Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99600568T>A | CA440329962 | MTTP | c.1071T>A (p.Pro357=) c.822T>A (p.Pro274=) c.1152T>A (p.Pro384=) | |
4 | g.99600568T>C | CA440329961 | MTTP | c.1071T>C (p.Pro357=) c.822T>C (p.Pro274=) c.1152T>C (p.Pro384=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600568T>G | CA440329960 | MTTP | c.1071T>G (p.Pro357=) c.822T>G (p.Pro274=) c.1152T>G (p.Pro384=) | |
4 | g.99600568T= | CA1480079146 | MTTP | c.1071T= (p.Pro357=) c.822T= (p.Pro274=) c.1152T= (p.Pro384=) | |
4 | g.99600569C>A | CA357507869 | MTTP | c.1072C>A (p.Gln358Lys) c.823C>A (p.Gln275Lys) c.1153C>A (p.Gln385Lys) | |
4 | g.99600569C= | CA1480079147 | MTTP | c.1072C= (p.Gln358=) c.823C= (p.Gln275=) c.1153C= (p.Gln385=) | |
4 | g.99600569C>G | CA357507870 | MTTP | c.1072C>G (p.Gln358Glu) c.823C>G (p.Gln275Glu) c.1153C>G (p.Gln385Glu) | |
4 | g.99600569C>T | CA357507871 | MTTP | c.1072C>T (p.Gln358Ter) c.823C>T (p.Gln275Ter) c.1153C>T (p.Gln385Ter) | dbSNP COSMIC |
4 | g.99600570A>C | CA357507872 | MTTP | c.1073A>C (p.Gln358Pro) c.824A>C (p.Gln275Pro) c.1154A>C (p.Gln385Pro) | |
4 | g.99600570A>G | CA357507873 | MTTP | c.1073A>G (p.Gln358Arg) c.824A>G (p.Gln275Arg) c.1154A>G (p.Gln385Arg) | |
4 | g.99600570A>T | CA357507874 | MTTP | c.1073A>T (p.Gln358Leu) c.824A>T (p.Gln275Leu) c.1154A>T (p.Gln385Leu) | |
4 | g.99600571G>A | CA440329963 | MTTP | c.1074G>A (p.Gln358=) c.825G>A (p.Gln275=) c.1155G>A (p.Gln385=) | gnomAD v4 |
4 | g.99600571G>C | CA102631330 | MTTP | c.1074G>C (p.Gln358His) c.825G>C (p.Gln275His) c.1155G>C (p.Gln385His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600571G= | CA1480079148 | MTTP | c.1074G= (p.Gln358=) c.825G= (p.Gln275=) c.1155G= (p.Gln385=) | |
4 | g.99600571G>T | CA357507875 | MTTP | c.1074G>T (p.Gln358His) c.825G>T (p.Gln275His) c.1155G>T (p.Gln385His) | |
4 | g.99600572C>A | CA357507876 | MTTP | c.1075C>A (p.Leu359Met) c.826C>A (p.Leu276Met) c.1156C>A (p.Leu386Met) | gnomAD v4 |
4 | g.99600572C>G | CA357507877 | MTTP | c.1075C>G (p.Leu359Val) c.826C>G (p.Leu276Val) c.1156C>G (p.Leu386Val) | |
4 | g.99600572C>T | CA440329964 | MTTP | c.1075C>T (p.Leu359=) c.826C>T (p.Leu276=) c.1156C>T (p.Leu386=) | |
4 | g.99600572_99600579delinsCTGGTGGA | CA1480079149 | MTTP | c.1075_1082delinsCTGGTGGA (p.Leu359=) c.826_833delinsCTGGTGGA (p.Leu276=) c.1156_1163delinsCTGGTGGA (p.Leu386=) | |
4 | g.99600573del | CA2671534167 | MTTP | c.1076del (p.Leu359ArgfsTer14) c.827del (p.Leu276ArgfsTer14) c.1157del (p.Leu386ArgfsTer14) | gnomAD v4 |
4 | g.99600573T>A | CA357507878 | MTTP | c.1076T>A (p.Leu359Gln) c.827T>A (p.Leu276Gln) c.1157T>A (p.Leu386Gln) | |
4 | g.99600573T>C | CA357507879 | MTTP | c.1076T>C (p.Leu359Pro) c.827T>C (p.Leu276Pro) c.1157T>C (p.Leu386Pro) | gnomAD v4 |
4 | g.99600573T>G | CA357507880 | MTTP | c.1076T>G (p.Leu359Arg) c.827T>G (p.Leu276Arg) c.1157T>G (p.Leu386Arg) | |
4 | g.99600575_99600581del | CA553568412 | MTTP | c.1078_1084del (p.Val360LeufsTer11) c.829_835del (p.Val277LeufsTer11) c.1159_1165del (p.Val387LeufsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600574G>A | CA440329965 | MTTP | c.1077G>A (p.Leu359=) c.828G>A (p.Leu276=) c.1158G>A (p.Leu386=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600574G>C | CA3022031 | MTTP | c.1077G>C (p.Leu359=) c.828G>C (p.Leu276=) c.1158G>C (p.Leu386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600574G= | CA1480079150 | MTTP | c.1077G= (p.Leu359=) c.828G= (p.Leu276=) c.1158G= (p.Leu386=) | |
4 | g.99600574G>T | CA440329966 | MTTP | c.1077G>T (p.Leu359=) c.828G>T (p.Leu276=) c.1158G>T (p.Leu386=) | |
4 | g.99600575G>A | CA3022032 | MTTP | c.1078G>A (p.Val360Met) c.829G>A (p.Val277Met) c.1159G>A (p.Val387Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600575G>C | CA357507881 | MTTP | c.1078G>C (p.Val360Leu) c.829G>C (p.Val277Leu) c.1159G>C (p.Val387Leu) | |
4 | g.99600575G= | CA1480079151 | MTTP | c.1078G= (p.Val360=) c.829G= (p.Val277=) c.1159G= (p.Val387=) | |
4 | g.99600575G>T | CA357507882 | MTTP | c.1078G>T (p.Val360Leu) c.829G>T (p.Val277Leu) c.1159G>T (p.Val387Leu) | |
4 | g.99600576T>A | CA357507883 | MTTP | c.1079T>A (p.Val360Glu) c.830T>A (p.Val277Glu) c.1160T>A (p.Val387Glu) | |
4 | g.99600576T>C | CA357507884 | MTTP | c.1079T>C (p.Val360Ala) c.830T>C (p.Val277Ala) c.1160T>C (p.Val387Ala) | |
4 | g.99600576T>G | CA357507885 | MTTP | c.1079T>G (p.Val360Gly) c.830T>G (p.Val277Gly) c.1160T>G (p.Val387Gly) | |
4 | g.99600577G>A | CA440329967 | MTTP | c.1080G>A (p.Val360=) c.831G>A (p.Val277=) c.1161G>A (p.Val387=) | ClinVar |
4 | g.99600577G>C | CA440329968 | MTTP | c.1080G>C (p.Val360=) c.831G>C (p.Val277=) c.1161G>C (p.Val387=) | |
4 | g.99600577G>T | CA440329969 | MTTP | c.1080G>T (p.Val360=) c.831G>T (p.Val277=) c.1161G>T (p.Val387=) | |
4 | g.99600577_99600578delinsAA | CA645520127 | MTTP | c.1080_1081delinsAA (p.Asp361Asn) c.831_832delinsAA (p.Asp278Asn) c.1161_1162delinsAA (p.Asp388Asn) | COSMIC |
4 | g.99600578G>A | CA357507886 | MTTP | c.1081G>A (p.Asp361Asn) c.832G>A (p.Asp278Asn) c.1162G>A (p.Asp388Asn) | |
4 | g.99600578G>C | CA357507888 | MTTP | c.1081G>C (p.Asp361His) c.832G>C (p.Asp278His) c.1162G>C (p.Asp388His) | gnomAD v4 |
