Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.158612568_158612718del | CA2746290216 | SPTA1 | c.7134+109_7134+259del (n.7134+109_7134+259del) c.7116+109_7116+259del (n.7116+109_7116+259del) | |
1 | g.158612602_158612643del | CA2648555416 | SPTA1 | c.7134+180_7134+221del (n.7134+180_7134+221del) c.7116+180_7116+221del (n.7116+180_7116+221del) | gnomAD v4 |
1 | g.158612598T>C | CA2746290230 | SPTA1 | c.7134+219A>G (n.7134+219A>G) c.7116+219A>G (n.7116+219A>G) | |
1 | g.158612598T>G | CA2648555419 | SPTA1 | c.7134+219A>C (n.7134+219A>C) c.7116+219A>C (n.7116+219A>C) | gnomAD v4 |
1 | g.158612600G>A | CA2746290232 | SPTA1 | c.7134+217C>T (n.7134+217C>T) c.7116+217C>T (n.7116+217C>T) | |
1 | g.158612600G>C | CA2648555421 | SPTA1 | c.7134+217C>G (n.7134+217C>G) c.7116+217C>G (n.7116+217C>G) | gnomAD v4 |
1 | g.158612600G>T | CA2648555420 | SPTA1 | c.7134+217C>A (n.7134+217C>A) c.7116+217C>A (n.7116+217C>A) | gnomAD v4 |
1 | g.158612601A= | CA1201536802 | SPTA1 | c.7134+216T= (n.7134+216T=) c.7116+216T= (n.7116+216T=) | |
1 | g.158612601A>T | CA31250373 | SPTA1 | c.7134+216T>A (n.7134+216T>A) c.7116+216T>A (n.7116+216T>A) | dbSNP gnomAD v4 |
1 | g.158612601_158612621del | CA2746290234 | SPTA1 | c.7134+196_7134+216del (n.7134+196_7134+216del) c.7116+196_7116+216del (n.7116+196_7116+216del) | |
1 | g.158612602A>T | CA2648555422 | SPTA1 | c.7134+215T>A (n.7134+215T>A) c.7116+215T>A (n.7116+215T>A) | gnomAD v4 |
1 | g.158612603T>C | CA889965521 | SPTA1 | c.7134+214A>G (n.7134+214A>G) c.7116+214A>G (n.7116+214A>G) | dbSNP gnomAD v4 |
1 | g.158612603T>G | CA2648555423 | SPTA1 | c.7134+214A>C (n.7134+214A>C) c.7116+214A>C (n.7116+214A>C) | gnomAD v4 |
1 | g.158612603T= | CA1201536803 | SPTA1 | c.7134+214A= (n.7134+214A=) c.7116+214A= (n.7116+214A=) | |
1 | g.158612605G>A | CA2648555424 | SPTA1 | c.7134+212C>T (n.7134+212C>T) c.7116+212C>T (n.7116+212C>T) | gnomAD v4 |
1 | g.158612605G>T | CA2648555425 | SPTA1 | c.7134+212C>A (n.7134+212C>A) c.7116+212C>A (n.7116+212C>A) | gnomAD v4 |
1 | g.158612606_158612608delinsACT | CA1201536804 | SPTA1 | c.7134+209_7134+211delinsAGT (n.7134+209_7134+211delinsAGT) c.7116+209_7116+211delinsAGT (n.7116+209_7116+211delinsAGT) | |
1 | g.158612607C>A | CA2648555426 | SPTA1 | c.7134+210G>T (n.7134+210G>T) c.7116+210G>T (n.7116+210G>T) | gnomAD v4 |
1 | g.158612610_158612611del | CA31250377 | SPTA1 | c.7134+209_7134+210del (n.7134+209_7134+210del) c.7116+209_7116+210del (n.7116+209_7116+210del) | dbSNP |
1 | g.158612608T>A | CA2648555427 | SPTA1 | c.7134+209A>T (n.7134+209A>T) c.7116+209A>T (n.7116+209A>T) | gnomAD v4 |
1 | g.158612609C>A | CA2648555428 | SPTA1 | c.7134+208G>T (n.7134+208G>T) c.7116+208G>T (n.7116+208G>T) | gnomAD v4 |
1 | g.158612610T>A | CA2648555429 | SPTA1 | c.7134+207A>T (n.7134+207A>T) c.7116+207A>T (n.7116+207A>T) | gnomAD v4 |
1 | g.158612610T>C | CA889965532 | SPTA1 | c.7134+207A>G (n.7134+207A>G) c.7116+207A>G (n.7116+207A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612610T= | CA1201536805 | SPTA1 | c.7134+207A= (n.7134+207A=) c.7116+207A= (n.7116+207A=) | |
1 | g.158612611C>A | CA2648555430 | SPTA1 | c.7134+206G>T (n.7134+206G>T) c.7116+206G>T (n.7116+206G>T) | gnomAD v4 |
1 | g.158612611C>G | CA2648555431 | SPTA1 | c.7134+206G>C (n.7134+206G>C) c.7116+206G>C (n.7116+206G>C) | gnomAD v4 |
1 | g.158612611C>T | CA2648555432 | SPTA1 | c.7134+206G>A (n.7134+206G>A) c.7116+206G>A (n.7116+206G>A) | gnomAD v4 |
