Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74417875A>CCA393147801SEMA7Ac.465+2T>G (n.465+2T>G)
c.-31+2T>G (n.-31+2T>G)
c.423+2T>G (n.423+2T>G)
15g.74417875A>GCA393147803SEMA7Ac.465+2T>C (n.465+2T>C)
c.-31+2T>C (n.-31+2T>C)
c.423+2T>C (n.423+2T>C)
15g.74417875A>TCA393147805SEMA7Ac.465+2T>A (n.465+2T>A)
c.-31+2T>A (n.-31+2T>A)
c.423+2T>A (n.423+2T>A)
15g.74417876C>ACA393147809SEMA7Ac.465+1G>T (n.465+1G>T)
c.-31+1G>T (n.-31+1G>T)
c.423+1G>T (n.423+1G>T)
15g.74417876C>GCA393147811SEMA7Ac.465+1G>C (n.465+1G>C)
c.-31+1G>C (n.-31+1G>C)
c.423+1G>C (n.423+1G>C)
15g.74417876C>TCA393147807SEMA7Ac.465+1G>A (n.465+1G>A)
c.-31+1G>A (n.-31+1G>A)
c.423+1G>A (n.423+1G>A)
15g.74417877C>ACA491212785SEMA7Ac.465G>T (p.Leu155=)
c.-31G>T (n.-31G>T)
c.423G>T (p.Leu141=)
15g.74417877C=CA2187679127SEMA7Ac.465G= (p.Leu155=)
c.-31G= (n.-31G=)
c.423G= (p.Leu141=)
15g.74417877C>GCA491212784SEMA7Ac.465G>C (p.Leu155=)
c.-31G>C (n.-31G>C)
c.423G>C (p.Leu141=)
15g.74417877C>TCA7657255SEMA7Ac.465G>A (p.Leu155=)
c.-31G>A (n.-31G>A)
c.423G>A (p.Leu141=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74417878A>CCA393147814SEMA7Ac.464T>G (p.Leu155Arg)
c.-32T>G (n.-32T>G)
c.422T>G (p.Leu141Arg)
15g.74417878A>GCA393147816SEMA7Ac.464T>C (p.Leu155Pro)
c.-32T>C (n.-32T>C)
c.422T>C (p.Leu141Pro)
15g.74417878A>TCA393147817SEMA7Ac.464T>A (p.Leu155Gln)
c.-32T>A (n.-32T>A)
c.422T>A (p.Leu141Gln)
15g.74417879G>ACA272789792SEMA7Ac.463C>T (p.Leu155=)
c.-33C>T (n.-33C>T)
c.421C>T (p.Leu141=)
dbSNP
15g.74417879G>CCA393147819SEMA7Ac.463C>G (p.Leu155Val)
c.-33C>G (n.-33C>G)
c.421C>G (p.Leu141Val)
15g.74417879G=CA2187679130SEMA7Ac.463C= (p.Leu155=)
c.-33C= (n.-33C=)
c.421C= (p.Leu141=)
15g.74417879G>TCA393147821SEMA7Ac.463C>A (p.Leu155Met)
c.-33C>A (n.-33C>A)
c.421C>A (p.Leu141Met)
15g.74417880G>ACA491212786SEMA7Ac.462C>T (p.Asn154=)
c.-34C>T (n.-34C>T)
c.420C>T (p.Asn140=)
15g.74417880G>CCA393147826SEMA7Ac.462C>G (p.Asn154Lys)
c.-34C>G (n.-34C>G)
c.420C>G (p.Asn140Lys)
15g.74417880G>TCA393147823SEMA7Ac.462C>A (p.Asn154Lys)
c.-34C>A (n.-34C>A)
c.420C>A (p.Asn140Lys)
15g.74417881T>ACA393147829SEMA7Ac.461A>T (p.Asn154Ile)
c.-35A>T (n.-35A>T)
c.419A>T (p.Asn140Ile)
15g.74417881T>CCA393147831SEMA7Ac.461A>G (p.Asn154Ser)
c.-35A>G (n.-35A>G)
c.419A>G (p.Asn140Ser)
15g.74417881T>GCA393147833SEMA7Ac.461A>C (p.Asn154Thr)
c.-35A>C (n.-35A>C)
c.419A>C (p.Asn140Thr)
15g.74417882T>ACA393147835SEMA7Ac.460A>T (p.Asn154Tyr)
c.-36A>T (n.-36A>T)
c.418A>T (p.Asn140Tyr)
15g.74417882T>CCA393147836SEMA7Ac.460A>G (p.Asn154Asp)
c.-36A>G (n.-36A>G)
c.418A>G (p.Asn140Asp)
dbSNP gnomAD v4
15g.74417882T>GCA393147838SEMA7Ac.460A>C (p.Asn154His)
c.-36A>C (n.-36A>C)
c.418A>C (p.Asn140His)
15g.74417882T=CA2187679133SEMA7Ac.460A= (p.Asn154=)
c.-36A= (n.-36A=)
c.418A= (p.Asn140=)
15g.74417883C>ACA393147840SEMA7Ac.459G>T (p.Trp153Cys)
c.-37G>T (n.-37G>T)
c.417G>T (p.Trp139Cys)
15g.74417883C>GCA393147843SEMA7Ac.459G>C (p.Trp153Cys)
c.-37G>C (n.-37G>C)
c.417G>C (p.Trp139Cys)
15g.74417883C>TCA393147841SEMA7Ac.459G>A (p.Trp153Ter)
c.-37G>A (n.-37G>A)
c.417G>A (p.Trp139Ter)
15g.74417884C>ACA393147845SEMA7Ac.458G>T (p.Trp153Leu)
c.-38G>T (n.-38G>T)
c.416G>T (p.Trp139Leu)
15g.74417884C>GCA393147847SEMA7Ac.458G>C (p.Trp153Ser)
c.-38G>C (n.-38G>C)
c.416G>C (p.Trp139Ser)
15g.74417884C>TCA393147849SEMA7Ac.458G>A (p.Trp153Ter)
c.-38G>A (n.-38G>A)
c.416G>A (p.Trp139Ter)
15g.74417885A>CCA393147852SEMA7Ac.457T>G (p.Trp153Gly)
c.-39T>G (n.-39T>G)
c.415T>G (p.Trp139Gly)
15g.74417885A>GCA393147853SEMA7Ac.457T>C (p.Trp153Arg)
c.-39T>C (n.-39T>C)
c.415T>C (p.Trp139Arg)
15g.74417885A>TCA393147855SEMA7Ac.457T>A (p.Trp153Arg)
c.-39T>A (n.-39T>A)
c.415T>A (p.Trp139Arg)
15g.74417886G>ACA491212787SEMA7Ac.456C>T (p.Cys152=)
c.-40C>T (n.-40C>T)
c.414C>T (p.Cys138=)
gnomAD v4
15g.74417886G>CCA393147857SEMA7Ac.456C>G (p.Cys152Trp)
c.-40C>G (n.-40C>G)
c.414C>G (p.Cys138Trp)
15g.74417886G>TCA393147859SEMA7Ac.456C>A (p.Cys152Ter)
c.-40C>A (n.-40C>A)
c.414C>A (p.Cys138Ter)
15g.74417887C>ACA393147861SEMA7Ac.455G>T (p.Cys152Phe)
c.-41G>T (n.-41G>T)
c.413G>T (p.Cys138Phe)
15g.74417887C>GCA393147863SEMA7Ac.455G>C (p.Cys152Ser)
c.-41G>C (n.-41G>C)
c.413G>C (p.Cys138Ser)
15g.74417887C>TCA393147865SEMA7Ac.455G>A (p.Cys152Tyr)
c.-41G>A (n.-41G>A)
c.413G>A (p.Cys138Tyr)
15g.74417888A>CCA393147870SEMA7Ac.454T>G (p.Cys152Gly)
c.-42T>G (n.-42T>G)
c.412T>G (p.Cys138Gly)
15g.74417888A>GCA393147869SEMA7Ac.454T>C (p.Cys152Arg)
c.-42T>C (n.-42T>C)