4 | g.99600578G>T | CA357507887 | MTTP | c.1081G>T (p.Asp361Tyr) c.832G>T (p.Asp278Tyr) c.1162G>T (p.Asp388Tyr) | |
4 | g.99600579A>C | CA357507889 | MTTP | c.1082A>C (p.Asp361Ala) c.833A>C (p.Asp278Ala) c.1163A>C (p.Asp388Ala) | |
4 | g.99600579A>G | CA357507891 | MTTP | c.1082A>G (p.Asp361Gly) c.833A>G (p.Asp278Gly) c.1163A>G (p.Asp388Gly) | |
4 | g.99600579A>T | CA357507894 | MTTP | c.1082A>T (p.Asp361Val) c.833A>T (p.Asp278Val) c.1163A>T (p.Asp388Val) | |
4 | g.99600580T>A | CA357507895 | MTTP | c.1083T>A (p.Asp361Glu) c.834T>A (p.Asp278Glu) c.1164T>A (p.Asp388Glu) | |
4 | g.99600580T>C | CA440329970 | MTTP | c.1083T>C (p.Asp361=) c.834T>C (p.Asp278=) c.1164T>C (p.Asp388=) | |
4 | g.99600580T>G | CA357507898 | MTTP | c.1083T>G (p.Asp361Glu) c.834T>G (p.Asp278Glu) c.1164T>G (p.Asp388Glu) | |
4 | g.99600581G>A | CA3022033 | MTTP | c.1084G>A (p.Ala362Thr) c.835G>A (p.Ala279Thr) c.1165G>A (p.Ala389Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600581G>C | CA357507900 | MTTP | c.1084G>C (p.Ala362Pro) c.835G>C (p.Ala279Pro) c.1165G>C (p.Ala389Pro) | |
4 | g.99600581G= | CA1480079152 | MTTP | c.1084G= (p.Ala362=) c.835G= (p.Ala279=) c.1165G= (p.Ala389=) | |
4 | g.99600581G>T | CA357507902 | MTTP | c.1084G>T (p.Ala362Ser) c.835G>T (p.Ala279Ser) c.1165G>T (p.Ala389Ser) | |
4 | g.99600582C>A | CA357507905 | MTTP | c.1085C>A (p.Ala362Asp) c.836C>A (p.Ala279Asp) c.1166C>A (p.Ala389Asp) | COSMIC |
4 | g.99600582C>G | CA357507907 | MTTP | c.1085C>G (p.Ala362Gly) c.836C>G (p.Ala279Gly) c.1166C>G (p.Ala389Gly) | gnomAD v4 |
4 | g.99600582C>T | CA357507908 | MTTP | c.1085C>T (p.Ala362Val) c.836C>T (p.Ala279Val) c.1166C>T (p.Ala389Val) | |
4 | g.99600583T>A | CA440329971 | MTTP | c.1086T>A (p.Ala362=) c.837T>A (p.Ala279=) c.1167T>A (p.Ala389=) | gnomAD v4 |
4 | g.99600583T>C | CA440329972 | MTTP | c.1086T>C (p.Ala362=) c.837T>C (p.Ala279=) c.1167T>C (p.Ala389=) | |
4 | g.99600583T>G | CA440329973 | MTTP | c.1086T>G (p.Ala362=) c.837T>G (p.Ala279=) c.1167T>G (p.Ala389=) | |
4 | g.99600584G>A | CA357507913 | MTTP | c.1087G>A (p.Val363Ile) c.838G>A (p.Val280Ile) c.1168G>A (p.Val390Ile) | dbSNP |
4 | g.99600584G>C | CA357507911 | MTTP | c.1087G>C (p.Val363Leu) c.838G>C (p.Val280Leu) c.1168G>C (p.Val390Leu) | dbSNP |
4 | g.99600584G= | CA1480079153 | MTTP | c.1087G= (p.Val363=) c.838G= (p.Val280=) c.1168G= (p.Val390=) | |
4 | g.99600584G>T | CA357507910 | MTTP | c.1087G>T (p.Val363Phe) c.838G>T (p.Val280Phe) c.1168G>T (p.Val390Phe) | |
4 | g.99600585T>A | CA357507915 | MTTP | c.1088T>A (p.Val363Asp) c.839T>A (p.Val280Asp) c.1169T>A (p.Val390Asp) | |
4 | g.99600585T>C | CA357507917 | MTTP | c.1088T>C (p.Val363Ala) c.839T>C (p.Val280Ala) c.1169T>C (p.Val390Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600585T>G | CA357507927 | MTTP | c.1088T>G (p.Val363Gly) c.839T>G (p.Val280Gly) c.1169T>G (p.Val390Gly) | |
4 | g.99600585T= | CA1480079154 | MTTP | c.1088T= (p.Val363=) c.839T= (p.Val280=) c.1169T= (p.Val390=) | |
4 | g.99600586C>A | CA440329974 | MTTP | c.1089C>A (p.Val363=) c.840C>A (p.Val280=) c.1170C>A (p.Val390=) | |
4 | g.99600586C>G | CA440329975 | MTTP | c.1089C>G (p.Val363=) c.840C>G (p.Val280=) c.1170C>G (p.Val390=) | |
4 | g.99600586C>T | CA440329976 | MTTP | c.1089C>T (p.Val363=) c.840C>T (p.Val280=) c.1170C>T (p.Val390=) | |
4 | g.99600587A>C | CA357507930 | MTTP | c.1090A>C (p.Thr364Pro) c.841A>C (p.Thr281Pro) c.1171A>C (p.Thr391Pro) | |
4 | g.99600587A>G | CA357507931 | MTTP | c.1090A>G (p.Thr364Ala) c.841A>G (p.Thr281Ala) c.1171A>G (p.Thr391Ala) | |
4 | g.99600587A>T | CA357507932 | MTTP | c.1090A>T (p.Thr364Ser) c.841A>T (p.Thr281Ser) c.1171A>T (p.Thr391Ser) | |
4 | g.99600588C>A | CA357507934 | MTTP | c.1091C>A (p.Thr364Asn) c.842C>A (p.Thr281Asn) c.1172C>A (p.Thr391Asn) | |
4 | g.99600588C>G | CA357507936 | MTTP | c.1091C>G (p.Thr364Ser) c.842C>G (p.Thr281Ser) c.1172C>G (p.Thr391Ser) | |
4 | g.99600588C>T | CA357507939 | MTTP | c.1091C>T (p.Thr364Ile) c.842C>T (p.Thr281Ile) c.1172C>T (p.Thr391Ile) | |
4 | g.99600589del | CA2695203656 | MTTP | c.1092del (p.Ser365LeufsTer8) c.843del (p.Ser282LeufsTer8) c.1173del (p.Ser392LeufsTer8) | |
4 | g.99600589C>A | CA440329977 | MTTP | c.1092C>A (p.Thr364=) c.843C>A (p.Thr281=) c.1173C>A (p.Thr391=) | |
4 | g.99600589C>G | CA440329978 | MTTP | c.1092C>G (p.Thr364=) c.843C>G (p.Thr281=) c.1173C>G (p.Thr391=) | |
4 | g.99600589C>T | CA440329979 | MTTP | c.1092C>T (p.Thr364=) c.843C>T (p.Thr281=) c.1173C>T (p.Thr391=) | |
4 | g.99600590T>A | CA357507942 | MTTP | c.1093T>A (p.Ser365Thr) c.844T>A (p.Ser282Thr) c.1174T>A (p.Ser392Thr) | |
4 | g.99600590T>C | CA357507944 | MTTP | c.1093T>C (p.Ser365Pro) c.844T>C (p.Ser282Pro) c.1174T>C (p.Ser392Pro) | |
4 | g.99600590T>G | CA357507946 | MTTP | c.1093T>G (p.Ser365Ala) c.844T>G (p.Ser282Ala) c.1174T>G (p.Ser392Ala) | |
4 | g.99600591C>A | CA357507950 | MTTP | c.1094C>A (p.Ser365Tyr) c.845C>A (p.Ser282Tyr) c.1175C>A (p.Ser392Tyr) | |
4 | g.99600591C>G | CA357507952 | MTTP | c.1094C>G (p.Ser365Cys) c.845C>G (p.Ser282Cys) c.1175C>G (p.Ser392Cys) | |
4 | g.99600591C>T | CA357507948 | MTTP | c.1094C>T (p.Ser365Phe) c.845C>T (p.Ser282Phe) c.1175C>T (p.Ser392Phe) | |