1 | g.158612612A>C | CA2648555433 | SPTA1 | c.7134+205T>G (n.7134+205T>G) c.7116+205T>G (n.7116+205T>G) | gnomAD v4 |
1 | g.158612612A>G | CA2648555435 | SPTA1 | c.7134+205T>C (n.7134+205T>C) c.7116+205T>C (n.7116+205T>C) | gnomAD v4 |
1 | g.158612612A>T | CA2648555434 | SPTA1 | c.7134+205T>A (n.7134+205T>A) c.7116+205T>A (n.7116+205T>A) | gnomAD v4 |
1 | g.158612613C>A | CA2648555436 | SPTA1 | c.7134+204G>T (n.7134+204G>T) c.7116+204G>T (n.7116+204G>T) | gnomAD v4 |
1 | g.158612613C= | CA1201536806 | SPTA1 | c.7134+204G= (n.7134+204G=) c.7116+204G= (n.7116+204G=) | |
1 | g.158612613C>G | CA2648555437 | SPTA1 | c.7134+204G>C (n.7134+204G>C) c.7116+204G>C (n.7116+204G>C) | gnomAD v4 |
1 | g.158612613C>T | CA1201536807 | SPTA1 | c.7134+204G>A (n.7134+204G>A) c.7116+204G>A (n.7116+204G>A) | dbSNP gnomAD v4 |
1 | g.158612614A>C | CA2648555438 | SPTA1 | c.7134+203T>G (n.7134+203T>G) c.7116+203T>G (n.7116+203T>G) | gnomAD v4 |
1 | g.158612614A>T | CA2648555439 | SPTA1 | c.7134+203T>A (n.7134+203T>A) c.7116+203T>A (n.7116+203T>A) | gnomAD v4 |
1 | g.158612615T>A | CA2648555440 | SPTA1 | c.7134+202A>T (n.7134+202A>T) c.7116+202A>T (n.7116+202A>T) | gnomAD v4 |
1 | g.158612615T>C | CA2648555441 | SPTA1 | c.7134+202A>G (n.7134+202A>G) c.7116+202A>G (n.7116+202A>G) | gnomAD v4 |
1 | g.158612615T>G | CA2648555442 | SPTA1 | c.7134+202A>C (n.7134+202A>C) c.7116+202A>C (n.7116+202A>C) | gnomAD v4 |
1 | g.158612616T>A | CA2648555443 | SPTA1 | c.7134+201A>T (n.7134+201A>T) c.7116+201A>T (n.7116+201A>T) | gnomAD v4 |
1 | g.158612616T>C | CA2648555444 | SPTA1 | c.7134+201A>G (n.7134+201A>G) c.7116+201A>G (n.7116+201A>G) | gnomAD v4 |
1 | g.158612616T>G | CA2648555445 | SPTA1 | c.7134+201A>C (n.7134+201A>C) c.7116+201A>C (n.7116+201A>C) | gnomAD v4 |
1 | g.158612617C>A | CA2648555448 | SPTA1 | c.7134+200G>T (n.7134+200G>T) c.7116+200G>T (n.7116+200G>T) | gnomAD v4 |
1 | g.158612617C>G | CA2648555447 | SPTA1 | c.7134+200G>C (n.7134+200G>C) c.7116+200G>C (n.7116+200G>C) | gnomAD v4 |
1 | g.158612617C>T | CA2648555446 | SPTA1 | c.7134+200G>A (n.7134+200G>A) c.7116+200G>A (n.7116+200G>A) | gnomAD v4 |
1 | g.158612618A>G | CA2648555449 | SPTA1 | c.7134+199T>C (n.7134+199T>C) c.7116+199T>C (n.7116+199T>C) | gnomAD v4 |
1 | g.158612618A>T | CA2648555450 | SPTA1 | c.7134+199T>A (n.7134+199T>A) c.7116+199T>A (n.7116+199T>A) | gnomAD v4 |
1 | g.158612619A>G | CA2648555451 | SPTA1 | c.7134+198T>C (n.7134+198T>C) c.7116+198T>C (n.7116+198T>C) | gnomAD v4 |
1 | g.158612619A>T | CA2648555452 | SPTA1 | c.7134+198T>A (n.7134+198T>A) c.7116+198T>A (n.7116+198T>A) | gnomAD v4 |
1 | g.158612620T>A | CA2648555453 | SPTA1 | c.7134+197A>T (n.7134+197A>T) c.7116+197A>T (n.7116+197A>T) | gnomAD v4 |
1 | g.158612620T>C | CA1201536809 | SPTA1 | c.7134+197A>G (n.7134+197A>G) c.7116+197A>G (n.7116+197A>G) | dbSNP gnomAD v4 |
1 | g.158612620T>G | CA2648555454 | SPTA1 | c.7134+197A>C (n.7134+197A>C) c.7116+197A>C (n.7116+197A>C) | gnomAD v4 |
1 | g.158612620T= | CA1201536808 | SPTA1 | c.7134+197A= (n.7134+197A=) c.7116+197A= (n.7116+197A=) | |
1 | g.158612621A>C | CA2648555455 | SPTA1 | c.7134+196T>G (n.7134+196T>G) c.7116+196T>G (n.7116+196T>G) | gnomAD v4 |
1 | g.158612621A>G | CA2531560807 | SPTA1 | c.7134+196T>C (n.7134+196T>C) c.7116+196T>C (n.7116+196T>C) | gnomAD v4 |
1 | g.158612621A>T | CA2648555456 | SPTA1 | c.7134+196T>A (n.7134+196T>A) c.7116+196T>A (n.7116+196T>A) | gnomAD v4 |
