Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
2 | g.219418882G>A | CA431427727 | DES | c.420G>A (p.Val140=) | |
2 | g.219418882G>C | CA431427728 | DES | c.420G>C (p.Val140=) | dbSNP |
2 | g.219418882G= | CA1329210059 | DES | c.420G= (p.Val140=) | |
2 | g.219418882G>T | CA431427729 | DES | c.420G>T (p.Val140=) | gnomAD v4 |
2 | g.219418883A>C | CA350686039 | DES | c.421A>C (p.Asn141His) | |
2 | g.219418883A>G | CA350686045 | DES | c.421A>G (p.Asn141Asp) | |
2 | g.219418883A>T | CA350686041 | DES | c.421A>T (p.Asn141Tyr) | |
2 | g.219418884A>C | CA350686048 | DES | c.422A>C (p.Asn141Thr) | |
2 | g.219418884A>G | CA350686050 | DES | c.422A>G (p.Asn141Ser) | |
2 | g.219418884A>T | CA350686053 | DES | c.422A>T (p.Asn141Ile) | |
2 | g.219418885C>A | CA350686055 | DES | c.423C>A (p.Asn141Lys) | gnomAD v4 |
2 | g.219418885C= | CA1329210060 | DES | c.423C= (p.Asn141=) | |
2 | g.219418885C>G | CA350686059 | DES | c.423C>G (p.Asn141Lys) | dbSNP |
2 | g.219418885C>T | CA431427741 | DES | c.423C>T (p.Asn141=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418886C>A | CA431427744 | DES | c.424C>A (p.Arg142=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418886C= | CA1329210061 | DES | c.424C= (p.Arg142=) | |
2 | g.219418886C>G | CA350686062 | DES | c.424C>G (p.Arg142Gly) | gnomAD v4 |
2 | g.219418886C>T | CA350686066 | DES | c.424C>T (p.Arg142Trp) | gnomAD v4 |
2 | g.219418887G>A | CA350686069 | DES | c.425G>A (p.Arg142Gln) | dbSNP gnomAD v4 |
2 | g.219418887G>C | CA350686075 | DES | c.425G>C (p.Arg142Pro) | ClinVar |
2 | g.219418887G= | CA1329210062 | DES | c.425G= (p.Arg142=) | |
2 | g.219418887G>T | CA350686077 | DES | c.425G>T (p.Arg142Leu) | gnomAD v4 |
2 | g.219418888dup | CA2838288701 | DES | c.426dup (p.Leu143AlafsTer29) c.426dup (p.Leu143AlafsTer?) | |
2 | g.219418888G>A | CA431427756 | DES | c.426G>A (p.Arg142=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418888G>C | CA431427757 | DES | c.426G>C (p.Arg142=) | |
2 | g.219418888G= | CA1329210063 | DES | c.426G= (p.Arg142=) | |
2 | g.219418888G>T | CA431427758 | DES | c.426G>T (p.Arg142=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418889C>A | CA350686085 | DES | c.427C>A (p.Leu143Ile) | gnomAD v4 |
2 | g.219418889C= | CA1329210064 | DES | c.427C= (p.Leu143=) | |
2 | g.219418889C>G | CA350686082 | DES | c.427C>G (p.Leu143Val) | ClinVar dbSNP |
2 | g.219418889C>T | CA350686080 | DES | c.427C>T (p.Leu143Phe) | gnomAD v4 |
2 | g.219418890T>A | CA350686087 | DES | c.428T>A (p.Leu143His) | |
2 | g.219418890T>C | CA350686089 | DES | c.428T>C (p.Leu143Pro) | ClinVar dbSNP |
2 | g.219418890T>G | CA350686092 | DES | c.428T>G (p.Leu143Arg) | ClinVar |
2 | g.219418890T= | CA1329210065 | DES | c.428T= (p.Leu143=) | |
2 | g.219418891C>A | CA431427762 | DES | c.429C>A (p.Leu143=) | |
2 | g.219418891C= | CA1329210066 | DES | c.429C= (p.Leu143=) | |
2 | g.219418891C>G | CA431427763 | DES | c.429C>G (p.Leu143=) | |
2 | g.219418891C>T | CA65981248 | DES | c.429C>T (p.Leu143=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418892A= | CA1329210067 | DES | c.430A= (p.Lys144=) | |
2 | g.219418892A>C | CA350686101 | DES | c.430A>C (p.Lys144Gln) | |
2 | g.219418892A>G | CA350686106 | DES | c.430A>G (p.Lys144Glu) | gnomAD v4 |
2 | g.219418892A>T | CA350686110 | DES | c.430A>T (p.Lys144Ter) | dbSNP |
2 | g.219418893A>C | CA350686114 | DES | c.431A>C (p.Lys144Thr) | |
2 | g.219418893A>G | CA350686117 | DES | c.431A>G (p.Lys144Arg) | gnomAD v4 |
2 | g.219418893A>T | CA350686122 | DES | c.431A>T (p.Lys144Met) | |
2 | g.219418895_219418913del | CA2754326441 | DES | c.433_451del (p.Gly145TrpfsTer?) | |
2 | g.219418894G>A | CA431427769 | DES | c.432G>A (p.Lys144=) | gnomAD v4 |
2 | g.219418894G>C | CA350686144 | DES | c.432G>C (p.Lys144Asn) | |
2 | g.219418894G>T | CA350686147 | DES | c.432G>T (p.Lys144Asn) | gnomAD v4 |
2 | g.219418896dup | CA2663250194 | DES | c.434dup (p.Arg146ProfsTer26) c.434dup (p.Arg146ProfsTer?) | gnomAD v4 |
2 | g.219418895G>A | CA350686158 | DES | c.433G>A (p.Gly145Ser) | |
2 | g.219418895G>C | CA350686160 | DES | c.433G>C (p.Gly145Arg) | |
2 | g.219418895G>T | CA350686153 | DES | c.433G>T (p.Gly145Cys) | |
