| X | g.54495148_54495155del | CA2573055370 | FGD1 | c.278_285del (p.Tyr93Ter)
| ClinVar dbSNP |
| X | g.54495149A>C | CA413254432 | FGD1 | c.284T>G (p.Leu95Arg)
| |
| X | g.54495149A>G | CA413254433 | FGD1 | c.284T>C (p.Leu95Pro)
| gnomAD v4 |
| X | g.54495149A>T | CA413254434 | FGD1 | c.284T>A (p.Leu95Gln)
| |
| X | g.54495150G>A | CA516574651 | FGD1 | c.283C>T (p.Leu95=)
| gnomAD v4 |
| X | g.54495150G>C | CA413254435 | FGD1 | c.283C>G (p.Leu95Val)
| |
| X | g.54495150G>T | CA413254436 | FGD1 | c.283C>A (p.Leu95Met)
| gnomAD v4 |
| X | g.54495151G>A | CA516574652 | FGD1 | c.282C>T (p.His94=)
| gnomAD v4 |
| X | g.54495151G>C | CA413254437 | FGD1 | c.282C>G (p.His94Gln)
| gnomAD v4 |
| X | g.54495151G>T | CA413254438 | FGD1 | c.282C>A (p.His94Gln)
| gnomAD v4 |
| X | g.54495152T>A | CA413254440 | FGD1 | c.281A>T (p.His94Leu)
| gnomAD v4 |
| X | g.54495152T>C | CA233986 | FGD1 | c.281A>G (p.His94Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495152T>G | CA413254439 | FGD1 | c.281A>C (p.His94Pro)
| gnomAD v4 |
| X | g.54495152T= | CA2430198354 | FGD1 | c.281A= (p.His94=)
| |
| X | g.54495153G>A | CA413254442 | FGD1 | c.280C>T (p.His94Tyr)
| gnomAD v4 |
| X | g.54495153G>C | CA413254441 | FGD1 | c.280C>G (p.His94Asp)
| gnomAD v4 |
| X | g.54495153G>T | CA413254443 | FGD1 | c.280C>A (p.His94Asn)
| gnomAD v4 |
| X | g.54495154G>A | CA516574653 | FGD1 | c.279C>T (p.Tyr93=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495154G>C | CA413254444 | FGD1 | c.279C>G (p.Tyr93Ter)
| |
| X | g.54495154G= | CA2430198355 | FGD1 | c.279C= (p.Tyr93=)
| |
| X | g.54495154G>T | CA413254445 | FGD1 | c.279C>A (p.Tyr93Ter)
| gnomAD v4 |
| X | g.54495155T>A | CA413254446 | FGD1 | c.278A>T (p.Tyr93Phe)
| |
| X | g.54495155T>C | CA413254447 | FGD1 | c.278A>G (p.Tyr93Cys)
| |
| X | g.54495155T>G | CA413254448 | FGD1 | c.278A>C (p.Tyr93Ser)
| |
| X | g.54495155T= | CA2430198356 | FGD1 | c.278A= (p.Tyr93=)
| |
| X | g.54495156A>C | CA413254449 | FGD1 | c.277T>G (p.Tyr93Asp)
| |
| X | g.54495156A>G | CA413254450 | FGD1 | c.277T>C (p.Tyr93His)
| |
| X | g.54495156A>T | CA413254451 | FGD1 | c.277T>A (p.Tyr93Asn)
| |
| X | g.54495157dup | CA658824578 | FGD1 | c.277dup (p.Tyr93LeufsTer21)
| ClinVar dbSNP |
| X | g.54495157A>C | CA516574654 | FGD1 | c.276T>G (p.Ser92=)
| ClinVar gnomAD v4 |
| X | g.54495157A>G | CA516574655 | FGD1 | c.276T>C (p.Ser92=)
| gnomAD v4 |
| X | g.54495157A>T | CA516574656 | FGD1 | c.276T>A (p.Ser92=)
| |
| X | g.54495158G>A | CA413254452 | FGD1 | c.275C>T (p.Ser92Phe)
| |
| X | g.54495158G>C | CA413254453 | FGD1 | c.275C>G (p.Ser92Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495158G= | CA2430198357 | FGD1 | c.275C= (p.Ser92=)
| |
| X | g.54495158G>T | CA413254454 | FGD1 | c.275C>A (p.Ser92Tyr)
| |
| X | g.54495159A>C | CA413254457 | FGD1 | c.274T>G (p.Ser92Ala)
| |
| X | g.54495159A>G | CA413254455 | FGD1 | c.274T>C (p.Ser92Pro)
| gnomAD v4 |
| X | g.54495159A>T | CA413254456 | FGD1 | c.274T>A (p.Ser92Thr)
| gnomAD v4 |
| X | g.54495160G>A | CA516574657 | FGD1 | c.273C>T (p.Phe91=)
| |
| X | g.54495160G>C | CA413254458 | FGD1 | c.273C>G (p.Phe91Leu)
| |
| X | g.54495160G>T | CA413254459 | FGD1 | c.273C>A (p.Phe91Leu)
| gnomAD v4 |
| X | g.54495161A>C | CA413254460 | FGD1 | c.272T>G (p.Phe91Cys)
| |
| X | g.54495161A>G | CA413254461 | FGD1 | c.272T>C (p.Phe91Ser)
| |
| X | g.54495161A>T | CA413254462 | FGD1 | c.272T>A (p.Phe91Tyr)
| |
| X | g.54495162A>C | CA413254463 | FGD1 | c.271T>G (p.Phe91Val)
| |
| X | g.54495162A>G | CA413254464 | FGD1 | c.271T>C (p.Phe91Leu)
| |
| X | g.54495162A>T | CA413254465 | FGD1 | c.271T>A (p.Phe91Ile)
| |
| X | g.54495163G>A | CA516574658 | FGD1 | c.270C>T (p.Arg90=)
| gnomAD v4 |
| X | g.54495163G>C | CA516574659 | FGD1 | c.270C>G (p.Arg90=)
| |
| X | g.54495163G>T | CA516574660 | FGD1 | c.270C>A (p.Arg90=)
| |
| X | g.54495165_54495166dup | CA2695233909 | FGD1 | c.269_270dup (p.Phe91AlafsTer?)