4 | g.99600592T>A | CA440329982 | MTTP | c.1095T>A (p.Ser365=) c.846T>A (p.Ser282=) c.1176T>A (p.Ser392=) | |
4 | g.99600592T>C | CA440329981 | MTTP | c.1095T>C (p.Ser365=) c.846T>C (p.Ser282=) c.1176T>C (p.Ser392=) | |
4 | g.99600592T>G | CA440329980 | MTTP | c.1095T>G (p.Ser365=) c.846T>G (p.Ser282=) c.1176T>G (p.Ser392=) | |
4 | g.99600593G>A | CA357507958 | MTTP | c.1096G>A (p.Ala366Thr) c.847G>A (p.Ala283Thr) c.1177G>A (p.Ala393Thr) | |
4 | g.99600593G>C | CA357507954 | MTTP | c.1096G>C (p.Ala366Pro) c.847G>C (p.Ala283Pro) c.1177G>C (p.Ala393Pro) | |
4 | g.99600593G>T | CA357507956 | MTTP | c.1096G>T (p.Ala366Ser) c.847G>T (p.Ala283Ser) c.1177G>T (p.Ala393Ser) | |
4 | g.99600594C>A | CA357507960 | MTTP | c.1097C>A (p.Ala366Asp) c.848C>A (p.Ala283Asp) c.1178C>A (p.Ala393Asp) | |
4 | g.99600594C>G | CA357507962 | MTTP | c.1097C>G (p.Ala366Gly) c.848C>G (p.Ala283Gly) c.1178C>G (p.Ala393Gly) | |
4 | g.99600594C>T | CA357507963 | MTTP | c.1097C>T (p.Ala366Val) c.848C>T (p.Ala283Val) c.1178C>T (p.Ala393Val) | |
4 | g.99600595T>A | CA440329983 | MTTP | c.1098T>A (p.Ala366=) c.849T>A (p.Ala283=) c.1179T>A (p.Ala393=) | |
4 | g.99600595T>C | CA440329984 | MTTP | c.1098T>C (p.Ala366=) c.849T>C (p.Ala283=) c.1179T>C (p.Ala393=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600595T>G | CA440329985 | MTTP | c.1098T>G (p.Ala366=) c.849T>G (p.Ala283=) c.1179T>G (p.Ala393=) | |
4 | g.99600595T= | CA1480079155 | MTTP | c.1098T= (p.Ala366=) c.849T= (p.Ala283=) c.1179T= (p.Ala393=) | |
4 | g.99600596C>A | CA357507965 | MTTP | c.1099C>A (p.Gln367Lys) c.850C>A (p.Gln284Lys) c.1180C>A (p.Gln394Lys) | |
4 | g.99600596C= | CA1480079156 | MTTP | c.1099C= (p.Gln367=) c.850C= (p.Gln284=) c.1180C= (p.Gln394=) | |
4 | g.99600596C>G | CA357507967 | MTTP | c.1099C>G (p.Gln367Glu) c.850C>G (p.Gln284Glu) c.1180C>G (p.Gln394Glu) | |
4 | g.99600596C>T | CA357507969 | MTTP | c.1099C>T (p.Gln367Ter) c.850C>T (p.Gln284Ter) c.1180C>T (p.Gln394Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600597A>C | CA357507971 | MTTP | c.1100A>C (p.Gln367Pro) c.851A>C (p.Gln284Pro) c.1181A>C (p.Gln394Pro) | |
4 | g.99600597A>G | CA357507973 | MTTP | c.1100A>G (p.Gln367Arg) c.851A>G (p.Gln284Arg) c.1181A>G (p.Gln394Arg) | |
4 | g.99600597A>T | CA357507975 | MTTP | c.1100A>T (p.Gln367Leu) c.851A>T (p.Gln284Leu) c.1181A>T (p.Gln394Leu) | |
4 | g.99600598G>A | CA440329986 | MTTP | c.1101G>A (p.Gln367=) c.852G>A (p.Gln284=) c.1182G>A (p.Gln394=) | |
4 | g.99600598G>C | CA357507978 | MTTP | c.1101G>C (p.Gln367His) c.852G>C (p.Gln284His) c.1182G>C (p.Gln394His) | |
4 | g.99600598G>T | CA357507980 | MTTP | c.1101G>T (p.Gln367His) c.852G>T (p.Gln284His) c.1182G>T (p.Gln394His) | |
4 | g.99600599A>C | CA357507984 | MTTP | c.1102A>C (p.Thr368Pro) c.853A>C (p.Thr285Pro) c.1183A>C (p.Thr395Pro) | |
4 | g.99600599A>G | CA357507982 | MTTP | c.1102A>G (p.Thr368Ala) c.853A>G (p.Thr285Ala) c.1183A>G (p.Thr395Ala) | |
4 | g.99600599A>T | CA357507983 | MTTP | c.1102A>T (p.Thr368Ser) c.853A>T (p.Thr285Ser) c.1183A>T (p.Thr395Ser) | |
4 | g.99600600C>A | CA357507985 | MTTP | c.1103C>A (p.Thr368Asn) c.854C>A (p.Thr285Asn) c.1184C>A (p.Thr395Asn) | |
4 | g.99600600C>G | CA357507986 | MTTP | c.1103C>G (p.Thr368Ser) c.854C>G (p.Thr285Ser) c.1184C>G (p.Thr395Ser) | gnomAD v4 |
4 | g.99600600C>T | CA357507987 | MTTP | c.1103C>T (p.Thr368Ile) c.854C>T (p.Thr285Ile) c.1184C>T (p.Thr395Ile) | |
4 | g.99600601C>A | CA440329987 | MTTP | c.1104C>A (p.Thr368=) c.855C>A (p.Thr285=) c.1185C>A (p.Thr395=) | |
4 | g.99600601C>G | CA440329988 | MTTP | c.1104C>G (p.Thr368=) c.855C>G (p.Thr285=) c.1185C>G (p.Thr395=) | |
4 | g.99600601C>T | CA440329989 | MTTP | c.1104C>T (p.Thr368=) c.855C>T (p.Thr285=) c.1185C>T (p.Thr395=) | ClinVar dbSNP COSMIC |
4 | g.99600602T>A | CA357507989 | MTTP | c.1105T>A (p.Ser369Thr) c.856T>A (p.Ser286Thr) c.1186T>A (p.Ser396Thr) | |
4 | g.99600602T>C | CA357507991 | MTTP | c.1105T>C (p.Ser369Pro) c.856T>C (p.Ser286Pro) c.1186T>C (p.Ser396Pro) | gnomAD v3 gnomAD v4 |
4 | g.99600602T>G | CA357507993 | MTTP | c.1105T>G (p.Ser369Ala) c.856T>G (p.Ser286Ala) c.1186T>G (p.Ser396Ala) | |
4 | g.99600603C>A | CA357507995 | MTTP | c.1106C>A (p.Ser369Ter) c.857C>A (p.Ser286Ter) c.1187C>A (p.Ser396Ter) | ClinVar |
4 | g.99600603C>G | CA357507996 | MTTP | c.1106C>G (p.Ser369Ter) c.857C>G (p.Ser286Ter) c.1187C>G (p.Ser396Ter) | |
4 | g.99600603C>T | CA357507999 | MTTP | c.1106C>T (p.Ser369Leu) c.857C>T (p.Ser286Leu) c.1187C>T (p.Ser396Leu) | |
4 | g.99600604A= | CA1480079157 | MTTP | c.1107A= (p.Ser369=) c.858A= (p.Ser286=) c.1188A= (p.Ser396=) | |
4 | g.99600604A>C | CA440329990 | MTTP | c.1107A>C (p.Ser369=) c.858A>C (p.Ser286=) c.1188A>C (p.Ser396=) | |
4 | g.99600604A>G | CA440329992 | MTTP | c.1107A>G (p.Ser369=) c.858A>G (p.Ser286=) c.1188A>G (p.Ser396=) | |
4 | g.99600604A>T | CA440329991 | MTTP | c.1107A>T (p.Ser369=) c.858A>T (p.Ser286=) c.1188A>T (p.Ser396=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600604dup | CA2578152333 | MTTP | c.1107dup (p.Asp370ArgfsTer15) c.858dup (p.Asp287ArgfsTer15) c.1188dup (p.Asp397ArgfsTer15) | |
4 | g.99600605G>A | CA357508001 | MTTP | c.1108G>A (p.Asp370Asn) c.859G>A (p.Asp287Asn) c.1189G>A (p.Asp397Asn) | gnomAD v4 |
