Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.158612568_158612718delCA2746290216SPTA1c.7134+109_7134+259del (n.7134+109_7134+259del)
c.7116+109_7116+259del (n.7116+109_7116+259del)
1g.158612602_158612643delCA2648555416SPTA1c.7134+180_7134+221del (n.7134+180_7134+221del)
c.7116+180_7116+221del (n.7116+180_7116+221del)
gnomAD v4
1g.158612627C>ACA2648555467SPTA1c.7134+190G>T (n.7134+190G>T)
c.7116+190G>T (n.7116+190G>T)
gnomAD v4
1g.158612627C=CA1201536811SPTA1c.7134+190G= (n.7134+190G=)
c.7116+190G= (n.7116+190G=)
1g.158612627C>GCA2648555468SPTA1c.7134+190G>C (n.7134+190G>C)
c.7116+190G>C (n.7116+190G>C)
gnomAD v4
1g.158612627C>TCA889965536SPTA1c.7134+190G>A (n.7134+190G>A)
c.7116+190G>A (n.7116+190G>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612628C>ACA2648555469SPTA1c.7134+189G>T (n.7134+189G>T)
c.7116+189G>T (n.7116+189G>T)
gnomAD v4
1g.158612628C>GCA2648555470SPTA1c.7134+189G>C (n.7134+189G>C)
c.7116+189G>C (n.7116+189G>C)
gnomAD v4
1g.158612628C>TCA2648555471SPTA1c.7134+189G>A (n.7134+189G>A)
c.7116+189G>A (n.7116+189G>A)
gnomAD v4
1g.158612629A=CA1145068888SPTA1c.7134+188T= (n.7134+188T=)
c.7116+188T= (n.7116+188T=)
1g.158612629A>CCA31250382SPTA1c.7134+188T>G (n.7134+188T>G)
c.7116+188T>G (n.7116+188T>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612629A>GCA2648555472SPTA1c.7134+188T>C (n.7134+188T>C)
c.7116+188T>C (n.7116+188T>C)
gnomAD v4
1g.158612629A>TCA2648555473SPTA1c.7134+188T>A (n.7134+188T>A)
c.7116+188T>A (n.7116+188T>A)
gnomAD v4
1g.158612630C>ACA2648555474SPTA1c.7134+187G>T (n.7134+187G>T)
c.7116+187G>T (n.7116+187G>T)
gnomAD v4
1g.158612630C=CA1144532704SPTA1c.7134+187G= (n.7134+187G=)
c.7116+187G= (n.7116+187G=)
1g.158612630C>GCA2648555475SPTA1c.7134+187G>C (n.7134+187G>C)
c.7116+187G>C (n.7116+187G>C)
gnomAD v4
1g.158612630C>TCA31250387SPTA1c.7134+187G>A (n.7134+187G>A)
c.7116+187G>A (n.7116+187G>A)
dbSNP gnomAD v4
1g.158612631A=CA1201536812SPTA1c.7134+186T= (n.7134+186T=)
c.7116+186T= (n.7116+186T=)
1g.158612631A>CCA2648555477SPTA1c.7134+186T>G (n.7134+186T>G)
c.7116+186T>G (n.7116+186T>G)
gnomAD v4
1g.158612631A>GCA889965538SPTA1c.7134+186T>C (n.7134+186T>C)
c.7116+186T>C (n.7116+186T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612631A>TCA2648555476SPTA1c.7134+186T>A (n.7134+186T>A)
c.7116+186T>A (n.7116+186T>A)
gnomAD v4
1g.158612632G>ACA2648555478SPTA1c.7134+185C>T (n.7134+185C>T)
c.7116+185C>T (n.7116+185C>T)
gnomAD v4
1g.158612632G=CA1201536813SPTA1c.7134+185C= (n.7134+185C=)
c.7116+185C= (n.7116+185C=)
1g.158612632G>TCA889965542SPTA1c.7134+185C>A (n.7134+185C>A)
c.7116+185C>A (n.7116+185C>A)
dbSNP gnomAD v3 gnomAD v4
1g.158612633T>ACA2648555479SPTA1c.7134+184A>T (n.7134+184A>T)
c.7116+184A>T (n.7116+184A>T)
gnomAD v4
1g.158612633T>CCA889965544SPTA1c.7134+184A>G (n.7134+184A>G)
c.7116+184A>G (n.7116+184A>G)
dbSNP
1g.158612633T=CA1201536814SPTA1c.7134+184A= (n.7134+184A=)
c.7116+184A= (n.7116+184A=)
1g.158612634A>GCA2648555480SPTA1c.7134+183T>C (n.7134+183T>C)
c.7116+183T>C (n.7116+183T>C)
gnomAD v4
1g.158612634A>TCA2648555481SPTA1c.7134+183T>A (n.7134+183T>A)
c.7116+183T>A (n.7116+183T>A)
gnomAD v4
1g.158612635C>ACA1201536816SPTA1c.7134+182G>T (n.7134+182G>T)
