Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229431542T>ACA345144311ACTA1c.1013A>T (p.Tyr338Phe)
c.956A>T (p.Tyr319Phe)
c.722A>T (p.Tyr241Phe)
c.1091A>T (p.Tyr364Phe)
1g.229431542T>CCA345144314ACTA1c.1013A>G (p.Tyr338Cys)
c.956A>G (p.Tyr319Cys)
c.722A>G (p.Tyr241Cys)
c.1091A>G (p.Tyr364Cys)
1g.229431542T>GCA345144316ACTA1c.1013A>C (p.Tyr338Ser)
c.956A>C (p.Tyr319Ser)
c.722A>C (p.Tyr241Ser)
c.1091A>C (p.Tyr364Ser)
1g.229431543A>CCA345144320ACTA1c.1012T>G (p.Tyr338Asp)
c.955T>G (p.Tyr319Asp)
c.721T>G (p.Tyr241Asp)
c.1090T>G (p.Tyr364Asp)
1g.229431543A>GCA345144322ACTA1c.1012T>C (p.Tyr338His)
c.955T>C (p.Tyr319His)
c.721T>C (p.Tyr241His)
c.1090T>C (p.Tyr364His)
1g.229431543A>TCA345144330ACTA1c.1012T>A (p.Tyr338Asn)
c.955T>A (p.Tyr319Asn)
c.721T>A (p.Tyr241Asn)
c.1090T>A (p.Tyr364Asn)
1g.229431544C>ACA345144336ACTA1c.1011G>T (p.Glu337Asp)
c.954G>T (p.Glu318Asp)
c.720G>T (p.Glu240Asp)
c.1089G>T (p.Glu363Asp)
1g.229431544C>GCA345144338ACTA1c.1011G>C (p.Glu337Asp)
c.954G>C (p.Glu318Asp)
c.720G>C (p.Glu240Asp)
c.1089G>C (p.Glu363Asp)
1g.229431544C>TCA423754830ACTA1c.1011G>A (p.Glu337=)
c.954G>A (p.Glu318=)
c.720G>A (p.Glu240=)
c.1089G>A (p.Glu363=)
1g.229431545T>ACA345144342ACTA1c.1010A>T (p.Glu337Val)
c.953A>T (p.Glu318Val)
c.719A>T (p.Glu240Val)
c.1088A>T (p.Glu363Val)
1g.229431545T>CCA345144343ACTA1c.1010A>G (p.Glu337Gly)
c.953A>G (p.Glu318Gly)
c.719A>G (p.Glu240Gly)
c.1088A>G (p.Glu363Gly)
 gnomAD v4
1g.229431545T>GCA345144345ACTA1c.1010A>C (p.Glu337Ala)
c.953A>C (p.Glu318Ala)
c.719A>C (p.Glu240Ala)
c.1088A>C (p.Glu363Ala)
 gnomAD v4
1g.229431546C>ACA345144352ACTA1c.1009G>T (p.Glu337Ter)
c.952G>T (p.Glu318Ter)
c.718G>T (p.Glu240Ter)
c.1087G>T (p.Glu363Ter)
1g.229431546C>GCA345144353ACTA1c.1009G>C (p.Glu337Gln)
c.952G>C (p.Glu318Gln)
c.718G>C (p.Glu240Gln)
c.1087G>C (p.Glu363Gln)
1g.229431546C>TCA345144350ACTA1c.1009G>A (p.Glu337Lys)
c.952G>A (p.Glu318Lys)
c.718G>A (p.Glu240Lys)
c.1087G>A (p.Glu363Lys)
1g.229431547C>ACA345144356ACTA1c.1008G>T (p.Gln336His)
c.951G>T (p.Gln317His)
c.717G>T (p.Gln239His)
c.1086G>T (p.Gln362His)
1g.229431547C>GCA345144359ACTA1c.1008G>C (p.Gln336His)
c.951G>C (p.Gln317His)
c.717G>C (p.Gln239His)
c.1086G>C (p.Gln362His)
1g.229431547C>TCA423754835ACTA1c.1008G>A (p.Gln336=)
c.951G>A (p.Gln317=)
c.717G>A (p.Gln239=)
c.1086G>A (p.Gln362=)
 gnomAD v4
1g.229431548T>ACA345144361ACTA1c.1007A>T (p.Gln336Leu)
c.950A>T (p.Gln317Leu)
c.716A>T (p.Gln239Leu)
c.1085A>T (p.Gln362Leu)
1g.229431548T>CCA345144362ACTA1c.1007A>G (p.Gln336Arg)
c.950A>G (p.Gln317Arg)
c.716A>G (p.Gln239Arg)
c.1085A>G (p.Gln362Arg)
1g.229431548T>GCA345144365ACTA1c.1007A>C (p.Gln336Pro)
c.950A>C (p.Gln317Pro)
c.716A>C (p.Gln239Pro)
c.1085A>C (p.Gln362Pro)
1g.229431549G>ACA345144370ACTA1c.1006C>T (p.Gln336Ter)
c.949C>T (p.Gln317Ter)
c.715C>T (p.Gln239Ter)
c.1084C>T (p.Gln362Ter)
1g.229431549G>CCA345144374ACTA1c.1006C>G (p.Gln336Glu)
c.949C>G (p.Gln317Glu)
c.715C>G (p.Gln239Glu)
c.1084C>G (p.Gln362Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.229431549G=CA1226125376ACTA1c.1006C= (p.Gln336=)
c.949C= (p.Gln317=)
c.715C= (p.Gln239=)
c.1084C= (p.Gln362=)
1g.229431549G>TCA345144377ACTA1c.1006C>A (p.Gln336Lys)
c.949C>A (p.Gln317Lys)
c.715C>A (p.Gln239Lys)
c.1084C>A (p.Gln362Lys)
1g.229431550C>ACA345144380ACTA1c.1005G>T (p.Lys335Asn)
c.948G>T (p.Lys316Asn)
c.714G>T (p.Lys238Asn)
c.1083G>T (p.Lys361Asn)
1g.229431550C=CA1226125377ACTA1c.1005G= (p.Lys335=)
c.948G= (p.Lys316=)
c.714G= (p.Lys238=)
c.1083G= (p.Lys361=)
1g.229431550C>GCA345144384ACTA1c.1005G>C (p.Lys335Asn)
c.948G>C (p.Lys316Asn)
c.714G>C (p.Lys238Asn)
c.1083G>C (p.Lys361Asn)
1g.229431550C>TCA423754841ACTA1c.1005G>A (p.Lys335=)
c.948G>A (p.Lys316=)
c.714G>A (p.Lys238=)
c.1083G>A (p.Lys361=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431551T>ACA345144388ACTA1c.1004A>T (p.Lys335Met)
c.947A>T (p.Lys316Met)
c.713A>T (p.Lys238Met)
c.1082A>T (p.Lys361Met)
1g.229431551T>CCA1442709ACTA1c.1004A>G (p.Lys335Arg)
c.947A>G (p.Lys316Arg)
c.713A>G (p.Lys238Arg)
c.1082A>G (p.Lys361Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431551T>GCA345144392ACTA1c.1004A>C (p.Lys335Thr)
c.947A>C (p.Lys316Thr)
c.713A>C (p.Lys238Thr)
c.1082A>C (p.Lys361Thr)
1g.229431551T=CA1226125378ACTA1c.1004A= (p.Lys335=)
c.947A= (p.Lys316=)
c.713A= (p.Lys238=)
c.1082A= (p.Lys361=)
1g.229431552T>ACA345144404ACTA1c.1003A>T (p.Lys335Ter)
c.946A>T (p.Lys316Ter)
c.712A>T (p.Lys238Ter)
c.1081A>T (p.Lys361Ter)
1g.229431552T>CCA345144399ACTA1c.1003A>G (p.Lys335Glu)
c.946A>G (p.Lys316Glu)
c.712A>G (p.Lys238Glu)
c.1081A>G (p.Lys361Glu)
1g.229431552T>GCA345144398ACTA1c.1003A>C (p.Lys335Gln)
c.946A>C (p.Lys316Gln)
c.712A>C (p.Lys238Gln)
c.1081A>C (p.Lys361Gln)
1g.229431553G>ACA423754795ACTA1c.1002C>T (p.Thr334=)
c.945C>T (p.Thr315=)
c.711C>T (p.Thr237=)
c.1080C>T (p.Thr360=)
1g.229431553G>CCA423754796ACTA1c.1002C>G (p.Thr334=)
c.945C>G (p.Thr315=)
c.711C>G (p.Thr237=)
c.1080C>G (p.Thr360=)
1g.229431553G>TCA423754797ACTA1c.1002C>A (p.Thr334=)
c.945C>A (p.Thr315=)
c.711C>A (p.Thr237=)
c.1080C>A (p.Thr360=)
1g.229431554G>ACA345144407ACTA1c.1001C>T (p.Thr334Ile)
c.944C>T (p.Thr315Ile)
c.710C>T (p.Thr237Ile)
c.1079C>T (p.Thr360Ile)
1g.229431554G>CCA345144409ACTA1c.1001C>G (p.Thr334Ser)
c.944C>G (p.Thr315Ser)
c.710C>G (p.Thr237Ser)
c.1079C>G (p.Thr360Ser)
1g.229431554G>TCA345144412ACTA1c.1001C>A (p.Thr334Asn)
c.944C>A (p.Thr315Asn)
c.710C>A (p.Thr237Asn)
c.1079C>A (p.Thr360Asn)
1g.229431555T>ACA345144413ACTA1c.1000A>T (p.Thr334Ser)
c.943A>T (p.Thr315Ser)
c.709A>T (p.Thr237Ser)
c.1078A>T (p.Thr360Ser)
 dbSNP
1g.229431555T>CCA345144414ACTA1c.1000A>G (p.Thr334Ala)
c.943A>G (p.Thr315Ala)
c.709A>G (p.Thr237Ala)
c.1078A>G (p.Thr360Ala)
1g.229431555T>GCA345144415ACTA1c.1000A>C (p.Thr334Pro)
c.943A>C (p.Thr315Pro)
c.709A>C (p.Thr237Pro)
c.1078A>C (p.Thr360Pro)
