Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.54465787T>ACA413244886FGD1c.1406A>T (p.Glu469Val)
Xg.54465787T>CCA413244892FGD1c.1406A>G (p.Glu469Gly)
Xg.54465787T>GCA413244894FGD1c.1406A>C (p.Glu469Ala)
Xg.54465788C>ACA413244897FGD1c.1405G>T (p.Glu469Ter)
Xg.54465788C>GCA413244898FGD1c.1405G>C (p.Glu469Gln)
Xg.54465788C>TCA413244899FGD1c.1405G>A (p.Glu469Lys)
COSMIC
Xg.54465789A>CCA516689422FGD1c.1404T>G (p.Gly468=)
Xg.54465789A>GCA516689423FGD1c.1404T>C (p.Gly468=)
Xg.54465789A>TCA516689425FGD1c.1404T>A (p.Gly468=)
Xg.54465790C>ACA413244903FGD1c.1403G>T (p.Gly468Val)
Xg.54465790C>GCA413244904FGD1c.1403G>C (p.Gly468Ala)
Xg.54465790C>TCA413244900FGD1c.1403G>A (p.Gly468Asp)
Xg.54465791C>ACA413244907FGD1c.1402G>T (p.Gly468Cys)
Xg.54465791C>GCA413244908FGD1c.1402G>C (p.Gly468Arg)
Xg.54465791C>TCA413244909FGD1c.1402G>A (p.Gly468Ser)
Xg.54465792A>CCA413244911FGD1c.1401T>G (p.Tyr467Ter)
Xg.54465792A>GCA516689430FGD1c.1401T>C (p.Tyr467=)
gnomAD v4
Xg.54465792A>TCA413244913FGD1c.1401T>A (p.Tyr467Ter)
Xg.54465793T>ACA413244922FGD1c.1400A>T (p.Tyr467Phe)
Xg.54465793T>CCA413244919FGD1c.1400A>G (p.Tyr467Cys)
gnomAD v4
Xg.54465793T>GCA413244916FGD1c.1400A>C (p.Tyr467Ser)
Xg.54465794A>CCA413244924FGD1c.1399T>G (p.Tyr467Asp)
Xg.54465794A>GCA413244925FGD1c.1399T>C (p.Tyr467His)
Xg.54465794A>TCA413244929FGD1c.1399T>A (p.Tyr467Asn)
Xg.54465795C>ACA413244934FGD1c.1398G>T (p.Met466Ile)
Xg.54465795C>GCA413244935FGD1c.1398G>C (p.Met466Ile)
Xg.54465795C>TCA413244938FGD1c.1398G>A (p.Met466Ile)
Xg.54465796A>CCA413244942FGD1c.1397T>G (p.Met466Arg)
Xg.54465796A>GCA413244952FGD1c.1397T>C (p.Met466Thr)
Xg.54465796A>TCA413244946FGD1c.1397T>A (p.Met466Lys)
Xg.54465797T>ACA413244955FGD1c.1396A>T (p.Met466Leu)
Xg.54465797T>CCA121197FGD1c.1396A>G (p.Met466Val)
ClinVar dbSNP
Xg.54465797T>GCA413244967FGD1c.1396A>C (p.Met466Leu)
Xg.54465797T=CA2430188923FGD1c.1396A= (p.Met466=)
Xg.54465798C>ACA413244970FGD1c.1395G>T (p.Lys465Asn)
Xg.54465798C>GCA413244972FGD1c.1395G>C (p.Lys465Asn)
Xg.54465798C>TCA516689437FGD1c.1395G>A (p.Lys465=)
Xg.54465799T>ACA413244980FGD1c.1394A>T (p.Lys465Met)
Xg.54465799T>CCA413244984FGD1c.1394A>G (p.Lys465Arg)
gnomAD v4
Xg.54465799T>GCA413244986FGD1c.1394A>C (p.Lys465Thr)
Xg.54465800T>ACA413244988FGD1c.1393A>T (p.Lys465Ter)
Xg.54465800T>CCA413244990FGD1c.1393A>G (p.Lys465Glu)
Xg.54465800T>GCA413244992FGD1c.1393A>C (p.Lys465Gln)
