Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18869232C>ACA404863182CERS1,GDF1c.*753G>T (n.*753G>T)
c.484G>T (p.Gly162Cys)
c.*1345G>T (n.*1345G>T)
 gnomAD v4
19g.18869232C=CA2326567775CERS1,GDF1c.*753G= (n.*753G=)
c.484G= (p.Gly162=)
c.*1345G= (n.*1345G=)
19g.18869232C>GCA404863183CERS1,GDF1c.*753G>C (n.*753G>C)
c.484G>C (p.Gly162Arg)
c.*1345G>C (n.*1345G>C)
 gnomAD v4
19g.18869232C>TCA404863184CERS1,GDF1c.*753G>A (n.*753G>A)
c.484G>A (p.Gly162Ser)
c.*1345G>A (n.*1345G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869233delCA2583634784CERS1,GDF1c.*752del (n.*752del)
c.483del (p.Gly162AlafsTer4)
c.*1344del (n.*1344del)
 gnomAD v4
19g.18869233G>ACA506118707CERS1,GDF1c.*752C>T (n.*752C>T)
c.483C>T (p.Gly161=)
c.*1344C>T (n.*1344C>T)
 gnomAD v4
19g.18869233G>CCA506118708CERS1,GDF1c.*752C>G (n.*752C>G)
c.483C>G (p.Gly161=)
c.*1344C>G (n.*1344C>G)
19g.18869233G=CA2326567776CERS1,GDF1c.*752C= (n.*752C=)
c.483C= (p.Gly161=)
c.*1344C= (n.*1344C=)
19g.18869233G>TCA506118709CERS1,GDF1c.*752C>A (n.*752C>A)
c.483C>A (p.Gly161=)
c.*1344C>A (n.*1344C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869234C>ACA404863185CERS1,GDF1c.*751G>T (n.*751G>T)
c.482G>T (p.Gly161Val)
c.*1343G>T (n.*1343G>T)
19g.18869234C>GCA404863186CERS1,GDF1c.*751G>C (n.*751G>C)
c.482G>C (p.Gly161Ala)
c.*1343G>C (n.*1343G>C)
19g.18869234C>TCA404863187CERS1,GDF1c.*751G>A (n.*751G>A)
c.482G>A (p.Gly161Asp)
c.*1343G>A (n.*1343G>A)
 gnomAD v4
19g.18869236delCA2583634785CERS1,GDF1c.*751del (n.*751del)
c.482del (p.Gly161AlafsTer5)
c.*1343del (n.*1343del)
 gnomAD v4
19g.18869235C>ACA404863190CERS1,GDF1c.*750G>T (n.*750G>T)
c.481G>T (p.Gly161Cys)
c.*1342G>T (n.*1342G>T)
19g.18869235C>GCA404863188CERS1,GDF1c.*750G>C (n.*750G>C)
c.481G>C (p.Gly161Arg)
c.*1342G>C (n.*1342G>C)
19g.18869235C>TCA404863189CERS1,GDF1c.*750G>A (n.*750G>A)
c.481G>A (p.Gly161Ser)
c.*1342G>A (n.*1342G>A)
19g.18869236C>ACA404863191CERS1,GDF1c.*749G>T (n.*749G>T)
c.480G>T (p.Glu160Asp)
c.*1341G>T (n.*1341G>T)
 gnomAD v4
19g.18869236C>GCA404863192CERS1,GDF1c.*749G>C (n.*749G>C)
c.480G>C (p.Glu160Asp)
c.*1341G>C (n.*1341G>C)
19g.18869236C>TCA506118711CERS1,GDF1c.*749G>A (n.*749G>A)
c.480G>A (p.Glu160=)
c.*1341G>A (n.*1341G>A)
 gnomAD v4
19g.18869237T>ACA404863193CERS1,GDF1c.*748A>T (n.*748A>T)
c.479A>T (p.Glu160Val)
c.*1340A>T (n.*1340A>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869237T>CCA404863194CERS1,GDF1c.*748A>G (n.*748A>G)
c.479A>G (p.Glu160Gly)
c.*1340A>G (n.*1340A>G)
 gnomAD v4
19g.18869237T>GCA404863195CERS1,GDF1c.*748A>C (n.*748A>C)
c.479A>C (p.Glu160Ala)
c.*1340A>C (n.*1340A>C)
19g.18869237T=CA2326567777CERS1,GDF1c.*748A= (n.*748A=)
c.479A= (p.Glu160=)
c.*1340A= (n.*1340A=)
19g.18869237dupCA2695228499CERS1,GDF1c.*748dup (n.*748dup)
c.479dup (p.Gly162ArgfsTer?)
c.*1340dup (n.*1340dup)
19g.18869238C>ACA404863198CERS1,GDF1c.*747G>T (n.*747G>T)
c.478G>T (p.Glu160Ter)
c.*1339G>T (n.*1339G>T)
 gnomAD v4
19g.18869238C=CA2326567778CERS1,GDF1c.*747G= (n.*747G=)
c.478G= (p.Glu160=)
c.*1339G= (n.*1339G=)
19g.18869238C>GCA404863196CERS1,GDF1c.*747G>C (n.*747G>C)
c.478G>C (p.Glu160Gln)
c.*1339G>C (n.*1339G>C)
 gnomAD v4
19g.18869238C>TCA404863197CERS1,GDF1c.*747G>A (n.*747G>A)
c.478G>A (p.Glu160Lys)
c.*1339G>A (n.*1339G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869241_18869249dupCA632627053CERS1,GDF1c.*739_*747dup (n.*739_*747dup)
c.470_478dup (p.Pro159_Glu160insAlaAlaPro)
c.*1331_*1339dup (n.*1331_*1339dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869239C>ACA506118715CERS1,GDF1c.*746G>T (n.*746G>T)
c.477G>T (p.Pro159=)
c.*1338G>T (n.*1338G>T)
19g.18869239C=CA2326567779CERS1,GDF1c.*746G= (n.*746G=)
c.477G= (p.Pro159=)
c.*1338G= (n.*1338G=)
19g.18869239C>GCA506118716CERS1,GDF1c.*746G>C (n.*746G>C)
c.477G>C (p.Pro159=)
c.*1338G>C (n.*1338G>C)
19g.18869239C>TCA506118717CERS1,GDF1c.*746G>A (n.*746G>A)
c.477G>A (p.Pro159=)
c.*1338G>A (n.*1338G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869240G>ACA404863199CERS1,GDF1c.*745C>T (n.*745C>T)
c.476C>T (p.Pro159Leu)
c.*1337C>T (n.*1337C>T)
 ClinVar dbSNP
19g.18869240G>CCA404863201CERS1,GDF1c.*745C>G (n.*745C>G)
c.476C>G (p.Pro159Arg)
c.*1337C>G (n.*1337C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869240G=CA2326567780CERS1,GDF1c.*745C= (n.*745C=)
c.476C= (p.Pro159=)
c.*1337C= (n.*1337C=)
19g.18869240G>TCA404863200CERS1,GDF1c.*745C>A (n.*745C>A)
c.476C>A (p.Pro159Gln)
c.*1337C>A (n.*1337C>A)
 gnomAD v4
19g.18869241_18869246dupCA994235820CERS1,GDF1c.*740_*745dup (n.*740_*745dup)
c.471_476dup (p.Pro159_Glu160insAlaPro)
c.*1332_*1337dup (n.*1332_*1337dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18869241G>ACA404863202CERS1,GDF1c.*744C>T (n.*744C>T)
c.475C>T (p.Pro159Ser)
c.*1336C>T (n.*1336C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869241G>CCA404863203CERS1,GDF1c.*744C>G (n.*744C>G)
c.475C>G (p.Pro159Ala)
c.*1336C>G (n.*1336C>G)
19g.18869241G=CA2326567781CERS1,GDF1c.*744C= (n.*744C=)
c.475C= (p.Pro159=)
c.*1336C= (n.*1336C=)
19g.18869241G>TCA404863204CERS1,GDF1c.*744C>A (n.*744C>A)
c.475C>A (p.Pro159Thr)
c.*1336C>A (n.*1336C>A)
 gnomAD v4
19g.18869242G>ACA9317925CERS1,GDF1c.*743C>T (n.*743C>T)
c.474C>T (p.Ala158=)
c.*1335C>T (n.*1335C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18869242G>CCA506118720CERS1,GDF1c.*743C>G (n.*743C>G)
c.474C>G (p.Ala158=)
c.*1335C>G (n.*1335C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869242G=CA2326567782CERS1,GDF1c.*743C= (n.*743C=)
c.474C= (p.Ala158=)
c.*1335C= (n.*1335C=)
19g.18869242G>TCA306231767CERS1,GDF1c.*743C>A (n.*743C>A)
c.474C>A (p.Ala158=)
c.*1335C>A (n.*1335C>A)
 dbSNP
19g.18869242_18869244dupCA2583634786CERS1,GDF1c.*741_*743dup (n.*741_*743dup)
c.472_474dup (p.Ala158_Pro159insAla)
