17-7571752-T-G |
c.*1175A>C |
- |
3-UTRSNV |
11/11 |
- |
72 |
17-7571857-G-A |
c.*1070C>T |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7571857-G-C |
c.*1070C>G |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7571991-T-C |
c.*936A>G |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572041-C-T |
c.*886G>A |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7572072-G-A |
c.*855C>T |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572101-C-T |
c.*826G>A |
- |
3-UTRSNV |
11/11 |
- |
10 |
17-7572129-A-AA |
c.*800dup |
- |
3-UTRInsertion |
11/11 |
- |
1 |
17-7572293-C-G |
c.*634G>C |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572314-G-T |
c.*613C>A |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572314-G-C |
c.*613C>G |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572392-GA-AG |
c.*534_*535delinsCT |
- |
3-UTRBlockSubstitution |
11/11 |
- |
1 |
17-7572393-A-G |
c.*534T>C |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572413-A-G |
c.*514T>C |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7572436-C-T |
c.*491G>A |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7572442-C-T |
c.*485G>A |
- |
3-UTRSNV |
11/11 |
- |
7 |
17-7572599-C-T |
c.*328G>A |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7572613-C-T |
c.*314G>A |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572618-C-A |
c.*309G>T |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572722-C-T |
c.*205G>A |
- |
3-UTRSNV |
11/11 |
- |
2 |
17-7572822-G-A |
c.*105C>T |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572890-T-C |
c.*37A>G |
- |
3-UTRSNV |
11/11 |
- |
3 |
17-7572890-T-A |
c.*37A>T |
- |
3-UTRSNV |
11/11 |
- |
3 |
17-7572918-T-G |
c.*9A>C |
- |
3-UTRSNV |
11/11 |
- |
1 |
17-7572927-GTCAGTCTGAGTCAGGCCCTTCTGTCTTGAACATGAGTTTTTTATGGCGGGAGGTAGACT-G |
c.1124_1182del |
p.Gln375Profs*76 |
Multi:SpliceAcceptorDeletion,CdsStopDeletion |
11/11 |
- |
2 |
17-7572933-TGA-GAC |
c.1174_1176delinsGTC |
p.Ser392Val |
Missense |
11/11 |
- |
4 |
17-7572935-A-G |
c.1174T>C |
p.Ser392Pro |
Missense |
11/11 |
- |
1 |
17-7572935-A-C |
c.1174T>G |
p.Ser392Ala |
Missense |
11/11 |
- |
29 |
17-7572938-C-A |
c.1171G>T |
p.Asp391Tyr |
Missense |
11/11 |
- |
1 |
17-7572941-G-A |
c.1168C>T |
p.Pro390Ser |
Missense |
11/11 |
- |
1 |
17-7572942-C-T |
c.1167G>A |
p.Gly389Gly |
Synonymous |
11/11 |
- |
2 |
17-7572942-C-A |
c.1167G>T |
p.Gly389Gly |
Synonymous |
11/11 |
- |
2 |
17-7572942-C-G |
c.1167G>C |
p.Gly389Gly |
Synonymous |
11/11 |
- |
2 |
17-7572943-C-T |
c.1166G>A |
p.Gly389Glu |
Missense |
11/11 |
- |
3 |
17-7572944-C-A |
c.1165G>T |
p.Gly389Trp |
Missense |
11/11 |
- |
3 |
17-7572944-C-G |
c.1165G>C |
p.Gly389Arg |
Missense |
11/11 |
- |
1 |
17-7572944-C-T |
c.1165G>A |
p.Gly389Arg |
Missense |
11/11 |
- |
1 |
17-7572946-T-G |
c.1163A>C |
p.Glu388Ala |
Missense |
11/11 |
- |
4 |
17-7572950-T-C |
c.1159A>G |
p.Thr387Ala |
Missense |
11/11 |
- |
2 |
17-7572951-C-A |
c.1158G>T |
p.Lys386Asn |
Missense |
11/11 |
- |
1 |
17-7572951-C-G |
c.1158G>C |
p.Lys386Asn |
Missense |
11/11 |
- |
1 |
17-7572952-T-A |
c.1157A>T |
p.Lys386Met |
Missense |
11/11 |
- |
1 |
17-7572952-TT-GC |
c.1156_1157delinsGC |
p.Lys386Ala |
Missense |
11/11 |
- |
1 |
17-7572952-T-C |
c.1157A>G |
p.Lys386Arg |
Missense |
11/11 |
- |
30 |
17-7572955-AA-GC |
c.1153_1154delinsGC |
p.Phe385Ala |
Missense |
11/11 |
- |
2 |
17-7572957-C-A |
c.1152G>T |
p.Met384Ile |
Missense |
11/11 |
- |
1 |
17-7572957-C-T |
c.1152G>A |
p.Met384Ile |
Missense |
11/11 |
- |
1 |
17-7572957-C-G |
c.1152G>C |
p.Met384Ile |
Missense |
11/11 |
- |
1 |
17-7572961-AG-GC |
c.1147_1148delinsGC |
p.Leu383Ala |
Missense |
11/11 |
- |
2 |
17-7572962-G-A |
c.1147C>T |
p.Leu383Phe |
Missense |
11/11 |
- |
2 |
17-7572963-T-G |
c.1146A>C |
p.Lys382Asn |
Missense |
11/11 |
- |
1 |
17-7572963-T-A |
c.1146A>T |
p.Lys382Asn |
Missense |
11/11 |
- |
1 |
17-7572963-GTTTTTTATGGCGGGAG-G |
c.1134_1149del |
p.Arg379Cysfs*38 |
Frameshift |
11/11 |
- |
1 |
17-7572964-T-C |
c.1145A>G |
p.Lys382Arg |
Missense |
11/11 |
- |
30 |
17-7572964-TT-GC |
c.1144_1145delinsGC |
p.Lys382Ala |
Missense |
11/11 |
- |
4 |
17-7572964-T-G |
c.1145A>C |
p.Lys382Thr |
Missense |
11/11 |
- |
1 |
17-7572965-T-TA |
c.1143_1144insT |
p.Lys382* |
Nonsense |
11/11 |
- |
3 |
17-7572965-T-G |
c.1144A>C |
p.Lys382Gln |
Missense |
11/11 |
- |
7 |
17-7572967-T-C |
c.1142A>G |
p.Lys381Arg |
Missense |
11/11 |
- |
9 |
17-7572967-T-G |
c.1142A>C |
p.Lys381Thr |
Missense |
11/11 |
- |
1 |
17-7572967-TT-GC |
c.1141_1142delinsGC |
p.Lys381Ala |
Missense |
11/11 |
- |
4 |
17-7572968-T-G |
c.1141A>C |
p.Lys381Gln |
Missense |
11/11 |
- |
4 |
17-7572969-ATG-TGG |
c.1139_1140delinsCA |
p.His380Pro |
Missense |
11/11 |
- |
1 |
17-7572972-GC-AA |
c.1136_1137delinsTT |
p.Arg379Leu |
Missense |
11/11 |
- |
1 |
17-7572973-CG-AT |
c.1135_1136delinsAT |
p.Arg379Ile |
Missense |
11/11 |
- |
1 |
17-7572973-CG-GC |
c.1135_1136delinsGC |
p.Arg379Ala |
Missense |
11/11 |
- |
1 |
17-7572973-C-G |
c.1136G>C |
p.Arg379Pro |
Missense |
11/11 |
- |
1 |
17-7572973-C-T |
c.1136G>A |
p.Arg379His |
Missense |
11/11 |
- |
3 |
17-7572975-GGA-GAG |
c.1132_1133delinsCT |
p.Ser378Leu |
Missense |
11/11 |
- |
1 |
17-7572977-A-G |
c.1132T>C |
p.Ser378Pro |
Missense |
11/11 |
- |
3 |
17-7572977-A-C |
c.1132T>G |
p.Ser378Ala |
Missense |
11/11 |
- |
6 |
17-7572979-G-A |
c.1130C>T |
p.Thr377Ile |
Missense |
11/11 |
- |
1 |
17-7572980-T-G |
c.1129A>C |
p.Thr377Pro |
Missense |
11/11 |
- |
2 |
17-7572980-T-C |
c.1129A>G |
p.Thr377Ala |
Missense |
11/11 |
- |
4 |
17-7572983-A-C |
c.1126T>G |
p.Ser376Ala |
Missense |
11/11 |
- |
7 |
17-7572986-G-A |
c.1123C>T |
p.Gln375* |
Nonsense |
11/11 |
- |
1 |
17-7572989-C-G |
c.1120G>C |
p.Gly374Arg |
Missense |
11/11 |
- |
1 |
17-7572991-T-C |
c.1118A>G |
p.Lys373Arg |
Missense |
11/11 |
- |
18 |
17-7572992-T-TA |
c.1116_1117insT |
p.Lys373* |
Nonsense |
11/11 |
- |
1 |
17-7572992-T-G |
c.1117A>C |
p.Lys373Gln |
Missense |
11/11 |
- |
5 |
17-7572994-T-G |
c.1115A>C |
p.Lys372Thr |
Missense |
11/11 |
- |
1 |
17-7572994-T-C |
c.1115A>G |
p.Lys372Arg |
Missense |
11/11 |
- |
7 |
17-7572995-TT-T |
c.1118del |
p.Lys373Argfs*49 |
Frameshift |
11/11 |
- |
1 |
17-7572995-T-G |
c.1114A>C |
p.Lys372Gln |
Missense |
11/11 |
- |
1 |
17-7572996-G-T |
c.1113C>A |
p.Ser371Ser |
Synonymous |
11/11 |
- |
1 |
17-7572998-A-C |
c.1111T>G |
p.Ser371Ala |
Missense |
11/11 |
- |
3 |
17-7572999-CTT-TGT |
c.1109_1110delinsCA |
p.Lys370Thr |
Missense |
11/11 |
- |
1 |
17-7573000-TT-GC |
c.1108_1109delinsGC |
p.Lys370Ala |
Missense |
11/11 |
- |
3 |
17-7573000-T-C |
c.1109A>G |
p.Lys370Arg |
Missense |
11/11 |
- |
16 |
17-7573001-T-G |
c.1108A>C |
p.Lys370Gln |
Missense |
11/11 |
- |
2 |
17-7573001-T-C |
c.1108A>G |
p.Lys370Glu |
Missense |
11/11 |
- |
1 |
17-7573003-AG-TA |
c.1105_1106delinsTA |
p.Leu369* |
Nonsense |
11/11 |
- |
1 |
17-7573006-T-G |
c.1103A>C |
p.His368Pro |
Missense |
11/11 |
- |
1 |
17-7573010-T-A |
c.1101-2A>T |
- |
IntronicSNV |
- |
10/10 |
1 |
17-7573010-T-G |
c.1101-2A>C |
- |
IntronicSNV |
- |
10/10 |
1 |
17-7573057-G-A |
c.1101-49C>T |
- |
IntronicSNV |
- |
10/10 |
2 |
17-7573081-C-G |
c.1101-73G>C |
- |
IntronicSNV |
- |
10/10 |
1 |
17-7573229-C-T |
c.1101-221G>A |
- |
IntronicSNV |
- |
10/10 |
3 |
17-7573851-A-T |
c.1100+76T>A |
- |
IntronicSNV |
- |
10/10 |
1 |
17-7573897-T-G |
c.1100+30A>C |
- |
IntronicSNV |
- |
10/10 |
3 |
17-7573897-T-C |
c.1100+30A>G |
- |
IntronicSNV |
- |
10/10 |
3 |
17-7573897-T-A |
c.1100+30A>T |
- |
IntronicSNV |
- |
10/10 |
4 |
17-7573920-C-T |
c.1100+7G>A |
- |
IntronicSNV |
- |
10/10 |
1 |
17-7573927-CT-GA |
c.1099_1100delinsTC |
p.Ser367Ser |
Missense |
10/11 |
- |
2 |
17-7573927-CT-GC |
c.1099_1100delinsGC |
p.Ser367Ala |
Missense |
10/11 |
- |
5 |
17-7573927-C-T |
c.1100G>A |
p.Ser367Asn |
Missense |
10/11 |
- |
1 |
17-7573929-GGA-GAG |
c.1096_1097delinsCT |
p.Ser366Leu |
Missense |
10/11 |
- |
1 |
17-7573929-G-A |
c.1098C>T |
p.Ser366Ser |
Synonymous |
10/11 |
- |
1 |
17-7573930-G-A |
c.1097C>T |
p.Ser366Phe |
Missense |
10/11 |
- |
1 |
17-7573931-A-G |
c.1096T>C |
p.Ser366Pro |
Missense |
10/11 |
- |
2 |
17-7573931-A-C |
c.1096T>G |
p.Ser366Ala |
Missense |
10/11 |
- |
16 |
17-7573931-A-T |
c.1096T>A |
p.Ser366Thr |
Missense |
10/11 |
- |
1 |
17-7573934-G-A |
c.1093C>T |
p.His365Tyr |
Missense |
10/11 |
- |
3 |
17-7573935-A-T |
c.1092T>A |
p.Ala364Ala |
Synonymous |
10/11 |
- |
4 |
17-7573935-A-C |
c.1092T>G |
p.Ala364Ala |
Synonymous |
10/11 |
- |
4 |
17-7573935-A-G |
c.1092T>C |
p.Ala364Ala |
Synonymous |
10/11 |
- |
4 |
17-7573936-G-T |
c.1091C>A |
p.Ala364Asp |
Missense |
10/11 |
- |
1 |
17-7573937-C-A |
c.1090G>T |
p.Ala364Ser |
Missense |
10/11 |
- |
1 |
17-7573939-C-T |
c.1088G>A |
p.Arg363Lys |
Missense |
10/11 |
- |
1 |
17-7573939-CT-GC |
c.1087_1088delinsGC |
p.Arg363Ala |
Missense |
10/11 |
- |
1 |
17-7573942-C-T |
c.1085G>A |
p.Ser362Asn |
Missense |
10/11 |
- |
1 |
17-7573942-CT-GA |
c.1084_1085delinsTC |
p.Ser362Ser |
Missense |
10/11 |
- |
1 |
17-7573942-CT-GC |
c.1084_1085delinsGC |
p.Ser362Ala |
Missense |
10/11 |
- |
1 |
17-7573943-T-A |
c.1084A>T |
p.Ser362Cys |
Missense |
10/11 |
- |
1 |
17-7573945-C-T |
c.1082G>A |
p.Gly361Glu |
Missense |
10/11 |
- |
2 |
17-7573946-C-T |
c.1081G>A |
p.Gly361Arg |
Missense |
10/11 |
- |
2 |
17-7573948-C-G |
c.1079G>C |
p.Gly360Ala |
Missense |
10/11 |
- |
11 |
17-7573948-C-A |
c.1079G>T |
p.Gly360Val |
Missense |
10/11 |
- |
3 |
17-7573949-C-T |
c.1078G>A |
p.Gly360Arg |
Missense |
10/11 |
- |
1 |
17-7573949-C-G |
c.1078G>C |
p.Gly360Arg |
Missense |
10/11 |
- |
1 |
17-7573951-G-A |
c.1076C>T |
p.Pro359Leu |
Missense |
10/11 |
- |
1 |
17-7573952-G-A |
c.1075C>T |
p.Pro359Ser |
Missense |
10/11 |
- |
2 |
17-7573952-G-C |
c.1075C>G |
p.Pro359Ala |
Missense |
10/11 |
- |
1 |
17-7573953-C-G |
c.1074G>C |
p.Glu358Asp |
Missense |
10/11 |
- |
1 |
17-7573953-C-A |
c.1074G>T |
p.Glu358Asp |
Missense |
10/11 |
- |
1 |
17-7573954-T-A |
c.1073A>T |
p.Glu358Val |
Missense |
10/11 |
- |
2 |
17-7573955-C-T |
c.1072G>A |
p.Glu358Lys |
Missense |
10/11 |
- |
2 |
17-7573957-T-C |
c.1070A>G |
p.Lys357Arg |
Missense |
10/11 |
- |
3 |
17-7573958-T-G |
c.1069A>C |
p.Lys357Gln |
Missense |
10/11 |
- |
1 |
17-7573959-C-T |
c.1068G>A |
p.Gly356Gly |
Synonymous |
10/11 |
- |
1 |
17-7573960-C-G |
c.1067G>C |
p.Gly356Ala |
Missense |
10/11 |
- |
1 |
17-7573961-C-A |
c.1066G>T |
p.Gly356Trp |
Missense |
10/11 |
- |
1 |
17-7573961-C-T |
c.1066G>A |
p.Gly356Arg |
Missense |
10/11 |
- |
1 |
17-7573961-C-G |
c.1066G>C |
p.Gly356Arg |
Missense |
10/11 |
- |
1 |
17-7573962-AGC-AAG |
c.1063_1064delinsCT |
p.Ala355Leu |
Missense |
10/11 |
- |
1 |
17-7573964-C-T |
c.1063G>A |
p.Ala355Thr |
Missense |
10/11 |
- |
1 |
17-7573964-C-G |
c.1063G>C |
p.Ala355Pro |
Missense |
10/11 |
- |
1 |
17-7573966-T-C |
c.1061A>G |
p.Gln354Arg |
Missense |
10/11 |
- |
1 |
17-7573967-G-C |
c.1060C>G |
p.Gln354Glu |
Missense |
10/11 |
- |
1 |
17-7573967-G-T |
c.1060C>A |
p.Gln354Lys |
Missense |
10/11 |
- |
1 |
17-7573970-C-T |
c.1057G>A |
p.Ala353Thr |
Missense |
10/11 |
- |
1 |
17-7573972-T-G |
c.1055A>C |
p.Asp352Ala |
Missense |
10/11 |
- |
1 |
17-7573973-C-A |
c.1054G>T |
p.Asp352Tyr |
Missense |
10/11 |
- |
1 |
17-7573973-C-T |
c.1054G>A |
p.Asp352Asn |
Missense |
10/11 |
- |
1 |
17-7573974-C-G |
c.1053G>C |
p.Lys351Asn |
Missense |
10/11 |
- |
8 |
17-7573974-C-A |
c.1053G>T |
p.Lys351Asn |
Missense |
10/11 |
- |
8 |
17-7573975-TT-GC |
c.1051_1052delinsGC |
p.Lys351Ala |
Missense |
10/11 |
- |
1 |
17-7573975-T-C |
c.1052A>G |
p.Lys351Arg |
Missense |
10/11 |
- |
3 |
17-7573976-T-A |
c.1051A>T |
p.Lys351* |
Nonsense |
10/11 |
- |
1 |
17-7573976-T-G |
c.1051A>C |
p.Lys351Gln |
Missense |
10/11 |
- |
1 |
17-7573976-T-C |
c.1051A>G |
p.Lys351Glu |
Missense |
10/11 |
- |
3 |
17-7573978-A-G |
c.1049T>C |
p.Leu350Pro |
Missense |
10/11 |
- |
3 |
17-7573978-AG-GC |
c.1048_1049delinsGC |
p.Leu350Ala |
Missense |
10/11 |
- |
4 |
17-7573980-T-G |
c.1047A>C |
p.Glu349Asp |
Missense |
10/11 |
- |
1 |
17-7573980-T-A |
c.1047A>T |
p.Glu349Asp |
Missense |
10/11 |
- |
1 |
17-7573982-C-T |
c.1045G>A |
p.Glu349Lys |
Missense |
10/11 |
- |
2 |
17-7573982-C-A |
c.1045G>T |
p.Glu349* |
Nonsense |
10/11 |
- |
7 |
17-7573983-C-A |
c.1044G>T |
p.Leu348Phe |
Missense |
10/11 |
- |
1 |
17-7573983-C-G |
c.1044G>C |
p.Leu348Phe |
Missense |
10/11 |
- |
1 |
17-7573984-A-G |
c.1043T>C |
p.Leu348Ser |
Missense |
10/11 |
- |
2 |
17-7573984-AA-GA |
c.1043delinsC |
p.Leu348Ser |
Missense |
10/11 |
- |
1 |
17-7573984-AA-GC |
c.1042_1043delinsGC |
p.Leu348Ala |
Missense |
10/11 |
- |
12 |
17-7573987-G-T |
c.1040C>A |
p.Ala347Asp |
Missense |
10/11 |
- |
3 |
17-7573987-G-A |
c.1040C>T |
p.Ala347Val |
Missense |
10/11 |
- |
3 |
17-7573987-GGCCTCATTCAGCTCTCGGAACATCTCGAAGCGCTCACGCCCACGGATCTGCAGCAACAG-G |
c.994-10_1042del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
10/11 |
9/10 |
1 |
17-7573988-C-T |
c.1039G>A |
p.Ala347Thr |
Missense |
10/11 |
- |
5 |
17-7573988-C-G |
c.1039G>C |
p.Ala347Pro |
Missense |
10/11 |
- |
2 |
17-7573989-C-T |
c.1038G>A |
p.Glu346Glu |
Synonymous |
10/11 |
- |
1 |
17-7573990-T-C |
c.1037A>G |
p.Glu346Gly |
Missense |
10/11 |
- |
2 |
17-7573990-T-G |
c.1037A>C |
p.Glu346Ala |
Missense |
10/11 |
- |
1 |
17-7573991-C-T |
c.1036G>A |
p.Glu346Lys |
Missense |
10/11 |
- |
2 |
17-7573991-C-A |
c.1036G>T |
p.Glu346* |
Nonsense |
10/11 |
- |
5 |
17-7573992-A-T |
c.1035T>A |
p.Asn345Lys |
Missense |
10/11 |
- |
2 |
17-7573992-A-C |
c.1035T>G |
p.Asn345Lys |
Missense |
10/11 |
- |
2 |
17-7573993-T-C |
c.1034A>G |
p.Asn345Ser |
Missense |
10/11 |
- |
3 |
17-7573994-T-C |
c.1033A>G |
p.Asn345Asp |
Missense |
10/11 |
- |
2 |
17-7573995-CAG-TAT |
c.1030_1032delinsATA |
p.Leu344Ile |
Missense |
10/11 |
- |
1 |
17-7573996-A-C |
c.1031T>G |
p.Leu344Arg |
Missense |
10/11 |
- |
5 |
17-7573996-AG-GC |
c.1030_1031delinsGC |
p.Leu344Ala |
Missense |
10/11 |
- |
23 |
17-7573996-AG-GA |
c.1030_1031delinsTC |
p.Leu344Ser |
Missense |
10/11 |
- |
1 |
17-7573996-A-T |
c.1031T>A |
p.Leu344Gln |
Missense |
10/11 |
- |
3 |
17-7573996-A-G |
c.1031T>C |
p.Leu344Pro |
Missense |
10/11 |
- |
41 |
17-7573999-T-G |
c.1028A>C |
p.Glu343Ala |
Missense |
10/11 |
- |
3 |
17-7573999-T-C |
c.1028A>G |
p.Glu343Gly |
Missense |
10/11 |
- |
1 |
17-7574000-C-T |
c.1027G>A |
p.Glu343Lys |
Missense |
10/11 |
- |
3 |
17-7574000-C-A |
c.1027G>T |
p.Glu343* |
Nonsense |
10/11 |
- |
5 |
17-7574001-TC-AT |
c.1025_1026delinsAT |
p.Arg342His |
Missense |
10/11 |
- |
1 |
17-7574002-C-G |
c.1025G>C |
p.Arg342Pro |
Missense |
10/11 |
- |
14 |
17-7574002-CG-GC |
c.1024_1025delinsGC |
p.Arg342Ala |
Missense |
10/11 |
- |
1 |
17-7574002-CG-GA |
c.1024_1025delinsTC |
p.Arg342Ser |
Missense |
10/11 |
- |
1 |
17-7574002-C-T |
c.1025G>A |
p.Arg342Gln |
Missense |
10/11 |
- |
2 |
17-7574003-CGGAAC-C |
c.1021_1025del |
p.Phe341Argfs*4 |
Frameshift |
10/11 |
- |
1 |
17-7574003-G-A |
c.1024C>T |
p.Arg342* |
Nonsense |
10/11 |
- |
74 |
17-7574003-G-C |
c.1024C>G |
p.Arg342Gly |
Missense |
10/11 |
- |
2 |
17-7574004-G-A |
c.1023C>T |
p.Phe341Phe |
Synonymous |
10/11 |
- |
1 |
17-7574004-GG-G |
c.1024del |
p.Arg342Glufs*3 |
Frameshift |
10/11 |
- |
4 |
17-7574004-GAA-AAG |
c.1021_1023delinsCTT |
p.Phe341Leu |
Missense |
10/11 |
- |
1 |
17-7574005-A-C |
c.1022T>G |
p.Phe341Cys |
Missense |
10/11 |
- |
3 |
17-7574005-A-T |
c.1022T>A |
p.Phe341Tyr |
Missense |
10/11 |
- |
1 |
17-7574005-AA-GC |
c.1021_1022delinsGC |
p.Phe341Ala |
Missense |
10/11 |
- |
1 |
17-7574006-AACATCTCGAAGCGCTCA-A |
c.1006_1022del |
p.Glu336Profs*5 |
Frameshift |
10/11 |
- |
1 |
17-7574004-G-T |
c.1023C>A |
p.Phe341Leu |
Missense |
10/11 |
- |
2 |
17-7574006-A-G |
c.1021T>C |
p.Phe341Leu |
Missense |
10/11 |
- |
2 |
17-7574006-A-C |
c.1021T>G |
p.Phe341Val |
Missense |
10/11 |
- |
3 |
17-7574006-A-T |
c.1021T>A |
p.Phe341Ile |
Missense |
10/11 |
- |
3 |
17-7574004-G-C |
c.1023C>G |
p.Phe341Leu |
Missense |
10/11 |
- |
2 |
17-7574006-A-AA |
c.1022dup |
p.Arg342Profs*5 |
Frameshift |
10/11 |
- |
1 |
17-7574008-AT-GC |
c.1018_1019delinsGC |
p.Met340Ala |
Missense |
10/11 |
- |
1 |
17-7574008-AT-GA |
c.1018_1019delinsTC |
p.Met340Ser |
Missense |
10/11 |
- |
2 |
17-7574008-A-G |
c.1019T>C |
p.Met340Thr |
Missense |
10/11 |
- |
1 |
17-7574008-A-T |
c.1019T>A |
p.Met340Lys |
Missense |
10/11 |
- |
1 |
17-7574008-AT-CA |
c.1018_1019delinsTG |
p.Met340Trp |
Missense |
10/11 |
- |
5 |
17-7574009-ATCT-A |
c.1016_1018del |
p.Glu339_Met340delinsVal |
MultiAAMissense |
10/11 |
- |
1 |
17-7574009-T-C |
c.1018A>G |
p.Met340Val |
Missense |
10/11 |
- |
2 |
17-7574010-C-G |
c.1017G>C |
p.Glu339Asp |
Missense |
10/11 |
- |
2 |
17-7574010-C-A |
c.1017G>T |
p.Glu339Asp |
Missense |
10/11 |
- |
2 |
17-7574011-T-A |
c.1016A>T |
p.Glu339Val |
Missense |
10/11 |
- |
1 |
17-7574012-C-G |
c.1015G>C |
p.Glu339Gln |
Missense |
10/11 |
- |
2 |
17-7574012-C-A |
c.1015G>T |
p.Glu339* |
Nonsense |
10/11 |
- |
6 |
17-7574012-C-T |
c.1015G>A |
p.Glu339Lys |
Missense |
10/11 |
- |
12 |
17-7574013-G-A |
c.1014C>T |
p.Phe338Phe |
Synonymous |
10/11 |
- |
1 |
17-7574013-CG-C |
c.1014del |
p.Phe338Leufs*7 |
Frameshift |
10/11 |
- |
1 |
17-7574014-A-C |
c.1013T>G |
p.Phe338Cys |
Missense |
10/11 |
- |
1 |
17-7574014-AA-GG |
c.1012_1013delinsCC |
p.Phe338Pro |
Missense |
10/11 |
- |
1 |
17-7574015-A-G |
c.1012T>C |
p.Phe338Leu |
Missense |
10/11 |
- |
2 |
17-7574015-A-T |
c.1012T>A |
p.Phe338Ile |
Missense |
10/11 |
- |
2 |
17-7574016-AGCGCTCACGCCC-A |
c.1000_1011del |
p.Gly334_Arg337del |
InFrameDeletion |
10/11 |
- |
1 |
17-7574017-C-A |
c.1010G>T |
p.Arg337Leu |
Missense |
10/11 |
- |
23 |
17-7574017-C-G |
c.1010G>C |
p.Arg337Pro |
Missense |
10/11 |
- |
8 |
17-7574017-CG-GC |
c.1009_1010delinsGC |
p.Arg337Ala |
Missense |
10/11 |
- |
4 |
17-7574017-CG-AC |
c.1009_1010delinsGT |
p.Arg337Val |
Missense |
10/11 |
- |
1 |
17-7574017-C-T |
c.1010G>A |
p.Arg337His |
Missense |
10/11 |
- |
212 |
17-7574018-G-C |
c.1009C>G |
p.Arg337Gly |
Missense |
10/11 |
- |
3 |
17-7574018-G-A |
c.1009C>T |
p.Arg337Cys |
Missense |
10/11 |
- |
68 |
17-7574018-G-T |
c.1009C>A |
p.Arg337Ser |
Missense |
10/11 |
- |
1 |
17-7574019-C-T |
c.1008G>A |
p.Glu336Glu |
Synonymous |
10/11 |
- |
1 |
17-7574021-C-A |
c.1006G>T |
p.Glu336* |
Nonsense |
10/11 |
- |
9 |
17-7574021-C-T |
c.1006G>A |
p.Glu336Lys |
Missense |
10/11 |
- |
3 |
17-7574021-C-G |
c.1006G>C |
p.Glu336Gln |
Missense |
10/11 |
- |
1 |
17-7574022-ACG-GAG |
c.1004_1005delinsTC |
p.Arg335Leu |
Missense |
10/11 |
- |
1 |
17-7574022-ACG-TGG |
c.1004_1005delinsCA |
p.Arg335Pro |
Missense |
10/11 |
- |
1 |
17-7574022-AC-AA |
c.1004delinsT |
p.Arg335Leu |
Missense |
10/11 |
- |
1 |
17-7574022-A-AA |
c.1005dup |
p.Glu336* |
Nonsense |
10/11 |
- |
1 |
17-7574023-C-T |
c.1004G>A |
p.Arg335His |
Missense |
10/11 |
- |
1 |
17-7574023-C-A |
c.1004G>T |
p.Arg335Leu |
Missense |
10/11 |
- |
1 |
17-7574026-C-A |
c.1001G>T |
p.Gly334Val |
Missense |
10/11 |
- |
14 |
17-7574026-C-G |
c.1001G>C |
p.Gly334Ala |
Missense |
10/11 |
- |
1 |
17-7574026-C-T |
c.1001G>A |
p.Gly334Glu |
Missense |
10/11 |
- |
1 |
17-7574027-C-G |
c.1000G>C |
p.Gly334Arg |
Missense |
10/11 |
- |
7 |
17-7574027-C-A |
c.1000G>T |
p.Gly334Trp |
Missense |
10/11 |
- |
3 |
17-7574028-A-G |
c.999T>C |
p.Arg333Arg |
Synonymous |
10/11 |
- |
1 |
17-7574028-ACG-TGA |
c.997_999delinsTCA |
p.Arg333Ser |
Nonsense |
10/11 |
- |
1 |
17-7574028-A-T |
c.999T>A |
p.Arg333Arg |
Synonymous |
10/11 |
- |
1 |
17-7574028-A-C |
c.999T>G |
p.Arg333Arg |
Synonymous |
10/11 |
- |
1 |
17-7574029-C-T |
c.998G>A |
p.Arg333His |
Missense |
10/11 |
- |
1 |
17-7574029-CG-GC |
c.997_998delinsGC |
p.Arg333Ala |
Missense |
10/11 |
- |
1 |
17-7574030-G-A |
c.997C>T |
p.Arg333Cys |
Missense |
10/11 |
- |
5 |
17-7574030-G-C |
c.997C>G |
p.Arg333Gly |
Missense |
10/11 |
- |
2 |
17-7574030-G-GTTTA |
c.996_997insTAAA |
p.Arg333* |
Nonsense |
10/11 |
- |
1 |
17-7574031-GA-AG |
c.995_996delinsCT |
p.Ile332Thr |
Missense |
10/11 |
- |
1 |
17-7574031-GAT-CAA |
c.994_996delinsTTG |
p.Ile332Leu |
Missense |
10/11 |
- |
1 |
17-7574031-GAT-GAG |
c.994delinsC |
p.Ile332Leu |
Missense |
10/11 |
- |
4 |
17-7574031-GA-GG |
c.995delinsC |
p.Ile332Thr |
Missense |
10/11 |
- |
1 |
17-7574031-G-GG |
c.997dup |
p.Arg333Profs*4 |
Frameshift |
10/11 |
- |
3 |
17-7574031-G-C |
c.996C>G |
p.Ile332Met |
Missense |
10/11 |
- |
2 |
17-7574031-GAT-TGG |
c.994_996delinsCCA |
p.Ile332Pro |
Missense |
10/11 |
- |
1 |
17-7574032-AT-CC |
c.994_995delinsGG |
p.Ile332Gly |
Missense |
10/11 |
- |
1 |
17-7574032-AT-TA |
c.994_995delinsTA |
p.Ile332Tyr |
Missense |
10/11 |
- |
1 |
17-7574032-AT-CA |
c.994_995delinsTG |
p.Ile332Cys |
Missense |
10/11 |
- |
1 |
17-7574032-AT-GC |
c.994_995delinsGC |
p.Ile332Ala |
Missense |
10/11 |
- |
3 |
17-7574032-AT-GG |
c.994_995delinsCC |
p.Ile332Pro |
Missense |
10/11 |
- |
1 |
17-7574032-GAT-G |
c.994_995del |
p.Ile332Profs*4 |
SpliceAcceptorDeletion |
10/11 |
- |
1 |
17-7574032-AT-TG |
c.994_995delinsCA |
p.Ile332His |
Missense |
10/11 |
- |
1 |
17-7574032-A-C |
c.995T>G |
p.Ile332Ser |
Missense |
10/11 |
- |
1 |
17-7574032-A-G |
c.995T>C |
p.Ile332Thr |
Missense |
10/11 |
- |
1 |
17-7574032-A-T |
c.995T>A |
p.Ile332Asn |
Missense |
10/11 |
- |
1 |
17-7574032-AT-GA |
c.994_995delinsTC |
p.Ile332Ser |
Missense |
10/11 |
- |
1 |
17-7574033-T-C |
c.994A>G |
p.Ile332Val |
Missense |
10/11 |
- |
3 |
17-7574033-T-G |
c.994A>C |
p.Ile332Leu |
Missense |
10/11 |
- |
1 |
17-7574033-T-A |
c.994A>T |
p.Ile332Phe |
Missense |
10/11 |
- |
2 |
17-7574034-C-G |
c.994-1G>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7574034-C-T |
c.994-1G>A |
- |
IntronicSNV |
- |
9/10 |
4 |
17-7574035-T-C |
c.994-2A>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7574131-AA-A |
c.994-95del |
- |
IntronicDeletion |
- |
9/10 |
1 |
17-7574721-C-T |
c.994-688G>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7574775-C-T |
c.994-742G>A |
- |
IntronicSNV |
- |
9/10 |
4 |
17-7574779-C-T |
c.994-746G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7574864-C-T |
c.994-831G>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7574936-C-T |
c.994-903G>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7575733-A-G |
c.993+1120T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576348-C-T |
c.993+505G>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576422-G-A |
c.993+431C>T |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576501-G-A |
c.993+352C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576525-CAATATTTTCAACTTAC-C |
c.993+326_993+341del |
- |
IntronicDeletion |
- |
9/10 |
1 |
17-7576525-A-C |
c.993+328T>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576533-C-T |
c.993+320G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576539-A-G |
c.993+314T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576540-C-T |
c.993+313G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576541-G-C |
c.993+312C>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576541-G-A |
c.993+312C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576542-A-G |
c.993+311T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576542-A-C |
c.993+311T>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576543-C-A |
c.993+310G>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576543-C-T |
c.993+310G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576544-G-A |
c.993+309C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576546-G-A |
c.993+307C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576546-G-C |
c.993+307C>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576554-G-A |
c.993+299C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576558-G-A |
c.993+295C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576563-A-G |
c.993+290T>C |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576563-A-T |
c.993+290T>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576566-A-G |
c.993+287T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576568-C-G |
c.993+285G>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576568-C-T |
c.993+285G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576568-TCGTAA-T |
c.993+281_993+285del |
- |
IntronicDeletion |
- |
9/10 |
1 |
17-7576569-G-A |
c.993+284C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576570-T-G |
c.993+283A>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576572-A-C |
c.993+281T>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576591-C-T |
c.993+262G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576601-C-T |
c.993+252G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576607-A-T |
