Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121137607A=CA2004733799TBCEL-TECTA,TECTAc.3128A= (p.His1043=)
c.435A=
c.4085A= (p.His1362=)
11g.121137607A>CCA383019009TBCEL-TECTA,TECTAc.3128A>C (p.His1043Pro)
c.435A>C
c.4085A>C (p.His1362Pro)
 ClinVar dbSNP gnomAD v4
11g.121137607A>GCA383019010TBCEL-TECTA,TECTAc.3128A>G (p.His1043Arg)
c.435A>G
c.4085A>G (p.His1362Arg)
 gnomAD v4
11g.121137607A>TCA383019011TBCEL-TECTA,TECTAc.3128A>T (p.His1043Leu)
c.435A>T
c.4085A>T (p.His1362Leu)
11g.121137608C>ACA383019012TBCEL-TECTA,TECTAc.3129C>A (p.His1043Gln)
c.436C>A
c.4086C>A (p.His1362Gln)
11g.121137608C>GCA383019013TBCEL-TECTA,TECTAc.3129C>G (p.His1043Gln)
c.436C>G
c.4086C>G (p.His1362Gln)
11g.121137608C>TCA477382646TBCEL-TECTA,TECTAc.3129C>T (p.His1043=)
c.436C>T
c.4086C>T (p.His1362=)
11g.121137609C>ACA383019014TBCEL-TECTA,TECTAc.3130C>A (p.Gln1044Lys)
c.437C>A
c.4087C>A (p.Gln1363Lys)
 gnomAD v4
11g.121137609C=CA2004733802TBCEL-TECTA,TECTAc.3130C= (p.Gln1044=)
c.437C=
c.4087C= (p.Gln1363=)
11g.121137609C>GCA6327159TBCEL-TECTA,TECTAc.3130C>G (p.Gln1044Glu)
c.437C>G
c.4087C>G (p.Gln1363Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137609C>TCA383019015TBCEL-TECTA,TECTAc.3130C>T (p.Gln1044Ter)
c.437C>T
c.4087C>T (p.Gln1363Ter)
11g.121137610A>CCA383019017TBCEL-TECTA,TECTAc.3131A>C (p.Gln1044Pro)
c.438A>C
c.4088A>C (p.Gln1363Pro)
11g.121137610A>GCA383019018TBCEL-TECTA,TECTAc.3131A>G (p.Gln1044Arg)
c.438A>G
c.4088A>G (p.Gln1363Arg)
 gnomAD v4
11g.121137610A>TCA383019016TBCEL-TECTA,TECTAc.3131A>T (p.Gln1044Leu)
c.438A>T
c.4088A>T (p.Gln1363Leu)
11g.121137611A=CA2004733804TBCEL-TECTA,TECTAc.3132A= (p.Gln1044=)
c.439A=
c.4089A= (p.Gln1363=)
11g.121137611A>CCA10630121TBCEL-TECTA,TECTAc.3132A>C (p.Gln1044His)
c.439A>C
c.4089A>C (p.Gln1363His)
 ClinVar dbSNP
11g.121137611A>GCA477382651TBCEL-TECTA,TECTAc.3132A>G (p.Gln1044=)
c.439A>G
c.4089A>G (p.Gln1363=)
 gnomAD v4
11g.121137611A>TCA383019019TBCEL-TECTA,TECTAc.3132A>T (p.Gln1044His)
c.439A>T
c.4089A>T (p.Gln1363His)
11g.121137612C>ACA383019020TBCEL-TECTA,TECTAc.3133C>A (p.Leu1045Ile)
c.440C>A
c.4090C>A (p.Leu1364Ile)
11g.121137612C>GCA383019021TBCEL-TECTA,TECTAc.3133C>G (p.Leu1045Val)
c.440C>G
c.4090C>G (p.Leu1364Val)
11g.121137612C>TCA383019022TBCEL-TECTA,TECTAc.3133C>T (p.Leu1045Phe)
c.440C>T
c.4090C>T (p.Leu1364Phe)
11g.121137613T>ACA383019023TBCEL-TECTA,TECTAc.3134T>A (p.Leu1045His)
c.441T>A
c.4091T>A (p.Leu1364His)
 COSMIC
11g.121137613T>CCA383019024TBCEL-TECTA,TECTAc.3134T>C (p.Leu1045Pro)
c.441T>C
c.4091T>C (p.Leu1364Pro)
11g.121137613T>GCA383019025TBCEL-TECTA,TECTAc.3134T>G (p.Leu1045Arg)
c.441T>G
c.4091T>G (p.Leu1364Arg)
 COSMIC
11g.121137614T>ACA477382656TBCEL-TECTA,TECTAc.3135T>A (p.Leu1045=)
c.442T>A
c.4092T>A (p.Leu1364=)
11g.121137614T>CCA477382661TBCEL-TECTA,TECTAc.3135T>C (p.Leu1045=)
c.442T>C
c.4092T>C (p.Leu1364=)
11g.121137614T>GCA477382658TBCEL-TECTA,TECTAc.3135T>G (p.Leu1045=)
c.442T>G
c.4092T>G (p.Leu1364=)
11g.121137615G>ACA383019026TBCEL-TECTA,TECTAc.3136G>A (p.Ala1046Thr)
c.443G>A
c.4093G>A (p.Ala1365Thr)
11g.121137615G>CCA383019027TBCEL-TECTA,TECTAc.3136G>C (p.Ala1046Pro)
c.443G>C
c.4093G>C (p.Ala1365Pro)
11g.121137615G>TCA383019028TBCEL-TECTA,TECTAc.3136G>T (p.Ala1046Ser)
c.443G>T
c.4093G>T (p.Ala1365Ser)
11g.121137616C>ACA383019029TBCEL-TECTA,TECTAc.3137C>A (p.Ala1046Asp)
c.444C>A
c.4094C>A (p.Ala1365Asp)
 COSMIC
11g.121137616C>GCA383019030TBCEL-TECTA,TECTAc.3137C>G (p.Ala1046Gly)
c.444C>G
c.4094C>G (p.Ala1365Gly)
11g.121137616C>TCA383019031TBCEL-TECTA,TECTAc.3137C>T (p.Ala1046Val)
c.444C>T
c.4094C>T (p.Ala1365Val)
11g.121137617C>ACA477382666TBCEL-TECTA,TECTAc.3138C>A (p.Ala1046=)
c.445C>A
c.4095C>A (p.Ala1365=)
11g.121137617C=CA2004733806TBCEL-TECTA,TECTAc.3138C= (p.Ala1046=)
c.445C=
c.4095C= (p.Ala1365=)
11g.121137617C>GCA477382667TBCEL-TECTA,TECTAc.3138C>G (p.Ala1046=)
c.445C>G
c.4095C>G (p.Ala1365=)
11g.121137617C>TCA10633811TBCEL-TECTA,TECTAc.3138C>T (p.Ala1046=)
c.445C>T
c.4095C>T (p.Ala1365=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137618A>CCA383019032TBCEL-TECTA,TECTAc.3139A>C (p.Thr1047Pro)
c.446A>C
c.4096A>C (p.Thr1366Pro)
11g.121137618A>GCA383019034TBCEL-TECTA,TECTAc.3139A>G (p.Thr1047Ala)
c.446A>G
c.4096A>G (p.Thr1366Ala)
11g.121137618A>TCA383019033TBCEL-TECTA,TECTAc.3139A>T (p.Thr1047Ser)
c.446A>T
c.4096A>T (p.Thr1366Ser)
11g.121137621_121137629delCA2793886326TBCEL-TECTA,TECTAc.3142_3150del (p.Asn1048_Thr1050del)
c.449_457del
c.4099_4107del (p.Asn1367_Thr1369del)
11g.121137619C>ACA383019035TBCEL-TECTA,TECTAc.3140C>A (p.Thr1047Asn)
c.447C>A
c.4097C>A (p.Thr1366Asn)
 gnomAD v4
11g.121137619C=CA2004733808TBCEL-TECTA,TECTAc.3140C= (p.Thr1047=)
c.447C=
c.4097C= (p.Thr1366=)
11g.121137619C>GCA383019036TBCEL-TECTA,TECTAc.3140C>G (p.Thr1047Ser)
c.447C>G
c.4097C>G (p.Thr1366Ser)
 dbSNP
11g.121137619C>TCA383019037TBCEL-TECTA,TECTAc.3140C>T (p.Thr1047Ile)
c.447C>T
c.4097C>T (p.Thr1366Ile)
11g.121137620C>ACA229825543TBCEL-TECTA,TECTAc.3141C>A (p.Thr1047=)
