Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128332957A>C | CA360754905 | FBN2 | n.961T>G n.1042T>G c.4177T>G (p.Cys1393Gly) c.727T>G (p.Cys243Gly) c.4078T>G (p.Cys1360Gly) c.4174T>G (p.Cys1392Gly) c.4024T>G (p.Cys1342Gly) | |
5 | g.128332957A>G | CA360754900 | FBN2 | n.961T>C n.1042T>C c.4177T>C (p.Cys1393Arg) c.727T>C (p.Cys243Arg) c.4078T>C (p.Cys1360Arg) c.4174T>C (p.Cys1392Arg) c.4024T>C (p.Cys1342Arg) | ClinVar |
5 | g.128332957A>T | CA360754902 | FBN2 | n.961T>A n.1042T>A c.4177T>A (p.Cys1393Ser) c.727T>A (p.Cys243Ser) c.4078T>A (p.Cys1360Ser) c.4174T>A (p.Cys1392Ser) c.4024T>A (p.Cys1342Ser) | |
5 | g.128332958C>A | CA360754909 | FBN2 | n.960G>T n.1041G>T c.4176G>T (p.Lys1392Asn) c.726G>T (p.Lys242Asn) c.4077G>T (p.Lys1359Asn) c.4173G>T (p.Lys1391Asn) c.4023G>T (p.Lys1341Asn) | |
5 | g.128332958C= | CA1581268392 | FBN2 | n.960G= n.1041G= c.4176G= (p.Lys1392=) c.726G= (p.Lys242=) c.4077G= (p.Lys1359=) c.4173G= (p.Lys1391=) c.4023G= (p.Lys1341=) | |
5 | g.128332958C>G | CA360754911 | FBN2 | n.960G>C n.1041G>C c.4176G>C (p.Lys1392Asn) c.726G>C (p.Lys242Asn) c.4077G>C (p.Lys1359Asn) c.4173G>C (p.Lys1391Asn) c.4023G>C (p.Lys1341Asn) | dbSNP gnomAD v2 |
5 | g.128332958C>T | CA3395044 | FBN2 | n.960G>A n.1041G>A c.4176G>A (p.Lys1392=) c.726G>A (p.Lys242=) c.4077G>A (p.Lys1359=) c.4173G>A (p.Lys1391=) c.4023G>A (p.Lys1341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128332959T>A | CA360754919 | FBN2 | n.959A>T n.1040A>T c.4175A>T (p.Lys1392Met) c.725A>T (p.Lys242Met) c.4076A>T (p.Lys1359Met) c.4172A>T (p.Lys1391Met) c.4022A>T (p.Lys1341Met) | |
5 | g.128332959T>C | CA360754921 | FBN2 | n.959A>G n.1040A>G c.4175A>G (p.Lys1392Arg) c.725A>G (p.Lys242Arg) c.4076A>G (p.Lys1359Arg) c.4172A>G (p.Lys1391Arg) c.4022A>G (p.Lys1341Arg) | gnomAD v4 |
5 | g.128332959T>G | CA360754923 | FBN2 | n.959A>C n.1040A>C c.4175A>C (p.Lys1392Thr) c.725A>C (p.Lys242Thr) c.4076A>C (p.Lys1359Thr) c.4172A>C (p.Lys1391Thr) c.4022A>C (p.Lys1341Thr) | |
5 | g.128332960T>A | CA360754927 | FBN2 | n.958A>T n.1039A>T c.4174A>T (p.Lys1392Ter) c.724A>T (p.Lys242Ter) c.4075A>T (p.Lys1359Ter) c.4171A>T (p.Lys1391Ter) c.4021A>T (p.Lys1341Ter) | |
5 | g.128332960T>C | CA360754940 | FBN2 | n.958A>G n.1039A>G c.4174A>G (p.Lys1392Glu) c.724A>G (p.Lys242Glu) c.4075A>G (p.Lys1359Glu) c.4171A>G (p.Lys1391Glu) c.4021A>G (p.Lys1341Glu) | |
5 | g.128332960T>G | CA360754943 | FBN2 | n.958A>C n.1039A>C c.4174A>C (p.Lys1392Gln) c.724A>C (p.Lys242Gln) c.4075A>C (p.Lys1359Gln) c.4171A>C (p.Lys1391Gln) c.4021A>C (p.Lys1341Gln) | dbSNP |
5 | g.128332960T= | CA1581268393 | FBN2 | n.958A= n.1039A= c.4174A= (p.Lys1392=) c.724A= (p.Lys242=) c.4075A= (p.Lys1359=) c.4171A= (p.Lys1391=) c.4021A= (p.Lys1341=) | |
5 | g.128332961G>A | CA446309483 | FBN2 | n.957C>T n.1038C>T c.4173C>T (p.Phe1391=) c.723C>T (p.Phe241=) c.4074C>T (p.Phe1358=) c.4170C>T (p.Phe1390=) c.4020C>T (p.Phe1340=) | |
5 | g.128332961G>C | CA360754949 | FBN2 | n.957C>G n.1038C>G c.4173C>G (p.Phe1391Leu) c.723C>G (p.Phe241Leu) c.4074C>G (p.Phe1358Leu) c.4170C>G (p.Phe1390Leu) c.4020C>G (p.Phe1340Leu) | |
5 | g.128332961G>T | CA360754950 | FBN2 | n.957C>A n.1038C>A c.4173C>A (p.Phe1391Leu) c.723C>A (p.Phe241Leu) c.4074C>A (p.Phe1358Leu) c.4170C>A (p.Phe1390Leu) c.4020C>A (p.Phe1340Leu) | |
5 | g.128332962A>C | CA360754951 | FBN2 | n.956T>G n.1037T>G c.4172T>G (p.Phe1391Cys) c.722T>G (p.Phe241Cys) c.4073T>G (p.Phe1358Cys) c.4169T>G (p.Phe1390Cys) c.4019T>G (p.Phe1340Cys) | |
5 | g.128332962A>G | CA360754953 | FBN2 | n.956T>C n.1037T>C c.4172T>C (p.Phe1391Ser) c.722T>C (p.Phe241Ser) c.4073T>C (p.Phe1358Ser) c.4169T>C (p.Phe1390Ser) c.4019T>C (p.Phe1340Ser) | |
5 | g.128332962A>T | CA360754952 | FBN2 | n.956T>A n.1037T>A c.4172T>A (p.Phe1391Tyr) c.722T>A (p.Phe241Tyr) c.4073T>A (p.Phe1358Tyr) c.4169T>A (p.Phe1390Tyr) c.4019T>A (p.Phe1340Tyr) | |
5 | g.128332963A>C | CA360754955 | FBN2 | n.955T>G n.1036T>G c.4171T>G (p.Phe1391Val) c.721T>G (p.Phe241Val) c.4072T>G (p.Phe1358Val) c.4168T>G (p.Phe1390Val) c.4018T>G (p.Phe1340Val) | |
5 | g.128332963A>G | CA360754956 | FBN2 | n.955T>C n.1036T>C c.4171T>C (p.Phe1391Leu) c.721T>C (p.Phe241Leu) c.4072T>C (p.Phe1358Leu) c.4168T>C (p.Phe1390Leu) c.4018T>C (p.Phe1340Leu) | |
5 | g.128332963A>T | CA360754957 | FBN2 | n.955T>A n.1036T>A c.4171T>A (p.Phe1391Ile) c.721T>A (p.Phe241Ile) c.4072T>A (p.Phe1358Ile) c.4168T>A (p.Phe1390Ile) c.4018T>A (p.Phe1340Ile) | |
5 | g.128332964G>A | CA446309491 | FBN2 | n.954C>T n.1035C>T c.4170C>T (p.Ser1390=) c.720C>T (p.Ser240=) c.4071C>T (p.Ser1357=) c.4167C>T (p.Ser1389=) c.4017C>T (p.Ser1339=) | |
5 | g.128332964G>C | CA360754958 | FBN2 | n.954C>G n.1035C>G c.4170C>G (p.Ser1390Arg) c.720C>G (p.Ser240Arg) c.4071C>G (p.Ser1357Arg) c.4167C>G (p.Ser1389Arg) c.4017C>G (p.Ser1339Arg) | |
5 | g.128332964G>T | CA360754960 | FBN2 | n.954C>A n.1035C>A c.4170C>A (p.Ser1390Arg) c.720C>A (p.Ser240Arg) c.4071C>A (p.Ser1357Arg) c.4167C>A (p.Ser1389Arg) c.4017C>A (p.Ser1339Arg) | |
5 | g.128332965C>A | CA360754961 | FBN2 | n.953G>T n.1034G>T c.4169G>T (p.Ser1390Ile) c.719G>T (p.Ser240Ile) c.4070G>T (p.Ser1357Ile) c.4166G>T (p.Ser1389Ile) c.4016G>T (p.Ser1339Ile) | |
5 | g.128332965C= | CA1581268394 | FBN2 | n.953G= n.1034G= c.4169G= (p.Ser1390=) c.719G= (p.Ser240=) c.4070G= (p.Ser1357=) c.4166G= (p.Ser1389=) c.4016G= (p.Ser1339=) | |
5 | g.128332965C>G | CA360754963 | FBN2 | n.953G>C n.1034G>C c.4169G>C (p.Ser1390Thr) c.719G>C (p.Ser240Thr) c.4070G>C (p.Ser1357Thr) c.4166G>C (p.Ser1389Thr) c.4016G>C (p.Ser1339Thr) | |
5 | g.128332965C>T | CA127006989 | FBN2 | n.953G>A n.1034G>A c.4169G>A (p.Ser1390Asn) c.719G>A (p.Ser240Asn) c.4070G>A (p.Ser1357Asn) c.4166G>A (p.Ser1389Asn) c.4016G>A (p.Ser1339Asn) | dbSNP gnomAD v4 |
5 | g.128332966T>A | CA360754967 | FBN2 | n.952A>T n.1033A>T c.4168A>T (p.Ser1390Cys) c.718A>T (p.Ser240Cys) c.4069A>T (p.Ser1357Cys) c.4165A>T (p.Ser1389Cys) c.4015A>T (p.Ser1339Cys) | |
5 | g.128332966T>C | CA360754968 | FBN2 | n.952A>G n.1033A>G c.4168A>G (p.Ser1390Gly) c.718A>G (p.Ser240Gly) c.4069A>G (p.Ser1357Gly) c.4165A>G (p.Ser1389Gly) c.4015A>G (p.Ser1339Gly) | |
5 | g.128332966T>G | CA360754971 | FBN2 | n.952A>C n.1033A>C c.4168A>C (p.Ser1390Arg) c.718A>C (p.Ser240Arg) c.4069A>C (p.Ser1357Arg) c.4165A>C (p.Ser1389Arg) c.4015A>C (p.Ser1339Arg) | |
5 | g.128332967T>A | CA446309498 | FBN2 | n.951A>T n.1032A>T c.4167A>T (p.Gly1389=) c.717A>T (p.Gly239=) c.4068A>T (p.Gly1356=) c.4164A>T (p.Gly1388=) c.4014A>T (p.Gly1338=) | |
5 | g.128332967T>C | CA446309499 | FBN2 | n.951A>G n.1032A>G c.4167A>G (p.Gly1389=) c.717A>G (p.Gly239=) c.4068A>G (p.Gly1356=) c.4164A>G (p.Gly1388=) c.4014A>G (p.Gly1338=) | |
5 | g.128332967T>G | CA446309500 | FBN2 | n.951A>C n.1032A>C c.4167A>C (p.Gly1389=) c.717A>C (p.Gly239=) c.4068A>C (p.Gly1356=) c.4164A>C (p.Gly1388=) c.4014A>C (p.Gly1338=) | |
5 | g.128332968C>A | CA360754977 | FBN2 | n.950G>T n.1031G>T c.4166G>T (p.Gly1389Val) c.716G>T (p.Gly239Val) c.4067G>T (p.Gly1356Val) c.4163G>T (p.Gly1388Val) c.4013G>T (p.Gly1338Val) | |
5 | g.128332968C>G | CA360754974 | FBN2 | n.950G>C n.1031G>C c.4166G>C (p.Gly1389Ala) c.716G>C (p.Gly239Ala) c.4067G>C (p.Gly1356Ala) c.4163G>C (p.Gly1388Ala) c.4013G>C (p.Gly1338Ala) | |
