Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.240875965G>A | CA432024569 | AGXT | c.807G>A (p.Leu269=) n.459G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875965G>C | CA68180071 | AGXT | c.807G>C (p.Leu269=) n.459G>C | ClinVar dbSNP gnomAD v4 |
2 | g.240875965G= | CA1339334649 | AGXT | c.807G= (p.Leu269=) n.459G= | |
2 | g.240875965G>T | CA432024570 | AGXT | c.807G>T (p.Leu269=) n.459G>T | |
2 | g.240875965dup | CA2586971643 | AGXT | c.807dup (p.Tyr270ValfsTer?) n.459dup | ClinVar |
2 | g.240875966T>A | CA351318350 | AGXT | c.808T>A (p.Tyr270Asn) n.460T>A | |
2 | g.240875966T>C | CA351318351 | AGXT | c.808T>C (p.Tyr270His) n.460T>C | dbSNP |
2 | g.240875966T>G | CA351318352 | AGXT | c.808T>G (p.Tyr270Asp) n.460T>G | |
2 | g.240875966T= | CA1339334650 | AGXT | c.808T= (p.Tyr270=) n.460T= | |
2 | g.240875967A= | CA1339334651 | AGXT | c.809A= (p.Tyr270=) n.461A= | |
2 | g.240875967A>C | CA351318353 | AGXT | c.809A>C (p.Tyr270Ser) n.461A>C | |
2 | g.240875967A>G | CA2209270 | AGXT | c.809A>G (p.Tyr270Cys) n.461A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875967A>T | CA351318354 | AGXT | c.809A>T (p.Tyr270Phe) n.461A>T | gnomAD v4 |
2 | g.240875968C>A | CA351318355 | AGXT | c.810C>A (p.Tyr270Ter) n.462C>A | |
2 | g.240875968C= | CA1339334652 | AGXT | c.810C= (p.Tyr270=) n.462C= | |
2 | g.240875968C>G | CA351318356 | AGXT | c.810C>G (p.Tyr270Ter) n.462C>G | |
2 | g.240875968C>T | CA432024577 | AGXT | c.810C>T (p.Tyr270=) n.462C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875969A>C | CA351318357 | AGXT | c.811A>C (p.Ser271Arg) n.463A>C | |
2 | g.240875969A>G | CA351318358 | AGXT | c.811A>G (p.Ser271Gly) n.463A>G | |
2 | g.240875969A>T | CA351318359 | AGXT | c.811A>T (p.Ser271Cys) n.463A>T | |
2 | g.240875970G>A | CA351318360 | AGXT | c.812G>A (p.Ser271Asn) n.464G>A | gnomAD v4 |
2 | g.240875970G>C | CA351318361 | AGXT | c.812G>C (p.Ser271Thr) n.464G>C | |
2 | g.240875970G>T | CA351318362 | AGXT | c.812G>T (p.Ser271Ile) n.464G>T | |
2 | g.240875971C>A | CA351318363 | AGXT | c.813C>A (p.Ser271Arg) n.465C>A | |
2 | g.240875971C>G | CA351318364 | AGXT | c.813C>G (p.Ser271Arg) n.465C>G | |
2 | g.240875971C>T | CA432024586 | AGXT | c.813C>T (p.Ser271=) n.465C>T | |
2 | g.240875972C>A | CA351318365 | AGXT | c.814C>A (p.Leu272Met) n.466C>A | |
2 | g.240875972C= | CA1339334653 | AGXT | c.814C= (p.Leu272=) n.466C= | |
2 | g.240875972C>G | CA351318366 | AGXT | c.814C>G (p.Leu272Val) n.466C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240875972C>T | CA432024588 | AGXT | c.814C>T (p.Leu272=) n.466C>T | |
2 | g.240875973T>A | CA351318367 | AGXT | c.815T>A (p.Leu272Gln) n.467T>A | |
2 | g.240875973T>C | CA351318368 | AGXT | c.815T>C (p.Leu272Pro) n.467T>C | ClinVar |
2 | g.240875973T>G | CA351318369 | AGXT | c.815T>G (p.Leu272Arg) n.467T>G | |
2 | g.240875973_240875975delinsTGA | CA1339334654 | AGXT | c.815_817delinsTGA (p.Leu272=) n.467_469delinsTGA | |
2 | g.240875974G>A | CA432024592 | AGXT | c.816G>A (p.Leu272=) n.468G>A | |
2 | g.240875974G>C | CA432024595 | AGXT | c.816G>C (p.Leu272=) n.468G>C | |