c.448C>A
c.4098C>A (p.Thr1366=)
 dbSNP gnomAD v4
11g.121137620C=CA2004733810TBCEL-TECTA,TECTAc.3141C= (p.Thr1047=)
c.448C=
c.4098C= (p.Thr1366=)
11g.121137620C>GCA477382672TBCEL-TECTA,TECTAc.3141C>G (p.Thr1047=)
c.448C>G
c.4098C>G (p.Thr1366=)
11g.121137620C>TCA477382674TBCEL-TECTA,TECTAc.3141C>T (p.Thr1047=)
c.448C>T
c.4098C>T (p.Thr1366=)
 gnomAD v4
11g.121137621A>CCA383019038TBCEL-TECTA,TECTAc.3142A>C (p.Asn1048His)
c.449A>C
c.4099A>C (p.Asn1367His)
11g.121137621A>GCA383019039TBCEL-TECTA,TECTAc.3142A>G (p.Asn1048Asp)
c.449A>G
c.4099A>G (p.Asn1367Asp)
11g.121137621A>TCA383019040TBCEL-TECTA,TECTAc.3142A>T (p.Asn1048Tyr)
c.449A>T
c.4099A>T (p.Asn1367Tyr)
11g.121137622A=CA2004733812TBCEL-TECTA,TECTAc.3143A= (p.Asn1048=)
c.450A=
c.4100A= (p.Asn1367=)
11g.121137622A>CCA383019041TBCEL-TECTA,TECTAc.3143A>C (p.Asn1048Thr)
c.450A>C
c.4100A>C (p.Asn1367Thr)
11g.121137622A>GCA6327160TBCEL-TECTA,TECTAc.3143A>G (p.Asn1048Ser)
c.450A>G
c.4100A>G (p.Asn1367Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137622A>TCA383019042TBCEL-TECTA,TECTAc.3143A>T (p.Asn1048Ile)
c.450A>T
c.4100A>T (p.Asn1367Ile)
11g.121137623T>ACA383019043TBCEL-TECTA,TECTAc.3144T>A (p.Asn1048Lys)
c.451T>A
c.4101T>A (p.Asn1367Lys)
11g.121137623T>CCA477382677TBCEL-TECTA,TECTAc.3144T>C (p.Asn1048=)
c.451T>C
c.4101T>C (p.Asn1367=)
11g.121137623T>GCA383019044TBCEL-TECTA,TECTAc.3144T>G (p.Asn1048Lys)
c.451T>G
c.4101T>G (p.Asn1367Lys)
 gnomAD v3 gnomAD v4
11g.121137624G>ACA383019047TBCEL-TECTA,TECTAc.3145G>A (p.Glu1049Lys)
c.452G>A
c.4102G>A (p.Glu1368Lys)
11g.121137624G>CCA383019046TBCEL-TECTA,TECTAc.3145G>C (p.Glu1049Gln)
c.452G>C
c.4102G>C (p.Glu1368Gln)
11g.121137624G>TCA383019045TBCEL-TECTA,TECTAc.3145G>T (p.Glu1049Ter)
c.452G>T
c.4102G>T (p.Glu1368Ter)
11g.121137625A=CA2004733813TBCEL-TECTA,TECTAc.3146A= (p.Glu1049=)
c.453A=
c.4103A= (p.Glu1368=)
11g.121137625A>CCA383019050TBCEL-TECTA,TECTAc.3146A>C (p.Glu1049Ala)
c.453A>C
c.4103A>C (p.Glu1368Ala)
11g.121137625A>GCA383019048TBCEL-TECTA,TECTAc.3146A>G (p.Glu1049Gly)
c.453A>G
c.4103A>G (p.Glu1368Gly)
 dbSNP
11g.121137625A>TCA383019049TBCEL-TECTA,TECTAc.3146A>T (p.Glu1049Val)
c.453A>T
c.4103A>T (p.Glu1368Val)
11g.121137626G>ACA477382683TBCEL-TECTA,TECTAc.3147G>A (p.Glu1049=)
c.454G>A
c.4104G>A (p.Glu1368=)
11g.121137626G>CCA383019051TBCEL-TECTA,TECTAc.3147G>C (p.Glu1049Asp)
c.454G>C
c.4104G>C (p.Glu1368Asp)
11g.121137626G>TCA383019052TBCEL-TECTA,TECTAc.3147G>T (p.Glu1049Asp)
c.454G>T
c.4104G>T (p.Glu1368Asp)
11g.121137627A>CCA383019053TBCEL-TECTA,TECTAc.3148A>C (p.Thr1050Pro)
c.455A>C
c.4105A>C (p.Thr1369Pro)
11g.121137627A>GCA383019054TBCEL-TECTA,TECTAc.3148A>G (p.Thr1050Ala)
c.455A>G
c.4105A>G (p.Thr1369Ala)
11g.121137627A>TCA383019055TBCEL-TECTA,TECTAc.3148A>T (p.Thr1050Ser)
c.455A>T
c.4105A>T (p.Thr1369Ser)
11g.121137628C>ACA383019056TBCEL-TECTA,TECTAc.3149C>A (p.Thr1050Asn)
c.456C>A
c.4106C>A (p.Thr1369Asn)
 dbSNP
11g.121137628C=CA2004733816TBCEL-TECTA,TECTAc.3149C= (p.Thr1050=)
c.456C=
c.4106C= (p.Thr1369=)
11g.121137628C>GCA383019058TBCEL-TECTA,TECTAc.3149C>G (p.Thr1050Ser)
c.456C>G
c.4106C>G (p.Thr1369Ser)
11g.121137628C>TCA383019057TBCEL-TECTA,TECTAc.3149C>T (p.Thr1050Ile)
c.456C>T
c.4106C>T (p.Thr1369Ile)
 gnomAD v4
11g.121137628_121137631delinsCCTTCA2004733815TBCEL-TECTA,TECTAc.3149_3152delinsCCTT (p.Thr1050=)
c.456_459delinsCCTT
c.4106_4109delinsCCTT (p.Thr1369=)
11g.121137629C>ACA6327161TBCEL-TECTA,TECTAc.3150C>A (p.Thr1050=)
c.457C>A
c.4107C>A (p.Thr1369=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137629C=CA2004733819TBCEL-TECTA,TECTAc.3150C= (p.Thr1050=)
c.457C=
c.4107C= (p.Thr1369=)
11g.121137629C>GCA477382690TBCEL-TECTA,TECTAc.3150C>G (p.Thr1050=)
c.457C>G
c.4107C>G (p.Thr1369=)
11g.121137629C>TCA477382689TBCEL-TECTA,TECTAc.3150C>T (p.Thr1050=)
c.457C>T
c.4107C>T (p.Thr1369=)
 dbSNP gnomAD v4
11g.121137631_121137633delCA602580272TBCEL-TECTA,TECTAc.3152_3154del (p.Phe1051del)
c.459_461del
c.4109_4111del (p.Phe1370del)
 dbSNP gnomAD v2 gnomAD v4
11g.121137630T>ACA383019059TBCEL-TECTA,TECTAc.3151T>A (p.Phe1051Ile)
c.458T>A
c.4108T>A (p.Phe1370Ile)
11g.121137630T>CCA383019060TBCEL-TECTA,TECTAc.3151T>C (p.Phe1051Leu)
c.458T>C
c.4108T>C (p.Phe1370Leu)
 gnomAD v4
11g.121137630T>GCA383019061TBCEL-TECTA,TECTAc.3151T>G (p.Phe1051Val)
c.458T>G
c.4108T>G (p.Phe1370Val)
 dbSNP gnomAD v2 gnomAD v4
11g.121137630T=CA2004733821TBCEL-TECTA,TECTAc.3151T= (p.Phe1051=)
c.458T=
c.4108T= (p.Phe1370=)
11g.121137631T>ACA383019062TBCEL-TECTA,TECTAc.3152T>A (p.Phe1051Tyr)
c.459T>A
c.4109T>A (p.Phe1370Tyr)
11g.121137631T>CCA383019064TBCEL-TECTA,TECTAc.3152T>C (p.Phe1051Ser)
c.459T>C
c.4109T>C (p.Phe1370Ser)
11g.121137631T>GCA383019063TBCEL-TECTA,TECTAc.3152T>G (p.Phe1051Cys)
c.459T>G
c.4109T>G (p.Phe1370Cys)
11g.121137632C>ACA383019065TBCEL-TECTA,TECTAc.3153C>A (p.Phe1051Leu)
c.460C>A
c.4110C>A (p.Phe1370Leu)
11g.121137632C>GCA383019066TBCEL-TECTA,TECTAc.3153C>G (p.Phe1051Leu)
c.460C>G
c.4110C>G (p.Phe1370Leu)
