OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.41767515T>A | CA399501340 | JUP | c.773A>T (p.Glu258Val) c.824A>T (p.Glu275Val) | |
| 17 | g.41767515T>C | CA308561 | JUP | c.773A>G (p.Glu258Gly) c.824A>G (p.Glu275Gly) | ClinVar dbSNP |
| 17 | g.41767515T>G | CA399501347 | JUP | c.773A>C (p.Glu258Ala) c.824A>C (p.Glu275Ala) | |
| 17 | g.41767515T= | CA2260175186 | JUP | c.773A= (p.Glu258=) c.824A= (p.Glu275=) | |
| 17 | g.41767516C>A | CA399501350 | JUP | c.772G>T (p.Glu258Ter) c.823G>T (p.Glu275Ter) | |
| 17 | g.41767516C= | CA2260175187 | JUP | c.772G= (p.Glu258=) c.823G= (p.Glu275=) | |
| 17 | g.41767516C>G | CA399501353 | JUP | c.772G>C (p.Glu258Gln) c.823G>C (p.Glu275Gln) | ClinVar dbSNP |
| 17 | g.41767516C>T | CA399501357 | JUP | c.772G>A (p.Glu258Lys) c.823G>A (p.Glu275Lys) | gnomAD v4 |
| 17 | g.41767517C>A | CA399501362 | JUP | c.771G>T (p.Gln257His) c.822G>T (p.Gln274His) | |
| 17 | g.41767517C= | CA2260175188 | JUP | c.771G= (p.Gln257=) c.822G= (p.Gln274=) | |
| 17 | g.41767517C>G | CA399501366 | JUP | c.771G>C (p.Gln257His) c.822G>C (p.Gln274His) | |
| 17 | g.41767517C>T | CA500024655 | JUP | c.771G>A (p.Gln257=) c.822G>A (p.Gln274=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767518T>A | CA399501369 | JUP | c.770A>T (p.Gln257Leu) c.821A>T (p.Gln274Leu) | |
| 17 | g.41767518T>C | CA399501370 | JUP | c.770A>G (p.Gln257Arg) c.821A>G (p.Gln274Arg) | |
| 17 | g.41767518T>G | CA399501374 | JUP | c.770A>C (p.Gln257Pro) c.821A>C (p.Gln274Pro) | |
| 17 | g.41767519G>A | CA399501384 | JUP | c.769C>T (p.Gln257Ter) c.820C>T (p.Gln274Ter) | |
| 17 | g.41767519G>C | CA399501379 | JUP | c.769C>G (p.Gln257Glu) c.820C>G (p.Gln274Glu) | |
| 17 | g.41767519G= | CA2260175189 | JUP | c.769C= (p.Gln257=) c.820C= (p.Gln274=) | |
| 17 | g.41767519G>T | CA399501382 | JUP | c.769C>A (p.Gln257Lys) c.820C>A (p.Gln274Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767520G>A | CA500024662 | JUP | c.768C>T (p.Tyr256=) c.819C>T (p.Tyr273=) | |
| 17 | g.41767520G>C | CA399501388 | JUP | c.768C>G (p.Tyr256Ter) c.819C>G (p.Tyr273Ter) | |
| 17 | g.41767520G>T | CA399501389 | JUP | c.768C>A (p.Tyr256Ter) c.819C>A (p.Tyr273Ter) | |
| 17 | g.41767521T>A | CA399501390 | JUP | c.767A>T (p.Tyr256Phe) c.818A>T (p.Tyr273Phe) | |
| 17 | g.41767521T>C | CA399501391 | JUP | c.767A>G (p.Tyr256Cys) c.818A>G (p.Tyr273Cys) | |
| 17 | g.41767521T>G | CA399501392 | JUP | c.767A>C (p.Tyr256Ser) c.818A>C (p.Tyr273Ser) | |
| 17 | g.41767522A= | CA2260175190 | JUP | c.766T= (p.Tyr256=) c.817T= (p.Tyr273=) | |
| 17 | g.41767522A>C | CA399501396 | JUP | c.766T>G (p.Tyr256Asp) c.817T>G (p.Tyr273Asp) | |
| 17 | g.41767522A>G | CA399501399 | JUP | c.766T>C (p.Tyr256His) c.817T>C (p.Tyr273His) | ClinVar dbSNP |
| 17 | g.41767522A>T | CA399501402 | JUP | c.766T>A (p.Tyr256Asn) c.817T>A (p.Tyr273Asn) | |
| 17 | g.41767523del | CA2637859160 | JUP | c.765del (p.Tyr256ThrfsTer?) c.816del (p.Tyr273ThrfsTer?) | gnomAD v4 |
| 17 | g.41767523C>A | CA500024671 | JUP | c.765G>T (p.Leu255=) c.816G>T (p.Leu272=) | |
| 17 | g.41767523C= | CA2260175191 | JUP | c.765G= (p.Leu255=) c.816G= (p.Leu272=) | |
| 17 | g.41767523C>G | CA500024672 | JUP | c.765G>C (p.Leu255=) c.816G>C (p.Leu272=) | gnomAD v4 |
| 17 | g.41767523C>T | CA8565383 | JUP | c.765G>A (p.Leu255=) c.816G>A (p.Leu272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767524A= | CA2260175192 | JUP | c.764T= (p.Leu255=) c.815T= (p.Leu272=) | |
| 17 | g.41767524A>C | CA10583543 | JUP | c.764T>G (p.Leu255Arg) c.815T>G (p.Leu272Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767524A>G | CA399501412 | JUP | c.764T>C (p.Leu255Pro) c.815T>C (p.Leu272Pro) | |
| 17 | g.41767524A>T | CA399501415 | JUP | c.764T>A (p.Leu255Gln) c.815T>A (p.Leu272Gln) | |
| 17 | g.41767525G>A | CA500024677 | JUP | c.763C>T (p.Leu255=) c.814C>T (p.Leu272=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767525G>C | CA290700050 | JUP | c.763C>G (p.Leu255Val) c.814C>G (p.Leu272Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767525G= | CA2260175193 | JUP | c.763C= (p.Leu255=) c.814C= (p.Leu272=) | |
| 17 | g.41767525G>T | CA399501418 | JUP | c.763C>A (p.Leu255Met) c.814C>A (p.Leu272Met) | |
| 17 | g.41767526G>A | CA8565384 | JUP | c.762C>T (p.Leu254=) c.813C>T (p.Leu271=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767526G>C | CA500024683 | JUP | c.762C>G (p.Leu254=) c.813C>G (p.Leu271=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767526G= | CA2260175194 | JUP | c.762C= (p.Leu254=) c.813C= (p.Leu271=) | |
| 17 | g.41767526G>T | CA500024682 | JUP | c.762C>A (p.Leu254=) c.813C>A (p.Leu271=) | |
| 17 | g.41767527A>C | CA399501426 | JUP | c.761T>G (p.Leu254Arg) c.812T>G (p.Leu271Arg) | |
| 17 | g.41767527A>G | CA399501432 | JUP | c.761T>C (p.Leu254Pro) c.812T>C (p.Leu271Pro) | |
| 17 | g.41767527A>T | CA399501435 | JUP | c.761T>A (p.Leu254His) c.812T>A (p.Leu271His) | |
| 17 | g.41767528G>A | CA399501438 | JUP | c.760C>T (p.Leu254Phe) c.811C>T (p.Leu271Phe) | gnomAD v4 |
| 17 | g.41767528G>C | CA399501440 | JUP | c.760C>G (p.Leu254Val) c.811C>G (p.Leu271Val) | |
| 17 | g.41767528G>T | CA399501444 | JUP | c.760C>A (p.Leu254Ile) c.811C>A (p.Leu271Ile) | |
| 17 | g.41767529C>A | CA500024693 | JUP | c.759G>T (p.Leu253=) c.810G>T (p.Leu270=) | |