c.993+246T>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576609-C-A |
c.993+244G>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576619-C-T |
c.993+234G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576625-T-C |
c.993+228A>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576626-T-C |
c.993+227A>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576626-T-G |
c.993+227A>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576630-A-C |
c.993+223T>G |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576630-A-T |
c.993+223T>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576630-A-G |
c.993+223T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576633-T-C |
c.993+220A>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576636-C-G |
c.993+217G>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576637-T-G |
c.993+216A>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576654-G-C |
c.993+199C>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576655-G-A |
c.993+198C>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576659-T-C |
c.993+194A>G |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576825-C-T |
c.993+28G>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576841-A-G |
c.993+12T>C |
- |
IntronicSNV |
- |
9/10 |
6 |
17-7576851-A-T |
c.993+2T>A |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576851-A-G |
c.993+2T>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576852-C-G |
c.993+1G>C |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576852-C-T |
c.993+1G>A |
- |
IntronicSNV |
- |
9/10 |
2 |
17-7576852-C-A |
c.993+1G>T |
- |
IntronicSNV |
- |
9/10 |
1 |
17-7576853-CTG-TTT |
c.991_993delinsAAA |
p.Gln331Lys |
Missense |
9/11 |
- |
1 |
17-7576853-CTG-TAT |
c.991_993delinsATA |
p.Gln331Ile |
Missense |
9/11 |
- |
1 |
17-7576853-C-A |
c.993G>T |
p.Gln331His |
Missense |
9/11 |
- |
4 |
17-7576853-C-G |
c.993G>C |
p.Gln331His |
Missense |
9/11 |
- |
4 |
17-7576853-C-T |
c.993G>A |
p.Gln331Gln |
Synonymous |
9/11 |
- |
3 |
17-7576853-CTG-GAC |
c.991_993delinsGTC |
p.Gln331Val |
Missense |
9/11 |
- |
1 |
17-7576853-CTG-ATC |
c.991_993delinsGAT |
p.Gln331Asp |
Missense |
9/11 |
- |
1 |
17-7576853-CTG-TGT |
c.991_993delinsACA |
p.Gln331Thr |
Missense |
9/11 |
- |
1 |
17-7576853-CTG-AAC |
c.991_993delinsGTT |
p.Gln331Val |
Missense |
9/11 |
- |
2 |
17-7576854-TG-GG |
c.992delinsC |
p.Gln331Pro |
Missense |
9/11 |
- |
1 |
17-7576854-TG-TC |
c.991delinsG |
p.Gln331Glu |
Missense |
9/11 |
- |
1 |
17-7576854-TG-AT |
c.991_992delinsAT |
p.Gln331Met |
Missense |
9/11 |
- |
1 |
17-7576854-TG-AC |
c.991_992delinsGT |
p.Gln331Val |
Missense |
9/11 |
- |
1 |
17-7576854-T-C |
c.992A>G |
p.Gln331Arg |
Missense |
9/11 |
- |
14 |
17-7576854-T-G |
c.992A>C |
p.Gln331Pro |
Missense |
9/11 |
- |
2 |
17-7576854-TG-GT |
c.991_992delinsAC |
p.Gln331Thr |
Missense |
9/11 |
- |
1 |
17-7576854-TG-GC |
c.991_992delinsGC |
p.Gln331Ala |
Missense |
9/11 |
- |
3 |
17-7576854-T-A |
c.992A>T |
p.Gln331Leu |
Missense |
9/11 |
- |
1 |
17-7576855-G-A |
c.991C>T |
p.Gln331* |
Nonsense |
9/11 |
- |
23 |
17-7576855-G-C |
c.991C>G |
p.Gln331Glu |
Missense |
9/11 |
- |
1 |
17-7576855-G-T |
c.991C>A |
p.Gln331Lys |
Missense |
9/11 |
- |
1 |
17-7576855-G-GG |
c.991dup |
p.Gln331Profs*6 |
SpliceDonorInsertion |
9/11 |
- |
1 |
17-7576856-AAG-TGG |
c.989_990delinsCA |
p.Leu330Pro |
Missense |
9/11 |
- |
1 |
17-7576856-AAG-GAG |
c.990delinsC |
p.Leu330Leu |
Missense |
9/11 |
- |
2 |
17-7576857-AG-GG |
c.989delinsC |
p.Leu330Pro |
Missense |
9/11 |
- |
1 |
17-7576857-AG-GA |
c.988_989delinsTC |
p.Leu330Ser |
Missense |
9/11 |
- |
1 |
17-7576857-AG-GC |
c.988_989delinsGC |
p.Leu330Ala |
Missense |
9/11 |
- |
4 |
17-7576857-AG-AC |
c.988delinsG |
p.Leu330Val |
Missense |
9/11 |
- |
1 |
17-7576857-AG-AA |
c.988delinsT |
p.Leu330Phe |
Missense |
9/11 |
- |
1 |
17-7576857-A-C |
c.989T>G |
p.Leu330Arg |
Missense |
9/11 |
- |
3 |
17-7576857-A-G |
c.989T>C |
p.Leu330Pro |
Missense |
9/11 |
- |
5 |
17-7576857-A-T |
c.989T>A |
p.Leu330His |
Missense |
9/11 |
- |
7 |
17-7576857-AG-TA |
c.988_989delinsTA |
p.Leu330Tyr |
Missense |
9/11 |
- |
1 |
17-7576858-G-A |
c.988C>T |
p.Leu330Phe |
Missense |
9/11 |
- |
1 |
17-7576858-G-C |
c.988C>G |
p.Leu330Val |
Missense |
9/11 |
- |
1 |
17-7576858-G-T |
c.988C>A |
p.Leu330Ile |
Missense |
9/11 |
- |
1 |
17-7576860-G-A |
c.986C>T |
p.Thr329Ile |
Missense |
9/11 |
- |
4 |
17-7576860-G-C |
c.986C>G |
p.Thr329Ser |
Missense |
9/11 |
- |
1 |
17-7576861-T-A |
c.985A>T |
p.Thr329Ser |
Missense |
9/11 |
- |
1 |
17-7576861-T-C |
c.985A>G |
p.Thr329Ala |
Missense |
9/11 |
- |
2 |
17-7576864-A-C |
c.982T>G |
p.Phe328Val |
Missense |
9/11 |
- |
1 |
17-7576865-A-T |
c.981T>A |
p.Tyr327* |
Nonsense |
9/11 |
- |
2 |
17-7576866-T-G |
c.980A>C |
p.Tyr327Ser |
Missense |
9/11 |
- |
1 |
17-7576866-TA-GC |
c.979_980delinsGC |
p.Tyr327Ala |
Missense |
9/11 |
- |
2 |
17-7576866-T-A |
c.980A>T |
p.Tyr327Phe |
Missense |
9/11 |
- |
1 |
17-7576867-A-C |
c.979T>G |
p.Tyr327Asp |
Missense |
9/11 |
- |
1 |
17-7576867-A-G |
c.979T>C |
p.Tyr327His |
Missense |
9/11 |
- |
1 |
17-7576869-T-G |
c.977A>C |
p.Glu326Ala |
Missense |
9/11 |
- |
1 |
17-7576869-T-C |
c.977A>G |
p.Glu326Gly |
Missense |
9/11 |
- |
2 |
17-7576869-T-A |
c.977A>T |
p.Glu326Val |
Missense |
9/11 |
- |
1 |
17-7576870-C-A |
c.976G>T |
p.Glu326* |
Nonsense |
9/11 |
- |
1 |
17-7576870-TCTCCATCCAGTGGTTTCTTCTTT-T |
c.956_978del |
p.Lys319Ilefs*10 |
Frameshift |
9/11 |
- |
1 |
17-7576872-C-A |
c.974G>T |
p.Gly325Val |
Missense |
9/11 |
- |
4 |
17-7576873-C-A |
c.973G>T |
p.Gly325* |
Nonsense |
9/11 |
- |
4 |
17-7576873-C-G |
c.973G>C |
p.Gly325Arg |
Missense |
9/11 |
- |
2 |
17-7576873-C-T |
c.973G>A |
p.Gly325Arg |
Missense |
9/11 |
- |
2 |
17-7576875-T-G |
c.971A>C |
p.Asp324Ala |
Missense |
9/11 |
- |
1 |
17-7576876-C-G |
c.970G>C |
p.Asp324His |
Missense |
9/11 |
- |
2 |
17-7576878-AG-GC |
c.967_968delinsGC |
p.Leu323Ala |
Missense |
9/11 |
- |
2 |
17-7576881-GG-AA |
c.964_965delinsTT |
p.Pro322Leu |
Missense |
9/11 |
- |
1 |
17-7576882-G-A |
c.964C>T |
p.Pro322Ser |
Missense |
9/11 |
- |
2 |
17-7576884-T-C |
c.962A>G |
p.Lys321Arg |
Missense |
9/11 |
- |
2 |
17-7576884-TT-GC |
c.961_962delinsGC |
p.Lys321Ala |
Missense |
9/11 |
- |
5 |
17-7576885-T-G |
c.961A>C |
p.Lys321Gln |
Missense |
9/11 |
- |
1 |
17-7576886-C-G |
c.960G>C |
p.Lys320Asn |
Missense |
9/11 |
- |
4 |
17-7576886-C-T |
c.960G>A |
p.Lys320Lys |
Synonymous |
9/11 |
- |
1 |
17-7576886-TCT-T |
c.960_961del |
p.Lys321Thrfs*15 |
Frameshift |
9/11 |
- |
1 |
17-7576887-T-G |
c.959A>C |
p.Lys320Thr |
Missense |
9/11 |
- |
1 |
17-7576887-T-C |
c.959A>G |
p.Lys320Arg |
Missense |
9/11 |
- |
17 |
17-7576887-TT-GC |
c.958_959delinsGC |
p.Lys320Ala |
Missense |
9/11 |
- |
4 |
17-7576888-T-G |
c.958A>C |
p.Lys320Gln |
Missense |
9/11 |
- |
14 |
17-7576888-T-A |
c.958A>T |
p.Lys320* |
Nonsense |
9/11 |
- |
1 |
17-7576889-C-CC |
c.957dup |
p.Lys320Glufs*17 |
Frameshift |
9/11 |
- |
1 |
17-7576890-T-G |
c.956A>C |
p.Lys319Thr |
Missense |
9/11 |
- |
1 |
17-7576890-T-C |
c.956A>G |
p.Lys319Arg |
Missense |
9/11 |
- |
1 |
17-7576890-TT-GC |
c.955_956delinsGC |
p.Lys319Ala |
Missense |
9/11 |
- |
7 |
17-7576891-TTTGGCTGGGGAGAG-T |
c.942_955del |
p.Ser315Glufs*17 |
Frameshift |
9/11 |
- |
1 |
17-7576891-T-C |
c.955A>G |
p.Lys319Glu |
Missense |
9/11 |
- |
1 |
17-7576895-C-G |
c.951G>C |
p.Gln317His |
Missense |
9/11 |
- |
1 |
17-7576895-C-A |
c.951G>T |
p.Gln317His |
Missense |
9/11 |
- |
1 |
17-7576896-T-C |
c.950A>G |
p.Gln317Arg |
Missense |
9/11 |
- |
3 |
17-7576897-G-A |
c.949C>T |
p.Gln317* |
Nonsense |
9/11 |
- |
14 |
17-7576899-G-A |
c.947C>T |
p.Pro316Leu |
Missense |
9/11 |
- |
1 |
17-7576900-GG-G |
c.949del |
p.Gln317Serfs*28 |
Frameshift |
9/11 |
- |
1 |
17-7576900-G-GG |
c.949dup |
p.Gln317Profs*20 |
Frameshift |
9/11 |
- |
2 |
17-7576901-A-G |
c.945T>C |
p.Ser315Ser |
Synonymous |
9/11 |
- |
3 |
17-7576901-A-C |
c.945T>G |
p.Ser315Ser |
Synonymous |
9/11 |
- |
3 |
17-7576901-A-T |
c.945T>A |
p.Ser315Ser |
Synonymous |
9/11 |
- |
3 |
17-7576902-G-A |
c.944C>T |
p.Ser315Phe |
Missense |
9/11 |
- |
2 |
17-7576903-A-G |
c.943T>C |
p.Ser315Pro |
Missense |
9/11 |
- |
1 |
17-7576903-A-C |
c.943T>G |
p.Ser315Ala |
Missense |
9/11 |
- |
23 |
17-7576905-G-A |
c.941C>T |
p.Ser314Phe |
Missense |
9/11 |
- |
1 |
17-7576906-A-C |
c.940T>G |
p.Ser314Ala |
Missense |
9/11 |
- |
1 |
17-7576906-A-G |
c.940T>C |
p.Ser314Pro |
Missense |
9/11 |
- |
1 |
17-7576908-C-G |
c.938G>C |
p.Ser313Thr |
Missense |
9/11 |
- |
1 |
17-7576908-CT-CC |
c.937delinsG |
p.Ser313Gly |
Missense |
9/11 |
- |
1 |
17-7576908-CT-GC |
c.937_938delinsGC |
p.Ser313Ala |
Missense |
9/11 |
- |
1 |
17-7576909-T-C |
c.937A>G |
p.Ser313Gly |
Missense |
9/11 |
- |
1 |
17-7576911-GT-TA |
c.934_935delinsTA |
p.Thr312Tyr |
Missense |
9/11 |
- |
1 |
17-7576911-G-C |
c.935C>G |
p.Thr312Ser |
Missense |
9/11 |
- |
5 |
17-7576911-G-A |
c.935C>T |
p.Thr312Ile |
Missense |
9/11 |
- |
4 |
17-7576912-T-C |
c.934A>G |
p.Thr312Ala |
Missense |
9/11 |
- |
3 |
17-7576913-G-A |
c.933C>T |
p.Asn311Asn |
Synonymous |
9/11 |
- |
1 |
17-7576913-GTT-CAA |
c.931_933delinsTTG |
p.Asn311Leu |
Missense |
9/11 |
- |
1 |
17-7576914-T-C |
c.932A>G |
p.Asn311Ser |
Missense |
9/11 |
- |
3 |
17-7576914-TT-GG |
c.931_932delinsCC |
p.Asn311Pro |
Missense |
9/11 |
- |
2 |
17-7576914-TT-GC |
c.931_932delinsGC |
p.Asn311Ala |
Missense |
9/11 |
- |
2 |
17-7576917-TT-TG |
c.928delinsC |
p.Asn310His |
Missense |
9/11 |
- |
1 |
17-7576918-T-TT |
c.929dup |
p.Asn310Lysfs*27 |
Frameshift |
9/11 |
- |
1 |
17-7576918-T-C |
c.928A>G |
p.Asn310Asp |
Missense |
9/11 |
- |
1 |
17-7576920-G-A |
c.926C>T |
p.Pro309Leu |
Missense |
9/11 |
- |
1 |
17-7576921-G-A |
c.925C>T |
p.Pro309Ser |
Missense |
9/11 |
- |
55 |
17-7576921-G-C |
c.925C>G |
p.Pro309Ala |
Missense |
9/11 |
- |
1 |
17-7576923-A-G |
c.923T>C |
p.Leu308Pro |
Missense |
9/11 |
- |
1 |
17-7576924-G-A |
c.922C>T |
p.Leu308Leu |
Synonymous |
9/11 |
- |
2 |
17-7576924-G-C |
c.922C>G |
p.Leu308Val |
Missense |
9/11 |
- |
1 |
17-7576925-TG-AC |
c.920_921delinsGT |
p.Ala307Gly |
Missense |
9/11 |
- |
1 |
17-7576926-G-A |
c.920C>T |
p.Ala307Val |
Missense |
9/11 |
- |
1 |
17-7576927-C-A |
c.920-1G>T |
- |
IntronicSNV |
- |
8/10 |
1 |
17-7576927-C-G |
c.920-1G>C |
- |
IntronicSNV |
- |
8/10 |
1 |
17-7576927-C-T |
c.920-1G>A |
- |
IntronicSNV |
- |
8/10 |
3 |
17-7576928-T-C |
c.920-2A>G |
- |
IntronicSNV |
- |
8/10 |
5 |
17-7576928-T-A |
c.920-2A>T |
- |
IntronicSNV |
- |
8/10 |
1 |
17-7576928-CT-C |
c.920-2del |
- |
IntronicDeletion |
- |
8/10 |
2 |
17-7577001-C-T |
c.919+18G>A |
- |
IntronicSNV |
- |
8/10 |
1 |
17-7577018-C-A |
c.919+1G>T |
- |
IntronicSNV |
- |
8/10 |
6 |
17-7577018-C-T |
c.919+1G>A |
- |
IntronicSNV |
- |
8/10 |
6 |
17-7577019-C-T |
c.919G>A |
p.Ala307Thr |
Missense |
8/11 |
- |
1 |
17-7577019-C-A |
c.919G>T |
p.Ala307Ser |
Missense |
8/11 |
- |
1 |
17-7577020-TCG-TGT |
c.916_917delinsAC |
p.Arg306Thr |
Missense |
8/11 |
- |
3 |
17-7577020-TC-AT |
c.917_918delinsAT |
p.Arg306His |
Missense |
8/11 |
- |
2 |
17-7577021-CG-AC |
c.916_917delinsGT |
p.Arg306Val |
Missense |
8/11 |
- |
1 |
17-7577021-CG-GC |
c.916_917delinsGC |
p.Arg306Ala |
Missense |
8/11 |
- |
5 |
17-7577021-C-G |
c.917G>C |
p.Arg306Pro |
Missense |
8/11 |
- |
1 |
17-7577021-CG-AA |
c.916_917delinsTT |
p.Arg306Leu |
Missense |
8/11 |
- |
1 |
17-7577021-C-T |
c.917G>A |
p.Arg306Gln |
Missense |
8/11 |
- |
3 |
17-7577022-G-C |
c.916C>G |
p.Arg306Gly |
Missense |
8/11 |
- |
1 |
17-7577022-G-T |
c.916C>A |
p.Arg306Arg |
Synonymous |
8/11 |
- |
2 |
17-7577022-G-A |
c.916C>T |
p.Arg306* |
Nonsense |
8/11 |
- |
106 |
17-7577023-C-G |
c.915G>C |
p.Lys305Asn |
Missense |
8/11 |
- |
1 |
17-7577023-C-A |
c.915G>T |
p.Lys305Asn |
Missense |
8/11 |
- |
1 |
17-7577024-TT-GC |
c.913_914delinsGC |
p.Lys305Ala |
Missense |
8/11 |
- |
6 |
17-7577024-T-C |
c.914A>G |
p.Lys305Arg |
Missense |
8/11 |
- |
3 |
17-7577025-T-G |
c.913A>C |
p.Lys305Gln |
Missense |
8/11 |
- |
1 |
17-7577025-T-A |
c.913A>T |
p.Lys305* |
Nonsense |
8/11 |
- |
7 |
17-7577026-A-AT |
c.911_912insA |
p.Lys305* |
Nonsense |
8/11 |
- |
1 |
17-7577027-GT-TG |
c.910_911delinsCA |
p.Thr304His |
Missense |
8/11 |
- |
1 |
17-7577027-G-A |
c.911C>T |
p.Thr304Ile |
Missense |
8/11 |
- |
3 |
17-7577028-T-C |
c.910A>G |
p.Thr304Ala |
Missense |
8/11 |
- |
1 |
17-7577029-GCT-GAG |
c.907_908delinsCT |
p.Ser303Leu |
Missense |
8/11 |
- |
1 |
17-7577030-C-A |
c.908G>T |
p.Ser303Ile |
Missense |
8/11 |
- |
1 |
17-7577030-C-T |
c.908G>A |
p.Ser303Asn |
Missense |
8/11 |
- |
1 |
17-7577030-CT-GC |
c.907_908delinsGC |
p.Ser303Ala |
Missense |
8/11 |
- |
1 |
17-7577032-C-G |
c.906G>C |
p.Gly302Gly |
Synonymous |
8/11 |
- |
1 |
17-7577032-C-T |
c.906G>A |
p.Gly302Gly |
Synonymous |
8/11 |
- |
1 |
17-7577032-CCC-TGT |
c.904_906delinsACA |
p.Gly302Thr |
Missense |
8/11 |
- |
1 |
17-7577032-C-A |
c.906G>T |
p.Gly302Gly |
Synonymous |
8/11 |
- |
1 |
17-7577033-C-T |
c.905G>A |
p.Gly302Glu |
Missense |
8/11 |
- |
3 |
17-7577033-CC-AC |
c.905delinsT |
p.Gly302Val |
Missense |
8/11 |
- |
1 |
17-7577034-C-G |
c.904G>C |
p.Gly302Arg |
Missense |
8/11 |
- |
1 |
17-7577034-C-T |
c.904G>A |
p.Gly302Arg |
Missense |
8/11 |
- |
1 |
17-7577035-T-C |
c.903A>G |
p.Pro301Pro |
Synonymous |
8/11 |
- |
1 |
17-7577035-TGG-TGT |
c.901delinsA |
p.Pro301Thr |
Missense |
8/11 |
- |
1 |
17-7577036-G-T |
c.902C>A |
p.Pro301Gln |
Missense |
8/11 |
- |
1 |
17-7577036-G-C |
c.902C>G |
p.Pro301Arg |
Missense |
8/11 |
- |
2 |
17-7577036-G-A |
c.902C>T |
p.Pro301Leu |
Missense |
8/11 |
- |
7 |
17-7577037-G-A |
c.901C>T |
p.Pro301Ser |
Missense |
8/11 |
- |
3 |
17-7577038-G-A |
c.900C>T |
p.Pro300Pro |
Synonymous |
8/11 |
- |
2 |
17-7577038-G-C |
c.900C>G |
p.Pro300Pro |
Synonymous |
8/11 |
- |
2 |
17-7577038-G-T |
c.900C>A |
p.Pro300Pro |
Synonymous |
8/11 |
- |
2 |
17-7577039-G-A |
c.899C>T |
p.Pro300Leu |
Missense |
8/11 |
- |
2 |
17-7577040-G-A |
c.898C>T |
p.Pro300Ser |
Missense |
8/11 |
- |
3 |
17-7577040-G-C |
c.898C>G |
p.Pro300Ala |
Missense |
8/11 |
- |
1 |
17-7577044-C-G |
c.894G>C |
p.Glu298Asp |
Missense |
8/11 |
- |
7 |
17-7577044-C-A |
c.894G>T |
p.Glu298Asp |
Missense |
8/11 |
- |
7 |
17-7577046-C-T |
c.892G>A |
p.Glu298Lys |
Missense |
8/11 |
- |
3 |
17-7577046-C-G |
c.892G>C |
p.Glu298Gln |
Missense |
8/11 |
- |
2 |
17-7577046-C-A |
c.892G>T |
p.Glu298* |
Nonsense |
8/11 |
- |
29 |
17-7577047-G-A |
c.891C>T |
p.His297His |
Synonymous |
8/11 |
- |
1 |
17-7577048-TG-GG |
c.890delinsC |
p.His297Pro |
Missense |
8/11 |
- |
1 |
17-7577048-TG-GC |
c.889_890delinsGC |
p.His297Ala |
Missense |
8/11 |
- |
6 |
17-7577049-G-A |
c.889C>T |
p.His297Tyr |
Missense |
8/11 |
- |
5 |
17-7577049-G-T |
c.889C>A |
p.His297Asn |
Missense |
8/11 |
- |
1 |
17-7577050-G-A |
c.888C>T |
p.His296His |
Synonymous |
8/11 |
- |
1 |
17-7577051-T-C |
c.887A>G |
p.His296Arg |
Missense |
8/11 |
- |
1 |
17-7577053-A-G |
c.885T>C |
p.Pro295Pro |
Synonymous |
8/11 |
- |
2 |
17-7577054-G-A |
c.884C>T |
p.Pro295Leu |
Missense |
8/11 |
- |
2 |
17-7577054-G-T |
c.884C>A |
p.Pro295His |
Missense |
8/11 |
- |
2 |
17-7577055-G-A |
c.883C>T |
p.Pro295Ser |
Missense |
8/11 |
- |
1 |
17-7577056-C-T |
c.882G>A |
p.Glu294Glu |
Synonymous |
8/11 |
- |
1 |
17-7577056-C-G |
c.882G>C |
p.Glu294Asp |
Missense |
8/11 |
- |
2 |
17-7577058-C-T |
c.880G>A |
p.Glu294Lys |
Missense |
8/11 |
- |
3 |
17-7577058-C-A |
c.880G>T |
p.Glu294* |
Nonsense |
8/11 |
- |
14 |
17-7577059-CCCCTTTC-C |
c.875_881del |
p.Lys292Serfs*51 |
Frameshift |
8/11 |
- |
1 |
17-7577060-C-T |
c.878G>A |
p.Gly293Glu |
Missense |
8/11 |
- |
3 |
17-7577061-C-CC |
c.880dup |
p.Glu294Glyfs*12 |
Frameshift |
8/11 |
- |
2 |
17-7577061-C-T |
c.877G>A |
p.Gly293Arg |
Missense |
8/11 |
- |
4 |
17-7577061-C-A |
c.877G>T |
p.Gly293Trp |
Missense |
8/11 |
- |
3 |
17-7577061-CCT-C |
c.876_877del |
p.Glu294Alafs*11 |
Frameshift |
8/11 |
- |
1 |
17-7577062-TTT-TGT |
c.875delinsC |
p.Lys292Thr |
Missense |
8/11 |
- |
4 |
17-7577063-TT-GC |
c.874_875delinsGC |
p.Lys292Ala |
Missense |
8/11 |
- |
1 |
17-7577063-T-C |
c.875A>G |
p.Lys292Arg |
Missense |
8/11 |
- |
6 |
17-7577063-T-A |
c.875A>T |
p.Lys292Ile |
Missense |
8/11 |
- |
3 |
17-7577064-T-C |
c.874A>G |
p.Lys292Glu |
Missense |
8/11 |
- |
1 |
17-7577065-C-T |
c.873G>A |
p.Lys291Lys |
Synonymous |
8/11 |
- |
1 |
17-7577065-C-G |
c.873G>C |
p.Lys291Asn |
Missense |
8/11 |
- |
1 |
17-7577065-C-A |
c.873G>T |
p.Lys291Asn |
Missense |
8/11 |
- |
1 |
17-7577065-CTT-CAT |
c.872delinsT |
p.Lys291Met |
Missense |
8/11 |
- |
1 |
17-7577065-CTT-TGT |
c.872_873delinsCA |
p.Lys291Thr |
Missense |
8/11 |
- |
1 |
17-7577066-T-C |
c.872A>G |
p.Lys291Arg |
Missense |
8/11 |
- |
3 |
17-7577067-T-C |
c.871A>G |
p.Lys291Glu |
Missense |
8/11 |
- |
2 |
17-7577067-T-A |
c.871A>T |
p.Lys291* |
Nonsense |
8/11 |
- |
6 |
17-7577068-GCG-GAG |
c.869delinsT |
p.Arg290Leu |
Missense |
8/11 |
- |
2 |
17-7577069-C-T |
c.869G>A |
p.Arg290His |
Missense |
8/11 |
- |
18 |
17-7577069-C-A |
c.869G>T |
p.Arg290Leu |
Missense |
8/11 |
- |
2 |
17-7577069-C-G |
c.869G>C |
p.Arg290Pro |
Missense |
8/11 |
- |
2 |
17-7577070-G-A |
c.868C>T |
p.Arg290Cys |
Missense |
8/11 |
- |
11 |
17-7577072-AG-GC |
c.865_866delinsGC |
p.Leu289Ala |
Missense |
8/11 |
- |
4 |
17-7577073-G-A |
c.865C>T |
p.Leu289Phe |
Missense |
8/11 |
- |
2 |
17-7577074-A-C |
c.864T>G |
p.Asn288Lys |
Missense |
8/11 |
- |
2 |
17-7577074-A-T |
c.864T>A |
p.Asn288Lys |
Missense |
8/11 |
- |
2 |
17-7577075-T-A |
c.863A>T |
p.Asn288Ile |
Missense |
8/11 |
- |
1 |
17-7577076-T-A |
c.862A>T |
p.Asn288Tyr |
Missense |
8/11 |
- |
2 |
17-7577076-T-C |
c.862A>G |
p.Asn288Asp |
Missense |
8/11 |
- |
2 |
17-7577076-TTCTCTTCCTCTGTGCGCCGGTCTCTCC-T |
c.836_862del |
p.Gly279_Asn288delinsAsp |
MultiAAMissense |
8/11 |
- |
1 |
17-7577077-C-G |
c.861G>C |
p.Glu287Asp |
Missense |
8/11 |
- |
1 |
17-7577077-C-A |
c.861G>T |
p.Glu287Asp |
Missense |
8/11 |
- |
1 |
17-7577077-C-T |
c.861G>A |
p.Glu287Glu |
Synonymous |
8/11 |
- |
1 |
17-7577078-T-G |
c.860A>C |
p.Glu287Ala |
Missense |
8/11 |
- |
1 |
17-7577078-CTCTTCCTCTGTGCGCCGGTCTCTCCC-C |
c.836_861del |
p.Gly279Glufs*18 |
Frameshift |
8/11 |
- |
1 |
17-7577079-C-T |
c.859G>A |
p.Glu287Lys |
Missense |
8/11 |
- |
4 |
17-7577079-C-A |
c.859G>T |
p.Glu287* |
Nonsense |
8/11 |
- |
4 |
17-7577079-C-G |
c.859G>C |
p.Glu287Gln |
Missense |
8/11 |
- |
1 |
17-7577080-T-C |
c.858A>G |
p.Glu286Glu |
Synonymous |
8/11 |
- |
1 |
17-7577080-T-A |
c.858A>T |
p.Glu286Asp |
Missense |
8/11 |
- |
2 |
17-7577080-T-G |
c.858A>C |
p.Glu286Asp |
Missense |
8/11 |
- |
2 |
17-7577081-TTC-T |
c.856_857del |
p.Glu286Argfs*19 |
Frameshift |
8/11 |
- |
1 |
17-7577081-T-C |
c.857A>G |
p.Glu286Gly |
Missense |
8/11 |
- |
8 |
17-7577081-T-A |
c.857A>T |
p.Glu286Val |
Missense |
8/11 |
- |
4 |
17-7577081-T-G |
c.857A>C |
p.Glu286Ala |
Missense |
8/11 |
- |
3 |
17-7577082-C-T |
c.856G>A |
p.Glu286Lys |
Missense |
8/11 |
- |
42 |
17-7577082-C-G |
c.856G>C |
p.Glu286Gln |
Missense |
8/11 |
- |
2 |
17-7577082-C-A |
c.856G>T |
p.Glu286* |
Nonsense |
8/11 |
- |
2 |
17-7577083-C-G |
c.855G>C |
p.Glu285Asp |
Missense |
8/11 |
- |
1 |
17-7577083-C-A |
c.855G>T |
p.Glu285Asp |
Missense |
8/11 |
- |
1 |
17-7577084-TC-CT |
c.853_854delinsAG |
p.Glu285Arg |
Missense |
8/11 |
- |
2 |
17-7577084-T-G |
c.854A>C |
p.Glu285Ala |
Missense |
8/11 |
- |
3 |
17-7577084-T-A |
c.854A>T |
p.Glu285Val |
Missense |
8/11 |
- |
11 |
17-7577085-C-T |
c.853G>A |
p.Glu285Lys |
Missense |
8/11 |
- |
109 |
17-7577085-C-A |
c.853G>T |
p.Glu285* |
Nonsense |
8/11 |
- |
6 |
17-7577085-C-G |
c.853G>C |
p.Glu285Gln |
Missense |
8/11 |
- |
4 |
17-7577087-G-C |
c.851C>G |
p.Thr284Arg |
Missense |
8/11 |
- |
6 |
17-7577088-T-TCCT |
c.850_851insGGA |
p.Arg283dup |
InFrameInsertion |
8/11 |
- |
1 |
17-7577088-T-C |
c.850A>G |
p.Thr284Ala |
Missense |
8/11 |
- |
2 |
17-7577088-T-A |
c.850A>T |
p.Thr284Ser |
Missense |
8/11 |
- |
3 |
17-7577088-T-G |
c.850A>C |
p.Thr284Pro |
Missense |
8/11 |
- |
4 |
17-7577089-GC-AA |
c.848_849delinsTT |
p.Arg283Leu |
Missense |
8/11 |
- |
2 |
17-7577089-G-GG |
c.849dup |
p.Thr284Hisfs*22 |
Frameshift |
8/11 |
- |
1 |
17-7577090-CG-GC |
c.847_848delinsGC |
p.Arg283Ala |
Missense |
8/11 |
- |
1 |
17-7577090-C-A |
c.848G>T |
p.Arg283Leu |
Missense |
8/11 |
- |
1 |
17-7577090-C-T |
c.848G>A |
p.Arg283His |
Missense |
8/11 |
- |
19 |
17-7577090-C-G |
c.848G>C |
p.Arg283Pro |
Missense |
8/11 |
- |
13 |
17-7577091-G-T |
c.847C>A |
p.Arg283Ser |
Missense |
8/11 |
- |
1 |
17-7577091-G-C |
c.847C>G |
p.Arg283Gly |
Missense |
8/11 |
- |
1 |
17-7577091-G-A |
c.847C>T |
p.Arg283Cys |
Missense |
8/11 |
- |
34 |
17-7577092-CCG-ATC |
c.844_846delinsGAT |
p.Arg282Asp |
Missense |
8/11 |
- |
1 |
17-7577092-CC-AT |
c.845_846delinsAT |
p.Arg282His |
Missense |
8/11 |
- |
8 |
17-7577092-GCCG-G |
c.846_848del |
p.Arg283del |
InFrameDeletion |
8/11 |
- |
2 |
17-7577093-CG-AT |
c.844_845delinsAT |
p.Arg282Met |
Missense |
8/11 |
- |
1 |
17-7577093-C-A |
c.845G>T |
p.Arg282Leu |
Missense |
8/11 |
- |
4 |
17-7577093-CC-C |
c.846del |
p.Arg283Alafs*62 |
Frameshift |
8/11 |
- |
1 |
17-7577093-CG-GA |
c.844_845delinsTC |
p.Arg282Ser |
Missense |
8/11 |
- |
1 |
17-7577093-CG-GC |
c.844_845delinsGC |
p.Arg282Ala |
Missense |
8/11 |
- |
4 |
17-7577093-C-T |
c.845G>A |
p.Arg282Gln |
Missense |
8/11 |
- |
29 |
17-7577093-C-G |
c.845G>C |
p.Arg282Pro |
Missense |
8/11 |
- |
9 |
17-7577092-C-T |
c.846G>A |
p.Arg282Arg |
Synonymous |
8/11 |
- |
1 |
17-7577092-C-G |
c.846G>C |
p.Arg282Arg |
Synonymous |
8/11 |
- |
1 |
17-7577094-G-C |
c.844C>G |
p.Arg282Gly |
Missense |
8/11 |
- |
18 |
17-7577092-C-A |
c.846G>T |
p.Arg282Arg |
Synonymous |
8/11 |
- |
1 |
17-7577094-G-A |
c.844C>T |
p.Arg282Trp |
Missense |
8/11 |
- |
320 |
17-7577094-G-T |
c.844C>A |
p.Arg282Arg |
Synonymous |
8/11 |
- |
1 |
17-7577095-G-T |
c.843C>A |
p.Asp281Glu |
Missense |
8/11 |
- |
17 |
17-7577095-G-C |
c.843C>G |
p.Asp281Glu |
Missense |
8/11 |
- |
15 |
17-7577096-GTCTCTCCCAGGACA-G |
c.829_842del |
p.Cys277Profs*24 |
Frameshift |
8/11 |
- |
1 |
17-7577096-T-C |
c.842A>G |
p.Asp281Gly |
Missense |
8/11 |
- |
53 |
17-7577096-T-A |
c.842A>T |
p.Asp281Val |
Missense |
8/11 |
- |
7 |
17-7577096-T-G |
c.842A>C |
p.Asp281Ala |
Missense |
8/11 |
- |
2 |
17-7577097-C-T |
c.841G>A |
p.Asp281Asn |
Missense |
8/11 |
- |
20 |
17-7577097-C-G |
c.841G>C |
p.Asp281His |
Missense |
8/11 |
- |
17 |
17-7577097-C-A |
c.841G>T |
p.Asp281Tyr |
Missense |
8/11 |
- |
13 |
17-7577097-TCTCTCCCAGGACAGGCACAAACACGC-T |
c.816_841del |
p.Arg273Profs*24 |
Frameshift |
8/11 |
- |
1 |
17-7577098-TCT-TGG |
c.838_839delinsCC |
p.Arg280Pro |
Missense |
8/11 |
- |
2 |
17-7577098-TCT-GAC |
c.838_840delinsGTC |
p.Arg280Val |
Missense |
8/11 |
- |
1 |
17-7577098-T-C |
c.840A>G |
p.Arg280Arg |
Synonymous |
8/11 |
- |
1 |
17-7577100-T-G |
c.838A>C |
p.Arg280Arg |
Synonymous |
8/11 |
- |
1 |
17-7577098-T-A |
c.840A>T |
p.Arg280Ser |
Missense |
8/11 |
- |
22 |
17-7577098-CTCTC-C |
c.839_842del |
p.Arg280Thrfs*64 |
Frameshift |
8/11 |
- |
1 |
17-7577098-T-TTT |
c.840_841insAA |
p.Asp281Lysfs*65 |
Frameshift |
8/11 |
- |
1 |
17-7577098-CTCTCCCAGGACAGGC-C |
c.827_841del |
p.Ala276_Arg280del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577098-TCT-CAT |
c.839_840delinsTG |
p.Arg280Met |
Missense |
8/11 |
- |
11 |
17-7577099-C-T |
c.839G>A |
p.Arg280Lys |
Missense |
8/11 |
- |
275 |
17-7577099-CT-GC |
c.838_839delinsGC |
p.Arg280Ala |
Missense |
8/11 |
- |
2 |
17-7577099-C-A |
c.839G>T |
p.Arg280Ile |
Missense |
8/11 |
- |
13 |
17-7577099-C-G |
c.839G>C |
p.Arg280Thr |
Missense |
8/11 |
- |
57 |
17-7577100-T-C |
c.838A>G |
p.Arg280Gly |
Missense |
8/11 |
- |
17 |
17-7577100-T-A |
c.838A>T |
p.Arg280* |
Nonsense |
8/11 |
- |
3 |
17-7577100-T-TA |
c.837_838insT |
p.Arg280* |
Nonsense |
8/11 |
- |
2 |
17-7577101-TCCC-T |
c.835_837del |
p.Gly279del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577102-C-G |
c.836G>C |
p.Gly279Ala |
Missense |
8/11 |
- |
1 |
17-7577102-C-A |
c.836G>T |
p.Gly279Val |
Missense |
8/11 |
- |
1 |
17-7577102-C-T |
c.836G>A |
p.Gly279Glu |
Missense |
8/11 |
- |
25 |
17-7577103-C-T |
c.835G>A |
p.Gly279Arg |
Missense |
8/11 |
- |
6 |
17-7577103-C-A |
c.835G>T |
p.Gly279Trp |
Missense |
8/11 |
- |
1 |
17-7577104-A-AA |
c.834dup |
p.Gly279Trpfs*27 |
Frameshift |
8/11 |
- |
2 |
17-7577105-G-T |
c.833C>A |
p.Pro278His |
Missense |
8/11 |
- |
7 |
17-7577105-G-A |
c.833C>T |
p.Pro278Leu |
Missense |
8/11 |
- |
23 |
17-7577105-G-C |
c.833C>G |
p.Pro278Arg |
Missense |
8/11 |
- |
18 |
17-7577105-GG-TT |
c.832_833delinsAA |
p.Pro278Asn |
Missense |
8/11 |
- |
1 |
17-7577106-G-C |
