Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.53973648G>ACA385104582HOTAIR,HOXC11c.407G>A (p.Gly136Asp)
n.59+1250C>T
12g.53973648G>CCA385104583HOTAIR,HOXC11c.407G>C (p.Gly136Ala)
n.59+1250C>G
12g.53973648G>TCA385104581HOTAIR,HOXC11c.407G>T (p.Gly136Val)
n.59+1250C>A
12g.53973649C>ACA480090742HOTAIR,HOXC11c.408C>A (p.Gly136=)
n.59+1249G>T
12g.53973649C=CA2037241060HOTAIR,HOXC11c.408C= (p.Gly136=)
n.59+1249G=
12g.53973649C>GCA480090743HOTAIR,HOXC11c.408C>G (p.Gly136=)
n.59+1249G>C
dbSNP gnomAD v3 gnomAD v4
12g.53973649C>TCA480090745HOTAIR,HOXC11c.408C>T (p.Gly136=)
n.59+1249G>A
gnomAD v4
12g.53973650T>ACA385104586HOTAIR,HOXC11c.409T>A (p.Phe137Ile)
n.59+1248A>T
12g.53973650T>CCA385104591HOTAIR,HOXC11c.409T>C (p.Phe137Leu)
n.59+1248A>G
12g.53973650T>GCA385104588HOTAIR,HOXC11c.409T>G (p.Phe137Val)
n.59+1248A>C
12g.53973651T>ACA385104594HOTAIR,HOXC11c.410T>A (p.Phe137Tyr)
n.59+1247A>T
12g.53973651T>CCA385104596HOTAIR,HOXC11c.410T>C (p.Phe137Ser)
n.59+1247A>G
gnomAD v4
12g.53973651T>GCA385104598HOTAIR,HOXC11c.410T>G (p.Phe137Cys)
n.59+1247A>C
12g.53973652C>ACA385104602HOTAIR,HOXC11c.411C>A (p.Phe137Leu)
n.59+1246G>T
12g.53973652C=CA2037241061HOTAIR,HOXC11c.411C= (p.Phe137=)
n.59+1246G=
12g.53973652C>GCA385104604HOTAIR,HOXC11c.411C>G (p.Phe137Leu)
n.59+1246G>C
12g.53973652C>TCA237397855HOTAIR,HOXC11c.411C>T (p.Phe137=)
n.59+1246G>A
dbSNP
12g.53973653T>ACA385104607HOTAIR,HOXC11c.412T>A (p.Tyr138Asn)
n.59+1245A>T
12g.53973653T>CCA385104610HOTAIR,HOXC11c.412T>C (p.Tyr138His)
n.59+1245A>G
12g.53973653T>GCA385104613HOTAIR,HOXC11c.412T>G (p.Tyr138Asp)
n.59+1245A>C
12g.53973654A>CCA385104624HOTAIR,HOXC11c.413A>C (p.Tyr138Ser)
n.59+1244T>G
12g.53973654A>GCA385104625HOTAIR,HOXC11c.413A>G (p.Tyr138Cys)
n.59+1244T>C
12g.53973654A>TCA385104627HOTAIR,HOXC11c.413A>T (p.Tyr138Phe)
n.59+1244T>A
12g.53973655C>ACA385104630HOTAIR,HOXC11c.414C>A (p.Tyr138Ter)
n.59+1243G>T
12g.53973655C>GCA385104632HOTAIR,HOXC11c.414C>G (p.Tyr138Ter)
n.59+1243G>C
12g.53973655C>TCA480090756HOTAIR,HOXC11c.414C>T (p.Tyr138=)
n.59+1243G>A
12g.53973656T>ACA385104635HOTAIR,HOXC11c.415T>A (p.Ser139Thr)
n.59+1242A>T
12g.53973656T>CCA385104636HOTAIR,HOXC11c.415T>C (p.Ser139Pro)
n.59+1242A>G
12g.53973656T>GCA385104638HOTAIR,HOXC11c.415T>G (p.Ser139Ala)
n.59+1242A>C
12g.53973657C>ACA385104641HOTAIR,HOXC11c.416C>A (p.Ser139Tyr)
n.59+1241G>T
dbSNP gnomAD v2 gnomAD v4
12g.53973657C=CA2037241064HOTAIR,HOXC11c.416C= (p.Ser139=)
n.59+1241G=
12g.53973657C>GCA385104644HOTAIR,HOXC11c.416C>G (p.Ser139Cys)
n.59+1241G>C
12g.53973657C>TCA385104646HOTAIR,HOXC11c.416C>T (p.Ser139Phe)
n.59+1241G>A
12g.53973658C>ACA480090763HOTAIR,HOXC11c.417C>A (p.Ser139=)
n.59+1240G>T
12g.53973658C=CA2037241065HOTAIR,HOXC11c.417C= (p.Ser139=)
n.59+1240G=
12g.53973658C>GCA480090765HOTAIR,HOXC11c.417C>G (p.Ser139=)
n.59+1240G>C
12g.53973658C>TCA480090764HOTAIR,HOXC11c.417C>T (p.Ser139=)
n.59+1240G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973659T>ACA385104650HOTAIR,HOXC11c.418T>A (p.Ser140Thr)
n.59+1239A>T
12g.53973659T>CCA385104652HOTAIR,HOXC11c.418T>C (p.Ser140Pro)
n.59+1239A>G
12g.53973659T>GCA385104654HOTAIR,HOXC11c.418T>G (p.Ser140Ala)
n.59+1239A>C
12g.53973660C>ACA385104658HOTAIR,HOXC11c.419C>A (p.Ser140Ter)
n.59+1238G>T
12g.53973660C=CA2037241066HOTAIR,HOXC11c.419C= (p.Ser140=)
n.59+1238G=
12g.53973660C>GCA385104660HOTAIR,HOXC11c.419C>G (p.Ser140Ter)
n.59+1238G>C
12g.53973660C>TCA385104662HOTAIR,HOXC11c.419C>T (p.Ser140Leu)
n.59+1238G>A
dbSNP
12g.53973661A=CA2037241067HOTAIR,HOXC11c.420A= (p.Ser140=)
n.59+1237T=
12g.53973661A>CCA480090769HOTAIR,HOXC11c.420A>C (p.Ser140=)
n.59+1237T>G