| 17 | g.41767529C>G | CA500024690 | JUP | c.759G>C (p.Leu253=) c.810G>C (p.Leu270=) | |
| 17 | g.41767529C>T | CA500024692 | JUP | c.759G>A (p.Leu253=) c.810G>A (p.Leu270=) | |
| 17 | g.41767530A>C | CA399501450 | JUP | c.758T>G (p.Leu253Arg) c.809T>G (p.Leu270Arg) | |
| 17 | g.41767530A>G | CA399501459 | JUP | c.758T>C (p.Leu253Pro) c.809T>C (p.Leu270Pro) | |
| 17 | g.41767530A>T | CA399501455 | JUP | c.758T>A (p.Leu253Gln) c.809T>A (p.Leu270Gln) | |
| 17 | g.41767531G>A | CA500024696 | JUP | c.757C>T (p.Leu253=) c.808C>T (p.Leu270=) | |
| 17 | g.41767531G>C | CA399501471 | JUP | c.757C>G (p.Leu253Val) c.808C>G (p.Leu270Val) | |
| 17 | g.41767531G>T | CA399501474 | JUP | c.757C>A (p.Leu253Met) c.808C>A (p.Leu270Met) | |
| 17 | g.41767532G>A | CA500024700 | JUP | c.756C>T (p.Asn252=) c.807C>T (p.Asn269=) | |
| 17 | g.41767532G>C | CA399501486 | JUP | c.756C>G (p.Asn252Lys) c.807C>G (p.Asn269Lys) | |
| 17 | g.41767532G>T | CA399501490 | JUP | c.756C>A (p.Asn252Lys) c.807C>A (p.Asn269Lys) | |
| 17 | g.41767533T>A | CA399501500 | JUP | c.755A>T (p.Asn252Ile) c.806A>T (p.Asn269Ile) | |
| 17 | g.41767533T>C | CA399501493 | JUP | c.755A>G (p.Asn252Ser) c.806A>G (p.Asn269Ser) | |
| 17 | g.41767533T>G | CA399501499 | JUP | c.755A>C (p.Asn252Thr) c.806A>C (p.Asn269Thr) | |
| 17 | g.41767534T>A | CA399501502 | JUP | c.754A>T (p.Asn252Tyr) c.805A>T (p.Asn269Tyr) | |
| 17 | g.41767534T>C | CA399501505 | JUP | c.754A>G (p.Asn252Asp) c.805A>G (p.Asn269Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767534T>G | CA399501508 | JUP | c.754A>C (p.Asn252His) c.805A>C (p.Asn269His) | |
| 17 | g.41767534T= | CA2260175195 | JUP | c.754A= (p.Asn252=) c.805A= (p.Asn269=) | |
| 17 | g.41767535G>A | CA8565385 | JUP | c.753C>T (p.His251=) c.804C>T (p.His268=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767535G>C | CA399501514 | JUP | c.753C>G (p.His251Gln) c.804C>G (p.His268Gln) | gnomAD v4 |
| 17 | g.41767535G= | CA2260175196 | JUP | c.753C= (p.His251=) c.804C= (p.His268=) | |
| 17 | g.41767535G>T | CA399501515 | JUP | c.753C>A (p.His251Gln) c.804C>A (p.His268Gln) | |
| 17 | g.41767536T>A | CA399501518 | JUP | c.752A>T (p.His251Leu) c.803A>T (p.His268Leu) | |
| 17 | g.41767536T>C | CA399501521 | JUP | c.752A>G (p.His251Arg) c.803A>G (p.His268Arg) | |
| 17 | g.41767536T>G | CA399501522 | JUP | c.752A>C (p.His251Pro) c.803A>C (p.His268Pro) | |
| 17 | g.41767537G>A | CA399501525 | JUP | c.751C>T (p.His251Tyr) c.802C>T (p.His268Tyr) | ClinVar dbSNP |
| 17 | g.41767537G>C | CA399501527 | JUP | c.751C>G (p.His251Asp) c.802C>G (p.His268Asp) | |
| 17 | g.41767537G= | CA2260175197 | JUP | c.751C= (p.His251=) c.802C= (p.His268=) | |
| 17 | g.41767537G>T | CA399501530 | JUP | c.751C>A (p.His251Asn) c.802C>A (p.His268Asn) | |
| 17 | g.41767538C>A | CA500024714 | JUP | c.750G>T (p.Leu250=) c.801G>T (p.Leu267=) | |
| 17 | g.41767538C= | CA2260175198 | JUP | c.750G= (p.Leu250=) c.801G= (p.Leu267=) | |
| 17 | g.41767538C>G | CA500024716 | JUP | c.750G>C (p.Leu250=) c.801G>C (p.Leu267=) | |
| 17 | g.41767538C>T | CA290700055 | JUP | c.750G>A (p.Leu250=) c.801G>A (p.Leu267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767539A>C | CA399501536 | JUP | c.749T>G (p.Leu250Arg) c.800T>G (p.Leu267Arg) | |
| 17 | g.41767539A>G | CA399501542 | JUP | c.749T>C (p.Leu250Pro) c.800T>C (p.Leu267Pro) | COSMIC |
| 17 | g.41767539A>T | CA399501539 | JUP | c.749T>A (p.Leu250Gln) c.800T>A (p.Leu267Gln) | |
| 17 | g.41767540G>A | CA8565386 | JUP | c.748C>T (p.Leu250=) c.799C>T (p.Leu267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767540G>C | CA399501556 | JUP | c.748C>G (p.Leu250Val) c.799C>G (p.Leu267Val) | |
| 17 | g.41767540G= | CA2260175199 | JUP | c.748C= (p.Leu250=) c.799C= (p.Leu267=) | |
| 17 | g.41767540G>T | CA399501554 | JUP | c.748C>A (p.Leu250Met) c.799C>A (p.Leu267Met) | |
| 17 | g.41767541C>A | CA500024725 | JUP | c.747G>T (p.Thr249=) c.798G>T (p.Thr266=) | |
| 17 | g.41767541C= | CA2260175200 | JUP | c.747G= (p.Thr249=) c.798G= (p.Thr266=) | |
| 17 | g.41767541C>G | CA500024726 | JUP | c.747G>C (p.Thr249=) c.798G>C (p.Thr266=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767541C>T | CA500024727 | JUP | c.747G>A (p.Thr249=) c.798G>A (p.Thr266=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767542G>A | CA237225 | JUP | c.746C>T (p.Thr249Met) c.797C>T (p.Thr266Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767542G>C | CA399501560 | JUP | c.746C>G (p.Thr249Arg) c.797C>G (p.Thr266Arg) | dbSNP |
| 17 | g.41767542G= | CA2260175201 | JUP | c.746C= (p.Thr249=) c.797C= (p.Thr266=) | |
| 17 | g.41767542G>T | CA399501563 | JUP | c.746C>A (p.Thr249Lys) c.797C>A (p.Thr266Lys) | |
| 17 | g.41767543T>A | CA399501564 | JUP | c.745A>T (p.Thr249Ser) c.796A>T (p.Thr266Ser) | |
| 17 | g.41767543T>C | CA399501565 | JUP | c.745A>G (p.Thr249Ala) c.796A>G (p.Thr266Ala) | |
| 17 | g.41767543T>G | CA399501566 | JUP | c.745A>C (p.Thr249Pro) c.796A>C (p.Thr266Pro) | ClinVar dbSNP |
| 17 | g.41767544G>A | CA500024733 | JUP | c.744C>T (p.Thr248=) c.795C>T (p.Thr265=) | |
| 17 | g.41767544G>C | CA500024735 | JUP | c.744C>G (p.Thr248=) c.795C>G (p.Thr265=) | |
| 17 | g.41767544G>T | CA500024736 | JUP | c.744C>A (p.Thr248=) c.795C>A (p.Thr265=) | |
| 17 | g.41767545G>A | CA399501569 | JUP | c.743C>T (p.Thr248Ile) c.794C>T (p.Thr265Ile) | |
