Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.13492789A=CA1953324725PTHc.67T= (p.Ser23=)
c.163T= (p.Ser55=)
11g.13492789A>CCA379724927PTHc.67T>G (p.Ser23Ala)
c.163T>G (p.Ser55Ala)
11g.13492789A>GCA123437PTHc.67T>C (p.Ser23Pro)
c.163T>C (p.Ser55Pro)
ClinVar dbSNP
11g.13492789A>TCA379724928PTHc.67T>A (p.Ser23Thr)
c.163T>A (p.Ser55Thr)
11g.13492789_13492793delinsATTTTCA1953324721PTHc.63_67delinsAAAAT (p.Thr21=)
c.159_163delinsAAAAT (p.Thr53=)
11g.13492789_13492798delinsATTTTGTAAGCA1953324722PTHc.58_67delinsCTTACAAAAT (p.Leu20=)
c.154_163delinsCTTACAAAAT (p.Leu52=)
11g.13492790T>ACA379724929PTHc.66A>T (p.Lys22Asn)
c.162A>T (p.Lys54Asn)
11g.13492790T>CCA473263416PTHc.66A>G (p.Lys22=)
c.162A>G (p.Lys54=)
11g.13492790T>GCA379724930PTHc.66A>C (p.Lys22Asn)
c.162A>C (p.Lys54Asn)
11g.13492790_13492793delCA597903305PTHc.63_66del (p.Lys22ArgfsTer11)
c.159_162del (p.Lys54ArgfsTer11)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.13492790_13492798delCA673824348PTHc.58_66del (p.Leu20_Lys22del)
c.154_162del (p.Leu52_Lys54del)
dbSNP
11g.13492791T>ACA379724931PTHc.65A>T (p.Lys22Ile)
c.161A>T (p.Lys54Ile)
11g.13492791T>CCA379724932PTHc.65A>G (p.Lys22Arg)
c.161A>G (p.Lys54Arg)
11g.13492791T>GCA379724933PTHc.65A>C (p.Lys22Thr)
c.161A>C (p.Lys54Thr)
COSMIC
11g.13492792T>ACA379724936PTHc.64A>T (p.Lys22Ter)
c.160A>T (p.Lys54Ter)
11g.13492792T>CCA379724935PTHc.64A>G (p.Lys22Glu)
c.160A>G (p.Lys54Glu)
11g.13492792T>GCA379724934PTHc.64A>C (p.Lys22Gln)
c.160A>C (p.Lys54Gln)
dbSNP
11g.13492792T=CA1953324739PTHc.64A= (p.Lys22=)
c.160A= (p.Lys54=)
11g.13492793T>ACA473263419PTHc.63A>T (p.Thr21=)
c.159A>T (p.Thr53=)
11g.13492793T>CCA473263418PTHc.63A>G (p.Thr21=)
c.159A>G (p.Thr53=)
11g.13492793T>GCA473263417PTHc.63A>C (p.Thr21=)
c.159A>C (p.Thr53=)
11g.13492794G>ACA379724937PTHc.62C>T (p.Thr21Ile)
c.158C>T (p.Thr53Ile)
dbSNP gnomAD v3 gnomAD v4
11g.13492794G>CCA379724938PTHc.62C>G (p.Thr21Arg)
c.158C>G (p.Thr53Arg)
dbSNP gnomAD v2 gnomAD v4
11g.13492794G=CA1953324746PTHc.62C= (p.Thr21=)
c.158C= (p.Thr53=)
11g.13492794G>TCA379724939PTHc.62C>A (p.Thr21Lys)
c.158C>A (p.Thr53Lys)
11g.13492794_13492797delinsGTAACA1953324749PTHc.59_62delinsTTAC (p.Leu20=)
c.155_158delinsTTAC (p.Leu52=)
11g.13492795delCA2612561065PTHc.61del (p.Thr21GlnfsTer13)
c.157del (p.Thr53GlnfsTer13)
gnomAD v4
11g.13492795T>ACA379724940PTHc.61A>T (p.Thr21Ser)
c.157A>T (p.Thr53Ser)
11g.13492795T>CCA379724941PTHc.61A>G (p.Thr21Ala)
c.157A>G (p.Thr53Ala)
11g.13492795T>GCA379724942PTHc.61A>C (p.Thr21Pro)
c.157A>C (p.Thr53Pro)
11g.13492795_13492797delCA597903306PTHc.59_61del (p.Leu20_Thr21delinsPro)
c.155_157del (p.Leu52_Thr53delinsPro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.13492796A>CCA473263421PTHc.60T>G (p.Leu20=)
c.156T>G (p.Leu52=)
11g.13492796A>GCA473263422PTHc.60T>C (p.Leu20=)
c.156T>C (p.Leu52=)
11g.13492796A>TCA473263423PTHc.60T>A (p.Leu20=)
c.156T>A (p.Leu52=)
11g.13492797A>CCA379724943PTHc.59T>G (p.Leu20Arg)
c.155T>G (p.Leu52Arg)
11g.13492797A>GCA379724945PTHc.59T>C (p.Leu20Pro)
c.155T>C (p.Leu52Pro)
dbSNP
11g.13492797A>TCA379724944PTHc.59T>A (p.Leu20His)
c.155T>A (p.Leu52His)
11g.13492798G>ACA379724946PTHc.58C>T (p.Leu20Phe)
c.154C>T (p.Leu52Phe)
COSMIC
11g.13492798G>CCA379724947PTHc.58C>G (p.Leu20Val)
c.154C>G (p.Leu52Val)
11g.13492798G>TCA379724948PTHc.58C>A (p.Leu20Ile)
c.154C>A (p.Leu52Ile)
11g.13492798_13492800delinsGAACA1953324756PTHc.56_58delinsTTC (p.Phe19=)
c.152_154delinsTTC (p.Phe51=)
11g.13492799A=CA1953324759PTHc.57T= (p.Phe19=)
c.153T= (p.Phe51=)
11g.13492799A>CCA379724949PTHc.57T>G (p.Phe19Leu)
c.153T>G (p.Phe51Leu)
11g.13492799A>GCA217889745PTHc.57T>C (p.Phe19=)
c.153T>C (p.Phe51=)
dbSNP
11g.13492799A>TCA379724950PTHc.57T>A (p.Phe19Leu)
c.153T>A (p.Phe51Leu)
11g.13492801_13492802delCA597903307PTHc.56_57del (p.Phe19SerfsTer10)
c.152_153del (p.Phe51SerfsTer10)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.13492800A=CA1953324765PTHc.56T= (p.Phe19=)
c.152T= (p.Phe51=)
11g.13492800A>CCA379724951PTHc.56T>G (p.Phe19Cys)
c.152T>G (p.Phe51Cys)
11g.13492800A>GCA217889750PTHc.56T>C (p.Phe19Ser)
c.152T>C (p.Phe51Ser)
dbSNP gnomAD v4
11g.13492800A>TCA379724952PTHc.56T>A (p.Phe19Tyr)
c.152T>A (p.Phe51Tyr)

Number of alleles fetched