Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121145842C>ACA383022601TBCEL-TECTA,TECTAc.3831C>A (p.Cys1277Ter)
c.1138C>A
n.396C>A
c.4788C>A (p.Cys1596Ter)
11g.121145842C>GCA383022602TBCEL-TECTA,TECTAc.3831C>G (p.Cys1277Trp)
c.1138C>G
n.396C>G
c.4788C>G (p.Cys1596Trp)
11g.121145842C>TCA477382889TBCEL-TECTA,TECTAc.3831C>T (p.Cys1277=)
c.1138C>T
n.396C>T
c.4788C>T (p.Cys1596=)
11g.121145843C>ACA383022603TBCEL-TECTA,TECTAc.3832C>A (p.Gln1278Lys)
c.1139C>A
n.397C>A
c.4789C>A (p.Gln1597Lys)
 gnomAD v4
11g.121145843C>GCA383022604TBCEL-TECTA,TECTAc.3832C>G (p.Gln1278Glu)
c.1139C>G
n.397C>G
c.4789C>G (p.Gln1597Glu)
11g.121145843C>TCA383022605TBCEL-TECTA,TECTAc.3832C>T (p.Gln1278Ter)
c.1139C>T
n.397C>T
c.4789C>T (p.Gln1597Ter)
11g.121145844A>CCA383022606TBCEL-TECTA,TECTAc.3833A>C (p.Gln1278Pro)
c.1140A>C
n.398A>C
c.4790A>C (p.Gln1597Pro)
11g.121145844A>GCA383022607TBCEL-TECTA,TECTAc.3833A>G (p.Gln1278Arg)
c.1140A>G
n.398A>G
c.4790A>G (p.Gln1597Arg)
11g.121145844A>TCA383022608TBCEL-TECTA,TECTAc.3833A>T (p.Gln1278Leu)
c.1140A>T
n.398A>T
c.4790A>T (p.Gln1597Leu)
11g.121145845G>ACA477382891TBCEL-TECTA,TECTAc.3834G>A (p.Gln1278=)
c.1141G>A
n.399G>A
c.4791G>A (p.Gln1597=)
11g.121145845G>CCA383022609TBCEL-TECTA,TECTAc.3834G>C (p.Gln1278His)
c.1141G>C
n.399G>C
c.4791G>C (p.Gln1597His)
11g.121145845G>TCA383022610TBCEL-TECTA,TECTAc.3834G>T (p.Gln1278His)
c.1141G>T
n.399G>T
c.4791G>T (p.Gln1597His)
11g.121145846G>ACA383022611TBCEL-TECTA,TECTAc.3835G>A (p.Val1279Met)
c.1142G>A
n.400G>A
c.4792G>A (p.Val1598Met)
 dbSNP
11g.121145846G>CCA383022612TBCEL-TECTA,TECTAc.3835G>C (p.Val1279Leu)
c.1142G>C
n.400G>C
c.4792G>C (p.Val1598Leu)
11g.121145846G=CA2004737560TBCEL-TECTA,TECTAc.3835G= (p.Val1279=)
c.1142G=
n.400G=
c.4792G= (p.Val1598=)
11g.121145846G>TCA383022613TBCEL-TECTA,TECTAc.3835G>T (p.Val1279Leu)
c.1142G>T
n.400G>T
c.4792G>T (p.Val1598Leu)
11g.121145847T>ACA383022615TBCEL-TECTA,TECTAc.3836T>A (p.Val1279Glu)
c.1143T>A
n.401T>A
c.4793T>A (p.Val1598Glu)
11g.121145847T>CCA383022616TBCEL-TECTA,TECTAc.3836T>C (p.Val1279Ala)
c.1143T>C
n.401T>C
c.4793T>C (p.Val1598Ala)
11g.121145847T>GCA383022614TBCEL-TECTA,TECTAc.3836T>G (p.Val1279Gly)
c.1143T>G
n.401T>G
c.4793T>G (p.Val1598Gly)
 gnomAD v4
11g.121145848G>ACA6327296TBCEL-TECTA,TECTAc.3837G>A (p.Val1279=)
c.1144G>A
n.402G>A
c.4794G>A (p.Val1598=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145848G>CCA477382896TBCEL-TECTA,TECTAc.3837G>C (p.Val1279=)
c.1144G>C
n.402G>C
c.4794G>C (p.Val1598=)
11g.121145848G=CA2004737561TBCEL-TECTA,TECTAc.3837G= (p.Val1279=)
c.1144G=
n.402G=
c.4794G= (p.Val1598=)
11g.121145848G>TCA477382893TBCEL-TECTA,TECTAc.3837G>T (p.Val1279=)
c.1144G>T
n.402G>T
c.4794G>T (p.Val1598=)
11g.121145849G>ACA6327297TBCEL-TECTA,TECTAc.3838G>A (p.Gly1280Ser)
c.1145G>A
n.403G>A
c.4795G>A (p.Gly1599Ser)
 dbSNP ExAC gnomAD v2
11g.121145849G>CCA383022617TBCEL-TECTA,TECTAc.3838G>C (p.Gly1280Arg)
c.1145G>C
n.403G>C
c.4795G>C (p.Gly1599Arg)
11g.121145849G=CA2004737562TBCEL-TECTA,TECTAc.3838G= (p.Gly1280=)
c.1145G=
n.403G=
c.4795G= (p.Gly1599=)
11g.121145849G>TCA383022618TBCEL-TECTA,TECTAc.3838G>T (p.Gly1280Cys)
c.1145G>T
n.403G>T
c.4795G>T (p.Gly1599Cys)
11g.121145850G>ACA383022619TBCEL-TECTA,TECTAc.3839G>A (p.Gly1280Asp)
c.1146G>A
n.404G>A
c.4796G>A (p.Gly1599Asp)
11g.121145850G>CCA383022620TBCEL-TECTA,TECTAc.3839G>C (p.Gly1280Ala)
c.1146G>C
n.404G>C
c.4796G>C (p.Gly1599Ala)
11g.121145850G>TCA383022621TBCEL-TECTA,TECTAc.3839G>T (p.Gly1280Val)
c.1146G>T
n.404G>T
c.4796G>T (p.Gly1599Val)
11g.121145851C>ACA477382900TBCEL-TECTA,TECTAc.3840C>A (p.Gly1280=)
c.1147C>A
n.405C>A
c.4797C>A (p.Gly1599=)
11g.121145851C>GCA477382897TBCEL-TECTA,TECTAc.3840C>G (p.Gly1280=)
c.1147C>G
n.405C>G
c.4797C>G (p.Gly1599=)
11g.121145851C>TCA477382899TBCEL-TECTA,TECTAc.3840C>T (p.Gly1280=)
c.1147C>T
n.405C>T
c.4797C>T (p.Gly1599=)
11g.121145852T>ACA383022622TBCEL-TECTA,TECTAc.3841T>A (p.Cys1281Ser)
c.1148T>A
n.406T>A
c.4798T>A (p.Cys1600Ser)
11g.121145852T>CCA383022623TBCEL-TECTA,TECTAc.3841T>C (p.Cys1281Arg)
c.1148T>C
n.406T>C
c.4798T>C (p.Cys1600Arg)
11g.121145852T>GCA383022624TBCEL-TECTA,TECTAc.3841T>G (p.Cys1281Gly)
c.1148T>G
n.406T>G
c.4798T>G (p.Cys1600Gly)
11g.121145853G>ACA383022625TBCEL-TECTA,TECTAc.3842G>A (p.Cys1281Tyr)
c.1149G>A
n.407G>A
c.4799G>A (p.Cys1600Tyr)
 gnomAD v4
11g.121145853G>CCA383022626TBCEL-TECTA,TECTAc.3842G>C (p.Cys1281Ser)
c.1149G>C
n.407G>C
c.4799G>C (p.Cys1600Ser)
11g.121145853G=CA2004737563TBCEL-TECTA,TECTAc.3842G= (p.Cys1281=)
c.1149G=
n.407G=
c.4799G= (p.Cys1600=)
11g.121145853G>TCA383022627TBCEL-TECTA,TECTAc.3842G>T (p.Cys1281Phe)
c.1149G>T
n.407G>T
c.4799G>T (p.Cys1600Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121145854T>ACA383022628TBCEL-TECTA,TECTAc.3843T>A (p.Cys1281Ter)
c.1150T>A
n.408T>A
c.4800T>A (p.Cys1600Ter)
11g.121145854T>CCA477382901TBCEL-TECTA,TECTAc.3843T>C (p.Cys1281=)
c.1150T>C
n.408T>C
c.4800T>C (p.Cys1600=)
11g.121145854T>GCA383022629TBCEL-TECTA,TECTAc.3843T>G (p.Cys1281Trp)
c.1150T>G
n.408T>G
c.4800T>G (p.Cys1600Trp)
11g.121145855G>ACA383022632TBCEL-TECTA,TECTAc.3844G>A (p.Gly1282Arg)
