Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80105819C>A | CA401362306 | GAA | c.617C>A (p.Ser206Tyr) | gnomAD v4 |
17 | g.80105819C= | CA2277811257 | GAA | c.617C= (p.Ser206=) | |
17 | g.80105819C>G | CA8814944 | GAA | c.617C>G (p.Ser206Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105819C>T | CA401362308 | GAA | c.617C>T (p.Ser206Phe) | |
17 | g.80105822del | CA2640277882 | GAA | c.620del (p.Pro207HisfsTer14) c.620del (p.Pro207HisfsTer?) | gnomAD v4 |
17 | g.80105820C>A | CA502177628 | GAA | c.618C>A (p.Ser206=) | ClinVar dbSNP |
17 | g.80105820C= | CA2277811258 | GAA | c.618C= (p.Ser206=) | |
17 | g.80105820C>G | CA502177629 | GAA | c.618C>G (p.Ser206=) | ClinVar dbSNP |
17 | g.80105820C>T | CA8814945 | GAA | c.618C>T (p.Ser206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105821C>A | CA401362351 | GAA | c.619C>A (p.Pro207Thr) | |
17 | g.80105821C>G | CA401362352 | GAA | c.619C>G (p.Pro207Ala) | |
17 | g.80105821C>T | CA401362353 | GAA | c.619C>T (p.Pro207Ser) | ClinVar gnomAD v4 |
17 | g.80105822C>A | CA401362354 | GAA | c.620C>A (p.Pro207Gln) | |
17 | g.80105822C>G | CA401362355 | GAA | c.620C>G (p.Pro207Arg) | |
17 | g.80105822C>T | CA401362356 | GAA | c.620C>T (p.Pro207Leu) | |
17 | g.80105823A= | CA2277811259 | GAA | c.621A= (p.Pro207=) | |
17 | g.80105823A>C | CA502177630 | GAA | c.621A>C (p.Pro207=) | ClinVar |
17 | g.80105823A>G | CA8814946 | GAA | c.621A>G (p.Pro207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105823A>T | CA502177631 | GAA | c.621A>T (p.Pro207=) | |
17 | g.80105824C>A | CA401362357 | GAA | c.622C>A (p.Leu208Ile) | |
17 | g.80105824C>G | CA401362358 | GAA | c.622C>G (p.Leu208Val) | |
17 | g.80105824C>T | CA401362359 | GAA | c.622C>T (p.Leu208Phe) | gnomAD v4 |
17 | g.80105825T>A | CA401362360 | GAA | c.623T>A (p.Leu208His) | |
17 | g.80105825T>C | CA401362361 | GAA | c.623T>C (p.Leu208Pro) | ClinVar dbSNP |
17 | g.80105825T>G | CA401362362 | GAA | c.623T>G (p.Leu208Arg) | |
17 | g.80105825T= | CA2277811260 | GAA | c.623T= (p.Leu208=) | |
17 | g.80105826C>A | CA502177632 | GAA | c.624C>A (p.Leu208=) | |
17 | g.80105826C= | CA2277811261 | GAA | c.624C= (p.Leu208=) | |
17 | g.80105826C>G | CA502177633 | GAA | c.624C>G (p.Leu208=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105826C>T | CA502177634 | GAA | c.624C>T (p.Leu208=) | |
17 | g.80105827T>A | CA401362364 | GAA | c.625T>A (p.Tyr209Asn) c.625T>A | |
17 | g.80105827T>C | CA294888258 | GAA | c.625T>C (p.Tyr209His) c.625T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105827T>G | CA401362363 | GAA | c.625T>G (p.Tyr209Asp) c.625T>G | |
17 | g.80105827T= | CA2277811262 | GAA | c.625T= (p.Tyr209=) c.625T= | |
17 | g.80105827dup | CA8814947 | GAA | c.625dup (p.Tyr209LeufsTer?) c.625dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105828A= | CA2277811263 | GAA | c.626A= (p.Tyr209=) c.626A= | |
17 | g.80105828A>C | CA401362365 | GAA | c.626A>C (p.Tyr209Ser) c.626A>C | |
17 | g.80105828A>G | CA401362366 | GAA | c.626A>G (p.Tyr209Cys) c.626A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105828A>T | CA401362367 | GAA | c.626A>T (p.Tyr209Phe) c.626A>T | |
17 | g.80105829C>A | CA401362368 | GAA | c.627C>A (p.Tyr209Ter) | |
17 | g.80105829C= | CA2277811264 | GAA | c.627C= (p.Tyr209=) | |
17 | g.80105829C>G | CA401362369 | GAA | c.627C>G (p.Tyr209Ter) | gnomAD v4 |
