| 20 | g.49905708A>C | CA408945427 | SPATA2 | c.1474T>G (p.Cys492Gly)
| |
| 20 | g.49905708A>G | CA408945431 | SPATA2 | c.1474T>C (p.Cys492Arg)
| |
| 20 | g.49905708A>T | CA408945429 | SPATA2 | c.1474T>A (p.Cys492Ser)
| |
| 20 | g.49905709G>A | CA511018089 | SPATA2 | c.1473C>T (p.Pro491=)
| gnomAD v4 |
| 20 | g.49905709G>C | CA511018090 | SPATA2 | c.1473C>G (p.Pro491=)
| |
| 20 | g.49905709G>T | CA511018091 | SPATA2 | c.1473C>A (p.Pro491=)
| |
| 20 | g.49905710G>A | CA315121766 | SPATA2 | c.1472C>T (p.Pro491Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905710G>C | CA408945434 | SPATA2 | c.1472C>G (p.Pro491Arg)
| |
| 20 | g.49905710G= | CA2368281261 | SPATA2 | c.1472C= (p.Pro491=)
| |
| 20 | g.49905710G>T | CA408945435 | SPATA2 | c.1472C>A (p.Pro491His)
| |
| 20 | g.49905711G>A | CA408945438 | SPATA2 | c.1471C>T (p.Pro491Ser)
| |
| 20 | g.49905711G>C | CA408945439 | SPATA2 | c.1471C>G (p.Pro491Ala)
| ClinVar |
| 20 | g.49905711G>T | CA408945441 | SPATA2 | c.1471C>A (p.Pro491Thr)
| |
| 20 | g.49905712G>A | CA511018095 | SPATA2 | c.1470C>T (p.Asp490=)
| |
| 20 | g.49905712G>C | CA408945444 | SPATA2 | c.1470C>G (p.Asp490Glu)
| |
| 20 | g.49905712G>T | CA408945446 | SPATA2 | c.1470C>A (p.Asp490Glu)
| |
| 20 | g.49905713T>A | CA408945448 | SPATA2 | c.1469A>T (p.Asp490Val)
| |
| 20 | g.49905713T>C | CA408945449 | SPATA2 | c.1469A>G (p.Asp490Gly)
| |
| 20 | g.49905713T>G | CA408945451 | SPATA2 | c.1469A>C (p.Asp490Ala)
| |
| 20 | g.49905714C>A | CA408945454 | SPATA2 | c.1468G>T (p.Asp490Tyr)
| |
| 20 | g.49905714C>G | CA408945455 | SPATA2 | c.1468G>C (p.Asp490His)
| |
| 20 | g.49905714C>T | CA408945453 | SPATA2 | c.1468G>A (p.Asp490Asn)
| COSMIC |
| 20 | g.49905715A>C | CA408945457 | SPATA2 | c.1467T>G (p.Tyr489Ter)
| |
| 20 | g.49905715A>G | CA511018099 | SPATA2 | c.1467T>C (p.Tyr489=)
| |
| 20 | g.49905715A>T | CA408945458 | SPATA2 | c.1467T>A (p.Tyr489Ter)
| |
| 20 | g.49905715_49905716delinsAT | CA2368281262 | SPATA2 | c.1466_1467delinsAT (p.Tyr489=)
| |
| 20 | g.49905716del | CA2368281263 | SPATA2 | c.1466del (p.Tyr489LeufsTer19)
| dbSNP |
| 20 | g.49905716T>A | CA408945459 | SPATA2 | c.1466A>T (p.Tyr489Phe)
| |
| 20 | g.49905716T>C | CA408945460 | SPATA2 | c.1466A>G (p.Tyr489Cys)
| COSMIC |
| 20 | g.49905716T>G | CA408945461 | SPATA2 | c.1466A>C (p.Tyr489Ser)
| |
| 20 | g.49905717A= | CA2368281264 | SPATA2 | c.1465T= (p.Tyr489=)
| |
| 20 | g.49905717A>C | CA408945462 | SPATA2 | c.1465T>G (p.Tyr489Asp)
| |
| 20 | g.49905717A>G | CA408945464 | SPATA2 | c.1465T>C (p.Tyr489His)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905717A>T | CA408945465 | SPATA2 | c.1465T>A (p.Tyr489Asn)
| |
| 20 | g.49905718A>C | CA408945468 | SPATA2 | c.1464T>G (p.His488Gln)
| |
| 20 | g.49905718A>G | CA511018103 | SPATA2 | c.1464T>C (p.His488=)
| |
| 20 | g.49905718A>T | CA408945470 | SPATA2 | c.1464T>A (p.His488Gln)
| |
| 20 | g.49905719T>A | CA408945472 | SPATA2 | c.1463A>T (p.His488Leu)
| |
| 20 | g.49905719T>C | CA408945476 | SPATA2 | c.1463A>G (p.His488Arg)
| |
| 20 | g.49905719T>G | CA408945478 | SPATA2 | c.1463A>C (p.His488Pro)
| |
| 20 | g.49905720G>A | CA408945479 | SPATA2 | c.1462C>T (p.His488Tyr)
| |
| 20 | g.49905720G>C | CA408945481 | SPATA2 | c.1462C>G (p.His488Asp)
| |
| 20 | g.49905720G>T | CA408945484 | SPATA2 | c.1462C>A (p.His488Asn)
| |
| 20 | g.49905721G>A | CA511018105 | SPATA2 | c.1461C>T (p.Tyr487=)
| dbSNP gnomAD v2 |
| 20 | g.49905721G>C | CA408945486 | SPATA2 | c.1461C>G (p.Tyr487Ter)
| |
| 20 | g.49905721G= | CA2368281265 | SPATA2 | c.1461C= (p.Tyr487=)
| |