2 | g.240875974G>T | CA432024597 | AGXT | c.816G>T (p.Leu272=) n.468G>T | |
2 | g.240875981_240875982dup | CA275854 | AGXT | c.823_824dup (p.Ser275ArgfsTer?) n.475_476dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875981_240875982del | CA540537272 | AGXT | c.823_824del (p.Ser275ProfsTer?) n.475_476del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875975A>C | CA432024600 | AGXT | c.817A>C (p.Arg273=) n.469A>C | |
2 | g.240875975A>G | CA351318371 | AGXT | c.817A>G (p.Arg273Gly) n.469A>G | gnomAD v4 |
2 | g.240875975A>T | CA351318370 | AGXT | c.817A>T (p.Arg273Ter) n.469A>T | |
2 | g.240875976G>A | CA351318372 | AGXT | c.818G>A (p.Arg273Lys) n.470G>A | |
2 | g.240875976G>C | CA351318373 | AGXT | c.818G>C (p.Arg273Thr) n.470G>C | gnomAD v4 |
2 | g.240875976G>T | CA351318374 | AGXT | c.818G>T (p.Arg273Ile) n.470G>T | |
2 | g.240875977A>C | CA351318375 | AGXT | c.819A>C (p.Arg273Ser) n.471A>C | |
2 | g.240875977A>G | CA432024602 | AGXT | c.819A>G (p.Arg273=) n.471A>G | |
2 | g.240875977A>T | CA351318376 | AGXT | c.819A>T (p.Arg273Ser) n.471A>T | |
2 | g.240875978G>A | CA351318377 | AGXT | c.820G>A (p.Glu274Lys) n.472G>A | |
2 | g.240875978G>C | CA351318378 | AGXT | c.820G>C (p.Glu274Gln) n.472G>C | |
2 | g.240875978G>T | CA351318379 | AGXT | c.820G>T (p.Glu274Ter) n.472G>T | |
2 | g.240875979A>C | CA351318380 | AGXT | c.821A>C (p.Glu274Ala) n.473A>C | |
2 | g.240875979A>G | CA351318381 | AGXT | c.821A>G (p.Glu274Gly) n.473A>G | |
2 | g.240875979A>T | CA351318382 | AGXT | c.821A>T (p.Glu274Val) n.473A>T | |
2 | g.240875980G>A | CA432024608 | AGXT | c.822G>A (p.Glu274=) n.474G>A | |
2 | g.240875980G>C | CA275741 | AGXT | c.822G>C (p.Glu274Asp) n.474G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875980G= | CA1339334655 | AGXT | c.822G= (p.Glu274=) n.474G= | |
2 | g.240875980G>T | CA351318383 | AGXT | c.822G>T (p.Glu274Asp) n.474G>T | |
2 | g.240875981A= | CA1339334656 | AGXT | c.823A= (p.Ser275=) n.475A= | |
2 | g.240875981A>C | CA275743 | AGXT | c.823A>C (p.Ser275Arg) n.475A>C | ClinVar dbSNP |
2 | g.240875981A>G | CA351318385 | AGXT | c.823A>G (p.Ser275Gly) n.475A>G | |
2 | g.240875981A>T | CA351318384 | AGXT | c.823A>T (p.Ser275Cys) n.475A>T | |
2 | g.240875982G>A | CA351318386 | AGXT | c.824G>A (p.Ser275Asn) n.476G>A | ClinVar dbSNP |
2 | g.240875982G>C | CA351318387 | AGXT | c.824G>C (p.Ser275Thr) n.476G>C | |
2 | g.240875982G= | CA1339334657 | AGXT | c.824G= (p.Ser275=) n.476G= | |
2 | g.240875982G>T | CA2209271 | AGXT | c.824G>T (p.Ser275Ile) n.476G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240875983C>A | CA351318388 | AGXT | c.825C>A (p.Ser275Arg) n.477C>A | COSMIC |
2 | g.240875983C>G | CA351318389 | AGXT | c.825C>G (p.Ser275Arg) n.477C>G | |
2 | g.240875983C>T | CA432024642 | AGXT | c.825C>T (p.Ser275=) n.477C>T | |
2 | g.240875984C>A | CA351318391 | AGXT | c.826C>A (p.Leu276Met) n.478C>A | |
2 | g.240875984C>G | CA351318390 | AGXT | c.826C>G (p.Leu276Val) n.478C>G | |
2 | g.240875984C>T | CA432024643 | AGXT | c.826C>T (p.Leu276=) n.478C>T | |