c.832C>G |
p.Pro278Ala |
Missense |
8/11 |
- |
24 |
17-7577106-G-T |
c.832C>A |
p.Pro278Thr |
Missense |
8/11 |
- |
7 |
17-7577106-G-A |
c.832C>T |
p.Pro278Ser |
Missense |
8/11 |
- |
51 |
17-7577107-GACAGG-G |
c.831_835del |
p.Cys277Trpfs*27 |
Frameshift |
8/11 |
- |
1 |
17-7577107-A-C |
c.831T>G |
p.Cys277Trp |
Missense |
8/11 |
- |
3 |
17-7577107-A-T |
c.831T>A |
p.Cys277* |
Nonsense |
8/11 |
- |
3 |
17-7577108-CA-GC |
c.829_830delinsGC |
p.Cys277Ala |
Missense |
8/11 |
- |
5 |
17-7577108-C-A |
c.830G>T |
p.Cys277Phe |
Missense |
8/11 |
- |
46 |
17-7577108-C-T |
c.830G>A |
p.Cys277Tyr |
Missense |
8/11 |
- |
13 |
17-7577108-CA-GT |
c.829_830delinsAC |
p.Cys277Thr |
Missense |
8/11 |
- |
1 |
17-7577108-ACAGGC-A |
c.826_830del |
p.Ala276Serfs*28 |
Frameshift |
8/11 |
- |
1 |
17-7577108-C-G |
c.830G>C |
p.Cys277Ser |
Missense |
8/11 |
- |
17 |
17-7577109-A-C |
c.829T>G |
p.Cys277Gly |
Missense |
8/11 |
- |
3 |
17-7577109-A-G |
c.829T>C |
p.Cys277Arg |
Missense |
8/11 |
- |
2 |
17-7577109-A-T |
c.829T>A |
p.Cys277Ser |
Missense |
8/11 |
- |
17 |
17-7577110-GGC-CAA |
c.826_828delinsTTG |
p.Ala276Leu |
Missense |
8/11 |
- |
1 |
17-7577111-GC-CG |
c.826_827delinsCG |
p.Ala276Arg |
Missense |
8/11 |
- |
2 |
17-7577111-GC-CT |
c.826_827delinsAG |
p.Ala276Ser |
Missense |
8/11 |
- |
1 |
17-7577111-GC-TT |
c.826_827delinsAA |
p.Ala276Asn |
Missense |
8/11 |
- |
1 |
17-7577111-G-T |
c.827C>A |
p.Ala276Asp |
Missense |
8/11 |
- |
10 |
17-7577111-G-C |
c.827C>G |
p.Ala276Gly |
Missense |
8/11 |
- |
4 |
17-7577111-G-A |
c.827C>T |
p.Ala276Val |
Missense |
8/11 |
- |
2 |
17-7577111-GC-AA |
c.826_827delinsTT |
p.Ala276Phe |
Missense |
8/11 |
- |
1 |
17-7577111-GC-AT |
c.826_827delinsAT |
p.Ala276Ile |
Missense |
8/11 |
- |
1 |
17-7577112-C-G |
c.826G>C |
p.Ala276Pro |
Missense |
8/11 |
- |
7 |
17-7577112-C-A |
c.826G>T |
p.Ala276Ser |
Missense |
8/11 |
- |
2 |
17-7577112-C-T |
c.826G>A |
p.Ala276Thr |
Missense |
8/11 |
- |
2 |
17-7577113-A-C |
c.825T>G |
p.Cys275Trp |
Missense |
8/11 |
- |
7 |
17-7577113-A-T |
c.825T>A |
p.Cys275* |
Nonsense |
8/11 |
- |
2 |
17-7577114-C-T |
c.824G>A |
p.Cys275Tyr |
Missense |
8/11 |
- |
41 |
17-7577114-CA-GC |
c.823_824delinsGC |
p.Cys275Ala |
Missense |
8/11 |
- |
6 |
17-7577114-C-A |
c.824G>T |
p.Cys275Phe |
Missense |
8/11 |
- |
27 |
17-7577115-A-T |
c.823T>A |
p.Cys275Ser |
Missense |
8/11 |
- |
13 |
17-7577115-A-G |
c.823T>C |
p.Cys275Arg |
Missense |
8/11 |
- |
6 |
17-7577115-A-C |
c.823T>G |
p.Cys275Gly |
Missense |
8/11 |
- |
8 |
17-7577114-C-G |
c.824G>C |
p.Cys275Ser |
Missense |
8/11 |
- |
13 |
17-7577116-A-G |
c.822T>C |
p.Val274Val |
Synonymous |
8/11 |
- |
1 |
17-7577116-A-T |
c.822T>A |
p.Val274Val |
Synonymous |
8/11 |
- |
1 |
17-7577116-A-C |
c.822T>G |
p.Val274Val |
Synonymous |
8/11 |
- |
1 |
17-7577117-A-G |
c.821T>C |
p.Val274Ala |
Missense |
8/11 |
- |
7 |
17-7577117-A-C |
c.821T>G |
p.Val274Gly |
Missense |
8/11 |
- |
3 |
17-7577117-A-T |
c.821T>A |
p.Val274Asp |
Missense |
8/11 |
- |
4 |
17-7577117-ACACG-GGGTC |
c.817_821delinsGACCC |
p.Arg273_Val274delinsAspPro |
MultiAAMissense |
8/11 |
- |
1 |
17-7577117-A-AA |
c.823dup |
p.Cys275Leufs*31 |
Frameshift |
8/11 |
- |
2 |
17-7577117-AC-TG |
c.820_821delinsCA |
p.Val274His |
Missense |
8/11 |
- |
1 |
17-7577118-C-G |
c.820G>C |
p.Val274Leu |
Missense |
8/11 |
- |
6 |
17-7577118-C-A |
c.820G>T |
p.Val274Phe |
Missense |
8/11 |
- |
51 |
17-7577118-C-T |
c.820G>A |
p.Val274Ile |
Missense |
8/11 |
- |
1 |
17-7577119-A-C |
c.819T>G |
p.Arg273Arg |
Synonymous |
8/11 |
- |
1 |
17-7577119-A-AA |
c.819dup |
p.Val274Cysfs*32 |
Frameshift |
8/11 |
- |
4 |
17-7577119-A-G |
c.819T>C |
p.Arg273Arg |
Synonymous |
8/11 |
- |
1 |
17-7577119-A-T |
c.819T>A |
p.Arg273Arg |
Synonymous |
8/11 |
- |
1 |
17-7577119-A-AGGACCTGCA |
c.820_821insCAGGTCCTG |
p.Arg273_Val274insAlaGlyPro |
InFrameInsertion |
8/11 |
- |
1 |
17-7577120-CG-AA |
c.817_818delinsTT |
p.Arg273Phe |
Missense |
8/11 |
- |
1 |
17-7577120-ACGCACCTCA-A |
c.812_820del |
p.Glu271_Arg273del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577120-ACGCACCTCAA-A |
c.810_819del |
p.Phe270Leufs*72 |
Frameshift |
8/11 |
- |
1 |
17-7577120-C-T |
c.818G>A |
p.Arg273His |
Missense |
8/11 |
- |
1266 |
17-7577120-C-A |
c.818G>T |
p.Arg273Leu |
Missense |
8/11 |
- |
113 |
17-7577120-C-G |
c.818G>C |
p.Arg273Pro |
Missense |
8/11 |
- |
24 |
17-7577120-CG-TA |
c.817_818delinsTA |
p.Arg273Tyr |
Missense |
8/11 |
- |
3 |
17-7577120-CG-GC |
c.817_818delinsGC |
p.Arg273Ala |
Missense |
8/11 |
- |
2 |
17-7577121-G-C |
c.817C>G |
p.Arg273Gly |
Missense |
8/11 |
- |
14 |
17-7577121-G-A |
c.817C>T |
p.Arg273Cys |
Missense |
8/11 |
- |
445 |
17-7577121-G-T |
c.817C>A |
p.Arg273Ser |
Missense |
8/11 |
- |
29 |
17-7577122-CAC-TGT |
c.814_816delinsACA |
p.Val272Thr |
Missense |
8/11 |
- |
1 |
17-7577122-C-A |
c.816G>T |
p.Val272Val |
Synonymous |
8/11 |
- |
2 |
17-7577122-C-G |
c.816G>C |
p.Val272Val |
Synonymous |
8/11 |
- |
2 |
17-7577122-C-T |
c.816G>A |
p.Val272Val |
Synonymous |
8/11 |
- |
2 |
17-7577123-A-T |
c.815T>A |
p.Val272Glu |
Missense |
8/11 |
- |
3 |
17-7577123-A-C |
c.815T>G |
p.Val272Gly |
Missense |
8/11 |
- |
2 |
17-7577123-A-G |
c.815T>C |
p.Val272Ala |
Missense |
8/11 |
- |
4 |
17-7577124-C-G |
c.814G>C |
p.Val272Leu |
Missense |
8/11 |
- |
23 |
17-7577124-C-A |
c.814G>T |
p.Val272Leu |
Missense |
8/11 |
- |
24 |
17-7577124-C-T |
c.814G>A |
p.Val272Met |
Missense |
8/11 |
- |
44 |
17-7577125-CTC-AAC |
c.812_813delinsTT |
p.Glu271Val |
Missense |
8/11 |
- |
1 |
17-7577126-T-C |
c.812A>G |
p.Glu271Gly |
Missense |
8/11 |
- |
2 |
17-7577126-T-A |
c.812A>T |
p.Glu271Val |
Missense |
8/11 |
- |
4 |
17-7577126-T-G |
c.812A>C |
p.Glu271Ala |
Missense |
8/11 |
- |
1 |
17-7577127-C-A |
c.811G>T |
p.Glu271* |
Nonsense |
8/11 |
- |
3 |
17-7577127-C-G |
c.811G>C |
p.Glu271Gln |
Missense |
8/11 |
- |
2 |
17-7577127-C-T |
c.811G>A |
p.Glu271Lys |
Missense |
8/11 |
- |
19 |
17-7577128-CAAAGCTGTTCCGTCC-C |
c.797_811del |
p.Gly266_Phe270del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577128-CAAAGCT-C |
c.805_810del |
p.Ser269_Phe270del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577129-A-C |
c.809T>G |
p.Phe270Cys |
Missense |
8/11 |
- |
5 |
17-7577129-AA-GC |
c.808_809delinsGC |
p.Phe270Ala |
Missense |
8/11 |
- |
4 |
17-7577129-A-G |
c.809T>C |
p.Phe270Ser |
Missense |
8/11 |
- |
7 |
17-7577129-A-T |
c.809T>A |
p.Phe270Tyr |
Missense |
8/11 |
- |
1 |
17-7577128-A-C |
c.810T>G |
p.Phe270Leu |
Missense |
8/11 |
- |
20 |
17-7577130-A-T |
c.808T>A |
p.Phe270Ile |
Missense |
8/11 |
- |
7 |
17-7577130-A-C |
c.808T>G |
p.Phe270Val |
Missense |
8/11 |
- |
2 |
17-7577128-A-T |
c.810T>A |
p.Phe270Leu |
Missense |
8/11 |
- |
20 |
17-7577131-G-C |
c.807C>G |
p.Ser269Arg |
Missense |
8/11 |
- |
1 |
17-7577133-T-G |
c.805A>C |
p.Ser269Arg |
Missense |
8/11 |
- |
1 |
17-7577131-G-T |
c.807C>A |
p.Ser269Arg |
Missense |
8/11 |
- |
1 |
17-7577131-GCT-GAG |
c.805_806delinsCT |
p.Ser269Leu |
Missense |
8/11 |
- |
2 |
17-7577132-GCTGTTCC-G |
c.800_806del |
p.Arg267Profs*76 |
Frameshift |
8/11 |
- |
1 |
17-7577132-CT-GC |
c.805_806delinsGC |
p.Ser269Ala |
Missense |
8/11 |
- |
3 |
17-7577132-CT-GA |
c.805_806delinsTC |
p.Ser269Ser |
Missense |
8/11 |
- |
2 |
17-7577132-C-T |
c.806G>A |
p.Ser269Asn |
Missense |
8/11 |
- |
2 |
17-7577132-C-A |
c.806G>T |
p.Ser269Ile |
Missense |
8/11 |
- |
3 |
17-7577134-GT-GG |
c.803delinsC |
p.Asn268Thr |
Missense |
8/11 |
- |
3 |
17-7577134-GTT-TAA |
c.802_804delinsTTA |
p.Asn268Leu |
Nonsense |
8/11 |
- |
1 |
17-7577134-G-A |
c.804C>T |
p.Asn268Asn |
Synonymous |
8/11 |
- |
1 |
17-7577135-T-A |
c.803A>T |
p.Asn268Ile |
Missense |
8/11 |
- |
1 |
17-7577135-T-C |
c.803A>G |
p.Asn268Ser |
Missense |
8/11 |
- |
2 |
17-7577136-T-C |
c.802A>G |
p.Asn268Asp |
Missense |
8/11 |
- |
25 |
17-7577136-TTC-T |
c.801_802del |
p.Asn268Glnfs*3 |
Frameshift |
8/11 |
- |
1 |
17-7577138-C-T |
c.800G>A |
p.Arg267Gln |
Missense |
8/11 |
- |
15 |
17-7577138-C-G |
c.800G>C |
p.Arg267Pro |
Missense |
8/11 |
- |
15 |
17-7577138-C-A |
c.800G>T |
p.Arg267Leu |
Missense |
8/11 |
- |
1 |
17-7577139-G-T |
c.799C>A |
p.Arg267Arg |
Synonymous |
8/11 |
- |
2 |
17-7577139-G-A |
c.799C>T |
p.Arg267Trp |
Missense |
8/11 |
- |
31 |
17-7577140-TCC-TGT |
c.796_797delinsAC |
p.Gly266Thr |
Missense |
8/11 |
- |
1 |
17-7577141-CC-CA |
c.796delinsT |
p.Gly266* |
Missense |
8/11 |
- |
3 |
17-7577141-C-T |
c.797G>A |
p.Gly266Glu |
Missense |
8/11 |
- |
52 |
17-7577141-C-A |
c.797G>T |
p.Gly266Val |
Missense |
8/11 |
- |
15 |
17-7577142-C-T |
c.796G>A |
p.Gly266Arg |
Missense |
8/11 |
- |
27 |
17-7577142-C-A |
c.796G>T |
p.Gly266* |
Nonsense |
8/11 |
- |
6 |
17-7577142-C-G |
c.796G>C |
p.Gly266Arg |
Missense |
8/11 |
- |
22 |
17-7577143-CC-C |
c.797del |
p.Gly266Aspfs*79 |
Frameshift |
8/11 |
- |
1 |
17-7577143-CAG-ATC |
c.793_795delinsGAT |
p.Leu265Asp |
Missense |
8/11 |
- |
1 |
17-7577144-A-C |
c.794T>G |
p.Leu265Arg |
Missense |
8/11 |
- |
1 |
17-7577144-A-G |
c.794T>C |
p.Leu265Pro |
Missense |
8/11 |
- |
22 |
17-7577144-AG-GC |
c.793_794delinsGC |
p.Leu265Ala |
Missense |
8/11 |
- |
1 |
17-7577146-GTAG-G |
c.792_794del |
p.Leu265del |
InFrameDeletion |
8/11 |
- |
1 |
17-7577146-GT-G |
c.792del |
p.Leu265Trpfs*80 |
Frameshift |
8/11 |
- |
1 |
17-7577147-AG-GC |
c.790_791delinsGC |
p.Leu264Ala |
Missense |
8/11 |
- |
1 |
17-7577147-A-C |
c.791T>G |
p.Leu264Arg |
Missense |
8/11 |
- |
2 |
17-7577148-AGA-A |
c.790_791del |
p.Leu264Thrfs*7 |
Frameshift |
8/11 |
- |
1 |
17-7577149-A-G |
c.789T>C |
p.Asn263Asn |
Synonymous |
8/11 |
- |
1 |
17-7577151-T-C |
c.787A>G |
p.Asn263Asp |
Missense |
8/11 |
- |
4 |
17-7577152-AC-AG |
c.785delinsC |
p.Gly262Ala |
Missense |
8/11 |
- |
1 |
17-7577153-C-T |
c.785G>A |
p.Gly262Asp |
Missense |
8/11 |
- |
2 |
17-7577153-C-A |
c.785G>T |
p.Gly262Val |
Missense |
8/11 |
- |
6 |
17-7577153-C-G |
c.785G>C |
p.Gly262Ala |
Missense |
8/11 |
- |
4 |
17-7577154-C-T |
c.784G>A |
p.Gly262Ser |
Missense |
8/11 |
- |
3 |
17-7577154-CCAC-C |
c.784_786del |
p.Gly262del |
InFrameDeletion |
8/11 |
7/10 |
1 |
17-7577156-C-T |
c.783-1G>A |
- |
IntronicSNV |
- |
7/10 |
3 |
17-7577156-C-A |
c.783-1G>T |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577157-T-C |
c.783-2A>G |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577407-A-C |
c.782+92T>G |
- |
IntronicSNV |
- |
7/10 |
41 |
17-7577420-G-A |
c.782+79C>T |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577427-G-A |
c.782+72C>T |
- |
IntronicSNV |
- |
7/10 |
20 |
17-7577440-A-C |
c.782+59T>G |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577482-G-A |
c.782+17C>T |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577497-A-C |
c.782+2T>G |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577498-C-G |
c.782+1G>C |
- |
IntronicSNV |
- |
7/10 |
1 |
17-7577498-C-A |
c.782+1G>T |
- |
IntronicSNV |
- |
7/10 |
6 |
17-7577498-C-T |
c.782+1G>A |
- |
IntronicSNV |
- |
7/10 |
3 |
17-7577499-C-G |
c.782G>C |
p.Ser261Thr |
Missense |
7/11 |
- |
2 |
17-7577499-C-T |
c.782G>A |
p.Ser261Asn |
Missense |
7/11 |
- |
3 |
17-7577499-CT-GC |
c.781_782delinsGC |
p.Ser261Ala |
Missense |
7/11 |
- |
3 |
17-7577499-CT-GA |
c.781_782delinsTC |
p.Ser261Ser |
Missense |
7/11 |
- |
1 |
17-7577500-T-TAC |
c.780_781insGT |
p.Ser261Valfs*85 |
SpliceDonorInsertion |
7/11 |
- |
1 |
17-7577501-G-T |
c.780C>A |
p.Ser260Ser |
Synonymous |
7/11 |
- |
1 |
17-7577501-G-A |
c.780C>T |
p.Ser260Ser |
Synonymous |
7/11 |
- |
1 |
17-7577501-G-C |
c.780C>G |
p.Ser260Ser |
Synonymous |
7/11 |
- |
1 |
17-7577502-GGAG-G |
c.778_780del |
p.Ser261del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577502-GG-G |
c.780del |
p.Ser261Valfs*84 |
Frameshift |
7/11 |
- |
1 |
17-7577502-G-A |
c.779C>T |
p.Ser260Phe |
Missense |
7/11 |
- |
3 |
17-7577503-A-C |
c.778T>G |
p.Ser260Ala |
Missense |
7/11 |
- |
5 |
17-7577503-A-T |
c.778T>A |
p.Ser260Thr |
Missense |
7/11 |
- |
2 |
17-7577503-GA-G |
c.778del |
p.Ser260Profs*85 |
Frameshift |
7/11 |
- |
1 |
17-7577504-G-A |
c.777C>T |
p.Asp259Asp |
Synonymous |
7/11 |
- |
1 |
17-7577504-G-C |
c.777C>G |
p.Asp259Glu |
Missense |
7/11 |
- |
1 |
17-7577504-G-T |
c.777C>A |
p.Asp259Glu |
Missense |
7/11 |
- |
1 |
17-7577505-T-C |
c.776A>G |
p.Asp259Gly |
Missense |
7/11 |
- |
3 |
17-7577505-T-A |
c.776A>T |
p.Asp259Val |
Missense |
7/11 |
- |
8 |
17-7577505-T-G |
c.776A>C |
p.Asp259Ala |
Missense |
7/11 |
- |
2 |
17-7577506-C-T |
c.775G>A |
p.Asp259Asn |
Missense |
7/11 |
- |
4 |
17-7577506-C-G |
c.775G>C |
p.Asp259His |
Missense |
7/11 |
- |
5 |
17-7577506-C-A |
c.775G>T |
p.Asp259Tyr |
Missense |
7/11 |
- |
22 |
17-7577507-T-A |
c.774A>T |
p.Glu258Asp |
Missense |
7/11 |
- |
6 |
17-7577507-T-G |
c.774A>C |
p.Glu258Asp |
Missense |
7/11 |
- |
6 |
17-7577508-T-G |
c.773A>C |
p.Glu258Ala |
Missense |
7/11 |
- |
1 |
17-7577508-T-A |
c.773A>T |
p.Glu258Val |
Missense |
7/11 |
- |
8 |
17-7577508-T-C |
c.773A>G |
p.Glu258Gly |
Missense |
7/11 |
- |
6 |
17-7577508-TC-AA |
c.772_773delinsTT |
p.Glu258Leu |
Missense |
7/11 |
- |
1 |
17-7577509-C-A |
c.772G>T |
p.Glu258* |
Nonsense |
7/11 |
- |
4 |
17-7577509-C-G |
c.772G>C |
p.Glu258Gln |
Missense |
7/11 |
- |
2 |
17-7577509-C-T |
c.772G>A |
p.Glu258Lys |
Missense |
7/11 |
- |
37 |
17-7577510-C-G |
c.771G>C |
p.Leu257Leu |
Synonymous |
7/11 |
- |
2 |
17-7577510-C-T |
c.771G>A |
p.Leu257Leu |
Synonymous |
7/11 |
- |
1 |
17-7577512-G-A |
c.769C>T |
p.Leu257Leu |
Synonymous |
7/11 |
- |
1 |
17-7577510-C-A |
c.771G>T |
p.Leu257Leu |
Synonymous |
7/11 |
- |
1 |
17-7577511-AG-GC |
c.769_770delinsGC |
p.Leu257Ala |
Missense |
7/11 |
- |
1 |
17-7577511-A-T |
c.770T>A |
p.Leu257Gln |
Missense |
7/11 |
- |
4 |
17-7577511-A-G |
c.770T>C |
p.Leu257Pro |
Missense |
7/11 |
- |
13 |
17-7577511-A-C |
c.770T>G |
p.Leu257Arg |
Missense |
7/11 |
- |
6 |
17-7577512-G-C |
c.769C>G |
p.Leu257Val |
Missense |
7/11 |
- |
2 |
17-7577513-GTGTGAT-G |
c.763_768del |
p.Ile255_Thr256del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577514-G-C |
c.767C>G |
p.Thr256Arg |
Missense |
7/11 |
- |
1 |
17-7577514-G-A |
c.767C>T |
p.Thr256Ile |
Missense |
7/11 |
- |
3 |
17-7577514-G-T |
c.767C>A |
p.Thr256Lys |
Missense |
7/11 |
- |
1 |
17-7577515-T-A |
c.766A>T |
p.Thr256Ser |
Missense |
7/11 |
- |
1 |
17-7577515-T-C |
c.766A>G |
p.Thr256Ala |
Missense |
7/11 |
- |
4 |
17-7577516-G-A |
c.765C>T |
p.Ile255Ile |
Synonymous |
7/11 |
- |
1 |
17-7577516-G-T |
c.765C>A |
p.Ile255Ile |
Synonymous |
7/11 |
- |
1 |
17-7577517-A-C |
c.764T>G |
p.Ile255Ser |
Missense |
7/11 |
- |
3 |
17-7577517-A-G |
c.764T>C |
p.Ile255Thr |
Missense |
7/11 |
- |
3 |
17-7577517-A-T |
c.764T>A |
p.Ile255Asn |
Missense |
7/11 |
- |
6 |
17-7577518-T-A |
c.763A>T |
p.Ile255Phe |
Missense |
7/11 |
- |
11 |
17-7577518-T-C |
c.763A>G |
p.Ile255Val |
Missense |
7/11 |
- |
1 |
17-7577520-GATG-G |
c.764_766del |
p.Ile255del |
InFrameDeletion |
7/11 |
- |
4 |
17-7577520-A-T |
c.761T>A |
p.Ile254Asn |
Missense |
7/11 |
- |
3 |
17-7577520-A-C |
c.761T>G |
p.Ile254Ser |
Missense |
7/11 |
- |
8 |
17-7577520-A-G |
c.761T>C |
p.Ile254Thr |
Missense |
7/11 |
- |
7 |
17-7577521-T-C |
c.760A>G |
p.Ile254Val |
Missense |
7/11 |
- |
3 |
17-7577521-T-G |
c.760A>C |
p.Ile254Leu |
Missense |
7/11 |
- |
2 |
17-7577522-G-T |
c.759C>A |
p.Thr253Thr |
Synonymous |
7/11 |
- |
1 |
17-7577522-G-A |
c.759C>T |
p.Thr253Thr |
Synonymous |
7/11 |
- |
1 |
17-7577522-G-C |
c.759C>G |
p.Thr253Thr |
Synonymous |
7/11 |
- |
1 |
17-7577523-G-A |
c.758C>T |
p.Thr253Ile |
Missense |
7/11 |
- |
9 |
17-7577523-G-C |
c.758C>G |
p.Thr253Ser |
Missense |
7/11 |
- |
1 |
17-7577523-G-T |
c.758C>A |
p.Thr253Asn |
Missense |
7/11 |
- |
2 |
17-7577524-T-A |
c.757A>T |
p.Thr253Ser |
Missense |
7/11 |
- |
1 |
17-7577524-T-TT |
c.757dup |
p.Thr253Asnfs*11 |
Frameshift |
7/11 |
- |
1 |
17-7577524-GTGAGGATGG-G |
c.754_762del |
p.Leu252_Ile254del |
InFrameDeletion |
7/11 |
- |
2 |
17-7577524-T-G |
c.757A>C |
p.Thr253Pro |
Missense |
7/11 |
- |
1 |
17-7577524-T-C |
c.757A>G |
p.Thr253Ala |
Missense |
7/11 |
- |
6 |
17-7577525-TG-T |
c.756del |
p.Thr253Profs*92 |
Frameshift |
7/11 |
- |
1 |
17-7577525-GAG-AAG |
c.756delinsT |
p.Leu252Leu |
Missense |
7/11 |
- |
1 |
17-7577526-GAGGATGGG-G |
c.749_756del |
p.Pro250Hisfs*11 |
Frameshift |
7/11 |
- |
1 |
17-7577526-GAGGATGGGCC-G |
c.746_755del |
p.Arg249Thrfs*93 |
Frameshift |
7/11 |
- |
1 |
17-7577526-A-G |
c.755T>C |
p.Leu252Pro |
Missense |
7/11 |
- |
6 |
17-7577527-G-A |
c.754C>T |
p.Leu252Phe |
Missense |
7/11 |
- |
1 |
17-7577527-AGGA-A |
c.754_756del |
p.Leu252del |
InFrameDeletion |
7/11 |
- |
3 |
17-7577528-G-C |
c.753C>G |
p.Ile251Met |
Missense |
7/11 |
- |
1 |
17-7577528-GG-G |
c.754del |
p.Leu252Serfs*93 |
Frameshift |
7/11 |
- |
1 |
17-7577529-GATG-G |
c.751_753del |
p.Ile251del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577529-A-T |
c.752T>A |
p.Ile251Asn |
Missense |
7/11 |
- |
3 |
17-7577529-A-C |
c.752T>G |
p.Ile251Ser |
Missense |
7/11 |
- |
6 |
17-7577529-A-G |
c.752T>C |
p.Ile251Thr |
Missense |
7/11 |
- |
3 |
17-7577530-T-C |
c.751A>G |
p.Ile251Val |
Missense |
7/11 |
- |
1 |
17-7577530-T-A |
c.751A>T |
p.Ile251Phe |
Missense |
7/11 |
- |
2 |
17-7577530-T-G |
c.751A>C |
p.Ile251Leu |
Missense |
7/11 |
- |
5 |
17-7577531-TGGG-T |
c.748_750del |
p.Pro250del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577532-GG-TT |
c.748_749delinsAA |
p.Pro250Asn |
Missense |
7/11 |
- |
1 |
17-7577532-G-A |
c.749C>T |
p.Pro250Leu |
Missense |
7/11 |
- |
13 |
17-7577532-GGGCCTCCGGTTCATG-G |
c.738_752del |
p.Met246_Pro250del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577533-G-C |
c.748C>G |
p.Pro250Ala |
Missense |
7/11 |
- |
1 |
17-7577533-G-T |
c.748C>A |
p.Pro250Thr |
Missense |
7/11 |
- |
3 |
17-7577533-GG-G |
c.750del |
p.Ile251Serfs*94 |
Frameshift |
7/11 |
- |
1 |
17-7577534-C-A |
c.747G>T |
p.Arg249Ser |
Missense |
7/11 |
- |
435 |
17-7577534-CC-TC |
c.747delinsA |
p.Arg249Arg |
Missense |
7/11 |
- |
1 |
17-7577534-C-G |
c.747G>C |
p.Arg249Ser |
Missense |
7/11 |
- |
424 |
17-7577534-CCT-GAC |
c.745_747delinsGTC |
p.Arg249Val |
Missense |
7/11 |
- |
1 |
17-7577535-C-T |
c.746G>A |
p.Arg249Lys |
Missense |
7/11 |
- |
7 |
17-7577535-C-A |
c.746G>T |
p.Arg249Met |
Missense |
7/11 |
- |
18 |
17-7577535-C-G |
c.746G>C |
p.Arg249Thr |
Missense |
7/11 |
- |
5 |
17-7577535-CT-GC |
c.745_746delinsGC |
p.Arg249Ala |
Missense |
7/11 |
- |
2 |
17-7577536-CTCC-C |
c.745_747del |
p.Arg249del |
InFrameDeletion |
7/11 |
- |
2 |
17-7577536-T-TA |
c.744_745insT |
p.Arg249* |
Nonsense |
7/11 |
- |
1 |
17-7577536-T-A |
c.745A>T |
p.Arg249Trp |
Missense |
7/11 |
- |
15 |
17-7577536-T-C |
c.745A>G |
p.Arg249Gly |
Missense |
7/11 |
- |
8 |
17-7577537-CC-AT |
c.743_744delinsAT |
p.Arg248His |
Missense |
7/11 |
- |
16 |
17-7577537-CCG-TAT |
c.742_744delinsATA |
p.Arg248Ile |
Missense |
7/11 |
- |
2 |
17-7577537-CCG-AGC |
c.742_744delinsGCT |
p.Arg248Ala |
Missense |
7/11 |
- |
1 |
17-7577537-CCG-TGT |
c.742_744delinsACA |
p.Arg248Thr |
Missense |
7/11 |
- |
3 |
17-7577538-CG-TA |
c.742_743delinsTA |
p.Arg248* |
Nonsense |
7/11 |
- |
1 |
17-7577538-C-T |
c.743G>A |
p.Arg248Gln |
Missense |
7/11 |
- |
650 |
17-7577538-C-A |
c.743G>T |
p.Arg248Leu |
Missense |
7/11 |
- |
64 |
17-7577538-C-G |
c.743G>C |
p.Arg248Pro |
Missense |
7/11 |
- |
19 |
17-7577538-CG-GT |
c.742_743delinsAC |
p.Arg248Thr |
Missense |
7/11 |
- |
1 |
17-7577538-CG-AC |
c.742_743delinsGT |
p.Arg248Val |
Missense |
7/11 |
- |
2 |
17-7577538-CG-GA |
c.742_743delinsTC |
p.Arg248Ser |
Missense |
7/11 |
- |
8 |
17-7577538-CG-GC |
c.742_743delinsGC |
p.Arg248Ala |
Missense |
7/11 |
- |
6 |
17-7577537-C-T |
c.744G>A |
p.Arg248Arg |
Synonymous |
7/11 |
- |
5 |
17-7577537-C-G |
c.744G>C |
p.Arg248Arg |
Synonymous |
7/11 |
- |
5 |
17-7577537-C-A |
c.744G>T |
p.Arg248Arg |
Synonymous |
7/11 |
- |
5 |
17-7577539-G-T |
c.742C>A |
p.Arg248Arg |
Synonymous |
7/11 |
- |
5 |
17-7577539-G-A |
c.742C>T |
p.Arg248Trp |
Missense |
7/11 |
- |
639 |
17-7577539-G-C |
c.742C>G |
p.Arg248Gly |
Missense |
7/11 |
- |
35 |
17-7577540-G-A |
c.741C>T |
p.Asn247Asn |
Synonymous |
7/11 |
- |
1 |
17-7577540-G-C |
c.741C>G |
p.Asn247Lys |
Missense |
7/11 |
- |
2 |
17-7577540-G-T |
c.741C>A |
p.Asn247Lys |
Missense |
7/11 |
- |
2 |
17-7577541-T-A |
c.740A>T |
p.Asn247Ile |
Missense |
7/11 |
- |
6 |
17-7577541-T-C |
c.740A>G |
p.Asn247Ser |
Missense |
7/11 |
- |
2 |
17-7577542-T-A |
c.739A>T |
p.Asn247Tyr |
Missense |
7/11 |
- |
2 |
17-7577542-T-C |
c.739A>G |
p.Asn247Asp |
Missense |
7/11 |
- |
2 |
17-7577543-C-G |
c.738G>C |
p.Met246Ile |
Missense |
7/11 |
- |
29 |
17-7577543-C-A |
c.738G>T |
p.Met246Ile |
Missense |
7/11 |
- |
27 |
17-7577543-C-T |
c.738G>A |
p.Met246Ile |
Missense |
7/11 |
- |
28 |
17-7577544-A-G |
c.737T>C |
p.Met246Thr |
Missense |
7/11 |
- |
6 |
17-7577544-AT-GC |
c.736_737delinsGC |
p.Met246Ala |
Missense |
7/11 |
- |
2 |
17-7577544-A-C |
c.737T>G |
p.Met246Arg |
Missense |
7/11 |
- |
8 |
17-7577544-A-T |
c.737T>A |
p.Met246Lys |
Missense |
7/11 |
- |
6 |
17-7577545-ATGCCGCCCATGCAG-A |
c.723_736del |
p.Cys242Glufs*17 |
Frameshift |
7/11 |
- |
1 |
17-7577545-T-G |
c.736A>C |
p.Met246Leu |
Missense |
7/11 |
- |
8 |
17-7577545-T-C |
c.736A>G |
p.Met246Val |
Missense |
7/11 |
- |
28 |
17-7577545-T-A |
c.736A>T |
p.Met246Leu |
Missense |
7/11 |
- |
8 |
17-7577545-ATGCCGCCCATGCAGGAACTGTTA-A |
c.715_737del |
p.Asn239Glufs*17 |
Frameshift |
7/11 |
- |
1 |
17-7577546-G-C |
c.735C>G |
p.Gly245Gly |
Synonymous |
7/11 |
- |
2 |
17-7577546-G-A |
c.735C>T |
p.Gly245Gly |
Synonymous |
7/11 |
- |
2 |
17-7577546-G-T |
c.735C>A |
p.Gly245Gly |
Synonymous |
7/11 |
- |
2 |
17-7577547-CC-AA |
c.733_734delinsTT |
p.Gly245Phe |
Missense |
7/11 |
- |
4 |
17-7577547-CC-TT |
c.733_734delinsAA |
p.Gly245Asn |
Missense |
7/11 |
- |
1 |
17-7577547-C-T |
c.734G>A |
p.Gly245Asp |
Missense |
7/11 |
- |
90 |
17-7577547-C-A |
c.734G>T |
p.Gly245Val |
Missense |
7/11 |
- |
40 |
17-7577547-C-G |
c.734G>C |
p.Gly245Ala |
Missense |
7/11 |
- |
17 |
17-7577548-C-CACCCAT |
c.732_733insATGGGT |
p.Met243_Gly244dup |
InFrameInsertion |
7/11 |
- |
1 |
17-7577548-C-G |
c.733G>C |
p.Gly245Arg |
Missense |
7/11 |
- |
13 |
17-7577548-C-A |
c.733G>T |
p.Gly245Cys |
Missense |
7/11 |
- |
77 |
17-7577548-C-T |
c.733G>A |
p.Gly245Ser |
Missense |
7/11 |
- |
342 |
17-7577549-CGCC-C |
c.733_735del |
p.Gly245del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577549-G-A |
c.732C>T |
p.Gly244Gly |
Synonymous |
7/11 |
- |
2 |
17-7577549-G-T |
c.732C>A |
p.Gly244Gly |
Synonymous |
7/11 |
- |
2 |
17-7577549-G-C |
c.732C>G |
p.Gly244Gly |
Synonymous |
7/11 |
- |
2 |
17-7577550-C-A |
c.731G>T |
p.Gly244Val |
Missense |
7/11 |
- |
6 |
17-7577550-C-G |
c.731G>C |
p.Gly244Ala |
Missense |
7/11 |
- |
8 |
17-7577550-C-T |
c.731G>A |
p.Gly244Asp |
Missense |
7/11 |
- |
25 |
17-7577550-CC-AT |
c.730_731delinsAT |
p.Gly244Ile |
Missense |
7/11 |
- |
1 |
17-7577551-C-A |
c.730G>T |
p.Gly244Cys |
Missense |
7/11 |
- |
18 |
17-7577551-C-G |
c.730G>C |
p.Gly244Arg |
Missense |
7/11 |
- |
4 |
17-7577551-C-T |
c.730G>A |
p.Gly244Ser |
Missense |
7/11 |
- |
17 |
17-7577551-CCCATGC-C |
c.727_732del |
p.Met243_Gly244del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577552-C-G |
c.729G>C |
p.Met243Ile |
Missense |
7/11 |
- |
1 |
17-7577552-C-A |
c.729G>T |
p.Met243Ile |
Missense |
7/11 |
- |
1 |
17-7577552-C-T |
c.729G>A |
p.Met243Ile |
Missense |
7/11 |
- |
1 |
17-7577553-A-G |
c.728T>C |
p.Met243Thr |
Missense |
7/11 |
- |
3 |
17-7577554-T-C |
c.727A>G |
p.Met243Val |
Missense |
7/11 |
- |
2 |
17-7577554-T-G |
c.727A>C |
p.Met243Leu |
Missense |
7/11 |
- |
1 |
17-7577554-T-A |
c.727A>T |
p.Met243Leu |
Missense |
7/11 |
- |
1 |
17-7577555-G-C |
c.726C>G |
p.Cys242Trp |
Missense |
7/11 |
- |
5 |
17-7577555-G-T |
c.726C>A |
p.Cys242* |
Nonsense |
7/11 |
- |
2 |
17-7577555-G-A |
c.726C>T |
p.Cys242Cys |
Synonymous |
7/11 |
- |
1 |
17-7577556-C-A |
c.725G>T |
p.Cys242Phe |
Missense |
7/11 |
- |
42 |
17-7577556-C-T |
c.725G>A |
p.Cys242Tyr |
Missense |
7/11 |
- |
30 |
17-7577556-CA-AC |
c.724_725delinsGT |
p.Cys242Val |
Missense |
7/11 |
- |
4 |
17-7577556-C-G |
c.725G>C |
p.Cys242Ser |
Missense |
7/11 |
- |
39 |
17-7577557-A-G |
c.724T>C |
p.Cys242Arg |
Missense |
7/11 |
- |
9 |
17-7577557-A-C |
c.724T>G |
p.Cys242Gly |
Missense |
7/11 |
- |
3 |
17-7577557-A-T |
c.724T>A |
p.Cys242Ser |
Missense |
7/11 |
- |
38 |
17-7577559-G-GT |
c.721_722insA |
p.Ser241Tyrfs*23 |
Frameshift |
7/11 |
- |
1 |
17-7577559-G-C |
c.722C>G |
p.Ser241Cys |
Missense |
7/11 |
- |
9 |
17-7577559-G-A |
c.722C>T |
p.Ser241Phe |
Missense |
7/11 |
- |
139 |
17-7577559-G-T |
c.722C>A |
p.Ser241Tyr |