c.7116+182G>T (n.7116+182G>T)
dbSNP gnomAD v4
1g.158612635C=CA1201536815SPTA1c.7134+182G= (n.7134+182G=)
c.7116+182G= (n.7116+182G=)
1g.158612635C>TCA1201536817SPTA1c.7134+182G>A (n.7134+182G>A)
c.7116+182G>A (n.7116+182G>A)
dbSNP gnomAD v4
1g.158612635_158612636insACA2648555482SPTA1c.7134+181_7134+182insT (n.7134+181_7134+182insT)
c.7116+181_7116+182insT (n.7116+181_7116+182insT)
gnomAD v4
1g.158612636G>ACA16067732SPTA1c.7134+181C>T (n.7134+181C>T)
c.7116+181C>T (n.7116+181C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612636G=CA1139943757SPTA1c.7134+181C= (n.7134+181C=)
c.7116+181C= (n.7116+181C=)
1g.158612636G>TCA2648555483SPTA1c.7134+181C>A (n.7134+181C>A)
c.7116+181C>A (n.7116+181C>A)
gnomAD v4
1g.158612637T>ACA2648555484SPTA1c.7134+180A>T (n.7134+180A>T)
c.7116+180A>T (n.7116+180A>T)
gnomAD v4
1g.158612638T>ACA2648555485SPTA1c.7134+179A>T (n.7134+179A>T)
c.7116+179A>T (n.7116+179A>T)
gnomAD v4
1g.158612639T>GCA2648555486SPTA1c.7134+178A>C (n.7134+178A>C)
c.7116+178A>C (n.7116+178A>C)
gnomAD v4
1g.158612640T>CCA2648555487SPTA1c.7134+177A>G (n.7134+177A>G)
c.7116+177A>G (n.7116+177A>G)
gnomAD v4
1g.158612641T>CCA2648555488SPTA1c.7134+176A>G (n.7134+176A>G)
c.7116+176A>G (n.7116+176A>G)
gnomAD v4
1g.158612641T>GCA2648555489SPTA1c.7134+176A>C (n.7134+176A>C)
c.7116+176A>C (n.7116+176A>C)
gnomAD v4
1g.158612642delCA2648555490SPTA1c.7134+175del (n.7134+175del)
c.7116+175del (n.7116+175del)
gnomAD v4
1g.158612642G=CA1143315652SPTA1c.7134+175C= (n.7134+175C=)
c.7116+175C= (n.7116+175C=)
1g.158612642G>TCA31250391SPTA1c.7134+175C>A (n.7134+175C>A)
c.7116+175C>A (n.7116+175C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612642_158612644delCA2648555491SPTA1c.7134+173_7134+175del (n.7134+173_7134+175del)
c.7116+173_7116+175del (n.7116+173_7116+175del)
gnomAD v4
1g.158612643A>GCA2648555492SPTA1c.7134+174T>C (n.7134+174T>C)
c.7116+174T>C (n.7116+174T>C)
gnomAD v4
1g.158612643A>TCA2648555493SPTA1c.7134+174T>A (n.7134+174T>A)
c.7116+174T>A (n.7116+174T>A)
gnomAD v4
1g.158612644G>TCA2648555494SPTA1c.7134+173C>A (n.7134+173C>A)
c.7116+173C>A (n.7116+173C>A)
gnomAD v4
1g.158612645T>ACA2648555495SPTA1c.7134+172A>T (n.7134+172A>T)
c.7116+172A>T (n.7116+172A>T)
gnomAD v4
1g.158612645T>GCA2648555496SPTA1c.7134+172A>C (n.7134+172A>C)
c.7116+172A>C (n.7116+172A>C)
gnomAD v4
1g.158612646T>ACA2648555497SPTA1c.7134+171A>T (n.7134+171A>T)
c.7116+171A>T (n.7116+171A>T)
gnomAD v4
1g.158612646T>GCA2648555498SPTA1c.7134+171A>C (n.7134+171A>C)
c.7116+171A>C (n.7116+171A>C)
gnomAD v4
1g.158612647G>TCA2648555499SPTA1c.7134+170C>A (n.7134+170C>A)
c.7116+170C>A (n.7116+170C>A)
gnomAD v4
1g.158612647_158612649delCA2746290239SPTA1c.7134+168_7134+170del (n.7134+168_7134+170del)
c.7116+168_7116+170del (n.7116+168_7116+170del)
1g.158612647_158612652delCA2746290240SPTA1c.7134+165_7134+170del (n.7134+165_7134+170del)
c.7116+165_7116+170del (n.7116+165_7116+170del)
1g.158612647_158612654delCA2746290241SPTA1c.7134+163_7134+170del (n.7134+163_7134+170del)
c.7116+163_7116+170del (n.7116+163_7116+170del)
1g.158612648G>ACA889965548SPTA1c.7134+169C>T (n.7134+169C>T)
c.7116+169C>T (n.7116+169C>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612648G=CA1201536818SPTA1c.7134+169C= (n.7134+169C=)