c.*1333_*1335dup (n.*1333_*1335dup)
 gnomAD v4
19g.18869243G>ACA404863205CERS1,GDF1c.*742C>T (n.*742C>T)
c.473C>T (p.Ala158Val)
c.*1334C>T (n.*1334C>T)
 dbSNP gnomAD v4
19g.18869243G>CCA404863206CERS1,GDF1c.*742C>G (n.*742C>G)
c.473C>G (p.Ala158Gly)
c.*1334C>G (n.*1334C>G)
19g.18869243G=CA2326567783CERS1,GDF1c.*742C= (n.*742C=)
c.473C= (p.Ala158=)
c.*1334C= (n.*1334C=)
19g.18869243G>TCA404863207CERS1,GDF1c.*742C>A (n.*742C>A)
c.473C>A (p.Ala158Asp)
c.*1334C>A (n.*1334C>A)
19g.18869243_18869244dupCA2583634787CERS1,GDF1c.*741_*742dup (n.*741_*742dup)
c.472_473dup (p.Glu160ArgfsTer7)
c.*1333_*1334dup (n.*1333_*1334dup)
 gnomAD v4
19g.18869245_18869247dupCA2583634788CERS1,GDF1c.*740_*742dup (n.*740_*742dup)
c.471_473dup (p.Ala158_Pro159insAla)
c.*1332_*1334dup (n.*1332_*1334dup)
 gnomAD v4
19g.18869245_18869250dupCA2583634789CERS1,GDF1c.*737_*742dup (n.*737_*742dup)
c.468_473dup (p.Ala158_Pro159insAlaAla)
c.*1329_*1334dup (n.*1329_*1334dup)
 gnomAD v4
19g.18869245_18869253dupCA632627054CERS1,GDF1c.*734_*742dup (n.*734_*742dup)
c.465_473dup (p.Ala158_Pro159insAlaAlaAla)
c.*1326_*1334dup (n.*1326_*1334dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869244C>ACA404863208CERS1,GDF1c.*741G>T (n.*741G>T)
c.472G>T (p.Ala158Ser)
c.*1333G>T (n.*1333G>T)
19g.18869244C>GCA404863209CERS1,GDF1c.*741G>C (n.*741G>C)
c.472G>C (p.Ala158Pro)
c.*1333G>C (n.*1333G>C)
19g.18869244C>TCA404863210CERS1,GDF1c.*741G>A (n.*741G>A)
c.472G>A (p.Ala158Thr)
c.*1333G>A (n.*1333G>A)
 gnomAD v4
19g.18869245T>ACA506118726CERS1,GDF1c.*740A>T (n.*740A>T)
c.471A>T (p.Ala157=)
c.*1332A>T (n.*1332A>T)
19g.18869245T>CCA506118727CERS1,GDF1c.*740A>G (n.*740A>G)
c.471A>G (p.Ala157=)
c.*1332A>G (n.*1332A>G)
 dbSNP gnomAD v4
19g.18869245T>GCA506118728CERS1,GDF1c.*740A>C (n.*740A>C)
c.471A>C (p.Ala157=)
c.*1332A>C (n.*1332A>C)
19g.18869245T=CA2326567785CERS1,GDF1c.*740A= (n.*740A=)
c.471A= (p.Ala157=)
c.*1332A= (n.*1332A=)
19g.18869245_18869254delinsTGCCGCCGCCCA2326567784CERS1,GDF1c.*731_*740delinsGGCGGCGGCA (n.*731_*740delinsGGCGGCGGCA)
c.462_471delinsGGCGGCGGCA (p.Ala154=)
c.*1323_*1332delinsGGCGGCGGCA (n.*1323_*1332delinsGGCGGCGGCA)
19g.18869245_18869246insACCCA2583634790CERS1,GDF1c.*739_*740insGGT (n.*739_*740insGGT)
c.470_471insGGT (p.Ala157_Ala158insVal)
c.*1331_*1332insGGT (n.*1331_*1332insGGT)
 gnomAD v4
19g.18869246G>ACA404863212CERS1,GDF1c.*739C>T (n.*739C>T)
c.470C>T (p.Ala157Val)
c.*1331C>T (n.*1331C>T)
 gnomAD v4
19g.18869246G>CCA404863211CERS1,GDF1c.*739C>G (n.*739C>G)
c.470C>G (p.Ala157Gly)
c.*1331C>G (n.*1331C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.18869246G=CA2326567786CERS1,GDF1c.*739C= (n.*739C=)
c.470C= (p.Ala157=)
c.*1331C= (n.*1331C=)
19g.18869246G>TCA404863213CERS1,GDF1c.*739C>A (n.*739C>A)
c.470C>A (p.Ala157Glu)
c.*1331C>A (n.*1331C>A)
19g.18869260_18869262dupCA203599CERS1,GDF1c.*737_*739dup (n.*737_*739dup)
c.468_470dup (p.Ala157_Ala158insAla)
c.*1329_*1331dup (n.*1329_*1331dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
19g.18869257_18869262dupCA920074481CERS1,GDF1c.*734_*739dup (n.*734_*739dup)
c.465_470dup (p.Ala157_Ala158insAlaAla)
c.*1326_*1331dup (n.*1326_*1331dup)
 dbSNP gnomAD v3 gnomAD v4
19g.18869254_18869262dupCA632627055CERS1,GDF1c.*731_*739dup (n.*731_*739dup)
c.462_470dup (p.Ala157_Ala158insAlaAlaAla)
c.*1323_*1331dup (n.*1323_*1331dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869251_18869262dupCA2583634791CERS1,GDF1c.*728_*739dup (n.*728_*739dup)
c.459_470dup (p.Ala157_Ala158insAlaAlaAlaAla)
c.*1320_*1331dup (n.*1320_*1331dup)
 gnomAD v4
19g.18869260_18869262delCA9317926CERS1,GDF1c.*737_*739del (n.*737_*739del)
c.468_470del (p.Ala157del)
c.*1329_*1331del (n.*1329_*1331del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869257_18869262delCA632627056CERS1,GDF1c.*734_*739del (n.*734_*739del)
c.465_470del (p.Ala156_Ala157del)
c.*1326_*1331del (n.*1326_*1331del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869254_18869262delCA9317927CERS1,GDF1c.*731_*739del (n.*731_*739del)
c.462_470del (p.Ala155_Ala157del)
c.*1323_*1331del (n.*1323_*1331del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869247C>ACA404863214CERS1,GDF1c.*738G>T (n.*738G>T)
c.469G>T (p.Ala157Ser)
c.*1330G>T (n.*1330G>T)
 gnomAD v4
19g.18869247C>GCA404863215CERS1,GDF1c.*738G>C (n.*738G>C)
c.469G>C (p.Ala157Pro)
c.*1330G>C (n.*1330G>C)
19g.18869247C>TCA404863216CERS1,GDF1c.*738G>A (n.*738G>A)
c.469G>A (p.Ala157Thr)
c.*1330G>A (n.*1330G>A)
 gnomAD v4
19g.18869247_18869248insGCCCA2499225424CERS1,GDF1c.*738_*739insGCG (n.*738_*739insGCG)
c.469_470insGCG (p.Ala156_Ala157insGly)
c.*1330_*1331insGCG (n.*1330_*1331insGCG)
 ClinVar dbSNP
19g.18869248C>ACA506118741CERS1,GDF1c.*737G>T (n.*737G>T)
c.468G>T (p.Ala156=)
c.*1329G>T (n.*1329G>T)
 gnomAD v4
19g.18869248C=CA2326567787CERS1,GDF1c.*737G= (n.*737G=)
c.468G= (p.Ala156=)
c.*1329G= (n.*1329G=)
19g.18869248C>GCA506118743CERS1,GDF1c.*737G>C (n.*737G>C)
c.468G>C (p.Ala156=)
c.*1329G>C (n.*1329G>C)
19g.18869248C>TCA506118744CERS1,GDF1c.*737G>A (n.*737G>A)
c.468G>A (p.Ala156=)
c.*1329G>A (n.*1329G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869249G>ACA404863218CERS1,GDF1c.*736C>T (n.*736C>T)
c.467C>T (p.Ala156Val)
c.*1328C>T (n.*1328C>T)
 gnomAD v4
19g.18869249G>CCA9317928CERS1,GDF1c.*736C>G (n.*736C>G)
c.467C>G (p.Ala156Gly)
c.*1328C>G (n.*1328C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869249G=CA2326567788CERS1,GDF1c.*736C= (n.*736C=)
c.467C= (p.Ala156=)
c.*1328C= (n.*1328C=)
19g.18869249G>TCA404863217CERS1,GDF1c.*736C>A (n.*736C>A)
c.467C>A (p.Ala156Glu)
c.*1328C>A (n.*1328C>A)
19g.18869250C>ACA404863219CERS1,GDF1c.*735G>T (n.*735G>T)
c.466G>T (p.Ala156Ser)
c.*1327G>T (n.*1327G>T)
 gnomAD v4
19g.18869250C>GCA404863220CERS1,GDF1c.*735G>C (n.*735G>C)