17 | g.80105829C>T | CA502177635 | GAA | c.627C>T (p.Tyr209=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105829_80105830insGCTGT | CA2840052957 | GAA | c.627_628insGCTGT (p.Ser210AlafsTer13) | |
17 | g.80105830A>C | CA401362372 | GAA | c.628A>C (p.Ser210Arg) | |
17 | g.80105830A>G | CA401362371 | GAA | c.628A>G (p.Ser210Gly) | gnomAD v4 |
17 | g.80105830A>T | CA401362370 | GAA | c.628A>T (p.Ser210Cys) | |
17 | g.80105831G>A | CA401362373 | GAA | c.629G>A (p.Ser210Asn) | |
17 | g.80105831G>C | CA401362374 | GAA | c.629G>C (p.Ser210Thr) | |
17 | g.80105831G>T | CA401362375 | GAA | c.629G>T (p.Ser210Ile) | gnomAD v4 |
17 | g.80105831_80105843del | CA913014086 | GAA | c.629_641del (p.Ser210ThrfsTer7) | |
17 | g.80105831_80105843delinsGCGTGGAGTTCTC | CA2277811265 | GAA | c.629_641delinsGCGTGGAGTTCTC (p.Ser210=) | |
17 | g.80105832C>A | CA401362376 | GAA | c.630C>A (p.Ser210Arg) | |
17 | g.80105832C= | CA2277811266 | GAA | c.630C= (p.Ser210=) | |
17 | g.80105832C>G | CA401362377 | GAA | c.630C>G (p.Ser210Arg) | |
17 | g.80105832C>T | CA8814948 | GAA | c.630C>T (p.Ser210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105834_80105845del | CA658824777 | GAA | c.632_643del (p.Val211_Ser214del) | ClinVar dbSNP |
17 | g.80105833G>A | CA8814949 | GAA | c.631G>A (p.Val211Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105833G>C | CA401362379 | GAA | c.631G>C (p.Val211Leu) | |
17 | g.80105833G= | CA2277811267 | GAA | c.631G= (p.Val211=) | |
17 | g.80105833G>T | CA401362378 | GAA | c.631G>T (p.Val211Leu) | |
17 | g.80105834T>A | CA401362380 | GAA | c.632T>A (p.Val211Glu) | |
17 | g.80105834T>C | CA401362381 | GAA | c.632T>C (p.Val211Ala) | gnomAD v4 |
17 | g.80105834T>G | CA401362382 | GAA | c.632T>G (p.Val211Gly) | |
17 | g.80105835G>A | CA502177636 | GAA | c.633G>A (p.Val211=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105835G>C | CA502177637 | GAA | c.633G>C (p.Val211=) | |
17 | g.80105835G>T | CA502177638 | GAA | c.633G>T (p.Val211=) | gnomAD v4 |
17 | g.80105836del | CA2576660876 | GAA | c.634del (p.Glu212SerfsTer9) | |
17 | g.80105836G>A | CA8814950 | GAA | c.634G>A (p.Glu212Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105836G>C | CA401362383 | GAA | c.634G>C (p.Glu212Gln) | |
17 | g.80105836G= | CA2277811268 | GAA | c.634G= (p.Glu212=) | |
17 | g.80105836G>T | CA401362384 | GAA | c.634G>T (p.Glu212Ter) | |
17 | g.80105837A>C | CA401362385 | GAA | c.635A>C (p.Glu212Ala) | |
17 | g.80105837A>G | CA401362386 | GAA | c.635A>G (p.Glu212Gly) | |
17 | g.80105837A>T | CA401362387 | GAA | c.635A>T (p.Glu212Val) | |
17 | g.80105838G>A | CA502177639 | GAA | c.636G>A (p.Glu212=) | gnomAD v4 |
17 | g.80105838G>C | CA401362388 | GAA | c.636G>C (p.Glu212Asp) | |
17 | g.80105838G= | CA2277811269 | GAA | c.636G= (p.Glu212=) | |
17 | g.80105838G>T | CA401362389 | GAA | c.636G>T (p.Glu212Asp) | dbSNP gnomAD v4 |
17 | g.80105839T>A | CA401362390 | GAA | c.637T>A (p.Phe213Ile) | |
17 | g.80105839T>C | CA401362392 | GAA | c.637T>C (p.Phe213Leu) | ClinVar |
17 | g.80105839T>G | CA401362391 | GAA | c.637T>G (p.Phe213Val) | |
17 | g.80105840T>A | CA401362393 | GAA | c.638T>A (p.Phe213Tyr) | |
17 | g.80105840T>C | CA401362394 | GAA | c.638T>C (p.Phe213Ser) | |
17 | g.80105840T>G | CA401362395 | GAA | c.638T>G (p.Phe213Cys) | |
17 | g.80105841del | CA2573154933 | GAA | c.639del (p.Ser214ProfsTer7) | ClinVar dbSNP |
17 | g.80105841C>A | CA401362396 | GAA | c.639C>A (p.Phe213Leu) | gnomAD v4 |
17 | g.80105841C>G | CA401362397 | GAA | c.639C>G (p.Phe213Leu) | |
