Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.206767429_206767430del | CA2577223922 | FASTKD2 | c.736_737del (p.Gln246GlufsTer18) n.794_795del | |
2 | g.206767430A>C | CA350073368 | FASTKD2 | c.737A>C (p.Gln246Pro) n.795A>C | |
2 | g.206767430A>G | CA350073371 | FASTKD2 | c.737A>G (p.Gln246Arg) n.795A>G | gnomAD v4 |
2 | g.206767430A>T | CA350073369 | FASTKD2 | c.737A>T (p.Gln246Leu) n.795A>T | |
2 | g.206767431G>A | CA431115064 | FASTKD2 | c.738G>A (p.Gln246=) n.796G>A | |
2 | g.206767431G>C | CA350073373 | FASTKD2 | c.738G>C (p.Gln246His) n.796G>C | |
2 | g.206767431G>T | CA350073375 | FASTKD2 | c.738G>T (p.Gln246His) n.796G>T | gnomAD v4 |
2 | g.206767432A>C | CA350073377 | FASTKD2 | c.739A>C (p.Asn247His) n.797A>C | |
2 | g.206767432A>G | CA350073379 | FASTKD2 | c.739A>G (p.Asn247Asp) n.797A>G | |
2 | g.206767432A>T | CA350073380 | FASTKD2 | c.739A>T (p.Asn247Tyr) n.797A>T | |
2 | g.206767433A>C | CA350073382 | FASTKD2 | c.740A>C (p.Asn247Thr) n.798A>C | |
2 | g.206767433A>G | CA350073384 | FASTKD2 | c.740A>G (p.Asn247Ser) n.798A>G | |
2 | g.206767433A>T | CA350073386 | FASTKD2 | c.740A>T (p.Asn247Ile) n.798A>T | |
2 | g.206767434C>A | CA350073387 | FASTKD2 | c.741C>A (p.Asn247Lys) n.799C>A | |
2 | g.206767434C>G | CA350073390 | FASTKD2 | c.741C>G (p.Asn247Lys) n.799C>G | |
2 | g.206767434C>T | CA431115071 | FASTKD2 | c.741C>T (p.Asn247=) n.799C>T | |
2 | g.206767435A= | CA1323324886 | FASTKD2 | c.742A= (p.Thr248=) n.800A= | |
2 | g.206767435A>C | CA350073392 | FASTKD2 | c.742A>C (p.Thr248Pro) n.800A>C | |
2 | g.206767435A>G | CA350073394 | FASTKD2 | c.742A>G (p.Thr248Ala) n.800A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767435A>T | CA350073396 | FASTKD2 | c.742A>T (p.Thr248Ser) n.800A>T | |
2 | g.206767436C>A | CA2074935 | FASTKD2 | c.743C>A (p.Thr248Asn) n.801C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767436C= | CA1323324887 | FASTKD2 | c.743C= (p.Thr248=) n.801C= | |
2 | g.206767436C>G | CA350073398 | FASTKD2 | c.743C>G (p.Thr248Ser) n.801C>G | |
2 | g.206767436C>T | CA2074934 | FASTKD2 | c.743C>T (p.Thr248Ile) n.801C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767437T>A | CA431115086 | FASTKD2 | c.744T>A (p.Thr248=) n.802T>A | dbSNP |
2 | g.206767437T>C | CA431115087 | FASTKD2 | c.744T>C (p.Thr248=) n.802T>C | |
2 | g.206767437T>G | CA431115088 | FASTKD2 | c.744T>G (p.Thr248=) n.802T>G | gnomAD v4 |
2 | g.206767437T= | CA1323324888 | FASTKD2 | c.744T= (p.Thr248=) n.802T= | |
2 | g.206767438A>C | CA350073403 | FASTKD2 | c.745A>C (p.Ile249Leu) n.803A>C | ClinVar |
2 | g.206767438A>G | CA350073406 | FASTKD2 | c.745A>G (p.Ile249Val) n.803A>G | gnomAD v4 |