2 | g.240875984_240875985delinsGA | CA2695197717 | AGXT | c.826_827delinsGA (p.Leu276Glu) n.478_479delinsGA | ClinVar |
2 | g.240875985T>A | CA351318392 | AGXT | c.827T>A (p.Leu276Gln) n.479T>A | ClinVar gnomAD v4 |
2 | g.240875985T>C | CA351318393 | AGXT | c.827T>C (p.Leu276Pro) n.479T>C | |
2 | g.240875985T>G | CA351318394 | AGXT | c.827T>G (p.Leu276Arg) n.479T>G | |
2 | g.240875986G>A | CA432024649 | AGXT | c.828G>A (p.Leu276=) n.480G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240875986G>C | CA432024651 | AGXT | c.828G>C (p.Leu276=) n.480G>C | |
2 | g.240875986G= | CA1339334659 | AGXT | c.828G= (p.Leu276=) n.480G= | |
2 | g.240875986G>T | CA432024652 | AGXT | c.828G>T (p.Leu276=) n.480G>T | |
2 | g.240875986_240875988delinsGGC | CA1339334658 | AGXT | c.828_830delinsGGC (p.Leu276=) n.480_482delinsGGC | |
2 | g.240875987G>A | CA351318395 | AGXT | c.829G>A (p.Ala277Thr) n.481G>A | |
2 | g.240875987G>C | CA351318396 | AGXT | c.829G>C (p.Ala277Pro) n.481G>C | |
2 | g.240875987G= | CA1339334660 | AGXT | c.829G= (p.Ala277=) n.481G= | |
2 | g.240875987G>T | CA351318397 | AGXT | c.829G>T (p.Ala277Ser) n.481G>T | |
2 | g.240875987_240875988delinsA | CA68180080 | AGXT | c.829_830delinsA (p.Ala277ThrfsTer?) n.481_482delinsA | dbSNP |
2 | g.240875987_240875988insA | CA352237 | AGXT | c.829_830insA (p.Ala277AspfsTer?) n.481_482insA | dbSNP |
2 | g.240875988C>A | CA352238 | AGXT | c.830C>A (p.Ala277Asp) n.482C>A | dbSNP |
2 | g.240875988C= | CA1339334661 | AGXT | c.830C= (p.Ala277=) n.482C= | |
2 | g.240875988C>G | CA351318399 | AGXT | c.830C>G (p.Ala277Gly) n.482C>G | |
2 | g.240875988C>T | CA351318398 | AGXT | c.830C>T (p.Ala277Val) n.482C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875988delinsAA | CA2695197718 | AGXT | c.830delinsAA (p.Ala277GlufsTer?) n.482delinsAA | ClinVar |
2 | g.240875990del | CA2499215816 | AGXT | c.832del (p.Leu278SerfsTer?) n.484del | ClinVar dbSNP |
2 | g.240875989C>A | CA432024667 | AGXT | c.831C>A (p.Ala277=) n.483C>A | |
2 | g.240875989C= | CA1339334662 | AGXT | c.831C= (p.Ala277=) n.483C= | |
2 | g.240875989C>G | CA432024670 | AGXT | c.831C>G (p.Ala277=) n.483C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.240875989C>T | CA432024671 | AGXT | c.831C>T (p.Ala277=) n.483C>T | |
2 | g.240875990C>A | CA351318400 | AGXT | c.832C>A (p.Leu278Ile) n.484C>A | |
2 | g.240875990C>G | CA351318401 | AGXT | c.832C>G (p.Leu278Val) n.484C>G | |
2 | g.240875990C>T | CA351318402 | AGXT | c.832C>T (p.Leu278Phe) n.484C>T | |
2 | g.240875991T>A | CA351318403 | AGXT | c.833T>A (p.Leu278His) n.485T>A | |
2 | g.240875991T>C | CA351318404 | AGXT | c.833T>C (p.Leu278Pro) n.485T>C | |
2 | g.240875991T>G | CA351318405 | AGXT | c.833T>G (p.Leu278Arg) n.485T>G | |
2 | g.240875991_240875992delinsTC | CA1339334663 | AGXT | c.833_834delinsTC (p.Leu278=) n.485_486delinsTC | |
2 | g.240875991_240875992insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC | CA2664009647 | AGXT | c.833_834insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC (p.Ile279ProfsTer?) n.485_486insGCCCACTCTCCAAGGGGTATCCAGTAAAGCGTATCCTGTCGCCC | gnomAD v4 |