5 | g.128332968C>T | CA360754976 | FBN2 | n.950G>A n.1031G>A c.4166G>A (p.Gly1389Glu) c.716G>A (p.Gly239Glu) c.4067G>A (p.Gly1356Glu) c.4163G>A (p.Gly1388Glu) c.4013G>A (p.Gly1338Glu) | gnomAD v4 |
5 | g.128332969C>A | CA360754978 | FBN2 | n.949G>T n.1030G>T c.4165G>T (p.Gly1389Ter) c.715G>T (p.Gly239Ter) c.4066G>T (p.Gly1356Ter) c.4162G>T (p.Gly1388Ter) c.4012G>T (p.Gly1338Ter) | COSMIC COSMIC |
5 | g.128332969C>G | CA360754981 | FBN2 | n.949G>C n.1030G>C c.4165G>C (p.Gly1389Arg) c.715G>C (p.Gly239Arg) c.4066G>C (p.Gly1356Arg) c.4162G>C (p.Gly1388Arg) c.4012G>C (p.Gly1338Arg) | |
5 | g.128332969C>T | CA360754990 | FBN2 | n.949G>A n.1030G>A c.4165G>A (p.Gly1389Arg) c.715G>A (p.Gly239Arg) c.4066G>A (p.Gly1356Arg) c.4162G>A (p.Gly1388Arg) c.4012G>A (p.Gly1338Arg) | |
5 | g.128332970T>A | CA446309507 | FBN2 | n.948A>T n.1029A>T c.4164A>T (p.Pro1388=) c.714A>T (p.Pro238=) c.4065A>T (p.Pro1355=) c.4161A>T (p.Pro1387=) c.4011A>T (p.Pro1337=) | |
5 | g.128332970T>C | CA446309508 | FBN2 | n.948A>G n.1029A>G c.4164A>G (p.Pro1388=) c.714A>G (p.Pro238=) c.4065A>G (p.Pro1355=) c.4161A>G (p.Pro1387=) c.4011A>G (p.Pro1337=) | ClinVar gnomAD v4 |
5 | g.128332970T>G | CA446309505 | FBN2 | n.948A>C n.1029A>C c.4164A>C (p.Pro1388=) c.714A>C (p.Pro238=) c.4065A>C (p.Pro1355=) c.4161A>C (p.Pro1387=) c.4011A>C (p.Pro1337=) | |
5 | g.128332971G>A | CA360754995 | FBN2 | n.947C>T n.1028C>T c.4163C>T (p.Pro1388Leu) c.713C>T (p.Pro238Leu) c.4064C>T (p.Pro1355Leu) c.4160C>T (p.Pro1387Leu) c.4010C>T (p.Pro1337Leu) | dbSNP |
5 | g.128332971G>C | CA360755009 | FBN2 | n.947C>G n.1028C>G c.4163C>G (p.Pro1388Arg) c.713C>G (p.Pro238Arg) c.4064C>G (p.Pro1355Arg) c.4160C>G (p.Pro1387Arg) c.4010C>G (p.Pro1337Arg) | |
5 | g.128332971G= | CA1581268395 | FBN2 | n.947C= n.1028C= c.4163C= (p.Pro1388=) c.713C= (p.Pro238=) c.4064C= (p.Pro1355=) c.4160C= (p.Pro1387=) c.4010C= (p.Pro1337=) | |
5 | g.128332971G>T | CA360755013 | FBN2 | n.947C>A n.1028C>A c.4163C>A (p.Pro1388Gln) c.713C>A (p.Pro238Gln) c.4064C>A (p.Pro1355Gln) c.4160C>A (p.Pro1387Gln) c.4010C>A (p.Pro1337Gln) | |
5 | g.128332972G>A | CA360755014 | FBN2 | n.946C>T n.1027C>T c.4162C>T (p.Pro1388Ser) c.712C>T (p.Pro238Ser) c.4063C>T (p.Pro1355Ser) c.4159C>T (p.Pro1387Ser) c.4009C>T (p.Pro1337Ser) | COSMIC COSMIC |
5 | g.128332972G>C | CA360755015 | FBN2 | n.946C>G n.1027C>G c.4162C>G (p.Pro1388Ala) c.712C>G (p.Pro238Ala) c.4063C>G (p.Pro1355Ala) c.4159C>G (p.Pro1387Ala) c.4009C>G (p.Pro1337Ala) | |
5 | g.128332972G>T | CA360755018 | FBN2 | n.946C>A n.1027C>A c.4162C>A (p.Pro1388Thr) c.712C>A (p.Pro238Thr) c.4063C>A (p.Pro1355Thr) c.4159C>A (p.Pro1387Thr) c.4009C>A (p.Pro1337Thr) | |
5 | g.128332973G>A | CA127006990 | FBN2 | n.945C>T n.1026C>T c.4161C>T (p.Ile1387=) c.711C>T (p.Ile237=) c.4062C>T (p.Ile1354=) c.4158C>T (p.Ile1386=) c.4008C>T (p.Ile1336=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128332973G>C | CA360755023 | FBN2 | n.945C>G n.1026C>G c.4161C>G (p.Ile1387Met) c.711C>G (p.Ile237Met) c.4062C>G (p.Ile1354Met) c.4158C>G (p.Ile1386Met) c.4008C>G (p.Ile1336Met) | |
5 | g.128332973G= | CA1581268396 | FBN2 | n.945C= n.1026C= c.4161C= (p.Ile1387=) c.711C= (p.Ile237=) c.4062C= (p.Ile1354=) c.4158C= (p.Ile1386=) c.4008C= (p.Ile1336=) | |
5 | g.128332973G>T | CA446309510 | FBN2 | n.945C>A n.1026C>A c.4161C>A (p.Ile1387=) c.711C>A (p.Ile237=) c.4062C>A (p.Ile1354=) c.4158C>A (p.Ile1386=) c.4008C>A (p.Ile1336=) | |
5 | g.128332974A>C | CA360755032 | FBN2 | n.944T>G n.1025T>G c.4160T>G (p.Ile1387Ser) c.710T>G (p.Ile237Ser) c.4061T>G (p.Ile1354Ser) c.4157T>G (p.Ile1386Ser) c.4007T>G (p.Ile1336Ser) | |
5 | g.128332974A>G | CA360755036 | FBN2 | n.944T>C n.1025T>C c.4160T>C (p.Ile1387Thr) c.710T>C (p.Ile237Thr) c.4061T>C (p.Ile1354Thr) c.4157T>C (p.Ile1386Thr) c.4007T>C (p.Ile1336Thr) | |
5 | g.128332974A>T | CA360755028 | FBN2 | n.944T>A n.1025T>A c.4160T>A (p.Ile1387Asn) c.710T>A (p.Ile237Asn) c.4061T>A (p.Ile1354Asn) c.4157T>A (p.Ile1386Asn) c.4007T>A (p.Ile1336Asn) | |
5 | g.128332975T>A | CA360755049 | FBN2 | n.943A>T n.1024A>T c.4159A>T (p.Ile1387Phe) c.709A>T (p.Ile237Phe) c.4060A>T (p.Ile1354Phe) c.4156A>T (p.Ile1386Phe) c.4006A>T (p.Ile1336Phe) | |
5 | g.128332975T>C | CA360755041 | FBN2 | n.943A>G n.1024A>G c.4159A>G (p.Ile1387Val) c.709A>G (p.Ile237Val) c.4060A>G (p.Ile1354Val) c.4156A>G (p.Ile1386Val) c.4006A>G (p.Ile1336Val) | dbSNP |
5 | g.128332975T>G | CA360755046 | FBN2 | n.943A>C n.1024A>C c.4159A>C (p.Ile1387Leu) c.709A>C (p.Ile237Leu) c.4060A>C (p.Ile1354Leu) c.4156A>C (p.Ile1386Leu) c.4006A>C (p.Ile1336Leu) | |
5 | g.128332975T= | CA1581268397 | FBN2 | n.943A= n.1024A= c.4159A= (p.Ile1387=) c.709A= (p.Ile237=) c.4060A= (p.Ile1354=) c.4156A= (p.Ile1386=) c.4006A= (p.Ile1336=) | |
5 | g.128332976A>C | CA360755050 | FBN2 | n.942T>G n.1023T>G c.4158T>G (p.Asn1386Lys) c.708T>G (p.Asn236Lys) c.4059T>G (p.Asn1353Lys) c.4155T>G (p.Asn1385Lys) c.4005T>G (p.Asn1335Lys) | |
5 | g.128332976A>G | CA446309517 | FBN2 | n.942T>C n.1023T>C c.4158T>C (p.Asn1386=) c.708T>C (p.Asn236=) c.4059T>C (p.Asn1353=) c.4155T>C (p.Asn1385=) c.4005T>C (p.Asn1335=) | |
5 | g.128332976A>T | CA360755051 | FBN2 | n.942T>A n.1023T>A c.4158T>A (p.Asn1386Lys) c.708T>A (p.Asn236Lys) c.4059T>A (p.Asn1353Lys) c.4155T>A (p.Asn1385Lys) c.4005T>A (p.Asn1335Lys) | |
5 | g.128332977T>A | CA360755052 | FBN2 | n.941A>T n.1022A>T c.4157A>T (p.Asn1386Ile) c.707A>T (p.Asn236Ile) c.4058A>T (p.Asn1353Ile) c.4154A>T (p.Asn1385Ile) c.4004A>T (p.Asn1335Ile) | |
5 | g.128332977T>C | CA360755054 | FBN2 | n.941A>G n.1022A>G c.4157A>G (p.Asn1386Ser) c.707A>G (p.Asn236Ser) c.4058A>G (p.Asn1353Ser) c.4154A>G (p.Asn1385Ser) c.4004A>G (p.Asn1335Ser) | ClinVar |
5 | g.128332977T>G | CA360755056 | FBN2 | n.941A>C n.1022A>C c.4157A>C (p.Asn1386Thr) c.707A>C (p.Asn236Thr) c.4058A>C (p.Asn1353Thr) c.4154A>C (p.Asn1385Thr) c.4004A>C (p.Asn1335Thr) | ClinVar gnomAD v4 |
5 | g.128332978T>A | CA360755063 | FBN2 | n.940A>T n.1021A>T c.4156A>T (p.Asn1386Tyr) c.706A>T (p.Asn236Tyr) c.4057A>T (p.Asn1353Tyr) c.4153A>T (p.Asn1385Tyr) c.4003A>T (p.Asn1335Tyr) | |
5 | g.128332978T>C | CA360755068 | FBN2 | n.940A>G n.1021A>G c.4156A>G (p.Asn1386Asp) c.706A>G (p.Asn236Asp) c.4057A>G (p.Asn1353Asp) c.4153A>G (p.Asn1385Asp) c.4003A>G (p.Asn1335Asp) | |
5 | g.128332978T>G | CA360755084 | FBN2 | n.940A>C n.1021A>C c.4156A>C (p.Asn1386His) c.706A>C (p.Asn236His) c.4057A>C (p.Asn1353His) c.4153A>C (p.Asn1385His) c.4003A>C (p.Asn1335His) | |
5 | g.128332979C>A | CA446309520 | FBN2 | n.939G>T n.1020G>T c.4155G>T (p.Leu1385=) c.705G>T (p.Leu235=) c.4056G>T (p.Leu1352=) c.4152G>T (p.Leu1384=) c.4002G>T (p.Leu1334=) | |
5 | g.128332979C>G | CA446309521 | FBN2 | n.939G>C n.1020G>C c.4155G>C (p.Leu1385=) c.705G>C (p.Leu235=) c.4056G>C (p.Leu1352=) c.4152G>C (p.Leu1384=) c.4002G>C (p.Leu1334=) | |
5 | g.128332979C>T | CA446309522 | FBN2 | n.939G>A n.1020G>A c.4155G>A (p.Leu1385=) c.705G>A (p.Leu235=) c.4056G>A (p.Leu1352=) c.4152G>A (p.Leu1384=) c.4002G>A (p.Leu1334=) | |
5 | g.128332980A= | CA1581268398 | FBN2 | n.938T= n.1019T= c.4154T= (p.Leu1385=) c.704T= (p.Leu235=) c.4055T= (p.Leu1352=) c.4151T= (p.Leu1384=) c.4001T= (p.Leu1334=) | |
5 | g.128332980A>C | CA360755089 | FBN2 | n.938T>G n.1019T>G c.4154T>G (p.Leu1385Arg) c.704T>G (p.Leu235Arg) c.4055T>G (p.Leu1352Arg) c.4151T>G (p.Leu1384Arg) c.4001T>G (p.Leu1334Arg) | |
