| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.54465711G>A | CA516689367 | FGD1 | c.1482C>T (p.Ile494=) | |
| X | g.54465711G>C | CA413244399 | FGD1 | c.1482C>G (p.Ile494Met) | |
| X | g.54465711G>T | CA516689368 | FGD1 | c.1482C>A (p.Ile494=) | |
| X | g.54465712A>C | CA413244402 | FGD1 | c.1481T>G (p.Ile494Ser) | |
| X | g.54465712A>G | CA413244405 | FGD1 | c.1481T>C (p.Ile494Thr) | |
| X | g.54465712A>T | CA413244407 | FGD1 | c.1481T>A (p.Ile494Asn) | |
| X | g.54465713T>A | CA413244410 | FGD1 | c.1480A>T (p.Ile494Phe) | |
| X | g.54465713T>C | CA413244411 | FGD1 | c.1480A>G (p.Ile494Val) | |
| X | g.54465713T>G | CA413244413 | FGD1 | c.1480A>C (p.Ile494Leu) | |
| X | g.54465714G>A | CA516689373 | FGD1 | c.1479C>T (p.Val493=) | dbSNP |
| X | g.54465714G>C | CA516689374 | FGD1 | c.1479C>G (p.Val493=) | |
| X | g.54465714G= | CA2430188898 | FGD1 | c.1479C= (p.Val493=) | |
| X | g.54465714G>T | CA328937294 | FGD1 | c.1479C>A (p.Val493=) | dbSNP |
| X | g.54465715A>C | CA413244414 | FGD1 | c.1478T>G (p.Val493Gly) | |
| X | g.54465715A>G | CA413244416 | FGD1 | c.1478T>C (p.Val493Ala) | |
| X | g.54465715A>T | CA413244417 | FGD1 | c.1478T>A (p.Val493Asp) | |
| X | g.54465716C>A | CA413244419 | FGD1 | c.1477G>T (p.Val493Phe) | |
| X | g.54465716C>G | CA413244421 | FGD1 | c.1477G>C (p.Val493Leu) | |
| X | g.54465716C>T | CA413244422 | FGD1 | c.1477G>A (p.Val493Ile) | |
| X | g.54465717T>A | CA413244424 | FGD1 | c.1476A>T (p.Lys492Asn) | |
| X | g.54465717T>C | CA516689376 | FGD1 | c.1476A>G (p.Lys492=) | |
| X | g.54465717T>G | CA413244423 | FGD1 | c.1476A>C (p.Lys492Asn) | |
| X | g.54465718T>A | CA413244425 | FGD1 | c.1475A>T (p.Lys492Ile) | |
| X | g.54465718T>C | CA413244427 | FGD1 | c.1475A>G (p.Lys492Arg) | |
| X | g.54465718T>G | CA413244429 | FGD1 | c.1475A>C (p.Lys492Thr) | |
| X | g.54465719T>A | CA413244435 | FGD1 | c.1474A>T (p.Lys492Ter) | |
| X | g.54465719T>C | CA413244438 | FGD1 | c.1474A>G (p.Lys492Glu) | |
| X | g.54465719T>G | CA413244440 | FGD1 | c.1474A>C (p.Lys492Gln) | |
| X | g.54465720A= | CA2430188899 | FGD1 | c.1473T= (p.Phe491=) | |
| X | g.54465720A>C | CA413244442 | FGD1 | c.1473T>G (p.Phe491Leu) | |
| X | g.54465720A>G | CA516689382 | FGD1 | c.1473T>C (p.Phe491=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465720A>T | CA413244443 | FGD1 | c.1473T>A (p.Phe491Leu) | |
| X | g.54465721A>C | CA413244445 | FGD1 | c.1472T>G (p.Phe491Cys) | |
| X | g.54465721A>G | CA413244447 | FGD1 | c.1472T>C (p.Phe491Ser) | |
| X | g.54465721A>T | CA413244450 | FGD1 | c.1472T>A (p.Phe491Tyr) | |
| X | g.54465722A>C | CA413244453 | FGD1 | c.1471T>G (p.Phe491Val) | |
| X | g.54465722A>G | CA413244455 | FGD1 | c.1471T>C (p.Phe491Leu) | |
| X | g.54465722A>T | CA413244461 | FGD1 | c.1471T>A (p.Phe491Ile) | |
| X | g.54465723C>A | CA413244464 | FGD1 | c.1470G>T (p.Gln490His) | |
| X | g.54465723C= | CA2430188900 | FGD1 | c.1470G= (p.Gln490=) | |
| X | g.54465723C>G | CA413244466 | FGD1 | c.1470G>C (p.Gln490His) | |
| X | g.54465723C>T | CA516689386 | FGD1 | c.1470G>A (p.Gln490=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465724T>A | CA413244467 | FGD1 | c.1469A>T (p.Gln490Leu) | |
