Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154896129_154896138delCA2695237822F8c.6370_6379del (p.Tyr2124MetfsTer16)
c.6265_6274del (p.Tyr2089MetfsTer16)
Xg.154896128A>CCA519352574F8c.6378T>G (p.Leu2126=)
c.6273T>G (p.Leu2091=)
Xg.154896128A>GCA519352572F8c.6378T>C (p.Leu2126=)
c.6273T>C (p.Leu2091=)
Xg.154896128A>TCA519352570F8c.6378T>A (p.Leu2126=)
c.6273T>A (p.Leu2091=)
Xg.154896129A=CA2466826010F8c.6377T= (p.Leu2126=)
c.6272T= (p.Leu2091=)
Xg.154896129A>CCA414899601F8c.6377T>G (p.Leu2126Arg)
c.6272T>G (p.Leu2091Arg)
Xg.154896129A>GCA414899602F8c.6377T>C (p.Leu2126Pro)
c.6272T>C (p.Leu2091Pro)
dbSNP gnomAD v4
Xg.154896129A>TCA414899605F8c.6377T>A (p.Leu2126His)
c.6272T>A (p.Leu2091His)
Xg.154896130_154896134delCA2695237823F8c.6373_6377del (p.Ser2125Ter)
c.6268_6272del (p.Ser2090Ter)
Xg.154896130G>ACA414899618F8c.6376C>T (p.Leu2126Phe)
c.6271C>T (p.Leu2091Phe)
Xg.154896130G>CCA414899609F8c.6376C>G (p.Leu2126Val)
c.6271C>G (p.Leu2091Val)
Xg.154896130G>TCA414899616F8c.6376C>A (p.Leu2126Ile)
c.6271C>A (p.Leu2091Ile)
Xg.154896131A=CA2466826011F8c.6375T= (p.Ser2125=)
c.6270T= (p.Ser2090=)
Xg.154896131A>CCA414899620F8c.6375T>G (p.Ser2125Arg)
c.6270T>G (p.Ser2090Arg)
Xg.154896131A>GCA519352587F8c.6375T>C (p.Ser2125=)
c.6270T>C (p.Ser2090=)
dbSNP gnomAD v2 gnomAD v4
Xg.154896131A>TCA414899622F8c.6375T>A (p.Ser2125Arg)
c.6270T>A (p.Ser2090Arg)
ClinVar
Xg.154896132C>ACA414899626F8c.6374G>T (p.Ser2125Ile)
c.6269G>T (p.Ser2090Ile)
Xg.154896132C=CA2466826012F8c.6374G= (p.Ser2125=)
c.6269G= (p.Ser2090=)
Xg.154896132C>GCA10567864F8c.6374G>C (p.Ser2125Thr)
c.6269G>C (p.Ser2090Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896132C>TCA414899635F8c.6374G>A (p.Ser2125Asn)
c.6269G>A (p.Ser2090Asn)
Xg.154896133T>ACA414899637F8c.6373A>T (p.Ser2125Cys)
c.6268A>T (p.Ser2090Cys)
Xg.154896133T>CCA414899641F8c.6373A>G (p.Ser2125Gly)
c.6268A>G (p.Ser2090Gly)
Xg.154896133T>GCA414899642F8c.6373A>C (p.Ser2125Arg)
c.6268A>C (p.Ser2090Arg)
Xg.154896134A>CCA414899644F8c.6372T>G (p.Tyr2124Ter)
c.6267T>G (p.Tyr2089Ter)
Xg.154896134A>GCA519352600F8c.6372T>C (p.Tyr2124=)
c.6267T>C (p.Tyr2089=)
gnomAD v4
Xg.154896134A>TCA414899645F8c.6372T>A (p.Tyr2124Ter)
c.6267T>A (p.Tyr2089Ter)
Xg.154896135T>ACA414899647F8c.6371A>T (p.Tyr2124Phe)
c.6266A>T (p.Tyr2089Phe)
Xg.154896135T>CCA255203F8c.6371A>G (p.Tyr2124Cys)
c.6266A>G (p.Tyr2089Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896135T>GCA414899653F8c.6371A>C (p.Tyr2124Ser)
c.6266A>C (p.Tyr2089Ser)
Xg.154896135T=CA2466826013F8c.6371A= (p.Tyr2124=)
c.6266A= (p.Tyr2089=)
Xg.154896136A=CA2466826014F8c.6370T= (p.Tyr2124=)
c.6265T= (p.Tyr2089=)
Xg.154896136A>CCA414899673F8c.6370T>G (p.Tyr2124Asp)
c.6265T>G (p.Tyr2089Asp)
Xg.154896136A>GCA414899674F8c.6370T>C (p.Tyr2124His)
c.6265T>C (p.Tyr2089His)
Xg.154896136A>TCA414899656F8c.6370T>A (p.Tyr2124Asn)
c.6265T>A (p.Tyr2089Asn)
dbSNP
Xg.154896137C>ACA414899679F8c.6369G>T (p.Met2123Ile)
c.6264G>T (p.Met2088Ile)
Xg.154896137C=CA2466826015F8c.6369G= (p.Met2123=)
c.6264G= (p.Met2088=)
Xg.154896137C>GCA414899676F8c.6369G>C (p.Met2123Ile)
c.6264G>C (p.Met2088Ile)
Xg.154896137C>TCA10567865F8c.6369G>A (p.Met2123Ile)
c.6264G>A (p.Met2088Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154896138A=CA2466826016F8c.6368T= (p.Met2123=)
c.6263T= (p.Met2088=)
Xg.154896138A>CCA414899683F8c.6368T>G (p.Met2123Arg)
c.6263T>G (p.Met2088Arg)
Xg.154896138A>GCA10567866F8c.6368T>C (p.Met2123Thr)
c.6263T>C (p.Met2088Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154896138A>TCA414899684F8c.6368T>A (p.Met2123Lys)
c.6263T>A (p.Met2088Lys)
Xg.154896139T>ACA414899687F8c.6367A>T (p.Met2123Leu)
c.6262A>T (p.Met2088Leu)
Xg.154896139T>CCA414899689F8c.6367A>G (p.Met2123Val)
c.6262A>G (p.Met2088Val)
gnomAD v4
Xg.154896139T>GCA414899692F8c.6367A>C (p.Met2123Leu)
c.6262A>C (p.Met2088Leu)
Xg.154896140G>ACA519352626F8c.6366C>T (p.Ile2122=)
c.6261C>T (p.Ile2087=)
Xg.154896140G>CCA414899701F8c.6366C>G (p.Ile2122Met)
c.6261C>G (p.Ile2087Met)
Xg.154896140G>TCA519352629F8c.6366C>A (p.Ile2122=)
c.6261C>A (p.Ile2087=)
Xg.154896141A>CCA414899702F8c.6365T>G (p.Ile2122Ser)
c.6260T>G (p.Ile2087Ser)
Xg.154896141A>GCA414899703F8c.6365T>C (p.Ile2122Thr)
c.6260T>C (p.Ile2087Thr)

Number of alleles fetched