c.1151G>A
n.409G>A
c.4801G>A (p.Gly1601Arg)
11g.121145855G>CCA383022630TBCEL-TECTA,TECTAc.3844G>C (p.Gly1282Arg)
c.1151G>C
n.409G>C
c.4801G>C (p.Gly1601Arg)
11g.121145855G>TCA383022631TBCEL-TECTA,TECTAc.3844G>T (p.Gly1282Trp)
c.1151G>T
n.409G>T
c.4801G>T (p.Gly1601Trp)
11g.121145856G>ACA383022633TBCEL-TECTA,TECTAc.3845G>A (p.Gly1282Glu)
c.1152G>A
n.410G>A
c.4802G>A (p.Gly1601Glu)
11g.121145856G>CCA383022634TBCEL-TECTA,TECTAc.3845G>C (p.Gly1282Ala)
c.1152G>C
n.410G>C
c.4802G>C (p.Gly1601Ala)
 dbSNP gnomAD v3 gnomAD v4
11g.121145856G=CA2004737564TBCEL-TECTA,TECTAc.3845G= (p.Gly1282=)
c.1152G=
n.410G=
c.4802G= (p.Gly1601=)
11g.121145856G>TCA6327298TBCEL-TECTA,TECTAc.3845G>T (p.Gly1282Val)
c.1152G>T
n.410G>T
c.4802G>T (p.Gly1601Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145857G>ACA477382903TBCEL-TECTA,TECTAc.3846G>A (p.Gly1282=)
c.1153G>A
n.411G>A
c.4803G>A (p.Gly1601=)
11g.121145857G>CCA477382904TBCEL-TECTA,TECTAc.3846G>C (p.Gly1282=)
c.1153G>C
n.411G>C
c.4803G>C (p.Gly1601=)
11g.121145857G>TCA477382905TBCEL-TECTA,TECTAc.3846G>T (p.Gly1282=)
c.1153G>T
n.411G>T
c.4803G>T (p.Gly1601=)
 gnomAD v4
11g.121145858G>ACA383022635TBCEL-TECTA,TECTAc.3847G>A (p.Asp1283Asn)
c.1154G>A
n.412G>A
c.4804G>A (p.Asp1602Asn)
11g.121145858G>CCA383022636TBCEL-TECTA,TECTAc.3847G>C (p.Asp1283His)
c.1154G>C
n.412G>C
c.4804G>C (p.Asp1602His)
11g.121145858G>TCA383022637TBCEL-TECTA,TECTAc.3847G>T (p.Asp1283Tyr)
c.1154G>T
n.412G>T
c.4804G>T (p.Asp1602Tyr)
11g.121145859A=CA2004737565TBCEL-TECTA,TECTAc.3848A= (p.Asp1283=)
c.1155A=
n.413A=
c.4805A= (p.Asp1602=)
11g.121145859A>CCA383022638TBCEL-TECTA,TECTAc.3848A>C (p.Asp1283Ala)
c.1155A>C
n.413A>C
c.4805A>C (p.Asp1602Ala)
11g.121145859A>GCA6327299TBCEL-TECTA,TECTAc.3848A>G (p.Asp1283Gly)
c.1155A>G
n.413A>G
c.4805A>G (p.Asp1602Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145859A>TCA383022639TBCEL-TECTA,TECTAc.3848A>T (p.Asp1283Val)
c.1155A>T
n.413A>T
c.4805A>T (p.Asp1602Val)
11g.121145860C>ACA383022640TBCEL-TECTA,TECTAc.3849C>A (p.Asp1283Glu)
c.1156C>A
n.414C>A
c.4806C>A (p.Asp1602Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.121145860C=CA2004737566TBCEL-TECTA,TECTAc.3849C= (p.Asp1283=)
c.1156C=
n.414C=
c.4806C= (p.Asp1602=)
11g.121145860C>GCA383022641TBCEL-TECTA,TECTAc.3849C>G (p.Asp1283Glu)
c.1156C>G
n.414C>G
c.4806C>G (p.Asp1602Glu)
11g.121145860C>TCA477382906TBCEL-TECTA,TECTAc.3849C>T (p.Asp1283=)
c.1156C>T
n.414C>T
c.4806C>T (p.Asp1602=)
 gnomAD v4
11g.121145861C>ACA229831515TBCEL-TECTA,TECTAc.3850C>A (p.Arg1284Ser)
c.1157C>A
n.415C>A
c.4807C>A (p.Arg1603Ser)
 dbSNP gnomAD v3 gnomAD v4
11g.121145861C=CA2004737567TBCEL-TECTA,TECTAc.3850C= (p.Arg1284=)
c.1157C=
n.415C=
c.4807C= (p.Arg1603=)
11g.121145861C>GCA383022643TBCEL-TECTA,TECTAc.3850C>G (p.Arg1284Gly)
c.1157C>G
n.415C>G
c.4807C>G (p.Arg1603Gly)
11g.121145861C>TCA383022642TBCEL-TECTA,TECTAc.3850C>T (p.Arg1284Cys)
c.1157C>T
n.415C>T
c.4807C>T (p.Arg1603Cys)
 ClinVar dbSNP gnomAD v4
11g.121145862G>ACA6327300TBCEL-TECTA,TECTAc.3851G>A (p.Arg1284His)
c.1158G>A
n.416G>A
c.4808G>A (p.Arg1603His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145862G>CCA383022644TBCEL-TECTA,TECTAc.3851G>C (p.Arg1284Pro)
c.1158G>C
n.416G>C
c.4808G>C (p.Arg1603Pro)
11g.121145862G=CA2004737568TBCEL-TECTA,TECTAc.3851G= (p.Arg1284=)
c.1158G=
n.416G=
c.4808G= (p.Arg1603=)
11g.121145862G>TCA383022645TBCEL-TECTA,TECTAc.3851G>T (p.Arg1284Leu)
c.1158G>T
n.416G>T
c.4808G>T (p.Arg1603Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145863C>ACA477382909TBCEL-TECTA,TECTAc.3852C>A (p.Arg1284=)
c.1159C>A
n.417C>A
c.4809C>A (p.Arg1603=)
11g.121145863C>GCA477382910TBCEL-TECTA,TECTAc.3852C>G (p.Arg1284=)
c.1159C>G
n.417C>G
c.4809C>G (p.Arg1603=)
11g.121145863C>TCA477382911TBCEL-TECTA,TECTAc.3852C>T (p.Arg1284=)
c.1159C>T
n.417C>T
c.4809C>T (p.Arg1603=)
11g.121145864T>ACA383022646TBCEL-TECTA,TECTAc.3853T>A (p.Cys1285Ser)
c.1160T>A
n.418T>A
c.4810T>A (p.Cys1604Ser)
11g.121145864T>CCA383022647TBCEL-TECTA,TECTAc.3853T>C (p.Cys1285Arg)
c.1160T>C
n.418T>C
c.4810T>C (p.Cys1604Arg)
11g.121145864T>GCA383022648TBCEL-TECTA,TECTAc.3853T>G (p.Cys1285Gly)
c.1160T>G
n.418T>G
c.4810T>G (p.Cys1604Gly)
11g.121145865G>ACA383022650TBCEL-TECTA,TECTAc.3854G>A (p.Cys1285Tyr)
c.1161G>A
n.419G>A
c.4811G>A (p.Cys1604Tyr)
11g.121145865G>CCA16616916TBCEL-TECTA,TECTAc.3854G>C (p.Cys1285Ser)
c.1161G>C
n.419G>C
c.4811G>C (p.Cys1604Ser)
 ClinVar dbSNP
11g.121145865G=CA2004737569TBCEL-TECTA,TECTAc.3854G= (p.Cys1285=)
c.1161G=
n.419G=
c.4811G= (p.Cys1604=)
11g.121145865G>TCA383022649TBCEL-TECTA,TECTAc.3854G>T (p.Cys1285Phe)
c.1161G>T
n.419G>T
c.4811G>T (p.Cys1604Phe)
11g.121145866T>ACA383022651TBCEL-TECTA,TECTAc.3855T>A (p.Cys1285Ter)
c.1162T>A
n.420T>A
c.4812T>A (p.Cys1604Ter)
11g.121145866T>CCA477382914TBCEL-TECTA,TECTAc.3855T>C (p.Cys1285=)
c.1162T>C
n.420T>C
c.4812T>C (p.Cys1604=)
11g.121145866T>GCA383022652TBCEL-TECTA,TECTAc.3855T>G (p.Cys1285Trp)
c.1162T>G
n.420T>G
c.4812T>G (p.Cys1604Trp)
11g.121145867C>ACA383022653TBCEL-TECTA,TECTAc.3856C>A (p.Pro1286Thr)
c.1163C>A
n.421C>A
c.4813C>A (p.Pro1605Thr)
