Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.120788669_120788678delCA2695208537TSPAN12c.833_842del (p.Leu278GlnfsTer?)
c.812_821del (n.812_821del)
c.758_767del (p.Leu253GlnfsTer?)
7g.120788677delCA2684641444TSPAN12c.833del (p.Leu278ArgfsTer2)
c.812del (n.812del)
c.758del (p.Leu253ArgfsTer2)
 gnomAD v4
7g.120788677A=CA1738876196TSPAN12c.833T= (p.Leu278=)
c.812T= (n.812T=)
c.758T= (p.Leu253=)
7g.120788677A>CCA369133365TSPAN12c.833T>G (p.Leu278Arg)
c.812T>G (n.812T>G)
c.758T>G (p.Leu253Arg)
7g.120788677A>GCA4453793TSPAN12c.833T>C (p.Leu278Pro)
c.812T>C (n.812T>C)
c.758T>C (p.Leu253Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788677A>TCA369133367TSPAN12c.833T>A (p.Leu278Gln)
c.812T>A (n.812T>A)
c.758T>A (p.Leu253Gln)
7g.120788677_120788757delCA2695208538TSPAN12c.753_833del (p.Asp251_Leu278delinsGlu)
c.732_812del (n.732_812del)
c.678_758del (p.Asp226_Leu253delinsGlu)
7g.120788678G>ACA457393517TSPAN12c.832C>T (p.Leu278=)
c.811C>T (n.811C>T)
c.757C>T (p.Leu253=)
7g.120788678G>CCA369133370TSPAN12c.832C>G (p.Leu278Val)
c.811C>G (n.811C>G)
c.757C>G (p.Leu253Val)
7g.120788678G=CA1738876206TSPAN12c.832C= (p.Leu278=)
c.811C= (n.811C=)
c.757C= (p.Leu253=)
7g.120788678G>TCA4453794TSPAN12c.832C>A (p.Leu278Met)
c.811C>A (n.811C>A)
c.757C>A (p.Leu253Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788679T>ACA369133373TSPAN12c.831A>T (p.Glu277Asp)
c.810A>T (n.810A>T)
c.756A>T (p.Glu252Asp)
 dbSNP gnomAD v2 gnomAD v4
7g.120788679T>CCA457393518TSPAN12c.831A>G (p.Glu277=)
c.810A>G (n.810A>G)
c.756A>G (p.Glu252=)
 gnomAD v4
7g.120788679T>GCA369133374TSPAN12c.831A>C (p.Glu277Asp)
c.810A>C (n.810A>C)
c.756A>C (p.Glu252Asp)
7g.120788679T=CA1738876212TSPAN12c.831A= (p.Glu277=)
c.810A= (n.810A=)
c.756A= (p.Glu252=)
7g.120788680T>ACA369133377TSPAN12c.830A>T (p.Glu277Val)
c.809A>T (n.809A>T)
c.755A>T (p.Glu252Val)
7g.120788680T>CCA369133379TSPAN12c.830A>G (p.Glu277Gly)
c.809A>G (n.809A>G)
c.755A>G (p.Glu252Gly)
7g.120788680T>GCA369133380TSPAN12c.830A>C (p.Glu277Ala)
c.809A>C (n.809A>C)
c.755A>C (p.Glu252Ala)
7g.120788681C>ACA369133381TSPAN12c.829G>T (p.Glu277Ter)
c.808G>T (n.808G>T)
c.754G>T (p.Glu252Ter)
7g.120788681C=CA1738876215TSPAN12c.829G= (p.Glu277=)
c.808G= (n.808G=)
c.754G= (p.Glu252=)
7g.120788681C>GCA369133382TSPAN12c.829G>C (p.Glu277Gln)
c.808G>C (n.808G>C)
c.754G>C (p.Glu252Gln)
 dbSNP gnomAD v2 gnomAD v4
7g.120788681C>TCA369133383TSPAN12c.829G>A (p.Glu277Lys)
c.808G>A (n.808G>A)
c.754G>A (p.Glu252Lys)
 dbSNP gnomAD v3 gnomAD v4
7g.120788683_120788685delCA2579001717TSPAN12c.827_829del (p.Val276del)
c.806_808del (n.806_808del)
c.752_754del (p.Val251del)
7g.120788682T>ACA457393519TSPAN12c.828A>T (p.Val276=)
c.807A>T (n.807A>T)
