Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128332910A>C | CA360754550 | FBN2 | n.1006+2T>G n.1087+2T>G c.4222+2T>G (n.4222+2T>G) c.772+2T>G (n.772+2T>G) c.4123+2T>G (n.4123+2T>G) c.4219+2T>G (n.4219+2T>G) c.4069+2T>G (n.4069+2T>G) | |
5 | g.128332910A>G | CA360754547 | FBN2 | n.1006+2T>C n.1087+2T>C c.4222+2T>C (n.4222+2T>C) c.772+2T>C (n.772+2T>C) c.4123+2T>C (n.4123+2T>C) c.4219+2T>C (n.4219+2T>C) c.4069+2T>C (n.4069+2T>C) | |
5 | g.128332910A>T | CA360754549 | FBN2 | n.1006+2T>A n.1087+2T>A c.4222+2T>A (n.4222+2T>A) c.772+2T>A (n.772+2T>A) c.4123+2T>A (n.4123+2T>A) c.4219+2T>A (n.4219+2T>A) c.4069+2T>A (n.4069+2T>A) | |
5 | g.128332911C>A | CA360754552 | FBN2 | n.1006+1G>T n.1087+1G>T c.4222+1G>T (n.4222+1G>T) c.772+1G>T (n.772+1G>T) c.4123+1G>T (n.4123+1G>T) c.4219+1G>T (n.4219+1G>T) c.4069+1G>T (n.4069+1G>T) | |
5 | g.128332911C= | CA1581268375 | FBN2 | n.1006+1G= n.1087+1G= c.4222+1G= (n.4222+1G=) c.772+1G= (n.772+1G=) c.4123+1G= (n.4123+1G=) c.4219+1G= (n.4219+1G=) c.4069+1G= (n.4069+1G=) | |
5 | g.128332911C>G | CA360754554 | FBN2 | n.1006+1G>C n.1087+1G>C c.4222+1G>C (n.4222+1G>C) c.772+1G>C (n.772+1G>C) c.4123+1G>C (n.4123+1G>C) c.4219+1G>C (n.4219+1G>C) c.4069+1G>C (n.4069+1G>C) | |
5 | g.128332911C>T | CA16611716 | FBN2 | n.1006+1G>A n.1087+1G>A c.4222+1G>A (n.4222+1G>A) c.772+1G>A (n.772+1G>A) c.4123+1G>A (n.4123+1G>A) c.4219+1G>A (n.4219+1G>A) c.4069+1G>A (n.4069+1G>A) | ClinVar dbSNP |
5 | g.128332912C>A | CA360754559 | FBN2 | n.1006G>T n.1087G>T c.4222G>T (p.Asp1408Tyr) c.772G>T (p.Asp258Tyr) c.4123G>T (p.Asp1375Tyr) c.4219G>T (p.Asp1407Tyr) c.4069G>T (p.Asp1357Tyr) | |
5 | g.128332912C>G | CA360754562 | FBN2 | n.1006G>C n.1087G>C c.4222G>C (p.Asp1408His) c.772G>C (p.Asp258His) c.4123G>C (p.Asp1375His) c.4219G>C (p.Asp1407His) c.4069G>C (p.Asp1357His) | |
5 | g.128332912C>T | CA360754566 | FBN2 | n.1006G>A n.1087G>A c.4222G>A (p.Asp1408Asn) c.772G>A (p.Asp258Asn) c.4123G>A (p.Asp1375Asn) c.4219G>A (p.Asp1407Asn) c.4069G>A (p.Asp1357Asn) | ClinVar |
5 | g.128332913A>C | CA360754569 | FBN2 | n.1005T>G n.1086T>G c.4221T>G (p.Ile1407Met) c.771T>G (p.Ile257Met) c.4122T>G (p.Ile1374Met) c.4218T>G (p.Ile1406Met) c.4068T>G (p.Ile1356Met) | |
5 | g.128332913A>G | CA446309407 | FBN2 | n.1005T>C n.1086T>C c.4221T>C (p.Ile1407=) c.771T>C (p.Ile257=) c.4122T>C (p.Ile1374=) c.4218T>C (p.Ile1406=) c.4068T>C (p.Ile1356=) | |
5 | g.128332913A>T | CA446309409 | FBN2 | n.1005T>A n.1086T>A c.4221T>A (p.Ile1407=) c.771T>A (p.Ile257=) c.4122T>A (p.Ile1374=) c.4218T>A (p.Ile1406=) c.4068T>A (p.Ile1356=) | |
