Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73638491_73638492delinsTGCA1638220480SLC17A5c.533_534delinsCA (p.Thr178=)
n.299_300delinsCA
c.482_483delinsCA (p.Thr161=)
c.335_336delinsCA (p.Thr112=)
c.302_303delinsCA (p.Thr101=)
c.554_555delinsCA (p.Thr185=)
6g.73638492delCA234945SLC17A5c.533del (p.Thr178AsnfsTer?)
n.299del
c.482del (p.Thr161AsnfsTer?)
c.335del (p.Thr112AsnfsTer?)
c.302del (p.Thr101AsnfsTer?)
c.554del (p.Thr185AsnfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73638492G>ACA364716931SLC17A5c.533C>T (p.Thr178Ile)
n.299C>T
c.482C>T (p.Thr161Ile)
c.335C>T (p.Thr112Ile)
c.302C>T (p.Thr101Ile)
c.554C>T (p.Thr185Ile)
6g.73638492G>CCA364716932SLC17A5c.533C>G (p.Thr178Arg)
n.299C>G
c.482C>G (p.Thr161Arg)
c.335C>G (p.Thr112Arg)
c.302C>G (p.Thr101Arg)
c.554C>G (p.Thr185Arg)
 gnomAD v4
6g.73638492G=CA1638220488SLC17A5c.533C= (p.Thr178=)
n.299C=
c.482C= (p.Thr161=)
c.335C= (p.Thr112=)
c.302C= (p.Thr101=)
c.554C= (p.Thr185=)
6g.73638492G>TCA364716933SLC17A5c.533C>A (p.Thr178Lys)
n.299C>A
c.482C>A (p.Thr161Lys)
c.335C>A (p.Thr112Lys)
c.302C>A (p.Thr101Lys)
c.554C>A (p.Thr185Lys)
 dbSNP gnomAD v4
6g.73638493delCA364716936SLC17A5c.532del (p.Thr178HisfsTer?)
n.298del
c.481del (p.Thr161HisfsTer?)
c.334del (p.Thr112HisfsTer?)
c.301del (p.Thr101HisfsTer?)
c.553del (p.Thr185HisfsTer?)
6g.73638493T>ACA364716940SLC17A5c.532A>T (p.Thr178Ser)
n.298A>T
c.481A>T (p.Thr161Ser)
c.334A>T (p.Thr112Ser)
c.301A>T (p.Thr101Ser)
c.553A>T (p.Thr185Ser)
6g.73638493T>CCA140973834SLC17A5c.532A>G (p.Thr178Ala)
n.298A>G
c.481A>G (p.Thr161Ala)
c.334A>G (p.Thr112Ala)
c.301A>G (p.Thr101Ala)
c.553A>G (p.Thr185Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73638493T>GCA3890508SLC17A5c.532A>C (p.Thr178Pro)
n.298A>C
c.481A>C (p.Thr161Pro)
c.334A>C (p.Thr112Pro)
c.301A>C (p.Thr101Pro)
c.553A>C (p.Thr185Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73638493T=CA1638220495SLC17A5c.532A= (p.Thr178=)
n.298A=
c.481A= (p.Thr161=)
c.334A= (p.Thr112=)
c.301A= (p.Thr101=)
c.553A= (p.Thr185=)
6g.73638493dupCA1638220493SLC17A5c.532dup (p.Thr178AsnfsTer17)
n.298dup
c.481dup (p.Thr161AsnfsTer17)
c.334dup (p.Thr112AsnfsTer17)
c.301dup (p.Thr101AsnfsTer17)
c.553dup (p.Thr185AsnfsTer17)
 ClinVar dbSNP gnomAD v4
6g.73638493_73638494delinsTACA1638220497SLC17A5c.531_532delinsTA (p.Val177=)
n.297_298delinsTA
c.480_481delinsTA (p.Val160=)
c.333_334delinsTA (p.Val111=)
c.300_301delinsTA (p.Val100=)
c.552_553delinsTA (p.Val184=)
6g.73638494A>CCA450912056SLC17A5c.531T>G (p.Val177=)
n.297T>G
c.480T>G (p.Val160=)
c.333T>G (p.Val111=)
c.300T>G (p.Val100=)
c.552T>G (p.Val184=)
6g.73638494A>GCA450912055SLC17A5c.531T>C (p.Val177=)
n.297T>C
c.480T>C (p.Val160=)
c.333T>C (p.Val111=)
c.300T>C (p.Val100=)
c.552T>C (p.Val184=)
6g.73638494A>TCA450912054SLC17A5c.531T>A (p.Val177=)
n.297T>A
c.480T>A (p.Val160=)
c.333T>A (p.Val111=)
c.300T>A (p.Val100=)
c.552T>A (p.Val184=)
 ClinVar
6g.73638495delCA827973618SLC17A5c.531del (p.Thr178HisfsTer?)
n.297del
c.480del (p.Thr161HisfsTer?)
c.333del (p.Thr112HisfsTer?)
c.300del (p.Thr101HisfsTer?)