c.412T>C (p.Cys138Arg)
15g.74417888A>TCA393147868SEMA7Ac.454T>A (p.Cys152Ser)
c.-42T>A (n.-42T>A)
c.412T>A (p.Cys138Ser)
15g.74417889G>ACA491212788SEMA7Ac.453C>T (p.Ser151=)
c.-43C>T (n.-43C>T)
c.411C>T (p.Ser137=)
15g.74417889G>CCA393147873SEMA7Ac.453C>G (p.Ser151Arg)
c.-43C>G (n.-43C>G)
c.411C>G (p.Ser137Arg)
15g.74417889G>TCA393147875SEMA7Ac.453C>A (p.Ser151Arg)
c.-43C>A (n.-43C>A)
c.411C>A (p.Ser137Arg)
15g.74417890C>ACA393147877SEMA7Ac.452G>T (p.Ser151Ile)
c.-44G>T (n.-44G>T)
c.410G>T (p.Ser137Ile)
15g.74417890C>GCA393147881SEMA7Ac.452G>C (p.Ser151Thr)
c.-44G>C (n.-44G>C)
c.410G>C (p.Ser137Thr)
15g.74417890C>TCA393147879SEMA7Ac.452G>A (p.Ser151Asn)
c.-44G>A (n.-44G>A)
c.410G>A (p.Ser137Asn)
gnomAD v4
15g.74417891T>ACA393147883SEMA7Ac.451A>T (p.Ser151Cys)
c.-45A>T (n.-45A>T)
c.409A>T (p.Ser137Cys)
15g.74417891T>CCA393147885SEMA7Ac.451A>G (p.Ser151Gly)
c.-45A>G (n.-45A>G)
c.409A>G (p.Ser137Gly)
15g.74417891T>GCA393147887SEMA7Ac.451A>C (p.Ser151Arg)
c.-45A>C (n.-45A>C)
c.409A>C (p.Ser137Arg)
15g.74417892G>ACA491212790SEMA7Ac.450C>T (p.Pro150=)
c.-46C>T (n.-46C>T)
c.408C>T (p.Pro136=)
15g.74417892G>CCA491212792SEMA7Ac.450C>G (p.Pro150=)
c.-46C>G (n.-46C>G)
c.408C>G (p.Pro136=)
15g.74417892G>TCA491212793SEMA7Ac.450C>A (p.Pro150=)
c.-46C>A (n.-46C>A)
c.408C>A (p.Pro136=)
15g.74417895delCA2838451370SEMA7Ac.450del (p.Ser151AlafsTer6)
c.-46del (n.-46del)
c.408del (p.Ser137AlafsTer6)
15g.74417893G>ACA393147889SEMA7Ac.449C>T (p.Pro150Leu)
c.-47C>T (n.-47C>T)
c.407C>T (p.Pro136Leu)
15g.74417893G>CCA393147891SEMA7Ac.449C>G (p.Pro150Arg)
c.-47C>G (n.-47C>G)
c.407C>G (p.Pro136Arg)
15g.74417893G>TCA393147893SEMA7Ac.449C>A (p.Pro150His)
c.-47C>A (n.-47C>A)
c.407C>A (p.Pro136His)
15g.74417894G>ACA393147899SEMA7Ac.448C>T (p.Pro150Ser)
c.-48C>T (n.-48C>T)
c.406C>T (p.Pro136Ser)
gnomAD v4
15g.74417894G>CCA393147895SEMA7Ac.448C>G (p.Pro150Ala)
c.-48C>G (n.-48C>G)
c.406C>G (p.Pro136Ala)
15g.74417894G>TCA393147898SEMA7Ac.448C>A (p.Pro150Thr)
c.-48C>A (n.-48C>A)
c.406C>A (p.Pro136Thr)
15g.74417895G>ACA491212794SEMA7Ac.447C>T (p.His149=)
c.-49C>T (n.-49C>T)
c.405C>T (p.His135=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74417895G>CCA393147900SEMA7Ac.447C>G (p.His149Gln)
c.-49C>G (n.-49C>G)
c.405C>G (p.His135Gln)
15g.74417895G=CA2187679138SEMA7Ac.447C= (p.His149=)
c.-49C= (n.-49C=)
c.405C= (p.His135=)
15g.74417895G>TCA393147902SEMA7Ac.447C>A (p.His149Gln)
c.-49C>A (n.-49C>A)
c.405C>A (p.His135Gln)
15g.74417896T>ACA393147904SEMA7Ac.446A>T (p.His149Leu)
c.-50A>T (n.-50A>T)
c.404A>T (p.His135Leu)
15g.74417896T>CCA393147906SEMA7Ac.446A>G (p.His149Arg)
c.-50A>G (n.-50A>G)
c.404A>G (p.His135Arg)
15g.74417896T>GCA393147908SEMA7Ac.446A>C (p.His149Pro)
c.-50A>C (n.-50A>C)
c.404A>C (p.His135Pro)
15g.74417897G>ACA393147914SEMA7Ac.445C>T (p.His149Tyr)
c.-51C>T (n.-51C>T)
c.403C>T (p.His135Tyr)
gnomAD v4
15g.74417897G>CCA393147910SEMA7Ac.445C>G (p.His149Asp)
c.-51C>G (n.-51C>G)
c.403C>G (p.His135Asp)
15g.74417897G>TCA393147912SEMA7Ac.445C>A (p.His149Asn)
c.-51C>A (n.-51C>A)
c.403C>A (p.His135Asn)
15g.74417898C>ACA491212797SEMA7Ac.444G>T (p.Arg148=)
c.-52G>T (n.-52G>T)
c.402G>T (p.Arg134=)
15g.74417898C>GCA491212796SEMA7Ac.444G>C (p.Arg148=)
c.-52G>C (n.-52G>C)
c.402G>C (p.Arg134=)
15g.74417898C>TCA491212795SEMA7Ac.444G>A (p.Arg148=)
c.-52G>A (n.-52G>A)
c.402G>A (p.Arg134=)
15g.74417899C>ACA393147917SEMA7Ac.443G>T (p.Arg148Leu)
c.-53G>T (n.-53G>T)
c.401G>T (p.Arg134Leu)
15g.74417899C=CA2187679143SEMA7Ac.443G= (p.Arg148=)
c.-53G= (n.-53G=)
c.401G= (p.Arg134=)
15g.74417899C>GCA393147919SEMA7Ac.443G>C (p.Arg148Pro)
c.-53G>C (n.-53G>C)
c.401G>C (p.Arg134Pro)
15g.74417899C>TCA7657256SEMA7Ac.443G>A (p.Arg148Gln)
c.-53G>A (n.-53G>A)
c.401G>A (p.Arg134Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417900G>ACA7657257SEMA7Ac.442C>T (p.Arg148Trp)
c.-54C>T (n.-54C>T)
c.400C>T (p.Arg134Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417900G>CCA393147922SEMA7Ac.442C>G (p.Arg148Gly)
c.-54C>G (n.-54C>G)
c.400C>G (p.Arg134Gly)
dbSNP gnomAD v2 gnomAD v4
15g.74417900G=CA2187679149SEMA7Ac.442C= (p.Arg148=)
c.-54C= (n.-54C=)
c.400C= (p.Arg134=)
15g.74417900G>TCA491212798SEMA7Ac.442C>A (p.Arg148=)
c.-54C>A (n.-54C>A)
c.400C>A (p.Arg134=)
15g.74417901G>ACA272789796SEMA7Ac.441C>T (p.Ala147=)
c.-55C>T (n.-55C>T)
c.399C>T (p.Ala133=)
dbSNP
15g.74417901G>CCA491212799SEMA7Ac.441C>G (p.Ala147=)
c.-55C>G (n.-55C>G)
c.399C>G (p.Ala133=)
15g.74417901G=CA2187679155SEMA7Ac.441C= (p.Ala147=)