| X | g.54465724T>C | CA413244469 | FGD1 | c.1469A>G (p.Gln490Arg) | |
| X | g.54465724T>G | CA413244468 | FGD1 | c.1469A>C (p.Gln490Pro) | |
| X | g.54465725G>A | CA203480 | FGD1 | c.1468C>T (p.Gln490Ter) | ClinVar dbSNP |
| X | g.54465725G>C | CA413244471 | FGD1 | c.1468C>G (p.Gln490Glu) | |
| X | g.54465725G= | CA2430188901 | FGD1 | c.1468C= (p.Gln490=) | |
| X | g.54465725G>T | CA413244473 | FGD1 | c.1468C>A (p.Gln490Lys) | |
| X | g.54465726G>A | CA10425097 | FGD1 | c.1467C>T (p.Thr489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54465726G>C | CA10425096 | FGD1 | c.1467C>G (p.Thr489=) | dbSNP ExAC gnomAD v2 |
| X | g.54465726G= | CA2430188902 | FGD1 | c.1467C= (p.Thr489=) | |
| X | g.54465726G>T | CA516689388 | FGD1 | c.1467C>A (p.Thr489=) | |
| X | g.54465727G>A | CA413244475 | FGD1 | c.1466C>T (p.Thr489Ile) | |
| X | g.54465727G>C | CA413244477 | FGD1 | c.1466C>G (p.Thr489Ser) | |
| X | g.54465727G= | CA2430188903 | FGD1 | c.1466C= (p.Thr489=) | |
| X | g.54465727G>T | CA10425098 | FGD1 | c.1466C>A (p.Thr489Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54465728T>A | CA413244482 | FGD1 | c.1465A>T (p.Thr489Ser) | |
| X | g.54465728T>C | CA413244484 | FGD1 | c.1465A>G (p.Thr489Ala) | |
| X | g.54465728T>G | CA413244485 | FGD1 | c.1465A>C (p.Thr489Pro) | |
| X | g.54465729G>A | CA10425099 | FGD1 | c.1464C>T (p.Ser488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465729G>C | CA516689395 | FGD1 | c.1464C>G (p.Ser488=) | |
| X | g.54465729G= | CA2430188904 | FGD1 | c.1464C= (p.Ser488=) | |
| X | g.54465729G>T | CA516689394 | FGD1 | c.1464C>A (p.Ser488=) | |
| X | g.54465730G>A | CA413244489 | FGD1 | c.1463C>T (p.Ser488Phe) | |
| X | g.54465730G>C | CA413244487 | FGD1 | c.1463C>G (p.Ser488Cys) | |
| X | g.54465730G>T | CA413244488 | FGD1 | c.1463C>A (p.Ser488Tyr) | |
| X | g.54465731A>C | CA413244491 | FGD1 | c.1462T>G (p.Ser488Ala) | |
| X | g.54465731A>G | CA413244495 | FGD1 | c.1462T>C (p.Ser488Pro) | |
| X | g.54465731A>T | CA413244497 | FGD1 | c.1462T>A (p.Ser488Thr) | |
| X | g.54465732G>A | CA516689397 | FGD1 | c.1461C>T (p.Arg487=) | |
| X | g.54465732G>C | CA516689399 | FGD1 | c.1461C>G (p.Arg487=) | |
| X | g.54465732G>T | CA516689401 | FGD1 | c.1461C>A (p.Arg487=) | |
| X | g.54465733C>A | CA413244504 | FGD1 | c.1460G>T (p.Arg487Leu) | |
| X | g.54465733C= | CA2430188905 | FGD1 | c.1460G= (p.Arg487=) | |
| X | g.54465733C>G | CA413244506 | FGD1 | c.1460G>C (p.Arg487Pro) | |
| X | g.54465733C>T | CA10425100 | FGD1 | c.1460G>A (p.Arg487His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54465734G>A | CA413244510 | FGD1 | c.1459C>T (p.Arg487Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.54465734G>C | CA413244511 | FGD1 | c.1459C>G (p.Arg487Gly) | |
| X | g.54465734G= | CA2430188906 | FGD1 | c.1459C= (p.Arg487=) | |
| X | g.54465734G>T | CA413244512 | FGD1 | c.1459C>A (p.Arg487Ser) | |
| X | g.54465735C>A | CA413244513 | FGD1 | c.1458G>T (p.Glu486Asp) | |
| X | g.54465735C>G | CA413244514 | FGD1 | c.1458G>C (p.Glu486Asp) | |
| X | g.54465735C>T | CA516689403 | FGD1 | c.1458G>A (p.Glu486=) | |