17 | g.80105841C>T | CA502177640 | GAA | c.639C>T (p.Phe213=) | ClinVar dbSNP |
17 | g.80105842T>A | CA401362398 | GAA | c.640T>A (p.Ser214Thr) | |
17 | g.80105842T>C | CA401362399 | GAA | c.640T>C (p.Ser214Pro) | gnomAD v4 |
17 | g.80105842T>G | CA401362400 | GAA | c.640T>G (p.Ser214Ala) | |
17 | g.80105843C>A | CA401362401 | GAA | c.641C>A (p.Ser214Tyr) | |
17 | g.80105843C= | CA2277811270 | GAA | c.641C= (p.Ser214=) | |
17 | g.80105843C>G | CA401362402 | GAA | c.641C>G (p.Ser214Cys) | |
17 | g.80105843C>T | CA401362403 | GAA | c.641C>T (p.Ser214Phe) | dbSNP |
17 | g.80105844C>A | CA8814951 | GAA | c.642C>A (p.Ser214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105844C= | CA2277811271 | GAA | c.642C= (p.Ser214=) | |
17 | g.80105844C>G | CA502177641 | GAA | c.642C>G (p.Ser214=) | |
17 | g.80105844C>T | CA145788 | GAA | c.642C>T (p.Ser214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105845G>A | CA8814952 | GAA | c.643G>A (p.Glu215Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105845G>C | CA401362410 | GAA | c.643G>C (p.Glu215Gln) | |
17 | g.80105845G= | CA2277811272 | GAA | c.643G= (p.Glu215=) | |
17 | g.80105845G>T | CA401362407 | GAA | c.643G>T (p.Glu215Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.80105846A>C | CA401362411 | GAA | c.644A>C (p.Glu215Ala) | |
17 | g.80105846A>G | CA401362412 | GAA | c.644A>G (p.Glu215Gly) | |
17 | g.80105846A>T | CA401362414 | GAA | c.644A>T (p.Glu215Val) | |
17 | g.80105847G>A | CA502177642 | GAA | c.645G>A (p.Glu215=) | |
17 | g.80105847G>C | CA401362416 | GAA | c.645G>C (p.Glu215Asp) | |
17 | g.80105847G>T | CA401362418 | GAA | c.645G>T (p.Glu215Asp) | gnomAD v4 COSMIC |
17 | g.80105848G>A | CA401362419 | GAA | c.646G>A (p.Glu216Lys) | |
17 | g.80105848G>C | CA401362420 | GAA | c.646G>C (p.Glu216Gln) | |
17 | g.80105848G>T | CA401362421 | GAA | c.646G>T (p.Glu216Ter) | gnomAD v4 |
17 | g.80105849A>C | CA401362424 | GAA | c.647A>C (p.Glu216Ala) | |
17 | g.80105849A>G | CA401362426 | GAA | c.647A>G (p.Glu216Gly) | |
17 | g.80105849A>T | CA401362427 | GAA | c.647A>T (p.Glu216Val) | |
17 | g.80105850G>A | CA502177643 | GAA | c.648G>A (p.Glu216=) | gnomAD v4 |
17 | g.80105850G>C | CA401362429 | GAA | c.648G>C (p.Glu216Asp) | |
17 | g.80105850G>T | CA401362431 | GAA | c.648G>T (p.Glu216Asp) | gnomAD v4 |
17 | g.80105851C>A | CA401362433 | GAA | c.649C>A (p.Pro217Thr) | |
17 | g.80105851C= | CA2277811273 | GAA | c.649C= (p.Pro217=) | |
17 | g.80105851C>G | CA401362437 | GAA | c.649C>G (p.Pro217Ala) | |
17 | g.80105851C>T | CA401362432 | GAA | c.649C>T (p.Pro217Ser) | ClinVar dbSNP |
17 | g.80105852C>A | CA401362438 | GAA | c.650C>A (p.Pro217His) | |
17 | g.80105852C>G | CA401362439 | GAA | c.650C>G (p.Pro217Arg) | gnomAD v4 |
17 | g.80105852C>T | CA401362440 | GAA | c.650C>T (p.Pro217Leu) | |
17 | g.80105853C>A | CA502177645 | GAA | c.651C>A (p.Pro217=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105853C= | CA2277811274 | GAA | c.651C= (p.Pro217=) | |
17 | g.80105853C>G | CA502177646 | GAA | c.651C>G (p.Pro217=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105853C>T | CA502177644 | GAA | c.651C>T (p.Pro217=) | dbSNP |
17 | g.80105854T>A | CA401362442 | GAA | c.652T>A (p.Phe218Ile) | |
17 | g.80105854T>C | CA401362444 | GAA | c.652T>C (p.Phe218Leu) | |
17 | g.80105854T>G | CA401362446 | GAA | c.652T>G (p.Phe218Val) | |
17 | g.80105855del | CA2640278020 | GAA | c.653del (p.Phe218SerfsTer3) | gnomAD v4 |