| 17 | g.41767545G>C | CA399501570 | JUP | c.743C>G (p.Thr248Ser) c.794C>G (p.Thr265Ser) | |
| 17 | g.41767545G>T | CA399501573 | JUP | c.743C>A (p.Thr248Asn) c.794C>A (p.Thr265Asn) | ClinVar |
| 17 | g.41767546T>A | CA399501579 | JUP | c.742A>T (p.Thr248Ser) c.793A>T (p.Thr265Ser) | |
| 17 | g.41767546T>C | CA399501582 | JUP | c.742A>G (p.Thr248Ala) c.793A>G (p.Thr265Ala) | gnomAD v4 |
| 17 | g.41767546T>G | CA399501585 | JUP | c.742A>C (p.Thr248Pro) c.793A>C (p.Thr265Pro) | |
| 17 | g.41767547G>A | CA500024743 | JUP | c.741C>T (p.Ile247=) c.792C>T (p.Ile264=) | |
| 17 | g.41767547G>C | CA399501588 | JUP | c.741C>G (p.Ile247Met) c.792C>G (p.Ile264Met) | |
| 17 | g.41767547G>T | CA500024745 | JUP | c.741C>A (p.Ile247=) c.792C>A (p.Ile264=) | |
| 17 | g.41767548A>C | CA399501593 | JUP | c.740T>G (p.Ile247Ser) c.791T>G (p.Ile264Ser) | |
| 17 | g.41767548A>G | CA399501601 | JUP | c.740T>C (p.Ile247Thr) c.791T>C (p.Ile264Thr) | |
| 17 | g.41767548A>T | CA399501603 | JUP | c.740T>A (p.Ile247Asn) c.791T>A (p.Ile264Asn) | gnomAD v4 |
| 17 | g.41767549T>A | CA399501607 | JUP | c.739A>T (p.Ile247Phe) c.790A>T (p.Ile264Phe) | |
| 17 | g.41767549T>C | CA8565387 | JUP | c.739A>G (p.Ile247Val) c.790A>G (p.Ile264Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.41767549T>G | CA399501613 | JUP | c.739A>C (p.Ile247Leu) c.790A>C (p.Ile264Leu) | gnomAD v4 |
| 17 | g.41767549T= | CA2260175202 | JUP | c.739A= (p.Ile247=) c.790A= (p.Ile264=) | |
| 17 | g.41767550G>A | CA500024753 | JUP | c.738C>T (p.Ala246=) c.789C>T (p.Ala263=) | COSMIC |
| 17 | g.41767550G>C | CA500024757 | JUP | c.738C>G (p.Ala246=) c.789C>G (p.Ala263=) | |
| 17 | g.41767550G>T | CA500024755 | JUP | c.738C>A (p.Ala246=) c.789C>A (p.Ala263=) | |
| 17 | g.41767551G>A | CA399501622 | JUP | c.737C>T (p.Ala246Val) c.788C>T (p.Ala263Val) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767551G>C | CA399501625 | JUP | c.737C>G (p.Ala246Gly) c.788C>G (p.Ala263Gly) | |
| 17 | g.41767551G= | CA2260175203 | JUP | c.737C= (p.Ala246=) c.788C= (p.Ala263=) | |
| 17 | g.41767551G>T | CA399501626 | JUP | c.737C>A (p.Ala246Asp) c.788C>A (p.Ala263Asp) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767552C>A | CA399501628 | JUP | c.736G>T (p.Ala246Ser) c.787G>T (p.Ala263Ser) | gnomAD v4 |
| 17 | g.41767552C>G | CA399501629 | JUP | c.736G>C (p.Ala246Pro) c.787G>C (p.Ala263Pro) | |
| 17 | g.41767552C>T | CA399501630 | JUP | c.736G>A (p.Ala246Thr) c.787G>A (p.Ala263Thr) | |
| 17 | g.41767553A>C | CA399501634 | JUP | c.735T>G (p.Tyr245Ter) c.786T>G (p.Tyr262Ter) | |
| 17 | g.41767553A>G | CA500024761 | JUP | c.735T>C (p.Tyr245=) c.786T>C (p.Tyr262=) | |
| 17 | g.41767553A>T | CA399501636 | JUP | c.735T>A (p.Tyr245Ter) c.786T>A (p.Tyr262Ter) | |
| 17 | g.41767554T>A | CA399501640 | JUP | c.734A>T (p.Tyr245Phe) c.785A>T (p.Tyr262Phe) | |
| 17 | g.41767554T>C | CA399501649 | JUP | c.734A>G (p.Tyr245Cys) c.785A>G (p.Tyr262Cys) | |
| 17 | g.41767554T>G | CA399501645 | JUP | c.734A>C (p.Tyr245Ser) c.785A>C (p.Tyr262Ser) | |
| 17 | g.41767555A>C | CA399501654 | JUP | c.733T>G (p.Tyr245Asp) c.784T>G (p.Tyr262Asp) | |
| 17 | g.41767555A>G | CA399501656 | JUP | c.733T>C (p.Tyr245His) c.784T>C (p.Tyr262His) | gnomAD v4 |
| 17 | g.41767555A>T | CA399501659 | JUP | c.733T>A (p.Tyr245Asn) c.784T>A (p.Tyr262Asn) | |
| 17 | g.41767556G>A | CA500024771 | JUP | c.732C>T (p.Phe244=) c.783C>T (p.Phe261=) | |
| 17 | g.41767556G>C | CA399501663 | JUP | c.732C>G (p.Phe244Leu) c.783C>G (p.Phe261Leu) | |
| 17 | g.41767556G>T | CA399501666 | JUP | c.732C>A (p.Phe244Leu) c.783C>A (p.Phe261Leu) | gnomAD v4 |
| 17 | g.41767557A= | CA2260175204 | JUP | c.731T= (p.Phe244=) c.782T= (p.Phe261=) | |
| 17 | g.41767557A>C | CA399501670 | JUP | c.731T>G (p.Phe244Cys) c.782T>G (p.Phe261Cys) | |
| 17 | g.41767557A>G | CA399501682 | JUP | c.731T>C (p.Phe244Ser) c.782T>C (p.Phe261Ser) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767557A>T | CA399501686 | JUP | c.731T>A (p.Phe244Tyr) c.782T>A (p.Phe261Tyr) | |
| 17 | g.41767558del | CA2637859184 | JUP | c.731del (p.Phe244SerfsTer?) c.782del (p.Phe261SerfsTer?) | gnomAD v4 |
| 17 | g.41767558A>C | CA399501690 | JUP | c.730T>G (p.Phe244Val) c.781T>G (p.Phe261Val) | gnomAD v4 |
| 17 | g.41767558A>G | CA399501692 | JUP | c.730T>C (p.Phe244Leu) c.781T>C (p.Phe261Leu) | |
| 17 | g.41767558A>T | CA399501694 | JUP | c.730T>A (p.Phe244Ile) c.781T>A (p.Phe261Ile) | |
| 17 | g.41767559C>A | CA500024782 | JUP | c.729G>T (p.Leu243=) c.780G>T (p.Leu260=) | |
| 17 | g.41767559C>G | CA500024783 | JUP | c.729G>C (p.Leu243=) c.780G>C (p.Leu260=) | ClinVar |
| 17 | g.41767559C>T | CA500024785 | JUP | c.729G>A (p.Leu243=) c.780G>A (p.Leu260=) | ClinVar dbSNP |
| 17 | g.41767560A= | CA2260175205 | JUP | c.728T= (p.Leu243=) c.779T= (p.Leu260=) | |
| 17 | g.41767560A>C | CA399501702 | JUP | c.728T>G (p.Leu243Arg) c.779T>G (p.Leu260Arg) | gnomAD v4 |
| 17 | g.41767560A>G | CA399501699 | JUP | c.728T>C (p.Leu243Pro) c.779T>C (p.Leu260Pro) | dbSNP |
| 17 | g.41767560A>T | CA399501696 | JUP | c.728T>A (p.Leu243Gln) c.779T>A (p.Leu260Gln) | gnomAD v4 |
| 17 | g.41767562_41767603del | CA2637859187 | JUP | c.708-21_728del c.759-21_779del | gnomAD v4 |
| 17 | g.41767561G>A | CA500024786 | JUP | c.727C>T (p.Leu243=) c.778C>T (p.Leu260=) | |