1 | g.158612622G>T | CA2648555457 | SPTA1 | c.7134+195C>A (n.7134+195C>A) c.7116+195C>A (n.7116+195C>A) | gnomAD v4 |
1 | g.158612623A>G | CA2648555459 | SPTA1 | c.7134+194T>C (n.7134+194T>C) c.7116+194T>C (n.7116+194T>C) | gnomAD v4 |
1 | g.158612624_158612626dup | CA2648555458 | SPTA1 | c.7134+192_7134+194dup (n.7134+192_7134+194dup) c.7116+192_7116+194dup (n.7116+192_7116+194dup) | gnomAD v4 |
1 | g.158612624G>A | CA2648555460 | SPTA1 | c.7134+193C>T (n.7134+193C>T) c.7116+193C>T (n.7116+193C>T) | gnomAD v4 |
1 | g.158612624G>C | CA889965535 | SPTA1 | c.7134+193C>G (n.7134+193C>G) c.7116+193C>G (n.7116+193C>G) | dbSNP |
1 | g.158612624G= | CA1201536810 | SPTA1 | c.7134+193C= (n.7134+193C=) c.7116+193C= (n.7116+193C=) | |
1 | g.158612624G>T | CA2648555461 | SPTA1 | c.7134+193C>A (n.7134+193C>A) c.7116+193C>A (n.7116+193C>A) | gnomAD v4 |
1 | g.158612625T>A | CA2648555462 | SPTA1 | c.7134+192A>T (n.7134+192A>T) c.7116+192A>T (n.7116+192A>T) | gnomAD v4 |
1 | g.158612625T>C | CA2648555464 | SPTA1 | c.7134+192A>G (n.7134+192A>G) c.7116+192A>G (n.7116+192A>G) | gnomAD v4 |
1 | g.158612625T>G | CA2648555463 | SPTA1 | c.7134+192A>C (n.7134+192A>C) c.7116+192A>C (n.7116+192A>C) | gnomAD v4 |
1 | g.158612626A>G | CA2648555465 | SPTA1 | c.7134+191T>C (n.7134+191T>C) c.7116+191T>C (n.7116+191T>C) | gnomAD v4 |
1 | g.158612626A>T | CA2648555466 | SPTA1 | c.7134+191T>A (n.7134+191T>A) c.7116+191T>A (n.7116+191T>A) | gnomAD v4 |
1 | g.158612627C>A | CA2648555467 | SPTA1 | c.7134+190G>T (n.7134+190G>T) c.7116+190G>T (n.7116+190G>T) | gnomAD v4 |
1 | g.158612627C= | CA1201536811 | SPTA1 | c.7134+190G= (n.7134+190G=) c.7116+190G= (n.7116+190G=) | |
1 | g.158612627C>G | CA2648555468 | SPTA1 | c.7134+190G>C (n.7134+190G>C) c.7116+190G>C (n.7116+190G>C) | gnomAD v4 |
1 | g.158612627C>T | CA889965536 | SPTA1 | c.7134+190G>A (n.7134+190G>A) c.7116+190G>A (n.7116+190G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612628C>A | CA2648555469 | SPTA1 | c.7134+189G>T (n.7134+189G>T) c.7116+189G>T (n.7116+189G>T) | gnomAD v4 |
1 | g.158612628C>G | CA2648555470 | SPTA1 | c.7134+189G>C (n.7134+189G>C) c.7116+189G>C (n.7116+189G>C) | gnomAD v4 |
1 | g.158612628C>T | CA2648555471 | SPTA1 | c.7134+189G>A (n.7134+189G>A) c.7116+189G>A (n.7116+189G>A) | gnomAD v4 |
1 | g.158612629A= | CA1145068888 | SPTA1 | c.7134+188T= (n.7134+188T=) c.7116+188T= (n.7116+188T=) | |
1 | g.158612629A>C | CA31250382 | SPTA1 | c.7134+188T>G (n.7134+188T>G) c.7116+188T>G (n.7116+188T>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612629A>G | CA2648555472 | SPTA1 | c.7134+188T>C (n.7134+188T>C) c.7116+188T>C (n.7116+188T>C) | gnomAD v4 |
1 | g.158612629A>T | CA2648555473 | SPTA1 | c.7134+188T>A (n.7134+188T>A) c.7116+188T>A (n.7116+188T>A) | gnomAD v4 |
1 | g.158612630C>A | CA2648555474 | SPTA1 | c.7134+187G>T (n.7134+187G>T) c.7116+187G>T (n.7116+187G>T) | gnomAD v4 |
1 | g.158612630C= | CA1144532704 | SPTA1 | c.7134+187G= (n.7134+187G=) c.7116+187G= (n.7116+187G=) | |
1 | g.158612630C>G | CA2648555475 | SPTA1 | c.7134+187G>C (n.7134+187G>C) c.7116+187G>C (n.7116+187G>C) | gnomAD v4 |
1 | g.158612630C>T | CA31250387 | SPTA1 | c.7134+187G>A (n.7134+187G>A) c.7116+187G>A (n.7116+187G>A) | dbSNP gnomAD v4 |
1 | g.158612631A= | CA1201536812 | SPTA1 | c.7134+186T= (n.7134+186T=) c.7116+186T= (n.7116+186T=) | |
1 | g.158612631A>C | CA2648555477 | SPTA1 | c.7134+186T>G (n.7134+186T>G) c.7116+186T>G (n.7116+186T>G) | gnomAD v4 |
