Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18787511_18787513dupCA632375736COMPc.1120_1122dup (p.Asp374_Ile375insAsp)
c.961_963dup (p.Asp321_Ile322insAsp)
c.1021_1023dup (p.Asp341_Ile342insAsp)
 dbSNP gnomAD v2 gnomAD v4
19g.18787511_18787513delCA2580613096COMPc.1120_1122del (p.Asp374del)
c.961_963del (p.Asp321del)
c.1021_1023del (p.Asp341del)
 ClinVar dbSNP
19g.18787508_18787513delCA2695228440COMPc.1117_1122del (p.Asp373_Asp374del)
c.958_963del (p.Asp320_Asp321del)
c.1018_1023del (p.Asp340_Asp341del)
19g.18787508T>ACA404887788COMPc.1118A>T (p.Asp373Val)
c.959A>T (p.Asp320Val)
c.1019A>T (p.Asp340Val)
19g.18787508T>CCA9316538COMPc.1118A>G (p.Asp373Gly)
c.959A>G (p.Asp320Gly)
c.1019A>G (p.Asp340Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787508T>GCA404887785COMPc.1118A>C (p.Asp373Ala)
c.959A>C (p.Asp320Ala)
c.1019A>C (p.Asp340Ala)
19g.18787508T=CA2326526458COMPc.1118A= (p.Asp373=)
c.959A= (p.Asp320=)
c.1019A= (p.Asp340=)
19g.18787509C>ACA404887795COMPc.1117G>T (p.Asp373Tyr)
c.958G>T (p.Asp320Tyr)
c.1018G>T (p.Asp340Tyr)
19g.18787509C=CA2326526459COMPc.1117G= (p.Asp373=)
c.958G= (p.Asp320=)
c.1018G= (p.Asp340=)
19g.18787509C>GCA404887801COMPc.1117G>C (p.Asp373His)
c.958G>C (p.Asp320His)
c.1018G>C (p.Asp340His)
19g.18787509C>TCA9316539COMPc.1117G>A (p.Asp373Asn)
c.958G>A (p.Asp320Asn)
c.1018G>A (p.Asp340Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18787510G>ACA506053057COMPc.1116C>T (p.Asp372=)
c.957C>T (p.Asp319=)
c.1017C>T (p.Asp339=)
19g.18787510G>CCA404887805COMPc.1116C>G (p.Asp372Glu)
c.957C>G (p.Asp319Glu)
c.1017C>G (p.Asp339Glu)
19g.18787510G>TCA404887806COMPc.1116C>A (p.Asp372Glu)
c.957C>A (p.Asp319Glu)
c.1017C>A (p.Asp339Glu)
19g.18787511T>ACA404887808COMPc.1115A>T (p.Asp372Val)
c.956A>T (p.Asp319Val)
c.1016A>T (p.Asp339Val)
19g.18787511T>CCA404887811COMPc.1115A>G (p.Asp372Gly)
c.956A>G (p.Asp319Gly)
c.1016A>G (p.Asp339Gly)
19g.18787511T>GCA404887813COMPc.1115A>C (p.Asp372Ala)
c.956A>C (p.Asp319Ala)
c.1016A>C (p.Asp339Ala)
19g.18787512C>ACA404887817COMPc.1114G>T (p.Asp372Tyr)
c.955G>T (p.Asp319Tyr)
c.1015G>T (p.Asp339Tyr)
19g.18787512C>GCA404887819COMPc.1114G>C (p.Asp372His)
c.955G>C (p.Asp319His)
c.1015G>C (p.Asp339His)
19g.18787512C>TCA404887822COMPc.1114G>A (p.Asp372Asn)
c.955G>A (p.Asp319Asn)
c.1015G>A (p.Asp339Asn)
19g.18787513G>ACA506053058COMPc.1113C>T (p.Cys371=)
c.954C>T (p.Cys318=)
c.1014C>T (p.Cys338=)
19g.18787513G>CCA404887831COMPc.1113C>G (p.Cys371Trp)
c.954C>G (p.Cys318Trp)
c.1014C>G (p.Cys338Trp)
 ClinVar dbSNP
19g.18787513G>TCA404887833COMPc.1113C>A (p.Cys371Ter)
c.954C>A (p.Cys318Ter)
c.1014C>A (p.Cys338Ter)
 gnomAD v4
19g.18787514C>ACA404887842COMPc.1112G>T (p.Cys371Phe)
c.953G>T (p.Cys318Phe)
c.1013G>T (p.Cys338Phe)
19g.18787514C=CA2326526460COMPc.1112G= (p.Cys371=)
c.953G= (p.Cys318=)
c.1013G= (p.Cys338=)
19g.18787514C>GCA404887840COMPc.1112G>C (p.Cys371Ser)
c.953G>C (p.Cys318Ser)
c.1013G>C (p.Cys338Ser)
19g.18787514C>TCA16607768COMPc.1112G>A (p.Cys371Tyr)
c.953G>A (p.Cys318Tyr)
c.1013G>A (p.Cys338Tyr)
 ClinVar dbSNP
19g.18787515A>CCA404887846COMPc.1111T>G (p.Cys371Gly)
c.952T>G (p.Cys318Gly)
c.1012T>G (p.Cys338Gly)
19g.18787515A>GCA404887847COMPc.1111T>C (p.Cys371Arg)
c.952T>C (p.Cys318Arg)
c.1012T>C (p.Cys338Arg)
 ClinVar dbSNP
19g.18787515A>TCA404887848COMPc.1111T>A (p.Cys371Ser)
c.952T>A (p.Cys318Ser)
c.1012T>A (p.Cys338Ser)
 gnomAD v4
19g.18787516C>ACA506053059COMPc.1110G>T (p.Ala370=)
c.951G>T (p.Ala317=)
c.1011G>T (p.Ala337=)
19g.18787516C=CA2326526461COMPc.1110G= (p.Ala370=)
c.951G= (p.Ala317=)
c.1011G= (p.Ala337=)
19g.18787516C>GCA9316541COMPc.1110G>C (p.Ala370=)
c.951G>C (p.Ala317=)
c.1011G>C (p.Ala337=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
19g.18787516C>TCA9316540COMPc.1110G>A (p.Ala370=)
c.951G>A (p.Ala317=)
c.1011G>A (p.Ala337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787517G>ACA9316542COMPc.1109C>T (p.Ala370Val)
c.950C>T (p.Ala317Val)
c.1010C>T (p.Ala337Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787517G>CCA404887858COMPc.1109C>G (p.Ala370Gly)
c.950C>G (p.Ala317Gly)
c.1010C>G (p.Ala337Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18787517G=CA2326526462COMPc.1109C= (p.Ala370=)
c.950C= (p.Ala317=)
c.1010C= (p.Ala337=)
19g.18787517G>TCA404887860COMPc.1109C>A (p.Ala370Glu)
c.950C>A (p.Ala317Glu)
c.1010C>A (p.Ala337Glu)
 dbSNP gnomAD v4
19g.18787518C>ACA404887866COMPc.1108G>T (p.Ala370Ser)
c.949G>T (p.Ala317Ser)
c.1009G>T (p.Ala337Ser)
19g.18787518C>GCA404887869COMPc.1108G>C (p.Ala370Pro)
c.949G>C (p.Ala317Pro)
c.1009G>C (p.Ala337Pro)
19g.18787518C>TCA404887878COMPc.1108G>A (p.Ala370Thr)
c.949G>A (p.Ala317Thr)
c.1009G>A (p.Ala337Thr)
19g.18787519A>CCA404887882COMPc.1107T>G (p.Asp369Glu)
c.948T>G (p.Asp316Glu)
c.1008T>G (p.Asp336Glu)
19g.18787519A>GCA506053060COMPc.1107T>C (p.Asp369=)
c.948T>C (p.Asp316=)
c.1008T>C (p.Asp336=)
19g.18787519A>TCA404887883COMPc.1107T>A (p.Asp369Glu)
c.948T>A (p.Asp316Glu)
c.1008T>A (p.Asp336Glu)
19g.18787520T>ACA404887890COMPc.1106A>T (p.Asp369Val)
c.947A>T (p.Asp316Val)
c.1007A>T (p.Asp336Val)