| 17 | g.41767561G>C | CA399501703 | JUP | c.727C>G (p.Leu243Val) c.778C>G (p.Leu260Val) | |
| 17 | g.41767561G>T | CA399501704 | JUP | c.727C>A (p.Leu243Met) c.778C>A (p.Leu260Met) | gnomAD v4 |
| 17 | g.41767562G>A | CA500024788 | JUP | c.726C>T (p.Val242=) c.777C>T (p.Val259=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767562G>C | CA500024790 | JUP | c.726C>G (p.Val242=) c.777C>G (p.Val259=) | gnomAD v4 |
| 17 | g.41767562G>T | CA500024792 | JUP | c.726C>A (p.Val242=) c.777C>A (p.Val259=) | gnomAD v4 |
| 17 | g.41767565_41767568del | CA2637859192 | JUP | c.723_726del (p.Val242CysfsTer?) c.774_777del (p.Val259CysfsTer?) | gnomAD v4 |
| 17 | g.41767563A>C | CA399501705 | JUP | c.725T>G (p.Val242Gly) c.776T>G (p.Val259Gly) | gnomAD v4 |
| 17 | g.41767563A>G | CA399501707 | JUP | c.725T>C (p.Val242Ala) c.776T>C (p.Val259Ala) | |
| 17 | g.41767563A>T | CA399501712 | JUP | c.725T>A (p.Val242Asp) c.776T>A (p.Val259Asp) | |
| 17 | g.41767564C>A | CA399501723 | JUP | c.724G>T (p.Val242Phe) c.775G>T (p.Val259Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767564C= | CA2260175206 | JUP | c.724G= (p.Val242=) c.775G= (p.Val259=) | |
| 17 | g.41767564C>G | CA399501724 | JUP | c.724G>C (p.Val242Leu) c.775G>C (p.Val259Leu) | |
| 17 | g.41767564C>T | CA399501725 | JUP | c.724G>A (p.Val242Ile) c.775G>A (p.Val259Ile) | gnomAD v4 COSMIC |
| 17 | g.41767565C>A | CA500024801 | JUP | c.723G>T (p.Ser241=) c.774G>T (p.Ser258=) | |
| 17 | g.41767565C= | CA2260175207 | JUP | c.723G= (p.Ser241=) c.774G= (p.Ser258=) | |
| 17 | g.41767565C>G | CA500024799 | JUP | c.723G>C (p.Ser241=) c.774G>C (p.Ser258=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767565C>T | CA8565388 | JUP | c.723G>A (p.Ser241=) c.774G>A (p.Ser258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767566G>A | CA8565389 | JUP | c.722C>T (p.Ser241Leu) c.773C>T (p.Ser258Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767566G>C | CA399501731 | JUP | c.722C>G (p.Ser241Trp) c.773C>G (p.Ser258Trp) | |
| 17 | g.41767566G= | CA2260175208 | JUP | c.722C= (p.Ser241=) c.773C= (p.Ser258=) | |
| 17 | g.41767566G>T | CA399501734 | JUP | c.722C>A (p.Ser241Ter) c.773C>A (p.Ser258Ter) | gnomAD v4 |
| 17 | g.41767567A= | CA2260175209 | JUP | c.721T= (p.Ser241=) c.772T= (p.Ser258=) | |
| 17 | g.41767567A>C | CA399501739 | JUP | c.721T>G (p.Ser241Ala) c.772T>G (p.Ser258Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767567A>G | CA399501745 | JUP | c.721T>C (p.Ser241Pro) c.772T>C (p.Ser258Pro) | |
| 17 | g.41767567A>T | CA399501742 | JUP | c.721T>A (p.Ser241Thr) c.772T>A (p.Ser258Thr) | |
| 17 | g.41767568C>A | CA399501750 | JUP | c.720G>T (p.Glu240Asp) c.771G>T (p.Glu257Asp) | |
| 17 | g.41767568C>G | CA399501752 | JUP | c.720G>C (p.Glu240Asp) c.771G>C (p.Glu257Asp) | |
| 17 | g.41767568C>T | CA500024810 | JUP | c.720G>A (p.Glu240=) c.771G>A (p.Glu257=) | |
| 17 | g.41767569T>A | CA399501756 | JUP | c.719A>T (p.Glu240Val) c.770A>T (p.Glu257Val) | gnomAD v4 |
| 17 | g.41767569T>C | CA399501758 | JUP | c.719A>G (p.Glu240Gly) c.770A>G (p.Glu257Gly) | gnomAD v4 |
| 17 | g.41767569T>G | CA399501763 | JUP | c.719A>C (p.Glu240Ala) c.770A>C (p.Glu257Ala) | gnomAD v4 |
| 17 | g.41767570C>A | CA399501769 | JUP | c.718G>T (p.Glu240Ter) c.769G>T (p.Glu257Ter) | |
| 17 | g.41767570C>G | CA399501772 | JUP | c.718G>C (p.Glu240Gln) c.769G>C (p.Glu257Gln) | |
| 17 | g.41767570C>T | CA399501779 | JUP | c.718G>A (p.Glu240Lys) c.769G>A (p.Glu257Lys) | |
| 17 | g.41767571del | CA2637859215 | JUP | c.718del (p.Glu240SerfsTer?) c.769del (p.Glu257SerfsTer?) | gnomAD v4 |
| 17 | g.41767571C>A | CA500024818 | JUP | c.717G>T (p.Val239=) c.768G>T (p.Val256=) | gnomAD v4 |
| 17 | g.41767571C>G | CA500024819 | JUP | c.717G>C (p.Val239=) c.768G>C (p.Val256=) | ClinVar |
| 17 | g.41767571C>T | CA500024820 | JUP | c.717G>A (p.Val239=) c.768G>A (p.Val256=) | |
| 17 | g.41767572A>C | CA399501805 | JUP | c.716T>G (p.Val239Gly) c.767T>G (p.Val256Gly) | gnomAD v4 |
| 17 | g.41767572A>G | CA399501792 | JUP | c.716T>C (p.Val239Ala) c.767T>C (p.Val256Ala) | ClinVar |
| 17 | g.41767572A>T | CA399501788 | JUP | c.716T>A (p.Val239Glu) c.767T>A (p.Val256Glu) | |
| 17 | g.41767573C>A | CA399501809 | JUP | c.715G>T (p.Val239Leu) c.766G>T (p.Val256Leu) | |
| 17 | g.41767573C>G | CA399501813 | JUP | c.715G>C (p.Val239Leu) c.766G>C (p.Val256Leu) | |
| 17 | g.41767573C>T | CA399501817 | JUP | c.715G>A (p.Val239Met) c.766G>A (p.Val256Met) | COSMIC |
| 17 | g.41767574del | CA2637859230 | JUP | c.714del (p.Val239TrpfsTer?) c.765del (p.Val256TrpfsTer?) | gnomAD v4 |
| 17 | g.41767574A>C | CA500024828 | JUP | c.714T>G (p.Pro238=) c.765T>G (p.Pro255=) | gnomAD v4 |
| 17 | g.41767574A>G | CA500024832 | JUP | c.714T>C (p.Pro238=) c.765T>C (p.Pro255=) | gnomAD v3 gnomAD v4 |
| 17 | g.41767574A>T | CA500024830 | JUP | c.714T>A (p.Pro238=) c.765T>A (p.Pro255=) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767575G>A | CA399501822 | JUP | c.713C>T (p.Pro238Leu) c.764C>T (p.Pro255Leu) | |
| 17 | g.41767575G>C | CA399501826 | JUP | c.713C>G (p.Pro238Arg) c.764C>G (p.Pro255Arg) | |
| 17 | g.41767575G>T | CA399501830 | JUP | c.713C>A (p.Pro238His) c.764C>A (p.Pro255His) | gnomAD v4 |