12g.53973661A>GCA6604234HOTAIR,HOXC11c.420A>G (p.Ser140=)
n.59+1237T>C
dbSNP ExAC gnomAD v3 gnomAD v4
12g.53973661A>TCA480090770HOTAIR,HOXC11c.420A>T (p.Ser140=)
n.59+1237T>A
dbSNP gnomAD v3 gnomAD v4
12g.53973662G>ACA385104674HOTAIR,HOXC11c.421G>A (p.Val141Ile)
n.59+1236C>T
12g.53973662G>CCA385104669HOTAIR,HOXC11c.421G>C (p.Val141Leu)
n.59+1236C>G
dbSNP
12g.53973662G=CA2037241068HOTAIR,HOXC11c.421G= (p.Val141=)
n.59+1236C=
12g.53973662G>TCA385104672HOTAIR,HOXC11c.421G>T (p.Val141Phe)
n.59+1236C>A
12g.53973663T>ACA385104677HOTAIR,HOXC11c.422T>A (p.Val141Asp)
n.59+1235A>T
12g.53973663T>CCA385104679HOTAIR,HOXC11c.422T>C (p.Val141Ala)
n.59+1235A>G
12g.53973663T>GCA385104682HOTAIR,HOXC11c.422T>G (p.Val141Gly)
n.59+1235A>C
12g.53973664C>ACA480090774HOTAIR,HOXC11c.423C>A (p.Val141=)
n.59+1234G>T
12g.53973664C>GCA480090775HOTAIR,HOXC11c.423C>G (p.Val141=)
n.59+1234G>C
12g.53973664C>TCA480090776HOTAIR,HOXC11c.423C>T (p.Val141=)
n.59+1234G>A
12g.53973667_53973669delCA2619096344HOTAIR,HOXC11c.426_428del (p.Asn142del)
n.59+1232_59+1234del
gnomAD v4
12g.53973665A=CA2037241069HOTAIR,HOXC11c.424A= (p.Asn142=)
n.59+1233T=
12g.53973665A>CCA385104684HOTAIR,HOXC11c.424A>C (p.Asn142His)
n.59+1233T>G
12g.53973665A>GCA385104686HOTAIR,HOXC11c.424A>G (p.Asn142Asp)
n.59+1233T>C
12g.53973665A>TCA6604235HOTAIR,HOXC11c.424A>T (p.Asn142Tyr)
n.59+1233T>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973666A=CA2037241070HOTAIR,HOXC11c.425A= (p.Asn142=)
n.59+1232T=
12g.53973666A>CCA385104689HOTAIR,HOXC11c.425A>C (p.Asn142Thr)
n.59+1232T>G
12g.53973666A>GCA237397882HOTAIR,HOXC11c.425A>G (p.Asn142Ser)
n.59+1232T>C
dbSNP
12g.53973666A>TCA385104693HOTAIR,HOXC11c.425A>T (p.Asn142Ile)
n.59+1232T>A
12g.53973667C>ACA385104697HOTAIR,HOXC11c.426C>A (p.Asn142Lys)
n.59+1231G>T
12g.53973667C=CA2037241071HOTAIR,HOXC11c.426C= (p.Asn142=)
n.59+1231G=
12g.53973667C>GCA385104700HOTAIR,HOXC11c.426C>G (p.Asn142Lys)
n.59+1231G>C
gnomAD v4
12g.53973667C>TCA237397883HOTAIR,HOXC11c.426C>T (p.Asn142=)
n.59+1231G>A
dbSNP gnomAD v4
12g.53973668A=CA2037241072HOTAIR,HOXC11c.427A= (p.Lys143=)
n.59+1230T=
12g.53973668A>CCA385104713HOTAIR,HOXC11c.427A>C (p.Lys143Gln)
n.59+1230T>G
dbSNP gnomAD v2
12g.53973668A>GCA385104712HOTAIR,HOXC11c.427A>G (p.Lys143Glu)
n.59+1230T>C
12g.53973668A>TCA385104709HOTAIR,HOXC11c.427A>T (p.Lys143Ter)
n.59+1230T>A
12g.53973669A=CA2037241073HOTAIR,HOXC11c.428A= (p.Lys143=)
n.59+1229T=
12g.53973669A>CCA385104716HOTAIR,HOXC11c.428A>C (p.Lys143Thr)
n.59+1229T>G
12g.53973669A>GCA385104720HOTAIR,HOXC11c.428A>G (p.Lys143Arg)
n.59+1229T>C
12g.53973669A>TCA6604236HOTAIR,HOXC11c.428A>T (p.Lys143Met)
n.59+1229T>A
dbSNP ExAC gnomAD v2
12g.53973670G>ACA480090778HOTAIR,HOXC11c.429G>A (p.Lys143=)
n.59+1228C>T
dbSNP
12g.53973670G>CCA385104725HOTAIR,HOXC11c.429G>C (p.Lys143Asn)
n.59+1228C>G
dbSNP gnomAD v2 gnomAD v4
12g.53973670G=CA2037241074HOTAIR,HOXC11c.429G= (p.Lys143=)
n.59+1228C=
12g.53973670G>TCA385104728HOTAIR,HOXC11c.429G>T (p.Lys143Asn)
n.59+1228C>A
12g.53973671A>CCA385104732HOTAIR,HOXC11c.430A>C (p.Asn144His)
n.59+1227T>G
12g.53973671A>GCA385104734HOTAIR,HOXC11c.430A>G (p.Asn144Asp)
n.59+1227T>C
12g.53973671A>TCA385104737HOTAIR,HOXC11c.430A>T (p.Asn144Tyr)
n.59+1227T>A
12g.53973672A=CA2037241075HOTAIR,HOXC11c.431A= (p.Asn144=)
n.59+1226T=
12g.53973672A>CCA385104741HOTAIR,HOXC11c.431A>C (p.Asn144Thr)
n.59+1226T>G
12g.53973672A>GCA385104742HOTAIR,HOXC11c.431A>G (p.Asn144Ser)
n.59+1226T>C
dbSNP gnomAD v3 gnomAD v4
12g.53973672A>TCA385104747HOTAIR,HOXC11c.431A>T (p.Asn144Ile)
n.59+1226T>A
12g.53973674_53973675insACCCAAACACACCCAACACACA2796041903HOTAIR,HOXC11c.433_434insACCCAAACACACCCAACACA (p.Ser145AsnfsTer?)