11g.121145867C>GCA383022654TBCEL-TECTA,TECTAc.3856C>G (p.Pro1286Ala)
c.1163C>G
n.421C>G
c.4813C>G (p.Pro1605Ala)
11g.121145867C>TCA383022655TBCEL-TECTA,TECTAc.3856C>T (p.Pro1286Ser)
c.1163C>T
n.421C>T
c.4813C>T (p.Pro1605Ser)
11g.121145868C>ACA383022656TBCEL-TECTA,TECTAc.3857C>A (p.Pro1286Gln)
c.1164C>A
n.422C>A
c.4814C>A (p.Pro1605Gln)
 gnomAD v4
11g.121145868C=CA2004737570TBCEL-TECTA,TECTAc.3857C= (p.Pro1286=)
c.1164C=
n.422C=
c.4814C= (p.Pro1605=)
11g.121145868C>GCA383022657TBCEL-TECTA,TECTAc.3857C>G (p.Pro1286Arg)
c.1164C>G
n.422C>G
c.4814C>G (p.Pro1605Arg)
11g.121145868C>TCA6327301TBCEL-TECTA,TECTAc.3857C>T (p.Pro1286Leu)
c.1164C>T
n.422C>T
c.4814C>T (p.Pro1605Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121145869G>ACA6327302TBCEL-TECTA,TECTAc.3858G>A (p.Pro1286=)
c.1165G>A
n.423G>A
c.4815G>A (p.Pro1605=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145869G>CCA477382916TBCEL-TECTA,TECTAc.3858G>C (p.Pro1286=)
c.1165G>C
n.423G>C
c.4815G>C (p.Pro1605=)
11g.121145869G=CA2004737571TBCEL-TECTA,TECTAc.3858G= (p.Pro1286=)
c.1165G=
n.423G=
c.4815G= (p.Pro1605=)
11g.121145869G>TCA477382917TBCEL-TECTA,TECTAc.3858G>T (p.Pro1286=)
c.1165G>T
n.423G>T
c.4815G>T (p.Pro1605=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145870T>ACA383022658TBCEL-TECTA,TECTAc.3859T>A (p.Ser1287Thr)
c.1166T>A
n.424T>A
c.4816T>A (p.Ser1606Thr)
11g.121145870T>CCA383022659TBCEL-TECTA,TECTAc.3859T>C (p.Ser1287Pro)
c.1166T>C
n.424T>C
c.4816T>C (p.Ser1606Pro)
 dbSNP gnomAD v4
11g.121145870T>GCA383022660TBCEL-TECTA,TECTAc.3859T>G (p.Ser1287Ala)
c.1166T>G
n.424T>G
c.4816T>G (p.Ser1606Ala)
11g.121145870T=CA2004737572TBCEL-TECTA,TECTAc.3859T= (p.Ser1287=)
c.1166T=
n.424T=
c.4816T= (p.Ser1606=)
11g.121145871C>ACA383022661TBCEL-TECTA,TECTAc.3860C>A (p.Ser1287Tyr)
c.1167C>A
n.425C>A
c.4817C>A (p.Ser1606Tyr)
11g.121145871C>GCA383022662TBCEL-TECTA,TECTAc.3860C>G (p.Ser1287Cys)
c.1167C>G
n.425C>G
c.4817C>G (p.Ser1606Cys)
11g.121145871C>TCA383022663TBCEL-TECTA,TECTAc.3860C>T (p.Ser1287Phe)
c.1167C>T
n.425C>T
c.4817C>T (p.Ser1606Phe)
11g.121145872C>ACA477382920TBCEL-TECTA,TECTAc.3861C>A (p.Ser1287=)
c.1168C>A
n.426C>A
c.4818C>A (p.Ser1606=)
 gnomAD v4
11g.121145872C>GCA477382921TBCEL-TECTA,TECTAc.3861C>G (p.Ser1287=)
c.1168C>G
n.426C>G
c.4818C>G (p.Ser1606=)
11g.121145872C>TCA477382919TBCEL-TECTA,TECTAc.3861C>T (p.Ser1287=)
c.1168C>T
n.426C>T
c.4818C>T (p.Ser1606=)
11g.121145873T>ACA383022664TBCEL-TECTA,TECTAc.3862T>A (p.Cys1288Ser)
c.1169T>A
n.427T>A
c.4819T>A (p.Cys1607Ser)
11g.121145873T>CCA383022665TBCEL-TECTA,TECTAc.3862T>C (p.Cys1288Arg)
c.1169T>C
n.427T>C
c.4819T>C (p.Cys1607Arg)
11g.121145873T>GCA383022666TBCEL-TECTA,TECTAc.3862T>G (p.Cys1288Gly)
c.1169T>G
n.427T>G
c.4819T>G (p.Cys1607Gly)
11g.121145874G>ACA383022669TBCEL-TECTA,TECTAc.3863G>A (p.Cys1288Tyr)
c.1170G>A
n.428G>A
c.4820G>A (p.Cys1607Tyr)
11g.121145874G>CCA383022668TBCEL-TECTA,TECTAc.3863G>C (p.Cys1288Ser)
c.1170G>C
n.428G>C
c.4820G>C (p.Cys1607Ser)
11g.121145874G>TCA383022667TBCEL-TECTA,TECTAc.3863G>T (p.Cys1288Phe)
c.1170G>T
n.428G>T
c.4820G>T (p.Cys1607Phe)
11g.121145875T>ACA383022670TBCEL-TECTA,TECTAc.3864T>A (p.Cys1288Ter)
c.1171T>A
n.429T>A
c.4821T>A (p.Cys1607Ter)
11g.121145875T>CCA477382922TBCEL-TECTA,TECTAc.3864T>C (p.Cys1288=)
c.1171T>C
n.429T>C
c.4821T>C (p.Cys1607=)
11g.121145875T>GCA383022671TBCEL-TECTA,TECTAc.3864T>G (p.Cys1288Trp)
c.1171T>G
n.429T>G
c.4821T>G (p.Cys1607Trp)
11g.121145876G>ACA383022672TBCEL-TECTA,TECTAc.3865G>A (p.Ala1289Thr)
c.1172G>A
n.430G>A
c.4822G>A (p.Ala1608Thr)
 dbSNP gnomAD v2 gnomAD v4
11g.121145876G>CCA383022673TBCEL-TECTA,TECTAc.3865G>C (p.Ala1289Pro)
c.1172G>C
n.430G>C
c.4822G>C (p.Ala1608Pro)
11g.121145876G=CA2004737573TBCEL-TECTA,TECTAc.3865G= (p.Ala1289=)
c.1172G=
n.430G=
c.4822G= (p.Ala1608=)
11g.121145876G>TCA383022674TBCEL-TECTA,TECTAc.3865G>T (p.Ala1289Ser)
c.1172G>T
n.430G>T
c.4822G>T (p.Ala1608Ser)
11g.121145877C>ACA383022675TBCEL-TECTA,TECTAc.3866C>A (p.Ala1289Asp)
c.1173C>A
n.431C>A
c.4823C>A (p.Ala1608Asp)
11g.121145877C=CA2004737574TBCEL-TECTA,TECTAc.3866C= (p.Ala1289=)
c.1173C=
n.431C=
c.4823C= (p.Ala1608=)
11g.121145877C>GCA383022676TBCEL-TECTA,TECTAc.3866C>G (p.Ala1289Gly)
c.1173C>G
n.431C>G
c.4823C>G (p.Ala1608Gly)
11g.121145877C>TCA6327303TBCEL-TECTA,TECTAc.3866C>T (p.Ala1289Val)
c.1173C>T
n.431C>T
c.4823C>T (p.Ala1608Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145878C>ACA477382924TBCEL-TECTA,TECTAc.3867C>A (p.Ala1289=)
c.1174C>A
n.432C>A
c.4824C>A (p.Ala1608=)
11g.121145878C>GCA477382925TBCEL-TECTA,TECTAc.3867C>G (p.Ala1289=)
c.1174C>G
n.432C>G
c.4824C>G (p.Ala1608=)
11g.121145878C>TCA477382923TBCEL-TECTA,TECTAc.3867C>T (p.Ala1289=)
c.1174C>T
n.432C>T
c.4824C>T (p.Ala1608=)
11g.121145879A=CA2004737575TBCEL-TECTA,TECTAc.3868A= (p.Lys1290=)
c.1175A=
n.433A=
c.4825A= (p.Lys1609=)
11g.121145879A>CCA383022677TBCEL-TECTA,TECTAc.3868A>C (p.Lys1290Gln)
c.1175A>C
n.433A>C
c.4825A>C (p.Lys1609Gln)
11g.121145879A>GCA229831546TBCEL-TECTA,TECTAc.3868A>G (p.Lys1290Glu)
c.1175A>G
n.433A>G
c.4825A>G (p.Lys1609Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.121145879A>TCA383022678TBCEL-TECTA,TECTAc.3868A>T (p.Lys1290Ter)