c.-55C= (n.-55C=)
c.399C= (p.Ala133=)
15g.74417901G>TCA491212800SEMA7Ac.441C>A (p.Ala147=)
c.-55C>A (n.-55C>A)
c.399C>A (p.Ala133=)
15g.74417902G>ACA393147924SEMA7Ac.440C>T (p.Ala147Val)
c.-56C>T (n.-56C>T)
c.398C>T (p.Ala133Val)
15g.74417902G>CCA393147925SEMA7Ac.440C>G (p.Ala147Gly)
c.-56C>G (n.-56C>G)
c.398C>G (p.Ala133Gly)
15g.74417902G>TCA393147927SEMA7Ac.440C>A (p.Ala147Asp)
c.-56C>A (n.-56C>A)
c.398C>A (p.Ala133Asp)
15g.74417903C>ACA393147929SEMA7Ac.439G>T (p.Ala147Ser)
c.-57G>T (n.-57G>T)
c.397G>T (p.Ala133Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74417903C=CA2187679158SEMA7Ac.439G= (p.Ala147=)
c.-57G= (n.-57G=)
c.397G= (p.Ala133=)
15g.74417903C>GCA393147931SEMA7Ac.439G>C (p.Ala147Pro)
c.-57G>C (n.-57G>C)
c.397G>C (p.Ala133Pro)
15g.74417903C>TCA272789800SEMA7Ac.439G>A (p.Ala147Thr)
c.-57G>A (n.-57G>A)
c.397G>A (p.Ala133Thr)
dbSNP gnomAD v2 gnomAD v4
15g.74417904G>ACA7657258SEMA7Ac.438C>T (p.Asn146=)
c.-58C>T (n.-58C>T)
c.396C>T (p.Asn132=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417904G>CCA393147937SEMA7Ac.438C>G (p.Asn146Lys)
c.-58C>G (n.-58C>G)
c.396C>G (p.Asn132Lys)
gnomAD v4
15g.74417904G=CA2187679161SEMA7Ac.438C= (p.Asn146=)
c.-58C= (n.-58C=)
c.396C= (p.Asn132=)
15g.74417904G>TCA393147936SEMA7Ac.438C>A (p.Asn146Lys)
c.-58C>A (n.-58C>A)
c.396C>A (p.Asn132Lys)
15g.74417905T>ACA393147940SEMA7Ac.437A>T (p.Asn146Ile)
c.-59A>T (n.-59A>T)
c.395A>T (p.Asn132Ile)
15g.74417905T>CCA393147941SEMA7Ac.437A>G (p.Asn146Ser)
c.-59A>G (n.-59A>G)
c.395A>G (p.Asn132Ser)
15g.74417905T>GCA393147943SEMA7Ac.437A>C (p.Asn146Thr)
c.-59A>C (n.-59A>C)
c.395A>C (p.Asn132Thr)
15g.74417906T>ACA393147945SEMA7Ac.436A>T (p.Asn146Tyr)
c.-60A>T (n.-60A>T)
c.394A>T (p.Asn132Tyr)
15g.74417906T>CCA393147947SEMA7Ac.436A>G (p.Asn146Asp)
c.-60A>G (n.-60A>G)
c.394A>G (p.Asn132Asp)
15g.74417906T>GCA393147949SEMA7Ac.436A>C (p.Asn146His)
c.-60A>C (n.-60A>C)
c.394A>C (p.Asn132His)
15g.74417907G>ACA491212802SEMA7Ac.435C>T (p.Thr145=)
c.-61C>T (n.-61C>T)
c.393C>T (p.Thr131=)
dbSNP gnomAD v2 gnomAD v4
15g.74417907G>CCA491212803SEMA7Ac.435C>G (p.Thr145=)
c.-61C>G (n.-61C>G)
c.393C>G (p.Thr131=)
15g.74417907G=CA2187679163SEMA7Ac.435C= (p.Thr145=)
c.-61C= (n.-61C=)
c.393C= (p.Thr131=)
15g.74417907G>TCA491212804SEMA7Ac.435C>A (p.Thr145=)
c.-61C>A (n.-61C>A)
c.393C>A (p.Thr131=)
gnomAD v4
15g.74417908delCA2839445581SEMA7Ac.435del (p.Asn146ThrfsTer11)
c.-61del (n.-61del)
c.393del (p.Asn132ThrfsTer11)
15g.74417908G>ACA393147952SEMA7Ac.434C>T (p.Thr145Ile)
c.-62C>T (n.-62C>T)
c.392C>T (p.Thr131Ile)
15g.74417908G>CCA393147953SEMA7Ac.434C>G (p.Thr145Ser)
c.-62C>G (n.-62C>G)
c.392C>G (p.Thr131Ser)
15g.74417908G>TCA393147954SEMA7Ac.434C>A (p.Thr145Asn)
c.-62C>A (n.-62C>A)
c.392C>A (p.Thr131Asn)
15g.74417909T>ACA393147956SEMA7Ac.433A>T (p.Thr145Ser)
c.-63A>T (n.-63A>T)
c.391A>T (p.Thr131Ser)
15g.74417909T>CCA7657259SEMA7Ac.433A>G (p.Thr145Ala)
c.-63A>G (n.-63A>G)
c.391A>G (p.Thr131Ala)
dbSNP ExAC gnomAD v4
15g.74417909T>GCA393147960SEMA7Ac.433A>C (p.Thr145Pro)
c.-63A>C (n.-63A>C)
c.391A>C (p.Thr131Pro)
15g.74417909T=CA2187679165SEMA7Ac.433A= (p.Thr145=)
c.-63A= (n.-63A=)
c.391A= (p.Thr131=)
15g.74417910G>ACA491212805SEMA7Ac.432C>T (p.Gly144=)
c.-64C>T (n.-64C>T)
c.390C>T (p.Gly130=)
gnomAD v4
15g.74417910G>CCA491212806SEMA7Ac.432C>G (p.Gly144=)
c.-64C>G (n.-64C>G)
c.390C>G (p.Gly130=)
15g.74417910G>TCA491212807SEMA7Ac.432C>A (p.Gly144=)
c.-64C>A (n.-64C>A)
c.390C>A (p.Gly130=)
15g.74417911C>ACA393147966SEMA7Ac.431G>T (p.Gly144Val)
c.-65G>T (n.-65G>T)
c.389G>T (p.Gly130Val)
15g.74417911C>GCA393147962SEMA7Ac.431G>C (p.Gly144Ala)
c.-65G>C (n.-65G>C)
c.389G>C (p.Gly130Ala)
15g.74417911C>TCA393147964SEMA7Ac.431G>A (p.Gly144Asp)
c.-65G>A (n.-65G>A)
c.389G>A (p.Gly130Asp)
15g.74417912C>ACA393147967SEMA7Ac.430G>T (p.Gly144Cys)
c.-66G>T (n.-66G>T)
c.388G>T (p.Gly130Cys)
15g.74417912C>GCA393147969SEMA7Ac.430G>C (p.Gly144Arg)
c.-66G>C (n.-66G>C)
c.388G>C (p.Gly130Arg)
15g.74417912C>TCA393147970SEMA7Ac.430G>A (p.Gly144Ser)
c.-66G>A (n.-66G>A)
c.388G>A (p.Gly130Ser)
15g.74417913A>CCA393147973SEMA7Ac.429T>G (p.Cys143Trp)
c.-67T>G (n.-67T>G)
c.387T>G (p.Cys129Trp)
15g.74417913A>GCA491212808SEMA7Ac.429T>C (p.Cys143=)
c.-67T>C (n.-67T>C)
c.387T>C (p.Cys129=)
15g.74417913A>TCA393147974SEMA7Ac.429T>A (p.Cys143Ter)
c.-67T>A (n.-67T>A)
c.387T>A (p.Cys129Ter)
15g.74417914C>ACA393147976SEMA7Ac.428G>T (p.Cys143Phe)
c.-68G>T (n.-68G>T)
c.386G>T (p.Cys129Phe)