c.552del (p.Thr185HisfsTer?)
 dbSNP
6g.73638495A=CA1638220501SLC17A5c.530T= (p.Val177=)
n.296T=
c.479T= (p.Val160=)
c.332T= (p.Val111=)
c.299T= (p.Val100=)
c.551T= (p.Val184=)
6g.73638495A>CCA364716941SLC17A5c.530T>G (p.Val177Gly)
n.296T>G
c.479T>G (p.Val160Gly)
c.332T>G (p.Val111Gly)
c.299T>G (p.Val100Gly)
c.551T>G (p.Val184Gly)
6g.73638495A>GCA364716942SLC17A5c.530T>C (p.Val177Ala)
n.296T>C
c.479T>C (p.Val160Ala)
c.332T>C (p.Val111Ala)
c.299T>C (p.Val100Ala)
c.551T>C (p.Val184Ala)
 dbSNP
6g.73638495A>TCA364716943SLC17A5c.530T>A (p.Val177Asp)
n.296T>A
c.479T>A (p.Val160Asp)
c.332T>A (p.Val111Asp)
c.299T>A (p.Val100Asp)
c.551T>A (p.Val184Asp)
6g.73638496C>ACA364716944SLC17A5c.529G>T (p.Val177Phe)
n.295G>T
c.478G>T (p.Val160Phe)
c.331G>T (p.Val111Phe)
c.298G>T (p.Val100Phe)
c.550G>T (p.Val184Phe)
6g.73638496C=CA1638220504SLC17A5c.529G= (p.Val177=)
n.295G=
c.478G= (p.Val160=)
c.331G= (p.Val111=)
c.298G= (p.Val100=)
c.550G= (p.Val184=)
6g.73638496C>GCA364716945SLC17A5c.529G>C (p.Val177Leu)
n.295G>C
c.478G>C (p.Val160Leu)
c.331G>C (p.Val111Leu)
c.298G>C (p.Val100Leu)
c.550G>C (p.Val184Leu)
6g.73638496C>TCA140973838SLC17A5c.529G>A (p.Val177Ile)
n.295G>A
c.478G>A (p.Val160Ile)
c.331G>A (p.Val111Ile)
c.298G>A (p.Val100Ile)
c.550G>A (p.Val184Ile)
 ClinVar dbSNP gnomAD v4
6g.73638497A>CCA450912057SLC17A5c.528T>G (p.Gly176=)
n.294T>G
c.477T>G (p.Gly159=)
c.330T>G (p.Gly110=)
c.297T>G (p.Gly99=)
c.549T>G (p.Gly183=)
6g.73638497A>GCA450912058SLC17A5c.528T>C (p.Gly176=)
n.294T>C
c.477T>C (p.Gly159=)
c.330T>C (p.Gly110=)
c.297T>C (p.Gly99=)
c.549T>C (p.Gly183=)
6g.73638497A>TCA450912059SLC17A5c.528T>A (p.Gly176=)
n.294T>A
c.477T>A (p.Gly159=)
c.330T>A (p.Gly110=)
c.297T>A (p.Gly99=)
c.549T>A (p.Gly183=)
6g.73638498C>ACA364716946SLC17A5c.527G>T (p.Gly176Val)
n.293G>T
c.476G>T (p.Gly159Val)
c.329G>T (p.Gly110Val)
c.296G>T (p.Gly99Val)
c.548G>T (p.Gly183Val)
 ClinVar gnomAD v4
6g.73638498C>GCA364716948SLC17A5c.527G>C (p.Gly176Ala)
n.293G>C
c.476G>C (p.Gly159Ala)
c.329G>C (p.Gly110Ala)
c.296G>C (p.Gly99Ala)
c.548G>C (p.Gly183Ala)
6g.73638498C>TCA364716950SLC17A5c.527G>A (p.Gly176Asp)
n.293G>A
c.476G>A (p.Gly159Asp)
c.329G>A (p.Gly110Asp)
c.296G>A (p.Gly99Asp)
c.548G>A (p.Gly183Asp)
6g.73638500delCA2573320611SLC17A5c.527del
n.293del
c.476del
c.329del
c.296del
c.548del
6g.73638499C>ACA364716955SLC17A5c.526G>T (p.Gly176Cys)
n.292G>T
c.475G>T (p.Gly159Cys)
c.328G>T (p.Gly110Cys)
c.295G>T (p.Gly99Cys)
c.547G>T (p.Gly183Cys)
6g.73638499C>GCA364716957SLC17A5c.526G>C (p.Gly176Arg)
n.292G>C
c.475G>C (p.Gly159Arg)
c.328G>C (p.Gly110Arg)
c.295G>C (p.Gly99Arg)
c.547G>C (p.Gly183Arg)
6g.73638499C>TCA364716958SLC17A5c.526G>A (p.Gly176Ser)
n.292G>A
c.475G>A (p.Gly159Ser)
c.328G>A (p.Gly110Ser)
c.295G>A (p.Gly99Ser)
c.547G>A (p.Gly183Ser)
 gnomAD v4