5 | g.128332980A>G | CA360755091 | FBN2 | n.938T>C n.1019T>C c.4154T>C (p.Leu1385Pro) c.704T>C (p.Leu235Pro) c.4055T>C (p.Leu1352Pro) c.4151T>C (p.Leu1384Pro) c.4001T>C (p.Leu1334Pro) | ClinVar dbSNP |
5 | g.128332980A>T | CA360755095 | FBN2 | n.938T>A n.1019T>A c.4154T>A (p.Leu1385Gln) c.704T>A (p.Leu235Gln) c.4055T>A (p.Leu1352Gln) c.4151T>A (p.Leu1384Gln) c.4001T>A (p.Leu1334Gln) | |
5 | g.128332981G>A | CA446309523 | FBN2 | n.937C>T n.1018C>T c.4153C>T (p.Leu1385=) c.703C>T (p.Leu235=) c.4054C>T (p.Leu1352=) c.4150C>T (p.Leu1384=) c.4000C>T (p.Leu1334=) | |
5 | g.128332981G>C | CA360755101 | FBN2 | n.937C>G n.1018C>G c.4153C>G (p.Leu1385Val) c.703C>G (p.Leu235Val) c.4054C>G (p.Leu1352Val) c.4150C>G (p.Leu1384Val) c.4000C>G (p.Leu1334Val) | gnomAD v3 gnomAD v4 |
5 | g.128332981G>T | CA360755098 | FBN2 | n.937C>A n.1018C>A c.4153C>A (p.Leu1385Met) c.703C>A (p.Leu235Met) c.4054C>A (p.Leu1352Met) c.4150C>A (p.Leu1384Met) c.4000C>A (p.Leu1334Met) | COSMIC COSMIC |
5 | g.128332982A>C | CA360755121 | FBN2 | n.936T>G n.1017T>G c.4152T>G (p.Cys1384Trp) c.702T>G (p.Cys234Trp) c.4053T>G (p.Cys1351Trp) c.4149T>G (p.Cys1383Trp) c.3999T>G (p.Cys1333Trp) | |
5 | g.128332982A>G | CA446309524 | FBN2 | n.936T>C n.1017T>C c.4152T>C (p.Cys1384=) c.702T>C (p.Cys234=) c.4053T>C (p.Cys1351=) c.4149T>C (p.Cys1383=) c.3999T>C (p.Cys1333=) | |
5 | g.128332982A>T | CA360755123 | FBN2 | n.936T>A n.1017T>A c.4152T>A (p.Cys1384Ter) c.702T>A (p.Cys234Ter) c.4053T>A (p.Cys1351Ter) c.4149T>A (p.Cys1383Ter) c.3999T>A (p.Cys1333Ter) | |
5 | g.128332983C>A | CA360755124 | FBN2 | n.935G>T n.1016G>T c.4151G>T (p.Cys1384Phe) c.701G>T (p.Cys234Phe) c.4052G>T (p.Cys1351Phe) c.4148G>T (p.Cys1383Phe) c.3998G>T (p.Cys1333Phe) | |
5 | g.128332983C= | CA1581268399 | FBN2 | n.935G= n.1016G= c.4151G= (p.Cys1384=) c.701G= (p.Cys234=) c.4052G= (p.Cys1351=) c.4148G= (p.Cys1383=) c.3998G= (p.Cys1333=) | |
5 | g.128332983C>G | CA360755128 | FBN2 | n.935G>C n.1016G>C c.4151G>C (p.Cys1384Ser) c.701G>C (p.Cys234Ser) c.4052G>C (p.Cys1351Ser) c.4148G>C (p.Cys1383Ser) c.3998G>C (p.Cys1333Ser) | |
5 | g.128332983C>T | CA244152 | FBN2 | n.935G>A n.1016G>A c.4151G>A (p.Cys1384Tyr) c.701G>A (p.Cys234Tyr) c.4052G>A (p.Cys1351Tyr) c.4148G>A (p.Cys1383Tyr) c.3998G>A (p.Cys1333Tyr) | ClinVar dbSNP |
5 | g.128332984A>C | CA360755131 | FBN2 | n.934T>G n.1015T>G c.4150T>G (p.Cys1384Gly) c.700T>G (p.Cys234Gly) c.4051T>G (p.Cys1351Gly) c.4147T>G (p.Cys1383Gly) c.3997T>G (p.Cys1333Gly) | |
5 | g.128332984A>G | CA360755133 | FBN2 | n.934T>C n.1015T>C c.4150T>C (p.Cys1384Arg) c.700T>C (p.Cys234Arg) c.4051T>C (p.Cys1351Arg) c.4147T>C (p.Cys1383Arg) c.3997T>C (p.Cys1333Arg) | |
5 | g.128332984A>T | CA360755136 | FBN2 | n.934T>A n.1015T>A c.4150T>A (p.Cys1384Ser) c.700T>A (p.Cys234Ser) c.4051T>A (p.Cys1351Ser) c.4147T>A (p.Cys1383Ser) c.3997T>A (p.Cys1333Ser) | |
5 | g.128332985T>A | CA446309525 | FBN2 | n.933A>T n.1014A>T c.4149A>T (p.Ser1383=) c.699A>T (p.Ser233=) c.4050A>T (p.Ser1350=) c.4146A>T (p.Ser1382=) c.3996A>T (p.Ser1332=) | |
5 | g.128332985T>C | CA3395045 | FBN2 | n.933A>G n.1014A>G c.4149A>G (p.Ser1383=) c.699A>G (p.Ser233=) c.4050A>G (p.Ser1350=) c.4146A>G (p.Ser1382=) c.3996A>G (p.Ser1332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332985T>G | CA446309526 | FBN2 | n.933A>C n.1014A>C c.4149A>C (p.Ser1383=) c.699A>C (p.Ser233=) c.4050A>C (p.Ser1350=) c.4146A>C (p.Ser1382=) c.3996A>C (p.Ser1332=) | dbSNP |
5 | g.128332985T= | CA1581268400 | FBN2 | n.933A= n.1014A= c.4149A= (p.Ser1383=) c.699A= (p.Ser233=) c.4050A= (p.Ser1350=) c.4146A= (p.Ser1382=) c.3996A= (p.Ser1332=) | |
5 | g.128332986G>A | CA3395046 | FBN2 | n.932C>T n.1013C>T c.4148C>T (p.Ser1383Leu) c.698C>T (p.Ser233Leu) c.4049C>T (p.Ser1350Leu) c.4145C>T (p.Ser1382Leu) c.3995C>T (p.Ser1332Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128332986G>C | CA360755147 | FBN2 | n.932C>G n.1013C>G c.4148C>G (p.Ser1383Ter) c.698C>G (p.Ser233Ter) c.4049C>G (p.Ser1350Ter) c.4145C>G (p.Ser1382Ter) c.3995C>G (p.Ser1332Ter) | |
5 | g.128332986G= | CA1581268401 | FBN2 | n.932C= n.1013C= c.4148C= (p.Ser1383=) c.698C= (p.Ser233=) c.4049C= (p.Ser1350=) c.4145C= (p.Ser1382=) c.3995C= (p.Ser1332=) | |
5 | g.128332986G>T | CA360755148 | FBN2 | n.932C>A n.1013C>A c.4148C>A (p.Ser1383Ter) c.698C>A (p.Ser233Ter) c.4049C>A (p.Ser1350Ter) c.4145C>A (p.Ser1382Ter) c.3995C>A (p.Ser1332Ter) | |
5 | g.128332987A= | CA1581268402 | FBN2 | n.931T= n.1012T= c.4147T= (p.Ser1383=) c.697T= (p.Ser233=) c.4048T= (p.Ser1350=) c.4144T= (p.Ser1382=) c.3994T= (p.Ser1332=) | |
5 | g.128332987A>C | CA360755154 | FBN2 | n.931T>G n.1012T>G c.4147T>G (p.Ser1383Ala) c.697T>G (p.Ser233Ala) c.4048T>G (p.Ser1350Ala) c.4144T>G (p.Ser1382Ala) c.3994T>G (p.Ser1332Ala) | |
5 | g.128332987A>G | CA127006994 | FBN2 | n.931T>C n.1012T>C c.4147T>C (p.Ser1383Pro) c.697T>C (p.Ser233Pro) c.4048T>C (p.Ser1350Pro) c.4144T>C (p.Ser1382Pro) c.3994T>C (p.Ser1332Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128332987A>T | CA360755150 | FBN2 | n.931T>A n.1012T>A c.4147T>A (p.Ser1383Thr) c.697T>A (p.Ser233Thr) c.4048T>A (p.Ser1350Thr) c.4144T>A (p.Ser1382Thr) c.3994T>A (p.Ser1332Thr) | |
5 | g.128332988G>A | CA446309527 | FBN2 | n.930C>T n.1011C>T c.4146C>T (p.Ala1382=) c.696C>T (p.Ala232=) c.4047C>T (p.Ala1349=) c.4143C>T (p.Ala1381=) c.3993C>T (p.Ala1331=) | gnomAD v4 |
5 | g.128332988G>C | CA446309528 | FBN2 | n.930C>G n.1011C>G c.4146C>G (p.Ala1382=) c.696C>G (p.Ala232=) c.4047C>G (p.Ala1349=) c.4143C>G (p.Ala1381=) c.3993C>G (p.Ala1331=) | gnomAD v4 |
5 | g.128332988G>T | CA446309529 | FBN2 | n.930C>A n.1011C>A c.4146C>A (p.Ala1382=) c.696C>A (p.Ala232=) c.4047C>A (p.Ala1349=) c.4143C>A (p.Ala1381=) c.3993C>A (p.Ala1331=) | |
5 | g.128332989G>A | CA360755160 | FBN2 | n.929C>T n.1010C>T c.4145C>T (p.Ala1382Val) c.695C>T (p.Ala232Val) c.4046C>T (p.Ala1349Val) c.4142C>T (p.Ala1381Val) c.3992C>T (p.Ala1331Val) | gnomAD v4 |
5 | g.128332989G>C | CA360755171 | FBN2 | n.929C>G n.1010C>G c.4145C>G (p.Ala1382Gly) c.695C>G (p.Ala232Gly) c.4046C>G (p.Ala1349Gly) c.4142C>G (p.Ala1381Gly) c.3992C>G (p.Ala1331Gly) | |
5 | g.128332989G>T | CA360755175 | FBN2 | n.929C>A n.1010C>A c.4145C>A (p.Ala1382Asp) c.695C>A (p.Ala232Asp) c.4046C>A (p.Ala1349Asp) c.4142C>A (p.Ala1381Asp) c.3992C>A (p.Ala1331Asp) | |
5 | g.128332990C>A | CA360755182 | FBN2 | n.928G>T n.1009G>T c.4144G>T (p.Ala1382Ser) c.694G>T (p.Ala232Ser) c.4045G>T (p.Ala1349Ser) c.4141G>T (p.Ala1381Ser) c.3991G>T (p.Ala1331Ser) | |
5 | g.128332990C>G | CA360755185 | FBN2 | n.928G>C n.1009G>C c.4144G>C (p.Ala1382Pro) c.694G>C (p.Ala232Pro) c.4045G>C (p.Ala1349Pro) c.4141G>C (p.Ala1381Pro) c.3991G>C (p.Ala1331Pro) | |
5 | g.128332990C>T | CA360755186 | FBN2 | n.928G>A n.1009G>A c.4144G>A (p.Ala1382Thr) c.694G>A (p.Ala232Thr) c.4045G>A (p.Ala1349Thr) c.4141G>A (p.Ala1381Thr) c.3991G>A (p.Ala1331Thr) | |
5 | g.128332991A>C | CA360755188 | FBN2 | n.927T>G n.1008T>G c.4143T>G (p.His1381Gln) c.693T>G (p.His231Gln) c.4044T>G (p.His1348Gln) c.4140T>G (p.His1380Gln) c.3990T>G (p.His1330Gln) | |
5 | g.128332991A>G | CA446309530 | FBN2 | n.927T>C n.1008T>C c.4143T>C (p.His1381=) c.693T>C (p.His231=) c.4044T>C (p.His1348=) c.4140T>C (p.His1380=) c.3990T>C (p.His1330=) | ClinVar |
