| 20 | g.49905868_49905934del | CA2816621305 | SPATA2 | c.1257_1323del (p.His420AlafsTer?)
| |
| 20 | g.49905862G>A | CA9904852 | SPATA2 | c.1320C>T (p.Leu440=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905862G>C | CA511018288 | SPATA2 | c.1320C>G (p.Leu440=)
| |
| 20 | g.49905862G= | CA2368281326 | SPATA2 | c.1320C= (p.Leu440=)
| |
| 20 | g.49905862G>T | CA511018289 | SPATA2 | c.1320C>A (p.Leu440=)
| |
| 20 | g.49905863A>C | CA408946393 | SPATA2 | c.1319T>G (p.Leu440Arg)
| |
| 20 | g.49905863A>G | CA408946388 | SPATA2 | c.1319T>C (p.Leu440Pro)
| |
| 20 | g.49905863A>T | CA408946391 | SPATA2 | c.1319T>A (p.Leu440His)
| |
| 20 | g.49905864G>A | CA408946402 | SPATA2 | c.1318C>T (p.Leu440Phe)
| gnomAD v4 |
| 20 | g.49905864G>C | CA408946404 | SPATA2 | c.1318C>G (p.Leu440Val)
| gnomAD v4 |
| 20 | g.49905864G>T | CA408946406 | SPATA2 | c.1318C>A (p.Leu440Ile)
| |
| 20 | g.49905865G>A | CA511018293 | SPATA2 | c.1317C>T (p.Gly439=)
| |
| 20 | g.49905865G>C | CA511018295 | SPATA2 | c.1317C>G (p.Gly439=)
| |
| 20 | g.49905865G>T | CA511018294 | SPATA2 | c.1317C>A (p.Gly439=)
| |
| 20 | g.49905866C>A | CA408946411 | SPATA2 | c.1316G>T (p.Gly439Val)
| |
| 20 | g.49905866C>G | CA408946413 | SPATA2 | c.1316G>C (p.Gly439Ala)
| |
| 20 | g.49905866C>T | CA408946417 | SPATA2 | c.1316G>A (p.Gly439Asp)
| |
| 20 | g.49905867C>A | CA408946422 | SPATA2 | c.1315G>T (p.Gly439Cys)
| |
| 20 | g.49905867C>G | CA408946424 | SPATA2 | c.1315G>C (p.Gly439Arg)
| COSMIC |
| 20 | g.49905867C>T | CA408946427 | SPATA2 | c.1315G>A (p.Gly439Ser)
| |
| 20 | g.49905868C>A | CA408946432 | SPATA2 | c.1314G>T (p.Gln438His)
| |
| 20 | g.49905868C= | CA2368281327 | SPATA2 | c.1314G= (p.Gln438=)
| |
| 20 | g.49905868C>G | CA408946435 | SPATA2 | c.1314G>C (p.Gln438His)
| dbSNP gnomAD v4 |
| 20 | g.49905868C>T | CA511018297 | SPATA2 | c.1314G>A (p.Gln438=)
| |
| 20 | g.49905868_49905869del | CA2577424474 | SPATA2 | c.1313_1314del (p.Gln438ArgfsTer?)
| |
| 20 | g.49905868_49905870del | CA2816621307 | SPATA2 | c.1312_1314del (p.Gln438del)
| |
| 20 | g.49905869T>A | CA408946442 | SPATA2 | c.1313A>T (p.Gln438Leu)
| |
| 20 | g.49905869T>C | CA408946437 | SPATA2 | c.1313A>G (p.Gln438Arg)
| |
| 20 | g.49905869T>G | CA408946440 | SPATA2 | c.1313A>C (p.Gln438Pro)
| |
| 20 | g.49905870G>A | CA408946445 | SPATA2 | c.1312C>T (p.Gln438Ter)
| COSMIC |
| 20 | g.49905870G>C | CA9904853 | SPATA2 | c.1312C>G (p.Gln438Glu)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.49905870G= | CA2368281328 | SPATA2 | c.1312C= (p.Gln438=)
| |
| 20 | g.49905870G>T | CA408946449 | SPATA2 | c.1312C>A (p.Gln438Lys)
| |
| 20 | g.49905871A>C | CA511018301 | SPATA2 | c.1311T>G (p.Thr437=)
| |
| 20 | g.49905871A>G | CA511018302 | SPATA2 | c.1311T>C (p.Thr437=)
| |
| 20 | g.49905871A>T | CA511018303 | SPATA2 | c.1311T>A (p.Thr437=)
| |
| 20 | g.49905872G>A | CA9904854 | SPATA2 | c.1310C>T (p.Thr437Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905872G>C | CA408946456 | SPATA2 | c.1310C>G (p.Thr437Ser)
| gnomAD v4 |
| 20 | g.49905872G= | CA2368281329 | SPATA2 | c.1310C= (p.Thr437=)
| |
| 20 | g.49905872G>T | CA408946459 | SPATA2 | c.1310C>A (p.Thr437Asn)
| ClinVar |
| 20 | g.49905873T>A | CA408946463 | SPATA2 | c.1309A>T (p.Thr437Ser)
| |
| 20 | g.49905873T>C | CA408946466 | SPATA2 | c.1309A>G (p.Thr437Ala)
| |
| 20 | g.49905873T>G | CA408946469 | SPATA2 | c.1309A>C (p.Thr437Pro)
| |
| 20 | g.49905874C>A | CA408946473 | SPATA2 | c.1308G>T (p.Gln436His)
| gnomAD v4 |
| 20 | g.49905874C>G | CA408946474 | SPATA2 | c.1308G>C (p.Gln436His)
| |
| 20 | g.49905874C>T | CA511018305 | SPATA2 | c.1308G>A (p.Gln436=)
| gnomAD v4 |
| 20 | g.49905875T>A | CA408946483 | SPATA2 | c.1307A>T (p.Gln436Leu)
| |
| 20 | g.49905875T>C | CA408946481 | SPATA2 | c.1307A>G (p.Gln436Arg)
| gnomAD v4 |
| 20 | g.49905875T>G | CA408946479 | SPATA2 | c.1307A>C (p.Gln436Pro)
| |
| 20 | g.49905876G>A | CA408946486 | SPATA2 | c.1306C>T (p.Gln436Ter)
| |
| 20 | g.49905876G>C | CA408946492 | SPATA2 | c.1306C>G (p.Gln436Glu)