c.753A>T (p.Val251=)
7g.120788682T>CCA457393520TSPAN12c.828A>G (p.Val276=)
c.807A>G (n.807A>G)
c.753A>G (p.Val251=)
7g.120788682T>GCA457393521TSPAN12c.828A>C (p.Val276=)
c.807A>C (n.807A>C)
c.753A>C (p.Val251=)
7g.120788683A=CA1738876218TSPAN12c.827T= (p.Val276=)
c.806T= (n.806T=)
c.752T= (p.Val251=)
7g.120788683A>CCA369133384TSPAN12c.827T>G (p.Val276Gly)
c.806T>G (n.806T>G)
c.752T>G (p.Val251Gly)
7g.120788683A>GCA165834841TSPAN12c.827T>C (p.Val276Ala)
c.806T>C (n.806T>C)
c.752T>C (p.Val251Ala)
 dbSNP gnomAD v4
7g.120788683A>TCA369133386TSPAN12c.827T>A (p.Val276Glu)
c.806T>A (n.806T>A)
c.752T>A (p.Val251Glu)
7g.120788684C>ACA369133388TSPAN12c.826G>T (p.Val276Leu)
c.805G>T (n.805G>T)
c.751G>T (p.Val251Leu)
7g.120788684C>GCA369133391TSPAN12c.826G>C (p.Val276Leu)
c.805G>C (n.805G>C)
c.751G>C (p.Val251Leu)
7g.120788684C>TCA369133389TSPAN12c.826G>A (p.Val276Ile)
c.805G>A (n.805G>A)
c.751G>A (p.Val251Ile)
7g.120788685T>ACA457393522TSPAN12c.825A>T (p.Ser275=)
c.804A>T (n.804A>T)
c.750A>T (p.Ser250=)
7g.120788685T>CCA4453795TSPAN12c.825A>G (p.Ser275=)
c.804A>G (n.804A>G)
c.750A>G (p.Ser250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788685T>GCA457393523TSPAN12c.825A>C (p.Ser275=)
c.804A>C (n.804A>C)
c.750A>C (p.Ser250=)
7g.120788685T=CA1738876226TSPAN12c.825A= (p.Ser275=)
c.804A= (n.804A=)
c.750A= (p.Ser250=)
7g.120788686G>ACA369133394TSPAN12c.824C>T (p.Ser275Leu)
c.803C>T (n.803C>T)
c.749C>T (p.Ser250Leu)
 gnomAD v4
7g.120788686G>CCA369133396TSPAN12c.824C>G (p.Ser275Ter)
c.803C>G (n.803C>G)
c.749C>G (p.Ser250Ter)
7g.120788686G>TCA369133398TSPAN12c.824C>A (p.Ser275Ter)
c.803C>A (n.803C>A)
c.749C>A (p.Ser250Ter)
7g.120788687A>CCA369133400TSPAN12c.823T>G (p.Ser275Ala)
c.802T>G (n.802T>G)
c.748T>G (p.Ser250Ala)
7g.120788687A>GCA369133401TSPAN12c.823T>C (p.Ser275Pro)
c.802T>C (n.802T>C)
c.748T>C (p.Ser250Pro)
7g.120788687A>TCA369133404TSPAN12c.823T>A (p.Ser275Thr)
c.802T>A (n.802T>A)
c.748T>A (p.Ser250Thr)
7g.120788688G>ACA457393526TSPAN12c.822C>T (p.Pro274=)
c.801C>T (n.801C>T)
c.747C>T (p.Pro249=)
 gnomAD v4
7g.120788688G>CCA457393525TSPAN12c.822C>G (p.Pro274=)
c.801C>G (n.801C>G)
c.747C>G (p.Pro249=)
7g.120788688G>TCA457393524TSPAN12c.822C>A (p.Pro274=)
c.801C>A (n.801C>A)
c.747C>A (p.Pro249=)
7g.120788689G>ACA369133406TSPAN12c.821C>T (p.Pro274Leu)
c.800C>T (n.800C>T)
c.746C>T (p.Pro249Leu)
 gnomAD v4
7g.120788689G>CCA369133407TSPAN12c.821C>G (p.Pro274Arg)
c.800C>G (n.800C>G)
c.746C>G (p.Pro249Arg)
7g.120788689G>TCA369133409TSPAN12c.821C>A (p.Pro274His)
c.800C>A (n.800C>A)
c.746C>A (p.Pro249His)
7g.120788690G>ACA369133413TSPAN12c.820C>T (p.Pro274Ser)
c.799C>T (n.799C>T)
c.745C>T (p.Pro249Ser)
 gnomAD v4

Number of alleles fetched