Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.35455802_35456508delinsGGACTCCCAGGGAGCA2573140312FANCEc.304_855+155delinsGGACTCCCAGGGAG
c.22_573+155delinsGGACTCCCAGGGAG
c.10_561+155delinsGGACTCCCAGGGAG
n.511_1062+155delinsGGACTCCCAGGGAG
 ClinVar dbSNP
6g.35455819A=CA1620905426FANCEc.321A= (p.Pro107=)
c.39A= (p.Pro13=)
c.27A= (p.Pro9=)
n.528A=
6g.35455819A>CCA449942333FANCEc.321A>C (p.Pro107=)
c.39A>C (p.Pro13=)
c.27A>C (p.Pro9=)
n.528A>C
 dbSNP
6g.35455819A>GCA449942334FANCEc.321A>G (p.Pro107=)
c.39A>G (p.Pro13=)
c.27A>G (p.Pro9=)
n.528A>G
 dbSNP gnomAD v2 gnomAD v4
6g.35455819A>TCA449942335FANCEc.321A>T (p.Pro107=)
c.39A>T (p.Pro13=)
c.27A>T (p.Pro9=)
n.528A>T
 dbSNP gnomAD v4
6g.35455820T>ACA363772626FANCEc.322T>A (p.Ser108Thr)
c.40T>A (p.Ser14Thr)
c.28T>A (p.Ser10Thr)
n.529T>A
6g.35455820T>CCA363772628FANCEc.322T>C (p.Ser108Pro)
c.40T>C (p.Ser14Pro)
c.28T>C (p.Ser10Pro)
n.529T>C
6g.35455820T>GCA363772630FANCEc.322T>G (p.Ser108Ala)
c.40T>G (p.Ser14Ala)
c.28T>G (p.Ser10Ala)
n.529T>G
6g.35455821C>ACA363772632FANCEc.323C>A (p.Ser108Ter)
c.41C>A (p.Ser14Ter)
c.29C>A (p.Ser10Ter)
n.530C>A
6g.35455821C=CA1620905427FANCEc.323C= (p.Ser108=)
c.41C= (p.Ser14=)
c.29C= (p.Ser10=)
n.530C=
6g.35455821C>GCA363772634FANCEc.323C>G (p.Ser108Trp)
c.41C>G (p.Ser14Trp)
c.29C>G (p.Ser10Trp)
n.530C>G
 dbSNP gnomAD v3 gnomAD v4
6g.35455821C>TCA137294414FANCEc.323C>T (p.Ser108Leu)
c.41C>T (p.Ser14Leu)
c.29C>T (p.Ser10Leu)
n.530C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35455822G>ACA3771386FANCEc.324G>A (p.Ser108=)
c.42G>A (p.Ser14=)
c.30G>A (p.Ser10=)
n.531G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.35455822G>CCA449942340FANCEc.324G>C (p.Ser108=)
c.42G>C (p.Ser14=)
c.30G>C (p.Ser10=)
n.531G>C
 dbSNP
6g.35455822G=CA1620905428FANCEc.324G= (p.Ser108=)
c.42G= (p.Ser14=)
c.30G= (p.Ser10=)
n.531G=
6g.35455822G>TCA449942339FANCEc.324G>T (p.Ser108=)
c.42G>T (p.Ser14=)
c.30G>T (p.Ser10=)
n.531G>T
 dbSNP
6g.35455823C>ACA363772636FANCEc.325C>A (p.Leu109Met)
c.43C>A (p.Leu15Met)
c.31C>A (p.Leu11Met)
n.532C>A
6g.35455823C>GCA363772639FANCEc.325C>G (p.Leu109Val)
c.43C>G (p.Leu15Val)
c.31C>G (p.Leu11Val)
n.532C>G
6g.35455823C>TCA449942343FANCEc.325C>T (p.Leu109=)
c.43C>T (p.Leu15=)
c.31C>T (p.Leu11=)
n.532C>T
 ClinVar
6g.35455824T>ACA363772641FANCEc.326T>A (p.Leu109Gln)
c.44T>A (p.Leu15Gln)
c.32T>A (p.Leu11Gln)
n.533T>A
 gnomAD v4
6g.35455824T>CCA363772643FANCEc.326T>C (p.Leu109Pro)
c.44T>C (p.Leu15Pro)
c.32T>C (p.Leu11Pro)
n.533T>C
6g.35455824T>GCA363772645FANCEc.326T>G (p.Leu109Arg)
c.44T>G (p.Leu15Arg)
c.32T>G (p.Leu11Arg)
n.533T>G
6g.35455825G>ACA449942346FANCEc.327G>A (p.Leu109=)
c.45G>A (p.Leu15=)
c.33G>A (p.Leu11=)
n.534G>A
 dbSNP gnomAD v4
6g.35455825G>CCA449942347FANCEc.327G>C (p.Leu109=)
c.45G>C (p.Leu15=)
c.33G>C (p.Leu11=)
n.534G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.35455825G=CA1620905430FANCEc.327G= (p.Leu109=)
c.45G= (p.Leu15=)
c.33G= (p.Leu11=)
n.534G=