1g.229431555T=CA1226125379ACTA1c.1000A= (p.Thr334=)
c.943A= (p.Thr315=)
c.709A= (p.Thr237=)
c.1078A= (p.Thr360=)
1g.229431556G>ACA423754798ACTA1c.999C>T (p.Ile333=)
c.942C>T (p.Ile314=)
c.708C>T (p.Ile236=)
c.1077C>T (p.Ile359=)
1g.229431556G>CCA345144417ACTA1c.999C>G (p.Ile333Met)
c.942C>G (p.Ile314Met)
c.708C>G (p.Ile236Met)
c.1077C>G (p.Ile359Met)
1g.229431556G>TCA423754800ACTA1c.999C>A (p.Ile333=)
c.942C>A (p.Ile314=)
c.708C>A (p.Ile236=)
c.1077C>A (p.Ile359=)
1g.229431557A>CCA345144421ACTA1c.998T>G (p.Ile333Ser)
c.941T>G (p.Ile314Ser)
c.707T>G (p.Ile236Ser)
c.1076T>G (p.Ile359Ser)
1g.229431557A>GCA345144423ACTA1c.998T>C (p.Ile333Thr)
c.941T>C (p.Ile314Thr)
c.707T>C (p.Ile236Thr)
c.1076T>C (p.Ile359Thr)
1g.229431557A>TCA345144426ACTA1c.998T>A (p.Ile333Asn)
c.941T>A (p.Ile314Asn)
c.707T>A (p.Ile236Asn)
c.1076T>A (p.Ile359Asn)
1g.229431558T>ACA345144427ACTA1c.997A>T (p.Ile333Phe)
c.940A>T (p.Ile314Phe)
c.706A>T (p.Ile236Phe)
c.1075A>T (p.Ile359Phe)
1g.229431558T>CCA345144440ACTA1c.997A>G (p.Ile333Val)
c.940A>G (p.Ile314Val)
c.706A>G (p.Ile236Val)
c.1075A>G (p.Ile359Val)
 ClinVar
1g.229431558T>GCA258138ACTA1c.997A>C (p.Ile333Leu)
c.940A>C (p.Ile314Leu)
c.706A>C (p.Ile236Leu)
c.1075A>C (p.Ile359Leu)
 ClinVar dbSNP
1g.229431558T=CA1141581370ACTA1c.997A= (p.Ile333=)
c.940A= (p.Ile314=)
c.706A= (p.Ile236=)
c.1075A= (p.Ile359=)
1g.229431559C>ACA269775ACTA1c.996G>T (p.Trp332Cys)
c.939G>T (p.Trp313Cys)
c.705G>T (p.Trp235Cys)
c.1074G>T (p.Trp358Cys)
 ClinVar dbSNP
1g.229431559C=CA1148225031ACTA1c.996G= (p.Trp332=)
c.939G= (p.Trp313=)
c.705G= (p.Trp235=)
c.1074G= (p.Trp358=)
1g.229431559C>GCA345144451ACTA1c.996G>C (p.Trp332Cys)
c.939G>C (p.Trp313Cys)
c.705G>C (p.Trp235Cys)
c.1074G>C (p.Trp358Cys)
1g.229431559C>TCA345144447ACTA1c.996G>A (p.Trp332Ter)
c.939G>A (p.Trp313Ter)
c.705G>A (p.Trp235Ter)
c.1074G>A (p.Trp358Ter)
1g.229431560C>ACA345144454ACTA1c.995G>T (p.Trp332Leu)
c.938G>T (p.Trp313Leu)
c.704G>T (p.Trp235Leu)
c.1073G>T (p.Trp358Leu)
1g.229431560C>GCA345144460ACTA1c.995G>C (p.Trp332Ser)
c.938G>C (p.Trp313Ser)
c.704G>C (p.Trp235Ser)
c.1073G>C (p.Trp358Ser)
1g.229431560C>TCA345144456ACTA1c.995G>A (p.Trp332Ter)
c.938G>A (p.Trp313Ter)
c.704G>A (p.Trp235Ter)
c.1073G>A (p.Trp358Ter)
 gnomAD v4
1g.229431561A>CCA345144466ACTA1c.994T>G (p.Trp332Gly)
c.937T>G (p.Trp313Gly)
c.703T>G (p.Trp235Gly)
c.1072T>G (p.Trp358Gly)
1g.229431561A>GCA345144469ACTA1c.994T>C (p.Trp332Arg)
c.937T>C (p.Trp313Arg)
c.703T>C (p.Trp235Arg)
c.1072T>C (p.Trp358Arg)
1g.229431561A>TCA345144472ACTA1c.994T>A (p.Trp332Arg)
c.937T>A (p.Trp313Arg)
c.703T>A (p.Trp235Arg)
c.1072T>A (p.Trp358Arg)
1g.229431562C>ACA345144475ACTA1c.993G>T (p.Met331Ile)
c.936G>T (p.Met312Ile)
c.702G>T (p.Met234Ile)
c.1071G>T (p.Met357Ile)
1g.229431562C=CA1148239652ACTA1c.993G= (p.Met331=)
c.936G= (p.Met312=)
c.702G= (p.Met234=)
c.1071G= (p.Met357=)
1g.229431562C>GCA345144479ACTA1c.993G>C (p.Met331Ile)
c.936G>C (p.Met312Ile)
c.702G>C (p.Met234Ile)
c.1071G>C (p.Met357Ile)
 ClinVar dbSNP gnomAD v4
1g.229431562C>TCA1442710ACTA1c.993G>A (p.Met331Ile)
c.936G>A (p.Met312Ile)
c.702G>A (p.Met234Ile)
c.1071G>A (p.Met357Ile)
 dbSNP ExAC gnomAD v2
1g.229431563A=CA1147059542ACTA1c.992T= (p.Met331=)
c.935T= (p.Met312=)
c.701T= (p.Met234=)
c.1070T= (p.Met357=)
1g.229431563A>CCA345144484ACTA1c.992T>G (p.Met331Arg)
c.935T>G (p.Met312Arg)
c.701T>G (p.Met234Arg)
c.1070T>G (p.Met357Arg)
1g.229431563A>GCA1442711ACTA1c.992T>C (p.Met331Thr)
c.935T>C (p.Met312Thr)
c.701T>C (p.Met234Thr)
c.1070T>C (p.Met357Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3
1g.229431563A>TCA345144492ACTA1c.992T>A (p.Met331Lys)
c.935T>A (p.Met312Lys)
c.701T>A (p.Met234Lys)
c.1070T>A (p.Met357Lys)
1g.229431564T>ACA345144496ACTA1c.991A>T (p.Met331Leu)
c.934A>T (p.Met312Leu)
c.700A>T (p.Met234Leu)
c.1069A>T (p.Met357Leu)
1g.229431564T>CCA345144500ACTA1c.991A>G (p.Met331Val)
c.934A>G (p.Met312Val)
c.700A>G (p.Met234Val)
c.1069A>G (p.Met357Val)
 ClinVar dbSNP
1g.229431564T>GCA345144502ACTA1c.991A>C (p.Met331Leu)
c.934A>C (p.Met312Leu)
c.700A>C (p.Met234Leu)
c.1069A>C (p.Met357Leu)
1g.229431564T=CA1226125380ACTA1c.991A= (p.Met331=)
c.934A= (p.Met312=)
c.700A= (p.Met234=)
c.1069A= (p.Met357=)
1g.229431565C>ACA345144509ACTA1c.991-1G>T (n.991-1G>T)
c.933G>T (p.Gln311His)
c.699G>T (p.Gln233His)
c.1068G>T (p.Gln356His)
 dbSNP gnomAD v2 gnomAD v4
1g.229431565C=CA1226125381ACTA1c.991-1G= (n.991-1G=)
c.933G= (p.Gln311=)
c.699G= (p.Gln233=)
c.1068G= (p.Gln356=)
1g.229431565C>GCA345144505ACTA1c.991-1G>C (n.991-1G>C)
c.933G>C (p.Gln311His)
c.699G>C (p.Gln233His)
c.1068G>C (p.Gln356His)
1g.229431565C>TCA423754805ACTA1c.991-1G>A (n.991-1G>A)
c.933G>A (p.Gln311=)
c.699G>A (p.Gln233=)
c.1068G>A (p.Gln356=)
1g.229431566T>ACA345144513ACTA1c.991-2A>T (n.991-2A>T)
c.932A>T (p.Gln311Leu)
c.698A>T (p.Gln233Leu)
c.1067A>T (p.Gln356Leu)
1g.229431566T>CCA345144516ACTA1c.991-2A>G (n.991-2A>G)
c.932A>G (p.Gln311Arg)
c.698A>G (p.Gln233Arg)
c.1067A>G (p.Gln356Arg)
 dbSNP
1g.229431566T>GCA345144518ACTA1c.991-2A>C (n.991-2A>C)
c.932A>C (p.Gln311Pro)
c.698A>C (p.Gln233Pro)
c.1067A>C (p.Gln356Pro)
1g.229431566T=CA1226125382ACTA1c.991-2A= (n.991-2A=)
c.932A= (p.Gln311=)
c.698A= (p.Gln233=)
c.1067A= (p.Gln356=)
1g.229431567G>ACA345144523ACTA1c.991-3C>T (n.991-3C>T)
c.931C>T (p.Gln311Ter)
c.697C>T (p.Gln233Ter)
c.1066C>T (p.Gln356Ter)
1g.229431567G>CCA345144526ACTA1c.991-3C>G (n.991-3C>G)
c.931C>G (p.Gln311Glu)
c.697C>G (p.Gln233Glu)
c.1066C>G (p.Gln356Glu)
1g.229431567G>TCA345144528ACTA1c.991-3C>A (n.991-3C>A)
c.931C>A (p.Gln311Lys)
c.697C>A (p.Gln233Lys)
c.1066C>A (p.Gln356Lys)
1g.229431568C>ACA345144531ACTA1c.991-4G>T (n.991-4G>T)
c.930G>T (p.Gln310His)
c.696G>T (p.Gln232His)
c.1065G>T (p.Gln355His)
1g.229431568C=CA1144093655ACTA1c.991-4G= (n.991-4G=)
c.930G= (p.Gln310=)
c.696G= (p.Gln232=)
c.1065G= (p.Gln355=)