c.1175A>T
n.433A>T
c.4825A>T (p.Lys1609Ter)
11g.121145880A=CA2004737576TBCEL-TECTA,TECTAc.3869A= (p.Lys1290=)
c.1176A=
n.434A=
c.4826A= (p.Lys1609=)
11g.121145880A>CCA383022679TBCEL-TECTA,TECTAc.3869A>C (p.Lys1290Thr)
c.1176A>C
n.434A>C
c.4826A>C (p.Lys1609Thr)
11g.121145880A>GCA383022680TBCEL-TECTA,TECTAc.3869A>G (p.Lys1290Arg)
c.1176A>G
n.434A>G
c.4826A>G (p.Lys1609Arg)
11g.121145880A>TCA6327304TBCEL-TECTA,TECTAc.3869A>T (p.Lys1290Met)
c.1176A>T
n.434A>T
c.4826A>T (p.Lys1609Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145881G>ACA229831551TBCEL-TECTA,TECTAc.3870G>A (p.Lys1290=)
c.1177G>A
n.435G>A
c.4827G>A (p.Lys1609=)
 dbSNP gnomAD v3 gnomAD v4
11g.121145881G>CCA383022682TBCEL-TECTA,TECTAc.3870G>C (p.Lys1290Asn)
c.1177G>C
n.435G>C
c.4827G>C (p.Lys1609Asn)
11g.121145881G=CA2004737577TBCEL-TECTA,TECTAc.3870G= (p.Lys1290=)
c.1177G=
n.435G=
c.4827G= (p.Lys1609=)
11g.121145881G>TCA383022681TBCEL-TECTA,TECTAc.3870G>T (p.Lys1290Asn)
c.1177G>T
n.435G>T
c.4827G>T (p.Lys1609Asn)
11g.121145882G>ACA383022683TBCEL-TECTA,TECTAc.3871G>A (p.Val1291Met)
c.1178G>A
n.436G>A
c.4828G>A (p.Val1610Met)
 gnomAD v4
11g.121145882G>CCA383022684TBCEL-TECTA,TECTAc.3871G>C (p.Val1291Leu)
c.1178G>C
n.436G>C
c.4828G>C (p.Val1610Leu)
11g.121145882G=CA2004737578TBCEL-TECTA,TECTAc.3871G= (p.Val1291=)
c.1178G=
n.436G=
c.4828G= (p.Val1610=)
11g.121145882G>TCA229831559TBCEL-TECTA,TECTAc.3871G>T (p.Val1291Leu)
c.1178G>T
n.436G>T
c.4828G>T (p.Val1610Leu)
 dbSNP gnomAD v4
11g.121145883T>ACA383022685TBCEL-TECTA,TECTAc.3872T>A (p.Val1291Glu)
c.1179T>A
n.437T>A
c.4829T>A (p.Val1610Glu)
11g.121145883T>CCA383022686TBCEL-TECTA,TECTAc.3872T>C (p.Val1291Ala)
c.1179T>C
n.437T>C
c.4829T>C (p.Val1610Ala)
11g.121145883T>GCA383022687TBCEL-TECTA,TECTAc.3872T>G (p.Val1291Gly)
c.1179T>G
n.437T>G
c.4829T>G (p.Val1610Gly)
11g.121145884G>ACA6327305TBCEL-TECTA,TECTAc.3873G>A (p.Val1291=)
c.1180G>A
n.438G>A
c.4830G>A (p.Val1610=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145884G>CCA477382926TBCEL-TECTA,TECTAc.3873G>C (p.Val1291=)
c.1180G>C
n.438G>C
c.4830G>C (p.Val1610=)
11g.121145884G=CA2004737579TBCEL-TECTA,TECTAc.3873G= (p.Val1291=)
c.1180G=
n.438G=
c.4830G= (p.Val1610=)
11g.121145884G>TCA477382927TBCEL-TECTA,TECTAc.3873G>T (p.Val1291=)
c.1180G>T
n.438G>T
c.4830G>T (p.Val1610=)
11g.121145885G>ACA6327306TBCEL-TECTA,TECTAc.3874G>A (p.Glu1292Lys)
c.1181G>A
n.439G>A
c.4831G>A (p.Glu1611Lys)
 dbSNP ExAC
11g.121145885G>CCA383022688TBCEL-TECTA,TECTAc.3874G>C (p.Glu1292Gln)
c.1181G>C
n.439G>C
c.4831G>C (p.Glu1611Gln)
 dbSNP gnomAD v4
11g.121145885G=CA2004737580TBCEL-TECTA,TECTAc.3874G= (p.Glu1292=)
c.1181G=
n.439G=
c.4831G= (p.Glu1611=)
11g.121145885G>TCA383022689TBCEL-TECTA,TECTAc.3874G>T (p.Glu1292Ter)
c.1181G>T
n.439G>T
c.4831G>T (p.Glu1611Ter)
11g.121145886A>CCA383022690TBCEL-TECTA,TECTAc.3875A>C (p.Glu1292Ala)
c.1182A>C
n.440A>C
c.4832A>C (p.Glu1611Ala)
11g.121145886A>GCA383022691TBCEL-TECTA,TECTAc.3875A>G (p.Glu1292Gly)
c.1182A>G
n.440A>G
c.4832A>G (p.Glu1611Gly)
11g.121145886A>TCA383022692TBCEL-TECTA,TECTAc.3875A>T (p.Glu1292Val)
c.1182A>T
n.440A>T
c.4832A>T (p.Glu1611Val)
11g.121145887A>CCA383022693TBCEL-TECTA,TECTAc.3876A>C (p.Glu1292Asp)
c.1183A>C
n.441A>C
c.4833A>C (p.Glu1611Asp)
11g.121145887A>GCA477382928TBCEL-TECTA,TECTAc.3876A>G (p.Glu1292=)
c.1183A>G
n.441A>G
c.4833A>G (p.Glu1611=)
11g.121145887A>TCA383022694TBCEL-TECTA,TECTAc.3876A>T (p.Glu1292Asp)
c.1183A>T
n.441A>T
c.4833A>T (p.Glu1611Asp)
11g.121145888G>ACA383022696TBCEL-TECTA,TECTAc.3877G>A (p.Gly1293Ser)
c.1184G>A
n.442G>A
c.4834G>A (p.Gly1612Ser)
11g.121145888G>CCA383022697TBCEL-TECTA,TECTAc.3877G>C (p.Gly1293Arg)
c.1184G>C
n.442G>C
c.4834G>C (p.Gly1612Arg)
11g.121145888G>TCA383022695TBCEL-TECTA,TECTAc.3877G>T (p.Gly1293Cys)
c.1184G>T
n.442G>T
c.4834G>T (p.Gly1612Cys)
11g.121145889G>ACA6327307TBCEL-TECTA,TECTAc.3878G>A (p.Gly1293Asp)
c.1185G>A
n.443G>A
c.4835G>A (p.Gly1612Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145889G>CCA383022698TBCEL-TECTA,TECTAc.3878G>C (p.Gly1293Ala)
c.1185G>C
n.443G>C
c.4835G>C (p.Gly1612Ala)
11g.121145889G=CA2004737581TBCEL-TECTA,TECTAc.3878G= (p.Gly1293=)
c.1185G=
n.443G=
c.4835G= (p.Gly1612=)
11g.121145889G>TCA383022699TBCEL-TECTA,TECTAc.3878G>T (p.Gly1293Val)
c.1185G>T
n.443G>T
c.4835G>T (p.Gly1612Val)
 dbSNP
11g.121145890T>ACA477382929TBCEL-TECTA,TECTAc.3879T>A (p.Gly1293=)
c.1186T>A
n.444T>A
c.4836T>A (p.Gly1612=)
 gnomAD v4
11g.121145890T>CCA477382931TBCEL-TECTA,TECTAc.3879T>C (p.Gly1293=)
c.1186T>C
n.444T>C
c.4836T>C (p.Gly1612=)
 gnomAD v4
11g.121145890T>GCA477382930TBCEL-TECTA,TECTAc.3879T>G (p.Gly1293=)
c.1186T>G
n.444T>G
c.4836T>G (p.Gly1612=)
11g.121145891T>ACA383022700TBCEL-TECTA,TECTAc.3880T>A (p.Phe1294Ile)
c.1187T>A
n.445T>A
c.4837T>A (p.Phe1613Ile)
11g.121145891T>CCA383022701TBCEL-TECTA,TECTAc.3880T>C (p.Phe1294Leu)
c.1187T>C
n.445T>C
c.4837T>C (p.Phe1613Leu)
11g.121145891T>GCA383022702TBCEL-TECTA,TECTAc.3880T>G (p.Phe1294Val)
c.1187T>G
n.445T>G
c.4837T>G (p.Phe1613Val)
11g.121145892T>ACA383022705TBCEL-TECTA,TECTAc.3881T>A (p.Phe1294Tyr)