2 | g.219418896G>A | CA350686173 | DES | c.434G>A (p.Gly145Asp) | ClinVar dbSNP gnomAD v4 |
2 | g.219418896G>C | CA350686166 | DES | c.434G>C (p.Gly145Ala) | dbSNP |
2 | g.219418896G= | CA1329210068 | DES | c.434G= (p.Gly145=) | |
2 | g.219418896G>T | CA350686169 | DES | c.434G>T (p.Gly145Val) | |
2 | g.219418897C>A | CA431427776 | DES | c.435C>A (p.Gly145=) | ClinVar |
2 | g.219418897C= | CA1329210069 | DES | c.435C= (p.Gly145=) | |
2 | g.219418897C>G | CA431427777 | DES | c.435C>G (p.Gly145=) | |
2 | g.219418897C>T | CA431427778 | DES | c.435C>T (p.Gly145=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418898C>A | CA350686178 | DES | c.436C>A (p.Arg146Ser) | gnomAD v4 |
2 | g.219418898C>G | CA350686181 | DES | c.436C>G (p.Arg146Gly) | ClinVar gnomAD v4 |
2 | g.219418898C>T | CA350686195 | DES | c.436C>T (p.Arg146Cys) | dbSNP gnomAD v4 COSMIC |
2 | g.219418898_219418899insACTC | CA2843661245 | DES | c.436_437insACTC (p.Arg146HisfsTer27) c.436_437insACTC (p.Arg146HisfsTer?) | |
2 | g.219418898_219418900delinsTGG | CA2586971378 | DES | c.436_438delinsTGG (p.Arg146Trp) | |
2 | g.219418899G>A | CA350686197 | DES | c.437G>A (p.Arg146His) | gnomAD v4 |
2 | g.219418899G>C | CA350686198 | DES | c.437G>C (p.Arg146Pro) | |
2 | g.219418899G>T | CA350686200 | DES | c.437G>T (p.Arg146Leu) | gnomAD v4 |
2 | g.219418900C>A | CA431427788 | DES | c.438C>A (p.Arg146=) | gnomAD v4 |
2 | g.219418900C= | CA1329210070 | DES | c.438C= (p.Arg146=) | |
2 | g.219418900C>G | CA2125067 | DES | c.438C>G (p.Arg146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418900C>T | CA2125068 | DES | c.438C>T (p.Arg146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418901G>A | CA350686210 | DES | c.439G>A (p.Glu147Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418901G>C | CA350686214 | DES | c.439G>C (p.Glu147Gln) | ClinVar gnomAD v4 |
2 | g.219418901G= | CA1329210071 | DES | c.439G= (p.Glu147=) | |
2 | g.219418901G>T | CA350686216 | DES | c.439G>T (p.Glu147Ter) | gnomAD v4 |
2 | g.219418901_219418902insTCGGCTCGCGGCCCTTG | CA2838288696 | DES | c.439_440insTCGGCTCGCGGCCCTTG (p.Glu147ValfsTer?) | |
2 | g.219418902A>C | CA350686226 | DES | c.440A>C (p.Glu147Ala) | |
2 | g.219418902A>G | CA350686220 | DES | c.440A>G (p.Glu147Gly) | |
2 | g.219418902A>T | CA350686223 | DES | c.440A>T (p.Glu147Val) | |
2 | g.219418903G>A | CA431427794 | DES | c.441G>A (p.Glu147=) | dbSNP gnomAD v4 |
2 | g.219418903G>C | CA350686229 | DES | c.441G>C (p.Glu147Asp) | |
2 | g.219418903G= | CA1329210072 | DES | c.441G= (p.Glu147=) | |
2 | g.219418903G>T | CA350686231 | DES | c.441G>T (p.Glu147Asp) | |
2 | g.219418904C>A | CA350686235 | DES | c.442C>A (p.Pro148Thr) | gnomAD v4 |
2 | g.219418904C>G | CA350686238 | DES | c.442C>G (p.Pro148Ala) | |
2 | g.219418904C>T | CA350686241 | DES | c.442C>T (p.Pro148Ser) | gnomAD v4 |
2 | g.219418905C>A | CA350686246 | DES | c.443C>A (p.Pro148Gln) | gnomAD v4 |
2 | g.219418905C= | CA1329210073 | DES | c.443C= (p.Pro148=) | |
2 | g.219418905C>G | CA350686250 | DES | c.443C>G (p.Pro148Arg) | |
2 | g.219418905C>T | CA65981255 | DES | c.443C>T (p.Pro148Leu) | dbSNP gnomAD v4 |
2 | g.219418906G>A | CA431427798 | DES | c.444G>A (p.Pro148=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418906G>C | CA2125069 | DES | c.444G>C (p.Pro148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418906G= | CA1329210074 | DES | c.444G= (p.Pro148=) | |
2 | g.219418906G>T | CA431427800 | DES | c.444G>T (p.Pro148=) | dbSNP gnomAD v4 |
2 | g.219418907A= | CA1329210075 | DES | c.445A= (p.Thr149=) | |
2 | g.219418907A>C | CA350686261 | DES | c.445A>C (p.Thr149Pro) | |
2 | g.219418907A>G | CA350686265 | DES | c.445A>G (p.Thr149Ala) | |
2 | g.219418907A>T | CA350686269 | DES | c.445A>T (p.Thr149Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418908C>A | CA350686281 | DES | c.446C>A (p.Thr149Lys) | |
2 | g.219418908C= | CA1329210076 | DES | c.446C= (p.Thr149=) | |
2 | g.219418908C>G | CA350686276 | DES | c.446C>G (p.Thr149Arg) | ClinVar gnomAD v4 |
2 | g.219418908C>T | CA350686272 | DES | c.446C>T (p.Thr149Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418909G>A | CA431427807 | DES | c.447G>A (p.Thr149=) | ClinVar gnomAD v4 |
