Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.125317453G>ACA358117071FAT4c.1042G>A (p.Asp348Asn)
c.-55+1476G>A (n.-55+1476G>A)
4g.125317453G>CCA358117072FAT4c.1042G>C (p.Asp348His)
c.-55+1476G>C (n.-55+1476G>C)
4g.125317453G>TCA358117073FAT4c.1042G>T (p.Asp348Tyr)
c.-55+1476G>T (n.-55+1476G>T)
4g.125317454A>CCA358117076FAT4c.1043A>C (p.Asp348Ala)
c.-55+1477A>C (n.-55+1477A>C)
4g.125317454A>GCA358117075FAT4c.1043A>G (p.Asp348Gly)
c.-55+1477A>G (n.-55+1477A>G)
4g.125317454A>TCA358117074FAT4c.1043A>T (p.Asp348Val)
c.-55+1477A>T (n.-55+1477A>T)
 gnomAD v4
4g.125317455C>ACA358117078FAT4c.1044C>A (p.Asp348Glu)
c.-55+1478C>A (n.-55+1478C>A)
 COSMIC COSMIC
4g.125317455C>GCA358117077FAT4c.1044C>G (p.Asp348Glu)
c.-55+1478C>G (n.-55+1478C>G)
4g.125317455C>TCA441366351FAT4c.1044C>T (p.Asp348=)
c.-55+1478C>T (n.-55+1478C>T)
4g.125317456A>CCA358117079FAT4c.1045A>C (p.Asn349His)
c.-55+1479A>C (n.-55+1479A>C)
4g.125317456A>GCA358117080FAT4c.1045A>G (p.Asn349Asp)
c.-55+1479A>G (n.-55+1479A>G)
4g.125317456A>TCA358117081FAT4c.1045A>T (p.Asn349Tyr)
c.-55+1479A>T (n.-55+1479A>T)
4g.125317457A>CCA358117082FAT4c.1046A>C (p.Asn349Thr)
c.-55+1480A>C (n.-55+1480A>C)
4g.125317457A>GCA358117083FAT4c.1046A>G (p.Asn349Ser)
c.-55+1480A>G (n.-55+1480A>G)
 gnomAD v4
4g.125317457A>TCA358117084FAT4c.1046A>T (p.Asn349Ile)
c.-55+1480A>T (n.-55+1480A>T)
4g.125317458T>ACA358117085FAT4c.1047T>A (p.Asn349Lys)
c.-55+1481T>A (n.-55+1481T>A)
4g.125317458T>CCA441366356FAT4c.1047T>C (p.Asn349=)
c.-55+1481T>C (n.-55+1481T>C)
4g.125317458T>GCA358117086FAT4c.1047T>G (p.Asn349Lys)
c.-55+1481T>G (n.-55+1481T>G)
4g.125317459G>ACA358117087FAT4c.1048G>A (p.Asp350Asn)
c.-55+1482G>A (n.-55+1482G>A)
4g.125317459G>CCA358117088FAT4c.1048G>C (p.Asp350His)
c.-55+1482G>C (n.-55+1482G>C)
4g.125317459G>TCA358117089FAT4c.1048G>T (p.Asp350Tyr)
c.-55+1482G>T (n.-55+1482G>T)
4g.125317460A>CCA358117092FAT4c.1049A>C (p.Asp350Ala)
c.-55+1483A>C (n.-55+1483A>C)
4g.125317460A>GCA358117091FAT4c.1049A>G (p.Asp350Gly)
c.-55+1483A>G (n.-55+1483A>G)
4g.125317460A>TCA358117090FAT4c.1049A>T (p.Asp350Val)
c.-55+1483A>T (n.-55+1483A>T)
4g.125317461C>ACA358117093FAT4c.1050C>A (p.Asp350Glu)
c.-55+1484C>A (n.-55+1484C>A)
4g.125317461C=CA1491599892FAT4c.1050C= (p.Asp350=)
c.-55+1484C= (n.-55+1484C=)
4g.125317461C>GCA358117094FAT4c.1050C>G (p.Asp350Glu)
c.-55+1484C>G (n.-55+1484C>G)
4g.125317461C>TCA3071906FAT4c.1050C>T (p.Asp350=)
c.-55+1484C>T (n.-55+1484C>T)
 dbSNP ExAC gnomAD v2
4g.125317462C>ACA358117095FAT4c.1051C>A (p.Pro351Thr)
c.-55+1485C>A (n.-55+1485C>A)
4g.125317462C=CA1491599895FAT4c.1051C= (p.Pro351=)
c.-55+1485C= (n.-55+1485C=)
4g.125317462C>GCA3071907FAT4c.1051C>G (p.Pro351Ala)
c.-55+1485C>G (n.-55+1485C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317462C>TCA358117096FAT4c.1051C>T (p.Pro351Ser)
c.-55+1485C>T (n.-55+1485C>T)
4g.125317463C>ACA358117097FAT4c.1052C>A (p.Pro351Gln)
c.-55+1486C>A (n.-55+1486C>A)
4g.125317463C=CA1491599901FAT4c.1052C= (p.Pro351=)
c.-55+1486C= (n.-55+1486C=)
4g.125317463C>GCA358117098FAT4c.1052C>G (p.Pro351Arg)
c.-55+1486C>G (n.-55+1486C>G)
 dbSNP gnomAD v3 gnomAD v4
4g.125317463C>TCA358117099FAT4c.1052C>T (p.Pro351Leu)
c.-55+1486C>T (n.-55+1486C>T)
 gnomAD v4
4g.125317464G>ACA3071908FAT4c.1053G>A (p.Pro351=)
c.-55+1487G>A (n.-55+1487G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317464G>CCA441366362FAT4c.1053G>C (p.Pro351=)
c.-55+1487G>C (n.-55+1487G>C)
 dbSNP
4g.125317464G=CA1491599908FAT4c.1053G= (p.Pro351=)
c.-55+1487G= (n.-55+1487G=)
4g.125317464G>TCA441366363FAT4c.1053G>T (p.Pro351=)
c.-55+1487G>T (n.-55+1487G>T)
4g.125317465G>ACA3071909FAT4c.1054G>A (p.Val352Ile)
c.-55+1488G>A (n.-55+1488G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317465G>CCA358117100FAT4c.1054G>C (p.Val352Leu)
c.-55+1488G>C (n.-55+1488G>C)
 gnomAD v4
4g.125317465G=CA1491599915FAT4c.1054G= (p.Val352=)
c.-55+1488G= (n.-55+1488G=)