| X | g.54465736T>A | CA413244522 | FGD1 | c.1457A>T (p.Glu486Val) | |
| X | g.54465736T>C | CA413244520 | FGD1 | c.1457A>G (p.Glu486Gly) | dbSNP |
| X | g.54465736T>G | CA413244517 | FGD1 | c.1457A>C (p.Glu486Ala) | |
| X | g.54465736T= | CA2430188907 | FGD1 | c.1457A= (p.Glu486=) | |
| X | g.54465737C>A | CA413244524 | FGD1 | c.1456G>T (p.Glu486Ter) | |
| X | g.54465737C>G | CA413244526 | FGD1 | c.1456G>C (p.Glu486Gln) | |
| X | g.54465737C>T | CA413244528 | FGD1 | c.1456G>A (p.Glu486Lys) | |
| X | g.54465738T>A | CA516689407 | FGD1 | c.1455A>T (p.Thr485=) | |
| X | g.54465738T>C | CA516689408 | FGD1 | c.1455A>G (p.Thr485=) | |
| X | g.54465738T>G | CA516689409 | FGD1 | c.1455A>C (p.Thr485=) | |
| X | g.54465739G>A | CA413244530 | FGD1 | c.1454C>T (p.Thr485Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465739G>C | CA413244531 | FGD1 | c.1454C>G (p.Thr485Arg) | |
| X | g.54465739G= | CA2430188908 | FGD1 | c.1454C= (p.Thr485=) | |
| X | g.54465739G>T | CA413244532 | FGD1 | c.1454C>A (p.Thr485Lys) | |
| X | g.54465740T>A | CA413244534 | FGD1 | c.1453A>T (p.Thr485Ser) | |
| X | g.54465740T>C | CA413244535 | FGD1 | c.1453A>G (p.Thr485Ala) | |
| X | g.54465740T>G | CA413244537 | FGD1 | c.1453A>C (p.Thr485Pro) | |
| X | g.54465741C>A | CA413244546 | FGD1 | c.1452G>T (p.Trp484Cys) | |
| X | g.54465741C= | CA2430188909 | FGD1 | c.1452G= (p.Trp484=) | |
| X | g.54465741C>G | CA413244548 | FGD1 | c.1452G>C (p.Trp484Cys) | |
| X | g.54465741C>T | CA413244553 | FGD1 | c.1452G>A (p.Trp484Ter) | ClinVar dbSNP |
| X | g.54465742del | CA2551360615 | FGD1 | c.1452del (p.Trp484Ter) | |
| X | g.54465742C>A | CA413244557 | FGD1 | c.1451G>T (p.Trp484Leu) | |
| X | g.54465742C>G | CA413244560 | FGD1 | c.1451G>C (p.Trp484Ser) | |
| X | g.54465742C>T | CA413244555 | FGD1 | c.1451G>A (p.Trp484Ter) | |
| X | g.54465743A>C | CA413244569 | FGD1 | c.1450T>G (p.Trp484Gly) | |
| X | g.54465743A>G | CA413244572 | FGD1 | c.1450T>C (p.Trp484Arg) | |
| X | g.54465743A>T | CA413244573 | FGD1 | c.1450T>A (p.Trp484Arg) | |
| X | g.54465744G>A | CA516689359 | FGD1 | c.1449C>T (p.Thr483=) | |
| X | g.54465744G>C | CA516689360 | FGD1 | c.1449C>G (p.Thr483=) | |
| X | g.54465744G>T | CA516689356 | FGD1 | c.1449C>A (p.Thr483=) | |
| X | g.54465745G>A | CA413244576 | FGD1 | c.1448C>T (p.Thr483Ile) | COSMIC |
| X | g.54465745G>C | CA413244577 | FGD1 | c.1448C>G (p.Thr483Ser) | |
| X | g.54465745G= | CA2430188910 | FGD1 | c.1448C= (p.Thr483=) | |
| X | g.54465745G>T | CA413244579 | FGD1 | c.1448C>A (p.Thr483Asn) | |
| X | g.54465746T>A | CA413244583 | FGD1 | c.1447A>T (p.Thr483Ser) | |
| X | g.54465746T>C | CA413244589 | FGD1 | c.1447A>G (p.Thr483Ala) | |
| X | g.54465746T>G | CA413244587 | FGD1 | c.1447A>C (p.Thr483Pro) | |
| X | g.54465748_54465750dup | CA658824577 | FGD1 | c.1445_1447dup (p.Asn482_Thr483insAsn) | ClinVar dbSNP |
| X | g.54465747G>A | CA516689366 | FGD1 | c.1446C>T (p.Asn482=) | |
| X | g.54465747G>C | CA413244591 | FGD1 | c.1446C>G (p.Asn482Lys) | |
| X | g.54465747G= | CA2430188911 | FGD1 | c.1446C= (p.Asn482=) | |