| |
| 20 | g.49905876G>T | CA408946489 | SPATA2 | c.1306C>A (p.Gln436Lys)
| |
| 20 | g.49905877G>A | CA511018309 | SPATA2 | c.1305C>T (p.Gly435=)
| |
| 20 | g.49905877G>C | CA511018310 | SPATA2 | c.1305C>G (p.Gly435=)
| |
| 20 | g.49905877G= | CA2368281330 | SPATA2 | c.1305C= (p.Gly435=)
| |
| 20 | g.49905877G>T | CA511018311 | SPATA2 | c.1305C>A (p.Gly435=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905878C>A | CA408946494 | SPATA2 | c.1304G>T (p.Gly435Val)
| |
| 20 | g.49905878C>G | CA408946495 | SPATA2 | c.1304G>C (p.Gly435Ala)
| |
| 20 | g.49905878C>T | CA408946496 | SPATA2 | c.1304G>A (p.Gly435Asp)
| |
| 20 | g.49905879C>A | CA408946498 | SPATA2 | c.1303G>T (p.Gly435Cys)
| |
| 20 | g.49905879C= | CA2368281331 | SPATA2 | c.1303G= (p.Gly435=)
| |
| 20 | g.49905879C>G | CA408946499 | SPATA2 | c.1303G>C (p.Gly435Arg)
| |
| 20 | g.49905879C>T | CA9904855 | SPATA2 | c.1303G>A (p.Gly435Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905880T>A | CA511018313 | SPATA2 | c.1302A>T (p.Pro434=)
| |
| 20 | g.49905880T>C | CA9904856 | SPATA2 | c.1302A>G (p.Pro434=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905880T>G | CA511018314 | SPATA2 | c.1302A>C (p.Pro434=)
| |
| 20 | g.49905880T= | CA2368281332 | SPATA2 | c.1302A= (p.Pro434=)
| |
| 20 | g.49905881G>A | CA408946502 | SPATA2 | c.1301C>T (p.Pro434Leu)
| |
| 20 | g.49905881G>C | CA408946504 | SPATA2 | c.1301C>G (p.Pro434Arg)
| |
| 20 | g.49905881G>T | CA408946506 | SPATA2 | c.1301C>A (p.Pro434Gln)
| |
| 20 | g.49905882G>A | CA408946507 | SPATA2 | c.1300C>T (p.Pro434Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905882G>C | CA9904857 | SPATA2 | c.1300C>G (p.Pro434Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905882G= | CA2368281333 | SPATA2 | c.1300C= (p.Pro434=)
| |
| 20 | g.49905882G>T | CA408946509 | SPATA2 | c.1300C>A (p.Pro434Thr)
| |
| 20 | g.49905883G>A | CA9904858 | SPATA2 | c.1299C>T (p.Tyr433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905883G>C | CA408946513 | SPATA2 | c.1299C>G (p.Tyr433Ter)
| |
| 20 | g.49905883G= | CA2368281334 | SPATA2 | c.1299C= (p.Tyr433=)
| |
| 20 | g.49905883G>T | CA408946512 | SPATA2 | c.1299C>A (p.Tyr433Ter)
| gnomAD v4 |
| 20 | g.49905884T>A | CA408946515 | SPATA2 | c.1298A>T (p.Tyr433Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905884T>C | CA408946517 | SPATA2 | c.1298A>G (p.Tyr433Cys)
| |
| 20 | g.49905884T>G | CA408946521 | SPATA2 | c.1298A>C (p.Tyr433Ser)
| |
| 20 | g.49905884T= | CA2368281335 | SPATA2 | c.1298A= (p.Tyr433=)
| |
| 20 | g.49905885A>C | CA408946523 | SPATA2 | c.1297T>G (p.Tyr433Asp)
| |
| 20 | g.49905885A>G | CA408946524 | SPATA2 | c.1297T>C (p.Tyr433His)
| |
| 20 | g.49905885A>T | CA408946525 | SPATA2 | c.1297T>A (p.Tyr433Asn)
| |
| 20 | g.49905886C>A | CA408946527 | SPATA2 | c.1296G>T (p.Lys432Asn)
| dbSNP |
| 20 | g.49905886C= | CA2368281336 | SPATA2 | c.1296G= (p.Lys432=)
| |
| 20 | g.49905886C>G | CA408946528 | SPATA2 | c.1296G>C (p.Lys432Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905886C>T | CA511018320 | SPATA2 | c.1296G>A (p.Lys432=)
| |
| 20 | g.49905887T>A | CA408946530 | SPATA2 | c.1295A>T (p.Lys432Met)
| gnomAD v4 |
| 20 | g.49905887T>C | CA408946531 | SPATA2 | c.1295A>G (p.Lys432Arg)
| |
| 20 | g.49905887T>G | CA408946533 | SPATA2 | c.1295A>C (p.Lys432Thr)
| |
| 20 | g.49905888T>A | CA408946537 | SPATA2 | c.1294A>T (p.Lys432Ter)
| |
| 20 | g.49905888T>C | CA408946535 | SPATA2 | c.1294A>G (p.Lys432Glu)
| |
| 20 | g.49905888T>G | CA408946534 | SPATA2 | c.1294A>C (p.Lys432Gln)
| |
| 20 | g.49905889C>A | CA408946541 | SPATA2 | c.1293G>T (p.Glu431Asp)
| |
| 20 | g.49905889C>G | CA408946539 | SPATA2 | c.1293G>C (p.Glu431Asp)
| |
| 20 | g.49905889C>T | CA511018324 | SPATA2 | c.1293G>A (p.Glu431=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905890T>A | CA408946544 | SPATA2 | c.1292A>T (p.Glu431Val)
| |
| 20 | g.49905890T>C | CA408946546 | SPATA2 | c.1292A>G (p.Glu431Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905890T>G | CA408946548 | SPATA2 | c.1292A>C (p.Glu431Ala)