4g.125317465G>TCA358117101FAT4c.1054G>T (p.Val352Leu)
c.-55+1488G>T (n.-55+1488G>T)
4g.125317466T>ACA358117103FAT4c.1055T>A (p.Val352Glu)
c.-55+1489T>A (n.-55+1489T>A)
4g.125317466T>CCA358117104FAT4c.1055T>C (p.Val352Ala)
c.-55+1489T>C (n.-55+1489T>C)
4g.125317466T>GCA358117102FAT4c.1055T>G (p.Val352Gly)
c.-55+1489T>G (n.-55+1489T>G)
4g.125317467A>CCA441366365FAT4c.1056A>C (p.Val352=)
c.-55+1490A>C (n.-55+1490A>C)
4g.125317467A>GCA441366367FAT4c.1056A>G (p.Val352=)
c.-55+1490A>G (n.-55+1490A>G)
 gnomAD v4
4g.125317467A>TCA441366366FAT4c.1056A>T (p.Val352=)
c.-55+1490A>T (n.-55+1490A>T)
4g.125317468G>ACA358117105FAT4c.1057G>A (p.Val353Met)
c.-55+1491G>A (n.-55+1491G>A)
 gnomAD v4
4g.125317468G>CCA358117106FAT4c.1057G>C (p.Val353Leu)
c.-55+1491G>C (n.-55+1491G>C)
4g.125317468G>TCA358117107FAT4c.1057G>T (p.Val353Leu)
c.-55+1491G>T (n.-55+1491G>T)
4g.125317469T>ACA358117108FAT4c.1058T>A (p.Val353Glu)
c.-55+1492T>A (n.-55+1492T>A)
4g.125317469T>CCA3071910FAT4c.1058T>C (p.Val353Ala)
c.-55+1492T>C (n.-55+1492T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317469T>GCA358117109FAT4c.1058T>G (p.Val353Gly)
c.-55+1492T>G (n.-55+1492T>G)
4g.125317469T=CA1491599918FAT4c.1058T= (p.Val353=)
c.-55+1492T= (n.-55+1492T=)
4g.125317470G>ACA441366370FAT4c.1059G>A (p.Val353=)
c.-55+1493G>A (n.-55+1493G>A)
 ClinVar
4g.125317470G>CCA441366372FAT4c.1059G>C (p.Val353=)
c.-55+1493G>C (n.-55+1493G>C)
4g.125317470G>TCA441366373FAT4c.1059G>T (p.Val353=)
c.-55+1493G>T (n.-55+1493G>T)
4g.125317471A>CCA358117112FAT4c.1060A>C (p.Lys354Gln)
c.-55+1494A>C (n.-55+1494A>C)
4g.125317471A>GCA358117111FAT4c.1060A>G (p.Lys354Glu)
c.-55+1494A>G (n.-55+1494A>G)
4g.125317471A>TCA358117110FAT4c.1060A>T (p.Lys354Ter)
c.-55+1494A>T (n.-55+1494A>T)
4g.125317472A>CCA358117113FAT4c.1061A>C (p.Lys354Thr)
c.-55+1495A>C (n.-55+1495A>C)
4g.125317472A>GCA358117114FAT4c.1061A>G (p.Lys354Arg)
c.-55+1495A>G (n.-55+1495A>G)
 gnomAD v4
4g.125317472A>TCA358117115FAT4c.1061A>T (p.Lys354Met)
c.-55+1495A>T (n.-55+1495A>T)
4g.125317473G>ACA3071911FAT4c.1062G>A (p.Lys354=)
c.-55+1496G>A (n.-55+1496G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317473G>CCA358117116FAT4c.1062G>C (p.Lys354Asn)
c.-55+1496G>C (n.-55+1496G>C)
 gnomAD v4
4g.125317473G=CA1491599926FAT4c.1062G= (p.Lys354=)
c.-55+1496G= (n.-55+1496G=)
4g.125317473G>TCA358117117FAT4c.1062G>T (p.Lys354Asn)
c.-55+1496G>T (n.-55+1496G>T)
 gnomAD v4
4g.125317474T>ACA358117118FAT4c.1063T>A (p.Phe355Ile)
c.-55+1497T>A (n.-55+1497T>A)
 ClinVar dbSNP gnomAD v4
4g.125317474T>CCA358117120FAT4c.1063T>C (p.Phe355Leu)
c.-55+1497T>C (n.-55+1497T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317474T>GCA358117119FAT4c.1063T>G (p.Phe355Val)
c.-55+1497T>G (n.-55+1497T>G)
4g.125317474T=CA1491599931FAT4c.1063T= (p.Phe355=)
c.-55+1497T= (n.-55+1497T=)
4g.125317475T>ACA358117121FAT4c.1064T>A (p.Phe355Tyr)
c.-55+1498T>A (n.-55+1498T>A)
4g.125317475T>CCA358117122FAT4c.1064T>C (p.Phe355Ser)
c.-55+1498T>C (n.-55+1498T>C)
4g.125317475T>GCA358117123FAT4c.1064T>G (p.Phe355Cys)
c.-55+1498T>G (n.-55+1498T>G)
4g.125317476C>ACA358117124FAT4c.1065C>A (p.Phe355Leu)
c.-55+1499C>A (n.-55+1499C>A)
4g.125317476C>GCA358117125FAT4c.1065C>G (p.Phe355Leu)
c.-55+1499C>G (n.-55+1499C>G)
4g.125317476C>TCA441366376FAT4c.1065C>T (p.Phe355=)
c.-55+1499C>T (n.-55+1499C>T)
4g.125317477C>ACA358117126FAT4c.1066C>A (p.Arg356Ser)
c.-55+1500C>A (n.-55+1500C>A)
4g.125317477C=CA1491599935FAT4c.1066C= (p.Arg356=)
c.-55+1500C= (n.-55+1500C=)
4g.125317477C>GCA358117127FAT4c.1066C>G (p.Arg356Gly)
c.-55+1500C>G (n.-55+1500C>G)
 gnomAD v4
4g.125317477C>TCA104861787FAT4c.1066C>T (p.Arg356Cys)
c.-55+1500C>T (n.-55+1500C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.125317478G>ACA358117128FAT4c.1067G>A (p.Arg356His)
c.-55+1501G>A (n.-55+1501G>A)
 COSMIC COSMIC
4g.125317478G>CCA358117129FAT4c.1067G>C (p.Arg356Pro)
c.-55+1501G>C (n.-55+1501G>C)