| 20 | g.49905721G>T | CA408945487 | SPATA2 | c.1461C>A (p.Tyr487Ter)
| |
| 20 | g.49905722T>A | CA408945490 | SPATA2 | c.1460A>T (p.Tyr487Phe)
| |
| 20 | g.49905722T>C | CA408945492 | SPATA2 | c.1460A>G (p.Tyr487Cys)
| |
| 20 | g.49905722T>G | CA408945494 | SPATA2 | c.1460A>C (p.Tyr487Ser)
| gnomAD v4 |
| 20 | g.49905723A>C | CA408945499 | SPATA2 | c.1459T>G (p.Tyr487Asp)
| |
| 20 | g.49905723A>G | CA408945501 | SPATA2 | c.1459T>C (p.Tyr487His)
| |
| 20 | g.49905723A>T | CA408945504 | SPATA2 | c.1459T>A (p.Tyr487Asn)
| |
| 20 | g.49905723_49905724dup | CA2516852141 | SPATA2 | c.1458_1459dup (p.Tyr487PhefsTer22)
| |
| 20 | g.49905724A>C | CA511018109 | SPATA2 | c.1458T>G (p.Ala486=)
| |
| 20 | g.49905724A>G | CA511018108 | SPATA2 | c.1458T>C (p.Ala486=)
| |
| 20 | g.49905724A>T | CA511018107 | SPATA2 | c.1458T>A (p.Ala486=)
| |
| 20 | g.49905725G>A | CA408945510 | SPATA2 | c.1457C>T (p.Ala486Val)
| |
| 20 | g.49905725G>C | CA408945513 | SPATA2 | c.1457C>G (p.Ala486Gly)
| |
| 20 | g.49905725G>T | CA408945515 | SPATA2 | c.1457C>A (p.Ala486Asp)
| |
| 20 | g.49905726C>A | CA9904819 | SPATA2 | c.1456G>T (p.Ala486Ser)
| dbSNP ExAC gnomAD v4 |
| 20 | g.49905726C= | CA2368281266 | SPATA2 | c.1456G= (p.Ala486=)
| |
| 20 | g.49905726C>G | CA408945519 | SPATA2 | c.1456G>C (p.Ala486Pro)
| |
| 20 | g.49905726C>T | CA9904818 | SPATA2 | c.1456G>A (p.Ala486Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G>A | CA9904820 | SPATA2 | c.1455C>T (p.Ser485=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G>C | CA9904821 | SPATA2 | c.1455C>G (p.Ser485Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905727G= | CA2368281267 | SPATA2 | c.1455C= (p.Ser485=)
| |
| 20 | g.49905727G>T | CA408945524 | SPATA2 | c.1455C>A (p.Ser485Arg)
| |
| 20 | g.49905728C>A | CA408945529 | SPATA2 | c.1454G>T (p.Ser485Ile)
| |
| 20 | g.49905728C= | CA2368281268 | SPATA2 | c.1454G= (p.Ser485=)
| |
| 20 | g.49905728C>G | CA9904822 | SPATA2 | c.1454G>C (p.Ser485Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905728C>T | CA408945533 | SPATA2 | c.1454G>A (p.Ser485Asn)
| |
| 20 | g.49905729T>A | CA408945536 | SPATA2 | c.1453A>T (p.Ser485Cys)
| |
| 20 | g.49905729T>C | CA408945538 | SPATA2 | c.1453A>G (p.Ser485Gly)
| |
| 20 | g.49905729T>G | CA9904823 | SPATA2 | c.1453A>C (p.Ser485Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905729T= | CA2368281269 | SPATA2 | c.1453A= (p.Ser485=)
| |
| 20 | g.49905730G>A | CA511018117 | SPATA2 | c.1452C>T (p.Leu484=)
| |
| 20 | g.49905730G>C | CA511018118 | SPATA2 | c.1452C>G (p.Leu484=)
| |
| 20 | g.49905730G>T | CA511018119 | SPATA2 | c.1452C>A (p.Leu484=)
| |
| 20 | g.49905731A>C | CA408945540 | SPATA2 | c.1451T>G (p.Leu484Arg)
| |
| 20 | g.49905731A>G | CA408945542 | SPATA2 | c.1451T>C (p.Leu484Pro)
| gnomAD v4 |
| 20 | g.49905731A>T | CA408945546 | SPATA2 | c.1451T>A (p.Leu484His)
| |
| 20 | g.49905732G>A | CA315121789 | SPATA2 | c.1450C>T (p.Leu484Phe)
| dbSNP gnomAD v4 |
| 20 | g.49905732G>C | CA408945549 | SPATA2 | c.1450C>G (p.Leu484Val)
| |
| 20 | g.49905732G= | CA2368281270 | SPATA2 | c.1450C= (p.Leu484=)
| |
| 20 | g.49905732G>T | CA408945551 | SPATA2 | c.1450C>A (p.Leu484Ile)
| |
| 20 | g.49905733G>A | CA511018123 | SPATA2 | c.1449C>T (p.Cys483=)
| dbSNP |
| 20 | g.49905733G>C | CA408945557 | SPATA2 | c.1449C>G (p.Cys483Trp)
| |
| 20 | g.49905733G= | CA2368281271 | SPATA2 | c.1449C= (p.Cys483=)
| |
| 20 | g.49905733G>T | CA408945555 | SPATA2 | c.1449C>A (p.Cys483Ter)
| |
| 20 | g.49905734C>A | CA408945559 | SPATA2 | c.1448G>T (p.Cys483Phe)
| dbSNP |