4 | g.99600605G>C | CA357508002 | MTTP | c.1108G>C (p.Asp370His) c.859G>C (p.Asp287His) c.1189G>C (p.Asp397His) | |
4 | g.99600605G>T | CA357508004 | MTTP | c.1108G>T (p.Asp370Tyr) c.859G>T (p.Asp287Tyr) c.1189G>T (p.Asp397Tyr) | |
4 | g.99600606A= | CA1480079158 | MTTP | c.1109A= (p.Asp370=) c.860A= (p.Asp287=) c.1190A= (p.Asp397=) | |
4 | g.99600606A>C | CA357508008 | MTTP | c.1109A>C (p.Asp370Ala) c.860A>C (p.Asp287Ala) c.1190A>C (p.Asp397Ala) | |
4 | g.99600606A>G | CA357508005 | MTTP | c.1109A>G (p.Asp370Gly) c.860A>G (p.Asp287Gly) c.1190A>G (p.Asp397Gly) | |
4 | g.99600606A>T | CA3022034 | MTTP | c.1109A>T (p.Asp370Val) c.860A>T (p.Asp287Val) c.1190A>T (p.Asp397Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600607C>A | CA357508010 | MTTP | c.1110C>A (p.Asp370Glu) c.861C>A (p.Asp287Glu) c.1191C>A (p.Asp397Glu) | |
4 | g.99600607C>G | CA357508011 | MTTP | c.1110C>G (p.Asp370Glu) c.861C>G (p.Asp287Glu) c.1191C>G (p.Asp397Glu) | |
4 | g.99600607C>T | CA440329993 | MTTP | c.1110C>T (p.Asp370=) c.861C>T (p.Asp287=) c.1191C>T (p.Asp397=) | gnomAD v4 |
4 | g.99600608T>A | CA357508013 | MTTP | c.1111T>A (p.Ser371Thr) c.862T>A (p.Ser288Thr) c.1192T>A (p.Ser398Thr) | |
4 | g.99600608T>C | CA357508014 | MTTP | c.1111T>C (p.Ser371Pro) c.862T>C (p.Ser288Pro) c.1192T>C (p.Ser398Pro) | gnomAD v4 |
4 | g.99600608T>G | CA357508017 | MTTP | c.1111T>G (p.Ser371Ala) c.862T>G (p.Ser288Ala) c.1192T>G (p.Ser398Ala) | |
4 | g.99600608_99600618delinsTCATTAGAAGC | CA1480079159 | MTTP | c.1111_1121delinsTCATTAGAAGC (p.Ser371=) c.862_872delinsTCATTAGAAGC (p.Ser288=) c.1192_1202delinsTCATTAGAAGC (p.Ser398=) | |
4 | g.99600609C>A | CA357508018 | MTTP | c.1112C>A (p.Ser371Ter) c.863C>A (p.Ser288Ter) c.1193C>A (p.Ser398Ter) | |
4 | g.99600609C>G | CA357508020 | MTTP | c.1112C>G (p.Ser371Ter) c.863C>G (p.Ser288Ter) c.1193C>G (p.Ser398Ter) | |
4 | g.99600609C>T | CA357508022 | MTTP | c.1112C>T (p.Ser371Leu) c.863C>T (p.Ser288Leu) c.1193C>T (p.Ser398Leu) | gnomAD v4 |
4 | g.99600613_99600622del | CA916082653 | MTTP | c.1116_1125del (p.Leu372PhefsTer?) c.867_876del (p.Leu289PhefsTer?) c.1197_1206del (p.Leu399PhefsTer?) | ClinVar dbSNP |
4 | g.99600610A>C | CA440329994 | MTTP | c.1113A>C (p.Ser371=) c.864A>C (p.Ser288=) c.1194A>C (p.Ser398=) | |
4 | g.99600610A>G | CA440329995 | MTTP | c.1113A>G (p.Ser371=) c.864A>G (p.Ser288=) c.1194A>G (p.Ser398=) | |
4 | g.99600610A>T | CA440329996 | MTTP | c.1113A>T (p.Ser371=) c.864A>T (p.Ser288=) c.1194A>T (p.Ser398=) | |
4 | g.99600611T>A | CA357508024 | MTTP | c.1114T>A (p.Leu372Ile) c.865T>A (p.Leu289Ile) c.1195T>A (p.Leu399Ile) | |
4 | g.99600611T>C | CA440329997 | MTTP | c.1114T>C (p.Leu372=) c.865T>C (p.Leu289=) c.1195T>C (p.Leu399=) | |
4 | g.99600611T>G | CA357508026 | MTTP | c.1114T>G (p.Leu372Val) c.865T>G (p.Leu289Val) c.1195T>G (p.Leu399Val) | |
4 | g.99600612T>A | CA357508028 | MTTP | c.1115T>A (p.Leu372Ter) c.866T>A (p.Leu289Ter) c.1196T>A (p.Leu399Ter) | |
4 | g.99600612T>C | CA357508029 | MTTP | c.1115T>C (p.Leu372Ser) c.866T>C (p.Leu289Ser) c.1196T>C (p.Leu399Ser) | |
4 | g.99600612T>G | CA357508035 | MTTP | c.1115T>G (p.Leu372Ter) c.866T>G (p.Leu289Ter) c.1196T>G (p.Leu399Ter) | |
4 | g.99600613A>C | CA357508041 | MTTP | c.1116A>C (p.Leu372Phe) c.867A>C (p.Leu289Phe) c.1197A>C (p.Leu399Phe) | |
4 | g.99600613A>G | CA440329998 | MTTP | c.1116A>G (p.Leu372=) c.867A>G (p.Leu289=) c.1197A>G (p.Leu399=) | |
4 | g.99600613A>T | CA357508039 | MTTP | c.1116A>T (p.Leu372Phe) c.867A>T (p.Leu289Phe) c.1197A>T (p.Leu399Phe) | |
4 | g.99600614G>A | CA357508043 | MTTP | c.1117G>A (p.Glu373Lys) c.868G>A (p.Glu290Lys) c.1198G>A (p.Glu400Lys) | |
4 | g.99600614G>C | CA357508044 | MTTP | c.1117G>C (p.Glu373Gln) c.868G>C (p.Glu290Gln) c.1198G>C (p.Glu400Gln) | dbSNP |
4 | g.99600614G= | CA1480079160 | MTTP | c.1117G= (p.Glu373=) c.868G= (p.Glu290=) c.1198G= (p.Glu400=) | |
4 | g.99600614G>T | CA357508046 | MTTP | c.1117G>T (p.Glu373Ter) c.868G>T (p.Glu290Ter) c.1198G>T (p.Glu400Ter) | ClinVar dbSNP |
4 | g.99600615A>C | CA357508049 | MTTP | c.1118A>C (p.Glu373Ala) c.869A>C (p.Glu290Ala) c.1199A>C (p.Glu400Ala) | |
4 | g.99600615A>G | CA357508051 | MTTP | c.1118A>G (p.Glu373Gly) c.869A>G (p.Glu290Gly) c.1199A>G (p.Glu400Gly) | |
4 | g.99600615A>T | CA357508053 | MTTP | c.1118A>T (p.Glu373Val) c.869A>T (p.Glu290Val) c.1199A>T (p.Glu400Val) | |
4 | g.99600616A>C | CA357508054 | MTTP | c.1119A>C (p.Glu373Asp) c.870A>C (p.Glu290Asp) c.1200A>C (p.Glu400Asp) | |
4 | g.99600616A>G | CA440329999 | MTTP | c.1119A>G (p.Glu373=) c.870A>G (p.Glu290=) c.1200A>G (p.Glu400=) | ClinVar |
4 | g.99600616A>T | CA357508055 | MTTP | c.1119A>T (p.Glu373Asp) c.870A>T (p.Glu290Asp) c.1200A>T (p.Glu400Asp) | |
4 | g.99600617G>A | CA3022035 | MTTP | c.1120G>A (p.Ala374Thr) c.871G>A (p.Ala291Thr) c.1201G>A (p.Ala401Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600617G>C | CA357508057 | MTTP | c.1120G>C (p.Ala374Pro) c.871G>C (p.Ala291Pro) c.1201G>C (p.Ala401Pro) | |
4 | g.99600617G= | CA1480079161 | MTTP | c.1120G= (p.Ala374=) c.871G= (p.Ala291=) c.1201G= (p.Ala401=) | |
4 | g.99600617G>T | CA357508059 | MTTP | c.1120G>T (p.Ala374Ser) c.871G>T (p.Ala291Ser) c.1201G>T (p.Ala401Ser) | COSMIC |