6g.35455825G>TCA449942348FANCEc.327G>T (p.Leu109=)
c.45G>T (p.Leu15=)
c.33G>T (p.Leu11=)
n.534G>T
6g.35455825_35455826delinsGCCA1620905429FANCEc.327_328delinsGC (p.Leu109=)
c.45_46delinsGC (p.Leu15=)
c.33_34delinsGC (p.Leu11=)
n.534_535delinsGC
6g.35455826C>ACA363772648FANCEc.328C>A (p.Pro110Thr)
c.46C>A (p.Pro16Thr)
c.34C>A (p.Pro12Thr)
n.535C>A
6g.35455826C=CA1620905431FANCEc.328C= (p.Pro110=)
c.46C= (p.Pro16=)
c.34C= (p.Pro12=)
n.535C=
6g.35455826C>GCA363772649FANCEc.328C>G (p.Pro110Ala)
c.46C>G (p.Pro16Ala)
c.34C>G (p.Pro12Ala)
n.535C>G
6g.35455826C>TCA3771388FANCEc.328C>T (p.Pro110Ser)
c.46C>T (p.Pro16Ser)
c.34C>T (p.Pro12Ser)
n.535C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35455827delCA3771387FANCEc.329del (p.Pro110ArgfsTer16)
c.47del (p.Pro16ArgfsTer16)
c.35del (p.Pro12ArgfsTer16)
n.536del
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.35455827C>ACA363772654FANCEc.329C>A (p.Pro110Gln)
c.47C>A (p.Pro16Gln)
c.35C>A (p.Pro12Gln)
n.536C>A
6g.35455827C=CA1620905432FANCEc.329C= (p.Pro110=)
c.47C= (p.Pro16=)
c.35C= (p.Pro12=)
n.536C=
6g.35455827C>GCA363772655FANCEc.329C>G (p.Pro110Arg)
c.47C>G (p.Pro16Arg)
c.35C>G (p.Pro12Arg)
n.536C>G
6g.35455827C>TCA3771389FANCEc.329C>T (p.Pro110Leu)
c.47C>T (p.Pro16Leu)
c.35C>T (p.Pro12Leu)
n.536C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35455828G>ACA3771390FANCEc.330G>A (p.Pro110=)
c.48G>A (p.Pro16=)
c.36G>A (p.Pro12=)
n.537G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.35455828G>CCA449942350FANCEc.330G>C (p.Pro110=)
c.48G>C (p.Pro16=)
c.36G>C (p.Pro12=)
n.537G>C
6g.35455828G=CA1620905433FANCEc.330G= (p.Pro110=)
c.48G= (p.Pro16=)
c.36G= (p.Pro12=)
n.537G=
6g.35455828G>TCA449942351FANCEc.330G>T (p.Pro110=)
c.48G>T (p.Pro16=)
c.36G>T (p.Pro12=)
n.537G>T
 COSMIC
6g.35455829G>ACA363772662FANCEc.331G>A (p.Glu111Lys)
c.49G>A (p.Glu17Lys)
c.37G>A (p.Glu13Lys)
n.538G>A
6g.35455829G>CCA363772660FANCEc.331G>C (p.Glu111Gln)
c.49G>C (p.Glu17Gln)
c.37G>C (p.Glu13Gln)
n.538G>C
 dbSNP gnomAD v4
6g.35455829G>TCA363772658FANCEc.331G>T (p.Glu111Ter)
c.49G>T (p.Glu17Ter)
c.37G>T (p.Glu13Ter)
n.538G>T
6g.35455829_35455830delinsGACA1620905434FANCEc.331_332delinsGA (p.Glu111=)
c.49_50delinsGA (p.Glu17=)
c.37_38delinsGA (p.Glu13=)
n.538_539delinsGA
6g.35455830A>CCA363772664FANCEc.332A>C (p.Glu111Ala)
c.50A>C (p.Glu17Ala)
c.38A>C (p.Glu13Ala)
n.539A>C
6g.35455830A>GCA363772668FANCEc.332A>G (p.Glu111Gly)
c.50A>G (p.Glu17Gly)
c.38A>G (p.Glu13Gly)
n.539A>G
6g.35455830A>TCA363772666FANCEc.332A>T (p.Glu111Val)
c.50A>T (p.Glu17Val)
c.38A>T (p.Glu13Val)
n.539A>T
6g.35455832delCA566703041FANCEc.334del (p.Ser112ValfsTer14)
c.52del (p.Ser18ValfsTer14)
c.40del (p.Ser14ValfsTer14)
n.541del
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.35455831A>CCA363772671FANCEc.333A>C (p.Glu111Asp)
c.51A>C (p.Glu17Asp)
c.39A>C (p.Glu13Asp)
n.540A>C
6g.35455831A>GCA449942352FANCEc.333A>G (p.Glu111=)
c.51A>G (p.Glu17=)
c.39A>G (p.Glu13=)
n.540A>G

Number of alleles fetched