Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.120810425T>CCA2684641744TSPAN12c.468+38A>G (n.468+38A>G)
c.447+38A>G (n.447+38A>G)
c.393+38A>G (n.393+38A>G)
 gnomAD v4
7g.120810426A=CA1738860522TSPAN12c.468+37T= (n.468+37T=)
c.447+37T= (n.447+37T=)
c.393+37T= (n.393+37T=)
7g.120810426A>GCA4453882TSPAN12c.468+37T>C (n.468+37T>C)
c.447+37T>C (n.447+37T>C)
c.393+37T>C (n.393+37T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810426A>TCA2579001811TSPAN12c.468+37T>A (n.468+37T>A)
c.447+37T>A (n.447+37T>A)
c.393+37T>A (n.393+37T>A)
 gnomAD v4
7g.120810427C>ACA577566202TSPAN12c.468+36G>T (n.468+36G>T)
c.447+36G>T (n.447+36G>T)
c.393+36G>T (n.393+36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810427C=CA1738860525TSPAN12c.468+36G= (n.468+36G=)
c.447+36G= (n.447+36G=)
c.393+36G= (n.393+36G=)
7g.120810427C>TCA4453883TSPAN12c.468+36G>A (n.468+36G>A)
c.447+36G>A (n.447+36G>A)
c.393+36G>A (n.393+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810428T>CCA2579001812TSPAN12c.468+35A>G (n.468+35A>G)
c.447+35A>G (n.447+35A>G)
c.393+35A>G (n.393+35A>G)
 gnomAD v4
7g.120810428T>GCA2579001813TSPAN12c.468+35A>C (n.468+35A>C)
c.447+35A>C (n.447+35A>C)
c.393+35A>C (n.393+35A>C)
7g.120810430C>ACA4453885TSPAN12c.468+33G>T (n.468+33G>T)
c.447+33G>T (n.447+33G>T)
c.393+33G>T (n.393+33G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810430C=CA1738860529TSPAN12c.468+33G= (n.468+33G=)
c.447+33G= (n.447+33G=)
c.393+33G= (n.393+33G=)
7g.120810430C>TCA4453884TSPAN12c.468+33G>A (n.468+33G>A)
c.447+33G>A (n.447+33G>A)
c.393+33G>A (n.393+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810431_120810432delCA2579001814TSPAN12c.468+32_468+33del (n.468+32_468+33del)
c.447+32_447+33del (n.447+32_447+33del)
c.393+32_393+33del (n.393+32_393+33del)
7g.120810430_120810431insTCTTACTTCTGAGGTCA1738860532TSPAN12c.468+32_468+33insACCTCAGAAGTAAGA (n.468+32_468+33insACCTCAGAAGTAAGA)
c.447+32_447+33insACCTCAGAAGTAAGA (n.447+32_447+33insACCTCAGAAGTAAGA)
c.393+32_393+33insACCTCAGAAGTAAGA (n.393+32_393+33insACCTCAGAAGTAAGA)
 dbSNP gnomAD v4
7g.120810431A>GCA2684641745TSPAN12c.468+32T>C (n.468+32T>C)
c.447+32T>C (n.447+32T>C)
c.393+32T>C (n.393+32T>C)
 gnomAD v4
7g.120810431A>TCA2579001815TSPAN12c.468+32T>A (n.468+32T>A)
c.447+32T>A (n.447+32T>A)
c.393+32T>A (n.393+32T>A)
 gnomAD v4
7g.120810431_120810435delinsACTCTCA1738860533TSPAN12c.468+28_468+32delinsAGAGT (n.468+28_468+32delinsAGAGT)
c.447+28_447+32delinsAGAGT (n.447+28_447+32delinsAGAGT)
c.393+28_393+32delinsAGAGT (n.393+28_393+32delinsAGAGT)
7g.120810432C>ACA2579001816TSPAN12c.468+31G>T (n.468+31G>T)
c.447+31G>T (n.447+31G>T)
c.393+31G>T (n.393+31G>T)
 gnomAD v4
7g.120810432C=CA1738860538TSPAN12c.468+31G= (n.468+31G=)
c.447+31G= (n.447+31G=)
c.393+31G= (n.393+31G=)
7g.120810432C>TCA4453886TSPAN12c.468+31G>A (n.468+31G>A)
c.447+31G>A (n.447+31G>A)
c.393+31G>A (n.393+31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810438_120810439delCA577566207TSPAN12c.468+30_468+31del (n.468+30_468+31del)
c.447+30_447+31del (n.447+30_447+31del)
c.393+30_393+31del (n.393+30_393+31del)
 dbSNP gnomAD v2 gnomAD v4
7g.120810436_120810439delCA577566206TSPAN12c.468+28_468+31del (n.468+28_468+31del)
c.447+28_447+31del (n.447+28_447+31del)
c.393+28_393+31del (n.393+28_393+31del)
 dbSNP gnomAD v2 gnomAD v4
7g.120810434C>ACA2684641747TSPAN12c.468+29G>T (n.468+29G>T)
c.447+29G>T (n.447+29G>T)
c.393+29G>T (n.393+29G>T)
 gnomAD v4
7g.120810434_120810447delCA2684641746TSPAN12c.468+16_468+29del (n.468+16_468+29del)
c.447+16_447+29del (n.447+16_447+29del)
c.393+16_393+29del (n.393+16_393+29del)
 gnomAD v4
7g.120810436C=CA1738860544TSPAN12c.468+27G= (n.468+27G=)
c.447+27G= (n.447+27G=)
c.393+27G= (n.393+27G=)
7g.120810436C>TCA577566210TSPAN12c.468+27G>A (n.468+27G>A)
c.447+27G>A (n.447+27G>A)
