dbSNP gnomAD v4 |
X | g.47566758C>A | CA412813498 | ARAF | c.677C>A (p.Pro226His) c.686C>A (p.Pro229His) c.692C>A (p.Pro231His) c.20C>A (p.Pro7His) | |
X | g.47566758C= | CA2427968741 | ARAF | c.677C= (p.Pro226=) c.686C= (p.Pro229=) c.692C= (p.Pro231=) c.20C= (p.Pro7=) | |
X | g.47566758C>G | CA412813500 | ARAF | c.677C>G (p.Pro226Arg) c.686C>G (p.Pro229Arg) c.692C>G (p.Pro231Arg) c.20C>G (p.Pro7Arg) | |
X | g.47566758C>T | CA412813502 | ARAF | c.677C>T (p.Pro226Leu) c.686C>T (p.Pro229Leu) c.692C>T (p.Pro231Leu) c.20C>T (p.Pro7Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566759C>A | CA515989244 | ARAF | c.678C>A (p.Pro226=) c.687C>A (p.Pro229=) c.693C>A (p.Pro231=) c.21C>A (p.Pro7=) | |
X | g.47566759C>G | CA515989245 | ARAF | c.678C>G (p.Pro226=) c.687C>G (p.Pro229=) c.693C>G (p.Pro231=) c.21C>G (p.Pro7=) | |
X | g.47566759C>T | CA515989246 | ARAF | c.678C>T (p.Pro226=) c.687C>T (p.Pro229=) c.693C>T (p.Pro231=) c.21C>T (p.Pro7=) | |
X | g.47566760A= | CA2427968742 | ARAF | c.679A= (p.Met227=) c.688A= (p.Met230=) c.694A= (p.Met232=) c.22A= (p.Met8=) | |
X | g.47566760A>C | CA412813505 | ARAF | c.679A>C (p.Met227Leu) c.688A>C (p.Met230Leu) c.694A>C (p.Met232Leu) c.22A>C (p.Met8Leu) | |
X | g.47566760A>G | CA10398059 | ARAF | c.679A>G (p.Met227Val) c.688A>G (p.Met230Val) c.694A>G (p.Met232Val) c.22A>G (p.Met8Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566760A>T | CA412813503 | ARAF | c.679A>T (p.Met227Leu) c.688A>T (p.Met230Leu) c.694A>T (p.Met232Leu) c.22A>T (p.Met8Leu) | |
X | g.47566761T>A | CA412813507 | ARAF | c.680T>A (p.Met227Lys) c.689T>A (p.Met230Lys) c.695T>A (p.Met232Lys) c.23T>A (p.Met8Lys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566761T>C | CA412813510 | ARAF | c.680T>C (p.Met227Thr) c.689T>C (p.Met230Thr) c.695T>C (p.Met232Thr) c.23T>C (p.Met8Thr) | |
X | g.47566761T>G | CA412813512 | ARAF | c.680T>G (p.Met227Arg) c.689T>G (p.Met230Arg) c.695T>G (p.Met232Arg) c.23T>G (p.Met8Arg) | gnomAD v4 |
X | g.47566761T= | CA2427968743 | ARAF | c.680T= (p.Met227=) c.689T= (p.Met230=) c.695T= (p.Met232=) c.23T= (p.Met8=) | |
X | g.47566762G>A | CA412813514 | ARAF | c.681G>A (p.Met227Ile) c.690G>A (p.Met230Ile) c.696G>A (p.Met232Ile) c.24G>A (p.Met8Ile) | gnomAD v4 |
X | g.47566762G>C | CA412813516 | ARAF | c.681G>C (p.Met227Ile) c.690G>C (p.Met230Ile) c.696G>C (p.Met232Ile) c.24G>C (p.Met8Ile) | |
X | g.47566762G>T | CA412813517 | ARAF | c.681G>T (p.Met227Ile) c.690G>T (p.Met230Ile) c.696G>T (p.Met232Ile) c.24G>T (p.Met8Ile) | |
X | g.47566763G>A | CA412813522 | ARAF | c.682G>A (p.Asp228Asn) c.691G>A (p.Asp231Asn) c.697G>A (p.Asp233Asn) c.25G>A (p.Asp9Asn) | dbSNP |
X | g.47566763G>C | CA412813519 | ARAF | c.682G>C (p.Asp228His) c.691G>C (p.Asp231His) c.697G>C (p.Asp233His) c.25G>C (p.Asp9His) | dbSNP |
X | g.47566763G= | CA2427968744 | ARAF | c.682G= (p.Asp228=) c.691G= (p.Asp231=) c.697G= (p.Asp233=) c.25G= (p.Asp9=) | |
X | g.47566763G>T | CA412813520 | ARAF | c.682G>T (p.Asp228Tyr) c.691G>T (p.Asp231Tyr) c.697G>T (p.Asp233Tyr) c.25G>T (p.Asp9Tyr) | |
X | g.47566764A>C | CA412813524 | ARAF | c.683A>C (p.Asp228Ala) c.692A>C (p.Asp231Ala) c.698A>C (p.Asp233Ala) c.26A>C (p.Asp9Ala) | |
X | g.47566764A>G | CA412813526 | ARAF | c.683A>G (p.Asp228Gly) c.692A>G (p.Asp231Gly) c.698A>G (p.Asp233Gly) c.26A>G (p.Asp9Gly) | |
X | g.47566764A>T | CA412813527 | ARAF | c.683A>T (p.Asp228Val) c.692A>T (p.Asp231Val) c.698A>T (p.Asp233Val) c.26A>T (p.Asp9Val) | COSMIC |