c.1188T>A
n.446T>A
c.4838T>A (p.Phe1613Tyr)
11g.121145892T>CCA383022703TBCEL-TECTA,TECTAc.3881T>C (p.Phe1294Ser)
c.1188T>C
n.446T>C
c.4838T>C (p.Phe1613Ser)
11g.121145892T>GCA383022704TBCEL-TECTA,TECTAc.3881T>G (p.Phe1294Cys)
c.1188T>G
n.446T>G
c.4838T>G (p.Phe1613Cys)
11g.121145893C>ACA383022706TBCEL-TECTA,TECTAc.3882C>A (p.Phe1294Leu)
c.1189C>A
n.447C>A
c.4839C>A (p.Phe1613Leu)
 dbSNP
11g.121145893C=CA2004737582TBCEL-TECTA,TECTAc.3882C= (p.Phe1294=)
c.1189C=
n.447C=
c.4839C= (p.Phe1613=)
11g.121145893C>GCA383022707TBCEL-TECTA,TECTAc.3882C>G (p.Phe1294Leu)
c.1189C>G
n.447C>G
c.4839C>G (p.Phe1613Leu)
11g.121145893C>TCA477382932TBCEL-TECTA,TECTAc.3882C>T (p.Phe1294=)
c.1189C>T
n.447C>T
c.4839C>T (p.Phe1613=)
11g.121145894T>ACA383022708TBCEL-TECTA,TECTAc.3883T>A (p.Ser1295Thr)
c.1190T>A
n.448T>A
c.4840T>A (p.Ser1614Thr)
11g.121145894T>CCA383022709TBCEL-TECTA,TECTAc.3883T>C (p.Ser1295Pro)
c.1190T>C
n.448T>C
c.4840T>C (p.Ser1614Pro)
 gnomAD v4
11g.121145894T>GCA383022710TBCEL-TECTA,TECTAc.3883T>G (p.Ser1295Ala)
c.1190T>G
n.448T>G
c.4840T>G (p.Ser1614Ala)
11g.121145895C>ACA383022711TBCEL-TECTA,TECTAc.3884C>A (p.Ser1295Tyr)
c.1191C>A
n.449C>A
c.4841C>A (p.Ser1614Tyr)
11g.121145895C>GCA383022713TBCEL-TECTA,TECTAc.3884C>G (p.Ser1295Cys)
c.1191C>G
n.449C>G
c.4841C>G (p.Ser1614Cys)
11g.121145895C>TCA383022712TBCEL-TECTA,TECTAc.3884C>T (p.Ser1295Phe)
c.1191C>T
n.449C>T
c.4841C>T (p.Ser1614Phe)
 COSMIC
11g.121145896C>ACA477382933TBCEL-TECTA,TECTAc.3885C>A (p.Ser1295=)
c.1192C>A
n.450C>A
c.4842C>A (p.Ser1614=)
11g.121145896C>GCA477382934TBCEL-TECTA,TECTAc.3885C>G (p.Ser1295=)
c.1192C>G
n.450C>G
c.4842C>G (p.Ser1614=)
 gnomAD v4
11g.121145896C>TCA477382935TBCEL-TECTA,TECTAc.3885C>T (p.Ser1295=)
c.1192C>T
n.450C>T
c.4842C>T (p.Ser1614=)
11g.121145897A>CCA383022714TBCEL-TECTA,TECTAc.3886A>C (p.Lys1296Gln)
c.1193A>C
n.451A>C
c.4843A>C (p.Lys1615Gln)
11g.121145897A>GCA383022715TBCEL-TECTA,TECTAc.3886A>G (p.Lys1296Glu)
c.1193A>G
n.451A>G
c.4843A>G (p.Lys1615Glu)
11g.121145897A>TCA383022716TBCEL-TECTA,TECTAc.3886A>T (p.Lys1296Ter)
c.1193A>T
n.451A>T
c.4843A>T (p.Lys1615Ter)
11g.121145899delCA645593864TBCEL-TECTA,TECTAc.3888del (p.Val1297CysfsTer7)
c.1195del
n.453del
c.4845del (p.Val1616CysfsTer7)
 COSMIC
11g.121145898A>CCA383022717TBCEL-TECTA,TECTAc.3887A>C (p.Lys1296Thr)
c.1194A>C
n.452A>C
c.4844A>C (p.Lys1615Thr)
11g.121145898A>GCA383022718TBCEL-TECTA,TECTAc.3887A>G (p.Lys1296Arg)
c.1194A>G
n.452A>G
c.4844A>G (p.Lys1615Arg)
11g.121145898A>TCA383022719TBCEL-TECTA,TECTAc.3887A>T (p.Lys1296Ile)
c.1194A>T
n.452A>T
c.4844A>T (p.Lys1615Ile)
11g.121145899A>CCA383022720TBCEL-TECTA,TECTAc.3888A>C (p.Lys1296Asn)
c.1195A>C
n.453A>C
c.4845A>C (p.Lys1615Asn)
11g.121145899A>GCA477382936TBCEL-TECTA,TECTAc.3888A>G (p.Lys1296=)
c.1195A>G
n.453A>G
c.4845A>G (p.Lys1615=)
 COSMIC
11g.121145899A>TCA383022721TBCEL-TECTA,TECTAc.3888A>T (p.Lys1296Asn)
c.1195A>T
n.453A>T
c.4845A>T (p.Lys1615Asn)
11g.121145900G>ACA383022722TBCEL-TECTA,TECTAc.3889G>A (p.Val1297Met)
c.1196G>A
n.454G>A
c.4846G>A (p.Val1616Met)
11g.121145900G>CCA383022723TBCEL-TECTA,TECTAc.3889G>C (p.Val1297Leu)
c.1196G>C
n.454G>C
c.4846G>C (p.Val1616Leu)
11g.121145900G>TCA383022724TBCEL-TECTA,TECTAc.3889G>T (p.Val1297Leu)
c.1196G>T
n.454G>T
c.4846G>T (p.Val1616Leu)
11g.121145901T>ACA383022725TBCEL-TECTA,TECTAc.3890T>A (p.Val1297Glu)
c.1197T>A
n.455T>A
c.4847T>A (p.Val1616Glu)
11g.121145901T>CCA383022727TBCEL-TECTA,TECTAc.3890T>C (p.Val1297Ala)
c.1197T>C
n.455T>C
c.4847T>C (p.Val1616Ala)
 dbSNP
11g.121145901T>GCA383022726TBCEL-TECTA,TECTAc.3890T>G (p.Val1297Gly)
c.1197T>G
n.455T>G
c.4847T>G (p.Val1616Gly)
11g.121145902G>ACA477382937TBCEL-TECTA,TECTAc.3891G>A (p.Val1297=)
c.1198G>A
n.456G>A
c.4848G>A (p.Val1616=)
11g.121145902G>CCA477382939TBCEL-TECTA,TECTAc.3891G>C (p.Val1297=)
c.1198G>C
n.456G>C
c.4848G>C (p.Val1616=)
11g.121145902G>TCA477382938TBCEL-TECTA,TECTAc.3891G>T (p.Val1297=)
c.1198G>T
n.456G>T
c.4848G>T (p.Val1616=)
11g.121145903C>ACA383022728TBCEL-TECTA,TECTAc.3892C>A (p.Gln1298Lys)
c.1199C>A
n.457C>A
c.4849C>A (p.Gln1617Lys)
11g.121145903C>GCA383022730TBCEL-TECTA,TECTAc.3892C>G (p.Gln1298Glu)
c.1199C>G
n.457C>G
c.4849C>G (p.Gln1617Glu)
11g.121145903C>TCA383022729TBCEL-TECTA,TECTAc.3892C>T (p.Gln1298Ter)
c.1199C>T
n.457C>T
c.4849C>T (p.Gln1617Ter)
11g.121145904A>CCA383022731TBCEL-TECTA,TECTAc.3893A>C (p.Gln1298Pro)
c.1200A>C
n.458A>C
c.4850A>C (p.Gln1617Pro)
11g.121145904A>GCA383022732TBCEL-TECTA,TECTAc.3893A>G (p.Gln1298Arg)
c.1200A>G
n.458A>G
c.4850A>G (p.Gln1617Arg)
 gnomAD v4
11g.121145904A>TCA383022733TBCEL-TECTA,TECTAc.3893A>T (p.Gln1298Leu)
c.1200A>T
n.458A>T
c.4850A>T (p.Gln1617Leu)
11g.121145905G>ACA477382940TBCEL-TECTA,TECTAc.3894G>A (p.Gln1298=)
c.1201G>A
n.459G>A
c.4851G>A (p.Gln1617=)
 dbSNP gnomAD v2 gnomAD v4
11g.121145905G>CCA383022734TBCEL-TECTA,TECTAc.3894G>C (p.Gln1298His)
c.1201G>C
n.459G>C
c.4851G>C (p.Gln1617His)
11g.121145905G=CA2004737583TBCEL-TECTA,TECTAc.3894G= (p.Gln1298=)
c.1201G=
n.459G=
c.4851G= (p.Gln1617=)
11g.121145905G>TCA383022735TBCEL-TECTA,TECTAc.3894G>T (p.Gln1298His)
c.1201G>T
n.459G>T