15g.74417914C>GCA393147978SEMA7Ac.428G>C (p.Cys143Ser)
c.-68G>C (n.-68G>C)
c.386G>C (p.Cys129Ser)
gnomAD v4
15g.74417914C>TCA393147980SEMA7Ac.428G>A (p.Cys143Tyr)
c.-68G>A (n.-68G>A)
c.386G>A (p.Cys129Tyr)
15g.74417915A>CCA393147982SEMA7Ac.427T>G (p.Cys143Gly)
c.-69T>G (n.-69T>G)
c.385T>G (p.Cys129Gly)
15g.74417915A>GCA393147983SEMA7Ac.427T>C (p.Cys143Arg)
c.-69T>C (n.-69T>C)
c.385T>C (p.Cys129Arg)
15g.74417915A>TCA393147984SEMA7Ac.427T>A (p.Cys143Ser)
c.-69T>A (n.-69T>A)
c.385T>A (p.Cys129Ser)
15g.74417916G>ACA491212809SEMA7Ac.426C>T (p.Ala142=)
c.-70C>T (n.-70C>T)
c.384C>T (p.Ala128=)
gnomAD v4
15g.74417916G>CCA491212810SEMA7Ac.426C>G (p.Ala142=)
c.-70C>G (n.-70C>G)
c.384C>G (p.Ala128=)
gnomAD v4
15g.74417916G>TCA491212811SEMA7Ac.426C>A (p.Ala142=)
c.-70C>A (n.-70C>A)
c.384C>A (p.Ala128=)
15g.74417917G>ACA393147990SEMA7Ac.425C>T (p.Ala142Val)
c.-71C>T (n.-71C>T)
c.383C>T (p.Ala128Val)
15g.74417917G>CCA393147988SEMA7Ac.425C>G (p.Ala142Gly)
c.-71C>G (n.-71C>G)
c.383C>G (p.Ala128Gly)
15g.74417917G>TCA393147986SEMA7Ac.425C>A (p.Ala142Asp)
c.-71C>A (n.-71C>A)
c.383C>A (p.Ala128Asp)
15g.74417918C>ACA393147992SEMA7Ac.424G>T (p.Ala142Ser)
c.-72G>T (n.-72G>T)
c.382G>T (p.Ala128Ser)
15g.74417918C>GCA393147996SEMA7Ac.424G>C (p.Ala142Pro)
c.-72G>C (n.-72G>C)
c.382G>C (p.Ala128Pro)
15g.74417918C>TCA393147994SEMA7Ac.424G>A (p.Ala142Thr)
c.-72G>A (n.-72G>A)
c.382G>A (p.Ala128Thr)
15g.74417919delCA2841542031SEMA7Ac.424del (p.Ala142ProfsTer15)
c.-72del (n.-72del)
c.382del (p.Ala128ProfsTer15)
15g.74417919C>ACA491212813SEMA7Ac.423G>T (p.Leu141=)
c.-73G>T (n.-73G>T)
c.381G>T (p.Leu127=)
15g.74417919C>GCA491212814SEMA7Ac.423G>C (p.Leu141=)
c.-73G>C (n.-73G>C)
c.381G>C (p.Leu127=)
15g.74417919C>TCA491212815SEMA7Ac.423G>A (p.Leu141=)
c.-73G>A (n.-73G>A)
c.381G>A (p.Leu127=)
15g.74417920A>CCA393147998SEMA7Ac.422T>G (p.Leu141Arg)
c.-74T>G (n.-74T>G)
c.380T>G (p.Leu127Arg)
15g.74417920A>GCA393148000SEMA7Ac.422T>C (p.Leu141Pro)
c.-74T>C (n.-74T>C)
c.380T>C (p.Leu127Pro)
15g.74417920A>TCA393148002SEMA7Ac.422T>A (p.Leu141Gln)
c.-74T>A (n.-74T>A)
c.380T>A (p.Leu127Gln)
15g.74417921G>ACA491212816SEMA7Ac.421C>T (p.Leu141=)
c.-75C>T (n.-75C>T)
c.379C>T (p.Leu127=)
15g.74417921G>CCA393148004SEMA7Ac.421C>G (p.Leu141Val)
c.-75C>G (n.-75C>G)
c.379C>G (p.Leu127Val)
15g.74417921G>TCA393148006SEMA7Ac.421C>A (p.Leu141Met)
c.-75C>A (n.-75C>A)
c.379C>A (p.Leu127Met)
15g.74417922C>ACA491212819SEMA7Ac.420G>T (p.Leu140=)
c.-76G>T (n.-76G>T)
c.378G>T (p.Leu126=)
dbSNP
15g.74417922C=CA2187679170SEMA7Ac.420G= (p.Leu140=)
c.-76G= (n.-76G=)
c.378G= (p.Leu126=)
15g.74417922C>GCA491212818SEMA7Ac.420G>C (p.Leu140=)
c.-76G>C (n.-76G>C)
c.378G>C (p.Leu126=)
15g.74417922C>TCA491212817SEMA7Ac.420G>A (p.Leu140=)
c.-76G>A (n.-76G>A)
c.378G>A (p.Leu126=)
15g.74417923A=CA2187679177SEMA7Ac.419T= (p.Leu140=)
c.-77T= (n.-77T=)
c.377T= (p.Leu126=)
15g.74417923A>CCA393148008SEMA7Ac.419T>G (p.Leu140Arg)
c.-77T>G (n.-77T>G)
c.377T>G (p.Leu126Arg)
dbSNP gnomAD v2 gnomAD v4
15g.74417923A>GCA393148010SEMA7Ac.419T>C (p.Leu140Pro)
c.-77T>C (n.-77T>C)
c.377T>C (p.Leu126Pro)
dbSNP
15g.74417923A>TCA393148012SEMA7Ac.419T>A (p.Leu140Gln)
c.-77T>A (n.-77T>A)
c.377T>A (p.Leu126Gln)
15g.74417924G>ACA491212820SEMA7Ac.418C>T (p.Leu140=)
c.-78C>T (n.-78C>T)
c.376C>T (p.Leu126=)
15g.74417924G>CCA393148014SEMA7Ac.418C>G (p.Leu140Val)
c.-78C>G (n.-78C>G)
c.376C>G (p.Leu126Val)
15g.74417924G>TCA393148016SEMA7Ac.418C>A (p.Leu140Met)
c.-78C>A (n.-78C>A)
c.376C>A (p.Leu126Met)
15g.74417925C>ACA491212821SEMA7Ac.417G>T (p.Gly139=)
c.-79G>T (n.-79G>T)
c.375G>T (p.Gly125=)
dbSNP gnomAD v4
15g.74417925C=CA2187679179SEMA7Ac.417G= (p.Gly139=)
c.-79G= (n.-79G=)
c.375G= (p.Gly125=)
15g.74417925C>GCA491212822SEMA7Ac.417G>C (p.Gly139=)
c.-79G>C (n.-79G>C)
c.375G>C (p.Gly125=)
15g.74417925C>TCA491212823SEMA7Ac.417G>A (p.Gly139=)
c.-79G>A (n.-79G>A)
c.375G>A (p.Gly125=)
15g.74417926C>ACA393148018SEMA7Ac.416G>T (p.Gly139Val)
c.-80G>T (n.-80G>T)
c.374G>T (p.Gly125Val)
15g.74417926C=CA2187679182SEMA7Ac.416G= (p.Gly139=)
c.-80G= (n.-80G=)
c.374G= (p.Gly125=)
15g.74417926C>GCA393148020SEMA7Ac.416G>C (p.Gly139Ala)
c.-80G>C (n.-80G>C)
c.374G>C (p.Gly125Ala)
15g.74417926C>TCA393148022SEMA7Ac.416G>A (p.Gly139Glu)
c.-80G>A (n.-80G>A)
c.374G>A (p.Gly125Glu)
dbSNP gnomAD v4
15g.74417927C>ACA393148024SEMA7Ac.415G>T (p.Gly139Trp)
c.-81G>T (n.-81G>T)
c.373G>T (p.Gly125Trp)
15g.74417927C=CA2187679185SEMA7Ac.415G= (p.Gly139=)
c.-81G= (n.-81G=)