1 | g.158612631A>G | CA889965538 | SPTA1 | c.7134+186T>C (n.7134+186T>C) c.7116+186T>C (n.7116+186T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612631A>T | CA2648555476 | SPTA1 | c.7134+186T>A (n.7134+186T>A) c.7116+186T>A (n.7116+186T>A) | gnomAD v4 |
1 | g.158612632G>A | CA2648555478 | SPTA1 | c.7134+185C>T (n.7134+185C>T) c.7116+185C>T (n.7116+185C>T) | gnomAD v4 |
1 | g.158612632G= | CA1201536813 | SPTA1 | c.7134+185C= (n.7134+185C=) c.7116+185C= (n.7116+185C=) | |
1 | g.158612632G>T | CA889965542 | SPTA1 | c.7134+185C>A (n.7134+185C>A) c.7116+185C>A (n.7116+185C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612633T>A | CA2648555479 | SPTA1 | c.7134+184A>T (n.7134+184A>T) c.7116+184A>T (n.7116+184A>T) | gnomAD v4 |
1 | g.158612633T>C | CA889965544 | SPTA1 | c.7134+184A>G (n.7134+184A>G) c.7116+184A>G (n.7116+184A>G) | dbSNP |
1 | g.158612633T= | CA1201536814 | SPTA1 | c.7134+184A= (n.7134+184A=) c.7116+184A= (n.7116+184A=) | |
1 | g.158612634A>G | CA2648555480 | SPTA1 | c.7134+183T>C (n.7134+183T>C) c.7116+183T>C (n.7116+183T>C) | gnomAD v4 |
1 | g.158612634A>T | CA2648555481 | SPTA1 | c.7134+183T>A (n.7134+183T>A) c.7116+183T>A (n.7116+183T>A) | gnomAD v4 |
1 | g.158612635C>A | CA1201536816 | SPTA1 | c.7134+182G>T (n.7134+182G>T) c.7116+182G>T (n.7116+182G>T) | dbSNP gnomAD v4 |
1 | g.158612635C= | CA1201536815 | SPTA1 | c.7134+182G= (n.7134+182G=) c.7116+182G= (n.7116+182G=) | |
1 | g.158612635C>T | CA1201536817 | SPTA1 | c.7134+182G>A (n.7134+182G>A) c.7116+182G>A (n.7116+182G>A) | dbSNP gnomAD v4 |
1 | g.158612635_158612636insA | CA2648555482 | SPTA1 | c.7134+181_7134+182insT (n.7134+181_7134+182insT) c.7116+181_7116+182insT (n.7116+181_7116+182insT) | gnomAD v4 |
1 | g.158612636G>A | CA16067732 | SPTA1 | c.7134+181C>T (n.7134+181C>T) c.7116+181C>T (n.7116+181C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612636G= | CA1139943757 | SPTA1 | c.7134+181C= (n.7134+181C=) c.7116+181C= (n.7116+181C=) | |
1 | g.158612636G>T | CA2648555483 | SPTA1 | c.7134+181C>A (n.7134+181C>A) c.7116+181C>A (n.7116+181C>A) | gnomAD v4 |
1 | g.158612637T>A | CA2648555484 | SPTA1 | c.7134+180A>T (n.7134+180A>T) c.7116+180A>T (n.7116+180A>T) | gnomAD v4 |
1 | g.158612638T>A | CA2648555485 | SPTA1 | c.7134+179A>T (n.7134+179A>T) c.7116+179A>T (n.7116+179A>T) | gnomAD v4 |
1 | g.158612639T>G | CA2648555486 | SPTA1 | c.7134+178A>C (n.7134+178A>C) c.7116+178A>C (n.7116+178A>C) | gnomAD v4 |
1 | g.158612640T>C | CA2648555487 | SPTA1 | c.7134+177A>G (n.7134+177A>G) c.7116+177A>G (n.7116+177A>G) | gnomAD v4 |
1 | g.158612641T>C | CA2648555488 | SPTA1 | c.7134+176A>G (n.7134+176A>G) c.7116+176A>G (n.7116+176A>G) | gnomAD v4 |
1 | g.158612641T>G | CA2648555489 | SPTA1 | c.7134+176A>C (n.7134+176A>C) c.7116+176A>C (n.7116+176A>C) | gnomAD v4 |
1 | g.158612642del | CA2648555490 | SPTA1 | c.7134+175del (n.7134+175del) c.7116+175del (n.7116+175del) | gnomAD v4 |
1 | g.158612642G= | CA1143315652 | SPTA1 | c.7134+175C= (n.7134+175C=) c.7116+175C= (n.7116+175C=) | |
1 | g.158612642G>T | CA31250391 | SPTA1 | c.7134+175C>A (n.7134+175C>A) c.7116+175C>A (n.7116+175C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.158612642_158612644del | CA2648555491 | SPTA1 | c.7134+173_7134+175del (n.7134+173_7134+175del) c.7116+173_7116+175del (n.7116+173_7116+175del) | gnomAD v4 |