2 | g.206767438A>T | CA350073407 | FASTKD2 | c.745A>T (p.Ile249Phe) n.803A>T | |
2 | g.206767439T>A | CA350073410 | FASTKD2 | c.746T>A (p.Ile249Asn) n.804T>A | |
2 | g.206767439T>C | CA350073411 | FASTKD2 | c.746T>C (p.Ile249Thr) n.804T>C | dbSNP |
2 | g.206767439T>G | CA350073412 | FASTKD2 | c.746T>G (p.Ile249Ser) n.804T>G | |
2 | g.206767439T= | CA1323324889 | FASTKD2 | c.746T= (p.Ile249=) n.804T= | |
2 | g.206767442del | CA2662829159 | FASTKD2 | c.749del (p.Leu250TrpfsTer6) n.807del | gnomAD v4 |
2 | g.206767440T>A | CA431115096 | FASTKD2 | c.747T>A (p.Ile249=) n.805T>A | |
2 | g.206767440T>C | CA431115100 | FASTKD2 | c.747T>C (p.Ile249=) n.805T>C | dbSNP gnomAD v4 |
2 | g.206767440T>G | CA350073414 | FASTKD2 | c.747T>G (p.Ile249Met) n.805T>G | |
2 | g.206767440T= | CA1323324890 | FASTKD2 | c.747T= (p.Ile249=) n.805T= | |
2 | g.206767441T>A | CA350073417 | FASTKD2 | c.748T>A (p.Leu250Met) n.806T>A | |
2 | g.206767441T>C | CA2074936 | FASTKD2 | c.748T>C (p.Leu250=) n.806T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767441T>G | CA63710357 | FASTKD2 | c.748T>G (p.Leu250Val) n.806T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767441T= | CA1323324891 | FASTKD2 | c.748T= (p.Leu250=) n.806T= | |
2 | g.206767442T>A | CA350073423 | FASTKD2 | c.749T>A (p.Leu250Ter) n.807T>A | |
2 | g.206767442T>C | CA350073425 | FASTKD2 | c.749T>C (p.Leu250Ser) n.807T>C | |
2 | g.206767442T>G | CA350073421 | FASTKD2 | c.749T>G (p.Leu250Trp) n.807T>G | |
2 | g.206767443G>A | CA2074937 | FASTKD2 | c.750G>A (p.Leu250=) n.808G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767443G>C | CA350073429 | FASTKD2 | c.750G>C (p.Leu250Phe) n.808G>C | gnomAD v4 |
2 | g.206767443G= | CA1323324892 | FASTKD2 | c.750G= (p.Leu250=) n.808G= | |
2 | g.206767443G>T | CA350073431 | FASTKD2 | c.750G>T (p.Leu250Phe) n.808G>T | gnomAD v4 |
2 | g.206767444G>A | CA2074938 | FASTKD2 | c.751G>A (p.Val251Met) n.809G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767444G>C | CA350073434 | FASTKD2 | c.751G>C (p.Val251Leu) n.809G>C | |
2 | g.206767444G= | CA1323324893 | FASTKD2 | c.751G= (p.Val251=) n.809G= | |
2 | g.206767444G>T | CA350073436 | FASTKD2 | c.751G>T (p.Val251Leu) n.809G>T | |
2 | g.206767445T>A | CA350073439 | FASTKD2 | c.752T>A (p.Val251Glu) n.810T>A | |
2 | g.206767445T>C | CA350073442 | FASTKD2 | c.752T>C (p.Val251Ala) n.810T>C | |
2 | g.206767445T>G | CA350073440 | FASTKD2 | c.752T>G (p.Val251Gly) n.810T>G | |
2 | g.206767446G>A | CA2074939 | FASTKD2 | c.753G>A (p.Val251=) n.811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767446G>C | CA431115118 | FASTKD2 | c.753G>C (p.Val251=) n.811G>C | |
2 | g.206767446G= | CA1323324894 | FASTKD2 | c.753G= (p.Val251=) n.811G= | |