5 | g.128332914A>C | CA360754573 | FBN2 | n.1004T>G n.1085T>G c.4220T>G (p.Ile1407Ser) c.770T>G (p.Ile257Ser) c.4121T>G (p.Ile1374Ser) c.4217T>G (p.Ile1406Ser) c.4067T>G (p.Ile1356Ser) | |
5 | g.128332914A>G | CA360754576 | FBN2 | n.1004T>C n.1085T>C c.4220T>C (p.Ile1407Thr) c.770T>C (p.Ile257Thr) c.4121T>C (p.Ile1374Thr) c.4217T>C (p.Ile1406Thr) c.4067T>C (p.Ile1356Thr) | gnomAD v4 |
5 | g.128332914A>T | CA360754579 | FBN2 | n.1004T>A n.1085T>A c.4220T>A (p.Ile1407Asn) c.770T>A (p.Ile257Asn) c.4121T>A (p.Ile1374Asn) c.4217T>A (p.Ile1406Asn) c.4067T>A (p.Ile1356Asn) | |
5 | g.128332915T>A | CA360754587 | FBN2 | n.1003A>T n.1084A>T c.4219A>T (p.Ile1407Phe) c.769A>T (p.Ile257Phe) c.4120A>T (p.Ile1374Phe) c.4216A>T (p.Ile1406Phe) c.4066A>T (p.Ile1356Phe) | |
5 | g.128332915T>C | CA360754586 | FBN2 | n.1003A>G n.1084A>G c.4219A>G (p.Ile1407Val) c.769A>G (p.Ile257Val) c.4120A>G (p.Ile1374Val) c.4216A>G (p.Ile1406Val) c.4066A>G (p.Ile1356Val) | dbSNP |
5 | g.128332915T>G | CA360754582 | FBN2 | n.1003A>C n.1084A>C c.4219A>C (p.Ile1407Leu) c.769A>C (p.Ile257Leu) c.4120A>C (p.Ile1374Leu) c.4216A>C (p.Ile1406Leu) c.4066A>C (p.Ile1356Leu) | |
5 | g.128332915T= | CA1581268376 | FBN2 | n.1003A= n.1084A= c.4219A= (p.Ile1407=) c.769A= (p.Ile257=) c.4120A= (p.Ile1374=) c.4216A= (p.Ile1406=) c.4066A= (p.Ile1356=) | |
5 | g.128332916A>C | CA360754591 | FBN2 | n.1002T>G n.1083T>G c.4218T>G (p.Cys1406Trp) c.768T>G (p.Cys256Trp) c.4119T>G (p.Cys1373Trp) c.4215T>G (p.Cys1405Trp) c.4065T>G (p.Cys1355Trp) | |
5 | g.128332916A>G | CA446309413 | FBN2 | n.1002T>C n.1083T>C c.4218T>C (p.Cys1406=) c.768T>C (p.Cys256=) c.4119T>C (p.Cys1373=) c.4215T>C (p.Cys1405=) c.4065T>C (p.Cys1355=) | ClinVar |
5 | g.128332916A>T | CA360754595 | FBN2 | n.1002T>A n.1083T>A c.4218T>A (p.Cys1406Ter) c.768T>A (p.Cys256Ter) c.4119T>A (p.Cys1373Ter) c.4215T>A (p.Cys1405Ter) c.4065T>A (p.Cys1355Ter) | |
5 | g.128332917C>A | CA360754599 | FBN2 | n.1001G>T n.1082G>T c.4217G>T (p.Cys1406Phe) c.767G>T (p.Cys256Phe) c.4118G>T (p.Cys1373Phe) c.4214G>T (p.Cys1405Phe) c.4064G>T (p.Cys1355Phe) | |
5 | g.128332917C>G | CA360754601 | FBN2 | n.1001G>C n.1082G>C c.4217G>C (p.Cys1406Ser) c.767G>C (p.Cys256Ser) c.4118G>C (p.Cys1373Ser) c.4214G>C (p.Cys1405Ser) c.4064G>C (p.Cys1355Ser) | |
5 | g.128332917C>T | CA360754603 | FBN2 | n.1001G>A n.1082G>A c.4217G>A (p.Cys1406Tyr) c.767G>A (p.Cys256Tyr) c.4118G>A (p.Cys1373Tyr) c.4214G>A (p.Cys1405Tyr) c.4064G>A (p.Cys1355Tyr) | |