n.59+1226_59+1227insGTTGGGTGTGTTTGGGTTGT
12g.53973673C>ACA385104748HOTAIR,HOXC11c.432C>A (p.Asn144Lys)
n.59+1225G>T
dbSNP
12g.53973673C=CA2037241076HOTAIR,HOXC11c.432C= (p.Asn144=)
n.59+1225G=
12g.53973673C>GCA385104749HOTAIR,HOXC11c.432C>G (p.Asn144Lys)
n.59+1225G>C
12g.53973673C>TCA480090779HOTAIR,HOXC11c.432C>T (p.Asn144=)
n.59+1225G>A
12g.53973674_53973680delCA2796041904HOTAIR,HOXC11c.433_439del (p.Ser145CysfsTer?)
n.59+1219_59+1225del
12g.53973674A=CA2037241077HOTAIR,HOXC11c.433A= (p.Ser145=)
n.59+1224T=
12g.53973674A>CCA385104752HOTAIR,HOXC11c.433A>C (p.Ser145Arg)
n.59+1224T>G
dbSNP
12g.53973674A>GCA6604237HOTAIR,HOXC11c.433A>G (p.Ser145Gly)
n.59+1224T>C
dbSNP ExAC
12g.53973674A>TCA385104751HOTAIR,HOXC11c.433A>T (p.Ser145Cys)
n.59+1224T>A
dbSNP gnomAD v2 gnomAD v4
12g.53973675G>ACA385104755HOTAIR,HOXC11c.434G>A (p.Ser145Asn)
n.59+1223C>T
12g.53973675G>CCA385104760HOTAIR,HOXC11c.434G>C (p.Ser145Thr)
n.59+1223C>G
gnomAD v4
12g.53973675G>TCA385104757HOTAIR,HOXC11c.434G>T (p.Ser145Ile)
n.59+1223C>A
12g.53973675_53973680delCA2575177059HOTAIR,HOXC11c.434_439del (p.Ser145_Leu147delinsMet)
n.59+1218_59+1223del
12g.53973676C>ACA385104763HOTAIR,HOXC11c.435C>A (p.Ser145Arg)
n.59+1222G>T
gnomAD v4 COSMIC
12g.53973676C=CA2037241078HOTAIR,HOXC11c.435C= (p.Ser145=)
n.59+1222G=
12g.53973676C>GCA385104765HOTAIR,HOXC11c.435C>G (p.Ser145Arg)
n.59+1222G>C
dbSNP gnomAD v4
12g.53973676C>TCA480090780HOTAIR,HOXC11c.435C>T (p.Ser145=)
n.59+1222G>A
12g.53973677G>ACA385104768HOTAIR,HOXC11c.436G>A (p.Val146Ile)
n.59+1221C>T
gnomAD v4
12g.53973677G>CCA6604238HOTAIR,HOXC11c.436G>C (p.Val146Leu)
n.59+1221C>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973677G=CA2037241080HOTAIR,HOXC11c.436G= (p.Val146=)
n.59+1221C=
12g.53973677G>TCA385104772HOTAIR,HOXC11c.436G>T (p.Val146Phe)
n.59+1221C>A
12g.53973678T>ACA385104776HOTAIR,HOXC11c.437T>A (p.Val146Asp)
n.59+1220A>T
12g.53973678T>CCA385104780HOTAIR,HOXC11c.437T>C (p.Val146Ala)
n.59+1220A>G
dbSNP gnomAD v2 gnomAD v4
12g.53973678T>GCA385104783HOTAIR,HOXC11c.437T>G (p.Val146Gly)
n.59+1220A>C
12g.53973678T=CA2037241082HOTAIR,HOXC11c.437T= (p.Val146=)
n.59+1220A=
12g.53973679C>ACA480090781HOTAIR,HOXC11c.438C>A (p.Val146=)
n.59+1219G>T
gnomAD v4
12g.53973679C>GCA480090782HOTAIR,HOXC11c.438C>G (p.Val146=)
n.59+1219G>C
12g.53973679C>TCA480090783HOTAIR,HOXC11c.438C>T (p.Val146=)
n.59+1219G>A
gnomAD v4
12g.53973680C>ACA385104785HOTAIR,HOXC11c.439C>A (p.Leu147Met)
n.59+1218G>T
12g.53973680C=CA2037241083HOTAIR,HOXC11c.439C= (p.Leu147=)
n.59+1218G=
12g.53973680C>GCA385104788HOTAIR,HOXC11c.439C>G (p.Leu147Val)
n.59+1218G>C
12g.53973680C>TCA237397896HOTAIR,HOXC11c.439C>T (p.Leu147=)
n.59+1218G>A
dbSNP gnomAD v4
12g.53973681T>ACA385104796HOTAIR,HOXC11c.440T>A (p.Leu147Gln)
n.59+1217A>T
12g.53973681T>CCA385104792HOTAIR,HOXC11c.440T>C (p.Leu147Pro)
n.59+1217A>G
12g.53973681T>GCA385104790HOTAIR,HOXC11c.440T>G (p.Leu147Arg)
n.59+1217A>C
12g.53973682G>ACA480090784HOTAIR,HOXC11c.441G>A (p.Leu147=)
n.59+1216C>T
12g.53973682G>CCA480090785HOTAIR,HOXC11c.441G>C (p.Leu147=)
n.59+1216C>G
12g.53973682G>TCA480090786HOTAIR,HOXC11c.441G>T (p.Leu147=)
n.59+1216C>A
gnomAD v4
12g.53973683C>ACA385104799HOTAIR,HOXC11c.442C>A (p.Pro148Thr)
n.59+1215G>T
12g.53973683C>GCA385104802HOTAIR,HOXC11c.442C>G (p.Pro148Ala)
n.59+1215G>C
12g.53973683C>TCA385104805HOTAIR,HOXC11c.442C>T (p.Pro148Ser)
n.59+1215G>A
12g.53973684C>ACA385104806HOTAIR,HOXC11c.443C>A (p.Pro148His)
n.59+1214G>T
gnomAD v4 COSMIC
12g.53973684C=CA2037241084HOTAIR,HOXC11c.443C= (p.Pro148=)
n.59+1214G=
12g.53973684C>GCA385104808HOTAIR,HOXC11c.443C>G (p.Pro148Arg)
n.59+1214G>C
12g.53973684C>TCA6604239HOTAIR,HOXC11c.443C>T (p.Pro148Leu)
n.59+1214G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.53973685T>ACA480090787HOTAIR,HOXC11c.444T>A (p.Pro148=)
n.59+1213A>T
gnomAD v4
12g.53973685T>CCA480090788HOTAIR,HOXC11c.444T>C (p.Pro148=)
n.59+1213A>G