| 20 | g.49905734C>G | CA408945563 | SPATA2 | c.1448G>C (p.Cys483Ser)
| |
| 20 | g.49905734C>T | CA408945564 | SPATA2 | c.1448G>A (p.Cys483Tyr)
| gnomAD v4 |
| 20 | g.49905735A>C | CA408945565 | SPATA2 | c.1447T>G (p.Cys483Gly)
| |
| 20 | g.49905735A>G | CA408945566 | SPATA2 | c.1447T>C (p.Cys483Arg)
| gnomAD v4 |
| 20 | g.49905735A>T | CA408945568 | SPATA2 | c.1447T>A (p.Cys483Ser)
| |
| 20 | g.49905736G>A | CA511018124 | SPATA2 | c.1446C>T (p.Ala482=)
| gnomAD v4 |
| 20 | g.49905736G>C | CA511018125 | SPATA2 | c.1446C>G (p.Ala482=)
| |
| 20 | g.49905736G>T | CA511018126 | SPATA2 | c.1446C>A (p.Ala482=)
| |
| 20 | g.49905737G>A | CA408945570 | SPATA2 | c.1445C>T (p.Ala482Val)
| |
| 20 | g.49905737G>C | CA408945576 | SPATA2 | c.1445C>G (p.Ala482Gly)
| |
| 20 | g.49905737G>T | CA408945578 | SPATA2 | c.1445C>A (p.Ala482Asp)
| |
| 20 | g.49905738C>A | CA408945582 | SPATA2 | c.1444G>T (p.Ala482Ser)
| gnomAD v4 |
| 20 | g.49905738C= | CA2368281272 | SPATA2 | c.1444G= (p.Ala482=)
| |
| 20 | g.49905738C>G | CA408945587 | SPATA2 | c.1444G>C (p.Ala482Pro)
| gnomAD v4 |
| 20 | g.49905738C>T | CA408945589 | SPATA2 | c.1444G>A (p.Ala482Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905739G>A | CA9904824 | SPATA2 | c.1443C>T (p.Asp481=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905739G>C | CA408945602 | SPATA2 | c.1443C>G (p.Asp481Glu)
| |
| 20 | g.49905739G= | CA2368281273 | SPATA2 | c.1443C= (p.Asp481=)
| |
| 20 | g.49905739G>T | CA408945591 | SPATA2 | c.1443C>A (p.Asp481Glu)
| |
| 20 | g.49905740T>A | CA408945609 | SPATA2 | c.1442A>T (p.Asp481Val)
| |
| 20 | g.49905740T>C | CA408945605 | SPATA2 | c.1442A>G (p.Asp481Gly)
| |
| 20 | g.49905740T>G | CA408945607 | SPATA2 | c.1442A>C (p.Asp481Ala)
| |
| 20 | g.49905741C>A | CA408945611 | SPATA2 | c.1441G>T (p.Asp481Tyr)
| |
| 20 | g.49905741C>G | CA408945614 | SPATA2 | c.1441G>C (p.Asp481His)
| |
| 20 | g.49905741C>T | CA408945617 | SPATA2 | c.1441G>A (p.Asp481Asn)
| gnomAD v4 |
| 20 | g.49905742A>C | CA408945620 | SPATA2 | c.1440T>G (p.Cys480Trp)
| |
| 20 | g.49905742A>G | CA511018128 | SPATA2 | c.1440T>C (p.Cys480=)
| gnomAD v4 |
| 20 | g.49905742A>T | CA408945622 | SPATA2 | c.1440T>A (p.Cys480Ter)
| |
| 20 | g.49905743C>A | CA408945627 | SPATA2 | c.1439G>T (p.Cys480Phe)
| |
| 20 | g.49905743C>G | CA408945628 | SPATA2 | c.1439G>C (p.Cys480Ser)
| |
| 20 | g.49905743C>T | CA408945629 | SPATA2 | c.1439G>A (p.Cys480Tyr)
| |
| 20 | g.49905743_49905745delinsCAT | CA2368281274 | SPATA2 | c.1437_1439delinsATG (p.Ser479=)
| |
| 20 | g.49905744A= | CA2368281275 | SPATA2 | c.1438T= (p.Cys480=)
| |
| 20 | g.49905744A>C | CA408945631 | SPATA2 | c.1438T>G (p.Cys480Gly)
| |
| 20 | g.49905744A>G | CA408945637 | SPATA2 | c.1438T>C (p.Cys480Arg)
| dbSNP |
| 20 | g.49905744A>T | CA408945640 | SPATA2 | c.1438T>A (p.Cys480Ser)
| gnomAD v4 |
| 20 | g.49905744_49905745del | CA635954360 | SPATA2 | c.1437_1438del (p.Cys480Ter)
| dbSNP gnomAD v2 |
| 20 | g.49905745T>A | CA511018132 | SPATA2 | c.1437A>T (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905745T>C | CA511018131 | SPATA2 | c.1437A>G (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905745T>G | CA511018130 | SPATA2 | c.1437A>C (p.Ser479=)
| gnomAD v4 |
| 20 | g.49905746G>A | CA315121794 | SPATA2 | c.1436C>T (p.Ser479Leu)
| dbSNP |
| 20 | g.49905746G>C | CA408945649 | SPATA2 | c.1436C>G (p.Ser479Ter)
| |
| 20 | g.49905746G= | CA2368281276 | SPATA2 | c.1436C= (p.Ser479=)
| |
| 20 | g.49905746G>T | CA408945644 | SPATA2 | c.1436C>A (p.Ser479Ter)
| |
| 20 | g.49905747A= | CA2368281277 | SPATA2 | c.1435T= (p.Ser479=)