c.466G>C (p.Ala156Pro)
c.*1327G>C (n.*1327G>C)
19g.18869250C>TCA404863221CERS1,GDF1c.*735G>A (n.*735G>A)
c.466G>A (p.Ala156Thr)
c.*1327G>A (n.*1327G>A)
 gnomAD v4
19g.18869251_18869252insCCCCA2735826574CERS1,GDF1c.*735_*736insGGG (n.*735_*736insGGG)
c.466_467insGGG (p.Ala155_Ala156insGly)
c.*1327_*1328insGGG (n.*1327_*1328insGGG)
 dbSNP
19g.18869251_18869252insTCCCA2735826461CERS1,GDF1c.*735_*736insAGG (n.*735_*736insAGG)
c.466_467insAGG (p.Ala155_Ala156insGlu)
c.*1327_*1328insAGG (n.*1327_*1328insAGG)
 dbSNP
19g.18869251C>ACA506118751CERS1,GDF1c.*734G>T (n.*734G>T)
c.465G>T (p.Ala155=)
c.*1326G>T (n.*1326G>T)
19g.18869251C=CA2326567789CERS1,GDF1c.*734G= (n.*734G=)
c.465G= (p.Ala155=)
c.*1326G= (n.*1326G=)
19g.18869251C>GCA506118747CERS1,GDF1c.*734G>C (n.*734G>C)
c.465G>C (p.Ala155=)
c.*1326G>C (n.*1326G>C)
 gnomAD v4
19g.18869251C>TCA506118749CERS1,GDF1c.*734G>A (n.*734G>A)
c.465G>A (p.Ala155=)
c.*1326G>A (n.*1326G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869252G>ACA306231798CERS1,GDF1c.*733C>T (n.*733C>T)
c.464C>T (p.Ala155Val)
c.*1325C>T (n.*1325C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869252G>CCA404863222CERS1,GDF1c.*733C>G (n.*733C>G)
c.464C>G (p.Ala155Gly)
c.*1325C>G (n.*1325C>G)
19g.18869252G=CA2326567790CERS1,GDF1c.*733C= (n.*733C=)
c.464C= (p.Ala155=)
c.*1325C= (n.*1325C=)
19g.18869252G>TCA404863223CERS1,GDF1c.*733C>A (n.*733C>A)
c.464C>A (p.Ala155Glu)
c.*1325C>A (n.*1325C>A)
19g.18869253C>ACA404863224CERS1,GDF1c.*732G>T (n.*732G>T)
c.463G>T (p.Ala155Ser)
c.*1324G>T (n.*1324G>T)
 gnomAD v4
19g.18869253C>GCA404863226CERS1,GDF1c.*732G>C (n.*732G>C)
c.463G>C (p.Ala155Pro)
c.*1324G>C (n.*1324G>C)
19g.18869253C>TCA404863225CERS1,GDF1c.*732G>A (n.*732G>A)
c.463G>A (p.Ala155Thr)
c.*1324G>A (n.*1324G>A)
19g.18869254C>ACA506118757CERS1,GDF1c.*731G>T (n.*731G>T)
c.462G>T (p.Ala154=)
c.*1323G>T (n.*1323G>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869254C=CA2326567791CERS1,GDF1c.*731G= (n.*731G=)
c.462G= (p.Ala154=)
c.*1323G= (n.*1323G=)
19g.18869254C>GCA506118758CERS1,GDF1c.*731G>C (n.*731G>C)
c.462G>C (p.Ala154=)
c.*1323G>C (n.*1323G>C)
19g.18869254C>TCA506118759CERS1,GDF1c.*731G>A (n.*731G>A)
c.462G>A (p.Ala154=)
c.*1323G>A (n.*1323G>A)
 gnomAD v4
19g.18869255G>ACA404863227CERS1,GDF1c.*730C>T (n.*730C>T)
c.461C>T (p.Ala154Val)
c.*1322C>T (n.*1322C>T)
 gnomAD v4
19g.18869255G>CCA404863228CERS1,GDF1c.*730C>G (n.*730C>G)
c.461C>G (p.Ala154Gly)
c.*1322C>G (n.*1322C>G)
19g.18869255G>TCA404863229CERS1,GDF1c.*730C>A (n.*730C>A)
c.461C>A (p.Ala154Glu)
c.*1322C>A (n.*1322C>A)
 gnomAD v4
19g.18869256C>ACA404863230CERS1,GDF1c.*729G>T (n.*729G>T)
c.460G>T (p.Ala154Ser)
c.*1321G>T (n.*1321G>T)
19g.18869256C>GCA404863231CERS1,GDF1c.*729G>C (n.*729G>C)
c.460G>C (p.Ala154Pro)
c.*1321G>C (n.*1321G>C)
19g.18869256C>TCA404863232CERS1,GDF1c.*729G>A (n.*729G>A)
c.460G>A (p.Ala154Thr)
c.*1321G>A (n.*1321G>A)
19g.18869257_18869258insACCCA2735826591CERS1,GDF1c.*729_*730insTGG (n.*729_*730insTGG)
c.460_461insTGG (p.Ala153_Ala154insVal)
c.*1321_*1322insTGG (n.*1321_*1322insTGG)
 dbSNP
19g.18869257C>ACA506118760CERS1,GDF1c.*728G>T (n.*728G>T)
c.459G>T (p.Ala153=)
c.*1320G>T (n.*1320G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869257C=CA2326567792CERS1,GDF1c.*728G= (n.*728G=)
c.459G= (p.Ala153=)
c.*1320G= (n.*1320G=)
19g.18869257C>GCA506118762CERS1,GDF1c.*728G>C (n.*728G>C)
c.459G>C (p.Ala153=)
c.*1320G>C (n.*1320G>C)
19g.18869257C>TCA506118763CERS1,GDF1c.*728G>A (n.*728G>A)
c.459G>A (p.Ala153=)
c.*1320G>A (n.*1320G>A)
 gnomAD v4
19g.18869258_18869259delCA2813841593CERS1,GDF1c.*727_*728del (n.*727_*728del)
c.458_459del (p.Ala153GlyfsTer?)
c.*1319_*1320del (n.*1319_*1320del)
19g.18869258delCA2583634793CERS1,GDF1c.*727del (n.*727del)
c.458del (p.Ala153GlyfsTer13)
c.*1319del (n.*1319del)
 gnomAD v4
19g.18869258G>ACA404863233CERS1,GDF1c.*727C>T (n.*727C>T)
c.458C>T (p.Ala153Val)
c.*1319C>T (n.*1319C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18869258G>CCA404863234CERS1,GDF1c.*727C>G (n.*727C>G)
c.458C>G (p.Ala153Gly)
c.*1319C>G (n.*1319C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18869258G=CA2326567793CERS1,GDF1c.*727C= (n.*727C=)
c.458C= (p.Ala153=)
c.*1319C= (n.*1319C=)
19g.18869258G>TCA404863235CERS1,GDF1c.*727C>A (n.*727C>A)
c.458C>A (p.Ala153Glu)
c.*1319C>A (n.*1319C>A)
19g.18869258_18869263dupCA2583634792CERS1,GDF1c.*722_*727dup (n.*722_*727dup)
c.453_458dup (p.Ala153_Ala154insAlaAla)
c.*1314_*1319dup (n.*1314_*1319dup)
 gnomAD v4
19g.18869259C>ACA404863236CERS1,GDF1c.*726G>T (n.*726G>T)
c.457G>T (p.Ala153Ser)
c.*1318G>T (n.*1318G>T)
 gnomAD v4
19g.18869259C=CA2326567794CERS1,GDF1c.*726G= (n.*726G=)
c.457G= (p.Ala153=)
c.*1318G= (n.*1318G=)
19g.18869259C>GCA404863237CERS1,GDF1c.*726G>C (n.*726G>C)
c.457G>C (p.Ala153Pro)
c.*1318G>C (n.*1318G>C)
19g.18869259C>TCA404863238CERS1,GDF1c.*726G>A (n.*726G>A)
c.457G>A (p.Ala153Thr)
c.*1318G>A (n.*1318G>A)
 gnomAD v4
19g.18869260C>ACA506118768CERS1,GDF1c.*725G>T (n.*725G>T)
c.456G>T (p.Ala152=)
c.*1317G>T (n.*1317G>T)
 gnomAD v4
19g.18869260C=CA2326567795CERS1,GDF1c.*725G= (n.*725G=)
c.456G= (p.Ala152=)
c.*1317G= (n.*1317G=)
19g.18869260C>GCA506118772CERS1,GDF1c.*725G>C (n.*725G>C)
c.456G>C (p.Ala152=)
c.*1317G>C (n.*1317G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18869260C>TCA506118770CERS1,GDF1c.*725G>A (n.*725G>A)
c.456G>A (p.Ala152=)
c.*1317G>A (n.*1317G>A)
 dbSNP gnomAD v4
19g.18869262_18869263insCTTCGCCA306231805CERS1,GDF1c.*725_*726insAAGGCG (n.*725_*726insAAGGCG)
c.456_457insAAGGCG (p.Ala152_Ala153insLysAla)
c.*1317_*1318insAAGGCG (n.*1317_*1318insAAGGCG)
 dbSNP
19g.18869262_18869263delCA2583634794CERS1,GDF1c.*724_*725del (n.*724_*725del)
c.455_456del (p.Ala152GlyfsTer?)