5 | g.128332918A>C | CA360754605 | FBN2 | n.1000T>G n.1081T>G c.4216T>G (p.Cys1406Gly) c.766T>G (p.Cys256Gly) c.4117T>G (p.Cys1373Gly) c.4213T>G (p.Cys1405Gly) c.4063T>G (p.Cys1355Gly) | |
5 | g.128332918A>G | CA360754606 | FBN2 | n.1000T>C n.1081T>C c.4216T>C (p.Cys1406Arg) c.766T>C (p.Cys256Arg) c.4117T>C (p.Cys1373Arg) c.4213T>C (p.Cys1405Arg) c.4063T>C (p.Cys1355Arg) | |
5 | g.128332918A>T | CA360754612 | FBN2 | n.1000T>A n.1081T>A c.4216T>A (p.Cys1406Ser) c.766T>A (p.Cys256Ser) c.4117T>A (p.Cys1373Ser) c.4213T>A (p.Cys1405Ser) c.4063T>A (p.Cys1355Ser) | |
5 | g.128332919C>A | CA360754613 | FBN2 | n.999G>T n.1080G>T c.4215G>T (p.Lys1405Asn) c.765G>T (p.Lys255Asn) c.4116G>T (p.Lys1372Asn) c.4212G>T (p.Lys1404Asn) c.4062G>T (p.Lys1354Asn) | |
5 | g.128332919C= | CA1581268377 | FBN2 | n.999G= n.1080G= c.4215G= (p.Lys1405=) c.765G= (p.Lys255=) c.4116G= (p.Lys1372=) c.4212G= (p.Lys1404=) c.4062G= (p.Lys1354=) | |
5 | g.128332919C>G | CA360754615 | FBN2 | n.999G>C n.1080G>C c.4215G>C (p.Lys1405Asn) c.765G>C (p.Lys255Asn) c.4116G>C (p.Lys1372Asn) c.4212G>C (p.Lys1404Asn) c.4062G>C (p.Lys1354Asn) | |
5 | g.128332919C>T | CA446309417 | FBN2 | n.999G>A n.1080G>A c.4215G>A (p.Lys1405=) c.765G>A (p.Lys255=) c.4116G>A (p.Lys1372=) c.4212G>A (p.Lys1404=) c.4062G>A (p.Lys1354=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128332920T>A | CA360754619 | FBN2 | n.998A>T n.1079A>T c.4214A>T (p.Lys1405Met) c.764A>T (p.Lys255Met) c.4115A>T (p.Lys1372Met) c.4211A>T (p.Lys1404Met) c.4061A>T (p.Lys1354Met) | gnomAD v4 |
5 | g.128332920T>C | CA360754621 | FBN2 | n.998A>G n.1079A>G c.4214A>G (p.Lys1405Arg) c.764A>G (p.Lys255Arg) c.4115A>G (p.Lys1372Arg) c.4211A>G (p.Lys1404Arg) c.4061A>G (p.Lys1354Arg) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128332920T>G | CA360754623 | FBN2 | n.998A>C n.1079A>C c.4214A>C (p.Lys1405Thr) c.764A>C (p.Lys255Thr) c.4115A>C (p.Lys1372Thr) c.4211A>C (p.Lys1404Thr) c.4061A>C (p.Lys1354Thr) | |
5 | g.128332920T= | CA1581268378 | FBN2 | n.998A= n.1079A= c.4214A= (p.Lys1405=) c.764A= (p.Lys255=) c.4115A= (p.Lys1372=) c.4211A= (p.Lys1404=) c.4061A= (p.Lys1354=) | |
5 | g.128332921T>A | CA360754629 | FBN2 | n.997A>T n.1078A>T c.4213A>T (p.Lys1405Ter) c.763A>T (p.Lys255Ter) c.4114A>T (p.Lys1372Ter) c.4210A>T (p.Lys1404Ter) c.4060A>T (p.Lys1354Ter) | |
5 | g.128332921T>C | CA360754632 | FBN2 | n.997A>G n.1078A>G c.4213A>G (p.Lys1405Glu) c.763A>G (p.Lys255Glu) c.4114A>G (p.Lys1372Glu) c.4210A>G (p.Lys1404Glu) c.4060A>G (p.Lys1354Glu) | |