dbSNP gnomAD v2
12g.53973685T>GCA480090789HOTAIR,HOXC11c.444T>G (p.Pro148=)
n.59+1213A>C
12g.53973685T=CA2037241086HOTAIR,HOXC11c.444T= (p.Pro148=)
n.59+1213A=
12g.53973686C>ACA385104816HOTAIR,HOXC11c.445C>A (p.Gln149Lys)
n.59+1212G>T
12g.53973686C>GCA385104817HOTAIR,HOXC11c.445C>G (p.Gln149Glu)
n.59+1212G>C
12g.53973686C>TCA385104819HOTAIR,HOXC11c.445C>T (p.Gln149Ter)
n.59+1212G>A
12g.53973687A=CA2037241087HOTAIR,HOXC11c.446A= (p.Gln149=)
n.59+1211T=
12g.53973687A>CCA385104823HOTAIR,HOXC11c.446A>C (p.Gln149Pro)
n.59+1211T>G
12g.53973687A>GCA385104825HOTAIR,HOXC11c.446A>G (p.Gln149Arg)
n.59+1211T>C
12g.53973687A>TCA6604240HOTAIR,HOXC11c.446A>T (p.Gln149Leu)
n.59+1211T>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973688A>CCA385104832HOTAIR,HOXC11c.447A>C (p.Gln149His)
n.59+1210T>G
12g.53973688A>GCA480090790HOTAIR,HOXC11c.447A>G (p.Gln149=)
n.59+1210T>C
12g.53973688A>TCA385104830HOTAIR,HOXC11c.447A>T (p.Gln149His)
n.59+1210T>A
12g.53973689G>ACA385104836HOTAIR,HOXC11c.448G>A (p.Ala150Thr)
n.59+1209C>T
12g.53973689G>CCA385104837HOTAIR,HOXC11c.448G>C (p.Ala150Pro)
n.59+1209C>G
12g.53973689G>TCA385104839HOTAIR,HOXC11c.448G>T (p.Ala150Ser)
n.59+1209C>A
12g.53973690C>ACA385104841HOTAIR,HOXC11c.449C>A (p.Ala150Asp)
n.59+1208G>T
12g.53973690C=CA2037241088HOTAIR,HOXC11c.449C= (p.Ala150=)
n.59+1208G=
12g.53973690C>GCA385104844HOTAIR,HOXC11c.449C>G (p.Ala150Gly)
n.59+1208G>C
dbSNP gnomAD v4
12g.53973690C>TCA385104846HOTAIR,HOXC11c.449C>T (p.Ala150Val)
n.59+1208G>A
gnomAD v4
12g.53973690_53973702delinsCCTTCGACCGTTTCA2037241089HOTAIR,HOXC11c.449_461delinsCCTTCGACCGTTT (p.Ala150=)
n.59+1196_59+1208delinsAAACGGTCGAAGG
12g.53973691C>ACA480090791HOTAIR,HOXC11c.450C>A (p.Ala150=)
n.59+1207G>T
12g.53973691C=CA2037241090HOTAIR,HOXC11c.450C= (p.Ala150=)
n.59+1207G=
12g.53973691C>GCA480090792HOTAIR,HOXC11c.450C>G (p.Ala150=)
n.59+1207G>C
12g.53973691C>TCA480090793HOTAIR,HOXC11c.450C>T (p.Ala150=)
n.59+1207G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973698_53973709delCA605244821HOTAIR,HOXC11c.457_468del (p.Arg153_Asp156del)
n.59+1196_59+1207del
dbSNP gnomAD v2 gnomAD v4
12g.53973692T>ACA385104853HOTAIR,HOXC11c.451T>A (p.Phe151Ile)
n.59+1206A>T
12g.53973692T>CCA385104849HOTAIR,HOXC11c.451T>C (p.Phe151Leu)
n.59+1206A>G
12g.53973692T>GCA385104851HOTAIR,HOXC11c.451T>G (p.Phe151Val)
n.59+1206A>C
12g.53973693T>ACA385104855HOTAIR,HOXC11c.452T>A (p.Phe151Tyr)
n.59+1205A>T
12g.53973693T>CCA385104859HOTAIR,HOXC11c.452T>C (p.Phe151Ser)
n.59+1205A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973693T>GCA385104862HOTAIR,HOXC11c.452T>G (p.Phe151Cys)
n.59+1205A>C
12g.53973693T=CA2037241091HOTAIR,HOXC11c.452T= (p.Phe151=)
n.59+1205A=
12g.53973694C>ACA6604241HOTAIR,HOXC11c.453C>A (p.Phe151Leu)
n.59+1204G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973694C=CA2037241092HOTAIR,HOXC11c.453C= (p.Phe151=)
n.59+1204G=
12g.53973694C>GCA385104866HOTAIR,HOXC11c.453C>G (p.Phe151Leu)
n.59+1204G>C
12g.53973694C>TCA480090794HOTAIR,HOXC11c.453C>T (p.Phe151=)
n.59+1204G>A
COSMIC
12g.53973695G>ACA385104870HOTAIR,HOXC11c.454G>A (p.Asp152Asn)
n.59+1203C>T
COSMIC
12g.53973695G>CCA385104874HOTAIR,HOXC11c.454G>C (p.Asp152His)
n.59+1203C>G
12g.53973695G>TCA385104872HOTAIR,HOXC11c.454G>T (p.Asp152Tyr)
n.59+1203C>A
12g.53973696A=CA2037241093HOTAIR,HOXC11c.455A= (p.Asp152=)
n.59+1202T=
12g.53973696A>CCA385104877HOTAIR,HOXC11c.455A>C (p.Asp152Ala)
n.59+1202T>G
dbSNP
12g.53973696A>GCA385104880HOTAIR,HOXC11c.455A>G (p.Asp152Gly)
n.59+1202T>C
12g.53973696A>TCA385104882HOTAIR,HOXC11c.455A>T (p.Asp152Val)
n.59+1202T>A
12g.53973697C>ACA385104885HOTAIR,HOXC11c.456C>A (p.Asp152Glu)
n.59+1201G>T
12g.53973697C=CA2037241094HOTAIR,HOXC11c.456C= (p.Asp152=)
n.59+1201G=
12g.53973697C>GCA6604242HOTAIR,HOXC11c.456C>G (p.Asp152Glu)
n.59+1201G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973697C>TCA237397921HOTAIR,HOXC11c.456C>T (p.Asp152=)