Missense |
7/11 |
- |
20 |
17-7577560-A-G |
c.721T>C |
p.Ser241Pro |
Missense |
7/11 |
- |
4 |
17-7577560-A-T |
c.721T>A |
p.Ser241Thr |
Missense |
7/11 |
- |
5 |
17-7577560-A-C |
c.721T>G |
p.Ser241Ala |
Missense |
7/11 |
- |
3 |
17-7577561-A-C |
c.720T>G |
p.Ser240Arg |
Missense |
7/11 |
- |
12 |
17-7577561-A-T |
c.720T>A |
p.Ser240Arg |
Missense |
7/11 |
- |
12 |
17-7577563-T-G |
c.718A>C |
p.Ser240Arg |
Missense |
7/11 |
- |
12 |
17-7577561-ACT-GAG |
c.718_720delinsCTC |
p.Ser240Leu |
Missense |
7/11 |
- |
1 |
17-7577562-C-T |
c.719G>A |
p.Ser240Asn |
Missense |
7/11 |
- |
7 |
17-7577562-C-A |
c.719G>T |
p.Ser240Ile |
Missense |
7/11 |
- |
1 |
17-7577562-CT-GA |
c.718_719delinsTC |
p.Ser240Ser |
Missense |
7/11 |
- |
1 |
17-7577562-CT-GC |
c.718_719delinsGC |
p.Ser240Ala |
Missense |
7/11 |
- |
3 |
17-7577563-CTGTTAC-C |
c.715_720del |
p.Asn239_Ser240del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577563-T-C |
c.718A>G |
p.Ser240Gly |
Missense |
7/11 |
- |
7 |
17-7577563-T-A |
c.718A>T |
p.Ser240Cys |
Missense |
7/11 |
- |
1 |
17-7577564-G-C |
c.717C>G |
p.Asn239Lys |
Missense |
7/11 |
- |
3 |
17-7577564-G-A |
c.717C>T |
p.Asn239Asn |
Synonymous |
7/11 |
- |
1 |
17-7577564-G-T |
c.717C>A |
p.Asn239Lys |
Missense |
7/11 |
- |
3 |
17-7577564-GTT-TAA |
c.715_717delinsTTA |
p.Asn239Leu |
Nonsense |
7/11 |
- |
3 |
17-7577565-T-C |
c.716A>G |
p.Asn239Ser |
Missense |
7/11 |
- |
26 |
17-7577565-T-G |
c.716A>C |
p.Asn239Thr |
Missense |
7/11 |
- |
5 |
17-7577566-T-C |
c.715A>G |
p.Asn239Asp |
Missense |
7/11 |
- |
24 |
17-7577566-T-A |
c.715A>T |
p.Asn239Tyr |
Missense |
7/11 |
- |
50 |
17-7577567-A-AA |
c.714dup |
p.Asn239* |
Nonsense |
7/11 |
- |
3 |
17-7577567-A-C |
c.714T>G |
p.Cys238Trp |
Missense |
7/11 |
- |
2 |
17-7577567-A-G |
c.714T>C |
p.Cys238Cys |
Synonymous |
7/11 |
- |
1 |
17-7577567-TACA-T |
c.712_714del |
p.Cys238del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577567-A-T |
c.714T>A |
p.Cys238* |
Nonsense |
7/11 |
- |
1 |
17-7577568-C-A |
c.713G>T |
p.Cys238Phe |
Missense |
7/11 |
- |
36 |
17-7577568-CA-AC |
c.712_713delinsGT |
p.Cys238Val |
Missense |
7/11 |
- |
1 |
17-7577568-C-T |
c.713G>A |
p.Cys238Tyr |
Missense |
7/11 |
- |
37 |
17-7577569-A-T |
c.712T>A |
p.Cys238Ser |
Missense |
7/11 |
- |
19 |
17-7577568-C-G |
c.713G>C |
p.Cys238Ser |
Missense |
7/11 |
- |
20 |
17-7577569-A-G |
c.712T>C |
p.Cys238Arg |
Missense |
7/11 |
- |
5 |
17-7577569-A-C |
c.712T>G |
p.Cys238Gly |
Missense |
7/11 |
- |
2 |
17-7577570-C-T |
c.711G>A |
p.Met237Ile |
Missense |
7/11 |
- |
89 |
17-7577570-C-G |
c.711G>C |
p.Met237Ile |
Missense |
7/11 |
- |
83 |
17-7577570-C-A |
c.711G>T |
p.Met237Ile |
Missense |
7/11 |
- |
88 |
17-7577571-A-T |
c.710T>A |
p.Met237Lys |
Missense |
7/11 |
- |
5 |
17-7577572-T-C |
c.709A>G |
p.Met237Val |
Missense |
7/11 |
- |
6 |
17-7577572-T-G |
c.709A>C |
p.Met237Leu |
Missense |
7/11 |
- |
1 |
17-7577573-G-A |
c.708C>T |
p.Tyr236Tyr |
Synonymous |
7/11 |
- |
1 |
17-7577573-G-T |
c.708C>A |
p.Tyr236* |
Nonsense |
7/11 |
- |
6 |
17-7577574-T-C |
c.707A>G |
p.Tyr236Cys |
Missense |
7/11 |
- |
31 |
17-7577574-T-G |
c.707A>C |
p.Tyr236Ser |
Missense |
7/11 |
- |
4 |
17-7577574-T-A |
c.707A>T |
p.Tyr236Phe |
Missense |
7/11 |
- |
12 |
17-7577574-TA-AC |
c.706_707delinsGT |
p.Tyr236Val |
Missense |
7/11 |
- |
1 |
17-7577575-A-T |
c.706T>A |
p.Tyr236Asn |
Missense |
7/11 |
- |
4 |
17-7577575-A-C |
c.706T>G |
p.Tyr236Asp |
Missense |
7/11 |
- |
8 |
17-7577575-A-G |
c.706T>C |
p.Tyr236His |
Missense |
7/11 |
- |
2 |
17-7577575-TAGT-T |
c.706_708del |
p.Tyr236del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577576-G-C |
c.705C>G |
p.Asn235Lys |
Missense |
7/11 |
- |
12 |
17-7577576-G-T |
c.705C>A |
p.Asn235Lys |
Missense |
7/11 |
- |
12 |
17-7577577-T-A |
c.704A>T |
p.Asn235Ile |
Missense |
7/11 |
- |
1 |
17-7577577-T-C |
c.704A>G |
p.Asn235Ser |
Missense |
7/11 |
- |
15 |
17-7577578-TTGTAGT-T |
c.704_709del |
p.Asn235_Tyr236del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577578-T-C |
c.703A>G |
p.Asn235Asp |
Missense |
7/11 |
- |
6 |
17-7577579-G-C |
c.702C>G |
p.Tyr234* |
Nonsense |
7/11 |
- |
8 |
17-7577580-T-G |
c.701A>C |
p.Tyr234Ser |
Missense |
7/11 |
- |
1 |
17-7577580-T-A |
c.701A>T |
p.Tyr234Phe |
Missense |
7/11 |
- |
4 |
17-7577580-T-C |
c.701A>G |
p.Tyr234Cys |
Missense |
7/11 |
- |
56 |
17-7577580-TA-CT |
c.700_701delinsAG |
p.Tyr234Ser |
Missense |
7/11 |
- |
1 |
17-7577581-A-G |
c.700T>C |
p.Tyr234His |
Missense |
7/11 |
- |
21 |
17-7577581-A-T |
c.700T>A |
p.Tyr234Asn |
Missense |
7/11 |
- |
5 |
17-7577581-TAGT-T |
c.700_702del |
p.Tyr234del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577581-A-C |
c.700T>G |
p.Tyr234Asp |
Missense |
7/11 |
- |
4 |
17-7577582-G-A |
c.699C>T |
p.His233His |
Synonymous |
7/11 |
- |
1 |
17-7577583-T-G |
c.698A>C |
p.His233Pro |
Missense |
7/11 |
- |
1 |
17-7577583-GTGG-G |
c.697_699del |
p.His233del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577584-G-A |
c.697C>T |
p.His233Tyr |
Missense |
7/11 |
- |
4 |
17-7577584-G-C |
c.697C>G |
p.His233Asp |
Missense |
7/11 |
- |
2 |
17-7577584-G-T |
c.697C>A |
p.His233Asn |
Missense |
7/11 |
- |
2 |
17-7577585-G-C |
c.696C>G |
p.Ile232Met |
Missense |
7/11 |
- |
1 |
17-7577586-A-G |
c.695T>C |
p.Ile232Thr |
Missense |
7/11 |
- |
8 |
17-7577586-AT-GC |
c.694_695delinsGC |
p.Ile232Ala |
Missense |
7/11 |
- |
1 |
17-7577586-A-C |
c.695T>G |
p.Ile232Ser |
Missense |
7/11 |
- |
1 |
17-7577586-A-T |
c.695T>A |
p.Ile232Asn |
Missense |
7/11 |
- |
3 |
17-7577587-T-A |
c.694A>T |
p.Ile232Phe |
Missense |
7/11 |
- |
5 |
17-7577589-G-A |
c.692C>T |
p.Thr231Ile |
Missense |
7/11 |
- |
5 |
17-7577589-G-T |
c.692C>A |
p.Thr231Asn |
Missense |
7/11 |
- |
1 |
17-7577590-T-G |
c.691A>C |
p.Thr231Pro |
Missense |
7/11 |
- |
1 |
17-7577590-T-C |
c.691A>G |
p.Thr231Ala |
Missense |
7/11 |
- |
2 |
17-7577593-T-TG |
c.687_688insC |
p.Thr230Hisfs*10 |
Frameshift |
7/11 |
- |
1 |
17-7577593-T-G |
c.688A>C |
p.Thr230Pro |
Missense |
7/11 |
- |
1 |
17-7577593-T-C |
c.688A>G |
p.Thr230Ala |
Missense |
7/11 |
- |
2 |
17-7577594-A-T |
c.687T>A |
p.Cys229* |
Nonsense |
7/11 |
- |
1 |
17-7577594-A-G |
c.687T>C |
p.Cys229Cys |
Synonymous |
7/11 |
- |
1 |
17-7577595-CA-GC |
c.685_686delinsGC |
p.Cys229Ala |
Missense |
7/11 |
- |
3 |
17-7577595-C-T |
c.686G>A |
p.Cys229Tyr |
Missense |
7/11 |
- |
6 |
17-7577595-CA-AC |
c.685_686delinsGT |
p.Cys229Val |
Missense |
7/11 |
- |
1 |
17-7577595-ACA-A |
c.686_687del |
p.Cys229Tyrfs*10 |
Frameshift |
7/11 |
- |
3 |
17-7577595-C-A |
c.686G>T |
p.Cys229Phe |
Missense |
7/11 |
- |
1 |
17-7577595-C-G |
c.686G>C |
p.Cys229Ser |
Missense |
7/11 |
- |
2 |
17-7577596-A-C |
c.685T>G |
p.Cys229Gly |
Missense |
7/11 |
- |
1 |
17-7577596-A-G |
c.685T>C |
p.Cys229Arg |
Missense |
7/11 |
- |
3 |
17-7577596-A-T |
c.685T>A |
p.Cys229Ser |
Missense |
7/11 |
- |
2 |
17-7577597-G-GGTCAAACCCCG |
c.684_685insGGGGTTTGACC |
p.Cys229Glyfs*3 |
Frameshift |
7/11 |
- |
1 |
17-7577597-G-T |
c.684C>A |
p.Asp228Glu |
Missense |
7/11 |
- |
1 |
17-7577597-G-C |
c.684C>G |
p.Asp228Glu |
Missense |
7/11 |
- |
1 |
17-7577598-T-C |
c.683A>G |
p.Asp228Gly |
Missense |
7/11 |
- |
1 |
17-7577598-T-TTT |
c.683_684insAA |
p.Asp228Glufs*20 |
Frameshift |
7/11 |
- |
1 |
17-7577599-C-T |
c.682G>A |
p.Asp228Asn |
Missense |
7/11 |
- |
2 |
17-7577599-C-G |
c.682G>C |
p.Asp228His |
Missense |
7/11 |
- |
3 |
17-7577600-AGA-AAG |
c.679_680delinsCT |
p.Ser227Leu |
Missense |
7/11 |
- |
2 |
17-7577601-G-C |
c.680C>G |
p.Ser227Cys |
Missense |
7/11 |
- |
1 |
17-7577601-GA-CG |
c.679_680delinsCG |
p.Ser227Arg |
Missense |
7/11 |
- |
3 |
17-7577602-A-T |
c.679T>A |
p.Ser227Thr |
Missense |
7/11 |
- |
1 |
17-7577602-A-C |
c.679T>G |
p.Ser227Ala |
Missense |
7/11 |
- |
1 |
17-7577602-A-G |
c.679T>C |
p.Ser227Pro |
Missense |
7/11 |
- |
2 |
17-7577603-GC-AG |
c.677_678delinsCT |
p.Gly226Ala |
Missense |
7/11 |
- |
1 |
17-7577604-C-G |
c.677G>C |
p.Gly226Ala |
Missense |
7/11 |
- |
4 |
17-7577604-C-A |
c.677G>T |
p.Gly226Val |
Missense |
7/11 |
- |
1 |
17-7577604-C-T |
c.677G>A |
p.Gly226Asp |
Missense |
7/11 |
- |
6 |
17-7577604-GCCA-G |
c.675_677del |
p.Gly226del |
InFrameDeletion |
7/11 |
- |
1 |
17-7577605-C-G |
c.676G>C |
p.Gly226Arg |
Missense |
7/11 |
- |
2 |
17-7577605-C-A |
c.676G>T |
p.Gly226Cys |
Missense |
7/11 |
- |
1 |
17-7577605-C-T |
c.676G>A |
p.Gly226Ser |
Missense |
7/11 |
- |
4 |
17-7577605-CC-C |
c.677del |
p.Gly226Alafs*21 |
Frameshift |
7/11 |
- |
2 |
17-7577608-C-T |
c.673G>A |
p.Val225Ile |
Missense |
7/11 |
- |
2 |
17-7577609-C-A |
c.673-1G>T |
- |
IntronicSNV |
- |
6/10 |
3 |
17-7577609-C-G |
c.673-1G>C |
- |
IntronicSNV |
- |
6/10 |
2 |
17-7577609-C-T |
c.673-1G>A |
- |
IntronicSNV |
- |
6/10 |
3 |
17-7577610-T-G |
c.673-2A>C |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7577610-T-C |
c.673-2A>G |
- |
IntronicSNV |
- |
6/10 |
7 |
17-7577610-T-A |
c.673-2A>T |
- |
IntronicSNV |
- |
6/10 |
3 |
17-7577613-GGAGATAACACAGG-G |
c.673-16_673-4del |
- |
IntronicDeletion |
- |
6/10 |
1 |
17-7577644-C-T |
c.673-36G>A |
- |
IntronicSNV |
- |
6/10 |
7 |
17-7577644-C-G |
c.673-36G>C |
- |
IntronicSNV |
- |
6/10 |
10 |
17-7578115-T-G |
c.672+62A>C |
- |
IntronicSNV |
- |
6/10 |
36 |
17-7578115-T-A |
c.672+62A>T |
- |
IntronicSNV |
- |
6/10 |
36 |
17-7578115-T-C |
c.672+62A>G |
- |
IntronicSNV |
- |
6/10 |
45 |
17-7578129-C-A |
c.672+48G>T |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7578129-C-T |
c.672+48G>A |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7578146-T-C |
c.672+31A>G |
- |
IntronicSNV |
- |
6/10 |
4 |
17-7578159-C-G |
c.672+18G>C |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7578167-GCAAACCAGACCTCA-G |
c.669_672+10del |
- |
SpliceDonorDeletion |
6/11 |
6/10 |
1 |
17-7578171-C-T |
c.672+6G>A |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7578174-AGACCTCAGGCGGCTCATAGGGCACCACCA-A |
c.651_672+7del |
- |
SpliceDonorDeletion |
6/11 |
6/10 |
1 |
17-7578175-A-C |
c.672+2T>G |
- |
IntronicSNV |
- |
6/10 |
1 |
17-7578176-C-T |
c.672+1G>A |
- |
IntronicSNV |
- |
6/10 |
5 |
17-7578176-C-A |
c.672+1G>T |
- |
IntronicSNV |
- |
6/10 |
3 |
17-7578177-C-T |
c.672G>A |
p.Glu224Glu |
Synonymous |
6/11 |
- |
5 |
17-7578177-C-A |
c.672G>T |
p.Glu224Asp |
Missense |
6/11 |
- |
12 |
17-7578179-C-T |
c.670G>A |
p.Glu224Lys |
Missense |
6/11 |
- |
5 |
17-7578181-G-A |
c.668C>T |
p.Pro223Leu |
Missense |
6/11 |
- |
48 |
17-7578181-G-T |
c.668C>A |
p.Pro223His |
Missense |
6/11 |
- |
1 |
17-7578181-G-C |
c.668C>G |
p.Pro223Arg |
Missense |
6/11 |
- |
3 |
17-7578182-G-A |
c.667C>T |
p.Pro223Ser |
Missense |
6/11 |
- |
2 |
17-7578182-G-C |
c.667C>G |
p.Pro223Ala |
Missense |
6/11 |
- |
1 |
17-7578183-C-T |
c.666G>A |
p.Pro222Pro |
Synonymous |
6/11 |
- |
5 |
17-7578183-C-A |
c.666G>T |
p.Pro222Pro |
Synonymous |
6/11 |
- |
5 |
17-7578184-G-A |
c.665C>T |
p.Pro222Leu |
Missense |
6/11 |
- |
11 |
17-7578184-CGGC-C |
c.666_668del |
p.Pro223del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578185-G-A |
c.664C>T |
p.Pro222Ser |
Missense |
6/11 |
- |
1 |
17-7578186-GCTCA-G |
c.660_663del |
p.Glu221Argfs*25 |
Frameshift |
6/11 |
- |
1 |
17-7578186-C-T |
c.663G>A |
p.Glu221Glu |
Synonymous |
6/11 |
- |
1 |
17-7578186-GCTCATA-G |
c.658_663del |
p.Tyr220_Glu221del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578186-C-G |
c.663G>C |
p.Glu221Asp |
Missense |
6/11 |
- |
1 |
17-7578186-C-A |
c.663G>T |
p.Glu221Asp |
Missense |
6/11 |
- |
1 |
17-7578187-T-A |
c.662A>T |
p.Glu221Val |
Missense |
6/11 |
- |
3 |
17-7578187-T-C |
c.662A>G |
p.Glu221Gly |
Missense |
6/11 |
- |
2 |
17-7578187-T-G |
c.662A>C |
p.Glu221Ala |
Missense |
6/11 |
- |
1 |
17-7578188-C-T |
c.661G>A |
p.Glu221Lys |
Missense |
6/11 |
- |
5 |
17-7578188-C-A |
c.661G>T |
p.Glu221* |
Nonsense |
6/11 |
- |
4 |
17-7578188-C-G |
c.661G>C |
p.Glu221Gln |
Missense |
6/11 |
- |
1 |
17-7578189-CATA-C |
c.658_660del |
p.Tyr220del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578189-A-T |
c.660T>A |
p.Tyr220* |
Nonsense |
6/11 |
- |
5 |
17-7578189-A-C |
c.660T>G |
p.Tyr220* |
Nonsense |
6/11 |
- |
5 |
17-7578190-TA-CC |
c.658_659delinsGG |
p.Tyr220Gly |
Missense |
6/11 |
- |
1 |
17-7578190-T-A |
c.659A>T |
p.Tyr220Phe |
Missense |
6/11 |
- |
2 |
17-7578190-T-C |
c.659A>G |
p.Tyr220Cys |
Missense |
6/11 |
- |
390 |
17-7578190-T-G |
c.659A>C |
p.Tyr220Ser |
Missense |
6/11 |
- |
11 |
17-7578190-TA-GC |
c.658_659delinsGC |
p.Tyr220Ala |
Missense |
6/11 |
- |
1 |
17-7578191-A-G |
c.658T>C |
p.Tyr220His |
Missense |
6/11 |
- |
9 |
17-7578191-A-T |
c.658T>A |
p.Tyr220Asn |
Missense |
6/11 |
- |
6 |
17-7578191-A-C |
c.658T>G |
p.Tyr220Asp |
Missense |
6/11 |
- |
4 |
17-7578191-TAGGGCACCA-T |
c.650_658del |
p.Val217_Tyr220delinsAsp |
MultiAAMissense |
6/11 |
- |
1 |
17-7578193-G-A |
c.656C>T |
p.Pro219Leu |
Missense |
6/11 |
- |
3 |
17-7578194-G-A |
c.655C>T |
p.Pro219Ser |
Missense |
6/11 |
- |
7 |
17-7578195-CAC-ATC |
c.653_654delinsAT |
p.Val218Asp |
Missense |
6/11 |
- |
1 |
17-7578195-CAC-TAT |
c.652_654delinsATA |
p.Val218Ile |
Missense |
6/11 |
- |
1 |
17-7578196-A-T |
c.653T>A |
p.Val218Glu |
Missense |
6/11 |
- |
2 |
17-7578196-A-G |
c.653T>C |
p.Val218Ala |
Missense |
6/11 |
- |
2 |
17-7578196-A-C |
c.653T>G |
p.Val218Gly |
Missense |
6/11 |
- |
2 |
17-7578197-C-G |
c.652G>C |
p.Val218Leu |
Missense |
6/11 |
- |
3 |
17-7578197-C-T |
c.652G>A |
p.Val218Met |
Missense |
6/11 |
- |
2 |
17-7578197-C-A |
c.652G>T |
p.Val218Leu |
Missense |
6/11 |
- |
3 |
17-7578198-CCACCACACTATGTCGAAAAGTGTT-C |
c.628_651del |
p.Asn210_Val217del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578198-CA-AC |
c.650_651delinsGT |
p.Val217Gly |
Missense |
6/11 |
- |
1 |
17-7578199-A-C |
c.650T>G |
p.Val217Gly |
Missense |
6/11 |
- |
4 |
17-7578200-C-T |
c.649G>A |
p.Val217Met |
Missense |
6/11 |
- |
10 |
17-7578201-C-T |
c.648G>A |
p.Val216Val |
Synonymous |
6/11 |
- |
1 |
17-7578201-C-A |
c.648G>T |
p.Val216Val |
Synonymous |
6/11 |
- |
2 |
17-7578201-C-G |
c.648G>C |
p.Val216Val |
Synonymous |
6/11 |
- |
1 |
17-7578201-CCAC-C |
c.652_654del |
p.Val218del |
InFrameDeletion |
6/11 |
- |
4 |
17-7578202-A-T |
c.647T>A |
p.Val216Glu |
Missense |
6/11 |
- |
3 |
17-7578202-A-G |
c.647T>C |
p.Val216Ala |
Missense |
6/11 |
- |
2 |
17-7578202-A-C |
c.647T>G |
p.Val216Gly |
Missense |
6/11 |
- |
3 |
17-7578202-A-ATAA |
c.647_648insTAT |
p.Val216_Val217insMet |
InFrameInsertion |
6/11 |
- |
1 |
17-7578203-C-T |
c.646G>A |
p.Val216Met |
Missense |
6/11 |
- |
41 |
17-7578203-C-G |
c.646G>C |
p.Val216Leu |
Missense |
6/11 |
- |
6 |
17-7578204-ACT-TGA |
c.643_645delinsTCA |
p.Ser215Ser |
Nonsense |
6/11 |
- |
1 |
17-7578206-T-G |
c.643A>C |
p.Ser215Arg |
Missense |
6/11 |
- |
18 |
17-7578204-A-T |
c.645T>A |
p.Ser215Arg |
Missense |
6/11 |
- |
18 |
17-7578204-A-C |
c.645T>G |
p.Ser215Arg |
Missense |
6/11 |
- |
18 |
17-7578204-A-AAGA |
c.645_646insCTT |
p.Ser215_Val216insLeu |
InFrameInsertion |
6/11 |
- |
1 |
17-7578205-ACTATGTCGAAAA-A |
c.634_645del |
p.Phe212_Ser215del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578205-ACTA-A |
c.643_645del |
p.Ser215del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578205-C-T |
c.644G>A |
p.Ser215Asn |
Missense |
6/11 |
- |
10 |
17-7578205-C-A |
c.644G>T |
p.Ser215Ile |
Missense |
6/11 |
- |
18 |
17-7578205-CT-GC |
c.643_644delinsGC |
p.Ser215Ala |
Missense |
6/11 |
- |
8 |
17-7578205-CT-GA |
c.643_644delinsTC |
p.Ser215Ser |
Missense |
6/11 |
- |
5 |
17-7578206-T-C |
c.643A>G |
p.Ser215Gly |
Missense |
6/11 |
- |
18 |
17-7578206-T-A |
c.643A>T |
p.Ser215Cys |
Missense |
6/11 |
- |
4 |
17-7578207-TAT-T |
c.642_643del |
p.His214Glnfs*7 |
Frameshift |
6/11 |
- |
1 |
17-7578207-A-T |
c.642T>A |
p.His214Gln |
Missense |
6/11 |
- |
2 |
17-7578207-A-C |
c.642T>G |
p.His214Gln |
Missense |
6/11 |
- |
2 |
17-7578208-T-A |
c.641A>T |
p.His214Leu |
Missense |
6/11 |
- |
1 |
17-7578208-T-C |
c.641A>G |
p.His214Arg |
Missense |
6/11 |
- |
33 |
17-7578208-TG-GC |
c.640_641delinsGC |
p.His214Ala |
Missense |
6/11 |
- |
1 |
17-7578208-TG-AC |
c.640_641delinsGT |
p.His214Val |
Missense |
6/11 |
- |
1 |
17-7578209-G-T |
c.640C>A |
p.His214Asn |
Missense |
6/11 |
- |
1 |
17-7578209-G-C |
c.640C>G |
p.His214Asp |
Missense |
6/11 |
- |
1 |
17-7578209-G-A |
c.640C>T |
p.His214Tyr |
Missense |
6/11 |
- |
6 |
17-7578210-T-C |
c.639A>G |
p.Arg213Arg |
Synonymous |
6/11 |
- |
41 |
17-7578210-T-A |
c.639A>T |
p.Arg213Arg |
Synonymous |
6/11 |
- |
39 |
17-7578210-TCG-CCA |
c.637_639delinsTGG |
p.Arg213Trp |
Missense |
6/11 |
- |
1 |
17-7578210-TCG-AGC |
c.637_639delinsGCT |
p.Arg213Ala |
Missense |
6/11 |
- |
1 |
17-7578211-CG-AC |
c.637_638delinsGT |
p.Arg213Val |
Missense |
6/11 |
- |
1 |
17-7578211-C-T |
c.638G>A |
p.Arg213Gln |
Missense |
6/11 |
- |
56 |
17-7578211-C-G |
c.638G>C |
p.Arg213Pro |
Missense |
6/11 |
- |
7 |
17-7578211-C-A |
c.638G>T |
p.Arg213Leu |
Missense |
6/11 |
- |
19 |
17-7578210-T-G |
c.639A>C |
p.Arg213Arg |
Synonymous |
6/11 |
- |
33 |
17-7578212-CGAAAAGTGTTTC-C |
c.628_639del |
p.Asn210_Arg213del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578212-CGAAAAGTGTTTCTGTCATC-C |
c.621_639del |
p.Asp208Ilefs*33 |
Frameshift |
6/11 |
- |
1 |
17-7578212-G-T |
c.637C>A |
p.Arg213Arg |
Synonymous |
6/11 |
- |
33 |
17-7578212-G-C |
c.637C>G |
p.Arg213Gly |
Missense |
6/11 |
- |
8 |
17-7578212-G-A |
c.637C>T |
p.Arg213* |
Nonsense |
6/11 |
- |
134 |
17-7578213-A-G |
c.636T>C |
p.Phe212Phe |
Synonymous |
6/11 |
- |
1 |
17-7578215-A-G |
c.634T>C |
p.Phe212Leu |
Missense |
6/11 |
- |
1 |
17-7578215-A-C |
c.634T>G |
p.Phe212Val |
Missense |
6/11 |
- |
1 |
17-7578215-A-T |
c.634T>A |
p.Phe212Ile |
Missense |
6/11 |
- |
1 |
17-7578216-AGT-GAG |
c.631_633delinsCTC |
p.Thr211Leu |
Missense |
6/11 |
- |
1 |
17-7578216-A-T |
c.633T>A |
p.Thr211Thr |
Synonymous |
6/11 |
- |
1 |
17-7578216-A-G |
c.633T>C |
p.Thr211Thr |
Synonymous |
6/11 |
- |
1 |
17-7578216-A-C |
c.633T>G |
p.Thr211Thr |
Synonymous |
6/11 |
- |
1 |
17-7578216-AG-TG |
c.633delinsA |
p.Thr211Thr |
Missense |
6/11 |
- |
1 |
17-7578216-AA-A |
c.636del |
p.Arg213Aspfs*34 |
Frameshift |
6/11 |
- |
2 |
17-7578217-GT-CA |
c.631_632delinsTG |
p.Thr211Cys |
Missense |
6/11 |
- |
1 |
17-7578217-G-C |
c.632C>G |
p.Thr211Ser |
Missense |
6/11 |
- |
1 |
17-7578217-G-A |
c.632C>T |
p.Thr211Ile |
Missense |
6/11 |
- |
15 |
17-7578217-GT-GA |
c.631delinsT |
p.Thr211Ser |
Missense |
6/11 |
- |
1 |
17-7578218-T-A |
c.631A>T |
p.Thr211Ser |
Missense |
6/11 |
- |
1 |
17-7578218-T-TT |
c.631dup |
p.Thr211Asnfs*5 |
Frameshift |
6/11 |
- |
1 |
17-7578218-T-C |
c.631A>G |
p.Thr211Ala |
Missense |
6/11 |
- |
3 |
17-7578218-T-G |
c.631A>C |
p.Thr211Pro |
Missense |
6/11 |
- |
1 |
17-7578219-G-C |
c.630C>G |
p.Asn210Lys |
Missense |
6/11 |
- |
2 |
17-7578220-TT-GG |
c.628_629delinsCC |
p.Asn210Pro |
Missense |
6/11 |
- |
1 |
17-7578220-T-C |
c.629A>G |
p.Asn210Ser |
Missense |
6/11 |
- |
1 |
17-7578221-T-C |
c.628A>G |
p.Asn210Asp |
Missense |
6/11 |
- |
1 |
17-7578221-T-A |
c.628A>T |
p.Asn210Tyr |
Missense |
6/11 |
- |
2 |
17-7578221-T-TA |
c.627_628insT |
p.Asn210* |
Nonsense |
6/11 |
- |
2 |
17-7578222-TTCTGTCATCCAA-T |
c.616_627del |
p.Leu206_Arg209del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578222-T-G |
c.627A>C |
p.Arg209Ser |
Missense |
6/11 |
- |
2 |
17-7578222-T-A |
c.627A>T |
p.Arg209Ser |
Missense |
6/11 |
- |
2 |
17-7578222-TCT-TGG |
c.625_626delinsCC |
p.Arg209Pro |
Missense |
6/11 |
- |
3 |
17-7578223-C-T |
c.626G>A |
p.Arg209Lys |
Missense |
6/11 |
- |
8 |
17-7578223-CT-CC |
c.625delinsG |
p.Arg209Gly |
Missense |
6/11 |
- |
4 |
17-7578223-CT-CA |
c.625delinsT |
p.Arg209* |
Missense |
6/11 |
- |
5 |
17-7578223-C-G |
c.626G>C |
p.Arg209Thr |
Missense |
6/11 |
- |
3 |
17-7578223-C-A |
c.626G>T |
p.Arg209Ile |
Missense |
6/11 |
- |
1 |
17-7578223-TCT-T |
c.626_627del |
p.Arg209Lysfs*6 |
Frameshift |
6/11 |
- |
6 |
17-7578224-T-A |
c.625A>T |
p.Arg209* |
Nonsense |
6/11 |
- |
4 |
17-7578224-T-TA |
c.624_625insT |
p.Arg209* |
Nonsense |
6/11 |
- |
3 |
17-7578225-G-A |
c.624C>T |
p.Asp208Asp |
Synonymous |
6/11 |
- |
1 |
17-7578225-G-C |
c.624C>G |
p.Asp208Glu |
Missense |
6/11 |
- |
2 |
17-7578225-G-T |
c.624C>A |
p.Asp208Glu |
Missense |
6/11 |
- |
2 |
17-7578226-TC-AT |
c.622_623delinsAT |
p.Asp208Ile |
Missense |
6/11 |
- |
1 |
17-7578226-T-G |
c.623A>C |
p.Asp208Ala |
Missense |
6/11 |
- |
1 |
17-7578226-T-A |
c.623A>T |
p.Asp208Val |
Missense |
6/11 |
- |
4 |
17-7578226-T-C |
c.623A>G |
p.Asp208Gly |
Missense |
6/11 |
- |
1 |
17-7578227-C-T |
c.622G>A |
p.Asp208Asn |
Missense |
6/11 |
- |
2 |
17-7578227-C-A |
c.622G>T |
p.Asp208Tyr |
Missense |
6/11 |
- |
1 |
17-7578227-C-G |
c.622G>C |
p.Asp208His |
Missense |
6/11 |
- |
1 |
17-7578228-A-AA |
c.621dup |
p.Asp208* |
Nonsense |
6/11 |
- |
1 |
17-7578228-ATC-ATG |
c.619delinsC |
p.Asp207His |
Missense |
6/11 |
- |
1 |
17-7578228-A-T |
c.621T>A |
p.Asp207Glu |
Missense |
6/11 |
- |
1 |
17-7578228-A-C |
c.621T>G |
p.Asp207Glu |
Missense |
6/11 |
- |
1 |
17-7578229-T-C |
c.620A>G |
p.Asp207Gly |
Missense |
6/11 |
- |
2 |
17-7578229-T-G |
c.620A>C |
p.Asp207Ala |
Missense |
6/11 |
- |
1 |
17-7578229-T-A |
c.620A>T |
p.Asp207Val |
Missense |
6/11 |
- |
1 |
17-7578229-ATCCAAATACTCCACA-A |
c.608_622del |
p.Val203_Asp207del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578230-C-T |
c.619G>A |
p.Asp207Asn |
Missense |
6/11 |
- |
1 |
17-7578232-AA-AG |
c.616delinsC |
p.Leu206Leu |
Missense |
6/11 |
- |
1 |
17-7578232-AA-CC |
c.616_617delinsGG |
p.Leu206Gly |
Missense |
6/11 |
- |
1 |
17-7578232-A-T |
c.617T>A |
p.Leu206* |
Nonsense |
6/11 |
- |
1 |
17-7578232-A-C |
c.617T>G |
p.Leu206Trp |
Missense |
6/11 |
- |
1 |
17-7578234-A-T |
c.615T>A |
p.Tyr205* |
Nonsense |
6/11 |
- |
1 |
17-7578234-A-C |
c.615T>G |
p.Tyr205* |
Nonsense |
6/11 |
- |
1 |
17-7578234-A-G |
c.615T>C |
p.Tyr205Tyr |
Synonymous |
6/11 |
- |
1 |
17-7578235-T-C |
c.614A>G |
p.Tyr205Cys |
Missense |
6/11 |
- |
42 |
17-7578235-ATA-A |
c.614_615del |
p.Tyr205Phefs*3 |
Frameshift |
6/11 |
- |
1 |
17-7578235-T-G |
c.614A>C |
p.Tyr205Ser |
Missense |
6/11 |
- |
3 |
17-7578235-T-A |
c.614A>T |
p.Tyr205Phe |
Missense |
6/11 |
- |
7 |
17-7578236-A-C |
c.613T>G |
p.Tyr205Asp |
Missense |
6/11 |
- |
14 |
17-7578236-A-AT |
c.612_613insA |
p.Tyr205Ilefs*4 |
Frameshift |
6/11 |
- |
2 |
17-7578236-A-G |
c.613T>C |
p.Tyr205His |
Missense |
6/11 |
- |
6 |
17-7578238-CTCC-C |
c.610_612del |
p.Glu204del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578238-T-C |
c.611A>G |
p.Glu204Gly |
Missense |
6/11 |
- |
2 |
17-7578238-T-G |
c.611A>C |
p.Glu204Ala |
Missense |
6/11 |
- |
1 |
17-7578239-C-T |
c.610G>A |
p.Glu204Lys |
Missense |
6/11 |
- |
2 |
17-7578239-C-A |
c.610G>T |
p.Glu204* |
Nonsense |
6/11 |
- |
23 |
17-7578240-CAC-ATC |
c.608_609delinsAT |
p.Val203Asp |
Missense |
6/11 |
- |
1 |
17-7578240-CC-C |
c.610del |
p.Glu204Serfs*43 |
Frameshift |
6/11 |
- |
1 |
17-7578241-A-T |
c.608T>A |
p.Val203Glu |
Missense |
6/11 |
- |
1 |
17-7578241-A-G |
c.608T>C |
p.Val203Ala |
Missense |
6/11 |
- |
13 |
17-7578242-C-A |
c.607G>T |
p.Val203Leu |
Missense |
6/11 |
- |
6 |
17-7578242-C-T |
c.607G>A |
p.Val203Met |
Missense |
6/11 |
- |
6 |
17-7578243-CACGCAAATTTCCTTCCAC-C |
c.594_611del |
p.Gly199_Glu204del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578243-A-G |
c.606T>C |
p.Arg202Arg |
Synonymous |
6/11 |
- |
2 |
17-7578244-C-T |
c.605G>A |
p.Arg202His |
Missense |
6/11 |
- |
4 |
17-7578244-CG-GT |
c.604_605delinsAC |
p.Arg202Thr |
Missense |
6/11 |
- |
1 |
17-7578244-CG-GC |
c.604_605delinsGC |
p.Arg202Ala |
Missense |
6/11 |
- |
1 |
17-7578244-C-A |
c.605G>T |
p.Arg202Leu |
Missense |
6/11 |
- |
3 |
17-7578245-G-A |
c.604C>T |
p.Arg202Cys |
Missense |
6/11 |
- |
4 |
17-7578245-G-T |
c.604C>A |
p.Arg202Ser |
Missense |
6/11 |
- |
3 |
17-7578246-C-CC |
c.603dup |
p.Arg202Alafs*7 |
Frameshift |
6/11 |
- |
1 |
17-7578247-A-T |
c.602T>A |
p.Leu201* |
Nonsense |
6/11 |
- |
4 |
17-7578248-AAA-A |
c.601_602del |
p.Leu201Alafs*7 |
Frameshift |
6/11 |
- |
1 |
17-7578249-A-C |
c.600T>G |
p.Asn200Lys |
Missense |
6/11 |
- |
1 |
17-7578249-A-T |
c.600T>A |
p.Asn200Lys |
Missense |
6/11 |
- |
1 |
17-7578249-AATTTC-A |
c.596_600del |
p.Gly199Valfs*8 |
Frameshift |
6/11 |
- |
1 |
17-7578249-AA-A |
c.602del |
p.Leu201Cysfs*46 |
Frameshift |
6/11 |
- |
1 |
17-7578250-T-C |
c.599A>G |
p.Asn200Ser |
Missense |
6/11 |
- |
1 |
17-7578250-T-A |
c.599A>T |
p.Asn200Ile |
Missense |
6/11 |
- |
1 |
17-7578252-T-A |
c.597A>T |
p.Gly199Gly |
Synonymous |
6/11 |
- |
2 |
17-7578252-T-C |
c.597A>G |
p.Gly199Gly |
Synonymous |
6/11 |
- |
2 |
17-7578252-T-G |
c.597A>C |
p.Gly199Gly |