c.7116+169C= (n.7116+169C=)
1g.158612648G>TCA2648555500SPTA1c.7134+169C>A (n.7134+169C>A)
c.7116+169C>A (n.7116+169C>A)
gnomAD v4
1g.158612649G>ACA2648555501SPTA1c.7134+168C>T (n.7134+168C>T)
c.7116+168C>T (n.7116+168C>T)
gnomAD v4
1g.158612649G>TCA2648555502SPTA1c.7134+168C>A (n.7134+168C>A)
c.7116+168C>A (n.7116+168C>A)
gnomAD v4
1g.158612650T>GCA2648555503SPTA1c.7134+167A>C (n.7134+167A>C)
c.7116+167A>C (n.7116+167A>C)
gnomAD v4
1g.158612651C>ACA31250392SPTA1c.7134+166G>T (n.7134+166G>T)
c.7116+166G>T (n.7116+166G>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612651C=CA1201536819SPTA1c.7134+166G= (n.7134+166G=)
c.7116+166G= (n.7116+166G=)
1g.158612651C>GCA526546859SPTA1c.7134+166G>C (n.7134+166G>C)
c.7116+166G>C (n.7116+166G>C)
dbSNP gnomAD v2 gnomAD v4
1g.158612651C>TCA2648555504SPTA1c.7134+166G>A (n.7134+166G>A)
c.7116+166G>A (n.7116+166G>A)
gnomAD v4
1g.158612652A>CCA2648555505SPTA1c.7134+165T>G (n.7134+165T>G)
c.7116+165T>G (n.7116+165T>G)
gnomAD v4
1g.158612652A>GCA2648555506SPTA1c.7134+165T>C (n.7134+165T>C)
c.7116+165T>C (n.7116+165T>C)
gnomAD v4
1g.158612652A>TCA2746290242SPTA1c.7134+165T>A (n.7134+165T>A)
c.7116+165T>A (n.7116+165T>A)
1g.158612654G>ACA1201536821SPTA1c.7134+163C>T (n.7134+163C>T)
c.7116+163C>T (n.7116+163C>T)
dbSNP gnomAD v4
1g.158612654G=CA1201536820SPTA1c.7134+163C= (n.7134+163C=)
c.7116+163C= (n.7116+163C=)
1g.158612654G>TCA2648555507SPTA1c.7134+163C>A (n.7134+163C>A)
c.7116+163C>A (n.7116+163C>A)
gnomAD v4
1g.158612655A=CA1201536822SPTA1c.7134+162T= (n.7134+162T=)
c.7116+162T= (n.7116+162T=)
1g.158612655A>GCA2648555508SPTA1c.7134+162T>C (n.7134+162T>C)
c.7116+162T>C (n.7116+162T>C)
gnomAD v4
1g.158612655A>TCA31250393SPTA1c.7134+162T>A (n.7134+162T>A)
c.7116+162T>A (n.7116+162T>A)
dbSNP gnomAD v4
1g.158612656C>ACA646235464SPTA1c.7134+161G>T (n.7134+161G>T)
c.7116+161G>T (n.7116+161G>T)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.158612656C=CA1201536823SPTA1c.7134+161G= (n.7134+161G=)
c.7116+161G= (n.7116+161G=)
1g.158612656C>GCA2648555510SPTA1c.7134+161G>C (n.7134+161G>C)
c.7116+161G>C (n.7116+161G>C)
gnomAD v4
1g.158612656C>TCA2648555509SPTA1c.7134+161G>A (n.7134+161G>A)
c.7116+161G>A (n.7116+161G>A)
gnomAD v4
1g.158612657A>TCA2648555511SPTA1c.7134+160T>A (n.7134+160T>A)
c.7116+160T>A (n.7116+160T>A)
gnomAD v4
1g.158612659A>GCA2648555512SPTA1c.7134+158T>C (n.7134+158T>C)
c.7116+158T>C (n.7116+158T>C)
gnomAD v4
1g.158612659A>TCA2648555513SPTA1c.7134+158T>A (n.7134+158T>A)
c.7116+158T>A (n.7116+158T>A)
gnomAD v4
1g.158612660A>TCA2648555514SPTA1c.7134+157T>A (n.7134+157T>A)
c.7116+157T>A (n.7116+157T>A)
gnomAD v4
1g.158612661T>ACA2648555515SPTA1c.7134+156A>T (n.7134+156A>T)
c.7116+156A>T (n.7116+156A>T)
gnomAD v4
1g.158612661T>CCA889965553SPTA1c.7134+156A>G (n.7134+156A>G)
c.7116+156A>G (n.7116+156A>G)
dbSNP gnomAD v4
1g.158612661T>GCA889965556SPTA1c.7134+156A>C (n.7134+156A>C)
c.7116+156A>C (n.7116+156A>C)
dbSNP gnomAD v4
1g.158612661T=CA1201536824SPTA1c.7134+156A= (n.7134+156A=)
c.7116+156A= (n.7116+156A=)
1g.158612662G>ACA2648555516SPTA1c.7134+155C>T (n.7134+155C>T)
c.7116+155C>T (n.7116+155C>T)
gnomAD v4
1g.158612662G>TCA2648555517SPTA1c.7134+155C>A (n.7134+155C>A)