1 | g.158612643A>G | CA2648555492 | SPTA1 | c.7134+174T>C (n.7134+174T>C) c.7116+174T>C (n.7116+174T>C) | gnomAD v4 |
1 | g.158612643A>T | CA2648555493 | SPTA1 | c.7134+174T>A (n.7134+174T>A) c.7116+174T>A (n.7116+174T>A) | gnomAD v4 |
1 | g.158612644G>T | CA2648555494 | SPTA1 | c.7134+173C>A (n.7134+173C>A) c.7116+173C>A (n.7116+173C>A) | gnomAD v4 |
1 | g.158612645T>A | CA2648555495 | SPTA1 | c.7134+172A>T (n.7134+172A>T) c.7116+172A>T (n.7116+172A>T) | gnomAD v4 |
1 | g.158612645T>G | CA2648555496 | SPTA1 | c.7134+172A>C (n.7134+172A>C) c.7116+172A>C (n.7116+172A>C) | gnomAD v4 |
1 | g.158612646T>A | CA2648555497 | SPTA1 | c.7134+171A>T (n.7134+171A>T) c.7116+171A>T (n.7116+171A>T) | gnomAD v4 |
1 | g.158612646T>G | CA2648555498 | SPTA1 | c.7134+171A>C (n.7134+171A>C) c.7116+171A>C (n.7116+171A>C) | gnomAD v4 |
1 | g.158612647G>T | CA2648555499 | SPTA1 | c.7134+170C>A (n.7134+170C>A) c.7116+170C>A (n.7116+170C>A) | gnomAD v4 |
1 | g.158612647_158612649del | CA2746290239 | SPTA1 | c.7134+168_7134+170del (n.7134+168_7134+170del) c.7116+168_7116+170del (n.7116+168_7116+170del) | |
1 | g.158612647_158612652del | CA2746290240 | SPTA1 | c.7134+165_7134+170del (n.7134+165_7134+170del) c.7116+165_7116+170del (n.7116+165_7116+170del) | |
1 | g.158612647_158612654del | CA2746290241 | SPTA1 | c.7134+163_7134+170del (n.7134+163_7134+170del) c.7116+163_7116+170del (n.7116+163_7116+170del) | |
1 | g.158612648G>A | CA889965548 | SPTA1 | c.7134+169C>T (n.7134+169C>T) c.7116+169C>T (n.7116+169C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612648G= | CA1201536818 | SPTA1 | c.7134+169C= (n.7134+169C=) c.7116+169C= (n.7116+169C=) | |
1 | g.158612648G>T | CA2648555500 | SPTA1 | c.7134+169C>A (n.7134+169C>A) c.7116+169C>A (n.7116+169C>A) | gnomAD v4 |
1 | g.158612649G>A | CA2648555501 | SPTA1 | c.7134+168C>T (n.7134+168C>T) c.7116+168C>T (n.7116+168C>T) | gnomAD v4 |
1 | g.158612649G>T | CA2648555502 | SPTA1 | c.7134+168C>A (n.7134+168C>A) c.7116+168C>A (n.7116+168C>A) | gnomAD v4 |
1 | g.158612650T>G | CA2648555503 | SPTA1 | c.7134+167A>C (n.7134+167A>C) c.7116+167A>C (n.7116+167A>C) | gnomAD v4 |
1 | g.158612651C>A | CA31250392 | SPTA1 | c.7134+166G>T (n.7134+166G>T) c.7116+166G>T (n.7116+166G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612651C= | CA1201536819 | SPTA1 | c.7134+166G= (n.7134+166G=) c.7116+166G= (n.7116+166G=) | |
1 | g.158612651C>G | CA526546859 | SPTA1 | c.7134+166G>C (n.7134+166G>C) c.7116+166G>C (n.7116+166G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.158612651C>T | CA2648555504 | SPTA1 | c.7134+166G>A (n.7134+166G>A) c.7116+166G>A (n.7116+166G>A) | gnomAD v4 |
1 | g.158612652A>C | CA2648555505 | SPTA1 | c.7134+165T>G (n.7134+165T>G) c.7116+165T>G (n.7116+165T>G) | gnomAD v4 |
1 | g.158612652A>G | CA2648555506 | SPTA1 | c.7134+165T>C (n.7134+165T>C) c.7116+165T>C (n.7116+165T>C) | gnomAD v4 |
1 | g.158612652A>T | CA2746290242 | SPTA1 | c.7134+165T>A (n.7134+165T>A) c.7116+165T>A (n.7116+165T>A) | |
1 | g.158612654G>A | CA1201536821 | SPTA1 | c.7134+163C>T (n.7134+163C>T) c.7116+163C>T (n.7116+163C>T) | dbSNP gnomAD v4 |
1 | g.158612654G= | CA1201536820 | SPTA1 | c.7134+163C= (n.7134+163C=) c.7116+163C= (n.7116+163C=) | |
1 | g.158612654G>T | CA2648555507 | SPTA1 | c.7134+163C>A (n.7134+163C>A) c.7116+163C>A (n.7116+163C>A) | gnomAD v4 |
1 | g.158612655A= | CA1201536822 | SPTA1 | c.7134+162T= (n.7134+162T=) c.7116+162T= (n.7116+162T=) | |