4 | g.99600618C>A | CA357508062 | MTTP | c.1121C>A (p.Ala374Asp) c.872C>A (p.Ala291Asp) c.1202C>A (p.Ala401Asp) | |
4 | g.99600618C>G | CA357508063 | MTTP | c.1121C>G (p.Ala374Gly) c.872C>G (p.Ala291Gly) c.1202C>G (p.Ala401Gly) | |
4 | g.99600618C>T | CA357508065 | MTTP | c.1121C>T (p.Ala374Val) c.872C>T (p.Ala291Val) c.1202C>T (p.Ala401Val) | |
4 | g.99600619C>A | CA440330000 | MTTP | c.1122C>A (p.Ala374=) c.873C>A (p.Ala291=) c.1203C>A (p.Ala401=) | |
4 | g.99600619C= | CA1480079162 | MTTP | c.1122C= (p.Ala374=) c.873C= (p.Ala291=) c.1203C= (p.Ala401=) | |
4 | g.99600619C>G | CA440330001 | MTTP | c.1122C>G (p.Ala374=) c.873C>G (p.Ala291=) c.1203C>G (p.Ala401=) | |
4 | g.99600619C>T | CA440330002 | MTTP | c.1122C>T (p.Ala374=) c.873C>T (p.Ala291=) c.1203C>T (p.Ala401=) | dbSNP |
4 | g.99600620A= | CA1480079163 | MTTP | c.1123A= (p.Ile375=) c.874A= (p.Ile292=) c.1204A= (p.Ile402=) | |
4 | g.99600620A>C | CA357508069 | MTTP | c.1123A>C (p.Ile375Leu) c.874A>C (p.Ile292Leu) c.1204A>C (p.Ile402Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600620A>G | CA102631373 | MTTP | c.1123A>G (p.Ile375Val) c.874A>G (p.Ile292Val) c.1204A>G (p.Ile402Val) | dbSNP |
4 | g.99600620A>T | CA357508067 | MTTP | c.1123A>T (p.Ile375Phe) c.874A>T (p.Ile292Phe) c.1204A>T (p.Ile402Phe) | |
4 | g.99600621T>A | CA357508072 | MTTP | c.1124T>A (p.Ile375Asn) c.875T>A (p.Ile292Asn) c.1205T>A (p.Ile402Asn) | |
4 | g.99600621T>C | CA357508073 | MTTP | c.1124T>C (p.Ile375Thr) c.875T>C (p.Ile292Thr) c.1205T>C (p.Ile402Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600621T>G | CA357508075 | MTTP | c.1124T>G (p.Ile375Ser) c.875T>G (p.Ile292Ser) c.1205T>G (p.Ile402Ser) | |
4 | g.99600621T= | CA1480079164 | MTTP | c.1124T= (p.Ile375=) c.875T= (p.Ile292=) c.1205T= (p.Ile402=) | |
4 | g.99600622T>A | CA440330003 | MTTP | c.1125T>A (p.Ile375=) c.876T>A (p.Ile292=) c.1206T>A (p.Ile402=) | |
4 | g.99600622T>C | CA440330004 | MTTP | c.1125T>C (p.Ile375=) c.876T>C (p.Ile292=) c.1206T>C (p.Ile402=) | |
4 | g.99600622T>G | CA357508078 | MTTP | c.1125T>G (p.Ile375Met) c.876T>G (p.Ile292Met) c.1206T>G (p.Ile402Met) | |
4 | g.99600623T>A | CA357508079 | MTTP | c.1126T>A (p.Leu376Met) c.877T>A (p.Leu293Met) c.1207T>A (p.Leu403Met) | |
4 | g.99600623T>C | CA440330005 | MTTP | c.1126T>C (p.Leu376=) c.877T>C (p.Leu293=) c.1207T>C (p.Leu403=) | |
4 | g.99600623T>G | CA357508081 | MTTP | c.1126T>G (p.Leu376Val) c.877T>G (p.Leu293Val) c.1207T>G (p.Leu403Val) | |
4 | g.99600624T>A | CA357508089 | MTTP | c.1127T>A (p.Leu376Ter) c.878T>A (p.Leu293Ter) c.1208T>A (p.Leu403Ter) | |
4 | g.99600624T>C | CA357508083 | MTTP | c.1127T>C (p.Leu376Ser) c.878T>C (p.Leu293Ser) c.1208T>C (p.Leu403Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.99600624T>G | CA357508086 | MTTP | c.1127T>G (p.Leu376Trp) c.878T>G (p.Leu293Trp) c.1208T>G (p.Leu403Trp) | COSMIC |
4 | g.99600624T= | CA1480079165 | MTTP | c.1127T= (p.Leu376=) c.878T= (p.Leu293=) c.1208T= (p.Leu403=) | |
4 | g.99600625G>A | CA440330006 | MTTP | c.1128G>A (p.Leu376=) c.879G>A (p.Leu293=) c.1209G>A (p.Leu403=) | |
4 | g.99600625G>C | CA357508092 | MTTP | c.1128G>C (p.Leu376Phe) c.879G>C (p.Leu293Phe) c.1209G>C (p.Leu403Phe) | |
4 | g.99600625G>T | CA357508093 | MTTP | c.1128G>T (p.Leu376Phe) c.879G>T (p.Leu293Phe) c.1209G>T (p.Leu403Phe) | |
4 | g.99600626G>A | CA357508096 | MTTP | c.1129G>A (p.Asp377Asn) c.880G>A (p.Asp294Asn) c.1210G>A (p.Asp404Asn) | gnomAD v4 |
4 | g.99600626G>C | CA357508098 | MTTP | c.1129G>C (p.Asp377His) c.880G>C (p.Asp294His) c.1210G>C (p.Asp404His) | gnomAD v4 |
4 | g.99600626G>T | CA357508100 | MTTP | c.1129G>T (p.Asp377Tyr) c.880G>T (p.Asp294Tyr) c.1210G>T (p.Asp404Tyr) | |
4 | g.99600627A>C | CA357508105 | MTTP | c.1130A>C (p.Asp377Ala) c.881A>C (p.Asp294Ala) c.1211A>C (p.Asp404Ala) | |
4 | g.99600627A>G | CA357508102 | MTTP | c.1130A>G (p.Asp377Gly) c.881A>G (p.Asp294Gly) c.1211A>G (p.Asp404Gly) | |
4 | g.99600627A>T | CA357508103 | MTTP | c.1130A>T (p.Asp377Val) c.881A>T (p.Asp294Val) c.1211A>T (p.Asp404Val) | |
4 | g.99600628C>A | CA357508106 | MTTP | c.1131C>A (p.Asp377Glu) c.882C>A (p.Asp294Glu) c.1212C>A (p.Asp404Glu) | |
4 | g.99600628C>G | CA357508107 | MTTP | c.1131C>G (p.Asp377Glu) c.882C>G (p.Asp294Glu) c.1212C>G (p.Asp404Glu) | |
4 | g.99600628C>T | CA440330007 | MTTP | c.1131C>T (p.Asp377=) c.882C>T (p.Asp294=) c.1212C>T (p.Asp404=) | |
4 | g.99600629T>A | CA357508108 | MTTP | c.1132T>A (p.Phe378Ile) c.883T>A (p.Phe295Ile) c.1213T>A (p.Phe405Ile) | |
4 | g.99600629T>C | CA357508109 | MTTP | c.1132T>C (p.Phe378Leu) c.883T>C (p.Phe295Leu) c.1213T>C (p.Phe405Leu) | |
4 | g.99600629T>G | CA357508111 | MTTP | c.1132T>G (p.Phe378Val) c.883T>G (p.Phe295Val) c.1213T>G (p.Phe405Val) | |
4 | g.99600630T>A | CA357508113 | MTTP | c.1133T>A (p.Phe378Tyr) c.884T>A (p.Phe295Tyr) c.1214T>A (p.Phe405Tyr) | |
4 | g.99600630T>C | CA357508120 | MTTP | c.1133T>C (p.Phe378Ser) c.884T>C (p.Phe295Ser) c.1214T>C (p.Phe405Ser) | |
4 | g.99600630T>G | CA357508123 | MTTP | c.1133T>G (p.Phe378Cys) c.884T>G (p.Phe295Cys) c.1214T>G (p.Phe405Cys) | |
4 | g.99600631T>A | CA357508125 | MTTP | c.1134T>A (p.Phe378Leu) c.885T>A (p.Phe295Leu) c.1215T>A (p.Phe405Leu) | |