2 | g.219418909G>C | CA431427806 | DES | c.447G>C (p.Thr149=) | ClinVar dbSNP |
2 | g.219418909G= | CA1329210077 | DES | c.447G= (p.Thr149=) | |
2 | g.219418909G>T | CA431427805 | DES | c.447G>T (p.Thr149=) | dbSNP gnomAD v4 |
2 | g.219418910C>A | CA431427808 | DES | c.448C>A (p.Arg150=) | gnomAD v4 |
2 | g.219418910C>G | CA350686287 | DES | c.448C>G (p.Arg150Gly) | |
2 | g.219418910C>T | CA350686291 | DES | c.448C>T (p.Arg150Ter) | |
2 | g.219418914_219418921del | CA2499215677 | DES | c.452_459del (p.Val151AlafsTer18) c.452_459del (p.Val151AlafsTer24) | ClinVar dbSNP |
2 | g.219418911G>A | CA10581142 | DES | c.449G>A (p.Arg150Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.219418911G>C | CA350686296 | DES | c.449G>C (p.Arg150Pro) | gnomAD v4 |
2 | g.219418911G= | CA1329210078 | DES | c.449G= (p.Arg150=) | |
2 | g.219418911G>T | CA350686298 | DES | c.449G>T (p.Arg150Leu) | gnomAD v4 |
2 | g.219418912A= | CA1329210079 | DES | c.450A= (p.Arg150=) | |
2 | g.219418912A>C | CA431427814 | DES | c.450A>C (p.Arg150=) | ClinVar dbSNP |
2 | g.219418912A>G | CA431427817 | DES | c.450A>G (p.Arg150=) | dbSNP |
2 | g.219418912A>T | CA431427815 | DES | c.450A>T (p.Arg150=) | |
2 | g.219418913G>A | CA350686307 | DES | c.451G>A (p.Val151Met) | gnomAD v4 |
2 | g.219418913G>C | CA350686303 | DES | c.451G>C (p.Val151Leu) | |
2 | g.219418913G>T | CA350686300 | DES | c.451G>T (p.Val151Leu) | |
2 | g.219418914T>A | CA350686313 | DES | c.452T>A (p.Val151Glu) | |
2 | g.219418914T>C | CA350686316 | DES | c.452T>C (p.Val151Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418914T>G | CA350686321 | DES | c.452T>G (p.Val151Gly) | |
2 | g.219418914T= | CA1329210080 | DES | c.452T= (p.Val151=) | |
2 | g.219418915G>A | CA431427820 | DES | c.453G>A (p.Val151=) | gnomAD v4 |
2 | g.219418915G>C | CA431427821 | DES | c.453G>C (p.Val151=) | dbSNP |
2 | g.219418915G= | CA1329210081 | DES | c.453G= (p.Val151=) | |
2 | g.219418915G>T | CA431427823 | DES | c.453G>T (p.Val151=) | dbSNP gnomAD v4 |
2 | g.219418916G>A | CA350686326 | DES | c.454G>A (p.Ala152Thr) | |
2 | g.219418916G>C | CA350686330 | DES | c.454G>C (p.Ala152Pro) | |
2 | g.219418916G>T | CA350686334 | DES | c.454G>T (p.Ala152Ser) | |
2 | g.219418917C>A | CA350686338 | DES | c.455C>A (p.Ala152Asp) | |
2 | g.219418917C>G | CA350686348 | DES | c.455C>G (p.Ala152Gly) | |
2 | g.219418917C>T | CA350686345 | DES | c.455C>T (p.Ala152Val) | gnomAD v4 |
2 | g.219418918C>A | CA431427826 | DES | c.456C>A (p.Ala152=) | gnomAD v4 |
2 | g.219418918C= | CA1329210082 | DES | c.456C= (p.Ala152=) | |
2 | g.219418918C>G | CA431427827 | DES | c.456C>G (p.Ala152=) | ClinVar gnomAD v4 |
2 | g.219418918C>T | CA431427828 | DES | c.456C>T (p.Ala152=) | ClinVar dbSNP gnomAD v4 |
2 | g.219418919G>A | CA350686355 | DES | c.457G>A (p.Glu153Lys) | dbSNP gnomAD v4 |
2 | g.219418919G>C | CA350686358 | DES | c.457G>C (p.Glu153Gln) | |
2 | g.219418919G= | CA1329210083 | DES | c.457G= (p.Glu153=) | |
2 | g.219418919G>T | CA350686363 | DES | c.457G>T (p.Glu153Ter) | gnomAD v4 |
2 | g.219418920A>C | CA350686367 | DES | c.458A>C (p.Glu153Ala) | |
2 | g.219418920A>G | CA350686370 | DES | c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
2 | g.219418920A>T | CA350686373 | DES | c.458A>T (p.Glu153Val) | |
2 | g.219418921G>A | CA431427834 | DES | c.459G>A (p.Glu153=) | |
2 | g.219418921G>C | CA350686378 | DES | c.459G>C (p.Glu153Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418921G= | CA1329210084 | DES | c.459G= (p.Glu153=) | |
2 | g.219418921G>T | CA350686382 | DES | c.459G>T (p.Glu153Asp) | gnomAD v4 COSMIC |
2 | g.219418922C>A | CA2125070 | DES | c.460C>A (p.Leu154Ile) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.219418922C= | CA1329210085 | DES | c.460C= (p.Leu154=) | |
2 | g.219418922C>G | CA350686390 | DES | c.460C>G (p.Leu154Val) | |
2 | g.219418922C>T | CA350686394 | DES | c.460C>T (p.Leu154Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418923T>A | CA2125071 | DES | c.461T>A (p.Leu154His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418923T>C | CA350686407 | DES | c.461T>C (p.Leu154Pro) | ClinVar gnomAD v4 |