19g.18787520T>CCA404887896COMPc.1106A>G (p.Asp369Gly)
c.947A>G (p.Asp316Gly)
c.1007A>G (p.Asp336Gly)
19g.18787520T>GCA404887892COMPc.1106A>C (p.Asp369Ala)
c.947A>C (p.Asp316Ala)
c.1007A>C (p.Asp336Ala)
19g.18787521C>ACA404887909COMPc.1105G>T (p.Asp369Tyr)
c.946G>T (p.Asp316Tyr)
c.1006G>T (p.Asp336Tyr)
19g.18787521C=CA2326526463COMPc.1105G= (p.Asp369=)
c.946G= (p.Asp316=)
c.1006G= (p.Asp336=)
19g.18787521C>GCA404887914COMPc.1105G>C (p.Asp369His)
c.946G>C (p.Asp316His)
c.1006G>C (p.Asp336His)
 dbSNP
19g.18787521C>TCA404887911COMPc.1105G>A (p.Asp369Asn)
c.946G>A (p.Asp316Asn)
c.1006G>A (p.Asp336Asn)
 dbSNP gnomAD v2 gnomAD v4
19g.18787522G>ACA506053061COMPc.1104C>T (p.Gly368=)
c.945C>T (p.Gly315=)
c.1005C>T (p.Gly335=)
 ClinVar dbSNP COSMIC
19g.18787522G>CCA506053063COMPc.1104C>G (p.Gly368=)
c.945C>G (p.Gly315=)
c.1005C>G (p.Gly335=)
19g.18787522G=CA2326526464COMPc.1104C= (p.Gly368=)
c.945C= (p.Gly315=)
c.1005C= (p.Gly335=)
19g.18787522G>TCA506053062COMPc.1104C>A (p.Gly368=)
c.945C>A (p.Gly315=)
c.1005C>A (p.Gly335=)
 ClinVar gnomAD v4
19g.18787525_18787530delCA2573156202COMPc.1099_1104del (p.Arg367_Gly368del)
c.940_945del (p.Arg314_Gly315del)
c.1000_1005del (p.Arg334_Gly335del)
 ClinVar dbSNP
19g.18787523C>ACA404887918COMPc.1103G>T (p.Gly368Val)
c.944G>T (p.Gly315Val)
c.1004G>T (p.Gly335Val)
19g.18787523C>GCA404887927COMPc.1103G>C (p.Gly368Ala)
c.944G>C (p.Gly315Ala)
c.1004G>C (p.Gly335Ala)
19g.18787523C>TCA404887930COMPc.1103G>A (p.Gly368Asp)
c.944G>A (p.Gly315Asp)
c.1004G>A (p.Gly335Asp)
 gnomAD v4
19g.18787524C>ACA404887933COMPc.1102G>T (p.Gly368Cys)
c.943G>T (p.Gly315Cys)
c.1003G>T (p.Gly335Cys)
19g.18787524C=CA2326526465COMPc.1102G= (p.Gly368=)
c.943G= (p.Gly315=)
c.1003G= (p.Gly335=)
19g.18787524C>GCA404887936COMPc.1102G>C (p.Gly368Arg)
c.943G>C (p.Gly315Arg)
c.1003G>C (p.Gly335Arg)
19g.18787524C>TCA9316543COMPc.1102G>A (p.Gly368Ser)
c.943G>A (p.Gly315Ser)
c.1003G>A (p.Gly335Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787525C>ACA506053064COMPc.1101G>T (p.Arg367=)
c.942G>T (p.Arg314=)
c.1002G>T (p.Arg334=)
19g.18787525C>GCA506053065COMPc.1101G>C (p.Arg367=)
c.942G>C (p.Arg314=)
c.1002G>C (p.Arg334=)
19g.18787525C>TCA506053066COMPc.1101G>A (p.Arg367=)
c.942G>A (p.Arg314=)
c.1002G>A (p.Arg334=)
19g.18787526C>ACA404887948COMPc.1100G>T (p.Arg367Leu)
c.941G>T (p.Arg314Leu)
c.1001G>T (p.Arg334Leu)
 gnomAD v4
19g.18787526C=CA2326526466COMPc.1100G= (p.Arg367=)
c.941G= (p.Arg314=)
c.1001G= (p.Arg334=)
19g.18787526C>GCA404887945COMPc.1100G>C (p.Arg367Pro)
c.941G>C (p.Arg314Pro)
c.1001G>C (p.Arg334Pro)
 gnomAD v4
19g.18787526C>TCA9316544COMPc.1100G>A (p.Arg367Gln)
c.941G>A (p.Arg314Gln)
c.1001G>A (p.Arg334Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787527G>ACA9316545COMPc.1099C>T (p.Arg367Trp)
c.940C>T (p.Arg314Trp)
c.1000C>T (p.Arg334Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787527G>CCA404887953COMPc.1099C>G (p.Arg367Gly)
c.940C>G (p.Arg314Gly)
c.1000C>G (p.Arg334Gly)
19g.18787527G=CA2326526467COMPc.1099C= (p.Arg367=)
c.940C= (p.Arg314=)
c.1000C= (p.Arg334=)
19g.18787527G>TCA506053067COMPc.1099C>A (p.Arg367=)
c.940C>A (p.Arg314=)
c.1000C>A (p.Arg334=)
19g.18787528G>ACA9316546COMPc.1098C>T (p.Gly366=)
c.939C>T (p.Gly313=)
c.999C>T (p.Gly333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787528G>CCA506053068COMPc.1098C>G (p.Gly366=)
c.939C>G (p.Gly313=)
c.999C>G (p.Gly333=)
19g.18787528G=CA2326526468COMPc.1098C= (p.Gly366=)
c.939C= (p.Gly313=)
c.999C= (p.Gly333=)
19g.18787528G>TCA506053069COMPc.1098C>A (p.Gly366=)
c.939C>A (p.Gly313=)
c.999C>A (p.Gly333=)
19g.18787529C>ACA404887967COMPc.1097G>T (p.Gly366Val)
c.938G>T (p.Gly313Val)
c.998G>T (p.Gly333Val)
19g.18787529C>GCA404887970COMPc.1097G>C (p.Gly366Ala)
c.938G>C (p.Gly313Ala)
c.998G>C (p.Gly333Ala)
19g.18787529C>TCA404887972COMPc.1097G>A (p.Gly366Asp)
c.938G>A (p.Gly313Asp)
c.998G>A (p.Gly333Asp)
 ClinVar gnomAD v4
19g.18787529_18787530insACGCATCA2573156203COMPc.1096_1097insATGCGT (p.Gly366delinsAspAlaCys)
c.937_938insATGCGT (p.Gly313delinsAspAlaCys)
c.997_998insATGCGT (p.Gly333delinsAspAlaCys)
 ClinVar dbSNP
19g.18787530C>ACA404887979COMPc.1096G>T (p.Gly366Cys)
c.937G>T (p.Gly313Cys)
c.997G>T (p.Gly333Cys)
19g.18787530C=CA2326526469COMPc.1096G= (p.Gly366=)
c.937G= (p.Gly313=)
c.997G= (p.Gly333=)
19g.18787530C>GCA404887976COMPc.1096G>C (p.Gly366Arg)
c.937G>C (p.Gly313Arg)
c.997G>C (p.Gly333Arg)
 dbSNP gnomAD v4
19g.18787530C>TCA404887978COMPc.1096G>A (p.Gly366Ser)
c.937G>A (p.Gly313Ser)
c.997G>A (p.Gly333Ser)
19g.18787531G>ACA506053070COMPc.1095C>T (p.Asp365=)
c.936C>T (p.Asp312=)
c.996C>T (p.Asp332=)
 dbSNP gnomAD v4
19g.18787531G>CCA404887984COMPc.1095C>G (p.Asp365Glu)
c.936C>G (p.Asp312Glu)
c.996C>G (p.Asp332Glu)
19g.18787531G=CA2326526470COMPc.1095C= (p.Asp365=)
c.936C= (p.Asp312=)
c.996C= (p.Asp332=)
19g.18787531G>TCA404887986COMPc.1095C>A (p.Asp365Glu)
c.936C>A (p.Asp312Glu)
c.996C>A (p.Asp332Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18787532T>ACA404887987COMPc.1094A>T (p.Asp365Val)
c.935A>T (p.Asp312Val)
c.995A>T (p.Asp332Val)
