| X | g.54495076_54495102dup | CA2693846283 | FGD1 | c.307+31_307+57dup (n.307+31_307+57dup)
| gnomAD v4 |
| X | g.54495102A>G | CA2579621930 | FGD1 | c.307+24T>C (n.307+24T>C)
| gnomAD v4 |
| X | g.54495102A>T | CA2693846325 | FGD1 | c.307+24T>A (n.307+24T>A)
| gnomAD v4 |
| X | g.54495103T>A | CA2693846326 | FGD1 | c.307+23A>T (n.307+23A>T)
| gnomAD v4 |
| X | g.54495103T>C | CA2693846327 | FGD1 | c.307+23A>G (n.307+23A>G)
| gnomAD v4 |
| X | g.54495104G>A | CA641367053 | FGD1 | c.307+22C>T (n.307+22C>T)
| dbSNP gnomAD v2 |
| X | g.54495104G>C | CA2693846328 | FGD1 | c.307+22C>G (n.307+22C>G)
| gnomAD v4 |
| X | g.54495104G= | CA2430198340 | FGD1 | c.307+22C= (n.307+22C=)
| |
| X | g.54495104G>T | CA2693846329 | FGD1 | c.307+22C>A (n.307+22C>A)
| gnomAD v4 |
| X | g.54495104_54495106delinsGCT | CA2430198341 | FGD1 | c.307+20_307+22delinsAGC (n.307+20_307+22delinsAGC)
| |
| X | g.54495105C>A | CA2693846330 | FGD1 | c.307+21G>T (n.307+21G>T)
| gnomAD v4 |
| X | g.54495105C>T | CA2693846331 | FGD1 | c.307+21G>A (n.307+21G>A)
| gnomAD v4 |
| X | g.54495110_54495111del | CA2430198342 | FGD1 | c.307+20_307+21del (n.307+20_307+21del)
| dbSNP gnomAD v4 |
| X | g.54495106T>C | CA2693846332 | FGD1 | c.307+20A>G (n.307+20A>G)
| gnomAD v4 |
| X | g.54495107C>A | CA2693846333 | FGD1 | c.307+19G>T (n.307+19G>T)
| gnomAD v4 |
| X | g.54495107C= | CA2430198343 | FGD1 | c.307+19G= (n.307+19G=)
| |
| X | g.54495107C>G | CA328946519 | FGD1 | c.307+19G>C (n.307+19G>C)
| dbSNP gnomAD v4 |
| X | g.54495108T>C | CA2693846334 | FGD1 | c.307+18A>G (n.307+18A>G)
| gnomAD v4 |
| X | g.54495109C>A | CA2693846335 | FGD1 | c.307+17G>T (n.307+17G>T)
| gnomAD v4 |
| X | g.54495109C= | CA2430198344 | FGD1 | c.307+17G= (n.307+17G=)
| |
| X | g.54495109C>T | CA328946533 | FGD1 | c.307+17G>A (n.307+17G>A)
| dbSNP gnomAD v4 |
| X | g.54495110T>A | CA2693846336 | FGD1 | c.307+16A>T (n.307+16A>T)
| gnomAD v4 |
| X | g.54495112_54495115del | CA2533411080 | FGD1 | c.307+13_307+16del (n.307+13_307+16del)
| |
| X | g.54495111C>A | CA2530118163 | FGD1 | c.307+15G>T (n.307+15G>T)
| gnomAD v4 |
| X | g.54495111C>G | CA2693846337 | FGD1 | c.307+15G>C (n.307+15G>C)
| gnomAD v4 |
| X | g.54495112A>G | CA2536813820 | FGD1 | c.307+14T>C (n.307+14T>C)
| gnomAD v4 |
| X | g.54495112A>T | CA2693846339 | FGD1 | c.307+14T>A (n.307+14T>A)
| gnomAD v4 |
| X | g.54495112dup | CA2693846338 | FGD1 | c.307+14dup (n.307+14dup)
| gnomAD v4 |
| X | g.54495112_54495116delinsAGTCG | CA2430198345 | FGD1 | c.307+10_307+14delinsCGACT (n.307+10_307+14delinsCGACT)
| |
| X | g.54495113G>T | CA2693846340 | FGD1 | c.307+13C>A (n.307+13C>A)