Synonymous |
6/11 |
- |
2 |
17-7578253-C-A |
c.596G>T |
p.Gly199Val |
Missense |
6/11 |
- |
12 |
17-7578253-C-T |
c.596G>A |
p.Gly199Glu |
Missense |
6/11 |
- |
6 |
17-7578254-C-T |
c.595G>A |
p.Gly199Arg |
Missense |
6/11 |
- |
5 |
17-7578255-T-A |
c.594A>T |
p.Glu198Asp |
Missense |
6/11 |
- |
1 |
17-7578255-T-G |
c.594A>C |
p.Glu198Asp |
Missense |
6/11 |
- |
1 |
17-7578256-T-C |
c.593A>G |
p.Glu198Gly |
Missense |
6/11 |
- |
2 |
17-7578257-C-A |
c.592G>T |
p.Glu198* |
Nonsense |
6/11 |
- |
5 |
17-7578257-C-T |
c.592G>A |
p.Glu198Lys |
Missense |
6/11 |
- |
2 |
17-7578259-A-C |
c.590T>G |
p.Val197Gly |
Missense |
6/11 |
- |
4 |
17-7578259-A-T |
c.590T>A |
p.Val197Glu |
Missense |
6/11 |
- |
3 |
17-7578259-AC-AG |
c.589delinsC |
p.Val197Leu |
Missense |
6/11 |
- |
1 |
17-7578259-AC-CT |
c.589_590delinsAG |
p.Val197Arg |
Missense |
6/11 |
- |
1 |
17-7578260-C-T |
c.589G>A |
p.Val197Met |
Missense |
6/11 |
- |
8 |
17-7578260-C-A |
c.589G>T |
p.Val197Leu |
Missense |
6/11 |
- |
1 |
17-7578260-C-G |
c.589G>C |
p.Val197Leu |
Missense |
6/11 |
- |
1 |
17-7578261-CTCGGAT-C |
c.583_588del |
p.Ile195_Arg196del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578262-CG-GC |
c.586_587delinsGC |
p.Arg196Ala |
Missense |
6/11 |
- |
1 |
17-7578262-C-T |
c.587G>A |
p.Arg196Gln |
Missense |
6/11 |
- |
13 |
17-7578262-C-A |
c.587G>T |
p.Arg196Leu |
Missense |
6/11 |
- |
3 |
17-7578262-C-G |
c.587G>C |
p.Arg196Pro |
Missense |
6/11 |
- |
7 |
17-7578262-CG-GA |
c.586_587delinsTC |
p.Arg196Ser |
Missense |
6/11 |
- |
1 |
17-7578263-G-C |
c.586C>G |
p.Arg196Gly |
Missense |
6/11 |
- |
2 |
17-7578263-G-A |
c.586C>T |
p.Arg196* |
Nonsense |
6/11 |
- |
91 |
17-7578264-G-A |
c.585C>T |
p.Ile195Ile |
Synonymous |
6/11 |
- |
1 |
17-7578264-G-T |
c.585C>A |
p.Ile195Ile |
Synonymous |
6/11 |
- |
1 |
17-7578264-G-C |
c.585C>G |
p.Ile195Met |
Missense |
6/11 |
- |
1 |
17-7578265-A-T |
c.584T>A |
p.Ile195Asn |
Missense |
6/11 |
- |
8 |
17-7578265-A-G |
c.584T>C |
p.Ile195Thr |
Missense |
6/11 |
- |
64 |
17-7578266-T-A |
c.583A>T |
p.Ile195Phe |
Missense |
6/11 |
- |
13 |
17-7578266-T-C |
c.583A>G |
p.Ile195Val |
Missense |
6/11 |
- |
2 |
17-7578266-T-G |
c.583A>C |
p.Ile195Leu |
Missense |
6/11 |
- |
3 |
17-7578267-A-G |
c.582T>C |
p.Leu194Leu |
Synonymous |
6/11 |
- |
1 |
17-7578268-A-T |
c.581T>A |
p.Leu194His |
Missense |
6/11 |
- |
6 |
17-7578268-A-C |
c.581T>G |
p.Leu194Arg |
Missense |
6/11 |
- |
36 |
17-7578268-A-G |
c.581T>C |
p.Leu194Pro |
Missense |
6/11 |
- |
5 |
17-7578269-G-A |
c.580C>T |
p.Leu194Phe |
Missense |
6/11 |
- |
70 |
17-7578269-G-T |
c.580C>A |
p.Leu194Ile |
Missense |
6/11 |
- |
1 |
17-7578269-G-C |
c.580C>G |
p.Leu194Val |
Missense |
6/11 |
- |
1 |
17-7578270-A-T |
c.579T>A |
p.His193Gln |
Missense |
6/11 |
- |
1 |
17-7578270-A-C |
c.579T>G |
p.His193Gln |
Missense |
6/11 |
- |
1 |
17-7578271-T-G |
c.578A>C |
p.His193Pro |
Missense |
6/11 |
- |
11 |
17-7578271-TG-GC |
c.577_578delinsGC |
p.His193Ala |
Missense |
6/11 |
- |
2 |
17-7578271-ATGCTGA-A |
c.575_580del |
p.Gln192_His193del |
InFrameDeletion |
6/11 |
- |
1 |
17-7578271-TG-AC |
c.577_578delinsGT |
p.His193Val |
Missense |
6/11 |
- |
1 |
17-7578271-T-A |
c.578A>T |
p.His193Leu |
Missense |
6/11 |
- |
30 |
17-7578271-T-C |
c.578A>G |
p.His193Arg |
Missense |
6/11 |
- |
72 |
17-7578271-AT-A |
c.578del |
p.His193Leufs*54 |
Frameshift |
6/11 |
- |
1 |
17-7578272-G-A |
c.577C>T |
p.His193Tyr |
Missense |
6/11 |
- |
28 |
17-7578272-G-C |
c.577C>G |
p.His193Asp |
Missense |
6/11 |
- |
2 |
17-7578272-G-T |
c.577C>A |
p.His193Asn |
Missense |
6/11 |
- |
3 |
17-7578272-GC-TG |
c.576_577delinsCA |
p.Gln192_His193delinsHisAsn |
MultiAAMissense |
6/11 |
- |
1 |
17-7578273-C-G |
c.576G>C |
p.Gln192His |
Missense |
6/11 |
- |
3 |
17-7578274-T-C |
c.575A>G |
p.Gln192Arg |
Missense |
6/11 |
- |
1 |
17-7578274-T-A |
c.575A>T |
p.Gln192Leu |
Missense |
6/11 |
- |
2 |
17-7578275-G-A |
c.574C>T |
p.Gln192* |
Nonsense |
6/11 |
- |
35 |
17-7578276-A-AA |
c.573dup |
p.Gln192Serfs*17 |
Frameshift |
6/11 |
- |
1 |
17-7578277-G-C |
c.572C>G |
p.Pro191Arg |
Missense |
6/11 |
- |
1 |
17-7578277-AGGAGGGGCCAGACCTAAGAGCAATCAGTGAGGAATCAGAGGCCTGGGGACCCTGGGCAA-A |
c.559+37_573del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
6/11 |
5/10 |
1 |
17-7578279-GAGG-G |
c.572_574del |
p.Pro191del |
InFrameDeletion |
6/11 |
- |
5 |
17-7578280-G-C |
c.569C>G |
p.Pro190Arg |
Missense |
6/11 |
- |
2 |
17-7578280-G-A |
c.569C>T |
p.Pro190Leu |
Missense |
6/11 |
- |
20 |
17-7578281-G-C |
c.568C>G |
p.Pro190Ala |
Missense |
6/11 |
- |
5 |
17-7578281-G-T |
c.568C>A |
p.Pro190Thr |
Missense |
6/11 |
- |
6 |
17-7578281-G-A |
c.568C>T |
p.Pro190Ser |
Missense |
6/11 |
- |
5 |
17-7578282-G-A |
c.567C>T |
p.Ala189Ala |
Synonymous |
6/11 |
- |
1 |
17-7578282-G-C |
c.567C>G |
p.Ala189Ala |
Synonymous |
6/11 |
- |
1 |
17-7578282-G-T |
c.567C>A |
p.Ala189Ala |
Synonymous |
6/11 |
- |
1 |
17-7578283-G-A |
c.566C>T |
p.Ala189Val |
Missense |
6/11 |
- |
11 |
17-7578284-C-G |
c.565G>C |
p.Ala189Pro |
Missense |
6/11 |
- |
1 |
17-7578284-C-A |
c.565G>T |
p.Ala189Ser |
Missense |
6/11 |
- |
1 |
17-7578284-C-T |
c.565G>A |
p.Ala189Thr |
Missense |
6/11 |
- |
1 |
17-7578285-C-G |
c.564G>C |
p.Leu188Leu |
Synonymous |
6/11 |
- |
1 |
17-7578285-C-A |
c.564G>T |
p.Leu188Leu |
Synonymous |
6/11 |
- |
1 |
17-7578285-C-T |
c.564G>A |
p.Leu188Leu |
Synonymous |
6/11 |
- |
1 |
17-7578285-CAG-GAC |
c.562_564delinsGTC |
p.Leu188Val |
Missense |
6/11 |
- |
1 |
17-7578287-G-A |
c.562C>T |
p.Leu188Leu |
Synonymous |
6/11 |
- |
1 |
17-7578286-AG-TA |
c.562_563delinsTA |
p.Leu188* |
Missense |
6/11 |
- |
1 |
17-7578286-A-G |
c.563T>C |
p.Leu188Pro |
Missense |
6/11 |
- |
2 |
17-7578286-A-T |
c.563T>A |
p.Leu188Gln |
Missense |
6/11 |
- |
1 |
17-7578287-G-T |
c.562C>A |
p.Leu188Met |
Missense |
6/11 |
- |
2 |
17-7578289-C-T |
c.560G>A |
p.Gly187Asp |
Missense |
6/11 |
- |
2 |
17-7578290-C-G |
c.560-1G>C |
- |
IntronicSNV |
- |
5/10 |
1 |
17-7578290-C-T |
c.560-1G>A |
- |
IntronicSNV |
- |
5/10 |
2 |
17-7578290-C-A |
c.560-1G>T |
- |
IntronicSNV |
- |
5/10 |
1 |
17-7578291-T-C |
c.560-2A>G |
- |
IntronicSNV |
- |
5/10 |
1 |
17-7578291-CTAAGAG-C |
c.560-7_560-2del |
- |
IntronicDeletion |
- |
5/10 |
1 |
17-7578304-GTGAGGAATCAG-G |
c.560-19_560-9del |
- |
IntronicDeletion |
- |
5/10 |
1 |
17-7578370-C-T |
c.559+1G>A |
- |
IntronicSNV |
- |
5/10 |
5 |
17-7578370-C-A |
c.559+1G>T |
- |
IntronicSNV |
- |
5/10 |
2 |
17-7578371-CC-C |
c.559+1del |
- |
IntronicDeletion |
5/11 |
- |
1 |
17-7578371-C-CT |
c.558_559insA |
p.Gly187Argfs*22 |
SpliceDonorInsertion |
5/11 |
- |
1 |
17-7578371-C-T |
c.559G>A |
p.Gly187Ser |
Missense |
5/11 |
- |
7 |
17-7578371-C-CG |
c.558_559insC |
p.Gly187Argfs*22 |
SpliceDonorInsertion |
5/11 |
- |
1 |
17-7578372-A-AA |
c.558dup |
p.Gly187Trpfs*22 |
SpliceDonorInsertion |
5/11 |
- |
1 |
17-7578372-A-G |
c.558T>C |
p.Asp186Asp |
Synonymous |
5/11 |
- |
1 |
17-7578372-A-T |
c.558T>A |
p.Asp186Glu |
Missense |
5/11 |
- |
2 |
17-7578373-T-G |
c.557A>C |
p.Asp186Ala |
Missense |
5/11 |
- |
5 |
17-7578373-T-C |
c.557A>G |
p.Asp186Gly |
Missense |
5/11 |
- |
1 |
17-7578374-C-T |
c.556G>A |
p.Asp186Asn |
Missense |
5/11 |
- |
1 |
17-7578375-G-C |
c.555C>G |
p.Ser185Arg |
Missense |
5/11 |
- |
1 |
17-7578375-G-A |
c.555C>T |
p.Ser185Ser |
Synonymous |
5/11 |
- |
2 |
17-7578376-C-T |
c.554G>A |
p.Ser185Asn |
Missense |
5/11 |
- |
3 |
17-7578377-T-C |
c.553A>G |
p.Ser185Gly |
Missense |
5/11 |
- |
1 |
17-7578377-T-A |
c.553A>T |
p.Ser185Cys |
Missense |
5/11 |
- |
1 |
17-7578378-A-AA |
c.552dup |
p.Ser185* |
Nonsense |
5/11 |
- |
1 |
17-7578378-ATC-TAA |
c.550_552delinsTTA |
p.Asp184Leu |
Nonsense |
5/11 |
- |
1 |
17-7578378-TATCT-T |
c.551_554del |
p.Asp184Alafs*62 |
Frameshift |
5/11 |
- |
1 |
17-7578379-T-G |
c.551A>C |
p.Asp184Ala |
Missense |
5/11 |
- |
1 |
17-7578379-T-C |
c.551A>G |
p.Asp184Gly |
Missense |
5/11 |
- |
1 |
17-7578380-C-T |
c.550G>A |
p.Asp184Asn |
Missense |
5/11 |
- |
6 |
17-7578380-C-A |
c.550G>T |
p.Asp184Tyr |
Missense |
5/11 |
- |
1 |
17-7578380-C-G |
c.550G>C |
p.Asp184His |
Missense |
5/11 |
- |
2 |
17-7578380-C-CA |
c.549_550insT |
p.Asp184* |
Nonsense |
5/11 |
- |
1 |
17-7578382-G-T |
c.548C>A |
p.Ser183* |
Nonsense |
5/11 |
- |
12 |
17-7578382-G-A |
c.548C>T |
p.Ser183Leu |
Missense |
5/11 |
- |
3 |
17-7578382-G-C |
c.548C>G |
p.Ser183* |
Nonsense |
5/11 |
- |
15 |
17-7578383-A-C |
c.547T>G |
p.Ser183Ala |
Missense |
5/11 |
- |
4 |
17-7578383-GAG-G |
c.547_548del |
p.Ser183Argfs*2 |
Frameshift |
5/11 |
- |
1 |
17-7578384-G-T |
c.546C>A |
p.Cys182* |
Nonsense |
5/11 |
- |
2 |
17-7578384-G-A |
c.546C>T |
p.Cys182Cys |
Synonymous |
5/11 |
- |
1 |
17-7578385-CA-AC |
c.544_545delinsGT |
p.Cys182Val |
Missense |
5/11 |
- |
3 |
17-7578385-CA-GC |
c.544_545delinsGC |
p.Cys182Ala |
Missense |
5/11 |
- |
3 |
17-7578385-C-T |
c.545G>A |
p.Cys182Tyr |
Missense |
5/11 |
- |
3 |
17-7578386-CAGC-C |
c.545_547del |
p.Cys182del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578386-A-T |
c.544T>A |
p.Cys182Ser |
Missense |
5/11 |
- |
9 |
17-7578386-A-C |
c.544T>G |
p.Cys182Gly |
Missense |
5/11 |
- |
1 |
17-7578385-C-G |
c.545G>C |
p.Cys182Ser |
Missense |
5/11 |
- |
9 |
17-7578387-AGCGCTCATGGTGGGGGCAGCGCCTCA-A |
c.520_545del |
p.Arg174Leufs*3 |
Frameshift |
5/11 |
- |
1 |
17-7578388-C-T |
c.542G>A |
p.Arg181His |
Missense |
5/11 |
- |
25 |
17-7578388-C-A |
c.542G>T |
p.Arg181Leu |
Missense |
5/11 |
- |
11 |
17-7578388-C-G |
c.542G>C |
p.Arg181Pro |
Missense |
5/11 |
- |
11 |
17-7578388-CG-GC |
c.541_542delinsGC |
p.Arg181Ala |
Missense |
5/11 |
- |
1 |
17-7578388-CG-TA |
c.541_542delinsTA |
p.Arg181Tyr |
Missense |
5/11 |
- |
1 |
17-7578389-G-T |
c.541C>A |
p.Arg181Ser |
Missense |
5/11 |
- |
1 |
17-7578389-G-A |
c.541C>T |
p.Arg181Cys |
Missense |
5/11 |
- |
27 |
17-7578391-CTCATGGTGGGGGCAGCGC-C |
c.529_546del |
p.Pro177_Cys182del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578391-TC-AG |
c.538_539delinsCT |
p.Glu180Leu |
Missense |
5/11 |
- |
7 |
17-7578391-T-C |
c.539A>G |
p.Glu180Gly |
Missense |
5/11 |
- |
2 |
17-7578391-T-G |
c.539A>C |
p.Glu180Ala |
Missense |
5/11 |
- |
2 |
17-7578392-C-T |
c.538G>A |
p.Glu180Lys |
Missense |
5/11 |
- |
11 |
17-7578392-C-A |
c.538G>T |
p.Glu180* |
Nonsense |
5/11 |
- |
6 |
17-7578393-CATG-C |
c.535_537del |
p.His179del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578393-A-T |
c.537T>A |
p.His179Gln |
Missense |
5/11 |
- |
24 |
17-7578393-A-G |
c.537T>C |
p.His179His |
Synonymous |
5/11 |
- |
2 |
17-7578393-A-C |
c.537T>G |
p.His179Gln |
Missense |
5/11 |
- |
24 |
17-7578393-ATG-TAA |
c.535_537delinsTTA |
p.His179Leu |
Nonsense |
5/11 |
- |
2 |
17-7578393-ATG-GAG |
c.536_537delinsTC |
p.His179Leu |
Missense |
5/11 |
- |
1 |
17-7578394-T-C |
c.536A>G |
p.His179Arg |
Missense |
5/11 |
- |
116 |
17-7578394-T-A |
c.536A>T |
p.His179Leu |
Missense |
5/11 |
- |
22 |
17-7578394-T-G |
c.536A>C |
p.His179Pro |
Missense |
5/11 |
- |
8 |
17-7578395-G-T |
c.535C>A |
p.His179Asn |
Missense |
5/11 |
- |
10 |
17-7578395-G-A |
c.535C>T |
p.His179Tyr |
Missense |
5/11 |
- |
65 |
17-7578395-G-C |
c.535C>G |
p.His179Asp |
Missense |
5/11 |
- |
4 |
17-7578396-G-C |
c.534C>G |
p.His178Gln |
Missense |
5/11 |
- |
4 |
17-7578397-TG-GC |
c.532_533delinsGC |
p.His178Ala |
Missense |
5/11 |
- |
3 |
17-7578397-T-A |
c.533A>T |
p.His178Leu |
Missense |
5/11 |
- |
1 |
17-7578397-T-G |
c.533A>C |
p.His178Pro |
Missense |
5/11 |
- |
3 |
17-7578398-G-T |
c.532C>A |
p.His178Asn |
Missense |
5/11 |
- |
1 |
17-7578398-G-A |
c.532C>T |
p.His178Tyr |
Missense |
5/11 |
- |
12 |
17-7578398-G-C |
c.532C>G |
p.His178Asp |
Missense |
5/11 |
- |
12 |
17-7578400-G-A |
c.530C>T |
p.Pro177Leu |
Missense |
5/11 |
- |
14 |
17-7578400-GG-GT |
c.529delinsA |
p.Pro177Thr |
Missense |
5/11 |
- |
1 |
17-7578400-G-C |
c.530C>G |
p.Pro177Arg |
Missense |
5/11 |
- |
13 |
17-7578400-G-T |
c.530C>A |
p.Pro177His |
Missense |
5/11 |
- |
1 |
17-7578400-GGGGCAGCGCCTCACAACCTCCGTC-G |
c.507_530del |
p.Met169_Pro177delinsIle |
MultiAAMissense |
5/11 |
- |
1 |
17-7578400-GGGGCAGCGCCTCACAACCTCCGTCATG-G |
c.505_531del |
p.Met169_Pro177del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578401-G-T |
c.529C>A |
p.Pro177Thr |
Missense |
5/11 |
- |
5 |
17-7578401-G-A |
c.529C>T |
p.Pro177Ser |
Missense |
5/11 |
- |
5 |
17-7578402-GGCAGCG-G |
c.524_529del |
p.Arg175_Cys176del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578402-G-T |
c.528C>A |
p.Cys176* |
Nonsense |
5/11 |
- |
1 |
17-7578402-G-C |
c.528C>G |
p.Cys176Trp |
Missense |
5/11 |
- |
7 |
17-7578403-C-A |
c.527G>T |
p.Cys176Phe |
Missense |
5/11 |
- |
98 |
17-7578403-C-T |
c.527G>A |
p.Cys176Tyr |
Missense |
5/11 |
- |
52 |
17-7578403-CA-GC |
c.526_527delinsGC |
p.Cys176Ala |
Missense |
5/11 |
- |
1 |
17-7578403-CA-AC |
c.526_527delinsGT |
p.Cys176Val |
Missense |
5/11 |
- |
1 |
17-7578404-A-T |
c.526T>A |
p.Cys176Ser |
Missense |
5/11 |
- |
21 |
17-7578404-A-C |
c.526T>G |
p.Cys176Gly |
Missense |
5/11 |
- |
3 |
17-7578404-A-G |
c.526T>C |
p.Cys176Arg |
Missense |
5/11 |
- |
6 |
17-7578403-C-G |
c.527G>C |
p.Cys176Ser |
Missense |
5/11 |
- |
20 |
17-7578405-G-T |
c.525C>A |
p.Arg175Arg |
Synonymous |
5/11 |
- |
5 |
17-7578405-AGCGCCTCAC-A |
c.517_525del |
p.Val173_Arg175del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578405-GCG-TGG |
c.524_525delinsCA |
p.Arg175Pro |
Missense |
5/11 |
- |
1 |
17-7578406-C-G |
c.524G>C |
p.Arg175Pro |
Missense |
5/11 |
- |
35 |
17-7578406-C-T |
c.524G>A |
p.Arg175His |
Missense |
5/11 |
- |
1362 |
17-7578406-C-A |
c.524G>T |
p.Arg175Leu |
Missense |
5/11 |
- |
26 |
17-7578406-CG-TA |
c.523_524delinsTA |
p.Arg175Tyr |
Missense |
5/11 |
- |
1 |
17-7578406-CG-GC |
c.523_524delinsGC |
p.Arg175Ala |
Missense |
5/11 |
- |
4 |
17-7578407-G-A |
c.523C>T |
p.Arg175Cys |
Missense |
5/11 |
- |
23 |
17-7578407-G-C |
c.523C>G |
p.Arg175Gly |
Missense |
5/11 |
- |
22 |
17-7578407-G-T |
c.523C>A |
p.Arg175Ser |
Missense |
5/11 |
- |
8 |
17-7578407-CGCCTCACAACC-C |
c.514_524del |
p.Val172Leufs*5 |
Frameshift |
5/11 |
- |
1 |
17-7578407-CGCCTCACAACCTCCGTCATGTGC-C |
c.503_525del |
p.His168Leufs*5 |
Frameshift |
5/11 |
- |
1 |
17-7578408-C-G |
c.522G>C |
p.Arg174Ser |
Missense |
5/11 |
- |
3 |
17-7578408-C-A |
c.522G>T |
p.Arg174Ser |
Missense |
5/11 |
- |
3 |
17-7578408-CCT-CAT |
c.521delinsT |
p.Arg174Met |
Missense |
5/11 |
- |
2 |
17-7578409-CT-TA |
c.520_521delinsTA |
p.Arg174* |
Nonsense |
5/11 |
- |
4 |
17-7578409-CT-GA |
c.520_521delinsTC |
p.Arg174Ser |
Missense |
5/11 |
- |
1 |
17-7578409-C-T |
c.521G>A |
p.Arg174Lys |
Missense |
5/11 |
- |
13 |
17-7578409-CT-GC |
c.520_521delinsGC |
p.Arg174Ala |
Missense |
5/11 |
- |
4 |
17-7578410-T-A |
c.520A>T |
p.Arg174Trp |
Missense |
5/11 |
- |
5 |
17-7578410-T-C |
c.520A>G |
p.Arg174Gly |
Missense |
5/11 |
- |
1 |
17-7578411-CAC-ATC |
c.518_519delinsAT |
p.Val173Asp |
Missense |
5/11 |
- |
1 |
17-7578412-A-C |
c.518T>G |
p.Val173Gly |
Missense |
5/11 |
- |
8 |
17-7578412-A-T |
c.518T>A |
p.Val173Glu |
Missense |
5/11 |
- |
5 |
17-7578412-A-G |
c.518T>C |
p.Val173Ala |
Missense |
5/11 |
- |
14 |
17-7578413-C-A |
c.517G>T |
p.Val173Leu |
Missense |
5/11 |
- |
44 |
17-7578413-C-T |
c.517G>A |
p.Val173Met |
Missense |
5/11 |
- |
45 |
17-7578414-A-C |
c.516T>G |
p.Val172Val |
Synonymous |
5/11 |
- |
2 |
17-7578415-A-G |
c.515T>C |
p.Val172Ala |
Missense |
5/11 |
- |
2 |
17-7578415-A-T |
c.515T>A |
p.Val172Asp |
Missense |
5/11 |
- |
2 |
17-7578416-C-A |
c.514G>T |
p.Val172Phe |
Missense |
5/11 |
- |
21 |
17-7578416-C-T |
c.514G>A |
p.Val172Ile |
Missense |
5/11 |
- |
3 |
17-7578418-T-C |
c.512A>G |
p.Glu171Gly |
Missense |
5/11 |
- |
1 |
17-7578418-TC-AG |
c.511_512delinsCT |
p.Glu171Leu |
Missense |
5/11 |
- |
1 |
17-7578418-T-G |
c.512A>C |
p.Glu171Ala |
Missense |
5/11 |
- |
2 |
17-7578419-C-A |
c.511G>T |
p.Glu171* |
Nonsense |
5/11 |
- |
12 |
17-7578419-C-T |
c.511G>A |
p.Glu171Lys |
Missense |
5/11 |
- |
6 |
17-7578420-CGT-TGT |
c.510delinsA |
p.Thr170Thr |
Missense |
5/11 |
- |
1 |
17-7578420-C-A |
c.510G>T |
p.Thr170Thr |
Synonymous |
5/11 |
- |
1 |
17-7578420-C-G |
c.510G>C |
p.Thr170Thr |
Synonymous |
5/11 |
- |
1 |
17-7578420-C-T |
c.510G>A |
p.Thr170Thr |
Synonymous |
5/11 |
- |
1 |
17-7578421-G-A |
c.509C>T |
p.Thr170Met |
Missense |
5/11 |
- |
4 |
17-7578423-C-T |
c.507G>A |
p.Met169Ile |
Missense |
5/11 |
- |
5 |
17-7578423-CAT-TGT |
c.506_507delinsCA |
p.Met169Thr |
Missense |
5/11 |
- |
1 |
17-7578424-A-G |
c.506T>C |
p.Met169Thr |
Missense |
5/11 |
- |
1 |
17-7578424-CATGTGCTGTGAC-C |
c.496_507del |
p.Ser166_Met169del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578426-TG-T |
c.504del |
p.His168Glnfs*2 |
Frameshift |
5/11 |
- |
1 |
17-7578426-G-A |
c.504C>T |
p.His168His |
Synonymous |
5/11 |
- |
1 |
17-7578426-G-T |
c.504C>A |
p.His168Gln |
Missense |
5/11 |
- |
2 |
17-7578426-GTG-AAGATA |
c.502_504delinsTATCTT |
p.His168delinsTyrLeu |
MultiAAMissense |
5/11 |
- |
1 |
17-7578427-T-C |
c.503A>G |
p.His168Arg |
Missense |
5/11 |
- |
28 |
17-7578427-T-A |
c.503A>T |
p.His168Leu |
Missense |
5/11 |
- |
3 |
17-7578427-TGCTG-AGGTA |
c.499_503delinsTACCT |
p.Gln167_His168delinsTyrLeu |
MultiAAMissense |
5/11 |
- |
1 |
17-7578427-TG-GT |
c.502_503delinsAC |
p.His168Thr |
Missense |
5/11 |
- |
1 |
17-7578427-T-G |
c.503A>C |
p.His168Pro |
Missense |
5/11 |
- |
8 |
17-7578428-G-T |
c.502C>A |
p.His168Asn |
Missense |
5/11 |
- |
1 |
17-7578428-G-A |
c.502C>T |
p.His168Tyr |
Missense |
5/11 |
- |
6 |
17-7578429-C-CC |
c.501dup |
p.His168Alafs*13 |
Frameshift |
5/11 |
- |
1 |
17-7578429-C-T |
c.501G>A |
p.Gln167Gln |
Synonymous |
5/11 |
- |
2 |
17-7578429-C-A |
c.501G>T |
p.Gln167His |
Missense |
5/11 |
- |
1 |
17-7578429-C-G |
c.501G>C |
p.Gln167His |
Missense |
5/11 |
- |
1 |
17-7578430-T-A |
c.500A>T |
p.Gln167Leu |
Missense |
5/11 |
- |
1 |
17-7578431-G-A |
c.499C>T |
p.Gln167* |
Nonsense |
5/11 |
- |
10 |
17-7578432-GTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGCC-G |
c.460_498del |
p.Gly154_Ser166del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578432-TGA-AAC |
c.496_498delinsGTT |
p.Ser166Val |
Missense |
5/11 |
- |
1 |
17-7578432-T-C |
c.498A>G |
p.Ser166Ser |
Synonymous |
5/11 |
- |
1 |
17-7578432-T-A |
c.498A>T |
p.Ser166Ser |
Synonymous |
5/11 |
- |
1 |
17-7578432-T-G |
c.498A>C |
p.Ser166Ser |
Synonymous |
5/11 |
- |
1 |
17-7578433-G-A |
c.497C>T |
p.Ser166Leu |
Missense |
5/11 |
- |
3 |
17-7578433-G-T |
c.497C>A |
p.Ser166* |
Nonsense |
5/11 |
- |
13 |
17-7578433-GA-CC |
c.496_497delinsGG |
p.Ser166Gly |
Missense |
5/11 |
- |
1 |
17-7578433-G-C |
c.497C>G |
p.Ser166* |
Nonsense |
5/11 |
- |
10 |
17-7578434-A-ATTGCTTATA |
c.496_497insATAAGCAAT |
p.Tyr163_Gln165dup |
InFrameInsertion |
5/11 |
- |
1 |
17-7578434-A-G |
c.496T>C |
p.Ser166Pro |
Missense |
5/11 |
- |
1 |
17-7578434-A-C |
c.496T>G |
p.Ser166Ala |
Missense |
5/11 |
- |
10 |
17-7578435-C-G |
c.495G>C |
p.Gln165His |
Missense |
5/11 |
- |
1 |
17-7578436-T-G |
c.494A>C |
p.Gln165Pro |
Missense |
5/11 |
- |
1 |
17-7578437-G-T |
c.493C>A |
p.Gln165Lys |
Missense |
5/11 |
- |
2 |
17-7578437-G-A |
c.493C>T |
p.Gln165* |
Nonsense |
5/11 |
- |
18 |
17-7578438-C-G |
c.492G>C |
p.Lys164Asn |
Missense |
5/11 |
- |
4 |
17-7578439-T-C |
c.491A>G |
p.Lys164Arg |
Missense |
5/11 |
- |
10 |
17-7578439-T-G |
c.491A>C |
p.Lys164Thr |
Missense |
5/11 |
- |
2 |
17-7578440-T-G |
c.490A>C |
p.Lys164Gln |
Missense |
5/11 |
- |
1 |
17-7578440-T-C |
c.490A>G |
p.Lys164Glu |
Missense |
5/11 |
- |
7 |
17-7578440-T-A |
c.490A>T |
p.Lys164* |
Nonsense |
5/11 |
- |
6 |
17-7578441-G-A |
c.489C>T |
p.Tyr163Tyr |
Synonymous |
5/11 |
- |
1 |
17-7578441-G-C |
c.489C>G |
p.Tyr163* |
Nonsense |
5/11 |
- |
6 |
17-7578442-T-G |
c.488A>C |
p.Tyr163Ser |
Missense |
5/11 |
- |
3 |
17-7578442-T-C |
c.488A>G |
p.Tyr163Cys |
Missense |
5/11 |
- |
82 |
17-7578442-T-A |
c.488A>T |
p.Tyr163Phe |
Missense |
5/11 |
- |
1 |
17-7578443-A-G |
c.487T>C |
p.Tyr163His |
Missense |
5/11 |
- |
12 |
17-7578443-A-C |
c.487T>G |
p.Tyr163Asp |
Missense |
5/11 |
- |
5 |
17-7578443-A-T |
c.487T>A |
p.Tyr163Asn |
Missense |
5/11 |
- |
8 |
17-7578444-G-C |
c.486C>G |
p.Ile162Met |
Missense |
5/11 |
- |
1 |
17-7578444-G-A |
c.486C>T |
p.Ile162Ile |
Synonymous |
5/11 |
- |
4 |
17-7578445-A-C |
c.485T>G |
p.Ile162Ser |
Missense |
5/11 |
- |
2 |
17-7578445-A-G |
c.485T>C |
p.Ile162Thr |
Missense |
5/11 |
- |
1 |
17-7578445-A-T |
c.485T>A |
p.Ile162Asn |
Missense |
5/11 |
- |
1 |
17-7578445-GATGGCCATGG-G |
c.477_486del |
p.Met160Thrfs*7 |
Frameshift |
5/11 |
- |
1 |
17-7578445-AT-GG |
c.484_485delinsCC |
p.Ile162Pro |
Missense |
5/11 |
- |
1 |
17-7578446-T-A |
c.484A>T |
p.Ile162Phe |
Missense |
5/11 |
- |
7 |
17-7578447-TGGC-T |
c.481_483del |
p.Ala161del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578448-GC-AA |
c.481_482delinsTT |
p.Ala161Phe |
Missense |
5/11 |
- |
1 |
17-7578448-GC-TA |
c.481_482delinsTA |
p.Ala161Tyr |
Missense |
5/11 |
- |
1 |
17-7578448-G-A |
c.482C>T |
p.Ala161Val |
Missense |
5/11 |
- |
6 |
17-7578448-G-C |
c.482C>G |
p.Ala161Gly |
Missense |
5/11 |
- |
3 |
17-7578448-G-T |
c.482C>A |
p.Ala161Asp |
Missense |
5/11 |
- |
8 |
17-7578449-C-A |
c.481G>T |
p.Ala161Ser |
Missense |
5/11 |
- |
14 |
17-7578449-C-T |
c.481G>A |
p.Ala161Thr |
Missense |
5/11 |
- |
36 |
17-7578449-C-G |
c.481G>C |
p.Ala161Pro |
Missense |
5/11 |
- |
2 |
17-7578450-C-T |
c.480G>A |
p.Met160Ile |
Missense |
5/11 |
- |
6 |
17-7578451-AT-GC |
c.478_479delinsGC |
p.Met160Ala |
Missense |
5/11 |
- |
1 |
17-7578451-A-T |
c.479T>A |
p.Met160Lys |
Missense |
5/11 |
- |
1 |
17-7578451-A-G |
c.479T>C |
p.Met160Thr |
Missense |
5/11 |
- |
1 |
17-7578452-T-C |
c.478A>G |
p.Met160Val |
Missense |
5/11 |
- |
2 |
17-7578452-T-A |
c.478A>T |
p.Met160Leu |
Missense |
5/11 |
- |
1 |
17-7578452-T-G |
c.478A>C |
p.Met160Leu |
Missense |
5/11 |
- |
1 |
17-7578453-GGC-AAG |
c.475_477delinsCTT |
p.Ala159Leu |
Missense |
5/11 |
- |
1 |
17-7578453-G-A |
c.477C>T |
p.Ala159Ala |
Synonymous |
5/11 |
- |
3 |
17-7578454-GC-AT |
c.475_476delinsAT |
p.Ala159Ile |
Missense |
5/11 |
- |
1 |
17-7578454-G-C |
c.476C>G |
p.Ala159Gly |
Missense |
5/11 |
- |
2 |
17-7578454-G-A |
c.476C>T |
p.Ala159Val |
Missense |
5/11 |
- |
25 |
17-7578454-G-T |
c.476C>A |
p.Ala159Asp |
Missense |
5/11 |
- |
11 |
17-7578454-GC-TT |
c.475_476delinsAA |
p.Ala159Asn |
Missense |
5/11 |
- |
1 |
17-7578454-GC-TG |
c.475_476delinsCA |
p.Ala159His |
Missense |
5/11 |
- |
3 |
17-7578455-C-G |
c.475G>C |
p.Ala159Pro |
Missense |
5/11 |
- |
12 |
17-7578455-C-T |
c.475G>A |
p.Ala159Thr |
Missense |
5/11 |
- |
5 |
17-7578456-G-A |
c.474C>T |
p.Arg158Arg |
Synonymous |
5/11 |
- |
4 |
17-7578457-C-T |
c.473G>A |
p.Arg158His |
Missense |
5/11 |
- |
52 |
17-7578457-CG-AT |
c.472_473delinsAT |
p.Arg158Ile |
Missense |
5/11 |
- |
1 |
17-7578457-CG-GC |
c.472_473delinsGC |
p.Arg158Ala |
Missense |
5/11 |
- |
1 |
17-7578457-GCG-G |
c.475_476del |
p.Ala159Hisfs*21 |
Frameshift |
5/11 |
- |
1 |
17-7578457-C-G |
c.473G>C |
p.Arg158Pro |
Missense |
5/11 |
- |
9 |
17-7578457-C-A |
c.473G>T |
p.Arg158Leu |
Missense |
5/11 |
- |
55 |
17-7578458-G-C |
c.472C>G |
p.Arg158Gly |
Missense |
5/11 |
- |
7 |
17-7578458-G-A |
c.472C>T |
p.Arg158Cys |
Missense |
5/11 |
- |
23 |
17-7578458-G-T |
c.472C>A |
p.Arg158Ser |
Missense |
5/11 |
- |
1 |
17-7578459-G-C |
c.471C>G |
p.Val157Val |
Synonymous |
5/11 |
- |
2 |
17-7578459-G-A |
c.471C>T |
p.Val157Val |
Synonymous |
5/11 |
- |
2 |
17-7578459-G-T |
c.471C>A |
p.Val157Val |
Synonymous |
5/11 |
- |
2 |
17-7578460-A-T |
c.470T>A |
p.Val157Asp |
Missense |
5/11 |
- |
9 |
17-7578460-A-C |
c.470T>G |
p.Val157Gly |
Missense |
5/11 |
- |
14 |
17-7578460-A-G |
c.470T>C |
p.Val157Ala |
Missense |
5/11 |
- |
4 |
17-7578460-GACG-G |
c.469_471del |
p.Val157del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578460-GACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCTTGGC-G |
c.412_470del |
p.Ala138Profs*23 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
5/11 |
- |
1 |
17-7578460-AC-CA |
c.469_470delinsTG |
p.Val157Cys |
Missense |
5/11 |
- |
1 |
17-7578461-ACGCGGGTGCCG-A |
c.459_469del |
p.Gly154Profs*23 |
Frameshift |
5/11 |
- |
1 |
17-7578461-C-T |
c.469G>A |
p.Val157Ile |
Missense |
5/11 |
- |
9 |
17-7578461-C-G |
c.469G>C |
p.Val157Leu |
Missense |
5/11 |
- |
2 |
17-7578461-C-A |
c.469G>T |
p.Val157Phe |
Missense |
5/11 |
- |
101 |
17-7578462-G-T |
c.468C>A |
p.Arg156Arg |
Synonymous |
5/11 |
- |
1 |
17-7578462-G-A |
c.468C>T |
p.Arg156Arg |
Synonymous |
5/11 |
- |
1 |
17-7578462-G-C |
c.468C>G |
p.Arg156Arg |
Synonymous |
5/11 |
- |
1 |
17-7578462-CG-C |
c.468del |
p.Val157Serfs*13 |