X | g.47566765C>A | CA412813529 | ARAF | c.684C>A (p.Asp228Glu) c.693C>A (p.Asp231Glu) c.699C>A (p.Asp233Glu) c.27C>A (p.Asp9Glu) | |
X | g.47566765C>G | CA412813530 | ARAF | c.684C>G (p.Asp228Glu) c.693C>G (p.Asp231Glu) c.699C>G (p.Asp233Glu) c.27C>G (p.Asp9Glu) | |
X | g.47566765C>T | CA515989254 | ARAF | c.684C>T (p.Asp228=) c.693C>T (p.Asp231=) c.699C>T (p.Asp233=) c.27C>T (p.Asp9=) | |
X | g.47566766T>A | CA412813532 | ARAF | c.685T>A (p.Ser229Thr) c.694T>A (p.Ser232Thr) c.700T>A (p.Ser234Thr) c.28T>A (p.Ser10Thr) | |
X | g.47566766T>C | CA412813534 | ARAF | c.685T>C (p.Ser229Pro) c.694T>C (p.Ser232Pro) c.700T>C (p.Ser234Pro) c.28T>C (p.Ser10Pro) | |
X | g.47566766T>G | CA412813533 | ARAF | c.685T>G (p.Ser229Ala) c.694T>G (p.Ser232Ala) c.700T>G (p.Ser234Ala) c.28T>G (p.Ser10Ala) | |
X | g.47566767C>A | CA412813536 | ARAF | c.686C>A (p.Ser229Tyr) c.695C>A (p.Ser232Tyr) c.701C>A (p.Ser234Tyr) c.29C>A (p.Ser10Tyr) | |
X | g.47566767C>G | CA412813537 | ARAF | c.686C>G (p.Ser229Cys) c.695C>G (p.Ser232Cys) c.701C>G (p.Ser234Cys) c.29C>G (p.Ser10Cys) | |
X | g.47566767C>T | CA412813538 | ARAF | c.686C>T (p.Ser229Phe) c.695C>T (p.Ser232Phe) c.701C>T (p.Ser234Phe) c.29C>T (p.Ser10Phe) | gnomAD v4 |
X | g.47566768C>A | CA515989260 | ARAF | c.687C>A (p.Ser229=) c.696C>A (p.Ser232=) c.702C>A (p.Ser234=) c.30C>A (p.Ser10=) | |
X | g.47566768C>G | CA515989261 | ARAF | c.687C>G (p.Ser229=) c.696C>G (p.Ser232=) c.702C>G (p.Ser234=) c.30C>G (p.Ser10=) | |
X | g.47566768C>T | CA515989262 | ARAF | c.687C>T (p.Ser229=) c.696C>T (p.Ser232=) c.702C>T (p.Ser234=) c.30C>T (p.Ser10=) | |
X | g.47566769A>C | CA412813539 | ARAF | c.688A>C (p.Asn230His) c.697A>C (p.Asn233His) c.703A>C (p.Asn235His) c.31A>C (p.Asn11His) | |
X | g.47566769A>G | CA412813541 | ARAF | c.688A>G (p.Asn230Asp) c.697A>G (p.Asn233Asp) c.703A>G (p.Asn235Asp) c.31A>G (p.Asn11Asp) | |
X | g.47566769A>T | CA412813542 | ARAF | c.688A>T (p.Asn230Tyr) c.697A>T (p.Asn233Tyr) c.703A>T (p.Asn235Tyr) c.31A>T (p.Asn11Tyr) | |
X | g.47566770A>C | CA412813544 | ARAF | c.689A>C (p.Asn230Thr) c.698A>C (p.Asn233Thr) c.704A>C (p.Asn235Thr) c.32A>C (p.Asn11Thr) | |
X | g.47566770A>G | CA412813546 | ARAF | c.689A>G (p.Asn230Ser) c.698A>G (p.Asn233Ser) c.704A>G (p.Asn235Ser) c.32A>G (p.Asn11Ser) | gnomAD v4 |
X | g.47566770A>T | CA412813547 | ARAF | c.689A>T (p.Asn230Ile) c.698A>T (p.Asn233Ile) c.704A>T (p.Asn235Ile) c.32A>T (p.Asn11Ile) | |
X | g.47566771C>A | CA10398060 | ARAF | c.690C>A (p.Asn230Lys) c.699C>A (p.Asn233Lys) c.705C>A (p.Asn235Lys) c.33C>A (p.Asn11Lys) | dbSNP ExAC gnomAD v2 |
X | g.47566771C= | CA2427968745 | ARAF | c.690C= (p.Asn230=) c.699C= (p.Asn233=) c.705C= (p.Asn235=) c.33C= (p.Asn11=) | |
X | g.47566771C>G | CA412813549 | ARAF | c.690C>G (p.Asn230Lys) c.699C>G (p.Asn233Lys) c.705C>G (p.Asn235Lys) c.33C>G (p.Asn11Lys) | |
X | g.47566771C>T | CA515989267 | ARAF | c.690C>T (p.Asn230=) c.699C>T (p.Asn233=) c.705C>T (p.Asn235=) c.33C>T (p.Asn11=) | |
X | g.47566772C>A | CA412813554 | ARAF | c.691C>A (p.Leu231Ile) c.700C>A (p.Leu234Ile) c.706C>A (p.Leu236Ile) c.34C>A (p.Leu12Ile) | gnomAD v4 |
X | g.47566772C= | CA2427968746 | ARAF | c.691C= (p.Leu231=) c.700C= (p.Leu234=) c.706C= (p.Leu236=) c.34C= (p.Leu12=) | |
X | g.47566772C>G | CA412813553 | ARAF | c.691C>G (p.Leu231Val) c.700C>G (p.Leu234Val) c.706C>G (p.Leu236Val) c.34C>G (p.Leu12Val) | |