| gnomAD v4 |
| X | g.54495113_54495116del | CA2430198346 | FGD1 | c.307+10_307+13del (n.307+10_307+13del)
| dbSNP |
| X | g.54495115C>A | CA2693846341 | FGD1 | c.307+11G>T (n.307+11G>T)
| gnomAD v4 |
| X | g.54495115C>T | CA2693846342 | FGD1 | c.307+11G>A (n.307+11G>A)
| gnomAD v4 |
| X | g.54495116G>A | CA2693846343 | FGD1 | c.307+10C>T (n.307+10C>T)
| gnomAD v4 |
| X | g.54495116G>C | CA641367054 | FGD1 | c.307+10C>G (n.307+10C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.54495116G= | CA2430198347 | FGD1 | c.307+10C= (n.307+10C=)
| |
| X | g.54495116G>T | CA2693846344 | FGD1 | c.307+10C>A (n.307+10C>A)
| gnomAD v4 |
| X | g.54495117C>A | CA2552592281 | FGD1 | c.307+9G>T (n.307+9G>T)
| gnomAD v4 |
| X | g.54495117C>T | CA2693846345 | FGD1 | c.307+9G>A (n.307+9G>A)
| gnomAD v4 |
| X | g.54495118T>C | CA2693846346 | FGD1 | c.307+8A>G (n.307+8A>G)
| gnomAD v4 |
| X | g.54495119C>A | CA2693846347 | FGD1 | c.307+7G>T (n.307+7G>T)
| gnomAD v4 |
| X | g.54495119C>T | CA2693846348 | FGD1 | c.307+7G>A (n.307+7G>A)
| gnomAD v4 |
| X | g.54495120A>G | CA2693846350 | FGD1 | c.307+6T>C (n.307+6T>C)
| gnomAD v4 |
| X | g.54495120A>T | CA2693846349 | FGD1 | c.307+6T>A (n.307+6T>A)
| gnomAD v4 |
| X | g.54495121C>A | CA2693846351 | FGD1 | c.307+5G>T (n.307+5G>T)
| gnomAD v4 |
| X | g.54495121C>T | CA2693846352 | FGD1 | c.307+5G>A (n.307+5G>A)
| gnomAD v4 |
| X | g.54495123del | CA2579621931 | FGD1 | c.307+3del (n.307+3del)
| |
| X | g.54495123C>A | CA2693846353 | FGD1 | c.307+3G>T (n.307+3G>T)
| gnomAD v4 |
| X | g.54495123C>T | CA2693846354 | FGD1 | c.307+3G>A (n.307+3G>A)
| gnomAD v4 |
| X | g.54495124A>C | CA413254355 | FGD1 | c.307+2T>G (n.307+2T>G)
| |
| X | g.54495124A>G | CA413254359 | FGD1 | c.307+2T>C (n.307+2T>C)
| gnomAD v4 |
| X | g.54495124A>T | CA413254357 | FGD1 | c.307+2T>A (n.307+2T>A)
| |
| X | g.54495125C>A | CA413254360 | FGD1 | c.307+1G>T (n.307+1G>T)
| gnomAD v4 |
| X | g.54495125C>G | CA413254364 | FGD1 | c.307+1G>C (n.307+1G>C)
| |
| X | g.54495125C>T | CA413254362 | FGD1 | c.307+1G>A (n.307+1G>A)
| dbSNP |
| X | g.54495126C>A | CA413254366 | FGD1 | c.307G>T (p.Gly103Trp)
| gnomAD v4 |
| X | g.54495126C>G | CA413254367 | FGD1 | c.307G>C (p.Gly103Arg)
| |
| X | g.54495126C>T | CA413254368 | FGD1 | c.307G>A (p.Gly103Arg)
| gnomAD v4 |
| X | g.54495127A>C | CA516574630 | FGD1 | c.306T>G (p.Pro102=)
| |
| X | g.54495127A>G | CA516574631 | FGD1 | c.306T>C (p.Pro102=)
| gnomAD v4 |
| X | g.54495127A>T | CA516574632 | FGD1 | c.306T>A (p.Pro102=)
| gnomAD v4 |
| X | g.54495128G>A | CA413254370 | FGD1 | c.305C>T (p.Pro102Leu)