Xg.54465801G>ACA10425106FGD1c.1392C>T (p.Leu464=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54465801G>CCA516689440FGD1c.1392C>G (p.Leu464=)
Xg.54465801G=CA2430188924FGD1c.1392C= (p.Leu464=)
Xg.54465801G>TCA516689442FGD1c.1392C>A (p.Leu464=)
Xg.54465801dupCA2580101236FGD1c.1392dup (p.Lys465GlnfsTer5)
ClinVar
Xg.54465802A>CCA413245005FGD1c.1391T>G (p.Leu464Arg)
Xg.54465802A>GCA413245001FGD1c.1391T>C (p.Leu464Pro)
Xg.54465802A>TCA413245000FGD1c.1391T>A (p.Leu464His)
Xg.54465803G>ACA413245008FGD1c.1390C>T (p.Leu464Phe)
Xg.54465803G>CCA413245015FGD1c.1390C>G (p.Leu464Val)
Xg.54465803G>TCA413245009FGD1c.1390C>A (p.Leu464Ile)
Xg.54465804G>ACA516689448FGD1c.1389C>T (p.Phe463=)
dbSNP gnomAD v2 gnomAD v4
Xg.54465804G>CCA413245018FGD1c.1389C>G (p.Phe463Leu)
Xg.54465804G=CA2430188925FGD1c.1389C= (p.Phe463=)
Xg.54465804G>TCA413245020FGD1c.1389C>A (p.Phe463Leu)
Xg.54465805A>CCA413245021FGD1c.1388T>G (p.Phe463Cys)
Xg.54465805A>GCA413245022FGD1c.1388T>C (p.Phe463Ser)
Xg.54465805A>TCA413245024FGD1c.1388T>A (p.Phe463Tyr)
Xg.54465806A=CA2430188926FGD1c.1387T= (p.Phe463=)
Xg.54465806A>CCA413245027FGD1c.1387T>G (p.Phe463Val)
Xg.54465806A>GCA413245029FGD1c.1387T>C (p.Phe463Leu)
ClinVar dbSNP
Xg.54465806A>TCA413245031FGD1c.1387T>A (p.Phe463Ile)
Xg.54465807G>ACA516689450FGD1c.1386C>T (p.Pro462=)
Xg.54465807G>CCA516689453FGD1c.1386C>G (p.Pro462=)
Xg.54465807G>TCA516689451FGD1c.1386C>A (p.Pro462=)
Xg.54465811dupCA920413443FGD1c.1386dup (p.Phe463LeufsTer7)
dbSNP
Xg.54465808G>ACA413245033FGD1c.1385C>T (p.Pro462Leu)
COSMIC
Xg.54465808G>CCA413245035FGD1c.1385C>G (p.Pro462Arg)
Xg.54465808G>TCA413245038FGD1c.1385C>A (p.Pro462His)
Xg.54465809G>ACA413245039FGD1c.1384C>T (p.Pro462Ser)
Xg.54465809G>CCA413245041FGD1c.1384C>G (p.Pro462Ala)
dbSNP
Xg.54465809G=CA2430188927FGD1c.1384C= (p.Pro462=)
Xg.54465809G>TCA413245043FGD1c.1384C>A (p.Pro462Thr)
Xg.54465810G>ACA516689457FGD1c.1383C>T (p.Ala461=)
Xg.54465810G>CCA516689458FGD1c.1383C>G (p.Ala461=)
Xg.54465810G>TCA516689459FGD1c.1383C>A (p.Ala461=)
Xg.54465811G>ACA413245047FGD1c.1382C>T (p.Ala461Val)
gnomAD v4
Xg.54465811G>CCA413245049FGD1c.1382C>G (p.Ala461Gly)
Xg.54465811G>TCA413245048FGD1c.1382C>A (p.Ala461Asp)
Xg.54465812C>ACA413245051FGD1c.1381G>T (p.Ala461Ser)
Xg.54465812C>GCA413245064FGD1c.1381G>C (p.Ala461Pro)
Xg.54465812C>TCA413245077FGD1c.1381G>A (p.Ala461Thr)