X | g.47566772C>T | CA412813551 | ARAF | c.691C>T (p.Leu231Phe) c.700C>T (p.Leu234Phe) c.706C>T (p.Leu236Phe) c.34C>T (p.Leu12Phe) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566773T>A | CA412813555 | ARAF | c.692T>A (p.Leu231His) c.701T>A (p.Leu234His) c.707T>A (p.Leu236His) c.35T>A (p.Leu12His) | dbSNP |
X | g.47566773T>C | CA412813559 | ARAF | c.692T>C (p.Leu231Pro) c.701T>C (p.Leu234Pro) c.707T>C (p.Leu236Pro) c.35T>C (p.Leu12Pro) | |
X | g.47566773T>G | CA412813557 | ARAF | c.692T>G (p.Leu231Arg) c.701T>G (p.Leu234Arg) c.707T>G (p.Leu236Arg) c.35T>G (p.Leu12Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47566773T= | CA2427968747 | ARAF | c.692T= (p.Leu231=) c.701T= (p.Leu234=) c.707T= (p.Leu236=) c.35T= (p.Leu12=) | |
X | g.47566773_47566774insG | CA2840057191 | ARAF | c.692_693insG (p.Ile232HisfsTer11) c.701_702insG (p.Ile235HisfsTer11) c.707_708insG (p.Ile237HisfsTer11) c.35_36insG (p.Ile13HisfsTer11) | |
X | g.47566774C>A | CA515989271 | ARAF | c.693C>A (p.Leu231=) c.702C>A (p.Leu234=) c.708C>A (p.Leu236=) c.36C>A (p.Leu12=) | dbSNP |
X | g.47566774C>G | CA515989272 | ARAF | c.693C>G (p.Leu231=) c.702C>G (p.Leu234=) c.708C>G (p.Leu236=) c.36C>G (p.Leu12=) | |
X | g.47566774C>T | CA515989273 | ARAF | c.693C>T (p.Leu231=) c.702C>T (p.Leu234=) c.708C>T (p.Leu236=) c.36C>T (p.Leu12=) | |
X | g.47566775A= | CA2427968748 | ARAF | c.694A= (p.Ile232=) c.703A= (p.Ile235=) c.709A= (p.Ile237=) c.37A= (p.Ile13=) | |
X | g.47566775A>C | CA412813561 | ARAF | c.694A>C (p.Ile232Leu) c.703A>C (p.Ile235Leu) c.709A>C (p.Ile237Leu) c.37A>C (p.Ile13Leu) | dbSNP gnomAD v4 |
X | g.47566775A>G | CA412813562 | ARAF | c.694A>G (p.Ile232Val) c.703A>G (p.Ile235Val) c.709A>G (p.Ile237Val) c.37A>G (p.Ile13Val) | gnomAD v4 |
X | g.47566775A>T | CA412813564 | ARAF | c.694A>T (p.Ile232Phe) c.703A>T (p.Ile235Phe) c.709A>T (p.Ile237Phe) c.37A>T (p.Ile13Phe) | gnomAD v4 |
X | g.47566776T>A | CA412813565 | ARAF | c.695T>A (p.Ile232Asn) c.704T>A (p.Ile235Asn) c.710T>A (p.Ile237Asn) c.38T>A (p.Ile13Asn) | |
X | g.47566776T>C | CA412813566 | ARAF | c.695T>C (p.Ile232Thr) c.704T>C (p.Ile235Thr) c.710T>C (p.Ile237Thr) c.38T>C (p.Ile13Thr) | |
X | g.47566776T>G | CA412813568 | ARAF | c.695T>G (p.Ile232Ser) c.704T>G (p.Ile235Ser) c.710T>G (p.Ile237Ser) c.38T>G (p.Ile13Ser) | |
X | g.47566777C>A | CA515989275 | ARAF | c.696C>A (p.Ile232=) c.705C>A (p.Ile235=) c.711C>A (p.Ile237=) c.39C>A (p.Ile13=) | COSMIC |
X | g.47566777C= | CA2427968749 | ARAF | c.696C= (p.Ile232=) c.705C= (p.Ile235=) c.711C= (p.Ile237=) c.39C= (p.Ile13=) | |
X | g.47566777C>G | CA10398061 | ARAF | c.696C>G (p.Ile232Met) c.705C>G (p.Ile235Met) c.711C>G (p.Ile237Met) c.39C>G (p.Ile13Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566777C>T | CA515989277 | ARAF | c.696C>T (p.Ile232=) c.705C>T (p.Ile235=) c.711C>T (p.Ile237=) c.39C>T (p.Ile13=) | gnomAD v4 |
X | g.47566778C>A | CA412813570 | ARAF | c.697C>A (p.Gln233Lys) c.706C>A (p.Gln236Lys) c.712C>A (p.Gln238Lys) c.40C>A (p.Gln14Lys) | |
X | g.47566778C>G | CA412813572 | ARAF | c.697C>G (p.Gln233Glu) c.706C>G (p.Gln236Glu) c.712C>G (p.Gln238Glu) c.40C>G (p.Gln14Glu) | dbSNP |
X | g.47566778C>T | CA412813573 | ARAF | c.697C>T (p.Gln233Ter) c.706C>T (p.Gln236Ter) c.712C>T (p.Gln238Ter) c.40C>T (p.Gln14Ter) | |
X | g.47566779A>C | CA412813575 | ARAF | c.698A>C (p.Gln233Pro) c.707A>C (p.Gln236Pro) c.713A>C (p.Gln238Pro) c.41A>C (p.Gln14Pro) | |
