17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80107583T>A | CA401363117 | GAA | c.719T>A (p.Phe240Tyr)
| |
17 | g.80107583T>C | CA401363119 | GAA | c.719T>C (p.Phe240Ser)
| |
17 | g.80107583T>G | CA401363121 | GAA | c.719T>G (p.Phe240Cys)
| |
17 | g.80107584C>A | CA401363123 | GAA | c.720C>A (p.Phe240Leu)
| |
17 | g.80107584C= | CA2277812240 | GAA | c.720C= (p.Phe240=)
| |
17 | g.80107584C>G | CA401363125 | GAA | c.720C>G (p.Phe240Leu)
| |
17 | g.80107584C>T | CA502402331 | GAA | c.720C>T (p.Phe240=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107584_80107586delinsCTT | CA2277812241 | GAA | c.720_722delinsCTT (p.Phe240=)
| |
17 | g.80107585T>A | CA401363128 | GAA | c.721T>A (p.Phe241Ile)
| |
17 | g.80107585T>C | CA401363131 | GAA | c.721T>C (p.Phe241Leu)
| |
17 | g.80107585T>G | CA401363134 | GAA | c.721T>G (p.Phe241Val)
| |
17 | g.80107586_80107587del | CA658795235 | GAA | c.722_723del (p.Phe241CysfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107586T>A | CA401363140 | GAA | c.722T>A (p.Phe241Tyr)
| |
17 | g.80107586T>C | CA401363142 | GAA | c.722T>C (p.Phe241Ser)
| |
17 | g.80107586T>G | CA401363136 | GAA | c.722T>G (p.Phe241Cys)
| |
17 | g.80107587T>A | CA401363147 | GAA | c.723T>A (p.Phe241Leu)
| |
17 | g.80107587T>C | CA502402338 | GAA | c.723T>C (p.Phe241=)
| ClinVar gnomAD v4 |
17 | g.80107587T>G | CA401363149 | GAA | c.723T>G (p.Phe241Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107587T= | CA2277812242 | GAA | c.723T= (p.Phe241=)
| |
17 | g.80107588G>A | CA401363151 | GAA | c.724G>A (p.Ala242Thr)
| gnomAD v4 |
17 | g.80107588G>C | CA401363154 | GAA | c.724G>C (p.Ala242Pro)
| |
17 | g.80107588G>T | CA401363159 | GAA | c.724G>T (p.Ala242Ser)
| |
17 | g.80107589C>A | CA8815003 | GAA | c.725C>A (p.Ala242Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107589C= | CA2277812243 | GAA | c.725C= (p.Ala242=)
| |
17 | g.80107589C>G | CA401363162 | GAA | c.725C>G (p.Ala242Gly)
| |
17 | g.80107589C>T | CA8815002 | GAA | c.725C>T (p.Ala242Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107590G>A | CA8815004 | GAA | c.726G>A (p.Ala242=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107590G>C | CA502402349 | GAA | c.726G>C (p.Ala242=)
| ClinVar dbSNP |
17 | g.80107590G= | CA2277812244 | GAA | c.726G= (p.Ala242=)
| |
17 | g.80107590G>T | CA502402350 | GAA | c.726G>T (p.Ala242=)
| |
17 | g.80107591G>A | CA401363168 | GAA | c.727G>A (p.Asp243Asn)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107591G>C | CA401363170 | GAA | c.727G>C (p.Asp243His)
| |
17 | g.80107591G= | CA2277812245 | GAA | c.727G= (p.Asp243=)
| |
17 | g.80107591G>T | CA401363171 | GAA | c.727G>T (p.Asp243Tyr)
| |
17 | g.80107591_80107592insCCACCAGGACA | CA2739268462 | GAA | c.727_728insCCACCAGGACA (p.Asp243AlafsTer29)
| ClinVar |
17 | g.80107592A>C | CA401363176 | GAA | c.728A>C (p.Asp243Ala)
| |
17 | g.80107592A>G | CA401363179 | GAA | c.728A>G (p.Asp243Gly)
| |
17 | g.80107592A>T | CA401363174 | GAA | c.728A>T (p.Asp243Val)
| |
17 | g.80107593C>A | CA401363182 | GAA | c.729C>A (p.Asp243Glu)
| COSMIC |
17 | g.80107593C>G | CA401363185 | GAA | c.729C>G (p.Asp243Glu)
| gnomAD v4 |
17 | g.80107593C>T | CA502402354 | GAA | c.729C>T (p.Asp243=)
| ClinVar gnomAD v4 |
17 | g.80107594C>A | CA401363189 | GAA | c.730C>A (p.Gln244Lys)
| |
17 | g.80107594C>G | CA401363191 | GAA | c.730C>G (p.Gln244Glu)
| |
17 | g.80107594C>T | CA401363194 | GAA | c.730C>T (p.Gln244Ter)
| |
17 | g.80107595A>C | CA401363202 | GAA | c.731A>C (p.Gln244Pro)
| |
17 | g.80107595A>G | CA401363198 | GAA | c.731A>G (p.Gln244Arg)
| |
17 | g.80107595A>T | CA401363201 | GAA | c.731A>T (p.Gln244Leu)
| |
17 | g.80107596G>A | CA502402358 | GAA | c.732G>A (p.Gln244=)
| |