c.393+27G>A (n.393+27G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.120810438C>GCA2684641748TSPAN12c.468+25G>C (n.468+25G>C)
c.447+25G>C (n.447+25G>C)
c.393+25G>C (n.393+25G>C)
 gnomAD v4
7g.120810440A=CA1738860546TSPAN12c.468+23T= (n.468+23T=)
c.447+23T= (n.447+23T=)
c.393+23T= (n.393+23T=)
7g.120810440A>GCA165837045TSPAN12c.468+23T>C (n.468+23T>C)
c.447+23T>C (n.447+23T>C)
c.393+23T>C (n.393+23T>C)
 dbSNP gnomAD v3 gnomAD v4
7g.120810440A>TCA2684641749TSPAN12c.468+23T>A (n.468+23T>A)
c.447+23T>A (n.447+23T>A)
c.393+23T>A (n.393+23T>A)
 gnomAD v4
7g.120810441C>GCA2579001817TSPAN12c.468+22G>C (n.468+22G>C)
c.447+22G>C (n.447+22G>C)
c.393+22G>C (n.393+22G>C)
7g.120810447A=CA1738860549TSPAN12c.468+16T= (n.468+16T=)
c.447+16T= (n.447+16T=)
c.393+16T= (n.393+16T=)
7g.120810447A>CCA651960741TSPAN12c.468+16T>G (n.468+16T>G)
c.447+16T>G (n.447+16T>G)
c.393+16T>G (n.393+16T>G)
 COSMIC
7g.120810447A>GCA832457825TSPAN12c.468+16T>C (n.468+16T>C)
c.447+16T>C (n.447+16T>C)
c.393+16T>C (n.393+16T>C)
 dbSNP gnomAD v3 gnomAD v4
7g.120810450T>CCA165837046TSPAN12c.468+13A>G (n.468+13A>G)
c.447+13A>G (n.447+13A>G)
c.393+13A>G (n.393+13A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810450T=CA1738860551TSPAN12c.468+13A= (n.468+13A=)
c.447+13A= (n.447+13A=)
c.393+13A= (n.393+13A=)
7g.120810451T>CCA2684641750TSPAN12c.468+12A>G (n.468+12A>G)
c.447+12A>G (n.447+12A>G)
c.393+12A>G (n.393+12A>G)
 gnomAD v4
7g.120810452G>ACA2684641751TSPAN12c.468+11C>T (n.468+11C>T)
c.447+11C>T (n.447+11C>T)
c.393+11C>T (n.393+11C>T)
 gnomAD v4
7g.120810452G>TCA2684641752TSPAN12c.468+11C>A (n.468+11C>A)
c.447+11C>A (n.447+11C>A)
c.393+11C>A (n.393+11C>A)
 gnomAD v4
7g.120810453T>ACA832457829TSPAN12c.468+10A>T (n.468+10A>T)
c.447+10A>T (n.447+10A>T)
c.393+10A>T (n.393+10A>T)
 dbSNP gnomAD v3 gnomAD v4
7g.120810453T>CCA2684641753TSPAN12c.468+10A>G (n.468+10A>G)
c.447+10A>G (n.447+10A>G)
c.393+10A>G (n.393+10A>G)
 gnomAD v4
7g.120810453T=CA1738860553TSPAN12c.468+10A= (n.468+10A=)
c.447+10A= (n.447+10A=)
c.393+10A= (n.393+10A=)
7g.120810454A>GCA2579001818TSPAN12c.468+9T>C (n.468+9T>C)
c.447+9T>C (n.447+9T>C)
c.393+9T>C (n.393+9T>C)
 gnomAD v4
7g.120810454A>TCA2684641754TSPAN12c.468+9T>A (n.468+9T>A)
c.447+9T>A (n.447+9T>A)
c.393+9T>A (n.393+9T>A)
 gnomAD v4
7g.120810455G>TCA2684641755TSPAN12c.468+8C>A (n.468+8C>A)
c.447+8C>A (n.447+8C>A)
c.393+8C>A (n.393+8C>A)
 gnomAD v4
7g.120810456C=CA1738860556TSPAN12c.468+7G= (n.468+7G=)
c.447+7G= (n.447+7G=)
c.393+7G= (n.393+7G=)
7g.120810456C>GCA1738860557TSPAN12c.468+7G>C (n.468+7G>C)
c.447+7G>C (n.447+7G>C)
c.393+7G>C (n.393+7G>C)
 dbSNP
7g.120810456C>TCA2684641756TSPAN12c.468+7G>A (n.468+7G>A)
c.447+7G>A (n.447+7G>A)
c.393+7G>A (n.393+7G>A)
 gnomAD v4
7g.120810458C>TCA2684641757TSPAN12c.468+5G>A (n.468+5G>A)
c.447+5G>A (n.447+5G>A)
c.393+5G>A (n.393+5G>A)
 gnomAD v4
7g.120810459T>ACA2715751333TSPAN12c.468+4A>T (n.468+4A>T)
c.447+4A>T (n.447+4A>T)
c.393+4A>T (n.393+4A>T)
 dbSNP
7g.120810460T>CCA165837047TSPAN12c.468+3A>G (n.468+3A>G)
c.447+3A>G (n.447+3A>G)
c.393+3A>G (n.393+3A>G)
 dbSNP gnomAD v3 gnomAD v4
7g.120810460T=CA1738860558TSPAN12c.468+3A= (n.468+3A=)
c.447+3A= (n.447+3A=)
c.393+3A= (n.393+3A=)
7g.120810461A>CCA369137238TSPAN12c.468+2T>G (n.468+2T>G)
c.447+2T>G (n.447+2T>G)
c.393+2T>G (n.393+2T>G)
7g.120810461A>GCA369137235TSPAN12c.468+2T>C (n.468+2T>C)
c.447+2T>C (n.447+2T>C)
c.393+2T>C (n.393+2T>C)
 gnomAD v4
7g.120810461A>TCA369137240TSPAN12c.468+2T>A (n.468+2T>A)
c.447+2T>A (n.447+2T>A)
c.393+2T>A (n.393+2T>A)
7g.120810462C>ACA369137244TSPAN12c.468+1G>T (n.468+1G>T)
c.447+1G>T (n.447+1G>T)
c.393+1G>T (n.393+1G>T)
7g.120810462C=CA1738860563TSPAN12c.468+1G= (n.468+1G=)
c.447+1G= (n.447+1G=)
c.393+1G= (n.393+1G=)
7g.120810462C>GCA369137247TSPAN12c.468+1G>C (n.468+1G>C)
c.447+1G>C (n.447+1G>C)
