Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.100191361dupCA2688091516SPAG1c.833-29dup (n.833-29dup)
c.938-29dup (n.938-29dup)
c.497-29dup (n.497-29dup)
n.919-29dup
 gnomAD v4
8g.100191359A>CCA4827374SPAG1c.833-31A>C (n.833-31A>C)
c.938-31A>C (n.938-31A>C)
c.497-31A>C (n.497-31A>C)
n.919-31A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191359A>GCA2688091517SPAG1c.833-31A>G (n.833-31A>G)
c.938-31A>G (n.938-31A>G)
c.497-31A>G (n.497-31A>G)
n.919-31A>G
 gnomAD v4
8g.100191361A>TCA2688091518SPAG1c.833-29A>T (n.833-29A>T)
c.938-29A>T (n.938-29A>T)
c.497-29A>T (n.497-29A>T)
n.919-29A>T
 gnomAD v4
8g.100191362delCA2579217830SPAG1c.833-28del (n.833-28del)
c.938-28del (n.938-28del)
c.497-28del (n.497-28del)
n.919-28del
 gnomAD v4
8g.100191363A>CCA2688091519SPAG1c.833-27A>C (n.833-27A>C)
c.938-27A>C (n.938-27A>C)
c.497-27A>C (n.497-27A>C)
n.919-27A>C
 gnomAD v4
8g.100191363A>GCA4827375SPAG1c.833-27A>G (n.833-27A>G)
c.938-27A>G (n.938-27A>G)
c.497-27A>G (n.497-27A>G)
n.919-27A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191364T>GCA2717825864SPAG1c.833-26T>G (n.833-26T>G)
c.938-26T>G (n.938-26T>G)
c.497-26T>G (n.497-26T>G)
n.919-26T>G
 dbSNP
8g.100191365A>GCA4827376SPAG1c.833-25A>G (n.833-25A>G)
c.938-25A>G (n.938-25A>G)
c.497-25A>G (n.497-25A>G)
n.919-25A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191367C>ACA4827377SPAG1c.833-23C>A (n.833-23C>A)
c.938-23C>A (n.938-23C>A)
c.497-23C>A (n.497-23C>A)
n.919-23C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191367C>TCA2688091520SPAG1c.833-23C>T (n.833-23C>T)
c.938-23C>T (n.938-23C>T)
c.497-23C>T (n.497-23C>T)
n.919-23C>T
 gnomAD v4
8g.100191370T>ACA2688091521SPAG1c.833-20T>A (n.833-20T>A)
c.938-20T>A (n.938-20T>A)
c.497-20T>A (n.497-20T>A)
n.919-20T>A
 gnomAD v4
8g.100191370T>CCA4827378SPAG1c.833-20T>C (n.833-20T>C)
c.938-20T>C (n.938-20T>C)
c.497-20T>C (n.497-20T>C)
n.919-20T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191371T>CCA2579217831SPAG1c.833-19T>C (n.833-19T>C)
c.938-19T>C (n.938-19T>C)
c.497-19T>C (n.497-19T>C)
n.919-19T>C
8g.100191373T>CCA2688091522SPAG1c.833-17T>C (n.833-17T>C)
c.938-17T>C (n.938-17T>C)
c.497-17T>C (n.497-17T>C)
n.919-17T>C
 gnomAD v4
8g.100191374A>GCA2717825865SPAG1c.833-16A>G (n.833-16A>G)
c.938-16A>G (n.938-16A>G)
c.497-16A>G (n.497-16A>G)
n.919-16A>G
 dbSNP
8g.100191375T>CCA2688091523SPAG1c.833-15T>C (n.833-15T>C)
c.938-15T>C (n.938-15T>C)
c.497-15T>C (n.497-15T>C)
n.919-15T>C
 gnomAD v4
8g.100191376T>GCA2688091524SPAG1c.833-14T>G (n.833-14T>G)
c.938-14T>G (n.938-14T>G)
c.497-14T>G (n.497-14T>G)
n.919-14T>G
 gnomAD v4
8g.100191377G>ACA2688091525SPAG1c.833-13G>A (n.833-13G>A)
c.938-13G>A (n.938-13G>A)
c.497-13G>A (n.497-13G>A)
n.919-13G>A
 gnomAD v4
8g.100191378G>ACA2500806568SPAG1c.833-12G>A (n.833-12G>A)
c.938-12G>A (n.938-12G>A)
c.497-12G>A (n.497-12G>A)
n.919-12G>A
 gnomAD v4
8g.100191378G>CCA583868085SPAG1c.833-12G>C (n.833-12G>C)
c.938-12G>C (n.938-12G>C)
c.497-12G>C (n.497-12G>C)
n.919-12G>C
 dbSNP gnomAD v2 gnomAD v4
8g.100191382delCA2688091526SPAG1c.833-8del (n.833-8del)
c.938-8del (n.938-8del)
c.497-8del (n.497-8del)
n.919-8del
 gnomAD v4
8g.100191382A>GCA1117147166SPAG1c.833-8A>G (n.833-8A>G)
c.938-8A>G (n.938-8A>G)
c.497-8A>G (n.497-8A>G)
n.919-8A>G
 dbSNP gnomAD v3 gnomAD v4
8g.100191384T>GCA2688091527SPAG1c.833-6T>G (n.833-6T>G)
c.938-6T>G (n.938-6T>G)
c.497-6T>G (n.497-6T>G)
n.919-6T>G
 gnomAD v4
8g.100191385T>GCA182368263SPAG1c.833-5T>G (n.833-5T>G)
c.938-5T>G (n.938-5T>G)
c.497-5T>G (n.497-5T>G)
n.919-5T>G
 dbSNP gnomAD v3 gnomAD v4
8g.100191387C>ACA2688091528SPAG1c.833-3C>A (n.833-3C>A)
c.938-3C>A (n.938-3C>A)
c.497-3C>A (n.497-3C>A)
n.919-3C>A
 gnomAD v4