| |
| 20 | g.49905747A>C | CA408945652 | SPATA2 | c.1435T>G (p.Ser479Ala)
| |
| 20 | g.49905747A>G | CA408945654 | SPATA2 | c.1435T>C (p.Ser479Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905747A>T | CA408945656 | SPATA2 | c.1435T>A (p.Ser479Thr)
| |
| 20 | g.49905748G>A | CA511018136 | SPATA2 | c.1434C>T (p.Val478=)
| gnomAD v4 |
| 20 | g.49905748G>C | CA511018135 | SPATA2 | c.1434C>G (p.Val478=)
| |
| 20 | g.49905748G>T | CA511018134 | SPATA2 | c.1434C>A (p.Val478=)
| |
| 20 | g.49905749A>C | CA408945663 | SPATA2 | c.1433T>G (p.Val478Gly)
| |
| 20 | g.49905749A>G | CA408945664 | SPATA2 | c.1433T>C (p.Val478Ala)
| |
| 20 | g.49905749A>T | CA408945666 | SPATA2 | c.1433T>A (p.Val478Asp)
| |
| 20 | g.49905750del | CA2653279968 | SPATA2 | c.1432del (p.Val478SerfsTer30)
| gnomAD v4 |
| 20 | g.49905750C>A | CA408945668 | SPATA2 | c.1432G>T (p.Val478Phe)
| |
| 20 | g.49905750C= | CA2368281278 | SPATA2 | c.1432G= (p.Val478=)
| |
| 20 | g.49905750C>G | CA408945671 | SPATA2 | c.1432G>C (p.Val478Leu)
| |
| 20 | g.49905750C>T | CA408945673 | SPATA2 | c.1432G>A (p.Val478Ile)
| dbSNP |
| 20 | g.49905751T>A | CA408945676 | SPATA2 | c.1431A>T (p.Lys477Asn)
| |
| 20 | g.49905751T>C | CA511018140 | SPATA2 | c.1431A>G (p.Lys477=)
| |
| 20 | g.49905751T>G | CA408945678 | SPATA2 | c.1431A>C (p.Lys477Asn)
| |
| 20 | g.49905752T>A | CA408945682 | SPATA2 | c.1430A>T (p.Lys477Ile)
| |
| 20 | g.49905752T>C | CA408945685 | SPATA2 | c.1430A>G (p.Lys477Arg)
| |
| 20 | g.49905752T>G | CA408945680 | SPATA2 | c.1430A>C (p.Lys477Thr)
| |
| 20 | g.49905753T>A | CA408945687 | SPATA2 | c.1429A>T (p.Lys477Ter)
| |
| 20 | g.49905753T>C | CA408945688 | SPATA2 | c.1429A>G (p.Lys477Glu)
| gnomAD v4 |
| 20 | g.49905753T>G | CA408945689 | SPATA2 | c.1429A>C (p.Lys477Gln)
| |
| 20 | g.49905754T>A | CA511018143 | SPATA2 | c.1428A>T (p.Ser476=)
| |
| 20 | g.49905754T>C | CA511018144 | SPATA2 | c.1428A>G (p.Ser476=)
| |
| 20 | g.49905754T>G | CA511018145 | SPATA2 | c.1428A>C (p.Ser476=)
| gnomAD v4 |
| 20 | g.49905755G>A | CA408945690 | SPATA2 | c.1427C>T (p.Ser476Leu)
| |
| 20 | g.49905755G>C | CA408945691 | SPATA2 | c.1427C>G (p.Ser476Ter)
| |
| 20 | g.49905755G>T | CA408945692 | SPATA2 | c.1427C>A (p.Ser476Ter)
| |
| 20 | g.49905756A>C | CA408945696 | SPATA2 | c.1426T>G (p.Ser476Ala)
| |
| 20 | g.49905756A>G | CA408945693 | SPATA2 | c.1426T>C (p.Ser476Pro)
| |
| 20 | g.49905756A>T | CA408945694 | SPATA2 | c.1426T>A (p.Ser476Thr)
| |
| 20 | g.49905757A>C | CA408945697 | SPATA2 | c.1425T>G (p.Cys475Trp)
| |
| 20 | g.49905757A>G | CA511018149 | SPATA2 | c.1425T>C (p.Cys475=)
| |
| 20 | g.49905757A>T | CA408945698 | SPATA2 | c.1425T>A (p.Cys475Ter)
| |
| 20 | g.49905758C>A | CA408945699 | SPATA2 | c.1424G>T (p.Cys475Phe)
| |
| 20 | g.49905758C>G | CA408945700 | SPATA2 | c.1424G>C (p.Cys475Ser)
| |
| 20 | g.49905758C>T | CA408945701 | SPATA2 | c.1424G>A (p.Cys475Tyr)
| |
| 20 | g.49905759A>C | CA408945703 | SPATA2 | c.1423T>G (p.Cys475Gly)
| |
| 20 | g.49905759A>G | CA408945706 | SPATA2 | c.1423T>C (p.Cys475Arg)
| |
| 20 | g.49905759A>T | CA408945705 | SPATA2 | c.1423T>A (p.Cys475Ser)
| |
| 20 | g.49905760C>A | CA408945708 | SPATA2 | c.1422G>T (p.Gln474His)
| |
| 20 | g.49905760C>G | CA408945710 | SPATA2 | c.1422G>C (p.Gln474His)
| |
| 20 | g.49905760C>T | CA511018150 | SPATA2 | c.1422G>A (p.Gln474=)
| gnomAD v4 |
| 20 | g.49905761T>A | CA408945712 | SPATA2 | c.1421A>T (p.Gln474Leu)
| |
| 20 | g.49905761T>C | CA408945714 | SPATA2 | c.1421A>G (p.Gln474Arg)
| |
| 20 | g.49905761T>G | CA408945716 | SPATA2 | c.1421A>C (p.Gln474Pro)
