Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.125317459G>A | CA358117087 | FAT4 | c.1048G>A (p.Asp350Asn) c.-55+1482G>A (n.-55+1482G>A) | |
4 | g.125317459G>C | CA358117088 | FAT4 | c.1048G>C (p.Asp350His) c.-55+1482G>C (n.-55+1482G>C) | |
4 | g.125317459G>T | CA358117089 | FAT4 | c.1048G>T (p.Asp350Tyr) c.-55+1482G>T (n.-55+1482G>T) | |
4 | g.125317460A>C | CA358117092 | FAT4 | c.1049A>C (p.Asp350Ala) c.-55+1483A>C (n.-55+1483A>C) | |
4 | g.125317460A>G | CA358117091 | FAT4 | c.1049A>G (p.Asp350Gly) c.-55+1483A>G (n.-55+1483A>G) | |
4 | g.125317460A>T | CA358117090 | FAT4 | c.1049A>T (p.Asp350Val) c.-55+1483A>T (n.-55+1483A>T) | |
4 | g.125317461C>A | CA358117093 | FAT4 | c.1050C>A (p.Asp350Glu) c.-55+1484C>A (n.-55+1484C>A) | |
4 | g.125317461C= | CA1491599892 | FAT4 | c.1050C= (p.Asp350=) c.-55+1484C= (n.-55+1484C=) | |
4 | g.125317461C>G | CA358117094 | FAT4 | c.1050C>G (p.Asp350Glu) c.-55+1484C>G (n.-55+1484C>G) | |
4 | g.125317461C>T | CA3071906 | FAT4 | c.1050C>T (p.Asp350=) c.-55+1484C>T (n.-55+1484C>T) | dbSNP ExAC gnomAD v2 |
4 | g.125317462C>A | CA358117095 | FAT4 | c.1051C>A (p.Pro351Thr) c.-55+1485C>A (n.-55+1485C>A) | |
4 | g.125317462C= | CA1491599895 | FAT4 | c.1051C= (p.Pro351=) c.-55+1485C= (n.-55+1485C=) | |
4 | g.125317462C>G | CA3071907 | FAT4 | c.1051C>G (p.Pro351Ala) c.-55+1485C>G (n.-55+1485C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317462C>T | CA358117096 | FAT4 | c.1051C>T (p.Pro351Ser) c.-55+1485C>T (n.-55+1485C>T) | |
4 | g.125317463C>A | CA358117097 | FAT4 | c.1052C>A (p.Pro351Gln) c.-55+1486C>A (n.-55+1486C>A) | |
4 | g.125317463C= | CA1491599901 | FAT4 | c.1052C= (p.Pro351=) c.-55+1486C= (n.-55+1486C=) | |
4 | g.125317463C>G | CA358117098 | FAT4 | c.1052C>G (p.Pro351Arg) c.-55+1486C>G (n.-55+1486C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317463C>T | CA358117099 | FAT4 | c.1052C>T (p.Pro351Leu) c.-55+1486C>T (n.-55+1486C>T) | gnomAD v4 |
4 | g.125317464G>A | CA3071908 | FAT4 | c.1053G>A (p.Pro351=) c.-55+1487G>A (n.-55+1487G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317464G>C | CA441366362 | FAT4 | c.1053G>C (p.Pro351=) c.-55+1487G>C (n.-55+1487G>C) | dbSNP |
4 | g.125317464G= | CA1491599908 | FAT4 | c.1053G= (p.Pro351=) c.-55+1487G= (n.-55+1487G=) | |
4 | g.125317464G>T | CA441366363 | FAT4 | c.1053G>T (p.Pro351=) c.-55+1487G>T (n.-55+1487G>T) | |
4 | g.125317465G>A | CA3071909 | FAT4 | c.1054G>A (p.Val352Ile) c.-55+1488G>A (n.-55+1488G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317465G>C | CA358117100 | FAT4 | c.1054G>C (p.Val352Leu) c.-55+1488G>C (n.-55+1488G>C) | gnomAD v4 |
4 | g.125317465G= | CA1491599915 | FAT4 | c.1054G= (p.Val352=) c.-55+1488G= (n.-55+1488G=) | |
4 | g.125317465G>T | CA358117101 | FAT4 | c.1054G>T (p.Val352Leu) c.-55+1488G>T (n.-55+1488G>T) | |
4 | g.125317466T>A | CA358117103 | FAT4 | c.1055T>A (p.Val352Glu) c.-55+1489T>A (n.-55+1489T>A) | |
4 | g.125317466T>C | CA358117104 | FAT4 | c.1055T>C (p.Val352Ala) c.-55+1489T>C (n.-55+1489T>C) | |
4 | g.125317466T>G | CA358117102 | FAT4 | c.1055T>G (p.Val352Gly) c.-55+1489T>G (n.-55+1489T>G) | |
4 | g.125317467A>C | CA441366365 | FAT4 | c.1056A>C (p.Val352=) c.-55+1490A>C (n.-55+1490A>C) | |
4 | g.125317467A>G | CA441366367 | FAT4 | c.1056A>G (p.Val352=) c.-55+1490A>G (n.-55+1490A>G) | gnomAD v4 |
4 | g.125317467A>T | CA441366366 | FAT4 | c.1056A>T (p.Val352=) c.-55+1490A>T (n.-55+1490A>T) | |
4 | g.125317468G>A | CA358117105 | FAT4 | c.1057G>A (p.Val353Met) c.-55+1491G>A (n.-55+1491G>A) | gnomAD v4 |
4 | g.125317468G>C | CA358117106 | FAT4 | c.1057G>C (p.Val353Leu) c.-55+1491G>C (n.-55+1491G>C) | |
4 | g.125317468G>T | CA358117107 | FAT4 | c.1057G>T (p.Val353Leu) c.-55+1491G>T (n.-55+1491G>T) | |
4 | g.125317469T>A | CA358117108 | FAT4 | c.1058T>A (p.Val353Glu) c.-55+1492T>A (n.-55+1492T>A) | |
4 | g.125317469T>C | CA3071910 | FAT4 | c.1058T>C (p.Val353Ala) c.-55+1492T>C (n.-55+1492T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317469T>G | CA358117109 | FAT4 | c.1058T>G (p.Val353Gly) c.-55+1492T>G (n.-55+1492T>G) | |
4 | g.125317469T= | CA1491599918 | FAT4 | c.1058T= (p.Val353=) c.-55+1492T= (n.-55+1492T=) | |
4 | g.125317470G>A | CA441366370 | FAT4 | c.1059G>A (p.Val353=) c.-55+1493G>A (n.-55+1493G>A) | ClinVar |
4 | g.125317470G>C | CA441366372 | FAT4 | c.1059G>C (p.Val353=) c.-55+1493G>C (n.-55+1493G>C) | |
4 | g.125317470G>T | CA441366373 | FAT4 | c.1059G>T (p.Val353=) c.-55+1493G>T (n.-55+1493G>T) | |
4 | g.125317471A>C | CA358117112 | FAT4 | c.1060A>C (p.Lys354Gln) c.-55+1494A>C (n.-55+1494A>C) | |