2 | g.219418923T>G | CA350686402 | DES | c.461T>G (p.Leu154Arg) | |
2 | g.219418923T= | CA1329210086 | DES | c.461T= (p.Leu154=) | |
2 | g.219418924C>A | CA431427841 | DES | c.462C>A (p.Leu154=) | gnomAD v4 |
2 | g.219418924C= | CA1329210087 | DES | c.462C= (p.Leu154=) | |
2 | g.219418924C>G | CA431427842 | DES | c.462C>G (p.Leu154=) | gnomAD v4 |
2 | g.219418924C>T | CA431427843 | DES | c.462C>T (p.Leu154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418925T>A | CA350686415 | DES | c.463T>A (p.Tyr155Asn) | |
2 | g.219418925T>C | CA350686422 | DES | c.463T>C (p.Tyr155His) | |
2 | g.219418925T>G | CA350686418 | DES | c.463T>G (p.Tyr155Asp) | |
2 | g.219418926A>C | CA350686426 | DES | c.464A>C (p.Tyr155Ser) | |
2 | g.219418926A>G | CA350686435 | DES | c.464A>G (p.Tyr155Cys) | |
2 | g.219418926A>T | CA350686429 | DES | c.464A>T (p.Tyr155Phe) | |
2 | g.219418927C>A | CA350686441 | DES | c.465C>A (p.Tyr155Ter) | dbSNP gnomAD v4 |
2 | g.219418927C= | CA1329210088 | DES | c.465C= (p.Tyr155=) | |
2 | g.219418927C>G | CA350686447 | DES | c.465C>G (p.Tyr155Ter) | |
2 | g.219418927C>T | CA431427848 | DES | c.465C>T (p.Tyr155=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418927_219418930delinsCGAG | CA1329210089 | DES | c.465_468delinsCGAG (p.Tyr155=) | |
2 | g.219418928G>A | CA2125072 | DES | c.466G>A (p.Glu156Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.219418928G>C | CA350686456 | DES | c.466G>C (p.Glu156Gln) | ClinVar dbSNP |
2 | g.219418928G= | CA1329210091 | DES | c.466G= (p.Glu156=) | |
2 | g.219418928G>T | CA350686459 | DES | c.466G>T (p.Glu156Ter) | |
2 | g.219418934_219418936del | CA1329210090 | DES | c.472_474del (p.Glu158del) | ClinVar dbSNP |
2 | g.219418929A>C | CA350686464 | DES | c.467A>C (p.Glu156Ala) | |
2 | g.219418929A>G | CA350686471 | DES | c.467A>G (p.Glu156Gly) | gnomAD v4 |
2 | g.219418929A>T | CA350686474 | DES | c.467A>T (p.Glu156Val) | ClinVar dbSNP |
2 | g.219418930G>A | CA431427851 | DES | c.468G>A (p.Glu156=) | |
2 | g.219418930G>C | CA350686481 | DES | c.468G>C (p.Glu156Asp) | |
2 | g.219418930G>T | CA350686482 | DES | c.468G>T (p.Glu156Asp) | |
2 | g.219418931G>A | CA350686483 | DES | c.469G>A (p.Glu157Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418931G>C | CA350686485 | DES | c.469G>C (p.Glu157Gln) | |
2 | g.219418931G= | CA1329210092 | DES | c.469G= (p.Glu157=) | |
2 | g.219418931G>T | CA350686490 | DES | c.469G>T (p.Glu157Ter) | |
2 | g.219418932A>C | CA350686504 | DES | c.470A>C (p.Glu157Ala) | |
2 | g.219418932A>G | CA350686502 | DES | c.470A>G (p.Glu157Gly) | |
2 | g.219418932A>T | CA350686497 | DES | c.470A>T (p.Glu157Val) | |
2 | g.219418933G>A | CA431427856 | DES | c.471G>A (p.Glu157=) | |
2 | g.219418933G>C | CA350686507 | DES | c.471G>C (p.Glu157Asp) | |
2 | g.219418933G>T | CA350686510 | DES | c.471G>T (p.Glu157Asp) | |
2 | g.219418943_219418951dup | CA2577252530 | DES | c.481_489dup (p.Arg163_Arg164insGluLeuArg) | ClinVar |
2 | g.219418934G>A | CA350686516 | DES | c.472G>A (p.Glu158Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418934G>C | CA350686517 | DES | c.472G>C (p.Glu158Gln) | |
2 | g.219418934G= | CA1329210093 | DES | c.472G= (p.Glu158=) | |
2 | g.219418934G>T | CA350686524 | DES | c.472G>T (p.Glu158Ter) | |
2 | g.219418935A= | CA1329210094 | DES | c.473A= (p.Glu158=) | |
2 | g.219418935A>C | CA350686530 | DES | c.473A>C (p.Glu158Ala) | |
2 | g.219418935A>G | CA350686535 | DES | c.473A>G (p.Glu158Gly) | gnomAD v4 |
2 | g.219418935A>T | CA350686538 | DES | c.473A>T (p.Glu158Val) | ClinVar dbSNP |
2 | g.219418936G>A | CA431427858 | DES | c.474G>A (p.Glu158=) | gnomAD v4 |
2 | g.219418936G>C | CA350686540 | DES | c.474G>C (p.Glu158Asp) | |
2 | g.219418936G>T | CA350686543 | DES | c.474G>T (p.Glu158Asp) | gnomAD v4 |
2 | g.219418937C>A | CA350686545 | DES | c.475C>A (p.Leu159Met) | dbSNP gnomAD v4 |
2 | g.219418937C= | CA1329210095 | DES | c.475C= (p.Leu159=) | |
2 | g.219418937C>G | CA350686549 | DES | c.475C>G (p.Leu159Val) | |
2 | g.219418937C>T | CA431427860 | DES | c.475C>T (p.Leu159=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418938T>A | CA350686554 | DES | c.476T>A (p.Leu159Gln) | |