4g.125317478G>TCA358117130FAT4c.1067G>T (p.Arg356Leu)
c.-55+1501G>T (n.-55+1501G>T)
4g.125317479C>ACA441366379FAT4c.1068C>A (p.Arg356=)
c.-55+1502C>A (n.-55+1502C>A)
4g.125317479C>GCA441366380FAT4c.1068C>G (p.Arg356=)
c.-55+1502C>G (n.-55+1502C>G)
4g.125317479C>TCA441366381FAT4c.1068C>T (p.Arg356=)
c.-55+1502C>T (n.-55+1502C>T)
4g.125317480T>ACA358117131FAT4c.1069T>A (p.Tyr357Asn)
c.-55+1503T>A (n.-55+1503T>A)
4g.125317480T>CCA358117133FAT4c.1069T>C (p.Tyr357His)
c.-55+1503T>C (n.-55+1503T>C)
4g.125317480T>GCA358117132FAT4c.1069T>G (p.Tyr357Asp)
c.-55+1503T>G (n.-55+1503T>G)
4g.125317481A>CCA358117134FAT4c.1070A>C (p.Tyr357Ser)
c.-55+1504A>C (n.-55+1504A>C)
4g.125317481A>GCA358117135FAT4c.1070A>G (p.Tyr357Cys)
c.-55+1504A>G (n.-55+1504A>G)
 gnomAD v4
4g.125317481A>TCA358117136FAT4c.1070A>T (p.Tyr357Phe)
c.-55+1504A>T (n.-55+1504A>T)
4g.125317482C>ACA358117137FAT4c.1071C>A (p.Tyr357Ter)
c.-55+1505C>A (n.-55+1505C>A)
4g.125317482C>GCA358117138FAT4c.1071C>G (p.Tyr357Ter)
c.-55+1505C>G (n.-55+1505C>G)
4g.125317482C>TCA441366383FAT4c.1071C>T (p.Tyr357=)
c.-55+1505C>T (n.-55+1505C>T)
 gnomAD v4
4g.125317483T>ACA358117139FAT4c.1072T>A (p.Phe358Ile)
c.-55+1506T>A (n.-55+1506T>A)
4g.125317483T>CCA358117140FAT4c.1072T>C (p.Phe358Leu)
c.-55+1506T>C (n.-55+1506T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.125317483T>GCA358117141FAT4c.1072T>G (p.Phe358Val)
c.-55+1506T>G (n.-55+1506T>G)
4g.125317483T=CA1491599942FAT4c.1072T= (p.Phe358=)
c.-55+1506T= (n.-55+1506T=)
4g.125317484T>ACA3071912FAT4c.1073T>A (p.Phe358Tyr)
c.-55+1507T>A (n.-55+1507T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317484T>CCA358117142FAT4c.1073T>C (p.Phe358Ser)
c.-55+1507T>C (n.-55+1507T>C)
4g.125317484T>GCA358117143FAT4c.1073T>G (p.Phe358Cys)
c.-55+1507T>G (n.-55+1507T>G)
4g.125317484T=CA1491599950FAT4c.1073T= (p.Phe358=)
c.-55+1507T= (n.-55+1507T=)
4g.125317485C>ACA358117144FAT4c.1074C>A (p.Phe358Leu)
c.-55+1508C>A (n.-55+1508C>A)
4g.125317485C=CA1491599954FAT4c.1074C= (p.Phe358=)
c.-55+1508C= (n.-55+1508C=)
4g.125317485C>GCA358117145FAT4c.1074C>G (p.Phe358Leu)
c.-55+1508C>G (n.-55+1508C>G)
 dbSNP
4g.125317485C>TCA441366387FAT4c.1074C>T (p.Phe358=)
c.-55+1508C>T (n.-55+1508C>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317486C>ACA358117146FAT4c.1075C>A (p.Pro359Thr)
c.-55+1509C>A (n.-55+1509C>A)
4g.125317486C>GCA358117148FAT4c.1075C>G (p.Pro359Ala)
c.-55+1509C>G (n.-55+1509C>G)
 gnomAD v4
4g.125317486C>TCA358117147FAT4c.1075C>T (p.Pro359Ser)
c.-55+1509C>T (n.-55+1509C>T)
4g.125317487C>ACA358117149FAT4c.1076C>A (p.Pro359Gln)
c.-55+1510C>A (n.-55+1510C>A)
4g.125317487C=CA1491599963FAT4c.1076C= (p.Pro359=)
c.-55+1510C= (n.-55+1510C=)
4g.125317487C>GCA358117150FAT4c.1076C>G (p.Pro359Arg)
c.-55+1510C>G (n.-55+1510C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317487C>TCA358117151FAT4c.1076C>T (p.Pro359Leu)
c.-55+1510C>T (n.-55+1510C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317488G>ACA441366390FAT4c.1077G>A (p.Pro359=)
c.-55+1511G>A (n.-55+1511G>A)
 ClinVar dbSNP gnomAD v4
4g.125317488G>CCA441366391FAT4c.1077G>C (p.Pro359=)
c.-55+1511G>C (n.-55+1511G>C)
4g.125317488G=CA1491599968FAT4c.1077G= (p.Pro359=)
c.-55+1511G= (n.-55+1511G=)
4g.125317488G>TCA441366392FAT4c.1077G>T (p.Pro359=)
c.-55+1511G>T (n.-55+1511G>T)
4g.125317489G>ACA358117152FAT4c.1078G>A (p.Ala360Thr)
c.-55+1512G>A (n.-55+1512G>A)
4g.125317489G>CCA358117153FAT4c.1078G>C (p.Ala360Pro)
c.-55+1512G>C (n.-55+1512G>C)
 gnomAD v4
4g.125317489G>TCA358117154FAT4c.1078G>T (p.Ala360Ser)
c.-55+1512G>T (n.-55+1512G>T)
4g.125317490C>ACA358117155FAT4c.1079C>A (p.Ala360Asp)
c.-55+1513C>A (n.-55+1513C>A)
4g.125317490C>GCA358117156FAT4c.1079C>G (p.Ala360Gly)
c.-55+1513C>G (n.-55+1513C>G)
4g.125317490C>TCA358117157FAT4c.1079C>T (p.Ala360Val)
c.-55+1513C>T (n.-55+1513C>T)
4g.125317491C>ACA441366396FAT4c.1080C>A (p.Ala360=)
c.-55+1514C>A (n.-55+1514C>A)