5 | g.128332991A>T | CA360755187 | FBN2 | n.927T>A n.1008T>A c.4143T>A (p.His1381Gln) c.693T>A (p.His231Gln) c.4044T>A (p.His1348Gln) c.4140T>A (p.His1380Gln) c.3990T>A (p.His1330Gln) | |
5 | g.128332992T>A | CA360755191 | FBN2 | n.926A>T n.1007A>T c.4142A>T (p.His1381Leu) c.692A>T (p.His231Leu) c.4043A>T (p.His1348Leu) c.4139A>T (p.His1380Leu) c.3989A>T (p.His1330Leu) | |
5 | g.128332992T>C | CA360755199 | FBN2 | n.926A>G n.1007A>G c.4142A>G (p.His1381Arg) c.692A>G (p.His231Arg) c.4043A>G (p.His1348Arg) c.4139A>G (p.His1380Arg) c.3989A>G (p.His1330Arg) | dbSNP |
5 | g.128332992T>G | CA360755206 | FBN2 | n.926A>C n.1007A>C c.4142A>C (p.His1381Pro) c.692A>C (p.His231Pro) c.4043A>C (p.His1348Pro) c.4139A>C (p.His1380Pro) c.3989A>C (p.His1330Pro) | |
5 | g.128332992T= | CA1581268403 | FBN2 | n.926A= n.1007A= c.4142A= (p.His1381=) c.692A= (p.His231=) c.4043A= (p.His1348=) c.4139A= (p.His1380=) c.3989A= (p.His1330=) | |
5 | g.128332993G>A | CA360755210 | FBN2 | n.925C>T n.1006C>T c.4141C>T (p.His1381Tyr) c.691C>T (p.His231Tyr) c.4042C>T (p.His1348Tyr) c.4138C>T (p.His1380Tyr) c.3988C>T (p.His1330Tyr) | gnomAD v4 |
5 | g.128332993G>C | CA360755211 | FBN2 | n.925C>G n.1006C>G c.4141C>G (p.His1381Asp) c.691C>G (p.His231Asp) c.4042C>G (p.His1348Asp) c.4138C>G (p.His1380Asp) c.3988C>G (p.His1330Asp) | |
5 | g.128332993G= | CA1581268404 | FBN2 | n.925C= n.1006C= c.4141C= (p.His1381=) c.691C= (p.His231=) c.4042C= (p.His1348=) c.4138C= (p.His1380=) c.3988C= (p.His1330=) | |
5 | g.128332993G>T | CA319740 | FBN2 | n.925C>A n.1006C>A c.4141C>A (p.His1381Asn) c.691C>A (p.His231Asn) c.4042C>A (p.His1348Asn) c.4138C>A (p.His1380Asn) c.3988C>A (p.His1330Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332994C>A | CA360755212 | FBN2 | n.924G>T n.1005G>T c.4140G>T (p.Met1380Ile) c.690G>T (p.Met230Ile) c.4041G>T (p.Met1347Ile) c.4137G>T (p.Met1379Ile) c.3987G>T (p.Met1329Ile) | COSMIC COSMIC |
5 | g.128332994C= | CA1581268405 | FBN2 | n.924G= n.1005G= c.4140G= (p.Met1380=) c.690G= (p.Met230=) c.4041G= (p.Met1347=) c.4137G= (p.Met1379=) c.3987G= (p.Met1329=) | |
5 | g.128332994C>G | CA360755216 | FBN2 | n.924G>C n.1005G>C c.4140G>C (p.Met1380Ile) c.690G>C (p.Met230Ile) c.4041G>C (p.Met1347Ile) c.4137G>C (p.Met1379Ile) c.3987G>C (p.Met1329Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.128332994C>T | CA360755213 | FBN2 | n.924G>A n.1005G>A c.4140G>A (p.Met1380Ile) c.690G>A (p.Met230Ile) c.4041G>A (p.Met1347Ile) c.4137G>A (p.Met1379Ile) c.3987G>A (p.Met1329Ile) | dbSNP COSMIC COSMIC |
5 | g.128332995A>C | CA360755221 | FBN2 | n.923T>G n.1004T>G c.4139T>G (p.Met1380Arg) c.689T>G (p.Met230Arg) c.4040T>G (p.Met1347Arg) c.4136T>G (p.Met1379Arg) c.3986T>G (p.Met1329Arg) | |
5 | g.128332995A>G | CA360755224 | FBN2 | n.923T>C n.1004T>C c.4139T>C (p.Met1380Thr) c.689T>C (p.Met230Thr) c.4040T>C (p.Met1347Thr) c.4136T>C (p.Met1379Thr) c.3986T>C (p.Met1329Thr) | |
5 | g.128332995A>T | CA360755227 | FBN2 | n.923T>A n.1004T>A c.4139T>A (p.Met1380Lys) c.689T>A (p.Met230Lys) c.4040T>A (p.Met1347Lys) c.4136T>A (p.Met1379Lys) c.3986T>A (p.Met1329Lys) | COSMIC COSMIC |
5 | g.128332996T>A | CA360755229 | FBN2 | n.922A>T n.1003A>T c.4138A>T (p.Met1380Leu) c.688A>T (p.Met230Leu) c.4039A>T (p.Met1347Leu) c.4135A>T (p.Met1379Leu) c.3985A>T (p.Met1329Leu) | |
5 | g.128332996T>C | CA360755230 | FBN2 | n.922A>G n.1003A>G c.4138A>G (p.Met1380Val) c.688A>G (p.Met230Val) c.4039A>G (p.Met1347Val) c.4135A>G (p.Met1379Val) c.3985A>G (p.Met1329Val) | |
5 | g.128332996T>G | CA360755233 | FBN2 | n.922A>C n.1003A>C c.4138A>C (p.Met1380Leu) c.688A>C (p.Met230Leu) c.4039A>C (p.Met1347Leu) c.4135A>C (p.Met1379Leu) c.3985A>C (p.Met1329Leu) | |
5 | g.128332997G>A | CA446309531 | FBN2 | n.921C>T n.1002C>T c.4137C>T (p.Asp1379=) c.687C>T (p.Asp229=) c.4038C>T (p.Asp1346=) c.4134C>T (p.Asp1378=) c.3984C>T (p.Asp1328=) | gnomAD v4 |
5 | g.128332997G>C | CA360755237 | FBN2 | n.921C>G n.1002C>G c.4137C>G (p.Asp1379Glu) c.687C>G (p.Asp229Glu) c.4038C>G (p.Asp1346Glu) c.4134C>G (p.Asp1378Glu) c.3984C>G (p.Asp1328Glu) | |
5 | g.128332997G>T | CA360755241 | FBN2 | n.921C>A n.1002C>A c.4137C>A (p.Asp1379Glu) c.687C>A (p.Asp229Glu) c.4038C>A (p.Asp1346Glu) c.4134C>A (p.Asp1378Glu) c.3984C>A (p.Asp1328Glu) | |
5 | g.128332998T>A | CA360755247 | FBN2 | n.920A>T n.1001A>T c.4136A>T (p.Asp1379Val) c.686A>T (p.Asp229Val) c.4037A>T (p.Asp1346Val) c.4133A>T (p.Asp1378Val) c.3983A>T (p.Asp1328Val) | |
5 | g.128332998T>C | CA360755250 | FBN2 | n.920A>G n.1001A>G c.4136A>G (p.Asp1379Gly) c.686A>G (p.Asp229Gly) c.4037A>G (p.Asp1346Gly) c.4133A>G (p.Asp1378Gly) c.3983A>G (p.Asp1328Gly) | |
5 | g.128332998T>G | CA360755254 | FBN2 | n.920A>C n.1001A>C c.4136A>C (p.Asp1379Ala) c.686A>C (p.Asp229Ala) c.4037A>C (p.Asp1346Ala) c.4133A>C (p.Asp1378Ala) c.3983A>C (p.Asp1328Ala) | |
5 | g.128332999C>A | CA360755262 | FBN2 | n.919G>T n.1000G>T c.4135G>T (p.Asp1379Tyr) c.685G>T (p.Asp229Tyr) c.4036G>T (p.Asp1346Tyr) c.4132G>T (p.Asp1378Tyr) c.3982G>T (p.Asp1328Tyr) | gnomAD v4 COSMIC COSMIC |
5 | g.128332999C= | CA1581268406 | FBN2 | n.919G= n.1000G= c.4135G= (p.Asp1379=) c.685G= (p.Asp229=) c.4036G= (p.Asp1346=) c.4132G= (p.Asp1378=) c.3982G= (p.Asp1328=) | |
5 | g.128332999C>G | CA360755268 | FBN2 | n.919G>C n.1000G>C c.4135G>C (p.Asp1379His) c.685G>C (p.Asp229His) c.4036G>C (p.Asp1346His) c.4132G>C (p.Asp1378His) c.3982G>C (p.Asp1328His) | ClinVar |
5 | g.128332999C>T | CA3395047 | FBN2 | n.919G>A n.1000G>A c.4135G>A (p.Asp1379Asn) c.685G>A (p.Asp229Asn) c.4036G>A (p.Asp1346Asn) c.4132G>A (p.Asp1378Asn) c.3982G>A (p.Asp1328Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333000G>A | CA3395048 | FBN2 | n.918C>T n.999C>T c.4134C>T (p.Cys1378=) c.684C>T (p.Cys228=) c.4035C>T (p.Cys1345=) c.4131C>T (p.Cys1377=) c.3981C>T (p.Cys1327=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
5 | g.128333000G>C | CA360755273 | FBN2 | n.918C>G n.999C>G c.4134C>G (p.Cys1378Trp) c.684C>G (p.Cys228Trp) c.4035C>G (p.Cys1345Trp) c.4131C>G (p.Cys1377Trp) c.3981C>G (p.Cys1327Trp) | |
5 | g.128333000G= | CA1581268407 | FBN2 | n.918C= n.999C= c.4134C= (p.Cys1378=) c.684C= (p.Cys228=) c.4035C= (p.Cys1345=) c.4131C= (p.Cys1377=) c.3981C= (p.Cys1327=) | |
5 | g.128333000G>T | CA360755276 | FBN2 | n.918C>A n.999C>A c.4134C>A (p.Cys1378Ter) c.684C>A (p.Cys228Ter) c.4035C>A (p.Cys1345Ter) c.4131C>A (p.Cys1377Ter) c.3981C>A (p.Cys1327Ter) | ClinVar gnomAD v4 |
5 | g.128333001C>A | CA360755280 | FBN2 | n.917G>T n.998G>T c.4133G>T (p.Cys1378Phe) c.683G>T (p.Cys228Phe) c.4034G>T (p.Cys1345Phe) c.4130G>T (p.Cys1377Phe) c.3980G>T (p.Cys1327Phe) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128333001C= | CA1581268408 | FBN2 | n.917G= n.998G= c.4133G= (p.Cys1378=) c.683G= (p.Cys228=) c.4034G= (p.Cys1345=) c.4130G= (p.Cys1377=) c.3980G= (p.Cys1327=) | |
5 | g.128333001C>G | CA360755282 | FBN2 | n.917G>C n.998G>C c.4133G>C (p.Cys1378Ser) c.683G>C (p.Cys228Ser) c.4034G>C (p.Cys1345Ser) c.4130G>C (p.Cys1377Ser) c.3980G>C (p.Cys1327Ser) | |
5 | g.128333001C>T | CA360755284 | FBN2 | n.917G>A n.998G>A c.4133G>A (p.Cys1378Tyr) c.683G>A (p.Cys228Tyr) c.4034G>A (p.Cys1345Tyr) c.4130G>A (p.Cys1377Tyr) c.3980G>A (p.Cys1327Tyr) | |