2 | g.219418938T>C | CA350686551 | DES | c.476T>C (p.Leu159Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.219418938T>G | CA350686550 | DES | c.476T>G (p.Leu159Arg) | |
2 | g.219418938T= | CA1329210096 | DES | c.476T= (p.Leu159=) | |
2 | g.219418939G>A | CA431427865 | DES | c.477G>A (p.Leu159=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418939G>C | CA431427866 | DES | c.477G>C (p.Leu159=) | |
2 | g.219418939G= | CA1329210097 | DES | c.477G= (p.Leu159=) | |
2 | g.219418939G>T | CA431427867 | DES | c.477G>T (p.Leu159=) | gnomAD v4 |
2 | g.219418940C>A | CA431427868 | DES | c.478C>A (p.Arg160=) | gnomAD v4 |
2 | g.219418940C= | CA1329210098 | DES | c.478C= (p.Arg160=) | |
2 | g.219418940C>G | CA350686556 | DES | c.478C>G (p.Arg160Gly) | |
2 | g.219418940C>T | CA350686558 | DES | c.478C>T (p.Arg160Trp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418941G>A | CA350686563 | DES | c.479G>A (p.Arg160Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418941G>C | CA350686566 | DES | c.479G>C (p.Arg160Pro) | gnomAD v4 |
2 | g.219418941G= | CA1329210099 | DES | c.479G= (p.Arg160=) | |
2 | g.219418941G>T | CA350686567 | DES | c.479G>T (p.Arg160Leu) | |
2 | g.219418942G>A | CA431427877 | DES | c.480G>A (p.Arg160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418942G>C | CA431427875 | DES | c.480G>C (p.Arg160=) | ClinVar dbSNP |
2 | g.219418942G= | CA1329210100 | DES | c.480G= (p.Arg160=) | |
2 | g.219418942G>T | CA431427876 | DES | c.480G>T (p.Arg160=) | gnomAD v4 |
2 | g.219418943G>A | CA350686570 | DES | c.481G>A (p.Glu161Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418943G>C | CA350686571 | DES | c.481G>C (p.Glu161Gln) | |
2 | g.219418943G= | CA1329210101 | DES | c.481G= (p.Glu161=) | |
2 | g.219418943G>T | CA350686573 | DES | c.481G>T (p.Glu161Ter) | gnomAD v4 |
2 | g.219418944A= | CA1329210102 | DES | c.482A= (p.Glu161=) | |
2 | g.219418944A>C | CA350686574 | DES | c.482A>C (p.Glu161Ala) | gnomAD v4 |
2 | g.219418944A>G | CA350686579 | DES | c.482A>G (p.Glu161Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418944A>T | CA350686581 | DES | c.482A>T (p.Glu161Val) | |
2 | g.219418944_219418952dup | CA2580065786 | DES | c.482_490dup (p.Arg163_Arg164insGlnLeuArg) | ClinVar |
2 | g.219418945G>A | CA431427879 | DES | c.483G>A (p.Glu161=) | |
2 | g.219418945G>C | CA350686583 | DES | c.483G>C (p.Glu161Asp) | ClinVar |
2 | g.219418945G>T | CA350686585 | DES | c.483G>T (p.Glu161Asp) | gnomAD v4 |
2 | g.219418946C>A | CA350686589 | DES | c.484C>A (p.Leu162Met) | gnomAD v4 |
2 | g.219418946C= | CA1329210103 | DES | c.484C= (p.Leu162=) | |
2 | g.219418946C>G | CA350686591 | DES | c.484C>G (p.Leu162Val) | |
2 | g.219418946C>T | CA431427883 | DES | c.484C>T (p.Leu162=) | gnomAD v4 |
2 | g.219418947T>A | CA350686594 | DES | c.485T>A (p.Leu162Gln) | |
2 | g.219418947T>C | CA350686595 | DES | c.485T>C (p.Leu162Pro) | gnomAD v4 |
2 | g.219418947T>G | CA350686598 | DES | c.485T>G (p.Leu162Arg) | dbSNP |
2 | g.219418947T= | CA1329210104 | DES | c.485T= (p.Leu162=) | |
2 | g.219418950_219418967dup | CA916081390 | DES | c.488_505dup (p.Val168_Leu169insArgArgGlnValGluVal) c.488_495+10dup | ClinVar dbSNP |
2 | g.219418948G>A | CA431427886 | DES | c.486G>A (p.Leu162=) | |
2 | g.219418948G>C | CA431427884 | DES | c.486G>C (p.Leu162=) | |
2 | g.219418948G>T | CA431427885 | DES | c.486G>T (p.Leu162=) | gnomAD v4 |
2 | g.219418949C>A | CA431427887 | DES | c.487C>A (p.Arg163=) | gnomAD v4 |
2 | g.219418949C>G | CA350686602 | DES | c.487C>G (p.Arg163Gly) | |
2 | g.219418949C>T | CA350686603 | DES | c.487C>T (p.Arg163Trp) | gnomAD v4 |
2 | g.219418950G>A | CA350686609 | DES | c.488G>A (p.Arg163Gln) | ClinVar dbSNP |
2 | g.219418950G>C | CA350686610 | DES | c.488G>C (p.Arg163Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418950G= | CA1329210105 | DES | c.488G= (p.Arg163=) | |
2 | g.219418950G>T | CA350686614 | DES | c.488G>T (p.Arg163Leu) | gnomAD v4 |
2 | g.219418951G>A | CA431427890 | DES | c.489G>A (p.Arg163=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418951G>C | CA431427891 | DES | c.489G>C (p.Arg163=) | |