| |
| 20 | g.49905762G>A | CA408945720 | SPATA2 | c.1420C>T (p.Gln474Ter)
| gnomAD v4 |
| 20 | g.49905762G>C | CA408945722 | SPATA2 | c.1420C>G (p.Gln474Glu)
| |
| 20 | g.49905762G>T | CA408945725 | SPATA2 | c.1420C>A (p.Gln474Lys)
| |
| 20 | g.49905763G>A | CA9904825 | SPATA2 | c.1419C>T (p.Thr473=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905763G>C | CA511018152 | SPATA2 | c.1419C>G (p.Thr473=)
| |
| 20 | g.49905763G= | CA2368281279 | SPATA2 | c.1419C= (p.Thr473=)
| |
| 20 | g.49905763G>T | CA511018153 | SPATA2 | c.1419C>A (p.Thr473=)
| dbSNP gnomAD v4 |
| 20 | g.49905764G>A | CA408945728 | SPATA2 | c.1418C>T (p.Thr473Ile)
| |
| 20 | g.49905764G>C | CA408945729 | SPATA2 | c.1418C>G (p.Thr473Ser)
| |
| 20 | g.49905764G>T | CA408945730 | SPATA2 | c.1418C>A (p.Thr473Asn)
| |
| 20 | g.49905765T>A | CA408945737 | SPATA2 | c.1417A>T (p.Thr473Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905765T>C | CA408945735 | SPATA2 | c.1417A>G (p.Thr473Ala)
| gnomAD v4 |
| 20 | g.49905765T>G | CA408945733 | SPATA2 | c.1417A>C (p.Thr473Pro)
| |
| 20 | g.49905765T= | CA2368281280 | SPATA2 | c.1417A= (p.Thr473=)
| |
| 20 | g.49905766G>A | CA511018154 | SPATA2 | c.1416C>T (p.Cys472=)
| |
| 20 | g.49905766G>C | CA408945740 | SPATA2 | c.1416C>G (p.Cys472Trp)
| |
| 20 | g.49905766G>T | CA408945742 | SPATA2 | c.1416C>A (p.Cys472Ter)
| |
| 20 | g.49905767C>A | CA408945745 | SPATA2 | c.1415G>T (p.Cys472Phe)
| |
| 20 | g.49905767C>G | CA408945749 | SPATA2 | c.1415G>C (p.Cys472Ser)
| dbSNP |
| 20 | g.49905767C>T | CA408945747 | SPATA2 | c.1415G>A (p.Cys472Tyr)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905768A= | CA2368281281 | SPATA2 | c.1414T= (p.Cys472=)
| |
| 20 | g.49905768A>C | CA408945752 | SPATA2 | c.1414T>G (p.Cys472Gly)
| |
| 20 | g.49905768A>G | CA408945757 | SPATA2 | c.1414T>C (p.Cys472Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905768A>T | CA408945754 | SPATA2 | c.1414T>A (p.Cys472Ser)
| |
| 20 | g.49905769G>A | CA511018158 | SPATA2 | c.1413C>T (p.Thr471=)
| |
| 20 | g.49905769G>C | CA511018159 | SPATA2 | c.1413C>G (p.Thr471=)
| |
| 20 | g.49905769G>T | CA511018160 | SPATA2 | c.1413C>A (p.Thr471=)
| |
| 20 | g.49905770G>A | CA408945760 | SPATA2 | c.1412C>T (p.Thr471Ile)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905770G>C | CA408945761 | SPATA2 | c.1412C>G (p.Thr471Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905770G= | CA2368281282 | SPATA2 | c.1412C= (p.Thr471=)
| |
| 20 | g.49905770G>T | CA408945765 | SPATA2 | c.1412C>A (p.Thr471Asn)
| |
| 20 | g.49905771T>A | CA408945767 | SPATA2 | c.1411A>T (p.Thr471Ser)
| |
| 20 | g.49905771T>C | CA408945768 | SPATA2 | c.1411A>G (p.Thr471Ala)
| gnomAD v4 |
| 20 | g.49905771T>G | CA408945769 | SPATA2 | c.1411A>C (p.Thr471Pro)
| |
| 20 | g.49905772G>A | CA511018164 | SPATA2 | c.1410C>T (p.Asn470=)
| |
| 20 | g.49905772G>C | CA408945770 | SPATA2 | c.1410C>G (p.Asn470Lys)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905772G>T | CA408945773 | SPATA2 | c.1410C>A (p.Asn470Lys)
| |
| 20 | g.49905773T>A | CA408945776 | SPATA2 | c.1409A>T (p.Asn470Ile)
| |
| 20 | g.49905773T>C | CA408945777 | SPATA2 | c.1409A>G (p.Asn470Ser)
| gnomAD v4 |
| 20 | g.49905773T>G | CA408945779 | SPATA2 | c.1409A>C (p.Asn470Thr)
| |
| 20 | g.49905773_49905776delinsTTGG | CA2368281283 | SPATA2 | c.1406_1409delinsCCAA (p.Thr469=)
| |
| 20 | g.49905774T>A | CA408945795 | SPATA2 | c.1408A>T (p.Asn470Tyr)
| |
| 20 | g.49905774T>C | CA408945783 | SPATA2 | c.1408A>G (p.Asn470Asp)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905774T>G | CA408945794 | SPATA2 | c.1408A>C (p.Asn470His)