| 17 | g.41767578del | CA2637859231 | JUP | c.713del (p.Pro238LeufsTer?) c.764del (p.Pro255LeufsTer?) | gnomAD v4 |
| 17 | g.41767576G>A | CA399501842 | JUP | c.712C>T (p.Pro238Ser) c.763C>T (p.Pro255Ser) | COSMIC |
| 17 | g.41767576G>C | CA399501848 | JUP | c.712C>G (p.Pro238Ala) c.763C>G (p.Pro255Ala) | |
| 17 | g.41767576G>T | CA399501845 | JUP | c.712C>A (p.Pro238Thr) c.763C>A (p.Pro255Thr) | gnomAD v4 |
| 17 | g.41767577G>A | CA500024842 | JUP | c.711C>T (p.Ser237=) c.762C>T (p.Ser254=) | COSMIC |
| 17 | g.41767577G>C | CA500024839 | JUP | c.711C>G (p.Ser237=) c.762C>G (p.Ser254=) | |
| 17 | g.41767577G>T | CA500024841 | JUP | c.711C>A (p.Ser237=) c.762C>A (p.Ser254=) | gnomAD v4 |
| 17 | g.41767577_41767578insTC | CA2637859239 | JUP | c.710_711insGA (p.Pro238ThrfsTer?) c.761_762insGA (p.Pro255ThrfsTer?) | gnomAD v4 |
| 17 | g.41767577_41767578insTT | CA2637859240 | JUP | c.710_711insAA (p.Pro238ThrfsTer?) c.761_762insAA (p.Pro255ThrfsTer?) | gnomAD v4 |
| 17 | g.41767578G>A | CA399501855 | JUP | c.710C>T (p.Ser237Phe) c.761C>T (p.Ser254Phe) | |
| 17 | g.41767578G>C | CA399501857 | JUP | c.710C>G (p.Ser237Cys) c.761C>G (p.Ser254Cys) | |
| 17 | g.41767578G>T | CA399501859 | JUP | c.710C>A (p.Ser237Tyr) c.761C>A (p.Ser254Tyr) | gnomAD v4 |
| 17 | g.41767579A>C | CA399501862 | JUP | c.709T>G (p.Ser237Ala) c.760T>G (p.Ser254Ala) | gnomAD v4 |
| 17 | g.41767579A>G | CA399501865 | JUP | c.709T>C (p.Ser237Pro) c.760T>C (p.Ser254Pro) | gnomAD v3 gnomAD v4 |
| 17 | g.41767579A>T | CA399501869 | JUP | c.709T>A (p.Ser237Thr) c.760T>A (p.Ser254Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767579_41767581del | CA2637859245 | JUP | c.708-1_709del c.759-1_760del | gnomAD v4 |
| 17 | g.41767580G>A | CA500024848 | JUP | c.708C>T (p.Ser236=) c.759C>T (p.Ser253=) | |
| 17 | g.41767580G>C | CA399501874 | JUP | c.708C>G (p.Ser236Arg) c.759C>G (p.Ser253Arg) | |
| 17 | g.41767580G>T | CA399501884 | JUP | c.708C>A (p.Ser236Arg) c.759C>A (p.Ser253Arg) | gnomAD v4 |
| 17 | g.41767581del | CA2637859252 | JUP | c.708-1del (n.708-1del) c.759-1del (n.759-1del) | gnomAD v4 |
| 17 | g.41767581C>A | CA399501888 | JUP | c.708-1G>T (n.708-1G>T) c.759-1G>T (n.759-1G>T) | |
| 17 | g.41767581C>G | CA399501890 | JUP | c.708-1G>C (n.708-1G>C) c.759-1G>C (n.759-1G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767581C>T | CA399501891 | JUP | c.708-1G>A (n.708-1G>A) c.759-1G>A (n.759-1G>A) | gnomAD v4 |
| 17 | g.41767581_41767582del | CA2637859253 | JUP | c.708-2_708-1del (n.708-2_708-1del) c.759-2_759-1del (n.759-2_759-1del) | gnomAD v4 |
| 17 | g.41767581_41767582insG | CA2809501662 | JUP | c.708-2_708-1insC (n.708-2_708-1insC) c.759-2_759-1insC (n.759-2_759-1insC) | |
| 17 | g.41767581_41767582insGG | CA2637859254 | JUP | c.708-2_708-1insCC (n.708-2_708-1insCC) c.759-2_759-1insCC (n.759-2_759-1insCC) | gnomAD v4 |
| 17 | g.41767582T>A | CA399501894 | JUP | c.708-2A>T (n.708-2A>T) c.759-2A>T (n.759-2A>T) | |
| 17 | g.41767582T>C | CA399501897 | JUP | c.708-2A>G (n.708-2A>G) c.759-2A>G (n.759-2A>G) | dbSNP gnomAD v4 |
| 17 | g.41767582T>G | CA399501895 | JUP | c.708-2A>C (n.708-2A>C) c.759-2A>C (n.759-2A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767582T= | CA2260175211 | JUP | c.708-2A= (n.708-2A=) c.759-2A= (n.759-2A=) | |
| 17 | g.41767582_41767583delinsTG | CA2260175210 | JUP | c.708-3_708-2delinsCA (n.708-3_708-2delinsCA) c.759-3_759-2delinsCA (n.759-3_759-2delinsCA) | |
| 17 | g.41767582_41767583insTGGG | CA2637859268 | JUP | c.708-3_708-2insCCCA (n.708-3_708-2insCCCA) c.759-3_759-2insCCCA (n.759-3_759-2insCCCA) | gnomAD v4 |
| 17 | g.41767583G>A | CA2637859261 | JUP | c.708-3C>T (n.708-3C>T) c.759-3C>T (n.759-3C>T) | gnomAD v4 |
| 17 | g.41767583G= | CA2260175212 | JUP | c.708-3C= (n.708-3C=) c.759-3C= (n.759-3C=) | |
| 17 | g.41767583G>T | CA626216184 | JUP | c.708-3C>A (n.708-3C>A) c.759-3C>A (n.759-3C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767588_41767589insTTGGGGGGGGG | CA2809501664 | JUP | c.708-3_708-2insCCCAACCCCCC (n.708-3_708-2insCCCAACCCCCC) c.759-3_759-2insCCCAACCCCCC (n.759-3_759-2insCCCAACCCCCC) | |
| 17 | g.41767589_41767590insGGGGGGGG | CA2637859272 | JUP | c.708-3_708-2insCCCCCCCC (n.708-3_708-2insCCCCCCCC) c.759-3_759-2insCCCCCCCC (n.759-3_759-2insCCCCCCCC) | gnomAD v4 |
| 17 | g.41767589_41767590insGGGGGGGAGGGGGGGGGG | CA2809501663 | JUP | c.708-3_708-2insCCCTCCCCCCCCCCCCCC (n.708-3_708-2insCCCTCCCCCCCCCCCCCC) c.759-3_759-2insCCCTCCCCCCCCCCCCCC (n.759-3_759-2insCCCTCCCCCCCCCCCCCC) | |
| 17 | g.41767589dup | CA8565390 | JUP | c.708-3dup (n.708-3dup) c.759-3dup (n.759-3dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767588_41767589dup | CA2637859275 | JUP | c.708-4_708-3dup (n.708-4_708-3dup) c.759-4_759-3dup (n.759-4_759-3dup) | gnomAD v4 |
| 17 | g.41767587_41767589dup | CA2637859274 | JUP | c.708-5_708-3dup (n.708-5_708-3dup) c.759-5_759-3dup (n.759-5_759-3dup) | gnomAD v4 |
| 17 | g.41767586_41767589dup | CA2637859273 | JUP | c.708-6_708-3dup (n.708-6_708-3dup) c.759-6_759-3dup (n.759-6_759-3dup) | gnomAD v4 |
| 17 | g.41767589del | CA8565391 | JUP | c.708-3del (n.708-3del) c.759-3del (n.759-3del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.41767588_41767589del | CA2637859265 | JUP | c.708-4_708-3del (n.708-4_708-3del) c.759-4_759-3del (n.759-4_759-3del) | gnomAD v4 |
