Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.204160643_204160658delCA2573986447RENc.397_412del (p.Ser133ThrfsTer?)
c.283_298del (p.Ser95ThrfsTer?)
1g.204160654G>ACA1344947RENc.398C>T (p.Ser133Leu)
c.284C>T (p.Ser95Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204160654G>CCA344339720RENc.398C>G (p.Ser133Trp)
c.284C>G (p.Ser95Trp)
1g.204160654G=CA2482057569RENc.398C= (p.Ser133=)
c.284C= (p.Ser95=)
1g.204160654G>TCA344339723RENc.398C>A (p.Ser133Ter)
c.284C>A (p.Ser95Ter)
1g.204160655A>CCA344339726RENc.397T>G (p.Ser133Ala)
c.283T>G (p.Ser95Ala)
1g.204160655A>GCA344339727RENc.397T>C (p.Ser133Pro)
c.283T>C (p.Ser95Pro)
1g.204160655A>TCA344339730RENc.397T>A (p.Ser133Thr)
c.283T>A (p.Ser95Thr)
1g.204160656A>CCA422838124RENc.396T>G (p.Ala132=)
c.282T>G (p.Ala94=)
1g.204160656A>GCA422838125RENc.396T>C (p.Ala132=)
c.282T>C (p.Ala94=)
 gnomAD v4
1g.204160656A>TCA422838126RENc.396T>A (p.Ala132=)
c.282T>A (p.Ala94=)
1g.204160657G>ACA344339733RENc.395C>T (p.Ala132Val)
c.281C>T (p.Ala94Val)
1g.204160657G>CCA344339735RENc.395C>G (p.Ala132Gly)
c.281C>G (p.Ala94Gly)
1g.204160657G>TCA344339737RENc.395C>A (p.Ala132Asp)
c.281C>A (p.Ala94Asp)
1g.204160658C>ACA344339741RENc.394G>T (p.Ala132Ser)
c.280G>T (p.Ala94Ser)
1g.204160658C=CA2482057570RENc.394G= (p.Ala132=)
c.280G= (p.Ala94=)
1g.204160658C>GCA344339743RENc.394G>C (p.Ala132Pro)
c.280G>C (p.Ala94Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.204160658C>TCA344339745RENc.394G>A (p.Ala132Thr)
c.280G>A (p.Ala94Thr)
 gnomAD v4
1g.204160659A=CA1141970274RENc.393T= (p.Asp131=)
c.279T= (p.Asp93=)
1g.204160659A>CCA1344948RENc.393T>G (p.Asp131Glu)
c.279T>G (p.Asp93Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204160659A>GCA1344949RENc.393T>C (p.Asp131=)
c.279T>C (p.Asp93=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.204160659A>TCA344339750RENc.393T>A (p.Asp131Glu)
c.279T>A (p.Asp93Glu)
1g.204160660T>ACA344339757RENc.392A>T (p.Asp131Val)
c.278A>T (p.Asp93Val)
1g.204160660T>CCA344339755RENc.392A>G (p.Asp131Gly)
c.278A>G (p.Asp93Gly)
1g.204160660T>GCA344339753RENc.392A>C (p.Asp131Ala)
c.278A>C (p.Asp93Ala)
1g.204160661C>ACA344339760RENc.391G>T (p.Asp131Tyr)
c.277G>T (p.Asp93Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.204160661C=CA2482057571RENc.391G= (p.Asp131=)
c.277G= (p.Asp93=)
1g.204160661C>GCA344339763RENc.391G>C (p.Asp131His)
c.277G>C (p.Asp93His)
 gnomAD v4
1g.204160661C>TCA344339765RENc.391G>A (p.Asp131Asn)
c.277G>A (p.Asp93Asn)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.204160662G>ACA1344950RENc.390C>T (p.Phe130=)
c.276C>T (p.Phe92=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.204160662G>CCA344339769RENc.390C>G (p.Phe130Leu)
c.276C>G (p.Phe92Leu)
1g.204160662G=CA1144170907RENc.390C= (p.Phe130=)
c.276C= (p.Phe92=)
1g.204160662G>TCA344339772RENc.390C>A (p.Phe130Leu)
c.276C>A (p.Phe92Leu)
1g.204160663A>CCA344339775RENc.389T>G (p.Phe130Cys)
c.275T>G (p.Phe92Cys)
1g.204160663A>GCA344339777RENc.389T>C (p.Phe130Ser)
c.275T>C (p.Phe92Ser)
1g.204160663A>TCA344339779RENc.389T>A (p.Phe130Tyr)
c.275T>A (p.Phe92Tyr)
1g.204160664A>CCA344339782RENc.388T>G (p.Phe130Val)
c.274T>G (p.Phe92Val)
 gnomAD v4
1g.204160664A>GCA344339784RENc.388T>C (p.Phe130Leu)
c.274T>C (p.Phe92Leu)
1g.204160664A>TCA344339786RENc.388T>A (p.Phe130Ile)
c.274T>A (p.Phe92Ile)
1g.204160665G>ACA422838139RENc.387C>T (p.Leu129=)
c.273C>T (p.Leu91=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.204160665G>CCA422838140RENc.387C>G (p.Leu129=)
c.273C>G (p.Leu91=)
1g.204160665G=CA2482057572RENc.387C= (p.Leu129=)
c.273C= (p.Leu91=)
1g.204160665G>TCA422838141RENc.387C>A (p.Leu129=)
c.273C>A (p.Leu91=)
1g.204160666A>CCA344339793RENc.386T>G (p.Leu129Arg)
c.272T>G (p.Leu91Arg)
1g.204160666A>GCA344339792RENc.386T>C (p.Leu129Pro)
c.272T>C (p.Leu91Pro)
1g.204160666A>TCA344339789RENc.386T>A (p.Leu129His)
c.272T>A (p.Leu91His)
 COSMIC
1g.204160667G>ACA35735216RENc.385C>T (p.Leu129Phe)
c.271C>T (p.Leu91Phe)
 dbSNP
1g.204160667G>CCA344339795RENc.385C>G (p.Leu129Val)
c.271C>G (p.Leu91Val)
1g.204160667G=CA1141347634RENc.385C= (p.Leu129=)
c.271C= (p.Leu91=)
1g.204160667G>TCA344339796RENc.385C>A (p.Leu129Ile)
c.271C>A (p.Leu91Ile)

Number of alleles fetched