2 | g.240875992del | CA275855 | AGXT | c.834del (p.Ile279LeufsTer?) n.486del | ClinVar dbSNP |
2 | g.240875992C>A | CA432024680 | AGXT | c.834C>A (p.Leu278=) n.486C>A | |
2 | g.240875992C>G | CA432024679 | AGXT | c.834C>G (p.Leu278=) n.486C>G | |
2 | g.240875992C>T | CA432024678 | AGXT | c.834C>T (p.Leu278=) n.486C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240875993A>C | CA351318406 | AGXT | c.835A>C (p.Ile279Leu) n.487A>C | |
2 | g.240875993A>G | CA351318407 | AGXT | c.835A>G (p.Ile279Val) n.487A>G | gnomAD v4 |
2 | g.240875993A>T | CA351318408 | AGXT | c.835A>T (p.Ile279Phe) n.487A>T | |
2 | g.240875994T>A | CA351318410 | AGXT | c.836T>A (p.Ile279Asn) n.488T>A | |
2 | g.240875994T>C | CA203554 | AGXT | c.836T>C (p.Ile279Thr) n.488T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875994T>G | CA351318409 | AGXT | c.836T>G (p.Ile279Ser) n.488T>G | |
2 | g.240875994T= | CA1339334664 | AGXT | c.836T= (p.Ile279=) n.488T= | |
2 | g.240875995T>A | CA432024685 | AGXT | c.837T>A (p.Ile279=) n.489T>A | |
2 | g.240875995T>C | CA432024688 | AGXT | c.837T>C (p.Ile279=) n.489T>C | ClinVar gnomAD v4 |
2 | g.240875995T>G | CA275592 | AGXT | c.837T>G (p.Ile279Met) n.489T>G | ClinVar dbSNP |
2 | g.240875995T= | CA1339334665 | AGXT | c.837T= (p.Ile279=) n.489T= | |
2 | g.240875996del | CA2573051907 | AGXT | c.838del (p.Ala280ArgfsTer?) n.490del | ClinVar dbSNP |
2 | g.240875996G>A | CA351318411 | AGXT | c.838G>A (p.Ala280Thr) n.490G>A | |
2 | g.240875996G>C | CA351318412 | AGXT | c.838G>C (p.Ala280Pro) n.490G>C | |
2 | g.240875996G= | CA1339334666 | AGXT | c.838G= (p.Ala280=) n.490G= | |
2 | g.240875996G>T | CA2209272 | AGXT | c.838G>T (p.Ala280Ser) n.490G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875997C>A | CA2209273 | AGXT | c.839C>A (p.Ala280Glu) n.491C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.240875997C= | CA1339334667 | AGXT | c.839C= (p.Ala280=) n.491C= | |
2 | g.240875997C>G | CA351318413 | AGXT | c.839C>G (p.Ala280Gly) n.491C>G | gnomAD v4 |
2 | g.240875997C>T | CA275593 | AGXT | c.839C>T (p.Ala280Val) n.491C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G>A | CA2209274 | AGXT | c.840G>A (p.Ala280=) n.492G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G>C | CA2209275 | AGXT | c.840G>C (p.Ala280=) n.492G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240875998G= | CA1339334668 | AGXT | c.840G= (p.Ala280=) n.492G= | |
2 | g.240875998G>T | CA432024714 | AGXT | c.840G>T (p.Ala280=) n.492G>T | |
2 | g.240875999G>A | CA351318414 | AGXT | c.841G>A (p.Glu281Lys) n.493G>A | |
2 | g.240875999G>C | CA351318415 | AGXT | c.841G>C (p.Glu281Gln) n.493G>C | |
2 | g.240875999G= | CA1339334669 | AGXT | c.841G= (p.Glu281=) n.493G= | |
2 | g.240875999G>T | CA351318416 | AGXT | c.841G>T (p.Glu281Ter) n.493G>T | ClinVar dbSNP |
2 | g.240876000A>C | CA351318419 | AGXT | c.842A>C (p.Glu281Ala) n.494A>C | |
2 | g.240876000A>G | CA351318418 | AGXT | c.842A>G (p.Glu281Gly) n.494A>G | |
2 | g.240876000A>T | CA351318417 | AGXT | c.842A>T (p.Glu281Val) n.494A>T | |