| 17 | g.41767587_41767589del | CA2637859264 | JUP | c.708-5_708-3del (n.708-5_708-3del) c.759-5_759-3del (n.759-5_759-3del) | gnomAD v4 |
| 17 | g.41767586_41767589del | CA2637859263 | JUP | c.708-6_708-3del (n.708-6_708-3del) c.759-6_759-3del (n.759-6_759-3del) | gnomAD v4 |
| 17 | g.41767583_41767593dup | CA2637859271 | JUP | c.708-13_708-3dup (n.708-13_708-3dup) c.759-13_759-3dup (n.759-13_759-3dup) | gnomAD v4 |
| 17 | g.41767587_41767599del | CA2576268952 | JUP | c.708-15_708-3del (n.708-15_708-3del) c.759-15_759-3del (n.759-15_759-3del) | gnomAD v4 |
| 17 | g.41767583_41767584insAGCATGCGGACCAGAGCA | CA2733741592 | JUP | c.708-4_708-3insTGCTCTGGTCCGCATGCT (n.708-4_708-3insTGCTCTGGTCCGCATGCT) c.759-4_759-3insTGCTCTGGTCCGCATGCT (n.759-4_759-3insTGCTCTGGTCCGCATGCT) | dbSNP |
| 17 | g.41767584G>A | CA772068788 | JUP | c.708-4C>T (n.708-4C>T) c.759-4C>T (n.759-4C>T) | dbSNP gnomAD v4 |
| 17 | g.41767584G>C | CA137233 | JUP | c.708-4C>G (n.708-4C>G) c.759-4C>G (n.759-4C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767584G= | CA2260175213 | JUP | c.708-4C= (n.708-4C=) c.759-4C= (n.759-4C=) | |
| 17 | g.41767584G>T | CA2576268953 | JUP | c.708-4C>A (n.708-4C>A) c.759-4C>A (n.759-4C>A) | gnomAD v4 |
| 17 | g.41767588_41767599del | CA2637859284 | JUP | c.708-15_708-4del (n.708-15_708-4del) c.759-15_759-4del (n.759-15_759-4del) | gnomAD v4 |
| 17 | g.41767585G>T | CA2637859287 | JUP | c.708-5C>A (n.708-5C>A) c.759-5C>A (n.759-5C>A) | gnomAD v4 |
| 17 | g.41767586G>A | CA8565392 | JUP | c.708-6C>T (n.708-6C>T) c.759-6C>T (n.759-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767586G= | CA2260175214 | JUP | c.708-6C= (n.708-6C=) c.759-6C= (n.759-6C=) | |
| 17 | g.41767586G>T | CA983788073 | JUP | c.708-6C>A (n.708-6C>A) c.759-6C>A (n.759-6C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767586_41767587insATGCCACCCGACTTGAAGATGGC | CA2733741631 | JUP | c.708-7_708-6insGCCATCTTCAAGTCGGGTGGCAT (n.708-7_708-6insGCCATCTTCAAGTCGGGTGGCAT) c.759-7_759-6insGCCATCTTCAAGTCGGGTGGCAT (n.759-7_759-6insGCCATCTTCAAGTCGGGTGGCAT) | dbSNP |
| 17 | g.41767587G>A | CA137234 | JUP | c.708-7C>T (n.708-7C>T) c.759-7C>T (n.759-7C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767587G= | CA2260175215 | JUP | c.708-7C= (n.708-7C=) c.759-7C= (n.759-7C=) | |
| 17 | g.41767587G>T | CA2576268954 | JUP | c.708-7C>A (n.708-7C>A) c.759-7C>A (n.759-7C>A) | gnomAD v4 |
| 17 | g.41767590_41767593del | CA2637859294 | JUP | c.708-10_708-7del (n.708-10_708-7del) c.759-10_759-7del (n.759-10_759-7del) | gnomAD v4 |
| 17 | g.41767587_41767588insA | CA2637859300 | JUP | c.708-8_708-7insT (n.708-8_708-7insT) c.759-8_759-7insT (n.759-8_759-7insT) | gnomAD v4 |
| 17 | g.41767588G>A | CA2580093883 | JUP | c.708-8C>T (n.708-8C>T) c.759-8C>T (n.759-8C>T) | ClinVar gnomAD v4 |
| 17 | g.41767588G>C | CA2637859302 | JUP | c.708-8C>G (n.708-8C>G) c.759-8C>G (n.759-8C>G) | gnomAD v4 |
| 17 | g.41767588G>T | CA2576268955 | JUP | c.708-8C>A (n.708-8C>A) c.759-8C>A (n.759-8C>A) | gnomAD v4 |
| 17 | g.41767589G>A | CA2260175217 | JUP | c.708-9C>T (n.708-9C>T) c.759-9C>T (n.759-9C>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767589G= | CA2260175216 | JUP | c.708-9C= (n.708-9C=) c.759-9C= (n.759-9C=) | |
| 17 | g.41767589G>T | CA2260175218 | JUP | c.708-9C>A (n.708-9C>A) c.759-9C>A (n.759-9C>A) | ClinVar dbSNP gnomAD v4 |
| 17 | g.41767590del | CA2637859314 | JUP | c.708-10del (n.708-10del) c.759-10del (n.759-10del) | gnomAD v4 |
| 17 | g.41767590T>A | CA772068804 | JUP | c.708-10A>T (n.708-10A>T) c.759-10A>T (n.759-10A>T) | dbSNP gnomAD v4 |
| 17 | g.41767590T>C | CA2637859320 | JUP | c.708-10A>G (n.708-10A>G) c.759-10A>G (n.759-10A>G) | gnomAD v4 |
| 17 | g.41767590T>G | CA983788147 | JUP | c.708-10A>C (n.708-10A>C) c.759-10A>C (n.759-10A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767590T= | CA2260175219 | JUP | c.708-10A= (n.708-10A=) c.759-10A= (n.759-10A=) | |
| 17 | g.41767591G>A | CA626216185 | JUP | c.708-11C>T (n.708-11C>T) c.759-11C>T (n.759-11C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767591G= | CA2260175220 | JUP | c.708-11C= (n.708-11C=) c.759-11C= (n.759-11C=) | |
| 17 | g.41767591G>T | CA2576268956 | JUP | c.708-11C>A (n.708-11C>A) c.759-11C>A (n.759-11C>A) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGG | CA2637859326 | JUP | c.708-11_708-10insCCCCCCCC (n.708-11_708-10insCCCCCCCC) c.759-11_759-10insCCCCCCCC (n.759-11_759-10insCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGG | CA2637859334 | JUP | c.708-11_708-10insCCCCCCCCC (n.708-11_708-10insCCCCCCCCC) c.759-11_759-10insCCCCCCCCC (n.759-11_759-10insCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGG | CA2637859335 | JUP | c.708-11_708-10insCCCCCCCCCC (n.708-11_708-10insCCCCCCCCCC) c.759-11_759-10insCCCCCCCCCC (n.759-11_759-10insCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGG | CA2593970135 | JUP | c.708-11_708-10insCCCCCCCCCCC (n.708-11_708-10insCCCCCCCCCCC) c.759-11_759-10insCCCCCCCCCCC (n.759-11_759-10insCCCCCCCCCCC) | gnomAD v3 gnomAD v4 |
| 17 | g.41767593dup | CA2637859328 | JUP | c.708-11dup (n.708-11dup) c.759-11dup (n.759-11dup) | gnomAD v4 |
| 17 | g.41767592_41767593dup | CA2809501665 | JUP | c.708-12_708-11dup (n.708-12_708-11dup) c.759-12_759-11dup (n.759-12_759-11dup) | |