| gnomAD v4 |
| X | g.54495128G>C | CA413254372 | FGD1 | c.305C>G (p.Pro102Arg)
| |
| X | g.54495128G>T | CA413254374 | FGD1 | c.305C>A (p.Pro102His)
| gnomAD v4 |
| X | g.54495129G>A | CA413254375 | FGD1 | c.304C>T (p.Pro102Ser)
| gnomAD v4 |
| X | g.54495129G>C | CA413254377 | FGD1 | c.304C>G (p.Pro102Ala)
| |
| X | g.54495129G>T | CA413254378 | FGD1 | c.304C>A (p.Pro102Thr)
| gnomAD v4 |
| X | g.54495130C>A | CA516574633 | FGD1 | c.303G>T (p.Arg101=)
| gnomAD v4 |
| X | g.54495130C>G | CA516574634 | FGD1 | c.303G>C (p.Arg101=)
| |
| X | g.54495130C>T | CA516574635 | FGD1 | c.303G>A (p.Arg101=)
| gnomAD v4 |
| X | g.54495131C>A | CA328946553 | FGD1 | c.302G>T (p.Arg101Leu)
| dbSNP gnomAD v4 |
| X | g.54495131C= | CA2430198348 | FGD1 | c.302G= (p.Arg101=)
| |
| X | g.54495131C>G | CA413254381 | FGD1 | c.302G>C (p.Arg101Pro)
| |
| X | g.54495131C>T | CA413254382 | FGD1 | c.302G>A (p.Arg101Gln)
| |
| X | g.54495132G>A | CA413254386 | FGD1 | c.301C>T (p.Arg101Trp)
| gnomAD v4 |
| X | g.54495132G>C | CA413254384 | FGD1 | c.301C>G (p.Arg101Gly)
| dbSNP gnomAD v4 |
| X | g.54495132G= | CA2430198349 | FGD1 | c.301C= (p.Arg101=)
| |
| X | g.54495132G>T | CA516574636 | FGD1 | c.301C>A (p.Arg101=)
| gnomAD v4 |
| X | g.54495133A>C | CA516574637 | FGD1 | c.300T>G (p.Pro100=)
| |
| X | g.54495133A>G | CA516574638 | FGD1 | c.300T>C (p.Pro100=)
| |
| X | g.54495133A>T | CA516574639 | FGD1 | c.300T>A (p.Pro100=)
| |
| X | g.54495134G>A | CA413254388 | FGD1 | c.299C>T (p.Pro100Leu)
| |
| X | g.54495134G>C | CA413254389 | FGD1 | c.299C>G (p.Pro100Arg)
| |
| X | g.54495134G>T | CA413254391 | FGD1 | c.299C>A (p.Pro100His)
| gnomAD v4 |
| X | g.54495135G>A | CA413254393 | FGD1 | c.298C>T (p.Pro100Ser)
| |
| X | g.54495135G>C | CA413254394 | FGD1 | c.298C>G (p.Pro100Ala)
| |
| X | g.54495135G>T | CA413254396 | FGD1 | c.298C>A (p.Pro100Thr)
| |
| X | g.54495136C>A | CA413254397 | FGD1 | c.297G>T (p.Gln99His)
| gnomAD v4 |
| X | g.54495136C>G | CA413254399 | FGD1 | c.297G>C (p.Gln99His)
| |
| X | g.54495136C>T | CA516574640 | FGD1 | c.297G>A (p.Gln99=)
| gnomAD v4 |
| X | g.54495137T>A | CA413254401 | FGD1 | c.296A>T (p.Gln99Leu)
| gnomAD v4 |
| X | g.54495137T>C | CA10425295 | FGD1 | c.296A>G (p.Gln99Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.54495137T>G | CA413254403 | FGD1 | c.296A>C (p.Gln99Pro)
| |
| X | g.54495137T= | CA2430198350 | FGD1 | c.296A= (p.Gln99=)
| |
| X | g.54495138G>A | CA413254408 | FGD1 | c.295C>T (p.Gln99Ter)
| |
| X | g.54495138G>C | CA413254407 | FGD1 | c.295C>G (p.Gln99Glu)
| |
| X | g.54495138G>T | CA413254405 | FGD1 | c.295C>A (p.Gln99Lys)