5 | g.128332921T>G | CA3395038 | FBN2 | n.997A>C n.1078A>C c.4213A>C (p.Lys1405Gln) c.763A>C (p.Lys255Gln) c.4114A>C (p.Lys1372Gln) c.4210A>C (p.Lys1404Gln) c.4060A>C (p.Lys1354Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128332921T= | CA1581268379 | FBN2 | n.997A= n.1078A= c.4213A= (p.Lys1405=) c.763A= (p.Lys255=) c.4114A= (p.Lys1372=) c.4210A= (p.Lys1404=) c.4060A= (p.Lys1354=) | |
5 | g.128332922G>A | CA446309419 | FBN2 | n.996C>T n.1077C>T c.4212C>T (p.Ile1404=) c.762C>T (p.Ile254=) c.4113C>T (p.Ile1371=) c.4209C>T (p.Ile1403=) c.4059C>T (p.Ile1353=) | |
5 | g.128332922G>C | CA360754634 | FBN2 | n.996C>G n.1077C>G c.4212C>G (p.Ile1404Met) c.762C>G (p.Ile254Met) c.4113C>G (p.Ile1371Met) c.4209C>G (p.Ile1403Met) c.4059C>G (p.Ile1353Met) | |
5 | g.128332922G>T | CA446309422 | FBN2 | n.996C>A n.1077C>A c.4212C>A (p.Ile1404=) c.762C>A (p.Ile254=) c.4113C>A (p.Ile1371=) c.4209C>A (p.Ile1403=) c.4059C>A (p.Ile1353=) | |
5 | g.128332923A>C | CA360754639 | FBN2 | n.995T>G n.1076T>G c.4211T>G (p.Ile1404Ser) c.761T>G (p.Ile254Ser) c.4112T>G (p.Ile1371Ser) c.4208T>G (p.Ile1403Ser) c.4058T>G (p.Ile1353Ser) | COSMIC COSMIC |
5 | g.128332923A>G | CA360754642 | FBN2 | n.995T>C n.1076T>C c.4211T>C (p.Ile1404Thr) c.761T>C (p.Ile254Thr) c.4112T>C (p.Ile1371Thr) c.4208T>C (p.Ile1403Thr) c.4058T>C (p.Ile1353Thr) | |
5 | g.128332923A>T | CA360754644 | FBN2 | n.995T>A n.1076T>A c.4211T>A (p.Ile1404Asn) c.761T>A (p.Ile254Asn) c.4112T>A (p.Ile1371Asn) c.4208T>A (p.Ile1403Asn) c.4058T>A (p.Ile1353Asn) | |
5 | g.128332924T>A | CA360754648 | FBN2 | n.994A>T n.1075A>T c.4210A>T (p.Ile1404Phe) c.760A>T (p.Ile254Phe) c.4111A>T (p.Ile1371Phe) c.4207A>T (p.Ile1403Phe) c.4057A>T (p.Ile1353Phe) | |
5 | g.128332924T>C | CA360754652 | FBN2 | n.994A>G n.1075A>G c.4210A>G (p.Ile1404Val) c.760A>G (p.Ile254Val) c.4111A>G (p.Ile1371Val) c.4207A>G (p.Ile1403Val) c.4057A>G (p.Ile1353Val) | COSMIC COSMIC |
5 | g.128332924T>G | CA360754656 | FBN2 | n.994A>C n.1075A>C c.4210A>C (p.Ile1404Leu) c.760A>C (p.Ile254Leu) c.4111A>C (p.Ile1371Leu) c.4207A>C (p.Ile1403Leu) c.4057A>C (p.Ile1353Leu) | gnomAD v4 |
5 | g.128332925G>A | CA446309425 | FBN2 | n.993C>T n.1074C>T c.4209C>T (p.Gly1403=) c.759C>T (p.Gly253=) c.4110C>T (p.Gly1370=) c.4206C>T (p.Gly1402=) c.4056C>T (p.Gly1352=) | |
5 | g.128332925G>C | CA446309428 | FBN2 | n.993C>G n.1074C>G c.4209C>G (p.Gly1403=) c.759C>G (p.Gly253=) c.4110C>G (p.Gly1370=) c.4206C>G (p.Gly1402=) c.4056C>G (p.Gly1352=) | |
5 | g.128332925G>T | CA446309429 | FBN2 | n.993C>A n.1074C>A c.4209C>A (p.Gly1403=) c.759C>A (p.Gly253=) c.4110C>A (p.Gly1370=) c.4206C>A (p.Gly1402=) c.4056C>A (p.Gly1352=) | |