1 | g.158612655A>G | CA2648555508 | SPTA1 | c.7134+162T>C (n.7134+162T>C) c.7116+162T>C (n.7116+162T>C) | gnomAD v4 |
1 | g.158612655A>T | CA31250393 | SPTA1 | c.7134+162T>A (n.7134+162T>A) c.7116+162T>A (n.7116+162T>A) | dbSNP gnomAD v4 |
1 | g.158612656C>A | CA646235464 | SPTA1 | c.7134+161G>T (n.7134+161G>T) c.7116+161G>T (n.7116+161G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.158612656C= | CA1201536823 | SPTA1 | c.7134+161G= (n.7134+161G=) c.7116+161G= (n.7116+161G=) | |
1 | g.158612656C>G | CA2648555510 | SPTA1 | c.7134+161G>C (n.7134+161G>C) c.7116+161G>C (n.7116+161G>C) | gnomAD v4 |
1 | g.158612656C>T | CA2648555509 | SPTA1 | c.7134+161G>A (n.7134+161G>A) c.7116+161G>A (n.7116+161G>A) | gnomAD v4 |
1 | g.158612657A>T | CA2648555511 | SPTA1 | c.7134+160T>A (n.7134+160T>A) c.7116+160T>A (n.7116+160T>A) | gnomAD v4 |
1 | g.158612659A>G | CA2648555512 | SPTA1 | c.7134+158T>C (n.7134+158T>C) c.7116+158T>C (n.7116+158T>C) | gnomAD v4 |
1 | g.158612659A>T | CA2648555513 | SPTA1 | c.7134+158T>A (n.7134+158T>A) c.7116+158T>A (n.7116+158T>A) | gnomAD v4 |
1 | g.158612660A>T | CA2648555514 | SPTA1 | c.7134+157T>A (n.7134+157T>A) c.7116+157T>A (n.7116+157T>A) | gnomAD v4 |
1 | g.158612661T>A | CA2648555515 | SPTA1 | c.7134+156A>T (n.7134+156A>T) c.7116+156A>T (n.7116+156A>T) | gnomAD v4 |
1 | g.158612661T>C | CA889965553 | SPTA1 | c.7134+156A>G (n.7134+156A>G) c.7116+156A>G (n.7116+156A>G) | dbSNP gnomAD v4 |
1 | g.158612661T>G | CA889965556 | SPTA1 | c.7134+156A>C (n.7134+156A>C) c.7116+156A>C (n.7116+156A>C) | dbSNP gnomAD v4 |
1 | g.158612661T= | CA1201536824 | SPTA1 | c.7134+156A= (n.7134+156A=) c.7116+156A= (n.7116+156A=) | |
1 | g.158612662G>A | CA2648555516 | SPTA1 | c.7134+155C>T (n.7134+155C>T) c.7116+155C>T (n.7116+155C>T) | gnomAD v4 |
1 | g.158612662G>T | CA2648555517 | SPTA1 | c.7134+155C>A (n.7134+155C>A) c.7116+155C>A (n.7116+155C>A) | gnomAD v4 |
1 | g.158612663A>G | CA2648555518 | SPTA1 | c.7134+154T>C (n.7134+154T>C) c.7116+154T>C (n.7116+154T>C) | gnomAD v4 |
1 | g.158612663A>T | CA2648555519 | SPTA1 | c.7134+154T>A (n.7134+154T>A) c.7116+154T>A (n.7116+154T>A) | gnomAD v4 |
1 | g.158612664A>G | CA2648555520 | SPTA1 | c.7134+153T>C (n.7134+153T>C) c.7116+153T>C (n.7116+153T>C) | gnomAD v4 |
1 | g.158612665G>A | CA1008228987 | SPTA1 | c.7134+152C>T (n.7134+152C>T) c.7116+152C>T (n.7116+152C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612665G= | CA1201536825 | SPTA1 | c.7134+152C= (n.7134+152C=) c.7116+152C= (n.7116+152C=) | |
1 | g.158612666T>A | CA2648555521 | SPTA1 | c.7134+151A>T (n.7134+151A>T) c.7116+151A>T (n.7116+151A>T) | gnomAD v4 |
1 | g.158612666T>G | CA2648555522 | SPTA1 | c.7134+151A>C (n.7134+151A>C) c.7116+151A>C (n.7116+151A>C) | gnomAD v4 |
1 | g.158612667G>A | CA2648555523 | SPTA1 | c.7134+150C>T (n.7134+150C>T) c.7116+150C>T (n.7116+150C>T) | gnomAD v4 |
1 | g.158612667G>T | CA2648555524 | SPTA1 | c.7134+150C>A (n.7134+150C>A) c.7116+150C>A (n.7116+150C>A) | gnomAD v4 |
1 | g.158612668G>T | CA2648555525 | SPTA1 | c.7134+149C>A (n.7134+149C>A) c.7116+149C>A (n.7116+149C>A) | gnomAD v4 |
1 | g.158612670T>C | CA2648555526 | SPTA1 | c.7134+147A>G (n.7134+147A>G) c.7116+147A>G (n.7116+147A>G) | gnomAD v4 |
1 | g.158612670T>G | CA2648555527 | SPTA1 | c.7134+147A>C (n.7134+147A>C) c.7116+147A>C (n.7116+147A>C) | gnomAD v4 |