Frameshift |
5/11 |
- |
1 |
17-7578462-GC-AA |
c.467_468delinsTT |
p.Arg156Leu |
Missense |
5/11 |
- |
1 |
17-7578462-GCG-AAG |
c.467_468delinsTT |
p.Arg156Leu |
Missense |
5/11 |
- |
1 |
17-7578463-GCGG-G |
c.466_468del |
p.Arg156del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578463-C-T |
c.467G>A |
p.Arg156His |
Missense |
5/11 |
- |
19 |
17-7578463-C-G |
c.467G>C |
p.Arg156Pro |
Missense |
5/11 |
- |
27 |
17-7578463-CG-GC |
c.466_467delinsGC |
p.Arg156Ala |
Missense |
5/11 |
- |
1 |
17-7578464-G-C |
c.466C>G |
p.Arg156Gly |
Missense |
5/11 |
- |
1 |
17-7578464-G-A |
c.466C>T |
p.Arg156Cys |
Missense |
5/11 |
- |
7 |
17-7578465-G-T |
c.465C>A |
p.Thr155Thr |
Synonymous |
5/11 |
- |
2 |
17-7578465-G-A |
c.465C>T |
p.Thr155Thr |
Synonymous |
5/11 |
- |
2 |
17-7578465-GGT-GAG |
c.463_464delinsCT |
p.Thr155Leu |
Missense |
5/11 |
- |
2 |
17-7578467-T-A |
c.463A>T |
p.Thr155Ser |
Missense |
5/11 |
- |
3 |
17-7578466-G-T |
c.464C>A |
p.Thr155Asn |
Missense |
5/11 |
- |
11 |
17-7578466-G-A |
c.464C>T |
p.Thr155Ile |
Missense |
5/11 |
- |
14 |
17-7578467-T-G |
c.463A>C |
p.Thr155Pro |
Missense |
5/11 |
- |
10 |
17-7578467-T-C |
c.463A>G |
p.Thr155Ala |
Missense |
5/11 |
- |
7 |
17-7578468-G-T |
c.462C>A |
p.Gly154Gly |
Synonymous |
5/11 |
- |
1 |
17-7578468-G-C |
c.462C>G |
p.Gly154Gly |
Synonymous |
5/11 |
- |
1 |
17-7578468-G-A |
c.462C>T |
p.Gly154Gly |
Synonymous |
5/11 |
- |
1 |
17-7578469-C-G |
c.461G>C |
p.Gly154Ala |
Missense |
5/11 |
- |
1 |
17-7578469-C-A |
c.461G>T |
p.Gly154Val |
Missense |
5/11 |
- |
23 |
17-7578469-GCCGGGCGGGGGTG-G |
c.454_466del |
p.Pro152Alafs*14 |
Frameshift |
5/11 |
- |
2 |
17-7578469-C-T |
c.461G>A |
p.Gly154Asp |
Missense |
5/11 |
- |
3 |
17-7578470-C-T |
c.460G>A |
p.Gly154Ser |
Missense |
5/11 |
- |
7 |
17-7578470-C-A |
c.460G>T |
p.Gly154Cys |
Missense |
5/11 |
- |
1 |
17-7578471-G-A |
c.459C>T |
p.Pro153Pro |
Synonymous |
5/11 |
- |
3 |
17-7578472-G-A |
c.458C>T |
p.Pro153Leu |
Missense |
5/11 |
- |
2 |
17-7578472-G-T |
c.458C>A |
p.Pro153His |
Missense |
5/11 |
- |
2 |
17-7578473-G-A |
c.457C>T |
p.Pro153Ser |
Missense |
5/11 |
- |
2 |
17-7578473-GGCGGGGGTGTGG-G |
c.448_459del |
p.Thr150_Pro153del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578474-C-G |
c.456G>C |
p.Pro152Pro |
Synonymous |
5/11 |
- |
1 |
17-7578474-CGG-AAC |
c.454_456delinsGTT |
p.Pro152Val |
Missense |
5/11 |
- |
1 |
17-7578474-C-T |
c.456G>A |
p.Pro152Pro |
Synonymous |
5/11 |
- |
1 |
17-7578474-C-A |
c.456G>T |
p.Pro152Pro |
Synonymous |
5/11 |
- |
1 |
17-7578475-G-T |
c.455C>A |
p.Pro152Gln |
Missense |
5/11 |
- |
3 |
17-7578475-G-A |
c.455C>T |
p.Pro152Leu |
Missense |
5/11 |
- |
43 |
17-7578475-G-C |
c.455C>G |
p.Pro152Arg |
Missense |
5/11 |
- |
6 |
17-7578476-G-T |
c.454C>A |
p.Pro152Thr |
Missense |
5/11 |
- |
5 |
17-7578476-G-A |
c.454C>T |
p.Pro152Ser |
Missense |
5/11 |
- |
7 |
17-7578477-G-C |
c.453C>G |
p.Pro151Pro |
Synonymous |
5/11 |
- |
1 |
17-7578478-G-A |
c.452C>T |
p.Pro151Leu |
Missense |
5/11 |
- |
1 |
17-7578478-G-C |
c.452C>G |
p.Pro151Arg |
Missense |
5/11 |
- |
7 |
17-7578478-G-T |
c.452C>A |
p.Pro151His |
Missense |
5/11 |
- |
26 |
17-7578479-G-GG |
c.455dup |
p.Pro153Alafs*28 |
Frameshift |
5/11 |
- |
5 |
17-7578479-G-T |
c.451C>A |
p.Pro151Thr |
Missense |
5/11 |
- |
14 |
17-7578479-G-A |
c.451C>T |
p.Pro151Ser |
Missense |
5/11 |
- |
62 |
17-7578479-G-C |
c.451C>G |
p.Pro151Ala |
Missense |
5/11 |
- |
9 |
17-7578480-T-C |
c.450A>G |
p.Thr150Thr |
Synonymous |
5/11 |
- |
1 |
17-7578480-T-A |
c.450A>T |
p.Thr150Thr |
Synonymous |
5/11 |
- |
1 |
17-7578480-T-G |
c.450A>C |
p.Thr150Thr |
Synonymous |
5/11 |
- |
1 |
17-7578481-G-A |
c.449C>T |
p.Thr150Ile |
Missense |
5/11 |
- |
5 |
17-7578481-G-C |
c.449C>G |
p.Thr150Arg |
Missense |
5/11 |
- |
2 |
17-7578481-GT-CT |
c.449delinsG |
p.Thr150Arg |
Missense |
5/11 |
- |
1 |
17-7578481-GT-GA |
c.448delinsT |
p.Thr150Ser |
Missense |
5/11 |
- |
1 |
17-7578482-T-C |
c.448A>G |
p.Thr150Ala |
Missense |
5/11 |
- |
4 |
17-7578483-G-GAT |
c.446_447insAT |
p.Thr150Serfs*21 |
Frameshift |
5/11 |
- |
2 |
17-7578484-G-T |
c.446C>A |
p.Ser149Tyr |
Missense |
5/11 |
- |
1 |
17-7578484-G-A |
c.446C>T |
p.Ser149Phe |
Missense |
5/11 |
- |
1 |
17-7578484-G-C |
c.446C>G |
p.Ser149Cys |
Missense |
5/11 |
- |
2 |
17-7578485-A-G |
c.445T>C |
p.Ser149Pro |
Missense |
5/11 |
- |
1 |
17-7578485-A-C |
c.445T>G |
p.Ser149Ala |
Missense |
5/11 |
- |
4 |
17-7578486-ATC-CAA |
c.442_444delinsTTG |
p.Asp148Leu |
Missense |
5/11 |
- |
1 |
17-7578486-ATC-TCA |
c.442_444delinsTGA |
p.Asp148* |
Missense |
5/11 |
- |
1 |
17-7578486-A-AA |
c.445dup |
p.Ser149Phefs*32 |
Frameshift |
5/11 |
- |
2 |
17-7578486-A-C |
c.444T>G |
p.Asp148Glu |
Missense |
5/11 |
- |
15 |
17-7578486-A-T |
c.444T>A |
p.Asp148Glu |
Missense |
5/11 |
- |
15 |
17-7578487-T-G |
c.443A>C |
p.Asp148Ala |
Missense |
5/11 |
- |
2 |
17-7578487-T-C |
c.443A>G |
p.Asp148Gly |
Missense |
5/11 |
- |
1 |
17-7578487-TC-TG |
c.442delinsC |
p.Asp148His |
Missense |
5/11 |
- |
1 |
17-7578488-C-A |
c.442G>T |
p.Asp148Tyr |
Missense |
5/11 |
- |
1 |
17-7578488-C-T |
c.442G>A |
p.Asp148Asn |
Missense |
5/11 |
- |
4 |
17-7578490-A-G |
c.440T>C |
p.Val147Ala |
Missense |
5/11 |
- |
2 |
17-7578490-A-T |
c.440T>A |
p.Val147Asp |
Missense |
5/11 |
- |
3 |
17-7578490-A-C |
c.440T>G |
p.Val147Gly |
Missense |
5/11 |
- |
6 |
17-7578492-CCCACAGCTGCAC-C |
c.429_440del |
p.Gln144_Val147del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578492-CCA-GAC |
c.436_438delinsGTC |
p.Trp146Val |
Missense |
5/11 |
- |
1 |
17-7578492-CC-AT |
c.437_438delinsAT |
p.Trp146Tyr |
Missense |
5/11 |
- |
4 |
17-7578492-C-T |
c.438G>A |
p.Trp146* |
Nonsense |
5/11 |
- |
22 |
17-7578493-C-T |
c.437G>A |
p.Trp146* |
Nonsense |
5/11 |
- |
20 |
17-7578494-A-T |
c.436T>A |
p.Trp146Arg |
Missense |
5/11 |
- |
1 |
17-7578494-A-G |
c.436T>C |
p.Trp146Arg |
Missense |
5/11 |
- |
1 |
17-7578496-A-C |
c.434T>G |
p.Leu145Arg |
Missense |
5/11 |
- |
23 |
17-7578496-A-T |
c.434T>A |
p.Leu145Gln |
Missense |
5/11 |
- |
4 |
17-7578496-A-G |
c.434T>C |
p.Leu145Pro |
Missense |
5/11 |
- |
8 |
17-7578496-CA-C |
c.434del |
p.Leu145Argfs*25 |
Frameshift |
5/11 |
- |
1 |
17-7578496-AG-GC |
c.433_434delinsGC |
p.Leu145Ala |
Missense |
5/11 |
- |
2 |
17-7578498-C-G |
c.432G>C |
p.Gln144His |
Missense |
5/11 |
- |
1 |
17-7578498-C-A |
c.432G>T |
p.Gln144His |
Missense |
5/11 |
- |
1 |
17-7578499-TG-TC |
c.430delinsG |
p.Gln144Glu |
Missense |
5/11 |
- |
1 |
17-7578499-T-A |
c.431A>T |
p.Gln144Leu |
Missense |
5/11 |
- |
2 |
17-7578499-T-G |
c.431A>C |
p.Gln144Pro |
Missense |
5/11 |
- |
5 |
17-7578499-TG-GC |
c.430_431delinsGC |
p.Gln144Ala |
Missense |
5/11 |
- |
1 |
17-7578500-G-A |
c.430C>T |
p.Gln144* |
Nonsense |
5/11 |
- |
9 |
17-7578501-C-T |
c.429G>A |
p.Val143Val |
Synonymous |
5/11 |
- |
1 |
17-7578501-CAC-ATC |
c.428_429delinsAT |
p.Val143Asp |
Missense |
5/11 |
- |
1 |
17-7578502-A-C |
c.428T>G |
p.Val143Gly |
Missense |
5/11 |
- |
2 |
17-7578502-A-G |
c.428T>C |
p.Val143Ala |
Missense |
5/11 |
- |
132 |
17-7578502-A-T |
c.428T>A |
p.Val143Glu |
Missense |
5/11 |
- |
1 |
17-7578503-C-A |
c.427G>T |
p.Val143Leu |
Missense |
5/11 |
- |
1 |
17-7578503-C-T |
c.427G>A |
p.Val143Met |
Missense |
5/11 |
- |
14 |
17-7578505-G-A |
c.425C>T |
p.Pro142Leu |
Missense |
5/11 |
- |
3 |
17-7578505-G-C |
c.425C>G |
p.Pro142Arg |
Missense |
5/11 |
- |
3 |
17-7578506-GGGCAGGTCTTGGCCAGTTGGCAAAACA-G |
c.398_424del |
p.Met133_Pro142delinsThr |
MultiAAMissense |
5/11 |
- |
1 |
17-7578506-G-C |
c.424C>G |
p.Pro142Ala |
Missense |
5/11 |
- |
2 |
17-7578506-G-A |
c.424C>T |
p.Pro142Ser |
Missense |
5/11 |
- |
5 |
17-7578506-G-T |
c.424C>A |
p.Pro142Thr |
Missense |
5/11 |
- |
1 |
17-7578507-G-T |
c.423C>A |
p.Cys141* |
Nonsense |
5/11 |
- |
4 |
17-7578507-G-C |
c.423C>G |
p.Cys141Trp |
Missense |
5/11 |
- |
11 |
17-7578508-C-A |
c.422G>T |
p.Cys141Phe |
Missense |
5/11 |
- |
4 |
17-7578508-C-T |
c.422G>A |
p.Cys141Tyr |
Missense |
5/11 |
- |
22 |
17-7578508-GCAG-G |
c.421_423del |
p.Cys141del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578508-CA-GT |
c.421_422delinsAC |
p.Cys141Thr |
Missense |
5/11 |
- |
4 |
17-7578508-GCAGGTCTTGGCCAGTTGGCAAAACATCTTGTTGAGGGCAGGG-G |
c.386_427del |
p.Ala129_Pro142del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578508-CA-AC |
c.421_422delinsGT |
p.Cys141Val |
Missense |
5/11 |
- |
1 |
17-7578508-C-G |
c.422G>C |
p.Cys141Ser |
Missense |
5/11 |
- |
7 |
17-7578509-A-C |
c.421T>G |
p.Cys141Gly |
Missense |
5/11 |
- |
3 |
17-7578509-A-G |
c.421T>C |
p.Cys141Arg |
Missense |
5/11 |
- |
5 |
17-7578510-GGTCTTGGC-TGCAGGCCTGTCACCGCTTGT |
c.412_420delinsACAAGCGGTGACAGGCCTGCA |
p.Ala138_Thr140delinsThrSerGlyAspArgProAla |
MultiAAMissense |
5/11 |
- |
1 |
17-7578510-GGT-GAG |
c.418_419delinsCT |
p.Thr140Leu |
Missense |
5/11 |
- |
1 |
17-7578511-G-A |
c.419C>T |
p.Thr140Ile |
Missense |
5/11 |
- |
2 |
17-7578511-GG-G |
c.420del |
p.Cys141Alafs*29 |
Frameshift |
5/11 |
- |
1 |
17-7578513-C-T |
c.417G>A |
p.Lys139Lys |
Synonymous |
5/11 |
- |
1 |
17-7578513-C-A |
c.417G>T |
p.Lys139Asn |
Missense |
5/11 |
- |
4 |
17-7578514-T-C |
c.416A>G |
p.Lys139Arg |
Missense |
5/11 |
- |
8 |
17-7578514-TT-GC |
c.415_416delinsGC |
p.Lys139Ala |
Missense |
5/11 |
- |
1 |
17-7578515-T-A |
c.415A>T |
p.Lys139* |
Nonsense |
5/11 |
- |
2 |
17-7578515-T-C |
c.415A>G |
p.Lys139Glu |
Missense |
5/11 |
- |
5 |
17-7578515-T-G |
c.415A>C |
p.Lys139Gln |
Missense |
5/11 |
- |
3 |
17-7578515-TT-T |
c.416del |
p.Lys139Argfs*31 |
Frameshift |
5/11 |
- |
2 |
17-7578516-TGGC-T |
c.412_414del |
p.Ala138del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578517-G-T |
c.413C>A |
p.Ala138Asp |
Missense |
5/11 |
- |
1 |
17-7578517-G-A |
c.413C>T |
p.Ala138Val |
Missense |
5/11 |
- |
39 |
17-7578517-G-C |
c.413C>G |
p.Ala138Gly |
Missense |
5/11 |
- |
1 |
17-7578517-GGCCAGTTGGCAAAACATCTTG-G |
c.398_418del |
p.Met133_Lys139del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578517-GC-TA |
c.412_413delinsTA |
p.Ala138Tyr |
Missense |
5/11 |
- |
1 |
17-7578518-C-A |
c.412G>T |
p.Ala138Ser |
Missense |
5/11 |
- |
3 |
17-7578518-C-G |
c.412G>C |
p.Ala138Pro |
Missense |
5/11 |
- |
14 |
17-7578518-C-T |
c.412G>A |
p.Ala138Thr |
Missense |
5/11 |
- |
3 |
17-7578519-CAG-TTT |
c.409_411delinsAAA |
p.Leu137Lys |
Missense |
5/11 |
- |
1 |
17-7578520-A-T |
c.410T>A |
p.Leu137Gln |
Missense |
5/11 |
- |
3 |
17-7578520-A-G |
c.410T>C |
p.Leu137Pro |
Missense |
5/11 |
- |
1 |
17-7578521-G-T |
c.409C>A |
p.Leu137Met |
Missense |
5/11 |
- |
1 |
17-7578521-G-C |
c.409C>G |
p.Leu137Val |
Missense |
5/11 |
- |
1 |
17-7578522-T-A |
c.408A>T |
p.Gln136His |
Missense |
5/11 |
- |
1 |
17-7578522-T-C |
c.408A>G |
p.Gln136Gln |
Synonymous |
5/11 |
- |
2 |
17-7578522-T-G |
c.408A>C |
p.Gln136His |
Missense |
5/11 |
- |
1 |
17-7578523-T-A |
c.407A>T |
p.Gln136Leu |
Missense |
5/11 |
- |
1 |
17-7578523-T-G |
c.407A>C |
p.Gln136Pro |
Missense |
5/11 |
- |
2 |
17-7578523-TG-GC |
c.406_407delinsGC |
p.Gln136Ala |
Missense |
5/11 |
- |
1 |
17-7578524-G-C |
c.406C>G |
p.Gln136Glu |
Missense |
5/11 |
- |
3 |
17-7578524-G-A |
c.406C>T |
p.Gln136* |
Nonsense |
5/11 |
- |
14 |
17-7578525-G-GG |
c.406dup |
p.Gln136Profs*13 |
Frameshift |
5/11 |
- |
6 |
17-7578525-G-A |
c.405C>T |
p.Cys135Cys |
Synonymous |
5/11 |
- |
2 |
17-7578525-G-C |
c.405C>G |
p.Cys135Trp |
Missense |
5/11 |
- |
9 |
17-7578525-G-T |
c.405C>A |
p.Cys135* |
Nonsense |
5/11 |
- |
1 |
17-7578525-GGCA-G |
c.403_405del |
p.Cys135del |
InFrameDeletion |
5/11 |
- |
1 |
17-7578526-CA-GC |
c.403_404delinsGC |
p.Cys135Ala |
Missense |
5/11 |
- |
1 |
17-7578526-C-A |
c.404G>T |
p.Cys135Phe |
Missense |
5/11 |
- |
53 |
17-7578526-C-CG |
c.403_404insC |
p.Cys135Serfs*14 |
Frameshift |
5/11 |
- |
1 |
17-7578526-CA-GT |
c.403_404delinsAC |
p.Cys135Thr |
Missense |
5/11 |
- |
4 |
17-7578526-C-T |
c.404G>A |
p.Cys135Tyr |
Missense |
5/11 |
- |
59 |
17-7578526-C-G |
c.404G>C |
p.Cys135Ser |
Missense |
5/11 |
- |
7 |
17-7578527-A-G |
c.403T>C |
p.Cys135Arg |
Missense |
5/11 |
- |
14 |
17-7578527-A-C |
c.403T>G |
p.Cys135Gly |
Missense |
5/11 |
- |
4 |
17-7578527-A-T |
c.403T>A |
p.Cys135Ser |
Missense |
5/11 |
- |
7 |
17-7578529-A-C |
c.401T>G |
p.Phe134Cys |
Missense |
5/11 |
- |
7 |
17-7578529-A-G |
c.401T>C |
p.Phe134Ser |
Missense |
5/11 |
- |
6 |
17-7578529-A-T |
c.401T>A |
p.Phe134Tyr |
Missense |
5/11 |
- |
2 |
17-7578529-AA-GC |
c.400_401delinsGC |
p.Phe134Ala |
Missense |
5/11 |
- |
1 |
17-7578530-A-C |
c.400T>G |
p.Phe134Val |
Missense |
5/11 |
- |
5 |
17-7578530-A-G |
c.400T>C |
p.Phe134Leu |
Missense |
5/11 |
- |
12 |
17-7578528-A-C |
c.402T>G |
p.Phe134Leu |
Missense |
5/11 |
- |
13 |
17-7578528-A-T |
c.402T>A |
p.Phe134Leu |
Missense |
5/11 |
- |
12 |
17-7578530-A-AA |
c.403dup |
p.Cys135Leufs*14 |
Frameshift |
5/11 |
- |
5 |
17-7578530-AA-A |
c.403del |
p.Cys135Alafs*35 |
Frameshift |
5/11 |
- |
4 |
17-7578531-C-G |
c.399G>C |
p.Met133Ile |
Missense |
5/11 |
- |
2 |
17-7578531-C-A |
c.399G>T |
p.Met133Ile |
Missense |
5/11 |
- |
2 |
17-7578531-C-T |
c.399G>A |
p.Met133Ile |
Missense |
5/11 |
- |
2 |
17-7578532-A-C |
c.398T>G |
p.Met133Arg |
Missense |
5/11 |
- |
1 |
17-7578532-A-G |
c.398T>C |
p.Met133Thr |
Missense |
5/11 |
- |
15 |
17-7578532-A-T |
c.398T>A |
p.Met133Lys |
Missense |
5/11 |
- |
15 |
17-7578532-CATC-C |
c.397_399del |
p.Met133del |
InFrameDeletion |
5/11 |
- |
2 |
17-7578533-T-A |
c.397A>T |
p.Met133Leu |
Missense |
5/11 |
- |
42 |
17-7578533-T-G |
c.397A>C |
p.Met133Leu |
Missense |
5/11 |
- |
42 |
17-7578534-C-A |
c.396G>T |
p.Lys132Asn |
Missense |
5/11 |
- |
26 |
17-7578534-C-G |
c.396G>C |
p.Lys132Asn |
Missense |
5/11 |
- |
26 |
17-7578534-CTT-GAC |
c.394_396delinsGTC |
p.Lys132Val |
Missense |
5/11 |
- |
1 |
17-7578535-TT-GG |
c.394_395delinsCC |
p.Lys132Pro |
Missense |
5/11 |
- |
1 |
17-7578535-T-C |
c.395A>G |
p.Lys132Arg |
Missense |
5/11 |
- |
29 |
17-7578535-T-G |
c.395A>C |
p.Lys132Thr |
Missense |
5/11 |
- |
3 |
17-7578535-T-A |
c.395A>T |
p.Lys132Met |
Missense |
5/11 |
- |
9 |
17-7578535-TT-CA |
c.394_395delinsTG |
p.Lys132Trp |
Missense |
5/11 |
- |
1 |
17-7578536-T-G |
c.394A>C |
p.Lys132Gln |
Missense |
5/11 |
- |
19 |
17-7578536-TTGTTGAGGGCAGGGGAGTACT-T |
c.376_396del |
p.Tyr126_Lys132del |
InFrameDeletion |
5/11 |
4/10 |
2 |
17-7578536-TTGTTGAGGGCAGGGGAGTA-T |
c.376_394del |
p.Tyr126Argfs*38 |
SpliceAcceptorDeletion |
5/11 |
- |
1 |
17-7578536-T-A |
c.394A>T |
p.Lys132* |
Nonsense |
5/11 |
- |
4 |
17-7578536-T-C |
c.394A>G |
p.Lys132Glu |
Missense |
5/11 |
- |
15 |
17-7578537-G-C |
c.393C>G |
p.Asn131Lys |
Missense |
5/11 |
- |
2 |
17-7578537-G-A |
c.393C>T |
p.Asn131Asn |
Synonymous |
5/11 |
- |
2 |
17-7578537-G-T |
c.393C>A |
p.Asn131Lys |
Missense |
5/11 |
- |
2 |
17-7578538-GTTG-G |
c.393_395del |
p.Asn131del |
InFrameDeletion |
5/11 |
- |
5 |
17-7578538-T-A |
c.392A>T |
p.Asn131Ile |
Missense |
5/11 |
- |
5 |
17-7578538-T-C |
c.392A>G |
p.Asn131Ser |
Missense |
5/11 |
- |
2 |
17-7578538-GTTGAGGGCAG-G |
c.384_393del |
p.Ala129Argfs*38 |
Frameshift |
5/11 |
- |
1 |
17-7578539-T-TA |
c.390_391insT |
p.Asn131* |
Nonsense |
5/11 |
- |
3 |
17-7578539-T-A |
c.391A>T |
p.Asn131Tyr |
Missense |
5/11 |
- |
8 |
17-7578539-T-C |
c.391A>G |
p.Asn131Asp |
Missense |
5/11 |
- |
1 |
17-7578541-AG-TG |
c.389delinsA |
p.Leu130His |
Missense |
5/11 |
- |
1 |
17-7578541-A-T |
c.389T>A |
p.Leu130His |
Missense |
5/11 |
- |
1 |
17-7578541-A-G |
c.389T>C |
p.Leu130Pro |
Missense |
5/11 |
- |
6 |
17-7578541-A-C |
c.389T>G |
p.Leu130Arg |
Missense |
5/11 |
- |
1 |
17-7578542-G-T |
c.388C>A |
p.Leu130Ile |
Missense |
5/11 |
- |
6 |
17-7578542-G-C |
c.388C>G |
p.Leu130Val |
Missense |
5/11 |
- |
12 |
17-7578542-G-A |
c.388C>T |
p.Leu130Phe |
Missense |
5/11 |
- |
5 |
17-7578543-G-A |
c.387C>T |
p.Ala129Ala |
Synonymous |
5/11 |
- |
1 |
17-7578544-GC-TG |
c.385_386delinsCA |
p.Ala129His |
Missense |
5/11 |
- |
1 |
17-7578544-G-A |
c.386C>T |
p.Ala129Val |
Missense |
5/11 |
- |
2 |
17-7578544-G-T |
c.386C>A |
p.Ala129Asp |
Missense |
5/11 |
- |
1 |
17-7578545-GCAGG-G |
c.384_387del |
p.Ala129Serfs*40 |
Frameshift |
5/11 |
- |
1 |
17-7578545-C-T |
c.385G>A |
p.Ala129Thr |
Missense |
5/11 |
- |
2 |
17-7578546-A-T |
c.384T>A |
p.Pro128Pro |
Synonymous |
5/11 |
- |
1 |
17-7578547-G-A |
c.383C>T |
p.Pro128Leu |
Missense |
5/11 |
- |
2 |
17-7578548-G-A |
c.382C>T |
p.Pro128Ser |
Missense |
5/11 |
- |
3 |
17-7578549-GGA-GAG |
c.379_380delinsCT |
p.Ser127Leu |
Missense |
5/11 |
- |
2 |
17-7578550-G-C |
c.380C>G |
p.Ser127Cys |
Missense |
5/11 |
- |
1 |
17-7578550-G-A |
c.380C>T |
p.Ser127Phe |
Missense |
5/11 |
- |
35 |
17-7578550-G-T |
c.380C>A |
p.Ser127Tyr |
Missense |
5/11 |
- |
8 |
17-7578551-A-C |
c.379T>G |
p.Ser127Ala |
Missense |
5/11 |
- |
21 |
17-7578551-A-G |
c.379T>C |
p.Ser127Pro |
Missense |
5/11 |
- |
5 |
17-7578551-A-T |
c.379T>A |
p.Ser127Thr |
Missense |
5/11 |
- |
3 |
17-7578552-GTA-AAG |
c.376_378delinsCTT |
p.Tyr126Leu |
Missense |
5/11 |
- |
1 |
17-7578552-G-A |
c.378C>T |
p.Tyr126Tyr |
Synonymous |
5/11 |
- |
1 |
17-7578552-G-C |
c.378C>G |
p.Tyr126* |
Nonsense |
5/11 |
- |
4 |
17-7578553-TA-GC |
c.376_377delinsGC |
p.Tyr126Ala |
Missense |
5/11 |
- |
1 |
17-7578553-TA-AC |
c.376_377delinsGT |
p.Tyr126Val |
Missense |
5/11 |
- |
1 |
17-7578553-T-C |
c.377A>G |
p.Tyr126Cys |
Missense |
5/11 |
- |
23 |
17-7578553-T-A |
c.377A>T |
p.Tyr126Phe |
Missense |
5/11 |
- |
3 |
17-7578553-T-G |
c.377A>C |
p.Tyr126Ser |
Missense |
5/11 |
- |
2 |
17-7578553-TA-CC |
c.376_377delinsGG |
p.Tyr126Gly |
Missense |
5/11 |
- |
1 |
17-7578554-TA-T |
c.376del |
p.Tyr126Thrfs*44 |
Frameshift |
5/11 |
- |
1 |
17-7578554-A-T |
c.376T>A |
p.Tyr126Asn |
Missense |
5/11 |
- |
5 |
17-7578554-A-G |
c.376T>C |
p.Tyr126His |
Missense |
5/11 |
- |
4 |
17-7578554-A-C |
c.376T>G |
p.Tyr126Asp |
Missense |
5/11 |
- |
8 |
17-7578555-C-T |
c.376-1G>A |
- |
IntronicSNV |
- |
4/10 |
8 |
17-7578555-C-A |
c.376-1G>T |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578556-CT-C |
c.376-2del |
- |
IntronicDeletion |
- |
4/10 |
1 |
17-7578556-T-C |
c.376-2A>G |
- |
IntronicSNV |
- |
4/10 |
8 |
17-7578556-T-A |
c.376-2A>T |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578557-G-A |
c.376-3C>T |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578567-G-A |
c.376-13C>T |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578621-G-C |
c.376-67C>G |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578640-A-G |
c.376-86T>C |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578645-C-T |
c.376-91G>A |
- |
IntronicSNV |
- |
4/10 |
26 |
17-7578645-C-G |
c.376-91G>C |
- |
IntronicSNV |
- |
4/10 |
24 |
17-7578671-C-T |
c.376-117G>A |
- |
IntronicSNV |
- |
4/10 |
16 |
17-7578679-A-G |
c.376-125T>C |
- |
IntronicSNV |
- |
4/10 |
10 |
17-7578708-T-C |
c.376-154A>G |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7578837-A-G |
c.376-283T>C |
- |
IntronicSNV |
- |
4/10 |
3 |
17-7579211-A-G |
c.375+101T>C |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7579211-A-T |
c.375+101T>A |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7579275-G-T |
c.375+37C>A |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7579307-C-T |
c.375+5G>A |
- |
IntronicSNV |
- |
4/10 |
2 |
17-7579310-A-G |
c.375+2T>C |
- |
IntronicSNV |
- |
4/10 |
1 |
17-7579310-A-C |
c.375+2T>G |
- |
IntronicSNV |
- |
4/10 |
2 |
17-7579310-A-T |
c.375+2T>A |
- |
IntronicSNV |
- |
4/10 |
2 |
17-7579311-C-A |
c.375+1G>T |
- |
IntronicSNV |
- |
4/10 |
3 |
17-7579311-C-T |
c.375+1G>A |
- |
IntronicSNV |
- |
4/10 |
3 |
17-7579312-CGT-GAC |
c.373_375delinsGTC |
p.Thr125Val |
Missense |
4/11 |
- |
1 |
17-7579312-C-A |
c.375G>T |
p.Thr125Thr |
Synonymous |
4/11 |
- |
22 |
17-7579312-C-G |
c.375G>C |
p.Thr125Thr |
Synonymous |
4/11 |
- |
19 |
17-7579312-C-T |
c.375G>A |
p.Thr125Thr |
Synonymous |
4/11 |
- |
26 |
17-7579313-G-A |
c.374C>T |
p.Thr125Met |
Missense |
4/11 |
- |
17 |
17-7579313-G-C |
c.374C>G |
p.Thr125Arg |
Missense |
4/11 |
- |
13 |
17-7579313-G-T |
c.374C>A |
p.Thr125Lys |
Missense |
4/11 |
- |
1 |
17-7579313-GT-GA |
c.373delinsT |
p.Thr125Ser |
Missense |
4/11 |
- |
1 |
17-7579314-T-C |
c.373A>G |
p.Thr125Ala |
Missense |
4/11 |
- |
6 |
17-7579314-T-G |
c.373A>C |
p.Thr125Pro |
Missense |
4/11 |
- |
1 |
17-7579315-G-GG |
c.372dup |
p.Thr125Hisfs*24 |
Frameshift |
4/11 |
- |
1 |
17-7579315-G-T |
c.372C>A |
p.Cys124* |
Nonsense |
4/11 |
- |
3 |
17-7579315-G-A |
c.372C>T |
p.Cys124Cys |
Synonymous |
4/11 |
- |
1 |
17-7579316-CA-GC |
c.370_371delinsGC |
p.Cys124Ala |
Missense |
4/11 |
- |
13 |
17-7579316-CA-GA |
c.371delinsC |
p.Cys124Ser |
Missense |
4/11 |
- |
1 |
17-7579317-A-C |
c.370T>G |
p.Cys124Gly |
Missense |
4/11 |
- |
2 |
17-7579317-A-G |
c.370T>C |
p.Cys124Arg |
Missense |
4/11 |
- |
6 |
17-7579316-C-G |
c.371G>C |
p.Cys124Ser |
Missense |
4/11 |
- |
11 |
17-7579317-A-T |
c.370T>A |
p.Cys124Ser |
Missense |
4/11 |
- |
11 |
17-7579318-AAG-A |
c.368_369del |
p.Thr123Metfs*25 |
Frameshift |
4/11 |
- |
1 |
17-7579318-AG-TG |
c.369delinsA |
p.Thr123Thr |
Missense |
4/11 |
- |
1 |
17-7579319-GT-TG |
c.367_368delinsCA |
p.Thr123His |
Missense |
4/11 |
- |
1 |
17-7579319-GT-GA |
c.367delinsT |
p.Thr123Ser |
Missense |
4/11 |
- |
1 |
17-7579320-T-C |
c.367A>G |
p.Thr123Ala |
Missense |
4/11 |
- |
14 |
17-7579320-T-G |
c.367A>C |
p.Thr123Pro |
Missense |
4/11 |
- |
4 |
17-7579322-A-C |
c.365T>G |
p.Val122Gly |
Missense |
4/11 |
- |
1 |
17-7579322-A-G |
c.365T>C |
p.Val122Ala |
Missense |
4/11 |
- |
6 |
17-7579322-A-AA |
c.365dup |
p.Thr123Aspfs*26 |
Frameshift |
4/11 |
- |
1 |
17-7579322-AC-TA |
c.364_365delinsTA |
p.Val122* |
Nonsense |
4/11 |
- |
3 |
17-7579323-ACA-A |
c.365_366del |
p.Val122Aspfs*26 |
Frameshift |
4/11 |
- |
1 |
17-7579323-C-A |
c.364G>T |
p.Val122Leu |
Missense |
4/11 |
- |
1 |
17-7579323-C-G |
c.364G>C |
p.Val122Leu |
Missense |
4/11 |
- |
1 |
17-7579323-C-T |
c.364G>A |
p.Val122Met |
Missense |
4/11 |
- |
1 |
17-7579324-AG-AA |
c.362delinsT |
p.Ser121Phe |
Nonsense |
4/11 |
- |
1 |
17-7579325-G-C |
c.362C>G |
p.Ser121Cys |
Missense |
4/11 |
- |
1 |
17-7579325-G-A |
c.362C>T |
p.Ser121Phe |
Missense |
4/11 |
- |
16 |
17-7579326-A-T |
c.361T>A |
p.Ser121Thr |
Missense |
4/11 |
- |
1 |
17-7579327-CTT-TGT |
c.359_360delinsCA |
p.Lys120Thr |
Missense |
4/11 |
- |
1 |
17-7579327-C-A |
c.360G>T |
p.Lys120Asn |
Missense |
4/11 |
- |
2 |
17-7579327-C-G |
c.360G>C |
p.Lys120Asn |
Missense |
4/11 |
- |
2 |
17-7579328-T-A |
c.359A>T |
p.Lys120Met |
Missense |
4/11 |
- |
6 |
17-7579328-T-C |
c.359A>G |
p.Lys120Arg |
Missense |
4/11 |
- |
61 |
17-7579328-TT-GC |
c.358_359delinsGC |
p.Lys120Ala |
Missense |
4/11 |
- |
9 |
17-7579329-T-TA |
c.357_358insT |
p.Lys120* |
Nonsense |
4/11 |
- |
1 |
17-7579329-T-A |
c.358A>T |
p.Lys120* |
Nonsense |
4/11 |
- |
1 |
17-7579329-T-G |
c.358A>C |
p.Lys120Gln |
Missense |
4/11 |
- |
4 |
17-7579329-T-C |
c.358A>G |
p.Lys120Glu |
Missense |
4/11 |
- |
11 |
17-7579331-G-T |
c.356C>A |
p.Ala119Asp |
Missense |
4/11 |
- |
1 |
17-7579332-C-T |
c.355G>A |
p.Ala119Thr |
Missense |
4/11 |
- |
2 |
17-7579333-T-A |
c.354A>T |
p.Thr118Thr |
Synonymous |
4/11 |
- |
1 |
17-7579333-TG-AC |
c.353_354delinsGT |
p.Thr118Ser |
Missense |
4/11 |
- |
1 |
17-7579334-G-A |
c.353C>T |
p.Thr118Ile |
Missense |
4/11 |
- |
2 |
17-7579335-T-C |
c.352A>G |
p.Thr118Ala |
Missense |
4/11 |
- |
2 |
17-7579336-CCC-TGT |
c.349_351delinsACA |
p.Gly117Thr |
Missense |
4/11 |
- |
1 |
17-7579337-C-A |
c.350G>T |
p.Gly117Val |
Missense |
4/11 |
- |
2 |
17-7579338-C-A |
c.349G>T |
p.Gly117Trp |
Missense |
4/11 |
- |
1 |
17-7579338-C-T |
c.349G>A |
p.Gly117Arg |
Missense |
4/11 |
- |
3 |
17-7579339-A-G |
c.348T>C |
p.Ser116Ser |
Synonymous |
4/11 |
- |
1 |
17-7579340-G-C |
c.347C>G |
p.Ser116Cys |
Missense |
4/11 |
- |
2 |
17-7579340-G-A |
c.347C>T |
p.Ser116Phe |
Missense |
4/11 |
- |
1 |
17-7579341-A-C |
c.346T>G |
p.Ser116Ala |
Missense |
4/11 |
- |
2 |
17-7579342-ATG-GAG |
c.344_345delinsTC |
p.His115Leu |
Missense |
4/11 |
- |
1 |
17-7579343-TG-GC |
c.343_344delinsGC |
p.His115Ala |
Missense |
4/11 |
- |
1 |
17-7579343-T-C |
c.344A>G |
p.His115Arg |
Missense |
4/11 |
- |
1 |
17-7579344-G-A |
c.343C>T |
p.His115Tyr |
Missense |
4/11 |
- |
3 |
17-7579344-G-T |
c.343C>A |
p.His115Asn |
Missense |
4/11 |
- |
6 |
17-7579346-AA-AG |
c.340delinsC |
p.Leu114Leu |
Missense |
4/11 |
- |
1 |
17-7579346-A-T |
c.341T>A |
p.Leu114* |
Nonsense |
4/11 |
- |
2 |
17-7579348-G-T |
c.339C>A |
p.Phe113Leu |
Missense |
4/11 |
- |
3 |
17-7579349-AA-GC |
c.337_338delinsGC |
p.Phe113Ala |
Missense |
4/11 |
- |
3 |
17-7579349-GAAG-G |
c.339_341del |
p.Phe113del |
InFrameDeletion |