5 | g.128332926C>A | CA360754659 | FBN2 | n.992G>T n.1073G>T c.4208G>T (p.Gly1403Val) c.758G>T (p.Gly253Val) c.4109G>T (p.Gly1370Val) c.4205G>T (p.Gly1402Val) c.4055G>T (p.Gly1352Val) | |
5 | g.128332926C= | CA1581268380 | FBN2 | n.992G= n.1073G= c.4208G= (p.Gly1403=) c.758G= (p.Gly253=) c.4109G= (p.Gly1370=) c.4205G= (p.Gly1402=) c.4055G= (p.Gly1352=) | |
5 | g.128332926C>G | CA360754662 | FBN2 | n.992G>C n.1073G>C c.4208G>C (p.Gly1403Ala) c.758G>C (p.Gly253Ala) c.4109G>C (p.Gly1370Ala) c.4205G>C (p.Gly1402Ala) c.4055G>C (p.Gly1352Ala) | |
5 | g.128332926C>T | CA3395039 | FBN2 | n.992G>A n.1073G>A c.4208G>A (p.Gly1403Asp) c.758G>A (p.Gly253Asp) c.4109G>A (p.Gly1370Asp) c.4205G>A (p.Gly1402Asp) c.4055G>A (p.Gly1352Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128332927C>A | CA360754667 | FBN2 | n.991G>T n.1072G>T c.4207G>T (p.Gly1403Cys) c.757G>T (p.Gly253Cys) c.4108G>T (p.Gly1370Cys) c.4204G>T (p.Gly1402Cys) c.4054G>T (p.Gly1352Cys) | |
5 | g.128332927C= | CA1581268381 | FBN2 | n.991G= n.1072G= c.4207G= (p.Gly1403=) c.757G= (p.Gly253=) c.4108G= (p.Gly1370=) c.4204G= (p.Gly1402=) c.4054G= (p.Gly1352=) | |
5 | g.128332927C>G | CA127006943 | FBN2 | n.991G>C n.1072G>C c.4207G>C (p.Gly1403Arg) c.757G>C (p.Gly253Arg) c.4108G>C (p.Gly1370Arg) c.4204G>C (p.Gly1402Arg) c.4054G>C (p.Gly1352Arg) | dbSNP gnomAD v4 |
5 | g.128332927C>T | CA3395040 | FBN2 | n.991G>A n.1072G>A c.4207G>A (p.Gly1403Ser) c.757G>A (p.Gly253Ser) c.4108G>A (p.Gly1370Ser) c.4204G>A (p.Gly1402Ser) c.4054G>A (p.Gly1352Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332928G>A | CA288824 | FBN2 | n.990C>T n.1071C>T c.4206C>T (p.Asn1402=) c.756C>T (p.Asn252=) c.4107C>T (p.Asn1369=) c.4203C>T (p.Asn1401=) c.4053C>T (p.Asn1351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332928G>C | CA360754677 | FBN2 | n.990C>G n.1071C>G c.4206C>G (p.Asn1402Lys) c.756C>G (p.Asn252Lys) c.4107C>G (p.Asn1369Lys) c.4203C>G (p.Asn1401Lys) c.4053C>G (p.Asn1351Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128332928G= | CA1581268382 | FBN2 | n.990C= n.1071C= c.4206C= (p.Asn1402=) c.756C= (p.Asn252=) c.4107C= (p.Asn1369=) c.4203C= (p.Asn1401=) c.4053C= (p.Asn1351=) | |
5 | g.128332928G>T | CA3395041 | FBN2 | n.990C>A n.1071C>A c.4206C>A (p.Asn1402Lys) c.756C>A (p.Asn252Lys) c.4107C>A (p.Asn1369Lys) c.4203C>A (p.Asn1401Lys) c.4053C>A (p.Asn1351Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332929T>A | CA360754680 | FBN2 | n.989A>T n.1070A>T c.4205A>T (p.Asn1402Ile) c.755A>T (p.Asn252Ile) c.4106A>T (p.Asn1369Ile) c.4202A>T (p.Asn1401Ile) c.4052A>T (p.Asn1351Ile) | |