4 | g.99600631T>C | CA102631392 | MTTP | c.1134T>C (p.Phe378=) c.885T>C (p.Phe295=) c.1215T>C (p.Phe405=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600631T>G | CA357508127 | MTTP | c.1134T>G (p.Phe378Leu) c.885T>G (p.Phe295Leu) c.1215T>G (p.Phe405Leu) | |
4 | g.99600631T= | CA1480079166 | MTTP | c.1134T= (p.Phe378=) c.885T= (p.Phe295=) c.1215T= (p.Phe405=) | |
4 | g.99600632T>A | CA3022037 | MTTP | c.1135T>A (p.Leu379Met) c.886T>A (p.Leu296Met) c.1216T>A (p.Leu406Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600632T>C | CA3022036 | MTTP | c.1135T>C (p.Leu379=) c.886T>C (p.Leu296=) c.1216T>C (p.Leu406=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600632T>G | CA357508132 | MTTP | c.1135T>G (p.Leu379Val) c.886T>G (p.Leu296Val) c.1216T>G (p.Leu406Val) | |
4 | g.99600632T= | CA1480079167 | MTTP | c.1135T= (p.Leu379=) c.886T= (p.Leu296=) c.1216T= (p.Leu406=) | |
4 | g.99600633T>A | CA357508137 | MTTP | c.1136T>A (p.Leu379Ter) c.887T>A (p.Leu296Ter) c.1217T>A (p.Leu406Ter) | |
4 | g.99600633T>C | CA102631419 | MTTP | c.1136T>C (p.Leu379Ser) c.887T>C (p.Leu296Ser) c.1217T>C (p.Leu406Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600633T>G | CA357508135 | MTTP | c.1136T>G (p.Leu379Trp) c.887T>G (p.Leu296Trp) c.1217T>G (p.Leu406Trp) | |
4 | g.99600633T= | CA1480079168 | MTTP | c.1136T= (p.Leu379=) c.887T= (p.Leu296=) c.1217T= (p.Leu406=) | |
4 | g.99600634G>A | CA440330008 | MTTP | c.1137G>A (p.Leu379=) c.888G>A (p.Leu296=) c.1218G>A (p.Leu406=) | |
4 | g.99600634G>C | CA357508139 | MTTP | c.1137G>C (p.Leu379Phe) c.888G>C (p.Leu296Phe) c.1218G>C (p.Leu406Phe) | |
4 | g.99600634G>T | CA357508142 | MTTP | c.1137G>T (p.Leu379Phe) c.888G>T (p.Leu296Phe) c.1218G>T (p.Leu406Phe) | |
4 | g.99600635G>A | CA357508143 | MTTP | c.1138G>A (p.Asp380Asn) c.889G>A (p.Asp297Asn) c.1219G>A (p.Asp407Asn) | |
4 | g.99600635G>C | CA357508145 | MTTP | c.1138G>C (p.Asp380His) c.889G>C (p.Asp297His) c.1219G>C (p.Asp407His) | |
4 | g.99600635G>T | CA357508146 | MTTP | c.1138G>T (p.Asp380Tyr) c.889G>T (p.Asp297Tyr) c.1219G>T (p.Asp407Tyr) | gnomAD v4 |
4 | g.99600636A= | CA1480079169 | MTTP | c.1139A= (p.Asp380=) c.890A= (p.Asp297=) c.1220A= (p.Asp407=) | |
4 | g.99600636A>C | CA357508148 | MTTP | c.1139A>C (p.Asp380Ala) c.890A>C (p.Asp297Ala) c.1220A>C (p.Asp407Ala) | |
4 | g.99600636A>G | CA357508150 | MTTP | c.1139A>G (p.Asp380Gly) c.890A>G (p.Asp297Gly) c.1220A>G (p.Asp407Gly) | |
4 | g.99600636A>T | CA102631426 | MTTP | c.1139A>T (p.Asp380Val) c.890A>T (p.Asp297Val) c.1220A>T (p.Asp407Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600637T>A | CA357508154 | MTTP | c.1140T>A (p.Asp380Glu) c.891T>A (p.Asp297Glu) c.1221T>A (p.Asp407Glu) | |
4 | g.99600637T>C | CA440330009 | MTTP | c.1140T>C (p.Asp380=) c.891T>C (p.Asp297=) c.1221T>C (p.Asp407=) | |
4 | g.99600637T>G | CA357508157 | MTTP | c.1140T>G (p.Asp380Glu) c.891T>G (p.Asp297Glu) c.1221T>G (p.Asp407Glu) | |
4 | g.99600638T>A | CA357508160 | MTTP | c.1141T>A (p.Phe381Ile) c.892T>A (p.Phe298Ile) c.1222T>A (p.Phe408Ile) | |
4 | g.99600638T>C | CA357508162 | MTTP | c.1141T>C (p.Phe381Leu) c.892T>C (p.Phe298Leu) c.1222T>C (p.Phe408Leu) | |
4 | g.99600638T>G | CA357508165 | MTTP | c.1141T>G (p.Phe381Val) c.892T>G (p.Phe298Val) c.1222T>G (p.Phe408Val) | |
4 | g.99600639T>A | CA357508174 | MTTP | c.1142T>A (p.Phe381Tyr) c.893T>A (p.Phe298Tyr) c.1223T>A (p.Phe408Tyr) | |
4 | g.99600639T>C | CA357508171 | MTTP | c.1142T>C (p.Phe381Ser) c.893T>C (p.Phe298Ser) c.1223T>C (p.Phe408Ser) | |
4 | g.99600639T>G | CA357508168 | MTTP | c.1142T>G (p.Phe381Cys) c.893T>G (p.Phe298Cys) c.1223T>G (p.Phe408Cys) | |
4 | g.99600640C>A | CA357508177 | MTTP | c.1143C>A (p.Phe381Leu) c.894C>A (p.Phe298Leu) c.1224C>A (p.Phe408Leu) | |
4 | g.99600640C>G | CA357508189 | MTTP | c.1143C>G (p.Phe381Leu) c.894C>G (p.Phe298Leu) c.1224C>G (p.Phe408Leu) | |
4 | g.99600640C>T | CA440330010 | MTTP | c.1143C>T (p.Phe381=) c.894C>T (p.Phe298=) c.1224C>T (p.Phe408=) | |
4 | g.99600641A>C | CA357508193 | MTTP | c.1144A>C (p.Lys382Gln) c.895A>C (p.Lys299Gln) c.1225A>C (p.Lys409Gln) | |
4 | g.99600641A>G | CA357508196 | MTTP | c.1144A>G (p.Lys382Glu) c.895A>G (p.Lys299Glu) c.1225A>G (p.Lys409Glu) | |
4 | g.99600641A>T | CA357508200 | MTTP | c.1144A>T (p.Lys382Ter) c.895A>T (p.Lys299Ter) c.1225A>T (p.Lys409Ter) | |
4 | g.99600644del | CA2695203657 | MTTP | c.1147del (p.Ser383ValfsTer26) c.898del (p.Ser300ValfsTer26) c.1228del (p.Ser410ValfsTer26) | |
4 | g.99600642A>C | CA357508204 | MTTP | c.1145A>C (p.Lys382Thr) c.896A>C (p.Lys299Thr) c.1226A>C (p.Lys409Thr) | |
4 | g.99600642A>G | CA357508207 | MTTP | c.1145A>G (p.Lys382Arg) c.896A>G (p.Lys299Arg) c.1226A>G (p.Lys409Arg) | |
4 | g.99600642A>T | CA357508209 | MTTP | c.1145A>T (p.Lys382Ile) c.896A>T (p.Lys299Ile) c.1226A>T (p.Lys409Ile) | |
4 | g.99600643A>C | CA357508211 | MTTP | c.1146A>C (p.Lys382Asn) c.897A>C (p.Lys299Asn) c.1227A>C (p.Lys409Asn) | |
4 | g.99600643A>G | CA440330011 | MTTP | c.1146A>G (p.Lys382=) c.897A>G (p.Lys299=) c.1227A>G (p.Lys409=) | |
4 | g.99600643A>T | CA357508215 | MTTP | c.1146A>T (p.Lys382Asn) c.897A>T (p.Lys299Asn) c.1227A>T (p.Lys409Asn) | |