17 | g.80105855T>A | CA401362448 | GAA | c.653T>A (p.Phe218Tyr) | |
17 | g.80105855T>C | CA8814953 | GAA | c.653T>C (p.Phe218Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105855T>G | CA401362451 | GAA | c.653T>G (p.Phe218Cys) | |
17 | g.80105855T= | CA2277811275 | GAA | c.653T= (p.Phe218=) | |
17 | g.80105856C>A | CA401362453 | GAA | c.654C>A (p.Phe218Leu) | dbSNP gnomAD v4 |
17 | g.80105856C= | CA2277811276 | GAA | c.654C= (p.Phe218=) | |
17 | g.80105856C>G | CA401362455 | GAA | c.654C>G (p.Phe218Leu) | gnomAD v4 |
17 | g.80105856C>T | CA8814954 | GAA | c.654C>T (p.Phe218=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80105857G>A | CA274334 | GAA | c.655G>A (p.Gly219Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105857G>C | CA401362459 | GAA | c.655G>C (p.Gly219Arg) | |
17 | g.80105857G= | CA2277811277 | GAA | c.655G= (p.Gly219=) | |
17 | g.80105857G>T | CA401362461 | GAA | c.655G>T (p.Gly219Trp) | gnomAD v4 |
17 | g.80105860dup | CA2573154934 | GAA | c.658dup (p.Val220GlyfsTer?) | ClinVar dbSNP |
17 | g.80105860del | CA2840238216 | GAA | c.658del (p.Val220Ter) | |
17 | g.80105858G>A | CA401362463 | GAA | c.656G>A (p.Gly219Glu) | ClinVar |
17 | g.80105858G>C | CA401362465 | GAA | c.656G>C (p.Gly219Ala) | |
17 | g.80105858G>T | CA401362467 | GAA | c.656G>T (p.Gly219Val) | gnomAD v4 |
17 | g.80105859G>A | CA502177647 | GAA | c.657G>A (p.Gly219=) | ClinVar dbSNP |
17 | g.80105859G>C | CA502177648 | GAA | c.657G>C (p.Gly219=) | |
17 | g.80105859G= | CA2277811278 | GAA | c.657G= (p.Gly219=) | |
17 | g.80105859G>T | CA502177649 | GAA | c.657G>T (p.Gly219=) | gnomAD v4 |
17 | g.80105860G>A | CA401362469 | GAA | c.658G>A (p.Val220Met) | gnomAD v4 |
17 | g.80105860G>C | CA401362471 | GAA | c.658G>C (p.Val220Leu) | |
17 | g.80105860G= | CA2277811279 | GAA | c.658G= (p.Val220=) | |
17 | g.80105860G>T | CA8814955 | GAA | c.658G>T (p.Val220Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105861T>A | CA401362473 | GAA | c.659T>A (p.Val220Glu) | dbSNP gnomAD v2 |
17 | g.80105861T>C | CA401362475 | GAA | c.659T>C (p.Val220Ala) | |
17 | g.80105861T>G | CA401362477 | GAA | c.659T>G (p.Val220Gly) | dbSNP |
17 | g.80105861T= | CA2277811280 | GAA | c.659T= (p.Val220=) | |
17 | g.80105862G>A | CA502177650 | GAA | c.660G>A (p.Val220=) | COSMIC |
17 | g.80105862G>C | CA502177651 | GAA | c.660G>C (p.Val220=) | gnomAD v4 |
17 | g.80105862G>T | CA502177652 | GAA | c.660G>T (p.Val220=) | gnomAD v4 |
17 | g.80105863A= | CA2277811281 | GAA | c.661A= (p.Ile221=) | |
17 | g.80105863A>C | CA401362479 | GAA | c.661A>C (p.Ile221Leu) | |
17 | g.80105863A>G | CA401362481 | GAA | c.661A>G (p.Ile221Val) | |
17 | g.80105863A>T | CA401362483 | GAA | c.661A>T (p.Ile221Phe) | dbSNP gnomAD v4 |
17 | g.80105864T>A | CA401362487 | GAA | c.662T>A (p.Ile221Asn) | |
17 | g.80105864T>C | CA401362489 | GAA | c.662T>C (p.Ile221Thr) | |
17 | g.80105864T>G | CA401362485 | GAA | c.662T>G (p.Ile221Ser) | |
17 | g.80105865C>A | CA502177653 | GAA | c.663C>A (p.Ile221=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105865C= | CA2277811282 | GAA | c.663C= (p.Ile221=) | |
17 | g.80105865C>G | CA401362492 | GAA | c.663C>G (p.Ile221Met) | ClinVar dbSNP gnomAD v4 |
17 | g.80105865C>T | CA8814956 | GAA | c.663C>T (p.Ile221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105866del | CA2810576337 | GAA | c.664del (p.Val222CysfsTer11) | |