| |
| 20 | g.49905890T= | CA2368281337 | SPATA2 | c.1292A= (p.Glu431=)
| |
| 20 | g.49905891C>A | CA408946549 | SPATA2 | c.1291G>T (p.Glu431Ter)
| |
| 20 | g.49905891C= | CA2368281338 | SPATA2 | c.1291G= (p.Glu431=)
| |
| 20 | g.49905891C>G | CA408946550 | SPATA2 | c.1291G>C (p.Glu431Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905891C>T | CA9904859 | SPATA2 | c.1291G>A (p.Glu431Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905892C>A | CA511018325 | SPATA2 | c.1290G>T (p.Arg430=)
| gnomAD v4 |
| 20 | g.49905892C>G | CA511018326 | SPATA2 | c.1290G>C (p.Arg430=)
| |
| 20 | g.49905892C>T | CA511018327 | SPATA2 | c.1290G>A (p.Arg430=)
| gnomAD v4 |
| 20 | g.49905893C>A | CA408946551 | SPATA2 | c.1289G>T (p.Arg430Leu)
| |
| 20 | g.49905893C= | CA2368281339 | SPATA2 | c.1289G= (p.Arg430=)
| |
| 20 | g.49905893C>G | CA408946552 | SPATA2 | c.1289G>C (p.Arg430Pro)
| gnomAD v4 |
| 20 | g.49905893C>T | CA9904860 | SPATA2 | c.1289G>A (p.Arg430Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905894G>A | CA9904861 | SPATA2 | c.1288C>T (p.Arg430Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905894G>C | CA408946553 | SPATA2 | c.1288C>G (p.Arg430Gly)
| |
| 20 | g.49905894G= | CA2368281340 | SPATA2 | c.1288C= (p.Arg430=)
| |
| 20 | g.49905894G>T | CA9904862 | SPATA2 | c.1288C>A (p.Arg430=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905895C>A | CA511018330 | SPATA2 | c.1287G>T (p.Leu429=)
| |
| 20 | g.49905895C= | CA2368281341 | SPATA2 | c.1287G= (p.Leu429=)
| |
| 20 | g.49905895C>G | CA315121932 | SPATA2 | c.1287G>C (p.Leu429=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905895C>T | CA511018329 | SPATA2 | c.1287G>A (p.Leu429=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905896A= | CA2368281342 | SPATA2 | c.1286T= (p.Leu429=)
| |
| 20 | g.49905896A>C | CA408946555 | SPATA2 | c.1286T>G (p.Leu429Arg)
| |
| 20 | g.49905896A>G | CA315121936 | SPATA2 | c.1286T>C (p.Leu429Pro)
| dbSNP gnomAD v4 |
| 20 | g.49905896A>T | CA408946554 | SPATA2 | c.1286T>A (p.Leu429Gln)
| |
| 20 | g.49905897G>A | CA511018332 | SPATA2 | c.1285C>T (p.Leu429=)
| |
| 20 | g.49905897G>C | CA408946556 | SPATA2 | c.1285C>G (p.Leu429Val)
| |
| 20 | g.49905897G>T | CA408946559 | SPATA2 | c.1285C>A (p.Leu429Met)
| |
| 20 | g.49905898A= | CA2368281343 | SPATA2 | c.1284T= (p.Ser428=)
| |
| 20 | g.49905898A>C | CA511018333 | SPATA2 | c.1284T>G (p.Ser428=)
| |
| 20 | g.49905898A>G | CA511018334 | SPATA2 | c.1284T>C (p.Ser428=)
| |
| 20 | g.49905898A>T | CA511018335 | SPATA2 | c.1284T>A (p.Ser428=)
| dbSNP |
| 20 | g.49905899G>A | CA408946562 | SPATA2 | c.1283C>T (p.Ser428Phe)
| COSMIC |
| 20 | g.49905899G>C | CA408946565 | SPATA2 | c.1283C>G (p.Ser428Cys)
| |
| 20 | g.49905899G>T | CA408946567 | SPATA2 | c.1283C>A (p.Ser428Tyr)
| |
| 20 | g.49905900A>C | CA408946577 | SPATA2 | c.1282T>G (p.Ser428Ala)
| |
| 20 | g.49905900A>G | CA408946573 | SPATA2 | c.1282T>C (p.Ser428Pro)
| |
| 20 | g.49905900A>T | CA408946574 | SPATA2 | c.1282T>A (p.Ser428Thr)
| |
| 20 | g.49905901T>A | CA511018341 | SPATA2 | c.1281A>T (p.Ala427=)
| |
| 20 | g.49905901T>C | CA511018340 | SPATA2 | c.1281A>G (p.Ala427=)
| |
| 20 | g.49905901T>G | CA511018339 | SPATA2 | c.1281A>C (p.Ala427=)
| |
| 20 | g.49905902G>A | CA408946580 | SPATA2 | c.1280C>T (p.Ala427Val)
| dbSNP gnomAD v2 |
| 20 | g.49905902G>C | CA408946581 | SPATA2 | c.1280C>G (p.Ala427Gly)
| |
| 20 | g.49905902G= | CA2368281344 | SPATA2 | c.1280C= (p.Ala427=)
| |
| 20 | g.49905902G>T | CA408946583 | SPATA2 | c.1280C>A (p.Ala427Glu)
| |
| 20 | g.49905903C>A | CA408946589 | SPATA2 | c.1279G>T (p.Ala427Ser)
| gnomAD v4 |
| 20 | g.49905903C= | CA2368281345 | SPATA2 | c.1279G= (p.Ala427=)
| |
| 20 | g.49905903C>G | CA408946590 | SPATA2 | c.1279G>C (p.Ala427Pro)
| |
| 20 | g.49905903C>T | CA408946591 | SPATA2 | c.1279G>A (p.Ala427Thr)
| dbSNP |
| 20 | g.49905906del | CA2653279987 | SPATA2 | c.1279del (p.Ala427HisfsTer?)