4 | g.99600644A= | CA1480079170 | MTTP | c.1147A= (p.Ser383=) c.898A= (p.Ser300=) c.1228A= (p.Ser410=) | |
4 | g.99600644A>C | CA357508218 | MTTP | c.1147A>C (p.Ser383Arg) c.898A>C (p.Ser300Arg) c.1228A>C (p.Ser410Arg) | |
4 | g.99600644A>G | CA357508221 | MTTP | c.1147A>G (p.Ser383Gly) c.898A>G (p.Ser300Gly) c.1228A>G (p.Ser410Gly) | |
4 | g.99600644A>T | CA3022038 | MTTP | c.1147A>T (p.Ser383Cys) c.898A>T (p.Ser300Cys) c.1228A>T (p.Ser410Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600645G>A | CA357508230 | MTTP | c.1148G>A (p.Ser383Asn) c.899G>A (p.Ser300Asn) c.1229G>A (p.Ser410Asn) | |
4 | g.99600645G>C | CA357508233 | MTTP | c.1148G>C (p.Ser383Thr) c.899G>C (p.Ser300Thr) c.1229G>C (p.Ser410Thr) | COSMIC |
4 | g.99600645G>T | CA357508228 | MTTP | c.1148G>T (p.Ser383Ile) c.899G>T (p.Ser300Ile) c.1229G>T (p.Ser410Ile) | |
4 | g.99600646T>A | CA357508236 | MTTP | c.1149T>A (p.Ser383Arg) c.900T>A (p.Ser300Arg) c.1230T>A (p.Ser410Arg) | |
4 | g.99600646T>C | CA3022039 | MTTP | c.1149T>C (p.Ser383=) c.900T>C (p.Ser300=) c.1230T>C (p.Ser410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600646T>G | CA357508239 | MTTP | c.1149T>G (p.Ser383Arg) c.900T>G (p.Ser300Arg) c.1230T>G (p.Ser410Arg) | |
4 | g.99600646T= | CA1480079171 | MTTP | c.1149T= (p.Ser383=) c.900T= (p.Ser300=) c.1230T= (p.Ser410=) | |
4 | g.99600647G>A | CA3022040 | MTTP | c.1150G>A (p.Asp384Asn) c.901G>A (p.Asp301Asn) c.1231G>A (p.Asp411Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600647G>C | CA357508243 | MTTP | c.1150G>C (p.Asp384His) c.901G>C (p.Asp301His) c.1231G>C (p.Asp411His) | |
4 | g.99600647G= | CA1480079172 | MTTP | c.1150G= (p.Asp384=) c.901G= (p.Asp301=) c.1231G= (p.Asp411=) | |
4 | g.99600647G>T | CA357508246 | MTTP | c.1150G>T (p.Asp384Tyr) c.901G>T (p.Asp301Tyr) c.1231G>T (p.Asp411Tyr) | |
4 | g.99600648A= | CA1480079173 | MTTP | c.1151A= (p.Asp384=) c.902A= (p.Asp301=) c.1232A= (p.Asp411=) | |
4 | g.99600648A>C | CA3022041 | MTTP | c.1151A>C (p.Asp384Ala) c.902A>C (p.Asp301Ala) c.1232A>C (p.Asp411Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600648A>G | CA357508249 | MTTP | c.1151A>G (p.Asp384Gly) c.902A>G (p.Asp301Gly) c.1232A>G (p.Asp411Gly) | |
4 | g.99600648A>T | CA357508251 | MTTP | c.1151A>T (p.Asp384Val) c.902A>T (p.Asp301Val) c.1232A>T (p.Asp411Val) | |
4 | g.99600649C>A | CA357508256 | MTTP | c.1152C>A (p.Asp384Glu) c.903C>A (p.Asp301Glu) c.1233C>A (p.Asp411Glu) | |
4 | g.99600649C>G | CA357508258 | MTTP | c.1152C>G (p.Asp384Glu) c.903C>G (p.Asp301Glu) c.1233C>G (p.Asp411Glu) | |
4 | g.99600649C>T | CA440330012 | MTTP | c.1152C>T (p.Asp384=) c.903C>T (p.Asp301=) c.1233C>T (p.Asp411=) | |
4 | g.99600650A>C | CA357508260 | MTTP | c.1153A>C (p.Ser385Arg) c.904A>C (p.Ser302Arg) c.1234A>C (p.Ser412Arg) | gnomAD v4 |
4 | g.99600650A>G | CA357508262 | MTTP | c.1153A>G (p.Ser385Gly) c.904A>G (p.Ser302Gly) c.1234A>G (p.Ser412Gly) | |
4 | g.99600650A>T | CA357508265 | MTTP | c.1153A>T (p.Ser385Cys) c.904A>T (p.Ser302Cys) c.1234A>T (p.Ser412Cys) | |
4 | g.99600651G>A | CA357508278 | MTTP | c.1154G>A (p.Ser385Asn) c.905G>A (p.Ser302Asn) c.1235G>A (p.Ser412Asn) | COSMIC |
4 | g.99600651G>C | CA357508268 | MTTP | c.1154G>C (p.Ser385Thr) c.905G>C (p.Ser302Thr) c.1235G>C (p.Ser412Thr) | |
4 | g.99600651G>T | CA357508274 | MTTP | c.1154G>T (p.Ser385Ile) c.905G>T (p.Ser302Ile) c.1235G>T (p.Ser412Ile) | |
4 | g.99600652C>A | CA357508286 | MTTP | c.1155C>A (p.Ser385Arg) c.906C>A (p.Ser302Arg) c.1236C>A (p.Ser412Arg) | |
4 | g.99600652C>G | CA357508287 | MTTP | c.1155C>G (p.Ser385Arg) c.906C>G (p.Ser302Arg) c.1236C>G (p.Ser412Arg) | |
4 | g.99600652C>T | CA440330013 | MTTP | c.1155C>T (p.Ser385=) c.906C>T (p.Ser302=) c.1236C>T (p.Ser412=) | ClinVar dbSNP |
4 | g.99600653A>C | CA357508293 | MTTP | c.1156A>C (p.Ser386Arg) c.907A>C (p.Ser303Arg) c.1237A>C (p.Ser413Arg) | |
4 | g.99600653A>G | CA357508295 | MTTP | c.1156A>G (p.Ser386Gly) c.907A>G (p.Ser303Gly) c.1237A>G (p.Ser413Gly) | |
4 | g.99600653A>T | CA357508298 | MTTP | c.1156A>T (p.Ser386Cys) c.907A>T (p.Ser303Cys) c.1237A>T (p.Ser413Cys) | |
4 | g.99600654G>A | CA357508301 | MTTP | c.1157G>A (p.Ser386Asn) c.908G>A (p.Ser303Asn) c.1238G>A (p.Ser413Asn) | ClinVar gnomAD v4 |
4 | g.99600654G>C | CA357508304 | MTTP | c.1157G>C (p.Ser386Thr) c.908G>C (p.Ser303Thr) c.1238G>C (p.Ser413Thr) | gnomAD v4 |
4 | g.99600654G>T | CA357508306 | MTTP | c.1157G>T (p.Ser386Ile) c.908G>T (p.Ser303Ile) c.1238G>T (p.Ser413Ile) | COSMIC |
4 | g.99600655C>A | CA357508308 | MTTP | c.1158C>A (p.Ser386Arg) c.909C>A (p.Ser303Arg) c.1239C>A (p.Ser413Arg) | |
4 | g.99600655C>G | CA357508310 | MTTP | c.1158C>G (p.Ser386Arg) c.909C>G (p.Ser303Arg) c.1239C>G (p.Ser413Arg) | |
4 | g.99600655C>T | CA440330014 | MTTP | c.1158C>T (p.Ser386=) c.909C>T (p.Ser303=) c.1239C>T (p.Ser413=) | |
4 | g.99600656A= | CA1480079174 | MTTP | c.1159A= (p.Ile387=) c.910A= (p.Ile304=) c.1240A= (p.Ile414=) | |
4 | g.99600656A>C | CA357508313 | MTTP | c.1159A>C (p.Ile387Leu) c.910A>C (p.Ile304Leu) c.1240A>C (p.Ile414Leu) | |
4 | g.99600656A>G | CA357508316 | MTTP | c.1159A>G (p.Ile387Val) c.910A>G (p.Ile304Val) c.1240A>G (p.Ile414Val) | ClinVar dbSNP gnomAD v4 |