1g.229431568C>GCA345144535ACTA1c.991-4G>C (n.991-4G>C)
c.930G>C (p.Gln310His)
c.696G>C (p.Gln232His)
c.1065G>C (p.Gln355His)
1g.229431568C>TCA1442712ACTA1c.991-4G>A (n.991-4G>A)
c.930G>A (p.Gln310=)
c.696G>A (p.Gln232=)
c.1065G>A (p.Gln355=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431569T>ACA345144540ACTA1c.991-5A>T (n.991-5A>T)
c.929A>T (p.Gln310Leu)
c.695A>T (p.Gln232Leu)
c.1064A>T (p.Gln355Leu)
 dbSNP gnomAD v2
1g.229431569T>CCA345144542ACTA1c.991-5A>G (n.991-5A>G)
c.929A>G (p.Gln310Arg)
c.695A>G (p.Gln232Arg)
c.1064A>G (p.Gln355Arg)
1g.229431569T>GCA345144545ACTA1c.991-5A>C (n.991-5A>C)
c.929A>C (p.Gln310Pro)
c.695A>C (p.Gln232Pro)
c.1064A>C (p.Gln355Pro)
1g.229431569T=CA1226125383ACTA1c.991-5A= (n.991-5A=)
c.929A= (p.Gln310=)
c.695A= (p.Gln232=)
c.1064A= (p.Gln355=)
1g.229431570G>ACA345144548ACTA1c.991-6C>T (n.991-6C>T)
c.928C>T (p.Gln310Ter)
c.694C>T (p.Gln232Ter)
c.1063C>T (p.Gln355Ter)
1g.229431570G>CCA345144547ACTA1c.991-6C>G (n.991-6C>G)
c.928C>G (p.Gln310Glu)
c.694C>G (p.Gln232Glu)
c.1063C>G (p.Gln355Glu)
1g.229431570G=CA1226125384ACTA1c.991-6C= (n.991-6C=)
c.928C= (p.Gln310=)
c.694C= (p.Gln232=)
c.1063C= (p.Gln355=)
1g.229431570G>TCA345144546ACTA1c.991-6C>A (n.991-6C>A)
c.928C>A (p.Gln310Lys)
c.694C>A (p.Gln232Lys)
c.1063C>A (p.Gln355Lys)
 dbSNP gnomAD v2
1g.229431571G>ACA423754810ACTA1c.991-7C>T (n.991-7C>T)
c.927C>T (p.Phe309=)
c.693C>T (p.Phe231=)
c.1062C>T (p.Phe354=)
1g.229431571G>CCA345144551ACTA1c.991-7C>G (n.991-7C>G)
c.927C>G (p.Phe309Leu)
c.693C>G (p.Phe231Leu)
c.1062C>G (p.Phe354Leu)
1g.229431571G>TCA345144549ACTA1c.991-7C>A (n.991-7C>A)
c.927C>A (p.Phe309Leu)
c.693C>A (p.Phe231Leu)
c.1062C>A (p.Phe354Leu)
1g.229431572A>CCA345144553ACTA1c.991-8T>G (n.991-8T>G)
c.926T>G (p.Phe309Cys)
c.692T>G (p.Phe231Cys)
c.1061T>G (p.Phe354Cys)
1g.229431572A>GCA345144556ACTA1c.991-8T>C (n.991-8T>C)
c.926T>C (p.Phe309Ser)
c.692T>C (p.Phe231Ser)
c.1061T>C (p.Phe354Ser)
 ClinVar
1g.229431572A>TCA345144560ACTA1c.991-8T>A (n.991-8T>A)
c.926T>A (p.Phe309Tyr)
c.692T>A (p.Phe231Tyr)
c.1061T>A (p.Phe354Tyr)
1g.229431573A>CCA345144564ACTA1c.991-9T>G (n.991-9T>G)
c.925T>G (p.Phe309Val)
c.691T>G (p.Phe231Val)
c.1060T>G (p.Phe354Val)
1g.229431573A>GCA345144566ACTA1c.991-9T>C (n.991-9T>C)
c.925T>C (p.Phe309Leu)
c.691T>C (p.Phe231Leu)
c.1060T>C (p.Phe354Leu)
 ClinVar dbSNP
1g.229431573A>TCA345144568ACTA1c.991-9T>A (n.991-9T>A)
c.925T>A (p.Phe309Ile)
c.691T>A (p.Phe231Ile)
c.1060T>A (p.Phe354Ile)
1g.229431576_229431592delCA2573132002ACTA1c.991-25_991-9del (n.991-25_991-9del)
c.909_925del (p.Ala304ProfsTer?)
c.675_691del (p.Ala226ProfsTer?)
c.1044_1060del (p.Ala349ProfsTer?)
 ClinVar dbSNP
1g.229431574G>ACA423754811ACTA1c.991-10C>T (n.991-10C>T)
c.924C>T (p.Thr308=)
c.690C>T (p.Thr230=)
c.1059C>T (p.Thr353=)
1g.229431574G>CCA423754812ACTA1c.991-10C>G (n.991-10C>G)
c.924C>G (p.Thr308=)
c.690C>G (p.Thr230=)
c.1059C>G (p.Thr353=)
1g.229431574G>TCA423754813ACTA1c.991-10C>A (n.991-10C>A)
c.924C>A (p.Thr308=)
c.690C>A (p.Thr230=)
c.1059C>A (p.Thr353=)
1g.229431575G>ACA345144571ACTA1c.991-11C>T (n.991-11C>T)
c.923C>T (p.Thr308Ile)
c.689C>T (p.Thr230Ile)
c.1058C>T (p.Thr353Ile)
1g.229431575G>CCA345144575ACTA1c.991-11C>G (n.991-11C>G)
c.923C>G (p.Thr308Ser)
c.689C>G (p.Thr230Ser)
c.1058C>G (p.Thr353Ser)
1g.229431575G>TCA345144577ACTA1c.991-11C>A (n.991-11C>A)
c.923C>A (p.Thr308Asn)
c.689C>A (p.Thr230Asn)
c.1058C>A (p.Thr353Asn)
1g.229431576T>ACA345144578ACTA1c.991-12A>T (n.991-12A>T)
c.922A>T (p.Thr308Ser)
c.688A>T (p.Thr230Ser)
c.1057A>T (p.Thr353Ser)
1g.229431576T>CCA345144580ACTA1c.991-12A>G (n.991-12A>G)
c.922A>G (p.Thr308Ala)
c.688A>G (p.Thr230Ala)
c.1057A>G (p.Thr353Ala)
 ClinVar dbSNP
1g.229431576T>GCA345144582ACTA1c.991-12A>C (n.991-12A>C)
c.922A>C (p.Thr308Pro)
c.688A>C (p.Thr230Pro)
c.1057A>C (p.Thr353Pro)
1g.229431576T=CA1226125385ACTA1c.991-12A= (n.991-12A=)
c.922A= (p.Thr308=)
c.688A= (p.Thr230=)
c.1057A= (p.Thr353=)
1g.229431577G>ACA423754815ACTA1c.991-13C>T (n.991-13C>T)
c.921C>T (p.Ser307=)
c.687C>T (p.Ser229=)
c.1056C>T (p.Ser352=)
 dbSNP gnomAD v4
1g.229431577G>CCA423754817ACTA1c.991-13C>G (n.991-13C>G)
c.921C>G (p.Ser307=)
c.687C>G (p.Ser229=)
c.1056C>G (p.Ser352=)
1g.229431577G=CA1226125386ACTA1c.991-13C= (n.991-13C=)
c.921C= (p.Ser307=)
c.687C= (p.Ser229=)
c.1056C= (p.Ser352=)
1g.229431577G>TCA423754816ACTA1c.991-13C>A (n.991-13C>A)
c.921C>A (p.Ser307=)
c.687C>A (p.Ser229=)
c.1056C>A (p.Ser352=)
1g.229431577_229431578insTTTTTTAATCA1013145097ACTA1c.991-14_991-13insATTAAAAAA (n.991-14_991-13insATTAAAAAA)
c.920_921insATTAAAAAA (p.Ser307_Thr308insLeuLysAsn)
c.686_687insATTAAAAAA (p.Ser229_Thr230insLeuLysAsn)
c.1055_1056insATTAAAAAA (p.Ser352_Thr353insLeuLysAsn)
 gnomAD v3 gnomAD v4
1g.229431578G>ACA345144589ACTA1c.991-14C>T (n.991-14C>T)
c.920C>T (p.Ser307Phe)
c.686C>T (p.Ser229Phe)
c.1055C>T (p.Ser352Phe)
 ClinVar COSMIC
1g.229431578G>CCA345144585ACTA1c.991-14C>G (n.991-14C>G)
c.920C>G (p.Ser307Cys)
c.686C>G (p.Ser229Cys)
c.1055C>G (p.Ser352Cys)
1g.229431578G>TCA345144588ACTA1c.991-14C>A (n.991-14C>A)
c.920C>A (p.Ser307Tyr)
c.686C>A (p.Ser229Tyr)
c.1055C>A (p.Ser352Tyr)
1g.229431579A=CA1226125387ACTA1c.991-15T= (n.991-15T=)
c.919T= (p.Ser307=)
c.685T= (p.Ser229=)
c.1054T= (p.Ser352=)
1g.229431579A>CCA345144593ACTA1c.991-15T>G (n.991-15T>G)
c.919T>G (p.Ser307Ala)
c.685T>G (p.Ser229Ala)
c.1054T>G (p.Ser352Ala)
1g.229431579A>GCA345144596ACTA1c.991-15T>C (n.991-15T>C)
c.919T>C (p.Ser307Pro)
c.685T>C (p.Ser229Pro)
c.1054T>C (p.Ser352Pro)
 ClinVar dbSNP
1g.229431579A>TCA345144598ACTA1c.991-15T>A (n.991-15T>A)
c.919T>A (p.Ser307Thr)
c.685T>A (p.Ser229Thr)
c.1054T>A (p.Ser352Thr)
1g.229431579_229431580insTACA1013145101ACTA1c.991-15_991-14insAT (n.991-15_991-14insAT)
c.919_920insAT (p.Ser307TyrfsTer?)
c.685_686insAT (p.Ser229TyrfsTer?)
c.1054_1055insAT (p.Ser352TyrfsTer?)