| X | g.54465747G>T | CA413244593 | FGD1 | c.1446C>A (p.Asn482Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465748T>A | CA413244595 | FGD1 | c.1445A>T (p.Asn482Ile) | |
| X | g.54465748T>C | CA413244598 | FGD1 | c.1445A>G (p.Asn482Ser) | gnomAD v4 |
| X | g.54465748T>G | CA413244599 | FGD1 | c.1445A>C (p.Asn482Thr) | |
| X | g.54465749T>A | CA413244606 | FGD1 | c.1444A>T (p.Asn482Tyr) | |
| X | g.54465749T>C | CA413244610 | FGD1 | c.1444A>G (p.Asn482Asp) | |
| X | g.54465749T>G | CA413244603 | FGD1 | c.1444A>C (p.Asn482His) | |
| X | g.54465750G>A | CA516689377 | FGD1 | c.1443C>T (p.Val481=) | |
| X | g.54465750G>C | CA516689380 | FGD1 | c.1443C>G (p.Val481=) | |
| X | g.54465750G>T | CA516689375 | FGD1 | c.1443C>A (p.Val481=) | |
| X | g.54465751A>C | CA413244617 | FGD1 | c.1442T>G (p.Val481Gly) | |
| X | g.54465751A>G | CA413244614 | FGD1 | c.1442T>C (p.Val481Ala) | |
| X | g.54465751A>T | CA413244621 | FGD1 | c.1442T>A (p.Val481Asp) | |
| X | g.54465752C>A | CA413244623 | FGD1 | c.1441G>T (p.Val481Phe) | |
| X | g.54465752C= | CA2430188912 | FGD1 | c.1441G= (p.Val481=) | |
| X | g.54465752C>G | CA413244631 | FGD1 | c.1441G>C (p.Val481Leu) | |
| X | g.54465752C>T | CA413244625 | FGD1 | c.1441G>A (p.Val481Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.54465753C>A | CA516689387 | FGD1 | c.1440G>T (p.Leu480=) | |
| X | g.54465753C= | CA2430188913 | FGD1 | c.1440G= (p.Leu480=) | |
| X | g.54465753C>G | CA10425101 | FGD1 | c.1440G>C (p.Leu480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465753C>T | CA516689385 | FGD1 | c.1440G>A (p.Leu480=) | gnomAD v4 |
| X | g.54465754A>C | CA413244635 | FGD1 | c.1439T>G (p.Leu480Arg) | |
| X | g.54465754A>G | CA413244640 | FGD1 | c.1439T>C (p.Leu480Pro) | |
| X | g.54465754A>T | CA413244642 | FGD1 | c.1439T>A (p.Leu480Gln) | |
| X | g.54465755G>A | CA516689389 | FGD1 | c.1438C>T (p.Leu480=) | |
| X | g.54465755G>C | CA413244644 | FGD1 | c.1438C>G (p.Leu480Val) | |
| X | g.54465755G>T | CA413244645 | FGD1 | c.1438C>A (p.Leu480Met) | |
| X | g.54465756C>A | CA413244646 | FGD1 | c.1437G>T (p.Glu479Asp) | COSMIC |
| X | g.54465756C= | CA2430188914 | FGD1 | c.1437G= (p.Glu479=) | |
| X | g.54465756C>G | CA413244647 | FGD1 | c.1437G>C (p.Glu479Asp) | |
| X | g.54465756C>T | CA516689393 | FGD1 | c.1437G>A (p.Glu479=) | dbSNP |
| X | g.54465757T>A | CA413244649 | FGD1 | c.1436A>T (p.Glu479Val) | |
| X | g.54465757T>C | CA413244650 | FGD1 | c.1436A>G (p.Glu479Gly) | |
| X | g.54465757T>G | CA413244653 | FGD1 | c.1436A>C (p.Glu479Ala) | |
| X | g.54465758C>A | CA413244658 | FGD1 | c.1435G>T (p.Glu479Ter) | |
| X | g.54465758C>G | CA413244657 | FGD1 | c.1435G>C (p.Glu479Gln) | |
| X | g.54465758C>T | CA413244656 | FGD1 | c.1435G>A (p.Glu479Lys) | |
| X | g.54465759del | CA2511457031 | FGD1 | c.1435del (p.Glu479SerfsTer29) | |
| X | g.54465759C>A | CA516689398 | FGD1 | c.1434G>T (p.Val478=) | |
| X | g.54465759C>G | CA516689400 | FGD1 | c.1434G>C (p.Val478=) | |
| X | g.54465759C>T | CA516689402 | FGD1 | c.1434G>A (p.Val478=) | |
| X | g.54465760A>C | CA413244659 | FGD1 | c.1433T>G (p.Val478Gly) | |
| X | g.54465760A>G | CA413244660 | FGD1 | c.1433T>C (p.Val478Ala) | |