1 | g.158612672C>A | CA1008228989 | SPTA1 | c.7134+145G>T (n.7134+145G>T) c.7116+145G>T (n.7116+145G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612672C= | CA1201536826 | SPTA1 | c.7134+145G= (n.7134+145G=) c.7116+145G= (n.7116+145G=) | |
1 | g.158612673C>A | CA2648555528 | SPTA1 | c.7134+144G>T (n.7134+144G>T) c.7116+144G>T (n.7116+144G>T) | gnomAD v4 |
1 | g.158612673C= | CA1201536827 | SPTA1 | c.7134+144G= (n.7134+144G=) c.7116+144G= (n.7116+144G=) | |
1 | g.158612673C>G | CA1008228990 | SPTA1 | c.7134+144G>C (n.7134+144G>C) c.7116+144G>C (n.7116+144G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612673C>T | CA2648555529 | SPTA1 | c.7134+144G>A (n.7134+144G>A) c.7116+144G>A (n.7116+144G>A) | gnomAD v4 |
1 | g.158612674A>G | CA2648555530 | SPTA1 | c.7134+143T>C (n.7134+143T>C) c.7116+143T>C (n.7116+143T>C) | gnomAD v4 |
1 | g.158612677G>A | CA2648555531 | SPTA1 | c.7134+140C>T (n.7134+140C>T) c.7116+140C>T (n.7116+140C>T) | gnomAD v4 |
1 | g.158612677G>C | CA889965559 | SPTA1 | c.7134+140C>G (n.7134+140C>G) c.7116+140C>G (n.7116+140C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612677G= | CA1201536828 | SPTA1 | c.7134+140C= (n.7134+140C=) c.7116+140C= (n.7116+140C=) | |
1 | g.158612677G>T | CA2648555532 | SPTA1 | c.7134+140C>A (n.7134+140C>A) c.7116+140C>A (n.7116+140C>A) | dbSNP gnomAD v4 |
1 | g.158612678C>A | CA1008228994 | SPTA1 | c.7134+139G>T (n.7134+139G>T) c.7116+139G>T (n.7116+139G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612678C= | CA1201536829 | SPTA1 | c.7134+139G= (n.7134+139G=) c.7116+139G= (n.7116+139G=) | |
1 | g.158612678C>G | CA2648555533 | SPTA1 | c.7134+139G>C (n.7134+139G>C) c.7116+139G>C (n.7116+139G>C) | gnomAD v4 |
1 | g.158612679A= | CA1201536830 | SPTA1 | c.7134+138T= (n.7134+138T=) c.7116+138T= (n.7116+138T=) | |
1 | g.158612679A>C | CA2648555535 | SPTA1 | c.7134+138T>G (n.7134+138T>G) c.7116+138T>G (n.7116+138T>G) | gnomAD v4 |
1 | g.158612679A>G | CA1008228996 | SPTA1 | c.7134+138T>C (n.7134+138T>C) c.7116+138T>C (n.7116+138T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612679A>T | CA2648555534 | SPTA1 | c.7134+138T>A (n.7134+138T>A) c.7116+138T>A (n.7116+138T>A) | gnomAD v4 |
1 | g.158612680A>G | CA2549330709 | SPTA1 | c.7134+137T>C (n.7134+137T>C) c.7116+137T>C (n.7116+137T>C) | |
1 | g.158612682T>A | CA2648555536 | SPTA1 | c.7134+135A>T (n.7134+135A>T) c.7116+135A>T (n.7116+135A>T) | gnomAD v4 |
1 | g.158612682T>C | CA2648555537 | SPTA1 | c.7134+135A>G (n.7134+135A>G) c.7116+135A>G (n.7116+135A>G) | gnomAD v4 |
1 | g.158612682T>G | CA1008229009 | SPTA1 | c.7134+135A>C (n.7134+135A>C) c.7116+135A>C (n.7116+135A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612682T= | CA1201536831 | SPTA1 | c.7134+135A= (n.7134+135A=) c.7116+135A= (n.7116+135A=) | |
1 | g.158612683G>T | CA2648555538 | SPTA1 | c.7134+134C>A (n.7134+134C>A) c.7116+134C>A (n.7116+134C>A) | gnomAD v4 |
1 | g.158612684A>T | CA2648555539 | SPTA1 | c.7134+133T>A (n.7134+133T>A) c.7116+133T>A (n.7116+133T>A) | gnomAD v4 |
1 | g.158612685C>A | CA2648555540 | SPTA1 | c.7134+132G>T (n.7134+132G>T) c.7116+132G>T (n.7116+132G>T) | gnomAD v4 |
1 | g.158612685C>T | CA2648555541 | SPTA1 | c.7134+132G>A (n.7134+132G>A) c.7116+132G>A (n.7116+132G>A) | gnomAD v4 |
1 | g.158612686A= | CA1201536832 | SPTA1 | c.7134+131T= (n.7134+131T=) c.7116+131T= (n.7116+131T=) | |
1 | g.158612686A>G | CA31250396 | SPTA1 | c.7134+131T>C (n.7134+131T>C) c.7116+131T>C (n.7116+131T>C) | dbSNP |
1 | g.158612687T>A | CA2648555542 | SPTA1 | c.7134+130A>T (n.7134+130A>T) c.7116+130A>T (n.7116+130A>T) | gnomAD v4 |