17 | g.80107596G>C | CA401363204 | GAA | c.732G>C (p.Gln244His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107596G= | CA2277812246 | GAA | c.732G= (p.Gln244=)
| |
17 | g.80107596G>T | CA401363206 | GAA | c.732G>T (p.Gln244His)
| |
17 | g.80107597T>A | CA401363207 | GAA | c.733T>A (p.Phe245Ile)
| |
17 | g.80107597T>C | CA401363209 | GAA | c.733T>C (p.Phe245Leu)
| |
17 | g.80107597T>G | CA294889597 | GAA | c.733T>G (p.Phe245Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107597T= | CA2277812247 | GAA | c.733T= (p.Phe245=)
| |
17 | g.80107598T>A | CA401363217 | GAA | c.734T>A (p.Phe245Tyr)
| |
17 | g.80107598T>C | CA401363214 | GAA | c.734T>C (p.Phe245Ser)
| |
17 | g.80107598T>G | CA401363212 | GAA | c.734T>G (p.Phe245Cys)
| |
17 | g.80107598_80107599delinsTC | CA2277812248 | GAA | c.734_735delinsTC (p.Phe245=)
| |
17 | g.80107599C>A | CA401363219 | GAA | c.735C>A (p.Phe245Leu)
| gnomAD v4 |
17 | g.80107599C= | CA2277812249 | GAA | c.735C= (p.Phe245=)
| |
17 | g.80107599C>G | CA401363223 | GAA | c.735C>G (p.Phe245Leu)
| |
17 | g.80107599C>T | CA502402359 | GAA | c.735C>T (p.Phe245=)
| ClinVar dbSNP COSMIC |
17 | g.80107600del | CA10606113 | GAA | c.736del (p.Leu246PhefsTer22)
| ClinVar dbSNP |
17 | g.80107600C>A | CA401363228 | GAA | c.736C>A (p.Leu246Ile)
| |
17 | g.80107600C= | CA2277812250 | GAA | c.736C= (p.Leu246=)
| |
17 | g.80107600C>G | CA401363226 | GAA | c.736C>G (p.Leu246Val)
| |
17 | g.80107600C>T | CA8815005 | GAA | c.736C>T (p.Leu246Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107601T>A | CA401363232 | GAA | c.737T>A (p.Leu246His)
| |
17 | g.80107601T>C | CA401363233 | GAA | c.737T>C (p.Leu246Pro)
| |
17 | g.80107601T>G | CA401363235 | GAA | c.737T>G (p.Leu246Arg)
| ClinVar dbSNP |
17 | g.80107601T= | CA2277812251 | GAA | c.737T= (p.Leu246=)
| |
17 | g.80107602T>A | CA502402363 | GAA | c.738T>A (p.Leu246=)
| |
17 | g.80107602T>C | CA502402364 | GAA | c.738T>C (p.Leu246=)
| |
17 | g.80107602T>G | CA502402365 | GAA | c.738T>G (p.Leu246=)
| |
17 | g.80107603C>A | CA401363238 | GAA | c.739C>A (p.Gln247Lys)
| |
17 | g.80107603C>G | CA401363240 | GAA | c.739C>G (p.Gln247Glu)
| |
17 | g.80107603C>T | CA401363242 | GAA | c.739C>T (p.Gln247Ter)
| ClinVar |
17 | g.80107604A>C | CA401363245 | GAA | c.740A>C (p.Gln247Pro)
| |
17 | g.80107604A>G | CA401363248 | GAA | c.740A>G (p.Gln247Arg)
| |
17 | g.80107604A>T | CA401363250 | GAA | c.740A>T (p.Gln247Leu)
| |
17 | g.80107605G>A | CA502402367 | GAA | c.741G>A (p.Gln247=)
| ClinVar |
17 | g.80107605G>C | CA401363255 | GAA | c.741G>C (p.Gln247His)
| dbSNP |
17 | g.80107605G= | CA2277812252 | GAA | c.741G= (p.Gln247=)
| |
17 | g.80107605G>T | CA401363252 | GAA | c.741G>T (p.Gln247His)
| |
17 | g.80107606del | CA658795236 | GAA | c.742del (p.Leu248CysfsTer20)
| ClinVar |
17 | g.80107606C>A | CA401363257 | GAA | c.742C>A (p.Leu248Met)
| |
17 | g.80107606C>G | CA401363258 | GAA | c.742C>G (p.Leu248Val)
| |
17 | g.80107606C>T | CA502402370 | GAA | c.742C>T (p.Leu248=)
| ClinVar gnomAD v4 |
17 | g.80107607T>A | CA401363260 | GAA | c.743T>A (p.Leu248Gln)
| |
17 | g.80107607T>C | CA401363263 | GAA | c.743T>C (p.Leu248Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107607T>G | CA401363265 | GAA | c.743T>G (p.Leu248Arg)
| |
17 | g.80107607T= | CA2277812253 | GAA | c.743T= (p.Leu248=)
| |
17 | g.80107608G>A | CA502402372 | GAA | c.744G>A (p.Leu248=)
| |
17 | g.80107608G>C | CA8815006 | GAA | c.744G>C (p.Leu248=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107608G= | CA2277812254 | GAA | c.744G= (p.Leu248=)
| |
17 | g.80107608G>T | CA502402373 | GAA | c.744G>T (p.Leu248=)
| |
17 | g.80107609T>A | CA401363268 | GAA | c.745T>A (p.Ser249Thr)
| |
17 | g.80107609T>C | CA401363271 | GAA | c.745T>C (p.Ser249Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107609T>G | CA401363274 | GAA | c.745T>G (p.Ser249Ala)
| |