4 | g.125317471A>G | CA358117111 | FAT4 | c.1060A>G (p.Lys354Glu) c.-55+1494A>G (n.-55+1494A>G) | |
4 | g.125317471A>T | CA358117110 | FAT4 | c.1060A>T (p.Lys354Ter) c.-55+1494A>T (n.-55+1494A>T) | |
4 | g.125317472A>C | CA358117113 | FAT4 | c.1061A>C (p.Lys354Thr) c.-55+1495A>C (n.-55+1495A>C) | |
4 | g.125317472A>G | CA358117114 | FAT4 | c.1061A>G (p.Lys354Arg) c.-55+1495A>G (n.-55+1495A>G) | gnomAD v4 |
4 | g.125317472A>T | CA358117115 | FAT4 | c.1061A>T (p.Lys354Met) c.-55+1495A>T (n.-55+1495A>T) | |
4 | g.125317473G>A | CA3071911 | FAT4 | c.1062G>A (p.Lys354=) c.-55+1496G>A (n.-55+1496G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317473G>C | CA358117116 | FAT4 | c.1062G>C (p.Lys354Asn) c.-55+1496G>C (n.-55+1496G>C) | gnomAD v4 |
4 | g.125317473G= | CA1491599926 | FAT4 | c.1062G= (p.Lys354=) c.-55+1496G= (n.-55+1496G=) | |
4 | g.125317473G>T | CA358117117 | FAT4 | c.1062G>T (p.Lys354Asn) c.-55+1496G>T (n.-55+1496G>T) | gnomAD v4 |
4 | g.125317474T>A | CA358117118 | FAT4 | c.1063T>A (p.Phe355Ile) c.-55+1497T>A (n.-55+1497T>A) | ClinVar dbSNP gnomAD v4 |
4 | g.125317474T>C | CA358117120 | FAT4 | c.1063T>C (p.Phe355Leu) c.-55+1497T>C (n.-55+1497T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317474T>G | CA358117119 | FAT4 | c.1063T>G (p.Phe355Val) c.-55+1497T>G (n.-55+1497T>G) | |
4 | g.125317474T= | CA1491599931 | FAT4 | c.1063T= (p.Phe355=) c.-55+1497T= (n.-55+1497T=) | |
4 | g.125317475T>A | CA358117121 | FAT4 | c.1064T>A (p.Phe355Tyr) c.-55+1498T>A (n.-55+1498T>A) | |
4 | g.125317475T>C | CA358117122 | FAT4 | c.1064T>C (p.Phe355Ser) c.-55+1498T>C (n.-55+1498T>C) | |
4 | g.125317475T>G | CA358117123 | FAT4 | c.1064T>G (p.Phe355Cys) c.-55+1498T>G (n.-55+1498T>G) | |
4 | g.125317476C>A | CA358117124 | FAT4 | c.1065C>A (p.Phe355Leu) c.-55+1499C>A (n.-55+1499C>A) | |
4 | g.125317476C>G | CA358117125 | FAT4 | c.1065C>G (p.Phe355Leu) c.-55+1499C>G (n.-55+1499C>G) | |
4 | g.125317476C>T | CA441366376 | FAT4 | c.1065C>T (p.Phe355=) c.-55+1499C>T (n.-55+1499C>T) | |
4 | g.125317477C>A | CA358117126 | FAT4 | c.1066C>A (p.Arg356Ser) c.-55+1500C>A (n.-55+1500C>A) | |
4 | g.125317477C= | CA1491599935 | FAT4 | c.1066C= (p.Arg356=) c.-55+1500C= (n.-55+1500C=) | |
4 | g.125317477C>G | CA358117127 | FAT4 | c.1066C>G (p.Arg356Gly) c.-55+1500C>G (n.-55+1500C>G) | gnomAD v4 |
4 | g.125317477C>T | CA104861787 | FAT4 | c.1066C>T (p.Arg356Cys) c.-55+1500C>T (n.-55+1500C>T) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317478G>A | CA358117128 | FAT4 | c.1067G>A (p.Arg356His) c.-55+1501G>A (n.-55+1501G>A) | COSMIC COSMIC |
4 | g.125317478G>C | CA358117129 | FAT4 | c.1067G>C (p.Arg356Pro) c.-55+1501G>C (n.-55+1501G>C) | |
4 | g.125317478G>T | CA358117130 | FAT4 | c.1067G>T (p.Arg356Leu) c.-55+1501G>T (n.-55+1501G>T) | |
4 | g.125317479C>A | CA441366379 | FAT4 | c.1068C>A (p.Arg356=) c.-55+1502C>A (n.-55+1502C>A) | |
4 | g.125317479C>G | CA441366380 | FAT4 | c.1068C>G (p.Arg356=) c.-55+1502C>G (n.-55+1502C>G) | |
4 | g.125317479C>T | CA441366381 | FAT4 | c.1068C>T (p.Arg356=) c.-55+1502C>T (n.-55+1502C>T) | |
4 | g.125317480T>A | CA358117131 | FAT4 | c.1069T>A (p.Tyr357Asn) c.-55+1503T>A (n.-55+1503T>A) | |
4 | g.125317480T>C | CA358117133 | FAT4 | c.1069T>C (p.Tyr357His) c.-55+1503T>C (n.-55+1503T>C) | |
4 | g.125317480T>G | CA358117132 | FAT4 | c.1069T>G (p.Tyr357Asp) c.-55+1503T>G (n.-55+1503T>G) | |
4 | g.125317481A>C | CA358117134 | FAT4 | c.1070A>C (p.Tyr357Ser) c.-55+1504A>C (n.-55+1504A>C) | |
4 | g.125317481A>G | CA358117135 | FAT4 | c.1070A>G (p.Tyr357Cys) c.-55+1504A>G (n.-55+1504A>G) | gnomAD v4 |
4 | g.125317481A>T | CA358117136 | FAT4 | c.1070A>T (p.Tyr357Phe) c.-55+1504A>T (n.-55+1504A>T) | |
4 | g.125317482C>A | CA358117137 | FAT4 | c.1071C>A (p.Tyr357Ter) c.-55+1505C>A (n.-55+1505C>A) | |
4 | g.125317482C>G | CA358117138 | FAT4 | c.1071C>G (p.Tyr357Ter) c.-55+1505C>G (n.-55+1505C>G) | |
4 | g.125317482C>T | CA441366383 | FAT4 | c.1071C>T (p.Tyr357=) c.-55+1505C>T (n.-55+1505C>T) | gnomAD v4 |
4 | g.125317483T>A | CA358117139 | FAT4 | c.1072T>A (p.Phe358Ile) c.-55+1506T>A (n.-55+1506T>A) | |
4 | g.125317483T>C | CA358117140 | FAT4 | c.1072T>C (p.Phe358Leu) c.-55+1506T>C (n.-55+1506T>C) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317483T>G | CA358117141 | FAT4 | c.1072T>G (p.Phe358Val) c.-55+1506T>G (n.-55+1506T>G) | |
4 | g.125317483T= | CA1491599942 | FAT4 | c.1072T= (p.Phe358=) c.-55+1506T= (n.-55+1506T=) | |
4 | g.125317484T>A | CA3071912 | FAT4 | c.1073T>A (p.Phe358Tyr) c.-55+1507T>A (n.-55+1507T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317484T>C | CA358117142 | FAT4 | c.1073T>C (p.Phe358Ser) c.-55+1507T>C (n.-55+1507T>C) | |