8g.100191387C>TCA4827379SPAG1c.833-3C>T (n.833-3C>T)
c.938-3C>T (n.938-3C>T)
c.497-3C>T (n.497-3C>T)
n.919-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191388A>CCA371803254SPAG1c.833-2A>C (n.833-2A>C)
c.938-2A>C (n.938-2A>C)
c.497-2A>C (n.497-2A>C)
n.919-2A>C
8g.100191388A>GCA371803253SPAG1c.833-2A>G (n.833-2A>G)
c.938-2A>G (n.938-2A>G)
c.497-2A>G (n.497-2A>G)
n.919-2A>G
8g.100191388A>TCA371803252SPAG1c.833-2A>T (n.833-2A>T)
c.938-2A>T (n.938-2A>T)
c.497-2A>T (n.497-2A>T)
n.919-2A>T
8g.100191389G>ACA371803255SPAG1c.833-1G>A (n.833-1G>A)
c.938-1G>A (n.938-1G>A)
c.497-1G>A (n.497-1G>A)
n.919-1G>A
 gnomAD v4
8g.100191389G>CCA371803256SPAG1c.833-1G>C (n.833-1G>C)
c.938-1G>C (n.938-1G>C)
c.497-1G>C (n.497-1G>C)
n.919-1G>C
8g.100191389G>TCA371803257SPAG1c.833-1G>T (n.833-1G>T)
c.938-1G>T (n.938-1G>T)
c.497-1G>T (n.497-1G>T)
n.919-1G>T
8g.100191390C>ACA371803258SPAG1c.833C>A (p.Ala278Asp)
c.938C>A (p.Ala313Asp)
c.497C>A (p.Ala166Asp)
n.919C>A
 gnomAD v4
8g.100191390C>GCA371803259SPAG1c.833C>G (p.Ala278Gly)
c.938C>G (p.Ala313Gly)
c.497C>G (p.Ala166Gly)
n.919C>G
8g.100191390C>TCA371803260SPAG1c.833C>T (p.Ala278Val)
c.938C>T (p.Ala313Val)
c.497C>T (p.Ala166Val)
n.919C>T
8g.100191391T>ACA462343846SPAG1c.834T>A (p.Ala278=)
c.939T>A (p.Ala313=)
c.498T>A (p.Ala166=)
n.920T>A
8g.100191391T>CCA462343847SPAG1c.834T>C (p.Ala278=)
c.939T>C (p.Ala313=)
c.498T>C (p.Ala166=)
n.920T>C
8g.100191391T>GCA462343848SPAG1c.834T>G (p.Ala278=)
c.939T>G (p.Ala313=)
c.498T>G (p.Ala166=)
n.920T>G
8g.100191392C>ACA371803261SPAG1c.835C>A (p.Leu279Ile)
c.940C>A (p.Leu314Ile)
c.499C>A (p.Leu167Ile)
n.921C>A
8g.100191392C>GCA371803263SPAG1c.835C>G (p.Leu279Val)
c.940C>G (p.Leu314Val)
c.499C>G (p.Leu167Val)
n.921C>G
8g.100191392C>TCA371803262SPAG1c.835C>T (p.Leu279Phe)
c.940C>T (p.Leu314Phe)
c.499C>T (p.Leu167Phe)
n.921C>T
 COSMIC
8g.100191393T>ACA371803264SPAG1c.836T>A (p.Leu279His)
c.941T>A (p.Leu314His)
c.500T>A (p.Leu167His)
n.922T>A
8g.100191393T>CCA371803265SPAG1c.836T>C (p.Leu279Pro)
c.941T>C (p.Leu314Pro)
c.500T>C (p.Leu167Pro)
n.922T>C
8g.100191393T>GCA371803266SPAG1c.836T>G (p.Leu279Arg)
c.941T>G (p.Leu314Arg)
c.500T>G (p.Leu167Arg)
n.922T>G
8g.100191394T>ACA462343851SPAG1c.837T>A (p.Leu279=)
c.942T>A (p.Leu314=)
c.501T>A (p.Leu167=)
n.923T>A
8g.100191394T>CCA462343852SPAG1c.837T>C (p.Leu279=)
c.942T>C (p.Leu314=)
c.501T>C (p.Leu167=)
n.923T>C
8g.100191394T>GCA462343853SPAG1c.837T>G (p.Leu279=)
c.942T>G (p.Leu314=)
c.501T>G (p.Leu167=)
n.923T>G
8g.100191395C>ACA371803267SPAG1c.838C>A (p.Leu280Met)
c.943C>A (p.Leu315Met)
c.502C>A (p.Leu168Met)
n.924C>A
8g.100191395C>GCA371803268SPAG1c.838C>G (p.Leu280Val)
c.943C>G (p.Leu315Val)
c.502C>G (p.Leu168Val)
n.924C>G
8g.100191395C>TCA462343854SPAG1c.838C>T (p.Leu280=)
c.943C>T (p.Leu315=)
c.502C>T (p.Leu168=)
n.924C>T
8g.100191396T>ACA371803269SPAG1c.839T>A (p.Leu280Gln)
c.944T>A (p.Leu315Gln)
c.503T>A (p.Leu168Gln)
n.925T>A
8g.100191396T>CCA371803270SPAG1c.839T>C (p.Leu280Pro)
c.944T>C (p.Leu315Pro)
c.503T>C (p.Leu168Pro)
n.925T>C
 dbSNP gnomAD v3 gnomAD v4
8g.100191396T>GCA371803271SPAG1c.839T>G (p.Leu280Arg)
c.944T>G (p.Leu315Arg)
c.503T>G (p.Leu168Arg)
n.925T>G
8g.100191397G>ACA462343855SPAG1c.840G>A (p.Leu280=)
c.945G>A (p.Leu315=)
c.504G>A (p.Leu168=)
n.926G>A
8g.100191397G>CCA462343856SPAG1c.840G>C (p.Leu280=)
c.945G>C (p.Leu315=)
c.504G>C (p.Leu168=)
n.926G>C
8g.100191397G>TCA462343857SPAG1c.840G>T (p.Leu280=)
c.945G>T (p.Leu315=)
c.504G>T (p.Leu168=)
n.926G>T
8g.100191398C>ACA371803272SPAG1c.841C>A (p.Arg281Ser)
c.946C>A (p.Arg316Ser)
c.505C>A (p.Arg169Ser)
n.927C>A
 gnomAD v4
8g.100191398C>GCA371803273SPAG1c.841C>G (p.Arg281Gly)
c.946C>G (p.Arg316Gly)