n.59+1201G>A
dbSNP gnomAD v3 gnomAD v4
12g.53973698C>ACA385104886HOTAIR,HOXC11c.457C>A (p.Arg153Ser)
n.59+1200G>T
dbSNP gnomAD v4
12g.53973698C=CA2037241095HOTAIR,HOXC11c.457C= (p.Arg153=)
n.59+1200G=
12g.53973698C>GCA385104887HOTAIR,HOXC11c.457C>G (p.Arg153Gly)
n.59+1200G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973698C>TCA385104889HOTAIR,HOXC11c.457C>T (p.Arg153Cys)
n.59+1200G>A
gnomAD v4
12g.53973699G>ACA385104891HOTAIR,HOXC11c.458G>A (p.Arg153His)
n.59+1199C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973699G>CCA385104893HOTAIR,HOXC11c.458G>C (p.Arg153Pro)
n.59+1199C>G
12g.53973699G=CA2037241098HOTAIR,HOXC11c.458G= (p.Arg153=)
n.59+1199C=
12g.53973699G>TCA385104895HOTAIR,HOXC11c.458G>T (p.Arg153Leu)
n.59+1199C>A
12g.53973700T>ACA480090795HOTAIR,HOXC11c.459T>A (p.Arg153=)
n.59+1198A>T
12g.53973700T>CCA480090796HOTAIR,HOXC11c.459T>C (p.Arg153=)
n.59+1198A>G
12g.53973700T>GCA480090797HOTAIR,HOXC11c.459T>G (p.Arg153=)
n.59+1198A>C
12g.53973700_53973703delinsTTTCCA2037241100HOTAIR,HOXC11c.459_462delinsTTTC (p.Arg153=)
n.59+1195_59+1198delinsGAAA
12g.53973701T>ACA385104903HOTAIR,HOXC11c.460T>A (p.Phe154Ile)
n.59+1197A>T
12g.53973701T>CCA385104905HOTAIR,HOXC11c.460T>C (p.Phe154Leu)
n.59+1197A>G
12g.53973701T>GCA385104898HOTAIR,HOXC11c.460T>G (p.Phe154Val)
n.59+1197A>C
12g.53973704_53973706delCA6604243HOTAIR,HOXC11c.463_465del (p.Phe155del)
n.59+1195_59+1197del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973702T>ACA385104911HOTAIR,HOXC11c.461T>A (p.Phe154Tyr)
n.59+1196A>T
12g.53973702T>CCA385104908HOTAIR,HOXC11c.461T>C (p.Phe154Ser)
n.59+1196A>G
12g.53973702T>GCA385104913HOTAIR,HOXC11c.461T>G (p.Phe154Cys)
n.59+1196A>C
12g.53973703C>ACA385104919HOTAIR,HOXC11c.462C>A (p.Phe154Leu)
n.59+1195G>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.53973703C=CA2037241102HOTAIR,HOXC11c.462C= (p.Phe154=)
n.59+1195G=
12g.53973703C>GCA385104920HOTAIR,HOXC11c.462C>G (p.Phe154Leu)
n.59+1195G>C
12g.53973703C>TCA480090798HOTAIR,HOXC11c.462C>T (p.Phe154=)
n.59+1195G>A
gnomAD v4
12g.53973704T>ACA385104922HOTAIR,HOXC11c.463T>A (p.Phe155Ile)
n.59+1194A>T
12g.53973704T>CCA385104923HOTAIR,HOXC11c.463T>C (p.Phe155Leu)
n.59+1194A>G
12g.53973704T>GCA385104924HOTAIR,HOXC11c.463T>G (p.Phe155Val)
n.59+1194A>C
12g.53973705T>ACA385104927HOTAIR,HOXC11c.464T>A (p.Phe155Tyr)
n.59+1193A>T
12g.53973705T>CCA385104934HOTAIR,HOXC11c.464T>C (p.Phe155Ser)
n.59+1193A>G
12g.53973705T>GCA385104936HOTAIR,HOXC11c.464T>G (p.Phe155Cys)
n.59+1193A>C
12g.53973706C>ACA385104939HOTAIR,HOXC11c.465C>A (p.Phe155Leu)
n.59+1192G>T
12g.53973706C>GCA385104941HOTAIR,HOXC11c.465C>G (p.Phe155Leu)
n.59+1192G>C
12g.53973706C>TCA480090799HOTAIR,HOXC11c.465C>T (p.Phe155=)
n.59+1192G>A
gnomAD v4
12g.53973707G>ACA385104943HOTAIR,HOXC11c.466G>A (p.Asp156Asn)
n.59+1191C>T
gnomAD v4
12g.53973707G>CCA385104946HOTAIR,HOXC11c.466G>C (p.Asp156His)
n.59+1191C>G
12g.53973707G>TCA385104949HOTAIR,HOXC11c.466G>T (p.Asp156Tyr)
n.59+1191C>A
12g.53973708A>CCA385104951HOTAIR,HOXC11c.467A>C (p.Asp156Ala)
n.59+1190T>G
12g.53973708A>GCA385104953HOTAIR,HOXC11c.467A>G (p.Asp156Gly)
n.59+1190T>C
12g.53973708A>TCA385104956HOTAIR,HOXC11c.467A>T (p.Asp156Val)
n.59+1190T>A
12g.53973709C>ACA385104966HOTAIR,HOXC11c.468C>A (p.Asp156Glu)
n.59+1189G>T
12g.53973709C>GCA385104958HOTAIR,HOXC11c.468C>G (p.Asp156Glu)
n.59+1189G>C
12g.53973709C>TCA480090800HOTAIR,HOXC11c.468C>T (p.Asp156=)
n.59+1189G>A
12g.53973710A>CCA385104968HOTAIR,HOXC11c.469A>C (p.Asn157His)
n.59+1188T>G
12g.53973710A>GCA385104972HOTAIR,HOXC11c.469A>G (p.Asn157Asp)
n.59+1188T>C
12g.53973710A>TCA385104974HOTAIR,HOXC11c.469A>T (p.Asn157Tyr)
n.59+1188T>A
12g.53973711A>CCA385104977HOTAIR,HOXC11c.470A>C (p.Asn157Thr)
n.59+1187T>G
12g.53973711A>GCA385104979HOTAIR,HOXC11c.470A>G (p.Asn157Ser)
n.59+1187T>C
12g.53973711A>TCA385104982HOTAIR,HOXC11c.470A>T (p.Asn157Ile)
n.59+1187T>A
