Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.122780374_122780412dupCA2680210785FABP7c.157_195dup (p.Phe65_Gln66insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe)
c.145_183dup (p.Phe61_Gln62insArgThrLeuSerThrPheLysAsnThrGluIleSerPhe)
gnomAD v4
6g.122780399C>ACA365489010FABP7c.182C>A (p.Thr61Lys)
c.170C>A (p.Thr57Lys)
6g.122780399C=CA1660115286FABP7c.182C= (p.Thr61=)
c.170C= (p.Thr57=)
6g.122780399C>GCA365489009FABP7c.182C>G (p.Thr61Arg)
c.170C>G (p.Thr57Arg)
6g.122780399C>TCA3982901FABP7c.182C>T (p.Thr61Met)
c.170C>T (p.Thr57Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.122780400G>ACA3982902FABP7c.183G>A (p.Thr61=)
c.171G>A (p.Thr57=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780400G>CCA451977607FABP7c.183G>C (p.Thr61=)
c.171G>C (p.Thr57=)
gnomAD v4
6g.122780400G=CA1660115287FABP7c.183G= (p.Thr61=)
c.171G= (p.Thr57=)
6g.122780400G>TCA451977606FABP7c.183G>T (p.Thr61=)
c.171G>T (p.Thr57=)
6g.122780401G>ACA365489011FABP7c.184G>A (p.Glu62Lys)
c.172G>A (p.Glu58Lys)
gnomAD v4
6g.122780401G>CCA365489012FABP7c.184G>C (p.Glu62Gln)
c.172G>C (p.Glu58Gln)
6g.122780401G>TCA365489013FABP7c.184G>T (p.Glu62Ter)
c.172G>T (p.Glu58Ter)
6g.122780402A=CA1660115288FABP7c.185A= (p.Glu62=)
c.173A= (p.Glu58=)
6g.122780402A>CCA365489014FABP7c.185A>C (p.Glu62Ala)
c.173A>C (p.Glu58Ala)
6g.122780402A>GCA365489015FABP7c.185A>G (p.Glu62Gly)
c.173A>G (p.Glu58Gly)
6g.122780402A>TCA365489016FABP7c.185A>T (p.Glu62Val)
c.173A>T (p.Glu58Val)
dbSNP gnomAD v2
6g.122780403G>ACA451977608FABP7c.186G>A (p.Glu62=)
c.174G>A (p.Glu58=)
6g.122780403G>CCA365489017FABP7c.186G>C (p.Glu62Asp)
c.174G>C (p.Glu58Asp)
gnomAD v4
6g.122780403G>TCA365489018FABP7c.186G>T (p.Glu62Asp)
c.174G>T (p.Glu58Asp)
6g.122780404A>CCA365489019FABP7c.187A>C (p.Ile63Leu)
c.175A>C (p.Ile59Leu)
gnomAD v4
6g.122780404A>GCA365489020FABP7c.187A>G (p.Ile63Val)
c.175A>G (p.Ile59Val)
6g.122780404A>TCA365489021FABP7c.187A>T (p.Ile63Phe)
c.175A>T (p.Ile59Phe)
6g.122780405T>ACA365489024FABP7c.188T>A (p.Ile63Asn)
c.176T>A (p.Ile59Asn)
6g.122780405T>CCA365489023FABP7c.188T>C (p.Ile63Thr)
c.176T>C (p.Ile59Thr)
gnomAD v4
6g.122780405T>GCA365489022FABP7c.188T>G (p.Ile63Ser)
c.176T>G (p.Ile59Ser)
gnomAD v4
6g.122780406T>ACA451977609FABP7c.189T>A (p.Ile63=)
c.177T>A (p.Ile59=)
6g.122780406T>CCA451977610FABP7c.189T>C (p.Ile63=)
c.177T>C (p.Ile59=)
6g.122780406T>GCA365489025FABP7c.189T>G (p.Ile63Met)
c.177T>G (p.Ile59Met)
6g.122780407A=CA1660115289FABP7c.190A= (p.Ser64=)
c.178A= (p.Ser60=)
6g.122780407A>CCA3982903FABP7c.190A>C (p.Ser64Arg)
c.178A>C (p.Ser60Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.122780407A>GCA365489026FABP7c.190A>G (p.Ser64Gly)
c.178A>G (p.Ser60Gly)
gnomAD v4
6g.122780407A>TCA365489027FABP7c.190A>T (p.Ser64Cys)
c.178A>T (p.Ser60Cys)
6g.122780408G>ACA365489028FABP7c.191G>A (p.Ser64Asn)
c.179G>A (p.Ser60Asn)
gnomAD v4
6g.122780408G>CCA365489029FABP7c.191G>C (p.Ser64Thr)
c.179G>C (p.Ser60Thr)
6g.122780408G>TCA365489030FABP7c.191G>T (p.Ser64Ile)
c.179G>T (p.Ser60Ile)
6g.122780409T>ACA365489031FABP7c.192T>A (p.Ser64Arg)
c.180T>A (p.Ser60Arg)
6g.122780409T>CCA451977611FABP7c.192T>C (p.Ser64=)
c.180T>C (p.Ser60=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.122780409T>GCA365489032FABP7c.192T>G (p.Ser64Arg)
c.180T>G (p.Ser60Arg)
6g.122780409T=CA1660115290FABP7c.192T= (p.Ser64=)
c.180T= (p.Ser60=)
6g.122780410T>ACA365489033FABP7c.193T>A (p.Phe65Ile)
c.181T>A (p.Phe61Ile)
6g.122780410T>CCA365489034FABP7c.193T>C (p.Phe65Leu)
c.181T>C (p.Phe61Leu)
6g.122780410T>GCA365489035FABP7c.193T>G (p.Phe65Val)
c.181T>G (p.Phe61Val)
6g.122780411T>ACA365489038FABP7c.194T>A (p.Phe65Tyr)
c.182T>A (p.Phe61Tyr)
6g.122780411T>CCA365489037FABP7c.194T>C (p.Phe65Ser)
c.182T>C (p.Phe61Ser)
6g.122780411T>GCA365489036FABP7c.194T>G (p.Phe65Cys)
c.182T>G (p.Phe61Cys)
dbSNP gnomAD v2 gnomAD v4
6g.122780411T=CA1660115291FABP7c.194T= (p.Phe65=)
c.182T= (p.Phe61=)
6g.122780412C>ACA365489039FABP7c.195C>A (p.Phe65Leu)
c.183C>A (p.Phe61Leu)
6g.122780412C>GCA365489040FABP7c.195C>G (p.Phe65Leu)
c.183C>G (p.Phe61Leu)
6g.122780412C>TCA451977612FABP7c.195C>T (p.Phe65=)
c.183C>T (p.Phe61=)
6g.122780413C>ACA365489041FABP7c.196C>A (p.Gln66Lys)
c.184C>A (p.Gln62Lys)

Number of alleles fetched