17 | g.80105866G>A | CA8814957 | GAA | c.664G>A (p.Val222Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105866G>C | CA401362495 | GAA | c.664G>C (p.Val222Leu) | |
17 | g.80105866G= | CA2277811283 | GAA | c.664G= (p.Val222=) | |
17 | g.80105866G>T | CA401362498 | GAA | c.664G>T (p.Val222Leu) | |
17 | g.80105867T>A | CA401362499 | GAA | c.665T>A (p.Val222Glu) | |
17 | g.80105867T>C | CA401362501 | GAA | c.665T>C (p.Val222Ala) | |
17 | g.80105867T>G | CA401362502 | GAA | c.665T>G (p.Val222Gly) | dbSNP gnomAD v4 |
17 | g.80105867T= | CA2277811284 | GAA | c.665T= (p.Val222=) | |
17 | g.80105868G>A | CA502177654 | GAA | c.666G>A (p.Val222=) | ClinVar gnomAD v4 |
17 | g.80105868G>C | CA502177655 | GAA | c.666G>C (p.Val222=) | |
17 | g.80105868G>T | CA502177656 | GAA | c.666G>T (p.Val222=) | gnomAD v4 |
17 | g.80105869C>A | CA401362504 | GAA | c.667C>A (p.Arg223Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105869C= | CA2277811285 | GAA | c.667C= (p.Arg223=) | |
17 | g.80105869C>G | CA401362506 | GAA | c.667C>G (p.Arg223Gly) | |
17 | g.80105869C>T | CA10606165 | GAA | c.667C>T (p.Arg223Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105869_80105870delinsTA | CA2499224999 | GAA | c.667_668delinsTA (p.Arg223Tyr) | ClinVar dbSNP |
17 | g.80105870G>A | CA145791 | GAA | c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105870G>C | CA401362510 | GAA | c.668G>C (p.Arg223Pro) | dbSNP gnomAD v4 |
17 | g.80105870G= | CA2277811286 | GAA | c.668G= (p.Arg223=) | |
17 | g.80105870G>T | CA401362512 | GAA | c.668G>T (p.Arg223Leu) | gnomAD v4 |
17 | g.80105871C>A | CA502177657 | GAA | c.669C>A (p.Arg223=) | |
17 | g.80105871C>G | CA502177658 | GAA | c.669C>G (p.Arg223=) | |
17 | g.80105871C>T | CA502177659 | GAA | c.669C>T (p.Arg223=) | gnomAD v4 |
17 | g.80105872C>A | CA502177660 | GAA | c.670C>A (p.Arg224=) | |
17 | g.80105872C= | CA2277811287 | GAA | c.670C= (p.Arg224=) | |
17 | g.80105872C>G | CA401362516 | GAA | c.670C>G (p.Arg224Gly) | gnomAD v4 |
17 | g.80105872C>T | CA274477 | GAA | c.670C>T (p.Arg224Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105873G>A | CA8814958 | GAA | c.671G>A (p.Arg224Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105873G>C | CA401362527 | GAA | c.671G>C (p.Arg224Pro) | ClinVar dbSNP gnomAD v2 |
17 | g.80105873G= | CA2277811288 | GAA | c.671G= (p.Arg224=) | |
17 | g.80105873G>T | CA401362528 | GAA | c.671G>T (p.Arg224Leu) | ClinVar |
17 | g.80105874G>A | CA502177661 | GAA | c.672G>A (p.Arg224=) | gnomAD v4 |
17 | g.80105874G>C | CA502177663 | GAA | c.672G>C (p.Arg224=) | |
17 | g.80105874G>T | CA502177662 | GAA | c.672G>T (p.Arg224=) | gnomAD v4 |
17 | g.80105875C>A | CA401362531 | GAA | c.673C>A (p.Gln225Lys) | gnomAD v4 |
17 | g.80105875C>G | CA401362532 | GAA | c.673C>G (p.Gln225Glu) | |
17 | g.80105875C>T | CA401362533 | GAA | c.673C>T (p.Gln225Ter) | gnomAD v4 |
17 | g.80105876A>C | CA401362534 | GAA | c.674A>C (p.Gln225Pro) | |
17 | g.80105876A>G | CA401362535 | GAA | c.674A>G (p.Gln225Arg) | |
17 | g.80105876A>T | CA401362536 | GAA | c.674A>T (p.Gln225Leu) | |
17 | g.80105877G>A | CA502177664 | GAA | c.675G>A (p.Gln225=) | |
17 | g.80105877G>C | CA401362538 | GAA | c.675G>C (p.Gln225His) | |
17 | g.80105877G>T | CA401362539 | GAA | c.675G>T (p.Gln225His) | gnomAD v4 |
17 | g.80105878C>A | CA401362541 | GAA | c.676C>A (p.Leu226Met) | gnomAD v4 |
17 | g.80105878C= | CA2277811289 | GAA | c.676C= (p.Leu226=) | |