12g.53973712C>ACA6604244HOTAIR,HOXC11c.471C>A (p.Asn157Lys)
n.59+1186G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973712C=CA2037241103HOTAIR,HOXC11c.471C= (p.Asn157=)
n.59+1186G=
12g.53973712C>GCA6604245HOTAIR,HOXC11c.471C>G (p.Asn157Lys)
n.59+1186G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973712C>TCA480090801HOTAIR,HOXC11c.471C>T (p.Asn157=)
n.59+1186G>A
gnomAD v4
12g.53973713G>ACA385104988HOTAIR,HOXC11c.472G>A (p.Ala158Thr)
n.59+1185C>T
dbSNP gnomAD v2
12g.53973713G>CCA385104991HOTAIR,HOXC11c.472G>C (p.Ala158Pro)
n.59+1185C>G
12g.53973713G=CA2037241105HOTAIR,HOXC11c.472G= (p.Ala158=)
n.59+1185C=
12g.53973713G>TCA385104994HOTAIR,HOXC11c.472G>T (p.Ala158Ser)
n.59+1185C>A
12g.53973714C>ACA385104997HOTAIR,HOXC11c.473C>A (p.Ala158Asp)
n.59+1184G>T
dbSNP
12g.53973714C=CA2037241107HOTAIR,HOXC11c.473C= (p.Ala158=)
n.59+1184G=
12g.53973714C>GCA385104999HOTAIR,HOXC11c.473C>G (p.Ala158Gly)
n.59+1184G>C
12g.53973714C>TCA385105002HOTAIR,HOXC11c.473C>T (p.Ala158Val)
n.59+1184G>A
12g.53973715C>ACA480090802HOTAIR,HOXC11c.474C>A (p.Ala158=)
n.59+1183G>T
12g.53973715C>GCA480090804HOTAIR,HOXC11c.474C>G (p.Ala158=)
n.59+1183G>C
12g.53973715C>TCA480090803HOTAIR,HOXC11c.474C>T (p.Ala158=)
n.59+1183G>A
gnomAD v4 COSMIC
12g.53973716T>ACA385105004HOTAIR,HOXC11c.475T>A (p.Tyr159Asn)
n.59+1182A>T
12g.53973716T>CCA385105010HOTAIR,HOXC11c.475T>C (p.Tyr159His)
n.59+1182A>G
12g.53973716T>GCA385105007HOTAIR,HOXC11c.475T>G (p.Tyr159Asp)
n.59+1182A>C
12g.53973717A>CCA385105015HOTAIR,HOXC11c.476A>C (p.Tyr159Ser)
n.59+1181T>G
12g.53973717A>GCA385105017HOTAIR,HOXC11c.476A>G (p.Tyr159Cys)
n.59+1181T>C
gnomAD v4
12g.53973717A>TCA385105020HOTAIR,HOXC11c.476A>T (p.Tyr159Phe)
n.59+1181T>A
gnomAD v4
12g.53973718C>ACA385105023HOTAIR,HOXC11c.477C>A (p.Tyr159Ter)
n.59+1180G>T
12g.53973718C=CA2037241108HOTAIR,HOXC11c.477C= (p.Tyr159=)
n.59+1180G=
12g.53973718C>GCA385105025HOTAIR,HOXC11c.477C>G (p.Tyr159Ter)
n.59+1180G>C
12g.53973718C>TCA480090805HOTAIR,HOXC11c.477C>T (p.Tyr159=)
n.59+1180G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973719T>ACA385105029HOTAIR,HOXC11c.478T>A (p.Cys160Ser)
n.59+1179A>T
12g.53973719T>CCA385105031HOTAIR,HOXC11c.478T>C (p.Cys160Arg)
n.59+1179A>G
12g.53973719T>GCA385105034HOTAIR,HOXC11c.478T>G (p.Cys160Gly)
n.59+1179A>C
12g.53973720G>ACA6604246HOTAIR,HOXC11c.479G>A (p.Cys160Tyr)
n.59+1178C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973720G>CCA385105040HOTAIR,HOXC11c.479G>C (p.Cys160Ser)
n.59+1178C>G
12g.53973720G=CA2037241110HOTAIR,HOXC11c.479G= (p.Cys160=)
n.59+1178C=
12g.53973720G>TCA385105043HOTAIR,HOXC11c.479G>T (p.Cys160Phe)
n.59+1178C>A
12g.53973721C>ACA385105046HOTAIR,HOXC11c.480C>A (p.Cys160Ter)
n.59+1177G>T
12g.53973721C=CA2037241111HOTAIR,HOXC11c.480C= (p.Cys160=)
n.59+1177G=
12g.53973721C>GCA385105048HOTAIR,HOXC11c.480C>G (p.Cys160Trp)
n.59+1177G>C
12g.53973721C>TCA480090806HOTAIR,HOXC11c.480C>T (p.Cys160=)
n.59+1177G>A
dbSNP gnomAD v2
12g.53973722G>ACA385105050HOTAIR,HOXC11c.481G>A (p.Gly161Ser)
n.59+1176C>T
dbSNP gnomAD v3 gnomAD v4
12g.53973722G>CCA385105054HOTAIR,HOXC11c.481G>C (p.Gly161Arg)
n.59+1176C>G
12g.53973722G=CA2037241113HOTAIR,HOXC11c.481G= (p.Gly161=)
n.59+1176C=
12g.53973722G>TCA385105051HOTAIR,HOXC11c.481G>T (p.Gly161Cys)
n.59+1176C>A
12g.53973723G>ACA385105057HOTAIR,HOXC11c.482G>A (p.Gly161Asp)
n.59+1175C>T
12g.53973723G>CCA385105058HOTAIR,HOXC11c.482G>C (p.Gly161Ala)
n.59+1175C>G
12g.53973723G>TCA385105061HOTAIR,HOXC11c.482G>T (p.Gly161Val)
n.59+1175C>A
12g.53973724T>ACA480090807HOTAIR,HOXC11c.483T>A (p.Gly161=)
n.59+1174A>T
12g.53973724T>CCA480090808HOTAIR,HOXC11c.483T>C (p.Gly161=)
n.59+1174A>G
gnomAD v4
12g.53973724T>GCA480090809HOTAIR,HOXC11c.483T>G (p.Gly161=)
n.59+1174A>C
12g.53973725G>ACA385105064HOTAIR,HOXC11c.484G>A (p.Gly162Ser)
n.59+1173C>T
12g.53973725G>CCA385105066HOTAIR,HOXC11c.484G>C (p.Gly162Arg)
n.59+1173C>G
12g.53973725G>TCA385105068HOTAIR,HOXC11c.484G>T (p.Gly162Cys)