19g.18787532T>CCA404887988COMPc.1094A>G (p.Asp365Gly)
c.935A>G (p.Asp312Gly)
c.995A>G (p.Asp332Gly)
 gnomAD v4
19g.18787532T>GCA404887990COMPc.1094A>C (p.Asp365Ala)
c.935A>C (p.Asp312Ala)
c.995A>C (p.Asp332Ala)
19g.18787533C>ACA404887995COMPc.1093G>T (p.Asp365Tyr)
c.934G>T (p.Asp312Tyr)
c.994G>T (p.Asp332Tyr)
19g.18787533C=CA2326526471COMPc.1093G= (p.Asp365=)
c.934G= (p.Asp312=)
c.994G= (p.Asp332=)
19g.18787533C>GCA404887998COMPc.1093G>C (p.Asp365His)
c.934G>C (p.Asp312His)
c.994G>C (p.Asp332His)
19g.18787533C>TCA306256559COMPc.1093G>A (p.Asp365Asn)
c.934G>A (p.Asp312Asn)
c.994G>A (p.Asp332Asn)
 dbSNP gnomAD v4
19g.18787534C>ACA404888004COMPc.1092G>T (p.Gln364His)
c.933G>T (p.Gln311His)
c.993G>T (p.Gln331His)
19g.18787534C=CA2326526472COMPc.1092G= (p.Gln364=)
c.933G= (p.Gln311=)
c.993G= (p.Gln331=)
19g.18787534C>GCA404888007COMPc.1092G>C (p.Gln364His)
c.933G>C (p.Gln311His)
c.993G>C (p.Gln331His)
19g.18787534C>TCA506053071COMPc.1092G>A (p.Gln364=)
c.933G>A (p.Gln311=)
c.993G>A (p.Gln331=)
 dbSNP gnomAD v2 gnomAD v4
19g.18787535T>ACA404888010COMPc.1091A>T (p.Gln364Leu)
c.932A>T (p.Gln311Leu)
c.992A>T (p.Gln331Leu)
19g.18787535T>CCA404888011COMPc.1091A>G (p.Gln364Arg)
c.932A>G (p.Gln311Arg)
c.992A>G (p.Gln331Arg)
19g.18787535T>GCA404888012COMPc.1091A>C (p.Gln364Pro)
c.932A>C (p.Gln311Pro)
c.992A>C (p.Gln331Pro)
19g.18787536G>ACA404888014COMPc.1090C>T (p.Gln364Ter)
c.931C>T (p.Gln311Ter)
c.991C>T (p.Gln331Ter)
 gnomAD v4
19g.18787536G>CCA404888018COMPc.1090C>G (p.Gln364Glu)
c.931C>G (p.Gln311Glu)
c.991C>G (p.Gln331Glu)
19g.18787536G>TCA404888016COMPc.1090C>A (p.Gln364Lys)
c.931C>A (p.Gln311Lys)
c.991C>A (p.Gln331Lys)
19g.18787537G>ACA506053072COMPc.1089C>T (p.Asp363=)
c.930C>T (p.Asp310=)
c.990C>T (p.Asp330=)
19g.18787537G>CCA404888024COMPc.1089C>G (p.Asp363Glu)
c.930C>G (p.Asp310Glu)
c.990C>G (p.Asp330Glu)
19g.18787537G>TCA404888027COMPc.1089C>A (p.Asp363Glu)
c.930C>A (p.Asp310Glu)
c.990C>A (p.Asp330Glu)
19g.18787538T>ACA404888029COMPc.1088A>T (p.Asp363Val)
c.929A>T (p.Asp310Val)
c.989A>T (p.Asp330Val)
19g.18787538T>CCA404888032COMPc.1088A>G (p.Asp363Gly)
c.929A>G (p.Asp310Gly)
c.989A>G (p.Asp330Gly)
19g.18787538T>GCA404888034COMPc.1088A>C (p.Asp363Ala)
c.929A>C (p.Asp310Ala)
c.989A>C (p.Asp330Ala)
19g.18787539C>ACA404888038COMPc.1087G>T (p.Asp363Tyr)
c.928G>T (p.Asp310Tyr)
c.988G>T (p.Asp330Tyr)
19g.18787539C>GCA404888039COMPc.1087G>C (p.Asp363His)
c.928G>C (p.Asp310His)
c.988G>C (p.Asp330His)
19g.18787539C>TCA404888042COMPc.1087G>A (p.Asp363Asn)
c.928G>A (p.Asp310Asn)
c.988G>A (p.Asp330Asn)
 COSMIC
19g.18787539_18787541delinsCTGCA2326526473COMPc.1085_1087delinsCAG (p.Thr362=)
c.926_928delinsCAG (p.Thr309=)
c.986_988delinsCAG (p.Thr329=)
19g.18787540T>ACA506053073COMPc.1086A>T (p.Thr362=)
c.927A>T (p.Thr309=)
c.987A>T (p.Thr329=)
19g.18787540T>CCA506053074COMPc.1086A>G (p.Thr362=)
c.927A>G (p.Thr309=)
c.987A>G (p.Thr329=)
 dbSNP
19g.18787540T>GCA506053075COMPc.1086A>C (p.Thr362=)
c.927A>C (p.Thr309=)
c.987A>C (p.Thr329=)
19g.18787540T=CA2326526007COMPc.1086A= (p.Thr362=)
c.927A= (p.Thr309=)
c.987A= (p.Thr329=)
19g.18787543_18787544delCA783973147COMPc.1085_1086del (p.Thr362ArgfsTer27)
c.926_927del (p.Thr309ArgfsTer27)
c.986_987del (p.Thr329ArgfsTer27)
 dbSNP gnomAD v3 gnomAD v4
19g.18787541G>ACA404888043COMPc.1085C>T (p.Thr362Ile)
c.926C>T (p.Thr309Ile)
c.986C>T (p.Thr329Ile)
19g.18787541G>CCA404888044COMPc.1085C>G (p.Thr362Arg)
c.926C>G (p.Thr309Arg)
c.986C>G (p.Thr329Arg)
19g.18787541G>TCA404888046COMPc.1085C>A (p.Thr362Lys)
c.926C>A (p.Thr309Lys)
c.986C>A (p.Thr329Lys)
19g.18787542T>ACA404888048COMPc.1084A>T (p.Thr362Ser)
c.925A>T (p.Thr309Ser)
c.985A>T (p.Thr329Ser)
19g.18787542T>CCA404888049COMPc.1084A>G (p.Thr362Ala)
c.925A>G (p.Thr309Ala)
c.985A>G (p.Thr329Ala)
 dbSNP
19g.18787542T>GCA404888052COMPc.1084A>C (p.Thr362Pro)
c.925A>C (p.Thr309Pro)
c.985A>C (p.Thr329Pro)
19g.18787542T=CA2326526009COMPc.1084A= (p.Thr362=)
c.925A= (p.Thr309=)
c.985A= (p.Thr329=)
19g.18787543G>ACA506053076COMPc.1083C>T (p.Asp361=)
c.924C>T (p.Asp308=)
c.984C>T (p.Asp328=)
 dbSNP
19g.18787543G>CCA404888054COMPc.1083C>G (p.Asp361Glu)
c.924C>G (p.Asp308Glu)
c.984C>G (p.Asp328Glu)
 gnomAD v4
19g.18787543G=CA2326526010COMPc.1083C= (p.Asp361=)
c.924C= (p.Asp308=)
c.984C= (p.Asp328=)
19g.18787543G>TCA404888056COMPc.1083C>A (p.Asp361Glu)
c.924C>A (p.Asp308Glu)
c.984C>A (p.Asp328Glu)
19g.18787544T>ACA404888058COMPc.1082A>T (p.Asp361Val)
c.923A>T (p.Asp308Val)
c.983A>T (p.Asp328Val)
19g.18787544T>CCA404888060COMPc.1082A>G (p.Asp361Gly)
c.923A>G (p.Asp308Gly)
c.983A>G (p.Asp328Gly)
19g.18787544T>GCA404888061COMPc.1082A>C (p.Asp361Ala)
c.923A>C (p.Asp308Ala)
c.983A>C (p.Asp328Ala)
19g.18787545C>ACA404888064COMPc.1081G>T (p.Asp361Tyr)
c.922G>T (p.Asp308Tyr)
c.982G>T (p.Asp328Tyr)
 gnomAD v4
19g.18787545C>GCA404888066COMPc.1081G>C (p.Asp361His)
c.922G>C (p.Asp308His)
c.982G>C (p.Asp328His)
19g.18787545C>TCA404888081COMPc.1081G>A (p.Asp361Asn)
c.922G>A (p.Asp308Asn)
c.982G>A (p.Asp328Asn)
 COSMIC
19g.18787546delCA2583622630COMPc.1081del (p.Asp361ThrfsTer?)