17 | g.80107609T= | CA2277812255 | GAA | c.745T= (p.Ser249=)
| |
17 | g.80107610C>A | CA401363277 | GAA | c.746C>A (p.Ser249Tyr)
| |
17 | g.80107610C>G | CA401363278 | GAA | c.746C>G (p.Ser249Cys)
| |
17 | g.80107610C>T | CA401363280 | GAA | c.746C>T (p.Ser249Phe)
| |
17 | g.80107612_80107623del | CA2640279336 | GAA | c.748_759del (p.Thr250_Pro253del)
| gnomAD v4 |
17 | g.80107611C>A | CA502402374 | GAA | c.747C>A (p.Ser249=)
| |
17 | g.80107611C= | CA2277812256 | GAA | c.747C= (p.Ser249=)
| |
17 | g.80107611C>G | CA502402375 | GAA | c.747C>G (p.Ser249=)
| ClinVar |
17 | g.80107611C>T | CA502402376 | GAA | c.747C>T (p.Ser249=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107612A= | CA2277812257 | GAA | c.748A= (p.Thr250=)
| |
17 | g.80107612A>C | CA401363288 | GAA | c.748A>C (p.Thr250Pro)
| |
17 | g.80107612A>G | CA401363286 | GAA | c.748A>G (p.Thr250Ala)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107612A>T | CA401363284 | GAA | c.748A>T (p.Thr250Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107613C>A | CA401363292 | GAA | c.749C>A (p.Thr250Asn)
| |
17 | g.80107613C= | CA2277812258 | GAA | c.749C= (p.Thr250=)
| |
17 | g.80107613C>G | CA401363295 | GAA | c.749C>G (p.Thr250Ser)
| |
17 | g.80107613C>T | CA401363297 | GAA | c.749C>T (p.Thr250Ile)
| dbSNP gnomAD v2 |
17 | g.80107619_80107627del | CA2640279352 | GAA | c.755_763del (p.Leu252_Ser254del)
| gnomAD v4 |
17 | g.80107614C>A | CA502402615 | GAA | c.750C>A (p.Thr250=)
| |
17 | g.80107614C>G | CA502402613 | GAA | c.750C>G (p.Thr250=)
| |
17 | g.80107614C>T | CA502402614 | GAA | c.750C>T (p.Thr250=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107615T>A | CA401363302 | GAA | c.751T>A (p.Ser251Thr)
| |
17 | g.80107615T>C | CA401363304 | GAA | c.751T>C (p.Ser251Pro)
| |
17 | g.80107615T>G | CA401363308 | GAA | c.751T>G (p.Ser251Ala)
| |
17 | g.80107616C>A | CA401363310 | GAA | c.752C>A (p.Ser251Ter)
| |
17 | g.80107616C= | CA2277812259 | GAA | c.752C= (p.Ser251=)
| |
17 | g.80107616C>G | CA401363312 | GAA | c.752C>G (p.Ser251Trp)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107616C>T | CA8815007 | GAA | c.752C>T (p.Ser251Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.[80107616C>T;80107625C>T] | CA2573102892 | GAA | c.[752C>T;761C>T] (p.[Ser251Leu;Ser254Leu])
| |
17 | g.80107616_80107625delinsTGCTGCCCTT | CA2695227069 | GAA | c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu)
| |
17 | g.80107617G>A | CA8815008 | GAA | c.753G>A (p.Ser251=)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80107617G>C | CA502402622 | GAA | c.753G>C (p.Ser251=)
| |
17 | g.80107617G= | CA2277812260 | GAA | c.753G= (p.Ser251=)
| |
17 | g.80107617G>T | CA502402625 | GAA | c.753G>T (p.Ser251=)
| ClinVar dbSNP |
17 | g.80107618C>A | CA401363320 | GAA | c.754C>A (p.Leu252Met)
| |
17 | g.80107618C= | CA2277812261 | GAA | c.754C= (p.Leu252=)
| |
17 | g.80107618C>G | CA401363323 | GAA | c.754C>G (p.Leu252Val)
| |
17 | g.80107618C>T | CA502402627 | GAA | c.754C>T (p.Leu252=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107618dup | CA913014090 | GAA | c.754dup (p.Leu252ProfsTer?)
| |
17 | g.80107619T>A | CA401363329 | GAA | c.755T>A (p.Leu252Gln)
| |
17 | g.80107619T>C | CA401363327 | GAA | c.755T>C (p.Leu252Pro)
| |
17 | g.80107619T>G | CA401363326 | GAA | c.755T>G (p.Leu252Arg)
| |
17 | g.80107619dup | CA658824779 | GAA | c.755dup (p.Pro253AlafsTer?)
| ClinVar dbSNP |
17 | g.80107620G>A | CA502402628 | GAA | c.756G>A (p.Leu252=)
| ClinVar gnomAD v4 |
17 | g.80107620G>C | CA502402629 | GAA | c.756G>C (p.Leu252=)
| |
17 | g.80107620G>T | CA502402630 | GAA | c.756G>T (p.Leu252=)
| |
17 | g.80107620_80107621delinsGC | CA2277812262 | GAA | c.756_757delinsGC (p.Leu252=)
| |
17 | g.80107620_80107621insT | CA2695227070 | GAA | c.756_757insT (p.Pro253SerfsTer?)