| gnomAD v4 |
| 20 | g.49905903_49905908del | CA2653279986 | SPATA2 | c.1274_1279del (p.His425_Ala427delinsPro)
| gnomAD v4 |
| 20 | g.49905904C>A | CA511018345 | SPATA2 | c.1278G>T (p.Gly426=)
| |
| 20 | g.49905904C>G | CA511018346 | SPATA2 | c.1278G>C (p.Gly426=)
| |
| 20 | g.49905904C>T | CA511018347 | SPATA2 | c.1278G>A (p.Gly426=)
| |
| 20 | g.49905905C>A | CA408946595 | SPATA2 | c.1277G>T (p.Gly426Val)
| gnomAD v4 |
| 20 | g.49905905C>G | CA408946596 | SPATA2 | c.1277G>C (p.Gly426Ala)
| |
| 20 | g.49905905C>T | CA408946593 | SPATA2 | c.1277G>A (p.Gly426Glu)
| gnomAD v4 |
| 20 | g.49905906C>A | CA408946598 | SPATA2 | c.1276G>T (p.Gly426Trp)
| |
| 20 | g.49905906C= | CA2368281346 | SPATA2 | c.1276G= (p.Gly426=)
| |
| 20 | g.49905906C>G | CA408946600 | SPATA2 | c.1276G>C (p.Gly426Arg)
| |
| 20 | g.49905906C>T | CA9904863 | SPATA2 | c.1276G>A (p.Gly426Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905907G>A | CA9904864 | SPATA2 | c.1275C>T (p.His425=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905907G>C | CA408946603 | SPATA2 | c.1275C>G (p.His425Gln)
| |
| 20 | g.49905907G= | CA2368281347 | SPATA2 | c.1275C= (p.His425=)
| |
| 20 | g.49905907G>T | CA408946605 | SPATA2 | c.1275C>A (p.His425Gln)
| |
| 20 | g.49905908T>A | CA408946607 | SPATA2 | c.1274A>T (p.His425Leu)
| dbSNP gnomAD v4 |
| 20 | g.49905908T>C | CA408946610 | SPATA2 | c.1274A>G (p.His425Arg)
| dbSNP gnomAD v4 |
| 20 | g.49905908T>G | CA408946611 | SPATA2 | c.1274A>C (p.His425Pro)
| |
| 20 | g.49905908T= | CA2368281348 | SPATA2 | c.1274A= (p.His425=)
| |
| 20 | g.49905909G>A | CA408946613 | SPATA2 | c.1273C>T (p.His425Tyr)
| dbSNP gnomAD v2 |
| 20 | g.49905909G>C | CA408946615 | SPATA2 | c.1273C>G (p.His425Asp)
| |
| 20 | g.49905909G= | CA2368281349 | SPATA2 | c.1273C= (p.His425=)
| |
| 20 | g.49905909G>T | CA408946617 | SPATA2 | c.1273C>A (p.His425Asn)
| |
| 20 | g.49905911del | CA2653279994 | SPATA2 | c.1273del (p.His425ThrfsTer?)