4/11 |
- |
2 |
17-7579349-A-C |
c.338T>G |
p.Phe113Cys |
Missense |
4/11 |
- |
9 |
17-7579349-A-G |
c.338T>C |
p.Phe113Ser |
Missense |
4/11 |
- |
1 |
17-7579350-A-C |
c.337T>G |
p.Phe113Val |
Missense |
4/11 |
- |
8 |
17-7579351-AGCC-A |
c.334_336del |
p.Gly112del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579352-C-T |
c.335G>A |
p.Gly112Asp |
Missense |
4/11 |
- |
4 |
17-7579352-C-A |
c.335G>T |
p.Gly112Val |
Missense |
4/11 |
- |
1 |
17-7579353-C-T |
c.334G>A |
p.Gly112Ser |
Missense |
4/11 |
- |
3 |
17-7579354-CAG-TTGGAT |
c.331_333delinsATCCAA |
p.Leu111delinsIleGln |
MultiAAMissense |
4/11 |
- |
1 |
17-7579355-AG-AA |
c.331delinsT |
p.Leu111Leu |
Missense |
4/11 |
- |
1 |
17-7579355-A-G |
c.332T>C |
p.Leu111Pro |
Missense |
4/11 |
- |
5 |
17-7579355-A-C |
c.332T>G |
p.Leu111Arg |
Missense |
4/11 |
- |
5 |
17-7579355-A-T |
c.332T>A |
p.Leu111Gln |
Missense |
4/11 |
- |
5 |
17-7579356-G-C |
c.331C>G |
p.Leu111Val |
Missense |
4/11 |
- |
1 |
17-7579357-GACGGAAACCGTAGCTGCCCTGGTA-G |
c.307_330del |
p.Tyr103_Arg110del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579358-C-T |
c.329G>A |
p.Arg110His |
Missense |
4/11 |
- |
8 |
17-7579358-C-G |
c.329G>C |
p.Arg110Pro |
Missense |
4/11 |
- |
31 |
17-7579358-C-A |
c.329G>T |
p.Arg110Leu |
Missense |
4/11 |
- |
35 |
17-7579359-CGG-C |
c.327_328del |
p.Phe109Leufs*39 |
Frameshift |
4/11 |
- |
1 |
17-7579359-CGGAAAC-C |
c.325_330del |
p.Phe109_Arg110del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579359-G-GACGGAAACCGT |
c.327_328insACGGTTTCCGT |
p.Arg110Thrfs*17 |
Frameshift |
4/11 |
- |
1 |
17-7579359-G-A |
c.328C>T |
p.Arg110Cys |
Missense |
4/11 |
- |
14 |
17-7579361-GAAACCG-G |
c.322_327del |
p.Gly108_Phe109del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579361-A-C |
c.326T>G |
p.Phe109Cys |
Missense |
4/11 |
- |
1 |
17-7579361-A-G |
c.326T>C |
p.Phe109Ser |
Missense |
4/11 |
- |
3 |
17-7579360-G-C |
c.327C>G |
p.Phe109Leu |
Missense |
4/11 |
- |
1 |
17-7579362-A-G |
c.325T>C |
p.Phe109Leu |
Missense |
4/11 |
- |
1 |
17-7579362-A-C |
c.325T>G |
p.Phe109Val |
Missense |
4/11 |
- |
3 |
17-7579360-G-T |
c.327C>A |
p.Phe109Leu |
Missense |
4/11 |
- |
1 |
17-7579363-AACCGTAGCTGCC-A |
c.313_324del |
p.Gly105_Gly108del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579363-AACC-A |
c.322_324del |
p.Gly108del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579364-C-G |
c.323G>C |
p.Gly108Ala |
Missense |
4/11 |
- |
1 |
17-7579364-C-A |
c.323G>T |
p.Gly108Val |
Missense |
4/11 |
- |
1 |
17-7579365-C-T |
c.322G>A |
p.Gly108Ser |
Missense |
4/11 |
- |
4 |
17-7579365-C-G |
c.322G>C |
p.Gly108Arg |
Missense |
4/11 |
- |
1 |
17-7579365-C-A |
c.322G>T |
p.Gly108Cys |
Missense |
4/11 |
- |
1 |
17-7579366-G-C |
c.321C>G |
p.Tyr107* |
Nonsense |
4/11 |
- |
10 |
17-7579366-GTA-TTG |
c.319_321delinsCAA |
p.Tyr107Gln |
Missense |
4/11 |
- |
1 |
17-7579367-TA-GC |
c.319_320delinsGC |
p.Tyr107Ala |
Missense |
4/11 |
- |
2 |
17-7579367-TA-GG |
c.319_320delinsCC |
p.Tyr107Pro |
Missense |
4/11 |
- |
1 |
17-7579367-TA-CC |
c.319_320delinsGG |
p.Tyr107Gly |
Missense |
4/11 |
- |
1 |
17-7579367-T-C |
c.320A>G |
p.Tyr107Cys |
Missense |
4/11 |
- |
1 |
17-7579367-T-G |
c.320A>C |
p.Tyr107Ser |
Missense |
4/11 |
- |
1 |
17-7579368-A-T |
c.319T>A |
p.Tyr107Asn |
Missense |
4/11 |
- |
2 |
17-7579368-A-G |
c.319T>C |
p.Tyr107His |
Missense |
4/11 |
- |
4 |
17-7579368-A-C |
c.319T>G |
p.Tyr107Asp |
Missense |
4/11 |
- |
2 |
17-7579369-G-C |
c.318C>G |
p.Ser106Arg |
Missense |
4/11 |
- |
5 |
17-7579369-GCT-GAG |
c.316_317delinsCT |
p.Ser106Leu |
Missense |
4/11 |
- |
1 |
17-7579370-C-A |
c.317G>T |
p.Ser106Ile |
Missense |
4/11 |
- |
1 |
17-7579370-GCTGCCCTG-G |
c.311_318del |
p.Gln104Leufs*42 |
Frameshift |
4/11 |
- |
1 |
17-7579370-CT-GC |
c.316_317delinsGC |
p.Ser106Ala |
Missense |
4/11 |
- |
2 |
17-7579372-G-A |
c.315C>T |
p.Gly105Gly |
Synonymous |
4/11 |
- |
2 |
17-7579373-C-G |
c.314G>C |
p.Gly105Ala |
Missense |
4/11 |
- |
1 |
17-7579373-C-T |
c.314G>A |
p.Gly105Asp |
Missense |
4/11 |
- |
4 |
17-7579373-C-A |
c.314G>T |
p.Gly105Val |
Missense |
4/11 |
- |
2 |
17-7579374-C-A |
c.313G>T |
p.Gly105Cys |
Missense |
4/11 |
- |
7 |
17-7579374-C-T |
c.313G>A |
p.Gly105Ser |
Missense |
4/11 |
- |
3 |
17-7579374-C-G |
c.313G>C |
p.Gly105Arg |
Missense |
4/11 |
- |
2 |
17-7579375-C-T |
c.312G>A |
p.Gln104Gln |
Synonymous |
4/11 |
- |
1 |
17-7579376-T-A |
c.311A>T |
p.Gln104Leu |
Missense |
4/11 |
- |
5 |
17-7579377-G-C |
c.310C>G |
p.Gln104Glu |
Missense |
4/11 |
- |
1 |
17-7579377-G-A |
c.310C>T |
p.Gln104* |
Nonsense |
4/11 |
- |
10 |
17-7579378-G-T |
c.309C>A |
p.Tyr103* |
Nonsense |
4/11 |
- |
4 |
17-7579379-TA-GC |
c.307_308delinsGC |
p.Tyr103Ala |
Missense |
4/11 |
- |
2 |
17-7579379-TA-GG |
c.307_308delinsCC |
p.Tyr103Pro |
Missense |
4/11 |
- |
1 |
17-7579379-GT-G |
c.308del |
p.Tyr103Serfs*20 |
Frameshift |
4/11 |
- |
1 |
17-7579379-T-A |
c.308A>T |
p.Tyr103Phe |
Missense |
4/11 |
- |
2 |
17-7579380-A-T |
c.307T>A |
p.Tyr103Asn |
Missense |
4/11 |
- |
1 |
17-7579380-TAGGT-T |
c.307_310del |
p.Tyr103Argfs*19 |
Frameshift |
4/11 |
- |
1 |
17-7579381-AGGT-A |
c.304_306del |
p.Thr102del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579382-G-A |
c.305C>T |
p.Thr102Ile |
Missense |
4/11 |
- |
2 |
17-7579383-T-G |
c.304A>C |
p.Thr102Pro |
Missense |
4/11 |
- |
1 |
17-7579383-GTTTTCTGG-G |
c.299_306del |
p.Gln100Leufs*46 |
Frameshift |
4/11 |
- |
1 |
17-7579384-T-A |
c.303A>T |
p.Lys101Asn |
Missense |
4/11 |
- |
1 |
17-7579384-T-G |
c.303A>C |
p.Lys101Asn |
Missense |
4/11 |
- |
1 |
17-7579385-TT-GC |
c.301_302delinsGC |
p.Lys101Ala |
Missense |
4/11 |
- |
2 |
17-7579385-T-C |
c.302A>G |
p.Lys101Arg |
Missense |
4/11 |
- |
5 |
17-7579386-T-A |
c.301A>T |
p.Lys101* |
Nonsense |
4/11 |
- |
1 |
17-7579386-T-C |
c.301A>G |
p.Lys101Glu |
Missense |
4/11 |
- |
1 |
17-7579387-C-A |
c.300G>T |
p.Gln100His |
Missense |
4/11 |
- |
1 |
17-7579388-T-C |
c.299A>G |
p.Gln100Arg |
Missense |
4/11 |
- |
1 |
17-7579389-G-A |
c.298C>T |
p.Gln100* |
Nonsense |
4/11 |
- |
5 |
17-7579389-G-T |
c.298C>A |
p.Gln100Lys |
Missense |
4/11 |
- |
1 |
17-7579391-G-A |
c.296C>T |
p.Ser99Phe |
Missense |
4/11 |
- |
2 |
17-7579392-A-C |
c.295T>G |
p.Ser99Ala |
Missense |
4/11 |
- |
3 |
17-7579393-A-AT |
c.293_294insA |
p.Ser99Phefs*50 |
Frameshift |
4/11 |
- |
1 |
17-7579394-G-A |
c.293C>T |
p.Pro98Leu |
Missense |
4/11 |
- |
6 |
17-7579394-G-T |
c.293C>A |
p.Pro98His |
Missense |
4/11 |
- |
2 |
17-7579395-G-A |
c.292C>T |
p.Pro98Ser |
Missense |
4/11 |
- |
6 |
17-7579396-G-A |
c.291C>T |
p.Val97Val |
Synonymous |
4/11 |
- |
1 |
17-7579396-GG-G |
c.293del |
p.Pro98Leufs*25 |
Frameshift |
4/11 |
- |
1 |
17-7579397-AC-TG |
c.289_290delinsCA |
p.Val97His |
Missense |
4/11 |
- |
1 |
17-7579397-A-C |
c.290T>G |
p.Val97Gly |
Missense |
4/11 |
- |
1 |
17-7579397-A-G |
c.290T>C |
p.Val97Ala |
Missense |
4/11 |
- |
1 |
17-7579398-C-T |
c.289G>A |
p.Val97Ile |
Missense |
4/11 |
- |
1 |
17-7579399-A-AA |
c.288dup |
p.Val97Cysfs*52 |
Frameshift |
4/11 |
- |
1 |
17-7579400-G-C |
c.287C>G |
p.Ser96Cys |
Missense |
4/11 |
- |
3 |
17-7579400-G-A |
c.287C>T |
p.Ser96Phe |
Missense |
4/11 |
- |
1 |
17-7579401-A-C |
c.286T>G |
p.Ser96Ala |
Missense |
4/11 |
- |
2 |
17-7579401-A-G |
c.286T>C |
p.Ser96Pro |
Missense |
4/11 |
- |
1 |
17-7579403-G-T |
c.284C>A |
p.Ser95Tyr |
Missense |
4/11 |
- |
1 |
17-7579403-G-A |
c.284C>T |
p.Ser95Phe |
Missense |
4/11 |
- |
2 |
17-7579403-G-C |
c.284C>G |
p.Ser95Cys |
Missense |
4/11 |
- |
1 |
17-7579403-GA-GG |
c.283delinsC |
p.Ser95Pro |
Missense |
4/11 |
- |
1 |
17-7579404-A-C |
c.283T>G |
p.Ser95Ala |
Missense |
4/11 |
- |
1 |
17-7579404-A-ACAGGGGC |
c.282_283insGCCCCTG |
p.Ser95Alafs*56 |
Frameshift |
4/11 |
- |
1 |
17-7579404-A-G |
c.283T>C |
p.Ser95Pro |
Missense |
4/11 |
- |
2 |
17-7579406-G-C |
c.281C>G |
p.Ser94* |
Nonsense |
4/11 |
- |
6 |
17-7579406-G-T |
c.281C>A |
p.Ser94* |
Nonsense |
4/11 |
- |
6 |
17-7579407-A-C |
c.280T>G |
p.Ser94Ala |
Missense |
4/11 |
- |
7 |
17-7579408-CAG-TGT |
c.277_279delinsACA |
p.Leu93Thr |
Missense |
4/11 |
- |
1 |
17-7579408-CAG-TTT |
c.277_279delinsAAA |
p.Leu93Lys |
Missense |
4/11 |
- |
1 |
17-7579409-A-G |
c.278T>C |
p.Leu93Pro |
Missense |
4/11 |
- |
1 |
17-7579409-A-AAGGGGCCAGG |
c.277_278insCCTGGCCCCT |
p.Leu93Profs*59 |
Frameshift |
4/11 |
- |
1 |
17-7579409-AG-TA |
c.277_278delinsTA |
p.Leu93* |
Nonsense |
4/11 |
- |
1 |
17-7579409-AG-GC |
c.277_278delinsGC |
p.Leu93Ala |
Missense |
4/11 |
- |
3 |
17-7579410-G-A |
c.277C>T |
p.Leu93Leu |
Synonymous |
4/11 |
- |
1 |
17-7579411-G-T |
c.276C>A |
p.Pro92Pro |
Synonymous |
4/11 |
- |
1 |
17-7579411-G-A |
c.276C>T |
p.Pro92Pro |
Synonymous |
4/11 |
- |
2 |
17-7579412-G-T |
c.275C>A |
p.Pro92His |
Missense |
4/11 |
- |
1 |
17-7579412-G-A |
c.275C>T |
p.Pro92Leu |
Missense |
4/11 |
- |
1 |
17-7579412-GG-TG |
c.275delinsA |
p.Pro92His |
Missense |
4/11 |
- |
1 |
17-7579413-G-A |
c.274C>T |
p.Pro92Ser |
Missense |
4/11 |
- |
2 |
17-7579413-G-C |
c.274C>G |
p.Pro92Ala |
Missense |
4/11 |
- |
2 |
17-7579414-C-T |
c.273G>A |
p.Trp91* |
Nonsense |
4/11 |
- |
22 |
17-7579415-CA-GC |
c.271_272delinsGC |
p.Trp91Ala |
Missense |
4/11 |
- |
3 |
17-7579416-A-G |
c.271T>C |
p.Trp91Arg |
Missense |
4/11 |
- |
1 |
17-7579416-CAGGAGGGGGCTGGTGCAGGGGCC-C |
c.257_279del |
p.Ala86Valfs*55 |
Frameshift |
4/11 |
- |
1 |
17-7579417-AGGAGGGGGCTGGTGCAGGGGCCGCCGGTGTAGGAGCTGCTGGTGC-A |
c.226_270del |
p.Ala76_Ser90del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579417-GGA-AAG |
c.268_270delinsCTT |
p.Ser90Leu |
Missense |
4/11 |
- |
1 |
17-7579418-G-T |
c.269C>A |
p.Ser90Tyr |
Missense |
4/11 |
- |
1 |
17-7579418-G-A |
c.269C>T |
p.Ser90Phe |
Missense |
4/11 |
- |
3 |
17-7579419-A-T |
c.268T>A |
p.Ser90Thr |
Missense |
4/11 |
- |
1 |
17-7579419-A-G |
c.268T>C |
p.Ser90Pro |
Missense |
4/11 |
- |
1 |
17-7579419-A-C |
c.268T>G |
p.Ser90Ala |
Missense |
4/11 |
- |
5 |
17-7579420-G-A |
c.267C>T |
p.Pro89Pro |
Synonymous |
4/11 |
- |
3 |
17-7579421-G-A |
c.266C>T |
p.Pro89Leu |
Missense |
4/11 |
- |
1 |
17-7579422-G-A |
c.265C>T |
p.Pro89Ser |
Missense |
4/11 |
- |
2 |
17-7579423-G-T |
c.264C>A |
p.Ala88Ala |
Synonymous |
4/11 |
- |
1 |
17-7579423-G-C |
c.264C>G |
p.Ala88Ala |
Synonymous |
4/11 |
- |
1 |
17-7579423-G-A |
c.264C>T |
p.Ala88Ala |
Synonymous |
4/11 |
- |
1 |
17-7579424-G-A |
c.263C>T |
p.Ala88Val |
Missense |
4/11 |
- |
1 |
17-7579424-G-T |
c.263C>A |
p.Ala88Asp |
Missense |
4/11 |
- |
1 |
17-7579424-GG-G |
c.267del |
p.Ser90Profs*33 |
Frameshift |
4/11 |
- |
2 |
17-7579424-GC-TG |
c.262_263delinsCA |
p.Ala88His |
Missense |
4/11 |
- |
2 |
17-7579424-GC-TT |
c.262_263delinsAA |
p.Ala88Asn |
Missense |
4/11 |
- |
3 |
17-7579424-G-C |
c.263C>G |
p.Ala88Gly |
Missense |
4/11 |
- |
1 |
17-7579425-C-A |
c.262G>T |
p.Ala88Ser |
Missense |
4/11 |
- |
1 |
17-7579425-C-T |
c.262G>A |
p.Ala88Thr |
Missense |
4/11 |
- |
1 |
17-7579427-G-A |
c.260C>T |
p.Pro87Leu |
Missense |
4/11 |
- |
2 |
17-7579428-G-A |
c.259C>T |
p.Pro87Ser |
Missense |
4/11 |
- |
2 |
17-7579429-T-C |
c.258A>G |
p.Ala86Ala |
Synonymous |
4/11 |
- |
1 |
17-7579429-T-G |
c.258A>C |
p.Ala86Ala |
Synonymous |
4/11 |
- |
1 |
17-7579429-T-A |
c.258A>T |
p.Ala86Ala |
Synonymous |
4/11 |
- |
1 |
17-7579430-G-A |
c.257C>T |
p.Ala86Val |
Missense |
4/11 |
- |
2 |
17-7579430-GC-CT |
c.256_257delinsAG |
p.Ala86Arg |
Missense |
4/11 |
- |
1 |
17-7579430-TG-T |
c.257del |
p.Ala86Aspfs*37 |
Frameshift |
4/11 |
- |
1 |
17-7579430-G-T |
c.257C>A |
p.Ala86Glu |
Missense |
4/11 |
- |
1 |
17-7579431-C-T |
c.256G>A |
p.Ala86Thr |
Missense |
4/11 |
- |
1 |
17-7579433-G-A |
c.254C>T |
p.Pro85Leu |
Missense |
4/11 |
- |
3 |
17-7579433-G-C |
c.254C>G |
p.Pro85Arg |
Missense |
4/11 |
- |
1 |
17-7579433-G-T |
c.254C>A |
p.Pro85His |
Missense |
4/11 |
- |
2 |
17-7579434-G-T |
c.253C>A |
p.Pro85Thr |
Missense |
4/11 |
- |
1 |
17-7579434-G-C |
c.253C>G |
p.Pro85Ala |
Missense |
4/11 |
- |
33 |
17-7579434-G-A |
c.253C>T |
p.Pro85Ser |
Missense |
4/11 |
- |
9 |
17-7579435-G-A |
c.252C>T |
p.Ala84Ala |
Synonymous |
4/11 |
- |
1 |
17-7579436-G-A |
c.251C>T |
p.Ala84Val |
Missense |
4/11 |
- |
1 |
17-7579436-G-T |
c.251C>A |
p.Ala84Asp |
Missense |
4/11 |
- |
2 |
17-7579436-GC-TT |
c.250_251delinsAA |
p.Ala84Asn |
Missense |
4/11 |
- |
1 |
17-7579438-CGC-TTT |
c.247_249delinsAAA |
p.Ala83Lys |
Missense |
4/11 |
- |
1 |
17-7579438-CG-AC |
c.248_249delinsGT |
p.Ala83Gly |
Missense |
4/11 |
- |
2 |
17-7579438-CGC-TGT |
c.247_249delinsACA |
p.Ala83Thr |
Missense |
4/11 |
- |
1 |
17-7579439-G-A |
c.248C>T |
p.Ala83Val |
Missense |
4/11 |
- |
5 |
17-7579441-C-T |
c.246G>A |
p.Pro82Pro |
Synonymous |
4/11 |
- |
1 |
17-7579441-CGG-ATC |
c.244_246delinsGAT |
p.Pro82Asp |
Missense |
4/11 |
- |
2 |
17-7579441-CG-AT |
c.245_246delinsAT |
p.Pro82His |
Missense |
4/11 |
- |
1 |
17-7579441-CCGG-C |
c.244_246del |
p.Pro82del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579442-G-A |
c.245C>T |
p.Pro82Leu |
Missense |
4/11 |
- |
10 |
17-7579444-T-TT |
c.243dup |
p.Pro82Thrfs*67 |
Frameshift |
4/11 |
- |
1 |
17-7579445-G-A |
c.242C>T |
p.Thr81Ile |
Missense |
4/11 |
- |
2 |
17-7579445-GT-GA |
c.241delinsT |
p.Thr81Ser |
Missense |
4/11 |
- |
1 |
17-7579446-T-C |
c.241A>G |
p.Thr81Ala |
Missense |
4/11 |
- |
8 |
17-7579448-G-C |
c.239C>G |
p.Pro80Arg |
Missense |
4/11 |
- |
2 |
17-7579448-G-A |
c.239C>T |
p.Pro80Leu |
Missense |
4/11 |
- |
3 |
17-7579449-G-A |
c.238C>T |
p.Pro80Ser |
Missense |
4/11 |
- |
4 |
17-7579450-A-G |
c.237T>C |
p.Ala79Ala |
Synonymous |
4/11 |
- |
1 |
17-7579450-A-C |
c.237T>G |
p.Ala79Ala |
Synonymous |
4/11 |
- |
1 |
17-7579450-A-T |
c.237T>A |
p.Ala79Ala |
Synonymous |
4/11 |
- |
1 |
17-7579451-GC-TT |
c.235_236delinsAA |
p.Ala79Asn |
Missense |
4/11 |
- |
1 |
17-7579451-G-T |
c.236C>A |
p.Ala79Asp |
Missense |
4/11 |
- |
1 |
17-7579451-AGCTGCTGGTGCAGGGG-A |
c.221_236del |
p.Ala74Valfs*44 |
Frameshift |
4/11 |
- |
1 |
17-7579453-T-C |
c.234A>G |
p.Ala78Ala |
Synonymous |
4/11 |
- |
1 |
17-7579453-TGC-TTT |
c.232_233delinsAA |
p.Ala78Lys |
Missense |
4/11 |
- |
1 |
17-7579453-T-TA |
c.233_234insT |
p.Ala79Serfs*70 |
Frameshift |
4/11 |
- |
1 |
17-7579454-G-A |
c.233C>T |
p.Ala78Val |
Missense |
4/11 |
- |
1 |
17-7579454-GC-AG |
c.232_233delinsCT |
p.Ala78Leu |
Missense |
4/11 |
- |
1 |
17-7579455-C-G |
c.232G>C |
p.Ala78Pro |
Missense |
4/11 |
- |
1 |
17-7579455-C-A |
c.232G>T |
p.Ala78Ser |
Missense |
4/11 |
- |
1 |
17-7579455-C-T |
c.232G>A |
p.Ala78Thr |
Missense |
4/11 |
- |
2 |
17-7579457-G-T |
c.230C>A |
p.Pro77Gln |
Missense |
4/11 |
- |
1 |
17-7579458-G-A |
c.229C>T |
p.Pro77Ser |
Missense |
4/11 |
- |
1 |
17-7579459-T-C |
c.228A>G |
p.Ala76Ala |
Synonymous |
4/11 |
- |
1 |
17-7579459-TGC-TGT |
c.226delinsA |
p.Ala76Thr |
Missense |
4/11 |
- |
2 |
17-7579459-GTGCAGGG-G |
c.224_230del |
p.Pro75Glnfs*46 |
Frameshift |
4/11 |
- |
1 |
17-7579459-T-A |
c.228A>T |
p.Ala76Ala |
Synonymous |
4/11 |
- |
1 |
17-7579459-T-G |
c.228A>C |
p.Ala76Ala |
Synonymous |
4/11 |
- |
1 |
17-7579460-G-A |
c.227C>T |
p.Ala76Val |
Missense |
4/11 |
- |
1 |
17-7579460-G-C |
c.227C>G |
p.Ala76Gly |
Missense |
4/11 |
- |
2 |
17-7579461-C-T |
c.226G>A |
p.Ala76Thr |
Missense |
4/11 |
- |
2 |
17-7579462-CAGGGGCCACGG-C |
c.215_225del |
p.Pro72Argfs*73 |
Frameshift |
4/11 |
- |
1 |
17-7579463-G-A |
c.224C>T |
p.Pro75Leu |
Missense |
4/11 |
- |
2 |
17-7579464-G-A |
c.223C>T |
p.Pro75Ser |
Missense |
4/11 |
- |
2 |
17-7579465-G-A |
c.222C>T |
p.Ala74Ala |
Synonymous |
4/11 |
- |
1 |
17-7579465-G-T |
c.222C>A |
p.Ala74Ala |
Synonymous |
4/11 |
- |
1 |
17-7579465-G-C |
c.222C>G |
p.Ala74Ala |
Synonymous |
4/11 |
- |
1 |
17-7579466-GC-AA |
c.220_221delinsTT |
p.Ala74Phe |
Missense |
4/11 |
- |
1 |
17-7579467-C-G |
c.220G>C |
p.Ala74Pro |
Missense |
4/11 |
- |
2 |
17-7579467-C-A |
c.220G>T |
p.Ala74Ser |
Missense |
4/11 |
- |
2 |
17-7579469-A-C |
c.218T>G |
p.Val73Gly |
Missense |
4/11 |
- |
1 |
17-7579469-AC-AG |
c.217delinsC |
p.Val73Leu |
Missense |
4/11 |
- |
1 |
17-7579469-AC-TG |
c.217_218delinsCA |
p.Val73Gln |
Missense |
4/11 |
- |
1 |
17-7579470-ACGGGGGGAGCAGCCTCTGGCATTCTG-A |
c.192_217del |
p.Arg65Glyfs*75 |
Frameshift |
4/11 |
- |
1 |
17-7579470-C-T |
c.217G>A |
p.Val73Met |
Missense |
4/11 |
- |
4 |
17-7579471-G-A |
c.216C>T |
p.Pro72Pro |
Synonymous |
4/11 |
- |
16 |
17-7579471-G-T |
c.216C>A |
p.Pro72Pro |
Synonymous |
4/11 |
- |
16 |
17-7579471-G-C |
c.216C>G |
p.Pro72Pro |
Synonymous |
4/11 |
- |
16 |
17-7579472-G-T |
c.215C>A |
p.Pro72His |
Missense |
4/11 |
- |
357 |
17-7579472-G-C |
c.215C>G |
p.Pro72Arg |
Missense |
4/11 |
- |
636 |
17-7579473-G-A |
c.214C>T |
p.Pro72Ser |
Missense |
4/11 |
- |
2 |
17-7579473-G-C |
c.214C>G |
p.Pro72Ala |
Missense |
4/11 |
- |
14 |
17-7579474-G-T |
c.213C>A |
p.Pro71Pro |
Synonymous |
4/11 |
- |
1 |
17-7579474-G-C |
c.213C>G |
p.Pro71Pro |
Synonymous |
4/11 |
- |
2 |
17-7579475-G-A |
c.212C>T |
p.Pro71Leu |
Missense |
4/11 |
- |
2 |
17-7579475-G-C |
c.212C>G |
p.Pro71Arg |
Missense |
4/11 |
- |
1 |
17-7579476-G-GG |
c.216dup |
p.Val73Argfs*76 |
Frameshift |
4/11 |
- |
5 |
17-7579476-G-A |
c.211C>T |
p.Pro71Ser |
Missense |
4/11 |
- |
1 |
17-7579476-GG-G |
c.216del |
p.Val73Trpfs*50 |
Frameshift |
4/11 |
- |
2 |
17-7579477-A-AC |
c.209_210insG |
p.Pro71Serfs*78 |
Frameshift |
4/11 |
- |
1 |
17-7579477-GA-G |
c.210del |
p.Val73Trpfs*50 |
Frameshift |
4/11 |
- |
1 |
17-7579478-GC-AT |
c.208_209delinsAT |
p.Ala70Ile |
Missense |
4/11 |
- |
1 |
17-7579478-GC-TT |
c.208_209delinsAA |
p.Ala70Asn |
Missense |
4/11 |
- |
3 |
17-7579478-G-T |
c.209C>A |
p.Ala70Asp |
Missense |
4/11 |
- |
1 |
17-7579478-G-C |
c.209C>G |
p.Ala70Gly |
Missense |
4/11 |
- |
1 |
17-7579478-G-A |
c.209C>T |
p.Ala70Val |
Missense |
4/11 |
- |
1 |
17-7579478-GC-TG |
c.208_209delinsCA |
p.Ala70His |
Missense |
4/11 |
- |
2 |
17-7579481-G-T |
c.206C>A |
p.Ala69Asp |
Missense |
4/11 |
- |
4 |
17-7579481-GC-TG |
c.205_206delinsCA |
p.Ala69His |
Missense |
4/11 |
- |
2 |
17-7579481-G-A |
c.206C>T |
p.Ala69Val |
Missense |
4/11 |
- |
2 |
17-7579483-C-G |
c.204G>C |
p.Glu68Asp |
Missense |
4/11 |
- |
1 |
17-7579483-C-T |
c.204G>A |
p.Glu68Glu |
Synonymous |
4/11 |
- |
1 |
17-7579483-CTC-TTT |
c.202_204delinsAAA |
p.Glu68Lys |
Missense |
4/11 |
- |
1 |
17-7579484-T-G |
c.203A>C |
p.Glu68Ala |
Missense |
4/11 |
- |
4 |
17-7579484-T-TA |
c.202_203insT |
p.Glu68Valfs*81 |
Frameshift |
4/11 |
- |
1 |
17-7579485-C-A |
c.202G>T |
p.Glu68* |
Nonsense |
4/11 |
- |
3 |
17-7579485-C-T |
c.202G>A |
p.Glu68Lys |
Missense |
4/11 |
- |
1 |
17-7579487-G-C |
c.200C>G |
p.Pro67Arg |
Missense |
4/11 |
- |
1 |
17-7579492-TCT-CAT |
c.194_195delinsTG |
p.Arg65Met |
Missense |
4/11 |
- |
1 |
17-7579493-CT-GC |
c.193_194delinsGC |
p.Arg65Ala |
Missense |
4/11 |
- |
2 |
17-7579493-C-T |
c.194G>A |
p.Arg65Lys |
Missense |
4/11 |
- |
1 |
17-7579494-T-A |
c.193A>T |
p.Arg65* |
Nonsense |
4/11 |
- |
6 |
17-7579495-GGG-AAG |
c.191_192delinsTT |
p.Pro64Leu |
Missense |
4/11 |
- |
1 |
17-7579495-G-A |
c.192C>T |
p.Pro64Pro |
Synonymous |
4/11 |
- |
1 |
17-7579496-G-T |
c.191C>A |
p.Pro64His |
Missense |
4/11 |
- |
1 |
17-7579496-G-A |
c.191C>T |
p.Pro64Leu |
Missense |
4/11 |
- |
3 |
17-7579497-G-GC |
c.189_190insG |
p.Pro64Alafs*85 |
Frameshift |
4/11 |
- |
1 |
17-7579497-G-A |
c.190C>T |
p.Pro64Ser |
Missense |
4/11 |
- |
1 |
17-7579497-G-C |
c.190C>G |
p.Pro64Ala |
Missense |
4/11 |
- |
2 |
17-7579498-A-G |
c.189T>C |
p.Ala63Ala |
Synonymous |
4/11 |
- |
2 |
17-7579498-A-T |
c.189T>A |
p.Ala63Ala |
Synonymous |
4/11 |
- |
2 |
17-7579498-A-C |
c.189T>G |
p.Ala63Ala |
Synonymous |
4/11 |
- |
2 |
17-7579499-G-A |
c.188C>T |
p.Ala63Val |
Missense |
4/11 |
- |
2 |
17-7579499-G-C |
c.188C>G |
p.Ala63Gly |
Missense |
4/11 |
- |
1 |
17-7579499-G-T |
c.188C>A |
p.Ala63Asp |
Missense |
4/11 |
- |
4 |
17-7579499-GC-TG |
c.187_188delinsCA |
p.Ala63His |
Missense |
4/11 |
- |
1 |
17-7579499-GC-TT |
c.187_188delinsAA |
p.Ala63Asn |
Missense |
4/11 |
- |
1 |
17-7579500-C-G |
c.187G>C |
p.Ala63Pro |
Missense |
4/11 |
- |
1 |
17-7579501-CTTC-C |
c.185_187del |
p.Glu62del |
InFrameDeletion |
4/11 |
- |
1 |
17-7579501-T-C |
c.186A>G |
p.Glu62Glu |
Synonymous |
4/11 |
- |
1 |
17-7579501-TTC-AAC |
c.185_186delinsTT |
p.Glu62Val |
Missense |
4/11 |
- |
1 |
17-7579502-T-C |
c.185A>G |
p.Glu62Gly |
Missense |
4/11 |
- |
1 |
17-7579503-C-A |
c.184G>T |
p.Glu62* |
Nonsense |
4/11 |
- |
5 |
17-7579504-A-C |
c.183T>G |
p.Asp61Glu |
Missense |
4/11 |
- |
2 |
17-7579504-A-T |
c.183T>A |
p.Asp61Glu |
Missense |
4/11 |
- |
2 |
17-7579505-T-G |
c.182A>C |
p.Asp61Ala |
Missense |
4/11 |
- |
1 |
17-7579505-T-C |
c.182A>G |
p.Asp61Gly |
Missense |
4/11 |
- |
2 |
17-7579505-TC-TG |
c.181delinsC |
p.Asp61His |
Missense |
4/11 |
- |
2 |
17-7579506-C-T |
c.181G>A |
p.Asp61Asn |
Missense |
4/11 |
- |
1 |
17-7579506-C-A |
c.181G>T |
p.Asp61Tyr |
Missense |
4/11 |
- |
1 |
17-7579507-T-G |
c.180A>C |
p.Pro60Pro |
Synonymous |
4/11 |
- |
1 |
17-7579507-T-C |
c.180A>G |
p.Pro60Pro |
Synonymous |
4/11 |
- |
1 |
17-7579507-T-A |
c.180A>T |
p.Pro60Pro |
Synonymous |
4/11 |
- |
1 |
17-7579507-TGG-TGT |
c.178delinsA |
p.Pro60Thr |
Missense |
4/11 |
- |
3 |
17-7579508-G-T |
c.179C>A |
p.Pro60Gln |
Missense |
4/11 |
- |
1 |
17-7579508-G-A |
c.179C>T |
p.Pro60Leu |
Missense |
4/11 |
- |
3 |
17-7579509-G-C |
c.178C>G |
p.Pro60Ala |
Missense |
4/11 |
- |
2 |
17-7579509-G-A |
c.178C>T |
p.Pro60Ser |
Missense |
4/11 |
- |
2 |
17-7579511-C-G |
c.176G>C |
p.Gly59Ala |
Missense |
4/11 |
- |
2 |
17-7579513-TGG-AAC |
c.172_174delinsGTT |
p.Pro58Val |
Missense |
4/11 |
- |
1 |
17-7579514-G-C |
c.173C>G |
p.Pro58Arg |
Missense |
4/11 |
- |
2 |
17-7579514-G-A |
c.173C>T |
p.Pro58Leu |
Missense |
4/11 |
- |
1 |
17-7579515-G-A |
c.172C>T |
p.Pro58Ser |
Missense |
4/11 |
- |
1 |
17-7579515-G-C |
c.172C>G |
p.Pro58Ala |
Missense |
4/11 |
- |
1 |
17-7579515-G-GTCACCCGGAT |
c.171_172insATCCGGGTGA |
p.Pro58Ilefs*8 |
Frameshift |
4/11 |
- |
1 |
17-7579516-G-A |
c.171C>T |
p.Asp57Asp |
Synonymous |
4/11 |
- |
2 |
17-7579517-T-C |
c.170A>G |
p.Asp57Gly |
Missense |
4/11 |
- |
2 |
17-7579517-TC-TG |
c.169delinsC |
p.Asp57His |
Missense |
4/11 |
- |
4 |
17-7579517-T-A |
c.170A>T |
p.Asp57Val |
Missense |
4/11 |
- |
1 |
17-7579518-C-T |
c.169G>A |
p.Asp57Asn |
Missense |
4/11 |
- |
7 |
17-7579518-TCTTCAGTGAACCATTGTTCAATATCGTCCGGGGACAGCATCAAATCATCCATTGCTTGG-T |
c.111_169del |
p.Gln38Profs*5 |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion |
4/11 |
- |
1 |
17-7579519-T-C |
c.168A>G |
p.Glu56Glu |
Synonymous |
4/11 |
- |
1 |
17-7579519-TTC-TGT |
c.166_167delinsAC |
p.Glu56Thr |
Missense |
4/11 |
- |
1 |
17-7579520-T-G |
c.167A>C |
p.Glu56Ala |
Missense |
4/11 |
- |
1 |
17-7579520-T-A |
c.167A>T |
p.Glu56Val |
Missense |
4/11 |
- |
1 |
17-7579521-C-A |
c.166G>T |
p.Glu56* |
Nonsense |
4/11 |
- |
7 |
17-7579521-C-G |
c.166G>C |
p.Glu56Gln |
Missense |
4/11 |
- |
1 |
17-7579521-C-T |
c.166G>A |
p.Glu56Lys |
Missense |
4/11 |
- |
2 |
17-7579523-G-A |
c.164C>T |
p.Thr55Ile |
Missense |
4/11 |
- |
1 |
17-7579523-GT-GA |
c.163delinsT |
p.Thr55Ser |
Missense |
4/11 |
- |
3 |
17-7579524-T-C |
c.163A>G |
p.Thr55Ala |
Missense |
4/11 |
- |
6 |
17-7579524-T-G |
c.163A>C |
p.Thr55Pro |
Missense |
4/11 |
- |
1 |
17-7579525-G-A |
c.162C>T |
p.Phe54Phe |
Synonymous |
4/11 |
- |
1 |
17-7579526-A-G |
c.161T>C |
p.Phe54Ser |
Missense |
4/11 |
- |
14 |
17-7579526-AA-GC |
c.160_161delinsGC |
p.Phe54Ala |
Missense |
4/11 |
- |
5 |
17-7579527-A-T |
c.160T>A |
p.Phe54Ile |
Missense |
4/11 |
- |
1 |
17-7579527-A-AA |
c.161dup |
p.Thr55Hisfs*2 |
Frameshift |
4/11 |
- |
1 |
17-7579528-C-A |
c.159G>T |
p.Trp53Cys |
Missense |
4/11 |
- |
1 |
17-7579529-C-A |
c.158G>T |
p.Trp53Leu |
Missense |
4/11 |
- |
1 |
17-7579529-C-G |
c.158G>C |
p.Trp53Ser |
Missense |
4/11 |
- |
1 |
17-7579529-C-T |
c.158G>A |
p.Trp53* |
Nonsense |
4/11 |
- |
13 |
17-7579529-CA-GC |
c.157_158delinsGC |
p.Trp53Ala |
Missense |
4/11 |
- |
3 |
17-7579530-A-C |
c.157T>G |
p.Trp53Gly |
Missense |
4/11 |
- |
2 |
17-7579531-T-G |
c.156A>C |
p.Gln52His |
Missense |
4/11 |
- |
1 |
17-7579531-T-A |
c.156A>T |
p.Gln52His |
Missense |
4/11 |
- |
1 |
17-7579532-T-A |
c.155A>T |
p.Gln52Leu |
Missense |
4/11 |
- |
2 |
17-7579532-TG-GC |
c.154_155delinsGC |
p.Gln52Ala |
Missense |
4/11 |
- |
1 |
17-7579533-G-A |
c.154C>T |
p.Gln52* |
Nonsense |
4/11 |
- |
5 |
17-7579534-TTC-TTT |
c.151delinsA |
p.Glu51Lys |
Missense |
4/11 |
- |
1 |
17-7579535-T-G |
c.152A>C |
p.Glu51Ala |
Missense |
4/11 |
- |
1 |
17-7579536-C-A |
c.151G>T |
p.Glu51* |
Nonsense |
4/11 |
- |
4 |
17-7579536-C-T |
c.151G>A |
p.Glu51Lys |
Missense |
4/11 |
- |
3 |