c.7116+155C>A (n.7116+155C>A)
gnomAD v4
1g.158612663A>GCA2648555518SPTA1c.7134+154T>C (n.7134+154T>C)
c.7116+154T>C (n.7116+154T>C)
gnomAD v4
1g.158612663A>TCA2648555519SPTA1c.7134+154T>A (n.7134+154T>A)
c.7116+154T>A (n.7116+154T>A)
gnomAD v4
1g.158612664A>GCA2648555520SPTA1c.7134+153T>C (n.7134+153T>C)
c.7116+153T>C (n.7116+153T>C)
gnomAD v4
1g.158612665G>ACA1008228987SPTA1c.7134+152C>T (n.7134+152C>T)
c.7116+152C>T (n.7116+152C>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612665G=CA1201536825SPTA1c.7134+152C= (n.7134+152C=)
c.7116+152C= (n.7116+152C=)
1g.158612666T>ACA2648555521SPTA1c.7134+151A>T (n.7134+151A>T)
c.7116+151A>T (n.7116+151A>T)
gnomAD v4
1g.158612666T>GCA2648555522SPTA1c.7134+151A>C (n.7134+151A>C)
c.7116+151A>C (n.7116+151A>C)
gnomAD v4
1g.158612667G>ACA2648555523SPTA1c.7134+150C>T (n.7134+150C>T)
c.7116+150C>T (n.7116+150C>T)
gnomAD v4
1g.158612667G>TCA2648555524SPTA1c.7134+150C>A (n.7134+150C>A)
c.7116+150C>A (n.7116+150C>A)
gnomAD v4
1g.158612668G>TCA2648555525SPTA1c.7134+149C>A (n.7134+149C>A)
c.7116+149C>A (n.7116+149C>A)
gnomAD v4
1g.158612670T>CCA2648555526SPTA1c.7134+147A>G (n.7134+147A>G)
c.7116+147A>G (n.7116+147A>G)
gnomAD v4
1g.158612670T>GCA2648555527SPTA1c.7134+147A>C (n.7134+147A>C)
c.7116+147A>C (n.7116+147A>C)
gnomAD v4
1g.158612672C>ACA1008228989SPTA1c.7134+145G>T (n.7134+145G>T)
c.7116+145G>T (n.7116+145G>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612672C=CA1201536826SPTA1c.7134+145G= (n.7134+145G=)
c.7116+145G= (n.7116+145G=)
1g.158612673C>ACA2648555528SPTA1c.7134+144G>T (n.7134+144G>T)
c.7116+144G>T (n.7116+144G>T)
gnomAD v4
1g.158612673C=CA1201536827SPTA1c.7134+144G= (n.7134+144G=)
c.7116+144G= (n.7116+144G=)
1g.158612673C>GCA1008228990SPTA1c.7134+144G>C (n.7134+144G>C)
c.7116+144G>C (n.7116+144G>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612673C>TCA2648555529SPTA1c.7134+144G>A (n.7134+144G>A)
c.7116+144G>A (n.7116+144G>A)
gnomAD v4
1g.158612674A>GCA2648555530SPTA1c.7134+143T>C (n.7134+143T>C)
c.7116+143T>C (n.7116+143T>C)
gnomAD v4
1g.158612677G>ACA2648555531SPTA1c.7134+140C>T (n.7134+140C>T)
c.7116+140C>T (n.7116+140C>T)
gnomAD v4
1g.158612677G>CCA889965559SPTA1c.7134+140C>G (n.7134+140C>G)
c.7116+140C>G (n.7116+140C>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612677G=CA1201536828SPTA1c.7134+140C= (n.7134+140C=)
c.7116+140C= (n.7116+140C=)
1g.158612677G>TCA2648555532SPTA1c.7134+140C>A (n.7134+140C>A)
c.7116+140C>A (n.7116+140C>A)
dbSNP gnomAD v4
1g.158612678C>ACA1008228994SPTA1c.7134+139G>T (n.7134+139G>T)
c.7116+139G>T (n.7116+139G>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612678C=CA1201536829SPTA1c.7134+139G= (n.7134+139G=)
c.7116+139G= (n.7116+139G=)
1g.158612678C>GCA2648555533SPTA1c.7134+139G>C (n.7134+139G>C)
c.7116+139G>C (n.7116+139G>C)
gnomAD v4
1g.158612679A=CA1201536830SPTA1c.7134+138T= (n.7134+138T=)
c.7116+138T= (n.7116+138T=)
1g.158612679A>CCA2648555535SPTA1c.7134+138T>G (n.7134+138T>G)
c.7116+138T>G (n.7116+138T>G)
gnomAD v4
1g.158612679A>GCA1008228996SPTA1c.7134+138T>C (n.7134+138T>C)
c.7116+138T>C (n.7116+138T>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612679A>TCA2648555534SPTA1c.7134+138T>A (n.7134+138T>A)
