Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.122780299T>ACA365488710FABP7c.82T>A (p.Phe28Ile)
c.70T>A (p.Phe24Ile)
6g.122780299T>CCA365488711FABP7c.82T>C (p.Phe28Leu)
c.70T>C (p.Phe24Leu)
6g.122780299T>GCA3982888FABP7c.82T>G (p.Phe28Val)
c.70T>G (p.Phe24Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.122780299T=CA1660115245FABP7c.82T= (p.Phe28=)
c.70T= (p.Phe24=)
6g.122780300T>ACA365488717FABP7c.83T>A (p.Phe28Tyr)
c.71T>A (p.Phe24Tyr)
6g.122780300T>CCA365488715FABP7c.83T>C (p.Phe28Ser)
c.71T>C (p.Phe24Ser)
gnomAD v4
6g.122780300T>GCA365488716FABP7c.83T>G (p.Phe28Cys)
c.71T>G (p.Phe24Cys)
6g.122780301T>ACA365488720FABP7c.84T>A (p.Phe28Leu)
c.72T>A (p.Phe24Leu)
6g.122780301T>CCA451977542FABP7c.84T>C (p.Phe28=)
c.72T>C (p.Phe24=)
6g.122780301T>GCA365488721FABP7c.84T>G (p.Phe28Leu)
c.72T>G (p.Phe24Leu)
6g.122780302G>ACA365488724FABP7c.85G>A (p.Ala29Thr)
c.73G>A (p.Ala25Thr)
gnomAD v4
6g.122780302G>CCA147076830FABP7c.85G>C (p.Ala29Pro)
c.73G>C (p.Ala25Pro)
dbSNP
6g.122780302G=CA1660115246FABP7c.85G= (p.Ala29=)
c.73G= (p.Ala25=)
6g.122780302G>TCA365488725FABP7c.85G>T (p.Ala29Ser)
c.73G>T (p.Ala25Ser)
6g.122780303C>ACA365488728FABP7c.86C>A (p.Ala29Asp)
c.74C>A (p.Ala25Asp)
6g.122780303C>GCA365488731FABP7c.86C>G (p.Ala29Gly)
c.74C>G (p.Ala25Gly)
6g.122780303C>TCA365488729FABP7c.86C>T (p.Ala29Val)
c.74C>T (p.Ala25Val)
6g.122780304C>ACA451977543FABP7c.87C>A (p.Ala29=)
c.75C>A (p.Ala25=)
6g.122780304C>GCA451977544FABP7c.87C>G (p.Ala29=)
c.75C>G (p.Ala25=)
6g.122780304C>TCA451977545FABP7c.87C>T (p.Ala29=)
c.75C>T (p.Ala25=)
6g.122780305A=CA1660115247FABP7c.88A= (p.Thr30=)
c.76A= (p.Thr26=)
6g.122780305A>CCA365488734FABP7c.88A>C (p.Thr30Pro)
c.76A>C (p.Thr26Pro)
6g.122780305A>GCA365488735FABP7c.88A>G (p.Thr30Ala)
c.76A>G (p.Thr26Ala)
6g.122780305A>TCA365488737FABP7c.88A>T (p.Thr30Ser)
c.76A>T (p.Thr26Ser)
dbSNP
6g.122780306C>ACA365488738FABP7c.89C>A (p.Thr30Asn)
c.77C>A (p.Thr26Asn)
6g.122780306C>GCA365488739FABP7c.89C>G (p.Thr30Ser)
c.77C>G (p.Thr26Ser)
6g.122780306C>TCA365488741FABP7c.89C>T (p.Thr30Ile)
c.77C>T (p.Thr26Ile)
6g.122780307T>ACA451977546FABP7c.90T>A (p.Thr30=)
c.78T>A (p.Thr26=)
6g.122780307T>CCA451977547FABP7c.90T>C (p.Thr30=)
c.78T>C (p.Thr26=)
dbSNP gnomAD v2 gnomAD v4
6g.122780307T>GCA451977548FABP7c.90T>G (p.Thr30=)
c.78T>G (p.Thr26=)
gnomAD v4
6g.122780307T=CA1660115248FABP7c.90T= (p.Thr30=)
c.78T= (p.Thr26=)
6g.122780308A=CA1660115249FABP7c.91A= (p.Arg31=)
c.79A= (p.Arg27=)
6g.122780308A>CCA451977549FABP7c.91A>C (p.Arg31=)
c.79A>C (p.Arg27=)
6g.122780308A>GCA365488744FABP7c.91A>G (p.Arg31Gly)
c.79A>G (p.Arg27Gly)
6g.122780308A>TCA365488745FABP7c.91A>T (p.Arg31Trp)
c.79A>T (p.Arg27Trp)
6g.122780309G>ACA365488748FABP7c.92G>A (p.Arg31Lys)
c.80G>A (p.Arg27Lys)
gnomAD v4
6g.122780309G>CCA365488750FABP7c.92G>C (p.Arg31Thr)
c.80G>C (p.Arg27Thr)
6g.122780309G>TCA365488751FABP7c.92G>T (p.Arg31Met)
c.80G>T (p.Arg27Met)
6g.122780310dupCA818250088FABP7c.93dup (p.Gln32AlafsTer?)
c.81dup (p.Gln28AlafsTer?)
dbSNP gnomAD v3 gnomAD v4
6g.122780310G>ACA451977550FABP7c.93G>A (p.Arg31=)
c.81G>A (p.Arg27=)
COSMIC COSMIC
6g.122780310G>CCA365488755FABP7c.93G>C (p.Arg31Ser)
c.81G>C (p.Arg27Ser)
6g.122780310G>TCA365488753FABP7c.93G>T (p.Arg31Ser)
c.81G>T (p.Arg27Ser)
6g.122780311C>ACA365488757FABP7c.94C>A (p.Gln32Lys)
c.82C>A (p.Gln28Lys)
6g.122780311C=CA1660115250FABP7c.94C= (p.Gln32=)
c.82C= (p.Gln28=)
6g.122780311C>GCA365488760FABP7c.94C>G (p.Gln32Glu)
c.82C>G (p.Gln28Glu)
6g.122780311C>TCA365488759FABP7c.94C>T (p.Gln32Ter)
c.82C>T (p.Gln28Ter)
6g.122780312A=CA1660115251FABP7c.95A= (p.Gln32=)
c.83A= (p.Gln28=)
6g.122780312A>CCA365488765FABP7c.95A>C (p.Gln32Pro)
c.83A>C (p.Gln28Pro)
6g.122780312A>GCA147076839FABP7c.95A>G (p.Gln32Arg)
c.83A>G (p.Gln28Arg)
dbSNP
6g.122780312A>TCA365488764FABP7c.95A>T (p.Gln32Leu)
c.83A>T (p.Gln28Leu)

Number of alleles fetched