Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.120788677_120788757delCA2695208538TSPAN12c.753_833del (p.Asp251_Leu278delinsGlu)
c.732_812del (n.732_812del)
c.678_758del (p.Asp226_Leu253delinsGlu)
7g.120788703C>ACA369133468TSPAN12c.807G>T (p.Gln269His)
c.786G>T (n.786G>T)
c.732G>T (p.Gln244His)
 ClinVar dbSNP
7g.120788703C=CA1738876269TSPAN12c.807G= (p.Gln269=)
c.786G= (n.786G=)
c.732G= (p.Gln244=)
7g.120788703C>GCA369133470TSPAN12c.807G>C (p.Gln269His)
c.786G>C (n.786G>C)
c.732G>C (p.Gln244His)
7g.120788703C>TCA457393535TSPAN12c.807G>A (p.Gln269=)
c.786G>A (n.786G>A)
c.732G>A (p.Gln244=)
7g.120788704T>ACA369133481TSPAN12c.806A>T (p.Gln269Leu)
c.785A>T (n.785A>T)
c.731A>T (p.Gln244Leu)
7g.120788704T>CCA369133480TSPAN12c.806A>G (p.Gln269Arg)
c.785A>G (n.785A>G)
c.731A>G (p.Gln244Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.120788704T>GCA369133473TSPAN12c.806A>C (p.Gln269Pro)
c.785A>C (n.785A>C)
c.731A>C (p.Gln244Pro)
7g.120788704T=CA1738876276TSPAN12c.806A= (p.Gln269=)
c.785A= (n.785A=)
c.731A= (p.Gln244=)
7g.120788704_120788706delinsTGACA1738876275TSPAN12c.804_806delinsTCA (p.Ser268=)
c.783_785delinsTCA (n.783_785delinsTCA)
c.729_731delinsTCA (p.Ser243=)
7g.120788705G>ACA369133482TSPAN12c.805C>T (p.Gln269Ter)
c.784C>T (n.784C>T)
c.730C>T (p.Gln244Ter)
 dbSNP gnomAD v2 gnomAD v4
7g.120788705G>CCA369133484TSPAN12c.805C>G (p.Gln269Glu)
c.784C>G (n.784C>G)
c.730C>G (p.Gln244Glu)
7g.120788705G=CA1738876284TSPAN12c.805C= (p.Gln269=)
c.784C= (n.784C=)
c.730C= (p.Gln244=)
7g.120788705G>TCA4453798TSPAN12c.805C>A (p.Gln269Lys)
c.784C>A (n.784C>A)
c.730C>A (p.Gln244Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788708_120788709delCA577561365TSPAN12c.804_805del (p.Gln269AlafsTer19)
c.783_784del (n.783_784del)
c.729_730del (p.Gln244AlafsTer19)
 dbSNP gnomAD v2 gnomAD v4
7g.120788706A>CCA457393536TSPAN12c.804T>G (p.Ser268=)
c.783T>G (n.783T>G)
c.729T>G (p.Ser243=)
7g.120788706A>GCA457393537TSPAN12c.804T>C (p.Ser268=)
c.783T>C (n.783T>C)
c.729T>C (p.Ser243=)
7g.120788706A>TCA457393538TSPAN12c.804T>A (p.Ser268=)
c.783T>A (n.783T>A)
c.729T>A (p.Ser243=)
7g.120788707G>ACA369133486TSPAN12c.803C>T (p.Ser268Phe)
c.782C>T (n.782C>T)
c.728C>T (p.Ser243Phe)
 COSMIC
7g.120788707G>CCA369133488TSPAN12c.803C>G (p.Ser268Cys)
c.782C>G (n.782C>G)
c.728C>G (p.Ser243Cys)
 gnomAD v4
7g.120788707G>TCA369133490TSPAN12c.803C>A (p.Ser268Tyr)
c.782C>A (n.782C>A)
c.728C>A (p.Ser243Tyr)
7g.120788708delCA2777663990TSPAN12c.802del (p.Ser268LeufsTer9)
c.781del (n.781del)
c.727del (p.Ser243LeufsTer9)
7g.120788708A>CCA369133496TSPAN12c.802T>G (p.Ser268Ala)
c.781T>G (n.781T>G)
c.727T>G (p.Ser243Ala)
7g.120788708A>GCA369133493TSPAN12c.802T>C (p.Ser268Pro)
c.781T>C (n.781T>C)
c.727T>C (p.Ser243Pro)