c.393+1G>C (n.393+1G>C)
7g.120810462C>TCA4453887TSPAN12c.468+1G>A (n.468+1G>A)
c.447+1G>A (n.447+1G>A)
c.393+1G>A (n.393+1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810463C>ACA369137253TSPAN12c.468G>T (p.Glu156Asp)
c.447G>T (n.447G>T)
c.393G>T (p.Glu131Asp)
 COSMIC
7g.120810463C=CA1738860565TSPAN12c.468G= (p.Glu156=)
c.447G= (n.447G=)
c.393G= (p.Glu131=)
7g.120810463C>GCA4453888TSPAN12c.468G>C (p.Glu156Asp)
c.447G>C (n.447G>C)
c.393G>C (p.Glu131Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810463C>TCA457395194TSPAN12c.468G>A (p.Glu156=)
c.447G>A (n.447G>A)
c.393G>A (p.Glu131=)
 gnomAD v4
7g.120810469_120810470delCA2695208396TSPAN12c.467_468del (p.Glu156ValfsTer2)
c.446_447del (n.446_447del)
c.392_393del (p.Glu131ValfsTer2)
7g.120810464T>ACA369137259TSPAN12c.467A>T (p.Glu156Val)
c.446A>T (n.446A>T)
c.392A>T (p.Glu131Val)
7g.120810464T>CCA369137262TSPAN12c.467A>G (p.Glu156Gly)
c.446A>G (n.446A>G)
c.392A>G (p.Glu131Gly)
 gnomAD v4
7g.120810464T>GCA369137265TSPAN12c.467A>C (p.Glu156Ala)
c.446A>C (n.446A>C)
c.392A>C (p.Glu131Ala)
 gnomAD v2
7g.120810465C>ACA369137269TSPAN12c.466G>T (p.Glu156Ter)
c.445G>T (n.445G>T)
c.391G>T (p.Glu131Ter)
 gnomAD v4
7g.120810465C>GCA369137270TSPAN12c.466G>C (p.Glu156Gln)
c.445G>C (n.445G>C)
c.391G>C (p.Glu131Gln)
 gnomAD v4
7g.120810465C>TCA369137272TSPAN12c.466G>A (p.Glu156Lys)
c.445G>A (n.445G>A)
c.391G>A (p.Glu131Lys)
 gnomAD v4
7g.120810466T>ACA369137275TSPAN12c.465A>T (p.Arg155Ser)
c.444A>T (n.444A>T)
c.390A>T (p.Arg130Ser)
7g.120810466T>CCA457395201TSPAN12c.465A>G (p.Arg155=)
c.444A>G (n.444A>G)
c.390A>G (p.Arg130=)
7g.120810466T>GCA369137278TSPAN12c.465A>C (p.Arg155Ser)
c.444A>C (n.444A>C)
c.390A>C (p.Arg130Ser)
7g.120810467C>ACA369137281TSPAN12c.464G>T (p.Arg155Ile)
c.443G>T (n.443G>T)
c.389G>T (p.Arg130Ile)
 gnomAD v4
7g.120810467C=CA1738860572TSPAN12c.464G= (p.Arg155=)
c.443G= (n.443G=)
c.389G= (p.Arg130=)
7g.120810467C>GCA4453889TSPAN12c.464G>C (p.Arg155Thr)
c.443G>C (n.443G>C)
c.389G>C (p.Arg130Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810467C>TCA369137284TSPAN12c.464G>A (p.Arg155Lys)
c.443G>A (n.443G>A)
c.389G>A (p.Arg130Lys)
7g.120810468T>ACA369137288TSPAN12c.463A>T (p.Arg155Ter)
c.442A>T (n.442A>T)
c.388A>T (p.Arg130Ter)
7g.120810468T>CCA369137290TSPAN12c.463A>G (p.Arg155Gly)
c.442A>G (n.442A>G)
c.388A>G (p.Arg130Gly)
 gnomAD v4
7g.120810468T>GCA457395213TSPAN12c.463A>C (p.Arg155=)
c.442A>C (n.442A>C)
c.388A>C (p.Arg130=)
7g.120810469C>ACA369137293TSPAN12c.462G>T (p.Gln154His)
c.441G>T (n.441G>T)
c.387G>T (p.Gln129His)
7g.120810469C>GCA369137296TSPAN12c.462G>C (p.Gln154His)
c.441G>C (n.441G>C)
c.387G>C (p.Gln129His)
7g.120810469C>TCA457395218TSPAN12c.462G>A (p.Gln154=)
c.441G>A (n.441G>A)
c.387G>A (p.Gln129=)
7g.120810470T>ACA369137300TSPAN12c.461A>T (p.Gln154Leu)
c.440A>T (n.440A>T)
c.386A>T (p.Gln129Leu)
7g.120810470T>CCA369137303TSPAN12c.461A>G (p.Gln154Arg)
c.440A>G (n.440A>G)
c.386A>G (p.Gln129Arg)
7g.120810470T>GCA369137305TSPAN12c.461A>C (p.Gln154Pro)
c.440A>C (n.440A>C)
c.386A>C (p.Gln129Pro)
7g.120810470_120810471delinsTGCA1738860576TSPAN12c.460_461delinsCA (p.Gln154=)
c.439_440delinsCA (n.439_440delinsCA)
c.385_386delinsCA (p.Gln129=)
7g.120810471delCA916082950TSPAN12c.460del (p.Gln154ArgfsTer9)
c.439del (n.439del)
c.385del (p.Gln129ArgfsTer9)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.120810471G>ACA165837048TSPAN12c.460C>T (p.Gln154Ter)
c.439C>T (n.439C>T)
c.385C>T (p.Gln129Ter)
 dbSNP COSMIC
7g.120810471G>CCA369137310TSPAN12c.460C>G (p.Gln154Glu)
c.439C>G (n.439C>G)
c.385C>G (p.Gln129Glu)
 gnomAD v4
7g.120810471G=CA1738860587TSPAN12c.460C= (p.Gln154=)
c.439C= (n.439C=)
c.385C= (p.Gln129=)
7g.120810471G>TCA369137313TSPAN12c.460C>A (p.Gln154Lys)
c.439C>A (n.439C>A)
c.385C>A (p.Gln129Lys)