4g.125317491C>GCA441366397FAT4c.1080C>G (p.Ala360=)
c.-55+1514C>G (n.-55+1514C>G)
 gnomAD v4
4g.125317491C>TCA441366398FAT4c.1080C>T (p.Ala360=)
c.-55+1514C>T (n.-55+1514C>T)
4g.125317492A>CCA358117160FAT4c.1081A>C (p.Thr361Pro)
c.-55+1515A>C (n.-55+1515A>C)
4g.125317492A>GCA358117159FAT4c.1081A>G (p.Thr361Ala)
c.-55+1515A>G (n.-55+1515A>G)
4g.125317492A>TCA358117158FAT4c.1081A>T (p.Thr361Ser)
c.-55+1515A>T (n.-55+1515A>T)
4g.125317493C>ACA358117161FAT4c.1082C>A (p.Thr361Asn)
c.-55+1516C>A (n.-55+1516C>A)
4g.125317493C>GCA358117163FAT4c.1082C>G (p.Thr361Ser)
c.-55+1516C>G (n.-55+1516C>G)
4g.125317493C>TCA358117162FAT4c.1082C>T (p.Thr361Ile)
c.-55+1516C>T (n.-55+1516C>T)
 dbSNP
4g.125317494C>ACA441366400FAT4c.1083C>A (p.Thr361=)
c.-55+1517C>A (n.-55+1517C>A)
4g.125317494C=CA1491599972FAT4c.1083C= (p.Thr361=)
c.-55+1517C= (n.-55+1517C=)
4g.125317494C>GCA441366401FAT4c.1083C>G (p.Thr361=)
c.-55+1517C>G (n.-55+1517C>G)
 dbSNP gnomAD v4
4g.125317494C>TCA441366402FAT4c.1083C>T (p.Thr361=)
c.-55+1517C>T (n.-55+1517C>T)
4g.125317495T>ACA358117164FAT4c.1084T>A (p.Ser362Thr)
c.-55+1518T>A (n.-55+1518T>A)
4g.125317495T>CCA358117165FAT4c.1084T>C (p.Ser362Pro)
c.-55+1518T>C (n.-55+1518T>C)
 dbSNP gnomAD v4
4g.125317495T>GCA358117166FAT4c.1084T>G (p.Ser362Ala)
c.-55+1518T>G (n.-55+1518T>G)
4g.125317495T=CA1491599977FAT4c.1084T= (p.Ser362=)
c.-55+1518T= (n.-55+1518T=)
4g.125317496C>ACA358117167FAT4c.1085C>A (p.Ser362Ter)
c.-55+1519C>A (n.-55+1519C>A)
4g.125317496C=CA1491599980FAT4c.1085C= (p.Ser362=)
c.-55+1519C= (n.-55+1519C=)
4g.125317496C>GCA358117168FAT4c.1085C>G (p.Ser362Trp)
c.-55+1519C>G (n.-55+1519C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.125317496C>TCA358117169FAT4c.1085C>T (p.Ser362Leu)
c.-55+1519C>T (n.-55+1519C>T)
 gnomAD v4
4g.125317497G>ACA441366479FAT4c.1086G>A (p.Ser362=)
c.-55+1520G>A (n.-55+1520G>A)
4g.125317497G>CCA441366478FAT4c.1086G>C (p.Ser362=)
c.-55+1520G>C (n.-55+1520G>C)
4g.125317497G>TCA441366477FAT4c.1086G>T (p.Ser362=)
c.-55+1520G>T (n.-55+1520G>T)
 ClinVar
4g.125317498C>ACA358117170FAT4c.1087C>A (p.Arg363Ser)
c.-55+1521C>A (n.-55+1521C>A)
4g.125317498C>GCA358117171FAT4c.1087C>G (p.Arg363Gly)
c.-55+1521C>G (n.-55+1521C>G)
4g.125317498C>TCA358117172FAT4c.1087C>T (p.Arg363Cys)
c.-55+1521C>T (n.-55+1521C>T)
 gnomAD v4 COSMIC COSMIC
4g.125317499G>ACA104861795FAT4c.1088G>A (p.Arg363His)
c.-55+1522G>A (n.-55+1522G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317499G>CCA358117173FAT4c.1088G>C (p.Arg363Pro)
c.-55+1522G>C (n.-55+1522G>C)
 gnomAD v4
4g.125317499G=CA1491599983FAT4c.1088G= (p.Arg363=)
c.-55+1522G= (n.-55+1522G=)
4g.125317499G>TCA358117174FAT4c.1088G>T (p.Arg363Leu)
c.-55+1522G>T (n.-55+1522G>T)
4g.125317500C>ACA441366484FAT4c.1089C>A (p.Arg363=)
c.-55+1523C>A (n.-55+1523C>A)
4g.125317500C=CA1491599987FAT4c.1089C= (p.Arg363=)
c.-55+1523C= (n.-55+1523C=)
4g.125317500C>GCA3071913FAT4c.1089C>G (p.Arg363=)
c.-55+1523C>G (n.-55+1523C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317500C>TCA441366487FAT4c.1089C>T (p.Arg363=)
c.-55+1523C>T (n.-55+1523C>T)
4g.125317501T>ACA358117175FAT4c.1090T>A (p.Tyr364Asn)
c.-55+1524T>A (n.-55+1524T>A)
4g.125317501T>CCA358117176FAT4c.1090T>C (p.Tyr364His)
c.-55+1524T>C (n.-55+1524T>C)
4g.125317501T>GCA358117177FAT4c.1090T>G (p.Tyr364Asp)
c.-55+1524T>G (n.-55+1524T>G)
4g.125317502A=CA1491599991FAT4c.1091A= (p.Tyr364=)
c.-55+1525A= (n.-55+1525A=)
4g.125317502A>CCA358117178FAT4c.1091A>C (p.Tyr364Ser)
c.-55+1525A>C (n.-55+1525A>C)
4g.125317502A>GCA3071914FAT4c.1091A>G (p.Tyr364Cys)
c.-55+1525A>G (n.-55+1525A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317502A>TCA358117179FAT4c.1091A>T (p.Tyr364Phe)
c.-55+1525A>T (n.-55+1525A>T)
4g.125317503C>ACA358117180FAT4c.1092C>A (p.Tyr364Ter)
c.-55+1526C>A (n.-55+1526C>A)
4g.125317503C=CA1491599994FAT4c.1092C= (p.Tyr364=)
c.-55+1526C= (n.-55+1526C=)