| gnomAD v4 |
| 20 | g.49905910G>A | CA511018350 | SPATA2 | c.1272C>T (p.Ala424=)
| dbSNP gnomAD v2 |
| 20 | g.49905910G>C | CA511018351 | SPATA2 | c.1272C>G (p.Ala424=)
| |
| 20 | g.49905910G= | CA2368281350 | SPATA2 | c.1272C= (p.Ala424=)
| |
| 20 | g.49905910G>T | CA511018352 | SPATA2 | c.1272C>A (p.Ala424=)
| |
| 20 | g.49905911G>A | CA408946621 | SPATA2 | c.1271C>T (p.Ala424Val)
| |
| 20 | g.49905911G>C | CA408946623 | SPATA2 | c.1271C>G (p.Ala424Gly)
| |
| 20 | g.49905911G= | CA2368281351 | SPATA2 | c.1271C= (p.Ala424=)
| |
| 20 | g.49905911G>T | CA9904865 | SPATA2 | c.1271C>A (p.Ala424Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905912C>A | CA408946629 | SPATA2 | c.1270G>T (p.Ala424Ser)
| |
| 20 | g.49905912C= | CA2368281352 | SPATA2 | c.1270G= (p.Ala424=)
| |
| 20 | g.49905912C>G | CA408946626 | SPATA2 | c.1270G>C (p.Ala424Pro)
| dbSNP gnomAD v4 |
| 20 | g.49905912C>T | CA9904866 | SPATA2 | c.1270G>A (p.Ala424Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905913C>A | CA315121960 | SPATA2 | c.1269G>T (p.Leu423=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905913C= | CA2368281353 | SPATA2 | c.1269G= (p.Leu423=)
| |
| 20 | g.49905913C>G | CA511018355 | SPATA2 | c.1269G>C (p.Leu423=)
| |
| 20 | g.49905913C>T | CA511018356 | SPATA2 | c.1269G>A (p.Leu423=)
| |
| 20 | g.49905923_49905988dup | CA2653280001 | SPATA2 | c.1204_1269dup (p.Leu423_Ala424insLeuThrCysProProAlaSerLysProSerAlaPheProSerLysAlaSerThrHisAspSerLeu)
| gnomAD v4 |
| 20 | g.49905914A>C | CA408946631 | SPATA2 | c.1268T>G (p.Leu423Arg)
| gnomAD v4 |
| 20 | g.49905914A>G | CA408946634 | SPATA2 | c.1268T>C (p.Leu423Pro)
| |
| 20 | g.49905914A>T | CA408946637 | SPATA2 | c.1268T>A (p.Leu423Gln)
| |
| 20 | g.49905915G>A | CA511018360 | SPATA2 | c.1267C>T (p.Leu423=)
| gnomAD v4 |
| 20 | g.49905915G>C | CA408946643 | SPATA2 | c.1267C>G (p.Leu423Val)
| |
| 20 | g.49905915G= | CA2368281354 | SPATA2 | c.1267C= (p.Leu423=)
| |
| 20 | g.49905915G>T | CA315121963 | SPATA2 | c.1267C>A (p.Leu423Met)
| dbSNP |
| 20 | g.49905916G>A | CA9904867 | SPATA2 | c.1266C>T (p.Ser422=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905916G>C | CA408946652 | SPATA2 | c.1266C>G (p.Ser422Arg)
| |
| 20 | g.49905916G= | CA2368281355 | SPATA2 | c.1266C= (p.Ser422=)
| |
| 20 | g.49905916G>T | CA408946655 | SPATA2 | c.1266C>A (p.Ser422Arg)
| |
| 20 | g.49905917C>A | CA408946659 | SPATA2 | c.1265G>T (p.Ser422Ile)
| gnomAD v4 |
| 20 | g.49905917C>G | CA408946662 | SPATA2 | c.1265G>C (p.Ser422Thr)
| |
| 20 | g.49905917C>T | CA408946665 | SPATA2 | c.1265G>A (p.Ser422Asn)
| gnomAD v4 |
| 20 | g.49905918T>A | CA408946667 | SPATA2 | c.1264A>T (p.Ser422Cys)
| |
| 20 | g.49905918T>C | CA408946668 | SPATA2 | c.1264A>G (p.Ser422Gly)
| gnomAD v4 |
| 20 | g.49905918T>G | CA408946666 | SPATA2 | c.1264A>C (p.Ser422Arg)
| |
| 20 | g.49905919G>A | CA511018362 | SPATA2 | c.1263C>T (p.Asp421=)
| |
| 20 | g.49905919G>C | CA408946670 | SPATA2 | c.1263C>G (p.Asp421Glu)
| gnomAD v4 |
| 20 | g.49905919G>T | CA408946671 | SPATA2 | c.1263C>A (p.Asp421Glu)
| |
| 20 | g.49905920T>A | CA408946674 | SPATA2 | c.1262A>T (p.Asp421Val)
| |
| 20 | g.49905920T>C | CA408946677 | SPATA2 | c.1262A>G (p.Asp421Gly)
| |
| 20 | g.49905920T>G | CA408946680 | SPATA2 | c.1262A>C (p.Asp421Ala)
| |
| 20 | g.49905921C>A | CA408946681 | SPATA2 | c.1261G>T (p.Asp421Tyr)
| |
| 20 | g.49905921C>G | CA408946682 | SPATA2 | c.1261G>C (p.Asp421His)
| |
| 20 | g.49905921C>T | CA408946683 | SPATA2 | c.1261G>A (p.Asp421Asn)
| |
| 20 | g.49905922A>C | CA408946686 | SPATA2 | c.1260T>G (p.His420Gln)
| |
| 20 | g.49905922A>G | CA511018363 | SPATA2 | c.1260T>C (p.His420=)
| |
| 20 | g.49905922A>T | CA408946688 | SPATA2 | c.1260T>A (p.His420Gln)
| |
| 20 | g.49905923T>A | CA408946691 | SPATA2 | c.1259A>T (p.His420Leu)
| |
| 20 | g.49905923T>C | CA408946694 | SPATA2 | c.1259A>G (p.His420Arg)
| gnomAD v4 |
| 20 | g.49905923T>G | CA408946696 | SPATA2 | c.1259A>C (p.His420Pro)
| |
| 20 | g.49905924G>A | CA315121968 | SPATA2 | c.1258C>T (p.His420Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905924G>C | CA408946702 | SPATA2 | c.1258C>G (p.His420Asp)
| |
| 20 | g.49905924G= | CA2368281356 | SPATA2 | c.1258C= (p.His420=)