c.7116+138T>A (n.7116+138T>A)
gnomAD v4
1g.158612680A>GCA2549330709SPTA1c.7134+137T>C (n.7134+137T>C)
c.7116+137T>C (n.7116+137T>C)
1g.158612682T>ACA2648555536SPTA1c.7134+135A>T (n.7134+135A>T)
c.7116+135A>T (n.7116+135A>T)
gnomAD v4
1g.158612682T>CCA2648555537SPTA1c.7134+135A>G (n.7134+135A>G)
c.7116+135A>G (n.7116+135A>G)
gnomAD v4
1g.158612682T>GCA1008229009SPTA1c.7134+135A>C (n.7134+135A>C)
c.7116+135A>C (n.7116+135A>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612682T=CA1201536831SPTA1c.7134+135A= (n.7134+135A=)
c.7116+135A= (n.7116+135A=)
1g.158612683G>TCA2648555538SPTA1c.7134+134C>A (n.7134+134C>A)
c.7116+134C>A (n.7116+134C>A)
gnomAD v4
1g.158612684A>TCA2648555539SPTA1c.7134+133T>A (n.7134+133T>A)
c.7116+133T>A (n.7116+133T>A)
gnomAD v4
1g.158612685C>ACA2648555540SPTA1c.7134+132G>T (n.7134+132G>T)
c.7116+132G>T (n.7116+132G>T)
gnomAD v4
1g.158612685C>TCA2648555541SPTA1c.7134+132G>A (n.7134+132G>A)
c.7116+132G>A (n.7116+132G>A)
gnomAD v4
1g.158612686A=CA1201536832SPTA1c.7134+131T= (n.7134+131T=)
c.7116+131T= (n.7116+131T=)
1g.158612686A>GCA31250396SPTA1c.7134+131T>C (n.7134+131T>C)
c.7116+131T>C (n.7116+131T>C)
dbSNP
1g.158612687T>ACA2648555542SPTA1c.7134+130A>T (n.7134+130A>T)
c.7116+130A>T (n.7116+130A>T)
gnomAD v4
1g.158612687T>CCA889965560SPTA1c.7134+130A>G (n.7134+130A>G)
c.7116+130A>G (n.7116+130A>G)
dbSNP gnomAD v3 gnomAD v4
1g.158612687T=CA1201536833SPTA1c.7134+130A= (n.7134+130A=)
c.7116+130A= (n.7116+130A=)
1g.158612688C>ACA2648555543SPTA1c.7134+129G>T (n.7134+129G>T)
c.7116+129G>T (n.7116+129G>T)
gnomAD v4
1g.158612688C>GCA2648555544SPTA1c.7134+129G>C (n.7134+129G>C)
c.7116+129G>C (n.7116+129G>C)
gnomAD v4
1g.158612689T>CCA2648555545SPTA1c.7134+128A>G (n.7134+128A>G)
c.7116+128A>G (n.7116+128A>G)
gnomAD v4
1g.158612690T>GCA2648555546SPTA1c.7134+127A>C (n.7134+127A>C)
c.7116+127A>C (n.7116+127A>C)
gnomAD v4
1g.158612691G>ACA2648555547SPTA1c.7134+126C>T (n.7134+126C>T)
c.7116+126C>T (n.7116+126C>T)
gnomAD v4
1g.158612691G>TCA2648555548SPTA1c.7134+126C>A (n.7134+126C>A)
c.7116+126C>A (n.7116+126C>A)
gnomAD v4
1g.158612692T>CCA1201536835SPTA1c.7134+125A>G (n.7134+125A>G)
c.7116+125A>G (n.7116+125A>G)
dbSNP gnomAD v4
1g.158612692T>GCA2648555549SPTA1c.7134+125A>C (n.7134+125A>C)
c.7116+125A>C (n.7116+125A>C)
gnomAD v4
1g.158612692T=CA1201536834SPTA1c.7134+125A= (n.7134+125A=)
c.7116+125A= (n.7116+125A=)
1g.158612693G>ACA2648555550SPTA1c.7134+124C>T (n.7134+124C>T)
c.7116+124C>T (n.7116+124C>T)
gnomAD v4
1g.158612693G>TCA2648555551SPTA1c.7134+124C>A (n.7134+124C>A)
c.7116+124C>A (n.7116+124C>A)
gnomAD v4
1g.158612693_158612694delinsGACA1201536836SPTA1c.7134+123_7134+124delinsTC (n.7134+123_7134+124delinsTC)
c.7116+123_7116+124delinsTC (n.7116+123_7116+124delinsTC)
1g.158612694A=CA1201536837SPTA1c.7134+123T= (n.7134+123T=)
c.7116+123T= (n.7116+123T=)
1g.158612694A>CCA1201536839SPTA1c.7134+123T>G (n.7134+123T>G)
c.7116+123T>G (n.7116+123T>G)
dbSNP
1g.158612694A>GCA1201536838SPTA1c.7134+123T>C (n.7134+123T>C)
c.7116+123T>C (n.7116+123T>C)
dbSNP
1g.158612694A>TCA2648555552SPTA1c.7134+123T>A (n.7134+123T>A)
c.7116+123T>A (n.7116+123T>A)
gnomAD v4
1g.158612696delCA889965561SPTA1c.7134+123del (n.7134+123del)
c.7116+123del (n.7116+123del)