c.373G= (p.Gly125=)
15g.74417927C>GCA393148028SEMA7Ac.415G>C (p.Gly139Arg)
c.-81G>C (n.-81G>C)
c.373G>C (p.Gly125Arg)
15g.74417927C>TCA393148026SEMA7Ac.415G>A (p.Gly139Arg)
c.-81G>A (n.-81G>A)
c.373G>A (p.Gly125Arg)
dbSNP gnomAD v3 gnomAD v4
15g.74417928C>ACA393148030SEMA7Ac.414G>T (p.Glu138Asp)
c.-82G>T (n.-82G>T)
c.372G>T (p.Glu124Asp)
15g.74417928C=CA2187679188SEMA7Ac.414G= (p.Glu138=)
c.-82G= (n.-82G=)
c.372G= (p.Glu124=)
15g.74417928C>GCA393148032SEMA7Ac.414G>C (p.Glu138Asp)
c.-82G>C (n.-82G>C)
c.372G>C (p.Glu124Asp)
15g.74417928C>TCA491212824SEMA7Ac.414G>A (p.Glu138=)
c.-82G>A (n.-82G>A)
c.372G>A (p.Glu124=)
dbSNP gnomAD v2 gnomAD v4
15g.74417929T>ACA393148034SEMA7Ac.413A>T (p.Glu138Val)
c.-83A>T (n.-83A>T)
c.371A>T (p.Glu124Val)
15g.74417929T>CCA393148035SEMA7Ac.413A>G (p.Glu138Gly)
c.-83A>G (n.-83A>G)
c.371A>G (p.Glu124Gly)
gnomAD v4
15g.74417929T>GCA393148037SEMA7Ac.413A>C (p.Glu138Ala)
c.-83A>C (n.-83A>C)
c.371A>C (p.Glu124Ala)
15g.74417930C>ACA393148040SEMA7Ac.412G>T (p.Glu138Ter)
c.-84G>T (n.-84G>T)
c.370G>T (p.Glu124Ter)
15g.74417930C>GCA393148041SEMA7Ac.412G>C (p.Glu138Gln)
c.-84G>C (n.-84G>C)
c.370G>C (p.Glu124Gln)
15g.74417930C>TCA393148042SEMA7Ac.412G>A (p.Glu138Lys)
c.-84G>A (n.-84G>A)
c.370G>A (p.Glu124Lys)
15g.74417931A>CCA393148044SEMA7Ac.411T>G (p.Ser137Arg)
c.-85T>G (n.-85T>G)
c.369T>G (p.Ser123Arg)
15g.74417931A>GCA491212825SEMA7Ac.411T>C (p.Ser137=)
c.-85T>C (n.-85T>C)
c.369T>C (p.Ser123=)
15g.74417931A>TCA393148046SEMA7Ac.411T>A (p.Ser137Arg)
c.-85T>A (n.-85T>A)
c.369T>A (p.Ser123Arg)
15g.74417932C>ACA393148053SEMA7Ac.410G>T (p.Ser137Ile)
c.-86G>T (n.-86G>T)
c.368G>T (p.Ser123Ile)
gnomAD v4
15g.74417932C>GCA393148051SEMA7Ac.410G>C (p.Ser137Thr)
c.-86G>C (n.-86G>C)
c.368G>C (p.Ser123Thr)
15g.74417932C>TCA393148049SEMA7Ac.410G>A (p.Ser137Asn)
c.-86G>A (n.-86G>A)
c.368G>A (p.Ser123Asn)
gnomAD v4
15g.74417933T>ACA393148055SEMA7Ac.409A>T (p.Ser137Cys)
c.-87A>T (n.-87A>T)
c.367A>T (p.Ser123Cys)
15g.74417933T>CCA7657260SEMA7Ac.409A>G (p.Ser137Gly)
c.-87A>G (n.-87A>G)
c.367A>G (p.Ser123Gly)
dbSNP ExAC gnomAD v2
15g.74417933T>GCA393148057SEMA7Ac.409A>C (p.Ser137Arg)
c.-87A>C (n.-87A>C)
c.367A>C (p.Ser123Arg)
dbSNP
15g.74417933T=CA2187679192SEMA7Ac.409A= (p.Ser137=)
c.-87A= (n.-87A=)
c.367A= (p.Ser123=)
15g.74417934C>ACA491212826SEMA7Ac.408G>T (p.Arg136=)
c.-88G>T (n.-88G>T)
c.366G>T (p.Arg122=)
gnomAD v4
15g.74417934C>GCA491212827SEMA7Ac.408G>C (p.Arg136=)
c.-88G>C (n.-88G>C)
c.366G>C (p.Arg122=)
15g.74417934C>TCA491212828SEMA7Ac.408G>A (p.Arg136=)
c.-88G>A (n.-88G>A)
c.366G>A (p.Arg122=)
15g.74417935C>ACA393148058SEMA7Ac.407G>T (p.Arg136Leu)
c.-89G>T (n.-89G>T)
c.365G>T (p.Arg122Leu)
15g.74417935C=CA2187679196SEMA7Ac.407G= (p.Arg136=)
c.-89G= (n.-89G=)
c.365G= (p.Arg122=)
15g.74417935C>GCA393148059SEMA7Ac.407G>C (p.Arg136Pro)
c.-89G>C (n.-89G>C)
c.365G>C (p.Arg122Pro)
15g.74417935C>TCA7657261SEMA7Ac.407G>A (p.Arg136Gln)
c.-89G>A (n.-89G>A)
c.365G>A (p.Arg122Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.74417936G>ACA7657262SEMA7Ac.406C>T (p.Arg136Trp)
c.-90C>T (n.-90C>T)
c.364C>T (p.Arg122Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417936G>CCA393148063SEMA7Ac.406C>G (p.Arg136Gly)
c.-90C>G (n.-90C>G)
c.364C>G (p.Arg122Gly)
15g.74417936G=CA2187679202SEMA7Ac.406C= (p.Arg136=)
c.-90C= (n.-90C=)
c.364C= (p.Arg122=)
15g.74417936G>TCA491212830SEMA7Ac.406C>A (p.Arg136=)
c.-90C>A (n.-90C>A)
c.364C>A (p.Arg122=)
gnomAD v4
15g.74417936_74417937delinsGCCA2187679205SEMA7Ac.405_406delinsGC (p.Arg135=)
c.-91_-90delinsGC (n.-91_-90delinsGC)
c.363_364delinsGC (p.Arg121=)
15g.74417937C>ACA393148065SEMA7Ac.405G>T (p.Arg135Ser)
c.-91G>T (n.-91G>T)
c.363G>T (p.Arg121Ser)
15g.74417937C=CA2187679213SEMA7Ac.405G= (p.Arg135=)
c.-91G= (n.-91G=)
c.363G= (p.Arg121=)
15g.74417937C>GCA7657264SEMA7Ac.405G>C (p.Arg135Ser)
c.-91G>C (n.-91G>C)
c.363G>C (p.Arg121Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417937C>TCA7657263SEMA7Ac.405G>A (p.Arg135=)
c.-91G>A (n.-91G>A)
c.363G>A (p.Arg121=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74417938delCA2187679212SEMA7Ac.405del (p.Arg135SerfsTer22)
c.-91del (n.-91del)
c.363del (p.Arg121SerfsTer22)
dbSNP
15g.74417938C>ACA393148070SEMA7Ac.404G>T (p.Arg135Met)
c.-92G>T (n.-92G>T)
c.362G>T (p.Arg121Met)
15g.74417938C>GCA393148071SEMA7Ac.404G>C (p.Arg135Thr)
c.-92G>C (n.-92G>C)
c.362G>C (p.Arg121Thr)
15g.74417938C>TCA393148072SEMA7Ac.404G>A (p.Arg135Lys)
c.-92G>A (n.-92G>A)