4g.125317503C>GCA358117181FAT4c.1092C>G (p.Tyr364Ter)
c.-55+1526C>G (n.-55+1526C>G)
4g.125317503C>TCA441366493FAT4c.1092C>T (p.Tyr364=)
c.-55+1526C>T (n.-55+1526C>T)
 ClinVar dbSNP gnomAD v4
4g.125317504G>ACA358117182FAT4c.1093G>A (p.Ala365Thr)
c.-55+1527G>A (n.-55+1527G>A)
4g.125317504G>CCA358117183FAT4c.1093G>C (p.Ala365Pro)
c.-55+1527G>C (n.-55+1527G>C)
4g.125317504G>TCA358117184FAT4c.1093G>T (p.Ala365Ser)
c.-55+1527G>T (n.-55+1527G>T)
 gnomAD v4
4g.125317505C>ACA358117185FAT4c.1094C>A (p.Ala365Asp)
c.-55+1528C>A (n.-55+1528C>A)
4g.125317505C>GCA358117186FAT4c.1094C>G (p.Ala365Gly)
c.-55+1528C>G (n.-55+1528C>G)
4g.125317505C>TCA358117187FAT4c.1094C>T (p.Ala365Val)
c.-55+1528C>T (n.-55+1528C>T)
4g.125317506C>ACA441366499FAT4c.1095C>A (p.Ala365=)
c.-55+1529C>A (n.-55+1529C>A)
 ClinVar dbSNP gnomAD v4
4g.125317506C>GCA441366501FAT4c.1095C>G (p.Ala365=)
c.-55+1529C>G (n.-55+1529C>G)
4g.125317506C>TCA441366502FAT4c.1095C>T (p.Ala365=)
c.-55+1529C>T (n.-55+1529C>T)
4g.125317507T>ACA358117190FAT4c.1096T>A (p.Ser366Thr)
c.-55+1530T>A (n.-55+1530T>A)
4g.125317507T>CCA358117188FAT4c.1096T>C (p.Ser366Pro)
c.-55+1530T>C (n.-55+1530T>C)
4g.125317507T>GCA358117189FAT4c.1096T>G (p.Ser366Ala)
c.-55+1530T>G (n.-55+1530T>G)
4g.125317508C>ACA358117191FAT4c.1097C>A (p.Ser366Ter)
c.-55+1531C>A (n.-55+1531C>A)
4g.125317508C>GCA358117192FAT4c.1097C>G (p.Ser366Trp)
c.-55+1531C>G (n.-55+1531C>G)
 gnomAD v4
4g.125317508C>TCA358117193FAT4c.1097C>T (p.Ser366Leu)
c.-55+1531C>T (n.-55+1531C>T)
 gnomAD v4
4g.125317509G>ACA3071915FAT4c.1098G>A (p.Ser366=)
c.-55+1532G>A (n.-55+1532G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.125317509G>CCA441366508FAT4c.1098G>C (p.Ser366=)
c.-55+1532G>C (n.-55+1532G>C)
 gnomAD v4
4g.125317509G=CA1491600000FAT4c.1098G= (p.Ser366=)
c.-55+1532G= (n.-55+1532G=)
4g.125317509G>TCA441366509FAT4c.1098G>T (p.Ser366=)
c.-55+1532G>T (n.-55+1532G>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317509_125317514dupCA2672009308FAT4c.1098_1103dup (p.Val367_Asp368insGluVal)
c.-55+1532_-55+1537dup (n.-55+1532_-55+1537dup)
 gnomAD v4
4g.125317510G>ACA3071916FAT4c.1099G>A (p.Val367Ile)
c.-55+1533G>A (n.-55+1533G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317510G>CCA358117194FAT4c.1099G>C (p.Val367Leu)
c.-55+1533G>C (n.-55+1533G>C)
 gnomAD v4
4g.125317510G=CA1491600011FAT4c.1099G= (p.Val367=)
c.-55+1533G= (n.-55+1533G=)
4g.125317510G>TCA358117195FAT4c.1099G>T (p.Val367Leu)
c.-55+1533G>T (n.-55+1533G>T)
4g.125317511T>ACA358117196FAT4c.1100T>A (p.Val367Glu)
c.-55+1534T>A (n.-55+1534T>A)
4g.125317511T>CCA358117198FAT4c.1100T>C (p.Val367Ala)
c.-55+1534T>C (n.-55+1534T>C)
4g.125317511T>GCA358117197FAT4c.1100T>G (p.Val367Gly)
c.-55+1534T>G (n.-55+1534T>G)
4g.125317512A=CA1491600024FAT4c.1101A= (p.Val367=)
c.-55+1535A= (n.-55+1535A=)
4g.125317512A>CCA441366516FAT4c.1101A>C (p.Val367=)
c.-55+1535A>C (n.-55+1535A>C)
4g.125317512A>GCA3071917FAT4c.1101A>G (p.Val367=)
c.-55+1535A>G (n.-55+1535A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317512A>TCA441366519FAT4c.1101A>T (p.Val367=)
c.-55+1535A>T (n.-55+1535A>T)
4g.125317513G>ACA358117199FAT4c.1102G>A (p.Asp368Asn)
c.-55+1536G>A (n.-55+1536G>A)
4g.125317513G>CCA358117200FAT4c.1102G>C (p.Asp368His)
c.-55+1536G>C (n.-55+1536G>C)
4g.125317513G>TCA358117201FAT4c.1102G>T (p.Asp368Tyr)
c.-55+1536G>T (n.-55+1536G>T)
4g.125317514A=CA1491600028FAT4c.1103A= (p.Asp368=)
c.-55+1537A= (n.-55+1537A=)
4g.125317514A>CCA358117202FAT4c.1103A>C (p.Asp368Ala)
c.-55+1537A>C (n.-55+1537A>C)
 dbSNP
4g.125317514A>GCA358117204FAT4c.1103A>G (p.Asp368Gly)
c.-55+1537A>G (n.-55+1537A>G)
 gnomAD v4
4g.125317514A>TCA358117203FAT4c.1103A>T (p.Asp368Val)
c.-55+1537A>T (n.-55+1537A>T)
4g.125317515T>ACA358117205FAT4c.1104T>A (p.Asp368Glu)
c.-55+1538T>A (n.-55+1538T>A)
4g.125317515T>CCA3071918FAT4c.1104T>C (p.Asp368=)
c.-55+1538T>C (n.-55+1538T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317515T>GCA358117206FAT4c.1104T>G (p.Asp368Glu)