dbSNP gnomAD v4
1g.158612695A>GCA2648555553SPTA1c.7134+122T>C (n.7134+122T>C)
c.7116+122T>C (n.7116+122T>C)
gnomAD v4
1g.158612696A>CCA2648555554SPTA1c.7134+121T>G (n.7134+121T>G)
c.7116+121T>G (n.7116+121T>G)
gnomAD v4
1g.158612696A>GCA2648555555SPTA1c.7134+121T>C (n.7134+121T>C)
c.7116+121T>C (n.7116+121T>C)
gnomAD v4
1g.158612696A>TCA2648555556SPTA1c.7134+121T>A (n.7134+121T>A)
c.7116+121T>A (n.7116+121T>A)
gnomAD v4
1g.158612697G>ACA2648555557SPTA1c.7134+120C>T (n.7134+120C>T)
c.7116+120C>T (n.7116+120C>T)
dbSNP gnomAD v4
1g.158612697G>TCA2648555558SPTA1c.7134+120C>A (n.7134+120C>A)
c.7116+120C>A (n.7116+120C>A)
gnomAD v4
1g.158612698G>ACA2648555559SPTA1c.7134+119C>T (n.7134+119C>T)
c.7116+119C>T (n.7116+119C>T)
gnomAD v4
1g.158612698G>CCA2564050302SPTA1c.7134+119C>G (n.7134+119C>G)
c.7116+119C>G (n.7116+119C>G)
gnomAD v4
1g.158612698G>TCA2648555560SPTA1c.7134+119C>A (n.7134+119C>A)
c.7116+119C>A (n.7116+119C>A)
gnomAD v4
1g.158612699G>ACA1201536841SPTA1c.7134+118C>T (n.7134+118C>T)
c.7116+118C>T (n.7116+118C>T)
dbSNP
1g.158612699G=CA1201536840SPTA1c.7134+118C= (n.7134+118C=)
c.7116+118C= (n.7116+118C=)
1g.158612699G>TCA2648555561SPTA1c.7134+118C>A (n.7134+118C>A)
c.7116+118C>A (n.7116+118C>A)
gnomAD v4
1g.158612700G>ACA2648555563SPTA1c.7134+117C>T (n.7134+117C>T)
c.7116+117C>T (n.7116+117C>T)
gnomAD v4
1g.158612700G>TCA2648555562SPTA1c.7134+117C>A (n.7134+117C>A)
c.7116+117C>A (n.7116+117C>A)
gnomAD v4
1g.158612701A>CCA2648555565SPTA1c.7134+116T>G (n.7134+116T>G)
c.7116+116T>G (n.7116+116T>G)
gnomAD v4
1g.158612701A>GCA2648555564SPTA1c.7134+116T>C (n.7134+116T>C)
c.7116+116T>C (n.7116+116T>C)
gnomAD v4
1g.158612701A>TCA2648555566SPTA1c.7134+116T>A (n.7134+116T>A)
c.7116+116T>A (n.7116+116T>A)
gnomAD v4
1g.158612702G>ACA1201536843SPTA1c.7134+115C>T (n.7134+115C>T)
c.7116+115C>T (n.7116+115C>T)
dbSNP
1g.158612702G=CA1201536842SPTA1c.7134+115C= (n.7134+115C=)
c.7116+115C= (n.7116+115C=)
1g.158612702G>TCA2648555567SPTA1c.7134+115C>A (n.7134+115C>A)
c.7116+115C>A (n.7116+115C>A)
gnomAD v4
1g.158612703G>ACA1008229018SPTA1c.7134+114C>T (n.7134+114C>T)
c.7116+114C>T (n.7116+114C>T)
gnomAD v4
1g.158612703G>CCA31250409SPTA1c.7134+114C>G (n.7134+114C>G)
c.7116+114C>G (n.7116+114C>G)
dbSNP
1g.158612703G=CA1201536844SPTA1c.7134+114C= (n.7134+114C=)
c.7116+114C= (n.7116+114C=)
1g.158612703G>TCA2542457722SPTA1c.7134+114C>A (n.7134+114C>A)
c.7116+114C>A (n.7116+114C>A)
gnomAD v4
1g.158612704T>CCA2648555568SPTA1c.7134+113A>G (n.7134+113A>G)
c.7116+113A>G (n.7116+113A>G)
gnomAD v4
1g.158612704T>GCA1201536846SPTA1c.7134+113A>C (n.7134+113A>C)
c.7116+113A>C (n.7116+113A>C)
dbSNP gnomAD v4
1g.158612704T=CA1201536845SPTA1c.7134+113A= (n.7134+113A=)
c.7116+113A= (n.7116+113A=)
1g.158612705C>ACA1008229024SPTA1c.7134+112G>T (n.7134+112G>T)
c.7116+112G>T (n.7116+112G>T)
gnomAD v3 gnomAD v4
1g.158612705C>TCA2648555569SPTA1c.7134+112G>A (n.7134+112G>A)
c.7116+112G>A (n.7116+112G>A)
gnomAD v4
1g.158612706T>ACA1008229028SPTA1c.7134+111A>T (n.7134+111A>T)
c.7116+111A>T (n.7116+111A>T)
gnomAD v3 gnomAD v4
1g.158612706T>CCA2648555571SPTA1c.7134+111A>G (n.7134+111A>G)
c.7116+111A>G (n.7116+111A>G)
gnomAD v4
1g.158612706dupCA2648555570SPTA1c.7134+111dup (n.7134+111dup)