| |
| X | g.54495164C>A | CA413254466 | FGD1 | c.269G>T (p.Arg90Leu)
| gnomAD v4 |
| X | g.54495164C>G | CA413254467 | FGD1 | c.269G>C (p.Arg90Pro)
| gnomAD v4 |
| X | g.54495164C>T | CA413254468 | FGD1 | c.269G>A (p.Arg90His)
| gnomAD v4 |
| X | g.54495165G>A | CA10425297 | FGD1 | c.268C>T (p.Arg90Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495165G>C | CA413254470 | FGD1 | c.268C>G (p.Arg90Gly)
| gnomAD v4 |
| X | g.54495165G= | CA2430198358 | FGD1 | c.268C= (p.Arg90=)
| |
| X | g.54495165G>T | CA413254469 | FGD1 | c.268C>A (p.Arg90Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495166C>A | CA516574661 | FGD1 | c.267G>T (p.Leu89=)
| gnomAD v4 |
| X | g.54495166C>G | CA516574662 | FGD1 | c.267G>C (p.Leu89=)
| gnomAD v4 |
| X | g.54495166C>T | CA516574663 | FGD1 | c.267G>A (p.Leu89=)
| gnomAD v4 |
| X | g.54495167A>C | CA413254471 | FGD1 | c.266T>G (p.Leu89Arg)
| |
| X | g.54495167A>G | CA413254472 | FGD1 | c.266T>C (p.Leu89Pro)
| gnomAD v4 |
| X | g.54495167A>T | CA413254473 | FGD1 | c.266T>A (p.Leu89Gln)
| gnomAD v4 |
| X | g.54495168G>A | CA516574664 | FGD1 | c.265C>T (p.Leu89=)
| gnomAD v4 |
| X | g.54495168G>C | CA413254474 | FGD1 | c.265C>G (p.Leu89Val)
| |
| X | g.54495168G>T | CA413254475 | FGD1 | c.265C>A (p.Leu89Met)
| gnomAD v4 |
| X | g.54495169G>A | CA516574665 | FGD1 | c.264C>T (p.Ala88=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495169G>C | CA516574666 | FGD1 | c.264C>G (p.Ala88=)
| |
| X | g.54495169G= | CA2430198359 | FGD1 | c.264C= (p.Ala88=)
| |
| X | g.54495169G>T | CA516574667 | FGD1 | c.264C>A (p.Ala88=)
| gnomAD v4 |
| X | g.54495170G>A | CA413254476 | FGD1 | c.263C>T (p.Ala88Val)
| gnomAD v4 |
| X | g.54495170G>C | CA413254477 | FGD1 | c.263C>G (p.Ala88Gly)
| |
| X | g.54495170G>T | CA413254478 | FGD1 | c.263C>A (p.Ala88Asp)
| gnomAD v4 |
| X | g.54495171C>A | CA413254479 | FGD1 | c.262G>T (p.Ala88Ser)
| gnomAD v4 |
| X | g.54495171C>G | CA413254480 | FGD1 | c.262G>C (p.Ala88Pro)
| |
| X | g.54495171C>T | CA413254481 | FGD1 | c.262G>A (p.Ala88Thr)
| gnomAD v4 |
| X | g.54495172C>A | CA516574668 | FGD1 | c.261G>T (p.Arg87=)
| gnomAD v4 |
| X | g.54495172C>G | CA516574670 | FGD1 | c.261G>C (p.Arg87=)
| |
| X | g.54495172C>T | CA516574669 | FGD1 | c.261G>A (p.Arg87=)
| |
| X | g.54495173C>A | CA413254482 | FGD1 | c.260G>T (p.Arg87Leu)
| gnomAD v4 |
| X | g.54495173C= | CA2430198360 | FGD1 | c.260G= (p.Arg87=)
| |
| X | g.54495173C>G | CA328946580 | FGD1 | c.260G>C (p.Arg87Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495173C>T | CA413254483 | FGD1 | c.260G>A (p.Arg87Gln)
| dbSNP gnomAD v4 |
| X | g.54495174G>A | CA413254484 | FGD1 | c.259C>T (p.Arg87Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495174G>C | CA413254485 | FGD1 | c.259C>G (p.Arg87Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495174G= | CA2430198361 | FGD1 | c.259C= (p.Arg87=)
| |
| X | g.54495174G>T | CA516574671 | FGD1 | c.259C>A (p.Arg87=)
| gnomAD v4 |
| X | g.54495175G>A | CA516574672 | FGD1 | c.258C>T (p.His86=)
| gnomAD v4 |
| X | g.54495175G>C | CA413254486 | FGD1 | c.258C>G (p.His86Gln)
| |
| X | g.54495175G>T | CA413254487 | FGD1 | c.258C>A (p.His86Gln)
| gnomAD v4 |