4 | g.99600656A>T | CA357508318 | MTTP | c.1159A>T (p.Ile387Phe) c.910A>T (p.Ile304Phe) c.1240A>T (p.Ile414Phe) | gnomAD v4 |
4 | g.99600657T>A | CA357508321 | MTTP | c.1160T>A (p.Ile387Asn) c.911T>A (p.Ile304Asn) c.1241T>A (p.Ile414Asn) | |
4 | g.99600657T>C | CA357508326 | MTTP | c.1160T>C (p.Ile387Thr) c.911T>C (p.Ile304Thr) c.1241T>C (p.Ile414Thr) | dbSNP |
4 | g.99600657T>G | CA357508324 | MTTP | c.1160T>G (p.Ile387Ser) c.911T>G (p.Ile304Ser) c.1241T>G (p.Ile414Ser) | |
4 | g.99600657T= | CA1480079175 | MTTP | c.1160T= (p.Ile387=) c.911T= (p.Ile304=) c.1241T= (p.Ile414=) | |
4 | g.99600657_99600658insATCT | CA2695203658 | MTTP | c.1160_1161insATCT (p.Ile388SerfsTer19) c.911_912insATCT (p.Ile305SerfsTer19) c.1241_1242insATCT (p.Ile415SerfsTer19) | |
4 | g.99600658T>A | CA440330015 | MTTP | c.1161T>A (p.Ile387=) c.912T>A (p.Ile304=) c.1242T>A (p.Ile414=) | |
4 | g.99600658T>C | CA440330016 | MTTP | c.1161T>C (p.Ile387=) c.912T>C (p.Ile304=) c.1242T>C (p.Ile414=) | |
4 | g.99600658T>G | CA357508329 | MTTP | c.1161T>G (p.Ile387Met) c.912T>G (p.Ile304Met) c.1242T>G (p.Ile414Met) | |
4 | g.99600659A>C | CA357508333 | MTTP | c.1162A>C (p.Ile388Leu) c.913A>C (p.Ile305Leu) c.1243A>C (p.Ile415Leu) | |
4 | g.99600659A>G | CA357508337 | MTTP | c.1162A>G (p.Ile388Val) c.913A>G (p.Ile305Val) c.1243A>G (p.Ile415Val) | |
4 | g.99600659A>T | CA357508339 | MTTP | c.1162A>T (p.Ile388Phe) c.913A>T (p.Ile305Phe) c.1243A>T (p.Ile415Phe) | |
4 | g.99600660T>A | CA357508343 | MTTP | c.1163T>A (p.Ile388Asn) c.914T>A (p.Ile305Asn) c.1244T>A (p.Ile415Asn) | |
4 | g.99600660T>C | CA357508345 | MTTP | c.1163T>C (p.Ile388Thr) c.914T>C (p.Ile305Thr) c.1244T>C (p.Ile415Thr) | gnomAD v4 |
4 | g.99600660T>G | CA357508347 | MTTP | c.1163T>G (p.Ile388Ser) c.914T>G (p.Ile305Ser) c.1244T>G (p.Ile415Ser) | |
4 | g.99600661C>A | CA440330018 | MTTP | c.1164C>A (p.Ile388=) c.915C>A (p.Ile305=) c.1245C>A (p.Ile415=) | ClinVar |
4 | g.99600661C>G | CA357508351 | MTTP | c.1164C>G (p.Ile388Met) c.915C>G (p.Ile305Met) c.1245C>G (p.Ile415Met) | |
4 | g.99600661C>T | CA440330017 | MTTP | c.1164C>T (p.Ile388=) c.915C>T (p.Ile305=) c.1245C>T (p.Ile415=) | |
4 | g.99600662C>A | CA357508355 | MTTP | c.1165C>A (p.Leu389Ile) c.916C>A (p.Leu306Ile) c.1246C>A (p.Leu416Ile) | |
4 | g.99600662C= | CA1480079176 | MTTP | c.1165C= (p.Leu389=) c.916C= (p.Leu306=) c.1246C= (p.Leu416=) | |
4 | g.99600662C>G | CA357508357 | MTTP | c.1165C>G (p.Leu389Val) c.916C>G (p.Leu306Val) c.1246C>G (p.Leu416Val) | gnomAD v4 |
4 | g.99600662C>T | CA102631505 | MTTP | c.1165C>T (p.Leu389Phe) c.916C>T (p.Leu306Phe) c.1246C>T (p.Leu416Phe) | dbSNP |
4 | g.99600663T>A | CA357508359 | MTTP | c.1166T>A (p.Leu389His) c.917T>A (p.Leu306His) c.1247T>A (p.Leu416His) | |
4 | g.99600663T>C | CA357508361 | MTTP | c.1166T>C (p.Leu389Pro) c.917T>C (p.Leu306Pro) c.1247T>C (p.Leu416Pro) | |
4 | g.99600663T>G | CA357508364 | MTTP | c.1166T>G (p.Leu389Arg) c.917T>G (p.Leu306Arg) c.1247T>G (p.Leu416Arg) | |
4 | g.99600664C>A | CA440330021 | MTTP | c.1167C>A (p.Leu389=) c.918C>A (p.Leu306=) c.1248C>A (p.Leu416=) | |
4 | g.99600664C= | CA1480079177 | MTTP | c.1167C= (p.Leu389=) c.918C= (p.Leu306=) c.1248C= (p.Leu416=) | |
4 | g.99600664C>G | CA440330020 | MTTP | c.1167C>G (p.Leu389=) c.918C>G (p.Leu306=) c.1248C>G (p.Leu416=) | ClinVar dbSNP |
4 | g.99600664C>T | CA440330019 | MTTP | c.1167C>T (p.Leu389=) c.918C>T (p.Leu306=) c.1248C>T (p.Leu416=) | ClinVar dbSNP |
4 | g.99600665del | CA2580071915 | MTTP | c.1168del (p.Gln390ArgfsTer19) c.919del (p.Gln307ArgfsTer19) c.1249del (p.Gln417ArgfsTer19) | ClinVar |
4 | g.99600665C>A | CA357508367 | MTTP | c.1168C>A (p.Gln390Lys) c.919C>A (p.Gln307Lys) c.1249C>A (p.Gln417Lys) | |
4 | g.99600665C>G | CA357508372 | MTTP | c.1168C>G (p.Gln390Glu) c.919C>G (p.Gln307Glu) c.1249C>G (p.Gln417Glu) | |
4 | g.99600665C>T | CA357508369 | MTTP | c.1168C>T (p.Gln390Ter) c.919C>T (p.Gln307Ter) c.1249C>T (p.Gln417Ter) | |
4 | g.99600666A>C | CA357508375 | MTTP | c.1169A>C (p.Gln390Pro) c.920A>C (p.Gln307Pro) c.1250A>C (p.Gln417Pro) | |
4 | g.99600666A>G | CA357508377 | MTTP | c.1169A>G (p.Gln390Arg) c.920A>G (p.Gln307Arg) c.1250A>G (p.Gln417Arg) | |
4 | g.99600666A>T | CA357508379 | MTTP | c.1169A>T (p.Gln390Leu) c.920A>T (p.Gln307Leu) c.1250A>T (p.Gln417Leu) | |
4 | g.99600667G>A | CA440330022 | MTTP | c.1170G>A (p.Gln390=) c.921G>A (p.Gln307=) c.1251G>A (p.Gln417=) | ClinVar dbSNP gnomAD v4 |
4 | g.99600667G>C | CA357508382 | MTTP | c.1170G>C (p.Gln390His) c.921G>C (p.Gln307His) c.1251G>C (p.Gln417His) | |
4 | g.99600667G= | CA1480079178 | MTTP | c.1170G= (p.Gln390=) c.921G= (p.Gln307=) c.1251G= (p.Gln417=) | |
4 | g.99600667G>T | CA357508385 | MTTP | c.1170G>T (p.Gln390His) c.921G>T (p.Gln307His) c.1251G>T (p.Gln417His) | |
4 | g.99600668G>A | CA3022042 | MTTP | c.1171G>A (p.Glu391Lys) c.922G>A (p.Glu308Lys) c.1252G>A (p.Glu418Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600668G>C | CA357508388 | MTTP | c.1171G>C (p.Glu391Gln) c.922G>C (p.Glu308Gln) c.1252G>C (p.Glu418Gln) | |
4 | g.99600668G= | CA1480079179 | MTTP | c.1171G= (p.Glu391=) c.922G= (p.Glu308=) c.1252G= (p.Glu418=) | |
4 | g.99600668G>T | CA357508390 | MTTP | c.1171G>T (p.Glu391Ter) c.922G>T (p.Glu308Ter) c.1252G>T (p.Glu418Ter) |