Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.10622883T>ACA370300523RP1L1c.319A>T (p.Lys107Ter)
n.569A>T
8g.10622883T>CCA370300524RP1L1c.319A>G (p.Lys107Glu)
n.569A>G
8g.10622883T>GCA370300525RP1L1c.319A>C (p.Lys107Gln)
n.569A>C
8g.10622883_10622888delinsTATCAGCA1763390133RP1L1c.314_319delinsCTGATA (p.Ser105=)
n.564_569delinsCTGATA
8g.10622884A=CA1763390137RP1L1c.318T= (p.Asp106=)
n.568T=
8g.10622884A>CCA370300526RP1L1c.318T>G (p.Asp106Glu)
n.568T>G
8g.10622884A>GCA459620435RP1L1c.318T>C (p.Asp106=)
n.568T>C
dbSNP gnomAD v3 gnomAD v4
8g.10622884A>TCA370300527RP1L1c.318T>A (p.Asp106Glu)
n.568T>A
COSMIC
8g.10622885_10622889delCA580030625RP1L1c.314_318del (p.Ser105Ter)
n.564_568del
dbSNP gnomAD v2 gnomAD v4
8g.10622885T>ACA370300528RP1L1c.317A>T (p.Asp106Val)
n.567A>T
8g.10622885T>CCA370300530RP1L1c.317A>G (p.Asp106Gly)
n.567A>G
dbSNP gnomAD v2
8g.10622885T>GCA370300529RP1L1c.317A>C (p.Asp106Ala)
n.567A>C
dbSNP
8g.10622885T=CA1763390141RP1L1c.317A= (p.Asp106=)
n.567A=
8g.10622886C>ACA370300532RP1L1c.316G>T (p.Asp106Tyr)
n.566G>T
8g.10622886C>GCA370300533RP1L1c.316G>C (p.Asp106His)
n.566G>C
8g.10622886C>TCA370300534RP1L1c.316G>A (p.Asp106Asn)
n.566G>A
dbSNP
8g.10622887A>CCA459620443RP1L1c.315T>G (p.Ser105=)
n.565T>G
8g.10622887A>GCA459620446RP1L1c.315T>C (p.Ser105=)
n.565T>C
8g.10622887A>TCA459620447RP1L1c.315T>A (p.Ser105=)
n.565T>A
8g.10622888G>ACA370300535RP1L1c.314C>T (p.Ser105Phe)
n.564C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.10622888G>CCA370300536RP1L1c.314C>G (p.Ser105Cys)
n.564C>G
gnomAD v4
8g.10622888G=CA1763390143RP1L1c.314C= (p.Ser105=)
n.564C=
8g.10622888G>TCA370300537RP1L1c.314C>A (p.Ser105Tyr)
n.564C>A
8g.10622889A=CA1763390145RP1L1c.313T= (p.Ser105=)
n.563T=
8g.10622889A>CCA370300538RP1L1c.313T>G (p.Ser105Ala)
n.563T>G
8g.10622889A>GCA4625765RP1L1c.313T>C (p.Ser105Pro)
n.563T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622889A>TCA370300539RP1L1c.313T>A (p.Ser105Thr)
n.563T>A
8g.10622894_10622902delCA2686114638RP1L1c.305_313del (p.Tyr102_Cys104del)
n.555_563del
gnomAD v4
8g.10622890G>ACA459620449RP1L1c.312C>T (p.Cys104=)
n.562C>T
gnomAD v4 COSMIC
8g.10622890G>CCA370300540RP1L1c.312C>G (p.Cys104Trp)
n.562C>G
8g.10622890G>TCA370300541RP1L1c.312C>A (p.Cys104Ter)
n.562C>A
8g.10622891C>ACA370300543RP1L1c.311G>T (p.Cys104Phe)
n.561G>T
8g.10622891C=CA1763390148RP1L1c.311G= (p.Cys104=)
n.561G=
8g.10622891C>GCA370300542RP1L1c.311G>C (p.Cys104Ser)
n.561G>C
8g.10622891C>TCA4625766RP1L1c.311G>A (p.Cys104Tyr)
n.561G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.10622892A>CCA370300544RP1L1c.310T>G (p.Cys104Gly)
n.560T>G
8g.10622892A>GCA370300545RP1L1c.310T>C (p.Cys104Arg)
n.560T>C
8g.10622892A>TCA370300546RP1L1c.310T>A (p.Cys104Ser)
n.560T>A
8g.10622893G>ACA459620456RP1L1c.309C>T (p.Leu103=)
n.559C>T
gnomAD v4
8g.10622893G>CCA4625767RP1L1c.309C>G (p.Leu103=)
n.559C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622893G=CA1763390153RP1L1c.309C= (p.Leu103=)
n.559C=
8g.10622893G>TCA459620457RP1L1c.309C>A (p.Leu103=)
n.559C>A
COSMIC
8g.10622894A=CA1763390158RP1L1c.308T= (p.Leu103=)
n.558T=
8g.10622894A>CCA370300547RP1L1c.308T>G (p.Leu103Arg)
n.558T>G
8g.10622894A>GCA4625768RP1L1c.308T>C (p.Leu103Pro)
n.558T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.10622894A>TCA370300548RP1L1c.308T>A (p.Leu103His)
n.558T>A
8g.10622895G>ACA370300549RP1L1c.307C>T (p.Leu103Phe)
n.557C>T
dbSNP gnomAD v3 gnomAD v4
8g.10622895G>CCA370300550RP1L1c.307C>G (p.Leu103Val)
n.557C>G
dbSNP
8g.10622895G=CA1763390162RP1L1c.307C= (p.Leu103=)
n.557C=
8g.10622895G>TCA370300551RP1L1c.307C>A (p.Leu103Ile)
n.557C>A

Number of alleles fetched