| |
17 | g.80107621C>A | CA401363333 | GAA | c.757C>A (p.Pro253Thr)
| |
17 | g.80107621C>G | CA401363335 | GAA | c.757C>G (p.Pro253Ala)
| |
17 | g.80107621C>T | CA401363337 | GAA | c.757C>T (p.Pro253Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107623del | CA916082438 | GAA | c.759del (p.Ser254ArgfsTer14)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107622C>A | CA401363342 | GAA | c.758C>A (p.Pro253His)
| gnomAD v4 |
17 | g.80107622C= | CA2277812263 | GAA | c.758C= (p.Pro253=)
| |
17 | g.80107622C>G | CA401363344 | GAA | c.758C>G (p.Pro253Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107622C>T | CA401363346 | GAA | c.758C>T (p.Pro253Leu)
| |
17 | g.80107623_80107627del | CA2499225002 | GAA | c.759_763del (p.Ser254ValfsTer?)
| dbSNP |
17 | g.80107623C>A | CA502402633 | GAA | c.759C>A (p.Pro253=)
| |
17 | g.80107623C= | CA2277812264 | GAA | c.759C= (p.Pro253=)
| |
17 | g.80107623C>G | CA502402634 | GAA | c.759C>G (p.Pro253=)
| |
17 | g.80107623C>T | CA502402635 | GAA | c.759C>T (p.Pro253=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107624T>A | CA401363351 | GAA | c.760T>A (p.Ser254Thr)
| |
17 | g.80107624T>C | CA401363355 | GAA | c.760T>C (p.Ser254Pro)
| |
17 | g.80107624T>G | CA401363356 | GAA | c.760T>G (p.Ser254Ala)
| |
17 | g.80107625C>A | CA401363360 | GAA | c.761C>A (p.Ser254Ter)
| |
17 | g.80107625C= | CA2277812265 | GAA | c.761C= (p.Ser254=)
| |
17 | g.80107625C>G | CA401363363 | GAA | c.761C>G (p.Ser254Trp)
| gnomAD v4 |
17 | g.80107625C>T | CA8815009 | GAA | c.761C>T (p.Ser254Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107626G>A | CA8815010 | GAA | c.762G>A (p.Ser254=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107626G>C | CA502402638 | GAA | c.762G>C (p.Ser254=)
| gnomAD v4 |
17 | g.80107626G= | CA2277812266 | GAA | c.762G= (p.Ser254=)
| |
17 | g.80107626G>T | CA502402639 | GAA | c.762G>T (p.Ser254=)
| |
17 | g.80107627C>A | CA401363375 | GAA | c.763C>A (p.Gln255Lys)
| |
17 | g.80107627C= | CA2277812267 | GAA | c.763C= (p.Gln255=)
| |
17 | g.80107627C>G | CA401363373 | GAA | c.763C>G (p.Gln255Glu)
| |
17 | g.80107627C>T | CA401363371 | GAA | c.763C>T (p.Gln255Ter)
| ClinVar dbSNP |
17 | g.80107628A= | CA2277812269 | GAA | c.764A= (p.Gln255=)
| |
17 | g.80107628A>C | CA401363381 | GAA | c.764A>C (p.Gln255Pro)
| |
17 | g.80107628A>G | CA401363379 | GAA | c.764A>G (p.Gln255Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107628A>T | CA401363384 | GAA | c.764A>T (p.Gln255Leu)
| |
17 | g.80107628_80107647delinsAGTATATCACAGGCCTCGCC | CA2277812268 | GAA | c.764_783delinsAGTATATCACAGGCCTCGCC (p.Gln255=)
| |
17 | g.80107629G>A | CA502402642 | GAA | c.765G>A (p.Gln255=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107629G>C | CA401363387 | GAA | c.765G>C (p.Gln255His)
| |
17 | g.80107629G= | CA2277812271 | GAA | c.765G= (p.Gln255=)
| |
17 | g.80107629G>T | CA401363390 | GAA | c.765G>T (p.Gln255His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107630_80107648del | CA775511087 | GAA | c.766_784del (p.Tyr256SerfsTer6)
| dbSNP |
17 | g.80107629_80107649delinsGTATATCACAGGCCTCGCCGA | CA2277812270 | GAA | c.765_785delinsGTATATCACAGGCCTCGCCGA (p.Gln255=)
| |
17 | g.80107630T>A | CA401363392 | GAA | c.766T>A (p.Tyr256Asn)
| |
17 | g.80107630T>C | CA401363393 | GAA | c.766T>C (p.Tyr256His)
| gnomAD v4 |
17 | g.80107630T>G | CA401363395 | GAA | c.766T>G (p.Tyr256Asp)
| |
17 | g.80107630T= | CA2277812272 | GAA | c.766T= (p.Tyr256=)
| |
17 | g.80107630_80107634del | CA986723296 | GAA | c.766_770del (p.Tyr256HisfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107630_80107649delinsC | CA274073 | GAA | c.766_785delinsC (p.Tyr256ArgfsTer6)
| ClinVar dbSNP |
17 | g.80107630_80107631insC | CA658824780 | GAA | c.766_767insC (p.Tyr256SerfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107631A= | CA2277812273 | GAA | c.767A= (p.Tyr256=)
| |
17 | g.80107631A>C | CA401363398 | GAA | c.767A>C (p.Tyr256Ser)
| |
17 | g.80107631A>G | CA8815011 | GAA | c.767A>G (p.Tyr256Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107631A>T | CA401363400 | GAA | c.767A>T (p.Tyr256Phe)
| |
17 | g.80107631dup | CA913014092 | GAA | c.767dup (p.Tyr256Ter)
| |
17 | g.80107632T>A | CA401363402 | GAA | c.768T>A (p.Tyr256Ter)
| |
17 | g.80107632T>C | CA502402645 | GAA | c.768T>C (p.Tyr256=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107632T>G | CA401363403 | GAA | c.768T>G (p.Tyr256Ter)
| COSMIC |
17 | g.80107632T= | CA2277812274 | GAA | c.768T= (p.Tyr256=)
| |
17 | g.80107632dup | CA502402648 | GAA | c.768dup (p.Ile257TyrfsTer?)