11g.121137632C>TCA477382700TBCEL-TECTA,TECTAc.3153C>T (p.Phe1051=)
c.460C>T
c.4110C>T (p.Phe1370=)
11g.121137633T>ACA383019067TBCEL-TECTA,TECTAc.3154T>A (p.Trp1052Arg)
c.461T>A
c.4111T>A (p.Trp1371Arg)
11g.121137633T>CCA383019068TBCEL-TECTA,TECTAc.3154T>C (p.Trp1052Arg)
c.461T>C
c.4111T>C (p.Trp1371Arg)
11g.121137633T>GCA6327162TBCEL-TECTA,TECTAc.3154T>G (p.Trp1052Gly)
c.461T>G
c.4111T>G (p.Trp1371Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137633T=CA2004733823TBCEL-TECTA,TECTAc.3154T= (p.Trp1052=)
c.461T=
c.4111T= (p.Trp1371=)
11g.121137634G>ACA383019069TBCEL-TECTA,TECTAc.3155G>A (p.Trp1052Ter)
c.462G>A
c.4112G>A (p.Trp1371Ter)
11g.121137634G>CCA383019070TBCEL-TECTA,TECTAc.3155G>C (p.Trp1052Ser)
c.462G>C
c.4112G>C (p.Trp1371Ser)
11g.121137634G>TCA383019071TBCEL-TECTA,TECTAc.3155G>T (p.Trp1052Leu)
c.462G>T
c.4112G>T (p.Trp1371Leu)
11g.121137635G>ACA383019072TBCEL-TECTA,TECTAc.3156G>A (p.Trp1052Ter)
c.463G>A
c.4113G>A (p.Trp1371Ter)
 ClinVar dbSNP
11g.121137635G>CCA383019073TBCEL-TECTA,TECTAc.3156G>C (p.Trp1052Cys)
c.463G>C
c.4113G>C (p.Trp1371Cys)
11g.121137635G=CA2004733825TBCEL-TECTA,TECTAc.3156G= (p.Trp1052=)
c.463G=
c.4113G= (p.Trp1371=)
11g.121137635G>TCA383019074TBCEL-TECTA,TECTAc.3156G>T (p.Trp1052Cys)
c.463G>T
c.4113G>T (p.Trp1371Cys)
 ClinVar
11g.121137636G>ACA383019076TBCEL-TECTA,TECTAc.3157G>A (p.Val1053Met)
c.464G>A
c.4114G>A (p.Val1372Met)
 dbSNP gnomAD v2 gnomAD v4
11g.121137636G>CCA383019077TBCEL-TECTA,TECTAc.3157G>C (p.Val1053Leu)
c.464G>C
c.4114G>C (p.Val1372Leu)
11g.121137636G=CA2004733828TBCEL-TECTA,TECTAc.3157G= (p.Val1053=)
c.464G=
c.4114G= (p.Val1372=)
11g.121137636G>TCA383019075TBCEL-TECTA,TECTAc.3157G>T (p.Val1053Leu)
c.464G>T
c.4114G>T (p.Val1372Leu)
11g.121137637T>ACA383019078TBCEL-TECTA,TECTAc.3158T>A (p.Val1053Glu)
c.465T>A
c.4115T>A (p.Val1372Glu)
11g.121137637T>CCA383019080TBCEL-TECTA,TECTAc.3158T>C (p.Val1053Ala)
c.465T>C
c.4115T>C (p.Val1372Ala)
11g.121137637T>GCA383019079TBCEL-TECTA,TECTAc.3158T>G (p.Val1053Gly)
c.465T>G
c.4115T>G (p.Val1372Gly)
11g.121137638G>ACA477382711TBCEL-TECTA,TECTAc.3159G>A (p.Val1053=)
c.466G>A
c.4116G>A (p.Val1372=)
11g.121137638G>CCA477382712TBCEL-TECTA,TECTAc.3159G>C (p.Val1053=)
c.466G>C
c.4116G>C (p.Val1372=)
11g.121137638G>TCA477382713TBCEL-TECTA,TECTAc.3159G>T (p.Val1053=)
c.466G>T
c.4116G>T (p.Val1372=)
11g.121137639G>ACA383019081TBCEL-TECTA,TECTAc.3160G>A (p.Asp1054Asn)
c.467G>A
c.4117G>A (p.Asp1373Asn)
11g.121137639G>CCA383019082TBCEL-TECTA,TECTAc.3160G>C (p.Asp1054His)
c.467G>C
c.4117G>C (p.Asp1373His)
11g.121137639G>TCA383019083TBCEL-TECTA,TECTAc.3160G>T (p.Asp1054Tyr)
c.467G>T
c.4117G>T (p.Asp1373Tyr)
11g.121137640A>CCA383019084TBCEL-TECTA,TECTAc.3161A>C (p.Asp1054Ala)
c.468A>C
c.4118A>C (p.Asp1373Ala)
11g.121137640A>GCA383019085TBCEL-TECTA,TECTAc.3161A>G (p.Asp1054Gly)
c.468A>G
c.4118A>G (p.Asp1373Gly)
 gnomAD v4
11g.121137640A>TCA383019086TBCEL-TECTA,TECTAc.3161A>T (p.Asp1054Val)
c.468A>T
c.4118A>T (p.Asp1373Val)
11g.121137641C>ACA383019087TBCEL-TECTA,TECTAc.3162C>A (p.Asp1054Glu)
c.469C>A
c.4119C>A (p.Asp1373Glu)
11g.121137641C>GCA383019088TBCEL-TECTA,TECTAc.3162C>G (p.Asp1054Glu)
c.469C>G
c.4119C>G (p.Asp1373Glu)
11g.121137641C>TCA477382723TBCEL-TECTA,TECTAc.3162C>T (p.Asp1054=)
c.469C>T
c.4119C>T (p.Asp1373=)
11g.121137642C>ACA383019089TBCEL-TECTA,TECTAc.3163C>A (p.Leu1055Met)
c.470C>A
c.4120C>A (p.Leu1374Met)
11g.121137642C=CA2004733830TBCEL-TECTA,TECTAc.3163C= (p.Leu1055=)
c.470C=
c.4120C= (p.Leu1374=)
11g.121137642C>GCA383019090TBCEL-TECTA,TECTAc.3163C>G (p.Leu1055Val)
c.470C>G
c.4120C>G (p.Leu1374Val)
 dbSNP
11g.121137642C>TCA477382369TBCEL-TECTA,TECTAc.3163C>T (p.Leu1055=)
c.470C>T
c.4120C>T (p.Leu1374=)
11g.121137643T>ACA383019093TBCEL-TECTA,TECTAc.3164T>A (p.Leu1055Gln)
c.471T>A
c.4121T>A (p.Leu1374Gln)
11g.121137643T>CCA383019092TBCEL-TECTA,TECTAc.3164T>C (p.Leu1055Pro)
c.471T>C
c.4121T>C (p.Leu1374Pro)
 dbSNP gnomAD v2 gnomAD v4
11g.121137643T>GCA383019091TBCEL-TECTA,TECTAc.3164T>G (p.Leu1055Arg)
c.471T>G
c.4121T>G (p.Leu1374Arg)
11g.121137643T=CA2004733832TBCEL-TECTA,TECTAc.3164T= (p.Leu1055=)
c.471T=
c.4121T= (p.Leu1374=)
11g.121137644G>ACA477382372TBCEL-TECTA,TECTAc.3165G>A (p.Leu1055=)
c.472G>A
c.4122G>A (p.Leu1374=)
11g.121137644G>CCA477382373TBCEL-TECTA,TECTAc.3165G>C (p.Leu1055=)
c.472G>C
c.4122G>C (p.Leu1374=)
11g.121137644G>TCA477382374TBCEL-TECTA,TECTAc.3165G>T (p.Leu1055=)
c.472G>T
c.4122G>T (p.Leu1374=)
11g.121137645G>ACA383019094TBCEL-TECTA,TECTAc.3166G>A (p.Asp1056Asn)
c.473G>A
c.4123G>A (p.Asp1375Asn)
11g.121137645G>CCA383019095TBCEL-TECTA,TECTAc.3166G>C (p.Asp1056His)
c.473G>C
c.4123G>C (p.Asp1375His)
 gnomAD v4
11g.121137645G>TCA383019096TBCEL-TECTA,TECTAc.3166G>T (p.Asp1056Tyr)
c.473G>T
c.4123G>T (p.Asp1375Tyr)
11g.121137645_121137646delinsGACA2004733834TBCEL-TECTA,TECTAc.3166_3167delinsGA (p.Asp1056=)
c.473_474delinsGA
c.4123_4124delinsGA (p.Asp1375=)
11g.121137646delCA477382376TBCEL-TECTA,TECTAc.3167del (p.Asp1056AlafsTer?)