 gnomAD v3 gnomAD v4
1g.229431580C>ACA423754820ACTA1c.991-16G>T (n.991-16G>T)
c.918G>T (p.Leu306=)
c.684G>T (p.Leu228=)
c.1053G>T (p.Leu351=)
1g.229431580C=CA1226125388ACTA1c.991-16G= (n.991-16G=)
c.918G= (p.Leu306=)
c.684G= (p.Leu228=)
c.1053G= (p.Leu351=)
1g.229431580C>GCA423754818ACTA1c.991-16G>C (n.991-16G>C)
c.918G>C (p.Leu306=)
c.684G>C (p.Leu228=)
c.1053G>C (p.Leu351=)
 dbSNP
1g.229431580C>TCA423754819ACTA1c.991-16G>A (n.991-16G>A)
c.918G>A (p.Leu306=)
c.684G>A (p.Leu228=)
c.1053G>A (p.Leu351=)
1g.229431581A>CCA345144601ACTA1c.991-17T>G (n.991-17T>G)
c.917T>G (p.Leu306Arg)
c.683T>G (p.Leu228Arg)
c.1052T>G (p.Leu351Arg)
1g.229431581A>GCA345144603ACTA1c.991-17T>C (n.991-17T>C)
c.917T>C (p.Leu306Pro)
c.683T>C (p.Leu228Pro)
c.1052T>C (p.Leu351Pro)
 gnomAD v3 gnomAD v4
1g.229431581A>TCA345144607ACTA1c.991-17T>A (n.991-17T>A)
c.917T>A (p.Leu306Gln)
c.683T>A (p.Leu228Gln)
c.1052T>A (p.Leu351Gln)
1g.229431582G>ACA423754821ACTA1c.991-18C>T (n.991-18C>T)
c.916C>T (p.Leu306=)
c.682C>T (p.Leu228=)
c.1051C>T (p.Leu351=)
 dbSNP gnomAD v4
1g.229431582G>CCA345144609ACTA1c.991-18C>G (n.991-18C>G)
c.916C>G (p.Leu306Val)
c.682C>G (p.Leu228Val)
c.1051C>G (p.Leu351Val)
1g.229431582G=CA1226125389ACTA1c.991-18C= (n.991-18C=)
c.916C= (p.Leu306=)
c.682C= (p.Leu228=)
c.1051C= (p.Leu351=)
1g.229431582G>TCA345144612ACTA1c.991-18C>A (n.991-18C>A)
c.916C>A (p.Leu306Met)
c.682C>A (p.Leu228Met)
c.1051C>A (p.Leu351Met)
1g.229431583C>ACA1442713ACTA1c.991-19G>T (n.991-19G>T)
c.915G>T (p.Ser305=)
c.681G>T (p.Ser227=)
c.1050G>T (p.Ser350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431583C=CA1148416440ACTA1c.991-19G= (n.991-19G=)
c.915G= (p.Ser305=)
c.681G= (p.Ser227=)
c.1050G= (p.Ser350=)
1g.229431583C>GCA423754823ACTA1c.991-19G>C (n.991-19G>C)
c.915G>C (p.Ser305=)
c.681G>C (p.Ser227=)
c.1050G>C (p.Ser350=)
 dbSNP
1g.229431583C>TCA423754822ACTA1c.991-19G>A (n.991-19G>A)
c.915G>A (p.Ser305=)
c.681G>A (p.Ser227=)
c.1050G>A (p.Ser350=)
1g.229431584G>ACA345144616ACTA1c.991-20C>T (n.991-20C>T)
c.914C>T (p.Ser305Leu)
c.680C>T (p.Ser227Leu)
c.1049C>T (p.Ser350Leu)
 ClinVar dbSNP
1g.229431584G>CCA345144619ACTA1c.991-20C>G (n.991-20C>G)
c.914C>G (p.Ser305Trp)
c.680C>G (p.Ser227Trp)
c.1049C>G (p.Ser350Trp)
 ClinVar COSMIC
1g.229431584G>TCA345144622ACTA1c.991-20C>A (n.991-20C>A)
c.914C>A (p.Ser305Ter)
c.680C>A (p.Ser227Ter)
c.1049C>A (p.Ser350Ter)
1g.229431585A>CCA345144628ACTA1c.991-21T>G (n.991-21T>G)
c.913T>G (p.Ser305Ala)
c.679T>G (p.Ser227Ala)
c.1048T>G (p.Ser350Ala)
1g.229431585A>GCA345144631ACTA1c.991-21T>C (n.991-21T>C)
c.913T>C (p.Ser305Pro)
c.679T>C (p.Ser227Pro)
c.1048T>C (p.Ser350Pro)
1g.229431585A>TCA345144626ACTA1c.991-21T>A (n.991-21T>A)
c.913T>A (p.Ser305Thr)
c.679T>A (p.Ser227Thr)
c.1048T>A (p.Ser350Thr)
1g.229431586G>ACA423754824ACTA1c.991-22C>T (n.991-22C>T)
c.912C>T (p.Ala304=)
c.678C>T (p.Ala226=)
c.1047C>T (p.Ala349=)
 dbSNP
1g.229431586G>CCA423754825ACTA1c.991-22C>G (n.991-22C>G)
c.912C>G (p.Ala304=)
c.678C>G (p.Ala226=)
c.1047C>G (p.Ala349=)
1g.229431586G=CA1226125390ACTA1c.991-22C= (n.991-22C=)
c.912C= (p.Ala304=)
c.678C= (p.Ala226=)
c.1047C= (p.Ala349=)
1g.229431586G>TCA423754826ACTA1c.991-22C>A (n.991-22C>A)
c.912C>A (p.Ala304=)
c.678C>A (p.Ala226=)
c.1047C>A (p.Ala349=)
 dbSNP gnomAD v2
1g.229431586_229431587delCA1013145112ACTA1c.991-23_991-22del (n.991-23_991-22del)
c.911_912del (p.Ala304ValfsTer?)
c.677_678del (p.Ala226ValfsTer?)
c.1046_1047del (p.Ala349ValfsTer?)
 gnomAD v3 gnomAD v4
1g.229431587G>ACA345144633ACTA1c.991-23C>T (n.991-23C>T)
c.911C>T (p.Ala304Val)
c.677C>T (p.Ala226Val)
c.1046C>T (p.Ala349Val)
 ClinVar dbSNP
1g.229431587G>CCA345144639ACTA1c.991-23C>G (n.991-23C>G)
c.911C>G (p.Ala304Gly)
c.677C>G (p.Ala226Gly)
c.1046C>G (p.Ala349Gly)
1g.229431587G=CA1226125391ACTA1c.991-23C= (n.991-23C=)
c.911C= (p.Ala304=)
c.677C= (p.Ala226=)
c.1046C= (p.Ala349=)
1g.229431587G>TCA345144635ACTA1c.991-23C>A (n.991-23C>A)
c.911C>A (p.Ala304Asp)
c.677C>A (p.Ala226Asp)
c.1046C>A (p.Ala349Asp)
1g.229431588C>ACA345144642ACTA1c.991-24G>T (n.991-24G>T)
c.910G>T (p.Ala304Ser)
c.676G>T (p.Ala226Ser)
c.1045G>T (p.Ala349Ser)
1g.229431588C=CA1226125392ACTA1c.991-24G= (n.991-24G=)
c.910G= (p.Ala304=)
c.676G= (p.Ala226=)
c.1045G= (p.Ala349=)
1g.229431588C>GCA345144644ACTA1c.991-24G>C (n.991-24G>C)
c.910G>C (p.Ala304Pro)
c.676G>C (p.Ala226Pro)
c.1045G>C (p.Ala349Pro)
1g.229431588C>TCA345144647ACTA1c.991-24G>A (n.991-24G>A)
c.910G>A (p.Ala304Thr)
c.676G>A (p.Ala226Thr)
c.1045G>A (p.Ala349Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431589C>ACA423754827ACTA1c.991-25G>T (n.991-25G>T)
c.909G>T (p.Leu303=)
c.675G>T (p.Leu225=)
c.1044G>T (p.Leu348=)
 dbSNP
1g.229431589C=CA1226125393ACTA1c.991-25G= (n.991-25G=)
c.909G= (p.Leu303=)
c.675G= (p.Leu225=)
c.1044G= (p.Leu348=)
1g.229431589C>GCA423754828ACTA1c.991-25G>C (n.991-25G>C)
c.909G>C (p.Leu303=)
c.675G>C (p.Leu225=)
c.1044G>C (p.Leu348=)
1g.229431589C>TCA423754829ACTA1c.991-25G>A (n.991-25G>A)
c.909G>A (p.Leu303=)
c.675G>A (p.Leu225=)
c.1044G>A (p.Leu348=)
1g.229431590A>CCA345144650ACTA1c.991-26T>G (n.991-26T>G)
c.908T>G (p.Leu303Arg)
c.674T>G (p.Leu225Arg)
c.1043T>G (p.Leu348Arg)
1g.229431590A>GCA345144654ACTA1c.991-26T>C (n.991-26T>C)
c.908T>C (p.Leu303Pro)
c.674T>C (p.Leu225Pro)
c.1043T>C (p.Leu348Pro)
1g.229431590A>TCA345144656ACTA1c.991-26T>A (n.991-26T>A)
c.908T>A (p.Leu303Gln)
c.674T>A (p.Leu225Gln)
c.1043T>A (p.Leu348Gln)
 ClinVar dbSNP
1g.229431591G>ACA423754831ACTA1c.991-27C>T (n.991-27C>T)
c.907C>T (p.Leu303=)
c.673C>T (p.Leu225=)
c.1042C>T (p.Leu348=)
 dbSNP gnomAD v4
1g.229431591G>CCA345144659ACTA1c.991-27C>G (n.991-27C>G)
c.907C>G (p.Leu303Val)
c.673C>G (p.Leu225Val)
c.1042C>G (p.Leu348Val)
1g.229431591G=CA1226125394ACTA1c.991-27C= (n.991-27C=)
c.907C= (p.Leu303=)
c.673C= (p.Leu225=)
c.1042C= (p.Leu348=)
1g.229431591G>TCA345144661ACTA1c.991-27C>A (n.991-27C>A)
c.907C>A (p.Leu303Met)
c.673C>A (p.Leu225Met)
c.1042C>A (p.Leu348Met)
1g.229431591_229431598delCA1013145118ACTA1c.991-34_991-27del (n.991-34_991-27del)
c.900_907del (p.Ser301GlyfsTer?)
c.666_673del (p.Ser223GlyfsTer?)
c.1035_1042del (p.Ser346GlyfsTer?)