c.505C>G (p.Arg169Gly)
n.927C>G
8g.100191398C>TCA4827380SPAG1c.841C>T (p.Arg281Cys)
c.946C>T (p.Arg316Cys)
c.505C>T (p.Arg169Cys)
n.927C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191399G>ACA4827381SPAG1c.842G>A (p.Arg281His)
c.947G>A (p.Arg316His)
c.506G>A (p.Arg169His)
n.928G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191399G>CCA371803274SPAG1c.842G>C (p.Arg281Pro)
c.947G>C (p.Arg316Pro)
c.506G>C (p.Arg169Pro)
n.928G>C
8g.100191399G>TCA371803275SPAG1c.842G>T (p.Arg281Leu)
c.947G>T (p.Arg316Leu)
c.506G>T (p.Arg169Leu)
n.928G>T
8g.100191400T>ACA462343860SPAG1c.843T>A (p.Arg281=)
c.948T>A (p.Arg316=)
c.507T>A (p.Arg169=)
n.929T>A
8g.100191400T>CCA462343861SPAG1c.843T>C (p.Arg281=)
c.948T>C (p.Arg316=)
c.507T>C (p.Arg169=)
n.929T>C
8g.100191400T>GCA462343862SPAG1c.843T>G (p.Arg281=)
c.948T>G (p.Arg316=)
c.507T>G (p.Arg169=)
n.929T>G
8g.100191401C>ACA371803276SPAG1c.844C>A (p.Arg282Ser)
c.949C>A (p.Arg317Ser)
c.508C>A (p.Arg170Ser)
n.930C>A
8g.100191401C>GCA371803277SPAG1c.844C>G (p.Arg282Gly)
c.949C>G (p.Arg317Gly)
c.508C>G (p.Arg170Gly)
n.930C>G
8g.100191401C>TCA4827382SPAG1c.844C>T (p.Arg282Cys)
c.949C>T (p.Arg317Cys)
c.508C>T (p.Arg170Cys)
n.930C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.100191402G>ACA4827383SPAG1c.845G>A (p.Arg282His)
c.950G>A (p.Arg317His)
c.509G>A (p.Arg170His)
n.931G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.100191402G>CCA371803278SPAG1c.845G>C (p.Arg282Pro)
c.950G>C (p.Arg317Pro)
c.509G>C (p.Arg170Pro)
n.931G>C
8g.100191402G>TCA371803279SPAG1c.845G>T (p.Arg282Leu)
c.950G>T (p.Arg317Leu)
c.509G>T (p.Arg170Leu)
n.931G>T
8g.100191403T>ACA462343864SPAG1c.846T>A (p.Arg282=)
c.951T>A (p.Arg317=)
c.510T>A (p.Arg170=)
n.932T>A
8g.100191403T>CCA462343865SPAG1c.846T>C (p.Arg282=)
c.951T>C (p.Arg317=)
c.510T>C (p.Arg170=)
n.932T>C
8g.100191403T>GCA462343866SPAG1c.846T>G (p.Arg282=)
c.951T>G (p.Arg317=)
c.510T>G (p.Arg170=)
n.932T>G
 gnomAD v4
8g.100191404G>ACA371803280SPAG1c.847G>A (p.Ala283Thr)
c.952G>A (p.Ala318Thr)
c.511G>A (p.Ala171Thr)
n.933G>A
8g.100191404G>CCA371803281SPAG1c.847G>C (p.Ala283Pro)
c.952G>C (p.Ala318Pro)
c.511G>C (p.Ala171Pro)
n.933G>C
8g.100191404G>TCA371803282SPAG1c.847G>T (p.Ala283Ser)
c.952G>T (p.Ala318Ser)
c.511G>T (p.Ala171Ser)
n.933G>T
 COSMIC
8g.100191405C>ACA371803283SPAG1c.848C>A (p.Ala283Asp)
c.953C>A (p.Ala318Asp)
c.512C>A (p.Ala171Asp)
n.934C>A
8g.100191405C>GCA371803284SPAG1c.848C>G (p.Ala283Gly)
c.953C>G (p.Ala318Gly)
c.512C>G (p.Ala171Gly)
n.934C>G
8g.100191405C>TCA371803285SPAG1c.848C>T (p.Ala283Val)
c.953C>T (p.Ala318Val)
c.512C>T (p.Ala171Val)
n.934C>T
8g.100191406T>ACA462343869SPAG1c.849T>A (p.Ala283=)
c.954T>A (p.Ala318=)
c.513T>A (p.Ala171=)
n.935T>A
8g.100191406T>CCA4827384SPAG1c.849T>C (p.Ala283=)
c.954T>C (p.Ala318=)
c.513T>C (p.Ala171=)
n.935T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191406T>GCA462343868SPAG1c.849T>G (p.Ala283=)
c.954T>G (p.Ala318=)
c.513T>G (p.Ala171=)
n.935T>G
8g.100191407A>CCA371803286SPAG1c.850A>C (p.Thr284Pro)
c.955A>C (p.Thr319Pro)
c.514A>C (p.Thr172Pro)
n.936A>C
8g.100191407A>GCA4827385SPAG1c.850A>G (p.Thr284Ala)
c.955A>G (p.Thr319Ala)
c.514A>G (p.Thr172Ala)
n.936A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191407A>TCA371803287SPAG1c.850A>T (p.Thr284Ser)
c.955A>T (p.Thr319Ser)
c.514A>T (p.Thr172Ser)
n.936A>T
8g.100191408C>ACA371803288SPAG1c.851C>A (p.Thr284Asn)
c.956C>A (p.Thr319Asn)
c.515C>A (p.Thr172Asn)
n.937C>A
8g.100191408C>GCA371803290SPAG1c.851C>G (p.Thr284Ser)
c.956C>G (p.Thr319Ser)
c.515C>G (p.Thr172Ser)
n.937C>G
8g.100191408C>TCA371803289SPAG1c.851C>T (p.Thr284Ile)
c.956C>T (p.Thr319Ile)
c.515C>T (p.Thr172Ile)
n.937C>T
 ClinVar