1 | g.158612687T>C | CA889965560 | SPTA1 | c.7134+130A>G (n.7134+130A>G) c.7116+130A>G (n.7116+130A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.158612687T= | CA1201536833 | SPTA1 | c.7134+130A= (n.7134+130A=) c.7116+130A= (n.7116+130A=) | |
1 | g.158612688C>A | CA2648555543 | SPTA1 | c.7134+129G>T (n.7134+129G>T) c.7116+129G>T (n.7116+129G>T) | gnomAD v4 |
1 | g.158612688C>G | CA2648555544 | SPTA1 | c.7134+129G>C (n.7134+129G>C) c.7116+129G>C (n.7116+129G>C) | gnomAD v4 |
1 | g.158612689T>C | CA2648555545 | SPTA1 | c.7134+128A>G (n.7134+128A>G) c.7116+128A>G (n.7116+128A>G) | gnomAD v4 |
1 | g.158612690T>G | CA2648555546 | SPTA1 | c.7134+127A>C (n.7134+127A>C) c.7116+127A>C (n.7116+127A>C) | gnomAD v4 |
1 | g.158612691G>A | CA2648555547 | SPTA1 | c.7134+126C>T (n.7134+126C>T) c.7116+126C>T (n.7116+126C>T) | gnomAD v4 |
1 | g.158612691G>T | CA2648555548 | SPTA1 | c.7134+126C>A (n.7134+126C>A) c.7116+126C>A (n.7116+126C>A) | gnomAD v4 |
1 | g.158612692T>C | CA1201536835 | SPTA1 | c.7134+125A>G (n.7134+125A>G) c.7116+125A>G (n.7116+125A>G) | dbSNP gnomAD v4 |
1 | g.158612692T>G | CA2648555549 | SPTA1 | c.7134+125A>C (n.7134+125A>C) c.7116+125A>C (n.7116+125A>C) | gnomAD v4 |
1 | g.158612692T= | CA1201536834 | SPTA1 | c.7134+125A= (n.7134+125A=) c.7116+125A= (n.7116+125A=) | |
1 | g.158612693G>A | CA2648555550 | SPTA1 | c.7134+124C>T (n.7134+124C>T) c.7116+124C>T (n.7116+124C>T) | gnomAD v4 |
1 | g.158612693G>T | CA2648555551 | SPTA1 | c.7134+124C>A (n.7134+124C>A) c.7116+124C>A (n.7116+124C>A) | gnomAD v4 |
1 | g.158612693_158612694delinsGA | CA1201536836 | SPTA1 | c.7134+123_7134+124delinsTC (n.7134+123_7134+124delinsTC) c.7116+123_7116+124delinsTC (n.7116+123_7116+124delinsTC) | |
1 | g.158612694A= | CA1201536837 | SPTA1 | c.7134+123T= (n.7134+123T=) c.7116+123T= (n.7116+123T=) | |
1 | g.158612694A>C | CA1201536839 | SPTA1 | c.7134+123T>G (n.7134+123T>G) c.7116+123T>G (n.7116+123T>G) | dbSNP |
1 | g.158612694A>G | CA1201536838 | SPTA1 | c.7134+123T>C (n.7134+123T>C) c.7116+123T>C (n.7116+123T>C) | dbSNP |
1 | g.158612694A>T | CA2648555552 | SPTA1 | c.7134+123T>A (n.7134+123T>A) c.7116+123T>A (n.7116+123T>A) | gnomAD v4 |
1 | g.158612696del | CA889965561 | SPTA1 | c.7134+123del (n.7134+123del) c.7116+123del (n.7116+123del) | dbSNP gnomAD v4 |
1 | g.158612695A>G | CA2648555553 | SPTA1 | c.7134+122T>C (n.7134+122T>C) c.7116+122T>C (n.7116+122T>C) | gnomAD v4 |
1 | g.158612696A>C | CA2648555554 | SPTA1 | c.7134+121T>G (n.7134+121T>G) c.7116+121T>G (n.7116+121T>G) | gnomAD v4 |
1 | g.158612696A>G | CA2648555555 | SPTA1 | c.7134+121T>C (n.7134+121T>C) c.7116+121T>C (n.7116+121T>C) | gnomAD v4 |
1 | g.158612696A>T | CA2648555556 | SPTA1 | c.7134+121T>A (n.7134+121T>A) c.7116+121T>A (n.7116+121T>A) | gnomAD v4 |
1 | g.158612697G>A | CA2648555557 | SPTA1 | c.7134+120C>T (n.7134+120C>T) c.7116+120C>T (n.7116+120C>T) | dbSNP gnomAD v4 |
1 | g.158612697G>T | CA2648555558 | SPTA1 | c.7134+120C>A (n.7134+120C>A) c.7116+120C>A (n.7116+120C>A) | gnomAD v4 |
1 | g.158612698G>A | CA2648555559 | SPTA1 | c.7134+119C>T (n.7134+119C>T) c.7116+119C>T (n.7116+119C>T) | gnomAD v4 |
1 | g.158612698G>C | CA2564050302 | SPTA1 | c.7134+119C>G (n.7134+119C>G) c.7116+119C>G (n.7116+119C>G) | gnomAD v4 |
1 | g.158612698G>T | CA2648555560 | SPTA1 | c.7134+119C>A (n.7134+119C>A) c.7116+119C>A (n.7116+119C>A) | gnomAD v4 |