 gnomAD v3 gnomAD v4
1g.229431592G>ACA423754832ACTA1c.991-28C>T (n.991-28C>T)
c.906C>T (p.Ile302=)
c.672C>T (p.Ile224=)
c.1041C>T (p.Ile347=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.229431592G>CCA345144665ACTA1c.991-28C>G (n.991-28C>G)
c.906C>G (p.Ile302Met)
c.672C>G (p.Ile224Met)
c.1041C>G (p.Ile347Met)
1g.229431592G=CA1226125395ACTA1c.991-28C= (n.991-28C=)
c.906C= (p.Ile302=)
c.672C= (p.Ile224=)
c.1041C= (p.Ile347=)
1g.229431592G>TCA423754833ACTA1c.991-28C>A (n.991-28C>A)
c.906C>A (p.Ile302=)
c.672C>A (p.Ile224=)
c.1041C>A (p.Ile347=)
1g.229431593A>CCA345144669ACTA1c.991-29T>G (n.991-29T>G)
c.905T>G (p.Ile302Ser)
c.671T>G (p.Ile224Ser)
c.1040T>G (p.Ile347Ser)
1g.229431593A>GCA345144671ACTA1c.991-29T>C (n.991-29T>C)
c.905T>C (p.Ile302Thr)
c.671T>C (p.Ile224Thr)
c.1040T>C (p.Ile347Thr)
1g.229431593A>TCA345144674ACTA1c.991-29T>A (n.991-29T>A)
c.905T>A (p.Ile302Asn)
c.671T>A (p.Ile224Asn)
c.1040T>A (p.Ile347Asn)
1g.229431594T>ACA345144680ACTA1c.991-30A>T (n.991-30A>T)
c.904A>T (p.Ile302Phe)
c.670A>T (p.Ile224Phe)
c.1039A>T (p.Ile347Phe)
1g.229431594T>CCA345144684ACTA1c.991-30A>G (n.991-30A>G)
c.904A>G (p.Ile302Val)
c.670A>G (p.Ile224Val)
c.1039A>G (p.Ile347Val)
1g.229431594T>GCA345144683ACTA1c.991-30A>C (n.991-30A>C)
c.904A>C (p.Ile302Leu)
c.670A>C (p.Ile224Leu)
c.1039A>C (p.Ile347Leu)
1g.229431595G>ACA423754834ACTA1c.991-31C>T (n.991-31C>T)
c.903C>T (p.Ser301=)
c.669C>T (p.Ser223=)
c.1038C>T (p.Ser346=)
 gnomAD v4
1g.229431595G>CCA423754837ACTA1c.991-31C>G (n.991-31C>G)
c.903C>G (p.Ser301=)
c.669C>G (p.Ser223=)
c.1038C>G (p.Ser346=)
1g.229431595G>TCA423754836ACTA1c.991-31C>A (n.991-31C>A)
c.903C>A (p.Ser301=)
c.669C>A (p.Ser223=)
c.1038C>A (p.Ser346=)
1g.229431596G>ACA345144689ACTA1c.991-32C>T (n.991-32C>T)
c.902C>T (p.Ser301Phe)
c.668C>T (p.Ser223Phe)
c.1037C>T (p.Ser346Phe)
 COSMIC
1g.229431596G>CCA345144691ACTA1c.991-32C>G (n.991-32C>G)
c.902C>G (p.Ser301Cys)
c.668C>G (p.Ser223Cys)
c.1037C>G (p.Ser346Cys)
1g.229431596G>TCA345144693ACTA1c.991-32C>A (n.991-32C>A)
c.902C>A (p.Ser301Tyr)
c.668C>A (p.Ser223Tyr)
c.1037C>A (p.Ser346Tyr)
1g.229431597A>CCA345144699ACTA1c.991-33T>G (n.991-33T>G)
c.901T>G (p.Ser301Ala)
c.667T>G (p.Ser223Ala)
c.1036T>G (p.Ser346Ala)
1g.229431597A>GCA345144702ACTA1c.991-33T>C (n.991-33T>C)
c.901T>C (p.Ser301Pro)
c.667T>C (p.Ser223Pro)
c.1036T>C (p.Ser346Pro)
1g.229431597A>TCA345144705ACTA1c.991-33T>A (n.991-33T>A)
c.901T>A (p.Ser301Thr)
c.667T>A (p.Ser223Thr)
c.1036T>A (p.Ser346Thr)
1g.229431598G>ACA423754838ACTA1c.991-34C>T (n.991-34C>T)
c.900C>T (p.Gly300=)
c.666C>T (p.Gly222=)
c.1035C>T (p.Gly345=)
 dbSNP
1g.229431598G>CCA423754840ACTA1c.991-34C>G (n.991-34C>G)
c.900C>G (p.Gly300=)
c.666C>G (p.Gly222=)
c.1035C>G (p.Gly345=)
 dbSNP gnomAD v2
1g.229431598G=CA1226125396ACTA1c.991-34C= (n.991-34C=)
c.900C= (p.Gly300=)
c.666C= (p.Gly222=)
c.1035C= (p.Gly345=)
1g.229431598G>TCA423754839ACTA1c.991-34C>A (n.991-34C>A)
c.900C>A (p.Gly300=)
c.666C>A (p.Gly222=)
c.1035C>A (p.Gly345=)
1g.229431599C>ACA345144708ACTA1c.991-35G>T (n.991-35G>T)
c.899G>T (p.Gly300Val)
c.665G>T (p.Gly222Val)
c.1034G>T (p.Gly345Val)
1g.229431599C>GCA345144711ACTA1c.991-35G>C (n.991-35G>C)
c.899G>C (p.Gly300Ala)
c.665G>C (p.Gly222Ala)
c.1034G>C (p.Gly345Ala)
1g.229431599C>TCA345144714ACTA1c.991-35G>A (n.991-35G>A)
c.899G>A (p.Gly300Asp)
c.665G>A (p.Gly222Asp)
c.1034G>A (p.Gly345Asp)
 COSMIC
1g.229431600C>ACA345144722ACTA1c.991-36G>T (n.991-36G>T)
c.898G>T (p.Gly300Cys)
c.664G>T (p.Gly222Cys)
c.1033G>T (p.Gly345Cys)
1g.229431600C>GCA345144723ACTA1c.991-36G>C (n.991-36G>C)
c.898G>C (p.Gly300Arg)
c.664G>C (p.Gly222Arg)
c.1033G>C (p.Gly345Arg)
1g.229431600C>TCA345144718ACTA1c.991-36G>A (n.991-36G>A)
c.898G>A (p.Gly300Ser)
c.664G>A (p.Gly222Ser)
c.1033G>A (p.Gly345Ser)
 ClinVar gnomAD v4
1g.229431601G>ACA423754843ACTA1c.991-37C>T (n.991-37C>T)
c.897C>T (p.Gly299=)
c.663C>T (p.Gly221=)
c.1032C>T (p.Gly344=)
 dbSNP COSMIC
1g.229431601G>CCA423754842ACTA1c.991-37C>G (n.991-37C>G)
c.897C>G (p.Gly299=)
c.663C>G (p.Gly221=)
c.1032C>G (p.Gly344=)
1g.229431601G=CA1226125397ACTA1c.991-37C= (n.991-37C=)
c.897C= (p.Gly299=)
c.663C= (p.Gly221=)
c.1032C= (p.Gly344=)
1g.229431601G>TCA1442714ACTA1c.991-37C>A (n.991-37C>A)
c.897C>A (p.Gly299=)
c.663C>A (p.Gly221=)
c.1032C>A (p.Gly344=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431602C>ACA345144727ACTA1c.991-38G>T (n.991-38G>T)
c.896G>T (p.Gly299Val)
c.662G>T (p.Gly221Val)
c.1031G>T (p.Gly344Val)
1g.229431602C=CA1226125398ACTA1c.991-38G= (n.991-38G=)
c.896G= (p.Gly299=)
c.662G= (p.Gly221=)
c.1031G= (p.Gly344=)
1g.229431602C>GCA345144729ACTA1c.991-38G>C (n.991-38G>C)
c.896G>C (p.Gly299Ala)
c.662G>C (p.Gly221Ala)
c.1031G>C (p.Gly344Ala)
1g.229431602C>TCA345144733ACTA1c.991-38G>A (n.991-38G>A)
c.896G>A (p.Gly299Asp)
c.662G>A (p.Gly221Asp)
c.1031G>A (p.Gly344Asp)
 ClinVar dbSNP
1g.229431603delCA1013145126ACTA1c.991-38del (n.991-38del)
c.896del (p.Gly299AlafsTer?)
c.662del (p.Gly221AlafsTer?)
c.1031del (p.Gly344AlafsTer?)