c.362G>A (p.Arg121Lys)
gnomAD v4
15g.74417939T>ACA393148075SEMA7Ac.403A>T (p.Arg135Trp)
c.-93A>T (n.-93A>T)
c.361A>T (p.Arg121Trp)
15g.74417939T>CCA393148077SEMA7Ac.403A>G (p.Arg135Gly)
c.-93A>G (n.-93A>G)
c.361A>G (p.Arg121Gly)
gnomAD v4
15g.74417939T>GCA491212834SEMA7Ac.403A>C (p.Arg135=)
c.-93A>C (n.-93A>C)
c.361A>C (p.Arg121=)
15g.74417940C>ACA393148078SEMA7Ac.402G>T (p.Glu134Asp)
c.-94G>T (n.-94G>T)
c.360G>T (p.Glu120Asp)
15g.74417940C>GCA393148080SEMA7Ac.402G>C (p.Glu134Asp)
c.-94G>C (n.-94G>C)
c.360G>C (p.Glu120Asp)
gnomAD v4
15g.74417940C>TCA491212838SEMA7Ac.402G>A (p.Glu134=)
c.-94G>A (n.-94G>A)
c.360G>A (p.Glu120=)
15g.74417941delCA2841542032SEMA7Ac.401del (p.Glu134GlyfsTer23)
c.-95del (n.-95del)
c.359del (p.Glu120GlyfsTer23)
15g.74417941T>ACA393148082SEMA7Ac.401A>T (p.Glu134Val)
c.-95A>T (n.-95A>T)
c.359A>T (p.Glu120Val)
15g.74417941T>CCA393148083SEMA7Ac.401A>G (p.Glu134Gly)
c.-95A>G (n.-95A>G)
c.359A>G (p.Glu120Gly)
15g.74417941T>GCA393148084SEMA7Ac.401A>C (p.Glu134Ala)
c.-95A>C (n.-95A>C)
c.359A>C (p.Glu120Ala)
gnomAD v4
15g.74417942C>ACA393148088SEMA7Ac.400G>T (p.Glu134Ter)
c.-96G>T (n.-96G>T)
c.358G>T (p.Glu120Ter)
15g.74417942C>GCA393148089SEMA7Ac.400G>C (p.Glu134Gln)
c.-96G>C (n.-96G>C)
c.358G>C (p.Glu120Gln)
15g.74417942C>TCA393148091SEMA7Ac.400G>A (p.Glu134Lys)
c.-96G>A (n.-96G>A)
c.358G>A (p.Glu120Lys)
15g.74417943C>ACA491212839SEMA7Ac.399G>T (p.Leu133=)
c.-97G>T (n.-97G>T)
c.357G>T (p.Leu119=)
15g.74417943C=CA2187679218SEMA7Ac.399G= (p.Leu133=)
c.-97G= (n.-97G=)
c.357G= (p.Leu119=)
15g.74417943C>GCA491212840SEMA7Ac.399G>C (p.Leu133=)
c.-97G>C (n.-97G>C)
c.357G>C (p.Leu119=)
15g.74417943C>TCA7657265SEMA7Ac.399G>A (p.Leu133=)
c.-97G>A (n.-97G>A)
c.357G>A (p.Leu119=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74417944A=CA2187679221SEMA7Ac.398T= (p.Leu133=)
c.-98T= (n.-98T=)
c.356T= (p.Leu119=)
15g.74417944A>CCA393148094SEMA7Ac.398T>G (p.Leu133Arg)
c.-98T>G (n.-98T>G)
c.356T>G (p.Leu119Arg)
15g.74417944A>GCA393148096SEMA7Ac.398T>C (p.Leu133Pro)
c.-98T>C (n.-98T>C)
c.356T>C (p.Leu119Pro)
dbSNP gnomAD v4
15g.74417944A>TCA393148098SEMA7Ac.398T>A (p.Leu133Gln)
c.-98T>A (n.-98T>A)
c.356T>A (p.Leu119Gln)
15g.74417945G>ACA491212842SEMA7Ac.397C>T (p.Leu133=)
c.-99C>T (n.-99C>T)
c.355C>T (p.Leu119=)
gnomAD v4
15g.74417945G>CCA393148100SEMA7Ac.397C>G (p.Leu133Val)
c.-99C>G (n.-99C>G)
c.355C>G (p.Leu119Val)
dbSNP
15g.74417945G=CA2187679223SEMA7Ac.397C= (p.Leu133=)
c.-99C= (n.-99C=)
c.355C= (p.Leu119=)
15g.74417945G>TCA393148102SEMA7Ac.397C>A (p.Leu133Met)
c.-99C>A (n.-99C>A)
c.355C>A (p.Leu119Met)
15g.74417946G>ACA491212845SEMA7Ac.396C>T (p.Leu132=)
c.-100C>T (n.-100C>T)
c.354C>T (p.Leu118=)
15g.74417946G>CCA491212846SEMA7Ac.396C>G (p.Leu132=)
c.-100C>G (n.-100C>G)
c.354C>G (p.Leu118=)
15g.74417946G=CA2187679225SEMA7Ac.396C= (p.Leu132=)
c.-100C= (n.-100C=)
c.354C= (p.Leu118=)
15g.74417946G>TCA7657266SEMA7Ac.396C>A (p.Leu132=)
c.-100C>A (n.-100C>A)
c.354C>A (p.Leu118=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74417947A>CCA393148106SEMA7Ac.395T>G (p.Leu132Arg)
c.-101T>G (n.-101T>G)
c.353T>G (p.Leu118Arg)
15g.74417947A>GCA393148107SEMA7Ac.395T>C (p.Leu132Pro)
c.-101T>C (n.-101T>C)
c.353T>C (p.Leu118Pro)
15g.74417947A>TCA393148109SEMA7Ac.395T>A (p.Leu132His)
c.-101T>A (n.-101T>A)
c.353T>A (p.Leu118His)
15g.74417948G>ACA393148110SEMA7Ac.394C>T (p.Leu132Phe)
c.-102C>T (n.-102C>T)
c.352C>T (p.Leu118Phe)
COSMIC
15g.74417948G>CCA393148113SEMA7Ac.394C>G (p.Leu132Val)
c.-102C>G (n.-102C>G)
c.352C>G (p.Leu118Val)
15g.74417948G>TCA393148115SEMA7Ac.394C>A (p.Leu132Ile)
c.-102C>A (n.-102C>A)
c.352C>A (p.Leu118Ile)
COSMIC
15g.74417949A>CCA491212848SEMA7Ac.393T>G (p.Thr131=)
c.-103T>G (n.-103T>G)
c.351T>G (p.Thr117=)
15g.74417949A>GCA491212849SEMA7Ac.393T>C (p.Thr131=)
c.-103T>C (n.-103T>C)
c.351T>C (p.Thr117=)
15g.74417949A>TCA491212851SEMA7Ac.393T>A (p.Thr131=)
c.-103T>A (n.-103T>A)
c.351T>A (p.Thr117=)
15g.74417950G>ACA393148121SEMA7Ac.392C>T (p.Thr131Ile)
c.-104C>T (n.-104C>T)
c.350C>T (p.Thr117Ile)
15g.74417950G>CCA393148117SEMA7Ac.392C>G (p.Thr131Ser)
c.-104C>G (n.-104C>G)
c.350C>G (p.Thr117Ser)
15g.74417950G>TCA393148119SEMA7Ac.392C>A (p.Thr131Asn)
c.-104C>A (n.-104C>A)
c.350C>A (p.Thr117Asn)
15g.74417951T>ACA393148123SEMA7Ac.391A>T (p.Thr131Ser)
c.-105A>T (n.-105A>T)
c.349A>T (p.Thr117Ser)
15g.74417951T>CCA393148124SEMA7Ac.391A>G (p.Thr131Ala)
c.-105A>G (n.-105A>G)
c.349A>G (p.Thr117Ala)