4 | g.125317484T>G | CA358117143 | FAT4 | c.1073T>G (p.Phe358Cys) c.-55+1507T>G (n.-55+1507T>G) | |
4 | g.125317484T= | CA1491599950 | FAT4 | c.1073T= (p.Phe358=) c.-55+1507T= (n.-55+1507T=) | |
4 | g.125317485C>A | CA358117144 | FAT4 | c.1074C>A (p.Phe358Leu) c.-55+1508C>A (n.-55+1508C>A) | |
4 | g.125317485C= | CA1491599954 | FAT4 | c.1074C= (p.Phe358=) c.-55+1508C= (n.-55+1508C=) | |
4 | g.125317485C>G | CA358117145 | FAT4 | c.1074C>G (p.Phe358Leu) c.-55+1508C>G (n.-55+1508C>G) | dbSNP |
4 | g.125317485C>T | CA441366387 | FAT4 | c.1074C>T (p.Phe358=) c.-55+1508C>T (n.-55+1508C>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317486C>A | CA358117146 | FAT4 | c.1075C>A (p.Pro359Thr) c.-55+1509C>A (n.-55+1509C>A) | |
4 | g.125317486C>G | CA358117148 | FAT4 | c.1075C>G (p.Pro359Ala) c.-55+1509C>G (n.-55+1509C>G) | gnomAD v4 |
4 | g.125317486C>T | CA358117147 | FAT4 | c.1075C>T (p.Pro359Ser) c.-55+1509C>T (n.-55+1509C>T) | |
4 | g.125317487C>A | CA358117149 | FAT4 | c.1076C>A (p.Pro359Gln) c.-55+1510C>A (n.-55+1510C>A) | |
4 | g.125317487C= | CA1491599963 | FAT4 | c.1076C= (p.Pro359=) c.-55+1510C= (n.-55+1510C=) | |
4 | g.125317487C>G | CA358117150 | FAT4 | c.1076C>G (p.Pro359Arg) c.-55+1510C>G (n.-55+1510C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317487C>T | CA358117151 | FAT4 | c.1076C>T (p.Pro359Leu) c.-55+1510C>T (n.-55+1510C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317488G>A | CA441366390 | FAT4 | c.1077G>A (p.Pro359=) c.-55+1511G>A (n.-55+1511G>A) | ClinVar dbSNP gnomAD v4 |
4 | g.125317488G>C | CA441366391 | FAT4 | c.1077G>C (p.Pro359=) c.-55+1511G>C (n.-55+1511G>C) | |
4 | g.125317488G= | CA1491599968 | FAT4 | c.1077G= (p.Pro359=) c.-55+1511G= (n.-55+1511G=) | |
4 | g.125317488G>T | CA441366392 | FAT4 | c.1077G>T (p.Pro359=) c.-55+1511G>T (n.-55+1511G>T) | |
4 | g.125317489G>A | CA358117152 | FAT4 | c.1078G>A (p.Ala360Thr) c.-55+1512G>A (n.-55+1512G>A) | |
4 | g.125317489G>C | CA358117153 | FAT4 | c.1078G>C (p.Ala360Pro) c.-55+1512G>C (n.-55+1512G>C) | gnomAD v4 |
4 | g.125317489G>T | CA358117154 | FAT4 | c.1078G>T (p.Ala360Ser) c.-55+1512G>T (n.-55+1512G>T) | |
4 | g.125317490C>A | CA358117155 | FAT4 | c.1079C>A (p.Ala360Asp) c.-55+1513C>A (n.-55+1513C>A) | |
4 | g.125317490C>G | CA358117156 | FAT4 | c.1079C>G (p.Ala360Gly) c.-55+1513C>G (n.-55+1513C>G) | |
4 | g.125317490C>T | CA358117157 | FAT4 | c.1079C>T (p.Ala360Val) c.-55+1513C>T (n.-55+1513C>T) | |
4 | g.125317491C>A | CA441366396 | FAT4 | c.1080C>A (p.Ala360=) c.-55+1514C>A (n.-55+1514C>A) | |
4 | g.125317491C>G | CA441366397 | FAT4 | c.1080C>G (p.Ala360=) c.-55+1514C>G (n.-55+1514C>G) | gnomAD v4 |
4 | g.125317491C>T | CA441366398 | FAT4 | c.1080C>T (p.Ala360=) c.-55+1514C>T (n.-55+1514C>T) | |
4 | g.125317492A>C | CA358117160 | FAT4 | c.1081A>C (p.Thr361Pro) c.-55+1515A>C (n.-55+1515A>C) | |
4 | g.125317492A>G | CA358117159 | FAT4 | c.1081A>G (p.Thr361Ala) c.-55+1515A>G (n.-55+1515A>G) | |
4 | g.125317492A>T | CA358117158 | FAT4 | c.1081A>T (p.Thr361Ser) c.-55+1515A>T (n.-55+1515A>T) | |
4 | g.125317493C>A | CA358117161 | FAT4 | c.1082C>A (p.Thr361Asn) c.-55+1516C>A (n.-55+1516C>A) | |
4 | g.125317493C>G | CA358117163 | FAT4 | c.1082C>G (p.Thr361Ser) c.-55+1516C>G (n.-55+1516C>G) | |
4 | g.125317493C>T | CA358117162 | FAT4 | c.1082C>T (p.Thr361Ile) c.-55+1516C>T (n.-55+1516C>T) | dbSNP |
4 | g.125317494C>A | CA441366400 | FAT4 | c.1083C>A (p.Thr361=) c.-55+1517C>A (n.-55+1517C>A) | |
4 | g.125317494C= | CA1491599972 | FAT4 | c.1083C= (p.Thr361=) c.-55+1517C= (n.-55+1517C=) | |
4 | g.125317494C>G | CA441366401 | FAT4 | c.1083C>G (p.Thr361=) c.-55+1517C>G (n.-55+1517C>G) | dbSNP gnomAD v4 |
4 | g.125317494C>T | CA441366402 | FAT4 | c.1083C>T (p.Thr361=) c.-55+1517C>T (n.-55+1517C>T) | |
4 | g.125317495T>A | CA358117164 | FAT4 | c.1084T>A (p.Ser362Thr) c.-55+1518T>A (n.-55+1518T>A) | |
4 | g.125317495T>C | CA358117165 | FAT4 | c.1084T>C (p.Ser362Pro) c.-55+1518T>C (n.-55+1518T>C) | dbSNP gnomAD v4 |
4 | g.125317495T>G | CA358117166 | FAT4 | c.1084T>G (p.Ser362Ala) c.-55+1518T>G (n.-55+1518T>G) | |
4 | g.125317495T= | CA1491599977 | FAT4 | c.1084T= (p.Ser362=) c.-55+1518T= (n.-55+1518T=) | |
4 | g.125317496C>A | CA358117167 | FAT4 | c.1085C>A (p.Ser362Ter) c.-55+1519C>A (n.-55+1519C>A) | |
4 | g.125317496C= | CA1491599980 | FAT4 | c.1085C= (p.Ser362=) c.-55+1519C= (n.-55+1519C=) | |
4 | g.125317496C>G | CA358117168 | FAT4 | c.1085C>G (p.Ser362Trp) c.-55+1519C>G (n.-55+1519C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317496C>T | CA358117169 | FAT4 | c.1085C>T (p.Ser362Leu) c.-55+1519C>T (n.-55+1519C>T) | gnomAD v4 |
4 | g.125317497G>A | CA441366479 | FAT4 | c.1086G>A (p.Ser362=) c.-55+1520G>A (n.-55+1520G>A) | |
4 | g.125317497G>C | CA441366478 | FAT4 | c.1086G>C (p.Ser362=) c.-55+1520G>C (n.-55+1520G>C) | |
4 | g.125317497G>T | CA441366477 | FAT4 | c.1086G>T (p.Ser362=) c.-55+1520G>T (n.-55+1520G>T) | ClinVar |
4 | g.125317498C>A | CA358117170 | FAT4 | c.1087C>A (p.Arg363Ser) c.-55+1521C>A (n.-55+1521C>A) | |
4 | g.125317498C>G | CA358117171 | FAT4 | c.1087C>G (p.Arg363Gly) c.-55+1521C>G (n.-55+1521C>G) | |
4 | g.125317498C>T | CA358117172 | FAT4 | c.1087C>T (p.Arg363Cys) c.-55+1521C>T (n.-55+1521C>T) | gnomAD v4 COSMIC COSMIC |
4 | g.125317499G>A | CA104861795 | FAT4 | c.1088G>A (p.Arg363His) c.-55+1522G>A (n.-55+1522G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317499G>C | CA358117173 | FAT4 | c.1088G>C (p.Arg363Pro) c.-55+1522G>C (n.-55+1522G>C) | gnomAD v4 |
4 | g.125317499G= | CA1491599983 | FAT4 | c.1088G= (p.Arg363=) c.-55+1522G= (n.-55+1522G=) | |
4 | g.125317499G>T | CA358117174 | FAT4 | c.1088G>T (p.Arg363Leu) c.-55+1522G>T (n.-55+1522G>T) | |
4 | g.125317500C>A | CA441366484 | FAT4 | c.1089C>A (p.Arg363=) c.-55+1523C>A (n.-55+1523C>A) | |
4 | g.125317500C= | CA1491599987 | FAT4 | c.1089C= (p.Arg363=) c.-55+1523C= (n.-55+1523C=) | |
4 | g.125317500C>G | CA3071913 | FAT4 | c.1089C>G (p.Arg363=) c.-55+1523C>G (n.-55+1523C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317500C>T | CA441366487 | FAT4 | c.1089C>T (p.Arg363=) c.-55+1523C>T (n.-55+1523C>T) | |
4 | g.125317501T>A | CA358117175 | FAT4 | c.1090T>A (p.Tyr364Asn) c.-55+1524T>A (n.-55+1524T>A) | |
4 | g.125317501T>C | CA358117176 | FAT4 | c.1090T>C (p.Tyr364His) c.-55+1524T>C (n.-55+1524T>C) | |
4 | g.125317501T>G | CA358117177 | FAT4 | c.1090T>G (p.Tyr364Asp) c.-55+1524T>G (n.-55+1524T>G) | |
4 | g.125317502A= | CA1491599991 | FAT4 | c.1091A= (p.Tyr364=) c.-55+1525A= (n.-55+1525A=) | |
4 | g.125317502A>C | CA358117178 | FAT4 | c.1091A>C (p.Tyr364Ser) c.-55+1525A>C (n.-55+1525A>C) | |
4 | g.125317502A>G | CA3071914 | FAT4 | c.1091A>G (p.Tyr364Cys) c.-55+1525A>G (n.-55+1525A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317502A>T | CA358117179 | FAT4 | c.1091A>T (p.Tyr364Phe) c.-55+1525A>T (n.-55+1525A>T) | |
4 | g.125317503C>A | CA358117180 | FAT4 | c.1092C>A (p.Tyr364Ter) c.-55+1526C>A (n.-55+1526C>A) | |
4 | g.125317503C= | CA1491599994 | FAT4 | c.1092C= (p.Tyr364=) c.-55+1526C= (n.-55+1526C=) | |
4 | g.125317503C>G | CA358117181 | FAT4 | c.1092C>G (p.Tyr364Ter) c.-55+1526C>G (n.-55+1526C>G) | |
4 | g.125317503C>T | CA441366493 | FAT4 | c.1092C>T (p.Tyr364=) c.-55+1526C>T (n.-55+1526C>T) | ClinVar dbSNP gnomAD v4 |
4 | g.125317504G>A | CA358117182 | FAT4 | c.1093G>A (p.Ala365Thr) c.-55+1527G>A (n.-55+1527G>A) | |
4 | g.125317504G>C | CA358117183 | FAT4 | c.1093G>C (p.Ala365Pro) c.-55+1527G>C (n.-55+1527G>C) | |
4 | g.125317504G>T | CA358117184 | FAT4 | c.1093G>T (p.Ala365Ser) c.-55+1527G>T (n.-55+1527G>T) | gnomAD v4 |
4 | g.125317505C>A | CA358117185 | FAT4 | c.1094C>A (p.Ala365Asp) c.-55+1528C>A (n.-55+1528C>A) | |
4 | g.125317505C>G | CA358117186 | FAT4 | c.1094C>G (p.Ala365Gly) c.-55+1528C>G (n.-55+1528C>G) | |
4 | g.125317505C>T | CA358117187 | FAT4 | c.1094C>T (p.Ala365Val) c.-55+1528C>T (n.-55+1528C>T) | |
4 | g.125317506C>A | CA441366499 | FAT4 | c.1095C>A (p.Ala365=) c.-55+1529C>A (n.-55+1529C>A) | ClinVar dbSNP gnomAD v4 |
4 | g.125317506C>G | CA441366501 | FAT4 | c.1095C>G (p.Ala365=) c.-55+1529C>G (n.-55+1529C>G) | |
4 | g.125317506C>T | CA441366502 | FAT4 | c.1095C>T (p.Ala365=) c.-55+1529C>T (n.-55+1529C>T) | |
4 | g.125317507T>A | CA358117190 | FAT4 | c.1096T>A (p.Ser366Thr) c.-55+1530T>A (n.-55+1530T>A) | |
4 | g.125317507T>C | CA358117188 | FAT4 | c.1096T>C (p.Ser366Pro) c.-55+1530T>C (n.-55+1530T>C) | |
4 | g.125317507T>G | CA358117189 | FAT4 | c.1096T>G (p.Ser366Ala) c.-55+1530T>G (n.-55+1530T>G) | |
4 | g.125317508C>A | CA358117191 | FAT4 | c.1097C>A (p.Ser366Ter) c.-55+1531C>A (n.-55+1531C>A) | |
4 | g.125317508C>G | CA358117192 | FAT4 | c.1097C>G (p.Ser366Trp) c.-55+1531C>G (n.-55+1531C>G) | gnomAD v4 |
4 | g.125317508C>T | CA358117193 | FAT4 | c.1097C>T (p.Ser366Leu) c.-55+1531C>T (n.-55+1531C>T) | gnomAD v4 |
4 | g.125317509G>A | CA3071915 | FAT4 | c.1098G>A (p.Ser366=) c.-55+1532G>A (n.-55+1532G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.125317509G>C | CA441366508 | FAT4 | c.1098G>C (p.Ser366=) c.-55+1532G>C (n.-55+1532G>C) | gnomAD v4 |
4 | g.125317509G= | CA1491600000 | FAT4 | c.1098G= (p.Ser366=) c.-55+1532G= (n.-55+1532G=) | |
4 | g.125317509G>T | CA441366509 | FAT4 | c.1098G>T (p.Ser366=) c.-55+1532G>T (n.-55+1532G>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317509_125317514dup | CA2672009308 | FAT4 | c.1098_1103dup (p.Val367_Asp368insGluVal) c.-55+1532_-55+1537dup (n.-55+1532_-55+1537dup) | gnomAD v4 |
4 | g.125317510G>A | CA3071916 | FAT4 | c.1099G>A (p.Val367Ile) c.-55+1533G>A (n.-55+1533G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317510G>C | CA358117194 | FAT4 | c.1099G>C (p.Val367Leu) c.-55+1533G>C (n.-55+1533G>C) | gnomAD v4 |
4 | g.125317510G= | CA1491600011 | FAT4 | c.1099G= (p.Val367=) c.-55+1533G= (n.-55+1533G=) | |
4 | g.125317510G>T | CA358117195 | FAT4 | c.1099G>T (p.Val367Leu) c.-55+1533G>T (n.-55+1533G>T) | |
4 | g.125317511T>A | CA358117196 | FAT4 | c.1100T>A (p.Val367Glu) c.-55+1534T>A (n.-55+1534T>A) | |
4 | g.125317511T>C | CA358117198 | FAT4 | c.1100T>C (p.Val367Ala) c.-55+1534T>C (n.-55+1534T>C) | |
4 | g.125317511T>G | CA358117197 | FAT4 | c.1100T>G (p.Val367Gly) c.-55+1534T>G (n.-55+1534T>G) | |
4 | g.125317512A= | CA1491600024 | FAT4 | c.1101A= (p.Val367=) c.-55+1535A= (n.-55+1535A=) | |
4 | g.125317512A>C | CA441366516 | FAT4 | c.1101A>C (p.Val367=) c.-55+1535A>C (n.-55+1535A>C) | |
4 | g.125317512A>G | CA3071917 | FAT4 | c.1101A>G (p.Val367=) c.-55+1535A>G (n.-55+1535A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317512A>T | CA441366519 | FAT4 | c.1101A>T (p.Val367=) c.-55+1535A>T (n.-55+1535A>T) | |
4 | g.125317513G>A | CA358117199 | FAT4 | c.1102G>A (p.Asp368Asn) c.-55+1536G>A (n.-55+1536G>A) | |
4 | g.125317513G>C | CA358117200 | FAT4 | c.1102G>C (p.Asp368His) c.-55+1536G>C (n.-55+1536G>C) | |
4 | g.125317513G>T | CA358117201 | FAT4 | c.1102G>T (p.Asp368Tyr) c.-55+1536G>T (n.-55+1536G>T) | |
4 | g.125317514A= | CA1491600028 | FAT4 | c.1103A= (p.Asp368=) c.-55+1537A= (n.-55+1537A=) | |
4 | g.125317514A>C | CA358117202 | FAT4 | c.1103A>C (p.Asp368Ala) c.-55+1537A>C (n.-55+1537A>C) | dbSNP |
4 | g.125317514A>G | CA358117204 | FAT4 | c.1103A>G (p.Asp368Gly) c.-55+1537A>G (n.-55+1537A>G) | gnomAD v4 |
4 | g.125317514A>T | CA358117203 | FAT4 | c.1103A>T (p.Asp368Val) c.-55+1537A>T (n.-55+1537A>T) | |
4 | g.125317515T>A | CA358117205 | FAT4 | c.1104T>A (p.Asp368Glu) c.-55+1538T>A (n.-55+1538T>A) | |
4 | g.125317515T>C | CA3071918 | FAT4 | c.1104T>C (p.Asp368=) c.-55+1538T>C (n.-55+1538T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317515T>G | CA358117206 | FAT4 | c.1104T>G (p.Asp368Glu) c.-55+1538T>G (n.-55+1538T>G) | gnomAD v4 |
4 | g.125317515T= | CA1491600036 | FAT4 | c.1104T= (p.Asp368=) c.-55+1538T= (n.-55+1538T=) | |
4 | g.125317516G>A | CA358117207 | FAT4 | c.1105G>A (p.Glu369Lys) c.-55+1539G>A (n.-55+1539G>A) | |
4 | g.125317516G>C | CA358117208 | FAT4 | c.1105G>C (p.Glu369Gln) c.-55+1539G>C (n.-55+1539G>C) | |
4 | g.125317516G>T | CA358117209 | FAT4 | c.1105G>T (p.Glu369Ter) c.-55+1539G>T (n.-55+1539G>T) | |
4 | g.125317517A>C | CA358117210 | FAT4 | c.1106A>C (p.Glu369Ala) c.-55+1540A>C (n.-55+1540A>C) | |
4 | g.125317517A>G | CA358117211 | FAT4 | c.1106A>G (p.Glu369Gly) c.-55+1540A>G (n.-55+1540A>G) | |
4 | g.125317517A>T | CA358117212 | FAT4 | c.1106A>T (p.Glu369Val) c.-55+1540A>T (n.-55+1540A>T) | |
4 | g.125317518G>A | CA441366528 | FAT4 | c.1107G>A (p.Glu369=) c.-55+1541G>A (n.-55+1541G>A) | ClinVar dbSNP |
4 | g.125317518G>C | CA358117213 | FAT4 | c.1107G>C (p.Glu369Asp) c.-55+1541G>C (n.-55+1541G>C) | |
4 | g.125317518G= | CA1491600045 | FAT4 | c.1107G= (p.Glu369=) c.-55+1541G= (n.-55+1541G=) | |
4 | g.125317518G>T | CA358117214 | FAT4 | c.1107G>T (p.Glu369Asp) c.-55+1541G>T (n.-55+1541G>T) | |
4 | g.125317519A>C | CA358117215 | FAT4 | c.1108A>C (p.Asn370His) c.-55+1542A>C (n.-55+1542A>C) | |
4 | g.125317519A>G | CA358117217 | FAT4 | c.1108A>G (p.Asn370Asp) c.-55+1542A>G (n.-55+1542A>G) | |
4 | g.125317519A>T | CA358117216 | FAT4 | c.1108A>T (p.Asn370Tyr) c.-55+1542A>T (n.-55+1542A>T) | |
4 | g.125317520A>C | CA358117218 | FAT4 | c.1109A>C (p.Asn370Thr) c.-55+1543A>C (n.-55+1543A>C) | |
4 | g.125317520A>G | CA358117219 | FAT4 | c.1109A>G (p.Asn370Ser) c.-55+1543A>G (n.-55+1543A>G) | |
4 | g.125317520A>T | CA358117220 | FAT4 | c.1109A>T (p.Asn370Ile) c.-55+1543A>T (n.-55+1543A>T) | |
4 | g.125317521T>A | CA358117221 | FAT4 | c.1110T>A (p.Asn370Lys) c.-55+1544T>A (n.-55+1544T>A) | |
4 | g.125317521T>C | CA441366533 | FAT4 | c.1110T>C (p.Asn370=) c.-55+1544T>C (n.-55+1544T>C) | |
4 | g.125317521T>G | CA358117222 | FAT4 | c.1110T>G (p.Asn370Lys) c.-55+1544T>G (n.-55+1544T>G) | |
4 | g.125317522G>A | CA358117225 | FAT4 | c.1111G>A (p.Ala371Thr) c.-55+1545G>A (n.-55+1545G>A) | dbSNP |
4 | g.125317522G>C | CA358117224 | FAT4 | c.1111G>C (p.Ala371Pro) c.-55+1545G>C (n.-55+1545G>C) | |
4 | g.125317522G= | CA1491600052 | FAT4 | c.1111G= (p.Ala371=) c.-55+1545G= (n.-55+1545G=) | |
4 | g.125317522G>T | CA358117223 | FAT4 | c.1111G>T (p.Ala371Ser) c.-55+1545G>T (n.-55+1545G>T) | |
4 | g.125317523C>A | CA358117226 | FAT4 | c.1112C>A (p.Ala371Asp) c.-55+1546C>A (n.-55+1546C>A) | |
4 | g.125317523C>G | CA358117227 | FAT4 | c.1112C>G (p.Ala371Gly) c.-55+1546C>G (n.-55+1546C>G) | |
4 | g.125317523C>T | CA358117228 | FAT4 | c.1112C>T (p.Ala371Val) c.-55+1546C>T (n.-55+1546C>T) | |
4 | g.125317524T>A | CA441366540 | FAT4 | c.1113T>A (p.Ala371=) c.-55+1547T>A (n.-55+1547T>A) | |
4 | g.125317524T>C | CA441366542 | FAT4 | c.1113T>C (p.Ala371=) c.-55+1547T>C (n.-55+1547T>C) | |
4 | g.125317524T>G | CA441366541 | FAT4 | c.1113T>G (p.Ala371=) c.-55+1547T>G (n.-55+1547T>G) | |
4 | g.125317525C>A | CA358117229 | FAT4 | c.1114C>A (p.Gln372Lys) c.-55+1548C>A (n.-55+1548C>A) | |
4 | g.125317525C>G | CA358117230 | FAT4 | c.1114C>G (p.Gln372Glu) c.-55+1548C>G (n.-55+1548C>G) | gnomAD v4 |
4 | g.125317525C>T | CA358117231 | FAT4 | c.1114C>T (p.Gln372Ter) c.-55+1548C>T (n.-55+1548C>T) | |
4 | g.125317526A= | CA1491600057 | FAT4 | c.1115A= (p.Gln372=) c.-55+1549A= (n.-55+1549A=) | |
4 | g.125317526A>C | CA358117234 | FAT4 | c.1115A>C (p.Gln372Pro) c.-55+1549A>C (n.-55+1549A>C) | |
4 | g.125317526A>G | CA358117232 | FAT4 | c.1115A>G (p.Gln372Arg) c.-55+1549A>G (n.-55+1549A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317526A>T | CA358117233 | FAT4 | c.1115A>T (p.Gln372Leu) c.-55+1549A>T (n.-55+1549A>T) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317527A>C | CA358117235 | FAT4 | c.1116A>C (p.Gln372His) c.-55+1550A>C (n.-55+1550A>C) | |
4 | g.125317527A>G | CA441366550 | FAT4 | c.1116A>G (p.Gln372=) c.-55+1550A>G (n.-55+1550A>G) | ClinVar gnomAD v4 |
4 | g.125317527A>T | CA358117236 | FAT4 | c.1116A>T (p.Gln372His) c.-55+1550A>T (n.-55+1550A>T) | |
4 | g.125317528G>A | CA358117237 | FAT4 | c.1117G>A (p.Val373Met) c.-55+1551G>A (n.-55+1551G>A) | |
4 | g.125317528G>C | CA358117238 | FAT4 | c.1117G>C (p.Val373Leu) c.-55+1551G>C (n.-55+1551G>C) | |
4 | g.125317528G>T | CA358117239 | FAT4 | c.1117G>T (p.Val373Leu) c.-55+1551G>T (n.-55+1551G>T) | |
4 | g.125317529T>A | CA358117240 | FAT4 | c.1118T>A (p.Val373Glu) c.-55+1552T>A (n.-55+1552T>A) | |
4 | g.125317529T>C | CA358117241 | FAT4 | c.1118T>C (p.Val373Ala) c.-55+1552T>C (n.-55+1552T>C) | |
4 | g.125317529T>G | CA358117242 | FAT4 | c.1118T>G (p.Val373Gly) c.-55+1552T>G (n.-55+1552T>G) | |
4 | g.125317530G>A | CA441366554 | FAT4 | c.1119G>A (p.Val373=) c.-55+1553G>A (n.-55+1553G>A) | |
4 | g.125317530G>C | CA441366555 | FAT4 | c.1119G>C (p.Val373=) c.-55+1553G>C (n.-55+1553G>C) | |
4 | g.125317530G= | CA1491600064 | FAT4 | c.1119G= (p.Val373=) c.-55+1553G= (n.-55+1553G=) | |
4 | g.125317530G>T | CA3071919 | FAT4 | c.1119G>T (p.Val373=) c.-55+1553G>T (n.-55+1553G>T) | dbSNP ExAC gnomAD v2 |
4 | g.125317531G>A | CA358117243 | FAT4 | c.1120G>A (p.Gly374Ser) c.-55+1554G>A (n.-55+1554G>A) | gnomAD v4 |
4 | g.125317531G>C | CA358117244 | FAT4 | c.1120G>C (p.Gly374Arg) c.-55+1554G>C (n.-55+1554G>C) | |
4 | g.125317531G>T | CA358117245 | FAT4 | c.1120G>T (p.Gly374Cys) c.-55+1554G>T (n.-55+1554G>T) | |
4 | g.125317532G>A | CA358117246 | FAT4 | c.1121G>A (p.Gly374Asp) c.-55+1555G>A (n.-55+1555G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317532G>C | CA358117248 | FAT4 | c.1121G>C (p.Gly374Ala) c.-55+1555G>C (n.-55+1555G>C) | |
4 | g.125317532G= | CA1491600070 | FAT4 | c.1121G= (p.Gly374=) c.-55+1555G= (n.-55+1555G=) | |
4 | g.125317532G>T | CA358117247 | FAT4 | c.1121G>T (p.Gly374Val) c.-55+1555G>T (n.-55+1555G>T) | |
4 | g.125317533C>A | CA441366562 | FAT4 | c.1122C>A (p.Gly374=) c.-55+1556C>A (n.-55+1556C>A) | |
4 | g.125317533C= | CA1491600073 | FAT4 | c.1122C= (p.Gly374=) c.-55+1556C= (n.-55+1556C=) | |
4 | g.125317533C>G | CA441366564 | FAT4 | c.1122C>G (p.Gly374=) c.-55+1556C>G (n.-55+1556C>G) | |
4 | g.125317533C>T | CA3071920 | FAT4 | c.1122C>T (p.Gly374=) c.-55+1556C>T (n.-55+1556C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317534A= | CA1491600081 | FAT4 | c.1123A= (p.Thr375=) c.-55+1557A= (n.-55+1557A=) | |
4 | g.125317534A>C | CA358117249 | FAT4 | c.1123A>C (p.Thr375Pro) c.-55+1557A>C (n.-55+1557A>C) | |
4 | g.125317534A>G | CA358117250 | FAT4 | c.1123A>G (p.Thr375Ala) c.-55+1557A>G (n.-55+1557A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317534A>T | CA358117251 | FAT4 | c.1123A>T (p.Thr375Ser) c.-55+1557A>T (n.-55+1557A>T) | |
4 | g.125317535C>A | CA358117252 | FAT4 | c.1124C>A (p.Thr375Asn) c.-55+1558C>A (n.-55+1558C>A) | |
4 | g.125317535C= | CA1491600086 | FAT4 | c.1124C= (p.Thr375=) c.-55+1558C= (n.-55+1558C=) | |
4 | g.125317535C>G | CA358117253 | FAT4 | c.1124C>G (p.Thr375Ser) c.-55+1558C>G (n.-55+1558C>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317535C>T | CA358117254 | FAT4 | c.1124C>T (p.Thr375Ile) c.-55+1558C>T (n.-55+1558C>T) | |
4 | g.125317536C>A | CA441366572 | FAT4 | c.1125C>A (p.Thr375=) c.-55+1559C>A (n.-55+1559C>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.125317536C= | CA1491600091 | FAT4 | c.1125C= (p.Thr375=) c.-55+1559C= (n.-55+1559C=) | |
4 | g.125317536C>G | CA441366573 | FAT4 | c.1125C>G (p.Thr375=) c.-55+1559C>G (n.-55+1559C>G) | |
4 | g.125317536C>T | CA104861845 | FAT4 | c.1125C>T (p.Thr375=) c.-55+1559C>T (n.-55+1559C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317537G>A | CA3071921 | FAT4 | c.1126G>A (p.Val376Met) c.-55+1560G>A (n.-55+1560G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.125317537G>C | CA358117255 | FAT4 | c.1126G>C (p.Val376Leu) c.-55+1560G>C (n.-55+1560G>C) | dbSNP gnomAD v4 |
4 | g.125317537G= | CA1491600097 | FAT4 | c.1126G= (p.Val376=) c.-55+1560G= (n.-55+1560G=) | |
4 | g.125317537G>T | CA358117256 | FAT4 | c.1126G>T (p.Val376Leu) c.-55+1560G>T (n.-55+1560G>T) | |
4 | g.125317538T>A | CA358117257 | FAT4 | c.1127T>A (p.Val376Glu) c.-55+1561T>A (n.-55+1561T>A) | |
4 | g.125317538T>C | CA358117258 | FAT4 | c.1127T>C (p.Val376Ala) c.-55+1561T>C (n.-55+1561T>C) | |
4 | g.125317538T>G | CA358117259 | FAT4 | c.1127T>G (p.Val376Gly) c.-55+1561T>G (n.-55+1561T>G) | |
4 | g.125317539G>A | CA3071922 | FAT4 | c.1128G>A (p.Val376=) c.-55+1562G>A (n.-55+1562G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317539G>C | CA441366578 | FAT4 | c.1128G>C (p.Val376=) c.-55+1562G>C (n.-55+1562G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317539G= | CA1491600100 | FAT4 | c.1128G= (p.Val376=) c.-55+1562G= (n.-55+1562G=) | |
4 | g.125317539G>T | CA441366576 | FAT4 | c.1128G>T (p.Val376=) c.-55+1562G>T (n.-55+1562G>T) | |
4 | g.125317540G>A | CA358117260 | FAT4 | c.1129G>A (p.Val377Met) c.-55+1563G>A (n.-55+1563G>A) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.125317540G>C | CA358117261 | FAT4 | c.1129G>C (p.Val377Leu) c.-55+1563G>C (n.-55+1563G>C) | |
4 | g.125317540G= | CA1491600108 | FAT4 | c.1129G= (p.Val377=) c.-55+1563G= (n.-55+1563G=) | |
4 | g.125317540G>T | CA358117262 | FAT4 | c.1129G>T (p.Val377Leu) c.-55+1563G>T (n.-55+1563G>T) | |
4 | g.125317541T>A | CA358117263 | FAT4 | c.1130T>A (p.Val377Glu) c.-55+1564T>A (n.-55+1564T>A) | |
4 | g.125317541T>C | CA358117264 | FAT4 | c.1130T>C (p.Val377Ala) c.-55+1564T>C (n.-55+1564T>C) | |
4 | g.125317541T>G | CA358117265 | FAT4 | c.1130T>G (p.Val377Gly) c.-55+1564T>G (n.-55+1564T>G) | gnomAD v4 |
4 | g.125317542G>A | CA441366582 | FAT4 | c.1131G>A (p.Val377=) c.-55+1565G>A (n.-55+1565G>A) | |
4 | g.125317542G>C | CA441366584 | FAT4 | c.1131G>C (p.Val377=) c.-55+1565G>C (n.-55+1565G>C) | dbSNP |
4 | g.125317542G= | CA1491600112 | FAT4 | c.1131G= (p.Val377=) c.-55+1565G= (n.-55+1565G=) | |
4 | g.125317542G>T | CA441366583 | FAT4 | c.1131G>T (p.Val377=) c.-55+1565G>T (n.-55+1565G>T) | |
4 | g.125317543G>A | CA358117266 | FAT4 | c.1132G>A (p.Ala378Thr) c.-55+1566G>A (n.-55+1566G>A) | |
4 | g.125317543G>C | CA358117267 | FAT4 | c.1132G>C (p.Ala378Pro) c.-55+1566G>C (n.-55+1566G>C) | |
4 | g.125317543G>T | CA358117268 | FAT4 | c.1132G>T (p.Ala378Ser) c.-55+1566G>T (n.-55+1566G>T) | |
4 | g.125317544C>A | CA358117269 | FAT4 | c.1133C>A (p.Ala378Asp) c.-55+1567C>A (n.-55+1567C>A) | |
4 | g.125317544C>G | CA358117270 | FAT4 | c.1133C>G (p.Ala378Gly) c.-55+1567C>G (n.-55+1567C>G) | |
4 | g.125317544C>T | CA358117271 | FAT4 | c.1133C>T (p.Ala378Val) c.-55+1567C>T (n.-55+1567C>T) | |
4 | g.125317545T>A | CA441366590 | FAT4 | c.1134T>A (p.Ala378=) c.-55+1568T>A (n.-55+1568T>A) | |
4 | g.125317545T>C | CA441366592 | FAT4 | c.1134T>C (p.Ala378=) c.-55+1568T>C (n.-55+1568T>C) | |
4 | g.125317545T>G | CA441366593 | FAT4 | c.1134T>G (p.Ala378=) c.-55+1568T>G (n.-55+1568T>G) | |
4 | g.125317546C>A | CA358117273 | FAT4 | c.1135C>A (p.Leu379Met) c.-55+1569C>A (n.-55+1569C>A) | gnomAD v4 |
4 | g.125317546C>G | CA358117272 | FAT4 | c.1135C>G (p.Leu379Val) c.-55+1569C>G (n.-55+1569C>G) | |
4 | g.125317546C>T | CA441366595 | FAT4 | c.1135C>T (p.Leu379=) c.-55+1569C>T (n.-55+1569C>T) | |
4 | g.125317547T>A | CA358117274 | FAT4 | c.1136T>A (p.Leu379Gln) c.-55+1570T>A (n.-55+1570T>A) | |
4 | g.125317547T>C | CA358117276 | FAT4 | c.1136T>C (p.Leu379Pro) c.-55+1570T>C (n.-55+1570T>C) | |
4 | g.125317547T>G | CA358117275 | FAT4 | c.1136T>G (p.Leu379Arg) c.-55+1570T>G (n.-55+1570T>G) | |
4 | g.125317548G>A | CA3071923 | FAT4 | c.1137G>A (p.Leu379=) c.-55+1571G>A (n.-55+1571G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.125317548G>C | CA441366599 | FAT4 | c.1137G>C (p.Leu379=) c.-55+1571G>C (n.-55+1571G>C) | gnomAD v4 |
4 | g.125317548G= | CA1491600115 | FAT4 | c.1137G= (p.Leu379=) c.-55+1571G= (n.-55+1571G=) | |
4 | g.125317548G>T | CA441366600 | FAT4 | c.1137G>T (p.Leu379=) c.-55+1571G>T (n.-55+1571G>T) | |
4 | g.125317549C>A | CA358117278 | FAT4 | c.1138C>A (p.Leu380Ile) c.-55+1572C>A (n.-55+1572C>A) | |
4 | g.125317549C>G | CA358117277 | FAT4 | c.1138C>G (p.Leu380Val) c.-55+1572C>G (n.-55+1572C>G) | |
4 | g.125317549C>T | CA358117279 | FAT4 | c.1138C>T (p.Leu380Phe) c.-55+1572C>T (n.-55+1572C>T) | gnomAD v4 |
4 | g.125317550T>A | CA358117280 | FAT4 | c.1139T>A (p.Leu380His) c.-55+1573T>A (n.-55+1573T>A) | |
4 | g.125317550T>C | CA358117281 | FAT4 | c.1139T>C (p.Leu380Pro) c.-55+1573T>C (n.-55+1573T>C) | |
4 | g.125317550T>G | CA358117282 | FAT4 | c.1139T>G (p.Leu380Arg) c.-55+1573T>G (n.-55+1573T>G) | |
4 | g.125317551C>A | CA441366606 | FAT4 | c.1140C>A (p.Leu380=) c.-55+1574C>A (n.-55+1574C>A) | gnomAD v4 |
4 | g.125317551C>G | CA441366605 | FAT4 | c.1140C>G (p.Leu380=) c.-55+1574C>G (n.-55+1574C>G) | |
4 | g.125317551C>T | CA441366604 | FAT4 | c.1140C>T (p.Leu380=) c.-55+1574C>T (n.-55+1574C>T) | gnomAD v4 |
4 | g.125317552A>C | CA358117283 | FAT4 | c.1141A>C (p.Thr381Pro) c.-55+1575A>C (n.-55+1575A>C) | |
4 | g.125317552A>G | CA358117284 | FAT4 | c.1141A>G (p.Thr381Ala) c.-55+1575A>G (n.-55+1575A>G) | |
4 | g.125317552A>T | CA358117285 | FAT4 | c.1141A>T (p.Thr381Ser) c.-55+1575A>T (n.-55+1575A>T) | |
4 | g.125317553C>A | CA358117286 | FAT4 | c.1142C>A (p.Thr381Asn) c.-55+1576C>A (n.-55+1576C>A) | |
4 | g.125317553C>G | CA358117287 | FAT4 | c.1142C>G (p.Thr381Ser) c.-55+1576C>G (n.-55+1576C>G) | |
4 | g.125317553C>T | CA358117288 | FAT4 | c.1142C>T (p.Thr381Ile) c.-55+1576C>T (n.-55+1576C>T) | |
4 | g.125317554C>A | CA441366611 | FAT4 | c.1143C>A (p.Thr381=) c.-55+1577C>A (n.-55+1577C>A) | |
4 | g.125317554C= | CA1491600118 | FAT4 | c.1143C= (p.Thr381=) c.-55+1577C= (n.-55+1577C=) | |
4 | g.125317554C>G | CA441366613 | FAT4 | c.1143C>G (p.Thr381=) c.-55+1577C>G (n.-55+1577C>G) | |
4 | g.125317554C>T | CA104861873 | FAT4 | c.1143C>T (p.Thr381=) c.-55+1577C>T (n.-55+1577C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317555G>A | CA3071924 | FAT4 | c.1144G>A (p.Val382Met) c.-55+1578G>A (n.-55+1578G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.125317555G>C | CA358117289 | FAT4 | c.1144G>C (p.Val382Leu) c.-55+1578G>C (n.-55+1578G>C) | |
4 | g.125317555G= | CA1491600122 | FAT4 | c.1144G= (p.Val382=) c.-55+1578G= (n.-55+1578G=) | |
4 | g.125317555G>T | CA358117290 | FAT4 | c.1144G>T (p.Val382Leu) c.-55+1578G>T (n.-55+1578G>T) | |
4 | g.125317556T>A | CA358117291 | FAT4 | c.1145T>A (p.Val382Glu) c.-55+1579T>A (n.-55+1579T>A) | |
4 | g.125317556T>C | CA358117293 | FAT4 | c.1145T>C (p.Val382Ala) c.-55+1579T>C (n.-55+1579T>C) | |
4 | g.125317556T>G | CA358117292 | FAT4 | c.1145T>G (p.Val382Gly) c.-55+1579T>G (n.-55+1579T>G) | |
4 | g.125317557G>A | CA441366619 | FAT4 | c.1146G>A (p.Val382=) c.-55+1580G>A (n.-55+1580G>A) | gnomAD v4 |
4 | g.125317557G>C | CA441366620 | FAT4 | c.1146G>C (p.Val382=) c.-55+1580G>C (n.-55+1580G>C) | |
4 | g.125317557G>T | CA441366621 | FAT4 | c.1146G>T (p.Val382=) c.-55+1580G>T (n.-55+1580G>T) | |
4 | g.125317558A>C | CA358117294 | FAT4 | c.1147A>C (p.Thr383Pro) c.-55+1581A>C (n.-55+1581A>C) | |
4 | g.125317558A>G | CA358117295 | FAT4 | c.1147A>G (p.Thr383Ala) c.-55+1581A>G (n.-55+1581A>G) | |
4 | g.125317558A>T | CA358117296 | FAT4 | c.1147A>T (p.Thr383Ser) c.-55+1581A>T (n.-55+1581A>T) | |
4 | g.125317559C>A | CA358117297 | FAT4 | c.1148C>A (p.Thr383Lys) c.-55+1582C>A (n.-55+1582C>A) | ClinVar gnomAD v4 |
4 | g.125317559C>G | CA358117298 | FAT4 | c.1148C>G (p.Thr383Arg) c.-55+1582C>G (n.-55+1582C>G) | |
4 | g.125317559C>T | CA358117299 | FAT4 | c.1148C>T (p.Thr383Met) c.-55+1582C>T (n.-55+1582C>T) | ClinVar gnomAD v4 |