n.59+1173C>A
12g.53973726G>ACA385105072HOTAIR,HOXC11c.485G>A (p.Gly162Asp)
n.59+1172C>T
gnomAD v4
12g.53973726G>CCA385105074HOTAIR,HOXC11c.485G>C (p.Gly162Ala)
n.59+1172C>G
12g.53973726G>TCA385105076HOTAIR,HOXC11c.485G>T (p.Gly162Val)
n.59+1172C>A
gnomAD v4
12g.53973727C>ACA480090810HOTAIR,HOXC11c.486C>A (p.Gly162=)
n.59+1171G>T
gnomAD v4
12g.53973727C=CA2037241115HOTAIR,HOXC11c.486C= (p.Gly162=)
n.59+1171G=
12g.53973727C>GCA480090811HOTAIR,HOXC11c.486C>G (p.Gly162=)
n.59+1171G>C
gnomAD v4
12g.53973727C>TCA6604247HOTAIR,HOXC11c.486C>T (p.Gly162=)
n.59+1171G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973728G>ACA237397952HOTAIR,HOXC11c.487G>A (p.Gly163Ser)
n.59+1170C>T
dbSNP
12g.53973728G>CCA6604248HOTAIR,HOXC11c.487G>C (p.Gly163Arg)
n.59+1170C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973728G=CA2037241116HOTAIR,HOXC11c.487G= (p.Gly163=)
n.59+1170C=
12g.53973728G>TCA385105081HOTAIR,HOXC11c.487G>T (p.Gly163Cys)
n.59+1170C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.53973729G>ACA385105095HOTAIR,HOXC11c.488G>A (p.Gly163Asp)
n.59+1169C>T
12g.53973729G>CCA385105101HOTAIR,HOXC11c.488G>C (p.Gly163Ala)
n.59+1169C>G
12g.53973729G>TCA385105098HOTAIR,HOXC11c.488G>T (p.Gly163Val)
n.59+1169C>A
12g.53973730C>ACA6604249HOTAIR,HOXC11c.489C>A (p.Gly163=)
n.59+1168G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973730C=CA2037241119HOTAIR,HOXC11c.489C= (p.Gly163=)
n.59+1168G=
12g.53973730C>GCA480090814HOTAIR,HOXC11c.489C>G (p.Gly163=)
n.59+1168G>C
12g.53973730C>TCA480090813HOTAIR,HOXC11c.489C>T (p.Gly163=)
n.59+1168G>A
12g.53973730_53973731insTCCTTTCA2796041905HOTAIR,HOXC11c.489_490insTCCTTT (p.Gly163_Asp164insSerPhe)
n.59+1167_59+1168insAAAGGA
12g.53973731G>ACA385105108HOTAIR,HOXC11c.490G>A (p.Asp164Asn)
n.59+1167C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973731G>CCA385105111HOTAIR,HOXC11c.490G>C (p.Asp164His)
n.59+1167C>G
gnomAD v4
12g.53973731G=CA2037241120HOTAIR,HOXC11c.490G= (p.Asp164=)
n.59+1167C=
12g.53973731G>TCA385105113HOTAIR,HOXC11c.490G>T (p.Asp164Tyr)
n.59+1167C>A
12g.53973732A=CA2037241121HOTAIR,HOXC11c.491A= (p.Asp164=)
n.59+1166T=
12g.53973732A>CCA6604250HOTAIR,HOXC11c.491A>C (p.Asp164Ala)
n.59+1166T>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973732A>GCA385105116HOTAIR,HOXC11c.491A>G (p.Asp164Gly)
n.59+1166T>C
dbSNP
12g.53973732A>TCA385105117HOTAIR,HOXC11c.491A>T (p.Asp164Val)
n.59+1166T>A
12g.53973733C>ACA385105118HOTAIR,HOXC11c.492C>A (p.Asp164Glu)
n.59+1165G>T
12g.53973733C=CA2037241122HOTAIR,HOXC11c.492C= (p.Asp164=)
n.59+1165G=
12g.53973733C>GCA385105119HOTAIR,HOXC11c.492C>G (p.Asp164Glu)
n.59+1165G>C
12g.53973733C>TCA6604251HOTAIR,HOXC11c.492C>T (p.Asp164=)
n.59+1165G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973734C>ACA385105128HOTAIR,HOXC11c.493C>A (p.Pro165Thr)
n.59+1164G>T
12g.53973734C=CA2037241123HOTAIR,HOXC11c.493C= (p.Pro165=)
n.59+1164G=
12g.53973734C>GCA385105126HOTAIR,HOXC11c.493C>G (p.Pro165Ala)
n.59+1164G>C
dbSNP
12g.53973734C>TCA385105124HOTAIR,HOXC11c.493C>T (p.Pro165Ser)
n.59+1164G>A
12g.53973735C>ACA385105130HOTAIR,HOXC11c.494C>A (p.Pro165Gln)
n.59+1163G>T
gnomAD v4
12g.53973735C>GCA385105131HOTAIR,HOXC11c.494C>G (p.Pro165Arg)
n.59+1163G>C
12g.53973735C>TCA385105133HOTAIR,HOXC11c.494C>T (p.Pro165Leu)
n.59+1163G>A
gnomAD v4
12g.53973736G>ACA6604253HOTAIR,HOXC11c.495G>A (p.Pro165=)
n.59+1162C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973736G>CCA6604252HOTAIR,HOXC11c.495G>C (p.Pro165=)
n.59+1162C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973736G=CA2037241126HOTAIR,HOXC11c.495G= (p.Pro165=)
n.59+1162C=
12g.53973736G>TCA480090816HOTAIR,HOXC11c.495G>T (p.Pro165=)
n.59+1162C>A
12g.53973737C>ACA385105139HOTAIR,HOXC11c.496C>A (p.Pro166Thr)
n.59+1161G>T
12g.53973737C>GCA385105140HOTAIR,HOXC11c.496C>G (p.Pro166Ala)
n.59+1161G>C
12g.53973737C>TCA385105144HOTAIR,HOXC11c.496C>T (p.Pro166Ser)