X | g.47566779A>G | CA412813576 | ARAF | c.698A>G (p.Gln233Arg) c.707A>G (p.Gln236Arg) c.713A>G (p.Gln238Arg) c.41A>G (p.Gln14Arg) | |
X | g.47566779A>T | CA412813577 | ARAF | c.698A>T (p.Gln233Leu) c.707A>T (p.Gln236Leu) c.713A>T (p.Gln238Leu) c.41A>T (p.Gln14Leu) | |
X | g.47566780G>A | CA515989280 | ARAF | c.699G>A (p.Gln233=) c.708G>A (p.Gln236=) c.714G>A (p.Gln238=) c.42G>A (p.Gln14=) | |
X | g.47566780G>C | CA412813578 | ARAF | c.699G>C (p.Gln233His) c.708G>C (p.Gln236His) c.714G>C (p.Gln238His) c.42G>C (p.Gln14His) | |
X | g.47566780G>T | CA412813580 | ARAF | c.699G>T (p.Gln233His) c.708G>T (p.Gln236His) c.714G>T (p.Gln238His) c.42G>T (p.Gln14His) | |
X | g.47566781G>A | CA412813582 | ARAF | c.699+1G>A (n.699+1G>A) c.708+1G>A (n.708+1G>A) c.714+1G>A (n.714+1G>A) c.42+1G>A (n.42+1G>A) | |
X | g.47566781G>C | CA412813583 | ARAF | c.699+1G>C (n.699+1G>C) c.708+1G>C (n.708+1G>C) c.714+1G>C (n.714+1G>C) c.42+1G>C (n.42+1G>C) | dbSNP |
X | g.47566781G>T | CA412813584 | ARAF | c.699+1G>T (n.699+1G>T) c.708+1G>T (n.708+1G>T) c.714+1G>T (n.714+1G>T) c.42+1G>T (n.42+1G>T) | |
X | g.47566782T>A | CA412813586 | ARAF | c.699+2T>A (n.699+2T>A) c.708+2T>A (n.708+2T>A) c.714+2T>A (n.714+2T>A) c.42+2T>A (n.42+2T>A) | |
X | g.47566782T>C | CA412813588 | ARAF | c.699+2T>C (n.699+2T>C) c.708+2T>C (n.708+2T>C) c.714+2T>C (n.714+2T>C) c.42+2T>C (n.42+2T>C) | |
X | g.47566782T>G | CA412813589 | ARAF | c.699+2T>G (n.699+2T>G) c.708+2T>G (n.708+2T>G) c.714+2T>G (n.714+2T>G) c.42+2T>G (n.42+2T>G) | |
X | g.47566784G>C | CA329053225 | ARAF | c.699+4G>C (n.699+4G>C) c.708+4G>C (n.708+4G>C) c.714+4G>C (n.714+4G>C) c.42+4G>C (n.42+4G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566784G= | CA2427968750 | ARAF | c.699+4G= (n.699+4G=) c.708+4G= (n.708+4G=) c.714+4G= (n.714+4G=) c.42+4G= (n.42+4G=) | |
X | g.47566785G>A | CA2738526844 | ARAF | c.699+5G>A (n.699+5G>A) c.708+5G>A (n.708+5G>A) c.714+5G>A (n.714+5G>A) c.42+5G>A (n.42+5G>A) | dbSNP |
X | g.47566787G>A | CA2738363408 | ARAF | c.699+7G>A (n.699+7G>A) c.708+7G>A (n.708+7G>A) c.714+7G>A (n.714+7G>A) c.42+7G>A (n.42+7G>A) | dbSNP |
X | g.47566787G= | CA2427968751 | ARAF | c.699+7G= (n.699+7G=) c.708+7G= (n.708+7G=) c.714+7G= (n.714+7G=) c.42+7G= (n.42+7G=) | |
X | g.47566787G>T | CA10398062 | ARAF | c.699+7G>T (n.699+7G>T) c.708+7G>T (n.708+7G>T) c.714+7G>T (n.714+7G>T) c.42+7G>T (n.42+7G>T) | dbSNP ExAC gnomAD v2 |
X | g.47566788C>A | CA2693580436 | ARAF | c.699+8C>A (n.699+8C>A) c.708+8C>A (n.708+8C>A) c.714+8C>A (n.714+8C>A) c.42+8C>A (n.42+8C>A) | gnomAD v4 |
X | g.47566788C>G | CA2738526960 | ARAF | c.699+8C>G (n.699+8C>G) c.708+8C>G (n.708+8C>G) c.714+8C>G (n.714+8C>G) c.42+8C>G (n.42+8C>G) | dbSNP |
X | g.47566788C>T | CA2738526990 | ARAF | c.699+8C>T (n.699+8C>T) c.708+8C>T (n.708+8C>T) c.714+8C>T (n.714+8C>T) c.42+8C>T (n.42+8C>T) | dbSNP |
X | g.47566789T>C | CA10398063 | ARAF | c.699+9T>C (n.699+9T>C) c.708+9T>C (n.708+9T>C) c.714+9T>C (n.714+9T>C) c.42+9T>C (n.42+9T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566789T>G | CA2693580437 | ARAF | c.699+9T>G (n.699+9T>G) c.708+9T>G (n.708+9T>G) c.714+9T>G (n.714+9T>G) c.42+9T>G (n.42+9T>G) | gnomAD v4 |
X | g.47566789T= | CA2427968752 | ARAF | c.699+9T= (n.699+9T=) c.708+9T= (n.708+9T=) c.714+9T= (n.714+9T=) c.42+9T= (n.42+9T=) | |