7g.120810472A>CCA369137319TSPAN12c.459T>G (p.Phe153Leu)
c.438T>G (n.438T>G)
c.384T>G (p.Phe128Leu)
7g.120810472A>GCA457395228TSPAN12c.459T>C (p.Phe153=)
c.438T>C (n.438T>C)
c.384T>C (p.Phe128=)
7g.120810472A>TCA369137316TSPAN12c.459T>A (p.Phe153Leu)
c.438T>A (n.438T>A)
c.384T>A (p.Phe128Leu)
7g.120810478dupCA1139660224TSPAN12c.459dup (p.Gln154SerfsTer5)
c.438dup (n.438dup)
c.384dup (p.Gln129SerfsTer5)
 ClinVar dbSNP gnomAD v4
7g.120810478delCA645552022TSPAN12c.459del (p.Gln154ArgfsTer9)
c.438del (n.438del)
c.384del (p.Gln129ArgfsTer9)
 gnomAD v4 COSMIC
7g.120810473A>CCA369137322TSPAN12c.458T>G (p.Phe153Cys)
c.437T>G (n.437T>G)
c.383T>G (p.Phe128Cys)
7g.120810473A>GCA369137324TSPAN12c.458T>C (p.Phe153Ser)
c.437T>C (n.437T>C)
c.383T>C (p.Phe128Ser)
7g.120810473A>TCA369137326TSPAN12c.458T>A (p.Phe153Tyr)
c.437T>A (n.437T>A)
c.383T>A (p.Phe128Tyr)
7g.120810474A=CA1738860599TSPAN12c.457T= (p.Phe153=)
c.436T= (n.436T=)
c.382T= (p.Phe128=)
7g.120810474A>CCA369137329TSPAN12c.457T>G (p.Phe153Val)
c.436T>G (n.436T>G)
c.382T>G (p.Phe128Val)
7g.120810474A>GCA10628157TSPAN12c.457T>C (p.Phe153Leu)
c.436T>C (n.436T>C)
c.382T>C (p.Phe128Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810474A>TCA369137334TSPAN12c.457T>A (p.Phe153Ile)
c.436T>A (n.436T>A)
c.382T>A (p.Phe128Ile)
7g.120810475A=CA1738860604TSPAN12c.456T= (p.Phe152=)
c.435T= (n.435T=)
c.381T= (p.Phe127=)
7g.120810475A>CCA369137336TSPAN12c.456T>G (p.Phe152Leu)
c.435T>G (n.435T>G)
c.381T>G (p.Phe127Leu)
7g.120810475A>GCA457395239TSPAN12c.456T>C (p.Phe152=)
c.435T>C (n.435T>C)
c.381T>C (p.Phe127=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810475A>TCA369137339TSPAN12c.456T>A (p.Phe152Leu)
c.435T>A (n.435T>A)
c.381T>A (p.Phe127Leu)
 gnomAD v4
7g.120810476A>CCA369137343TSPAN12c.455T>G (p.Phe152Cys)
c.434T>G (n.434T>G)
c.380T>G (p.Phe127Cys)
7g.120810476A>GCA369137346TSPAN12c.455T>C (p.Phe152Ser)
c.434T>C (n.434T>C)
c.380T>C (p.Phe127Ser)
7g.120810476A>TCA369137350TSPAN12c.455T>A (p.Phe152Tyr)
c.434T>A (n.434T>A)
c.380T>A (p.Phe127Tyr)
7g.120810477A>CCA369137352TSPAN12c.454T>G (p.Phe152Val)
c.433T>G (n.433T>G)
c.379T>G (p.Phe127Val)
7g.120810477A>GCA369137355TSPAN12c.454T>C (p.Phe152Leu)
c.433T>C (n.433T>C)
c.379T>C (p.Phe127Leu)
7g.120810477A>TCA369137357TSPAN12c.454T>A (p.Phe152Ile)
c.433T>A (n.433T>A)
c.379T>A (p.Phe127Ile)
 gnomAD v4
7g.120810478A>CCA369137359TSPAN12c.453T>G (p.Asn151Lys)
c.432T>G (n.432T>G)
c.378T>G (p.Asn126Lys)
7g.120810478A>GCA457395244TSPAN12c.453T>C (p.Asn151=)
c.432T>C (n.432T>C)
c.378T>C (p.Asn126=)
7g.120810478A>TCA369137361TSPAN12c.453T>A (p.Asn151Lys)
c.432T>A (n.432T>A)
c.378T>A (p.Asn126Lys)
7g.120810479T>ACA369137365TSPAN12c.452A>T (p.Asn151Ile)
c.431A>T (n.431A>T)
c.377A>T (p.Asn126Ile)
7g.120810479T>CCA369137367TSPAN12c.452A>G (p.Asn151Ser)
c.431A>G (n.431A>G)
c.377A>G (p.Asn126Ser)
7g.120810479T>GCA369137370TSPAN12c.452A>C (p.Asn151Thr)
c.431A>C (n.431A>C)
c.377A>C (p.Asn126Thr)
7g.120810480T>ACA369137374TSPAN12c.451A>T (p.Asn151Tyr)
c.430A>T (n.430A>T)
c.376A>T (p.Asn126Tyr)
7g.120810480T>CCA369137377TSPAN12c.451A>G (p.Asn151Asp)
c.430A>G (n.430A>G)
c.376A>G (p.Asn126Asp)
7g.120810480T>GCA369137381TSPAN12c.451A>C (p.Asn151His)
c.430A>C (n.430A>C)
c.376A>C (p.Asn126His)
7g.120810481C>ACA369137384TSPAN12c.450G>T (p.Trp150Cys)
c.429G>T (n.429G>T)
c.375G>T (p.Trp125Cys)
7g.120810481C>GCA369137386TSPAN12c.450G>C (p.Trp150Cys)
c.429G>C (n.429G>C)
c.375G>C (p.Trp125Cys)
7g.120810481C>TCA369137389TSPAN12c.450G>A (p.Trp150Ter)
c.429G>A (n.429G>A)
c.375G>A (p.Trp125Ter)
7g.120810482C>ACA369137392TSPAN12c.449G>T (p.Trp150Leu)
c.428G>T (n.428G>T)
c.374G>T (p.Trp125Leu)
 ClinVar dbSNP
7g.120810482C>GCA369137393TSPAN12c.449G>C (p.Trp150Ser)
c.428G>C (n.428G>C)
c.374G>C (p.Trp125Ser)
7g.120810482C>TCA369137394TSPAN12c.449G>A (p.Trp150Ter)