2 | g.206767446G>T | CA431115115 | FASTKD2 | c.753G>T (p.Val251=) n.811G>T | gnomAD v4 |
2 | g.206767447C>A | CA350073445 | FASTKD2 | c.754C>A (p.Gln252Lys) n.812C>A | |
2 | g.206767447C= | CA1323324895 | FASTKD2 | c.754C= (p.Gln252=) n.812C= | |
2 | g.206767447C>G | CA350073447 | FASTKD2 | c.754C>G (p.Gln252Glu) n.812C>G | |
2 | g.206767447C>T | CA350073449 | FASTKD2 | c.754C>T (p.Gln252Ter) n.812C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767448A= | CA1323324896 | FASTKD2 | c.755A= (p.Gln252=) n.813A= | |
2 | g.206767448A>C | CA350073452 | FASTKD2 | c.755A>C (p.Gln252Pro) n.813A>C | |
2 | g.206767448A>G | CA350073455 | FASTKD2 | c.755A>G (p.Gln252Arg) n.813A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767448A>T | CA350073453 | FASTKD2 | c.755A>T (p.Gln252Leu) n.813A>T | |
2 | g.206767449G>A | CA2074940 | FASTKD2 | c.756G>A (p.Gln252=) n.814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767449G>C | CA350073458 | FASTKD2 | c.756G>C (p.Gln252His) n.814G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767449G= | CA1323324897 | FASTKD2 | c.756G= (p.Gln252=) n.814G= | |
2 | g.206767449G>T | CA350073460 | FASTKD2 | c.756G>T (p.Gln252His) n.814G>T | gnomAD v4 |
2 | g.206767450A>C | CA350073462 | FASTKD2 | c.757A>C (p.Thr253Pro) n.815A>C | |
2 | g.206767450A>G | CA350073464 | FASTKD2 | c.757A>G (p.Thr253Ala) n.815A>G | gnomAD v4 |
2 | g.206767450A>T | CA350073465 | FASTKD2 | c.757A>T (p.Thr253Ser) n.815A>T | |
2 | g.206767451C>A | CA350073468 | FASTKD2 | c.758C>A (p.Thr253Asn) n.816C>A | |
2 | g.206767451C= | CA1323324898 | FASTKD2 | c.758C= (p.Thr253=) n.816C= | |
2 | g.206767451C>G | CA350073470 | FASTKD2 | c.758C>G (p.Thr253Ser) n.816C>G | |
2 | g.206767451C>T | CA63710406 | FASTKD2 | c.758C>T (p.Thr253Ile) n.816C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767452T>A | CA431115134 | FASTKD2 | c.759T>A (p.Thr253=) n.817T>A | gnomAD v4 |
2 | g.206767452T>C | CA431115136 | FASTKD2 | c.759T>C (p.Thr253=) n.817T>C | |
2 | g.206767452T>G | CA431115135 | FASTKD2 | c.759T>G (p.Thr253=) n.817T>G | |
2 | g.206767453T>A | CA350073473 | FASTKD2 | c.760T>A (p.Leu254Met) n.818T>A | |
2 | g.206767453T>C | CA431115144 | FASTKD2 | c.760T>C (p.Leu254=) n.818T>C | |
2 | g.206767453T>G | CA350073475 | FASTKD2 | c.760T>G (p.Leu254Val) n.818T>G | |
2 | g.206767454T>A | CA350073479 | FASTKD2 | c.761T>A (p.Leu254Ter) n.819T>A | |
2 | g.206767454T>C | CA350073481 | FASTKD2 | c.761T>C (p.Leu254Ser) n.819T>C | |
2 | g.206767454T>G | CA350073477 | FASTKD2 | c.761T>G (p.Leu254Trp) n.819T>G | gnomAD v4 |
2 | g.206767455G>A | CA431115150 | FASTKD2 | c.762G>A (p.Leu254=) n.820G>A | |