X | g.47566790G>A | CA10398064 | ARAF | c.699+10G>A (n.699+10G>A) c.708+10G>A (n.708+10G>A) c.714+10G>A (n.714+10G>A) c.42+10G>A (n.42+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566790G= | CA2427968753 | ARAF | c.699+10G= (n.699+10G=) c.708+10G= (n.708+10G=) c.714+10G= (n.714+10G=) c.42+10G= (n.42+10G=) | |
X | g.47566791T>G | CA2738526995 | ARAF | c.699+11T>G (n.699+11T>G) c.708+11T>G (n.708+11T>G) c.714+11T>G (n.714+11T>G) c.42+11T>G (n.42+11T>G) | dbSNP |
X | g.47566792G>A | CA2738526996 | ARAF | c.699+12G>A (n.699+12G>A) c.708+12G>A (n.708+12G>A) c.714+12G>A (n.714+12G>A) c.42+12G>A (n.42+12G>A) | dbSNP |
X | g.47566792G>C | CA2693580438 | ARAF | c.699+12G>C (n.699+12G>C) c.708+12G>C (n.708+12G>C) c.714+12G>C (n.714+12G>C) c.42+12G>C (n.42+12G>C) | dbSNP gnomAD v4 |
X | g.47566792G>T | CA2738526997 | ARAF | c.699+12G>T (n.699+12G>T) c.708+12G>T (n.708+12G>T) c.714+12G>T (n.714+12G>T) c.42+12G>T (n.42+12G>T) | dbSNP |
X | g.47566796del | CA2579596415 | ARAF | c.699+16del (n.699+16del) c.708+16del (n.708+16del) c.714+16del (n.714+16del) c.42+16del (n.42+16del) | |
X | g.47566793G>A | CA2738527028 | ARAF | c.699+13G>A (n.699+13G>A) c.708+13G>A (n.708+13G>A) c.714+13G>A (n.714+13G>A) c.42+13G>A (n.42+13G>A) | dbSNP |
X | g.47566793G>T | CA2738527010 | ARAF | c.699+13G>T (n.699+13G>T) c.708+13G>T (n.708+13G>T) c.714+13G>T (n.714+13G>T) c.42+13G>T (n.42+13G>T) | dbSNP |
X | g.47566794G>A | CA2693580439 | ARAF | c.699+14G>A (n.699+14G>A) c.708+14G>A (n.708+14G>A) c.714+14G>A (n.714+14G>A) c.42+14G>A (n.42+14G>A) | dbSNP gnomAD v4 |
X | g.47566794G>C | CA2738527030 | ARAF | c.699+14G>C (n.699+14G>C) c.708+14G>C (n.708+14G>C) c.714+14G>C (n.714+14G>C) c.42+14G>C (n.42+14G>C) | dbSNP |
X | g.47566794G>T | CA2738527031 | ARAF | c.699+14G>T (n.699+14G>T) c.708+14G>T (n.708+14G>T) c.714+14G>T (n.714+14G>T) c.42+14G>T (n.42+14G>T) | dbSNP |
X | g.47566795G>A | CA2427968755 | ARAF | c.699+15G>A (n.699+15G>A) c.708+15G>A (n.708+15G>A) c.714+15G>A (n.714+15G>A) c.42+15G>A (n.42+15G>A) | dbSNP gnomAD v4 |
X | g.47566795G= | CA2427968754 | ARAF | c.699+15G= (n.699+15G=) c.708+15G= (n.708+15G=) c.714+15G= (n.714+15G=) c.42+15G= (n.42+15G=) | |
X | g.47566795G>T | CA2693580440 | ARAF | c.699+15G>T (n.699+15G>T) c.708+15G>T (n.708+15G>T) c.714+15G>T (n.714+15G>T) c.42+15G>T (n.42+15G>T) | dbSNP gnomAD v4 |
X | g.47566796G>A | CA2693580441 | ARAF | c.699+16G>A (n.699+16G>A) c.708+16G>A (n.708+16G>A) c.714+16G>A (n.714+16G>A) c.42+16G>A (n.42+16G>A) | gnomAD v4 |
X | g.47566796G>C | CA2693580442 | ARAF | c.699+16G>C (n.699+16G>C) c.708+16G>C (n.708+16G>C) c.714+16G>C (n.714+16G>C) c.42+16G>C (n.42+16G>C) | gnomAD v4 |
X | g.47566796G>T | CA2693580443 | ARAF | c.699+16G>T (n.699+16G>T) c.708+16G>T (n.708+16G>T) c.714+16G>T (n.714+16G>T) c.42+16G>T (n.42+16G>T) | gnomAD v4 |
X | g.47566797del | CA2738527072 | ARAF | c.699+17del (n.699+17del) c.708+17del (n.708+17del) c.714+17del (n.714+17del) c.42+17del (n.42+17del) | dbSNP |
X | g.47566797A>G | CA2738527059 | ARAF | c.699+17A>G (n.699+17A>G) c.708+17A>G (n.708+17A>G) c.714+17A>G (n.714+17A>G) c.42+17A>G (n.42+17A>G) | dbSNP |
X | g.47566797A>T | CA2738527071 | ARAF | c.699+17A>T (n.699+17A>T) c.708+17A>T (n.708+17A>T) c.714+17A>T (n.714+17A>T) c.42+17A>T (n.42+17A>T) | dbSNP |
X | g.47566798C= | CA2427968756 | ARAF | c.699+18C= (n.699+18C=) c.708+18C= (n.708+18C=) c.714+18C= (n.714+18C=) c.42+18C= (n.42+18C=) | |