| |
| 20 | g.49905777_49905779del | CA9904826 | SPATA2 | c.1406_1408del (p.Thr469del)
| dbSNP ExAC gnomAD v2 |
| 20 | g.49905775G>A | CA511018168 | SPATA2 | c.1407C>T (p.Thr469=)
| dbSNP |
| 20 | g.49905775G>C | CA511018169 | SPATA2 | c.1407C>G (p.Thr469=)
| |
| 20 | g.49905775G= | CA2368281284 | SPATA2 | c.1407C= (p.Thr469=)
| |
| 20 | g.49905775G>T | CA511018170 | SPATA2 | c.1407C>A (p.Thr469=)
| gnomAD v4 |
| 20 | g.49905776G>A | CA315121801 | SPATA2 | c.1406C>T (p.Thr469Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905776G>C | CA408945798 | SPATA2 | c.1406C>G (p.Thr469Ser)
| |
| 20 | g.49905776G= | CA2368281285 | SPATA2 | c.1406C= (p.Thr469=)
| |
| 20 | g.49905776G>T | CA408945805 | SPATA2 | c.1406C>A (p.Thr469Asn)
| |
| 20 | g.49905777T>A | CA408945809 | SPATA2 | c.1405A>T (p.Thr469Ser)
| |
| 20 | g.49905777T>C | CA408945814 | SPATA2 | c.1405A>G (p.Thr469Ala)
| |
| 20 | g.49905777T>G | CA408945816 | SPATA2 | c.1405A>C (p.Thr469Pro)
| |
| 20 | g.49905778G>A | CA511018173 | SPATA2 | c.1404C>T (p.Ala468=)
| |
| 20 | g.49905778G>C | CA511018174 | SPATA2 | c.1404C>G (p.Ala468=)
| |
| 20 | g.49905778G>T | CA511018175 | SPATA2 | c.1404C>A (p.Ala468=)
| |
| 20 | g.49905779G>A | CA408945818 | SPATA2 | c.1403C>T (p.Ala468Val)
| |
| 20 | g.49905779G>C | CA408945822 | SPATA2 | c.1403C>G (p.Ala468Gly)
| |
| 20 | g.49905779G>T | CA408945823 | SPATA2 | c.1403C>A (p.Ala468Asp)
| |
| 20 | g.49905779_49905780insT | CA1018246835 | SPATA2 | c.1402_1403insA (p.Ala468AspfsTer14)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905780C>A | CA408945832 | SPATA2 | c.1402G>T (p.Ala468Ser)
| |
| 20 | g.49905780C= | CA2368281286 | SPATA2 | c.1402G= (p.Ala468=)
| |
| 20 | g.49905780C>G | CA408945828 | SPATA2 | c.1402G>C (p.Ala468Pro)
| |
| 20 | g.49905780C>T | CA9904827 | SPATA2 | c.1402G>A (p.Ala468Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905781G>A | CA9904828 | SPATA2 | c.1401C>T (p.Gly467=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905781G>C | CA511018179 | SPATA2 | c.1401C>G (p.Gly467=)
| |
| 20 | g.49905781G= | CA2368281287 | SPATA2 | c.1401C= (p.Gly467=)
| |
| 20 | g.49905781G>T | CA511018180 | SPATA2 | c.1401C>A (p.Gly467=)
| |
| 20 | g.49905782C>A | CA408945838 | SPATA2 | c.1400G>T (p.Gly467Val)
| |
| 20 | g.49905782C>G | CA408945840 | SPATA2 | c.1400G>C (p.Gly467Ala)
| |
| 20 | g.49905782C>T | CA408945844 | SPATA2 | c.1400G>A (p.Gly467Asp)
| |
| 20 | g.49905783C>A | CA408945847 | SPATA2 | c.1399G>T (p.Gly467Cys)
| dbSNP |
| 20 | g.49905783C= | CA2368281288 | SPATA2 | c.1399G= (p.Gly467=)
| |
| 20 | g.49905783C>G | CA408945851 | SPATA2 | c.1399G>C (p.Gly467Arg)
| |
| 20 | g.49905783C>T | CA408945853 | SPATA2 | c.1399G>A (p.Gly467Ser)
| |
| 20 | g.49905784T>A | CA511018182 | SPATA2 | c.1398A>T (p.Pro466=)
| |
| 20 | g.49905784T>C | CA511018183 | SPATA2 | c.1398A>G (p.Pro466=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905784T>G | CA511018184 | SPATA2 | c.1398A>C (p.Pro466=)
| |
| 20 | g.49905784T= | CA2368281289 | SPATA2 | c.1398A= (p.Pro466=)
| |
| 20 | g.49905784_49905789del | CA1018246841 | SPATA2 | c.1393_1398del (p.Arg465_Pro466del)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905785G>A | CA408945854 | SPATA2 | c.1397C>T (p.Pro466Leu)
| gnomAD v4 |
| 20 | g.49905785G>C | CA408945857 | SPATA2 | c.1397C>G (p.Pro466Arg)
| gnomAD v4 |
| 20 | g.49905785G>T | CA408945861 | SPATA2 | c.1397C>A (p.Pro466Gln)
| |
| 20 | g.49905787del | CA2816621289 | SPATA2 | c.1397del (p.Pro466GlnfsTer?)