c.*1316_*1317del (n.*1316_*1317del)
 gnomAD v4
19g.18869261G>ACA404863240CERS1,GDF1c.*724C>T (n.*724C>T)
c.455C>T (p.Ala152Val)
c.*1316C>T (n.*1316C>T)
 gnomAD v4
19g.18869261G>CCA306231810CERS1,GDF1c.*724C>G (n.*724C>G)
c.455C>G (p.Ala152Gly)
c.*1316C>G (n.*1316C>G)
 dbSNP
19g.18869261G=CA2326567796CERS1,GDF1c.*724C= (n.*724C=)
c.455C= (p.Ala152=)
c.*1316C= (n.*1316C=)
19g.18869261G>TCA404863239CERS1,GDF1c.*724C>A (n.*724C>A)
c.455C>A (p.Ala152Glu)
c.*1316C>A (n.*1316C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869263_18869272delCA2583634795CERS1,GDF1c.*715_*724del (n.*715_*724del)
c.446_455del (p.Leu149ArgfsTer14)
c.*1307_*1316del (n.*1307_*1316del)
 gnomAD v4
19g.18869262C>ACA404863241CERS1,GDF1c.*723G>T (n.*723G>T)
c.454G>T (p.Ala152Ser)
c.*1315G>T (n.*1315G>T)
 gnomAD v4
19g.18869262C=CA2326567797CERS1,GDF1c.*723G= (n.*723G=)
c.454G= (p.Ala152=)
c.*1315G= (n.*1315G=)
19g.18869262C>GCA404863242CERS1,GDF1c.*723G>C (n.*723G>C)
c.454G>C (p.Ala152Pro)
c.*1315G>C (n.*1315G>C)
19g.18869262C>TCA404863243CERS1,GDF1c.*723G>A (n.*723G>A)
c.454G>A (p.Ala152Thr)
c.*1315G>A (n.*1315G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869263G>ACA506118775CERS1,GDF1c.*722C>T (n.*722C>T)
c.453C>T (p.Phe151=)
c.*1314C>T (n.*1314C>T)
 gnomAD v4
19g.18869263G>CCA404863244CERS1,GDF1c.*722C>G (n.*722C>G)
c.453C>G (p.Phe151Leu)
c.*1314C>G (n.*1314C>G)
 dbSNP gnomAD v4
19g.18869263G=CA2326567798CERS1,GDF1c.*722C= (n.*722C=)
c.453C= (p.Phe151=)
c.*1314C= (n.*1314C=)
19g.18869263G>TCA404863245CERS1,GDF1c.*722C>A (n.*722C>A)
c.453C>A (p.Phe151Leu)
c.*1314C>A (n.*1314C>A)
 gnomAD v4
19g.18869264A>CCA404863246CERS1,GDF1c.*721T>G (n.*721T>G)
c.452T>G (p.Phe151Cys)
c.*1313T>G (n.*1313T>G)
 gnomAD v4
19g.18869264A>GCA404863247CERS1,GDF1c.*721T>C (n.*721T>C)
c.452T>C (p.Phe151Ser)
c.*1313T>C (n.*1313T>C)
19g.18869264A>TCA404863248CERS1,GDF1c.*721T>A (n.*721T>A)
c.452T>A (p.Phe151Tyr)
c.*1313T>A (n.*1313T>A)
 gnomAD v4
19g.18869265A>CCA404863249CERS1,GDF1c.*720T>G (n.*720T>G)
c.451T>G (p.Phe151Val)
c.*1312T>G (n.*1312T>G)
19g.18869265A>GCA404863250CERS1,GDF1c.*720T>C (n.*720T>C)
c.451T>C (p.Phe151Leu)
c.*1312T>C (n.*1312T>C)
 gnomAD v4
19g.18869265A>TCA404863251CERS1,GDF1c.*720T>A (n.*720T>A)
c.451T>A (p.Phe151Ile)
c.*1312T>A (n.*1312T>A)
19g.18869266A>CCA506118778CERS1,GDF1c.*719T>G (n.*719T>G)
c.450T>G (p.Arg150=)
c.*1311T>G (n.*1311T>G)
19g.18869266A>GCA506118780CERS1,GDF1c.*719T>C (n.*719T>C)
c.450T>C (p.Arg150=)
c.*1311T>C (n.*1311T>C)
 gnomAD v4
19g.18869266A>TCA506118779CERS1,GDF1c.*719T>A (n.*719T>A)
c.450T>A (p.Arg150=)
c.*1311T>A (n.*1311T>A)
19g.18869267delCA2583634796CERS1,GDF1c.*718del (n.*718del)
c.449del (p.Arg150LeufsTer16)
c.*1310del (n.*1310del)
 gnomAD v4
19g.18869267C>ACA404863254CERS1,GDF1c.*718G>T (n.*718G>T)
c.449G>T (p.Arg150Leu)
c.*1310G>T (n.*1310G>T)
 dbSNP gnomAD v4
19g.18869267C=CA2326567799CERS1,GDF1c.*718G= (n.*718G=)
c.449G= (p.Arg150=)
c.*1310G= (n.*1310G=)
19g.18869267C>GCA404863253CERS1,GDF1c.*718G>C (n.*718G>C)
c.449G>C (p.Arg150Pro)
c.*1310G>C (n.*1310G>C)
 gnomAD v4
19g.18869267C>TCA404863252CERS1,GDF1c.*718G>A (n.*718G>A)
c.449G>A (p.Arg150His)
c.*1310G>A (n.*1310G>A)
 gnomAD v4
19g.18869268G>ACA404863256CERS1,GDF1c.*717C>T (n.*717C>T)
c.448C>T (p.Arg150Cys)
c.*1309C>T (n.*1309C>T)
 gnomAD v4
19g.18869268G>CCA404863255CERS1,GDF1c.*717C>G (n.*717C>G)
c.448C>G (p.Arg150Gly)
c.*1309C>G (n.*1309C>G)
19g.18869268G>TCA404863257CERS1,GDF1c.*717C>A (n.*717C>A)
c.448C>A (p.Arg150Ser)
c.*1309C>A (n.*1309C>A)
19g.18869269C>ACA506118784CERS1,GDF1c.*716G>T (n.*716G>T)
c.447G>T (p.Leu149=)
c.*1308G>T (n.*1308G>T)
 dbSNP gnomAD v4
19g.18869269C=CA2326567800CERS1,GDF1c.*716G= (n.*716G=)
c.447G= (p.Leu149=)
c.*1308G= (n.*1308G=)
19g.18869269C>GCA506118785CERS1,GDF1c.*716G>C (n.*716G>C)
c.447G>C (p.Leu149=)
c.*1308G>C (n.*1308G>C)
19g.18869269C>TCA506118786CERS1,GDF1c.*716G>A (n.*716G>A)
c.447G>A (p.Leu149=)
c.*1308G>A (n.*1308G>A)
19g.18869270A>CCA404863258CERS1,GDF1c.*715T>G (n.*715T>G)
c.446T>G (p.Leu149Arg)
c.*1307T>G (n.*1307T>G)
19g.18869270A>GCA404863259CERS1,GDF1c.*715T>C (n.*715T>C)
c.446T>C (p.Leu149Pro)
c.*1307T>C (n.*1307T>C)
 gnomAD v4
19g.18869270A>TCA404863260CERS1,GDF1c.*715T>A (n.*715T>A)
c.446T>A (p.Leu149Gln)
c.*1307T>A (n.*1307T>A)
19g.18869270_18869271insTCGAAACGCCGAAGCCGCTTCCTCGGCGCACCGCGGGCGAAATGCTGGTCA2741617923CERS1,GDF1c.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*714_*715insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA)
c.445_446insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (p.Leu149HisfsTer?)
c.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA (n.*1306_*1307insACCAGCATTTCGCCCGCGGTGCGCCGAGGAAGCGGCTTCGGCGTTTCGA)
19g.18869271G>ACA506118787CERS1,GDF1c.*714C>T (n.*714C>T)
c.445C>T (p.Leu149=)
c.*1306C>T (n.*1306C>T)
 gnomAD v4
19g.18869271G>CCA404863261CERS1,GDF1c.*714C>G (n.*714C>G)
c.445C>G (p.Leu149Val)
c.*1306C>G (n.*1306C>G)
19g.18869271G>TCA404863262CERS1,GDF1c.*714C>A (n.*714C>A)
c.445C>A (p.Leu149Met)
c.*1306C>A (n.*1306C>A)
 gnomAD v4
19g.18869272C>ACA404863263CERS1,GDF1c.*713G>T (n.*713G>T)
c.444G>T (p.Glu148Asp)
c.*1305G>T (n.*1305G>T)
 dbSNP gnomAD v4
19g.18869272C=CA2326567801CERS1,GDF1c.*713G= (n.*713G=)
c.444G= (p.Glu148=)
c.*1305G= (n.*1305G=)
19g.18869272C>GCA404863264CERS1,GDF1c.*713G>C (n.*713G>C)
c.444G>C (p.Glu148Asp)
c.*1305G>C (n.*1305G>C)
19g.18869272C>TCA506118792CERS1,GDF1c.*713G>A (n.*713G>A)
c.444G>A (p.Glu148=)
c.*1305G>A (n.*1305G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869273T>ACA404863265CERS1,GDF1c.*712A>T (n.*712A>T)
c.443A>T (p.Glu148Val)
c.*1304A>T (n.*1304A>T)
19g.18869273T>CCA404863266CERS1,GDF1c.*712A>G (n.*712A>G)
c.443A>G (p.Glu148Gly)
c.*1304A>G (n.*1304A>G)
 gnomAD v4
19g.18869273T>GCA404863267CERS1,GDF1c.*712A>C (n.*712A>C)
c.443A>C (p.Glu148Ala)
c.*1304A>C (n.*1304A>C)
19g.18869274C>ACA404863268CERS1,GDF1c.*711G>T (n.*711G>T)
c.442G>T (p.Glu148Ter)
c.*1303G>T (n.*1303G>T)
 gnomAD v4
19g.18869274C>GCA404863269CERS1,GDF1c.*711G>C (n.*711G>C)
c.442G>C (p.Glu148Gln)
c.*1303G>C (n.*1303G>C)
19g.18869274C>TCA404863270CERS1,GDF1c.*711G>A (n.*711G>A)
c.442G>A (p.Glu148Lys)
c.*1303G>A (n.*1303G>A)
19g.18869275C>ACA506118797CERS1,GDF1c.*710G>T (n.*710G>T)
c.441G>T (p.Leu147=)
c.*1302G>T (n.*1302G>T)
19g.18869275C=CA2326567802CERS1,GDF1c.*710G= (n.*710G=)