8g.100191409T>ACA462343871SPAG1c.852T>A (p.Thr284=)
c.957T>A (p.Thr319=)
c.516T>A (p.Thr172=)
n.938T>A
8g.100191409T>CCA462343872SPAG1c.852T>C (p.Thr284=)
c.957T>C (p.Thr319=)
c.516T>C (p.Thr172=)
n.938T>C
 dbSNP gnomAD v4
8g.100191409T>GCA462343873SPAG1c.852T>G (p.Thr284=)
c.957T>G (p.Thr319=)
c.516T>G (p.Thr172=)
n.938T>G
8g.100191410A>CCA371803291SPAG1c.853A>C (p.Thr285Pro)
c.958A>C (p.Thr320Pro)
c.517A>C (p.Thr173Pro)
n.939A>C
8g.100191410A>GCA371803292SPAG1c.853A>G (p.Thr285Ala)
c.958A>G (p.Thr320Ala)
c.517A>G (p.Thr173Ala)
n.939A>G
 gnomAD v4 COSMIC
8g.100191410A>TCA371803293SPAG1c.853A>T (p.Thr285Ser)
c.958A>T (p.Thr320Ser)
c.517A>T (p.Thr173Ser)
n.939A>T
8g.100191411C>ACA371803294SPAG1c.854C>A (p.Thr285Lys)
c.959C>A (p.Thr320Lys)
c.518C>A (p.Thr173Lys)
n.940C>A
8g.100191411C>GCA371803295SPAG1c.854C>G (p.Thr285Arg)
c.959C>G (p.Thr320Arg)
c.518C>G (p.Thr173Arg)
n.940C>G
8g.100191411C>TCA371803296SPAG1c.854C>T (p.Thr285Ile)
c.959C>T (p.Thr320Ile)
c.518C>T (p.Thr173Ile)
n.940C>T
 gnomAD v4
8g.100191412A>CCA462343877SPAG1c.855A>C (p.Thr285=)
c.960A>C (p.Thr320=)
c.519A>C (p.Thr173=)
n.941A>C
8g.100191412A>GCA462343878SPAG1c.855A>G (p.Thr285=)
c.960A>G (p.Thr320=)
c.519A>G (p.Thr173=)
n.941A>G
 gnomAD v4
8g.100191412A>TCA4827386SPAG1c.855A>T (p.Thr285=)
c.960A>T (p.Thr320=)
c.519A>T (p.Thr173=)
n.941A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191413T>ACA371803297SPAG1c.856T>A (p.Tyr286Asn)
c.961T>A (p.Tyr321Asn)
c.520T>A (p.Tyr174Asn)
n.942T>A
8g.100191413T>CCA4827387SPAG1c.856T>C (p.Tyr286His)
c.961T>C (p.Tyr321His)
c.520T>C (p.Tyr174His)
n.942T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191413T>GCA371803298SPAG1c.856T>G (p.Tyr286Asp)
c.961T>G (p.Tyr321Asp)
c.520T>G (p.Tyr174Asp)
n.942T>G
8g.100191414delCA2497235382SPAG1c.857del (p.Tyr286LeufsTer14)
c.962del (p.Tyr321LeufsTer14)
c.521del (p.Tyr174LeufsTer14)
n.943del
 dbSNP
8g.100191414A>CCA371803301SPAG1c.857A>C (p.Tyr286Ser)
c.962A>C (p.Tyr321Ser)
c.521A>C (p.Tyr174Ser)
n.943A>C
8g.100191414A>GCA371803300SPAG1c.857A>G (p.Tyr286Cys)
c.962A>G (p.Tyr321Cys)
c.521A>G (p.Tyr174Cys)
n.943A>G
8g.100191414A>TCA371803299SPAG1c.857A>T (p.Tyr286Phe)
c.962A>T (p.Tyr321Phe)
c.521A>T (p.Tyr174Phe)
n.943A>T
8g.100191415T>ACA371803303SPAG1c.858T>A (p.Tyr286Ter)
c.963T>A (p.Tyr321Ter)
c.522T>A (p.Tyr174Ter)
n.944T>A
8g.100191415T>CCA462343879SPAG1c.858T>C (p.Tyr286=)
c.963T>C (p.Tyr321=)
c.522T>C (p.Tyr174=)
n.944T>C
8g.100191415T>GCA371803302SPAG1c.858T>G (p.Tyr286Ter)
c.963T>G (p.Tyr321Ter)
c.522T>G (p.Tyr174Ter)
n.944T>G
8g.100191416A>CCA371803304SPAG1c.859A>C (p.Lys287Gln)
c.964A>C (p.Lys322Gln)
c.523A>C (p.Lys175Gln)
n.945A>C
8g.100191416A>GCA371803305SPAG1c.859A>G (p.Lys287Glu)
c.964A>G (p.Lys322Glu)
c.523A>G (p.Lys175Glu)
n.945A>G
 dbSNP
8g.100191416A>TCA371803306SPAG1c.859A>T (p.Lys287Ter)
c.964A>T (p.Lys322Ter)
c.523A>T (p.Lys175Ter)
n.945A>T
8g.100191417A>CCA371803307SPAG1c.860A>C (p.Lys287Thr)
c.965A>C (p.Lys322Thr)
c.524A>C (p.Lys175Thr)
n.946A>C
8g.100191417A>GCA371803308SPAG1c.860A>G (p.Lys287Arg)
c.965A>G (p.Lys322Arg)
c.524A>G (p.Lys175Arg)
n.946A>G
8g.100191417A>TCA371803309SPAG1c.860A>T (p.Lys287Ile)
c.965A>T (p.Lys322Ile)
c.524A>T (p.Lys175Ile)
n.946A>T
8g.100191418A>CCA371803310SPAG1c.861A>C (p.Lys287Asn)
c.966A>C (p.Lys322Asn)
c.525A>C (p.Lys175Asn)
n.947A>C
8g.100191418A>GCA462343880SPAG1c.861A>G (p.Lys287=)
c.966A>G (p.Lys322=)
c.525A>G (p.Lys175=)
n.947A>G
8g.100191418A>TCA371803311SPAG1c.861A>T (p.Lys287Asn)
c.966A>T (p.Lys322Asn)
c.525A>T (p.Lys175Asn)
n.947A>T
8g.100191419C>ACA371803312SPAG1c.862C>A (p.His288Asn)
c.967C>A (p.His323Asn)
c.526C>A (p.His176Asn)
n.948C>A