 gnomAD v3 gnomAD v4
1g.229431603C>ACA345144736ACTA1c.991-39G>T (n.991-39G>T)
c.895G>T (p.Gly299Cys)
c.661G>T (p.Gly221Cys)
c.1030G>T (p.Gly344Cys)
 gnomAD v3 gnomAD v4
1g.229431603C>GCA345144738ACTA1c.991-39G>C (n.991-39G>C)
c.895G>C (p.Gly299Arg)
c.661G>C (p.Gly221Arg)
c.1030G>C (p.Gly344Arg)
 ClinVar dbSNP
1g.229431603C>TCA345144742ACTA1c.991-39G>A (n.991-39G>A)
c.895G>A (p.Gly299Ser)
c.661G>A (p.Gly221Ser)
c.1030G>A (p.Gly344Ser)
 ClinVar
1g.229431604G>ACA423754845ACTA1c.991-40C>T (n.991-40C>T)
c.894C>T (p.Ile298=)
c.660C>T (p.Ile220=)
c.1029C>T (p.Ile343=)
 dbSNP gnomAD v2 gnomAD v4
1g.229431604G>CCA345144745ACTA1c.991-40C>G (n.991-40C>G)
c.894C>G (p.Ile298Met)
c.660C>G (p.Ile220Met)
c.1029C>G (p.Ile343Met)
 ClinVar dbSNP
1g.229431604G=CA1226125399ACTA1c.991-40C= (n.991-40C=)
c.894C= (p.Ile298=)
c.660C= (p.Ile220=)
c.1029C= (p.Ile343=)
1g.229431604G>TCA423754844ACTA1c.991-40C>A (n.991-40C>A)
c.894C>A (p.Ile298=)
c.660C>A (p.Ile220=)
c.1029C>A (p.Ile343=)
 gnomAD v4
1g.229431605A>CCA345144746ACTA1c.991-41T>G (n.991-41T>G)
c.893T>G (p.Ile298Ser)
c.659T>G (p.Ile220Ser)
c.1028T>G (p.Ile343Ser)
1g.229431605A>GCA345144753ACTA1c.991-41T>C (n.991-41T>C)
c.893T>C (p.Ile298Thr)
c.659T>C (p.Ile220Thr)
c.1028T>C (p.Ile343Thr)
1g.229431605A>TCA345144765ACTA1c.991-41T>A (n.991-41T>A)
c.893T>A (p.Ile298Asn)
c.659T>A (p.Ile220Asn)
c.1028T>A (p.Ile343Asn)
1g.229431606T>ACA345144769ACTA1c.991-42A>T (n.991-42A>T)
c.892A>T (p.Ile298Phe)
c.658A>T (p.Ile220Phe)
c.1027A>T (p.Ile343Phe)
1g.229431606T>CCA345144772ACTA1c.991-42A>G (n.991-42A>G)
c.892A>G (p.Ile298Val)
c.658A>G (p.Ile220Val)
c.1027A>G (p.Ile343Val)
 ClinVar
1g.229431606T>GCA345144775ACTA1c.991-42A>C (n.991-42A>C)
c.892A>C (p.Ile298Leu)
c.658A>C (p.Ile220Leu)
c.1027A>C (p.Ile343Leu)
1g.229431607C>ACA345144779ACTA1c.991-43G>T (n.991-43G>T)
c.891G>T (p.Trp297Cys)
c.657G>T (p.Trp219Cys)
c.1026G>T (p.Trp342Cys)
1g.229431607C>GCA345144784ACTA1c.991-43G>C (n.991-43G>C)
c.891G>C (p.Trp297Cys)
c.657G>C (p.Trp219Cys)
c.1026G>C (p.Trp342Cys)
1g.229431607C>TCA345144782ACTA1c.991-43G>A (n.991-43G>A)
c.891G>A (p.Trp297Ter)
c.657G>A (p.Trp219Ter)
c.1026G>A (p.Trp342Ter)
1g.229431607_229431608insAACCACACCAAACACACCCAACA2748054878ACTA1c.991-44_991-43insTTGGGTGTGTTTGGTGTGGTT (n.991-44_991-43insTTGGGTGTGTTTGGTGTGGTT)
c.890_891insTTGGGTGTGTTTGGTGTGGTT (p.Trp297delinsCysTrpValCysLeuValTrpLeu)
c.656_657insTTGGGTGTGTTTGGTGTGGTT (p.Trp219delinsCysTrpValCysLeuValTrpLeu)
c.1025_1026insTTGGGTGTGTTTGGTGTGGTT (p.Trp342delinsCysTrpValCysLeuValTrpLeu)
1g.229431608C>ACA345144789ACTA1c.991-44G>T (n.991-44G>T)
c.890G>T (p.Trp297Leu)
c.656G>T (p.Trp219Leu)
c.1025G>T (p.Trp342Leu)
1g.229431608C>GCA345144791ACTA1c.991-44G>C (n.991-44G>C)
c.890G>C (p.Trp297Ser)
c.656G>C (p.Trp219Ser)
c.1025G>C (p.Trp342Ser)
1g.229431608C>TCA345144794ACTA1c.991-44G>A (n.991-44G>A)
c.890G>A (p.Trp297Ter)
c.656G>A (p.Trp219Ter)
c.1025G>A (p.Trp342Ter)
 gnomAD v3 gnomAD v4
1g.229431609A>CCA345144797ACTA1c.991-45T>G (n.991-45T>G)
c.889T>G (p.Trp297Gly)
c.655T>G (p.Trp219Gly)
c.1024T>G (p.Trp342Gly)
1g.229431609A>GCA345144805ACTA1c.991-45T>C (n.991-45T>C)
c.889T>C (p.Trp297Arg)
c.655T>C (p.Trp219Arg)
c.1024T>C (p.Trp342Arg)
 gnomAD v4
1g.229431609A>TCA345144807ACTA1c.991-45T>A (n.991-45T>A)
c.889T>A (p.Trp297Arg)
c.655T>A (p.Trp219Arg)
c.1024T>A (p.Trp342Arg)
1g.229431610C>ACA423754846ACTA1c.991-46G>T (n.991-46G>T)
c.888G>T (p.Val296=)
c.654G>T (p.Val218=)
c.1023G>T (p.Val341=)
 dbSNP gnomAD v2 gnomAD v4
1g.229431610C=CA1226125400ACTA1c.991-46G= (n.991-46G=)
c.888G= (p.Val296=)
c.654G= (p.Val218=)
c.1023G= (p.Val341=)
1g.229431610C>GCA423754847ACTA1c.991-46G>C (n.991-46G>C)
c.888G>C (p.Val296=)
c.654G>C (p.Val218=)
c.1023G>C (p.Val341=)
1g.229431610C>TCA423754848ACTA1c.991-46G>A (n.991-46G>A)
c.888G>A (p.Val296=)
c.654G>A (p.Val218=)
c.1023G>A (p.Val341=)
 dbSNP gnomAD v4
1g.229431611A>CCA345144808ACTA1c.991-47T>G (n.991-47T>G)
c.887T>G (p.Val296Gly)
c.653T>G (p.Val218Gly)
c.1022T>G (p.Val341Gly)
1g.229431611A>GCA345144809ACTA1c.991-47T>C (n.991-47T>C)
c.887T>C (p.Val296Ala)
c.653T>C (p.Val218Ala)
c.1022T>C (p.Val341Ala)
1g.229431611A>TCA345144810ACTA1c.991-47T>A (n.991-47T>A)
c.887T>A (p.Val296Glu)
c.653T>A (p.Val218Glu)
c.1022T>A (p.Val341Glu)
1g.229431612C>ACA345144812ACTA1c.991-48G>T (n.991-48G>T)
c.886G>T (p.Val296Leu)
c.652G>T (p.Val218Leu)
c.1021G>T (p.Val341Leu)
1g.229431612C=CA1226125401ACTA1c.991-48G= (n.991-48G=)
c.886G= (p.Val296=)
c.652G= (p.Val218=)
c.1021G= (p.Val341=)
1g.229431612C>GCA345144813ACTA1c.991-48G>C (n.991-48G>C)
c.886G>C (p.Val296Leu)
c.652G>C (p.Val218Leu)
c.1021G>C (p.Val341Leu)
1g.229431612C>TCA345144815ACTA1c.991-48G>A (n.991-48G>A)
c.886G>A (p.Val296Met)
c.652G>A (p.Val218Met)
c.1021G>A (p.Val341Met)
 dbSNP
1g.229431613C>ACA1442716ACTA1c.991-49G>T (n.991-49G>T)
c.885G>T (p.Ser295=)
c.651G>T (p.Ser217=)
c.1020G>T (p.Ser340=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431613C=CA1226125402ACTA1c.991-49G= (n.991-49G=)
c.885G= (p.Ser295=)
c.651G= (p.Ser217=)
c.1020G= (p.Ser340=)
1g.229431613C>GCA423754849ACTA1c.991-49G>C (n.991-49G>C)
c.885G>C (p.Ser295=)
c.651G>C (p.Ser217=)
c.1020G>C (p.Ser340=)
 dbSNP
1g.229431613C>TCA1442715ACTA1c.991-49G>A (n.991-49G>A)
c.885G>A (p.Ser295=)
c.651G>A (p.Ser217=)
c.1020G>A (p.Ser340=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431614G>ACA345144820ACTA1c.991-50C>T (n.991-50C>T)
c.884C>T (p.Ser295Leu)
c.650C>T (p.Ser217Leu)
c.1019C>T (p.Ser340Leu)
1g.229431614G>CCA345144824ACTA1c.991-50C>G (n.991-50C>G)
c.884C>G (p.Ser295Trp)
c.650C>G (p.Ser217Trp)
c.1019C>G (p.Ser340Trp)
1g.229431614G>TCA345144822ACTA1c.991-50C>A (n.991-50C>A)
c.884C>A (p.Ser295Ter)
c.650C>A (p.Ser217Ter)
c.1019C>A (p.Ser340Ter)
1g.229431615A>CCA345144826ACTA1c.991-51T>G (n.991-51T>G)
c.883T>G (p.Ser295Ala)
c.649T>G (p.Ser217Ala)
c.1018T>G (p.Ser340Ala)
 ClinVar
1g.229431615A>GCA345144839ACTA1c.991-51T>C (n.991-51T>C)
c.883T>C (p.Ser295Pro)
c.649T>C (p.Ser217Pro)