n.59+1161G>A
12g.53973738C>ACA385105147HOTAIR,HOXC11c.497C>A (p.Pro166His)
n.59+1160G>T
12g.53973738C=CA2037241127HOTAIR,HOXC11c.497C= (p.Pro166=)
n.59+1160G=
12g.53973738C>GCA385105149HOTAIR,HOXC11c.497C>G (p.Pro166Arg)
n.59+1160G>C
dbSNP
12g.53973738C>TCA385105152HOTAIR,HOXC11c.497C>T (p.Pro166Leu)
n.59+1160G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973739C>ACA6604254HOTAIR,HOXC11c.498C>A (p.Pro166=)
n.59+1159G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973739C=CA2037241129HOTAIR,HOXC11c.498C= (p.Pro166=)
n.59+1159G=
12g.53973739C>GCA480090817HOTAIR,HOXC11c.498C>G (p.Pro166=)
n.59+1159G>C
12g.53973739C>TCA480090818HOTAIR,HOXC11c.498C>T (p.Pro166=)
n.59+1159G>A
gnomAD v4 COSMIC
12g.53973740G>ACA385105160HOTAIR,HOXC11c.499G>A (p.Ala167Thr)
n.59+1158C>T
dbSNP gnomAD v2 gnomAD v4
12g.53973740G>CCA385105163HOTAIR,HOXC11c.499G>C (p.Ala167Pro)
n.59+1158C>G
12g.53973740G=CA2037241130HOTAIR,HOXC11c.499G= (p.Ala167=)
n.59+1158C=
12g.53973740G>TCA385105158HOTAIR,HOXC11c.499G>T (p.Ala167Ser)
n.59+1158C>A
dbSNP gnomAD v3 gnomAD v4
12g.53973741C>ACA385105167HOTAIR,HOXC11c.500C>A (p.Ala167Asp)
n.59+1157G>T
12g.53973741C>GCA385105169HOTAIR,HOXC11c.500C>G (p.Ala167Gly)
n.59+1157G>C
12g.53973741C>TCA385105172HOTAIR,HOXC11c.500C>T (p.Ala167Val)
n.59+1157G>A
12g.53973741_53973742insACCAAACA2796041906HOTAIR,HOXC11c.500_501insACCAAA (p.Ala167_Glu168insProAsn)
n.59+1156_59+1157insTTTGGT
12g.53973742C>ACA480090819HOTAIR,HOXC11c.501C>A (p.Ala167=)
n.59+1156G>T
12g.53973742C>GCA480090820HOTAIR,HOXC11c.501C>G (p.Ala167=)
n.59+1156G>C
12g.53973742C>TCA480090821HOTAIR,HOXC11c.501C>T (p.Ala167=)
n.59+1156G>A
12g.53973743G>ACA6604255HOTAIR,HOXC11c.502G>A (p.Glu168Lys)
n.59+1155C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.53973743G>CCA385105175HOTAIR,HOXC11c.502G>C (p.Glu168Gln)
n.59+1155C>G
12g.53973743G=CA2037241133HOTAIR,HOXC11c.502G= (p.Glu168=)
n.59+1155C=
12g.53973743G>TCA385105178HOTAIR,HOXC11c.502G>T (p.Glu168Ter)
n.59+1155C>A
12g.53973744A>CCA385105185HOTAIR,HOXC11c.503A>C (p.Glu168Ala)
n.59+1154T>G
12g.53973744A>GCA385105182HOTAIR,HOXC11c.503A>G (p.Glu168Gly)
n.59+1154T>C
12g.53973744A>TCA385105184HOTAIR,HOXC11c.503A>T (p.Glu168Val)
n.59+1154T>A
12g.53973745G>ACA479965361HOTAIR,HOXC11c.504G>A (p.Glu168=)
n.59+1153C>T
12g.53973745G>CCA385105187HOTAIR,HOXC11c.504G>C (p.Glu168Asp)
n.59+1153C>G
gnomAD v4
12g.53973745G=CA2037241134HOTAIR,HOXC11c.504G= (p.Glu168=)
n.59+1153C=
12g.53973745G>TCA385105190HOTAIR,HOXC11c.504G>T (p.Glu168Asp)
n.59+1153C>A
dbSNP
12g.53973745_53973746delinsGCCA2037241135HOTAIR,HOXC11c.504_505delinsGC (p.Glu168=)
n.59+1152_59+1153delinsGC
12g.53973746C>ACA385105194HOTAIR,HOXC11c.505C>A (p.Pro169Thr)
n.59+1152G>T
dbSNP gnomAD v2 gnomAD v4
12g.53973746C=CA2037241137HOTAIR,HOXC11c.505C= (p.Pro169=)
n.59+1152G=
12g.53973746C>GCA385105195HOTAIR,HOXC11c.505C>G (p.Pro169Ala)
n.59+1152G>C
gnomAD v4
12g.53973746C>TCA385105198HOTAIR,HOXC11c.505C>T (p.Pro169Ser)
n.59+1152G>A
dbSNP gnomAD v2 gnomAD v4
12g.53973751dupCA605245016HOTAIR,HOXC11c.510dup (p.Cys171LeufsTer24)
n.59+1152dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.53973751delCA605245014HOTAIR,HOXC11c.510del (p.Cys171AlafsTer?)
n.59+1152del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.53973747C>ACA6604256HOTAIR,HOXC11c.506C>A (p.Pro169His)
n.59+1151G>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.53973747C=CA2037241139HOTAIR,HOXC11c.506C= (p.Pro169=)
n.59+1151G=
12g.53973747C>GCA385105202HOTAIR,HOXC11c.506C>G (p.Pro169Arg)
n.59+1151G>C
dbSNP gnomAD v3 gnomAD v4
12g.53973747C>TCA385105200HOTAIR,HOXC11c.506C>T (p.Pro169Leu)
n.59+1151G>A
12g.53973748C>ACA479965362HOTAIR,HOXC11c.507C>A (p.Pro169=)
n.59+1150G>T
12g.53973748C>GCA479965363HOTAIR,HOXC11c.507C>G (p.Pro169=)
n.59+1150G>C
12g.53973748C>TCA479965364HOTAIR,HOXC11c.507C>T (p.Pro169=)
n.59+1150G>A
COSMIC

Number of alleles fetched