7g.120788708A>TCA369133494TSPAN12c.802T>A (p.Ser268Thr)
c.781T>A (n.781T>A)
c.727T>A (p.Ser243Thr)
7g.120788709G>ACA457393539TSPAN12c.801C>T (p.Asn267=)
c.780C>T (n.780C>T)
c.726C>T (p.Asn242=)
7g.120788709G>CCA4453799TSPAN12c.801C>G (p.Asn267Lys)
c.780C>G (n.780C>G)
c.726C>G (p.Asn242Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788709G=CA1738876290TSPAN12c.801C= (p.Asn267=)
c.780C= (n.780C=)
c.726C= (p.Asn242=)
7g.120788709G>TCA369133499TSPAN12c.801C>A (p.Asn267Lys)
c.780C>A (n.780C>A)
c.726C>A (p.Asn242Lys)
7g.120788710T>ACA369133501TSPAN12c.800A>T (p.Asn267Ile)
c.779A>T (n.779A>T)
c.725A>T (p.Asn242Ile)
7g.120788710T>CCA4453800TSPAN12c.800A>G (p.Asn267Ser)
c.779A>G (n.779A>G)
c.725A>G (p.Asn242Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788710T>GCA369133504TSPAN12c.800A>C (p.Asn267Thr)
c.779A>C (n.779A>C)
c.725A>C (p.Asn242Thr)
 gnomAD v3 gnomAD v4
7g.120788710T=CA1738876297TSPAN12c.800A= (p.Asn267=)
c.779A= (n.779A=)
c.725A= (p.Asn242=)
7g.120788711T>ACA369133509TSPAN12c.799A>T (p.Asn267Tyr)
c.778A>T (n.778A>T)
c.724A>T (p.Asn242Tyr)
7g.120788711T>CCA369133506TSPAN12c.799A>G (p.Asn267Asp)
c.778A>G (n.778A>G)
c.724A>G (p.Asn242Asp)
7g.120788711T>GCA369133507TSPAN12c.799A>C (p.Asn267His)
c.778A>C (n.778A>C)
c.724A>C (p.Asn242His)
7g.120788712_120788716delCA2777663991TSPAN12c.795_799del (p.Asn265LysfsTer22)
c.774_778del (n.774_778del)
c.720_724del (p.Asn240LysfsTer22)
7g.120788712G>ACA457393540TSPAN12c.798C>T (p.Asp266=)
c.777C>T (n.777C>T)
c.723C>T (p.Asp241=)
 dbSNP
7g.120788712G>CCA369133510TSPAN12c.798C>G (p.Asp266Glu)
c.777C>G (n.777C>G)
c.723C>G (p.Asp241Glu)
7g.120788712G=CA1738876303TSPAN12c.798C= (p.Asp266=)
c.777C= (n.777C=)
c.723C= (p.Asp241=)
7g.120788712G>TCA369133511TSPAN12c.798C>A (p.Asp266Glu)
c.777C>A (n.777C>A)
c.723C>A (p.Asp241Glu)
7g.120788713T>ACA369133514TSPAN12c.797A>T (p.Asp266Val)
c.776A>T (n.776A>T)
c.722A>T (p.Asp241Val)
7g.120788713T>CCA369133516TSPAN12c.797A>G (p.Asp266Gly)
c.776A>G (n.776A>G)
c.722A>G (p.Asp241Gly)
7g.120788713T>GCA369133518TSPAN12c.797A>C (p.Asp266Ala)
c.776A>C (n.776A>C)
c.722A>C (p.Asp241Ala)
7g.120788714C>ACA369133521TSPAN12c.796G>T (p.Asp266Tyr)
c.775G>T (n.775G>T)
c.721G>T (p.Asp241Tyr)
7g.120788714C>GCA369133522TSPAN12c.796G>C (p.Asp266His)
c.775G>C (n.775G>C)
c.721G>C (p.Asp241His)
7g.120788714C>TCA369133524TSPAN12c.796G>A (p.Asp266Asn)
c.775G>A (n.775G>A)
c.721G>A (p.Asp241Asn)
7g.120788715A>CCA369133526TSPAN12c.795T>G (p.Asn265Lys)
c.774T>G (n.774T>G)
c.720T>G (p.Asn240Lys)
 gnomAD v4
7g.120788715A>GCA457393541TSPAN12c.795T>C (p.Asn265=)
c.774T>C (n.774T>C)
c.720T>C (p.Asn240=)
7g.120788715A>TCA369133528TSPAN12c.795T>A (p.Asn265Lys)
c.774T>A (n.774T>A)
c.720T>A (p.Asn240Lys)

Number of alleles fetched