c.428G>A (n.428G>A)
c.374G>A (p.Trp125Ter)
7g.120810483A>CCA369137396TSPAN12c.448T>G (p.Trp150Gly)
c.427T>G (n.427T>G)
c.373T>G (p.Trp125Gly)
7g.120810483A>GCA369137397TSPAN12c.448T>C (p.Trp150Arg)
c.427T>C (n.427T>C)
c.373T>C (p.Trp125Arg)
7g.120810483A>TCA369137395TSPAN12c.448T>A (p.Trp150Arg)
c.427T>A (n.427T>A)
c.373T>A (p.Trp125Arg)
7g.120810484A=CA1738860607TSPAN12c.447T= (p.Ala149=)
c.426T= (n.426T=)
c.372T= (p.Ala124=)
7g.120810484A>CCA457395260TSPAN12c.447T>G (p.Ala149=)
c.426T>G (n.426T>G)
c.372T>G (p.Ala124=)
7g.120810484A>GCA4453890TSPAN12c.447T>C (p.Ala149=)
c.426T>C (n.426T>C)
c.372T>C (p.Ala124=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810484A>TCA457395263TSPAN12c.447T>A (p.Ala149=)
c.426T>A (n.426T>A)
c.372T>A (p.Ala124=)
7g.120810485G>ACA369137399TSPAN12c.446C>T (p.Ala149Val)
c.425C>T (n.425C>T)
c.371C>T (p.Ala124Val)
7g.120810485G>CCA369137402TSPAN12c.446C>G (p.Ala149Gly)
c.425C>G (n.425C>G)
c.371C>G (p.Ala124Gly)
7g.120810485G>TCA369137406TSPAN12c.446C>A (p.Ala149Asp)
c.425C>A (n.425C>A)
c.371C>A (p.Ala124Asp)
7g.120810486C>ACA369137408TSPAN12c.445G>T (p.Ala149Ser)
c.424G>T (n.424G>T)
c.370G>T (p.Ala124Ser)
7g.120810486C>GCA369137409TSPAN12c.445G>C (p.Ala149Pro)
c.424G>C (n.424G>C)
c.370G>C (p.Ala124Pro)
7g.120810486C>TCA369137410TSPAN12c.445G>A (p.Ala149Thr)
c.424G>A (n.424G>A)
c.370G>A (p.Ala124Thr)
7g.120810487A>CCA369137411TSPAN12c.444T>G (p.His148Gln)
c.423T>G (n.423T>G)
c.369T>G (p.His123Gln)
7g.120810487A>GCA457395286TSPAN12c.444T>C (p.His148=)
c.423T>C (n.423T>C)
c.369T>C (p.His123=)
7g.120810487A>TCA369137412TSPAN12c.444T>A (p.His148Gln)
c.423T>A (n.423T>A)
c.369T>A (p.His123Gln)
7g.120810488T>ACA369137413TSPAN12c.443A>T (p.His148Leu)
c.422A>T (n.422A>T)
c.368A>T (p.His123Leu)
 gnomAD v4
7g.120810488T>CCA369137414TSPAN12c.443A>G (p.His148Arg)
c.422A>G (n.422A>G)
c.368A>G (p.His123Arg)
7g.120810488T>GCA369137415TSPAN12c.443A>C (p.His148Pro)
c.422A>C (n.422A>C)
c.368A>C (p.His123Pro)
7g.120810489G>ACA369137416TSPAN12c.442C>T (p.His148Tyr)
c.442C>T
c.421C>T (n.421C>T)
c.367C>T (p.His123Tyr)
7g.120810489G>CCA369137417TSPAN12c.442C>G (p.His148Asp)
c.442C>G
c.421C>G (n.421C>G)
c.367C>G (p.His123Asp)
 COSMIC
7g.120810489G>TCA369137418TSPAN12c.442C>A (p.His148Asn)
c.442C>A
c.421C>A (n.421C>A)
c.367C>A (p.His123Asn)
7g.120810490A=CA1738860610TSPAN12c.441T= (p.Thr147=)
c.420T= (n.420T=)
c.366T= (p.Thr122=)
7g.120810490A>CCA457395295TSPAN12c.441T>G (p.Thr147=)
c.420T>G (n.420T>G)
c.366T>G (p.Thr122=)
7g.120810490A>GCA457395296TSPAN12c.441T>C (p.Thr147=)
c.420T>C (n.420T>C)
c.366T>C (p.Thr122=)
 dbSNP
7g.120810490A>TCA457395298TSPAN12c.441T>A (p.Thr147=)
c.420T>A (n.420T>A)
c.366T>A (p.Thr122=)
7g.120810491G>ACA369137419TSPAN12c.440C>T (p.Thr147Ile)
c.419C>T (n.419C>T)
c.365C>T (p.Thr122Ile)
7g.120810491G>CCA369137420TSPAN12c.440C>G (p.Thr147Ser)
c.419C>G (n.419C>G)
c.365C>G (p.Thr122Ser)
7g.120810491G=CA1738860620TSPAN12c.440C= (p.Thr147=)
c.419C= (n.419C=)
c.365C= (p.Thr122=)
7g.120810491G>TCA4453891TSPAN12c.440C>A (p.Thr147Asn)
c.419C>A (n.419C>A)
c.365C>A (p.Thr122Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810492T>ACA369137421TSPAN12c.439A>T (p.Thr147Ser)
c.418A>T (n.418A>T)
c.364A>T (p.Thr122Ser)
7g.120810492T>CCA369137422TSPAN12c.439A>G (p.Thr147Ala)
c.418A>G (n.418A>G)
c.364A>G (p.Thr122Ala)
7g.120810492T>GCA369137423TSPAN12c.439A>C (p.Thr147Pro)
c.418A>C (n.418A>C)
c.364A>C (p.Thr122Pro)
7g.120810493A>CCA457395304TSPAN12c.438T>G (p.Leu146=)
c.417T>G (n.417T>G)
c.363T>G (p.Leu121=)
7g.120810493A>GCA457395306TSPAN12c.438T>C (p.Leu146=)
c.417T>C (n.417T>C)
c.363T>C (p.Leu121=)
7g.120810493A>TCA457395307TSPAN12c.438T>A (p.Leu146=)
c.417T>A (n.417T>A)
c.363T>A (p.Leu121=)
7g.120810494dupCA2695208397TSPAN12c.438dup (p.Thr147TyrfsTer12)
c.438dup (p.Thr147TyrfsTer?)