2 | g.240876001A>C | CA351318420 | AGXT | c.843A>C (p.Glu281Asp) n.495A>C | |
2 | g.240876001A>G | CA432024726 | AGXT | c.843A>G (p.Glu281=) n.495A>G | |
2 | g.240876001A>T | CA351318421 | AGXT | c.843A>T (p.Glu281Asp) n.495A>T | |
2 | g.240876002C>A | CA68180090 | AGXT | c.844C>A (p.Gln282Lys) n.496C>A | dbSNP gnomAD v4 |
2 | g.240876002C= | CA1339334670 | AGXT | c.844C= (p.Gln282=) n.496C= | |
2 | g.240876002C>G | CA351318422 | AGXT | c.844C>G (p.Gln282Glu) n.496C>G | |
2 | g.240876002C>T | CA275745 | AGXT | c.844C>T (p.Gln282Ter) n.496C>T | ClinVar dbSNP gnomAD v4 |
2 | g.240876003A= | CA1339334671 | AGXT | c.845A= (p.Gln282=) n.497A= | |
2 | g.240876003A>C | CA351318423 | AGXT | c.845A>C (p.Gln282Pro) n.497A>C | |
2 | g.240876003A>G | CA275595 | AGXT | c.845A>G (p.Gln282Arg) n.497A>G | ClinVar dbSNP |
2 | g.240876003A>T | CA351318424 | AGXT | c.845A>T (p.Gln282Leu) n.497A>T | |
2 | g.240876004G>A | CA432024735 | AGXT | c.846G>A (p.Gln282=) n.498G>A | |
2 | g.240876004G>C | CA275748 | AGXT | c.846G>C (p.Gln282His) n.498G>C | ClinVar dbSNP |
2 | g.240876004G= | CA1339334672 | AGXT | c.846G= (p.Gln282=) n.498G= | |
2 | g.240876004G>T | CA351318425 | AGXT | c.846G>T (p.Gln282His) n.498G>T | |
2 | g.240876005G>A | CA275800 | AGXT | c.846+1G>A (n.846+1G>A) n.499G>A | ClinVar dbSNP gnomAD v4 |
2 | g.240876005G>C | CA351318426 | AGXT | c.846+1G>C (n.846+1G>C) n.499G>C | |
2 | g.240876005G= | CA1339334673 | AGXT | c.846+1G= (n.846+1G=) n.499G= | |
2 | g.240876005G>T | CA275799 | AGXT | c.846+1G>T (n.846+1G>T) n.499G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876006T>A | CA351318427 | AGXT | c.846+2T>A (n.846+2T>A) n.500T>A | |
2 | g.240876006T>C | CA351318428 | AGXT | c.846+2T>C (n.846+2T>C) n.500T>C | |
2 | g.240876006T>G | CA351318429 | AGXT | c.846+2T>G (n.846+2T>G) n.500T>G | |
2 | g.240876009A= | CA1339334674 | AGXT | c.846+5A= (n.846+5A=) n.503A= | |
2 | g.240876009A>C | CA540537344 | AGXT | c.846+5A>C (n.846+5A>C) n.503A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876009A>G | CA2209276 | AGXT | c.846+5A>G (n.846+5A>G) n.503A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876010T>A | CA2577302705 | AGXT | c.846+6T>A (n.846+6T>A) n.504T>A | gnomAD v4 |
2 | g.240876010T>C | CA2209277 | AGXT | c.846+6T>C (n.846+6T>C) n.504T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876010T= | CA1339334675 | AGXT | c.846+6T= (n.846+6T=) n.504T= | |
2 | g.240876011G>A | CA540537355 | AGXT | c.846+7G>A (n.846+7G>A) n.505G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876011G= | CA1339334676 | AGXT | c.846+7G= (n.846+7G=) n.505G= | |
2 | g.240876013G>A | CA1339334678 | AGXT | c.846+9G>A (n.846+9G>A) n.507G>A | dbSNP gnomAD v4 |
2 | g.240876013G= | CA1339334677 | AGXT | c.846+9G= (n.846+9G=) n.507G= | |
2 | g.240876014C>T | CA2697550621 | AGXT | c.846+10C>T (n.846+10C>T) | ClinVar |
2 | g.240876015T>G | CA2697550622 | AGXT | c.846+11T>G (n.846+11T>G) | ClinVar |
2 | g.240876016G>A | CA540537357 | AGXT | c.846+12G>A (n.846+12G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876016G= | CA1339334679 | AGXT | c.846+12G= (n.846+12G=) | |
