Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710723A=CA1226658817AGTc.101T= (p.Leu34=)
n.612T=
c.128T= (p.Leu43=)
1g.230710723A>CCA345207659AGTc.101T>G (p.Leu34Arg)
n.612T>G
c.128T>G (p.Leu43Arg)
dbSNP gnomAD v2 gnomAD v4
1g.230710723A>GCA345207660AGTc.101T>C (p.Leu34Pro)
n.612T>C
c.128T>C (p.Leu43Pro)
1g.230710723A>TCA345207657AGTc.101T>A (p.Leu34His)
n.612T>A
c.128T>A (p.Leu43His)
1g.230710724G>ACA1448381AGTc.100C>T (p.Leu34Phe)
n.611C>T
c.127C>T (p.Leu43Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710724G>CCA345207663AGTc.100C>G (p.Leu34Val)
n.611C>G
c.127C>G (p.Leu43Val)
1g.230710724G=CA1140611018AGTc.100C= (p.Leu34=)
n.611C=
c.127C= (p.Leu43=)
1g.230710724G>TCA345207665AGTc.100C>A (p.Leu34Ile)
n.611C>A
c.127C>A (p.Leu43Ile)
1g.230710725G>ACA1448382AGTc.99C>T (p.His33=)
n.610C>T
c.126C>T (p.His42=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710725G>CCA1448383AGTc.99C>G (p.His33Gln)
n.610C>G
c.126C>G (p.His42Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710725G=CA1226658824AGTc.99C= (p.His33=)
n.610C=
c.126C= (p.His42=)
1g.230710725G>TCA345207668AGTc.99C>A (p.His33Gln)
n.610C>A
c.126C>A (p.His42Gln)
1g.230710726T>ACA345207671AGTc.98A>T (p.His33Leu)
n.609A>T
c.125A>T (p.His42Leu)
1g.230710726T>CCA345207672AGTc.98A>G (p.His33Arg)
n.609A>G
c.125A>G (p.His42Arg)
1g.230710726T>GCA345207673AGTc.98A>C (p.His33Pro)
n.609A>C
c.125A>C (p.His42Pro)
1g.230710727G>ACA345207674AGTc.97C>T (p.His33Tyr)
n.608C>T
c.124C>T (p.His42Tyr)
1g.230710727G>CCA345207676AGTc.97C>G (p.His33Asp)
n.608C>G
c.124C>G (p.His42Asp)
1g.230710727G>TCA345207678AGTc.97C>A (p.His33Asn)
n.608C>A
c.124C>A (p.His42Asn)
1g.230710728G>ACA424036990AGTc.96C>T (p.Phe32=)
n.607C>T
c.123C>T (p.Phe41=)
1g.230710728G>CCA345207679AGTc.96C>G (p.Phe32Leu)
n.607C>G
c.123C>G (p.Phe41Leu)
1g.230710728G>TCA345207681AGTc.96C>A (p.Phe32Leu)
n.607C>A
c.123C>A (p.Phe41Leu)
1g.230710729A>CCA345207686AGTc.95T>G (p.Phe32Cys)
n.606T>G
c.122T>G (p.Phe41Cys)
1g.230710729A>GCA345207685AGTc.95T>C (p.Phe32Ser)
n.606T>C
c.122T>C (p.Phe41Ser)
gnomAD v4
1g.230710729A>TCA345207683AGTc.95T>A (p.Phe32Tyr)
n.606T>A
c.122T>A (p.Phe41Tyr)
1g.230710730A>CCA345207688AGTc.94T>G (p.Phe32Val)
n.605T>G
c.121T>G (p.Phe41Val)
1g.230710730A>GCA345207690AGTc.94T>C (p.Phe32Leu)
n.605T>C
c.121T>C (p.Phe41Leu)
gnomAD v4
1g.230710730A>TCA345207692AGTc.94T>A (p.Phe32Ile)
n.605T>A
c.121T>A (p.Phe41Ile)
1g.230710731G>ACA424036993AGTc.93C>T (p.Pro31=)
n.604C>T
c.120C>T (p.Pro40=)
gnomAD v4
1g.230710731G>CCA424036994AGTc.93C>G (p.Pro31=)
n.604C>G
c.120C>G (p.Pro40=)
dbSNP gnomAD v3 gnomAD v4
1g.230710731G=CA1226658828AGTc.93C= (p.Pro31=)
n.604C=
c.120C= (p.Pro40=)
1g.230710731G>TCA424036995AGTc.93C>A (p.Pro31=)
n.604C>A
c.120C>A (p.Pro40=)
1g.230710732G>ACA1448384AGTc.92C>T (p.Pro31Leu)
n.603C>T
c.119C>T (p.Pro40Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710732G>CCA345207694AGTc.92C>G (p.Pro31Arg)
n.603C>G
c.119C>G (p.Pro40Arg)
1g.230710732G=CA1148399829AGTc.92C= (p.Pro31=)
n.603C=
c.119C= (p.Pro40=)
1g.230710732G>TCA345207696AGTc.92C>A (p.Pro31His)
n.603C>A
c.119C>A (p.Pro40His)
gnomAD v4
1g.230710733G>ACA345207698AGTc.91C>T (p.Pro31Ser)
n.602C>T
c.118C>T (p.Pro40Ser)
1g.230710733G>CCA345207700AGTc.91C>G (p.Pro31Ala)
n.602C>G
c.118C>G (p.Pro40Ala)
1g.230710733G=CA1226658839AGTc.91C= (p.Pro31=)
n.602C=
c.118C= (p.Pro40=)
1g.230710733G>TCA38872442AGTc.91C>A (p.Pro31Thr)
n.602C>A
c.118C>A (p.Pro40Thr)
dbSNP gnomAD v3 gnomAD v4
1g.230710734G>ACA1448385AGTc.90C>T (p.His30=)
n.601C>T
c.117C>T (p.His39=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710734G>CCA345207703AGTc.90C>G (p.His30Gln)
n.601C>G
c.117C>G (p.His39Gln)
1g.230710734G=CA1144110391AGTc.90C= (p.His30=)
n.601C=
c.117C= (p.His39=)
1g.230710734G>TCA345207704AGTc.90C>A (p.His30Gln)
n.601C>A
c.117C>A (p.His39Gln)
1g.230710735T>ACA345207708AGTc.89A>T (p.His30Leu)
n.600A>T
c.116A>T (p.His39Leu)
1g.230710735T>CCA38872445AGTc.89A>G (p.His30Arg)
n.600A>G
c.116A>G (p.His39Arg)
dbSNP gnomAD v4
1g.230710735T>GCA345207706AGTc.89A>C (p.His30Pro)
n.600A>C
c.116A>C (p.His39Pro)
dbSNP
1g.230710735T=CA1145147796AGTc.89A= (p.His30=)
n.600A=
c.116A= (p.His39=)
1g.230710736G>ACA345207711AGTc.88C>T (p.His30Tyr)
n.599C>T
c.115C>T (p.His39Tyr)
dbSNP gnomAD v2 gnomAD v4
1g.230710736G>CCA345207712AGTc.88C>G (p.His30Asp)
n.599C>G
c.115C>G (p.His39Asp)
1g.230710736G=CA1226658845AGTc.88C= (p.His30=)
n.599C=
c.115C= (p.His39=)

Number of alleles fetched