| X | g.54495176T>A | CA413254488 | FGD1 | c.257A>T (p.His86Leu)
| |
| X | g.54495176T>C | CA413254489 | FGD1 | c.257A>G (p.His86Arg)
| gnomAD v4 |
| X | g.54495176T>G | CA413254490 | FGD1 | c.257A>C (p.His86Pro)
| |
| X | g.54495177G>A | CA413254491 | FGD1 | c.256C>T (p.His86Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495177G>C | CA413254492 | FGD1 | c.256C>G (p.His86Asp)
| gnomAD v4 |
| X | g.54495177G= | CA2430198362 | FGD1 | c.256C= (p.His86=)
| |
| X | g.54495177G>T | CA413254493 | FGD1 | c.256C>A (p.His86Asn)
| gnomAD v4 |
| X | g.54495178G>A | CA516574673 | FGD1 | c.255C>T (p.His85=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495178G>C | CA413254494 | FGD1 | c.255C>G (p.His85Gln)
| |
| X | g.54495178G= | CA2430198363 | FGD1 | c.255C= (p.His85=)
| |
| X | g.54495178G>T | CA413254495 | FGD1 | c.255C>A (p.His85Gln)
| gnomAD v4 |
| X | g.54495179T>A | CA413254496 | FGD1 | c.254A>T (p.His85Leu)
| gnomAD v4 |
| X | g.54495179T>C | CA413254497 | FGD1 | c.254A>G (p.His85Arg)
| |
| X | g.54495179T>G | CA413254498 | FGD1 | c.254A>C (p.His85Pro)
| |
| X | g.54495180G>A | CA413254500 | FGD1 | c.253C>T (p.His85Tyr)
| gnomAD v4 |
| X | g.54495180G>C | CA413254501 | FGD1 | c.253C>G (p.His85Asp)
| |
| X | g.54495180G>T | CA413254499 | FGD1 | c.253C>A (p.His85Asn)
| gnomAD v4 |
| X | g.54495181C>A | CA413254503 | FGD1 | c.252G>T (p.Gln84His)
| |
| X | g.54495181C= | CA2430198364 | FGD1 | c.252G= (p.Gln84=)
| |
| X | g.54495181C>G | CA413254502 | FGD1 | c.252G>C (p.Gln84His)
| |
| X | g.54495181C>T | CA516574674 | FGD1 | c.252G>A (p.Gln84=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495182T>A | CA413254504 | FGD1 | c.251A>T (p.Gln84Leu)
| |
| X | g.54495182T>C | CA10425298 | FGD1 | c.251A>G (p.Gln84Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495182T>G | CA413254505 | FGD1 | c.251A>C (p.Gln84Pro)
| |
| X | g.54495182T= | CA2430198365 | FGD1 | c.251A= (p.Gln84=)
| |
| X | g.54495183G>A | CA413254506 | FGD1 | c.250C>T (p.Gln84Ter)
| gnomAD v4 |
| X | g.54495183G>C | CA413254507 | FGD1 | c.250C>G (p.Gln84Glu)
| ClinVar |
| X | g.54495183G>T | CA413254508 | FGD1 | c.250C>A (p.Gln84Lys)
| gnomAD v4 |
| X | g.54495184T>A | CA516574675 | FGD1 | c.249A>T (p.Pro83=)
| |
| X | g.54495184T>C | CA516574676 | FGD1 | c.249A>G (p.Pro83=)
| |
| X | g.54495184T>G | CA516574677 | FGD1 | c.249A>C (p.Pro83=)
| |
| X | g.54495185G>A | CA413254509 | FGD1 | c.248C>T (p.Pro83Leu)
| gnomAD v4 |
| X | g.54495185G>C | CA413254510 | FGD1 | c.248C>G (p.Pro83Arg)
| |
| X | g.54495185G>T | CA413254511 | FGD1 | c.248C>A (p.Pro83Gln)
| gnomAD v4 |
| X | g.54495186G>A | CA413254512 | FGD1 | c.247C>T (p.Pro83Ser)
| |
| X | g.54495186G>C | CA413254513 | FGD1 | c.247C>G (p.Pro83Ala)
| |
| X | g.54495186G>T | CA413254514 | FGD1 | c.247C>A (p.Pro83Thr)
| gnomAD v4 |
| X | g.54495187A>C | CA413254515 | FGD1 | c.246T>G (p.Ser82Arg)
| |
| X | g.54495187A>G | CA516574678 | FGD1 | c.246T>C (p.Ser82=)
| |
| X | g.54495187A>T | CA413254516 | FGD1 | c.246T>A (p.Ser82Arg)
| |
| X | g.54495188C>A | CA413254517 | FGD1 | c.245G>T (p.Ser82Ile)
| gnomAD v4 |
| X | g.54495188C= | CA2430198366 | FGD1 | c.245G= (p.Ser82=)
| |
| X | g.54495188C>G | CA413254518 | FGD1 | c.245G>C (p.Ser82Thr)