| |
| 20 | g.49905924G>T | CA408946698 | SPATA2 | c.1258C>A (p.His420Asn)
| |
| 20 | g.49905925A>C | CA511018364 | SPATA2 | c.1257T>G (p.Thr419=)
| |
| 20 | g.49905925A>G | CA511018365 | SPATA2 | c.1257T>C (p.Thr419=)
| |
| 20 | g.49905925A>T | CA511018366 | SPATA2 | c.1257T>A (p.Thr419=)
| |
| 20 | g.49905926G>A | CA408946705 | SPATA2 | c.1256C>T (p.Thr419Ile)
| |
| 20 | g.49905926G>C | CA408946708 | SPATA2 | c.1256C>G (p.Thr419Ser)
| |
| 20 | g.49905926G>T | CA408946711 | SPATA2 | c.1256C>A (p.Thr419Asn)
| |
| 20 | g.49905927T>A | CA408946714 | SPATA2 | c.1255A>T (p.Thr419Ser)
| |
| 20 | g.49905927T>C | CA408946716 | SPATA2 | c.1255A>G (p.Thr419Ala)
| |
| 20 | g.49905927T>G | CA408946720 | SPATA2 | c.1255A>C (p.Thr419Pro)
| |
| 20 | g.49905928C>A | CA511018367 | SPATA2 | c.1254G>T (p.Ser418=)
| gnomAD v4 |
| 20 | g.49905928C= | CA2368281357 | SPATA2 | c.1254G= (p.Ser418=)
| |
| 20 | g.49905928C>G | CA511018368 | SPATA2 | c.1254G>C (p.Ser418=)
| dbSNP |
| 20 | g.49905928C>T | CA9904868 | SPATA2 | c.1254G>A (p.Ser418=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905929G>A | CA408946728 | SPATA2 | c.1253C>T (p.Ser418Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905929G>C | CA408946730 | SPATA2 | c.1253C>G (p.Ser418Trp)
| |
| 20 | g.49905929G= | CA2368281358 | SPATA2 | c.1253C= (p.Ser418=)
| |
| 20 | g.49905929G>T | CA9904869 | SPATA2 | c.1253C>A (p.Ser418Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905930A>C | CA408946732 | SPATA2 | c.1252T>G (p.Ser418Ala)
| gnomAD v4 |
| 20 | g.49905930A>G | CA408946735 | SPATA2 | c.1252T>C (p.Ser418Pro)
| |
| 20 | g.49905930A>T | CA408946740 | SPATA2 | c.1252T>A (p.Ser418Thr)
| |
| 20 | g.49905931G>A | CA511018369 | SPATA2 | c.1251C>T (p.Ala417=)
| |
| 20 | g.49905931G>C | CA511018370 | SPATA2 | c.1251C>G (p.Ala417=)
| |
| 20 | g.49905931G>T | CA511018371 | SPATA2 | c.1251C>A (p.Ala417=)
| gnomAD v4 |
| 20 | g.49905932G>A | CA408946742 | SPATA2 | c.1250C>T (p.Ala417Val)
| |
| 20 | g.49905932G>C | CA408946747 | SPATA2 | c.1250C>G (p.Ala417Gly)
| |
| 20 | g.49905932G>T | CA408946744 | SPATA2 | c.1250C>A (p.Ala417Asp)
| gnomAD v4 |
| 20 | g.49905933C>A | CA315121976 | SPATA2 | c.1249G>T (p.Ala417Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905933C= | CA2368281359 | SPATA2 | c.1249G= (p.Ala417=)
| |
| 20 | g.49905933C>G | CA408946753 | SPATA2 | c.1249G>C (p.Ala417Pro)
| |
| 20 | g.49905933C>T | CA408946756 | SPATA2 | c.1249G>A (p.Ala417Thr)
| |
| 20 | g.49905934C>A | CA408946759 | SPATA2 | c.1248G>T (p.Lys416Asn)
| gnomAD v4 |
| 20 | g.49905934C>G | CA408946763 | SPATA2 | c.1248G>C (p.Lys416Asn)
| |
| 20 | g.49905934C>T | CA511018372 | SPATA2 | c.1248G>A (p.Lys416=)
| |
| 20 | g.49905935T>A | CA408946766 | SPATA2 | c.1247A>T (p.Lys416Met)
| |
| 20 | g.49905935T>C | CA408946769 | SPATA2 | c.1247A>G (p.Lys416Arg)
| |
| 20 | g.49905935T>G | CA408946772 | SPATA2 | c.1247A>C (p.Lys416Thr)
| |
| 20 | g.49905936T>A | CA408946775 | SPATA2 | c.1246A>T (p.Lys416Ter)
| |
| 20 | g.49905936T>C | CA408946778 | SPATA2 | c.1246A>G (p.Lys416Glu)
| |
| 20 | g.49905936T>G | CA408946780 | SPATA2 | c.1246A>C (p.Lys416Gln)
| |
| 20 | g.49905936_49905948delinsTGCTGGGGAAGGC | CA2368281360 | SPATA2 | c.1234_1246delinsGCCTTCCCCAGCA (p.Ala412=)
| |
| 20 | g.49905937G>A | CA511018373 | SPATA2 | c.1245C>T (p.Ser415=)
| gnomAD v4 |
| 20 | g.49905937G>C | CA408946783 | SPATA2 | c.1245C>G (p.Ser415Arg)
| dbSNP |
| 20 | g.49905937G= | CA2368281362 | SPATA2 | c.1245C= (p.Ser415=)
| |
| 20 | g.49905937G>T | CA408946785 | SPATA2 | c.1245C>A (p.Ser415Arg)
| gnomAD v4 |
| 20 | g.49905943_49905954del | CA2368281361 | SPATA2 | c.1234_1245del (p.Ala412_Ser415del)
| dbSNP |
| 20 | g.49905938C>A | CA408946802 | SPATA2 | c.1244G>T (p.Ser415Ile)
| |
| 20 | g.49905938C>G | CA408946796 | SPATA2 | c.1244G>C (p.Ser415Thr)
| |
| 20 | g.49905938C>T | CA408946793 | SPATA2 | c.1244G>A (p.Ser415Asn)
| gnomAD v4 |
| 20 | g.49905939T>A | CA408946806 | SPATA2 | c.1243A>T (p.Ser415Cys)
| |
| 20 | g.49905939T>C | CA408946809 | SPATA2 | c.1243A>G (p.Ser415Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905939T>G | CA408946815 | SPATA2 | c.1243A>C (p.Ser415Arg)