c.417dup (n.417dup)
c.363dup (p.Thr122TyrfsTer12)
7g.120810494A=CA1738860623TSPAN12c.437T= (p.Leu146=)
c.416T= (n.416T=)
c.362T= (p.Leu121=)
7g.120810494A>CCA369137424TSPAN12c.437T>G (p.Leu146Arg)
c.416T>G (n.416T>G)
c.362T>G (p.Leu121Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.120810494A>GCA369137425TSPAN12c.437T>C (p.Leu146Pro)
c.416T>C (n.416T>C)
c.362T>C (p.Leu121Pro)
7g.120810494A>TCA369137426TSPAN12c.437T>A (p.Leu146His)
c.416T>A (n.416T>A)
c.362T>A (p.Leu121His)
7g.120810495G>ACA369137427TSPAN12c.436C>T (p.Leu146Phe)
c.415C>T (n.415C>T)
c.361C>T (p.Leu121Phe)
7g.120810495G>CCA369137428TSPAN12c.436C>G (p.Leu146Val)
c.415C>G (n.415C>G)
c.361C>G (p.Leu121Val)
7g.120810495G>TCA369137429TSPAN12c.436C>A (p.Leu146Ile)
c.415C>A (n.415C>A)
c.361C>A (p.Leu121Ile)
7g.120810496C>ACA369137430TSPAN12c.435G>T (p.Trp145Cys)
c.414G>T (n.414G>T)
c.360G>T (p.Trp120Cys)
 gnomAD v4
7g.120810496C>GCA369137431TSPAN12c.435G>C (p.Trp145Cys)
c.414G>C (n.414G>C)
c.360G>C (p.Trp120Cys)
7g.120810496C>TCA369137432TSPAN12c.435G>A (p.Trp145Ter)
c.414G>A (n.414G>A)
c.360G>A (p.Trp120Ter)
7g.120810497C>ACA369137433TSPAN12c.434G>T (p.Trp145Leu)
c.413G>T (n.413G>T)
c.359G>T (p.Trp120Leu)
7g.120810497C>GCA369137435TSPAN12c.434G>C (p.Trp145Ser)
c.413G>C (n.413G>C)
c.359G>C (p.Trp120Ser)
 gnomAD v4
7g.120810497C>TCA369137434TSPAN12c.434G>A (p.Trp145Ter)
c.413G>A (n.413G>A)
c.359G>A (p.Trp120Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.120810498A>CCA369137436TSPAN12c.433T>G (p.Trp145Gly)
c.412T>G (n.412T>G)
c.358T>G (p.Trp120Gly)
7g.120810498A>GCA369137437TSPAN12c.433T>C (p.Trp145Arg)
c.412T>C (n.412T>C)
c.358T>C (p.Trp120Arg)
7g.120810498A>TCA369137438TSPAN12c.433T>A (p.Trp145Arg)
c.412T>A (n.412T>A)
c.358T>A (p.Trp120Arg)
7g.120810499C>ACA457395327TSPAN12c.432G>T (p.Arg144=)
c.411G>T (n.411G>T)
c.357G>T (p.Arg119=)
7g.120810499C=CA1738860625TSPAN12c.432G= (p.Arg144=)
c.411G= (n.411G=)
c.357G= (p.Arg119=)
7g.120810499C>GCA457395330TSPAN12c.432G>C (p.Arg144=)
c.411G>C (n.411G>C)
c.357G>C (p.Arg119=)
7g.120810499C>TCA165837049TSPAN12c.432G>A (p.Arg144=)
c.411G>A (n.411G>A)
c.357G>A (p.Arg119=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810500C>ACA369137439TSPAN12c.431G>T (p.Arg144Leu)
c.410G>T (n.410G>T)
c.356G>T (p.Arg119Leu)
7g.120810500C=CA1738860631TSPAN12c.431G= (p.Arg144=)
c.410G= (n.410G=)
c.356G= (p.Arg119=)
7g.120810500C>GCA4453893TSPAN12c.431G>C (p.Arg144Pro)
c.410G>C (n.410G>C)
c.356G>C (p.Arg119Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810500C>TCA4453892TSPAN12c.431G>A (p.Arg144Gln)
c.410G>A (n.410G>A)
c.356G>A (p.Arg119Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810501G>ACA4453894TSPAN12c.430C>T (p.Arg144Trp)
c.409C>T (n.409C>T)
c.355C>T (p.Arg119Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810501G>CCA369137440TSPAN12c.430C>G (p.Arg144Gly)
c.409C>G (n.409C>G)
c.355C>G (p.Arg119Gly)
7g.120810501G=CA1738860637TSPAN12c.430C= (p.Arg144=)
c.409C= (n.409C=)
c.355C= (p.Arg119=)
7g.120810501G>TCA457395346TSPAN12c.430C>A (p.Arg144=)
c.409C>A (n.409C>A)
c.355C>A (p.Arg119=)
 gnomAD v4
7g.120810502A=CA1738860640TSPAN12c.429T= (p.Tyr143=)
c.408T= (n.408T=)
c.354T= (p.Tyr118=)
7g.120810502A>CCA369137441TSPAN12c.429T>G (p.Tyr143Ter)
c.408T>G (n.408T>G)
c.354T>G (p.Tyr118Ter)
7g.120810502A>GCA165837050TSPAN12c.429T>C (p.Tyr143=)
c.408T>C (n.408T>C)
c.354T>C (p.Tyr118=)
 dbSNP gnomAD v4
7g.120810502A>TCA369137442TSPAN12c.429T>A (p.Tyr143Ter)
c.408T>A (n.408T>A)
c.354T>A (p.Tyr118Ter)
7g.120810503T>ACA369137445TSPAN12c.428A>T (p.Tyr143Phe)
c.407A>T (n.407A>T)
c.353A>T (p.Tyr118Phe)
7g.120810503T>CCA369137444TSPAN12c.428A>G (p.Tyr143Cys)
c.407A>G (n.407A>G)
c.353A>G (p.Tyr118Cys)
7g.120810503T>GCA369137443TSPAN12c.428A>C (p.Tyr143Ser)
c.407A>C (n.407A>C)
c.353A>C (p.Tyr118Ser)
7g.120810504A>CCA369137446TSPAN12c.427T>G (p.Tyr143Asp)