| X | g.54465760A>T | CA413244661 | FGD1 | c.1433T>A (p.Val478Glu) | |
| X | g.54465761C>A | CA10425103 | FGD1 | c.1432G>T (p.Val478Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465761C= | CA2430188915 | FGD1 | c.1432G= (p.Val478=) | |
| X | g.54465761C>G | CA413244665 | FGD1 | c.1432G>C (p.Val478Leu) | |
| X | g.54465761C>T | CA10425102 | FGD1 | c.1432G>A (p.Val478Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465762G>A | CA516689404 | FGD1 | c.1431C>T (p.Ala477=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465762G>C | CA516689405 | FGD1 | c.1431C>G (p.Ala477=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465762G= | CA2430188916 | FGD1 | c.1431C= (p.Ala477=) | |
| X | g.54465762G>T | CA516689406 | FGD1 | c.1431C>A (p.Ala477=) | |
| X | g.54465763G>A | CA413244673 | FGD1 | c.1430C>T (p.Ala477Val) | |
| X | g.54465763G>C | CA413244675 | FGD1 | c.1430C>G (p.Ala477Gly) | |
| X | g.54465763G>T | CA413244677 | FGD1 | c.1430C>A (p.Ala477Asp) | |
| X | g.54465764C>A | CA413244679 | FGD1 | c.1429G>T (p.Ala477Ser) | |
| X | g.54465764C>G | CA413244681 | FGD1 | c.1429G>C (p.Ala477Pro) | |
| X | g.54465764C>T | CA413244683 | FGD1 | c.1429G>A (p.Ala477Thr) | |
| X | g.54465765C>A | CA516689410 | FGD1 | c.1428G>T (p.Arg476=) | |
| X | g.54465765C>G | CA516689411 | FGD1 | c.1428G>C (p.Arg476=) | gnomAD v4 |
| X | g.54465765C>T | CA516689412 | FGD1 | c.1428G>A (p.Arg476=) | |
| X | g.54465766C>A | CA413244691 | FGD1 | c.1427G>T (p.Arg476Leu) | |
| X | g.54465766C= | CA2430188917 | FGD1 | c.1427G= (p.Arg476=) | |
| X | g.54465766C>G | CA413244688 | FGD1 | c.1427G>C (p.Arg476Pro) | |
| X | g.54465766C>T | CA413244686 | FGD1 | c.1427G>A (p.Arg476Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465767G>A | CA413244699 | FGD1 | c.1426C>T (p.Arg476Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.54465767G>C | CA413244703 | FGD1 | c.1426C>G (p.Arg476Gly) | |
| X | g.54465767G= | CA2430188918 | FGD1 | c.1426C= (p.Arg476=) | |
| X | g.54465767G>T | CA516689413 | FGD1 | c.1426C>A (p.Arg476=) | |
| X | g.54465768G>A | CA516689414 | FGD1 | c.1425C>T (p.Asp475=) | |
| X | g.54465768G>C | CA413244705 | FGD1 | c.1425C>G (p.Asp475Glu) | |
| X | g.54465768G>T | CA413244707 | FGD1 | c.1425C>A (p.Asp475Glu) | |
| X | g.54465769T>A | CA413244712 | FGD1 | c.1424A>T (p.Asp475Val) | |
| X | g.54465769T>C | CA413244724 | FGD1 | c.1424A>G (p.Asp475Gly) | |
| X | g.54465769T>G | CA413244728 | FGD1 | c.1424A>C (p.Asp475Ala) | |
| X | g.54465770C>A | CA413244731 | FGD1 | c.1423G>T (p.Asp475Tyr) | |
| X | g.54465770C>G | CA413244733 | FGD1 | c.1423G>C (p.Asp475His) | |
| X | g.54465770C>T | CA413244735 | FGD1 | c.1423G>A (p.Asp475Asn) | |
| X | g.54465771A>C | CA413244737 | FGD1 | c.1422T>G (p.Phe474Leu) | |
| X | g.54465771A>G | CA516689415 | FGD1 | c.1422T>C (p.Phe474=) | |
| X | g.54465771A>T | CA413244738 | FGD1 | c.1422T>A (p.Phe474Leu) | |
| X | g.54465773del | CA2499226797 | FGD1 | c.1422del (p.Phe474LeufsTer?) | ClinVar dbSNP |
| X | g.54465772A>C | CA413244746 | FGD1 | c.1421T>G (p.Phe474Cys) | |
| X | g.54465772A>G | CA413244744 | FGD1 | c.1421T>C (p.Phe474Ser) | |
| X | g.54465772A>T | CA413244741 | FGD1 | c.1421T>A (p.Phe474Tyr) | |
| X | g.54465773A>C | CA413244761 | FGD1 | c.1420T>G (p.Phe474Val) | |
| X | g.54465773A>G | CA413244766 | FGD1 | c.1420T>C (p.Phe474Leu) | |
| X | g.54465773A>T | CA413244779 | FGD1 | c.1420T>A (p.Phe474Ile) | |
| X | g.54465774G>A | CA10425104 | FGD1 | c.1419C>T (p.Asn473=) | dbSNP ExAC gnomAD v2 |
| X | g.54465774G>C | CA413244785 | FGD1 | c.1419C>G (p.Asn473Lys) | |
| X | g.54465774G= | CA2430188919 | FGD1 | c.1419C= (p.Asn473=) | |
| X | g.54465774G>T | CA413244786 | FGD1 | c.1419C>A (p.Asn473Lys) | |
| X | g.54465775T>A | CA413244793 | FGD1 | c.1418A>T (p.Asn473Ile) | |
| X | g.54465775T>C | CA413244794 | FGD1 | c.1418A>G (p.Asn473Ser) | |
| X | g.54465775T>G | CA413244797 | FGD1 | c.1418A>C (p.Asn473Thr) | |
| X | g.54465776T>A | CA413244800 | FGD1 | c.1417A>T (p.Asn473Tyr) | |
| X | g.54465776T>C | CA413244803 | FGD1 | c.1417A>G (p.Asn473Asp) | |
| X | g.54465776T>G | CA413244809 | FGD1 | c.1417A>C (p.Asn473His) | |
| X | g.54465777C>A | CA413244818 | FGD1 | c.1416G>T (p.Lys472Asn) | |
| X | g.54465777C= | CA2430188920 | FGD1 | c.1416G= (p.Lys472=) | |
| X | g.54465777C>G | CA413244813 | FGD1 | c.1416G>C (p.Lys472Asn) | |
| X | g.54465777C>T | CA10425105 | FGD1 | c.1416G>A (p.Lys472=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54465778T>A | CA413244820 | FGD1 | c.1415A>T (p.Lys472Met) | |
| X | g.54465778T>C | CA413244824 | FGD1 | c.1415A>G (p.Lys472Arg) | |
| X | g.54465778T>G | CA413244823 | FGD1 | c.1415A>C (p.Lys472Thr) | |
| X | g.54465779T>A | CA413244827 | FGD1 | c.1414A>T (p.Lys472Ter) | |
| X | g.54465779T>C | CA413244830 | FGD1 | c.1414A>G (p.Lys472Glu) | |
| X | g.54465779T>G | CA413244833 | FGD1 | c.1414A>C (p.Lys472Gln) | |
| X | g.54465780C>A | CA516689416 | FGD1 | c.1413G>T (p.Val471=) | |
| X | g.54465780C>G | CA516689417 | FGD1 | c.1413G>C (p.Val471=) | |
| X | g.54465780C>T | CA516689418 | FGD1 | c.1413G>A (p.Val471=) | gnomAD v4 |
| X | g.54465781A= | CA2430188921 | FGD1 | c.1412T= (p.Val471=) | |
| X | g.54465781A>C | CA413244835 | FGD1 | c.1412T>G (p.Val471Gly) | |
| X | g.54465781A>G | CA413244837 | FGD1 | c.1412T>C (p.Val471Ala) | |
| X | g.54465781A>T | CA413244839 | FGD1 | c.1412T>A (p.Val471Glu) | dbSNP |
| X | g.54465782C>A | CA413244841 | FGD1 | c.1411G>T (p.Val471Leu) | |
| X | g.54465782C= | CA2430188922 | FGD1 | c.1411G= (p.Val471=) | |
| X | g.54465782C>G | CA413244843 | FGD1 | c.1411G>C (p.Val471Leu) | |
| X | g.54465782C>T | CA328937321 | FGD1 | c.1411G>A (p.Val471Met) | dbSNP |
| X | g.54465783A>C | CA413244852 | FGD1 | c.1410T>G (p.Tyr470Ter) | |
| X | g.54465783A>G | CA516689419 | FGD1 | c.1410T>C (p.Tyr470=) | gnomAD v4 |
| X | g.54465783A>T | CA413244856 | FGD1 | c.1410T>A (p.Tyr470Ter) | |
| X | g.54465784T>A | CA413244870 | FGD1 | c.1409A>T (p.Tyr470Phe) | |
| X | g.54465784T>C | CA413244862 | FGD1 | c.1409A>G (p.Tyr470Cys) | ClinVar |
| X | g.54465784T>G | CA413244865 | FGD1 | c.1409A>C (p.Tyr470Ser) | |
| X | g.54465785A>C | CA413244874 | FGD1 | c.1408T>G (p.Tyr470Asp) | |
| X | g.54465785A>G | CA413244877 | FGD1 | c.1408T>C (p.Tyr470His) | |
| X | g.54465785A>T | CA413244878 | FGD1 | c.1408T>A (p.Tyr470Asn) | |
| X | g.54465786C>A | CA413244881 | FGD1 | c.1407G>T (p.Glu469Asp) | |
| X | g.54465786C>G | CA413244883 | FGD1 | c.1407G>C (p.Glu469Asp) | |
| X | g.54465786C>T | CA516689420 | FGD1 | c.1407G>A (p.Glu469=) | |
| X | g.54465787T>A | CA413244886 | FGD1 | c.1406A>T (p.Glu469Val) | |
| X | g.54465787T>C | CA413244892 | FGD1 | c.1406A>G (p.Glu469Gly) | |
| X | g.54465787T>G | CA413244894 | FGD1 | c.1406A>C (p.Glu469Ala) | |
| X | g.54465788C>A | CA413244897 | FGD1 | c.1405G>T (p.Glu469Ter) | |
| X | g.54465788C>G | CA413244898 | FGD1 | c.1405G>C (p.Glu469Gln) | |
| X | g.54465788C>T | CA413244899 | FGD1 | c.1405G>A (p.Glu469Lys) | COSMIC |
| X | g.54465789A>C | CA516689422 | FGD1 | c.1404T>G (p.Gly468=) | |
| X | g.54465789A>G | CA516689423 | FGD1 | c.1404T>C (p.Gly468=) | |
| X | g.54465789A>T | CA516689425 | FGD1 | c.1404T>A (p.Gly468=) | |
| X | g.54465790C>A | CA413244903 | FGD1 | c.1403G>T (p.Gly468Val) | |
| X | g.54465790C>G | CA413244904 | FGD1 | c.1403G>C (p.Gly468Ala) | |
| X | g.54465790C>T | CA413244900 | FGD1 | c.1403G>A (p.Gly468Asp) | |
| X | g.54465791C>A | CA413244907 | FGD1 | c.1402G>T (p.Gly468Cys) | |
| X | g.54465791C>G | CA413244908 | FGD1 | c.1402G>C (p.Gly468Arg) | |
| X | g.54465791C>T | CA413244909 | FGD1 | c.1402G>A (p.Gly468Ser) | |
| X | g.54465792A>C | CA413244911 | FGD1 | c.1401T>G (p.Tyr467Ter) | |
| X | g.54465792A>G | CA516689430 | FGD1 | c.1401T>C (p.Tyr467=) | gnomAD v4 |
| X | g.54465792A>T | CA413244913 | FGD1 | c.1401T>A (p.Tyr467Ter) | |
| X | g.54465793T>A | CA413244922 | FGD1 | c.1400A>T (p.Tyr467Phe) | |
| X | g.54465793T>C | CA413244919 | FGD1 | c.1400A>G (p.Tyr467Cys) | gnomAD v4 |
| X | g.54465793T>G | CA413244916 | FGD1 | c.1400A>C (p.Tyr467Ser) | |
| X | g.54465794A>C | CA413244924 | FGD1 | c.1399T>G (p.Tyr467Asp) | |
| X | g.54465794A>G | CA413244925 | FGD1 | c.1399T>C (p.Tyr467His) | |
| X | g.54465794A>T | CA413244929 | FGD1 | c.1399T>A (p.Tyr467Asn) | |
| X | g.54465795C>A | CA413244934 | FGD1 | c.1398G>T (p.Met466Ile) | |
| X | g.54465795C>G | CA413244935 | FGD1 | c.1398G>C (p.Met466Ile) | |
| X | g.54465795C>T | CA413244938 | FGD1 | c.1398G>A (p.Met466Ile) | |
| X | g.54465796A>C | CA413244942 | FGD1 | c.1397T>G (p.Met466Arg) | |
| X | g.54465796A>G | CA413244952 | FGD1 | c.1397T>C (p.Met466Thr) | |
| X | g.54465796A>T | CA413244946 | FGD1 | c.1397T>A (p.Met466Lys) | |
| X | g.54465797T>A | CA413244955 | FGD1 | c.1396A>T (p.Met466Leu) | |
| X | g.54465797T>C | CA121197 | FGD1 | c.1396A>G (p.Met466Val) | ClinVar dbSNP |
| X | g.54465797T>G | CA413244967 | FGD1 | c.1396A>C (p.Met466Leu) | |
| X | g.54465797T= | CA2430188923 | FGD1 | c.1396A= (p.Met466=) | |
| X | g.54465798C>A | CA413244970 | FGD1 | c.1395G>T (p.Lys465Asn) | |
| X | g.54465798C>G | CA413244972 | FGD1 | c.1395G>C (p.Lys465Asn) | |
| X | g.54465798C>T | CA516689437 | FGD1 | c.1395G>A (p.Lys465=) | |
| X | g.54465799T>A | CA413244980 | FGD1 | c.1394A>T (p.Lys465Met) | |
| X | g.54465799T>C | CA413244984 | FGD1 | c.1394A>G (p.Lys465Arg) | gnomAD v4 |
| X | g.54465799T>G | CA413244986 | FGD1 | c.1394A>C (p.Lys465Thr) | |
| X | g.54465800T>A | CA413244988 | FGD1 | c.1393A>T (p.Lys465Ter) | |
| X | g.54465800T>C | CA413244990 | FGD1 | c.1393A>G (p.Lys465Glu) | |
| X | g.54465800T>G | CA413244992 | FGD1 | c.1393A>C (p.Lys465Gln) | |
| X | g.54465801G>A | CA10425106 | FGD1 | c.1392C>T (p.Leu464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54465801G>C | CA516689440 | FGD1 | c.1392C>G (p.Leu464=) | |
| X | g.54465801G= | CA2430188924 | FGD1 | c.1392C= (p.Leu464=) | |
| X | g.54465801G>T | CA516689442 | FGD1 | c.1392C>A (p.Leu464=) | |
| X | g.54465801dup | CA2580101236 | FGD1 | c.1392dup (p.Lys465GlnfsTer5) | ClinVar |
| X | g.54465802A>C | CA413245005 | FGD1 | c.1391T>G (p.Leu464Arg) | |
| X | g.54465802A>G | CA413245001 | FGD1 | c.1391T>C (p.Leu464Pro) | |
| X | g.54465802A>T | CA413245000 | FGD1 | c.1391T>A (p.Leu464His) | |
| X | g.54465803G>A | CA413245008 | FGD1 | c.1390C>T (p.Leu464Phe) | |
| X | g.54465803G>C | CA413245015 | FGD1 | c.1390C>G (p.Leu464Val) | |
| X | g.54465803G>T | CA413245009 | FGD1 | c.1390C>A (p.Leu464Ile) | |
| X | g.54465804G>A | CA516689448 | FGD1 | c.1389C>T (p.Phe463=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.54465804G>C | CA413245018 | FGD1 | c.1389C>G (p.Phe463Leu) | |
| X | g.54465804G= | CA2430188925 | FGD1 | c.1389C= (p.Phe463=) | |
| X | g.54465804G>T | CA413245020 | FGD1 | c.1389C>A (p.Phe463Leu) | |
| X | g.54465805A>C | CA413245021 | FGD1 | c.1388T>G (p.Phe463Cys) | |
| X | g.54465805A>G | CA413245022 | FGD1 | c.1388T>C (p.Phe463Ser) | |
| X | g.54465805A>T | CA413245024 | FGD1 | c.1388T>A (p.Phe463Tyr) | |
| X | g.54465806A= | CA2430188926 | FGD1 | c.1387T= (p.Phe463=) | |
| X | g.54465806A>C | CA413245027 | FGD1 | c.1387T>G (p.Phe463Val) | |
| X | g.54465806A>G | CA413245029 | FGD1 | c.1387T>C (p.Phe463Leu) | ClinVar dbSNP |
| X | g.54465806A>T | CA413245031 | FGD1 | c.1387T>A (p.Phe463Ile) | |
| X | g.54465807G>A | CA516689450 | FGD1 | c.1386C>T (p.Pro462=) | |
| X | g.54465807G>C | CA516689453 | FGD1 | c.1386C>G (p.Pro462=) | |
| X | g.54465807G>T | CA516689451 | FGD1 | c.1386C>A (p.Pro462=) | |
| X | g.54465811dup | CA920413443 | FGD1 | c.1386dup (p.Phe463LeufsTer7) | dbSNP |
| X | g.54465808G>A | CA413245033 | FGD1 | c.1385C>T (p.Pro462Leu) | COSMIC |
| X | g.54465808G>C | CA413245035 | FGD1 | c.1385C>G (p.Pro462Arg) | |
| X | g.54465808G>T | CA413245038 | FGD1 | c.1385C>A (p.Pro462His) | |
| X | g.54465809G>A | CA413245039 | FGD1 | c.1384C>T (p.Pro462Ser) | |
| X | g.54465809G>C | CA413245041 | FGD1 | c.1384C>G (p.Pro462Ala) | dbSNP |
| X | g.54465809G= | CA2430188927 | FGD1 | c.1384C= (p.Pro462=) | |
| X | g.54465809G>T | CA413245043 | FGD1 | c.1384C>A (p.Pro462Thr) | |
| X | g.54465810G>A | CA516689457 | FGD1 | c.1383C>T (p.Ala461=) | |
| X | g.54465810G>C | CA516689458 | FGD1 | c.1383C>G (p.Ala461=) | |
| X | g.54465810G>T | CA516689459 | FGD1 | c.1383C>A (p.Ala461=) | |
| X | g.54465811G>A | CA413245047 | FGD1 | c.1382C>T (p.Ala461Val) | gnomAD v4 |
| X | g.54465811G>C | CA413245049 | FGD1 | c.1382C>G (p.Ala461Gly) | |
| X | g.54465811G>T | CA413245048 | FGD1 | c.1382C>A (p.Ala461Asp) |