| ClinVar dbSNP |
17 | g.80107633A= | CA2277812275 | GAA | c.769A= (p.Ile257=)
| |
17 | g.80107633A>C | CA401363404 | GAA | c.769A>C (p.Ile257Leu)
| |
17 | g.80107633A>G | CA8815012 | GAA | c.769A>G (p.Ile257Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107633A>T | CA401363407 | GAA | c.769A>T (p.Ile257Phe)
| gnomAD v4 |
17 | g.80107634T>A | CA401363409 | GAA | c.770T>A (p.Ile257Asn)
| |
17 | g.80107634T>C | CA401363412 | GAA | c.770T>C (p.Ile257Thr)
| |
17 | g.80107634T>G | CA401363410 | GAA | c.770T>G (p.Ile257Ser)
| |
17 | g.80107635C>A | CA502402652 | GAA | c.771C>A (p.Ile257=)
| |
17 | g.80107635C>G | CA401363414 | GAA | c.771C>G (p.Ile257Met)
| |
17 | g.80107635C>T | CA502402651 | GAA | c.771C>T (p.Ile257=)
| |
17 | g.80107636A>C | CA401363416 | GAA | c.772A>C (p.Thr258Pro)
| |
17 | g.80107636A>G | CA401363417 | GAA | c.772A>G (p.Thr258Ala)
| |
17 | g.80107636A>T | CA401363419 | GAA | c.772A>T (p.Thr258Ser)
| |
17 | g.80107636_80107649del | CA986723305 | GAA | c.772_785del (p.Thr258AlafsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.80107637C>A | CA401363421 | GAA | c.773C>A (p.Thr258Lys)
| |
17 | g.80107637C= | CA2277812276 | GAA | c.773C= (p.Thr258=)
| |
17 | g.80107637C>G | CA401363422 | GAA | c.773C>G (p.Thr258Arg)
| ClinVar dbSNP |
17 | g.80107637C>T | CA401363423 | GAA | c.773C>T (p.Thr258Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107638A= | CA2277812277 | GAA | c.774A= (p.Thr258=)
| |
17 | g.80107638A>C | CA8815013 | GAA | c.774A>C (p.Thr258=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>G | CA8815014 | GAA | c.774A>G (p.Thr258=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107638A>T | CA502402658 | GAA | c.774A>T (p.Thr258=)
| gnomAD v4 |
17 | g.80107639G>A | CA401363432 | GAA | c.775G>A (p.Gly259Ser)
| ClinVar dbSNP |
17 | g.80107639G>C | CA401363430 | GAA | c.775G>C (p.Gly259Arg)
| |
17 | g.80107639G>T | CA401363428 | GAA | c.775G>T (p.Gly259Cys)
| |
17 | g.80107640G>A | CA401363434 | GAA | c.776G>A (p.Gly259Asp)
| |
17 | g.80107640G>C | CA401363436 | GAA | c.776G>C (p.Gly259Ala)
| |
17 | g.80107640G>T | CA401363437 | GAA | c.776G>T (p.Gly259Val)
| |
17 | g.80107641C>A | CA502402660 | GAA | c.777C>A (p.Gly259=)
| |
17 | g.80107641C= | CA2277812278 | GAA | c.777C= (p.Gly259=)
| |
17 | g.80107641C>G | CA502402661 | GAA | c.777C>G (p.Gly259=)
| ClinVar |
17 | g.80107641C>T | CA502402662 | GAA | c.777C>T (p.Gly259=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107642C>A | CA401363438 | GAA | c.778C>A (p.Leu260Ile)
| |
17 | g.80107642C>G | CA401363440 | GAA | c.778C>G (p.Leu260Val)
| |
17 | g.80107642C>T | CA401363441 | GAA | c.778C>T (p.Leu260Phe)
| |
17 | g.80107643T>A | CA401363443 | GAA | c.779T>A (p.Leu260His)
| |
17 | g.80107643T>C | CA401363445 | GAA | c.779T>C (p.Leu260Pro)
| |
17 | g.80107643T>G | CA401363447 | GAA | c.779T>G (p.Leu260Arg)
| |
17 | g.80107644C>A | CA502402666 | GAA | c.780C>A (p.Leu260=)
| |
17 | g.80107644C= | CA2277812279 | GAA | c.780C= (p.Leu260=)
| |
17 | g.80107644C>G | CA502402667 | GAA | c.780C>G (p.Leu260=)
| |
17 | g.80107644C>T | CA8815015 | GAA | c.780C>T (p.Leu260=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107645G>A | CA8815016 | GAA | c.781G>A (p.Ala261Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107645G>C | CA401363450 | GAA | c.781G>C (p.Ala261Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107645G= | CA2277812280 | GAA | c.781G= (p.Ala261=)
| |
17 | g.80107645G>T | CA401363452 | GAA | c.781G>T (p.Ala261Ser)
| gnomAD v4 |
17 | g.80107646C>A | CA401363454 | GAA | c.782C>A (p.Ala261Asp)
| |
17 | g.80107646C>G | CA401363458 | GAA | c.782C>G (p.Ala261Gly)
| |
17 | g.80107646C>T | CA401363456 | GAA | c.782C>T (p.Ala261Val)
| ClinVar dbSNP |
17 | g.80107647C>A | CA502402669 | GAA | c.783C>A (p.Ala261=)