15g.74417951T>GCA393148126SEMA7Ac.391A>C (p.Thr131Pro)
c.-105A>C (n.-105A>C)
c.349A>C (p.Thr117Pro)
15g.74417952G>ACA7657267SEMA7Ac.390C>T (p.Ile130=)
c.-106C>T (n.-106C>T)
c.348C>T (p.Ile116=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417952G>CCA393148130SEMA7Ac.390C>G (p.Ile130Met)
c.-106C>G (n.-106C>G)
c.348C>G (p.Ile116Met)
15g.74417952G=CA2187679228SEMA7Ac.390C= (p.Ile130=)
c.-106C= (n.-106C=)
c.348C= (p.Ile116=)
15g.74417952G>TCA491212855SEMA7Ac.390C>A (p.Ile130=)
c.-106C>A (n.-106C>A)
c.348C>A (p.Ile116=)
gnomAD v4
15g.74417953A>CCA393148136SEMA7Ac.389T>G (p.Ile130Ser)
c.-107T>G (n.-107T>G)
c.347T>G (p.Ile116Ser)
15g.74417953A>GCA393148132SEMA7Ac.389T>C (p.Ile130Thr)
c.-107T>C (n.-107T>C)
c.347T>C (p.Ile116Thr)
15g.74417953A>TCA393148134SEMA7Ac.389T>A (p.Ile130Asn)
c.-107T>A (n.-107T>A)
c.347T>A (p.Ile116Asn)
15g.74417954T>ACA393148138SEMA7Ac.388A>T (p.Ile130Phe)
c.-108A>T (n.-108A>T)
c.346A>T (p.Ile116Phe)
15g.74417954T>CCA393148140SEMA7Ac.388A>G (p.Ile130Val)
c.-108A>G (n.-108A>G)
c.346A>G (p.Ile116Val)
dbSNP gnomAD v2 gnomAD v4 COSMIC
15g.74417954T>GCA393148141SEMA7Ac.388A>C (p.Ile130Leu)
c.-108A>C (n.-108A>C)
c.346A>C (p.Ile116Leu)
15g.74417954T=CA2187679233SEMA7Ac.388A= (p.Ile130=)
c.-108A= (n.-108A=)
c.346A= (p.Ile116=)
15g.74417955G>ACA491212856SEMA7Ac.387C>T (p.Tyr129=)
c.-109C>T (n.-109C>T)
c.345C>T (p.Tyr115=)
dbSNP gnomAD v2 gnomAD v4
15g.74417955G>CCA393148142SEMA7Ac.387C>G (p.Tyr129Ter)
c.-109C>G (n.-109C>G)
c.345C>G (p.Tyr115Ter)
15g.74417955G=CA2187679236SEMA7Ac.387C= (p.Tyr129=)
c.-109C= (n.-109C=)
c.345C= (p.Tyr115=)
15g.74417955G>TCA393148143SEMA7Ac.387C>A (p.Tyr129Ter)
c.-109C>A (n.-109C>A)
c.345C>A (p.Tyr115Ter)
15g.74417956T>ACA393148145SEMA7Ac.386A>T (p.Tyr129Phe)
c.-110A>T (n.-110A>T)
c.344A>T (p.Tyr115Phe)
15g.74417956T>CCA393148147SEMA7Ac.386A>G (p.Tyr129Cys)
c.-110A>G (n.-110A>G)
c.344A>G (p.Tyr115Cys)
gnomAD v4
15g.74417956T>GCA393148148SEMA7Ac.386A>C (p.Tyr129Ser)
c.-110A>C (n.-110A>C)
c.344A>C (p.Tyr115Ser)
15g.74417957_74417971delCA2629481764SEMA7Ac.373-1_386del
c.-123-1_-110del
c.331-1_344del
gnomAD v4
15g.74417957A=CA2187679238SEMA7Ac.385T= (p.Tyr129=)
c.-111T= (n.-111T=)
c.343T= (p.Tyr115=)
15g.74417957A>CCA393148151SEMA7Ac.385T>G (p.Tyr129Asp)
c.-111T>G (n.-111T>G)
c.343T>G (p.Tyr115Asp)
dbSNP gnomAD v4
15g.74417957A>GCA393148152SEMA7Ac.385T>C (p.Tyr129His)
c.-111T>C (n.-111T>C)
c.343T>C (p.Tyr115His)
15g.74417957A>TCA393148154SEMA7Ac.385T>A (p.Tyr129Asn)
c.-111T>A (n.-111T>A)
c.343T>A (p.Tyr115Asn)
15g.74417958G>ACA491212860SEMA7Ac.384C>T (p.Asn128=)
c.-112C>T (n.-112C>T)
c.342C>T (p.Asn114=)
15g.74417958G>CCA393148156SEMA7Ac.384C>G (p.Asn128Lys)
c.-112C>G (n.-112C>G)
c.342C>G (p.Asn114Lys)
15g.74417958G>TCA393148158SEMA7Ac.384C>A (p.Asn128Lys)
c.-112C>A (n.-112C>A)
c.342C>A (p.Asn114Lys)
15g.74417959T>ACA393148160SEMA7Ac.383A>T (p.Asn128Ile)
c.-113A>T (n.-113A>T)
c.341A>T (p.Asn114Ile)
15g.74417959T>CCA7657268SEMA7Ac.383A>G (p.Asn128Ser)
c.-113A>G (n.-113A>G)
c.341A>G (p.Asn114Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74417959T>GCA393148163SEMA7Ac.383A>C (p.Asn128Thr)
c.-113A>C (n.-113A>C)
c.341A>C (p.Asn114Thr)
15g.74417959T=CA2187679241SEMA7Ac.383A= (p.Asn128=)
c.-113A= (n.-113A=)
c.341A= (p.Asn114=)
15g.74417960T>ACA393148166SEMA7Ac.382A>T (p.Asn128Tyr)
c.-114A>T (n.-114A>T)
c.340A>T (p.Asn114Tyr)
15g.74417960T>CCA393148168SEMA7Ac.382A>G (p.Asn128Asp)
c.-114A>G (n.-114A>G)
c.340A>G (p.Asn114Asp)
15g.74417960T>GCA393148169SEMA7Ac.382A>C (p.Asn128His)
c.-114A>C (n.-114A>C)
c.340A>C (p.Asn114His)
15g.74417961C>ACA393148171SEMA7Ac.381G>T (p.Glu127Asp)
c.-115G>T (n.-115G>T)
c.339G>T (p.Glu113Asp)
15g.74417961C=CA2187679244SEMA7Ac.381G= (p.Glu127=)
c.-115G= (n.-115G=)
c.339G= (p.Glu113=)
15g.74417961C>GCA393148173SEMA7Ac.381G>C (p.Glu127Asp)
c.-115G>C (n.-115G>C)
c.339G>C (p.Glu113Asp)
15g.74417961C>TCA491212862SEMA7Ac.381G>A (p.Glu127=)
c.-115G>A (n.-115G>A)
c.339G>A (p.Glu113=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74417962T>ACA393148179SEMA7Ac.380A>T (p.Glu127Val)
c.-116A>T (n.-116A>T)
c.338A>T (p.Glu113Val)
15g.74417962T>CCA393148177SEMA7Ac.380A>G (p.Glu127Gly)
c.-116A>G (n.-116A>G)
c.338A>G (p.Glu113Gly)
15g.74417962T>GCA393148175SEMA7Ac.380A>C (p.Glu127Ala)
c.-116A>C (n.-116A>C)
c.338A>C (p.Glu113Ala)
15g.74417963C>ACA393148181SEMA7Ac.379G>T (p.Glu127Ter)
c.-117G>T (n.-117G>T)
c.337G>T (p.Glu113Ter)
15g.74417963C=CA2187679246SEMA7Ac.379G= (p.Glu127=)
c.-117G= (n.-117G=)