c.474del
c.4124del (p.Asp1375AlafsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.121137646A>CCA383019097TBCEL-TECTA,TECTAc.3167A>C (p.Asp1056Ala)
c.474A>C
c.4124A>C (p.Asp1375Ala)
11g.121137646A>GCA383019098TBCEL-TECTA,TECTAc.3167A>G (p.Asp1056Gly)
c.474A>G
c.4124A>G (p.Asp1375Gly)
11g.121137646A>TCA383019099TBCEL-TECTA,TECTAc.3167A>T (p.Asp1056Val)
c.474A>T
c.4124A>T (p.Asp1375Val)
11g.121137647C>ACA383019100TBCEL-TECTA,TECTAc.3168C>A (p.Asp1056Glu)
c.475C>A
c.4125C>A (p.Asp1375Glu)
11g.121137647C>GCA383019101TBCEL-TECTA,TECTAc.3168C>G (p.Asp1056Glu)
c.475C>G
c.4125C>G (p.Asp1375Glu)
11g.121137647C>TCA477382378TBCEL-TECTA,TECTAc.3168C>T (p.Asp1056=)
c.475C>T
c.4125C>T (p.Asp1375=)
11g.121137648T>ACA254067TBCEL-TECTA,TECTAc.3169T>A (p.Cys1057Ser)
c.476T>A
c.4126T>A (p.Cys1376Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137648T>CCA383019102TBCEL-TECTA,TECTAc.3169T>C (p.Cys1057Arg)
c.476T>C
c.4126T>C (p.Cys1376Arg)
11g.121137648T>GCA383019103TBCEL-TECTA,TECTAc.3169T>G (p.Cys1057Gly)
c.476T>G
c.4126T>G (p.Cys1376Gly)
11g.121137648T=CA2004733837TBCEL-TECTA,TECTAc.3169T= (p.Cys1057=)
c.476T=
c.4126T= (p.Cys1376=)
11g.121137648dupCA477382379TBCEL-TECTA,TECTAc.3169dup (p.Cys1057LeufsTer24)
c.476dup
c.4126dup (p.Cys1376LeufsTer24)
11g.121137649G>ACA383019105TBCEL-TECTA,TECTAc.3170G>A (p.Cys1057Tyr)
c.477G>A
c.4127G>A (p.Cys1376Tyr)
11g.121137649G>CCA383019106TBCEL-TECTA,TECTAc.3170G>C (p.Cys1057Ser)
c.477G>C
c.4127G>C (p.Cys1376Ser)
11g.121137649G>TCA383019104TBCEL-TECTA,TECTAc.3170G>T (p.Cys1057Phe)
c.477G>T
c.4127G>T (p.Cys1376Phe)
11g.121137650C>ACA383019107TBCEL-TECTA,TECTAc.3171C>A (p.Cys1057Ter)
c.478C>A
c.4128C>A (p.Cys1376Ter)
 dbSNP gnomAD v2 gnomAD v4
11g.121137650C=CA2004733839TBCEL-TECTA,TECTAc.3171C= (p.Cys1057=)
c.478C=
c.4128C= (p.Cys1376=)
11g.121137650C>GCA383019108TBCEL-TECTA,TECTAc.3171C>G (p.Cys1057Trp)
c.478C>G
c.4128C>G (p.Cys1376Trp)
11g.121137650C>TCA477382382TBCEL-TECTA,TECTAc.3171C>T (p.Cys1057=)
c.478C>T
c.4128C>T (p.Cys1376=)
 dbSNP COSMIC
11g.121137651C>ACA383019109TBCEL-TECTA,TECTAc.3172C>A (p.Gln1058Lys)
c.479C>A
c.4129C>A (p.Gln1377Lys)
11g.121137651C>GCA383019110TBCEL-TECTA,TECTAc.3172C>G (p.Gln1058Glu)
c.479C>G
c.4129C>G (p.Gln1377Glu)
11g.121137651C>TCA383019111TBCEL-TECTA,TECTAc.3172C>T (p.Gln1058Ter)
c.479C>T
c.4129C>T (p.Gln1377Ter)
11g.121137652A>CCA383019114TBCEL-TECTA,TECTAc.3173A>C (p.Gln1058Pro)
c.480A>C
c.4130A>C (p.Gln1377Pro)
11g.121137652A>GCA383019112TBCEL-TECTA,TECTAc.3173A>G (p.Gln1058Arg)
c.480A>G
c.4130A>G (p.Gln1377Arg)
11g.121137652A>TCA383019113TBCEL-TECTA,TECTAc.3173A>T (p.Gln1058Leu)
c.480A>T
c.4130A>T (p.Gln1377Leu)
11g.121137653G>ACA477382385TBCEL-TECTA,TECTAc.3174G>A (p.Gln1058=)
c.481G>A
c.4131G>A (p.Gln1377=)
11g.121137653G>CCA383019115TBCEL-TECTA,TECTAc.3174G>C (p.Gln1058His)
c.481G>C
c.4131G>C (p.Gln1377His)
11g.121137653G>TCA383019116TBCEL-TECTA,TECTAc.3174G>T (p.Gln1058His)
c.481G>T
c.4131G>T (p.Gln1377His)
11g.121137654A=CA2004733841TBCEL-TECTA,TECTAc.3175A= (p.Ile1059=)
c.482A=
c.4132A= (p.Ile1378=)
11g.121137654A>CCA383019117TBCEL-TECTA,TECTAc.3175A>C (p.Ile1059Leu)
c.482A>C
c.4132A>C (p.Ile1378Leu)
 dbSNP gnomAD v2 gnomAD v4
11g.121137654A>GCA383019118TBCEL-TECTA,TECTAc.3175A>G (p.Ile1059Val)
c.482A>G
c.4132A>G (p.Ile1378Val)
11g.121137654A>TCA383019119TBCEL-TECTA,TECTAc.3175A>T (p.Ile1059Phe)
c.482A>T
c.4132A>T (p.Ile1378Phe)
11g.121137654_121137657delinsATCTCA2004733842TBCEL-TECTA,TECTAc.3175_3178delinsATCT (p.Ile1059=)
c.482_485delinsATCT
c.4132_4135delinsATCT (p.Ile1378=)
11g.121137655T>ACA383019120TBCEL-TECTA,TECTAc.3176T>A (p.Ile1059Asn)
c.483T>A
c.4133T>A (p.Ile1378Asn)
11g.121137655T>CCA383019122TBCEL-TECTA,TECTAc.3176T>C (p.Ile1059Thr)
c.483T>C
c.4133T>C (p.Ile1378Thr)
11g.121137655T>GCA383019121TBCEL-TECTA,TECTAc.3176T>G (p.Ile1059Ser)
c.483T>G
c.4133T>G (p.Ile1378Ser)
11g.121137655dupCA2616511739TBCEL-TECTA,TECTAc.3176dup (p.Phe1060LeufsTer21)
c.483dup
c.4133dup (p.Phe1379LeufsTer21)
 gnomAD v4
11g.121137658_121137660delCA2004733844TBCEL-TECTA,TECTAc.3179_3181del (p.Phe1060del)
c.486_488del
c.4136_4138del (p.Phe1379del)
 dbSNP gnomAD v4
11g.121137656C>ACA477382389TBCEL-TECTA,TECTAc.3177C>A (p.Ile1059=)
c.484C>A
c.4134C>A (p.Ile1378=)
 dbSNP gnomAD v2 gnomAD v4
11g.121137656C=CA2004733845TBCEL-TECTA,TECTAc.3177C= (p.Ile1059=)
c.484C=
c.4134C= (p.Ile1378=)
11g.121137656C>GCA383019123TBCEL-TECTA,TECTAc.3177C>G (p.Ile1059Met)
c.484C>G
c.4134C>G (p.Ile1378Met)
11g.121137656C>TCA477382388TBCEL-TECTA,TECTAc.3177C>T (p.Ile1059=)
c.484C>T
c.4134C>T (p.Ile1378=)
11g.121137657T>ACA383019124TBCEL-TECTA,TECTAc.3178T>A (p.Phe1060Ile)
c.485T>A
c.4135T>A (p.Phe1379Ile)
 dbSNP gnomAD v2 gnomAD v4
11g.121137657T>CCA383019125TBCEL-TECTA,TECTAc.3178T>C (p.Phe1060Leu)
c.485T>C
c.4135T>C (p.Phe1379Leu)
 gnomAD v4
11g.121137657T>GCA383019126TBCEL-TECTA,TECTAc.3178T>G (p.Phe1060Val)
c.485T>G