| |
| 20 | g.49905939T= | CA2368281363 | SPATA2 | c.1243A= (p.Ser415=)
| |
| 20 | g.49905940G>A | CA511018374 | SPATA2 | c.1242C>T (p.Pro414=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905940G>C | CA511018375 | SPATA2 | c.1242C>G (p.Pro414=)
| |
| 20 | g.49905940G= | CA2368281364 | SPATA2 | c.1242C= (p.Pro414=)
| |
| 20 | g.49905940G>T | CA511018376 | SPATA2 | c.1242C>A (p.Pro414=)
| |
| 20 | g.49905941G>A | CA408946819 | SPATA2 | c.1241C>T (p.Pro414Leu)
| |
| 20 | g.49905941G>C | CA315121979 | SPATA2 | c.1241C>G (p.Pro414Arg)
| dbSNP |
| 20 | g.49905941G= | CA2368281365 | SPATA2 | c.1241C= (p.Pro414=)
| |
| 20 | g.49905941G>T | CA408946823 | SPATA2 | c.1241C>A (p.Pro414His)
| |
| 20 | g.49905942G>A | CA9904870 | SPATA2 | c.1240C>T (p.Pro414Ser)
| dbSNP ExAC gnomAD v2 COSMIC |
| 20 | g.49905942G>C | CA408946837 | SPATA2 | c.1240C>G (p.Pro414Ala)
| |
| 20 | g.49905942G= | CA2368281366 | SPATA2 | c.1240C= (p.Pro414=)
| |
| 20 | g.49905942G>T | CA408946840 | SPATA2 | c.1240C>A (p.Pro414Thr)
| |
| 20 | g.49905943G>A | CA511018377 | SPATA2 | c.1239C>T (p.Phe413=)
| |
| 20 | g.49905943G>C | CA408946841 | SPATA2 | c.1239C>G (p.Phe413Leu)
| |
| 20 | g.49905943G>T | CA408946843 | SPATA2 | c.1239C>A (p.Phe413Leu)
| gnomAD v4 |
| 20 | g.49905944A= | CA2368281367 | SPATA2 | c.1238T= (p.Phe413=)
| |
| 20 | g.49905944A>C | CA408946849 | SPATA2 | c.1238T>G (p.Phe413Cys)
| |
| 20 | g.49905944A>G | CA408946851 | SPATA2 | c.1238T>C (p.Phe413Ser)
| dbSNP gnomAD v2 |
| 20 | g.49905944A>T | CA408946854 | SPATA2 | c.1238T>A (p.Phe413Tyr)
| |
| 20 | g.49905945A>C | CA408946865 | SPATA2 | c.1237T>G (p.Phe413Val)
| |
| 20 | g.49905945A>G | CA408946863 | SPATA2 | c.1237T>C (p.Phe413Leu)
| gnomAD v4 |
| 20 | g.49905945A>T | CA408946860 | SPATA2 | c.1237T>A (p.Phe413Ile)
| |
| 20 | g.49905946G>A | CA511018378 | SPATA2 | c.1236C>T (p.Ala412=)
| dbSNP |
| 20 | g.49905946G>C | CA511018379 | SPATA2 | c.1236C>G (p.Ala412=)
| |
| 20 | g.49905946G= | CA2368281368 | SPATA2 | c.1236C= (p.Ala412=)
| |
| 20 | g.49905946G>T | CA511018380 | SPATA2 | c.1236C>A (p.Ala412=)
| gnomAD v4 |
| 20 | g.49905947G>A | CA408946869 | SPATA2 | c.1235C>T (p.Ala412Val)
| dbSNP gnomAD v2 |
| 20 | g.49905947G>C | CA408946872 | SPATA2 | c.1235C>G (p.Ala412Gly)
| |
| 20 | g.49905947G= | CA2368281369 | SPATA2 | c.1235C= (p.Ala412=)
| |
| 20 | g.49905947G>T | CA408946875 | SPATA2 | c.1235C>A (p.Ala412Asp)
| gnomAD v4 |
| 20 | g.49905948C>A | CA408946879 | SPATA2 | c.1234G>T (p.Ala412Ser)
| |
| 20 | g.49905948C= | CA2368281370 | SPATA2 | c.1234G= (p.Ala412=)
| |
| 20 | g.49905948C>G | CA408946883 | SPATA2 | c.1234G>C (p.Ala412Pro)
| |
| 20 | g.49905948C>T | CA9904871 | SPATA2 | c.1234G>A (p.Ala412Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905949G>A | CA511018381 | SPATA2 | c.1233C>T (p.Ser411=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905949G>C | CA408946890 | SPATA2 | c.1233C>G (p.Ser411Arg)
| |
| 20 | g.49905949G= | CA2368281371 | SPATA2 | c.1233C= (p.Ser411=)
| |
| 20 | g.49905949G>T | CA408946886 | SPATA2 | c.1233C>A (p.Ser411Arg)
| gnomAD v4 |
| 20 | g.49905950C>A | CA408946893 | SPATA2 | c.1232G>T (p.Ser411Ile)
| |
| 20 | g.49905950C= | CA2368281372 | SPATA2 | c.1232G= (p.Ser411=)
| |
| 20 | g.49905950C>G | CA9904872 | SPATA2 | c.1232G>C (p.Ser411Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905950C>T | CA408946897 | SPATA2 | c.1232G>A (p.Ser411Asn)
| |
| 20 | g.49905951T>A | CA315122005 | SPATA2 | c.1231A>T (p.Ser411Cys)
| dbSNP |
| 20 | g.49905951T>C | CA408946903 | SPATA2 | c.1231A>G (p.Ser411Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905951T>G | CA408946906 | SPATA2 | c.1231A>C (p.Ser411Arg)
| |
| 20 | g.49905951T= | CA2368281373 | SPATA2 | c.1231A= (p.Ser411=)
| |
| 20 | g.49905952G>A | CA511018382 | SPATA2 | c.1230C>T (p.Pro410=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905952G>C | CA511018383 | SPATA2 | c.1230C>G (p.Pro410=)
| |
| 20 | g.49905952G= | CA2368281374 | SPATA2 | c.1230C= (p.Pro410=)
| |
| 20 | g.49905952G>T | CA511018384 | SPATA2 | c.1230C>A (p.Pro410=)
| gnomAD v4 |
| 20 | g.49905954del | CA2653280036 | SPATA2 | c.1230del (p.Ser411AlafsTer?)