c.922del (p.Asp308ThrfsTer?)
c.982del (p.Asp328ThrfsTer?)
 gnomAD v4
19g.18787546C>ACA404888082COMPc.1080G>T (p.Lys360Asn)
c.921G>T (p.Lys307Asn)
c.981G>T (p.Lys327Asn)
19g.18787546C=CA2326526011COMPc.1080G= (p.Lys360=)
c.921G= (p.Lys307=)
c.981G= (p.Lys327=)
19g.18787546C>GCA404888084COMPc.1080G>C (p.Lys360Asn)
c.921G>C (p.Lys307Asn)
c.981G>C (p.Lys327Asn)
 dbSNP
19g.18787546C>TCA506053077COMPc.1080G>A (p.Lys360=)
c.921G>A (p.Lys307=)
c.981G>A (p.Lys327=)
 dbSNP gnomAD v3 gnomAD v4
19g.18787547T>ACA404888087COMPc.1079A>T (p.Lys360Met)
c.920A>T (p.Lys307Met)
c.980A>T (p.Lys327Met)
 gnomAD v4
19g.18787547T>CCA404888090COMPc.1079A>G (p.Lys360Arg)
c.920A>G (p.Lys307Arg)
c.980A>G (p.Lys327Arg)
19g.18787547T>GCA404888093COMPc.1079A>C (p.Lys360Thr)
c.920A>C (p.Lys307Thr)
c.980A>C (p.Lys327Thr)
 dbSNP gnomAD v4
19g.18787547T=CA2326526012COMPc.1079A= (p.Lys360=)
c.920A= (p.Lys307=)
c.980A= (p.Lys327=)
19g.18787550dupCA2583622631COMPc.1079dup (p.Asp361GlyfsTer29)
c.920dup (p.Asp308GlyfsTer29)
c.980dup (p.Asp328GlyfsTer29)
 gnomAD v4
19g.18787548T>ACA404888097COMPc.1078A>T (p.Lys360Ter)
c.919A>T (p.Lys307Ter)
c.979A>T (p.Lys327Ter)
19g.18787548T>CCA404888102COMPc.1078A>G (p.Lys360Glu)
c.919A>G (p.Lys307Glu)
c.979A>G (p.Lys327Glu)
19g.18787548T>GCA404888099COMPc.1078A>C (p.Lys360Gln)
c.919A>C (p.Lys307Gln)
c.979A>C (p.Lys327Gln)
19g.18787549T>ACA404888110COMPc.1077A>T (p.Gln359His)
c.918A>T (p.Gln306His)
c.978A>T (p.Gln326His)
19g.18787549T>CCA506053078COMPc.1077A>G (p.Gln359=)
c.918A>G (p.Gln306=)
c.978A>G (p.Gln326=)
19g.18787549T>GCA404888112COMPc.1077A>C (p.Gln359His)
c.918A>C (p.Gln306His)
c.978A>C (p.Gln326His)
19g.18787550T>ACA404888116COMPc.1076A>T (p.Gln359Leu)
c.917A>T (p.Gln306Leu)
c.977A>T (p.Gln326Leu)
19g.18787550T>CCA404888121COMPc.1076A>G (p.Gln359Arg)
c.917A>G (p.Gln306Arg)
c.977A>G (p.Gln326Arg)
19g.18787550T>GCA404888124COMPc.1076A>C (p.Gln359Pro)
c.917A>C (p.Gln306Pro)
c.977A>C (p.Gln326Pro)
19g.18787551G>ACA404888131COMPc.1075C>T (p.Gln359Ter)
c.916C>T (p.Gln306Ter)
c.976C>T (p.Gln326Ter)
19g.18787551G>CCA404888137COMPc.1075C>G (p.Gln359Glu)
c.916C>G (p.Gln306Glu)
c.976C>G (p.Gln326Glu)
19g.18787551G>TCA404888140COMPc.1075C>A (p.Gln359Lys)
c.916C>A (p.Gln306Lys)
c.976C>A (p.Gln326Lys)
19g.18787552G>ACA506053079COMPc.1074C>T (p.Asp358=)
c.915C>T (p.Asp305=)
c.975C>T (p.Asp325=)
19g.18787552G>CCA404888145COMPc.1074C>G (p.Asp358Glu)
c.915C>G (p.Asp305Glu)
c.975C>G (p.Asp325Glu)
19g.18787552G>TCA404888148COMPc.1074C>A (p.Asp358Glu)
c.915C>A (p.Asp305Glu)
c.975C>A (p.Asp325Glu)
 gnomAD v4
19g.18787553T>ACA404888152COMPc.1073A>T (p.Asp358Val)
c.914A>T (p.Asp305Val)
c.974A>T (p.Asp325Val)
19g.18787553T>CCA404888154COMPc.1073A>G (p.Asp358Gly)
c.914A>G (p.Asp305Gly)
c.974A>G (p.Asp325Gly)
19g.18787553T>GCA404888157COMPc.1073A>C (p.Asp358Ala)
c.914A>C (p.Asp305Ala)
c.974A>C (p.Asp325Ala)
19g.18787554C>ACA404888162COMPc.1072G>T (p.Asp358Tyr)
c.913G>T (p.Asp305Tyr)
c.973G>T (p.Asp325Tyr)
 ClinVar dbSNP gnomAD v4
19g.18787554C=CA2326526014COMPc.1072G= (p.Asp358=)
c.913G= (p.Asp305=)
c.973G= (p.Asp325=)
19g.18787554C>GCA9316547COMPc.1072G>C (p.Asp358His)
c.913G>C (p.Asp305His)
c.973G>C (p.Asp325His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787554C>TCA404888158COMPc.1072G>A (p.Asp358Asn)
c.913G>A (p.Asp305Asn)
c.973G>A (p.Asp325Asn)
19g.18787555G>ACA506053081COMPc.1071C>T (p.Asp357=)
c.912C>T (p.Asp304=)
c.972C>T (p.Asp324=)
 gnomAD v4
19g.18787555G>CCA404888164COMPc.1071C>G (p.Asp357Glu)
c.912C>G (p.Asp304Glu)
c.972C>G (p.Asp324Glu)
19g.18787555G=CA2326526016COMPc.1071C= (p.Asp357=)
c.912C= (p.Asp304=)
c.972C= (p.Asp324=)
19g.18787555G>TCA404888167COMPc.1071C>A (p.Asp357Glu)
c.912C>A (p.Asp304Glu)
c.972C>A (p.Asp324Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.18787556T>ACA404888170COMPc.1070A>T (p.Asp357Val)
c.911A>T (p.Asp304Val)
c.971A>T (p.Asp324Val)
19g.18787556T>CCA404888173COMPc.1070A>G (p.Asp357Gly)
c.911A>G (p.Asp304Gly)
c.971A>G (p.Asp324Gly)
19g.18787556T>GCA404888174COMPc.1070A>C (p.Asp357Ala)
c.911A>C (p.Asp304Ala)
c.971A>C (p.Asp324Ala)
19g.18787556_18787557delinsAACA2697556420COMPc.1069_1070delinsTT (p.Asp357Phe)
c.910_911delinsTT (p.Asp304Phe)
c.970_971delinsTT (p.Asp324Phe)
 ClinVar
19g.18787557C>ACA404888175COMPc.1069G>T (p.Asp357Tyr)
c.910G>T (p.Asp304Tyr)
c.970G>T (p.Asp324Tyr)
19g.18787557C=CA2326526019COMPc.1069G= (p.Asp357=)
c.910G= (p.Asp304=)
c.970G= (p.Asp324=)
19g.18787557C>GCA404888177COMPc.1069G>C (p.Asp357His)
c.910G>C (p.Asp304His)
c.970G>C (p.Asp324His)
19g.18787557C>TCA404888179COMPc.1069G>A (p.Asp357Asn)
c.910G>A (p.Asp304Asn)
c.970G>A (p.Asp324Asn)
 dbSNP
19g.18787558G>ACA506053082COMPc.1068C>T (p.Asn356=)
c.909C>T (p.Asn303=)
c.969C>T (p.Asn323=)
 dbSNP gnomAD v4
19g.18787558G>CCA404888181COMPc.1068C>G (p.Asn356Lys)
c.909C>G (p.Asn303Lys)
c.969C>G (p.Asn323Lys)
 ClinVar dbSNP gnomAD v4
19g.18787558G=CA2326526027COMPc.1068C= (p.Asn356=)
c.909C= (p.Asn303=)
c.969C= (p.Asn323=)
19g.18787558G>TCA404888184COMPc.1068C>A (p.Asn356Lys)
c.909C>A (p.Asn303Lys)
c.969C>A (p.Asn323Lys)
 dbSNP COSMIC
19g.18787559T>ACA404888190COMPc.1067A>T (p.Asn356Ile)
c.908A>T (p.Asn303Ile)
c.968A>T (p.Asn323Ile)
19g.18787559T>CCA9316548COMPc.1067A>G (p.Asn356Ser)
c.908A>G (p.Asn303Ser)
c.968A>G (p.Asn323Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787559T>GCA404888192COMPc.1067A>C (p.Asn356Thr)
c.908A>C (p.Asn303Thr)
c.968A>C (p.Asn323Thr)
19g.18787559T=CA2326526029COMPc.1067A= (p.Asn356=)
c.908A= (p.Asn303=)
c.968A= (p.Asn323=)
19g.18787560T>ACA404888203COMPc.1066A>T (p.Asn356Tyr)
c.907A>T (p.Asn303Tyr)
c.967A>T (p.Asn323Tyr)
19g.18787560T>CCA404888206COMPc.1066A>G (p.Asn356Asp)
c.907A>G (p.Asn303Asp)
c.967A>G (p.Asn323Asp)
19g.18787560T>GCA404888195COMPc.1066A>C (p.Asn356His)
c.907A>C (p.Asn303His)
c.967A>C (p.Asn323His)
19g.18787561delCA2583622632COMPc.1065del (p.Asn356ThrfsTer?)