| ClinVar dbSNP |
17 | g.80107647C= | CA2277812281 | GAA | c.783C= (p.Ala261=)
| |
17 | g.80107647C>G | CA502402671 | GAA | c.783C>G (p.Ala261=)
| |
17 | g.80107647C>T | CA8815017 | GAA | c.783C>T (p.Ala261=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107648del | CA2640279548 | GAA | c.784del (p.Glu262SerfsTer6)
| gnomAD v4 |
17 | g.80107648G>A | CA273984 | GAA | c.784G>A (p.Glu262Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107648G>C | CA401363459 | GAA | c.784G>C (p.Glu262Gln)
| gnomAD v4 |
17 | g.80107648G= | CA2277812282 | GAA | c.784G= (p.Glu262=)
| |
17 | g.80107648G>T | CA401363462 | GAA | c.784G>T (p.Glu262Ter)
| |
17 | g.80107649A= | CA2277812283 | GAA | c.785A= (p.Glu262=)
| |
17 | g.80107649A>C | CA401363464 | GAA | c.785A>C (p.Glu262Ala)
| dbSNP |
17 | g.80107649A>G | CA401363465 | GAA | c.785A>G (p.Glu262Gly)
| |
17 | g.80107649A>T | CA401363467 | GAA | c.785A>T (p.Glu262Val)
| |
17 | g.80107650G>A | CA502402673 | GAA | c.786G>A (p.Glu262=)
| ClinVar gnomAD v4 |
17 | g.80107650G>C | CA401363470 | GAA | c.786G>C (p.Glu262Asp)
| |
17 | g.80107650G>T | CA401363472 | GAA | c.786G>T (p.Glu262Asp)
| |
17 | g.80107651C>A | CA401363477 | GAA | c.787C>A (p.His263Asn)
| |
17 | g.80107651C= | CA2277812284 | GAA | c.787C= (p.His263=)
| |
17 | g.80107651C>G | CA401363476 | GAA | c.787C>G (p.His263Asp)
| |
17 | g.80107651C>T | CA401363475 | GAA | c.787C>T (p.His263Tyr)
| ClinVar dbSNP |
17 | g.80107652A= | CA2277812285 | GAA | c.788A= (p.His263=)
| |
17 | g.80107652A>C | CA401363478 | GAA | c.788A>C (p.His263Pro)
| |
17 | g.80107652A>G | CA8815018 | GAA | c.788A>G (p.His263Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107652A>T | CA401363479 | GAA | c.788A>T (p.His263Leu)
| |
17 | g.80107653C>A | CA401363480 | GAA | c.789C>A (p.His263Gln)
| |
17 | g.80107653C= | CA2277812286 | GAA | c.789C= (p.His263=)
| |
17 | g.80107653C>G | CA401363481 | GAA | c.789C>G (p.His263Gln)
| |
17 | g.80107653C>T | CA502402675 | GAA | c.789C>T (p.His263=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107654C>A | CA401363482 | GAA | c.790C>A (p.Leu264Ile)
| |
17 | g.80107654C= | CA2277812287 | GAA | c.790C= (p.Leu264=)
| |
17 | g.80107654C>G | CA401363483 | GAA | c.790C>G (p.Leu264Val)
| |
17 | g.80107654C>T | CA294889693 | GAA | c.790C>T (p.Leu264Phe)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107655T>A | CA401363484 | GAA | c.791T>A (p.Leu264His)
| |
17 | g.80107655T>C | CA401363485 | GAA | c.791T>C (p.Leu264Pro)
| |
17 | g.80107655T>G | CA401363486 | GAA | c.791T>G (p.Leu264Arg)
| |
17 | g.80107656C>A | CA502402678 | GAA | c.792C>A (p.Leu264=)
| |
17 | g.80107656C>G | CA502402677 | GAA | c.792C>G (p.Leu264=)
| ClinVar dbSNP |
17 | g.80107656C>T | CA502402676 | GAA | c.792C>T (p.Leu264=)
| ClinVar |
17 | g.80107657A= | CA2277812288 | GAA | c.793A= (p.Ser265=)
| |
17 | g.80107657A>C | CA401363487 | GAA | c.793A>C (p.Ser265Arg)
| |
17 | g.80107657A>G | CA401363488 | GAA | c.793A>G (p.Ser265Gly)
| |
17 | g.80107657A>T | CA401363489 | GAA | c.793A>T (p.Ser265Cys)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107658del | CA658795237 | GAA | c.794del (p.Ser265IlefsTer3)
| |
17 | g.80107658G>A | CA8815019 | GAA | c.794G>A (p.Ser265Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107658G>C | CA401363490 | GAA | c.794G>C (p.Ser265Thr)
| |
17 | g.80107658G= | CA2277812289 | GAA | c.794G= (p.Ser265=)
| |
17 | g.80107658G>T | CA401363491 | GAA | c.794G>T (p.Ser265Ile)
| |
17 | g.80107659T>A | CA8815020 | GAA | c.795T>A (p.Ser265Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107659T>C | CA502402679 | GAA | c.795T>C (p.Ser265=)
| |
17 | g.80107659T>G | CA401363492 | GAA | c.795T>G (p.Ser265Arg)
| |
17 | g.80107659T= | CA2277812290 | GAA | c.795T= (p.Ser265=)
| |