8g.100191419C>GCA371803313SPAG1c.862C>G (p.His288Asp)
c.967C>G (p.His323Asp)
c.526C>G (p.His176Asp)
n.948C>G
8g.100191419C>TCA371803314SPAG1c.862C>T (p.His288Tyr)
c.967C>T (p.His323Tyr)
c.526C>T (p.His176Tyr)
n.948C>T
 gnomAD v4
8g.100191420A>CCA371803317SPAG1c.863A>C (p.His288Pro)
c.968A>C (p.His323Pro)
c.527A>C (p.His176Pro)
n.949A>C
8g.100191420A>GCA371803316SPAG1c.863A>G (p.His288Arg)
c.968A>G (p.His323Arg)
c.527A>G (p.His176Arg)
n.949A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100191420A>TCA371803315SPAG1c.863A>T (p.His288Leu)
c.968A>T (p.His323Leu)
c.527A>T (p.His176Leu)
n.949A>T
8g.100191421T>ACA371803318SPAG1c.864T>A (p.His288Gln)
c.969T>A (p.His323Gln)
c.528T>A (p.His176Gln)
n.950T>A
8g.100191421T>CCA462343881SPAG1c.864T>C (p.His288=)
c.969T>C (p.His323=)
c.528T>C (p.His176=)
n.950T>C
8g.100191421T>GCA371803319SPAG1c.864T>G (p.His288Gln)
c.969T>G (p.His323Gln)
c.528T>G (p.His176Gln)
n.950T>G
8g.100191422C>ACA371803320SPAG1c.865C>A (p.Gln289Lys)
c.970C>A (p.Gln324Lys)
c.529C>A (p.Gln177Lys)
n.951C>A
8g.100191422C>GCA371803321SPAG1c.865C>G (p.Gln289Glu)
c.970C>G (p.Gln324Glu)
c.529C>G (p.Gln177Glu)
n.951C>G
8g.100191422C>TCA371803322SPAG1c.865C>T (p.Gln289Ter)
c.970C>T (p.Gln324Ter)
c.529C>T (p.Gln177Ter)
n.951C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100191423A>CCA371803323SPAG1c.866A>C (p.Gln289Pro)
c.971A>C (p.Gln324Pro)
c.530A>C (p.Gln177Pro)
n.952A>C
 gnomAD v4
8g.100191423A>GCA371803324SPAG1c.866A>G (p.Gln289Arg)
c.971A>G (p.Gln324Arg)
c.530A>G (p.Gln177Arg)
n.952A>G
8g.100191423A>TCA371803325SPAG1c.866A>T (p.Gln289Leu)
c.971A>T (p.Gln324Leu)
c.530A>T (p.Gln177Leu)
n.952A>T
8g.100191424A>CCA371803326SPAG1c.867A>C (p.Gln289His)
c.972A>C (p.Gln324His)
c.531A>C (p.Gln177His)
n.953A>C
8g.100191424A>GCA462343882SPAG1c.867A>G (p.Gln289=)
c.972A>G (p.Gln324=)
c.531A>G (p.Gln177=)
n.953A>G
8g.100191424A>TCA371803327SPAG1c.867A>T (p.Gln289His)
c.972A>T (p.Gln324His)
c.531A>T (p.Gln177His)
n.953A>T
8g.100191425A>CCA371803328SPAG1c.868A>C (p.Asn290His)
c.973A>C (p.Asn325His)
c.532A>C (p.Asn178His)
n.954A>C
8g.100191425A>GCA182368304SPAG1c.868A>G (p.Asn290Asp)
c.973A>G (p.Asn325Asp)
c.532A>G (p.Asn178Asp)
n.954A>G
 dbSNP
8g.100191425A>TCA371803329SPAG1c.868A>T (p.Asn290Tyr)
c.973A>T (p.Asn325Tyr)
c.532A>T (p.Asn178Tyr)
n.954A>T
8g.100191426A>CCA371803333SPAG1c.869A>C (p.Asn290Thr)
c.974A>C (p.Asn325Thr)
c.533A>C (p.Asn178Thr)
n.955A>C
8g.100191426A>GCA371803335SPAG1c.869A>G (p.Asn290Ser)
c.974A>G (p.Asn325Ser)
c.533A>G (p.Asn178Ser)
n.955A>G
 gnomAD v4
8g.100191426A>TCA371803331SPAG1c.869A>T (p.Asn290Ile)
c.974A>T (p.Asn325Ile)
c.533A>T (p.Asn178Ile)
n.955A>T
8g.100191427C>ACA371803336SPAG1c.870C>A (p.Asn290Lys)
c.975C>A (p.Asn325Lys)
c.534C>A (p.Asn178Lys)
n.956C>A
8g.100191427C>GCA371803338SPAG1c.870C>G (p.Asn290Lys)
c.975C>G (p.Asn325Lys)
c.534C>G (p.Asn178Lys)
n.956C>G
 gnomAD v4
8g.100191427C>TCA462343883SPAG1c.870C>T (p.Asn290=)
c.975C>T (p.Asn325=)
c.534C>T (p.Asn178=)
n.956C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.100191428A>CCA371803340SPAG1c.871A>C (p.Lys291Gln)
c.976A>C (p.Lys326Gln)
c.535A>C (p.Lys179Gln)
n.957A>C
8g.100191428A>GCA371803342SPAG1c.871A>G (p.Lys291Glu)
c.976A>G (p.Lys326Glu)
c.535A>G (p.Lys179Glu)
n.957A>G
8g.100191428A>TCA182368310SPAG1c.871A>T (p.Lys291Ter)
c.976A>T (p.Lys326Ter)
c.535A>T (p.Lys179Ter)
n.957A>T
 dbSNP gnomAD v3 gnomAD v4
8g.100191429A>CCA371803344SPAG1c.872A>C (p.Lys291Thr)
c.977A>C (p.Lys326Thr)
c.536A>C (p.Lys179Thr)
n.958A>C
8g.100191429A>GCA371803345SPAG1c.872A>G (p.Lys291Arg)
c.977A>G (p.Lys326Arg)
c.536A>G (p.Lys179Arg)
n.958A>G
8g.100191429A>TCA371803347SPAG1c.872A>T (p.Lys291Met)
c.977A>T (p.Lys326Met)
c.536A>T (p.Lys179Met)
