Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24256063_24256073delinsCGCAGCAGAAGCA2123832568TGM1c.1407_1417delinsCTTCTGCTGCG (p.Ile469=)
c.81_91delinsCTTCTGCTGCG (p.Ile27=)
c.480_490delinsCTTCTGCTGCG (p.Ile160=)
14g.24256068_24256070delCA2123832579TGM1c.1414_1416del (p.Cys472del)
c.88_90del (p.Cys30del)
c.487_489del (p.Cys163del)
 dbSNP
14g.24256064_24256073delinsACAGAGCCA16619856TGM1c.1407_1416delinsGCTCTGT (p.Ile469_Cys471delinsMetLeu)
c.81_90delinsGCTCTGT (p.Ile27_Cys29delinsMetLeu)
c.480_489delinsGCTCTGT (p.Ile160_Cys162delinsMetLeu)
 ClinVar dbSNP
14g.24256068_24256071delCA612959137TGM1c.1409_1412del (p.Phe470SerfsTer17)
c.83_86del (p.Phe28SerfsTer17)
c.482_485del (p.Phe161SerfsTer17)
 gnomAD v2
14g.24256072_24256074delCA2624345719TGM1c.1409_1411del (p.Phe470del)
c.83_85del (p.Phe28del)
c.482_484del (p.Phe161del)
 gnomAD v4
14g.24256070G>ACA485663639TGM1c.1410C>T (p.Phe470=)
c.84C>T (p.Phe28=)
c.483C>T (p.Phe161=)
 gnomAD v4
14g.24256070G>CCA389257059TGM1c.1410C>G (p.Phe470Leu)
c.84C>G (p.Phe28Leu)
c.483C>G (p.Phe161Leu)
14g.24256070G>TCA389257060TGM1c.1410C>A (p.Phe470Leu)
c.84C>A (p.Phe28Leu)
c.483C>A (p.Phe161Leu)
 gnomAD v4
14g.24256070_24256071delinsGACA2123832597TGM1c.1409_1410delinsTC (p.Phe470=)
c.83_84delinsTC (p.Phe28=)
c.482_483delinsTC (p.Phe161=)
14g.24256071A>CCA389257061TGM1c.1409T>G (p.Phe470Cys)
c.83T>G (p.Phe28Cys)
c.482T>G (p.Phe161Cys)
14g.24256071A>GCA389257062TGM1c.1409T>C (p.Phe470Ser)
c.83T>C (p.Phe28Ser)
c.482T>C (p.Phe161Ser)
14g.24256071A>TCA389257067TGM1c.1409T>A (p.Phe470Tyr)
c.83T>A (p.Phe28Tyr)
c.482T>A (p.Phe161Tyr)
14g.24256072delCA612959138TGM1c.1409del (p.Phe470SerfsTer18)
c.83del (p.Phe28SerfsTer18)
c.482del (p.Phe161SerfsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24256072A=CA2123832609TGM1c.1408T= (p.Phe470=)
c.82T= (p.Phe28=)
c.481T= (p.Phe161=)
14g.24256072A>CCA389257077TGM1c.1408T>G (p.Phe470Val)
c.82T>G (p.Phe28Val)
c.481T>G (p.Phe161Val)
14g.24256072A>GCA389257085TGM1c.1408T>C (p.Phe470Leu)
c.82T>C (p.Phe28Leu)
c.481T>C (p.Phe161Leu)
 dbSNP gnomAD v3 gnomAD v4
14g.24256072A>TCA389257074TGM1c.1408T>A (p.Phe470Ile)
c.82T>A (p.Phe28Ile)
c.481T>A (p.Phe161Ile)
 gnomAD v4
14g.24256073G>ACA485663640TGM1c.1407C>T (p.Ile469=)
c.81C>T (p.Ile27=)
c.480C>T (p.Ile160=)
 gnomAD v4
14g.24256073G>CCA389257087TGM1c.1407C>G (p.Ile469Met)
c.81C>G (p.Ile27Met)
c.480C>G (p.Ile160Met)
14g.24256073G=CA2123832615TGM1c.1407C= (p.Ile469=)
c.81C= (p.Ile27=)
c.480C= (p.Ile160=)
14g.24256073G>TCA485663641TGM1c.1407C>A (p.Ile469=)
c.81C>A (p.Ile27=)
c.480C>A (p.Ile160=)
 gnomAD v4
14g.24256073_24256074insCCA612959139TGM1c.1406_1407insG (p.Ile469MetfsTer29)
c.80_81insG (p.Ile27MetfsTer29)
c.479_480insG (p.Ile160MetfsTer29)
 dbSNP gnomAD v2
14g.24256074A=CA2123832625TGM1c.1406T= (p.Ile469=)
c.80T= (p.Ile27=)
c.479T= (p.Ile160=)
14g.24256074A>CCA389257088TGM1c.1406T>G (p.Ile469Ser)