c.337G= (p.Glu113=)
15g.74417963C>GCA393148184SEMA7Ac.379G>C (p.Glu127Gln)
c.-117G>C (n.-117G>C)
c.337G>C (p.Glu113Gln)
15g.74417963C>TCA7657269SEMA7Ac.379G>A (p.Glu127Lys)
c.-117G>A (n.-117G>A)
c.337G>A (p.Glu113Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417964G>ACA7657270SEMA7Ac.378C>T (p.Cys126=)
c.-118C>T (n.-118C>T)
c.336C>T (p.Cys112=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417964G>CCA393148187SEMA7Ac.378C>G (p.Cys126Trp)
c.-118C>G (n.-118C>G)
c.336C>G (p.Cys112Trp)
15g.74417964G=CA2187679249SEMA7Ac.378C= (p.Cys126=)
c.-118C= (n.-118C=)
c.336C= (p.Cys112=)
15g.74417964G>TCA393148189SEMA7Ac.378C>A (p.Cys126Ter)
c.-118C>A (n.-118C>A)
c.336C>A (p.Cys112Ter)
gnomAD v4
15g.74417965C>ACA393148191SEMA7Ac.377G>T (p.Cys126Phe)
c.-119G>T (n.-119G>T)
c.335G>T (p.Cys112Phe)
gnomAD v4
15g.74417965C>GCA393148195SEMA7Ac.377G>C (p.Cys126Ser)
c.-119G>C (n.-119G>C)
c.335G>C (p.Cys112Ser)
15g.74417965C>TCA393148193SEMA7Ac.377G>A (p.Cys126Tyr)
c.-119G>A (n.-119G>A)
c.335G>A (p.Cys112Tyr)
15g.74417966A>CCA393148197SEMA7Ac.376T>G (p.Cys126Gly)
c.-120T>G (n.-120T>G)
c.334T>G (p.Cys112Gly)
15g.74417966A>GCA393148199SEMA7Ac.376T>C (p.Cys126Arg)
c.-120T>C (n.-120T>C)
c.334T>C (p.Cys112Arg)
15g.74417966A>TCA393148201SEMA7Ac.376T>A (p.Cys126Ser)
c.-120T>A (n.-120T>A)
c.334T>A (p.Cys112Ser)
15g.74417967G>ACA491212867SEMA7Ac.375C>T (p.Asp125=)
c.-121C>T (n.-121C>T)
c.333C>T (p.Asp111=)
15g.74417967G>CCA393148203SEMA7Ac.375C>G (p.Asp125Glu)
c.-121C>G (n.-121C>G)
c.333C>G (p.Asp111Glu)
15g.74417967G>TCA393148205SEMA7Ac.375C>A (p.Asp125Glu)
c.-121C>A (n.-121C>A)
c.333C>A (p.Asp111Glu)
15g.74417968T>ACA393148207SEMA7Ac.374A>T (p.Asp125Val)
c.-122A>T (n.-122A>T)
c.332A>T (p.Asp111Val)
15g.74417968T>CCA393148210SEMA7Ac.374A>G (p.Asp125Gly)
c.-122A>G (n.-122A>G)
c.332A>G (p.Asp111Gly)
15g.74417968T>GCA393148211SEMA7Ac.374A>C (p.Asp125Ala)
c.-122A>C (n.-122A>C)
c.332A>C (p.Asp111Ala)
15g.74417969C>ACA393148214SEMA7Ac.373G>T (p.Asp125Tyr)
c.-123G>T (n.-123G>T)
c.331G>T (p.Asp111Tyr)
15g.74417969C>GCA393148215SEMA7Ac.373G>C (p.Asp125His)
c.-123G>C (n.-123G>C)
c.331G>C (p.Asp111His)
15g.74417969C>TCA393148217SEMA7Ac.373G>A (p.Asp125Asn)
c.-123G>A (n.-123G>A)
c.331G>A (p.Asp111Asn)
15g.74417970C>ACA393148220SEMA7Ac.373-1G>T (n.373-1G>T)
c.-123-1G>T (n.-123-1G>T)
c.331-1G>T (n.331-1G>T)
15g.74417970C>GCA393148223SEMA7Ac.373-1G>C (n.373-1G>C)
c.-123-1G>C (n.-123-1G>C)
c.331-1G>C (n.331-1G>C)
15g.74417970C>TCA393148221SEMA7Ac.373-1G>A (n.373-1G>A)
c.-123-1G>A (n.-123-1G>A)
c.331-1G>A (n.331-1G>A)
15g.74417971T>ACA393148226SEMA7Ac.373-2A>T (n.373-2A>T)
c.-123-2A>T (n.-123-2A>T)
c.331-2A>T (n.331-2A>T)
15g.74417971T>CCA393148230SEMA7Ac.373-2A>G (n.373-2A>G)
c.-123-2A>G (n.-123-2A>G)
c.331-2A>G (n.331-2A>G)
15g.74417971T>GCA393148228SEMA7Ac.373-2A>C (n.373-2A>C)
c.-123-2A>C (n.-123-2A>C)
c.331-2A>C (n.331-2A>C)
15g.74417972G>ACA7657271SEMA7Ac.373-3C>T (n.373-3C>T)
c.-123-3C>T (n.-123-3C>T)
c.331-3C>T (n.331-3C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74417972G=CA2187679250SEMA7Ac.373-3C= (n.373-3C=)
c.-123-3C= (n.-123-3C=)
c.331-3C= (n.331-3C=)
15g.74417973C>ACA715642843SEMA7Ac.373-4G>T (n.373-4G>T)
c.-123-4G>T (n.-123-4G>T)
c.331-4G>T (n.331-4G>T)
dbSNP gnomAD v4
15g.74417973C=CA2187679252SEMA7Ac.373-4G= (n.373-4G=)
c.-123-4G= (n.-123-4G=)
c.331-4G= (n.331-4G=)
15g.74417975delCA2629481765SEMA7Ac.373-4del (n.373-4del)
c.-123-4del (n.-123-4del)
c.331-4del (n.331-4del)
gnomAD v4
15g.74417974C>ACA2841542033SEMA7Ac.373-5G>T (n.373-5G>T)
c.-123-5G>T (n.-123-5G>T)
c.331-5G>T (n.331-5G>T)
15g.74417974C=CA2187679255SEMA7Ac.373-5G= (n.373-5G=)
c.-123-5G= (n.-123-5G=)
c.331-5G= (n.331-5G=)
15g.74417974C>GCA619130355SEMA7Ac.373-5G>C (n.373-5G>C)
c.-123-5G>C (n.-123-5G>C)
c.331-5G>C (n.331-5G>C)
dbSNP gnomAD v2 gnomAD v4
15g.74417974C>TCA619130356SEMA7Ac.373-5G>A (n.373-5G>A)
c.-123-5G>A (n.-123-5G>A)
c.331-5G>A (n.331-5G>A)
dbSNP gnomAD v2 gnomAD v4
15g.74417975C>ACA2841542034SEMA7Ac.373-6G>T (n.373-6G>T)
c.-123-6G>T (n.-123-6G>T)
c.331-6G>T (n.331-6G>T)
15g.74417975C=CA2187679259SEMA7Ac.373-6G= (n.373-6G=)
c.-123-6G= (n.-123-6G=)
c.331-6G= (n.331-6G=)
15g.74417975C>GCA971468388SEMA7Ac.373-6G>C (n.373-6G>C)
c.-123-6G>C (n.-123-6G>C)
c.331-6G>C (n.331-6G>C)
dbSNP gnomAD v3 gnomAD v4
15g.74417975C>TCA272789859SEMA7Ac.373-6G>A (n.373-6G>A)
c.-123-6G>A (n.-123-6G>A)
c.331-6G>A (n.331-6G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched