Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.99600669A>C | CA357508393 | MTTP | c.1172A>C (p.Glu391Ala) c.923A>C (p.Glu308Ala) c.1253A>C (p.Glu418Ala) | |
4 | g.99600669A>G | CA357508395 | MTTP | c.1172A>G (p.Glu391Gly) c.923A>G (p.Glu308Gly) c.1253A>G (p.Glu418Gly) | |
4 | g.99600669A>T | CA357508397 | MTTP | c.1172A>T (p.Glu391Val) c.923A>T (p.Glu308Val) c.1253A>T (p.Glu418Val) | |
4 | g.99600670G>A | CA3022043 | MTTP | c.1173G>A (p.Glu391=) c.924G>A (p.Glu308=) c.1254G>A (p.Glu418=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600670G>C | CA357508403 | MTTP | c.1173G>C (p.Glu391Asp) c.924G>C (p.Glu308Asp) c.1254G>C (p.Glu418Asp) | |
4 | g.99600670G= | CA1480079180 | MTTP | c.1173G= (p.Glu391=) c.924G= (p.Glu308=) c.1254G= (p.Glu418=) | |
4 | g.99600670G>T | CA357508400 | MTTP | c.1173G>T (p.Glu391Asp) c.924G>T (p.Glu308Asp) c.1254G>T (p.Glu418Asp) | |
4 | g.99600671A= | CA1480079181 | MTTP | c.1174A= (p.Arg392=) c.925A= (p.Arg309=) c.1255A= (p.Arg419=) | |
4 | g.99600671A>C | CA440330023 | MTTP | c.1174A>C (p.Arg392=) c.925A>C (p.Arg309=) c.1255A>C (p.Arg419=) | |
4 | g.99600671A>G | CA357508406 | MTTP | c.1174A>G (p.Arg392Gly) c.925A>G (p.Arg309Gly) c.1255A>G (p.Arg419Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600671A>T | CA357508409 | MTTP | c.1174A>T (p.Arg392Trp) c.925A>T (p.Arg309Trp) c.1255A>T (p.Arg419Trp) | |
4 | g.99600672G>A | CA357508416 | MTTP | c.1175G>A (p.Arg392Lys) c.926G>A (p.Arg309Lys) c.1256G>A (p.Arg419Lys) | |
4 | g.99600672G>C | CA357508421 | MTTP | c.1175G>C (p.Arg392Thr) c.926G>C (p.Arg309Thr) c.1256G>C (p.Arg419Thr) | |
4 | g.99600672G>T | CA357508419 | MTTP | c.1175G>T (p.Arg392Met) c.926G>T (p.Arg309Met) c.1256G>T (p.Arg419Met) | |
4 | g.99600673G>A | CA440330024 | MTTP | c.1176G>A (p.Arg392=) c.927G>A (p.Arg309=) c.1257G>A (p.Arg419=) | ClinVar |
4 | g.99600673G>C | CA357508424 | MTTP | c.1176G>C (p.Arg392Ser) c.927G>C (p.Arg309Ser) c.1257G>C (p.Arg419Ser) | |
4 | g.99600673G>T | CA357508426 | MTTP | c.1176G>T (p.Arg392Ser) c.927G>T (p.Arg309Ser) c.1257G>T (p.Arg419Ser) | |
4 | g.99600674T>A | CA357508435 | MTTP | c.1177T>A (p.Phe393Ile) c.928T>A (p.Phe310Ile) c.1258T>A (p.Phe420Ile) | |
4 | g.99600674T>C | CA357508438 | MTTP | c.1177T>C (p.Phe393Leu) c.928T>C (p.Phe310Leu) c.1258T>C (p.Phe420Leu) | |
4 | g.99600674T>G | CA357508441 | MTTP | c.1177T>G (p.Phe393Val) c.928T>G (p.Phe310Val) c.1258T>G (p.Phe420Val) | |
4 | g.99600674_99600675insCTATAAAAAAAGGCATAATCATGGATATCAATG | CA2525882001 | MTTP | c.1177_1178insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe393delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) c.928_929insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe310delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) c.1258_1259insCTATAAAAAAAGGCATAATCATGGATATCAATG (p.Phe420delinsSerIleLysLysGlyIleIleMetAspIleAsnVal) | |
4 | g.99600675T>A | CA357508445 | MTTP | c.1178T>A (p.Phe393Tyr) c.929T>A (p.Phe310Tyr) c.1259T>A (p.Phe420Tyr) | |
4 | g.99600675T>C | CA357508448 | MTTP | c.1178T>C (p.Phe393Ser) c.929T>C (p.Phe310Ser) c.1259T>C (p.Phe420Ser) | |
4 | g.99600675T>G | CA357508452 | MTTP | c.1178T>G (p.Phe393Cys) c.929T>G (p.Phe310Cys) c.1259T>G (p.Phe420Cys) | |
4 | g.99600676T>A | CA357508456 | MTTP | c.1179T>A (p.Phe393Leu) c.930T>A (p.Phe310Leu) c.1260T>A (p.Phe420Leu) | |
4 | g.99600676T>C | CA440330025 | MTTP | c.1179T>C (p.Phe393=) c.930T>C (p.Phe310=) c.1260T>C (p.Phe420=) | ClinVar |
4 | g.99600676T>G | CA357508460 | MTTP | c.1179T>G (p.Phe393Leu) c.930T>G (p.Phe310Leu) c.1260T>G (p.Phe420Leu) | |
4 | g.99600677C>A | CA357508462 | MTTP | c.1180C>A (p.Leu394Ile) c.931C>A (p.Leu311Ile) c.1261C>A (p.Leu421Ile) | COSMIC |
4 | g.99600677C>G | CA357508464 | MTTP | c.1180C>G (p.Leu394Val) c.931C>G (p.Leu311Val) c.1261C>G (p.Leu421Val) | |
4 | g.99600677C>T | CA357508465 | MTTP | c.1180C>T (p.Leu394Phe) c.931C>T (p.Leu311Phe) c.1261C>T (p.Leu421Phe) | |
4 | g.99600678T>A | CA357508467 | MTTP | c.1181T>A (p.Leu394His) c.932T>A (p.Leu311His) c.1262T>A (p.Leu421His) | |
4 | g.99600678T>C | CA357508469 | MTTP | c.1181T>C (p.Leu394Pro) c.932T>C (p.Leu311Pro) c.1262T>C (p.Leu421Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600678T>G | CA357508471 | MTTP | c.1181T>G (p.Leu394Arg) c.932T>G (p.Leu311Arg) c.1262T>G (p.Leu421Arg) | |
4 | g.99600678T= | CA1480079182 | MTTP | c.1181T= (p.Leu394=) c.932T= (p.Leu311=) c.1262T= (p.Leu421=) | |
4 | g.99600679C>A | CA440330026 | MTTP | c.1182C>A (p.Leu394=) c.933C>A (p.Leu311=) c.1263C>A (p.Leu421=) | |
4 | g.99600679C= | CA1480079183 | MTTP | c.1182C= (p.Leu394=) c.933C= (p.Leu311=) c.1263C= (p.Leu421=) | |
4 | g.99600679C>G | CA440330027 | MTTP | c.1182C>G (p.Leu394=) c.933C>G (p.Leu311=) c.1263C>G (p.Leu421=) | |
4 | g.99600679C>T | CA3022044 | MTTP | c.1182C>T (p.Leu394=) c.933C>T (p.Leu311=) c.1263C>T (p.Leu421=) | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.99600680T>A | CA357508475 | MTTP | c.1183T>A (p.Tyr395Asn) c.934T>A (p.Tyr312Asn) c.1264T>A (p.Tyr422Asn) | |
4 | g.99600680T>C | CA357508476 | MTTP | c.1183T>C (p.Tyr395His) c.934T>C (p.Tyr312His) c.1264T>C (p.Tyr422His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600680T>G | CA357508478 | MTTP | c.1183T>G (p.Tyr395Asp) c.934T>G (p.Tyr312Asp) c.1264T>G (p.Tyr422Asp) | |
4 | g.99600680T= | CA1480079184 | MTTP | c.1183T= (p.Tyr395=) c.934T= (p.Tyr312=) c.1264T= (p.Tyr422=) | |
4 | g.99600681A>C | CA357508481 | MTTP | c.1184A>C (p.Tyr395Ser) c.935A>C (p.Tyr312Ser) c.1265A>C (p.Tyr422Ser) | |
4 | g.99600681A>G | CA357508482 | MTTP | c.1184A>G (p.Tyr395Cys) c.935A>G (p.Tyr312Cys) c.1265A>G (p.Tyr422Cys) | gnomAD v4 |
4 | g.99600681A>T | CA357508485 | MTTP | c.1184A>T (p.Tyr395Phe) c.935A>T (p.Tyr312Phe) c.1265A>T (p.Tyr422Phe) | |
4 | g.99600682T>A | CA357508487 | MTTP | c.1185T>A (p.Tyr395Ter) c.936T>A (p.Tyr312Ter) c.1266T>A (p.Tyr422Ter) | |
4 | g.99600682T>C | CA440330028 | MTTP | c.1185T>C (p.Tyr395=) c.936T>C (p.Tyr312=) c.1266T>C (p.Tyr422=) | ClinVar dbSNP |
4 | g.99600682T>G | CA357508489 | MTTP | c.1185T>G (p.Tyr395Ter) c.936T>G (p.Tyr312Ter) c.1266T>G (p.Tyr422Ter) | |
4 | g.99600683G>A | CA357508491 | MTTP | c.1186G>A (p.Ala396Thr) c.937G>A (p.Ala313Thr) c.1267G>A (p.Ala423Thr) | |
4 | g.99600683G>C | CA357508492 | MTTP | c.1186G>C (p.Ala396Pro) c.937G>C (p.Ala313Pro) c.1267G>C (p.Ala423Pro) | |
4 | g.99600683G>T | CA357508494 | MTTP | c.1186G>T (p.Ala396Ser) c.937G>T (p.Ala313Ser) c.1267G>T (p.Ala423Ser) | |
4 | g.99600684C>A | CA357508496 | MTTP | c.1187C>A (p.Ala396Asp) c.938C>A (p.Ala313Asp) c.1268C>A (p.Ala423Asp) | |
4 | g.99600684C>G | CA357508498 | MTTP | c.1187C>G (p.Ala396Gly) c.938C>G (p.Ala313Gly) c.1268C>G (p.Ala423Gly) | |
4 | g.99600684C>T | CA357508499 | MTTP | c.1187C>T (p.Ala396Val) c.938C>T (p.Ala313Val) c.1268C>T (p.Ala423Val) | |
4 | g.99600685C>A | CA440330029 | MTTP | c.1188C>A (p.Ala396=) c.939C>A (p.Ala313=) c.1269C>A (p.Ala423=) | |
4 | g.99600685C>G | CA440330031 | MTTP | c.1188C>G (p.Ala396=) c.939C>G (p.Ala313=) c.1269C>G (p.Ala423=) | |
4 | g.99600685C>T | CA440330033 | MTTP | c.1188C>T (p.Ala396=) c.939C>T (p.Ala313=) c.1269C>T (p.Ala423=) | |
4 | g.99600686T>A | CA357508503 | MTTP | c.1189T>A (p.Cys397Ser) c.940T>A (p.Cys314Ser) c.1270T>A (p.Cys424Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600686T>C | CA357508507 | MTTP | c.1189T>C (p.Cys397Arg) c.940T>C (p.Cys314Arg) c.1270T>C (p.Cys424Arg) | gnomAD v4 |
4 | g.99600686T>G | CA357508504 | MTTP | c.1189T>G (p.Cys397Gly) c.940T>G (p.Cys314Gly) c.1270T>G (p.Cys424Gly) | |
4 | g.99600686T= | CA1480079185 | MTTP | c.1189T= (p.Cys397=) c.940T= (p.Cys314=) c.1270T= (p.Cys424=) | |
4 | g.99600687G>A | CA357508510 | MTTP | c.1190G>A (p.Cys397Tyr) c.941G>A (p.Cys314Tyr) c.1271G>A (p.Cys424Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600687G>C | CA357508515 | MTTP | c.1190G>C (p.Cys397Ser) c.941G>C (p.Cys314Ser) c.1271G>C (p.Cys424Ser) | gnomAD v4 |
4 | g.99600687G= | CA1480079186 | MTTP | c.1190G= (p.Cys397=) c.941G= (p.Cys314=) c.1271G= (p.Cys424=) | |
4 | g.99600687G>T | CA357508517 | MTTP | c.1190G>T (p.Cys397Phe) c.941G>T (p.Cys314Phe) c.1271G>T (p.Cys424Phe) | |
4 | g.99600688T>A | CA357508519 | MTTP | c.1191T>A (p.Cys397Ter) c.942T>A (p.Cys314Ter) c.1272T>A (p.Cys424Ter) | |
4 | g.99600688T>C | CA440330036 | MTTP | c.1191T>C (p.Cys397=) c.942T>C (p.Cys314=) c.1272T>C (p.Cys424=) | |
4 | g.99600688T>G | CA357508522 | MTTP | c.1191T>G (p.Cys397Trp) c.942T>G (p.Cys314Trp) c.1272T>G (p.Cys424Trp) | |
4 | g.99600689G>A | CA357508527 | MTTP | c.1192G>A (p.Gly398Arg) c.943G>A (p.Gly315Arg) c.1273G>A (p.Gly425Arg) | |
4 | g.99600689G>C | CA357508525 | MTTP | c.1192G>C (p.Gly398Arg) c.943G>C (p.Gly315Arg) c.1273G>C (p.Gly425Arg) | |
4 | g.99600689G>T | CA357508523 | MTTP | c.1192G>T (p.Gly398Ter) c.943G>T (p.Gly315Ter) c.1273G>T (p.Gly425Ter) | |
4 | g.99600690G>A | CA357508529 | MTTP | c.1193G>A (p.Gly398Glu) c.944G>A (p.Gly315Glu) c.1274G>A (p.Gly425Glu) | |
4 | g.99600690G>C | CA357508530 | MTTP | c.1193G>C (p.Gly398Ala) c.944G>C (p.Gly315Ala) c.1274G>C (p.Gly425Ala) | gnomAD v4 COSMIC |
4 | g.99600690G>T | CA357508532 | MTTP | c.1193G>T (p.Gly398Val) c.944G>T (p.Gly315Val) c.1274G>T (p.Gly425Val) |