c.906del (p.Asn303ThrfsTer?)
c.966del (p.Asn323ThrfsTer?)
 gnomAD v4
19g.18787561C>ACA404888211COMPc.1065G>T (p.Lys355Asn)
c.906G>T (p.Lys302Asn)
c.966G>T (p.Lys322Asn)
 gnomAD v4
19g.18787561C=CA2326526031COMPc.1065G= (p.Lys355=)
c.906G= (p.Lys302=)
c.966G= (p.Lys322=)
19g.18787561C>GCA404888214COMPc.1065G>C (p.Lys355Asn)
c.906G>C (p.Lys302Asn)
c.966G>C (p.Lys322Asn)
19g.18787561C>TCA9316549COMPc.1065G>A (p.Lys355=)
c.906G>A (p.Lys302=)
c.966G>A (p.Lys322=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787562T>ACA404888221COMPc.1064A>T (p.Lys355Met)
c.905A>T (p.Lys302Met)
c.965A>T (p.Lys322Met)
19g.18787562T>CCA404888223COMPc.1064A>G (p.Lys355Arg)
c.905A>G (p.Lys302Arg)
c.965A>G (p.Lys322Arg)
 gnomAD v4
19g.18787562T>GCA404888226COMPc.1064A>C (p.Lys355Thr)
c.905A>C (p.Lys302Thr)
c.965A>C (p.Lys322Thr)
19g.18787563T>ACA404888229COMPc.1063A>T (p.Lys355Ter)
c.904A>T (p.Lys302Ter)
c.964A>T (p.Lys322Ter)
19g.18787563T>CCA404888230COMPc.1063A>G (p.Lys355Glu)
c.904A>G (p.Lys302Glu)
c.964A>G (p.Lys322Glu)
19g.18787563T>GCA404888234COMPc.1063A>C (p.Lys355Gln)
c.904A>C (p.Lys302Gln)
c.964A>C (p.Lys322Gln)
19g.18787564C>ACA404888237COMPc.1062G>T (p.Gln354His)
c.903G>T (p.Gln301His)
c.963G>T (p.Gln321His)
19g.18787564C>GCA404888254COMPc.1062G>C (p.Gln354His)
c.903G>C (p.Gln301His)
c.963G>C (p.Gln321His)
19g.18787564C>TCA506053083COMPc.1062G>A (p.Gln354=)
c.903G>A (p.Gln301=)
c.963G>A (p.Gln321=)
19g.18787565T>ACA404888264COMPc.1061A>T (p.Gln354Leu)
c.902A>T (p.Gln301Leu)
c.962A>T (p.Gln321Leu)
19g.18787565T>CCA404888262COMPc.1061A>G (p.Gln354Arg)
c.902A>G (p.Gln301Arg)
c.962A>G (p.Gln321Arg)
19g.18787565T>GCA404888260COMPc.1061A>C (p.Gln354Pro)
c.902A>C (p.Gln301Pro)
c.962A>C (p.Gln321Pro)
19g.18787566G>ACA404888268COMPc.1060C>T (p.Gln354Ter)
c.901C>T (p.Gln301Ter)
c.961C>T (p.Gln321Ter)
19g.18787566G>CCA404888275COMPc.1060C>G (p.Gln354Glu)
c.901C>G (p.Gln301Glu)
c.961C>G (p.Gln321Glu)
19g.18787566G>TCA404888278COMPc.1060C>A (p.Gln354Lys)
c.901C>A (p.Gln301Lys)
c.961C>A (p.Gln321Lys)
19g.18787567G>ACA9316550COMPc.1059C>T (p.Ser353=)
c.900C>T (p.Ser300=)
c.960C>T (p.Ser320=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787567G>CCA506053084COMPc.1059C>G (p.Ser353=)
c.900C>G (p.Ser300=)
c.960C>G (p.Ser320=)
19g.18787567G=CA2326526034COMPc.1059C= (p.Ser353=)
c.900C= (p.Ser300=)
c.960C= (p.Ser320=)
19g.18787567G>TCA506053085COMPc.1059C>A (p.Ser353=)
c.900C>A (p.Ser300=)
c.960C>A (p.Ser320=)
19g.18787568G>ACA404888287COMPc.1058C>T (p.Ser353Phe)
c.899C>T (p.Ser300Phe)
c.959C>T (p.Ser320Phe)
 gnomAD v4
19g.18787568G>CCA404888291COMPc.1058C>G (p.Ser353Cys)
c.899C>G (p.Ser300Cys)
c.959C>G (p.Ser320Cys)
19g.18787568G>TCA404888294COMPc.1058C>A (p.Ser353Tyr)
c.899C>A (p.Ser300Tyr)
c.959C>A (p.Ser320Tyr)
 COSMIC
19g.18787569A=CA2326526037COMPc.1057T= (p.Ser353=)
c.898T= (p.Ser300=)
c.958T= (p.Ser320=)
19g.18787569A>CCA404888303COMPc.1057T>G (p.Ser353Ala)
c.898T>G (p.Ser300Ala)
c.958T>G (p.Ser320Ala)
19g.18787569A>GCA404888305COMPc.1057T>C (p.Ser353Pro)
c.898T>C (p.Ser300Pro)
c.958T>C (p.Ser320Pro)
 dbSNP gnomAD v2 gnomAD v4
19g.18787569A>TCA404888308COMPc.1057T>A (p.Ser353Thr)
c.898T>A (p.Ser300Thr)
c.958T>A (p.Ser320Thr)
19g.18787570C>ACA506053086COMPc.1056G>T (p.Arg352=)
c.897G>T (p.Arg299=)
c.957G>T (p.Arg319=)
 dbSNP gnomAD v4
19g.18787570C=CA2326526040COMPc.1056G= (p.Arg352=)
c.897G= (p.Arg299=)
c.957G= (p.Arg319=)
19g.18787570C>GCA506053087COMPc.1056G>C (p.Arg352=)
c.897G>C (p.Arg299=)
c.957G>C (p.Arg319=)
19g.18787570C>TCA506053088COMPc.1056G>A (p.Arg352=)
c.897G>A (p.Arg299=)
c.957G>A (p.Arg319=)
 gnomAD v4
19g.18787571C>ACA404888313COMPc.1055G>T (p.Arg352Leu)
c.896G>T (p.Arg299Leu)
c.956G>T (p.Arg319Leu)
19g.18787571C=CA2326526041COMPc.1055G= (p.Arg352=)
c.896G= (p.Arg299=)
c.956G= (p.Arg319=)
19g.18787571C>GCA9316552COMPc.1055G>C (p.Arg352Pro)
c.896G>C (p.Arg299Pro)
c.956G>C (p.Arg319Pro)
 dbSNP ExAC
19g.18787571C>TCA9316551COMPc.1055G>A (p.Arg352Gln)
c.896G>A (p.Arg299Gln)
c.956G>A (p.Arg319Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787572G>ACA9316553COMPc.1054C>T (p.Arg352Trp)
c.895C>T (p.Arg299Trp)
c.955C>T (p.Arg319Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787572G>CCA404888325COMPc.1054C>G (p.Arg352Gly)
c.895C>G (p.Arg299Gly)
c.955C>G (p.Arg319Gly)
 dbSNP gnomAD v2 gnomAD v4
19g.18787572G=CA2326526044COMPc.1054C= (p.Arg352=)
c.895C= (p.Arg299=)
c.955C= (p.Arg319=)
19g.18787572G>TCA506053089COMPc.1054C>A (p.Arg352=)
c.895C>A (p.Arg299=)
c.955C>A (p.Arg319=)
19g.18787573G>ACA506053090COMPc.1053C>T (p.Cys351=)
c.894C>T (p.Cys298=)
c.954C>T (p.Cys318=)
19g.18787573G>CCA404888330COMPc.1053C>G (p.Cys351Trp)
c.894C>G (p.Cys298Trp)
c.954C>G (p.Cys318Trp)
19g.18787573G>TCA404888334COMPc.1053C>A (p.Cys351Ter)
c.894C>A (p.Cys298Ter)
c.954C>A (p.Cys318Ter)