c.4851G>T (p.Gln1617His)
11g.121145906C>ACA383022736TBCEL-TECTA,TECTAc.3895C>A (p.Gln1299Lys)
c.1202C>A
n.460C>A
c.4852C>A (p.Gln1618Lys)
11g.121145906C>GCA383022737TBCEL-TECTA,TECTAc.3895C>G (p.Gln1299Glu)
c.1202C>G
n.460C>G
c.4852C>G (p.Gln1618Glu)
 gnomAD v4
11g.121145906C>TCA383022738TBCEL-TECTA,TECTAc.3895C>T (p.Gln1299Ter)
c.1202C>T
n.460C>T
c.4852C>T (p.Gln1618Ter)
11g.121145907A=CA2004737584TBCEL-TECTA,TECTAc.3896A= (p.Gln1299=)
c.1203A=
n.461A=
c.4853A= (p.Gln1618=)
11g.121145907A>CCA383022739TBCEL-TECTA,TECTAc.3896A>C (p.Gln1299Pro)
c.1203A>C
n.461A>C
c.4853A>C (p.Gln1618Pro)
 gnomAD v4
11g.121145907A>GCA6327308TBCEL-TECTA,TECTAc.3896A>G (p.Gln1299Arg)
c.1203A>G
n.461A>G
c.4853A>G (p.Gln1618Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145907A>TCA383022740TBCEL-TECTA,TECTAc.3896A>T (p.Gln1299Leu)
c.1203A>T
n.461A>T
c.4853A>T (p.Gln1618Leu)
11g.121145908G>ACA477382941TBCEL-TECTA,TECTAc.3897G>A (p.Gln1299=)
c.1204G>A
n.462G>A
c.4854G>A (p.Gln1618=)
11g.121145908G>CCA383022741TBCEL-TECTA,TECTAc.3897G>C (p.Gln1299His)
c.1204G>C
n.462G>C
c.4854G>C (p.Gln1618His)
11g.121145908G>TCA383022742TBCEL-TECTA,TECTAc.3897G>T (p.Gln1299His)
c.1204G>T
n.462G>T
c.4854G>T (p.Gln1618His)
11g.121145909C>ACA383022743TBCEL-TECTA,TECTAc.3898C>A (p.Leu1300Met)
c.1205C>A
n.463C>A
c.4855C>A (p.Leu1619Met)
11g.121145909C=CA2004737585TBCEL-TECTA,TECTAc.3898C= (p.Leu1300=)
c.1205C=
n.463C=
c.4855C= (p.Leu1619=)
11g.121145909C>GCA6327309TBCEL-TECTA,TECTAc.3898C>G (p.Leu1300Val)
c.1205C>G
n.463C>G
c.4855C>G (p.Leu1619Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145909C>TCA229831631TBCEL-TECTA,TECTAc.3898C>T (p.Leu1300=)
c.1205C>T
n.463C>T
c.4855C>T (p.Leu1619=)
 ClinVar dbSNP gnomAD v4
11g.121145910T>ACA383022744TBCEL-TECTA,TECTAc.3899T>A (p.Leu1300Gln)
c.1206T>A
n.464T>A
c.4856T>A (p.Leu1619Gln)
11g.121145910T>CCA383022745TBCEL-TECTA,TECTAc.3899T>C (p.Leu1300Pro)
c.1206T>C
n.464T>C
c.4856T>C (p.Leu1619Pro)
 gnomAD v4
11g.121145910T>GCA229831641TBCEL-TECTA,TECTAc.3899T>G (p.Leu1300Arg)
c.1206T>G
n.464T>G
c.4856T>G (p.Leu1619Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121145910T=CA2004737586TBCEL-TECTA,TECTAc.3899T= (p.Leu1300=)
c.1206T=
n.464T=
c.4856T= (p.Leu1619=)
11g.121145911G>ACA477382943TBCEL-TECTA,TECTAc.3900G>A (p.Leu1300=)
c.1207G>A
n.465G>A
c.4857G>A (p.Leu1619=)
 dbSNP gnomAD v4
11g.121145911G>CCA477382942TBCEL-TECTA,TECTAc.3900G>C (p.Leu1300=)
c.1207G>C
n.465G>C
c.4857G>C (p.Leu1619=)
11g.121145911G=CA2004737587TBCEL-TECTA,TECTAc.3900G= (p.Leu1300=)
c.1207G=
n.465G=
c.4857G= (p.Leu1619=)
11g.121145911G>TCA229831645TBCEL-TECTA,TECTAc.3900G>T (p.Leu1300=)
c.1207G>T
n.465G>T
c.4857G>T (p.Leu1619=)
 dbSNP gnomAD v4
11g.121145912T>ACA383022746TBCEL-TECTA,TECTAc.3901T>A (p.Cys1301Ser)
c.1208T>A
n.466T>A
c.4858T>A (p.Cys1620Ser)
11g.121145912T>CCA383022747TBCEL-TECTA,TECTAc.3901T>C (p.Cys1301Arg)
c.1208T>C
n.466T>C
c.4858T>C (p.Cys1620Arg)
11g.121145912T>GCA383022748TBCEL-TECTA,TECTAc.3901T>G (p.Cys1301Gly)
c.1208T>G
n.466T>G
c.4858T>G (p.Cys1620Gly)
11g.121145913G>ACA383022749TBCEL-TECTA,TECTAc.3902G>A (p.Cys1301Tyr)
c.1209G>A
n.467G>A
c.4859G>A (p.Cys1620Tyr)
11g.121145913G>CCA383022750TBCEL-TECTA,TECTAc.3902G>C (p.Cys1301Ser)
c.1209G>C
n.467G>C
c.4859G>C (p.Cys1620Ser)
11g.121145913G=CA2004737588TBCEL-TECTA,TECTAc.3902G= (p.Cys1301=)
c.1209G=
n.467G=
c.4859G= (p.Cys1620=)
11g.121145913G>TCA383022751TBCEL-TECTA,TECTAc.3902G>T (p.Cys1301Phe)
c.1209G>T
n.467G>T
c.4859G>T (p.Cys1620Phe)
 dbSNP gnomAD v2 gnomAD v4
11g.121145914C>ACA383022753TBCEL-TECTA,TECTAc.3903C>A (p.Cys1301Ter)
c.1210C>A
n.468C>A
c.4860C>A (p.Cys1620Ter)
11g.121145914C=CA2004737589TBCEL-TECTA,TECTAc.3903C= (p.Cys1301=)
c.1210C=
n.468C=
c.4860C= (p.Cys1620=)
11g.121145914C>GCA383022752TBCEL-TECTA,TECTAc.3903C>G (p.Cys1301Trp)
c.1210C>G
n.468C>G
c.4860C>G (p.Cys1620Trp)
11g.121145914C>TCA229831646TBCEL-TECTA,TECTAc.3903C>T (p.Cys1301=)
c.1210C>T
n.468C>T
c.4860C>T (p.Cys1620=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145915A>CCA383022754TBCEL-TECTA,TECTAc.3904A>C (p.Ser1302Arg)
c.1211A>C
n.469A>C
c.4861A>C (p.Ser1621Arg)
11g.121145915A>GCA383022755TBCEL-TECTA,TECTAc.3904A>G (p.Ser1302Gly)
c.1211A>G
n.469A>G
c.4861A>G (p.Ser1621Gly)
11g.121145915A>TCA383022756TBCEL-TECTA,TECTAc.3904A>T (p.Ser1302Cys)
c.1211A>T
n.469A>T
c.4861A>T (p.Ser1621Cys)
11g.121145916G>ACA383022757TBCEL-TECTA,TECTAc.3905G>A (p.Ser1302Asn)
c.1212G>A
n.470G>A
c.4862G>A (p.Ser1621Asn)
11g.121145916G>CCA383022758TBCEL-TECTA,TECTAc.3905G>C (p.Ser1302Thr)
c.1212G>C
n.470G>C
c.4862G>C (p.Ser1621Thr)
11g.121145916G>TCA383022759TBCEL-TECTA,TECTAc.3905G>T (p.Ser1302Ile)
c.1212G>T
n.470G>T
c.4862G>T (p.Ser1621Ile)
11g.121145917C>ACA383022760TBCEL-TECTA,TECTAc.3906C>A (p.Ser1302Arg)
c.1213C>A
n.471C>A
c.4863C>A (p.Ser1621Arg)
 dbSNP gnomAD v2 gnomAD v4
11g.121145917C=CA2004737590TBCEL-TECTA,TECTAc.3906C= (p.Ser1302=)
c.1213C=
n.471C=
c.4863C= (p.Ser1621=)
11g.121145917C>GCA383022761TBCEL-TECTA,TECTAc.3906C>G (p.Ser1302Arg)
c.1213C>G
n.471C>G
c.4863C>G (p.Ser1621Arg)
11g.121145917C>TCA477382944TBCEL-TECTA,TECTAc.3906C>T (p.Ser1302=)