17-7579537-A-G |
c.150T>C |
p.Ile50Ile |
Synonymous |
4/11 |
- |
4 |
17-7579537-A-T |
c.150T>A |
p.Ile50Ile |
Synonymous |
4/11 |
- |
4 |
17-7579537-AA-AG |
c.149delinsC |
p.Ile50Thr |
Missense |
4/11 |
- |
1 |
17-7579538-AT-GC |
c.148_149delinsGC |
p.Ile50Ala |
Missense |
4/11 |
- |
5 |
17-7579538-A-T |
c.149T>A |
p.Ile50Asn |
Missense |
4/11 |
- |
1 |
17-7579539-T-C |
c.148A>G |
p.Ile50Val |
Missense |
4/11 |
- |
6 |
17-7579540-ATC-AAG |
c.145_146delinsCT |
p.Asp49Leu |
Missense |
4/11 |
- |
2 |
17-7579540-A-C |
c.147T>G |
p.Asp49Glu |
Missense |
4/11 |
- |
1 |
17-7579541-TC-TT |
c.145delinsA |
p.Asp49Asn |
Missense |
4/11 |
- |
1 |
17-7579541-TC-TG |
c.145delinsC |
p.Asp49His |
Missense |
4/11 |
- |
1 |
17-7579541-T-A |
c.146A>T |
p.Asp49Val |
Missense |
4/11 |
- |
1 |
17-7579541-T-G |
c.146A>C |
p.Asp49Ala |
Missense |
4/11 |
- |
5 |
17-7579542-C-G |
c.145G>C |
p.Asp49His |
Missense |
4/11 |
- |
9 |
17-7579542-C-A |
c.145G>T |
p.Asp49Tyr |
Missense |
4/11 |
- |
2 |
17-7579542-C-T |
c.145G>A |
p.Asp49Asn |
Missense |
4/11 |
- |
2 |
17-7579542-C-CA |
c.144_145insT |
p.Asp49* |
Nonsense |
4/11 |
- |
1 |
17-7579543-CG-C |
c.144del |
p.Asp48Glufs*75 |
Frameshift |
4/11 |
- |
1 |
17-7579543-GTC-AAG |
c.142_144delinsCTT |
p.Asp48Leu |
Missense |
4/11 |
- |
2 |
17-7579543-G-C |
c.144C>G |
p.Asp48Glu |
Missense |
4/11 |
- |
1 |
17-7579543-G-T |
c.144C>A |
p.Asp48Glu |
Missense |
4/11 |
- |
1 |
17-7579544-T-C |
c.143A>G |
p.Asp48Gly |
Missense |
4/11 |
- |
1 |
17-7579544-T-G |
c.143A>C |
p.Asp48Ala |
Missense |
4/11 |
- |
2 |
17-7579545-C-G |
c.142G>C |
p.Asp48His |
Missense |
4/11 |
- |
2 |
17-7579545-C-T |
c.142G>A |
p.Asp48Asn |
Missense |
4/11 |
- |
1 |
17-7579547-G-A |
c.140C>T |
p.Pro47Leu |
Missense |
4/11 |
- |
2 |
17-7579547-G-C |
c.140C>G |
p.Pro47Arg |
Missense |
4/11 |
- |
1 |
17-7579548-G-T |
c.139C>A |
p.Pro47Thr |
Missense |
4/11 |
- |
8 |
17-7579548-G-A |
c.139C>T |
p.Pro47Ser |
Missense |
4/11 |
- |
68 |
17-7579548-G-C |
c.139C>G |
p.Pro47Ala |
Missense |
4/11 |
- |
2 |
17-7579548-G-GT |
c.138_139insA |
p.Pro47Thrfs*5 |
Frameshift |
4/11 |
- |
1 |
17-7579549-GG-AA |
c.137_138delinsTT |
p.Ser46Phe |
Nonsense |
4/11 |
- |
1 |
17-7579549-GGA-GAG |
c.136_137delinsCT |
p.Ser46Leu |
Missense |
4/11 |
- |
1 |
17-7579549-G-C |
c.138C>G |
p.Ser46Ser |
Synonymous |
4/11 |
- |
1 |
17-7579549-G-A |
c.138C>T |
p.Ser46Ser |
Synonymous |
4/11 |
- |
1 |
17-7579549-G-T |
c.138C>A |
p.Ser46Ser |
Synonymous |
4/11 |
- |
1 |
17-7579550-GA-AA |
c.137delinsT |
p.Ser46Phe |
Missense |
4/11 |
- |
1 |
17-7579550-G-T |
c.137C>A |
p.Ser46Tyr |
Missense |
4/11 |
- |
1 |
17-7579550-G-A |
c.137C>T |
p.Ser46Phe |
Missense |
4/11 |
- |
6 |
17-7579550-GA-GG |
c.136delinsC |
p.Ser46Pro |
Missense |
4/11 |
- |
5 |
17-7579551-A-C |
c.136T>G |
p.Ser46Ala |
Missense |
4/11 |
- |
38 |
17-7579551-A-G |
c.136T>C |
p.Ser46Pro |
Missense |
4/11 |
- |
6 |
17-7579552-CAG-GAC |
c.133_135delinsGTC |
p.Leu45Val |
Missense |
4/11 |
- |
1 |
17-7579553-A-G |
c.134T>C |
p.Leu45Pro |
Missense |
4/11 |
- |
2 |
17-7579553-AG-GC |
c.133_134delinsGC |
p.Leu45Ala |
Missense |
4/11 |
- |
3 |
17-7579554-G-T |
c.133C>A |
p.Leu45Met |
Missense |
4/11 |
- |
1 |
17-7579554-G-C |
c.133C>G |
p.Leu45Val |
Missense |
4/11 |
- |
1 |
17-7579555-C-A |
c.132G>T |
p.Met44Ile |
Missense |
4/11 |
- |
1 |
17-7579555-C-G |
c.132G>C |
p.Met44Ile |
Missense |
4/11 |
- |
1 |
17-7579555-C-T |
c.132G>A |
p.Met44Ile |
Missense |
4/11 |
- |
1 |
17-7579556-AT-GC |
c.130_131delinsGC |
p.Met44Ala |
Missense |
4/11 |
- |
3 |
17-7579556-A-T |
c.131T>A |
p.Met44Lys |
Missense |
4/11 |
- |
3 |
17-7579559-AA-GA |
c.128delinsC |
p.Leu43Ser |
Missense |
4/11 |
- |
1 |
17-7579559-AA-GC |
c.127_128delinsGC |
p.Leu43Ala |
Missense |
4/11 |
- |
5 |
17-7579559-A-T |
c.128T>A |
p.Leu43* |
Nonsense |
4/11 |
- |
1 |
17-7579559-A-G |
c.128T>C |
p.Leu43Ser |
Missense |
4/11 |
- |
1 |
17-7579560-A-G |
c.127T>C |
p.Leu43Leu |
Synonymous |
4/11 |
- |
1 |
17-7579558-C-T |
c.129G>A |
p.Leu43Leu |
Synonymous |
4/11 |
- |
1 |
17-7579560-A-C |
c.127T>G |
p.Leu43Val |
Missense |
4/11 |
- |
1 |
17-7579561-A-G |
c.126T>C |
p.Asp42Asp |
Synonymous |
4/11 |
- |
1 |
17-7579561-ATC-TAA |
c.124_126delinsTTA |
p.Asp42Leu |
Nonsense |
4/11 |
- |
2 |
17-7579561-ATC-AAG |
c.124_125delinsCT |
p.Asp42Leu |
Missense |
4/11 |
- |
1 |
17-7579562-T-G |
c.125A>C |
p.Asp42Ala |
Missense |
4/11 |
- |
1 |
17-7579562-TC-TG |
c.124delinsC |
p.Asp42His |
Missense |
4/11 |
- |
1 |
17-7579563-C-A |
c.124G>T |
p.Asp42Tyr |
Missense |
4/11 |
- |
1 |
17-7579564-ATC-AAG |
c.121_122delinsCT |
p.Asp41Leu |
Missense |
4/11 |
- |
2 |
17-7579565-T-G |
c.122A>C |
p.Asp41Ala |
Missense |
4/11 |
- |
1 |
17-7579567-C-T |
c.120G>A |
p.Met40Ile |
Missense |
4/11 |
- |
3 |
17-7579568-AT-TA |
c.118_119delinsTA |
p.Met40* |
Nonsense |
4/11 |
- |
1 |
17-7579568-AT-GG |
c.118_119delinsCC |
p.Met40Pro |
Missense |
4/11 |
- |
1 |
17-7579568-AT-GC |
c.118_119delinsGC |
p.Met40Ala |
Missense |
4/11 |
- |
2 |
17-7579570-T-C |
c.117A>G |
p.Ala39Ala |
Synonymous |
4/11 |
- |
1 |
17-7579570-T-G |
c.117A>C |
p.Ala39Ala |
Synonymous |
4/11 |
- |
1 |
17-7579570-TG-AC |
c.116_117delinsGT |
p.Ala39Gly |
Missense |
4/11 |
- |
1 |
17-7579570-TGC-TGT |
c.115delinsA |
p.Ala39Thr |
Missense |
4/11 |
- |
4 |
17-7579570-T-A |
c.117A>T |
p.Ala39Ala |
Synonymous |
4/11 |
- |
1 |
17-7579571-G-T |
c.116C>A |
p.Ala39Glu |
Missense |
4/11 |
- |
1 |
17-7579571-GC-AG |
c.115_116delinsCT |
p.Ala39Leu |
Missense |
4/11 |
- |
2 |
17-7579572-C-G |
c.115G>C |
p.Ala39Pro |
Missense |
4/11 |
- |
1 |
17-7579574-TTGGGACGGCAAGGGGGACT-T |
c.97_115del |
p.Ser33Glnfs*5 |
SpliceAcceptorDeletion |
4/11 |
3/10 |
1 |
17-7579575-G-A |
c.112C>T |
p.Gln38* |
Nonsense |
4/11 |
- |
2 |
17-7579576-GGA-GAG |
c.109_110delinsCT |
p.Ser37Leu |
Missense |
4/11 |
- |
1 |
17-7579577-GA-AA |
c.110delinsT |
p.Ser37Phe |
Missense |
4/11 |
- |
1 |
17-7579577-G-A |
c.110C>T |
p.Ser37Phe |
Missense |
4/11 |
- |
5 |
17-7579577-G-C |
c.110C>G |
p.Ser37Cys |
Missense |
4/11 |
- |
3 |
17-7579577-G-T |
c.110C>A |
p.Ser37Tyr |
Missense |
4/11 |
- |
1 |
17-7579578-A-C |
c.109T>G |
p.Ser37Ala |
Missense |
4/11 |
- |
38 |
17-7579578-A-G |
c.109T>C |
p.Ser37Pro |
Missense |
4/11 |
- |
3 |
17-7579579-CGG-TTT |
c.106_108delinsAAA |
p.Pro36Lys |
Missense |
4/11 |
- |
1 |
17-7579579-C-T |
c.108G>A |
p.Pro36Pro |
Synonymous |
4/11 |
- |
25 |
17-7579580-GG-GA |
c.106delinsT |
p.Pro36Ser |
Missense |
4/11 |
- |
1 |
17-7579580-G-A |
c.107C>T |
p.Pro36Leu |
Missense |
4/11 |
- |
3 |
17-7579581-G-T |
c.106C>A |
p.Pro36Thr |
Missense |
4/11 |
- |
3 |
17-7579581-G-A |
c.106C>T |
p.Pro36Ser |
Missense |
4/11 |
- |
1 |
17-7579582-C-A |
c.105G>T |
p.Leu35Phe |
Missense |
4/11 |
- |
3 |
17-7579582-C-G |
c.105G>C |
p.Leu35Phe |
Missense |
4/11 |
- |
3 |
17-7579582-C-T |
c.105G>A |
p.Leu35Leu |
Synonymous |
4/11 |
- |
1 |
17-7579583-AA-GC |
c.103_104delinsGC |
p.Leu35Ala |
Missense |
4/11 |
- |
10 |
17-7579583-A-G |
c.104T>C |
p.Leu35Ser |
Missense |
4/11 |
- |
1 |
17-7579585-G-T |
c.102C>A |
p.Pro34Pro |
Synonymous |
4/11 |
- |
5 |
17-7579585-G-C |
c.102C>G |
p.Pro34Pro |
Synonymous |
4/11 |
- |
4 |
17-7579586-G-A |
c.101C>T |
p.Pro34Leu |
Missense |
4/11 |
- |
1 |
17-7579587-G-A |
c.100C>T |
p.Pro34Ser |
Missense |
4/11 |
- |
2 |
17-7579588-GGA-GAG |
c.97_98delinsCT |
p.Ser33Leu |
Missense |
4/11 |
- |
1 |
17-7579589-GA-CT |
c.97_98delinsAG |
p.Ser33Ser |
Missense |
4/11 |
- |
1 |
17-7579589-G-GC |
c.97_98insG |
p.Ser33Cysfs*10 |
SpliceAcceptorInsertion |
4/11 |
- |
1 |
17-7579589-G-C |
c.98C>G |
p.Ser33Cys |
Missense |
4/11 |
- |
6 |
17-7579589-G-A |
c.98C>T |
p.Ser33Phe |
Missense |
4/11 |
- |
8 |
17-7579589-G-T |
c.98C>A |
p.Ser33Tyr |
Missense |
4/11 |
- |
22 |
17-7579589-GA-GG |
c.97delinsC |
p.Ser33Pro |
Missense |
4/11 |
- |
1 |
17-7579590-A-T |
c.97T>A |
p.Ser33Thr |
Missense |
4/11 |
- |
1 |
17-7579590-A-G |
c.97T>C |
p.Ser33Pro |
Missense |
4/11 |
- |
3 |
17-7579590-A-C |
c.97T>G |
p.Ser33Ala |
Missense |
4/11 |
- |
19 |
17-7579591-C-A |
c.97-1G>T |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579592-T-G |
c.97-2A>C |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579596-G-A |
c.97-6C>T |
- |
IntronicSNV |
- |
3/10 |
2 |
17-7579601-G-C |
c.97-11C>G |
- |
IntronicSNV |
- |
3/10 |
2 |
17-7579618-A-T |
c.97-28T>A |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579619-G-T |
c.97-29C>A |
- |
IntronicSNV |
- |
3/10 |
15 |
17-7579620-G-T |
c.97-30C>A |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579642-C-A |
c.97-52G>T |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579642-C-G |
c.97-52G>C |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579642-C-T |
c.97-52G>A |
- |
IntronicSNV |
- |
3/10 |
2 |
17-7579647-CC-C |
c.97-52del |
- |
IntronicDeletion |
- |
3/10 |
1 |
17-7579652-CC-C |
c.96+50del |
- |
IntronicDeletion |
- |
3/10 |
1 |
17-7579659-GT-G |
c.96+41del |
- |
IntronicDeletion |
- |
3/10 |
1 |
17-7579669-CTCCAGGTCCCCAGCCC-C |
c.96+41_97-54del |
- |
IntronicDeletion |
- |
3/10 |
4 |
17-7579699-C-T |
c.96+1G>A |
- |
IntronicSNV |
- |
3/10 |
1 |
17-7579701-AG-GC |
c.94_95delinsGC |
p.Leu32Ala |
Missense |
3/11 |
- |
4 |
17-7579701-AG-GA |
c.94_95delinsTC |
p.Leu32Ser |
Missense |
3/11 |
- |
1 |
17-7579701-A-G |
c.95T>C |
p.Leu32Pro |
Missense |
3/11 |
- |
2 |
17-7579702-G-T |
c.94C>A |
p.Leu32Met |
Missense |
3/11 |
- |
1 |
17-7579703-A-T |
c.93T>A |
p.Val31Val |
Synonymous |
3/11 |
- |
1 |
17-7579703-A-C |
c.93T>G |
p.Val31Val |
Synonymous |
3/11 |
- |
1 |
17-7579703-A-G |
c.93T>C |
p.Val31Val |
Synonymous |
3/11 |
- |
1 |
17-7579704-AC-TG |
c.91_92delinsCA |
p.Val31His |
Missense |
3/11 |
- |
1 |
17-7579705-C-T |
c.91G>A |
p.Val31Ile |
Missense |
3/11 |
- |
19 |
17-7579706-GTT-CAA |
c.88_90delinsTTG |
p.Asn30Leu |
Missense |
3/11 |
- |
1 |
17-7579706-GTT-GAG |
c.88_89delinsCT |
p.Asn30Leu |
Missense |
3/11 |
- |
1 |
17-7579707-T-C |
c.89A>G |
p.Asn30Ser |
Missense |
3/11 |
- |
1 |
17-7579707-TT-GC |
c.88_89delinsGC |
p.Asn30Ala |
Missense |
3/11 |
- |
1 |
17-7579708-TT-T |
c.89del |
p.Asn30Thrfs*14 |
Frameshift |
3/11 |
- |
1 |
17-7579708-T-C |
c.88A>G |
p.Asn30Asp |
Missense |
3/11 |
- |
2 |
17-7579709-GTT-CAA |
c.85_87delinsTTG |
p.Asn29Leu |
Missense |
3/11 |
- |
1 |
17-7579709-GTT-GAG |
c.85_86delinsCT |
p.Asn29Leu |
Missense |
3/11 |
- |
1 |
17-7579709-G-C |
c.87C>G |
p.Asn29Lys |
Missense |
3/11 |
- |
2 |
17-7579709-G-T |
c.87C>A |
p.Asn29Lys |
Missense |
3/11 |
- |
2 |
17-7579710-T-A |
c.86A>T |
p.Asn29Ile |
Missense |
3/11 |
- |
2 |
17-7579710-TT-GG |
c.85_86delinsCC |
p.Asn29Pro |
Missense |
3/11 |
- |
1 |
17-7579710-TT-GC |
c.85_86delinsGC |
p.Asn29Ala |
Missense |
3/11 |
- |
1 |
17-7579710-T-C |
c.86A>G |
p.Asn29Ser |
Missense |
3/11 |
- |
6 |
17-7579711-T-C |
c.85A>G |
p.Asn29Asp |
Missense |
3/11 |
- |
3 |
17-7579712-T-A |
c.84A>T |
p.Glu28Asp |
Missense |
3/11 |
- |
2 |
17-7579712-T-G |
c.84A>C |
p.Glu28Asp |
Missense |
3/11 |
- |
2 |
17-7579712-TTC-TGT |
c.82_83delinsAC |
p.Glu28Thr |
Missense |
3/11 |
- |
1 |
17-7579713-T-TT |
c.86dup |
p.Asn29Lysfs*14 |
Frameshift |
3/11 |
- |
1 |
17-7579713-T-A |
c.83A>T |
p.Glu28Val |
Missense |
3/11 |
- |
1 |
17-7579714-C-G |
c.82G>C |
p.Glu28Gln |
Missense |
3/11 |
- |
1 |
17-7579714-C-T |
c.82G>A |
p.Glu28Lys |
Missense |
3/11 |
- |
2 |
17-7579715-AGG-TAA |
c.79_81delinsTTA |
p.Pro27Leu |
Nonsense |
3/11 |
- |
2 |
17-7579715-AGG-AAG |
c.80delinsT |
p.Pro27Leu |
Missense |
3/11 |
- |
5 |
17-7579715-CA-C |
c.81del |
p.Glu28Lysfs*16 |
Frameshift |
3/11 |
- |
1 |
17-7579715-A-C |
c.81T>G |
p.Pro27Pro |
Synonymous |
3/11 |
- |
2 |
17-7579715-A-T |
c.81T>A |
p.Pro27Pro |
Synonymous |
3/11 |
- |
2 |
17-7579715-A-G |
c.81T>C |
p.Pro27Pro |
Synonymous |
3/11 |
- |
2 |
17-7579716-G-A |
c.80C>T |
p.Pro27Leu |
Missense |
3/11 |
- |
5 |
17-7579716-G-C |
c.80C>G |
p.Pro27Arg |
Missense |
3/11 |
- |
3 |
17-7579716-GG-GA |
c.79delinsT |
p.Pro27Ser |
Missense |
3/11 |
- |
1 |
17-7579716-GG-TA |
c.79_80delinsTA |
p.Pro27Tyr |
Missense |
3/11 |
- |
2 |
17-7579716-GG-AT |
c.79_80delinsAT |
p.Pro27Ile |
Missense |
3/11 |
- |
1 |
17-7579716-GG-AA |
c.79_80delinsTT |
p.Pro27Phe |
Missense |
3/11 |
- |
4 |
17-7579716-GG-TT |
c.79_80delinsAA |
p.Pro27Asn |
Missense |
3/11 |
- |
2 |
17-7579716-GG-TG |
c.80delinsA |
p.Pro27His |
Missense |
3/11 |
- |
1 |
17-7579717-G-A |
c.79C>T |
p.Pro27Ser |
Missense |
3/11 |
- |
11 |
17-7579717-G-C |
c.79C>G |
p.Pro27Ala |
Missense |
3/11 |
- |
8 |
17-7579717-G-T |
c.79C>A |
p.Pro27Thr |
Missense |
3/11 |
- |
2 |
17-7579717-GG-G |
c.80del |
p.Pro27Leufs*17 |
Frameshift |
3/11 |
- |
2 |
17-7579719-AG-GC |
c.76_77delinsGC |
p.Leu26Ala |
Missense |
3/11 |
- |
10 |
17-7579719-A-T |
c.77T>A |
p.Leu26His |
Missense |
3/11 |
- |
1 |
17-7579719-AA-A |
c.78del |
p.Pro27Leufs*17 |
Frameshift |
3/11 |
- |
1 |
17-7579720-G-C |
c.76C>G |
p.Leu26Val |
Missense |
3/11 |
- |
1 |
17-7579720-G-A |
c.76C>T |
p.Leu26Phe |
Missense |
3/11 |
- |
1 |
17-7579720-G-T |
c.76C>A |
p.Leu26Ile |
Missense |
3/11 |
- |
2 |
17-7579722-C-A |
c.75-1G>T |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579722-C-G |
c.75-1G>C |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579739-A-C |
c.75-18T>G |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579763-C-T |
c.75-42G>A |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579801-G-C |
c.74+38C>G |
- |
IntronicSNV |
- |
2/10 |
34 |
17-7579801-G-A |
c.74+38C>T |
- |
IntronicSNV |
- |
2/10 |
29 |
17-7579801-G-T |
c.74+38C>A |
- |
IntronicSNV |
- |
2/10 |
29 |
17-7579823-C-G |
c.74+16G>C |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579825-A-G |
c.74+14T>C |
- |
IntronicSNV |
- |
2/10 |
1 |
17-7579839-A-G |
c.74T>C |
p.Leu25Pro |
Missense |
2/11 |
- |
2 |
17-7579839-AG-GA |
c.73_74delinsTC |
p.Leu25Ser |
Missense |
2/11 |
- |
1 |
17-7579839-AG-GC |
c.73_74delinsGC |
p.Leu25Ala |
Missense |
2/11 |
- |
4 |
17-7579839-A-C |
c.74T>G |
p.Leu25Arg |
Missense |
2/11 |
- |
2 |
17-7579839-AG-TC |
c.73_74delinsGA |
p.Leu25Glu |
Missense |
2/11 |
- |
1 |
17-7579839-A-T |
c.74T>A |
p.Leu25Gln |
Missense |
2/11 |
- |
32 |
17-7579841-T-A |
c.72A>T |
p.Lys24Asn |
Missense |
2/11 |
- |
8 |
17-7579841-T-G |
c.72A>C |
p.Lys24Asn |
Missense |
2/11 |
- |
8 |
17-7579842-TT-GC |
c.70_71delinsGC |
p.Lys24Ala |
Missense |
2/11 |
- |
1 |
17-7579842-T-C |
c.71A>G |
p.Lys24Arg |
Missense |
2/11 |
- |
9 |
17-7579843-TT-T |
c.72del |
p.Lys24Asnfs*20 |
Frameshift |
2/11 |
- |
2 |
17-7579843-T-A |
c.70A>T |
p.Lys24* |
Nonsense |
2/11 |
- |
1 |
17-7579843-T-C |
c.70A>G |
p.Lys24Glu |
Missense |
2/11 |
- |
2 |
17-7579844-CC-TT |
c.68_69delinsAA |
p.Trp23* |
Missense |
2/11 |
- |
1 |
17-7579845-C-T |
c.68G>A |
p.Trp23* |
Nonsense |
2/11 |
- |
1 |
17-7579844-C-T |
c.69G>A |
p.Trp23* |
Nonsense |
2/11 |
- |
1 |
17-7579845-CA-GC |
c.67_68delinsGC |
p.Trp23Ala |
Missense |
2/11 |
- |
7 |
17-7579845-C-G |
c.68G>C |
p.Trp23Ser |
Missense |
2/11 |
- |
31 |
17-7579846-A-C |
c.67T>G |
p.Trp23Gly |
Missense |
2/11 |
- |
2 |
17-7579847-T-A |
c.66A>T |
p.Leu22Leu |
Synonymous |
2/11 |
- |
3 |
17-7579847-TAG-TGG |
c.65delinsC |
p.Leu22Pro |
Missense |
2/11 |
- |
2 |
17-7579847-T-G |
c.66A>C |
p.Leu22Leu |
Synonymous |
2/11 |
- |
3 |
17-7579847-T-C |
c.66A>G |
p.Leu22Leu |
Synonymous |
2/11 |
- |
3 |
17-7579849-G-A |
c.64C>T |
p.Leu22Leu |
Synonymous |
2/11 |
- |
3 |
17-7579848-AG-GG |
c.65delinsC |
p.Leu22Pro |
Missense |
2/11 |
- |
3 |
17-7579848-A-C |
c.65T>G |
p.Leu22Arg |
Missense |
2/11 |
- |
2 |
17-7579848-A-T |
c.65T>A |
p.Leu22Gln |
Missense |
2/11 |
- |
67 |
17-7579848-AG-TC |
c.64_65delinsGA |
p.Leu22Glu |
Missense |
2/11 |
- |
1 |
17-7579848-AG-GC |
c.64_65delinsGC |
p.Leu22Ala |
Missense |
2/11 |
- |
9 |
17-7579849-G-C |
c.64C>G |
p.Leu22Val |
Missense |
2/11 |
- |
1 |
17-7579849-G-T |
c.64C>A |
p.Leu22Ile |
Missense |
2/11 |
- |
1 |
17-7579850-G-T |
c.63C>A |
p.Asp21Glu |
Missense |
2/11 |
- |
1 |
17-7579850-G-A |
c.63C>T |
p.Asp21Asp |
Synonymous |
2/11 |
- |
6 |
17-7579850-G-C |
c.63C>G |
p.Asp21Glu |
Missense |
2/11 |
- |
1 |
17-7579851-T-G |
c.62A>C |
p.Asp21Ala |
Missense |
2/11 |
- |
4 |
17-7579851-TC-TG |
c.61delinsC |
p.Asp21His |
Missense |
2/11 |
- |
1 |
17-7579852-C-A |
c.61G>T |
p.Asp21Tyr |
Missense |
2/11 |
- |
1 |
17-7579852-C-T |
c.61G>A |
p.Asp21Asn |
Missense |
2/11 |
- |
2 |
17-7579853-TG-AT |
c.59_60delinsAT |
p.Ser20Tyr |
Missense |
2/11 |
- |
1 |
17-7579853-TGA-GAC |
c.58_60delinsGTC |
p.Ser20Val |
Missense |
2/11 |
- |
10 |
17-7579853-TGA-AAC |
c.58_60delinsGTT |
p.Ser20Val |
Missense |
2/11 |
- |
1 |
17-7579853-TG-GT |
c.59_60delinsAC |
p.Ser20Tyr |
Missense |
2/11 |
- |
5 |
17-7579855-A-G |
c.58T>C |
p.Ser20Pro |
Missense |
2/11 |
- |
5 |
17-7579855-A-C |
c.58T>G |
p.Ser20Ala |
Missense |
2/11 |
- |
31 |
17-7579855-A-T |
c.58T>A |
p.Ser20Thr |
Missense |
2/11 |
- |
1 |
17-7579856-A-G |
c.57T>C |
p.Phe19Phe |
Synonymous |
2/11 |
- |
1 |
17-7579856-AAA-GAG |
c.55_57delinsCTC |
p.Phe19Leu |
Missense |
2/11 |
- |
1 |
17-7579857-A-G |
c.56T>C |
p.Phe19Ser |
Missense |
2/11 |
- |
2 |
17-7579857-AA-GC |
c.55_56delinsGC |
p.Phe19Ala |
Missense |
2/11 |
- |
20 |
17-7579857-AA-GA |
c.56delinsC |
p.Phe19Ser |
Missense |
2/11 |
- |
1 |
17-7579857-AA-CG |
c.55_56delinsCG |
p.Phe19Arg |
Missense |
2/11 |
- |
1 |
17-7579859-TGT-CAT |
c.53_54delinsTG |
p.Thr18Met |
Missense |
2/11 |
- |
2 |
17-7579859-T-C |
c.54A>G |
p.Thr18Thr |
Synonymous |
2/11 |
- |
1 |
17-7579859-T-A |
c.54A>T |
p.Thr18Thr |
Synonymous |
2/11 |
- |
1 |
17-7579859-T-G |
c.54A>C |
p.Thr18Thr |
Synonymous |
2/11 |
- |
1 |
17-7579859-TGT-GAC |
c.52_54delinsGTC |
p.Thr18Val |
Missense |
2/11 |
- |
5 |
17-7579859-AT-A |
c.54del |
p.Ser20Glnfs*24 |
Frameshift |
2/11 |
- |
1 |
17-7579860-GT-GA |
c.52delinsT |
p.Thr18Ser |
Missense |
2/11 |
- |
5 |
17-7579860-G-T |
c.53C>A |
p.Thr18Lys |
Missense |
2/11 |
- |
1 |
17-7579861-T-G |
c.52A>C |
p.Thr18Pro |
Missense |
2/11 |
- |
2 |
17-7579861-T-A |
c.52A>T |
p.Thr18Ser |
Missense |
2/11 |
- |
4 |
17-7579861-T-C |
c.52A>G |
p.Thr18Ala |
Missense |
2/11 |
- |
14 |
17-7579862-T-G |
c.51A>C |
p.Glu17Asp |
Missense |
2/11 |
- |
3 |
17-7579862-T-A |
c.51A>T |
p.Glu17Asp |
Missense |
2/11 |
- |
3 |
17-7579862-TTTC-T |
c.49_51del |
p.Glu17del |
InFrameDeletion |
2/11 |
- |
1 |
17-7579862-TTC-TGT |
c.49_50delinsAC |
p.Glu17Thr |
Missense |
2/11 |
- |
1 |
17-7579863-T-G |
c.50A>C |
p.Glu17Ala |
Missense |
2/11 |
- |
1 |
17-7579863-T-TT |
c.52dup |
p.Thr18Asnfs*11 |
Frameshift |
2/11 |
- |
1 |
17-7579864-C-T |
c.49G>A |
p.Glu17Lys |
Missense |
2/11 |
- |
32 |
17-7579866-T-A |
c.47A>T |
p.Gln16Leu |
Missense |
2/11 |
- |
6 |
17-7579866-TG-GC |
c.46_47delinsGC |
p.Gln16Ala |
Missense |
2/11 |
- |
1 |
17-7579866-CT-C |
c.47del |
p.Gln16Argfs*28 |
Frameshift |
2/11 |
- |
1 |
17-7579866-TG-TC |
c.46delinsG |
p.Gln16Glu |
Missense |
2/11 |
- |
1 |
17-7579867-G-A |
c.46C>T |
p.Gln16* |
Nonsense |
2/11 |
- |
2 |
17-7579867-G-T |
c.46C>A |
p.Gln16Lys |
Missense |
2/11 |
- |
2 |
17-7579868-ACT-GAG |
c.43_45delinsCTC |
p.Ser15Leu |
Missense |
2/11 |
- |
14 |
17-7579868-ACT-TGA |
c.43_45delinsTCA |
p.Ser15Ser |
Nonsense |
2/11 |
- |
1 |
17-7579869-C-G |
c.44G>C |
p.Ser15Thr |
Missense |
2/11 |
- |
1 |
17-7579869-C-A |
c.44G>T |
p.Ser15Ile |
Missense |
2/11 |
- |
1 |
17-7579869-C-T |
c.44G>A |
p.Ser15Asn |
Missense |
2/11 |
- |
2 |
17-7579869-CT-CC |
c.43delinsG |
p.Ser15Gly |
Missense |
2/11 |
- |
42 |
17-7579869-CT-CA |
c.43delinsT |
p.Ser15Cys |
Missense |
2/11 |
- |
2 |
17-7579869-CT-GA |
c.43_44delinsTC |
p.Ser15Ser |
Missense |
2/11 |
- |
28 |
17-7579869-CT-GC |
c.43_44delinsGC |
p.Ser15Ala |
Missense |
2/11 |
- |
134 |
17-7579869-CT-TT |
c.44delinsA |
p.Ser15Asn |
Missense |
2/11 |
- |
4 |
17-7579870-T-A |
c.43A>T |
p.Ser15Cys |
Missense |
2/11 |
- |
27 |
17-7579870-T-C |
c.43A>G |
p.Ser15Gly |
Missense |
2/11 |
- |
4 |
17-7579871-TCAG-T |
c.40_42del |
p.Leu14del |
InFrameDeletion |
2/11 |
- |
1 |
17-7579872-AG-GC |
c.40_41delinsGC |
p.Leu14Ala |
Missense |
2/11 |
- |
1 |
17-7579872-AG-TG |
c.41delinsA |
p.Leu14Gln |
Missense |
2/11 |
- |
1 |
17-7579872-A-T |
c.41T>A |
p.Leu14Gln |
Missense |
2/11 |
- |
5 |
17-7579873-AG-A |
c.40del |
p.Leu14* |
Frameshift |
2/11 |
- |
1 |
17-7579874-A-T |
c.39T>A |
p.Pro13Pro |
Synonymous |
2/11 |
- |
1 |
17-7579874-A-C |
c.39T>G |
p.Pro13Pro |
Synonymous |
2/11 |
- |
1 |
17-7579874-A-G |
c.39T>C |
p.Pro13Pro |
Synonymous |
2/11 |
- |
1 |
17-7579875-G-A |
c.38C>T |
p.Pro13Leu |
Missense |
2/11 |
- |
6 |
17-7579875-GG-TG |
c.38delinsA |
p.Pro13His |
Missense |
2/11 |
- |
2 |
17-7579875-GG-AT |
c.37_38delinsAT |
p.Pro13Ile |
Missense |
2/11 |
- |
2 |
17-7579876-G-A |
c.37C>T |
p.Pro13Ser |
Missense |
2/11 |
- |
2 |
17-7579876-G-C |
c.37C>G |
p.Pro13Ala |
Missense |
2/11 |
- |
1 |
17-7579877-G-A |
c.36C>T |
p.Pro12Pro |
Synonymous |
2/11 |
- |
2 |
17-7579877-G-C |
c.36C>G |
p.Pro12Pro |
Synonymous |
2/11 |
- |
2 |
17-7579877-GGG-TGG |
c.36delinsA |
p.Pro12Pro |
Missense |
2/11 |
- |
2 |
17-7579877-G-T |
c.36C>A |
p.Pro12Pro |
Synonymous |
2/11 |
- |
2 |
17-7579878-G-A |
c.35C>T |
p.Pro12Leu |
Missense |
2/11 |
- |
5 |
17-7579878-G-T |
c.35C>A |
p.Pro12His |
Missense |
2/11 |
- |
2 |
17-7579878-G-C |
c.35C>G |
p.Pro12Arg |
Missense |
2/11 |
- |
1 |
17-7579878-GG-AT |
c.34_35delinsAT |
p.Pro12Ile |
Missense |
2/11 |
- |
2 |
17-7579879-G-T |
c.34C>A |
p.Pro12Thr |
Missense |
2/11 |
- |
2 |
17-7579879-G-C |
c.34C>G |
p.Pro12Ala |
Missense |
2/11 |
- |
13 |
17-7579879-G-A |
c.34C>T |
p.Pro12Ser |
Missense |
2/11 |
- |
1 |
17-7579881-TC-AG |
c.31_32delinsCT |
p.Glu11Leu |
Missense |
2/11 |
- |
2 |
17-7579881-TC-CC |
c.32delinsG |
p.Glu11Gly |
Missense |
2/11 |
- |
1 |
17-7579881-T-G |
c.32A>C |
p.Glu11Ala |
Missense |
2/11 |
- |
2 |
17-7579882-C-G |
c.31G>C |
p.Glu11Gln |
Missense |
2/11 |
- |
7 |
17-7579882-C-T |
c.31G>A |
p.Glu11Lys |
Missense |
2/11 |
- |
3 |
17-7579883-G-A |
c.30C>T |
p.Val10Val |
Synonymous |
2/11 |
- |
3 |
17-7579883-G-T |
c.30C>A |
p.Val10Val |
Synonymous |
2/11 |
- |
3 |
17-7579883-G-C |
c.30C>G |
p.Val10Val |
Synonymous |
2/11 |
- |
3 |
17-7579884-AC-CG |
c.28_29delinsCG |
p.Val10Arg |
Missense |
2/11 |
- |
4 |
17-7579884-AC-TG |
c.28_29delinsCA |
p.Val10His |
Missense |
2/11 |
- |
1 |
17-7579885-C-T |
c.28G>A |
p.Val10Ile |
Missense |
2/11 |
- |
4 |
17-7579887-C-T |
c.26G>A |
p.Ser9Asn |
Missense |
2/11 |
- |
1 |
17-7579887-C-G |
c.26G>C |
p.Ser9Thr |
Missense |
2/11 |
- |
1 |
17-7579888-T-C |
c.25A>G |
p.Ser9Gly |
Missense |
2/11 |
- |
1 |
17-7579891-G-A |
c.22C>T |
p.Pro8Ser |
Missense |
2/11 |
- |
2 |
17-7579894-C-A |
c.19G>T |
p.Asp7Tyr |
Missense |
2/11 |
- |
2 |
17-7579896-G-T |
c.17C>A |
p.Ser6* |
Nonsense |
2/11 |
- |
1 |
17-7579896-G-C |
c.17C>G |
p.Ser6* |
Nonsense |
2/11 |
- |
1 |
17-7579896-G-GTT |
c.16_17insAA |
p.Ser6* |
Nonsense |
2/11 |
- |
1 |
17-7579896-TG-T |
c.17del |
p.Ser6* |
Frameshift |
2/11 |
- |
1 |
17-7579900-G-A |
c.13C>T |
p.Gln5* |
Nonsense |
2/11 |
- |
1 |
17-7579902-G-A |
c.11C>T |
p.Pro4Leu |
Missense |
2/11 |
- |
1 |
17-7579910-C-T |
c.3G>A |
p.Met1? |
Missense |
2/11 |
- |
1 |
17-7579912-T-C |
c.1A>G |
p.Met1? |
Missense |
2/11 |
- |
1 |
17-7580052-C-T |
c.-28-112G>A |
- |
IntronicSNV |
- |
1/10 |
18 |
17-7580840-T-G |
c.-28-900A>C |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7580840-T-A |
c.-28-900A>T |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7580840-T-C |
c.-28-900A>G |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7580941-C-T |
c.-28-1001G>A |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7581042-A-G |
c.-28-1102T>C |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7581228-G-A |
c.-28-1288C>T |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7583013-C-G |
c.-28-3073G>C |
- |
IntronicSNV |
- |
1/10 |
9 |
17-7583072-A-G |
c.-28-3132T>C |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7583083-G-A |
c.-28-3143C>T |
- |
IntronicSNV |
- |
1/10 |
11 |
17-7583083-G-C |
c.-28-3143C>G |
- |
IntronicSNV |
- |
1/10 |
11 |
17-7583124-G-C |
c.-28-3184C>G |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7583391-G-C |
c.-28-3451C>G |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7584400-T-C |
c.-28-4460A>G |
- |
IntronicSNV |
- |
1/10 |
1 |
17-7587899-T-C |
c.-29+2796A>G |
- |
intron_variant |
- |
1/10 |
1 |
17-7588006-A-C |
c.-29+2689T>G |
- |
intron_variant |
- |
1/10 |
2 |
17-7588560-A-G |
c.-29+2135T>C |
- |
intron_variant |
- |
1/10 |
4 |
17-7589311-G-C |
c.-29+1384C>G |
- |
intron_variant |
- |
1/10 |
7 |
17-7589751-C-G |
c.-29+944G>C |
- |
intron_variant |
- |
1/10 |
1 |
17-7589751-C-A |
c.-29+944G>T |
- |
intron_variant |
- |
1/10 |
1 |
17-7590777-T-C |
c.-111A>G |
- |
5_prime_UTR_variant |
1/11 |
- |
1 |