n.958A>T
8g.100191430G>ACA462343884SPAG1c.873G>A (p.Lys291=)
c.978G>A (p.Lys326=)
c.537G>A (p.Lys179=)
n.959G>A
 dbSNP
8g.100191430G>CCA371803349SPAG1c.873G>C (p.Lys291Asn)
c.978G>C (p.Lys326Asn)
c.537G>C (p.Lys179Asn)
n.959G>C
8g.100191430G>TCA371803351SPAG1c.873G>T (p.Lys291Asn)
c.978G>T (p.Lys326Asn)
c.537G>T (p.Lys179Asn)
n.959G>T
8g.100191431C>ACA371803353SPAG1c.874C>A (p.Leu292Ile)
c.979C>A (p.Leu327Ile)
c.538C>A (p.Leu180Ile)
n.960C>A
8g.100191431C>GCA371803355SPAG1c.874C>G (p.Leu292Val)
c.979C>G (p.Leu327Val)
c.538C>G (p.Leu180Val)
n.960C>G
8g.100191431C>TCA371803357SPAG1c.874C>T (p.Leu292Phe)
c.979C>T (p.Leu327Phe)
c.538C>T (p.Leu180Phe)
n.960C>T
8g.100191432T>ACA371803363SPAG1c.875T>A (p.Leu292His)
c.980T>A (p.Leu327His)
c.539T>A (p.Leu180His)
n.961T>A
8g.100191432T>CCA371803361SPAG1c.875T>C (p.Leu292Pro)
c.980T>C (p.Leu327Pro)
c.539T>C (p.Leu180Pro)
n.961T>C
8g.100191432T>GCA371803359SPAG1c.875T>G (p.Leu292Arg)
c.980T>G (p.Leu327Arg)
c.539T>G (p.Leu180Arg)
n.961T>G
8g.100191433C>ACA462343886SPAG1c.876C>A (p.Leu292=)
c.981C>A (p.Leu327=)
c.540C>A (p.Leu180=)
n.962C>A
8g.100191433C>GCA462343887SPAG1c.876C>G (p.Leu292=)
c.981C>G (p.Leu327=)
c.540C>G (p.Leu180=)
n.962C>G
8g.100191433C>TCA462343885SPAG1c.876C>T (p.Leu292=)
c.981C>T (p.Leu327=)
c.540C>T (p.Leu180=)
n.962C>T
 ClinVar dbSNP gnomAD v4
8g.100191434C>ACA462343888SPAG1c.877C>A (p.Arg293=)
c.982C>A (p.Arg328=)
c.541C>A (p.Arg181=)
n.963C>A
8g.100191434C>GCA371803366SPAG1c.877C>G (p.Arg293Gly)
c.982C>G (p.Arg328Gly)
c.541C>G (p.Arg181Gly)
n.963C>G
8g.100191434C>TCA4827388SPAG1c.877C>T (p.Arg293Trp)
c.982C>T (p.Arg328Trp)
c.541C>T (p.Arg181Trp)
n.963C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191435G>ACA4827389SPAG1c.878G>A (p.Arg293Gln)
c.983G>A (p.Arg328Gln)
c.542G>A (p.Arg181Gln)
n.964G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.100191435G>CCA371803369SPAG1c.878G>C (p.Arg293Pro)
c.983G>C (p.Arg328Pro)
c.542G>C (p.Arg181Pro)
n.964G>C
8g.100191435G>TCA371803371SPAG1c.878G>T (p.Arg293Leu)
c.983G>T (p.Arg328Leu)
c.542G>T (p.Arg181Leu)
n.964G>T
 dbSNP
8g.100191436G>ACA462343891SPAG1c.879G>A (p.Arg293=)
c.984G>A (p.Arg328=)
c.543G>A (p.Arg181=)
n.965G>A
 dbSNP gnomAD v4
8g.100191436G>CCA462343890SPAG1c.879G>C (p.Arg293=)
c.984G>C (p.Arg328=)
c.543G>C (p.Arg181=)
n.965G>C
8g.100191436G>TCA462343889SPAG1c.879G>T (p.Arg293=)
c.984G>T (p.Arg328=)
c.543G>T (p.Arg181=)
n.965G>T
 gnomAD v4
8g.100191437G>ACA371803373SPAG1c.880G>A (p.Glu294Lys)
c.985G>A (p.Glu329Lys)
c.544G>A (p.Glu182Lys)
n.966G>A
8g.100191437G>CCA371803375SPAG1c.880G>C (p.Glu294Gln)
c.985G>C (p.Glu329Gln)
c.544G>C (p.Glu182Gln)
n.966G>C
8g.100191437G>TCA371803377SPAG1c.880G>T (p.Glu294Ter)
c.985G>T (p.Glu329Ter)
c.544G>T (p.Glu182Ter)
n.966G>T
8g.100191438A>CCA371803379SPAG1c.881A>C (p.Glu294Ala)
c.986A>C (p.Glu329Ala)
c.545A>C (p.Glu182Ala)
n.967A>C
8g.100191438A>GCA371803381SPAG1c.881A>G (p.Glu294Gly)
c.986A>G (p.Glu329Gly)
c.545A>G (p.Glu182Gly)
n.967A>G
 dbSNP gnomAD v2 gnomAD v4
8g.100191438A>TCA371803383SPAG1c.881A>T (p.Glu294Val)
c.986A>T (p.Glu329Val)
c.545A>T (p.Glu182Val)
n.967A>T
8g.100191439A>CCA371803385SPAG1c.882A>C (p.Glu294Asp)
c.987A>C (p.Glu329Asp)
c.546A>C (p.Glu182Asp)
n.968A>C
8g.100191439A>GCA462343892SPAG1c.882A>G (p.Glu294=)
c.987A>G (p.Glu329=)
c.546A>G (p.Glu182=)
n.968A>G
 gnomAD v4
8g.100191439A>TCA371803387SPAG1c.882A>T (p.Glu294Asp)
c.987A>T (p.Glu329Asp)
c.546A>T (p.Glu182Asp)
n.968A>T
8g.100191440G>ACA371803392SPAG1c.883G>A (p.Ala295Thr)
c.988G>A (p.Ala330Thr)
c.547G>A (p.Ala183Thr)
n.969G>A
 COSMIC
8g.100191440G>CCA371803390SPAG1c.883G>C (p.Ala295Pro)
c.988G>C (p.Ala330Pro)
c.547G>C (p.Ala183Pro)