c.4135T>G (p.Phe1379Val)
11g.121137657T=CA2004733847TBCEL-TECTA,TECTAc.3178T= (p.Phe1060=)
c.485T=
c.4135T= (p.Phe1379=)
11g.121137658T>ACA383019127TBCEL-TECTA,TECTAc.3179T>A (p.Phe1060Tyr)
c.486T>A
c.4136T>A (p.Phe1379Tyr)
11g.121137658T>CCA383019128TBCEL-TECTA,TECTAc.3179T>C (p.Phe1060Ser)
c.486T>C
c.4136T>C (p.Phe1379Ser)
11g.121137658T>GCA383019129TBCEL-TECTA,TECTAc.3179T>G (p.Phe1060Cys)
c.486T>G
c.4136T>G (p.Phe1379Cys)
11g.121137659C>ACA383019130TBCEL-TECTA,TECTAc.3180C>A (p.Phe1060Leu)
c.487C>A
c.4137C>A (p.Phe1379Leu)
11g.121137659C>GCA383019131TBCEL-TECTA,TECTAc.3180C>G (p.Phe1060Leu)
c.487C>G
c.4137C>G (p.Phe1379Leu)
11g.121137659C>TCA477382396TBCEL-TECTA,TECTAc.3180C>T (p.Phe1060=)
c.487C>T
c.4137C>T (p.Phe1379=)
 gnomAD v4
11g.121137660T>ACA383019132TBCEL-TECTA,TECTAc.3181T>A (p.Cys1061Ser)
c.488T>A
c.4138T>A (p.Cys1380Ser)
11g.121137660T>CCA383019133TBCEL-TECTA,TECTAc.3181T>C (p.Cys1061Arg)
c.488T>C
c.4138T>C (p.Cys1380Arg)
11g.121137660T>GCA383019134TBCEL-TECTA,TECTAc.3181T>G (p.Cys1061Gly)
c.488T>G
c.4138T>G (p.Cys1380Gly)
11g.121137661G>ACA383019136TBCEL-TECTA,TECTAc.3182G>A (p.Cys1061Tyr)
c.489G>A
c.4139G>A (p.Cys1380Tyr)
11g.121137661G>CCA383019137TBCEL-TECTA,TECTAc.3182G>C (p.Cys1061Ser)
c.489G>C
c.4139G>C (p.Cys1380Ser)
11g.121137661G>TCA383019135TBCEL-TECTA,TECTAc.3182G>T (p.Cys1061Phe)
c.489G>T
c.4139G>T (p.Cys1380Phe)
11g.121137662C>ACA383019139TBCEL-TECTA,TECTAc.3183C>A (p.Cys1061Ter)
c.490C>A
c.4140C>A (p.Cys1380Ter)
11g.121137662C=CA2004733848TBCEL-TECTA,TECTAc.3183C= (p.Cys1061=)
c.490C=
c.4140C= (p.Cys1380=)
11g.121137662C>GCA383019138TBCEL-TECTA,TECTAc.3183C>G (p.Cys1061Trp)
c.490C>G
c.4140C>G (p.Cys1380Trp)
11g.121137662C>TCA477382399TBCEL-TECTA,TECTAc.3183C>T (p.Cys1061=)
c.490C>T
c.4140C>T (p.Cys1380=)
 dbSNP
11g.121137663T>ACA383019141TBCEL-TECTA,TECTAc.3184T>A (p.Tyr1062Asn)
c.491T>A
c.4141T>A (p.Tyr1381Asn)
11g.121137663T>CCA383019140TBCEL-TECTA,TECTAc.3184T>C (p.Tyr1062His)
c.491T>C
c.4141T>C (p.Tyr1381His)
11g.121137663T>GCA383019142TBCEL-TECTA,TECTAc.3184T>G (p.Tyr1062Asp)
c.491T>G
c.4141T>G (p.Tyr1381Asp)
11g.121137664A=CA2004733849TBCEL-TECTA,TECTAc.3185A= (p.Tyr1062=)
c.492A=
c.4142A= (p.Tyr1381=)
11g.121137664A>CCA383019143TBCEL-TECTA,TECTAc.3185A>C (p.Tyr1062Ser)
c.492A>C
c.4142A>C (p.Tyr1381Ser)
11g.121137664A>GCA383019145TBCEL-TECTA,TECTAc.3185A>G (p.Tyr1062Cys)
c.492A>G
c.4142A>G (p.Tyr1381Cys)
 dbSNP gnomAD v4
11g.121137664A>TCA383019144TBCEL-TECTA,TECTAc.3185A>T (p.Tyr1062Phe)
c.492A>T
c.4142A>T (p.Tyr1381Phe)
11g.121137665T>ACA383019146TBCEL-TECTA,TECTAc.3186T>A (p.Tyr1062Ter)
c.493T>A
c.4143T>A (p.Tyr1381Ter)
11g.121137665T>CCA477382402TBCEL-TECTA,TECTAc.3186T>C (p.Tyr1062=)
c.493T>C
c.4143T>C (p.Tyr1381=)
 dbSNP gnomAD v3 gnomAD v4
11g.121137665T>GCA383019147TBCEL-TECTA,TECTAc.3186T>G (p.Tyr1062Ter)
c.493T>G
c.4143T>G (p.Tyr1381Ter)
11g.121137665T=CA2004733850TBCEL-TECTA,TECTAc.3186T= (p.Tyr1062=)
c.493T=
c.4143T= (p.Tyr1381=)
11g.121137666T>ACA383019148TBCEL-TECTA,TECTAc.3187T>A (p.Cys1063Ser)
c.494T>A
c.4144T>A (p.Cys1382Ser)
11g.121137666T>CCA383019149TBCEL-TECTA,TECTAc.3187T>C (p.Cys1063Arg)
c.494T>C
c.4144T>C (p.Cys1382Arg)
11g.121137666T>GCA383019150TBCEL-TECTA,TECTAc.3187T>G (p.Cys1063Gly)
c.494T>G
c.4144T>G (p.Cys1382Gly)
11g.121137667G>ACA383019151TBCEL-TECTA,TECTAc.3188G>A (p.Cys1063Tyr)
c.495G>A
c.4145G>A (p.Cys1382Tyr)
11g.121137667G>CCA383019152TBCEL-TECTA,TECTAc.3188G>C (p.Cys1063Ser)
c.495G>C
c.4145G>C (p.Cys1382Ser)
11g.121137667G>TCA383019153TBCEL-TECTA,TECTAc.3188G>T (p.Cys1063Phe)
c.495G>T
c.4145G>T (p.Cys1382Phe)
11g.121137668C>ACA383019154TBCEL-TECTA,TECTAc.3189C>A (p.Cys1063Ter)
c.496C>A
c.4146C>A (p.Cys1382Ter)
11g.121137668C>GCA383019155TBCEL-TECTA,TECTAc.3189C>G (p.Cys1063Trp)
c.496C>G
c.4146C>G (p.Cys1382Trp)
11g.121137668C>TCA477382406TBCEL-TECTA,TECTAc.3189C>T (p.Cys1063=)
c.496C>T
c.4146C>T (p.Cys1382=)
 gnomAD v4
11g.121137669A>CCA383019158TBCEL-TECTA,TECTAc.3190A>C (p.Ser1064Arg)
c.497A>C
c.4147A>C (p.Ser1383Arg)
11g.121137669A>GCA383019157TBCEL-TECTA,TECTAc.3190A>G (p.Ser1064Gly)
c.497A>G
c.4147A>G (p.Ser1383Gly)
 gnomAD v4
11g.121137669A>TCA383019156TBCEL-TECTA,TECTAc.3190A>T (p.Ser1064Cys)
c.497A>T
c.4147A>T (p.Ser1383Cys)
11g.121137670G>ACA383019159TBCEL-TECTA,TECTAc.3191G>A (p.Ser1064Asn)
c.498G>A
c.4148G>A (p.Ser1383Asn)
 dbSNP
11g.121137670G>CCA383019160TBCEL-TECTA,TECTAc.3191G>C (p.Ser1064Thr)
c.498G>C
c.4148G>C (p.Ser1383Thr)
11g.121137670G>TCA383019161TBCEL-TECTA,TECTAc.3191G>T (p.Ser1064Ile)
c.498G>T
c.4148G>T (p.Ser1383Ile)
11g.121137671T>ACA383019162TBCEL-TECTA,TECTAc.3192T>A (p.Ser1064Arg)
c.499T>A
c.4149T>A (p.Ser1383Arg)
 gnomAD v4
11g.121137671T>CCA477382411TBCEL-TECTA,TECTAc.3192T>C (p.Ser1064=)
c.499T>C
c.4149T>C (p.Ser1383=)
11g.121137671T>GCA383019163TBCEL-TECTA,TECTAc.3192T>G (p.Ser1064Arg)
c.499T>G
c.4149T>G (p.Ser1383Arg)