17 | g.80105878C>G | CA198772 | GAA | c.676C>G (p.Leu226Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105878C>T | CA502177665 | GAA | c.676C>T (p.Leu226=) | gnomAD v4 |
17 | g.80105879T>A | CA401362557 | GAA | c.677T>A (p.Leu226Gln) | |
17 | g.80105879T>C | CA8814959 | GAA | c.677T>C (p.Leu226Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105879T>G | CA401362545 | GAA | c.677T>G (p.Leu226Arg) | |
17 | g.80105879T= | CA2277811290 | GAA | c.677T= (p.Leu226=) | |
17 | g.80105880G>A | CA502177666 | GAA | c.678G>A (p.Leu226=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105880G>C | CA502177667 | GAA | c.678G>C (p.Leu226=) | |
17 | g.80105880G= | CA2277811291 | GAA | c.678G= (p.Leu226=) | |
17 | g.80105880G>T | CA502177668 | GAA | c.678G>T (p.Leu226=) | ClinVar gnomAD v4 |
17 | g.80105881G>A | CA401362563 | GAA | c.679G>A (p.Asp227Asn) | gnomAD v4 |
17 | g.80105881G>C | CA401362559 | GAA | c.679G>C (p.Asp227His) | |
17 | g.80105881G= | CA2277811292 | GAA | c.679G= (p.Asp227=) | |
17 | g.80105881G>T | CA401362561 | GAA | c.679G>T (p.Asp227Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105882A>C | CA401362565 | GAA | c.680A>C (p.Asp227Ala) | |
17 | g.80105882A>G | CA401362568 | GAA | c.680A>G (p.Asp227Gly) | gnomAD v4 |
17 | g.80105882A>T | CA401362571 | GAA | c.680A>T (p.Asp227Val) | |
17 | g.80105883del | CA2640278262 | GAA | c.681del (p.Asp227GlufsTer6) | gnomAD v4 |
17 | g.80105883C>A | CA401362576 | GAA | c.681C>A (p.Asp227Glu) | |
17 | g.80105883C= | CA2277811293 | GAA | c.681C= (p.Asp227=) | |
17 | g.80105883C>G | CA401362575 | GAA | c.681C>G (p.Asp227Glu) | |
17 | g.80105883C>T | CA8814960 | GAA | c.681C>T (p.Asp227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105884G>A | CA8814961 | GAA | c.682G>A (p.Gly228Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105884G>C | CA401362580 | GAA | c.682G>C (p.Gly228Arg) | gnomAD v4 |
17 | g.80105884G= | CA2277811294 | GAA | c.682G= (p.Gly228=) | |
17 | g.80105884G>T | CA401362582 | GAA | c.682G>T (p.Gly228Cys) | gnomAD v4 |
17 | g.80105885dup | CA2499225000 | GAA | c.683dup (p.Arg229ProfsTer?) | ClinVar dbSNP |
17 | g.80105885G>A | CA401362586 | GAA | c.683G>A (p.Gly228Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105885G>C | CA401362589 | GAA | c.683G>C (p.Gly228Ala) | |
17 | g.80105885G= | CA2277811295 | GAA | c.683G= (p.Gly228=) | |
17 | g.80105885G>T | CA401362593 | GAA | c.683G>T (p.Gly228Val) | gnomAD v4 |
17 | g.80105886C>A | CA502177669 | GAA | c.684C>A (p.Gly228=) | |
17 | g.80105886C= | CA2277811297 | GAA | c.684C= (p.Gly228=) | |
17 | g.80105886C>G | CA502177671 | GAA | c.684C>G (p.Gly228=) | |
17 | g.80105886C>T | CA502177670 | GAA | c.684C>T (p.Gly228=) | ClinVar dbSNP gnomAD v4 |
17 | g.80105886_80105888delinsCCG | CA2277811296 | GAA | c.684_686delinsCCG (p.Gly228=) | |
17 | g.80105887C>A | CA401362596 | GAA | c.685C>A (p.Arg229Ser) | gnomAD v4 |
17 | g.80105887C= | CA2277811298 | GAA | c.685C= (p.Arg229=) | |
17 | g.80105887C>G | CA401362600 | GAA | c.685C>G (p.Arg229Gly) | |
17 | g.80105887C>T | CA8814962 | GAA | c.685C>T (p.Arg229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105887_80105888insCGGC | CA658795233 | GAA | c.685_686insCGGC (p.Arg229ProfsTer?) | |
17 | g.80105889_80105890del | CA775509910 | GAA | c.687_688del (p.Val230AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105888del | CA2838388729 | GAA | c.686del (p.Arg229ProfsTer4) | |