5 | g.128333002A= | CA1581268409 | FBN2 | n.916T= n.997T= c.4132T= (p.Cys1378=) c.682T= (p.Cys228=) c.4033T= (p.Cys1345=) c.4129T= (p.Cys1377=) c.3979T= (p.Cys1327=) | |
5 | g.128333002A>C | CA360755291 | FBN2 | n.916T>G n.997T>G c.4132T>G (p.Cys1378Gly) c.682T>G (p.Cys228Gly) c.4033T>G (p.Cys1345Gly) c.4129T>G (p.Cys1377Gly) c.3979T>G (p.Cys1327Gly) | |
5 | g.128333002A>G | CA324975 | FBN2 | n.916T>C n.997T>C c.4132T>C (p.Cys1378Arg) c.682T>C (p.Cys228Arg) c.4033T>C (p.Cys1345Arg) c.4129T>C (p.Cys1377Arg) c.3979T>C (p.Cys1327Arg) | ClinVar dbSNP |
5 | g.128333002A>T | CA360755288 | FBN2 | n.916T>A n.997T>A c.4132T>A (p.Cys1378Ser) c.682T>A (p.Cys228Ser) c.4033T>A (p.Cys1345Ser) c.4129T>A (p.Cys1377Ser) c.3979T>A (p.Cys1327Ser) | |
5 | g.128333003G>A | CA446309532 | FBN2 | n.915C>T n.996C>T c.4131C>T (p.Asn1377=) c.681C>T (p.Asn227=) c.4032C>T (p.Asn1344=) c.4128C>T (p.Asn1376=) c.3978C>T (p.Asn1326=) | gnomAD v4 |
5 | g.128333003G>C | CA360755293 | FBN2 | n.915C>G n.996C>G c.4131C>G (p.Asn1377Lys) c.681C>G (p.Asn227Lys) c.4032C>G (p.Asn1344Lys) c.4128C>G (p.Asn1376Lys) c.3978C>G (p.Asn1326Lys) | |
5 | g.128333003G= | CA1581268410 | FBN2 | n.915C= n.996C= c.4131C= (p.Asn1377=) c.681C= (p.Asn227=) c.4032C= (p.Asn1344=) c.4128C= (p.Asn1376=) c.3978C= (p.Asn1326=) | |
5 | g.128333003G>T | CA360755296 | FBN2 | n.915C>A n.996C>A c.4131C>A (p.Asn1377Lys) c.681C>A (p.Asn227Lys) c.4032C>A (p.Asn1344Lys) c.4128C>A (p.Asn1376Lys) c.3978C>A (p.Asn1326Lys) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128333004T>A | CA360755299 | FBN2 | n.914A>T n.995A>T c.4130A>T (p.Asn1377Ile) c.680A>T (p.Asn227Ile) c.4031A>T (p.Asn1344Ile) c.4127A>T (p.Asn1376Ile) c.3977A>T (p.Asn1326Ile) | |
5 | g.128333004T>C | CA360755300 | FBN2 | n.914A>G n.995A>G c.4130A>G (p.Asn1377Ser) c.680A>G (p.Asn227Ser) c.4031A>G (p.Asn1344Ser) c.4127A>G (p.Asn1376Ser) c.3977A>G (p.Asn1326Ser) | |
5 | g.128333004T>G | CA360755301 | FBN2 | n.914A>C n.995A>C c.4130A>C (p.Asn1377Thr) c.680A>C (p.Asn227Thr) c.4031A>C (p.Asn1344Thr) c.4127A>C (p.Asn1376Thr) c.3977A>C (p.Asn1326Thr) | |
5 | g.128333005T>A | CA360755304 | FBN2 | n.913A>T n.994A>T c.4129A>T (p.Asn1377Tyr) c.679A>T (p.Asn227Tyr) c.4030A>T (p.Asn1344Tyr) c.4126A>T (p.Asn1376Tyr) c.3976A>T (p.Asn1326Tyr) | |
5 | g.128333005T>C | CA360755302 | FBN2 | n.913A>G n.994A>G c.4129A>G (p.Asn1377Asp) c.679A>G (p.Asn227Asp) c.4030A>G (p.Asn1344Asp) c.4126A>G (p.Asn1376Asp) c.3976A>G (p.Asn1326Asp) | |
5 | g.128333005T>G | CA360755303 | FBN2 | n.913A>C n.994A>C c.4129A>C (p.Asn1377His) c.679A>C (p.Asn227His) c.4030A>C (p.Asn1344His) c.4126A>C (p.Asn1376His) c.3976A>C (p.Asn1326His) | |
5 | g.128333006A>C | CA360755306 | FBN2 | n.912T>G n.993T>G c.4128T>G (p.His1376Gln) c.678T>G (p.His226Gln) c.4029T>G (p.His1343Gln) c.4125T>G (p.His1375Gln) c.3975T>G (p.His1325Gln) | gnomAD v4 |
5 | g.128333006A>G | CA446309533 | FBN2 | n.912T>C n.993T>C c.4128T>C (p.His1376=) c.678T>C (p.His226=) c.4029T>C (p.His1343=) c.4125T>C (p.His1375=) c.3975T>C (p.His1325=) | |
5 | g.128333006A>T | CA360755308 | FBN2 | n.912T>A n.993T>A c.4128T>A (p.His1376Gln) c.678T>A (p.His226Gln) c.4029T>A (p.His1343Gln) c.4125T>A (p.His1375Gln) c.3975T>A (p.His1325Gln) | |
5 | g.128333007T>A | CA360755312 | FBN2 | n.911A>T n.992A>T c.4127A>T (p.His1376Leu) c.677A>T (p.His226Leu) c.4028A>T (p.His1343Leu) c.4124A>T (p.His1375Leu) c.3974A>T (p.His1325Leu) | dbSNP |
5 | g.128333007T>C | CA360755315 | FBN2 | n.911A>G n.992A>G c.4127A>G (p.His1376Arg) c.677A>G (p.His226Arg) c.4028A>G (p.His1343Arg) c.4124A>G (p.His1375Arg) c.3974A>G (p.His1325Arg) | ClinVar dbSNP |
5 | g.128333007T>G | CA360755319 | FBN2 | n.911A>C n.992A>C c.4127A>C (p.His1376Pro) c.677A>C (p.His226Pro) c.4028A>C (p.His1343Pro) c.4124A>C (p.His1375Pro) c.3974A>C (p.His1325Pro) | gnomAD v4 |
5 | g.128333007T= | CA1581268411 | FBN2 | n.911A= n.992A= c.4127A= (p.His1376=) c.677A= (p.His226=) c.4028A= (p.His1343=) c.4124A= (p.His1375=) c.3974A= (p.His1325=) | |
5 | g.128333008G>A | CA3395049 | FBN2 | n.910C>T n.991C>T c.4126C>T (p.His1376Tyr) c.676C>T (p.His226Tyr) c.4027C>T (p.His1343Tyr) c.4123C>T (p.His1375Tyr) c.3973C>T (p.His1325Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333008G>C | CA360755330 | FBN2 | n.910C>G n.991C>G c.4126C>G (p.His1376Asp) c.676C>G (p.His226Asp) c.4027C>G (p.His1343Asp) c.4123C>G (p.His1375Asp) c.3973C>G (p.His1325Asp) | |
5 | g.128333008G= | CA1581268412 | FBN2 | n.910C= n.991C= c.4126C= (p.His1376=) c.676C= (p.His226=) c.4027C= (p.His1343=) c.4123C= (p.His1375=) c.3973C= (p.His1325=) | |
5 | g.128333008G>T | CA360755327 | FBN2 | n.910C>A n.991C>A c.4126C>A (p.His1376Asn) c.676C>A (p.His226Asn) c.4027C>A (p.His1343Asn) c.4123C>A (p.His1375Asn) c.3973C>A (p.His1325Asn) | |
5 | g.128333009A>C | CA446309536 | FBN2 | n.909T>G n.990T>G c.4125T>G (p.Ala1375=) c.675T>G (p.Ala225=) c.4026T>G (p.Ala1342=) c.4122T>G (p.Ala1374=) c.3972T>G (p.Ala1324=) | |
5 | g.128333009A>G | CA446309535 | FBN2 | n.909T>C n.990T>C c.4125T>C (p.Ala1375=) c.675T>C (p.Ala225=) c.4026T>C (p.Ala1342=) c.4122T>C (p.Ala1374=) c.3972T>C (p.Ala1324=) | |
5 | g.128333009A>T | CA446309534 | FBN2 | n.909T>A n.990T>A c.4125T>A (p.Ala1375=) c.675T>A (p.Ala225=) c.4026T>A (p.Ala1342=) c.4122T>A (p.Ala1374=) c.3972T>A (p.Ala1324=) | |
5 | g.128333010G>A | CA3395050 | FBN2 | n.908C>T n.989C>T c.4124C>T (p.Ala1375Val) c.674C>T (p.Ala225Val) c.4025C>T (p.Ala1342Val) c.4121C>T (p.Ala1374Val) c.3971C>T (p.Ala1324Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333010G>C | CA360755332 | FBN2 | n.908C>G n.989C>G c.4124C>G (p.Ala1375Gly) c.674C>G (p.Ala225Gly) c.4025C>G (p.Ala1342Gly) c.4121C>G (p.Ala1374Gly) c.3971C>G (p.Ala1324Gly) | |
5 | g.128333010G= | CA1581268413 | FBN2 | n.908C= n.989C= c.4124C= (p.Ala1375=) c.674C= (p.Ala225=) c.4025C= (p.Ala1342=) c.4121C= (p.Ala1374=) c.3971C= (p.Ala1324=) | |
5 | g.128333010G>T | CA360755333 | FBN2 | n.908C>A n.989C>A c.4124C>A (p.Ala1375Asp) c.674C>A (p.Ala225Asp) c.4025C>A (p.Ala1342Asp) c.4121C>A (p.Ala1374Asp) c.3971C>A (p.Ala1324Asp) | |
5 | g.128333011C>A | CA360755338 | FBN2 | n.907G>T n.988G>T c.4123G>T (p.Ala1375Ser) c.673G>T (p.Ala225Ser) c.4024G>T (p.Ala1342Ser) c.4120G>T (p.Ala1374Ser) c.3970G>T (p.Ala1324Ser) | |
5 | g.128333011C>G | CA360755342 | FBN2 | n.907G>C n.988G>C c.4123G>C (p.Ala1375Pro) c.673G>C (p.Ala225Pro) c.4024G>C (p.Ala1342Pro) c.4120G>C (p.Ala1374Pro) c.3970G>C (p.Ala1324Pro) | |
5 | g.128333011C>T | CA360755344 | FBN2 | n.907G>A n.988G>A c.4123G>A (p.Ala1375Thr) c.673G>A (p.Ala225Thr) c.4024G>A (p.Ala1342Thr) c.4120G>A (p.Ala1374Thr) c.3970G>A (p.Ala1324Thr) | |
5 | g.128333012A>C | CA446309537 | FBN2 | n.906T>G n.987T>G c.4122T>G (p.Gly1374=) c.672T>G (p.Gly224=) c.4023T>G (p.Gly1341=) c.4119T>G (p.Gly1373=) c.3969T>G (p.Gly1323=) | ClinVar dbSNP gnomAD v4 |
5 | g.128333012A>G | CA446309538 | FBN2 | n.906T>C n.987T>C c.4122T>C (p.Gly1374=) c.672T>C (p.Gly224=) c.4023T>C (p.Gly1341=) c.4119T>C (p.Gly1373=) c.3969T>C (p.Gly1323=) | |
5 | g.128333012A>T | CA446309539 | FBN2 | n.906T>A n.987T>A c.4122T>A (p.Gly1374=) c.672T>A (p.Gly224=) c.4023T>A (p.Gly1341=) c.4119T>A (p.Gly1373=) c.3969T>A (p.Gly1323=) | |