2 | g.240876017C= | CA1339334680 | AGXT | c.846+13C= (n.846+13C=) | |
2 | g.240876017C>T | CA2209278 | AGXT | c.846+13C>T (n.846+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876018A= | CA1339334681 | AGXT | c.846+14A= (n.846+14A=) | |
2 | g.240876018A>C | CA2664009671 | AGXT | c.846+14A>C (n.846+14A>C) | gnomAD v4 |
2 | g.240876018A>G | CA2664009672 | AGXT | c.846+14A>G (n.846+14A>G) | gnomAD v4 |
2 | g.240876018A>T | CA1044069418 | AGXT | c.846+14A>T (n.846+14A>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876019C= | CA1339334682 | AGXT | c.846+15C= (n.846+15C=) | |
2 | g.240876019C>G | CA2209279 | AGXT | c.846+15C>G (n.846+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240876019C>T | CA2664009673 | AGXT | c.846+15C>T (n.846+15C>T) | gnomAD v4 |
2 | g.240876020T>C | CA540537367 | AGXT | c.846+16T>C (n.846+16T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876020T= | CA1339334683 | AGXT | c.846+16T= (n.846+16T=) | |
2 | g.240876021C= | CA1339334684 | AGXT | c.846+17C= (n.846+17C=) | |
2 | g.240876021C>T | CA540537370 | AGXT | c.846+17C>T (n.846+17C>T) | dbSNP gnomAD v2 |
2 | g.240876022C= | CA1339334685 | AGXT | c.846+18C= (n.846+18C=) | |
2 | g.240876022C>T | CA2209280 | AGXT | c.846+18C>T (n.846+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240876024C>A | CA2664009674 | AGXT | c.846+20C>A (n.846+20C>A) | gnomAD v4 |
2 | g.240876024_240876027delinsCAGG | CA1339334686 | AGXT | c.846+20_846+23delinsCAGG (n.846+20_846+23delinsCAGG) | |
2 | g.240876025A>C | CA2664009675 | AGXT | c.846+21A>C (n.846+21A>C) | gnomAD v4 |
2 | g.240876025A>G | CA2664009676 | AGXT | c.846+21A>G (n.846+21A>G) | gnomAD v4 |
2 | g.240876030_240876032del | CA2209281 | AGXT | c.846+26_846+28del (n.846+26_846+28del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.240876027G>A | CA68180104 | AGXT | c.846+23G>A (n.846+23G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876027G= | CA1339334687 | AGXT | c.846+23G= (n.846+23G=) | |
2 | g.240876027G>T | CA540537375 | AGXT | c.846+23G>T (n.846+23G>T) | dbSNP gnomAD v2 |
2 | g.240876028A>T | CA2664009677 | AGXT | c.846+24A>T (n.846+24A>T) | gnomAD v4 |
2 | g.240876029G>A | CA2664009678 | AGXT | c.846+25G>A (n.846+25G>A) | gnomAD v4 |
2 | g.240876030G>A | CA68180107 | AGXT | c.846+26G>A (n.846+26G>A) | dbSNP |
2 | g.240876030G= | CA1339334688 | AGXT | c.846+26G= (n.846+26G=) | |
2 | g.240876030G>T | CA2664009679 | AGXT | c.846+26G>T (n.846+26G>T) | gnomAD v4 |
2 | g.240876031A>C | CA2664009681 | AGXT | c.846+27A>C (n.846+27A>C) | gnomAD v4 |
2 | g.240876031A>T | CA2664009680 | AGXT | c.846+27A>T (n.846+27A>T) | gnomAD v4 |
2 | g.240876032G>A | CA2664009682 | AGXT | c.846+28G>A (n.846+28G>A) | gnomAD v4 |
2 | g.240876034C>A | CA2209282 | AGXT | c.846+30C>A (n.846+30C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876034C= | CA1339334689 | AGXT | c.846+30C= (n.846+30C=) | |
2 | g.240876034C>T | CA2664009683 | AGXT | c.846+30C>T (n.846+30C>T) | gnomAD v4 |
2 | g.240876035_240876036del | CA2701857827 | AGXT | c.846+31_846+32del (n.846+31_846+32del) | dbSNP |