19g.18787574C>ACA404888337COMPc.1052G>T (p.Cys351Phe)
c.893G>T (p.Cys298Phe)
c.953G>T (p.Cys318Phe)
19g.18787574C>GCA404888343COMPc.1052G>C (p.Cys351Ser)
c.893G>C (p.Cys298Ser)
c.953G>C (p.Cys318Ser)
19g.18787574C>TCA404888339COMPc.1052G>A (p.Cys351Tyr)
c.893G>A (p.Cys298Tyr)
c.953G>A (p.Cys318Tyr)
 ClinVar
19g.18787575A>CCA404888347COMPc.1051T>G (p.Cys351Gly)
c.892T>G (p.Cys298Gly)
c.952T>G (p.Cys318Gly)
19g.18787575A>GCA404888350COMPc.1051T>C (p.Cys351Arg)
c.892T>C (p.Cys298Arg)
c.952T>C (p.Cys318Arg)
 ClinVar dbSNP
19g.18787575A>TCA404888352COMPc.1051T>A (p.Cys351Ser)
c.892T>A (p.Cys298Ser)
c.952T>A (p.Cys318Ser)
19g.18787576G>ACA506053091COMPc.1050C>T (p.Asn350=)
c.891C>T (p.Asn297=)
c.951C>T (p.Asn317=)
19g.18787576G>CCA404888357COMPc.1050C>G (p.Asn350Lys)
c.891C>G (p.Asn297Lys)
c.951C>G (p.Asn317Lys)
19g.18787576G>TCA404888358COMPc.1050C>A (p.Asn350Lys)
c.891C>A (p.Asn297Lys)
c.951C>A (p.Asn317Lys)
19g.18787577T>ACA404888362COMPc.1049A>T (p.Asn350Ile)
c.890A>T (p.Asn297Ile)
c.950A>T (p.Asn317Ile)
19g.18787577T>CCA404888363COMPc.1049A>G (p.Asn350Ser)
c.890A>G (p.Asn297Ser)
c.950A>G (p.Asn317Ser)
 dbSNP gnomAD v4
19g.18787577T>GCA404888367COMPc.1049A>C (p.Asn350Thr)
c.890A>C (p.Asn297Thr)
c.950A>C (p.Asn317Thr)
 ClinVar dbSNP
19g.18787577T=CA2326526047COMPc.1049A= (p.Asn350=)
c.890A= (p.Asn297=)
c.950A= (p.Asn317=)
19g.18787578T>ACA404888375COMPc.1048A>T (p.Asn350Tyr)
c.889A>T (p.Asn297Tyr)
c.949A>T (p.Asn317Tyr)
19g.18787578T>CCA404888384COMPc.1048A>G (p.Asn350Asp)
c.889A>G (p.Asn297Asp)
c.949A>G (p.Asn317Asp)
19g.18787578T>GCA404888386COMPc.1048A>C (p.Asn350His)
c.889A>C (p.Asn297His)
c.949A>C (p.Asn317His)
19g.18787579G>ACA506053092COMPc.1047C>T (p.Asp349=)
c.888C>T (p.Asp296=)
c.948C>T (p.Asp316=)
 dbSNP
19g.18787579G>CCA404888395COMPc.1047C>G (p.Asp349Glu)
c.888C>G (p.Asp296Glu)
c.948C>G (p.Asp316Glu)
19g.18787579G=CA2326526049COMPc.1047C= (p.Asp349=)
c.888C= (p.Asp296=)
c.948C= (p.Asp316=)
19g.18787579G>TCA404888391COMPc.1047C>A (p.Asp349Glu)
c.888C>A (p.Asp296Glu)
c.948C>A (p.Asp316Glu)
19g.18787580T>ACA404888408COMPc.1046A>T (p.Asp349Val)
c.887A>T (p.Asp296Val)
c.947A>T (p.Asp316Val)
19g.18787580T>CCA404888423COMPc.1046A>G (p.Asp349Gly)
c.887A>G (p.Asp296Gly)
c.947A>G (p.Asp316Gly)
19g.18787580T>GCA404888425COMPc.1046A>C (p.Asp349Ala)
c.887A>C (p.Asp296Ala)
c.947A>C (p.Asp316Ala)
19g.18787581C>ACA404888429COMPc.1045G>T (p.Asp349Tyr)
c.886G>T (p.Asp296Tyr)
c.946G>T (p.Asp316Tyr)
19g.18787581C>GCA404888430COMPc.1045G>C (p.Asp349His)
c.886G>C (p.Asp296His)
c.946G>C (p.Asp316His)
 ClinVar
19g.18787581C>TCA404888431COMPc.1045G>A (p.Asp349Asn)
c.886G>A (p.Asp296Asn)
c.946G>A (p.Asp316Asn)
 ClinVar dbSNP COSMIC
19g.18787582G>ACA506053093COMPc.1044C>T (p.Cys348=)
c.885C>T (p.Cys295=)
c.945C>T (p.Cys315=)
 gnomAD v4
19g.18787582G>CCA404888432COMPc.1044C>G (p.Cys348Trp)
c.885C>G (p.Cys295Trp)
c.945C>G (p.Cys315Trp)
19g.18787582G=CA2326526053COMPc.1044C= (p.Cys348=)
c.885C= (p.Cys295=)
c.945C= (p.Cys315=)
19g.18787582G>TCA9316554COMPc.1044C>A (p.Cys348Ter)
c.885C>A (p.Cys295Ter)
c.945C>A (p.Cys315Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787583C>ACA404888442COMPc.1043G>T (p.Cys348Phe)
c.884G>T (p.Cys295Phe)
c.944G>T (p.Cys315Phe)
19g.18787583C>GCA404888450COMPc.1043G>C (p.Cys348Ser)
c.884G>C (p.Cys295Ser)
c.944G>C (p.Cys315Ser)
19g.18787583C>TCA404888452COMPc.1043G>A (p.Cys348Tyr)
c.884G>A (p.Cys295Tyr)
c.944G>A (p.Cys315Tyr)
 ClinVar dbSNP
19g.18787584A=CA2326526060COMPc.1042T= (p.Cys348=)
c.883T= (p.Cys295=)
c.943T= (p.Cys315=)
19g.18787584A>CCA404888456COMPc.1042T>G (p.Cys348Gly)
c.883T>G (p.Cys295Gly)
c.943T>G (p.Cys315Gly)
19g.18787584A>GCA254703COMPc.1042T>C (p.Cys348Arg)
c.883T>C (p.Cys295Arg)
c.943T>C (p.Cys315Arg)
 ClinVar dbSNP
19g.18787584A>TCA404888453COMPc.1042T>A (p.Cys348Ser)
c.883T>A (p.Cys295Ser)
c.943T>A (p.Cys315Ser)
19g.18787585C>ACA506053094COMPc.1041G>T (p.Ala347=)
c.882G>T (p.Ala294=)
c.942G>T (p.Ala314=)
 gnomAD v4
19g.18787585C>GCA506053096COMPc.1041G>C (p.Ala347=)
c.882G>C (p.Ala294=)
c.942G>C (p.Ala314=)
19g.18787585C>TCA506053095COMPc.1041G>A (p.Ala347=)
c.882G>A (p.Ala294=)
c.942G>A (p.Ala314=)
 gnomAD v4
19g.18787586G>ACA404888461COMPc.1040C>T (p.Ala347Val)
c.881C>T (p.Ala294Val)
c.941C>T (p.Ala314Val)
 gnomAD v4
19g.18787586G>CCA404888463COMPc.1040C>G (p.Ala347Gly)
c.881C>G (p.Ala294Gly)
c.941C>G (p.Ala314Gly)
19g.18787586G=CA2326526064COMPc.1040C= (p.Ala347=)
c.881C= (p.Ala294=)
c.941C= (p.Ala314=)
19g.18787586G>TCA9316555COMPc.1040C>A (p.Ala347Glu)
c.881C>A (p.Ala294Glu)
c.941C>A (p.Ala314Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787587C>ACA404888466COMPc.1039G>T (p.Ala347Ser)
c.880G>T (p.Ala294Ser)
c.940G>T (p.Ala314Ser)
19g.18787587C=CA2326526067COMPc.1039G= (p.Ala347=)
c.880G= (p.Ala294=)
c.940G= (p.Ala314=)
19g.18787587C>GCA404888468COMPc.1039G>C (p.Ala347Pro)