11g.121137672G>ACA383019164TBCEL-TECTA,TECTAc.3193G>A (p.Gly1065Ser)
c.500G>A
c.4150G>A (p.Gly1384Ser)
11g.121137672G>CCA383019165TBCEL-TECTA,TECTAc.3193G>C (p.Gly1065Arg)
c.500G>C
c.4150G>C (p.Gly1384Arg)
11g.121137672G>TCA383019166TBCEL-TECTA,TECTAc.3193G>T (p.Gly1065Cys)
c.500G>T
c.4150G>T (p.Gly1384Cys)
11g.121137673G>ACA383019167TBCEL-TECTA,TECTAc.3194G>A (p.Gly1065Asp)
c.501G>A
c.4151G>A (p.Gly1384Asp)
 dbSNP
11g.121137673G>CCA383019168TBCEL-TECTA,TECTAc.3194G>C (p.Gly1065Ala)
c.501G>C
c.4151G>C (p.Gly1384Ala)
11g.121137673G=CA2004733852TBCEL-TECTA,TECTAc.3194G= (p.Gly1065=)
c.501G=
c.4151G= (p.Gly1384=)
11g.121137673G>TCA383019169TBCEL-TECTA,TECTAc.3194G>T (p.Gly1065Val)
c.501G>T
c.4151G>T (p.Gly1384Val)
11g.121137674C>ACA477382416TBCEL-TECTA,TECTAc.3195C>A (p.Gly1065=)
c.502C>A
c.4152C>A (p.Gly1384=)
11g.121137674C=CA2004733853TBCEL-TECTA,TECTAc.3195C= (p.Gly1065=)
c.502C=
c.4152C= (p.Gly1384=)
11g.121137674C>GCA477382417TBCEL-TECTA,TECTAc.3195C>G (p.Gly1065=)
c.502C>G
c.4152C>G (p.Gly1384=)
11g.121137674C>TCA477382418TBCEL-TECTA,TECTAc.3195C>T (p.Gly1065=)
c.502C>T
c.4152C>T (p.Gly1384=)
 dbSNP gnomAD v4
11g.121137675A>CCA383019172TBCEL-TECTA,TECTAc.3196A>C (p.Thr1066Pro)
c.503A>C
c.4153A>C (p.Thr1385Pro)
11g.121137675A>GCA383019171TBCEL-TECTA,TECTAc.3196A>G (p.Thr1066Ala)
c.503A>G
c.4153A>G (p.Thr1385Ala)
11g.121137675A>TCA383019170TBCEL-TECTA,TECTAc.3196A>T (p.Thr1066Ser)
c.503A>T
c.4153A>T (p.Thr1385Ser)
11g.121137676C>ACA383019173TBCEL-TECTA,TECTAc.3197C>A (p.Thr1066Lys)
c.504C>A
c.4154C>A (p.Thr1385Lys)
11g.121137676C=CA2004733855TBCEL-TECTA,TECTAc.3197C= (p.Thr1066=)
c.504C=
c.4154C= (p.Thr1385=)
11g.121137676C>GCA383019174TBCEL-TECTA,TECTAc.3197C>G (p.Thr1066Arg)
c.504C>G
c.4154C>G (p.Thr1385Arg)
11g.121137676C>TCA383019175TBCEL-TECTA,TECTAc.3197C>T (p.Thr1066Ile)
c.504C>T
c.4154C>T (p.Thr1385Ile)
 dbSNP gnomAD v3 gnomAD v4
11g.121137677A>CCA477382422TBCEL-TECTA,TECTAc.3198A>C (p.Thr1066=)
c.505A>C
c.4155A>C (p.Thr1385=)
11g.121137677A>GCA477382423TBCEL-TECTA,TECTAc.3198A>G (p.Thr1066=)
c.505A>G
c.4155A>G (p.Thr1385=)
11g.121137677A>TCA477382424TBCEL-TECTA,TECTAc.3198A>T (p.Thr1066=)
c.505A>T
c.4155A>T (p.Thr1385=)
11g.121137678G>ACA383019176TBCEL-TECTA,TECTAc.3199G>A (p.Asp1067Asn)
c.506G>A
c.4156G>A (p.Asp1386Asn)
11g.121137678G>CCA383019177TBCEL-TECTA,TECTAc.3199G>C (p.Asp1067His)
c.506G>C
c.4156G>C (p.Asp1386His)
11g.121137678G>TCA383019178TBCEL-TECTA,TECTAc.3199G>T (p.Asp1067Tyr)
c.506G>T
c.4156G>T (p.Asp1386Tyr)
11g.121137679A>CCA383019179TBCEL-TECTA,TECTAc.3200A>C (p.Asp1067Ala)
c.507A>C
c.4157A>C (p.Asp1386Ala)
11g.121137679A>GCA383019180TBCEL-TECTA,TECTAc.3200A>G (p.Asp1067Gly)
c.507A>G
c.4157A>G (p.Asp1386Gly)
11g.121137679A>TCA383019181TBCEL-TECTA,TECTAc.3200A>T (p.Asp1067Val)
c.507A>T
c.4157A>T (p.Asp1386Val)
11g.121137680C>ACA383019182TBCEL-TECTA,TECTAc.3201C>A (p.Asp1067Glu)
c.508C>A
c.4158C>A (p.Asp1386Glu)
11g.121137680C>GCA383019183TBCEL-TECTA,TECTAc.3201C>G (p.Asp1067Glu)
c.508C>G
c.4158C>G (p.Asp1386Glu)
11g.121137680C>TCA477382428TBCEL-TECTA,TECTAc.3201C>T (p.Asp1067=)
c.508C>T
c.4158C>T (p.Asp1386=)
11g.121137681A>CCA383019186TBCEL-TECTA,TECTAc.3202A>C (p.Asn1068His)
c.509A>C
c.4159A>C (p.Asn1387His)
11g.121137681A>GCA383019185TBCEL-TECTA,TECTAc.3202A>G (p.Asn1068Asp)
c.509A>G
c.4159A>G (p.Asn1387Asp)
11g.121137681A>TCA383019184TBCEL-TECTA,TECTAc.3202A>T (p.Asn1068Tyr)
c.509A>T
c.4159A>T (p.Asn1387Tyr)
11g.121137682A>CCA383019187TBCEL-TECTA,TECTAc.3203A>C (p.Asn1068Thr)
c.510A>C
c.4160A>C (p.Asn1387Thr)
11g.121137682A>GCA383019188TBCEL-TECTA,TECTAc.3203A>G (p.Asn1068Ser)
c.510A>G
c.4160A>G (p.Asn1387Ser)
11g.121137682A>TCA383019189TBCEL-TECTA,TECTAc.3203A>T (p.Asn1068Ile)
c.510A>T
c.4160A>T (p.Asn1387Ile)
11g.121137683C>ACA383019190TBCEL-TECTA,TECTAc.3204C>A (p.Asn1068Lys)
c.511C>A
c.4161C>A (p.Asn1387Lys)
11g.121137683C=CA2004733856TBCEL-TECTA,TECTAc.3204C= (p.Asn1068=)
c.511C=
c.4161C= (p.Asn1387=)
11g.121137683C>GCA383019191TBCEL-TECTA,TECTAc.3204C>G (p.Asn1068Lys)
c.511C>G
c.4161C>G (p.Asn1387Lys)
11g.121137683C>TCA6327163TBCEL-TECTA,TECTAc.3204C>T (p.Asn1068=)
c.511C>T
c.4161C>T (p.Asn1387=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137684A>CCA477382432TBCEL-TECTA,TECTAc.3205A>C (p.Arg1069=)
c.512A>C
c.4162A>C (p.Arg1388=)
11g.121137684A>GCA383019192TBCEL-TECTA,TECTAc.3205A>G (p.Arg1069Gly)
c.512A>G
c.4162A>G (p.Arg1388Gly)
11g.121137684A>TCA383019193TBCEL-TECTA,TECTAc.3205A>T (p.Arg1069Trp)
c.512A>T
c.4162A>T (p.Arg1388Trp)
11g.121137685G>ACA383019194TBCEL-TECTA,TECTAc.3206G>A (p.Arg1069Lys)
c.513G>A
c.4163G>A (p.Arg1388Lys)
 COSMIC
11g.121137685G>CCA383019195TBCEL-TECTA,TECTAc.3206G>C (p.Arg1069Thr)
c.513G>C
c.4163G>C (p.Arg1388Thr)
 gnomAD v4
11g.121137685G>TCA383019196TBCEL-TECTA,TECTAc.3206G>T (p.Arg1069Met)
c.513G>T
c.4163G>T (p.Arg1388Met)
11g.121137687delCA2616511740TBCEL-TECTA,TECTAc.3208del (p.Val1070SerfsTer?)