2 | g.240876036G>A | CA2664009684 | AGXT | c.846+32G>A (n.846+32G>A) | gnomAD v4 |
2 | g.240876038del | CA2577302706 | AGXT | c.846+34del (n.846+34del) | |
2 | g.240876037G>A | CA1044069425 | AGXT | c.846+33G>A (n.846+33G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876037G= | CA1339334690 | AGXT | c.846+33G= (n.846+33G=) | |
2 | g.240876038G>A | CA2209283 | AGXT | c.846+34G>A (n.846+34G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876038G= | CA1339334691 | AGXT | c.846+34G= (n.846+34G=) | |
2 | g.240876038G>T | CA2664009685 | AGXT | c.846+34G>T (n.846+34G>T) | gnomAD v4 |
2 | g.240876039C>A | CA1339334693 | AGXT | c.846+35C>A (n.846+35C>A) | dbSNP gnomAD v4 |
2 | g.240876039C= | CA1339334692 | AGXT | c.846+35C= (n.846+35C=) | |
2 | g.240876039C>T | CA540537385 | AGXT | c.846+35C>T (n.846+35C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876040del | CA2664009686 | AGXT | c.846+36del (n.846+36del) | gnomAD v4 |
2 | g.240876040C>A | CA2664009687 | AGXT | c.846+36C>A (n.846+36C>A) | gnomAD v4 |
2 | g.240876040C= | CA1339334694 | AGXT | c.846+36C= (n.846+36C=) | |
2 | g.240876040C>T | CA2209284 | AGXT | c.846+36C>T (n.846+36C>T) | dbSNP ExAC gnomAD v2 |
2 | g.240876041A= | CA1339334695 | AGXT | c.846+37A= (n.846+37A=) | |
2 | g.240876041A>G | CA1339334696 | AGXT | c.846+37A>G (n.846+37A>G) | dbSNP |
2 | g.240876041A>T | CA540537393 | AGXT | c.846+37A>T (n.846+37A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876042C= | CA1339334697 | AGXT | c.846+38C= (n.846+38C=) | |
2 | g.240876042C>T | CA1044069426 | AGXT | c.846+38C>T (n.846+38C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876043T>A | CA1339334699 | AGXT | c.846+39T>A (n.846+39T>A) | dbSNP |
2 | g.240876043T>C | CA2577302707 | AGXT | c.846+39T>C (n.846+39T>C) | gnomAD v4 |
2 | g.240876043T= | CA1339334698 | AGXT | c.846+39T= (n.846+39T=) | |
2 | g.240876044G>A | CA2664009688 | AGXT | c.846+40G>A (n.846+40G>A) | gnomAD v4 |
2 | g.240876045G>A | CA2664009689 | AGXT | c.846+41G>A (n.846+41G>A) | gnomAD v4 |
2 | g.240876045G>C | CA2664009690 | AGXT | c.846+41G>C (n.846+41G>C) | gnomAD v4 |
2 | g.240876046C>A | CA540537394 | AGXT | c.846+42C>A (n.846+42C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876046C= | CA1339334700 | AGXT | c.846+42C= (n.846+42C=) | |
2 | g.240876046C>T | CA2664009691 | AGXT | c.846+42C>T (n.846+42C>T) | gnomAD v4 |
2 | g.240876048G>A | CA2664009692 | AGXT | c.846+44G>A (n.846+44G>A) | gnomAD v4 |
2 | g.240876049G>A | CA2664009693 | AGXT | c.846+45G>A (n.846+45G>A) | gnomAD v4 |
2 | g.240876049G= | CA1339334701 | AGXT | c.846+45G= (n.846+45G=) | |
2 | g.240876049G>T | CA2209285 | AGXT | c.846+45G>T (n.846+45G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876050A= | CA1339334702 | AGXT | c.846+46A= (n.846+46A=) | |
2 | g.240876050A>G | CA2209286 | AGXT | c.846+46A>G (n.846+46A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876051T>A | CA2664009694 | AGXT | c.846+47T>A (n.846+47T>A) | gnomAD v4 |
2 | g.240876051T>C | CA540537411 | AGXT | c.846+47T>C (n.846+47T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876051T= | CA1339334703 | AGXT | c.846+47T= (n.846+47T=) | |