c.1018T>C (p.Ser340Pro)
1g.229431615A>TCA345144828ACTA1c.991-51T>A (n.991-51T>A)
c.883T>A (p.Ser295Thr)
c.649T>A (p.Ser217Thr)
c.1018T>A (p.Ser340Thr)
1g.229431616G>ACA1442717ACTA1c.991-52C>T (n.991-52C>T)
c.882C>T (p.Tyr294=)
c.648C>T (p.Tyr216=)
c.1017C>T (p.Tyr339=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431616G>CCA345144848ACTA1c.991-52C>G (n.991-52C>G)
c.882C>G (p.Tyr294Ter)
c.648C>G (p.Tyr216Ter)
c.1017C>G (p.Tyr339Ter)
1g.229431616G=CA1226125403ACTA1c.991-52C= (n.991-52C=)
c.882C= (p.Tyr294=)
c.648C= (p.Tyr216=)
c.1017C= (p.Tyr339=)
1g.229431616G>TCA345144847ACTA1c.991-52C>A (n.991-52C>A)
c.882C>A (p.Tyr294Ter)
c.648C>A (p.Tyr216Ter)
c.1017C>A (p.Tyr339Ter)
1g.229431617T>ACA345144849ACTA1c.991-53A>T (n.991-53A>T)
c.881A>T (p.Tyr294Phe)
c.647A>T (p.Tyr216Phe)
c.1016A>T (p.Tyr339Phe)
1g.229431617T>CCA345144851ACTA1c.991-53A>G (n.991-53A>G)
c.881A>G (p.Tyr294Cys)
c.647A>G (p.Tyr216Cys)
c.1016A>G (p.Tyr339Cys)
1g.229431617T>GCA345144850ACTA1c.991-53A>C (n.991-53A>C)
c.881A>C (p.Tyr294Ser)
c.647A>C (p.Tyr216Ser)
c.1016A>C (p.Tyr339Ser)
1g.229431618A>CCA345144853ACTA1c.991-54T>G (n.991-54T>G)
c.880T>G (p.Tyr294Asp)
c.646T>G (p.Tyr216Asp)
c.1015T>G (p.Tyr339Asp)
1g.229431618A>GCA345144854ACTA1c.991-54T>C (n.991-54T>C)
c.880T>C (p.Tyr294His)
c.646T>C (p.Tyr216His)
c.1015T>C (p.Tyr339His)
1g.229431618A>TCA345144858ACTA1c.991-54T>A (n.991-54T>A)
c.880T>A (p.Tyr294Asn)
c.646T>A (p.Tyr216Asn)
c.1015T>A (p.Tyr339Asn)
 ClinVar
1g.229431619T>ACA345144861ACTA1c.991-55A>T (n.991-55A>T)
c.879A>T (p.Lys293Asn)
c.645A>T (p.Lys215Asn)
c.1014A>T (p.Lys338Asn)
1g.229431619T>CCA423754850ACTA1c.991-55A>G (n.991-55A>G)
c.879A>G (p.Lys293=)
c.645A>G (p.Lys215=)
c.1014A>G (p.Lys338=)
 dbSNP
1g.229431619T>GCA345144865ACTA1c.991-55A>C (n.991-55A>C)
c.879A>C (p.Lys293Asn)
c.645A>C (p.Lys215Asn)
c.1014A>C (p.Lys338Asn)
 ClinVar dbSNP
1g.229431619T=CA1226125404ACTA1c.991-55A= (n.991-55A=)
c.879A= (p.Lys293=)
c.645A= (p.Lys215=)
c.1014A= (p.Lys338=)
1g.229431620T>ACA345144867ACTA1c.991-56A>T (n.991-56A>T)
c.878A>T (p.Lys293Ile)
c.644A>T (p.Lys215Ile)
c.1013A>T (p.Lys338Ile)
1g.229431620T>CCA345144870ACTA1c.991-56A>G (n.991-56A>G)
c.878A>G (p.Lys293Arg)
c.644A>G (p.Lys215Arg)
c.1013A>G (p.Lys338Arg)
1g.229431620T>GCA345144874ACTA1c.991-56A>C (n.991-56A>C)
c.878A>C (p.Lys293Thr)
c.644A>C (p.Lys215Thr)
c.1013A>C (p.Lys338Thr)
1g.229431621T>ACA345144878ACTA1c.991-57A>T (n.991-57A>T)
c.877A>T (p.Lys293Ter)
c.643A>T (p.Lys215Ter)
c.1012A>T (p.Lys338Ter)
1g.229431621T>CCA345144881ACTA1c.991-57A>G (n.991-57A>G)
c.877A>G (p.Lys293Glu)
c.643A>G (p.Lys215Glu)
c.1012A>G (p.Lys338Glu)
1g.229431621T>GCA345144883ACTA1c.991-57A>C (n.991-57A>C)
c.877A>C (p.Lys293Gln)
c.643A>C (p.Lys215Gln)
c.1012A>C (p.Lys338Gln)
1g.229431622G>ACA423754851ACTA1c.991-58C>T (n.991-58C>T)
c.876C>T (p.Arg292=)
c.642C>T (p.Arg214=)
c.1011C>T (p.Arg337=)
 dbSNP gnomAD v2 gnomAD v4
1g.229431622G>CCA423754852ACTA1c.991-58C>G (n.991-58C>G)
c.876C>G (p.Arg292=)
c.642C>G (p.Arg214=)
c.1011C>G (p.Arg337=)
1g.229431622G=CA1226125405ACTA1c.991-58C= (n.991-58C=)
c.876C= (p.Arg292=)
c.642C= (p.Arg214=)
c.1011C= (p.Arg337=)
1g.229431622G>TCA423754853ACTA1c.991-58C>A (n.991-58C>A)
c.876C>A (p.Arg292=)
c.642C>A (p.Arg214=)
c.1011C>A (p.Arg337=)
1g.229431623C>ACA345144892ACTA1c.991-59G>T (n.991-59G>T)
c.875G>T (p.Arg292Leu)
c.641G>T (p.Arg214Leu)
c.1010G>T (p.Arg337Leu)
1g.229431623C=CA1143486378ACTA1c.991-59G= (n.991-59G=)
c.875G= (p.Arg292=)
c.641G= (p.Arg214=)
c.1010G= (p.Arg337=)
1g.229431623C>GCA345144889ACTA1c.991-59G>C (n.991-59G>C)
c.875G>C (p.Arg292Pro)
c.641G>C (p.Arg214Pro)
c.1010G>C (p.Arg337Pro)
1g.229431623C>TCA38814755ACTA1c.991-59G>A (n.991-59G>A)
c.875G>A (p.Arg292His)
c.641G>A (p.Arg214His)
c.1010G>A (p.Arg337His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.229431624G>ACA345144893ACTA1c.991-60C>T (n.991-60C>T)
c.874C>T (p.Arg292Cys)
c.640C>T (p.Arg214Cys)
c.1009C>T (p.Arg337Cys)
1g.229431624G>CCA345144894ACTA1c.991-60C>G (n.991-60C>G)
c.874C>G (p.Arg292Gly)
c.640C>G (p.Arg214Gly)
c.1009C>G (p.Arg337Gly)
 gnomAD v4
1g.229431624G=CA1226125406ACTA1c.991-60C= (n.991-60C=)
c.874C= (p.Arg292=)
c.640C= (p.Arg214=)
c.1009C= (p.Arg337=)
1g.229431624G>TCA1442718ACTA1c.991-60C>A (n.991-60C>A)
c.874C>A (p.Arg292Ser)
c.640C>A (p.Arg214Ser)
c.1009C>A (p.Arg337Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431625C>ACA345144898ACTA1c.991-61G>T (n.991-61G>T)
c.873G>T (p.Glu291Asp)
c.639G>T (p.Glu213Asp)
c.1008G>T (p.Glu336Asp)
1g.229431625C=CA1226125407ACTA1c.991-61G= (n.991-61G=)
c.873G= (p.Glu291=)
c.639G= (p.Glu213=)
c.1008G= (p.Glu336=)
1g.229431625C>GCA345144901ACTA1c.991-61G>C (n.991-61G>C)
c.873G>C (p.Glu291Asp)
c.639G>C (p.Glu213Asp)
c.1008G>C (p.Glu336Asp)
 ClinVar
1g.229431625C>TCA423754857ACTA1c.991-61G>A (n.991-61G>A)
c.873G>A (p.Glu291=)
c.639G>A (p.Glu213=)
c.1008G>A (p.Glu336=)
 dbSNP gnomAD v2 gnomAD v4
1g.229431626T>ACA345144906ACTA1c.991-62A>T (n.991-62A>T)
c.872A>T (p.Glu291Val)
c.638A>T (p.Glu213Val)
c.1007A>T (p.Glu336Val)
1g.229431626T>CCA38814782ACTA1c.991-62A>G (n.991-62A>G)
c.872A>G (p.Glu291Gly)
c.638A>G (p.Glu213Gly)
c.1007A>G (p.Glu336Gly)
 dbSNP
1g.229431626T>GCA128033ACTA1c.991-62A>C (n.991-62A>C)
c.872A>C (p.Glu291Ala)
c.638A>C (p.Glu213Ala)
c.1007A>C (p.Glu336Ala)
 ClinVar dbSNP
1g.229431626T=CA1141581371ACTA1c.991-62A= (n.991-62A=)
c.872A= (p.Glu291=)
c.638A= (p.Glu213=)
c.1007A= (p.Glu336=)
1g.229431627C>ACA345144911ACTA1c.991-63G>T (n.991-63G>T)
c.871G>T (p.Glu291Ter)
c.637G>T (p.Glu213Ter)
c.1006G>T (p.Glu336Ter)
1g.229431627C>GCA345144912ACTA1c.991-63G>C (n.991-63G>C)
c.871G>C (p.Glu291Gln)
c.637G>C (p.Glu213Gln)
c.1006G>C (p.Glu336Gln)
1g.229431627C>TCA345144929ACTA1c.991-63G>A (n.991-63G>A)
c.871G>A (p.Glu291Lys)
c.637G>A (p.Glu213Lys)
c.1006G>A (p.Glu336Lys)
 COSMIC
1g.229431628delCA2739273919ACTA1c.991-63del (n.991-63del)
c.871del (p.Glu291SerfsTer?)
c.637del (p.Glu213SerfsTer?)
c.1006del (p.Glu336SerfsTer?)