5 | g.128332929T>C | CA360754682 | FBN2 | n.989A>G n.1070A>G c.4205A>G (p.Asn1402Ser) c.755A>G (p.Asn252Ser) c.4106A>G (p.Asn1369Ser) c.4202A>G (p.Asn1401Ser) c.4052A>G (p.Asn1351Ser) | |
5 | g.128332929T>G | CA360754684 | FBN2 | n.989A>C n.1070A>C c.4205A>C (p.Asn1402Thr) c.755A>C (p.Asn252Thr) c.4106A>C (p.Asn1369Thr) c.4202A>C (p.Asn1401Thr) c.4052A>C (p.Asn1351Thr) | |
5 | g.128332930T>A | CA360754690 | FBN2 | n.988A>T n.1069A>T c.4204A>T (p.Asn1402Tyr) c.754A>T (p.Asn252Tyr) c.4105A>T (p.Asn1369Tyr) c.4201A>T (p.Asn1401Tyr) c.4051A>T (p.Asn1351Tyr) | |
5 | g.128332930T>C | CA360754691 | FBN2 | n.988A>G n.1069A>G c.4204A>G (p.Asn1402Asp) c.754A>G (p.Asn252Asp) c.4105A>G (p.Asn1369Asp) c.4201A>G (p.Asn1401Asp) c.4051A>G (p.Asn1351Asp) | |
5 | g.128332930T>G | CA360754694 | FBN2 | n.988A>C n.1069A>C c.4204A>C (p.Asn1402His) c.754A>C (p.Asn252His) c.4105A>C (p.Asn1369His) c.4201A>C (p.Asn1401His) c.4051A>C (p.Asn1351His) | |
5 | g.128332931T>A | CA446309438 | FBN2 | n.987A>T n.1068A>T c.4203A>T (p.Gly1401=) c.753A>T (p.Gly251=) c.4104A>T (p.Gly1368=) c.4200A>T (p.Gly1400=) c.4050A>T (p.Gly1350=) | |
5 | g.128332931T>C | CA446309437 | FBN2 | n.987A>G n.1068A>G c.4203A>G (p.Gly1401=) c.753A>G (p.Gly251=) c.4104A>G (p.Gly1368=) c.4200A>G (p.Gly1400=) c.4050A>G (p.Gly1350=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128332931T>G | CA446309436 | FBN2 | n.987A>C n.1068A>C c.4203A>C (p.Gly1401=) c.753A>C (p.Gly251=) c.4104A>C (p.Gly1368=) c.4200A>C (p.Gly1400=) c.4050A>C (p.Gly1350=) | |
5 | g.128332931T= | CA1581268383 | FBN2 | n.987A= n.1068A= c.4203A= (p.Gly1401=) c.753A= (p.Gly251=) c.4104A= (p.Gly1368=) c.4200A= (p.Gly1400=) c.4050A= (p.Gly1350=) | |
5 | g.128332932C>A | CA360754696 | FBN2 | n.986G>T n.1067G>T c.4202G>T (p.Gly1401Val) c.752G>T (p.Gly251Val) c.4103G>T (p.Gly1368Val) c.4199G>T (p.Gly1400Val) c.4049G>T (p.Gly1350Val) | |
5 | g.128332932C>G | CA360754701 | FBN2 | n.986G>C n.1067G>C c.4202G>C (p.Gly1401Ala) c.752G>C (p.Gly251Ala) c.4103G>C (p.Gly1368Ala) c.4199G>C (p.Gly1400Ala) c.4049G>C (p.Gly1350Ala) | |
5 | g.128332932C>T | CA360754698 | FBN2 | n.986G>A n.1067G>A c.4202G>A (p.Gly1401Glu) c.752G>A (p.Gly251Glu) c.4103G>A (p.Gly1368Glu) c.4199G>A (p.Gly1400Glu) c.4049G>A (p.Gly1350Glu) | |
5 | g.128332933C>A | CA360754704 | FBN2 | n.985G>T n.1066G>T c.4201G>T (p.Gly1401Ter) c.751G>T (p.Gly251Ter) c.4102G>T (p.Gly1368Ter) c.4198G>T (p.Gly1400Ter) c.4048G>T (p.Gly1350Ter) | |
5 | g.128332933C= | CA1581268384 | FBN2 | n.985G= n.1066G= c.4201G= (p.Gly1401=) c.751G= (p.Gly251=) c.4102G= (p.Gly1368=) c.4198G= (p.Gly1400=) c.4048G= (p.Gly1350=) | |