X | g.47566798C>G | CA2738363570 | ARAF | c.699+18C>G (n.699+18C>G) c.708+18C>G (n.708+18C>G) c.714+18C>G (n.714+18C>G) c.42+18C>G (n.42+18C>G) | dbSNP |
X | g.47566798C>T | CA10398065 | ARAF | c.699+18C>T (n.699+18C>T) c.708+18C>T (n.708+18C>T) c.714+18C>T (n.714+18C>T) c.42+18C>T (n.42+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566800A>G | CA2693580444 | ARAF | c.699+20A>G (n.699+20A>G) c.708+20A>G (n.708+20A>G) c.714+20A>G (n.714+20A>G) c.42+20A>G (n.42+20A>G) | gnomAD v4 |
X | g.47566800A>T | CA2738527089 | ARAF | c.699+20A>T (n.699+20A>T) c.708+20A>T (n.708+20A>T) c.714+20A>T (n.714+20A>T) c.42+20A>T (n.42+20A>T) | dbSNP |
X | g.47566801T>C | CA2738527102 | ARAF | c.699+21T>C (n.699+21T>C) c.708+21T>C (n.708+21T>C) c.714+21T>C (n.714+21T>C) c.42+21T>C (n.42+21T>C) | dbSNP |
X | g.47566801T>G | CA2738527101 | ARAF | c.699+21T>G (n.699+21T>G) c.708+21T>G (n.708+21T>G) c.714+21T>G (n.714+21T>G) c.42+21T>G (n.42+21T>G) | dbSNP |
X | g.47566803C>A | CA2738527105 | ARAF | c.699+23C>A (n.699+23C>A) c.708+23C>A (n.708+23C>A) c.714+23C>A (n.714+23C>A) c.42+23C>A (n.42+23C>A) | dbSNP |
X | g.47566803C>G | CA2738527171 | ARAF | c.699+23C>G (n.699+23C>G) c.708+23C>G (n.708+23C>G) c.714+23C>G (n.714+23C>G) c.42+23C>G (n.42+23C>G) | dbSNP |
X | g.47566803C>T | CA2738527170 | ARAF | c.699+23C>T (n.699+23C>T) c.708+23C>T (n.708+23C>T) c.714+23C>T (n.714+23C>T) c.42+23C>T (n.42+23C>T) | dbSNP |
X | g.47566804C= | CA2427968757 | ARAF | c.699+24C= (n.699+24C=) c.708+24C= (n.708+24C=) c.714+24C= (n.714+24C=) c.42+24C= (n.42+24C=) | |
X | g.47566804C>T | CA10398066 | ARAF | c.699+24C>T (n.699+24C>T) c.708+24C>T (n.708+24C>T) c.714+24C>T (n.714+24C>T) c.42+24C>T (n.42+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566805G>A | CA10398067 | ARAF | c.699+25G>A (n.699+25G>A) c.708+25G>A (n.708+25G>A) c.714+25G>A (n.714+25G>A) c.42+25G>A (n.42+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566805G>C | CA2693580445 | ARAF | c.699+25G>C (n.699+25G>C) c.708+25G>C (n.708+25G>C) c.714+25G>C (n.714+25G>C) c.42+25G>C (n.42+25G>C) | dbSNP gnomAD v4 |
X | g.47566805G= | CA2427968758 | ARAF | c.699+25G= (n.699+25G=) c.708+25G= (n.708+25G=) c.714+25G= (n.714+25G=) c.42+25G= (n.42+25G=) | |
X | g.47566805G>T | CA329053277 | ARAF | c.699+25G>T (n.699+25G>T) c.708+25G>T (n.708+25G>T) c.714+25G>T (n.714+25G>T) c.42+25G>T (n.42+25G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566806G>A | CA2427968760 | ARAF | c.699+26G>A (n.699+26G>A) c.708+26G>A (n.708+26G>A) c.714+26G>A (n.714+26G>A) c.42+26G>A (n.42+26G>A) | dbSNP |
X | g.47566806G>C | CA2738386015 | ARAF | c.699+26G>C (n.699+26G>C) c.708+26G>C (n.708+26G>C) c.714+26G>C (n.714+26G>C) c.42+26G>C (n.42+26G>C) | dbSNP |
X | g.47566806G= | CA2427968759 | ARAF | c.699+26G= (n.699+26G=) c.708+26G= (n.708+26G=) c.714+26G= (n.714+26G=) c.42+26G= (n.42+26G=) | |
X | g.47566806G>T | CA2693580446 | ARAF | c.699+26G>T (n.699+26G>T) c.708+26G>T (n.708+26G>T) c.714+26G>T (n.714+26G>T) c.42+26G>T (n.42+26G>T) | dbSNP gnomAD v4 |
X | g.47566807G>A | CA10398068 | ARAF | c.699+27G>A (n.699+27G>A) c.708+27G>A (n.708+27G>A) c.714+27G>A (n.714+27G>A) c.42+27G>A (n.42+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566807G= | CA2427968761 | ARAF | c.699+27G= (n.699+27G=) c.708+27G= (n.708+27G=) c.714+27G= (n.714+27G=) c.42+27G= (n.42+27G=) | |
X | g.47566808G>A | CA2738362094 | ARAF | c.699+28G>A (n.699+28G>A) c.708+28G>A (n.708+28G>A) c.714+28G>A (n.714+28G>A) c.42+28G>A (n.42+28G>A) | dbSNP |