| 17 | g.41767593del | CA2637859333 | JUP | c.708-11del (n.708-11del) c.759-11del (n.759-11del) | gnomAD v4 |
| 17 | g.41767592_41767593del | CA2637859331 | JUP | c.708-12_708-11del (n.708-12_708-11del) c.759-12_759-11del (n.759-12_759-11del) | gnomAD v4 |
| 17 | g.41767592G>A | CA2637859344 | JUP | c.708-12C>T (n.708-12C>T) c.759-12C>T (n.759-12C>T) | gnomAD v4 |
| 17 | g.41767592G>C | CA8565393 | JUP | c.708-12C>G (n.708-12C>G) c.759-12C>G (n.759-12C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767592G= | CA2260175221 | JUP | c.708-12C= (n.708-12C=) c.759-12C= (n.759-12C=) | |
| 17 | g.41767592G>T | CA2637859343 | JUP | c.708-12C>A (n.708-12C>A) c.759-12C>A (n.759-12C>A) | gnomAD v4 |
| 17 | g.41767594_41767597del | CA2637859342 | JUP | c.708-15_708-12del (n.708-15_708-12del) c.759-15_759-12del (n.759-15_759-12del) | gnomAD v4 |
| 17 | g.41767593G>A | CA626216186 | JUP | c.708-13C>T (n.708-13C>T) c.759-13C>T (n.759-13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767593G>C | CA2576268957 | JUP | c.708-13C>G (n.708-13C>G) c.759-13C>G (n.759-13C>G) | gnomAD v4 |
| 17 | g.41767593G= | CA2260175222 | JUP | c.708-13C= (n.708-13C=) c.759-13C= (n.759-13C=) | |
| 17 | g.41767593G>T | CA290700077 | JUP | c.708-13C>A (n.708-13C>A) c.759-13C>A (n.759-13C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767593_41767594insGC | CA2637859356 | JUP | c.708-14_708-13insGC (n.708-14_708-13insGC) c.759-14_759-13insGC (n.759-14_759-13insGC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGC | CA2580582958 | JUP | c.708-14_708-13insGCC (n.708-14_708-13insGCC) c.759-14_759-13insGCC (n.759-14_759-13insGCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGC | CA2637859364 | JUP | c.708-14_708-13insGCCC (n.708-14_708-13insGCCC) c.759-14_759-13insGCCC (n.759-14_759-13insGCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGC | CA2637859363 | JUP | c.708-14_708-13insGCCCCCCC (n.708-14_708-13insGCCCCCCC) c.759-14_759-13insGCCCCCCC (n.759-14_759-13insGCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGC | CA2637859361 | JUP | c.708-14_708-13insGCCCCCCCC (n.708-14_708-13insGCCCCCCCC) c.759-14_759-13insGCCCCCCCC (n.759-14_759-13insGCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGC | CA2695196482 | JUP | c.708-14_708-13insGCCCCCCCCC (n.708-14_708-13insGCCCCCCCCC) c.759-14_759-13insGCCCCCCCCC (n.759-14_759-13insGCCCCCCCCC) | |
| 17 | g.41767593_41767594insGGGGGGGGGGC | CA2637859360 | JUP | c.708-14_708-13insGCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGGC | CA2637859362 | JUP | c.708-14_708-13insGCCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767593_41767594insGGGGGGGGGGGGGGGGC | CA2573332201 | JUP | c.708-14_708-13insGCCCCCCCCCCCCCCCC (n.708-14_708-13insGCCCCCCCCCCCCCCCC) c.759-14_759-13insGCCCCCCCCCCCCCCCC (n.759-14_759-13insGCCCCCCCCCCCCCCCC) | |
| 17 | g.41767594C>A | CA2576268958 | JUP | c.708-14G>T (n.708-14G>T) c.759-14G>T (n.759-14G>T) | gnomAD v4 |
| 17 | g.41767594C>G | CA2637859358 | JUP | c.708-14G>C (n.708-14G>C) c.759-14G>C (n.759-14G>C) | gnomAD v4 |
| 17 | g.41767594C>T | CA2637859357 | JUP | c.708-14G>A (n.708-14G>A) c.759-14G>A (n.759-14G>A) | gnomAD v4 |
| 17 | g.41767594dup | CA2499306850 | JUP | c.708-14dup (n.708-14dup) c.759-14dup (n.759-14dup) | gnomAD v4 |
| 17 | g.41767595A= | CA2260175223 | JUP | c.708-15T= (n.708-15T=) c.759-15T= (n.759-15T=) | |
| 17 | g.41767595A>C | CA2637859366 | JUP | c.708-15T>G (n.708-15T>G) c.759-15T>G (n.759-15T>G) | gnomAD v4 |
| 17 | g.41767595A>G | CA2576268959 | JUP | c.708-15T>C (n.708-15T>C) c.759-15T>C (n.759-15T>C) | gnomAD v4 |
| 17 | g.41767595A>T | CA983788169 | JUP | c.708-15T>A (n.708-15T>A) c.759-15T>A (n.759-15T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767595dup | CA2637859367 | JUP | c.708-15dup (n.708-15dup) c.759-15dup (n.759-15dup) | gnomAD v4 |
| 17 | g.41767595_41767596insT | CA2576268961 | JUP | c.708-16_708-15insA (n.708-16_708-15insA) c.759-16_759-15insA (n.759-16_759-15insA) | gnomAD v4 |
| 17 | g.41767595_41767596insATCAAACCCCCCCCCCCCCCGGGGGTGGGGGGGGGGGGGCCT | CA2809501666 | JUP | c.708-16_708-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT (n.708-16_708-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT) c.759-16_759-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT (n.759-16_759-15insAGGCCCCCCCCCCCCCACCCCCGGGGGGGGGGGGGGTTTGAT) | |
| 17 | g.41767596G>A | CA2576268960 | JUP | c.708-16C>T (n.708-16C>T) c.759-16C>T (n.759-16C>T) | gnomAD v4 |
| 17 | g.41767596G>C | CA2637859376 | JUP | c.708-16C>G (n.708-16C>G) c.759-16C>G (n.759-16C>G) | gnomAD v4 |
| 17 | g.41767596G>T | CA2637859378 | JUP | c.708-16C>A (n.708-16C>A) c.759-16C>A (n.759-16C>A) | gnomAD v4 |
| 17 | g.41767599_41767600insGGGGGGGGGCCTGGGG | CA2637859371 | JUP | c.708-16_708-15insAGGCCCCCCCCCCCCC (n.708-16_708-15insAGGCCCCCCCCCCCCC) c.759-16_759-15insAGGCCCCCCCCCCCCC (n.759-16_759-15insAGGCCCCCCCCCCCCC) | gnomAD v4 |
| 17 | g.41767599dup | CA2637859373 | JUP | c.708-16dup (n.708-16dup) c.759-16dup (n.759-16dup) | gnomAD v4 |
| 17 | g.41767599del | CA2637859374 | JUP | c.708-16del (n.708-16del) c.759-16del (n.759-16del) | gnomAD v4 |
| 17 | g.41767597G>A | CA983788175 | JUP | c.708-17C>T (n.708-17C>T) c.759-17C>T (n.759-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.41767597G= | CA2260175224 | JUP | c.708-17C= (n.708-17C=) c.759-17C= (n.759-17C=) | |