c.880G>C (p.Ala294Pro)
c.940G>C (p.Ala314Pro)
 dbSNP
19g.18787587C>TCA404888472COMPc.1039G>A (p.Ala347Thr)
c.880G>A (p.Ala294Thr)
c.940G>A (p.Ala314Thr)
 gnomAD v4
19g.18787588A>CCA404888480COMPc.1038T>G (p.Asp346Glu)
c.879T>G (p.Asp293Glu)
c.939T>G (p.Asp313Glu)
19g.18787588A>GCA506053097COMPc.1038T>C (p.Asp346=)
c.879T>C (p.Asp293=)
c.939T>C (p.Asp313=)
19g.18787588A>TCA404888479COMPc.1038T>A (p.Asp346Glu)
c.879T>A (p.Asp293Glu)
c.939T>A (p.Asp313Glu)
19g.18787589T>ACA404888484COMPc.1037A>T (p.Asp346Val)
c.878A>T (p.Asp293Val)
c.938A>T (p.Asp313Val)
 dbSNP
19g.18787589T>CCA404888485COMPc.1037A>G (p.Asp346Gly)
c.878A>G (p.Asp293Gly)
c.938A>G (p.Asp313Gly)
19g.18787589T>GCA404888487COMPc.1037A>C (p.Asp346Ala)
c.878A>C (p.Asp293Ala)
c.938A>C (p.Asp313Ala)
19g.18787589T=CA2326526069COMPc.1037A= (p.Asp346=)
c.878A= (p.Asp293=)
c.938A= (p.Asp313=)
19g.18787590C>ACA9316556COMPc.1036G>T (p.Asp346Tyr)
c.877G>T (p.Asp293Tyr)
c.937G>T (p.Asp313Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.18787590C=CA2326526072COMPc.1036G= (p.Asp346=)
c.877G= (p.Asp293=)
c.937G= (p.Asp313=)
19g.18787590C>GCA404888492COMPc.1036G>C (p.Asp346His)
c.877G>C (p.Asp293His)
c.937G>C (p.Asp313His)
19g.18787590C>TCA404888494COMPc.1036G>A (p.Asp346Asn)
c.877G>A (p.Asp293Asn)
c.937G>A (p.Asp313Asn)
19g.18787591G>ACA506053098COMPc.1035C>T (p.Gly345=)
c.876C>T (p.Gly292=)
c.936C>T (p.Gly312=)
19g.18787591G>CCA506053099COMPc.1035C>G (p.Gly345=)
c.876C>G (p.Gly292=)
c.936C>G (p.Gly312=)
19g.18787591G=CA2326526074COMPc.1035C= (p.Gly345=)
c.876C= (p.Gly292=)
c.936C= (p.Gly312=)
19g.18787591G>TCA506053100COMPc.1035C>A (p.Gly345=)
c.876C>A (p.Gly292=)
c.936C>A (p.Gly312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787592C>ACA404888497COMPc.1034G>T (p.Gly345Val)
c.875G>T (p.Gly292Val)
c.935G>T (p.Gly312Val)
19g.18787592C>GCA404888500COMPc.1034G>C (p.Gly345Ala)
c.875G>C (p.Gly292Ala)
c.935G>C (p.Gly312Ala)
19g.18787592C>TCA404888499COMPc.1034G>A (p.Gly345Asp)
c.875G>A (p.Gly292Asp)
c.935G>A (p.Gly312Asp)
19g.18787593_18787595delCA2695228441COMPc.1032_1034del (p.Trp344_Gly345delinsCys)
c.873_875del (p.Trp291_Gly292delinsCys)
c.933_935del (p.Trp311_Gly312delinsCys)
19g.18787593C>ACA404888504COMPc.1033G>T (p.Gly345Cys)
c.874G>T (p.Gly292Cys)
c.934G>T (p.Gly312Cys)
19g.18787593C>GCA404888507COMPc.1033G>C (p.Gly345Arg)
c.874G>C (p.Gly292Arg)
c.934G>C (p.Gly312Arg)
19g.18787593C>TCA404888509COMPc.1033G>A (p.Gly345Ser)
c.874G>A (p.Gly292Ser)
c.934G>A (p.Gly312Ser)
19g.18787594C>ACA404888512COMPc.1032G>T (p.Trp344Cys)
c.873G>T (p.Trp291Cys)
c.933G>T (p.Trp311Cys)
19g.18787594C=CA2326526078COMPc.1032G= (p.Trp344=)
c.873G= (p.Trp291=)
c.933G= (p.Trp311=)
19g.18787594C>GCA404888514COMPc.1032G>C (p.Trp344Cys)
c.873G>C (p.Trp291Cys)
c.933G>C (p.Trp311Cys)
 gnomAD v4
19g.18787594C>TCA404888522COMPc.1032G>A (p.Trp344Ter)
c.873G>A (p.Trp291Ter)
c.933G>A (p.Trp311Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787595C>ACA404888526COMPc.1031G>T (p.Trp344Leu)
c.872G>T (p.Trp291Leu)
c.932G>T (p.Trp311Leu)
 gnomAD v4
19g.18787595C=CA2326526081COMPc.1031G= (p.Trp344=)
c.872G= (p.Trp291=)
c.932G= (p.Trp311=)
19g.18787595C>GCA9316557COMPc.1031G>C (p.Trp344Ser)
c.872G>C (p.Trp291Ser)
c.932G>C (p.Trp311Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18787595C>TCA404888530COMPc.1031G>A (p.Trp344Ter)
c.872G>A (p.Trp291Ter)
c.932G>A (p.Trp311Ter)
19g.18787596A=CA2326526084COMPc.1030T= (p.Trp344=)
c.871T= (p.Trp291=)
c.931T= (p.Trp311=)
19g.18787596A>CCA404888531COMPc.1030T>G (p.Trp344Gly)
c.871T>G (p.Trp291Gly)
c.931T>G (p.Trp311Gly)
 dbSNP
19g.18787596A>GCA404888532COMPc.1030T>C (p.Trp344Arg)
c.871T>C (p.Trp291Arg)
c.931T>C (p.Trp311Arg)
 gnomAD v4
19g.18787596A>TCA404888534COMPc.1030T>A (p.Trp344Arg)
c.871T>A (p.Trp291Arg)
c.931T>A (p.Trp311Arg)
 gnomAD v4
19g.18787597C>ACA404888539COMPc.1029G>T (p.Lys343Asn)
c.870G>T (p.Lys290Asn)
c.930G>T (p.Lys310Asn)
19g.18787597C>GCA404888537COMPc.1029G>C (p.Lys343Asn)
c.870G>C (p.Lys290Asn)
c.930G>C (p.Lys310Asn)
19g.18787597C>TCA506053101COMPc.1029G>A (p.Lys343=)
c.870G>A (p.Lys290=)
c.930G>A (p.Lys310=)
19g.18787598T>ACA404888543COMPc.1028A>T (p.Lys343Met)
c.869A>T (p.Lys290Met)
c.929A>T (p.Lys310Met)
19g.18787598T>CCA404888547COMPc.1028A>G (p.Lys343Arg)
c.869A>G (p.Lys290Arg)
c.929A>G (p.Lys310Arg)
19g.18787598T>GCA404888545COMPc.1028A>C (p.Lys343Thr)
c.869A>C (p.Lys290Thr)
c.929A>C (p.Lys310Thr)
19g.18787599T>ACA404888552COMPc.1027A>T (p.Lys343Ter)
c.868A>T (p.Lys290Ter)
c.928A>T (p.Lys310Ter)
19g.18787599T>CCA404888562COMPc.1027A>G (p.Lys343Glu)
c.868A>G (p.Lys290Glu)
c.928A>G (p.Lys310Glu)
19g.18787599T>GCA404888566COMPc.1027A>C (p.Lys343Gln)
c.868A>C (p.Lys290Gln)
c.928A>C (p.Lys310Gln)
19g.18787600_18787601delCA2583622633COMPc.1026_1027del (p.Asp342GlufsTer?)