c.-55+1538T>G (n.-55+1538T>G)
 gnomAD v4
4g.125317515T=CA1491600036FAT4c.1104T= (p.Asp368=)
c.-55+1538T= (n.-55+1538T=)
4g.125317516G>ACA358117207FAT4c.1105G>A (p.Glu369Lys)
c.-55+1539G>A (n.-55+1539G>A)
4g.125317516G>CCA358117208FAT4c.1105G>C (p.Glu369Gln)
c.-55+1539G>C (n.-55+1539G>C)
4g.125317516G>TCA358117209FAT4c.1105G>T (p.Glu369Ter)
c.-55+1539G>T (n.-55+1539G>T)
4g.125317517A>CCA358117210FAT4c.1106A>C (p.Glu369Ala)
c.-55+1540A>C (n.-55+1540A>C)
4g.125317517A>GCA358117211FAT4c.1106A>G (p.Glu369Gly)
c.-55+1540A>G (n.-55+1540A>G)
4g.125317517A>TCA358117212FAT4c.1106A>T (p.Glu369Val)
c.-55+1540A>T (n.-55+1540A>T)
4g.125317518G>ACA441366528FAT4c.1107G>A (p.Glu369=)
c.-55+1541G>A (n.-55+1541G>A)
 ClinVar dbSNP
4g.125317518G>CCA358117213FAT4c.1107G>C (p.Glu369Asp)
c.-55+1541G>C (n.-55+1541G>C)
4g.125317518G=CA1491600045FAT4c.1107G= (p.Glu369=)
c.-55+1541G= (n.-55+1541G=)
4g.125317518G>TCA358117214FAT4c.1107G>T (p.Glu369Asp)
c.-55+1541G>T (n.-55+1541G>T)
4g.125317519A>CCA358117215FAT4c.1108A>C (p.Asn370His)
c.-55+1542A>C (n.-55+1542A>C)
4g.125317519A>GCA358117217FAT4c.1108A>G (p.Asn370Asp)
c.-55+1542A>G (n.-55+1542A>G)
4g.125317519A>TCA358117216FAT4c.1108A>T (p.Asn370Tyr)
c.-55+1542A>T (n.-55+1542A>T)
4g.125317520A>CCA358117218FAT4c.1109A>C (p.Asn370Thr)
c.-55+1543A>C (n.-55+1543A>C)
4g.125317520A>GCA358117219FAT4c.1109A>G (p.Asn370Ser)
c.-55+1543A>G (n.-55+1543A>G)
4g.125317520A>TCA358117220FAT4c.1109A>T (p.Asn370Ile)
c.-55+1543A>T (n.-55+1543A>T)
4g.125317521T>ACA358117221FAT4c.1110T>A (p.Asn370Lys)
c.-55+1544T>A (n.-55+1544T>A)
4g.125317521T>CCA441366533FAT4c.1110T>C (p.Asn370=)
c.-55+1544T>C (n.-55+1544T>C)
4g.125317521T>GCA358117222FAT4c.1110T>G (p.Asn370Lys)
c.-55+1544T>G (n.-55+1544T>G)
4g.125317522G>ACA358117225FAT4c.1111G>A (p.Ala371Thr)
c.-55+1545G>A (n.-55+1545G>A)
 dbSNP
4g.125317522G>CCA358117224FAT4c.1111G>C (p.Ala371Pro)
c.-55+1545G>C (n.-55+1545G>C)
4g.125317522G=CA1491600052FAT4c.1111G= (p.Ala371=)
c.-55+1545G= (n.-55+1545G=)
4g.125317522G>TCA358117223FAT4c.1111G>T (p.Ala371Ser)
c.-55+1545G>T (n.-55+1545G>T)
4g.125317523C>ACA358117226FAT4c.1112C>A (p.Ala371Asp)
c.-55+1546C>A (n.-55+1546C>A)
4g.125317523C>GCA358117227FAT4c.1112C>G (p.Ala371Gly)
c.-55+1546C>G (n.-55+1546C>G)
4g.125317523C>TCA358117228FAT4c.1112C>T (p.Ala371Val)
c.-55+1546C>T (n.-55+1546C>T)
4g.125317524T>ACA441366540FAT4c.1113T>A (p.Ala371=)
c.-55+1547T>A (n.-55+1547T>A)
4g.125317524T>CCA441366542FAT4c.1113T>C (p.Ala371=)
c.-55+1547T>C (n.-55+1547T>C)
4g.125317524T>GCA441366541FAT4c.1113T>G (p.Ala371=)
c.-55+1547T>G (n.-55+1547T>G)
4g.125317525C>ACA358117229FAT4c.1114C>A (p.Gln372Lys)
c.-55+1548C>A (n.-55+1548C>A)
4g.125317525C>GCA358117230FAT4c.1114C>G (p.Gln372Glu)
c.-55+1548C>G (n.-55+1548C>G)
 gnomAD v4
4g.125317525C>TCA358117231FAT4c.1114C>T (p.Gln372Ter)
c.-55+1548C>T (n.-55+1548C>T)
4g.125317526A=CA1491600057FAT4c.1115A= (p.Gln372=)
c.-55+1549A= (n.-55+1549A=)
4g.125317526A>CCA358117234FAT4c.1115A>C (p.Gln372Pro)
c.-55+1549A>C (n.-55+1549A>C)
4g.125317526A>GCA358117232FAT4c.1115A>G (p.Gln372Arg)
c.-55+1549A>G (n.-55+1549A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317526A>TCA358117233FAT4c.1115A>T (p.Gln372Leu)
c.-55+1549A>T (n.-55+1549A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.125317527A>CCA358117235FAT4c.1116A>C (p.Gln372His)
c.-55+1550A>C (n.-55+1550A>C)
4g.125317527A>GCA441366550FAT4c.1116A>G (p.Gln372=)
c.-55+1550A>G (n.-55+1550A>G)
 ClinVar gnomAD v4
4g.125317527A>TCA358117236FAT4c.1116A>T (p.Gln372His)
c.-55+1550A>T (n.-55+1550A>T)
4g.125317528G>ACA358117237FAT4c.1117G>A (p.Val373Met)
c.-55+1551G>A (n.-55+1551G>A)
4g.125317528G>CCA358117238FAT4c.1117G>C (p.Val373Leu)
c.-55+1551G>C (n.-55+1551G>C)
4g.125317528G>TCA358117239FAT4c.1117G>T (p.Val373Leu)
c.-55+1551G>T (n.-55+1551G>T)
4g.125317529T>ACA358117240FAT4c.1118T>A (p.Val373Glu)