X | g.47566808G>C | CA329053278 | ARAF | c.699+28G>C (n.699+28G>C) c.708+28G>C (n.708+28G>C) c.714+28G>C (n.714+28G>C) c.42+28G>C (n.42+28G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566808G= | CA2427968762 | ARAF | c.699+28G= (n.699+28G=) c.708+28G= (n.708+28G=) c.714+28G= (n.714+28G=) c.42+28G= (n.42+28G=) | |
X | g.47566808G>T | CA2738362093 | ARAF | c.699+28G>T (n.699+28G>T) c.708+28G>T (n.708+28G>T) c.714+28G>T (n.714+28G>T) c.42+28G>T (n.42+28G>T) | dbSNP |
X | g.47566809A= | CA2427968763 | ARAF | c.699+29A= (n.699+29A=) c.708+29A= (n.708+29A=) c.714+29A= (n.714+29A=) c.42+29A= (n.42+29A=) | |
X | g.47566809A>G | CA10398069 | ARAF | c.699+29A>G (n.699+29A>G) c.708+29A>G (n.708+29A>G) c.714+29A>G (n.714+29A>G) c.42+29A>G (n.42+29A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566809A>T | CA2427968764 | ARAF | c.699+29A>T (n.699+29A>T) c.708+29A>T (n.708+29A>T) c.714+29A>T (n.714+29A>T) c.42+29A>T (n.42+29A>T) | dbSNP |
X | g.47566810C>A | CA2738527187 | ARAF | c.699+30C>A (n.699+30C>A) c.708+30C>A (n.708+30C>A) c.714+30C>A (n.714+30C>A) c.42+30C>A (n.42+30C>A) | dbSNP |
X | g.47566810C>G | CA2738527175 | ARAF | c.699+30C>G (n.699+30C>G) c.708+30C>G (n.708+30C>G) c.714+30C>G (n.714+30C>G) c.42+30C>G (n.42+30C>G) | dbSNP |
X | g.47566810C>T | CA2693580447 | ARAF | c.699+30C>T (n.699+30C>T) c.708+30C>T (n.708+30C>T) c.714+30C>T (n.714+30C>T) c.42+30C>T (n.42+30C>T) | dbSNP gnomAD v4 |
X | g.47566811C>A | CA2738372240 | ARAF | c.699+31C>A (n.699+31C>A) c.708+31C>A (n.708+31C>A) c.714+31C>A (n.714+31C>A) c.42+31C>A (n.42+31C>A) | dbSNP |
X | g.47566811C= | CA2427968765 | ARAF | c.699+31C= (n.699+31C=) c.708+31C= (n.708+31C=) c.714+31C= (n.714+31C=) c.42+31C= (n.42+31C=) | |
X | g.47566811C>T | CA641900829 | ARAF | c.699+31C>T (n.699+31C>T) c.708+31C>T (n.708+31C>T) c.714+31C>T (n.714+31C>T) c.42+31C>T (n.42+31C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566812A= | CA2427968766 | ARAF | c.699+32A= (n.699+32A=) c.708+32A= (n.708+32A=) c.714+32A= (n.714+32A=) c.42+32A= (n.42+32A=) | |
X | g.47566812A>G | CA329053296 | ARAF | c.699+32A>G (n.699+32A>G) c.708+32A>G (n.708+32A>G) c.714+32A>G (n.714+32A>G) c.42+32A>G (n.42+32A>G) | dbSNP |
X | g.47566813C>A | CA2738527211 | ARAF | c.699+33C>A (n.699+33C>A) c.708+33C>A (n.708+33C>A) c.714+33C>A (n.714+33C>A) c.42+33C>A (n.42+33C>A) | dbSNP |
X | g.47566813C>T | CA2738527271 | ARAF | c.699+33C>T (n.699+33C>T) c.708+33C>T (n.708+33C>T) c.714+33C>T (n.714+33C>T) c.42+33C>T (n.42+33C>T) | dbSNP |
X | g.47566814A>G | CA2693580448 | ARAF | c.699+34A>G (n.699+34A>G) c.708+34A>G (n.708+34A>G) c.714+34A>G (n.714+34A>G) c.42+34A>G (n.42+34A>G) | gnomAD v4 |
X | g.47566814A>T | CA2738527315 | ARAF | c.699+34A>T (n.699+34A>T) c.708+34A>T (n.708+34A>T) c.714+34A>T (n.714+34A>T) c.42+34A>T (n.42+34A>T) | dbSNP |
X | g.47566815G>A | CA2738527317 | ARAF | c.699+35G>A (n.699+35G>A) c.708+35G>A (n.708+35G>A) c.714+35G>A (n.714+35G>A) c.42+35G>A (n.42+35G>A) | dbSNP |
X | g.47566815G>T | CA2738527316 | ARAF | c.699+35G>T (n.699+35G>T) c.708+35G>T (n.708+35G>T) c.714+35G>T (n.714+35G>T) c.42+35G>T (n.42+35G>T) | dbSNP |
X | g.47566816G>A | CA2738527319 | ARAF | c.699+36G>A (n.699+36G>A) c.708+36G>A (n.708+36G>A) c.714+36G>A (n.714+36G>A) c.42+36G>A (n.42+36G>A) | dbSNP |