c.7116+111dup (n.7116+111dup)
gnomAD v4
1g.158612706_158612707insACA2648555572SPTA1c.7134+110_7134+111insT (n.7134+110_7134+111insT)
c.7116+110_7116+111insT (n.7116+110_7116+111insT)
gnomAD v4
1g.158612707G>ACA889965562SPTA1c.7134+110C>T (n.7134+110C>T)
c.7116+110C>T (n.7116+110C>T)
dbSNP gnomAD v3 gnomAD v4
1g.158612707G=CA1201536848SPTA1c.7134+110C= (n.7134+110C=)
c.7116+110C= (n.7116+110C=)
1g.158612707G>TCA1201536849SPTA1c.7134+110C>A (n.7134+110C>A)
c.7116+110C>A (n.7116+110C>A)
dbSNP gnomAD v4
1g.158612707_158612709delCA2648555573SPTA1c.7134+108_7134+110del (n.7134+108_7134+110del)
c.7116+108_7116+110del (n.7116+108_7116+110del)
gnomAD v4
1g.158612707_158612709delinsGAACA1201536847SPTA1c.7134+108_7134+110delinsTTC (n.7134+108_7134+110delinsTTC)
c.7116+108_7116+110delinsTTC (n.7116+108_7116+110delinsTTC)
1g.158612708A>GCA2648555578SPTA1c.7134+109T>C (n.7134+109T>C)
c.7116+109T>C (n.7116+109T>C)
gnomAD v4
1g.158612708A>TCA2648555579SPTA1c.7134+109T>A (n.7134+109T>A)
c.7116+109T>A (n.7116+109T>A)
gnomAD v4
1g.158612718dupCA31250412SPTA1c.7134+109dup (n.7134+109dup)
c.7116+109dup (n.7116+109dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.158612717_158612718dupCA1008229032SPTA1c.7134+108_7134+109dup (n.7134+108_7134+109dup)
c.7116+108_7116+109dup (n.7116+108_7116+109dup)
dbSNP gnomAD v3 gnomAD v4
1g.158612716_158612718dupCA2648555574SPTA1c.7134+107_7134+109dup (n.7134+107_7134+109dup)
c.7116+107_7116+109dup (n.7116+107_7116+109dup)
gnomAD v4
1g.158612715_158612718dupCA2648555575SPTA1c.7134+106_7134+109dup (n.7134+106_7134+109dup)
c.7116+106_7116+109dup (n.7116+106_7116+109dup)
gnomAD v4
1g.158612714_158612718dupCA2648555576SPTA1c.7134+105_7134+109dup (n.7134+105_7134+109dup)
c.7116+105_7116+109dup (n.7116+105_7116+109dup)
gnomAD v4
1g.158612718delCA526546860SPTA1c.7134+109del (n.7134+109del)
c.7116+109del (n.7116+109del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.158612717_158612718delCA1008229033SPTA1c.7134+108_7134+109del (n.7134+108_7134+109del)
c.7116+108_7116+109del (n.7116+108_7116+109del)
dbSNP gnomAD v3 gnomAD v4
1g.158612716_158612718delCA2648555577SPTA1c.7134+107_7134+109del (n.7134+107_7134+109del)
c.7116+107_7116+109del (n.7116+107_7116+109del)
gnomAD v4
1g.158612710A>GCA2648555580SPTA1c.7134+107T>C (n.7134+107T>C)
c.7116+107T>C (n.7116+107T>C)
gnomAD v4
1g.158612711A>TCA2648555581SPTA1c.7134+106T>A (n.7134+106T>A)
c.7116+106T>A (n.7116+106T>A)
gnomAD v4
1g.158612713A>CCA2648555582SPTA1c.7134+104T>G (n.7134+104T>G)
c.7116+104T>G (n.7116+104T>G)
gnomAD v4
1g.158612714A=CA1201536850SPTA1c.7134+103T= (n.7134+103T=)
c.7116+103T= (n.7116+103T=)
1g.158612714A>GCA1201536851SPTA1c.7134+103T>C (n.7134+103T>C)
c.7116+103T>C (n.7116+103T>C)
dbSNP
1g.158612715A=CA1201536852SPTA1c.7134+102T= (n.7134+102T=)
c.7116+102T= (n.7116+102T=)
1g.158612715A>TCA1201536853SPTA1c.7134+102T>A (n.7134+102T>A)
c.7116+102T>A (n.7116+102T>A)
dbSNP gnomAD v4
1g.158612716_158612719delinsAAACCA1201536854SPTA1c.7134+98_7134+101delinsGTTT (n.7134+98_7134+101delinsGTTT)
c.7116+98_7116+101delinsGTTT (n.7116+98_7116+101delinsGTTT)
1g.158612716_158612717insGCA2648555583SPTA1c.7134+100_7134+101insC (n.7134+100_7134+101insC)