c.1213C>T
n.471C>T
c.4863C>T (p.Ser1621=)
11g.121145918C>ACA383022762TBCEL-TECTA,TECTAc.3907C>A (p.Leu1303Met)
c.1214C>A
n.472C>A
c.4864C>A (p.Leu1622Met)
11g.121145918C>GCA383022763TBCEL-TECTA,TECTAc.3907C>G (p.Leu1303Val)
c.1214C>G
n.472C>G
c.4864C>G (p.Leu1622Val)
11g.121145918C>TCA477382945TBCEL-TECTA,TECTAc.3907C>T (p.Leu1303=)
c.1214C>T
n.472C>T
c.4864C>T (p.Leu1622=)
11g.121145919T>ACA383022764TBCEL-TECTA,TECTAc.3908T>A (p.Leu1303Gln)
c.1215T>A
n.473T>A
c.4865T>A (p.Leu1622Gln)
11g.121145919T>CCA383022765TBCEL-TECTA,TECTAc.3908T>C (p.Leu1303Pro)
c.1215T>C
n.473T>C
c.4865T>C (p.Leu1622Pro)
11g.121145919T>GCA383022766TBCEL-TECTA,TECTAc.3908T>G (p.Leu1303Arg)
c.1215T>G
n.473T>G
c.4865T>G (p.Leu1622Arg)
11g.121145920G>ACA477382946TBCEL-TECTA,TECTAc.3909G>A (p.Leu1303=)
c.1216G>A
n.474G>A
c.4866G>A (p.Leu1622=)
11g.121145920G>CCA477382947TBCEL-TECTA,TECTAc.3909G>C (p.Leu1303=)
c.1216G>C
n.474G>C
c.4866G>C (p.Leu1622=)
11g.121145920G>TCA477382948TBCEL-TECTA,TECTAc.3909G>T (p.Leu1303=)
c.1216G>T
n.474G>T
c.4866G>T (p.Leu1622=)
11g.121145921A=CA2004737591TBCEL-TECTA,TECTAc.3910A= (p.Ile1304=)
c.1217A=
n.475A=
c.4867A= (p.Ile1623=)
11g.121145921A>CCA383022767TBCEL-TECTA,TECTAc.3910A>C (p.Ile1304Leu)
c.1217A>C
n.475A>C
c.4867A>C (p.Ile1623Leu)
11g.121145921A>GCA383022768TBCEL-TECTA,TECTAc.3910A>G (p.Ile1304Val)
c.1217A>G
n.475A>G
c.4867A>G (p.Ile1623Val)
11g.121145921A>TCA229831649TBCEL-TECTA,TECTAc.3910A>T (p.Ile1304Phe)
c.1217A>T
n.475A>T
c.4867A>T (p.Ile1623Phe)
 dbSNP
11g.121145922T>ACA383022769TBCEL-TECTA,TECTAc.3911T>A (p.Ile1304Asn)
c.1218T>A
n.476T>A
c.4868T>A (p.Ile1623Asn)
11g.121145922T>CCA383022770TBCEL-TECTA,TECTAc.3911T>C (p.Ile1304Thr)
c.1218T>C
n.476T>C
c.4868T>C (p.Ile1623Thr)
11g.121145922T>GCA383022771TBCEL-TECTA,TECTAc.3911T>G (p.Ile1304Ser)
c.1218T>G
n.476T>G
c.4868T>G (p.Ile1623Ser)
11g.121145923C>ACA477382949TBCEL-TECTA,TECTAc.3912C>A (p.Ile1304=)
c.1219C>A
n.477C>A
c.4869C>A (p.Ile1623=)
11g.121145923C=CA2004737592TBCEL-TECTA,TECTAc.3912C= (p.Ile1304=)
c.1219C=
n.477C=
c.4869C= (p.Ile1623=)
11g.121145923C>GCA383022772TBCEL-TECTA,TECTAc.3912C>G (p.Ile1304Met)
c.1219C>G
n.477C>G
c.4869C>G (p.Ile1623Met)
11g.121145923C>TCA477382950TBCEL-TECTA,TECTAc.3912C>T (p.Ile1304=)
c.1219C>T
n.477C>T
c.4869C>T (p.Ile1623=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145924C>ACA383022775TBCEL-TECTA,TECTAc.3913C>A (p.Pro1305Thr)
c.1220C>A
n.478C>A
c.4870C>A (p.Pro1624Thr)
11g.121145924C>GCA383022774TBCEL-TECTA,TECTAc.3913C>G (p.Pro1305Ala)
c.1220C>G
n.478C>G
c.4870C>G (p.Pro1624Ala)
 dbSNP
11g.121145924C>TCA383022773TBCEL-TECTA,TECTAc.3913C>T (p.Pro1305Ser)
c.1220C>T
n.478C>T
c.4870C>T (p.Pro1624Ser)
11g.121145925C>ACA383022776TBCEL-TECTA,TECTAc.3914C>A (p.Pro1305His)
c.1221C>A
n.479C>A
c.4871C>A (p.Pro1624His)
11g.121145925C>GCA383022777TBCEL-TECTA,TECTAc.3914C>G (p.Pro1305Arg)
c.1221C>G
n.479C>G
c.4871C>G (p.Pro1624Arg)
11g.121145925C>TCA383022778TBCEL-TECTA,TECTAc.3914C>T (p.Pro1305Leu)
c.1221C>T
n.479C>T
c.4871C>T (p.Pro1624Leu)
11g.121145926C>ACA477382954TBCEL-TECTA,TECTAc.3915C>A (p.Pro1305=)
c.1222C>A
n.480C>A
c.4872C>A (p.Pro1624=)
11g.121145926C=CA2004737593TBCEL-TECTA,TECTAc.3915C= (p.Pro1305=)
c.1222C=
n.480C=
c.4872C= (p.Pro1624=)
11g.121145926C>GCA477382955TBCEL-TECTA,TECTAc.3915C>G (p.Pro1305=)
c.1222C>G
n.480C>G
c.4872C>G (p.Pro1624=)
11g.121145926C>TCA477382953TBCEL-TECTA,TECTAc.3915C>T (p.Pro1305=)
c.1222C>T
n.480C>T
c.4872C>T (p.Pro1624=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.121145927A=CA2004737594TBCEL-TECTA,TECTAc.3916A= (p.Asn1306=)
c.1223A=
n.481A=
c.4873A= (p.Asn1625=)
11g.121145927A>CCA383022779TBCEL-TECTA,TECTAc.3916A>C (p.Asn1306His)
c.1223A>C
n.481A>C
c.4873A>C (p.Asn1625His)
 dbSNP gnomAD v3 gnomAD v4
11g.121145927A>GCA383022780TBCEL-TECTA,TECTAc.3916A>G (p.Asn1306Asp)
c.1223A>G
n.481A>G
c.4873A>G (p.Asn1625Asp)
11g.121145927A>TCA383022781TBCEL-TECTA,TECTAc.3916A>T (p.Asn1306Tyr)
c.1223A>T
n.481A>T
c.4873A>T (p.Asn1625Tyr)
11g.121145928A=CA2004737595TBCEL-TECTA,TECTAc.3917A= (p.Asn1306=)
c.1224A=
n.482A=
c.4874A= (p.Asn1625=)
11g.121145928A>CCA383022782TBCEL-TECTA,TECTAc.3917A>C (p.Asn1306Thr)
c.1224A>C
n.482A>C
c.4874A>C (p.Asn1625Thr)
11g.121145928A>GCA6327310TBCEL-TECTA,TECTAc.3917A>G (p.Asn1306Ser)
c.1224A>G
n.482A>G
c.4874A>G (p.Asn1625Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145928A>TCA6327311TBCEL-TECTA,TECTAc.3917A>T (p.Asn1306Ile)
c.1224A>T
n.482A>T
c.4874A>T (p.Asn1625Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145929C>ACA383022783TBCEL-TECTA,TECTAc.3918C>A (p.Asn1306Lys)
c.1225C>A
n.483C>A
c.4875C>A (p.Asn1625Lys)
 gnomAD v4
11g.121145929C=CA2004737596TBCEL-TECTA,TECTAc.3918C= (p.Asn1306=)
c.1225C=
n.483C=
c.4875C= (p.Asn1625=)
11g.121145929C>GCA383022784TBCEL-TECTA,TECTAc.3918C>G (p.Asn1306Lys)
c.1225C>G
n.483C>G
c.4875C>G (p.Asn1625Lys)
 gnomAD v4
11g.121145929C>TCA477382958TBCEL-TECTA,TECTAc.3918C>T (p.Asn1306=)
c.1225C>T
n.483C>T
c.4875C>T (p.Asn1625=)
 dbSNP
11g.121145930C>ACA383022785TBCEL-TECTA,TECTAc.3919C>A (p.Gln1307Lys)
c.1226C>A
n.484C>A