5 | g.128332933C>G | CA360754706 | FBN2 | n.985G>C n.1066G>C c.4201G>C (p.Gly1401Arg) c.751G>C (p.Gly251Arg) c.4102G>C (p.Gly1368Arg) c.4198G>C (p.Gly1400Arg) c.4048G>C (p.Gly1350Arg) | ClinVar dbSNP |
5 | g.128332933C>T | CA360754709 | FBN2 | n.985G>A n.1066G>A c.4201G>A (p.Gly1401Arg) c.751G>A (p.Gly251Arg) c.4102G>A (p.Gly1368Arg) c.4198G>A (p.Gly1400Arg) c.4048G>A (p.Gly1350Arg) | ClinVar dbSNP gnomAD v4 |
5 | g.128332934A= | CA1581268385 | FBN2 | n.984T= n.1065T= c.4200T= (p.Ile1400=) c.750T= (p.Ile250=) c.4101T= (p.Ile1367=) c.4197T= (p.Ile1399=) c.4047T= (p.Ile1349=) | |
5 | g.128332934A>C | CA360754711 | FBN2 | n.984T>G n.1065T>G c.4200T>G (p.Ile1400Met) c.750T>G (p.Ile250Met) c.4101T>G (p.Ile1367Met) c.4197T>G (p.Ile1399Met) c.4047T>G (p.Ile1349Met) | gnomAD v4 |
5 | g.128332934A>G | CA446309442 | FBN2 | n.984T>C n.1065T>C c.4200T>C (p.Ile1400=) c.750T>C (p.Ile250=) c.4101T>C (p.Ile1367=) c.4197T>C (p.Ile1399=) c.4047T>C (p.Ile1349=) | dbSNP gnomAD v4 |
5 | g.128332934A>T | CA446309441 | FBN2 | n.984T>A n.1065T>A c.4200T>A (p.Ile1400=) c.750T>A (p.Ile250=) c.4101T>A (p.Ile1367=) c.4197T>A (p.Ile1399=) c.4047T>A (p.Ile1349=) | |
5 | g.128332935A>C | CA360754720 | FBN2 | n.983T>G n.1064T>G c.4199T>G (p.Ile1400Ser) c.749T>G (p.Ile250Ser) c.4100T>G (p.Ile1367Ser) c.4196T>G (p.Ile1399Ser) c.4046T>G (p.Ile1349Ser) | |
5 | g.128332935A>G | CA360754717 | FBN2 | n.983T>C n.1064T>C c.4199T>C (p.Ile1400Thr) c.749T>C (p.Ile250Thr) c.4100T>C (p.Ile1367Thr) c.4196T>C (p.Ile1399Thr) c.4046T>C (p.Ile1349Thr) | |
5 | g.128332935A>T | CA360754715 | FBN2 | n.983T>A n.1064T>A c.4199T>A (p.Ile1400Asn) c.749T>A (p.Ile250Asn) c.4100T>A (p.Ile1367Asn) c.4196T>A (p.Ile1399Asn) c.4046T>A (p.Ile1349Asn) | |
5 | g.128332936T>A | CA360754723 | FBN2 | n.982A>T n.1063A>T c.4198A>T (p.Ile1400Phe) c.748A>T (p.Ile250Phe) c.4099A>T (p.Ile1367Phe) c.4195A>T (p.Ile1399Phe) c.4045A>T (p.Ile1349Phe) | |
5 | g.128332936T>C | CA360754730 | FBN2 | n.982A>G n.1063A>G c.4198A>G (p.Ile1400Val) c.748A>G (p.Ile250Val) c.4099A>G (p.Ile1367Val) c.4195A>G (p.Ile1399Val) c.4045A>G (p.Ile1349Val) | ClinVar dbSNP gnomAD v4 |
5 | g.128332936T>G | CA360754732 | FBN2 | n.982A>C n.1063A>C c.4198A>C (p.Ile1400Leu) c.748A>C (p.Ile250Leu) c.4099A>C (p.Ile1367Leu) c.4195A>C (p.Ile1399Leu) c.4045A>C (p.Ile1349Leu) | |
5 | g.128332936T= | CA1581268386 | FBN2 | n.982A= n.1063A= c.4198A= (p.Ile1400=) c.748A= (p.Ile250=) c.4099A= (p.Ile1367=) c.4195A= (p.Ile1399=) c.4045A= (p.Ile1349=) | |