X | g.47566817G>A | CA2693580449 | ARAF | c.699+37G>A (n.699+37G>A) c.708+37G>A (n.708+37G>A) c.714+37G>A (n.714+37G>A) c.42+37G>A (n.42+37G>A) | dbSNP gnomAD v4 |
X | g.47566818C>G | CA2738527322 | ARAF | c.699+38C>G (n.699+38C>G) c.708+38C>G (n.708+38C>G) c.714+38C>G (n.714+38C>G) c.42+38C>G (n.42+38C>G) | dbSNP |
X | g.47566818C>T | CA2738527363 | ARAF | c.699+38C>T (n.699+38C>T) c.708+38C>T (n.708+38C>T) c.714+38C>T (n.714+38C>T) c.42+38C>T (n.42+38C>T) | dbSNP |
X | g.47566820G>A | CA2693580450 | ARAF | c.699+40G>A (n.699+40G>A) c.708+40G>A (n.708+40G>A) c.714+40G>A (n.714+40G>A) c.42+40G>A (n.42+40G>A) | gnomAD v4 |
X | g.47566820G>C | CA2693580451 | ARAF | c.699+40G>C (n.699+40G>C) c.708+40G>C (n.708+40G>C) c.714+40G>C (n.714+40G>C) c.42+40G>C (n.42+40G>C) | dbSNP gnomAD v4 |
X | g.47566822G>A | CA10398070 | ARAF | c.699+42G>A (n.699+42G>A) c.708+42G>A (n.708+42G>A) c.714+42G>A (n.714+42G>A) c.42+42G>A (n.42+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47566822G= | CA2427968767 | ARAF | c.699+42G= (n.699+42G=) c.708+42G= (n.708+42G=) c.714+42G= (n.714+42G=) c.42+42G= (n.42+42G=) | |
X | g.47566822G>T | CA2841514324 | ARAF | c.699+42G>T (n.699+42G>T) c.708+42G>T (n.708+42G>T) c.714+42G>T (n.714+42G>T) c.42+42G>T (n.42+42G>T) | |
X | g.47566823G>A | CA2738527391 | ARAF | c.699+43G>A (n.699+43G>A) c.708+43G>A (n.708+43G>A) c.714+43G>A (n.714+43G>A) c.42+43G>A (n.42+43G>A) | dbSNP |
X | g.47566823G>T | CA2738527413 | ARAF | c.699+43G>T (n.699+43G>T) c.708+43G>T (n.708+43G>T) c.714+43G>T (n.714+43G>T) c.42+43G>T (n.42+43G>T) | dbSNP |
X | g.47566824G>A | CA2738527418 | ARAF | c.699+44G>A (n.699+44G>A) c.708+44G>A (n.708+44G>A) c.714+44G>A (n.714+44G>A) c.42+44G>A (n.42+44G>A) | dbSNP |
X | g.47566825T>A | CA2738386017 | ARAF | c.699+45T>A (n.699+45T>A) c.708+45T>A (n.708+45T>A) c.714+45T>A (n.714+45T>A) c.42+45T>A (n.42+45T>A) | dbSNP |
X | g.47566825T>C | CA2738386016 | ARAF | c.699+45T>C (n.699+45T>C) c.708+45T>C (n.708+45T>C) c.714+45T>C (n.714+45T>C) c.42+45T>C (n.42+45T>C) | dbSNP |
X | g.47566825T>G | CA1132891793 | ARAF | c.699+45T>G (n.699+45T>G) c.708+45T>G (n.708+45T>G) c.714+45T>G (n.714+45T>G) c.42+45T>G (n.42+45T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47566825T= | CA2427968768 | ARAF | c.699+45T= (n.699+45T=) c.708+45T= (n.708+45T=) c.714+45T= (n.714+45T=) c.42+45T= (n.42+45T=) | |
X | g.47566826A= | CA2427968769 | ARAF | c.699+46A= (n.699+46A=) c.708+46A= (n.708+46A=) c.714+46A= (n.714+46A=) c.42+46A= (n.42+46A=) | |
X | g.47566826A>C | CA2693580452 | ARAF | c.699+46A>C (n.699+46A>C) c.708+46A>C (n.708+46A>C) c.714+46A>C (n.714+46A>C) c.42+46A>C (n.42+46A>C) | gnomAD v4 |
X | g.47566826A>G | CA329053301 | ARAF | c.699+46A>G (n.699+46A>G) c.708+46A>G (n.708+46A>G) c.714+46A>G (n.714+46A>G) c.42+46A>G (n.42+46A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47566826A>T | CA2738364918 | ARAF | c.699+46A>T (n.699+46A>T) c.708+46A>T (n.708+46A>T) c.714+46A>T (n.714+46A>T) c.42+46A>T (n.42+46A>T) | dbSNP |
X | g.47566827G>A | CA2693580453 | ARAF | c.699+47G>A (n.699+47G>A) c.708+47G>A (n.708+47G>A) c.714+47G>A (n.714+47G>A) c.42+47G>A (n.42+47G>A) | dbSNP gnomAD v4 |
X | g.47566828A>G | CA2738527420 | ARAF | c.699+48A>G (n.699+48A>G) c.708+48A>G (n.708+48A>G) c.714+48A>G (n.714+48A>G) c.42+48A>G (n.42+48A>G) | dbSNP |
X | g.47566828A>T | CA2738527422 | ARAF | c.699+48A>T (n.699+48A>T) c.708+48A>T (n.708+48A>T) c.714+48A>T (n.714+48A>T) c.42+48A>T (n.42+48A>T) | dbSNP |