6g.73638500C>ACA364716966SLC17A5c.526-1G>T (n.526-1G>T)
n.292-1G>T
c.475-1G>T (n.475-1G>T)
c.328-1G>T (n.328-1G>T)
c.295-1G>T (n.295-1G>T)
c.547-1G>T (n.547-1G>T)
6g.73638500C>GCA364716964SLC17A5c.526-1G>C (n.526-1G>C)
n.292-1G>C
c.475-1G>C (n.475-1G>C)
c.328-1G>C (n.328-1G>C)
c.295-1G>C (n.295-1G>C)
c.547-1G>C (n.547-1G>C)
 gnomAD v4
6g.73638500C>TCA364716962SLC17A5c.526-1G>A (n.526-1G>A)
n.292-1G>A
c.475-1G>A (n.475-1G>A)
c.328-1G>A (n.328-1G>A)
c.295-1G>A (n.295-1G>A)
c.547-1G>A (n.547-1G>A)
6g.73638501T>ACA364716968SLC17A5c.526-2A>T (n.526-2A>T)
n.292-2A>T
c.475-2A>T (n.475-2A>T)
c.328-2A>T (n.328-2A>T)
c.295-2A>T (n.295-2A>T)
c.547-2A>T (n.547-2A>T)
6g.73638501T>CCA364716971SLC17A5c.526-2A>G (n.526-2A>G)
n.292-2A>G
c.475-2A>G (n.475-2A>G)
c.328-2A>G (n.328-2A>G)
c.295-2A>G (n.295-2A>G)
c.547-2A>G (n.547-2A>G)
 ClinVar dbSNP gnomAD v4
6g.73638501T>GCA364716970SLC17A5c.526-2A>C (n.526-2A>C)
n.292-2A>C
c.475-2A>C (n.475-2A>C)
c.328-2A>C (n.328-2A>C)
c.295-2A>C (n.295-2A>C)
c.547-2A>C (n.547-2A>C)
6g.73638501T=CA1638220507SLC17A5c.526-2A= (n.526-2A=)
n.292-2A=
c.475-2A= (n.475-2A=)
c.328-2A= (n.328-2A=)
c.295-2A= (n.295-2A=)
c.547-2A= (n.547-2A=)
6g.73638501_73638503delinsTGACA1638220511SLC17A5c.526-4_526-2delinsTCA (n.526-4_526-2delinsTCA)
n.292-4_292-2delinsTCA
c.475-4_475-2delinsTCA (n.475-4_475-2delinsTCA)
c.328-4_328-2delinsTCA (n.328-4_328-2delinsTCA)
c.295-4_295-2delinsTCA (n.295-4_295-2delinsTCA)
c.547-4_547-2delinsTCA (n.547-4_547-2delinsTCA)
6g.73638502G>ACA827973637SLC17A5c.526-3C>T (n.526-3C>T)
n.292-3C>T
c.475-3C>T (n.475-3C>T)
c.328-3C>T (n.328-3C>T)
c.295-3C>T (n.295-3C>T)
c.547-3C>T (n.547-3C>T)
 dbSNP
6g.73638502G=CA1638220516SLC17A5c.526-3C= (n.526-3C=)
n.292-3C=
c.475-3C= (n.475-3C=)
c.328-3C= (n.328-3C=)
c.295-3C= (n.295-3C=)
c.547-3C= (n.547-3C=)
6g.73638506_73638507delCA450912060SLC17A5c.526-4_526-3del (n.526-4_526-3del)
n.292-4_292-3del
c.475-4_475-3del (n.475-4_475-3del)
c.328-4_328-3del (n.328-4_328-3del)
c.295-4_295-3del (n.295-4_295-3del)
c.547-4_547-3del (n.547-4_547-3del)
 ClinVar dbSNP gnomAD v4
6g.73638503A=CA1638220519SLC17A5c.526-4T= (n.526-4T=)
n.292-4T=
c.475-4T= (n.475-4T=)
c.328-4T= (n.328-4T=)
c.295-4T= (n.295-4T=)
c.547-4T= (n.547-4T=)
6g.73638503A>TCA3890509SLC17A5c.526-4T>A (n.526-4T>A)
n.292-4T>A
c.475-4T>A (n.475-4T>A)
c.328-4T>A (n.328-4T>A)
c.295-4T>A (n.295-4T>A)
c.547-4T>A (n.547-4T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73638504G>ACA3890510SLC17A5c.526-5C>T (n.526-5C>T)
n.292-5C>T
c.475-5C>T (n.475-5C>T)
c.328-5C>T (n.328-5C>T)
c.295-5C>T (n.295-5C>T)
c.547-5C>T (n.547-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73638504G=CA1638220523SLC17A5c.526-5C= (n.526-5C=)
n.292-5C=
c.475-5C= (n.475-5C=)
c.328-5C= (n.328-5C=)
c.295-5C= (n.295-5C=)
c.547-5C= (n.547-5C=)

Number of alleles fetched