c.867_868del (p.Asp289GlufsTer?)
c.927_928del (p.Asp309GlufsTer?)
 gnomAD v4
19g.18787599_18787605delinsTGTCCTCCA2326526086COMPc.1021_1027delinsGAGGACA (p.Glu341=)
c.862_868delinsGAGGACA (p.Glu288=)
c.922_928delinsGAGGACA (p.Glu308=)
19g.18787600G>ACA506053102COMPc.1026C>T (p.Asp342=)
c.867C>T (p.Asp289=)
c.927C>T (p.Asp309=)
19g.18787600G>CCA404888571COMPc.1026C>G (p.Asp342Glu)
c.867C>G (p.Asp289Glu)
c.927C>G (p.Asp309Glu)
19g.18787600G>TCA404888587COMPc.1026C>A (p.Asp342Glu)
c.867C>A (p.Asp289Glu)
c.927C>A (p.Asp309Glu)
19g.18787604_18787609delCA16620814COMPc.1021_1026del (p.Glu341_Asp342del)
c.862_867del (p.Glu288_Asp289del)
c.922_927del (p.Glu308_Asp309del)
 ClinVar dbSNP
19g.18787601T>ACA404888594COMPc.1025A>T (p.Asp342Val)
c.866A>T (p.Asp289Val)
c.926A>T (p.Asp309Val)
19g.18787601T>CCA404888597COMPc.1025A>G (p.Asp342Gly)
c.866A>G (p.Asp289Gly)
c.926A>G (p.Asp309Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.18787601T>GCA404888601COMPc.1025A>C (p.Asp342Ala)
c.866A>C (p.Asp289Ala)
c.926A>C (p.Asp309Ala)
19g.18787601T=CA2326526094COMPc.1025A= (p.Asp342=)
c.866A= (p.Asp289=)
c.926A= (p.Asp309=)
19g.18787603_18787605delCA2695228442COMPc.1023_1025del (p.Glu341del)
c.864_866del (p.Glu288del)
c.924_926del (p.Glu308del)
19g.18787602C>ACA120166COMPc.1024G>T (p.Asp342Tyr)
c.865G>T (p.Asp289Tyr)
c.925G>T (p.Asp309Tyr)
 ClinVar dbSNP
19g.18787602C=CA2326526099COMPc.1024G= (p.Asp342=)
c.865G= (p.Asp289=)
c.925G= (p.Asp309=)
19g.18787602C>GCA404888619COMPc.1024G>C (p.Asp342His)
c.865G>C (p.Asp289His)
c.925G>C (p.Asp309His)
19g.18787602C>TCA404888622COMPc.1024G>A (p.Asp342Asn)
c.865G>A (p.Asp289Asn)
c.925G>A (p.Asp309Asn)
19g.18787603C>ACA404888625COMPc.1023G>T (p.Glu341Asp)
c.864G>T (p.Glu288Asp)
c.924G>T (p.Glu308Asp)
19g.18787603C>GCA404888626COMPc.1023G>C (p.Glu341Asp)
c.864G>C (p.Glu288Asp)
c.924G>C (p.Glu308Asp)
19g.18787603C>TCA506053103COMPc.1023G>A (p.Glu341=)
c.864G>A (p.Glu288=)
c.924G>A (p.Glu308=)
19g.18787604T>ACA404888631COMPc.1022A>T (p.Glu341Val)
c.863A>T (p.Glu288Val)
c.923A>T (p.Glu308Val)
19g.18787604T>CCA404888628COMPc.1022A>G (p.Glu341Gly)
c.863A>G (p.Glu288Gly)
c.923A>G (p.Glu308Gly)
 dbSNP
19g.18787604T>GCA404888629COMPc.1022A>C (p.Glu341Ala)
c.863A>C (p.Glu288Ala)
c.923A>C (p.Glu308Ala)
19g.18787604T=CA2326526106COMPc.1022A= (p.Glu341=)
c.863A= (p.Glu288=)
c.923A= (p.Glu308=)
19g.18787605C>ACA404888632COMPc.1021G>T (p.Glu341Ter)
c.862G>T (p.Glu288Ter)
c.922G>T (p.Glu308Ter)
19g.18787605C=CA2326526114COMPc.1021G= (p.Glu341=)
c.862G= (p.Glu288=)
c.922G= (p.Glu308=)
19g.18787605C>GCA404888635COMPc.1021G>C (p.Glu341Gln)
c.862G>C (p.Glu288Gln)
c.922G>C (p.Glu308Gln)
 gnomAD v4
19g.18787605C>TCA9316558COMPc.1021G>A (p.Glu341Lys)
c.862G>A (p.Glu288Lys)
c.922G>A (p.Glu308Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.18787606G>ACA506053104COMPc.1020C>T (p.Asp340=)
c.861C>T (p.Asp287=)
c.921C>T (p.Asp307=)
 gnomAD v4
19g.18787606G>CCA306256700COMPc.1020C>G (p.Asp340Glu)
c.861C>G (p.Asp287Glu)
c.921C>G (p.Asp307Glu)
 dbSNP gnomAD v3 gnomAD v4
19g.18787606G=CA2326526116COMPc.1020C= (p.Asp340=)
c.861C= (p.Asp287=)
c.921C= (p.Asp307=)
19g.18787606G>TCA404888639COMPc.1020C>A (p.Asp340Glu)
c.861C>A (p.Asp287Glu)
c.921C>A (p.Asp307Glu)
19g.18787607T>ACA404888642COMPc.1019A>T (p.Asp340Val)
c.860A>T (p.Asp287Val)
c.920A>T (p.Asp307Val)
19g.18787607T>CCA404888644COMPc.1019A>G (p.Asp340Gly)
c.860A>G (p.Asp287Gly)
c.920A>G (p.Asp307Gly)
19g.18787607T>GCA404888646COMPc.1019A>C (p.Asp340Ala)
c.860A>C (p.Asp287Ala)
c.920A>C (p.Asp307Ala)
19g.18787608C>ACA404888648COMPc.1018G>T (p.Asp340Tyr)
c.859G>T (p.Asp287Tyr)
c.919G>T (p.Asp307Tyr)
19g.18787608C>GCA404888649COMPc.1018G>C (p.Asp340His)
c.859G>C (p.Asp287His)
c.919G>C (p.Asp307His)
 COSMIC
19g.18787608C>TCA404888650COMPc.1018G>A (p.Asp340Asn)
c.859G>A (p.Asp287Asn)
c.919G>A (p.Asp307Asn)
 gnomAD v4

Number of alleles fetched