| |
| 20 | g.49905786G>A | CA408945864 | SPATA2 | c.1396C>T (p.Pro466Ser)
| gnomAD v4 |
| 20 | g.49905786G>C | CA408945868 | SPATA2 | c.1396C>G (p.Pro466Ala)
| |
| 20 | g.49905786G>T | CA408945869 | SPATA2 | c.1396C>A (p.Pro466Thr)
| |
| 20 | g.49905787G>A | CA511018188 | SPATA2 | c.1395C>T (p.Arg465=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905787G>C | CA511018187 | SPATA2 | c.1395C>G (p.Arg465=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.49905787G= | CA2368281290 | SPATA2 | c.1395C= (p.Arg465=)
| |
| 20 | g.49905787G>T | CA511018186 | SPATA2 | c.1395C>A (p.Arg465=)
| |
| 20 | g.49905788C>A | CA408945874 | SPATA2 | c.1394G>T (p.Arg465Leu)
| |
| 20 | g.49905788C= | CA2368281291 | SPATA2 | c.1394G= (p.Arg465=)
| |
| 20 | g.49905788C>G | CA408945875 | SPATA2 | c.1394G>C (p.Arg465Pro)
| dbSNP |
| 20 | g.49905788C>T | CA9904829 | SPATA2 | c.1394G>A (p.Arg465His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905789G>A | CA315121833 | SPATA2 | c.1393C>T (p.Arg465Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49905789G>C | CA315121835 | SPATA2 | c.1393C>G (p.Arg465Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905789G= | CA2368281292 | SPATA2 | c.1393C= (p.Arg465=)
| |
| 20 | g.49905789G>T | CA408945877 | SPATA2 | c.1393C>A (p.Arg465Ser)
| |
| 20 | g.49905790del | CA2653279971 | SPATA2 | c.1393del (p.Arg465AlafsTer?)
| gnomAD v4 |
| 20 | g.49905790G>A | CA511018191 | SPATA2 | c.1392C>T (p.Asn464=)
| |
| 20 | g.49905790G>C | CA408945879 | SPATA2 | c.1392C>G (p.Asn464Lys)
| |
| 20 | g.49905790G>T | CA408945884 | SPATA2 | c.1392C>A (p.Asn464Lys)
| |
| 20 | g.49905791T>A | CA408945902 | SPATA2 | c.1391A>T (p.Asn464Ile)
| |
| 20 | g.49905791T>C | CA408945904 | SPATA2 | c.1391A>G (p.Asn464Ser)
| |
| 20 | g.49905791T>G | CA408945906 | SPATA2 | c.1391A>C (p.Asn464Thr)
| |
| 20 | g.49905791_49905792insATCAT | CA1018246852 | SPATA2 | c.1391_1392insTGATA (p.Arg465AspfsTer?)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905792T>A | CA408945908 | SPATA2 | c.1390A>T (p.Asn464Tyr)
| |
| 20 | g.49905792T>C | CA408945911 | SPATA2 | c.1390A>G (p.Asn464Asp)
| |
| 20 | g.49905792T>G | CA408945913 | SPATA2 | c.1390A>C (p.Asn464His)
| |
| 20 | g.49905793G>A | CA9904830 | SPATA2 | c.1389C>T (p.Cys463=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905793G>C | CA408945924 | SPATA2 | c.1389C>G (p.Cys463Trp)
| dbSNP |
| 20 | g.49905793G= | CA2368281293 | SPATA2 | c.1389C= (p.Cys463=)
| |
| 20 | g.49905793G>T | CA408945914 | SPATA2 | c.1389C>A (p.Cys463Ter)
| |
| 20 | g.49905794C>A | CA408945931 | SPATA2 | c.1388G>T (p.Cys463Phe)
| gnomAD v3 gnomAD v4 |
| 20 | g.49905794C>G | CA408945927 | SPATA2 | c.1388G>C (p.Cys463Ser)
| |
| 20 | g.49905794C>T | CA408945929 | SPATA2 | c.1388G>A (p.Cys463Tyr)
| |
| 20 | g.49905795A>C | CA408945934 | SPATA2 | c.1387T>G (p.Cys463Gly)
| |
| 20 | g.49905795A>G | CA408945936 | SPATA2 | c.1387T>C (p.Cys463Arg)
| |
| 20 | g.49905795A>T | CA408945939 | SPATA2 | c.1387T>A (p.Cys463Ser)
| |
| 20 | g.49905796G>A | CA511018197 | SPATA2 | c.1386C>T (p.Phe462=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905796G>C | CA408945942 | SPATA2 | c.1386C>G (p.Phe462Leu)
| |
| 20 | g.49905796G= | CA2368281294 | SPATA2 | c.1386C= (p.Phe462=)
| |
| 20 | g.49905796G>T | CA408945947 | SPATA2 | c.1386C>A (p.Phe462Leu)
| |