c.515del
c.4165del (p.Val1389SerfsTer?)
 gnomAD v4
11g.121137686G>ACA477382435TBCEL-TECTA,TECTAc.3207G>A (p.Arg1069=)
c.514G>A
c.4164G>A (p.Arg1388=)
 gnomAD v4
11g.121137686G>CCA383019197TBCEL-TECTA,TECTAc.3207G>C (p.Arg1069Ser)
c.514G>C
c.4164G>C (p.Arg1388Ser)
11g.121137686G>TCA383019198TBCEL-TECTA,TECTAc.3207G>T (p.Arg1069Ser)
c.514G>T
c.4164G>T (p.Arg1388Ser)
11g.121137687G>ACA383019199TBCEL-TECTA,TECTAc.3208G>A (p.Val1070Ile)
c.515G>A
c.4165G>A (p.Val1389Ile)
11g.121137687G>CCA383019200TBCEL-TECTA,TECTAc.3208G>C (p.Val1070Leu)
c.515G>C
c.4165G>C (p.Val1389Leu)
11g.121137687G=CA2004733858TBCEL-TECTA,TECTAc.3208G= (p.Val1070=)
c.515G=
c.4165G= (p.Val1389=)
11g.121137687G>TCA6327164TBCEL-TECTA,TECTAc.3208G>T (p.Val1070Phe)
c.515G>T
c.4165G>T (p.Val1389Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137688T>ACA383019203TBCEL-TECTA,TECTAc.3209T>A (p.Val1070Asp)
c.516T>A
c.4166T>A (p.Val1389Asp)
11g.121137688T>CCA383019201TBCEL-TECTA,TECTAc.3209T>C (p.Val1070Ala)
c.516T>C
c.4166T>C (p.Val1389Ala)
 COSMIC
11g.121137688T>GCA383019202TBCEL-TECTA,TECTAc.3209T>G (p.Val1070Gly)
c.516T>G
c.4166T>G (p.Val1389Gly)
11g.121137689C>ACA477382441TBCEL-TECTA,TECTAc.3210C>A (p.Val1070=)
c.517C>A
c.4167C>A (p.Val1389=)
11g.121137689C>GCA477382443TBCEL-TECTA,TECTAc.3210C>G (p.Val1070=)
c.517C>G
c.4167C>G (p.Val1389=)
11g.121137689C>TCA477382442TBCEL-TECTA,TECTAc.3210C>T (p.Val1070=)
c.517C>T
c.4167C>T (p.Val1389=)
11g.121137690C>ACA383019204TBCEL-TECTA,TECTAc.3211C>A (p.His1071Asn)
c.518C>A
c.4168C>A (p.His1390Asn)
11g.121137690C=CA2004733860TBCEL-TECTA,TECTAc.3211C= (p.His1071=)
c.518C=
c.4168C= (p.His1390=)
11g.121137690C>GCA383019205TBCEL-TECTA,TECTAc.3211C>G (p.His1071Asp)
c.518C>G
c.4168C>G (p.His1390Asp)
11g.121137690C>TCA383019206TBCEL-TECTA,TECTAc.3211C>T (p.His1071Tyr)
c.518C>T
c.4168C>T (p.His1390Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.121137691A=CA2004733862TBCEL-TECTA,TECTAc.3212A= (p.His1071=)
c.519A=
c.4169A= (p.His1390=)
11g.121137691A>CCA383019207TBCEL-TECTA,TECTAc.3212A>C (p.His1071Pro)
c.519A>C
c.4169A>C (p.His1390Pro)
 dbSNP
11g.121137691A>GCA383019208TBCEL-TECTA,TECTAc.3212A>G (p.His1071Arg)
c.519A>G
c.4169A>G (p.His1390Arg)
11g.121137691A>TCA383019209TBCEL-TECTA,TECTAc.3212A>T (p.His1071Leu)
c.519A>T
c.4169A>T (p.His1390Leu)
 gnomAD v4
11g.121137692C>ACA383019210TBCEL-TECTA,TECTAc.3213C>A (p.His1071Gln)
c.520C>A
c.4170C>A (p.His1390Gln)
11g.121137692C=CA2004733863TBCEL-TECTA,TECTAc.3213C= (p.His1071=)
c.520C=
c.4170C= (p.His1390=)
11g.121137692C>GCA383019211TBCEL-TECTA,TECTAc.3213C>G (p.His1071Gln)
c.520C>G
c.4170C>G (p.His1390Gln)
11g.121137692C>TCA477382444TBCEL-TECTA,TECTAc.3213C>T (p.His1071=)
c.520C>T
c.4170C>T (p.His1390=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.121137693T>ACA383019212TBCEL-TECTA,TECTAc.3214T>A (p.Cys1072Ser)
c.521T>A
c.4171T>A (p.Cys1391Ser)
11g.121137693T>CCA383019213TBCEL-TECTA,TECTAc.3214T>C (p.Cys1072Arg)
c.521T>C
c.4171T>C (p.Cys1391Arg)
11g.121137693T>GCA383019214TBCEL-TECTA,TECTAc.3214T>G (p.Cys1072Gly)
c.521T>G
c.4171T>G (p.Cys1391Gly)
 gnomAD v4
11g.121137694G>ACA383019217TBCEL-TECTA,TECTAc.3215G>A (p.Cys1072Tyr)
c.522G>A
c.4172G>A (p.Cys1391Tyr)
11g.121137694G>CCA383019215TBCEL-TECTA,TECTAc.3215G>C (p.Cys1072Ser)
c.522G>C
c.4172G>C (p.Cys1391Ser)
11g.121137694G>TCA383019216TBCEL-TECTA,TECTAc.3215G>T (p.Cys1072Phe)
c.522G>T
c.4172G>T (p.Cys1391Phe)
11g.121137695C>ACA383019218TBCEL-TECTA,TECTAc.3216C>A (p.Cys1072Ter)
c.523C>A
c.4173C>A (p.Cys1391Ter)
 gnomAD v4
11g.121137695C=CA2004733865TBCEL-TECTA,TECTAc.3216C= (p.Cys1072=)
c.523C=
c.4173C= (p.Cys1391=)
11g.121137695C>GCA6327165TBCEL-TECTA,TECTAc.3216C>G (p.Cys1072Trp)
c.523C>G
c.4173C>G (p.Cys1391Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.121137695C>TCA6327166TBCEL-TECTA,TECTAc.3216C>T (p.Cys1072=)
c.523C>T
c.4173C>T (p.Cys1391=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.121137696G>ACA6327167TBCEL-TECTA,TECTAc.3217G>A (p.Glu1073Lys)
c.524G>A
c.4174G>A (p.Glu1392Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137696G>CCA383019219TBCEL-TECTA,TECTAc.3217G>C (p.Glu1073Gln)
c.524G>C
c.4174G>C (p.Glu1392Gln)
11g.121137696G=CA2004733868TBCEL-TECTA,TECTAc.3217G= (p.Glu1073=)
c.524G=
c.4174G= (p.Glu1392=)
11g.121137696G>TCA383019220TBCEL-TECTA,TECTAc.3217G>T (p.Glu1073Ter)
c.524G>T
c.4174G>T (p.Glu1392Ter)
11g.121137697A>CCA383019221TBCEL-TECTA,TECTAc.3218A>C (p.Glu1073Ala)