c.406T>G (n.406T>G)
c.352T>G (p.Tyr118Asp)
7g.120810504A>GCA369137447TSPAN12c.427T>C (p.Tyr143His)
c.406T>C (n.406T>C)
c.352T>C (p.Tyr118His)
 gnomAD v4
7g.120810504A>TCA369137448TSPAN12c.427T>A (p.Tyr143Asn)
c.406T>A (n.406T>A)
c.352T>A (p.Tyr118Asn)
7g.120810505T>ACA369137449TSPAN12c.426A>T (p.Arg142Ser)
c.405A>T (n.405A>T)
c.351A>T (p.Arg117Ser)
7g.120810505T>CCA165837051TSPAN12c.426A>G (p.Arg142=)
c.405A>G (n.405A>G)
c.351A>G (p.Arg117=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.120810505T>GCA369137450TSPAN12c.426A>C (p.Arg142Ser)
c.405A>C (n.405A>C)
c.351A>C (p.Arg117Ser)
7g.120810505T=CA1738860645TSPAN12c.426A= (p.Arg142=)
c.405A= (n.405A=)
c.351A= (p.Arg117=)
7g.120810506C>ACA369137451TSPAN12c.425G>T (p.Arg142Ile)
c.404G>T (n.404G>T)
c.350G>T (p.Arg117Ile)
7g.120810506C=CA1738860648TSPAN12c.425G= (p.Arg142=)
c.404G= (n.404G=)
c.350G= (p.Arg117=)
7g.120810506C>GCA369137452TSPAN12c.425G>C (p.Arg142Thr)
c.404G>C (n.404G>C)
c.350G>C (p.Arg117Thr)
7g.120810506C>TCA4453895TSPAN12c.425G>A (p.Arg142Lys)
c.404G>A (n.404G>A)
c.350G>A (p.Arg117Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810507T>ACA369137453TSPAN12c.424A>T (p.Arg142Ter)
c.403A>T (n.403A>T)
c.349A>T (p.Arg117Ter)
7g.120810507T>CCA4453896TSPAN12c.424A>G (p.Arg142Gly)
c.403A>G (n.403A>G)
c.349A>G (p.Arg117Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.120810507T>GCA457395367TSPAN12c.424A>C (p.Arg142=)
c.403A>C (n.403A>C)
c.349A>C (p.Arg117=)
7g.120810507T=CA1738860652TSPAN12c.424A= (p.Arg142=)
c.403A= (n.403A=)
c.349A= (p.Arg117=)
7g.120810508A>CCA457395371TSPAN12c.423T>G (p.Pro141=)
c.402T>G (n.402T>G)
c.348T>G (p.Pro116=)
7g.120810508A>GCA457395376TSPAN12c.423T>C (p.Pro141=)
c.402T>C (n.402T>C)
c.348T>C (p.Pro116=)
7g.120810508A>TCA457395373TSPAN12c.423T>A (p.Pro141=)
c.402T>A (n.402T>A)
c.348T>A (p.Pro116=)
7g.120810509G>ACA369137454TSPAN12c.422C>T (p.Pro141Leu)
c.401C>T (n.401C>T)
c.347C>T (p.Pro116Leu)
7g.120810509G>CCA369137455TSPAN12c.422C>G (p.Pro141Arg)
c.401C>G (n.401C>G)
c.347C>G (p.Pro116Arg)
7g.120810509G>TCA369137456TSPAN12c.422C>A (p.Pro141His)
c.401C>A (n.401C>A)
c.347C>A (p.Pro116His)
7g.120810510G>ACA4453897TSPAN12c.421C>T (p.Pro141Ser)
c.400C>T (n.400C>T)
c.346C>T (p.Pro116Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.120810510G>CCA369137458TSPAN12c.421C>G (p.Pro141Ala)
c.400C>G (n.400C>G)
c.346C>G (p.Pro116Ala)
7g.120810510G=CA1738860658TSPAN12c.421C= (p.Pro141=)
c.400C= (n.400C=)
c.346C= (p.Pro116=)
7g.120810510G>TCA369137457TSPAN12c.421C>A (p.Pro141Thr)
c.400C>A (n.400C>A)
c.346C>A (p.Pro116Thr)
7g.120810511T>ACA369137460TSPAN12c.420A>T (p.Leu140Phe)
c.399A>T (n.399A>T)
c.345A>T (p.Leu115Phe)
7g.120810511T>CCA457395388TSPAN12c.420A>G (p.Leu140=)
c.399A>G (n.399A>G)
c.345A>G (p.Leu115=)
7g.120810511T>GCA369137459TSPAN12c.420A>C (p.Leu140Phe)
c.399A>C (n.399A>C)
c.345A>C (p.Leu115Phe)
7g.120810512A=CA1738860662TSPAN12c.419T= (p.Leu140=)
c.398T= (n.398T=)
c.344T= (p.Leu115=)
7g.120810512A>CCA369137461TSPAN12c.419T>G (p.Leu140Ter)
c.398T>G (n.398T>G)
c.344T>G (p.Leu115Ter)
7g.120810512A>GCA369137462TSPAN12c.419T>C (p.Leu140Ser)
c.398T>C (n.398T>C)
c.344T>C (p.Leu115Ser)
7g.120810512A>TCA251423TSPAN12c.419T>A (p.Leu140Ter)
c.398T>A (n.398T>A)
c.344T>A (p.Leu115Ter)
 ClinVar dbSNP gnomAD v4
7g.120810513A>CCA369137463TSPAN12c.418T>G (p.Leu140Val)
c.397T>G (n.397T>G)
c.343T>G (p.Leu115Val)
7g.120810513A>GCA457395404TSPAN12c.418T>C (p.Leu140=)
c.397T>C (n.397T>C)
c.343T>C (p.Leu115=)
7g.120810513A>TCA369137464TSPAN12c.418T>A (p.Leu140Ile)
c.397T>A (n.397T>A)
c.343T>A (p.Leu115Ile)
7g.120810514T>ACA457395407TSPAN12c.417A>T (p.Gly139=)
c.396A>T (n.396A>T)
c.342A>T (p.Gly114=)
 gnomAD v4
7g.120810514T>CCA457395409TSPAN12c.417A>G (p.Gly139=)
c.396A>G (n.396A>G)
c.342A>G (p.Gly114=)