Xg.54465813C>ACA516689461FGD1c.1380G>T (p.Leu460=)
Xg.54465813C>GCA516689462FGD1c.1380G>C (p.Leu460=)
Xg.54465813C>TCA516689463FGD1c.1380G>A (p.Leu460=)
Xg.54465814A>CCA413245082FGD1c.1379T>G (p.Leu460Arg)
Xg.54465814A>GCA413245087FGD1c.1379T>C (p.Leu460Pro)
Xg.54465814A>TCA413245093FGD1c.1379T>A (p.Leu460Gln)
Xg.54465815G>ACA516689467FGD1c.1378C>T (p.Leu460=)
gnomAD v4
Xg.54465815G>CCA413245098FGD1c.1378C>G (p.Leu460Val)
Xg.54465815G>TCA413245104FGD1c.1378C>A (p.Leu460Met)
Xg.54465816T>ACA413245106FGD1c.1377A>T (p.Lys459Asn)
Xg.54465816T>CCA516689471FGD1c.1377A>G (p.Lys459=)
Xg.54465816T>GCA413245107FGD1c.1377A>C (p.Lys459Asn)
Xg.54465817T>ACA413245115FGD1c.1376A>T (p.Lys459Ile)
Xg.54465817T>CCA413245127FGD1c.1376A>G (p.Lys459Arg)
Xg.54465817T>GCA413245109FGD1c.1376A>C (p.Lys459Thr)
Xg.54465818T>ACA413245128FGD1c.1375A>T (p.Lys459Ter)
Xg.54465818T>CCA413245129FGD1c.1375A>G (p.Lys459Glu)
Xg.54465818T>GCA413245130FGD1c.1375A>C (p.Lys459Gln)
Xg.54465819C>ACA413245132FGD1c.1374G>T (p.Gln458His)
Xg.54465819C>GCA413245133FGD1c.1374G>C (p.Gln458His)
Xg.54465819C>TCA516689473FGD1c.1374G>A (p.Gln458=)
Xg.54465820T>ACA413245135FGD1c.1373A>T (p.Gln458Leu)
Xg.54465820T>CCA413245137FGD1c.1373A>G (p.Gln458Arg)
Xg.54465820T>GCA413245140FGD1c.1373A>C (p.Gln458Pro)
Xg.54465821G>ACA413245144FGD1c.1372C>T (p.Gln458Ter)
Xg.54465821G>CCA413245146FGD1c.1372C>G (p.Gln458Glu)
gnomAD v4
Xg.54465821G>TCA413245147FGD1c.1372C>A (p.Gln458Lys)
Xg.54465822C>ACA516689477FGD1c.1371G>T (p.Leu457=)
Xg.54465822C>GCA516689478FGD1c.1371G>C (p.Leu457=)
Xg.54465822C>TCA516689480FGD1c.1371G>A (p.Leu457=)
Xg.54465823A>CCA413245149FGD1c.1370T>G (p.Leu457Arg)
Xg.54465823A>GCA413245150FGD1c.1370T>C (p.Leu457Pro)
Xg.54465823A>TCA413245148FGD1c.1370T>A (p.Leu457Gln)
Xg.54465824G>ACA516689482FGD1c.1369C>T (p.Leu457=)
Xg.54465824G>CCA413245152FGD1c.1369C>G (p.Leu457Val)
Xg.54465824G>TCA413245154FGD1c.1369C>A (p.Leu457Met)
Xg.54465825G>ACA516689486FGD1c.1368C>T (p.Ile456=)
COSMIC
Xg.54465825G>CCA413245157FGD1c.1368C>G (p.Ile456Met)
Xg.54465825G>TCA516689487FGD1c.1368C>A (p.Ile456=)
Xg.54465826A>CCA413245158FGD1c.1367T>G (p.Ile456Ser)
Xg.54465826A>GCA413245159FGD1c.1367T>C (p.Ile456Thr)
Xg.54465826A>TCA413245160FGD1c.1367T>A (p.Ile456Asn)
ClinVar
Xg.54465827T>ACA413245162FGD1c.1366A>T (p.Ile456Phe)
Xg.54465827T>CCA413245168FGD1c.1366A>G (p.Ile456Val)
Xg.54465827T>GCA413245165FGD1c.1366A>C (p.Ile456Leu)