c.80T>G (p.Ile27Ser)
c.479T>G (p.Ile160Ser)
14g.24256074A>GCA7131090TGM1c.1406T>C (p.Ile469Thr)
c.80T>C (p.Ile27Thr)
c.479T>C (p.Ile160Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24256074A>TCA389257091TGM1c.1406T>A (p.Ile469Asn)
c.80T>A (p.Ile27Asn)
c.479T>A (p.Ile160Asn)
14g.24256075T>ACA389257108TGM1c.1405A>T (p.Ile469Phe)
c.79A>T (p.Ile27Phe)
c.478A>T (p.Ile160Phe)
14g.24256075T>CCA389257119TGM1c.1405A>G (p.Ile469Val)
c.79A>G (p.Ile27Val)
c.478A>G (p.Ile160Val)
14g.24256075T>GCA389257129TGM1c.1405A>C (p.Ile469Leu)
c.79A>C (p.Ile27Leu)
c.478A>C (p.Ile160Leu)
14g.24256076G>ACA485663642TGM1c.1404C>T (p.Gly468=)
c.78C>T (p.Gly26=)
c.477C>T (p.Gly159=)
 gnomAD v4
14g.24256076G>CCA485663643TGM1c.1404C>G (p.Gly468=)
c.78C>G (p.Gly26=)
c.477C>G (p.Gly159=)
 gnomAD v4
14g.24256076G>TCA485663644TGM1c.1404C>A (p.Gly468=)
c.78C>A (p.Gly26=)
c.477C>A (p.Gly159=)
 gnomAD v4
14g.24256077C>ACA389257138TGM1c.1403G>T (p.Gly468Val)
c.77G>T (p.Gly26Val)
c.476G>T (p.Gly159Val)
 gnomAD v4
14g.24256077C=CA2123832632TGM1c.1403G= (p.Gly468=)
c.77G= (p.Gly26=)
c.476G= (p.Gly159=)
14g.24256077C>GCA389257149TGM1c.1403G>C (p.Gly468Ala)
c.77G>C (p.Gly26Ala)
c.476G>C (p.Gly159Ala)
14g.24256077C>TCA257893899TGM1c.1403G>A (p.Gly468Asp)
c.77G>A (p.Gly26Asp)
c.476G>A (p.Gly159Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24256078C>ACA389257177TGM1c.1403-1G>T (n.1403-1G>T)
c.77-1G>T (n.77-1G>T)
c.476-1G>T (n.476-1G>T)
 dbSNP gnomAD v2 gnomAD v4
14g.24256078C=CA2123832641TGM1c.1403-1G= (n.1403-1G=)
c.77-1G= (n.77-1G=)
c.476-1G= (n.476-1G=)
14g.24256078C>GCA389257180TGM1c.1403-1G>C (n.1403-1G>C)
c.77-1G>C (n.77-1G>C)
c.476-1G>C (n.476-1G>C)
14g.24256078C>TCA389257181TGM1c.1403-1G>A (n.1403-1G>A)
c.77-1G>A (n.77-1G>A)
c.476-1G>A (n.476-1G>A)
14g.24256079T>ACA389257189TGM1c.1403-2A>T (n.1403-2A>T)
c.77-2A>T (n.77-2A>T)
c.476-2A>T (n.476-2A>T)
14g.24256079T>CCA389257186TGM1c.1403-2A>G (n.1403-2A>G)
c.77-2A>G (n.77-2A>G)
c.476-2A>G (n.476-2A>G)
14g.24256079T>GCA389257184TGM1c.1403-2A>C (n.1403-2A>C)
c.77-2A>C (n.77-2A>C)
c.476-2A>C (n.476-2A>C)
14g.24256080A=CA2123832647TGM1c.1403-3T= (n.1403-3T=)
c.77-3T= (n.77-3T=)
c.476-3T= (n.476-3T=)
14g.24256080A>GCA704350349TGM1c.1403-3T>C (n.1403-3T>C)
c.77-3T>C (n.77-3T>C)
c.476-3T>C (n.476-3T>C)
 dbSNP gnomAD v4
14g.24256081G>CCA2575493855TGM1c.1403-4C>G (n.1403-4C>G)
c.77-4C>G (n.77-4C>G)
c.476-4C>G (n.476-4C>G)
14g.24256081G>TCA2624345720TGM1c.1403-4C>A (n.1403-4C>A)
c.77-4C>A (n.77-4C>A)
c.476-4C>A (n.476-4C>A)
 gnomAD v4
14g.24256082A=CA2123832650TGM1c.1403-5T= (n.1403-5T=)
c.77-5T= (n.77-5T=)
c.476-5T= (n.476-5T=)
14g.24256082A>GCA612959140TGM1c.1403-5T>C (n.1403-5T>C)
c.77-5T>C (n.77-5T>C)
c.476-5T>C (n.476-5T>C)
 dbSNP gnomAD v2 gnomAD v4
14g.24256083G>ACA2580087962TGM1c.1403-6C>T (n.1403-6C>T)
c.77-6C>T (n.77-6C>T)
c.476-6C>T (n.476-6C>T)
 ClinVar

Number of alleles fetched