2 | g.219418951G= | CA1329210106 | DES | c.489G= (p.Arg163=) | |
2 | g.219418951G>T | CA431427892 | DES | c.489G>T (p.Arg163=) | |
2 | g.219418952C>A | CA350686616 | DES | c.490C>A (p.Arg164Ser) | ClinVar gnomAD v4 |
2 | g.219418952C>G | CA350686619 | DES | c.490C>G (p.Arg164Gly) | |
2 | g.219418952C>T | CA350686622 | DES | c.490C>T (p.Arg164Cys) | gnomAD v4 |
2 | g.219418953G>A | CA350686630 | DES | c.491G>A (p.Arg164His) | dbSNP gnomAD v4 |
2 | g.219418953G>C | CA350686627 | DES | c.491G>C (p.Arg164Pro) | |
2 | g.219418953G= | CA1329210107 | DES | c.491G= (p.Arg164=) | |
2 | g.219418953G>T | CA350686626 | DES | c.491G>T (p.Arg164Leu) | gnomAD v4 |
2 | g.219418954C>A | CA431427893 | DES | c.492C>A (p.Arg164=) | gnomAD v4 |
2 | g.219418954C= | CA1329210108 | DES | c.492C= (p.Arg164=) | |
2 | g.219418954C>G | CA431427894 | DES | c.492C>G (p.Arg164=) | |
2 | g.219418954C>T | CA431427895 | DES | c.492C>T (p.Arg164=) | dbSNP gnomAD v2 |
2 | g.219418954_219418982delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | CA1329210109 | DES | c.492_520delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG (p.Arg164=) c.492_495+25delinsCCAGGTGGAGGTGCTCACTAACCAGCGCG | |
2 | g.219418955C>A | CA350686632 | DES | c.493C>A (p.Gln165Lys) | |
2 | g.219418955C>G | CA350686644 | DES | c.493C>G (p.Gln165Glu) | |
2 | g.219418955C>T | CA350686641 | DES | c.493C>T (p.Gln165Ter) | gnomAD v4 |
2 | g.219418955_219418982delinsGCGT | CA645369281 | DES | c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) c.493_495+25delinsGCGT | ClinVar dbSNP |
2 | g.219418956A= | CA1329210110 | DES | c.494A= (p.Gln165=) | |
2 | g.219418956A>C | CA350686646 | DES | c.494A>C (p.Gln165Pro) | |
2 | g.219418956A>G | CA350686649 | DES | c.494A>G (p.Gln165Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418956A>T | CA350686652 | DES | c.494A>T (p.Gln165Leu) | |
2 | g.219418957G>A | CA431427897 | DES | c.495G>A (p.Gln165=) | gnomAD v4 |
2 | g.219418957G>C | CA350686655 | DES | c.495G>C (p.Gln165His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418957G= | CA1329210111 | DES | c.495G= (p.Gln165=) | |
2 | g.219418957G>T | CA350686657 | DES | c.495G>T (p.Gln165His) | gnomAD v4 |
2 | g.219418958G>A | CA350686662 | DES | c.496G>A (p.Val166Met) c.495+1G>A (n.495+1G>A) | |
2 | g.219418958G>C | CA350686664 | DES | c.496G>C (p.Val166Leu) c.495+1G>C (n.495+1G>C) | |
2 | g.219418958G>T | CA350686669 | DES | c.496G>T (p.Val166Leu) c.495+1G>T (n.495+1G>T) | gnomAD v4 |
2 | g.219418959T>A | CA350686672 | DES | c.497T>A (p.Val166Glu) c.495+2T>A (n.495+2T>A) | |
2 | g.219418959T>C | CA350686675 | DES | c.497T>C (p.Val166Ala) c.495+2T>C (n.495+2T>C) | |
2 | g.219418959T>G | CA350686679 | DES | c.497T>G (p.Val166Gly) c.495+2T>G (n.495+2T>G) | gnomAD v4 |
2 | g.219418960G>A | CA431427901 | DES | c.498G>A (p.Val166=) c.495+3G>A (n.495+3G>A) | |
2 | g.219418960G>C | CA431427902 | DES | c.498G>C (p.Val166=) c.495+3G>C (n.495+3G>C) | |
2 | g.219418960G>T | CA431427903 | DES | c.498G>T (p.Val166=) c.495+3G>T (n.495+3G>T) | |
2 | g.219418961G>A | CA350686688 | DES | c.499G>A (p.Glu167Lys) c.495+4G>A (n.495+4G>A) | gnomAD v4 |
2 | g.219418961G>C | CA350686685 | DES | c.499G>C (p.Glu167Gln) c.495+4G>C (n.495+4G>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219418961G= | CA1329210112 | DES | c.499G= (p.Glu167=) c.495+4G= (n.495+4G=) | |
2 | g.219418961G>T | CA350686682 | DES | c.499G>T (p.Glu167Ter) c.495+4G>T (n.495+4G>T) | |
2 | g.219418962A= | CA1329210113 | DES | c.500A= (p.Glu167=) c.495+5A= (n.495+5A=) | |
2 | g.219418962A>C | CA350686691 | DES | c.500A>C (p.Glu167Ala) c.495+5A>C (n.495+5A>C) | |
2 | g.219418962A>G | CA350686692 | DES | c.500A>G (p.Glu167Gly) c.495+5A>G (n.495+5A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.219418962A>T | CA350686694 | DES | c.500A>T (p.Glu167Val) c.495+5A>T (n.495+5A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.219418963G>A | CA431427907 | DES | c.501G>A (p.Glu167=) c.495+6G>A (n.495+6G>A) | |
2 | g.219418963G>C | CA350686698 | DES | c.501G>C (p.Glu167Asp) c.495+6G>C (n.495+6G>C) | |
2 | g.219418963G= | CA1329210114 | DES | c.501G= (p.Glu167=) c.495+6G= (n.495+6G=) | |