| |
| X | g.54495188C>T | CA328946584 | FGD1 | c.245G>A (p.Ser82Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495189T>A | CA413254519 | FGD1 | c.244A>T (p.Ser82Cys)
| gnomAD v4 |
| X | g.54495189T>C | CA413254520 | FGD1 | c.244A>G (p.Ser82Gly)
| gnomAD v4 |
| X | g.54495189T>G | CA413254521 | FGD1 | c.244A>C (p.Ser82Arg)
| |
| X | g.54495190G>A | CA516574679 | FGD1 | c.243C>T (p.Pro81=)
| gnomAD v4 |
| X | g.54495190G>C | CA516574680 | FGD1 | c.243C>G (p.Pro81=)
| |
| X | g.54495190G>T | CA516574681 | FGD1 | c.243C>A (p.Pro81=)
| gnomAD v4 |
| X | g.54495191G>A | CA413254522 | FGD1 | c.242C>T (p.Pro81Leu)
| gnomAD v4 |
| X | g.54495191G>C | CA413254523 | FGD1 | c.242C>G (p.Pro81Arg)
| |
| X | g.54495191G>T | CA413254524 | FGD1 | c.242C>A (p.Pro81His)
| |
| X | g.54495192G>A | CA413254525 | FGD1 | c.241C>T (p.Pro81Ser)
| dbSNP gnomAD v2 |
| X | g.54495192G>C | CA413254526 | FGD1 | c.241C>G (p.Pro81Ala)
| |
| X | g.54495192G= | CA2430198367 | FGD1 | c.241C= (p.Pro81=)
| |
| X | g.54495192G>T | CA413254527 | FGD1 | c.241C>A (p.Pro81Thr)
| gnomAD v4 |
| X | g.54495193_54495231del | CA2693846355 | FGD1 | c.203_241del (p.Leu68_Gly80del)
| gnomAD v4 |
| X | g.54495193A>C | CA516574682 | FGD1 | c.240T>G (p.Gly80=)
| |
| X | g.54495193A>G | CA516574683 | FGD1 | c.240T>C (p.Gly80=)
| |
| X | g.54495193A>T | CA516574684 | FGD1 | c.240T>A (p.Gly80=)
| gnomAD v4 |
| X | g.54495194C>A | CA413254529 | FGD1 | c.239G>T (p.Gly80Val)
| gnomAD v4 |
| X | g.54495194C= | CA2430198368 | FGD1 | c.239G= (p.Gly80=)
| |
| X | g.54495194C>G | CA413254531 | FGD1 | c.239G>C (p.Gly80Ala)
| |
| X | g.54495194C>T | CA413254528 | FGD1 | c.239G>A (p.Gly80Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495195C>A | CA413254533 | FGD1 | c.238G>T (p.Gly80Cys)
| gnomAD v4 |
| X | g.54495195C= | CA2430198369 | FGD1 | c.238G= (p.Gly80=)
| |
| X | g.54495195C>G | CA413254535 | FGD1 | c.238G>C (p.Gly80Arg)
| |
| X | g.54495195C>T | CA10425299 | FGD1 | c.238G>A (p.Gly80Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495196G>A | CA516574685 | FGD1 | c.237C>T (p.Cys79=)
| gnomAD v4 COSMIC |
| X | g.54495196G>C | CA413254537 | FGD1 | c.237C>G (p.Cys79Trp)
| |
| X | g.54495196G>T | CA413254538 | FGD1 | c.237C>A (p.Cys79Ter)
| gnomAD v4 |
| X | g.54495197C>A | CA413254543 | FGD1 | c.236G>T (p.Cys79Phe)
| gnomAD v4 |
| X | g.54495197C>G | CA413254542 | FGD1 | c.236G>C (p.Cys79Ser)
| |
| X | g.54495197C>T | CA413254540 | FGD1 | c.236G>A (p.Cys79Tyr)
| |
| X | g.54495198A>C | CA413254545 | FGD1 | c.235T>G (p.Cys79Gly)
| |
| X | g.54495198A>G | CA413254547 | FGD1 | c.235T>C (p.Cys79Arg)
| gnomAD v4 |
| X | g.54495198A>T | CA413254548 | FGD1 | c.235T>A (p.Cys79Ser)
| gnomAD v4 |
| X | g.54495199G>A | CA10425300 | FGD1 | c.234C>T (p.Pro78=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495199G>C | CA516574686 | FGD1 | c.234C>G (p.Pro78=)
| |
| X | g.54495199G= | CA2430198370 | FGD1 | c.234C= (p.Pro78=)
| |
| X | g.54495199G>T | CA516574687 | FGD1 | c.234C>A (p.Pro78=)
| gnomAD v4 |
| X | g.54495200G>A | CA413254551 | FGD1 | c.233C>T (p.Pro78Leu)
| gnomAD v4 |
| X | g.54495200G>C | CA413254552 | FGD1 | c.233C>G (p.Pro78Arg)
| |