c.525A>C
c.4175A>C (p.Glu1392Ala)
11g.121137697A>GCA383019222TBCEL-TECTA,TECTAc.3218A>G (p.Glu1073Gly)
c.525A>G
c.4175A>G (p.Glu1392Gly)
11g.121137697A>TCA383019223TBCEL-TECTA,TECTAc.3218A>T (p.Glu1073Val)
c.525A>T
c.4175A>T (p.Glu1392Val)
11g.121137698G>ACA477382450TBCEL-TECTA,TECTAc.3219G>A (p.Glu1073=)
c.526G>A
c.4176G>A (p.Glu1392=)
11g.121137698G>CCA383019224TBCEL-TECTA,TECTAc.3219G>C (p.Glu1073Asp)
c.526G>C
c.4176G>C (p.Glu1392Asp)
11g.121137698G=CA2004733870TBCEL-TECTA,TECTAc.3219G= (p.Glu1073=)
c.526G=
c.4176G= (p.Glu1392=)
11g.121137698G>TCA383019225TBCEL-TECTA,TECTAc.3219G>T (p.Glu1073Asp)
c.526G>T
c.4176G>T (p.Glu1392Asp)
 dbSNP gnomAD v2 gnomAD v4
11g.121137699A>CCA383019228TBCEL-TECTA,TECTAc.3220A>C (p.Thr1074Pro)
c.527A>C
c.4177A>C (p.Thr1393Pro)
11g.121137699A>GCA383019227TBCEL-TECTA,TECTAc.3220A>G (p.Thr1074Ala)
c.527A>G
c.4177A>G (p.Thr1393Ala)
11g.121137699A>TCA383019226TBCEL-TECTA,TECTAc.3220A>T (p.Thr1074Ser)
c.527A>T
c.4177A>T (p.Thr1393Ser)
11g.121137700C>ACA383019229TBCEL-TECTA,TECTAc.3221C>A (p.Thr1074Asn)
c.528C>A
c.4178C>A (p.Thr1393Asn)
11g.121137700C=CA2004733871TBCEL-TECTA,TECTAc.3221C= (p.Thr1074=)
c.528C=
c.4178C= (p.Thr1393=)
11g.121137700C>GCA383019230TBCEL-TECTA,TECTAc.3221C>G (p.Thr1074Ser)
c.528C>G
c.4178C>G (p.Thr1393Ser)
 ClinVar gnomAD v4
11g.121137700C>TCA383019231TBCEL-TECTA,TECTAc.3221C>T (p.Thr1074Ile)
c.528C>T
c.4178C>T (p.Thr1393Ile)
 dbSNP gnomAD v4
11g.121137701C>ACA477382452TBCEL-TECTA,TECTAc.3222C>A (p.Thr1074=)
c.529C>A
c.4179C>A (p.Thr1393=)
 gnomAD v4
11g.121137701C=CA2004733872TBCEL-TECTA,TECTAc.3222C= (p.Thr1074=)
c.529C=
c.4179C= (p.Thr1393=)
11g.121137701C>GCA6327168TBCEL-TECTA,TECTAc.3222C>G (p.Thr1074=)
c.529C>G
c.4179C>G (p.Thr1393=)
 dbSNP ExAC gnomAD v3 gnomAD v4
11g.121137701C>TCA477382454TBCEL-TECTA,TECTAc.3222C>T (p.Thr1074=)
c.529C>T
c.4179C>T (p.Thr1393=)
11g.121137702A>CCA383019232TBCEL-TECTA,TECTAc.3223A>C (p.Ile1075Leu)
c.530A>C
c.4180A>C (p.Ile1394Leu)
11g.121137702A>GCA383019233TBCEL-TECTA,TECTAc.3223A>G (p.Ile1075Val)
c.530A>G
c.4180A>G (p.Ile1394Val)
11g.121137702A>TCA383019234TBCEL-TECTA,TECTAc.3223A>T (p.Ile1075Phe)
c.530A>T
c.4180A>T (p.Ile1394Phe)
11g.121137703T>ACA383019235TBCEL-TECTA,TECTAc.3224T>A (p.Ile1075Asn)
c.531T>A
c.4181T>A (p.Ile1394Asn)
11g.121137703T>CCA6327169TBCEL-TECTA,TECTAc.3224T>C (p.Ile1075Thr)
c.531T>C
c.4181T>C (p.Ile1394Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.121137703T>GCA383019236TBCEL-TECTA,TECTAc.3224T>G (p.Ile1075Ser)
c.531T>G
c.4181T>G (p.Ile1394Ser)
11g.121137703T=CA2004733873TBCEL-TECTA,TECTAc.3224T= (p.Ile1075=)
c.531T=
c.4181T= (p.Ile1394=)
11g.121137704T>ACA477382457TBCEL-TECTA,TECTAc.3225T>A (p.Ile1075=)
c.532T>A
c.4182T>A (p.Ile1394=)
11g.121137704T>CCA477382458TBCEL-TECTA,TECTAc.3225T>C (p.Ile1075=)
c.532T>C
c.4182T>C (p.Ile1394=)
11g.121137704T>GCA383019237TBCEL-TECTA,TECTAc.3225T>G (p.Ile1075Met)
c.532T>G
c.4182T>G (p.Ile1394Met)
11g.121137704T=CA2004733875TBCEL-TECTA,TECTAc.3225T= (p.Ile1075=)
c.532T=
c.4182T= (p.Ile1394=)
11g.121137705C>ACA383019240TBCEL-TECTA,TECTAc.3226C>A (p.Pro1076Thr)
c.533C>A
c.4183C>A (p.Pro1395Thr)
 dbSNP gnomAD v3 gnomAD v4
11g.121137705C=CA2004733877TBCEL-TECTA,TECTAc.3226C= (p.Pro1076=)
c.533C=
c.4183C= (p.Pro1395=)
11g.121137705C>GCA383019239TBCEL-TECTA,TECTAc.3226C>G (p.Pro1076Ala)
c.533C>G
c.4183C>G (p.Pro1395Ala)
11g.121137705C>TCA383019238TBCEL-TECTA,TECTAc.3226C>T (p.Pro1076Ser)
c.533C>T
c.4183C>T (p.Pro1395Ser)
 gnomAD v4
11g.121137707dupCA229825577TBCEL-TECTA,TECTAc.3228dup (p.Cys1077LeufsTer4)
c.535dup
c.4185dup (p.Cys1396LeufsTer4)
 dbSNP
11g.121137706C>ACA383019241TBCEL-TECTA,TECTAc.3227C>A (p.Pro1076His)
c.534C>A
c.4184C>A (p.Pro1395His)
11g.121137706C>GCA383019242TBCEL-TECTA,TECTAc.3227C>G (p.Pro1076Arg)
c.534C>G
c.4184C>G (p.Pro1395Arg)
11g.121137706C>TCA383019243TBCEL-TECTA,TECTAc.3227C>T (p.Pro1076Leu)
c.534C>T
c.4184C>T (p.Pro1395Leu)
 gnomAD v4
11g.121137707C>ACA477382464TBCEL-TECTA,TECTAc.3228C>A (p.Pro1076=)
c.535C>A
c.4185C>A (p.Pro1395=)
11g.121137707C=CA2004733879TBCEL-TECTA,TECTAc.3228C= (p.Pro1076=)
c.535C=
c.4185C= (p.Pro1395=)
11g.121137707C>GCA477382465TBCEL-TECTA,TECTAc.3228C>G (p.Pro1076=)
c.535C>G
c.4185C>G (p.Pro1395=)
 gnomAD v4
11g.121137707C>TCA477382466TBCEL-TECTA,TECTAc.3228C>T (p.Pro1076=)
c.535C>T
c.4185C>T (p.Pro1395=)
 dbSNP COSMIC

Number of alleles fetched