c.-55+1552T>A (n.-55+1552T>A)
4g.125317529T>CCA358117241FAT4c.1118T>C (p.Val373Ala)
c.-55+1552T>C (n.-55+1552T>C)
4g.125317529T>GCA358117242FAT4c.1118T>G (p.Val373Gly)
c.-55+1552T>G (n.-55+1552T>G)
4g.125317530G>ACA441366554FAT4c.1119G>A (p.Val373=)
c.-55+1553G>A (n.-55+1553G>A)
4g.125317530G>CCA441366555FAT4c.1119G>C (p.Val373=)
c.-55+1553G>C (n.-55+1553G>C)
4g.125317530G=CA1491600064FAT4c.1119G= (p.Val373=)
c.-55+1553G= (n.-55+1553G=)
4g.125317530G>TCA3071919FAT4c.1119G>T (p.Val373=)
c.-55+1553G>T (n.-55+1553G>T)
 dbSNP ExAC gnomAD v2
4g.125317531G>ACA358117243FAT4c.1120G>A (p.Gly374Ser)
c.-55+1554G>A (n.-55+1554G>A)
 gnomAD v4
4g.125317531G>CCA358117244FAT4c.1120G>C (p.Gly374Arg)
c.-55+1554G>C (n.-55+1554G>C)
4g.125317531G>TCA358117245FAT4c.1120G>T (p.Gly374Cys)
c.-55+1554G>T (n.-55+1554G>T)
4g.125317532G>ACA358117246FAT4c.1121G>A (p.Gly374Asp)
c.-55+1555G>A (n.-55+1555G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317532G>CCA358117248FAT4c.1121G>C (p.Gly374Ala)
c.-55+1555G>C (n.-55+1555G>C)
4g.125317532G=CA1491600070FAT4c.1121G= (p.Gly374=)
c.-55+1555G= (n.-55+1555G=)
4g.125317532G>TCA358117247FAT4c.1121G>T (p.Gly374Val)
c.-55+1555G>T (n.-55+1555G>T)
4g.125317533C>ACA441366562FAT4c.1122C>A (p.Gly374=)
c.-55+1556C>A (n.-55+1556C>A)
4g.125317533C=CA1491600073FAT4c.1122C= (p.Gly374=)
c.-55+1556C= (n.-55+1556C=)
4g.125317533C>GCA441366564FAT4c.1122C>G (p.Gly374=)
c.-55+1556C>G (n.-55+1556C>G)
4g.125317533C>TCA3071920FAT4c.1122C>T (p.Gly374=)
c.-55+1556C>T (n.-55+1556C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317534A=CA1491600081FAT4c.1123A= (p.Thr375=)
c.-55+1557A= (n.-55+1557A=)
4g.125317534A>CCA358117249FAT4c.1123A>C (p.Thr375Pro)
c.-55+1557A>C (n.-55+1557A>C)
4g.125317534A>GCA358117250FAT4c.1123A>G (p.Thr375Ala)
c.-55+1557A>G (n.-55+1557A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317534A>TCA358117251FAT4c.1123A>T (p.Thr375Ser)
c.-55+1557A>T (n.-55+1557A>T)
4g.125317535C>ACA358117252FAT4c.1124C>A (p.Thr375Asn)
c.-55+1558C>A (n.-55+1558C>A)
4g.125317535C=CA1491600086FAT4c.1124C= (p.Thr375=)
c.-55+1558C= (n.-55+1558C=)
4g.125317535C>GCA358117253FAT4c.1124C>G (p.Thr375Ser)
c.-55+1558C>G (n.-55+1558C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.125317535C>TCA358117254FAT4c.1124C>T (p.Thr375Ile)
c.-55+1558C>T (n.-55+1558C>T)
4g.125317536C>ACA441366572FAT4c.1125C>A (p.Thr375=)
c.-55+1559C>A (n.-55+1559C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.125317536C=CA1491600091FAT4c.1125C= (p.Thr375=)
c.-55+1559C= (n.-55+1559C=)
4g.125317536C>GCA441366573FAT4c.1125C>G (p.Thr375=)
c.-55+1559C>G (n.-55+1559C>G)
4g.125317536C>TCA104861845FAT4c.1125C>T (p.Thr375=)
c.-55+1559C>T (n.-55+1559C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.125317537G>ACA3071921FAT4c.1126G>A (p.Val376Met)
c.-55+1560G>A (n.-55+1560G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.125317537G>CCA358117255FAT4c.1126G>C (p.Val376Leu)
c.-55+1560G>C (n.-55+1560G>C)
 dbSNP gnomAD v4
4g.125317537G=CA1491600097FAT4c.1126G= (p.Val376=)
c.-55+1560G= (n.-55+1560G=)
4g.125317537G>TCA358117256FAT4c.1126G>T (p.Val376Leu)
c.-55+1560G>T (n.-55+1560G>T)
4g.125317538T>ACA358117257FAT4c.1127T>A (p.Val376Glu)
c.-55+1561T>A (n.-55+1561T>A)
4g.125317538T>CCA358117258FAT4c.1127T>C (p.Val376Ala)
c.-55+1561T>C (n.-55+1561T>C)
4g.125317538T>GCA358117259FAT4c.1127T>G (p.Val376Gly)
c.-55+1561T>G (n.-55+1561T>G)
4g.125317539G>ACA3071922FAT4c.1128G>A (p.Val376=)
c.-55+1562G>A (n.-55+1562G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.125317539G>CCA441366578FAT4c.1128G>C (p.Val376=)
c.-55+1562G>C (n.-55+1562G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.125317539G=CA1491600100FAT4c.1128G= (p.Val376=)
c.-55+1562G= (n.-55+1562G=)
4g.125317539G>TCA441366576FAT4c.1128G>T (p.Val376=)
c.-55+1562G>T (n.-55+1562G>T)
4g.125317540G>ACA358117260FAT4c.1129G>A (p.Val377Met)