| 17 | g.41767597G>T | CA2637859381 | JUP | c.708-17C>A (n.708-17C>A) c.759-17C>A (n.759-17C>A) | gnomAD v4 |
| 17 | g.41767598G>A | CA2637859382 | JUP | c.708-18C>T (n.708-18C>T) c.759-18C>T (n.759-18C>T) | gnomAD v4 |
| 17 | g.41767598G>C | CA2637859383 | JUP | c.708-18C>G (n.708-18C>G) c.759-18C>G (n.759-18C>G) | gnomAD v4 |
| 17 | g.41767598G>T | CA2576268962 | JUP | c.708-18C>A (n.708-18C>A) c.759-18C>A (n.759-18C>A) | gnomAD v4 |
| 17 | g.41767598_41767602delinsGGTTA | CA2260175225 | JUP | c.708-22_708-18delinsTAACC (n.708-22_708-18delinsTAACC) c.759-22_759-18delinsTAACC (n.759-22_759-18delinsTAACC) | |
| 17 | g.41767599G>A | CA2637859385 | JUP | c.708-19C>T (n.708-19C>T) c.759-19C>T (n.759-19C>T) | gnomAD v4 |
| 17 | g.41767599G>T | CA2576268963 | JUP | c.708-19C>A (n.708-19C>A) c.759-19C>A (n.759-19C>A) | gnomAD v4 |
| 17 | g.41767601_41767604del | CA626216187 | JUP | c.708-22_708-19del (n.708-22_708-19del) c.759-22_759-19del (n.759-22_759-19del) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767600T>A | CA2637859391 | JUP | c.708-20A>T (n.708-20A>T) c.759-20A>T (n.759-20A>T) | gnomAD v4 |
| 17 | g.41767600T>G | CA983788180 | JUP | c.708-20A>C (n.708-20A>C) c.759-20A>C (n.759-20A>C) | gnomAD v3 gnomAD v4 |
| 17 | g.41767601del | CA2576268964 | JUP | c.708-20del (n.708-20del) c.759-20del (n.759-20del) | gnomAD v4 |
| 17 | g.41767601T>C | CA2637859393 | JUP | c.708-21A>G (n.708-21A>G) c.759-21A>G (n.759-21A>G) | gnomAD v4 |
| 17 | g.41767601T>G | CA2637859394 | JUP | c.708-21A>C (n.708-21A>C) c.759-21A>C (n.759-21A>C) | gnomAD v4 |
| 17 | g.41767602A>G | CA2637859395 | JUP | c.708-22T>C (n.708-22T>C) c.759-22T>C (n.759-22T>C) | gnomAD v4 |
| 17 | g.41767603G>A | CA2637859396 | JUP | c.708-23C>T (n.708-23C>T) c.759-23C>T (n.759-23C>T) | gnomAD v4 |
| 17 | g.41767603G>C | CA626216188 | JUP | c.708-23C>G (n.708-23C>G) c.759-23C>G (n.759-23C>G) | dbSNP gnomAD v2 |
| 17 | g.41767603G= | CA2260175226 | JUP | c.708-23C= (n.708-23C=) c.759-23C= (n.759-23C=) | |
| 17 | g.41767603G>T | CA2637859398 | JUP | c.708-23C>A (n.708-23C>A) c.759-23C>A (n.759-23C>A) | gnomAD v4 |
| 17 | g.41767604T>C | CA2637859400 | JUP | c.708-24A>G (n.708-24A>G) c.759-24A>G (n.759-24A>G) | gnomAD v4 |
| 17 | g.41767605A>G | CA2637859401 | JUP | c.708-25T>C (n.708-25T>C) c.759-25T>C (n.759-25T>C) | gnomAD v4 |
| 17 | g.41767606C>A | CA2637859403 | JUP | c.708-26G>T (n.708-26G>T) c.759-26G>T (n.759-26G>T) | gnomAD v4 |
| 17 | g.41767606C= | CA2260175227 | JUP | c.708-26G= (n.708-26G=) c.759-26G= (n.759-26G=) | |
| 17 | g.41767606C>T | CA8565394 | JUP | c.708-26G>A (n.708-26G>A) c.759-26G>A (n.759-26G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767607G>A | CA8565395 | JUP | c.708-27C>T (n.708-27C>T) c.759-27C>T (n.759-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767607G= | CA2260175228 | JUP | c.708-27C= (n.708-27C=) c.759-27C= (n.759-27C=) | |
| 17 | g.41767607G>T | CA626216189 | JUP | c.708-27C>A (n.708-27C>A) c.759-27C>A (n.759-27C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767608C>A | CA2637859409 | JUP | c.708-28G>T (n.708-28G>T) c.759-28G>T (n.759-28G>T) | gnomAD v4 |
| 17 | g.41767608C= | CA2260175229 | JUP | c.708-28G= (n.708-28G=) c.759-28G= (n.759-28G=) | |
| 17 | g.41767608C>T | CA626216190 | JUP | c.708-28G>A (n.708-28G>A) c.759-28G>A (n.759-28G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767609T>C | CA2637859412 | JUP | c.708-29A>G (n.708-29A>G) c.759-29A>G (n.759-29A>G) | gnomAD v4 |
| 17 | g.41767609T>G | CA2573039629 | JUP | c.708-29A>C (n.708-29A>C) c.759-29A>C (n.759-29A>C) | |
| 17 | g.41767610G>A | CA626216191 | JUP | c.708-30C>T (n.708-30C>T) c.759-30C>T (n.759-30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767610G= | CA2260175230 | JUP | c.708-30C= (n.708-30C=) c.759-30C= (n.759-30C=) | |
| 17 | g.41767610G>T | CA2637859414 | JUP | c.708-30C>A (n.708-30C>A) c.759-30C>A (n.759-30C>A) | gnomAD v4 |
| 17 | g.41767611A>G | CA2637859415 | JUP | c.708-31T>C (n.708-31T>C) c.759-31T>C (n.759-31T>C) | gnomAD v4 |
| 17 | g.41767612G>A | CA626216192 | JUP | c.708-32C>T (n.708-32C>T) c.759-32C>T (n.759-32C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767612G= | CA2260175231 | JUP | c.708-32C= (n.708-32C=) c.759-32C= (n.759-32C=) | |
| 17 | g.41767612G>T | CA2637859416 | JUP | c.708-32C>A (n.708-32C>A) c.759-32C>A (n.759-32C>A) | gnomAD v4 |
| 17 | g.41767613G>A | CA8565397 | JUP | c.708-33C>T (n.708-33C>T) c.759-33C>T (n.759-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767613G= | CA2260175232 | JUP | c.708-33C= (n.708-33C=) c.759-33C= (n.759-33C=) | |
| 17 | g.41767613G>T | CA8565396 | JUP | c.708-33C>A (n.708-33C>A) c.759-33C>A (n.759-33C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.41767615C>A | CA626216193 | JUP | c.708-35G>T (n.708-35G>T) c.759-35G>T (n.759-35G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.41767615C= | CA2260175233 | JUP | c.708-35G= (n.708-35G=) c.759-35G= (n.759-35G=) | |
| 17 | g.41767615C>T | CA2260175234 | JUP | c.708-35G>A (n.708-35G>A) c.759-35G>A (n.759-35G>A) | dbSNP |
| 17 | g.41767617del | CA2576268965 | JUP | c.708-35del (n.708-35del) c.759-35del (n.759-35del) | gnomAD v4 |