5 | g.128333013C>A | CA360755347 | FBN2 | n.905G>T n.986G>T c.4121G>T (p.Gly1374Val) c.671G>T (p.Gly224Val) c.4022G>T (p.Gly1341Val) c.4118G>T (p.Gly1373Val) c.3968G>T (p.Gly1323Val) | ClinVar dbSNP |
5 | g.128333013C>G | CA360755351 | FBN2 | n.905G>C n.986G>C c.4121G>C (p.Gly1374Ala) c.671G>C (p.Gly224Ala) c.4022G>C (p.Gly1341Ala) c.4118G>C (p.Gly1373Ala) c.3968G>C (p.Gly1323Ala) | gnomAD v4 |
5 | g.128333013C>T | CA360755350 | FBN2 | n.905G>A n.986G>A c.4121G>A (p.Gly1374Asp) c.671G>A (p.Gly224Asp) c.4022G>A (p.Gly1341Asp) c.4118G>A (p.Gly1373Asp) c.3968G>A (p.Gly1323Asp) | |
5 | g.128333014C>A | CA360755352 | FBN2 | n.904G>T n.985G>T c.4120G>T (p.Gly1374Cys) c.670G>T (p.Gly224Cys) c.4021G>T (p.Gly1341Cys) c.4117G>T (p.Gly1373Cys) c.3967G>T (p.Gly1323Cys) | |
5 | g.128333014C>G | CA360755353 | FBN2 | n.904G>C n.985G>C c.4120G>C (p.Gly1374Arg) c.670G>C (p.Gly224Arg) c.4021G>C (p.Gly1341Arg) c.4117G>C (p.Gly1373Arg) c.3967G>C (p.Gly1323Arg) | |
5 | g.128333014C>T | CA360755354 | FBN2 | n.904G>A n.985G>A c.4120G>A (p.Gly1374Ser) c.670G>A (p.Gly224Ser) c.4021G>A (p.Gly1341Ser) c.4117G>A (p.Gly1373Ser) c.3967G>A (p.Gly1323Ser) | gnomAD v4 |
5 | g.128333015A>C | CA360755358 | FBN2 | n.903T>G n.984T>G c.4119T>G (p.Ile1373Met) c.669T>G (p.Ile223Met) c.4020T>G (p.Ile1340Met) c.4116T>G (p.Ile1372Met) c.3966T>G (p.Ile1322Met) | |
5 | g.128333015A>G | CA446309541 | FBN2 | n.903T>C n.984T>C c.4119T>C (p.Ile1373=) c.669T>C (p.Ile223=) c.4020T>C (p.Ile1340=) c.4116T>C (p.Ile1372=) c.3966T>C (p.Ile1322=) | |
5 | g.128333015A>T | CA446309540 | FBN2 | n.903T>A n.984T>A c.4119T>A (p.Ile1373=) c.669T>A (p.Ile223=) c.4020T>A (p.Ile1340=) c.4116T>A (p.Ile1372=) c.3966T>A (p.Ile1322=) | |
5 | g.128333016A= | CA1581268414 | FBN2 | n.902T= n.983T= c.4118T= (p.Ile1373=) c.668T= (p.Ile223=) c.4019T= (p.Ile1340=) c.4115T= (p.Ile1372=) c.3965T= (p.Ile1322=) | |
5 | g.128333016A>C | CA360755362 | FBN2 | n.902T>G n.983T>G c.4118T>G (p.Ile1373Ser) c.668T>G (p.Ile223Ser) c.4019T>G (p.Ile1340Ser) c.4115T>G (p.Ile1372Ser) c.3965T>G (p.Ile1322Ser) | |
5 | g.128333016A>G | CA127007021 | FBN2 | n.902T>C n.983T>C c.4118T>C (p.Ile1373Thr) c.668T>C (p.Ile223Thr) c.4019T>C (p.Ile1340Thr) c.4115T>C (p.Ile1372Thr) c.3965T>C (p.Ile1322Thr) | ClinVar dbSNP gnomAD v4 |
5 | g.128333016A>T | CA360755366 | FBN2 | n.902T>A n.983T>A c.4118T>A (p.Ile1373Asn) c.668T>A (p.Ile223Asn) c.4019T>A (p.Ile1340Asn) c.4115T>A (p.Ile1372Asn) c.3965T>A (p.Ile1322Asn) | |
5 | g.128333017T>A | CA360755369 | FBN2 | n.901A>T n.982A>T c.4117A>T (p.Ile1373Phe) c.667A>T (p.Ile223Phe) c.4018A>T (p.Ile1340Phe) c.4114A>T (p.Ile1372Phe) c.3964A>T (p.Ile1322Phe) | |
5 | g.128333017T>C | CA360755373 | FBN2 | n.901A>G n.982A>G c.4117A>G (p.Ile1373Val) c.667A>G (p.Ile223Val) c.4018A>G (p.Ile1340Val) c.4114A>G (p.Ile1372Val) c.3964A>G (p.Ile1322Val) | |
5 | g.128333017T>G | CA360755378 | FBN2 | n.901A>C n.982A>C c.4117A>C (p.Ile1373Leu) c.667A>C (p.Ile223Leu) c.4018A>C (p.Ile1340Leu) c.4114A>C (p.Ile1372Leu) c.3964A>C (p.Ile1322Leu) | |
5 | g.128333018T>A | CA360755386 | FBN2 | n.900A>T n.981A>T c.4116A>T (p.Glu1372Asp) c.666A>T (p.Glu222Asp) c.4017A>T (p.Glu1339Asp) c.4113A>T (p.Glu1371Asp) c.3963A>T (p.Glu1321Asp) | |
5 | g.128333018T>C | CA446309543 | FBN2 | n.900A>G n.981A>G c.4116A>G (p.Glu1372=) c.666A>G (p.Glu222=) c.4017A>G (p.Glu1339=) c.4113A>G (p.Glu1371=) c.3963A>G (p.Glu1321=) | |
5 | g.128333018T>G | CA360755387 | FBN2 | n.900A>C n.981A>C c.4116A>C (p.Glu1372Asp) c.666A>C (p.Glu222Asp) c.4017A>C (p.Glu1339Asp) c.4113A>C (p.Glu1371Asp) c.3963A>C (p.Glu1321Asp) | |
5 | g.128333019T>A | CA360755394 | FBN2 | n.899A>T n.980A>T c.4115A>T (p.Glu1372Val) c.665A>T (p.Glu222Val) c.4016A>T (p.Glu1339Val) c.4112A>T (p.Glu1371Val) c.3962A>T (p.Glu1321Val) | |
5 | g.128333019T>C | CA360755397 | FBN2 | n.899A>G n.980A>G c.4115A>G (p.Glu1372Gly) c.665A>G (p.Glu222Gly) c.4016A>G (p.Glu1339Gly) c.4112A>G (p.Glu1371Gly) c.3962A>G (p.Glu1321Gly) | |
5 | g.128333019T>G | CA360755389 | FBN2 | n.899A>C n.980A>C c.4115A>C (p.Glu1372Ala) c.665A>C (p.Glu222Ala) c.4016A>C (p.Glu1339Ala) c.4112A>C (p.Glu1371Ala) c.3962A>C (p.Glu1321Ala) | |
5 | g.128333020C>A | CA360755401 | FBN2 | n.898G>T n.979G>T c.4114G>T (p.Glu1372Ter) c.664G>T (p.Glu222Ter) c.4015G>T (p.Glu1339Ter) c.4111G>T (p.Glu1371Ter) c.3961G>T (p.Glu1321Ter) | |
5 | g.128333020C>G | CA360755404 | FBN2 | n.898G>C n.979G>C c.4114G>C (p.Glu1372Gln) c.664G>C (p.Glu222Gln) c.4015G>C (p.Glu1339Gln) c.4111G>C (p.Glu1371Gln) c.3961G>C (p.Glu1321Gln) | |
5 | g.128333020C>T | CA360755411 | FBN2 | n.898G>A n.979G>A c.4114G>A (p.Glu1372Lys) c.664G>A (p.Glu222Lys) c.4015G>A (p.Glu1339Lys) c.4111G>A (p.Glu1371Lys) c.3961G>A (p.Glu1321Lys) | |
5 | g.128333021A>C | CA360755413 | FBN2 | n.897T>G n.978T>G c.4113T>G (p.Cys1371Trp) c.663T>G (p.Cys221Trp) c.4014T>G (p.Cys1338Trp) c.4110T>G (p.Cys1370Trp) c.3960T>G (p.Cys1320Trp) | |
5 | g.128333021A>G | CA446309544 | FBN2 | n.897T>C n.978T>C c.4113T>C (p.Cys1371=) c.663T>C (p.Cys221=) c.4014T>C (p.Cys1338=) c.4110T>C (p.Cys1370=) c.3960T>C (p.Cys1320=) | |
5 | g.128333021A>T | CA360755415 | FBN2 | n.897T>A n.978T>A c.4113T>A (p.Cys1371Ter) c.663T>A (p.Cys221Ter) c.4014T>A (p.Cys1338Ter) c.4110T>A (p.Cys1370Ter) c.3960T>A (p.Cys1320Ter) | |
5 | g.128333022C>A | CA360755426 | FBN2 | n.896G>T n.977G>T c.4112G>T (p.Cys1371Phe) c.662G>T (p.Cys221Phe) c.4013G>T (p.Cys1338Phe) c.4109G>T (p.Cys1370Phe) c.3959G>T (p.Cys1320Phe) | ClinVar |
5 | g.128333022C>G | CA360755423 | FBN2 | n.896G>C n.977G>C c.4112G>C (p.Cys1371Ser) c.662G>C (p.Cys221Ser) c.4013G>C (p.Cys1338Ser) c.4109G>C (p.Cys1370Ser) c.3959G>C (p.Cys1320Ser) | |
5 | g.128333022C>T | CA360755425 | FBN2 | n.896G>A n.977G>A c.4112G>A (p.Cys1371Tyr) c.662G>A (p.Cys221Tyr) c.4013G>A (p.Cys1338Tyr) c.4109G>A (p.Cys1370Tyr) c.3959G>A (p.Cys1320Tyr) | |
5 | g.128333023A>C | CA360755427 | FBN2 | n.895T>G n.976T>G c.4111T>G (p.Cys1371Gly) c.661T>G (p.Cys221Gly) c.4012T>G (p.Cys1338Gly) c.4108T>G (p.Cys1370Gly) c.3958T>G (p.Cys1320Gly) | |
5 | g.128333023A>G | CA360755428 | FBN2 | n.895T>C n.976T>C c.4111T>C (p.Cys1371Arg) c.661T>C (p.Cys221Arg) c.4012T>C (p.Cys1338Arg) c.4108T>C (p.Cys1370Arg) c.3958T>C (p.Cys1320Arg) | |
5 | g.128333023A>T | CA360755430 | FBN2 | n.895T>A n.976T>A c.4111T>A (p.Cys1371Ser) c.661T>A (p.Cys221Ser) c.4012T>A (p.Cys1338Ser) c.4108T>A (p.Cys1370Ser) c.3958T>A (p.Cys1320Ser) | |
5 | g.128333024C>A | CA360755436 | FBN2 | n.894G>T n.975G>T c.4110G>T (p.Glu1370Asp) c.660G>T (p.Glu220Asp) c.4011G>T (p.Glu1337Asp) c.4107G>T (p.Glu1369Asp) c.3957G>T (p.Glu1319Asp) | |
5 | g.128333024C= | CA1581268415 | FBN2 | n.894G= n.975G= c.4110G= (p.Glu1370=) c.660G= (p.Glu220=) c.4011G= (p.Glu1337=) c.4107G= (p.Glu1369=) c.3957G= (p.Glu1319=) | |
5 | g.128333024C>G | CA360755442 | FBN2 | n.894G>C n.975G>C c.4110G>C (p.Glu1370Asp) c.660G>C (p.Glu220Asp) c.4011G>C (p.Glu1337Asp) c.4107G>C (p.Glu1369Asp) c.3957G>C (p.Glu1319Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128333024C>T | CA446309546 | FBN2 | n.894G>A n.975G>A c.4110G>A (p.Glu1370=) c.660G>A (p.Glu220=) c.4011G>A (p.Glu1337=) c.4107G>A (p.Glu1369=) c.3957G>A (p.Glu1319=) | ClinVar dbSNP |
5 | g.128333025T>A | CA360755453 | FBN2 | n.893A>T n.974A>T c.4109A>T (p.Glu1370Val) c.659A>T (p.Glu220Val) c.4010A>T (p.Glu1337Val) c.4106A>T (p.Glu1369Val) c.3956A>T (p.Glu1319Val) | |