17 | g.80107660C>A | CA401363493 | GAA | c.796C>A (p.Pro266Thr)
| ClinVar dbSNP |
17 | g.80107660C= | CA2277812291 | GAA | c.796C= (p.Pro266=)
| |
17 | g.80107660C>G | CA401363494 | GAA | c.796C>G (p.Pro266Ala)
| |
17 | g.80107660C>T | CA401363495 | GAA | c.796C>T (p.Pro266Ser)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107661C>A | CA401363496 | GAA | c.797C>A (p.Pro266His)
| |
17 | g.80107661C= | CA2277812292 | GAA | c.797C= (p.Pro266=)
| |
17 | g.80107661C>G | CA401363497 | GAA | c.797C>G (p.Pro266Arg)
| |
17 | g.80107661C>T | CA401363498 | GAA | c.797C>T (p.Pro266Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80107662C>A | CA502402680 | GAA | c.798C>A (p.Pro266=)
| |
17 | g.80107662C= | CA2277812293 | GAA | c.798C= (p.Pro266=)
| |
17 | g.80107662C>G | CA502402682 | GAA | c.798C>G (p.Pro266=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107662C>T | CA502402681 | GAA | c.798C>T (p.Pro266=)
| |
17 | g.80107662_80107665delinsCCTG | CA2277812294 | GAA | c.798_801delinsCCTG (p.Pro266=)
| |
17 | g.80107662_80107666delinsCCTGA | CA2277812295 | GAA | c.798_802delinsCCTGA (p.Pro266=)
| |
17 | g.80107662_80107667delinsCCTGAT | CA2277812296 | GAA | c.798_803delinsCCTGAT (p.Pro266=)
| |
17 | g.80107663C>A | CA401363499 | GAA | c.799C>A (p.Leu267Met)
| |
17 | g.80107663C>G | CA401363500 | GAA | c.799C>G (p.Leu267Val)
| |
17 | g.80107663C>T | CA502402683 | GAA | c.799C>T (p.Leu267=)
| |
17 | g.80107663_80107665del | CA986723335 | GAA | c.799_801del (p.Leu267del)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107663_80107666del | CA2277812297 | GAA | c.799_802del (p.Leu267CysfsTer?)
| dbSNP |
17 | g.80107663_80107667delinsA | CA891862613 | GAA | c.799_803delinsA (p.Leu267SerfsTer?)
| ClinVar dbSNP |
17 | g.80107664del | CA2640279626 | GAA | c.800del (p.Leu267ArgfsTer?)
| gnomAD v4 |
17 | g.80107664T>A | CA401363503 | GAA | c.800T>A (p.Leu267Gln)
| |
17 | g.80107664T>C | CA401363502 | GAA | c.800T>C (p.Leu267Pro)
| |
17 | g.80107664T>G | CA401363501 | GAA | c.800T>G (p.Leu267Arg)
| |
17 | g.80107665G>A | CA502402684 | GAA | c.801G>A (p.Leu267=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107665G>C | CA502402685 | GAA | c.801G>C (p.Leu267=)
| |
17 | g.80107665G= | CA2277812298 | GAA | c.801G= (p.Leu267=)
| |
17 | g.80107665G>T | CA502402686 | GAA | c.801G>T (p.Leu267=)
| |
17 | g.80107666A>C | CA401363504 | GAA | c.802A>C (p.Met268Leu)
| |
17 | g.80107666A>G | CA401363505 | GAA | c.802A>G (p.Met268Val)
| gnomAD v4 |
17 | g.80107666A>T | CA401363506 | GAA | c.802A>T (p.Met268Leu)
| |
17 | g.80107666_80107667delinsAT | CA2277812299 | GAA | c.802_803delinsAT (p.Met268=)
| |
17 | g.80107667del | CA986723336 | GAA | c.803del (p.Met268SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107667T>A | CA401363507 | GAA | c.803T>A (p.Met268Lys)
| dbSNP gnomAD v4 |
17 | g.80107667T>C | CA401363508 | GAA | c.803T>C (p.Met268Thr)
| |
17 | g.80107667T>G | CA401363509 | GAA | c.803T>G (p.Met268Arg)
| |
17 | g.80107667T= | CA2277812300 | GAA | c.803T= (p.Met268=)
| |
17 | g.80107668G>A | CA401363510 | GAA | c.804G>A (p.Met268Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107668G>C | CA401363511 | GAA | c.804G>C (p.Met268Ile)
| ClinVar |
17 | g.80107668G= | CA2277812301 | GAA | c.804G= (p.Met268=)
| |
17 | g.80107668G>T | CA401363512 | GAA | c.804G>T (p.Met268Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107668_80107693delinsGCTCAGCACCAGCTGGACCAGGATCA | CA2277812302 | GAA | c.804_829delinsGCTCAGCACCAGCTGGACCAGGATCA (p.Met268=)
| |
17 | g.80107669C>A | CA401363513 | GAA | c.805C>A (p.Leu269Ile)
| |
17 | g.80107669C>G | CA401363514 | GAA | c.805C>G (p.Leu269Val)
| |
17 | g.80107669C>T | CA401363515 | GAA | c.805C>T (p.Leu269Phe)
| gnomAD v4 |
17 | g.80107670_80107694del | CA915952247 | GAA | c.806_830del (p.Leu269ProfsTer?)