c.441G= (p.Leu147=)
c.*1302G= (n.*1302G=)
19g.18869275C>GCA506118798CERS1,GDF1c.*710G>C (n.*710G>C)
c.441G>C (p.Leu147=)
c.*1302G>C (n.*1302G>C)
 gnomAD v4
19g.18869275C>TCA506118800CERS1,GDF1c.*710G>A (n.*710G>A)
c.441G>A (p.Leu147=)
c.*1302G>A (n.*1302G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869276A>CCA404863273CERS1,GDF1c.*709T>G (n.*709T>G)
c.440T>G (p.Leu147Arg)
c.*1301T>G (n.*1301T>G)
19g.18869276A>GCA404863271CERS1,GDF1c.*709T>C (n.*709T>C)
c.440T>C (p.Leu147Pro)
c.*1301T>C (n.*1301T>C)
 gnomAD v4
19g.18869276A>TCA404863272CERS1,GDF1c.*709T>A (n.*709T>A)
c.440T>A (p.Leu147Gln)
c.*1301T>A (n.*1301T>A)
19g.18869277G>ACA506118804CERS1,GDF1c.*708C>T (n.*708C>T)
c.439C>T (p.Leu147=)
c.*1300C>T (n.*1300C>T)
19g.18869277G>CCA404863274CERS1,GDF1c.*708C>G (n.*708C>G)
c.439C>G (p.Leu147Val)
c.*1300C>G (n.*1300C>G)
19g.18869277G>TCA404863275CERS1,GDF1c.*708C>A (n.*708C>A)
c.439C>A (p.Leu147Met)
c.*1300C>A (n.*1300C>A)
 gnomAD v4
19g.18869278G>ACA506118808CERS1,GDF1c.*707C>T (n.*707C>T)
c.438C>T (p.Arg146=)
c.*1299C>T (n.*1299C>T)
 gnomAD v4
19g.18869278G>CCA506118809CERS1,GDF1c.*707C>G (n.*707C>G)
c.438C>G (p.Arg146=)
c.*1299C>G (n.*1299C>G)
19g.18869278G>TCA506118811CERS1,GDF1c.*707C>A (n.*707C>A)
c.438C>A (p.Arg146=)
c.*1299C>A (n.*1299C>A)
19g.18869279C>ACA9317929CERS1,GDF1c.*706G>T (n.*706G>T)
c.437G>T (p.Arg146Leu)
c.*1298G>T (n.*1298G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869279C=CA2326567803CERS1,GDF1c.*706G= (n.*706G=)
c.437G= (p.Arg146=)
c.*1298G= (n.*1298G=)
19g.18869279C>GCA404863276CERS1,GDF1c.*706G>C (n.*706G>C)
c.437G>C (p.Arg146Pro)
c.*1298G>C (n.*1298G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869279C>TCA404863277CERS1,GDF1c.*706G>A (n.*706G>A)
c.437G>A (p.Arg146His)
c.*1298G>A (n.*1298G>A)
 ClinVar dbSNP gnomAD v4
19g.18869280G>ACA404863278CERS1,GDF1c.*705C>T (n.*705C>T)
c.436C>T (p.Arg146Cys)
c.*1297C>T (n.*1297C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869280G>CCA404863279CERS1,GDF1c.*705C>G (n.*705C>G)
c.436C>G (p.Arg146Gly)
c.*1297C>G (n.*1297C>G)
19g.18869280G=CA2326567804CERS1,GDF1c.*705C= (n.*705C=)
c.436C= (p.Arg146=)
c.*1297C= (n.*1297C=)
19g.18869280G>TCA404863280CERS1,GDF1c.*705C>A (n.*705C>A)
c.436C>A (p.Arg146Ser)
c.*1297C>A (n.*1297C>A)
19g.18869282delCA2583634797CERS1,GDF1c.*705del (n.*705del)
c.436del (p.Arg146AlafsTer20)
c.*1297del (n.*1297del)
 gnomAD v4
19g.18869281G>ACA506118816CERS1,GDF1c.*704C>T (n.*704C>T)
c.435C>T (p.Ala145=)
c.*1296C>T (n.*1296C>T)
 dbSNP gnomAD v4
19g.18869281G>CCA506118817CERS1,GDF1c.*704C>G (n.*704C>G)
c.435C>G (p.Ala145=)
c.*1296C>G (n.*1296C>G)
19g.18869281G=CA2326567805CERS1,GDF1c.*704C= (n.*704C=)
c.435C= (p.Ala145=)
c.*1296C= (n.*1296C=)
19g.18869281G>TCA506118815CERS1,GDF1c.*704C>A (n.*704C>A)
c.435C>A (p.Ala145=)
c.*1296C>A (n.*1296C>A)
 gnomAD v4
19g.18869282G>ACA404863281CERS1,GDF1c.*703C>T (n.*703C>T)
c.434C>T (p.Ala145Val)
c.*1295C>T (n.*1295C>T)
 gnomAD v4
19g.18869282G>CCA404863282CERS1,GDF1c.*703C>G (n.*703C>G)
c.434C>G (p.Ala145Gly)
c.*1295C>G (n.*1295C>G)
19g.18869282G>TCA404863283CERS1,GDF1c.*703C>A (n.*703C>A)
c.434C>A (p.Ala145Asp)
c.*1295C>A (n.*1295C>A)
 gnomAD v4
19g.18869283C>ACA404863286CERS1,GDF1c.*702G>T (n.*702G>T)
c.433G>T (p.Ala145Ser)
c.*1294G>T (n.*1294G>T)
 dbSNP gnomAD v4
19g.18869283C=CA2326567806CERS1,GDF1c.*702G= (n.*702G=)
c.433G= (p.Ala145=)
c.*1294G= (n.*1294G=)
19g.18869283C>GCA404863285CERS1,GDF1c.*702G>C (n.*702G>C)
c.433G>C (p.Ala145Pro)
c.*1294G>C (n.*1294G>C)
19g.18869283C>TCA404863284CERS1,GDF1c.*702G>A (n.*702G>A)
c.433G>A (p.Ala145Thr)
c.*1294G>A (n.*1294G>A)
 gnomAD v4
19g.18869284C>ACA506118827CERS1,GDF1c.*701G>T (n.*701G>T)
c.432G>T (p.Arg144=)
c.*1293G>T (n.*1293G>T)
19g.18869284C=CA2326567807CERS1,GDF1c.*701G= (n.*701G=)
c.432G= (p.Arg144=)
c.*1293G= (n.*1293G=)
19g.18869284C>GCA506118823CERS1,GDF1c.*701G>C (n.*701G>C)
c.432G>C (p.Arg144=)
c.*1293G>C (n.*1293G>C)
19g.18869284C>TCA506118824CERS1,GDF1c.*701G>A (n.*701G>A)
c.432G>A (p.Arg144=)
c.*1293G>A (n.*1293G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869285C>ACA404863287CERS1,GDF1c.*700G>T (n.*700G>T)
c.431G>T (p.Arg144Leu)
c.*1292G>T (n.*1292G>T)
 dbSNP gnomAD v4
19g.18869285C=CA2326567808CERS1,GDF1c.*700G= (n.*700G=)
c.431G= (p.Arg144=)
c.*1292G= (n.*1292G=)
19g.18869285C>GCA404863288CERS1,GDF1c.*700G>C (n.*700G>C)
c.431G>C (p.Arg144Pro)
c.*1292G>C (n.*1292G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.18869285C>TCA9317930CERS1,GDF1c.*700G>A (n.*700G>A)
c.431G>A (p.Arg144Gln)
c.*1292G>A (n.*1292G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869286G>ACA9317931CERS1,GDF1c.*699C>T (n.*699C>T)
c.430C>T (p.Arg144Trp)
c.*1291C>T (n.*1291C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869286G>CCA404863289CERS1,GDF1c.*699C>G (n.*699C>G)
c.430C>G (p.Arg144Gly)
c.*1291C>G (n.*1291C>G)
19g.18869286G=CA2326567809CERS1,GDF1c.*699C= (n.*699C=)
c.430C= (p.Arg144=)
c.*1291C= (n.*1291C=)
19g.18869286G>TCA506118828CERS1,GDF1c.*699C>A (n.*699C>A)
c.430C>A (p.Arg144=)
c.*1291C>A (n.*1291C>A)
 gnomAD v4
19g.18869287G>ACA506118829CERS1,GDF1c.*698C>T (n.*698C>T)
c.429C>T (p.Ser143=)
c.*1290C>T (n.*1290C>T)
 gnomAD v4
19g.18869287G>CCA404863290CERS1,GDF1c.*698C>G (n.*698C>G)
c.429C>G (p.Ser143Arg)
c.*1290C>G (n.*1290C>G)
 dbSNP gnomAD v2 gnomAD v4
19g.18869287G=CA2326567810CERS1,GDF1c.*698C= (n.*698C=)
c.429C= (p.Ser143=)
c.*1290C= (n.*1290C=)
19g.18869287G>TCA404863291CERS1,GDF1c.*698C>A (n.*698C>A)
c.429C>A (p.Ser143Arg)
c.*1290C>A (n.*1290C>A)
 gnomAD v4
19g.18869288C>ACA404863292CERS1,GDF1c.*697G>T (n.*697G>T)
c.428G>T (p.Ser143Ile)
c.*1289G>T (n.*1289G>T)
 gnomAD v4
19g.18869288C=CA2326567811CERS1,GDF1c.*697G= (n.*697G=)
c.428G= (p.Ser143=)
c.*1289G= (n.*1289G=)
19g.18869288C>GCA404863294CERS1,GDF1c.*697G>C (n.*697G>C)
c.428G>C (p.Ser143Thr)
c.*1289G>C (n.*1289G>C)
19g.18869288C>TCA404863293CERS1,GDF1c.*697G>A (n.*697G>A)
c.428G>A (p.Ser143Asn)
c.*1289G>A (n.*1289G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869289T>ACA404863295CERS1,GDF1c.*696A>T (n.*696A>T)
c.427A>T (p.Ser143Cys)
c.*1288A>T (n.*1288A>T)
19g.18869289T>CCA404863296CERS1,GDF1c.*696A>G (n.*696A>G)
c.427A>G (p.Ser143Gly)
c.*1288A>G (n.*1288A>G)
 dbSNP
19g.18869289T>GCA404863297CERS1,GDF1c.*696A>C (n.*696A>C)