5 | g.128333025T>C | CA360755461 | FBN2 | n.893A>G n.974A>G c.4109A>G (p.Glu1370Gly) c.659A>G (p.Glu220Gly) c.4010A>G (p.Glu1337Gly) c.4106A>G (p.Glu1369Gly) c.3956A>G (p.Glu1319Gly) | |
5 | g.128333025T>G | CA360755457 | FBN2 | n.893A>C n.974A>C c.4109A>C (p.Glu1370Ala) c.659A>C (p.Glu220Ala) c.4010A>C (p.Glu1337Ala) c.4106A>C (p.Glu1369Ala) c.3956A>C (p.Glu1319Ala) | |
5 | g.128333026C>A | CA360755471 | FBN2 | n.892G>T n.973G>T c.4108G>T (p.Glu1370Ter) c.658G>T (p.Glu220Ter) c.4009G>T (p.Glu1337Ter) c.4105G>T (p.Glu1369Ter) c.3955G>T (p.Glu1319Ter) | |
5 | g.128333026C>G | CA360755475 | FBN2 | n.892G>C n.973G>C c.4108G>C (p.Glu1370Gln) c.658G>C (p.Glu220Gln) c.4009G>C (p.Glu1337Gln) c.4105G>C (p.Glu1369Gln) c.3955G>C (p.Glu1319Gln) | |
5 | g.128333026C>T | CA360755474 | FBN2 | n.892G>A n.973G>A c.4108G>A (p.Glu1370Lys) c.658G>A (p.Glu220Lys) c.4009G>A (p.Glu1337Lys) c.4105G>A (p.Glu1369Lys) c.3955G>A (p.Glu1319Lys) | |
5 | g.128333027A>C | CA360755476 | FBN2 | n.891T>G n.972T>G c.4107T>G (p.Asp1369Glu) c.657T>G (p.Asp219Glu) c.4008T>G (p.Asp1336Glu) c.4104T>G (p.Asp1368Glu) c.3954T>G (p.Asp1318Glu) | |
5 | g.128333027A>G | CA446309547 | FBN2 | n.891T>C n.972T>C c.4107T>C (p.Asp1369=) c.657T>C (p.Asp219=) c.4008T>C (p.Asp1336=) c.4104T>C (p.Asp1368=) c.3954T>C (p.Asp1318=) | |
5 | g.128333027A>T | CA360755477 | FBN2 | n.891T>A n.972T>A c.4107T>A (p.Asp1369Glu) c.657T>A (p.Asp219Glu) c.4008T>A (p.Asp1336Glu) c.4104T>A (p.Asp1368Glu) c.3954T>A (p.Asp1318Glu) | |
5 | g.128333028T>A | CA360755481 | FBN2 | n.890A>T n.971A>T c.4106A>T (p.Asp1369Val) c.656A>T (p.Asp219Val) c.4007A>T (p.Asp1336Val) c.4103A>T (p.Asp1368Val) c.3953A>T (p.Asp1318Val) | |
5 | g.128333028T>C | CA360755484 | FBN2 | n.890A>G n.971A>G c.4106A>G (p.Asp1369Gly) c.656A>G (p.Asp219Gly) c.4007A>G (p.Asp1336Gly) c.4103A>G (p.Asp1368Gly) c.3953A>G (p.Asp1318Gly) | |
5 | g.128333028T>G | CA360755495 | FBN2 | n.890A>C n.971A>C c.4106A>C (p.Asp1369Ala) c.656A>C (p.Asp219Ala) c.4007A>C (p.Asp1336Ala) c.4103A>C (p.Asp1368Ala) c.3953A>C (p.Asp1318Ala) | |
5 | g.128333029C>A | CA360755499 | FBN2 | n.889G>T n.970G>T c.4105G>T (p.Asp1369Tyr) c.655G>T (p.Asp219Tyr) c.4006G>T (p.Asp1336Tyr) c.4102G>T (p.Asp1368Tyr) c.3952G>T (p.Asp1318Tyr) | |
5 | g.128333029C>G | CA360755500 | FBN2 | n.889G>C n.970G>C c.4105G>C (p.Asp1369His) c.655G>C (p.Asp219His) c.4006G>C (p.Asp1336His) c.4102G>C (p.Asp1368His) c.3952G>C (p.Asp1318His) | |
5 | g.128333029C>T | CA360755502 | FBN2 | n.889G>A n.970G>A c.4105G>A (p.Asp1369Asn) c.655G>A (p.Asp219Asn) c.4006G>A (p.Asp1336Asn) c.4102G>A (p.Asp1368Asn) c.3952G>A (p.Asp1318Asn) | gnomAD v4 |
5 | g.128333030C>A | CA446309548 | FBN2 | n.888G>T n.969G>T c.4104G>T (p.Val1368=) c.654G>T (p.Val218=) c.4005G>T (p.Val1335=) c.4101G>T (p.Val1367=) c.3951G>T (p.Val1317=) | |
5 | g.128333030C>G | CA446309549 | FBN2 | n.888G>C n.969G>C c.4104G>C (p.Val1368=) c.654G>C (p.Val218=) c.4005G>C (p.Val1335=) c.4101G>C (p.Val1367=) c.3951G>C (p.Val1317=) | |
5 | g.128333030C>T | CA446309550 | FBN2 | n.888G>A n.969G>A c.4104G>A (p.Val1368=) c.654G>A (p.Val218=) c.4005G>A (p.Val1335=) c.4101G>A (p.Val1367=) c.3951G>A (p.Val1317=) | gnomAD v4 |
5 | g.128333031A= | CA1581268416 | FBN2 | n.887T= n.968T= c.4103T= (p.Val1368=) c.653T= (p.Val218=) c.4004T= (p.Val1335=) c.4100T= (p.Val1367=) c.3950T= (p.Val1317=) | |
5 | g.128333031A>C | CA360755504 | FBN2 | n.887T>G n.968T>G c.4103T>G (p.Val1368Gly) c.653T>G (p.Val218Gly) c.4004T>G (p.Val1335Gly) c.4100T>G (p.Val1367Gly) c.3950T>G (p.Val1317Gly) | |
5 | g.128333031A>G | CA3395051 | FBN2 | n.887T>C n.968T>C c.4103T>C (p.Val1368Ala) c.653T>C (p.Val218Ala) c.4004T>C (p.Val1335Ala) c.4100T>C (p.Val1367Ala) c.3950T>C (p.Val1317Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333031A>T | CA360755508 | FBN2 | n.887T>A n.968T>A c.4103T>A (p.Val1368Glu) c.653T>A (p.Val218Glu) c.4004T>A (p.Val1335Glu) c.4100T>A (p.Val1367Glu) c.3950T>A (p.Val1317Glu) | |
5 | g.128333032C>A | CA360755513 | FBN2 | n.886G>T n.967G>T c.4102G>T (p.Val1368Leu) c.652G>T (p.Val218Leu) c.4003G>T (p.Val1335Leu) c.4099G>T (p.Val1367Leu) c.3949G>T (p.Val1317Leu) | |
5 | g.128333032C= | CA1581268417 | FBN2 | n.886G= n.967G= c.4102G= (p.Val1368=) c.652G= (p.Val218=) c.4003G= (p.Val1335=) c.4099G= (p.Val1367=) c.3949G= (p.Val1317=) | |
5 | g.128333032C>G | CA360755512 | FBN2 | n.886G>C n.967G>C c.4102G>C (p.Val1368Leu) c.652G>C (p.Val218Leu) c.4003G>C (p.Val1335Leu) c.4099G>C (p.Val1367Leu) c.3949G>C (p.Val1317Leu) | |
5 | g.128333032C>T | CA322688 | FBN2 | n.886G>A n.967G>A c.4102G>A (p.Val1368Met) c.652G>A (p.Val218Met) c.4003G>A (p.Val1335Met) c.4099G>A (p.Val1367Met) c.3949G>A (p.Val1317Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333033A= | CA1581268418 | FBN2 | n.885T= n.966T= c.4101T= (p.Asp1367=) c.651T= (p.Asp217=) c.4002T= (p.Asp1334=) c.4098T= (p.Asp1366=) c.3948T= (p.Asp1316=) | |
5 | g.128333033A>C | CA360755516 | FBN2 | n.885T>G n.966T>G c.4101T>G (p.Asp1367Glu) c.651T>G (p.Asp217Glu) c.4002T>G (p.Asp1334Glu) c.4098T>G (p.Asp1366Glu) c.3948T>G (p.Asp1316Glu) | |
5 | g.128333033A>G | CA446309551 | FBN2 | n.885T>C n.966T>C c.4101T>C (p.Asp1367=) c.651T>C (p.Asp217=) c.4002T>C (p.Asp1334=) c.4098T>C (p.Asp1366=) c.3948T>C (p.Asp1316=) | |
5 | g.128333033A>T | CA360755519 | FBN2 | n.885T>A n.966T>A c.4101T>A (p.Asp1367Glu) c.651T>A (p.Asp217Glu) c.4002T>A (p.Asp1334Glu) c.4098T>A (p.Asp1366Glu) c.3948T>A (p.Asp1316Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128333034T>A | CA360755540 | FBN2 | n.884A>T n.965A>T c.4100A>T (p.Asp1367Val) c.650A>T (p.Asp217Val) c.4001A>T (p.Asp1334Val) c.4097A>T (p.Asp1366Val) c.3947A>T (p.Asp1316Val) | ClinVar dbSNP |
5 | g.128333034T>C | CA360755546 | FBN2 | n.884A>G n.965A>G c.4100A>G (p.Asp1367Gly) c.650A>G (p.Asp217Gly) c.4001A>G (p.Asp1334Gly) c.4097A>G (p.Asp1366Gly) c.3947A>G (p.Asp1316Gly) | |
5 | g.128333034T>G | CA360755549 | FBN2 | n.884A>C n.965A>C c.4100A>C (p.Asp1367Ala) c.650A>C (p.Asp217Ala) c.4001A>C (p.Asp1334Ala) c.4097A>C (p.Asp1366Ala) c.3947A>C (p.Asp1316Ala) | |
5 | g.128333034T= | CA1581268419 | FBN2 | n.884A= n.965A= c.4100A= (p.Asp1367=) c.650A= (p.Asp217=) c.4001A= (p.Asp1334=) c.4097A= (p.Asp1366=) c.3947A= (p.Asp1316=) | |
5 | g.128333035C>A | CA360755558 | FBN2 | n.884-1G>T n.965-1G>T c.4100-1G>T (n.4100-1G>T) c.650-1G>T (n.650-1G>T) c.4001-1G>T (n.4001-1G>T) c.4097-1G>T (n.4097-1G>T) c.3947-1G>T (n.3947-1G>T) | |
5 | g.128333035C>G | CA360755562 | FBN2 | n.884-1G>C n.965-1G>C c.4100-1G>C (n.4100-1G>C) c.650-1G>C (n.650-1G>C) c.4001-1G>C (n.4001-1G>C) c.4097-1G>C (n.4097-1G>C) c.3947-1G>C (n.3947-1G>C) | |
5 | g.128333035C>T | CA360755567 | FBN2 | n.884-1G>A n.965-1G>A c.4100-1G>A (n.4100-1G>A) c.650-1G>A (n.650-1G>A) c.4001-1G>A (n.4001-1G>A) c.4097-1G>A (n.4097-1G>A) c.3947-1G>A (n.3947-1G>A) | |
5 | g.128333036T>A | CA360755578 | FBN2 | n.884-2A>T n.965-2A>T c.4100-2A>T (n.4100-2A>T) c.650-2A>T (n.650-2A>T) c.4001-2A>T (n.4001-2A>T) c.4097-2A>T (n.4097-2A>T) c.3947-2A>T (n.3947-2A>T) | |
5 | g.128333036T>C | CA360755592 | FBN2 | n.884-2A>G n.965-2A>G c.4100-2A>G (n.4100-2A>G) c.650-2A>G (n.650-2A>G) c.4001-2A>G (n.4001-2A>G) c.4097-2A>G (n.4097-2A>G) c.3947-2A>G (n.3947-2A>G) | |