2 | g.219418963G>T | CA350686701 | DES | c.501G>T (p.Glu167Asp) c.495+6G>T (n.495+6G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418964G>A | CA350686705 | DES | c.502G>A (p.Val168Met) c.495+7G>A (n.495+7G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418964G>C | CA350686708 | DES | c.502G>C (p.Val168Leu) c.495+7G>C (n.495+7G>C) | |
2 | g.219418964G= | CA1329210115 | DES | c.502G= (p.Val168=) c.495+7G= (n.495+7G=) | |
2 | g.219418964G>T | CA350686710 | DES | c.502G>T (p.Val168Leu) c.495+7G>T (n.495+7G>T) | |
2 | g.219418965T>A | CA350686715 | DES | c.503T>A (p.Val168Glu) c.495+8T>A (n.495+8T>A) | |
2 | g.219418965T>C | CA350686718 | DES | c.503T>C (p.Val168Ala) c.495+8T>C (n.495+8T>C) | |
2 | g.219418965T>G | CA350686719 | DES | c.503T>G (p.Val168Gly) c.495+8T>G (n.495+8T>G) | |
2 | g.219418966G>A | CA431427909 | DES | c.504G>A (p.Val168=) c.495+9G>A (n.495+9G>A) | gnomAD v4 |
2 | g.219418966G>C | CA431427910 | DES | c.504G>C (p.Val168=) c.495+9G>C (n.495+9G>C) | dbSNP |
2 | g.219418966G= | CA1329210116 | DES | c.504G= (p.Val168=) c.495+9G= (n.495+9G=) | |
2 | g.219418966G>T | CA431427911 | DES | c.504G>T (p.Val168=) c.495+9G>T (n.495+9G>T) | |
2 | g.219418967C>A | CA350686727 | DES | c.505C>A (p.Leu169Ile) c.495+10C>A (n.495+10C>A) | gnomAD v4 |
2 | g.219418967C= | CA1329210117 | DES | c.505C= (p.Leu169=) c.495+10C= (n.495+10C=) | |
2 | g.219418967C>G | CA350686726 | DES | c.505C>G (p.Leu169Val) c.495+10C>G (n.495+10C>G) | |
2 | g.219418967C>T | CA350686724 | DES | c.505C>T (p.Leu169Phe) c.495+10C>T (n.495+10C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418968T>A | CA350686729 | DES | c.506T>A (p.Leu169His) c.495+11T>A (n.495+11T>A) | |
2 | g.219418968T>C | CA350686732 | DES | c.506T>C (p.Leu169Pro) c.495+11T>C (n.495+11T>C) | gnomAD v4 |
2 | g.219418968T>G | CA350686735 | DES | c.506T>G (p.Leu169Arg) c.495+11T>G (n.495+11T>G) | |
2 | g.219418969C>A | CA431427915 | DES | c.507C>A (p.Leu169=) c.495+12C>A (n.495+12C>A) | |
2 | g.219418969C>G | CA431427913 | DES | c.507C>G (p.Leu169=) c.495+12C>G (n.495+12C>G) | |
2 | g.219418969C>T | CA431427914 | DES | c.507C>T (p.Leu169=) c.495+12C>T (n.495+12C>T) | gnomAD v4 |
2 | g.219418970A>C | CA350686739 | DES | c.508A>C (p.Thr170Pro) c.495+13A>C (n.495+13A>C) | |
2 | g.219418970A>G | CA350686742 | DES | c.508A>G (p.Thr170Ala) c.495+13A>G (n.495+13A>G) | gnomAD v4 |
2 | g.219418970A>T | CA350686744 | DES | c.508A>T (p.Thr170Ser) c.495+13A>T (n.495+13A>T) | |
2 | g.219418971del | CA2663250410 | DES | c.509del (p.Thr170IlefsTer?) c.495+14del (n.495+14del) | gnomAD v4 |
2 | g.219418971C>A | CA350686748 | DES | c.509C>A (p.Thr170Asn) c.495+14C>A (n.495+14C>A) | gnomAD v4 |
2 | g.219418971C= | CA1329210118 | DES | c.509C= (p.Thr170=) c.495+14C= (n.495+14C=) | |
2 | g.219418971C>G | CA350686751 | DES | c.509C>G (p.Thr170Ser) c.495+14C>G (n.495+14C>G) | |
2 | g.219418971C>T | CA350686754 | DES | c.509C>T (p.Thr170Ile) c.495+14C>T (n.495+14C>T) | dbSNP gnomAD v4 |
2 | g.219418972T>A | CA431427916 | DES | c.510T>A (p.Thr170=) c.495+15T>A (n.495+15T>A) | |
2 | g.219418972T>C | CA431427917 | DES | c.510T>C (p.Thr170=) c.495+15T>C (n.495+15T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.219418972T>G | CA431427918 | DES | c.510T>G (p.Thr170=) c.495+15T>G (n.495+15T>G) | |
2 | g.219418972T= | CA1329210119 | DES | c.510T= (p.Thr170=) c.495+15T= (n.495+15T=) | |
2 | g.219418973A>C | CA350686757 | DES | c.511A>C (p.Asn171His) c.495+16A>C (n.495+16A>C) | |
2 | g.219418973A>G | CA350686758 | DES | c.511A>G (p.Asn171Asp) c.495+16A>G (n.495+16A>G) | gnomAD v4 |
2 | g.219418973A>T | CA350686760 | DES | c.511A>T (p.Asn171Tyr) c.495+16A>T (n.495+16A>T) | gnomAD v4 |
2 | g.219418974A>C | CA350686771 | DES | c.512A>C (p.Asn171Thr) c.495+17A>C (n.495+17A>C) | ClinVar |
2 | g.219418974A>G | CA350686768 | DES | c.512A>G (p.Asn171Ser) c.495+17A>G (n.495+17A>G) | gnomAD v4 |
2 | g.219418974A>T | CA350686764 | DES | c.512A>T (p.Asn171Ile) c.495+17A>T (n.495+17A>T) | |
2 | g.219418975C>A | CA350686774 | DES | c.513C>A (p.Asn171Lys) c.495+18C>A (n.495+18C>A) | gnomAD v4 |