c.-55+1563G>A (n.-55+1563G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.125317540G>CCA358117261FAT4c.1129G>C (p.Val377Leu)
c.-55+1563G>C (n.-55+1563G>C)
4g.125317540G=CA1491600108FAT4c.1129G= (p.Val377=)
c.-55+1563G= (n.-55+1563G=)
4g.125317540G>TCA358117262FAT4c.1129G>T (p.Val377Leu)
c.-55+1563G>T (n.-55+1563G>T)
4g.125317541T>ACA358117263FAT4c.1130T>A (p.Val377Glu)
c.-55+1564T>A (n.-55+1564T>A)
4g.125317541T>CCA358117264FAT4c.1130T>C (p.Val377Ala)
c.-55+1564T>C (n.-55+1564T>C)
4g.125317541T>GCA358117265FAT4c.1130T>G (p.Val377Gly)
c.-55+1564T>G (n.-55+1564T>G)
 gnomAD v4
4g.125317542G>ACA441366582FAT4c.1131G>A (p.Val377=)
c.-55+1565G>A (n.-55+1565G>A)
4g.125317542G>CCA441366584FAT4c.1131G>C (p.Val377=)
c.-55+1565G>C (n.-55+1565G>C)
 dbSNP
4g.125317542G=CA1491600112FAT4c.1131G= (p.Val377=)
c.-55+1565G= (n.-55+1565G=)
4g.125317542G>TCA441366583FAT4c.1131G>T (p.Val377=)
c.-55+1565G>T (n.-55+1565G>T)
4g.125317543G>ACA358117266FAT4c.1132G>A (p.Ala378Thr)
c.-55+1566G>A (n.-55+1566G>A)
4g.125317543G>CCA358117267FAT4c.1132G>C (p.Ala378Pro)
c.-55+1566G>C (n.-55+1566G>C)
4g.125317543G>TCA358117268FAT4c.1132G>T (p.Ala378Ser)
c.-55+1566G>T (n.-55+1566G>T)
4g.125317544C>ACA358117269FAT4c.1133C>A (p.Ala378Asp)
c.-55+1567C>A (n.-55+1567C>A)
4g.125317544C>GCA358117270FAT4c.1133C>G (p.Ala378Gly)
c.-55+1567C>G (n.-55+1567C>G)
4g.125317544C>TCA358117271FAT4c.1133C>T (p.Ala378Val)
c.-55+1567C>T (n.-55+1567C>T)
4g.125317545T>ACA441366590FAT4c.1134T>A (p.Ala378=)
c.-55+1568T>A (n.-55+1568T>A)
4g.125317545T>CCA441366592FAT4c.1134T>C (p.Ala378=)
c.-55+1568T>C (n.-55+1568T>C)
4g.125317545T>GCA441366593FAT4c.1134T>G (p.Ala378=)
c.-55+1568T>G (n.-55+1568T>G)
4g.125317546C>ACA358117273FAT4c.1135C>A (p.Leu379Met)
c.-55+1569C>A (n.-55+1569C>A)
 gnomAD v4
4g.125317546C>GCA358117272FAT4c.1135C>G (p.Leu379Val)
c.-55+1569C>G (n.-55+1569C>G)
4g.125317546C>TCA441366595FAT4c.1135C>T (p.Leu379=)
c.-55+1569C>T (n.-55+1569C>T)
4g.125317547T>ACA358117274FAT4c.1136T>A (p.Leu379Gln)
c.-55+1570T>A (n.-55+1570T>A)
4g.125317547T>CCA358117276FAT4c.1136T>C (p.Leu379Pro)
c.-55+1570T>C (n.-55+1570T>C)
4g.125317547T>GCA358117275FAT4c.1136T>G (p.Leu379Arg)
c.-55+1570T>G (n.-55+1570T>G)
4g.125317548G>ACA3071923FAT4c.1137G>A (p.Leu379=)
c.-55+1571G>A (n.-55+1571G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.125317548G>CCA441366599FAT4c.1137G>C (p.Leu379=)
c.-55+1571G>C (n.-55+1571G>C)
 gnomAD v4
4g.125317548G=CA1491600115FAT4c.1137G= (p.Leu379=)
c.-55+1571G= (n.-55+1571G=)
4g.125317548G>TCA441366600FAT4c.1137G>T (p.Leu379=)
c.-55+1571G>T (n.-55+1571G>T)
4g.125317549C>ACA358117278FAT4c.1138C>A (p.Leu380Ile)
c.-55+1572C>A (n.-55+1572C>A)
4g.125317549C>GCA358117277FAT4c.1138C>G (p.Leu380Val)
c.-55+1572C>G (n.-55+1572C>G)
4g.125317549C>TCA358117279FAT4c.1138C>T (p.Leu380Phe)
c.-55+1572C>T (n.-55+1572C>T)
 gnomAD v4
4g.125317550T>ACA358117280FAT4c.1139T>A (p.Leu380His)
c.-55+1573T>A (n.-55+1573T>A)
4g.125317550T>CCA358117281FAT4c.1139T>C (p.Leu380Pro)
c.-55+1573T>C (n.-55+1573T>C)
4g.125317550T>GCA358117282FAT4c.1139T>G (p.Leu380Arg)
c.-55+1573T>G (n.-55+1573T>G)
4g.125317551C>ACA441366606FAT4c.1140C>A (p.Leu380=)
c.-55+1574C>A (n.-55+1574C>A)
 gnomAD v4
4g.125317551C>GCA441366605FAT4c.1140C>G (p.Leu380=)
c.-55+1574C>G (n.-55+1574C>G)
4g.125317551C>TCA441366604FAT4c.1140C>T (p.Leu380=)
c.-55+1574C>T (n.-55+1574C>T)
 gnomAD v4
4g.125317552A>CCA358117283FAT4c.1141A>C (p.Thr381Pro)
c.-55+1575A>C (n.-55+1575A>C)
4g.125317552A>GCA358117284FAT4c.1141A>G (p.Thr381Ala)
c.-55+1575A>G (n.-55+1575A>G)
4g.125317552A>TCA358117285FAT4c.1141A>T (p.Thr381Ser)
c.-55+1575A>T (n.-55+1575A>T)
4g.125317553C>ACA358117286FAT4c.1142C>A (p.Thr381Asn)
c.-55+1576C>A (n.-55+1576C>A)
4g.125317553C>GCA358117287FAT4c.1142C>G (p.Thr381Ser)
c.-55+1576C>G (n.-55+1576C>G)
4g.125317553C>TCA358117288FAT4c.1142C>T (p.Thr381Ile)
c.-55+1576C>T (n.-55+1576C>T)

Number of alleles fetched