c.4876C>A (p.Gln1626Lys)
11g.121145930C>GCA383022786TBCEL-TECTA,TECTAc.3919C>G (p.Gln1307Glu)
c.1226C>G
n.484C>G
c.4876C>G (p.Gln1626Glu)
11g.121145930C>TCA383022787TBCEL-TECTA,TECTAc.3919C>T (p.Gln1307Ter)
c.1226C>T
n.484C>T
c.4876C>T (p.Gln1626Ter)
11g.121145931A>CCA383022788TBCEL-TECTA,TECTAc.3920A>C (p.Gln1307Pro)
c.1227A>C
n.485A>C
c.4877A>C (p.Gln1626Pro)
11g.121145931A>GCA383022789TBCEL-TECTA,TECTAc.3920A>G (p.Gln1307Arg)
c.1227A>G
n.485A>G
c.4877A>G (p.Gln1626Arg)
11g.121145931A>TCA383022790TBCEL-TECTA,TECTAc.3920A>T (p.Gln1307Leu)
c.1227A>T
n.485A>T
c.4877A>T (p.Gln1626Leu)
11g.121145932G>ACA477382961TBCEL-TECTA,TECTAc.3921G>A (p.Gln1307=)
c.1228G>A
n.486G>A
c.4878G>A (p.Gln1626=)
11g.121145932G>CCA383022791TBCEL-TECTA,TECTAc.3921G>C (p.Gln1307His)
c.1228G>C
n.486G>C
c.4878G>C (p.Gln1626His)
11g.121145932G>TCA383022792TBCEL-TECTA,TECTAc.3921G>T (p.Gln1307His)
c.1228G>T
n.486G>T
c.4878G>T (p.Gln1626His)
11g.121145933A>CCA383022793TBCEL-TECTA,TECTAc.3922A>C (p.Asn1308His)
c.1229A>C
n.487A>C
c.4879A>C (p.Asn1627His)
11g.121145933A>GCA383022794TBCEL-TECTA,TECTAc.3922A>G (p.Asn1308Asp)
c.1229A>G
n.487A>G
c.4879A>G (p.Asn1627Asp)
11g.121145933A>TCA383022795TBCEL-TECTA,TECTAc.3922A>T (p.Asn1308Tyr)
c.1229A>T
n.487A>T
c.4879A>T (p.Asn1627Tyr)
11g.121145933_121145942delinsAACGCTGCCTCA2004737597TBCEL-TECTA,TECTAc.3922_3931delinsAACGCTGCCT (p.Asn1308=)
c.1229_1238delinsAACGCTGCCT
n.487_496delinsAACGCTGCCT
c.4879_4888delinsAACGCTGCCT (p.Asn1627=)
11g.121145934A>CCA383022796TBCEL-TECTA,TECTAc.3923A>C (p.Asn1308Thr)
c.1230A>C
n.488A>C
c.4880A>C (p.Asn1627Thr)
11g.121145934A>GCA383022797TBCEL-TECTA,TECTAc.3923A>G (p.Asn1308Ser)
c.1230A>G
n.488A>G
c.4880A>G (p.Asn1627Ser)
11g.121145934A>TCA383022798TBCEL-TECTA,TECTAc.3923A>T (p.Asn1308Ile)
c.1230A>T
n.488A>T
c.4880A>T (p.Asn1627Ile)
11g.121145934_121145942delCA2004737598TBCEL-TECTA,TECTAc.3923_3931del (p.Asn1308_Phe1311delinsIle)
c.1230_1238del
n.488_496del
c.4880_4888del (p.Asn1627_Phe1630delinsIle)
 dbSNP
11g.121145935C>ACA383022799TBCEL-TECTA,TECTAc.3924C>A (p.Asn1308Lys)
c.1231C>A
n.489C>A
c.4881C>A (p.Asn1627Lys)
11g.121145935C=CA2004737599TBCEL-TECTA,TECTAc.3924C= (p.Asn1308=)
c.1231C=
n.489C=
c.4881C= (p.Asn1627=)
11g.121145935C>GCA383022800TBCEL-TECTA,TECTAc.3924C>G (p.Asn1308Lys)
c.1231C>G
n.489C>G
c.4881C>G (p.Asn1627Lys)
11g.121145935C>TCA229831666TBCEL-TECTA,TECTAc.3924C>T (p.Asn1308=)
c.1231C>T
n.489C>T
c.4881C>T (p.Asn1627=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121145936G>ACA183713TBCEL-TECTA,TECTAc.3925G>A (p.Ala1309Thr)
c.1232G>A
n.490G>A
c.4882G>A (p.Ala1628Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121145936G>CCA383022801TBCEL-TECTA,TECTAc.3925G>C (p.Ala1309Pro)
c.1232G>C
n.490G>C
c.4882G>C (p.Ala1628Pro)
11g.121145936G=CA2004737600TBCEL-TECTA,TECTAc.3925G= (p.Ala1309=)
c.1232G=
n.490G=
c.4882G= (p.Ala1628=)
11g.121145936G>TCA6327312TBCEL-TECTA,TECTAc.3925G>T (p.Ala1309Ser)
c.1232G>T
n.490G>T
c.4882G>T (p.Ala1628Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121145937C>ACA383022802TBCEL-TECTA,TECTAc.3926C>A (p.Ala1309Asp)
c.1233C>A
n.491C>A
c.4883C>A (p.Ala1628Asp)
 gnomAD v4
11g.121145937C>GCA383022803TBCEL-TECTA,TECTAc.3926C>G (p.Ala1309Gly)
c.1233C>G
n.491C>G
c.4883C>G (p.Ala1628Gly)
11g.121145937C>TCA383022804TBCEL-TECTA,TECTAc.3926C>T (p.Ala1309Val)
c.1233C>T
n.491C>T
c.4883C>T (p.Ala1628Val)
11g.121145938T>ACA477382970TBCEL-TECTA,TECTAc.3927T>A (p.Ala1309=)
c.1234T>A
n.492T>A
c.4884T>A (p.Ala1628=)
 gnomAD v4
11g.121145938T>CCA477382971TBCEL-TECTA,TECTAc.3927T>C (p.Ala1309=)
c.1234T>C
n.492T>C
c.4884T>C (p.Ala1628=)
11g.121145938T>GCA477382969TBCEL-TECTA,TECTAc.3927T>G (p.Ala1309=)
c.1234T>G
n.492T>G
c.4884T>G (p.Ala1628=)
11g.121145939G>ACA383022805TBCEL-TECTA,TECTAc.3928G>A (p.Ala1310Thr)
c.1235G>A
n.493G>A
c.4885G>A (p.Ala1629Thr)
11g.121145939G>CCA383022806TBCEL-TECTA,TECTAc.3928G>C (p.Ala1310Pro)
c.1235G>C
n.493G>C
c.4885G>C (p.Ala1629Pro)
11g.121145939G>TCA383022807TBCEL-TECTA,TECTAc.3928G>T (p.Ala1310Ser)
c.1235G>T
n.493G>T
c.4885G>T (p.Ala1629Ser)
 COSMIC
11g.121145940C>ACA383022808TBCEL-TECTA,TECTAc.3929C>A (p.Ala1310Asp)
c.1236C>A
n.494C>A
c.4886C>A (p.Ala1629Asp)
11g.121145940C>GCA383022809TBCEL-TECTA,TECTAc.3929C>G (p.Ala1310Gly)
c.1236C>G
n.494C>G
c.4886C>G (p.Ala1629Gly)
11g.121145940C>TCA383022810TBCEL-TECTA,TECTAc.3929C>T (p.Ala1310Val)
c.1236C>T
n.494C>T
c.4886C>T (p.Ala1629Val)
11g.121145941C>ACA477382973TBCEL-TECTA,TECTAc.3930C>A (p.Ala1310=)
c.1237C>A
n.495C>A
c.4887C>A (p.Ala1629=)
11g.121145941C>GCA477382974TBCEL-TECTA,TECTAc.3930C>G (p.Ala1310=)
c.1237C>G
n.495C>G
c.4887C>G (p.Ala1629=)
11g.121145941C>TCA477382976TBCEL-TECTA,TECTAc.3930C>T (p.Ala1310=)
c.1237C>T
n.495C>T
c.4887C>T (p.Ala1629=)
11g.121145942T>ACA383022811TBCEL-TECTA,TECTAc.3931T>A (p.Phe1311Ile)
c.1238T>A
n.496T>A
c.4888T>A (p.Phe1630Ile)
11g.121145942T>CCA383022813TBCEL-TECTA,TECTAc.3931T>C (p.Phe1311Leu)
c.1238T>C
n.496T>C
c.4888T>C (p.Phe1630Leu)
11g.121145942T>GCA383022812TBCEL-TECTA,TECTAc.3931T>G (p.Phe1311Val)
c.1238T>G
n.496T>G
c.4888T>G (p.Phe1630Val)

Number of alleles fetched