2 | g.206767455G>C | CA350073484 | FASTKD2 | c.762G>C (p.Leu254Phe) n.820G>C | |
2 | g.206767455G>T | CA350073486 | FASTKD2 | c.762G>T (p.Leu254Phe) n.820G>T | COSMIC |
2 | g.206767456C>A | CA350073488 | FASTKD2 | c.763C>A (p.Leu255Met) n.821C>A | gnomAD v4 |
2 | g.206767456C>G | CA350073490 | FASTKD2 | c.763C>G (p.Leu255Val) n.821C>G | |
2 | g.206767456C>T | CA431115156 | FASTKD2 | c.763C>T (p.Leu255=) n.821C>T | |
2 | g.206767457T>A | CA350073492 | FASTKD2 | c.764T>A (p.Leu255Gln) n.822T>A | |
2 | g.206767457T>C | CA350073493 | FASTKD2 | c.764T>C (p.Leu255Pro) n.822T>C | ClinVar dbSNP gnomAD v4 |
2 | g.206767457T>G | CA350073495 | FASTKD2 | c.764T>G (p.Leu255Arg) n.822T>G | |
2 | g.206767457T= | CA1323324899 | FASTKD2 | c.764T= (p.Leu255=) n.822T= | |
2 | g.206767458G>A | CA431115165 | FASTKD2 | c.765G>A (p.Leu255=) n.823G>A | |
2 | g.206767458G>C | CA431115172 | FASTKD2 | c.765G>C (p.Leu255=) n.823G>C | |
2 | g.206767458G>T | CA431115167 | FASTKD2 | c.765G>T (p.Leu255=) n.823G>T | |
2 | g.206767459A= | CA1323324900 | FASTKD2 | c.766A= (p.Arg256=) n.824A= | |
2 | g.206767459A>C | CA431115173 | FASTKD2 | c.766A>C (p.Arg256=) n.824A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767459A>G | CA350073498 | FASTKD2 | c.766A>G (p.Arg256Gly) n.824A>G | |
2 | g.206767459A>T | CA350073499 | FASTKD2 | c.766A>T (p.Arg256Trp) n.824A>T | |
2 | g.206767460G>A | CA350073502 | FASTKD2 | c.767G>A (p.Arg256Lys) n.825G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767460G>C | CA350073503 | FASTKD2 | c.767G>C (p.Arg256Thr) n.825G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767460G= | CA1323324901 | FASTKD2 | c.767G= (p.Arg256=) n.825G= | |
2 | g.206767460G>T | CA350073505 | FASTKD2 | c.767G>T (p.Arg256Met) n.825G>T | |
2 | g.206767461G>A | CA431115185 | FASTKD2 | c.768G>A (p.Arg256=) n.826G>A | gnomAD v4 |
2 | g.206767461G>C | CA350073508 | FASTKD2 | c.768G>C (p.Arg256Ser) n.826G>C | |
2 | g.206767461G= | CA1323324902 | FASTKD2 | c.768G= (p.Arg256=) n.826G= | |
2 | g.206767461G>T | CA2074941 | FASTKD2 | c.768G>T (p.Arg256Ser) n.826G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767462G>A | CA350073515 | FASTKD2 | c.769G>A (p.Val257Met) n.827G>A | dbSNP |
2 | g.206767462G>C | CA350073511 | FASTKD2 | c.769G>C (p.Val257Leu) n.827G>C | |
2 | g.206767462G= | CA1323324903 | FASTKD2 | c.769G= (p.Val257=) n.827G= | |
2 | g.206767462G>T | CA350073513 | FASTKD2 | c.769G>T (p.Val257Leu) n.827G>T | |
2 | g.206767463T>A | CA350073517 | FASTKD2 | c.770T>A (p.Val257Glu) n.828T>A | |
2 | g.206767463T>C | CA350073519 | FASTKD2 | c.770T>C (p.Val257Ala) n.828T>C | |
2 | g.206767463T>G | CA350073520 | FASTKD2 | c.770T>G (p.Val257Gly) n.828T>G | |