5 | g.128333036T>G | CA360755595 | FBN2 | n.884-2A>C n.965-2A>C c.4100-2A>C (n.4100-2A>C) c.650-2A>C (n.650-2A>C) c.4001-2A>C (n.4001-2A>C) c.4097-2A>C (n.4097-2A>C) c.3947-2A>C (n.3947-2A>C) | ClinVar dbSNP |
5 | g.128333036T= | CA1581268420 | FBN2 | n.884-2A= n.965-2A= c.4100-2A= (n.4100-2A=) c.650-2A= (n.650-2A=) c.4001-2A= (n.4001-2A=) c.4097-2A= (n.4097-2A=) c.3947-2A= (n.3947-2A=) | |
5 | g.128333038A= | CA1581268421 | FBN2 | n.884-4T= n.965-4T= c.4100-4T= (n.4100-4T=) c.650-4T= (n.650-4T=) c.4001-4T= (n.4001-4T=) c.4097-4T= (n.4097-4T=) c.3947-4T= (n.3947-4T=) | |
5 | g.128333038A>G | CA562714846 | FBN2 | n.884-4T>C n.965-4T>C c.4100-4T>C (n.4100-4T>C) c.650-4T>C (n.650-4T>C) c.4001-4T>C (n.4001-4T>C) c.4097-4T>C (n.4097-4T>C) c.3947-4T>C (n.3947-4T>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128333039T>C | CA2578396269 | FBN2 | n.884-5A>G n.965-5A>G c.4100-5A>G (n.4100-5A>G) c.650-5A>G (n.650-5A>G) c.4001-5A>G (n.4001-5A>G) c.4097-5A>G (n.4097-5A>G) c.3947-5A>G (n.3947-5A>G) | |
5 | g.128333039T>G | CA2501584408 | FBN2 | n.884-5A>C n.965-5A>C c.4100-5A>C (n.4100-5A>C) c.650-5A>C (n.650-5A>C) c.4001-5A>C (n.4001-5A>C) c.4097-5A>C (n.4097-5A>C) c.3947-5A>C (n.3947-5A>C) | |
5 | g.128333040A= | CA1581268422 | FBN2 | n.884-6T= n.965-6T= c.4100-6T= (n.4100-6T=) c.650-6T= (n.650-6T=) c.4001-6T= (n.4001-6T=) c.4097-6T= (n.4097-6T=) c.3947-6T= (n.3947-6T=) | |
5 | g.128333040A>G | CA1081363870 | FBN2 | n.884-6T>C n.965-6T>C c.4100-6T>C (n.4100-6T>C) c.650-6T>C (n.650-6T>C) c.4001-6T>C (n.4001-6T>C) c.4097-6T>C (n.4097-6T>C) c.3947-6T>C (n.3947-6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128333042A>G | CA2675116769 | FBN2 | n.884-8T>C n.965-8T>C c.4100-8T>C (n.4100-8T>C) c.650-8T>C (n.650-8T>C) c.4001-8T>C (n.4001-8T>C) c.4097-8T>C (n.4097-8T>C) c.3947-8T>C (n.3947-8T>C) | ClinVar gnomAD v4 |
5 | g.128333043C>A | CA244153 | FBN2 | n.884-9G>T n.965-9G>T c.4100-9G>T (n.4100-9G>T) c.650-9G>T (n.650-9G>T) c.4001-9G>T (n.4001-9G>T) c.4097-9G>T (n.4097-9G>T) c.3947-9G>T (n.3947-9G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333043C= | CA1581268423 | FBN2 | n.884-9G= n.965-9G= c.4100-9G= (n.4100-9G=) c.650-9G= (n.650-9G=) c.4001-9G= (n.4001-9G=) c.4097-9G= (n.4097-9G=) c.3947-9G= (n.3947-9G=) | |
5 | g.128333044C>A | CA2578396270 | FBN2 | n.884-10G>T n.965-10G>T c.4100-10G>T (n.4100-10G>T) c.650-10G>T (n.650-10G>T) c.4001-10G>T (n.4001-10G>T) c.4097-10G>T (n.4097-10G>T) c.3947-10G>T (n.3947-10G>T) | gnomAD v4 |
5 | g.128333045A= | CA1581268424 | FBN2 | n.884-11T= n.965-11T= c.4100-11T= (n.4100-11T=) c.650-11T= (n.650-11T=) c.4001-11T= (n.4001-11T=) c.4097-11T= (n.4097-11T=) c.3947-11T= (n.3947-11T=) | |
5 | g.128333045A>G | CA1081363877 | FBN2 | n.884-11T>C n.965-11T>C c.4100-11T>C (n.4100-11T>C) c.650-11T>C (n.650-11T>C) c.4001-11T>C (n.4001-11T>C) c.4097-11T>C (n.4097-11T>C) c.3947-11T>C (n.3947-11T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128333046T>C | CA2578396271 | FBN2 | n.884-12A>G n.965-12A>G c.4100-12A>G (n.4100-12A>G) c.650-12A>G (n.650-12A>G) c.4001-12A>G (n.4001-12A>G) c.4097-12A>G (n.4097-12A>G) c.3947-12A>G (n.3947-12A>G) | gnomAD v4 |
5 | g.128333048A>G | CA2675116770 | FBN2 | n.884-14T>C n.965-14T>C c.4100-14T>C (n.4100-14T>C) c.650-14T>C (n.650-14T>C) c.4001-14T>C (n.4001-14T>C) c.4097-14T>C (n.4097-14T>C) c.3947-14T>C (n.3947-14T>C) | gnomAD v4 |
5 | g.128333050T>A | CA2768335729 | FBN2 | n.884-16A>T n.965-16A>T c.4100-16A>T (n.4100-16A>T) c.650-16A>T (n.650-16A>T) c.4001-16A>T (n.4001-16A>T) c.4097-16A>T (n.4097-16A>T) c.3947-16A>T (n.3947-16A>T) | |
5 | g.128333051C>A | CA2561567355 | FBN2 | n.884-17G>T n.965-17G>T c.4100-17G>T (n.4100-17G>T) c.650-17G>T (n.650-17G>T) c.4001-17G>T (n.4001-17G>T) c.4097-17G>T (n.4097-17G>T) c.3947-17G>T (n.3947-17G>T) | gnomAD v4 |
5 | g.128333052A>G | CA2768335730 | FBN2 | n.884-18T>C n.965-18T>C c.4100-18T>C (n.4100-18T>C) c.650-18T>C (n.650-18T>C) c.4001-18T>C (n.4001-18T>C) c.4097-18T>C (n.4097-18T>C) c.3947-18T>C (n.3947-18T>C) | |
5 | g.128333053T>A | CA3395052 | FBN2 | n.884-19A>T n.965-19A>T c.4100-19A>T (n.4100-19A>T) c.650-19A>T (n.650-19A>T) c.4001-19A>T (n.4001-19A>T) c.4097-19A>T (n.4097-19A>T) c.3947-19A>T (n.3947-19A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333053T>C | CA127007025 | FBN2 | n.884-19A>G n.965-19A>G c.4100-19A>G (n.4100-19A>G) c.650-19A>G (n.650-19A>G) c.4001-19A>G (n.4001-19A>G) c.4097-19A>G (n.4097-19A>G) c.3947-19A>G (n.3947-19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333053T= | CA1581268425 | FBN2 | n.884-19A= n.965-19A= c.4100-19A= (n.4100-19A=) c.650-19A= (n.650-19A=) c.4001-19A= (n.4001-19A=) c.4097-19A= (n.4097-19A=) c.3947-19A= (n.3947-19A=) | |
5 | g.128333054A= | CA1581268426 | FBN2 | n.884-20T= n.965-20T= c.4100-20T= (n.4100-20T=) c.650-20T= (n.650-20T=) c.4001-20T= (n.4001-20T=) c.4097-20T= (n.4097-20T=) c.3947-20T= (n.3947-20T=) | |
5 | g.128333054A>G | CA3395053 | FBN2 | n.884-20T>C n.965-20T>C c.4100-20T>C (n.4100-20T>C) c.650-20T>C (n.650-20T>C) c.4001-20T>C (n.4001-20T>C) c.4097-20T>C (n.4097-20T>C) c.3947-20T>C (n.3947-20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128333054A>T | CA2675116771 | FBN2 | n.884-20T>A n.965-20T>A c.4100-20T>A (n.4100-20T>A) c.650-20T>A (n.650-20T>A) c.4001-20T>A (n.4001-20T>A) c.4097-20T>A (n.4097-20T>A) c.3947-20T>A (n.3947-20T>A) | gnomAD v4 |
5 | g.128333059_128333061del | CA2578396272 | FBN2 | n.884-22_884-20del n.965-22_965-20del c.4100-22_4100-20del (n.4100-22_4100-20del) c.650-22_650-20del (n.650-22_650-20del) c.4001-22_4001-20del (n.4001-22_4001-20del) c.4097-22_4097-20del (n.4097-22_4097-20del) c.3947-22_3947-20del (n.3947-22_3947-20del) | |
5 | g.128333055A= | CA1581268427 | FBN2 | n.884-21T= n.965-21T= c.4100-21T= (n.4100-21T=) c.650-21T= (n.650-21T=) c.4001-21T= (n.4001-21T=) c.4097-21T= (n.4097-21T=) c.3947-21T= (n.3947-21T=) | |
5 | g.128333055A>G | CA3395054 | FBN2 | n.884-21T>C n.965-21T>C c.4100-21T>C (n.4100-21T>C) c.650-21T>C (n.650-21T>C) c.4001-21T>C (n.4001-21T>C) c.4097-21T>C (n.4097-21T>C) c.3947-21T>C (n.3947-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128333056G>A | CA562714848 | FBN2 | n.884-22C>T n.965-22C>T c.4100-22C>T (n.4100-22C>T) c.650-22C>T (n.650-22C>T) c.4001-22C>T (n.4001-22C>T) c.4097-22C>T (n.4097-22C>T) c.3947-22C>T (n.3947-22C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128333056G>C | CA2768335731 | FBN2 | n.884-22C>G n.965-22C>G c.4100-22C>G (n.4100-22C>G) c.650-22C>G (n.650-22C>G) c.4001-22C>G (n.4001-22C>G) c.4097-22C>G (n.4097-22C>G) c.3947-22C>G (n.3947-22C>G) | |
5 | g.128333056G= | CA1581268428 | FBN2 | n.884-22C= n.965-22C= c.4100-22C= (n.4100-22C=) c.650-22C= (n.650-22C=) c.4001-22C= (n.4001-22C=) c.4097-22C= (n.4097-22C=) c.3947-22C= (n.3947-22C=) | |
5 | g.128333057A= | CA1581268429 | FBN2 | n.884-23T= n.965-23T= c.4100-23T= (n.4100-23T=) c.650-23T= (n.650-23T=) c.4001-23T= (n.4001-23T=) c.4097-23T= (n.4097-23T=) c.3947-23T= (n.3947-23T=) | |
5 | g.128333057A>G | CA1581268430 | FBN2 | n.884-23T>C n.965-23T>C c.4100-23T>C (n.4100-23T>C) c.650-23T>C (n.650-23T>C) c.4001-23T>C (n.4001-23T>C) c.4097-23T>C (n.4097-23T>C) c.3947-23T>C (n.3947-23T>C) | dbSNP |