c.427A>C (p.Ser143Arg)
c.*1288A>C (n.*1288A>C)
19g.18869289T=CA2326567812CERS1,GDF1c.*696A= (n.*696A=)
c.427A= (p.Ser143=)
c.*1288A= (n.*1288A=)
19g.18869290C>ACA506118834CERS1,GDF1c.*695G>T (n.*695G>T)
c.426G>T (p.Pro142=)
c.*1287G>T (n.*1287G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.18869290C=CA2326567813CERS1,GDF1c.*695G= (n.*695G=)
c.426G= (p.Pro142=)
c.*1287G= (n.*1287G=)
19g.18869290C>GCA506118835CERS1,GDF1c.*695G>C (n.*695G>C)
c.426G>C (p.Pro142=)
c.*1287G>C (n.*1287G>C)
19g.18869290C>TCA9317932CERS1,GDF1c.*695G>A (n.*695G>A)
c.426G>A (p.Pro142=)
c.*1287G>A (n.*1287G>A)
 dbSNP ExAC gnomAD v4
19g.18869291G>ACA404863298CERS1,GDF1c.*694C>T (n.*694C>T)
c.425C>T (p.Pro142Leu)
c.*1286C>T (n.*1286C>T)
 gnomAD v4
19g.18869291G>CCA404863300CERS1,GDF1c.*694C>G (n.*694C>G)
c.425C>G (p.Pro142Arg)
c.*1286C>G (n.*1286C>G)
 gnomAD v4
19g.18869291G>TCA404863299CERS1,GDF1c.*694C>A (n.*694C>A)
c.425C>A (p.Pro142Gln)
c.*1286C>A (n.*1286C>A)
 gnomAD v4
19g.18869292G>ACA306231820CERS1,GDF1c.*693C>T (n.*693C>T)
c.424C>T (p.Pro142Ser)
c.*1285C>T (n.*1285C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869292G>CCA404863301CERS1,GDF1c.*693C>G (n.*693C>G)
c.424C>G (p.Pro142Ala)
c.*1285C>G (n.*1285C>G)
19g.18869292G=CA2326567814CERS1,GDF1c.*693C= (n.*693C=)
c.424C= (p.Pro142=)
c.*1285C= (n.*1285C=)
19g.18869292G>TCA404863302CERS1,GDF1c.*693C>A (n.*693C>A)
c.424C>A (p.Pro142Thr)
c.*1285C>A (n.*1285C>A)
19g.18869293G>ACA506118841CERS1,GDF1c.*692C>T (n.*692C>T)
c.423C>T (p.Arg141=)
c.*1284C>T (n.*1284C>T)
 dbSNP gnomAD v4
19g.18869293G>CCA506118842CERS1,GDF1c.*692C>G (n.*692C>G)
c.423C>G (p.Arg141=)
c.*1284C>G (n.*1284C>G)
19g.18869293G=CA2326567815CERS1,GDF1c.*692C= (n.*692C=)
c.423C= (p.Arg141=)
c.*1284C= (n.*1284C=)
19g.18869293G>TCA506118843CERS1,GDF1c.*692C>A (n.*692C>A)
c.423C>A (p.Arg141=)
c.*1284C>A (n.*1284C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869294C>ACA404863303CERS1,GDF1c.*691G>T (n.*691G>T)
c.422G>T (p.Arg141Leu)
c.*1283G>T (n.*1283G>T)
 gnomAD v4
19g.18869294C=CA2326567816CERS1,GDF1c.*691G= (n.*691G=)
c.422G= (p.Arg141=)
c.*1283G= (n.*1283G=)
19g.18869294C>GCA404863304CERS1,GDF1c.*691G>C (n.*691G>C)
c.422G>C (p.Arg141Pro)
c.*1283G>C (n.*1283G>C)
19g.18869294C>TCA404863305CERS1,GDF1c.*691G>A (n.*691G>A)
c.422G>A (p.Arg141His)
c.*1283G>A (n.*1283G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869295G>ACA306231841CERS1,GDF1c.*690C>T (n.*690C>T)
c.421C>T (p.Arg141Cys)
c.*1282C>T (n.*1282C>T)
 dbSNP gnomAD v4
19g.18869295G>CCA404863306CERS1,GDF1c.*690C>G (n.*690C>G)
c.421C>G (p.Arg141Gly)
c.*1282C>G (n.*1282C>G)
 gnomAD v4
19g.18869295G=CA2326567817CERS1,GDF1c.*690C= (n.*690C=)
c.421C= (p.Arg141=)
c.*1282C= (n.*1282C=)
19g.18869295G>TCA404863307CERS1,GDF1c.*690C>A (n.*690C>A)
c.421C>A (p.Arg141Ser)
c.*1282C>A (n.*1282C>A)
 gnomAD v4
19g.18869296C>ACA404863308CERS1,GDF1c.*689G>T (n.*689G>T)
c.420G>T (p.Glu140Asp)
c.*1281G>T (n.*1281G>T)
 gnomAD v4
19g.18869296C=CA2326567818CERS1,GDF1c.*689G= (n.*689G=)
c.420G= (p.Glu140=)
c.*1281G= (n.*1281G=)
19g.18869296C>GCA404863309CERS1,GDF1c.*689G>C (n.*689G>C)
c.420G>C (p.Glu140Asp)
c.*1281G>C (n.*1281G>C)
19g.18869296C>TCA506118847CERS1,GDF1c.*689G>A (n.*689G>A)
c.420G>A (p.Glu140=)
c.*1281G>A (n.*1281G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869297T>ACA404863311CERS1,GDF1c.*688A>T (n.*688A>T)
c.419A>T (p.Glu140Val)
c.*1280A>T (n.*1280A>T)
19g.18869297T>CCA404863312CERS1,GDF1c.*688A>G (n.*688A>G)
c.419A>G (p.Glu140Gly)
c.*1280A>G (n.*1280A>G)
 gnomAD v4
19g.18869297T>GCA404863310CERS1,GDF1c.*688A>C (n.*688A>C)
c.419A>C (p.Glu140Ala)
c.*1280A>C (n.*1280A>C)
19g.18869298C>ACA404863313CERS1,GDF1c.*687G>T (n.*687G>T)
c.418G>T (p.Glu140Ter)
c.*1279G>T (n.*1279G>T)
 dbSNP gnomAD v4
19g.18869298C=CA2326567819CERS1,GDF1c.*687G= (n.*687G=)
c.418G= (p.Glu140=)
c.*1279G= (n.*1279G=)
19g.18869298C>GCA404863315CERS1,GDF1c.*687G>C (n.*687G>C)
c.418G>C (p.Glu140Gln)
c.*1279G>C (n.*1279G>C)
 ClinVar
19g.18869298C>TCA404863314CERS1,GDF1c.*687G>A (n.*687G>A)
c.418G>A (p.Glu140Lys)
c.*1279G>A (n.*1279G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869299A>CCA506118155CERS1,GDF1c.*686T>G (n.*686T>G)
c.417T>G (p.Ala139=)
c.*1278T>G (n.*1278T>G)
19g.18869299A>GCA506118156CERS1,GDF1c.*686T>C (n.*686T>C)
c.417T>C (p.Ala139=)
c.*1278T>C (n.*1278T>C)
 gnomAD v4
19g.18869299A>TCA506118157CERS1,GDF1c.*686T>A (n.*686T>A)
c.417T>A (p.Ala139=)
c.*1278T>A (n.*1278T>A)
 gnomAD v4
19g.18869300G>ACA404863316CERS1,GDF1c.*685C>T (n.*685C>T)
c.416C>T (p.Ala139Val)
c.*1277C>T (n.*1277C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869300G>CCA404863318CERS1,GDF1c.*685C>G (n.*685C>G)
c.416C>G (p.Ala139Gly)
c.*1277C>G (n.*1277C>G)
19g.18869300G=CA2326567820CERS1,GDF1c.*685C= (n.*685C=)
c.416C= (p.Ala139=)
c.*1277C= (n.*1277C=)
19g.18869300G>TCA404863317CERS1,GDF1c.*685C>A (n.*685C>A)
c.416C>A (p.Ala139Asp)
c.*1277C>A (n.*1277C>A)
 gnomAD v4
19g.18869301C>ACA404863319CERS1,GDF1c.*684G>T (n.*684G>T)
c.415G>T (p.Ala139Ser)
c.*1276G>T (n.*1276G>T)
 gnomAD v4
19g.18869301C>GCA404863321CERS1,GDF1c.*684G>C (n.*684G>C)
c.415G>C (p.Ala139Pro)
c.*1276G>C (n.*1276G>C)
19g.18869301C>TCA404863320CERS1,GDF1c.*684G>A (n.*684G>A)
c.415G>A (p.Ala139Thr)
c.*1276G>A (n.*1276G>A)
 gnomAD v4
19g.18869302G>ACA306231848CERS1,GDF1c.*683C>T (n.*683C>T)
c.414C>T (p.Pro138=)
c.*1275C>T (n.*1275C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869302G>CCA506118162CERS1,GDF1c.*683C>G (n.*683C>G)
c.414C>G (p.Pro138=)
c.*1275C>G (n.*1275C>G)
 dbSNP
19g.18869302G=CA2326567821CERS1,GDF1c.*683C= (n.*683C=)
c.414C= (p.Pro138=)
c.*1275C= (n.*1275C=)
19g.18869302G>TCA506118164CERS1,GDF1c.*683C>A (n.*683C>A)
c.414C>A (p.Pro138=)
c.*1275C>A (n.*1275C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869304dupCA2813841594CERS1,GDF1c.*683dup (n.*683dup)
c.414dup (p.Ala139ArgfsTer2)
c.*1275dup (n.*1275dup)
19g.18869303G>ACA404863322CERS1,GDF1c.*682C>T (n.*682C>T)
c.413C>T (p.Pro138Leu)
c.*1274C>T (n.*1274C>T)
 gnomAD v4
19g.18869303G>CCA404863323CERS1,GDF1c.*682C>G (n.*682C>G)
c.413C>G (p.Pro138Arg)
c.*1274C>G (n.*1274C>G)
19g.18869303G>TCA404863324CERS1,GDF1c.*682C>A (n.*682C>A)
c.413C>A (p.Pro138His)
c.*1274C>A (n.*1274C>A)
 gnomAD v4
19g.18869304G>ACA404863325CERS1,GDF1c.*681C>T (n.*681C>T)
c.412C>T (p.Pro138Ser)