2 | g.219418975C>G | CA350686776 | DES | c.513C>G (p.Asn171Lys) c.495+18C>G (n.495+18C>G) | |
2 | g.219418975C>T | CA431427919 | DES | c.513C>T (p.Asn171=) c.495+18C>T (n.495+18C>T) | |
2 | g.219418976del | CA2663250414 | DES | c.514del (p.Gln172SerfsTer29) c.495+19del (n.495+19del) | gnomAD v4 |
2 | g.219418976C>A | CA350686780 | DES | c.514C>A (p.Gln172Lys) c.495+19C>A (n.495+19C>A) | gnomAD v4 |
2 | g.219418976C= | CA1329210121 | DES | c.514C= (p.Gln172=) c.495+19C= (n.495+19C=) | |
2 | g.219418976C>G | CA350686783 | DES | c.514C>G (p.Gln172Glu) c.495+19C>G (n.495+19C>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418976C>T | CA350686786 | DES | c.514C>T (p.Gln172Ter) c.495+19C>T (n.495+19C>T) | ClinVar dbSNP |
2 | g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG | CA1329210120 | DES | c.514_535delinsCAGCGCGCGCGCGTCGACGTCG (p.Gln172=) c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG (n.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG) | |
2 | g.219418977A>C | CA350686790 | DES | c.515A>C (p.Gln172Pro) c.495+20A>C (n.495+20A>C) | ClinVar dbSNP |
2 | g.219418977A>G | CA350686793 | DES | c.515A>G (p.Gln172Arg) c.495+20A>G (n.495+20A>G) | gnomAD v4 |
2 | g.219418977A>T | CA350686796 | DES | c.515A>T (p.Gln172Leu) c.495+20A>T (n.495+20A>T) | ClinVar gnomAD v4 |
2 | g.219418977_219418979delinsAGC | CA1329210122 | DES | c.515_517delinsAGC (p.Gln172=) c.495+20_495+22delinsAGC (n.495+20_495+22delinsAGC) | |
2 | g.219418983_219419003del | CA217075 | DES | c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del) | ClinVar dbSNP |
2 | g.219418978G>A | CA65981284 | DES | c.516G>A (p.Gln172=) c.495+21G>A (n.495+21G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.219418978G>C | CA350686804 | DES | c.516G>C (p.Gln172His) c.495+21G>C (n.495+21G>C) | gnomAD v4 |
2 | g.219418978G= | CA1329210123 | DES | c.516G= (p.Gln172=) c.495+21G= (n.495+21G=) | |
2 | g.219418978G>T | CA350686815 | DES | c.516G>T (p.Gln172His) c.495+21G>T (n.495+21G>T) | COSMIC |
2 | g.219418987_219418988dup | CA2580616703 | DES | c.525_526dup (p.Val176AlafsTer26) c.495+30_495+31dup (n.495+30_495+31dup) | ClinVar |
2 | g.219418987_219418988del | CA2125073 | DES | c.525_526del (p.Val176ArgfsTer?) c.495+30_495+31del (n.495+30_495+31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.219418979C>A | CA2125074 | DES | c.517C>A (p.Arg173Ser) c.495+22C>A (n.495+22C>A) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.219418979C= | CA1329210124 | DES | c.517C= (p.Arg173=) c.495+22C= (n.495+22C=) | |
2 | g.219418979C>G | CA350686826 | DES | c.517C>G (p.Arg173Gly) c.495+22C>G (n.495+22C>G) | ClinVar |
2 | g.219418979C>T | CA350686823 | DES | c.517C>T (p.Arg173Cys) c.495+22C>T (n.495+22C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>A | CA65981288 | DES | c.518G>A (p.Arg173His) c.495+23G>A (n.495+23G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.219418980G>C | CA350686829 | DES | c.518G>C (p.Arg173Pro) c.495+23G>C (n.495+23G>C) | |
2 | g.219418980G= | CA1329210125 | DES | c.518G= (p.Arg173=) c.495+23G= (n.495+23G=) | |
2 | g.219418980G>T | CA350686832 | DES | c.518G>T (p.Arg173Leu) c.495+23G>T (n.495+23G>T) | gnomAD v4 |
2 | g.219418985_219419003del | CA2663250435 | DES | c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del) | gnomAD v4 |
2 | g.219418981C>A | CA431427925 | DES | c.519C>A (p.Arg173=) c.495+24C>A (n.495+24C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.219418981C= | CA1329210126 | DES | c.519C= (p.Arg173=) c.495+24C= (n.495+24C=) | |
2 | g.219418981C>G | CA2125075 | DES | c.519C>G (p.Arg173=) c.495+24C>G (n.495+24C>G) | dbSNP ExAC gnomAD v2 |
2 | g.219418981C>T | CA431427927 | DES | c.519C>T (p.Arg173=) c.495+24C>T (n.495+24C>T) | gnomAD v4 |
2 | g.219418982G>A | CA350686838 | DES | c.520G>A (p.Ala174Thr) c.495+25G>A (n.495+25G>A) | ClinVar gnomAD v4 |
2 | g.219418982G>C | CA2125076 | DES | c.520G>C (p.Ala174Pro) c.495+25G>C (n.495+25G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.219418982G= | CA1329210127 | DES | c.520G= (p.Ala174=) c.495+25G= (n.495+25G=) | |
2 | g.219418982G>T | CA350686842 | DES | c.520G>T (p.Ala174Ser) c.495+25G>T (n.495+25G>T) | gnomAD v4 |