| 20 | g.49905797A>C | CA408945951 | SPATA2 | c.1385T>G (p.Phe462Cys)
| |
| 20 | g.49905797A>G | CA408945953 | SPATA2 | c.1385T>C (p.Phe462Ser)
| |
| 20 | g.49905797A>T | CA408945955 | SPATA2 | c.1385T>A (p.Phe462Tyr)
| |
| 20 | g.49905798A>C | CA408945959 | SPATA2 | c.1384T>G (p.Phe462Val)
| |
| 20 | g.49905798A>G | CA408945962 | SPATA2 | c.1384T>C (p.Phe462Leu)
| |
| 20 | g.49905798A>T | CA408945964 | SPATA2 | c.1384T>A (p.Phe462Ile)
| |
| 20 | g.49905799G>A | CA511018199 | SPATA2 | c.1383C>T (p.Gly461=)
| |
| 20 | g.49905799G>C | CA511018200 | SPATA2 | c.1383C>G (p.Gly461=)
| |
| 20 | g.49905799G>T | CA511018201 | SPATA2 | c.1383C>A (p.Gly461=)
| |
| 20 | g.49905800C>A | CA408945968 | SPATA2 | c.1382G>T (p.Gly461Val)
| |
| 20 | g.49905800C= | CA2368281295 | SPATA2 | c.1382G= (p.Gly461=)
| |
| 20 | g.49905800C>G | CA408945974 | SPATA2 | c.1382G>C (p.Gly461Ala)
| |
| 20 | g.49905800C>T | CA408945971 | SPATA2 | c.1382G>A (p.Gly461Asp)
| dbSNP gnomAD v2 |
| 20 | g.49905801del | CA2653279972 | SPATA2 | c.1382del (p.Gly461AlafsTer?)
| gnomAD v4 |
| 20 | g.49905801C>A | CA408945977 | SPATA2 | c.1381G>T (p.Gly461Cys)
| |
| 20 | g.49905801C>G | CA408945979 | SPATA2 | c.1381G>C (p.Gly461Arg)
| |
| 20 | g.49905801C>T | CA408945981 | SPATA2 | c.1381G>A (p.Gly461Ser)
| |
| 20 | g.49905802A= | CA2368281296 | SPATA2 | c.1380T= (p.Cys460=)
| |
| 20 | g.49905802A>C | CA408945983 | SPATA2 | c.1380T>G (p.Cys460Trp)
| |
| 20 | g.49905802A>G | CA315121842 | SPATA2 | c.1380T>C (p.Cys460=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.49905802A>T | CA408945985 | SPATA2 | c.1380T>A (p.Cys460Ter)
| |
| 20 | g.49905803C>A | CA408945988 | SPATA2 | c.1379G>T (p.Cys460Phe)
| |
| 20 | g.49905803C>G | CA408945990 | SPATA2 | c.1379G>C (p.Cys460Ser)
| |
| 20 | g.49905803C>T | CA408945992 | SPATA2 | c.1379G>A (p.Cys460Tyr)
| |
| 20 | g.49905804A= | CA2368281297 | SPATA2 | c.1378T= (p.Cys460=)
| |
| 20 | g.49905804A>C | CA408945993 | SPATA2 | c.1378T>G (p.Cys460Gly)
| |
| 20 | g.49905804A>G | CA408945994 | SPATA2 | c.1378T>C (p.Cys460Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.49905804A>T | CA408945996 | SPATA2 | c.1378T>A (p.Cys460Ser)
| |
| 20 | g.49905805G>A | CA511018206 | SPATA2 | c.1377C>T (p.Arg459=)
| |
| 20 | g.49905805G>C | CA511018207 | SPATA2 | c.1377C>G (p.Arg459=)
| |
| 20 | g.49905805G>T | CA511018208 | SPATA2 | c.1377C>A (p.Arg459=)
| |
| 20 | g.49905806C>A | CA315121845 | SPATA2 | c.1376G>T (p.Arg459Leu)
| dbSNP gnomAD v4 |
| 20 | g.49905806C= | CA2368281298 | SPATA2 | c.1376G= (p.Arg459=)
| |
| 20 | g.49905806C>G | CA408946002 | SPATA2 | c.1376G>C (p.Arg459Pro)
| |
| 20 | g.49905806C>T | CA9904831 | SPATA2 | c.1376G>A (p.Arg459His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905807G>A | CA9904832 | SPATA2 | c.1375C>T (p.Arg459Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.49905807G>C | CA408946003 | SPATA2 | c.1375C>G (p.Arg459Gly)
| |
| 20 | g.49905807G= | CA2368281299 | SPATA2 | c.1375C= (p.Arg459=)
| |
| 20 | g.49905807G>T | CA408946004 | SPATA2 | c.1375C>A (p.Arg459Ser)
| |
| 20 | g.49905808G>A | CA9904833 | SPATA2 | c.1374C>T (p.Ser458=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.49905808G>C | CA511018210 | SPATA2 | c.1374C>G (p.Ser458=)
| |
| 20 | g.49905808G= | CA2368281300 | SPATA2 | c.1374C= (p.Ser458=)
| |
| 20 | g.49905808G>T | CA511018209 | SPATA2 | c.1374C>A (p.Ser458=)
| |