7g.120810514T>GCA457395412TSPAN12c.417A>C (p.Gly139=)
c.396A>C (n.396A>C)
c.342A>C (p.Gly114=)
7g.120810515C>ACA369137465TSPAN12c.416G>T (p.Gly139Val)
c.395G>T (n.395G>T)
c.341G>T (p.Gly114Val)
 gnomAD v4
7g.120810515C>GCA369137466TSPAN12c.416G>C (p.Gly139Ala)
c.395G>C (n.395G>C)
c.341G>C (p.Gly114Ala)
7g.120810515C>TCA369137467TSPAN12c.416G>A (p.Gly139Glu)
c.395G>A (n.395G>A)
c.341G>A (p.Gly114Glu)
7g.120810516C>ACA369137468TSPAN12c.415G>T (p.Gly139Ter)
c.394G>T (n.394G>T)
c.340G>T (p.Gly114Ter)
7g.120810516C>GCA369137469TSPAN12c.415G>C (p.Gly139Arg)
c.394G>C (n.394G>C)
c.340G>C (p.Gly114Arg)
7g.120810516C>TCA369137470TSPAN12c.415G>A (p.Gly139Arg)
c.394G>A (n.394G>A)
c.340G>A (p.Gly114Arg)
7g.120810517A>CCA369137471TSPAN12c.414T>G (p.Tyr138Ter)
c.393T>G (n.393T>G)
c.339T>G (p.Tyr113Ter)
7g.120810517A>GCA457395427TSPAN12c.414T>C (p.Tyr138=)
c.393T>C (n.393T>C)
c.339T>C (p.Tyr113=)
7g.120810517A>TCA369137472TSPAN12c.414T>A (p.Tyr138Ter)
c.393T>A (n.393T>A)
c.339T>A (p.Tyr113Ter)
7g.120810518T>ACA369137474TSPAN12c.413A>T (p.Tyr138Phe)
c.392A>T (n.392A>T)
c.338A>T (p.Tyr113Phe)
7g.120810518T>CCA269452TSPAN12c.413A>G (p.Tyr138Cys)
c.392A>G (n.392A>G)
c.338A>G (p.Tyr113Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120810518T>GCA369137473TSPAN12c.413A>C (p.Tyr138Ser)
c.392A>C (n.392A>C)
c.338A>C (p.Tyr113Ser)
7g.120810518T=CA1738860670TSPAN12c.413A= (p.Tyr138=)
c.392A= (n.392A=)
c.338A= (p.Tyr113=)
7g.120810519A>CCA369137475TSPAN12c.412T>G (p.Tyr138Asp)
c.391T>G (n.391T>G)
c.337T>G (p.Tyr113Asp)
7g.120810519A>GCA369137476TSPAN12c.412T>C (p.Tyr138His)
c.391T>C (n.391T>C)
c.337T>C (p.Tyr113His)
7g.120810519A>TCA369137477TSPAN12c.412T>A (p.Tyr138Asn)
c.391T>A (n.391T>A)
c.337T>A (p.Tyr113Asn)
7g.120810520A>CCA369137478TSPAN12c.411T>G (p.Asn137Lys)
c.390T>G (n.390T>G)
c.336T>G (p.Asn112Lys)
7g.120810520A>GCA457395443TSPAN12c.411T>C (p.Asn137=)
c.390T>C (n.390T>C)
c.336T>C (p.Asn112=)
 gnomAD v4
7g.120810520A>TCA369137479TSPAN12c.411T>A (p.Asn137Lys)
c.390T>A (n.390T>A)
c.336T>A (p.Asn112Lys)
7g.120810521T>ACA369137480TSPAN12c.410A>T (p.Asn137Ile)
c.389A>T (n.389A>T)
c.335A>T (p.Asn112Ile)
7g.120810521T>CCA369137481TSPAN12c.410A>G (p.Asn137Ser)
c.389A>G (n.389A>G)
c.335A>G (p.Asn112Ser)
7g.120810521T>GCA369137482TSPAN12c.410A>C (p.Asn137Thr)
c.389A>C (n.389A>C)
c.335A>C (p.Asn112Thr)
7g.120810522T>ACA369137483TSPAN12c.409A>T (p.Asn137Tyr)
c.388A>T (n.388A>T)
c.334A>T (p.Asn112Tyr)
7g.120810522T>CCA165837052TSPAN12c.409A>G (p.Asn137Asp)
c.388A>G (n.388A>G)
c.334A>G (p.Asn112Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.120810522T>GCA369137484TSPAN12c.409A>C (p.Asn137His)
c.388A>C (n.388A>C)
c.334A>C (p.Asn112His)
7g.120810522T=CA1738860680TSPAN12c.409A= (p.Asn137=)
c.388A= (n.388A=)
c.334A= (p.Asn112=)
7g.120810523T>ACA457395458TSPAN12c.408A>T (p.Thr136=)
c.387A>T (n.387A>T)
c.333A>T (p.Thr111=)
7g.120810523T>CCA457395460TSPAN12c.408A>G (p.Thr136=)
c.387A>G (n.387A>G)
c.333A>G (p.Thr111=)
7g.120810523T>GCA457395475TSPAN12c.408A>C (p.Thr136=)
c.387A>C (n.387A>C)
c.333A>C (p.Thr111=)
7g.120810524G>ACA369137485TSPAN12c.407C>T (p.Thr136Ile)
c.386C>T (n.386C>T)
c.332C>T (p.Thr111Ile)
 dbSNP
7g.120810524G>CCA369137486TSPAN12c.407C>G (p.Thr136Arg)
c.386C>G (n.386C>G)
c.332C>G (p.Thr111Arg)
7g.120810524G=CA1738860686TSPAN12c.407C= (p.Thr136=)
c.386C= (n.386C=)
c.332C= (p.Thr111=)
7g.120810524G>TCA369137487TSPAN12c.407C>A (p.Thr136Lys)
c.386C>A (n.386C>A)
c.332C>A (p.Thr111Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.120810525T>ACA369137489TSPAN12c.406A>T (p.Thr136Ser)
c.385A>T (n.385A>T)
c.331A>T (p.Thr111Ser)
7g.120810525T>CCA369137490TSPAN12c.406A>G (p.Thr136Ala)
c.385A>G (n.385A>G)
c.331A>G (p.Thr111Ala)
7g.120810525T>GCA369137488TSPAN12c.406A>C (p.Thr136Pro)
c.385A>C (n.385A>C)
c.331A>C (p.Thr111Pro)

Number of alleles fetched