| gnomAD v4 |
| 20 | g.49905953G>A | CA408946910 | SPATA2 | c.1229C>T (p.Pro410Leu)
| gnomAD v4 COSMIC |
| 20 | g.49905953G>C | CA408946907 | SPATA2 | c.1229C>G (p.Pro410Arg)
| |
| 20 | g.49905953G>T | CA408946908 | SPATA2 | c.1229C>A (p.Pro410His)
| |
| 20 | g.49905954G>A | CA408946914 | SPATA2 | c.1228C>T (p.Pro410Ser)
| gnomAD v4 |
| 20 | g.49905954G>C | CA408946920 | SPATA2 | c.1228C>G (p.Pro410Ala)
| |
| 20 | g.49905954G>T | CA408946923 | SPATA2 | c.1228C>A (p.Pro410Thr)
| gnomAD v4 |
| 20 | g.49905955C>A | CA408946926 | SPATA2 | c.1227G>T (p.Lys409Asn)
| gnomAD v4 |
| 20 | g.49905955C>G | CA408946927 | SPATA2 | c.1227G>C (p.Lys409Asn)
| |
| 20 | g.49905955C>T | CA511018057 | SPATA2 | c.1227G>A (p.Lys409=)
| |
| 20 | g.49905956T>A | CA408946928 | SPATA2 | c.1226A>T (p.Lys409Met)
| |
| 20 | g.49905956T>C | CA408946930 | SPATA2 | c.1226A>G (p.Lys409Arg)
| |
| 20 | g.49905956T>G | CA408946933 | SPATA2 | c.1226A>C (p.Lys409Thr)
| |
| 20 | g.49905957T>A | CA408946936 | SPATA2 | c.1225A>T (p.Lys409Ter)
| |
| 20 | g.49905957T>C | CA408946940 | SPATA2 | c.1225A>G (p.Lys409Glu)
| |
| 20 | g.49905957T>G | CA408946941 | SPATA2 | c.1225A>C (p.Lys409Gln)
| |
| 20 | g.49905958G>A | CA511018058 | SPATA2 | c.1224C>T (p.Ser408=)
| gnomAD v4 |
| 20 | g.49905958G>C | CA9904873 | SPATA2 | c.1224C>G (p.Ser408=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905958G= | CA2368281375 | SPATA2 | c.1224C= (p.Ser408=)
| |
| 20 | g.49905958G>T | CA511018059 | SPATA2 | c.1224C>A (p.Ser408=)
| |
| 20 | g.49905959G>A | CA408946943 | SPATA2 | c.1223C>T (p.Ser408Phe)
| |
| 20 | g.49905959G>C | CA408946950 | SPATA2 | c.1223C>G (p.Ser408Cys)
| dbSNP |
| 20 | g.49905959G= | CA2368281376 | SPATA2 | c.1223C= (p.Ser408=)
| |
| 20 | g.49905959G>T | CA408946946 | SPATA2 | c.1223C>A (p.Ser408Tyr)
| gnomAD v4 |
| 20 | g.49905960A>C | CA408946952 | SPATA2 | c.1222T>G (p.Ser408Ala)
| |
| 20 | g.49905960A>G | CA408946971 | SPATA2 | c.1222T>C (p.Ser408Pro)
| |
| 20 | g.49905960A>T | CA408946966 | SPATA2 | c.1222T>A (p.Ser408Thr)
| |
| 20 | g.49905961A>C | CA511018060 | SPATA2 | c.1221T>G (p.Ala407=)
| gnomAD v4 |
| 20 | g.49905961A>G | CA511018061 | SPATA2 | c.1221T>C (p.Ala407=)
| |
| 20 | g.49905961A>T | CA511018062 | SPATA2 | c.1221T>A (p.Ala407=)
| |
| 20 | g.49905962G>A | CA408946976 | SPATA2 | c.1220C>T (p.Ala407Val)
| |
| 20 | g.49905962G>C | CA408946981 | SPATA2 | c.1220C>G (p.Ala407Gly)
| |
| 20 | g.49905962G>T | CA408946984 | SPATA2 | c.1220C>A (p.Ala407Asp)
| gnomAD v4 |