| gnomAD v4 |
| X | g.54495139C>A | CA516574641 | FGD1 | c.294G>T (p.Ser98=)
| gnomAD v4 |
| X | g.54495139C>G | CA516574642 | FGD1 | c.294G>C (p.Ser98=)
| |
| X | g.54495139C>T | CA516574643 | FGD1 | c.294G>A (p.Ser98=)
| gnomAD v4 COSMIC |
| X | g.54495140G>A | CA10425296 | FGD1 | c.293C>T (p.Ser98Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.54495140G>C | CA413254410 | FGD1 | c.293C>G (p.Ser98Trp)
| ClinVar dbSNP |
| X | g.54495140G= | CA2430198351 | FGD1 | c.293C= (p.Ser98=)
| |
| X | g.54495140G>T | CA413254411 | FGD1 | c.293C>A (p.Ser98Ter)
| gnomAD v4 |
| X | g.54495141A>C | CA413254413 | FGD1 | c.292T>G (p.Ser98Ala)
| |
| X | g.54495141A>G | CA413254415 | FGD1 | c.292T>C (p.Ser98Pro)
| gnomAD v4 |
| X | g.54495141A>T | CA413254416 | FGD1 | c.292T>A (p.Ser98Thr)
| |
| X | g.54495142G>A | CA516574644 | FGD1 | c.291C>T (p.Gly97=)
| gnomAD v4 |
| X | g.54495142G>C | CA516574645 | FGD1 | c.291C>G (p.Gly97=)
| |
| X | g.54495142G>T | CA516574646 | FGD1 | c.291C>A (p.Gly97=)
| gnomAD v4 |
| X | g.54495143C>A | CA413254418 | FGD1 | c.290G>T (p.Gly97Val)
| gnomAD v4 |
| X | g.54495143C= | CA2430198352 | FGD1 | c.290G= (p.Gly97=)
| |
| X | g.54495143C>G | CA413254419 | FGD1 | c.290G>C (p.Gly97Ala)
| |
| X | g.54495143C>T | CA413254420 | FGD1 | c.290G>A (p.Gly97Asp)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.54495144C>A | CA413254421 | FGD1 | c.289G>T (p.Gly97Cys)
| gnomAD v4 |
| X | g.54495144C= | CA2430198353 | FGD1 | c.289G= (p.Gly97=)
| |
| X | g.54495144C>G | CA413254422 | FGD1 | c.289G>C (p.Gly97Arg)
| |
| X | g.54495144C>T | CA413254423 | FGD1 | c.289G>A (p.Gly97Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.54495145C>A | CA413254425 | FGD1 | c.288G>T (p.Glu96Asp)
| gnomAD v4 |
| X | g.54495145C>G | CA413254424 | FGD1 | c.288G>C (p.Glu96Asp)
| |
| X | g.54495145C>T | CA516574647 | FGD1 | c.288G>A (p.Glu96=)
| |
| X | g.54495146T>A | CA413254426 | FGD1 | c.287A>T (p.Glu96Val)
| |
| X | g.54495146T>C | CA413254427 | FGD1 | c.287A>G (p.Glu96Gly)
| gnomAD v4 |
| X | g.54495146T>G | CA413254428 | FGD1 | c.287A>C (p.Glu96Ala)
| |
| X | g.54495147C>A | CA413254429 | FGD1 | c.286G>T (p.Glu96Ter)
| gnomAD v4 |
| X | g.54495147C>G | CA413254430 | FGD1 | c.286G>C (p.Glu96Gln)
| |
| X | g.54495147C>T | CA413254431 | FGD1 | c.286G>A (p.Glu96Lys)
| |
| X | g.54495148C>A | CA516574648 | FGD1 | c.285G>T (p.Leu95=)
| gnomAD v4 |
| X | g.54495148C>G | CA516574649 | FGD1 | c.285G>C (p.Leu95=)
| |
| X | g.54495148C>T | CA516574650 | FGD1 | c.285G>A (p.Leu95=)
| gnomAD v4 |
| 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 |