c.*1273C>T (n.*1273C>T)
 gnomAD v4
19g.18869304G>CCA404863326CERS1,GDF1c.*681C>G (n.*681C>G)
c.412C>G (p.Pro138Ala)
c.*1273C>G (n.*1273C>G)
19g.18869304G=CA2326567822CERS1,GDF1c.*681C= (n.*681C=)
c.412C= (p.Pro138=)
c.*1273C= (n.*1273C=)
19g.18869304G>TCA9317933CERS1,GDF1c.*681C>A (n.*681C>A)
c.412C>A (p.Pro138Thr)
c.*1273C>A (n.*1273C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869305T>ACA404863327CERS1,GDF1c.*680A>T (n.*680A>T)
c.411A>T (p.Glu137Asp)
c.*1272A>T (n.*1272A>T)
19g.18869305T>CCA506118166CERS1,GDF1c.*680A>G (n.*680A>G)
c.411A>G (p.Glu137=)
c.*1272A>G (n.*1272A>G)
 gnomAD v4
19g.18869305T>GCA306231859CERS1,GDF1c.*680A>C (n.*680A>C)
c.411A>C (p.Glu137Asp)
c.*1272A>C (n.*1272A>C)
 dbSNP
19g.18869305T=CA2326567823CERS1,GDF1c.*680A= (n.*680A=)
c.411A= (p.Glu137=)
c.*1272A= (n.*1272A=)
19g.18869306T>ACA404863328CERS1,GDF1c.*679A>T (n.*679A>T)
c.410A>T (p.Glu137Val)
c.*1271A>T (n.*1271A>T)
19g.18869306T>CCA404863329CERS1,GDF1c.*679A>G (n.*679A>G)
c.410A>G (p.Glu137Gly)
c.*1271A>G (n.*1271A>G)
 dbSNP
19g.18869306T>GCA404863330CERS1,GDF1c.*679A>C (n.*679A>C)
c.410A>C (p.Glu137Ala)
c.*1271A>C (n.*1271A>C)
19g.18869306T=CA2326567824CERS1,GDF1c.*679A= (n.*679A=)
c.410A= (p.Glu137=)
c.*1271A= (n.*1271A=)
19g.18869306_18869307delinsTCCA2326567825CERS1,GDF1c.*678_*679delinsGA (n.*678_*679delinsGA)
c.409_410delinsGA (p.Glu137=)
c.*1270_*1271delinsGA (n.*1270_*1271delinsGA)
19g.18869307C>ACA404863331CERS1,GDF1c.*678G>T (n.*678G>T)
c.409G>T (p.Glu137Ter)
c.*1270G>T (n.*1270G>T)
19g.18869307C=CA2326567827CERS1,GDF1c.*678G= (n.*678G=)
c.409G= (p.Glu137=)
c.*1270G= (n.*1270G=)
19g.18869307C>GCA404863333CERS1,GDF1c.*678G>C (n.*678G>C)
c.409G>C (p.Glu137Gln)
c.*1270G>C (n.*1270G>C)
19g.18869307C>TCA404863332CERS1,GDF1c.*678G>A (n.*678G>A)
c.409G>A (p.Glu137Lys)
c.*1270G>A (n.*1270G>A)
 dbSNP
19g.18869308delCA2326567826CERS1,GDF1c.*678del (n.*678del)
c.409del (p.Glu137AsnfsTer29)
c.*1270del (n.*1270del)
 dbSNP
19g.18869308_18869314delCA2583634798CERS1,GDF1c.*672_*678del (n.*672_*678del)
c.403_409del (p.Ala135AsnfsTer29)
c.*1264_*1270del (n.*1264_*1270del)
 gnomAD v4
19g.18869308C>ACA506118172CERS1,GDF1c.*677G>T (n.*677G>T)
c.408G>T (p.Val136=)
c.*1269G>T (n.*1269G>T)
 gnomAD v4
19g.18869308C=CA2326567828CERS1,GDF1c.*677G= (n.*677G=)
c.408G= (p.Val136=)
c.*1269G= (n.*1269G=)
19g.18869308C>GCA506118173CERS1,GDF1c.*677G>C (n.*677G>C)
c.408G>C (p.Val136=)
c.*1269G>C (n.*1269G>C)
19g.18869308C>TCA506118174CERS1,GDF1c.*677G>A (n.*677G>A)
c.408G>A (p.Val136=)
c.*1269G>A (n.*1269G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869309A=CA2326567829CERS1,GDF1c.*676T= (n.*676T=)
c.407T= (p.Val136=)
c.*1268T= (n.*1268T=)
19g.18869309A>CCA404863334CERS1,GDF1c.*676T>G (n.*676T>G)
c.407T>G (p.Val136Gly)
c.*1268T>G (n.*1268T>G)
19g.18869309A>GCA306231861CERS1,GDF1c.*676T>C (n.*676T>C)
c.407T>C (p.Val136Ala)
c.*1268T>C (n.*1268T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.18869309A>TCA404863335CERS1,GDF1c.*676T>A (n.*676T>A)
c.407T>A (p.Val136Glu)
c.*1268T>A (n.*1268T>A)
19g.18869310C>ACA404863336CERS1,GDF1c.*675G>T (n.*675G>T)
c.406G>T (p.Val136Leu)
c.*1267G>T (n.*1267G>T)
 gnomAD v4
19g.18869310C>GCA404863337CERS1,GDF1c.*675G>C (n.*675G>C)
c.406G>C (p.Val136Leu)
c.*1267G>C (n.*1267G>C)
19g.18869310C>TCA404863338CERS1,GDF1c.*675G>A (n.*675G>A)
c.406G>A (p.Val136Met)
c.*1267G>A (n.*1267G>A)
 gnomAD v4
19g.18869311A>CCA506118182CERS1,GDF1c.*674T>G (n.*674T>G)
c.405T>G (p.Ala135=)
c.*1266T>G (n.*1266T>G)
19g.18869311A>GCA506118183CERS1,GDF1c.*674T>C (n.*674T>C)
c.405T>C (p.Ala135=)
c.*1266T>C (n.*1266T>C)
 gnomAD v4
19g.18869311A>TCA506118184CERS1,GDF1c.*674T>A (n.*674T>A)
c.405T>A (p.Ala135=)
c.*1266T>A (n.*1266T>A)
 gnomAD v4
19g.18869312G>ACA16616030CERS1,GDF1c.*673C>T (n.*673C>T)
c.404C>T (p.Ala135Val)
c.*1265C>T (n.*1265C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869312G>CCA404863339CERS1,GDF1c.*673C>G (n.*673C>G)
c.404C>G (p.Ala135Gly)
c.*1265C>G (n.*1265C>G)
 gnomAD v4
19g.18869312G=CA2326567830CERS1,GDF1c.*673C= (n.*673C=)
c.404C= (p.Ala135=)
c.*1265C= (n.*1265C=)
19g.18869312G>TCA404863340CERS1,GDF1c.*673C>A (n.*673C>A)
c.404C>A (p.Ala135Asp)
c.*1265C>A (n.*1265C>A)
19g.18869313C>ACA404863342CERS1,GDF1c.*672G>T (n.*672G>T)
c.403G>T (p.Ala135Ser)
c.*1264G>T (n.*1264G>T)
 gnomAD v4
19g.18869313C=CA2326567831CERS1,GDF1c.*672G= (n.*672G=)
c.403G= (p.Ala135=)
c.*1264G= (n.*1264G=)
19g.18869313C>GCA404863343CERS1,GDF1c.*672G>C (n.*672G>C)
c.403G>C (p.Ala135Pro)
c.*1264G>C (n.*1264G>C)
19g.18869313C>TCA404863341CERS1,GDF1c.*672G>A (n.*672G>A)
c.403G>A (p.Ala135Thr)
c.*1264G>A (n.*1264G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.18869314C>ACA506118189CERS1,GDF1c.*671G>T (n.*671G>T)
c.402G>T (p.Ser134=)
c.*1263G>T (n.*1263G>T)
19g.18869314C=CA2326567832CERS1,GDF1c.*671G= (n.*671G=)
c.402G= (p.Ser134=)
c.*1263G= (n.*1263G=)
19g.18869314C>GCA506118193CERS1,GDF1c.*671G>C (n.*671G>C)
c.402G>C (p.Ser134=)
c.*1263G>C (n.*1263G>C)
 gnomAD v4
19g.18869314C>TCA506118191CERS1,GDF1c.*671G>A (n.*671G>A)
c.402G>A (p.Ser134=)
c.*1263G>A (n.*1263G>A)
 dbSNP gnomAD v4
19g.18869315G>ACA404863344CERS1,GDF1c.*670C>T (n.*670C>T)
c.401C>T (p.Ser134Leu)
c.*1262C>T (n.*1262C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869315G>CCA16620817CERS1,GDF1c.*670C>G (n.*670C>G)
c.401C>G (p.Ser134Trp)
c.*1262C>G (n.*1262C>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.18869315G=CA2326567833CERS1,GDF1c.*670C= (n.*670C=)
c.401C= (p.Ser134=)
c.*1262C= (n.*1262C=)
19g.18869315G>TCA404863345CERS1,GDF1c.*670C>A (n.*670C>A)
c.401C>A (p.Ser134Ter)
c.*1262C>A (n.*1262C>A)
 gnomAD v4
19g.18869315dupCA2576726652CERS1,GDF1c.*670dup (n.*670dup)
c.401dup (p.Ala135GlyfsTer6)
c.*1262dup (n.*1262dup)
19g.18869316A>CCA404863346CERS1,GDF1c.*669T>G (n.*669T>G)
c.400T>G (p.Ser134Ala)
c.*1261T>G (n.*1261T>G)
19g.18869316A>GCA404863347CERS1,GDF1c.*669T>C (n.*669T>C)
c.400T>C (p.Ser134Pro)
c.*1261T>C (n.*1261T>C)
 gnomAD v4
19g.18869316A>TCA404863348CERS1,GDF1c.*669T>A (n.*669T>A)
c.400T>A (p.Ser134Thr)
c.*1261T>A (n.*1261T>A)
19g.18869317C>ACA506118201CERS1,GDF1c.*668G>T (n.*668G>T)
c.399G>T (p.Leu133=)
c.*1260G>T (n.*1260G>T)
 gnomAD v4
19g.18869317C=CA2326567834CERS1,GDF1c.*668G= (n.*668G=)
c.399G= (p.Leu133=)
c.*1260G= (n.*1260G=)
19g.18869317C>GCA506118202CERS1,GDF1c.*668G>C (n.*668G>C)