c.7116+100_7116+101insC (n.7116+100_7116+101insC)
gnomAD v4
1g.158612717A>CCA2746290243SPTA1c.7134+100T>G (n.7134+100T>G)
c.7116+100T>G (n.7116+100T>G)
1g.158612719_158612721delCA526546861SPTA1c.7134+98_7134+100del (n.7134+98_7134+100del)
c.7116+98_7116+100del (n.7116+98_7116+100del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612718A=CA1201536855SPTA1c.7134+99T= (n.7134+99T=)
c.7116+99T= (n.7116+99T=)
1g.158612718A>CCA1201536856SPTA1c.7134+99T>G (n.7134+99T>G)
c.7116+99T>G (n.7116+99T>G)
dbSNP gnomAD v4
1g.158612718A>GCA889965577SPTA1c.7134+99T>C (n.7134+99T>C)
c.7116+99T>C (n.7116+99T>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612718A>TCA2648555584SPTA1c.7134+99T>A (n.7134+99T>A)
c.7116+99T>A (n.7116+99T>A)
gnomAD v4
1g.158612719delCA2648555585SPTA1c.7134+98del (n.7134+98del)
c.7116+98del (n.7116+98del)
gnomAD v4
1g.158612719C>ACA889965579SPTA1c.7134+98G>T (n.7134+98G>T)
c.7116+98G>T (n.7116+98G>T)
dbSNP gnomAD v4
1g.158612719C=CA1201536857SPTA1c.7134+98G= (n.7134+98G=)
c.7116+98G= (n.7116+98G=)
1g.158612719C>GCA31250419SPTA1c.7134+98G>C (n.7134+98G>C)
c.7116+98G>C (n.7116+98G>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612719C>TCA2573929121SPTA1c.7134+98G>A (n.7134+98G>A)
c.7116+98G>A (n.7116+98G>A)
gnomAD v4
1g.158612720A>TCA2648555586SPTA1c.7134+97T>A (n.7134+97T>A)
c.7116+97T>A (n.7116+97T>A)
gnomAD v4
1g.158612721A>GCA2648555587SPTA1c.7134+96T>C (n.7134+96T>C)
c.7116+96T>C (n.7116+96T>C)
gnomAD v4
1g.158612722delCA2648555590SPTA1c.7134+95del (n.7134+95del)
c.7116+95del (n.7116+95del)
gnomAD v4
1g.158612722G>ACA2648555588SPTA1c.7134+95C>T (n.7134+95C>T)
c.7116+95C>T (n.7116+95C>T)
gnomAD v4
1g.158612722G>TCA2648555589SPTA1c.7134+95C>A (n.7134+95C>A)
c.7116+95C>A (n.7116+95C>A)
gnomAD v4
1g.158612723T>ACA1008229040SPTA1c.7134+94A>T (n.7134+94A>T)
c.7116+94A>T (n.7116+94A>T)
gnomAD v3 gnomAD v4
1g.158612723T>CCA2648555591SPTA1c.7134+94A>G (n.7134+94A>G)
c.7116+94A>G (n.7116+94A>G)
gnomAD v4
1g.158612723T>GCA1008229045SPTA1c.7134+94A>C (n.7134+94A>C)
c.7116+94A>C (n.7116+94A>C)
dbSNP gnomAD v3 gnomAD v4
1g.158612723T=CA1201536858SPTA1c.7134+94A= (n.7134+94A=)
c.7116+94A= (n.7116+94A=)
1g.158612724G>TCA2573929127SPTA1c.7134+93C>A (n.7134+93C>A)
c.7116+93C>A (n.7116+93C>A)
gnomAD v4
1g.158612726delCA2648555592SPTA1c.7134+93del (n.7134+93del)
c.7116+93del (n.7116+93del)
gnomAD v4
1g.158612725G>TCA2648555593SPTA1c.7134+92C>A (n.7134+92C>A)
c.7116+92C>A (n.7116+92C>A)
dbSNP gnomAD v4
1g.158612726G>CCA2648555594SPTA1c.7134+91C>G (n.7134+91C>G)
c.7116+91C>G (n.7116+91C>G)
gnomAD v4
1g.158612726G=CA1201536859SPTA1c.7134+91C= (n.7134+91C=)
c.7116+91C= (n.7116+91C=)
1g.158612726G>TCA889965581SPTA1c.7134+91C>A (n.7134+91C>A)
c.7116+91C>A (n.7116+91C>A)
dbSNP gnomAD v4
1g.158612727T>ACA1008229078SPTA1c.7134+90A>T (n.7134+90A>T)
c.7116+90A>T (n.7116+90A>T)
gnomAD v3 gnomAD v4
1g.158612727T>CCA2648555595SPTA1c.7134+90A>G (n.7134+90A>G)
c.7116+90A>G (n.7116+90A>G)
gnomAD v4
1g.158612727T>GCA526546862SPTA1c.7134+90A>C (n.7134+90A>C)
c.7116+90A>C (n.7116+90A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.158612727T=CA1201536860SPTA1c.7134+90A= (n.7134+90A=)
c.7116+90A= (n.7116+90A=)

Number of alleles fetched