| ClinVar dbSNP |
17 | g.80107670T>A | CA401363518 | GAA | c.806T>A (p.Leu269His)
| |
17 | g.80107670T>C | CA401363516 | GAA | c.806T>C (p.Leu269Pro)
| ClinVar dbSNP |
17 | g.80107670T>G | CA401363517 | GAA | c.806T>G (p.Leu269Arg)
| |
17 | g.80107670T= | CA2277812303 | GAA | c.806T= (p.Leu269=)
| |
17 | g.80107671C>A | CA502402688 | GAA | c.807C>A (p.Leu269=)
| |
17 | g.80107671C>G | CA502402689 | GAA | c.807C>G (p.Leu269=)
| ClinVar |
17 | g.80107671C>T | CA502402690 | GAA | c.807C>T (p.Leu269=)
| |
17 | g.80107672A= | CA2277812304 | GAA | c.808A= (p.Ser270=)
| |
17 | g.80107672A>C | CA401363519 | GAA | c.808A>C (p.Ser270Arg)
| |
17 | g.80107672A>G | CA401363521 | GAA | c.808A>G (p.Ser270Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107672A>T | CA401363523 | GAA | c.808A>T (p.Ser270Cys)
| |
17 | g.80107673G>A | CA401363525 | GAA | c.809G>A (p.Ser270Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107673G>C | CA401363526 | GAA | c.809G>C (p.Ser270Thr)
| |
17 | g.80107673G= | CA2277812305 | GAA | c.809G= (p.Ser270=)
| |
17 | g.80107673G>T | CA401363528 | GAA | c.809G>T (p.Ser270Ile)
| |
17 | g.80107674C>A | CA401363530 | GAA | c.810C>A (p.Ser270Arg)
| |
17 | g.80107674C= | CA2277812306 | GAA | c.810C= (p.Ser270=)
| |
17 | g.80107674C>G | CA401363532 | GAA | c.810C>G (p.Ser270Arg)
| |
17 | g.80107674C>T | CA502402693 | GAA | c.810C>T (p.Ser270=)
| dbSNP gnomAD v4 |
17 | g.80107675A>C | CA401363534 | GAA | c.811A>C (p.Thr271Pro)
| |
17 | g.80107675A>G | CA401363536 | GAA | c.811A>G (p.Thr271Ala)
| |
17 | g.80107675A>T | CA401363538 | GAA | c.811A>T (p.Thr271Ser)
| |
17 | g.80107676C>A | CA401363544 | GAA | c.812C>A (p.Thr271Asn)
| dbSNP |
17 | g.80107676C= | CA2277812307 | GAA | c.812C= (p.Thr271=)
| |
17 | g.80107676C>G | CA401363542 | GAA | c.812C>G (p.Thr271Ser)
| gnomAD v4 |
17 | g.80107676C>T | CA401363540 | GAA | c.812C>T (p.Thr271Ile)
| dbSNP gnomAD v4 |
17 | g.80107677C>A | CA502402694 | GAA | c.813C>A (p.Thr271=)
| |
17 | g.80107677C= | CA2277812308 | GAA | c.813C= (p.Thr271=)
| |
17 | g.80107677C>G | CA502402695 | GAA | c.813C>G (p.Thr271=)
| |
17 | g.80107677C>T | CA502402696 | GAA | c.813C>T (p.Thr271=)
| dbSNP gnomAD v2 |
17 | g.80107678A>C | CA401363547 | GAA | c.814A>C (p.Ser272Arg)
| |
17 | g.80107678A>G | CA401363545 | GAA | c.814A>G (p.Ser272Gly)
| |
17 | g.80107678A>T | CA401363548 | GAA | c.814A>T (p.Ser272Cys)
| |
17 | g.80107679G>A | CA401363550 | GAA | c.815G>A (p.Ser272Asn)
| |
17 | g.80107679G>C | CA401363553 | GAA | c.815G>C (p.Ser272Thr)
| |
17 | g.80107679G>T | CA401363555 | GAA | c.815G>T (p.Ser272Ile)
| |
17 | g.80107680C>A | CA401363556 | GAA | c.816C>A (p.Ser272Arg)
| |
17 | g.80107680C= | CA2277812309 | GAA | c.816C= (p.Ser272=)
| |
17 | g.80107680C>G | CA401363558 | GAA | c.816C>G (p.Ser272Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107680C>T | CA502402697 | GAA | c.816C>T (p.Ser272=)
| ClinVar dbSNP |
17 | g.80107681T>A | CA401363559 | GAA | c.817T>A (p.Trp273Arg)
| |
17 | g.80107681T>C | CA401363561 | GAA | c.817T>C (p.Trp273Arg)
| |
17 | g.80107681T>G | CA401363563 | GAA | c.817T>G (p.Trp273Gly)
| |
17 | g.80107682G>A | CA8815021 | GAA | c.818G>A (p.Trp273Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80107682G>C | CA401363565 | GAA | c.818G>C (p.Trp273Ser)
| |
17 | g.80107682G= | CA2277812310 | GAA | c.818G= (p.Trp273=)
| |
17 | g.80107682G>T | CA401363567 | GAA | c.818G>T (p.Trp273Leu)
| dbSNP gnomAD v4 |
17 | g.80107683G>A | CA401363572 | GAA | c.819G>A (p.Trp273Ter)
| |
17 | g.80107683G>C | CA401363569 | GAA | c.819G>C (p.Trp273Cys)
| |
17 | g.80107683G>T | CA401363570 | GAA | c.819G>T (p.Trp273Cys)
| |