c.399G>C (p.Leu133=)
c.*1260G>C (n.*1260G>C)
19g.18869317C>TCA506118203CERS1,GDF1c.*668G>A (n.*668G>A)
c.399G>A (p.Leu133=)
c.*1260G>A (n.*1260G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.18869318A=CA2326567835CERS1,GDF1c.*667T= (n.*667T=)
c.398T= (p.Leu133=)
c.*1259T= (n.*1259T=)
19g.18869318A>CCA404863349CERS1,GDF1c.*667T>G (n.*667T>G)
c.398T>G (p.Leu133Arg)
c.*1259T>G (n.*1259T>G)
19g.18869318A>GCA404863351CERS1,GDF1c.*667T>C (n.*667T>C)
c.398T>C (p.Leu133Pro)
c.*1259T>C (n.*1259T>C)
19g.18869318A>TCA404863350CERS1,GDF1c.*667T>A (n.*667T>A)
c.398T>A (p.Leu133Gln)
c.*1259T>A (n.*1259T>A)
 dbSNP
19g.18869319G>ACA506118210CERS1,GDF1c.*666C>T (n.*666C>T)
c.397C>T (p.Leu133=)
c.*1258C>T (n.*1258C>T)
19g.18869319G>CCA404863352CERS1,GDF1c.*666C>G (n.*666C>G)
c.397C>G (p.Leu133Val)
c.*1258C>G (n.*1258C>G)
 gnomAD v4
19g.18869319G>TCA404863353CERS1,GDF1c.*666C>A (n.*666C>A)
c.397C>A (p.Leu133Met)
c.*1258C>A (n.*1258C>A)
 gnomAD v4
19g.18869320G>ACA506118211CERS1,GDF1c.*665C>T (n.*665C>T)
c.396C>T (p.Asp132=)
c.*1257C>T (n.*1257C>T)
 dbSNP gnomAD v4
19g.18869320G>CCA404863354CERS1,GDF1c.*665C>G (n.*665C>G)
c.396C>G (p.Asp132Glu)
c.*1257C>G (n.*1257C>G)
19g.18869320G=CA2326567836CERS1,GDF1c.*665C= (n.*665C=)
c.396C= (p.Asp132=)
c.*1257C= (n.*1257C=)
19g.18869320G>TCA404863355CERS1,GDF1c.*665C>A (n.*665C>A)
c.396C>A (p.Asp132Glu)
c.*1257C>A (n.*1257C>A)
 gnomAD v4
19g.18869321T>ACA404863356CERS1,GDF1c.*664A>T (n.*664A>T)
c.395A>T (p.Asp132Val)
c.*1256A>T (n.*1256A>T)
 gnomAD v4
19g.18869321T>CCA404863358CERS1,GDF1c.*664A>G (n.*664A>G)
c.395A>G (p.Asp132Gly)
c.*1256A>G (n.*1256A>G)
 gnomAD v4
19g.18869321T>GCA404863357CERS1,GDF1c.*664A>C (n.*664A>C)
c.395A>C (p.Asp132Ala)
c.*1256A>C (n.*1256A>C)
 gnomAD v4
19g.18869322C>ACA404863359CERS1,GDF1c.*663G>T (n.*663G>T)
c.394G>T (p.Asp132Tyr)
c.*1255G>T (n.*1255G>T)
 gnomAD v4
19g.18869322C=CA2326567837CERS1,GDF1c.*663G= (n.*663G=)
c.394G= (p.Asp132=)
c.*1255G= (n.*1255G=)
19g.18869322C>GCA404863360CERS1,GDF1c.*663G>C (n.*663G>C)
c.394G>C (p.Asp132His)
c.*1255G>C (n.*1255G>C)
 gnomAD v4
19g.18869322C>TCA404863361CERS1,GDF1c.*663G>A (n.*663G>A)
c.394G>A (p.Asp132Asn)
c.*1255G>A (n.*1255G>A)
 dbSNP gnomAD v4
19g.18869323G>ACA506118221CERS1,GDF1c.*662C>T (n.*662C>T)
c.393C>T (p.Phe131=)
c.*1254C>T (n.*1254C>T)
 dbSNP
19g.18869323G>CCA404863362CERS1,GDF1c.*662C>G (n.*662C>G)
c.393C>G (p.Phe131Leu)
c.*1254C>G (n.*1254C>G)
19g.18869323G=CA2326567838CERS1,GDF1c.*662C= (n.*662C=)
c.393C= (p.Phe131=)
c.*1254C= (n.*1254C=)
19g.18869323G>TCA404863363CERS1,GDF1c.*662C>A (n.*662C>A)
c.393C>A (p.Phe131Leu)
c.*1254C>A (n.*1254C>A)
 dbSNP gnomAD v4
19g.18869324A>CCA404863364CERS1,GDF1c.*661T>G (n.*661T>G)
c.392T>G (p.Phe131Cys)
c.*1253T>G (n.*1253T>G)
19g.18869324A>GCA404863365CERS1,GDF1c.*661T>C (n.*661T>C)
c.392T>C (p.Phe131Ser)
c.*1253T>C (n.*1253T>C)
 gnomAD v4
19g.18869324A>TCA404863366CERS1,GDF1c.*661T>A (n.*661T>A)
c.392T>A (p.Phe131Tyr)
c.*1253T>A (n.*1253T>A)
19g.18869325A>CCA404863367CERS1,GDF1c.*660T>G (n.*660T>G)
c.391T>G (p.Phe131Val)
c.*1252T>G (n.*1252T>G)
19g.18869325A>GCA404863368CERS1,GDF1c.*660T>C (n.*660T>C)
c.391T>C (p.Phe131Leu)
c.*1252T>C (n.*1252T>C)
19g.18869325A>TCA404863369CERS1,GDF1c.*660T>A (n.*660T>A)
c.391T>A (p.Phe131Ile)
c.*1252T>A (n.*1252T>A)
 gnomAD v4
19g.18869326G>ACA506118232CERS1,GDF1c.*659C>T (n.*659C>T)
c.390C>T (p.Val130=)
c.*1251C>T (n.*1251C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.18869326G>CCA506118234CERS1,GDF1c.*659C>G (n.*659C>G)
c.390C>G (p.Val130=)
c.*1251C>G (n.*1251C>G)
19g.18869326G=CA2326567839CERS1,GDF1c.*659C= (n.*659C=)
c.390C= (p.Val130=)
c.*1251C= (n.*1251C=)
19g.18869326G>TCA506118233CERS1,GDF1c.*659C>A (n.*659C>A)
c.390C>A (p.Val130=)
c.*1251C>A (n.*1251C>A)
 gnomAD v4
19g.18869327A>CCA404863372CERS1,GDF1c.*658T>G (n.*658T>G)
c.389T>G (p.Val130Gly)
c.*1250T>G (n.*1250T>G)
19g.18869327A>GCA404863371CERS1,GDF1c.*658T>C (n.*658T>C)
c.389T>C (p.Val130Ala)
c.*1250T>C (n.*1250T>C)
19g.18869327A>TCA404863370CERS1,GDF1c.*658T>A (n.*658T>A)
c.389T>A (p.Val130Asp)
c.*1250T>A (n.*1250T>A)
19g.18869328C>ACA404863373CERS1,GDF1c.*657G>T (n.*657G>T)
c.388G>T (p.Val130Phe)
c.*1249G>T (n.*1249G>T)
 gnomAD v4
19g.18869328C=CA2326567840CERS1,GDF1c.*657G= (n.*657G=)
c.388G= (p.Val130=)
c.*1249G= (n.*1249G=)
19g.18869328C>GCA404863374CERS1,GDF1c.*657G>C (n.*657G>C)
c.388G>C (p.Val130Leu)
c.*1249G>C (n.*1249G>C)
19g.18869328C>TCA9317934CERS1,GDF1c.*657G>A (n.*657G>A)
c.388G>A (p.Val130Ile)
c.*1249G>A (n.*1249G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18869329G>ACA506118242CERS1,GDF1c.*656C>T (n.*656C>T)
c.387C>T (p.Val129=)
c.*1248C>T (n.*1248C>T)
 gnomAD v4
19g.18869329G>CCA506118243CERS1,GDF1c.*656C>G (n.*656C>G)
c.387C>G (p.Val129=)
c.*1248C>G (n.*1248C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18869329G=CA2326567841CERS1,GDF1c.*656C= (n.*656C=)
c.387C= (p.Val129=)
c.*1248C= (n.*1248C=)
19g.18869329G>TCA506118245CERS1,GDF1c.*656C>A (n.*656C>A)
c.387C>A (p.Val129=)
c.*1248C>A (n.*1248C>A)
 gnomAD v4
19g.18869330A=CA2326567842CERS1,GDF1c.*655T= (n.*655T=)
c.386T= (p.Val129=)
c.*1247T= (n.*1247T=)
19g.18869330A>CCA404863375CERS1,GDF1c.*655T>G (n.*655T>G)
c.386T>G (p.Val129Gly)
c.*1247T>G (n.*1247T>G)
19g.18869330A>GCA404863376CERS1,GDF1c.*655T>C (n.*655T>C)
c.386T>C (p.Val129Ala)
c.*1247T>C (n.*1247T>C)
 dbSNP
19g.18869330A>TCA404863377CERS1,GDF1c.*655T>A (n.*655T>A)
c.386T>A (p.Val129Asp)
c.*1247T>A (n.*1247T>A)
 gnomAD v4
19g.18869331C>ACA404863380CERS1,GDF1c.*654G>T (n.*654G>T)
c.385G>T (p.Val129Phe)
c.*1246G>T (n.*1246G>T)
 gnomAD v4
19g.18869331C=CA2326567843CERS1,GDF1c.*654G= (n.*654G=)
c.385G= (p.Val129=)
c.*1246G= (n.*1246G=)
19g.18869331C>GCA404863379CERS1,GDF1c.*654G>C (n.*654G>C)
c.385G>C (p.Val129Leu)
c.*1246G>C (n.*1246G>C)
 dbSNP gnomAD v4
19g.18869331C>TCA404863378CERS1,GDF1c.*654G>A (n.*654G>A)
c.385G>A (p.Val129Ile)
c.*1246G>A (n.*1246G>A)
 gnomAD v4
19g.18869332T>ACA506118247CERS1,GDF1c.*653A>T (n.*653A>T)
c.384A>T (p.Thr128=)
c.*1245A>T (n.*1245A>T)
 gnomAD v4
19g.18869332T>CCA506118248CERS1,GDF1c.*653A>G (n.*653A>G)
c.384A>G (p.Thr128=)
c.*1245A>G (n.*1245A>G)
19g.18869332T>GCA506118250CERS1,GDF1c.*653A>C (n.*653A>C)
c.384A>C (p.Thr128=)
c.*1245A>C (n.*1245A>C)

Number of alleles fetched