 ClinVar
1g.229431628C>ACA423754858ACTA1c.991-64G>T (n.991-64G>T)
c.870G>T (p.Pro290=)
c.636G>T (p.Pro212=)
c.1005G>T (p.Pro335=)
 dbSNP
1g.229431628C=CA1226125408ACTA1c.991-64G= (n.991-64G=)
c.870G= (p.Pro290=)
c.636G= (p.Pro212=)
c.1005G= (p.Pro335=)
1g.229431628C>GCA423754859ACTA1c.991-64G>C (n.991-64G>C)
c.870G>C (p.Pro290=)
c.636G>C (p.Pro212=)
c.1005G>C (p.Pro335=)
1g.229431628C>TCA1442719ACTA1c.991-64G>A (n.991-64G>A)
c.870G>A (p.Pro290=)
c.636G>A (p.Pro212=)
c.1005G>A (p.Pro335=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431629G>ACA345144942ACTA1c.991-65C>T (n.991-65C>T)
c.869C>T (p.Pro290Leu)
c.635C>T (p.Pro212Leu)
c.1004C>T (p.Pro335Leu)
 ClinVar dbSNP
1g.229431629G>CCA345144937ACTA1c.991-65C>G (n.991-65C>G)
c.869C>G (p.Pro290Arg)
c.635C>G (p.Pro212Arg)
c.1004C>G (p.Pro335Arg)
 ClinVar dbSNP
1g.229431629G=CA1226125409ACTA1c.991-65C= (n.991-65C=)
c.869C= (p.Pro290=)
c.635C= (p.Pro212=)
c.1004C= (p.Pro335=)
1g.229431629G>TCA16042312ACTA1c.991-65C>A (n.991-65C>A)
c.869C>A (p.Pro290Gln)
c.635C>A (p.Pro212Gln)
c.1004C>A (p.Pro335Gln)
 ClinVar dbSNP
1g.229431630G>ACA345144947ACTA1c.991-66C>T (n.991-66C>T)
c.868C>T (p.Pro290Ser)
c.634C>T (p.Pro212Ser)
c.1003C>T (p.Pro335Ser)
1g.229431630G>CCA345144949ACTA1c.991-66C>G (n.991-66C>G)
c.868C>G (p.Pro290Ala)
c.634C>G (p.Pro212Ala)
c.1003C>G (p.Pro335Ala)
 ClinVar dbSNP
1g.229431630G=CA1226125410ACTA1c.991-66C= (n.991-66C=)
c.868C= (p.Pro290=)
c.634C= (p.Pro212=)
c.1003C= (p.Pro335=)
1g.229431630G>TCA345144958ACTA1c.991-66C>A (n.991-66C>A)
c.868C>A (p.Pro290Thr)
c.634C>A (p.Pro212Thr)
c.1003C>A (p.Pro335Thr)
1g.229431631C>ACA1442720ACTA1c.991-67G>T (n.991-67G>T)
c.867G>T (p.Pro289=)
c.633G>T (p.Pro211=)
c.1002G>T (p.Pro334=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.229431631C=CA1226125411ACTA1c.991-67G= (n.991-67G=)
c.867G= (p.Pro289=)
c.633G= (p.Pro211=)
c.1002G= (p.Pro334=)
1g.229431631C>GCA423754862ACTA1c.991-67G>C (n.991-67G>C)
c.867G>C (p.Pro289=)
c.633G>C (p.Pro211=)
c.1002G>C (p.Pro334=)
1g.229431631C>TCA423754864ACTA1c.991-67G>A (n.991-67G>A)
c.867G>A (p.Pro289=)
c.633G>A (p.Pro211=)
c.1002G>A (p.Pro334=)
 dbSNP
1g.229431632G>ACA345144967ACTA1c.991-68C>T (n.991-68C>T)
c.866C>T (p.Pro289Leu)
c.632C>T (p.Pro211Leu)
c.1001C>T (p.Pro334Leu)
 ClinVar dbSNP COSMIC
1g.229431632G>CCA345144971ACTA1c.991-68C>G (n.991-68C>G)
c.866C>G (p.Pro289Arg)
c.632C>G (p.Pro211Arg)
c.1001C>G (p.Pro334Arg)
 ClinVar dbSNP
1g.229431632G=CA1226125412ACTA1c.991-68C= (n.991-68C=)
c.866C= (p.Pro289=)
c.632C= (p.Pro211=)
c.1001C= (p.Pro334=)
1g.229431632G>TCA345144973ACTA1c.991-68C>A (n.991-68C>A)
c.866C>A (p.Pro289Gln)
c.632C>A (p.Pro211Gln)
c.1001C>A (p.Pro334Gln)
1g.229431633G>ACA341499ACTA1c.991-69C>T (n.991-69C>T)
c.865C>T (p.Pro289Ser)
c.631C>T (p.Pro211Ser)
c.1000C>T (p.Pro334Ser)
 ClinVar dbSNP
1g.229431633G>CCA345144978ACTA1c.991-69C>G (n.991-69C>G)
c.865C>G (p.Pro289Ala)
c.631C>G (p.Pro211Ala)
c.1000C>G (p.Pro334Ala)
1g.229431633G=CA1141581372ACTA1c.991-69C= (n.991-69C=)
c.865C= (p.Pro289=)
c.631C= (p.Pro211=)
c.1000C= (p.Pro334=)
1g.229431633G>TCA345144982ACTA1c.991-69C>A (n.991-69C>A)
c.865C>A (p.Pro289Thr)
c.631C>A (p.Pro211Thr)
c.1000C>A (p.Pro334Thr)
1g.229431634G>ACA423754865ACTA1c.991-70C>T (n.991-70C>T)
c.864C>T (p.Ala288=)
c.630C>T (p.Ala210=)
c.999C>T (p.Ala333=)
 dbSNP COSMIC
1g.229431634G>CCA423754867ACTA1c.991-70C>G (n.991-70C>G)
c.864C>G (p.Ala288=)
c.630C>G (p.Ala210=)
c.999C>G (p.Ala333=)
1g.229431634G=CA1226125413ACTA1c.991-70C= (n.991-70C=)
c.864C= (p.Ala288=)
c.630C= (p.Ala210=)
c.999C= (p.Ala333=)
1g.229431634G>TCA423754866ACTA1c.991-70C>A (n.991-70C>A)
c.864C>A (p.Ala288=)
c.630C>A (p.Ala210=)
c.999C>A (p.Ala333=)
1g.229431635G>ACA345144990ACTA1c.991-71C>T (n.991-71C>T)
c.863C>T (p.Ala288Val)
c.629C>T (p.Ala210Val)
c.998C>T (p.Ala333Val)
1g.229431635G>CCA345144984ACTA1c.991-71C>G (n.991-71C>G)
c.863C>G (p.Ala288Gly)
c.629C>G (p.Ala210Gly)
c.998C>G (p.Ala333Gly)
1g.229431635G>TCA345144988ACTA1c.991-71C>A (n.991-71C>A)
c.863C>A (p.Ala288Asp)
c.629C>A (p.Ala210Asp)
c.998C>A (p.Ala333Asp)
 COSMIC
1g.229431636C>ACA345144994ACTA1c.991-72G>T (n.991-72G>T)
c.862G>T (p.Ala288Ser)
c.628G>T (p.Ala210Ser)
c.997G>T (p.Ala333Ser)
1g.229431636C>GCA345144997ACTA1c.991-72G>C (n.991-72G>C)
c.862G>C (p.Ala288Pro)
c.628G>C (p.Ala210Pro)
c.997G>C (p.Ala333Pro)
1g.229431636C>TCA345145000ACTA1c.991-72G>A (n.991-72G>A)
c.862G>A (p.Ala288Thr)
c.628G>A (p.Ala210Thr)
c.997G>A (p.Ala333Thr)
1g.229431637G>ACA423754872ACTA1c.991-73C>T (n.991-73C>T)
c.861C>T (p.Ile287=)
c.627C>T (p.Ile209=)
c.996C>T (p.Ile332=)
1g.229431637G>CCA345145004ACTA1c.991-73C>G (n.991-73C>G)
c.861C>G (p.Ile287Met)
c.627C>G (p.Ile209Met)
c.996C>G (p.Ile332Met)
1g.229431637G=CA1140915877ACTA1c.991-73C= (n.991-73C=)
c.861C= (p.Ile287=)
c.627C= (p.Ile209=)
c.996C= (p.Ile332=)
1g.229431637G>TCA147051ACTA1c.991-73C>A (n.991-73C>A)
c.861C>A (p.Ile287=)
c.627C>A (p.Ile209=)
c.996C>A (p.Ile332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.229431638A>CCA345145010ACTA1c.991-74T>G (n.991-74T>G)
c.860T>G (p.Ile287Ser)
c.626T>G (p.Ile209Ser)
c.995T>G (p.Ile332Ser)
1g.229431638A>GCA345145012ACTA1c.991-74T>C (n.991-74T>C)
c.860T>C (p.Ile287Thr)
c.626T>C (p.Ile209Thr)
c.995T>C (p.Ile332Thr)
1g.229431638A>TCA345145014ACTA1c.991-74T>A (n.991-74T>A)
c.860T>A (p.Ile287Asn)
c.626T>A (p.Ile209Asn)
c.995T>A (p.Ile332Asn)
1g.229431639T>ACA345145019ACTA1c.991-75A>T (n.991-75A>T)
c.859A>T (p.Ile287Phe)
c.625A>T (p.Ile209Phe)
c.994A>T (p.Ile332Phe)
1g.229431639T>CCA345145022ACTA1c.991-75A>G (n.991-75A>G)
c.859A>G (p.Ile287Val)
c.625A>G (p.Ile209Val)
c.994A>G (p.Ile332Val)
 dbSNP gnomAD v4
1g.229431639T>GCA345145026ACTA1c.991-75A>C (n.991-75A>C)
c.859A>C (p.Ile287Leu)
c.625A>C (p.Ile209Leu)
c.994A>C (p.Ile332Leu)
1g.229431639T=CA1226125414ACTA1c.991-75A= (n.991-75A=)
c.859A= (p.Ile287=)
c.625A= (p.Ile209=)
c.994A= (p.Ile332=)
1g.229431640G>ACA423754875ACTA1c.991-76C>T (n.991-76C>T)
c.858C>T (p.Ile286=)
c.624C>T (p.Ile208=)
c.993C>T (p.Ile331=)
 dbSNP
1g.229431640G>CCA345145030ACTA1c.991-76C>G (n.991-76C>G)
c.858C>G (p.Ile286Met)
c.624C>G (p.Ile208Met)
c.993C>G (p.Ile331Met)
1g.229431640G=CA1226125415ACTA1c.991-76C= (n.991-76C=)
c.858C= (p.Ile286=)
c.624C= (p.Ile208=)
c.993C= (p.Ile331=)
1g.229431640G>TCA423754874ACTA1c.991-76C>A (n.991-76C>A)
c.858C>A (p.Ile286=)
c.624C>A (p.Ile208=)
c.993C>A (p.Ile331=)
1g.229431641A>CCA345145033ACTA1c.991-77T>G (n.991-77T>G)
c.857T>G (p.Ile286Ser)
c.623T>G (p.Ile208Ser)
c.992T>G (p.Ile331Ser)
1g.229431641A>GCA345145032ACTA1c.991-77T>C (n.991-77T>C)
c.857T>C (p.Ile286Thr)
c.623T>C (p.Ile208Thr)
c.992T>C (p.Ile331Thr)
1g.229431641A>TCA345145034ACTA1c.991-77T>A (n.991-77T>A)
c.857T>A (p.Ile286Asn)
c.623T>A (p.Ile208Asn)
c.992T>A (p.Ile331Asn)
 gnomAD v4
1g.229431642T>ACA345145037ACTA1c.991-78A>T (n.991-78A>T)
c.856A>T (p.Ile286Phe)
c.622A>T (p.Ile208Phe)
c.991A>T (p.Ile331Phe)
1g.229431642T>CCA345145038ACTA1c.991-78A>G (n.991-78A>G)
c.856A>G (p.Ile286Val)
c.622A>G (p.Ile208Val)
c.991A>G (p.Ile331Val)
1g.229431642T>GCA345145040ACTA1c.991-78A>C (n.991-78A>C)
c.856A>C (p.Ile286Leu)
c.622A>C (p.Ile208Leu)
c.991A>C (p.Ile331Leu)
1g.229431642_229431720delinsTCTGCAAGACAGCGCGTGAGGTGGGGAGACCTCACCCTGGAGCCCACCCCGCCGACAGCCCGCGCAGGCCACCACCCACCA1226125416ACTA1c.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA (n.990+1_991-78delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA)
c.855+1_856delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA
c.621+1_622delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA
c.990+1_991delinsGTGGGTGGTGGCCTGCGCGGGCTGTCGGCGGGGTGGGCTCCAGGGTGAGGTCTCCCCACCTCACGCGCTGTCTTGCAGA

Number of alleles fetched