n.969G>C
8g.100191440G>TCA371803389SPAG1c.883G>T (p.Ala295Ser)
c.988G>T (p.Ala330Ser)
c.547G>T (p.Ala183Ser)
n.969G>T
8g.100191441C>ACA371803397SPAG1c.884C>A (p.Ala295Asp)
c.989C>A (p.Ala330Asp)
c.548C>A (p.Ala183Asp)
n.970C>A
8g.100191441C>GCA371803395SPAG1c.884C>G (p.Ala295Gly)
c.989C>G (p.Ala330Gly)
c.548C>G (p.Ala183Gly)
n.970C>G
8g.100191441C>TCA4827390SPAG1c.884C>T (p.Ala295Val)
c.989C>T (p.Ala330Val)
c.548C>T (p.Ala183Val)
n.970C>T
 dbSNP ExAC gnomAD v2
8g.100191442T>ACA462343893SPAG1c.885T>A (p.Ala295=)
c.990T>A (p.Ala330=)
c.549T>A (p.Ala183=)
n.971T>A
8g.100191442T>CCA462343894SPAG1c.885T>C (p.Ala295=)
c.990T>C (p.Ala330=)
c.549T>C (p.Ala183=)
n.971T>C
8g.100191442T>GCA462343895SPAG1c.885T>G (p.Ala295=)
c.990T>G (p.Ala330=)
c.549T>G (p.Ala183=)
n.971T>G
8g.100191443A>CCA371803400SPAG1c.886A>C (p.Thr296Pro)
c.991A>C (p.Thr331Pro)
c.550A>C (p.Thr184Pro)
n.972A>C
8g.100191443A>GCA371803402SPAG1c.886A>G (p.Thr296Ala)
c.991A>G (p.Thr331Ala)
c.550A>G (p.Thr184Ala)
n.972A>G
 gnomAD v4
8g.100191443A>TCA371803404SPAG1c.886A>T (p.Thr296Ser)
c.991A>T (p.Thr331Ser)
c.550A>T (p.Thr184Ser)
n.972A>T
8g.100191444C>ACA371803406SPAG1c.887C>A (p.Thr296Lys)
c.992C>A (p.Thr331Lys)
c.551C>A (p.Thr184Lys)
n.973C>A
8g.100191444C>GCA371803408SPAG1c.887C>G (p.Thr296Arg)
c.992C>G (p.Thr331Arg)
c.551C>G (p.Thr184Arg)
n.973C>G
8g.100191444C>TCA371803409SPAG1c.887C>T (p.Thr296Ile)
c.992C>T (p.Thr331Ile)
c.551C>T (p.Thr184Ile)
n.973C>T
 dbSNP
8g.100191445A>CCA462343896SPAG1c.888A>C (p.Thr296=)
c.993A>C (p.Thr331=)
c.552A>C (p.Thr184=)
n.974A>C
8g.100191445A>GCA462343897SPAG1c.888A>G (p.Thr296=)
c.993A>G (p.Thr331=)
c.552A>G (p.Thr184=)
n.974A>G
 gnomAD v4
8g.100191445A>TCA462343898SPAG1c.888A>T (p.Thr296=)
c.993A>T (p.Thr331=)
c.552A>T (p.Thr184=)
n.974A>T
8g.100191448_100191450delCA2688091529SPAG1c.891_893del (p.Glu297del)
c.996_998del (p.Glu332del)
c.555_557del (p.Glu185del)
n.977_979del
 gnomAD v4
8g.100191446G>ACA371803411SPAG1c.889G>A (p.Glu297Lys)
c.994G>A (p.Glu332Lys)
c.553G>A (p.Glu185Lys)
n.975G>A
8g.100191446G>CCA371803412SPAG1c.889G>C (p.Glu297Gln)
c.994G>C (p.Glu332Gln)
c.553G>C (p.Glu185Gln)
n.975G>C
 dbSNP
8g.100191446G>TCA371803414SPAG1c.889G>T (p.Glu297Ter)
c.994G>T (p.Glu332Ter)
c.553G>T (p.Glu185Ter)
n.975G>T
8g.100191447A>CCA371803415SPAG1c.890A>C (p.Glu297Ala)
c.995A>C (p.Glu332Ala)
c.554A>C (p.Glu185Ala)
n.976A>C
8g.100191447A>GCA4827391SPAG1c.890A>G (p.Glu297Gly)
c.995A>G (p.Glu332Gly)
c.554A>G (p.Glu185Gly)
n.976A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191447A>TCA371803418SPAG1c.890A>T (p.Glu297Val)
c.995A>T (p.Glu332Val)
c.554A>T (p.Glu185Val)
n.976A>T
8g.100191448A>CCA371803420SPAG1c.891A>C (p.Glu297Asp)
c.996A>C (p.Glu332Asp)
c.555A>C (p.Glu185Asp)
n.977A>C
8g.100191448A>GCA462343899SPAG1c.891A>G (p.Glu297=)
c.996A>G (p.Glu332=)
c.555A>G (p.Glu185=)
n.977A>G
8g.100191448A>TCA371803421SPAG1c.891A>T (p.Glu297Asp)
c.996A>T (p.Glu332Asp)
c.555A>T (p.Glu185Asp)
n.977A>T
8g.100191449G>ACA371803422SPAG1c.892G>A (p.Asp298Asn)
c.997G>A (p.Asp333Asn)
c.556G>A (p.Asp186Asn)
n.978G>A
8g.100191449G>CCA371803423SPAG1c.892G>C (p.Asp298His)
c.997G>C (p.Asp333His)
c.556G>C (p.Asp186His)
n.978G>C
8g.100191449G>TCA371803424SPAG1c.892G>T (p.Asp298Tyr)
c.997G>T (p.Asp333Tyr)
c.556G>T (p.Asp186Tyr)
n.978G>T
 gnomAD v4
8g.100191450A>CCA371803426SPAG1c.893A>C (p.Asp298Ala)
c.998A>C (p.Asp333Ala)
c.557A>C (p.Asp186Ala)
n.979A>C
8g.100191450A>GCA371803427SPAG1c.893A>G (p.Asp298Gly)
c.998A>G (p.Asp333Gly)
c.557A>G (p.Asp186Gly)
n.979A>G
8g.100191450A>TCA371803428SPAG1c.893A>T (p.Asp298Val)
c.998A>T (p.Asp333Val)
c.557A>T (p.Asp186Val)
n.979A>T
8g.100191451T>ACA371803430SPAG1c.894T>A (p.Asp298Glu)