2 | g.240876052T>A | CA2664009695 | AGXT | c.846+48T>A (n.846+48T>A) | gnomAD v4 |
2 | g.240876052T>G | CA2664009696 | AGXT | c.846+48T>G (n.846+48T>G) | gnomAD v4 |
2 | g.240876054T>C | CA540537415 | AGXT | c.846+50T>C (n.846+50T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.240876054T= | CA1339334704 | AGXT | c.846+50T= (n.846+50T=) | |
2 | g.240876055C>A | CA540537416 | AGXT | c.846+51C>A (n.846+51C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876055C= | CA1339334705 | AGXT | c.846+51C= (n.846+51C=) | |
2 | g.240876055C>G | CA2664009697 | AGXT | c.846+51C>G (n.846+51C>G) | gnomAD v4 |
2 | g.240876055C>T | CA2209287 | AGXT | c.846+51C>T (n.846+51C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876056del | CA2577302708 | AGXT | c.846+52del (n.846+52del) | gnomAD v4 |
2 | g.240876056G>A | CA275597 | AGXT | c.846+52G>A (n.846+52G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876056G>C | CA2581793063 | AGXT | c.846+52G>C (n.846+52G>C) | |
2 | g.240876056G= | CA1339334706 | AGXT | c.846+52G= (n.846+52G=) | |
2 | g.240876056G>T | CA2581793062 | AGXT | c.846+52G>T (n.846+52G>T) | gnomAD v4 |
2 | g.240876057A>C | CA2664009698 | AGXT | c.846+53A>C (n.846+53A>C) | gnomAD v4 |
2 | g.240876058G>C | CA1339334708 | AGXT | c.846+54G>C (n.846+54G>C) | dbSNP |
2 | g.240876058G= | CA1339334707 | AGXT | c.846+54G= (n.846+54G=) | |
2 | g.240876060del | CA2664009699 | AGXT | c.846+56del (n.846+56del) | gnomAD v4 |
2 | g.240876059G>T | CA2754892413 | AGXT | c.846+55G>T (n.846+55G>T) | |
2 | g.240876060G>A | CA1339334710 | AGXT | c.846+56G>A (n.846+56G>A) | dbSNP gnomAD v4 |
2 | g.240876060G>C | CA766965803 | AGXT | c.846+56G>C (n.846+56G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876060G= | CA1339334709 | AGXT | c.846+56G= (n.846+56G=) | |
2 | g.240876060G>T | CA2664009700 | AGXT | c.846+56G>T (n.846+56G>T) | gnomAD v4 |
2 | g.240876061C>A | CA2664009701 | AGXT | c.846+57C>A (n.846+57C>A) | gnomAD v4 |
2 | g.240876061C= | CA1339334711 | AGXT | c.846+57C= (n.846+57C=) | |
2 | g.240876061C>T | CA68180117 | AGXT | c.846+57C>T (n.846+57C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876062G>A | CA11346642 | AGXT | c.846+58G>A (n.846+58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876062G>C | CA2664009702 | AGXT | c.846+58G>C (n.846+58G>C) | gnomAD v4 |
2 | g.240876062G= | CA1339334712 | AGXT | c.846+58G= (n.846+58G=) | |
2 | g.240876063C>A | CA2577302709 | AGXT | c.846+59C>A (n.846+59C>A) | gnomAD v4 |
2 | g.240876063C= | CA1339334713 | AGXT | c.846+59C= (n.846+59C=) | |
2 | g.240876063C>T | CA766965807 | AGXT | c.846+59C>T (n.846+59C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.240876064G>A | CA68180119 | AGXT | c.846+60G>A (n.846+60G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.240876064G= | CA1339334714 | AGXT | c.846+60G= (n.846+60G=) | |
2 | g.240876064G>T | CA2664009703 | AGXT | c.846+60G>T (n.846+60G>T) | gnomAD v4 |
2 | g.240876065G>A | CA2664009704 | AGXT | c.846+61G>A (n.846+61G>A) | gnomAD v4 |