| X | g.54495200G>T | CA413254554 | FGD1 | c.233C>A (p.Pro78His)
| gnomAD v4 |
| X | g.54495201G>A | CA10425301 | FGD1 | c.232C>T (p.Pro78Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495201G>C | CA413254557 | FGD1 | c.232C>G (p.Pro78Ala)
| |
| X | g.54495201G= | CA2430198371 | FGD1 | c.232C= (p.Pro78=)
| |
| X | g.54495201G>T | CA413254556 | FGD1 | c.232C>A (p.Pro78Thr)
| |
| X | g.54495202C>A | CA413254560 | FGD1 | c.231G>T (p.Leu77Phe)
| gnomAD v4 |
| X | g.54495202C>G | CA413254561 | FGD1 | c.231G>C (p.Leu77Phe)
| |
| X | g.54495202C>T | CA516574688 | FGD1 | c.231G>A (p.Leu77=)
| gnomAD v4 |
| X | g.54495203A>C | CA413254563 | FGD1 | c.230T>G (p.Leu77Trp)
| |
| X | g.54495203A>G | CA413254564 | FGD1 | c.230T>C (p.Leu77Ser)
| gnomAD v4 |
| X | g.54495203A>T | CA413254566 | FGD1 | c.230T>A (p.Leu77Ter)
| |
| X | g.54495204A= | CA2430198372 | FGD1 | c.229T= (p.Leu77=)
| |
| X | g.54495204A>C | CA10425302 | FGD1 | c.229T>G (p.Leu77Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495204A>G | CA516574689 | FGD1 | c.229T>C (p.Leu77=)
| gnomAD v4 |
| X | g.54495204A>T | CA413254568 | FGD1 | c.229T>A (p.Leu77Met)
| |
| X | g.54495205G>A | CA516574690 | FGD1 | c.228C>T (p.Val76=)
| gnomAD v4 |
| X | g.54495205G>C | CA516574691 | FGD1 | c.228C>G (p.Val76=)
| gnomAD v4 |
| X | g.54495205G>T | CA516574692 | FGD1 | c.228C>A (p.Val76=)
| gnomAD v4 |
| X | g.54495206A= | CA2430198373 | FGD1 | c.227T= (p.Val76=)
| |
| X | g.54495206A>C | CA413254570 | FGD1 | c.227T>G (p.Val76Gly)
| |
| X | g.54495206A>G | CA413254571 | FGD1 | c.227T>C (p.Val76Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495206A>T | CA413254572 | FGD1 | c.227T>A (p.Val76Asp)
| |
| X | g.54495207C>A | CA413254574 | FGD1 | c.226G>T (p.Val76Phe)
| gnomAD v4 |
| X | g.54495207C= | CA2430198374 | FGD1 | c.226G= (p.Val76=)
| |
| X | g.54495207C>G | CA413254576 | FGD1 | c.226G>C (p.Val76Leu)
| gnomAD v4 |
| X | g.54495207C>T | CA413254578 | FGD1 | c.226G>A (p.Val76Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495208C>A | CA516574693 | FGD1 | c.225G>T (p.Arg75=)
| gnomAD v4 |
| X | g.54495208C>G | CA516574694 | FGD1 | c.225G>C (p.Arg75=)
| |
| X | g.54495208C>T | CA516574695 | FGD1 | c.225G>A (p.Arg75=)
| gnomAD v4 |
| X | g.54495209C>A | CA328946598 | FGD1 | c.224G>T (p.Arg75Leu)
| dbSNP gnomAD v4 |
| X | g.54495209C= | CA2430198375 | FGD1 | c.224G= (p.Arg75=)
| |
| X | g.54495209C>G | CA413254582 | FGD1 | c.224G>C (p.Arg75Pro)
| |
| X | g.54495209C>T | CA413254579 | FGD1 | c.224G>A (p.Arg75Gln)
| |
| X | g.54495210G>A | CA413254585 | FGD1 | c.223C>T (p.Arg75Trp)
| gnomAD v4 |
| X | g.54495210G>C | CA413254584 | FGD1 | c.223C>G (p.Arg75Gly)
| dbSNP gnomAD v2 |
| X | g.54495210G= | CA2430198376 | FGD1 | c.223C= (p.Arg75=)
| |
| X | g.54495210G>T | CA516574696 | FGD1 | c.223C>A (p.Arg75=)
| gnomAD v4 |
| X | g.54495211G>A | CA516574697 | FGD1 | c.222C>T (p.His74=)
| gnomAD v4 |
| X | g.54495211G>C | CA413254587 | FGD1 | c.222C>G (p.His74Gln)
| gnomAD v4 |
| X | g.54495211G= | CA2430198377 | FGD1 | c.222C= (p.His74=)
| |
| X | g.54495211G>T | CA413254589 | FGD1 | c.222C>A (p.His74Gln)
| ClinVar dbSNP gnomAD v2 |
| X | g.54495212del | CA2559531168 | FGD1 | c.221del (p.His74ProfsTer?)
| |
| X | g.54495212T>A | CA328946603 | FGD1 | c.221A>T (p.His74Leu)
| dbSNP |
| X | g.54495212T>C | CA413254591 | FGD1 | c.221A>G (p.His74Arg)
| dbSNP |
| X | g.54495212T>G | CA413254592 | FGD1 | c.221A>C (p.His74Pro)
| |
| X | g.54495212T= | CA2430198378 | FGD1 | c.221A= (p.His74=)
| |
| X | g.54495213G>A | CA413254598 | FGD1 | c.220C>T (p.His74Tyr)
| |
| X | g.54495213G>C | CA413254596 | FGD1 | c.220C>G (p.His74Asp)
| |
| X | g.54495213G>T | CA413254595 | FGD1 | c.220C>A (p.His74Asn)
| gnomAD v4 |
| X | g.54495214G>A | CA516574698 | FGD1 | c.219C>T (p.Gly73=)
| gnomAD v4 |
| X | g.54495214G>C | CA516574700 | FGD1 | c.219C>G (p.Gly73=)
| |
| X | g.54495214G>T | CA516574699 | FGD1 | c.219C>A (p.Gly73=)
| gnomAD v4 |
| X | g.54495215C>A | CA413254599 | FGD1 | c.218G>T (p.Gly73Val)
| |
| X | g.54495215C= | CA2430198379 | FGD1 | c.218G= (p.Gly73=)
| |
| X | g.54495215C>G | CA413254600 | FGD1 | c.218G>C (p.Gly73Ala)
| |
| X | g.54495215C>T | CA413254602 | FGD1 | c.218G>A (p.Gly73Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495216C>A | CA413254604 | FGD1 | c.217G>T (p.Gly73Cys)
| gnomAD v4 |
| X | g.54495216C>G | CA413254606 | FGD1 | c.217G>C (p.Gly73Arg)
| |
| X | g.54495216C>T | CA413254607 | FGD1 | c.217G>A (p.Gly73Ser)
| |
| X | g.54495217T>A | CA516574701 | FGD1 | c.216A>T (p.Pro72=)
| gnomAD v4 |
| X | g.54495217T>C | CA516574702 | FGD1 | c.216A>G (p.Pro72=)
| gnomAD v4 |
| X | g.54495217T>G | CA516574703 | FGD1 | c.216A>C (p.Pro72=)
| |
| X | g.54495218G>A | CA413254609 | FGD1 | c.215C>T (p.Pro72Leu)
| gnomAD v4 |
| X | g.54495218G>C | CA413254613 | FGD1 | c.215C>G (p.Pro72Arg)
| |
| X | g.54495218G>T | CA413254611 | FGD1 | c.215C>A (p.Pro72Gln)
| |
| X | g.54495219del | CA2693846356 | FGD1 | c.215del (p.Pro72GlnfsTer?)
| gnomAD v4 |
| X | g.54495219G>A | CA413254614 | FGD1 | c.214C>T (p.Pro72Ser)
| |
| X | g.54495219G>C | CA413254616 | FGD1 | c.214C>G (p.Pro72Ala)
| |
| X | g.54495219G>T | CA413254618 | FGD1 | c.214C>A (p.Pro72Thr)
| gnomAD v4 |
| X | g.54495220A>C | CA516574704 | FGD1 | c.213T>G (p.Ala71=)
| |
| X | g.54495220A>G | CA516574706 | FGD1 | c.213T>C (p.Ala71=)
| gnomAD v4 |
| X | g.54495220A>T | CA516574705 | FGD1 | c.213T>A (p.Ala71=)
| gnomAD v4 |
| X | g.54495221G>A | CA413254620 | FGD1 | c.212C>T (p.Ala71Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495221G>C | CA413254621 | FGD1 | c.212C>G (p.Ala71Gly)
| |
| X | g.54495221G= | CA2430198380 | FGD1 | c.212C= (p.Ala71=)
| |
| X | g.54495221G>T | CA413254623 | FGD1 | c.212C>A (p.Ala71Asp)
| gnomAD v4 |
| X | g.54495222C>A | CA413254625 | FGD1 | c.211G>T (p.Ala71Ser)
| |
| X | g.54495222C= | CA2430198381 | FGD1 | c.211G= (p.Ala71=)
| |
| X | g.54495222C>G | CA413254627 | FGD1 | c.211G>C (p.Ala71Pro)
| |
| X | g.54495222C>T | CA10425303 | FGD1 | c.211G>A (p.Ala71Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495223A>C | CA516574707 | FGD1 | c.210T>G (p.Ala70=)
| |
| X | g.54495223A>G | CA516574708 | FGD1 | c.210T>C (p.Ala70=)
| gnomAD v4 |
| X | g.54495223A>T | CA516574709 | FGD1 | c.210T>A (p.Ala70=)
| |
| X | g.54495224G>A | CA413254628 | FGD1 | c.209C>T (p.Ala70Val)
| gnomAD v4 |
| X | g.54495224G>C | CA413254629 | FGD1 | c.209C>G (p.Ala70Gly)
| |
| X | g.54495224G>T | CA413254631 | FGD1 | c.209C>A (p.Ala70Asp)
| gnomAD v4 |
| X | g.54495225C>A | CA413254636 | FGD1 | c.208G>T (p.Ala70Ser)
| gnomAD v4 |
| X | g.54495225C= | CA2430198382 | FGD1 | c.208G= (p.Ala70=)
| |
| X | g.54495225C>G | CA413254633 | FGD1 | c.208G>C (p.Ala70Pro)
| dbSNP gnomAD v2 |
| X | g.54495225C>T | CA413254635 | FGD1 | c.208G>A (p.Ala70Thr)
| gnomAD v4 COSMIC |
| X | g.54495226G>A | CA10606018 | FGD1 | c.207C>T (p.Gly69=)
| ClinVar dbSNP |
| X | g.54495226G>C | CA516574710 | FGD1 | c.207C>G (p.Gly69=)
| |
| X | g.54495226G= | CA2430198383 | FGD1 | c.207C= (p.Gly69=)
| |
| X | g.54495226G>T | CA516574711 | FGD1 | c.207C>A (p.Gly69=)
| gnomAD v4 |
| X | g.54495227C>A | CA413254639 | FGD1 | c.206G>T (p.Gly69Val)
| gnomAD v4 |
| X | g.54495227C>G | CA413254640 | FGD1 | c.206G>C (p.Gly69Ala)
| |
| X | g.54495227C>T | CA413254642 | FGD1 | c.206G>A (p.Gly69Asp)
| |
| X | g.54495228C>A | CA413254643 | FGD1 | c.205G>T (p.Gly69Cys)
| gnomAD v4 |
| X | g.54495228C= | CA2430198384 | FGD1 | c.205G= (p.Gly69=)
| |
| X | g.54495228C>G | CA413254645 | FGD1 | c.205G>C (p.Gly69Arg)
| |
| X | g.54495228C>T | CA413254647 | FGD1 | c.205G>A (p.Gly69Ser)
| dbSNP gnomAD v4 |
| X | g.54495229C>A | CA516574714 | FGD1 | c.204G>T (p.Leu68=)
| gnomAD v4 |
| X | g.54495229C>G | CA516574712 | FGD1 | c.204G>C (p.Leu68=)
| |
| X | g.54495229C>T | CA516574713 | FGD1 | c.204G>A (p.Leu68=)
| |
| X | g.54495230A>C | CA413254649 | FGD1 | c.203T>G (p.Leu68Arg)
| gnomAD v4 |
| X | g.54495230A>G | CA413254651 | FGD1 | c.203T>C (p.Leu68Pro)
| gnomAD v4 |
| X | g.54495230A>T | CA413254650 | FGD1 | c.203T>A (p.Leu68Gln)
| |
| X | g.54495231G>A | CA516574715 | FGD1 | c.202C>T (p.Leu68=)
| |
| X | g.54495231G>C | CA413254654 | FGD1 | c.202C>G (p.Leu68Val)
| gnomAD v4 |
| X | g.54495231G>T | CA413254655 | FGD1 | c.202C>A (p.Leu68Met)
| gnomAD v4 |
| X | g.54495232G>A | CA516574716 | FGD1 | c.201C>T (p.Ser67=)
| gnomAD v4 |
| X | g.54495232G>C | CA413254657 | FGD1 | c.201C>G (p.Ser67Arg)
| |
| X | g.54495232G= | CA2430198385 | FGD1 | c.201C= (p.Ser67=)
| |
| X | g.54495232G>T | CA10425304 | FGD1 | c.201C>A (p.Ser67Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495233C>A | CA413254662 | FGD1 | c.200G>T (p.Ser67Ile)
| |
| X | g.54495233C= | CA2430198386 | FGD1 | c.200G= (p.Ser67=)
| |
| X | g.54495233C>G | CA413254660 | FGD1 | c.200G>C (p.Ser67Thr)
| |
| X | g.54495233C>T | CA10425305 | FGD1 | c.200G>A (p.Ser67Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495234T>A | CA413254663 | FGD1 | c.199A>T (p.Ser67Cys)
| |
| X | g.54495234T>C | CA413254665 | FGD1 | c.199A>G (p.Ser67Gly)
| gnomAD v4 COSMIC |
| X | g.54495234T>G | CA413254667 | FGD1 | c.199A>C (p.Ser67Arg)
| |
| X | g.54495235G>A | CA516574717 | FGD1 | c.198C>T (p.Thr66=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495235G>C | CA516574718 | FGD1 | c.198C>G (p.Thr66=)
| |
| X | g.54495235G= | CA2430198387 | FGD1 | c.198C= (p.Thr66=)
| |
| X | g.54495235G>T | CA10425306 | FGD1 | c.198C>A (p.Thr66=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495236G>A | CA413254669 | FGD1 | c.197C>T (p.Thr66Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495236G>C | CA413254671 | FGD1 | c.197C>G (p.Thr66Ser)
| gnomAD v4 |
| X | g.54495236G= | CA2430198388 | FGD1 | c.197C= (p.Thr66=)
| |
| X | g.54495236G>T | CA413254673 | FGD1 | c.197C>A (p.Thr66Asn)
| gnomAD v4 |
| X | g.54495237T>A | CA413254675 | FGD1 | c.196A>T (p.Thr66Ser)
| gnomAD v4 |
| X | g.54495237T>C | CA413254676 | FGD1 | c.196A>G (p.Thr66Ala)
| |
| X | g.54495237T>G | CA413254677 | FGD1 | c.196A>C (p.Thr66Pro)
| |
| X | g.54495238G>A | CA516574719 | FGD1 | c.195C>T (p.Asp65=)
| gnomAD v4 |
| X | g.54495238G>C | CA413254679 | FGD1 | c.195C>G (p.Asp65Glu)
| |
| X | g.54495238G>T | CA413254681 | FGD1 | c.195C>A (p.Asp65Glu)
| gnomAD v4 |
| X | g.54495239T>A | CA413254686 | FGD1 | c.194A>T (p.Asp65Val)
| |
| X | g.54495239T>C | CA413254683 | FGD1 | c.194A>G (p.Asp65Gly)
| |
| X | g.54495239T>G | CA413254684 | FGD1 | c.194A>C (p.Asp65Ala)
| |
| X | g.54495240C>A | CA413254688 | FGD1 | c.193G>T (p.Asp65Tyr)
| gnomAD v4 |
| X | g.54495240C>G | CA413254691 | FGD1 | c.193G>C (p.Asp65His)
| |
| X | g.54495240C>T | CA413254690 | FGD1 | c.193G>A (p.Asp65Asn)
| gnomAD v4 |
| X | g.54495241C>A | CA516574720 | FGD1 | c.192G>T (p.Ser64=)
| gnomAD v4 |
| X | g.54495241C= | CA2430198389 | FGD1 | c.192G= (p.Ser64=)
| |
| X | g.54495241C>G | CA516574721 | FGD1 | c.192G>C (p.Ser64=)
| |
| X | g.54495241C>T | CA10425307 | FGD1 | c.192G>A (p.Ser64=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495242G>A | CA413254694 | FGD1 | c.191C>T (p.Ser64Leu)
| gnomAD v4 COSMIC |
| X | g.54495242G>C | CA413254696 | FGD1 | c.191C>G (p.Ser64Trp)
| gnomAD v4 |
| X | g.54495242G>T | CA413254697 | FGD1 | c.191C>A (p.Ser64Ter)
| gnomAD v4 |
| X | g.54495243A>C | CA413254700 | FGD1 | c.190T>G (p.Ser64Ala)
| |
| X | g.54495243A>G | CA413254701 | FGD1 | c.190T>C (p.Ser64Pro)
| gnomAD v4 |
| X | g.54495243A>T | CA413254703 | FGD1 | c.190T>A (p.Ser64Thr)
| |
| X | g.54495244G>A | CA516574722 | FGD1 | c.189C>T (p.Pro63=)
| gnomAD v4 |
| X | g.54495244G>C | CA516574723 | FGD1 | c.189C>G (p.Pro63=)
| |
| X | g.54495244G>T | CA516574724 | FGD1 | c.189C>A (p.Pro63=)
| gnomAD v4 |
| X | g.54495245G>A | CA413254704 | FGD1 | c.188C>T (p.Pro63Leu)
| |
| X | g.54495245G>C | CA413254706 | FGD1 | c.188C>G (p.Pro63Arg)
| |
| X | g.54495245G>T | CA413254708 | FGD1 | c.188C>A (p.Pro63His)
| gnomAD v4 |
| X | g.54495246G>A | CA413254710 | FGD1 | c.187C>T (p.Pro63Ser)
| |
| X | g.54495246G>C | CA413254711 | FGD1 | c.187C>G (p.Pro63Ala)
| |
| X | g.54495246G>T | CA413254713 | FGD1 | c.187C>A (p.Pro63Thr)
| |
| X | g.54495247T>A | CA516574725 | FGD1 | c.186A>T (p.Gly62=)
| |
| X | g.54495247T>C | CA10425308 | FGD1 | c.186A>G (p.Gly62=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495247T>G | CA516574726 | FGD1 | c.186A>C (p.Gly62=)
| |
| X | g.54495247T= | CA2430198390 | FGD1 | c.186A= (p.Gly62=)
| |
| X | g.54495248C>A | CA413254715 | FGD1 | c.185G>T (p.Gly62Val)
| gnomAD v4 |
| X | g.54495248C>G | CA413254716 | FGD1 | c.185G>C (p.Gly62Ala)
| gnomAD v4 |
| X | g.54495248C>T | CA413254717 | FGD1 | c.185G>A (p.Gly62Glu)
| gnomAD v4 |
| X | g.54495249C>A | CA413254718 | FGD1 | c.184G>T (p.Gly62Ter)
| gnomAD v4 |
| X | g.54495249C= | CA2430198391 | FGD1 | c.184G= (p.Gly62=)
| |
| X | g.54495249C>G | CA413254720 | FGD1 | c.184G>C (p.Gly62Arg)
| |
| X | g.54495249C>T | CA328946667 | FGD1 | c.184G>A (p.Gly62Arg)
| dbSNP gnomAD v4 |