c.999T>A (p.Asp333Glu)
c.558T>A (p.Asp186Glu)
n.980T>A
8g.100191451T>CCA462343900SPAG1c.894T>C (p.Asp298=)
c.999T>C (p.Asp333=)
c.558T>C (p.Asp186=)
n.980T>C
8g.100191451T>GCA371803432SPAG1c.894T>G (p.Asp298Glu)
c.999T>G (p.Asp333Glu)
c.558T>G (p.Asp186Glu)
n.980T>G
8g.100191452T>ACA371803433SPAG1c.895T>A (p.Leu299Met)
c.1000T>A (p.Leu334Met)
c.559T>A (p.Leu187Met)
n.981T>A
8g.100191452T>CCA462343901SPAG1c.895T>C (p.Leu299=)
c.1000T>C (p.Leu334=)
c.559T>C (p.Leu187=)
n.981T>C
8g.100191452T>GCA371803435SPAG1c.895T>G (p.Leu299Val)
c.1000T>G (p.Leu334Val)
c.559T>G (p.Leu187Val)
n.981T>G
8g.100191453T>ACA371803437SPAG1c.896T>A (p.Leu299Ter)
c.1001T>A (p.Leu334Ter)
c.560T>A (p.Leu187Ter)
n.982T>A
8g.100191453T>CCA371803439SPAG1c.896T>C (p.Leu299Ser)
c.1001T>C (p.Leu334Ser)
c.560T>C (p.Leu187Ser)
n.982T>C
8g.100191453T>GCA371803441SPAG1c.896T>G (p.Leu299Trp)
c.1001T>G (p.Leu334Trp)
c.560T>G (p.Leu187Trp)
n.982T>G
8g.100191454G>ACA462343902SPAG1c.897G>A (p.Leu299=)
c.1002G>A (p.Leu334=)
c.561G>A (p.Leu187=)
n.983G>A
8g.100191454G>CCA4827393SPAG1c.897G>C (p.Leu299Phe)
c.1002G>C (p.Leu334Phe)
c.561G>C (p.Leu187Phe)
n.983G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191454G>TCA371803455SPAG1c.897G>T (p.Leu299Phe)
c.1002G>T (p.Leu334Phe)
c.561G>T (p.Leu187Phe)
n.983G>T
8g.100191454_100191458delCA4827392SPAG1c.897_901del (p.Lys301ThrfsTer4)
c.1002_1006del (p.Lys336ThrfsTer4)
c.561_565del (p.Lys189ThrfsTer4)
n.983_987del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191455A>CCA4827394SPAG1c.898A>C (p.Ser300Arg)
c.1003A>C (p.Ser335Arg)
c.562A>C (p.Ser188Arg)
n.984A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191455A>GCA371803464SPAG1c.898A>G (p.Ser300Gly)
c.1003A>G (p.Ser335Gly)
c.562A>G (p.Ser188Gly)
n.984A>G
8g.100191455A>TCA371803462SPAG1c.898A>T (p.Ser300Cys)
c.1003A>T (p.Ser335Cys)
c.562A>T (p.Ser188Cys)
n.984A>T
8g.100191459_100191463delCA346949SPAG1c.902_906del (p.Lys301ThrfsTer4)
c.1007_1011del (p.Lys336ThrfsTer4)
c.566_570del (p.Lys189ThrfsTer4)
n.988_992del
 ClinVar dbSNP
8g.100191456G>ACA4827395SPAG1c.899G>A (p.Ser300Asn)
c.1004G>A (p.Ser335Asn)
c.563G>A (p.Ser188Asn)
n.985G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.100191456G>CCA371803465SPAG1c.899G>C (p.Ser300Thr)
c.1004G>C (p.Ser335Thr)
c.563G>C (p.Ser188Thr)
n.985G>C
8g.100191456G>TCA371803466SPAG1c.899G>T (p.Ser300Ile)
c.1004G>T (p.Ser335Ile)
c.563G>T (p.Ser188Ile)
n.985G>T
8g.100191457T>ACA371803469SPAG1c.900T>A (p.Ser300Arg)
c.1005T>A (p.Ser335Arg)
c.564T>A (p.Ser188Arg)
n.986T>A
8g.100191457T>CCA462343903SPAG1c.900T>C (p.Ser300=)
c.1005T>C (p.Ser335=)
c.564T>C (p.Ser188=)
n.986T>C
8g.100191457T>GCA371803470SPAG1c.900T>G (p.Ser300Arg)
c.1005T>G (p.Ser335Arg)
c.564T>G (p.Ser188Arg)
n.986T>G
8g.100191458A>CCA371803472SPAG1c.901A>C (p.Lys301Gln)
c.1006A>C (p.Lys336Gln)
c.565A>C (p.Lys189Gln)
n.987A>C
8g.100191458A>GCA371803474SPAG1c.901A>G (p.Lys301Glu)
c.1006A>G (p.Lys336Glu)
c.565A>G (p.Lys189Glu)
n.987A>G
8g.100191458A>TCA371803476SPAG1c.901A>T (p.Lys301Ter)
c.1006A>T (p.Lys336Ter)
c.565A>T (p.Lys189Ter)
n.987A>T
8g.100191458_100191460dupCA583868086SPAG1c.901_903dup (p.Lys301_Val302insLys)
c.1006_1008dup (p.Lys336_Val337insLys)
c.565_567dup (p.Lys189_Val190insLys)
n.987_989dup
 dbSNP gnomAD v2
8g.100191459A>CCA371803478SPAG1c.902A>C (p.Lys301Thr)
c.1007A>C (p.Lys336Thr)
c.566A>C (p.Lys189Thr)
n.988A>C
8g.100191459A>GCA4827396SPAG1c.902A>G (p.Lys301Arg)
c.1007A>G (p.Lys336Arg)
c.566A>G (p.Lys189Arg)
n.988A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.100191459A>TCA371803480SPAG1c.902A>T (p.Lys301Ile)
c.1007A>T (p.Lys336Ile)
c.566A>T (p.Lys189Ile)
n.988A>T

Number of alleles fetched