2 | g.206767464G>A | CA2074942 | FASTKD2 | c.771G>A (p.Val257=) n.829G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767464G>C | CA431115199 | FASTKD2 | c.771G>C (p.Val257=) n.829G>C | |
2 | g.206767464G= | CA1323324904 | FASTKD2 | c.771G= (p.Val257=) n.829G= | |
2 | g.206767464G>T | CA431115203 | FASTKD2 | c.771G>T (p.Val257=) n.829G>T | gnomAD v4 |
2 | g.206767465A>C | CA350073524 | FASTKD2 | c.772A>C (p.Thr258Pro) n.830A>C | |
2 | g.206767465A>G | CA350073526 | FASTKD2 | c.772A>G (p.Thr258Ala) n.830A>G | |
2 | g.206767465A>T | CA350073528 | FASTKD2 | c.772A>T (p.Thr258Ser) n.830A>T | |
2 | g.206767466C>A | CA350073530 | FASTKD2 | c.773C>A (p.Thr258Asn) n.831C>A | |
2 | g.206767466C>G | CA350073531 | FASTKD2 | c.773C>G (p.Thr258Ser) n.831C>G | |
2 | g.206767466C>T | CA350073534 | FASTKD2 | c.773C>T (p.Thr258Ile) n.831C>T | |
2 | g.206767467C>A | CA431115218 | FASTKD2 | c.774C>A (p.Thr258=) n.832C>A | |
2 | g.206767467C>G | CA431115214 | FASTKD2 | c.774C>G (p.Thr258=) n.832C>G | |
2 | g.206767467C>T | CA431115215 | FASTKD2 | c.774C>T (p.Thr258=) n.832C>T | gnomAD v4 |
2 | g.206767468C>A | CA350073536 | FASTKD2 | c.775C>A (p.Gln259Lys) n.833C>A | |
2 | g.206767468C>G | CA350073538 | FASTKD2 | c.775C>G (p.Gln259Glu) n.833C>G | |
2 | g.206767468C>T | CA350073540 | FASTKD2 | c.775C>T (p.Gln259Ter) n.833C>T | |
2 | g.206767469A>C | CA350073543 | FASTKD2 | c.776A>C (p.Gln259Pro) n.834A>C | |
2 | g.206767469A>G | CA350073546 | FASTKD2 | c.776A>G (p.Gln259Arg) n.834A>G | |
2 | g.206767469A>T | CA350073545 | FASTKD2 | c.776A>T (p.Gln259Leu) n.834A>T | |
2 | g.206767470G>A | CA431115229 | FASTKD2 | c.777G>A (p.Gln259=) n.835G>A | |
2 | g.206767470G>C | CA350073548 | FASTKD2 | c.777G>C (p.Gln259His) n.835G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767470G= | CA1323324905 | FASTKD2 | c.777G= (p.Gln259=) n.835G= | |
2 | g.206767470G>T | CA350073550 | FASTKD2 | c.777G>T (p.Gln259His) n.835G>T | gnomAD v4 |
2 | g.206767471G>A | CA2074943 | FASTKD2 | c.777+1G>A (n.777+1G>A) n.835+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767471G>C | CA350073552 | FASTKD2 | c.777+1G>C (n.777+1G>C) n.835+1G>C | |
2 | g.206767471G= | CA1323324906 | FASTKD2 | c.777+1G= (n.777+1G=) n.835+1G= | |
2 | g.206767471G>T | CA350073554 | FASTKD2 | c.777+1G>T (n.777+1G>T) n.835+1G>T | gnomAD v4 |
2 | g.206767471_206767476delinsGTAAAA | CA1323324907 | FASTKD2 | c.777+1_777+6delinsGTAAAA (n.777+1_777+6delinsGTAAAA) n.835+1_835+6delinsGTAAAA | |
2 | g.206767472T>A | CA350073555 | FASTKD2 | c.777+2T>A (n.777+2T>A) n.835+2T>A | |
2 | g.206767472T>C | CA350073557 | FASTKD2 | c.777+2T>C (n.777+2T>C) n.835+2T>C | |
2 | g.206767472T>G | CA350073559 | FASTKD2 | c.777+2T>G (n.777+2T>G) n.835+2T>G | |
2 | g.206767477_206767481del | CA763821680 | FASTKD2 | c.777+7_777+11del (n.777+7_777+11del) n.835+7_835+11del | dbSNP |
2 | g.206767473A= | CA1323324908 | FASTKD2 | c.777+3A= (n.777+3A=) n.835+3A= | |
2 | g.206767473A>G | CA2074944 | FASTKD2 | c.777+3A>G (n.777+3A>G) n.835+3A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767476A= | CA1323324909 | FASTKD2 | c.777+6A= (n.777+6A=) n.835+6A= | |
2 | g.206767476A>G | CA2074945 | FASTKD2 | c.777+6A>G (n.777+6A>G) n.835+6A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767477T>G | CA763821685 | FASTKD2 | c.777+7T>G (n.777+7T>G) n.835+7T>G | dbSNP |
2 | g.206767477T= | CA1323324910 | FASTKD2 | c.777+7T= (n.777+7T=) n.835+7T= | |
2 | g.206767477dup | CA2074946 | FASTKD2 | c.777+7dup (n.777+7dup) n.835+7dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767478A>T | CA2577223930 | FASTKD2 | c.777+8A>T (n.777+8A>T) n.835+8A>T | |
2 | g.206767482del | CA2662829160 | FASTKD2 | c.777+12del (n.777+12del) n.835+12del | gnomAD v4 |
2 | g.206767479A>G | CA2662829161 | FASTKD2 | c.777+9A>G (n.777+9A>G) n.835+9A>G | gnomAD v4 |
2 | g.206767481_206767484delinsAAGG | CA1323324911 | FASTKD2 | c.777+11_777+14delinsAAGG (n.777+11_777+14delinsAAGG) n.835+11_835+14delinsAAGG | |
2 | g.206767482_206767483insACCAAACACACCCAACACA | CA2754013372 | FASTKD2 | c.777+12_777+13insACCAAACACACCCAACACA (n.777+12_777+13insACCAAACACACCCAACACA) n.835+12_835+13insACCAAACACACCCAACACA | |
2 | g.206767484_206767486del | CA2074947 | FASTKD2 | c.777+14_777+16del (n.777+14_777+16del) n.835+14_835+16del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767483G>T | CA2662829162 | FASTKD2 | c.777+13G>T (n.777+13G>T) n.835+13G>T | gnomAD v4 |
2 | g.206767484G>A | CA2074948 | FASTKD2 | c.777+14G>A (n.777+14G>A) n.835+14G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767484G= | CA1323324912 | FASTKD2 | c.777+14G= (n.777+14G=) n.835+14G= | |
2 | g.206767484G>T | CA2662829163 | FASTKD2 | c.777+14G>T (n.777+14G>T) n.835+14G>T | gnomAD v4 |
2 | g.206767486G>A | CA2074949 | FASTKD2 | c.777+16G>A (n.777+16G>A) n.835+16G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767486G= | CA1323324914 | FASTKD2 | c.777+16G= (n.777+16G=) n.835+16G= | |
2 | g.206767486G>T | CA1323324913 | FASTKD2 | c.777+16G>T (n.777+16G>T) n.835+16G>T | dbSNP gnomAD v4 |
2 | g.206767488T>C | CA2074950 | FASTKD2 | c.777+18T>C (n.777+18T>C) n.835+18T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767488T= | CA1323324915 | FASTKD2 | c.777+18T= (n.777+18T=) n.835+18T= | |
2 | g.206767490T>A | CA2662829164 | FASTKD2 | c.777+20T>A (n.777+20T>A) n.835+20T>A | gnomAD v4 |
2 | g.206767491A>G | CA2662829165 | FASTKD2 | c.777+21A>G (n.777+21A>G) n.835+21A>G | gnomAD v4 |
2 | g.206767494C>A | CA2662829166 | FASTKD2 | c.777+24C>A (n.777+24C>A) n.835+24C>A | gnomAD v4 |
2 | g.206767494C= | CA1323324916 | FASTKD2 | c.777+24C= (n.777+24C=) n.835+24C= | |
2 | g.206767494C>G | CA2074951 | FASTKD2 | c.777+24C>G (n.777+24C>G) n.835+24C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767494C>T | CA2074952 | FASTKD2 | c.777+24C>T (n.777+24C>T) n.835+24C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767495A= | CA1323324918 | FASTKD2 | c.777+25A= (n.777+25A=) n.835+25A= | |
2 | g.206767495A>C | CA1323324917 | FASTKD2 | c.777+25A>C (n.777+25A>C) n.835+25A>C | dbSNP |
2 | g.206767495A>G | CA2074953 | FASTKD2 | c.777+25A>G (n.777+25A>G) n.835+25A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767495A>T | CA2074955 | FASTKD2 | c.777+25A>T (n.777+25A>T) n.835+25A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767495_206767496delinsAT | CA1323324919 | FASTKD2 | c.777+25_777+26delinsAT (n.777+25_777+26delinsAT) n.835+25_835+26delinsAT | |
2 | g.206767496del | CA2074954 | FASTKD2 | c.777+26del (n.777+26del) n.835+26del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767496T>C | CA763821711 | FASTKD2 | c.777+26T>C (n.777+26T>C) n.835+26T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767496T= | CA1323324920 | FASTKD2 | c.777+26T= (n.777+26T=) n.835+26T= | |
2 | g.206767497G>A | CA2074956 | FASTKD2 | c.777+27G>A (n.777+27G>A) n.835+27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.206767497G>C | CA2754013374 | FASTKD2 | c.777+27G>C (n.777+27G>C) n.835+27G>C | |
2 | g.206767497G= | CA1323324921 | FASTKD2 | c.777+27G= (n.777+27G=) n.835+27G= | |
2 | g.206767497G>T | CA2662829167 | FASTKD2 | c.777+27G>T (n.777+27G>T) n.835+27G>T | gnomAD v4 |
2 | g.206767498C>A | CA2662829168 | FASTKD2 | c.777+28C>A (n.777+28C>A) n.835+28C>A | gnomAD v4 |
2 | g.206767499A= | CA1323324922 | FASTKD2 | c.777+29A= (n.777+29A=) n.835+29A= | |
2 | g.206767499A>G | CA2701333595 | FASTKD2 | c.777+29A>G (n.777+29A>G) n.835+29A>G | dbSNP |
2 | g.206767499A>T | CA63710520 | FASTKD2 | c.777+29A>T (n.777+29A>T) n.835+29A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767501T>C | CA2662829169 | FASTKD2 | c.777+31T>C (n.777+31T>C) n.835+31T>C | gnomAD v4 |
2 | g.206767501T>G | CA2662829170 | FASTKD2 | c.777+31T>G (n.777+31T>G) n.835+31T>G | gnomAD v4 |
2 | g.206767502T>A | CA763821716 | FASTKD2 | c.777+32T>A (n.777+32T>A) n.835+32T>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767502T= | CA1323324923 | FASTKD2 | c.777+32T= (n.777+32T=) n.835+32T= | |
2 | g.206767504C>A | CA2662829171 | FASTKD2 | c.777+34C>A (n.777+34C>A) n.835+34C>A | gnomAD v4 |