Xg.54465828G>ACA516689491FGD1c.1365C>T (p.Asp455=)
gnomAD v4
Xg.54465828G>CCA413245171FGD1c.1365C>G (p.Asp455Glu)
Xg.54465828G>TCA413245172FGD1c.1365C>A (p.Asp455Glu)
Xg.54465829T>ACA413245185FGD1c.1364A>T (p.Asp455Val)
Xg.54465829T>CCA413245190FGD1c.1364A>G (p.Asp455Gly)
Xg.54465829T>GCA413245195FGD1c.1364A>C (p.Asp455Ala)
Xg.54465830C>ACA413245202FGD1c.1363G>T (p.Asp455Tyr)
Xg.54465830C>GCA413245204FGD1c.1363G>C (p.Asp455His)
Xg.54465830C>TCA413245200FGD1c.1363G>A (p.Asp455Asn)
Xg.54465831T>ACA516689496FGD1c.1362A>T (p.Gly454=)
Xg.54465831T>CCA516689497FGD1c.1362A>G (p.Gly454=)
Xg.54465831T>GCA516689498FGD1c.1362A>C (p.Gly454=)
Xg.54465832C>ACA413245208FGD1c.1361G>T (p.Gly454Val)
Xg.54465832C>GCA413245211FGD1c.1361G>C (p.Gly454Ala)
Xg.54465832C>TCA413245212FGD1c.1361G>A (p.Gly454Glu)
Xg.54465833C>ACA413245213FGD1c.1360G>T (p.Gly454Ter)
Xg.54465833C>GCA413245214FGD1c.1360G>C (p.Gly454Arg)
Xg.54465833C>TCA413245217FGD1c.1360G>A (p.Gly454Arg)
ClinVar
Xg.54465834A>CCA413245220FGD1c.1359T>G (p.Ile453Met)
Xg.54465834A>GCA516689502FGD1c.1359T>C (p.Ile453=)
Xg.54465834A>TCA516689504FGD1c.1359T>A (p.Ile453=)
Xg.54465835A>CCA413245226FGD1c.1358T>G (p.Ile453Ser)
Xg.54465835A>GCA413245232FGD1c.1358T>C (p.Ile453Thr)
Xg.54465835A>TCA413245234FGD1c.1358T>A (p.Ile453Asn)
Xg.54465836T>ACA413245237FGD1c.1357A>T (p.Ile453Phe)
Xg.54465836T>CCA413245241FGD1c.1357A>G (p.Ile453Val)
Xg.54465836T>GCA413245254FGD1c.1357A>C (p.Ile453Leu)
Xg.54465837G>ACA516689512FGD1c.1356C>T (p.Arg452=)
Xg.54465837G>CCA516689511FGD1c.1356C>G (p.Arg452=)
Xg.54465837G>TCA516689510FGD1c.1356C>A (p.Arg452=)
Xg.54465838C>ACA413245270FGD1c.1355G>T (p.Arg452Leu)
Xg.54465838C=CA2430188928FGD1c.1355G= (p.Arg452=)
Xg.54465838C>GCA413245265FGD1c.1355G>C (p.Arg452Pro)
Xg.54465838C>TCA413245262FGD1c.1355G>A (p.Arg452His)
dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.54465839G>ACA328937326FGD1c.1354C>T (p.Arg452Cys)
ClinVar dbSNP
Xg.54465839G>CCA413245275FGD1c.1354C>G (p.Arg452Gly)
Xg.54465839G=CA2430188929FGD1c.1354C= (p.Arg452=)
Xg.54465839G>TCA413245277FGD1c.1354C>A (p.Arg452Ser)
Xg.54465840T>ACA516689516FGD1c.1353A>T (p.Pro451=)
Xg.54465840T>CCA516689517FGD1c.1353A>G (p.Pro451=)
Xg.54465840T>GCA516689518FGD1c.1353A>C (p.Pro451=)
Xg.54465841G>ACA10425107FGD1c.1352C>T (p.Pro451Leu)
dbSNP ExAC gnomAD v2
Xg.54465841G>CCA413245281FGD1c.1352C>G (p.Pro451Arg)