17 | g.80105888G>A | CA8814963 | GAA | c.686G>A (p.Arg229His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105888G>C | CA401362603 | GAA | c.686G>C (p.Arg229Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105888G= | CA2277811299 | GAA | c.686G= (p.Arg229=) | |
17 | g.80105888G>T | CA401362606 | GAA | c.686G>T (p.Arg229Leu) | gnomAD v4 |
17 | g.80105889C>A | CA502177672 | GAA | c.687C>A (p.Arg229=) | gnomAD v4 |
17 | g.80105889C= | CA2277811300 | GAA | c.687C= (p.Arg229=) | |
17 | g.80105889C>G | CA502177673 | GAA | c.687C>G (p.Arg229=) | |
17 | g.80105889C>T | CA8814964 | GAA | c.687C>T (p.Arg229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80105890G>A | CA207869 | GAA | c.688G>A (p.Val230Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105890G>C | CA401362611 | GAA | c.688G>C (p.Val230Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105890G= | CA2277811301 | GAA | c.688G= (p.Val230=) | |
17 | g.80105890G>T | CA401362614 | GAA | c.688G>T (p.Val230Leu) | gnomAD v4 COSMIC |
17 | g.80105891T>A | CA401362615 | GAA | c.689T>A (p.Val230Glu) | |
17 | g.80105891T>C | CA401362616 | GAA | c.689T>C (p.Val230Ala) | |
17 | g.80105891T>G | CA401362618 | GAA | c.689T>G (p.Val230Gly) | |
17 | g.80105892G>A | CA502177674 | GAA | c.690G>A (p.Val230=) | gnomAD v4 |
17 | g.80105892G>C | CA502177676 | GAA | c.690G>C (p.Val230=) | dbSNP gnomAD v4 |
17 | g.80105892G= | CA2277811302 | GAA | c.690G= (p.Val230=) | |
17 | g.80105892G>T | CA502177675 | GAA | c.690G>T (p.Val230=) | gnomAD v4 |
17 | g.80105893C>A | CA401362630 | GAA | c.691C>A (p.Leu231Met) | gnomAD v4 |
17 | g.80105893C>G | CA401362633 | GAA | c.691C>G (p.Leu231Val) | |
17 | g.80105893C>T | CA502177677 | GAA | c.691C>T (p.Leu231=) | gnomAD v4 |
17 | g.80105893dup | CA2839076005 | GAA | c.691dup (p.Leu231ProfsTer?) | |
17 | g.80105894T>A | CA401362639 | GAA | c.692T>A (p.Leu231Gln) | gnomAD v4 |
17 | g.80105894T>C | CA401362640 | GAA | c.692T>C (p.Leu231Pro) | dbSNP |
17 | g.80105894T>G | CA401362636 | GAA | c.692T>G (p.Leu231Arg) | |
17 | g.80105894T= | CA2277811303 | GAA | c.692T= (p.Leu231=) | |
17 | g.80105896_80105897del | CA2695227067 | GAA | c.692+2_692+3del | |
17 | g.80105895G>A | CA401362642 | GAA | c.692+1G>A (n.692+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105895G>C | CA8814965 | GAA | c.692+1G>C (n.692+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105895G= | CA2277811304 | GAA | c.692+1G= (n.692+1G=) | |
17 | g.80105895G>T | CA401362645 | GAA | c.692+1G>T (n.692+1G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80105896T>A | CA401362649 | GAA | c.692+2T>A (n.692+2T>A) | |
17 | g.80105896T>C | CA401362651 | GAA | c.692+2T>C (n.692+2T>C) | ClinVar dbSNP |
17 | g.80105896T>G | CA401362653 | GAA | c.692+2T>G (n.692+2T>G) | |
17 | g.80105896T= | CA2277811305 | GAA | c.692+2T= (n.692+2T=) | |
17 | g.80105897G>C | CA2640278380 | GAA | c.692+3G>C (n.692+3G>C) | gnomAD v4 |
17 | g.80105897G>T | CA2640278383 | GAA | c.692+3G>T (n.692+3G>T) | gnomAD v4 |
17 | g.80105899G= | CA2277811306 | GAA | c.692+5G= (n.692+5G=) | |
17 | g.80105899G>T | CA8814966 | GAA | c.692+5G>T (n.692+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105900T>A | CA2640278385 | GAA | c.692+6T>A (n.692+6T>A) | gnomAD v4 |
17 | g.80105900T>C | CA2640278388 | GAA | c.692+6T>C (n.692+6T>C) | gnomAD v4 |
17 | g.80105902C= | CA2277811307 | GAA | c.692+8C= (n.692+8C=) | |
17 | g.80105902C>G | CA2580095306 | GAA | c.692+8C>G (n.692+8C>G) | ClinVar |