2 | g.206767504C= | CA1323324924 | FASTKD2 | c.777+34C= (n.777+34C=) n.835+34C= | |
2 | g.206767504C>T | CA2074957 | FASTKD2 | c.777+34C>T (n.777+34C>T) n.835+34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767506T>C | CA2662829172 | FASTKD2 | c.777+36T>C (n.777+36T>C) n.835+36T>C | gnomAD v4 |
2 | g.206767507G>A | CA1323324926 | FASTKD2 | c.777+37G>A (n.777+37G>A) n.835+37G>A | dbSNP |
2 | g.206767507G= | CA1323324925 | FASTKD2 | c.777+37G= (n.777+37G=) n.835+37G= | |
2 | g.206767507G>T | CA2662829173 | FASTKD2 | c.777+37G>T (n.777+37G>T) n.835+37G>T | gnomAD v4 |
2 | g.206767508A>G | CA2662829174 | FASTKD2 | c.777+38A>G (n.777+38A>G) n.835+38A>G | dbSNP gnomAD v4 |
2 | g.206767509T>G | CA539072224 | FASTKD2 | c.777+39T>G (n.777+39T>G) n.835+39T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767509T= | CA1323324927 | FASTKD2 | c.777+39T= (n.777+39T=) n.835+39T= | |
2 | g.206767510T>A | CA2074958 | FASTKD2 | c.777+40T>A (n.777+40T>A) n.835+40T>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.206767510T>C | CA2662829175 | FASTKD2 | c.777+40T>C (n.777+40T>C) n.835+40T>C | gnomAD v4 |
2 | g.206767510T>G | CA2754013376 | FASTKD2 | c.777+40T>G (n.777+40T>G) n.835+40T>G | |
2 | g.206767510T= | CA1323324928 | FASTKD2 | c.777+40T= (n.777+40T=) n.835+40T= | |
2 | g.206767517_206767529del | CA2662829176 | FASTKD2 | c.777+47_777+59del (n.777+47_777+59del) n.835+47_835+59del | gnomAD v4 |
2 | g.206767513G>A | CA2662829177 | FASTKD2 | c.777+43G>A (n.777+43G>A) n.835+43G>A | gnomAD v4 |
2 | g.206767513G>T | CA2662829178 | FASTKD2 | c.777+43G>T (n.777+43G>T) n.835+43G>T | gnomAD v4 |
2 | g.206767515A>T | CA2662829179 | FASTKD2 | c.777+45A>T (n.777+45A>T) n.835+45A>T | gnomAD v4 |
2 | g.206767517A= | CA1323324929 | FASTKD2 | c.777+47A= (n.777+47A=) n.835+47A= | |
2 | g.206767518T>C | CA2577223942 | FASTKD2 | c.777+48T>C (n.777+48T>C) n.835+48T>C | gnomAD v4 |
2 | g.206767521dup | CA539072229 | FASTKD2 | c.777+51dup (n.777+51dup) n.835+51dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.206767522G>A | CA2577223943 | FASTKD2 | c.777+52G>A (n.777+52G>A) n.835+52G>A | gnomAD v4 |
2 | g.206767523A>G | CA2662829180 | FASTKD2 | c.777+53A>G (n.777+53A>G) n.835+53A>G | gnomAD v4 |
2 | g.206767528A= | CA1323324930 | FASTKD2 | c.777+58A= (n.777+58A=) n.835+58A= | |
2 | g.206767528A>C | CA1323324931 | FASTKD2 | c.777+58A>C (n.777+58A>C) n.835+58A>C | dbSNP |
2 | g.206767529T>C | CA1041633761 | FASTKD2 | c.777+59T>C (n.777+59T>C) n.835+59T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.206767529T= | CA1323324932 | FASTKD2 | c.777+59T= (n.777+59T=) n.835+59T= | |
2 | g.206767530G>A | CA2577223944 | FASTKD2 | c.777+60G>A (n.777+60G>A) n.835+60G>A |