Xg.54465841G=CA2430188930FGD1c.1352C= (p.Pro451=)
Xg.54465841G>TCA413245284FGD1c.1352C>A (p.Pro451Gln)
Xg.54465842G>ACA413245290FGD1c.1351C>T (p.Pro451Ser)
Xg.54465842G>CCA413245298FGD1c.1351C>G (p.Pro451Ala)
Xg.54465842G>TCA413245300FGD1c.1351C>A (p.Pro451Thr)
Xg.54465843A>CCA413245304FGD1c.1350T>G (p.Tyr450Ter)
Xg.54465843A>GCA516689522FGD1c.1350T>C (p.Tyr450=)
Xg.54465843A>TCA413245306FGD1c.1350T>A (p.Tyr450Ter)
Xg.54465844T>ACA413245310FGD1c.1349A>T (p.Tyr450Phe)
Xg.54465844T>CCA10425108FGD1c.1349A>G (p.Tyr450Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54465844T>GCA413245312FGD1c.1349A>C (p.Tyr450Ser)
Xg.54465844T=CA2430188931FGD1c.1349A= (p.Tyr450=)
Xg.54465845A>CCA413245316FGD1c.1348T>G (p.Tyr450Asp)
gnomAD v4
Xg.54465845A>GCA413245318FGD1c.1348T>C (p.Tyr450His)
gnomAD v4
Xg.54465845A>TCA413245315FGD1c.1348T>A (p.Tyr450Asn)
Xg.54465846G>ACA516689525FGD1c.1347C>T (p.Arg449=)
Xg.54465846G>CCA516689526FGD1c.1347C>G (p.Arg449=)
Xg.54465846G>TCA516689527FGD1c.1347C>A (p.Arg449=)
Xg.54465847C>ACA413245332FGD1c.1346G>T (p.Arg449Leu)
Xg.54465847C=CA2430188932FGD1c.1346G= (p.Arg449=)
Xg.54465847C>GCA413245336FGD1c.1346G>C (p.Arg449Pro)
Xg.54465847C>TCA10425109FGD1c.1346G>A (p.Arg449His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54465848G>ACA413245346FGD1c.1345C>T (p.Arg449Cys)
ClinVar gnomAD v4
Xg.54465848G>CCA413245349FGD1c.1345C>G (p.Arg449Gly)
Xg.54465848G>TCA413245351FGD1c.1345C>A (p.Arg449Ser)
Xg.54465849G>ACA516689533FGD1c.1344C>T (p.Asp448=)
Xg.54465849G>CCA413245357FGD1c.1344C>G (p.Asp448Glu)
Xg.54465849G>TCA413245356FGD1c.1344C>A (p.Asp448Glu)
Xg.54465850T>ACA413245359FGD1c.1343A>T (p.Asp448Val)
Xg.54465850T>CCA413245362FGD1c.1343A>G (p.Asp448Gly)
Xg.54465850T>GCA413245364FGD1c.1343A>C (p.Asp448Ala)
Xg.54465851C>ACA413245367FGD1c.1342G>T (p.Asp448Tyr)
Xg.54465851C>GCA413245371FGD1c.1342G>C (p.Asp448His)
Xg.54465851C>TCA413245376FGD1c.1342G>A (p.Asp448Asn)
Xg.54465852C>ACA413245379FGD1c.1341G>T (p.Trp447Cys)
Xg.54465852C>GCA413245385FGD1c.1341G>C (p.Trp447Cys)
Xg.54465852C>TCA413245382FGD1c.1341G>A (p.Trp447Ter)
Xg.54465853C>ACA413245386FGD1c.1341-1G>T (n.1341-1G>T)
gnomAD v4
Xg.54465853C>GCA413245389FGD1c.1341-1G>C (n.1341-1G>C)
Xg.54465853C>TCA413245392FGD1c.1341-1G>A (n.1341-1G>A)
Xg.54465854T>ACA413245396FGD1c.1341-2A>T (n.1341-2A>T)
Xg.54465854T>CCA413245400FGD1c.1341-2A>G (n.1341-2A>G)