17 | g.80105902C>T | CA775509952 | GAA | c.692+8C>T (n.692+8C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105903T>C | CA8814967 | GAA | c.692+9T>C (n.692+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105903T= | CA2277811308 | GAA | c.692+9T= (n.692+9T=) | |
17 | g.80105903_80105904delinsTG | CA2277811309 | GAA | c.692+9_692+10delinsTG (n.692+9_692+10delinsTG) | |
17 | g.80105904G>A | CA2640278394 | GAA | c.692+10G>A (n.692+10G>A) | gnomAD v4 |
17 | g.80105904G>T | CA2640278393 | GAA | c.692+10G>T (n.692+10G>T) | gnomAD v4 |
17 | g.80105906del | CA986721616 | GAA | c.692+12del (n.692+12del) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80105905G>A | CA2640278401 | GAA | c.692+11G>A (n.692+11G>A) | gnomAD v4 |
17 | g.80105905G>C | CA627698832 | GAA | c.692+11G>C (n.692+11G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105905G= | CA2277811310 | GAA | c.692+11G= (n.692+11G=) | |
17 | g.80105905G>T | CA2640278403 | GAA | c.692+11G>T (n.692+11G>T) | gnomAD v4 |
17 | g.80105906G>A | CA627698834 | GAA | c.692+12G>A (n.692+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80105906G= | CA2277811311 | GAA | c.692+12G= (n.692+12G=) | |
17 | g.80105906G>T | CA2573154935 | GAA | c.692+12G>T (n.692+12G>T) | ClinVar dbSNP gnomAD v4 |
17 | g.80105907C>A | CA2640278416 | GAA | c.692+13C>A (n.692+13C>A) | gnomAD v4 |
17 | g.80105907C>T | CA2640278417 | GAA | c.692+13C>T (n.692+13C>T) | gnomAD v4 |
17 | g.80105908del | CA2640278419 | GAA | c.692+14del (n.692+14del) | gnomAD v4 |
17 | g.80105909C= | CA2277811312 | GAA | c.692+15C= (n.692+15C=) | |
17 | g.80105909C>T | CA627698835 | GAA | c.692+15C>T (n.692+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105910T>C | CA8814968 | GAA | c.692+16T>C (n.692+16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105910T= | CA2277811313 | GAA | c.692+16T= (n.692+16T=) | |
17 | g.80105911G>A | CA2740090870 | GAA | c.692+17G>A (n.692+17G>A) | ClinVar |
17 | g.80105911G>C | CA8814969 | GAA | c.692+17G>C (n.692+17G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80105911G= | CA2277811314 | GAA | c.692+17G= (n.692+17G=) | |
17 | g.80105911G>T | CA2640278428 | GAA | c.692+17G>T (n.692+17G>T) | gnomAD v4 |
17 | g.80105913G>A | CA656889588 | GAA | c.692+19G>A (n.692+19G>A) | gnomAD v4 COSMIC |
17 | g.80105913G>T | CA2640278434 | GAA | c.692+19G>T (n.692+19G>T) | gnomAD v4 |
17 | g.80105914C>A | CA2640278443 | GAA | c.692+20C>A (n.692+20C>A) | gnomAD v4 |
17 | g.80105914C>T | CA2580095307 | GAA | c.692+20C>T (n.692+20C>T) | ClinVar gnomAD v4 |
17 | g.80105915C>A | CA2839537747 | GAA | c.692+21C>A (n.692+21C>A) | |
17 | g.80105915C= | CA2277811315 | GAA | c.692+21C= (n.692+21C=) | |
17 | g.80105915C>T | CA2277811316 | GAA | c.692+21C>T (n.692+21C>T) | dbSNP gnomAD v4 |
17 | g.80105916A= | CA2277811317 | GAA | c.692+22A= (n.692+22A=) | |
17 | g.80105916A>G | CA775509978 | GAA | c.692+22A>G (n.692+22A>G) | dbSNP |
17 | g.80105917G>A | CA2640278452 | GAA | c.692+23G>A (n.692+23G>A) | gnomAD v4 |
17 | g.80105917G>T | CA2640278455 | GAA | c.692+23G>T (n.692+23G>T) | gnomAD v4 |
17 | g.80105918C>T | CA2640278458 | GAA | c.692+24C>T (n.692+24C>T) | gnomAD v4 |
17 | g.80105919A= | CA2277811318 | GAA | c.692+25A= (n.692+25A=) | |
17 | g.80105919A>G | CA8814970 | GAA | c.692+25A>G (n.692+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80105919A>T | CA2277811319 | GAA | c.692+25A>T (n.692+25A>T) | dbSNP |