Xg.54465854T>GCA413245404FGD1c.1341-2A>C (n.1341-2A>C)
Xg.54465855G>ACA10425110FGD1c.1341-3C>T (n.1341-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54465855G=CA2430188933FGD1c.1341-3C= (n.1341-3C=)
Xg.54465856G>ACA10425111FGD1c.1341-4C>T (n.1341-4C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54465856G=CA2430188934FGD1c.1341-4C= (n.1341-4C=)
Xg.54465857G>TCA2693845167FGD1c.1341-5C>A (n.1341-5C>A)
gnomAD v4
Xg.54465857_54465858insAGGAAGGCCGGTGTTCCACGATAAATGAGAGCCTCTCAAAGTAAAATAAGTACATAAACAACAGCCTCA2741752206FGD1c.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT (n.1341-6_1341-5insAGGCTGTTGTTTATGTACTTATTTTACTTTGAGAGGCTCTCATTTATCGTGGAACACCGGCCTTCCT)
Xg.54465858_54465859delinsGTCA2430188935FGD1c.1341-7_1341-6delinsAC (n.1341-7_1341-6delinsAC)
Xg.54465859delCA2430188936FGD1c.1341-7del (n.1341-7del)
dbSNP
Xg.54465860G>ACA915951112FGD1c.1341-8C>T (n.1341-8C>T)
ClinVar dbSNP
Xg.54465860G=CA2430188937FGD1c.1341-8C= (n.1341-8C=)
Xg.54465867G>ACA1133231159FGD1c.1341-15C>T (n.1341-15C>T)
dbSNP
Xg.54465867G=CA2430188938FGD1c.1341-15C= (n.1341-15C=)
Xg.54465870G>ACA10425112FGD1c.1341-18C>T (n.1341-18C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.54465870G=CA2430188939FGD1c.1341-18C= (n.1341-18C=)
Xg.54465871C>TCA2693845168FGD1c.1341-19G>A (n.1341-19G>A)
gnomAD v4
Xg.54465875T>CCA2535500479FGD1c.1341-23A>G (n.1341-23A>G)
gnomAD v4
Xg.54465876G>ACA658223376FGD1c.1341-24C>T (n.1341-24C>T)
COSMIC
Xg.54465877T>CCA2430188941FGD1c.1341-25A>G (n.1341-25A>G)
dbSNP
Xg.54465877T=CA2430188940FGD1c.1341-25A= (n.1341-25A=)
Xg.54465878G>CCA2579621710FGD1c.1341-26C>G (n.1341-26C>G)
Xg.54465879G>ACA2693845169FGD1c.1341-27C>T (n.1341-27C>T)
gnomAD v4
Xg.54465879G>TCA658223377FGD1c.1341-27C>A (n.1341-27C>A)
COSMIC
Xg.54465882C=CA2430188942FGD1c.1341-30G= (n.1341-30G=)
Xg.54465882C>TCA10425113FGD1c.1341-30G>A (n.1341-30G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.54465883T>CCA2693845170FGD1c.1341-31A>G (n.1341-31A>G)
gnomAD v4
Xg.54465884G>TCA2579621711FGD1c.1341-32C>A (n.1341-32C>A)
Xg.54465886_54465887delinsTGCA2430188943FGD1c.1341-35_1341-34delinsCA (n.1341-35_1341-34delinsCA)
Xg.54465887delCA2430188945FGD1c.1341-35del (n.1341-35del)
dbSNP gnomAD v4
Xg.54465887G=CA2430188944FGD1c.1341-35C= (n.1341-35C=)
Xg.54465887G>TCA876352213FGD1c.1341-35C>A (n.1341-35C>A)
dbSNP gnomAD v4

Number of alleles fetched