5 | g.128332937C>A | CA360754738 | FBN2 | n.981G>T n.1062G>T c.4197G>T (p.Trp1399Cys) c.747G>T (p.Trp249Cys) c.4098G>T (p.Trp1366Cys) c.4194G>T (p.Trp1398Cys) c.4044G>T (p.Trp1348Cys) | |
5 | g.128332937C>G | CA360754740 | FBN2 | n.981G>C n.1062G>C c.4197G>C (p.Trp1399Cys) c.747G>C (p.Trp249Cys) c.4098G>C (p.Trp1366Cys) c.4194G>C (p.Trp1398Cys) c.4044G>C (p.Trp1348Cys) | |
5 | g.128332937C>T | CA360754743 | FBN2 | n.981G>A n.1062G>A c.4197G>A (p.Trp1399Ter) c.747G>A (p.Trp249Ter) c.4098G>A (p.Trp1366Ter) c.4194G>A (p.Trp1398Ter) c.4044G>A (p.Trp1348Ter) | |
5 | g.128332938C>A | CA360754752 | FBN2 | n.980G>T n.1061G>T c.4196G>T (p.Trp1399Leu) c.746G>T (p.Trp249Leu) c.4097G>T (p.Trp1366Leu) c.4193G>T (p.Trp1398Leu) c.4043G>T (p.Trp1348Leu) | |
5 | g.128332938C>G | CA360754750 | FBN2 | n.980G>C n.1061G>C c.4196G>C (p.Trp1399Ser) c.746G>C (p.Trp249Ser) c.4097G>C (p.Trp1366Ser) c.4193G>C (p.Trp1398Ser) c.4043G>C (p.Trp1348Ser) | gnomAD v4 |
5 | g.128332938C>T | CA360754746 | FBN2 | n.980G>A n.1061G>A c.4196G>A (p.Trp1399Ter) c.746G>A (p.Trp249Ter) c.4097G>A (p.Trp1366Ter) c.4193G>A (p.Trp1398Ter) c.4043G>A (p.Trp1348Ter) | |
5 | g.128332939A>C | CA360754756 | FBN2 | n.979T>G n.1060T>G c.4195T>G (p.Trp1399Gly) c.745T>G (p.Trp249Gly) c.4096T>G (p.Trp1366Gly) c.4192T>G (p.Trp1398Gly) c.4042T>G (p.Trp1348Gly) | ClinVar |
5 | g.128332939A>G | CA360754759 | FBN2 | n.979T>C n.1060T>C c.4195T>C (p.Trp1399Arg) c.745T>C (p.Trp249Arg) c.4096T>C (p.Trp1366Arg) c.4192T>C (p.Trp1398Arg) c.4042T>C (p.Trp1348Arg) | |
5 | g.128332939A>T | CA360754762 | FBN2 | n.979T>A n.1060T>A c.4195T>A (p.Trp1399Arg) c.745T>A (p.Trp249Arg) c.4096T>A (p.Trp1366Arg) c.4192T>A (p.Trp1398Arg) c.4042T>A (p.Trp1348Arg) | |
5 | g.128332940G>A | CA446309451 | FBN2 | n.978C>T n.1059C>T c.4194C>T (p.Gly1398=) c.744C>T (p.Gly248=) c.4095C>T (p.Gly1365=) c.4191C>T (p.Gly1397=) c.4041C>T (p.Gly1347=) | gnomAD v4 |
5 | g.128332940G>C | CA446309452 | FBN2 | n.978C>G n.1059C>G c.4194C>G (p.Gly1398=) c.744C>G (p.Gly248=) c.4095C>G (p.Gly1365=) c.4191C>G (p.Gly1397=) c.4041C>G (p.Gly1347=) | dbSNP gnomAD v4 |
5 | g.128332940G= | CA1581268387 | FBN2 | n.978C= n.1059C= c.4194C= (p.Gly1398=) c.744C= (p.Gly248=) c.4095C= (p.Gly1365=) c.4191C= (p.Gly1397=) c.4041C= (p.Gly1347=) | |
5 | g.128332940G>T | CA446309453 | FBN2 | n.978C>A n.1059C>A c.4194C>A (p.Gly1398=) c.744C>A (p.Gly248=) c.4095C>A (p.Gly1365=) c.4191C>A (p.Gly1397=) c.4041C>A (p.Gly1347=) | |
5 | g.128332941C>A | CA360754765 | FBN2 | n.977G>T n.1058G>T c.4193G>T (p.Gly1398Val) c.743G>T (p.Gly248Val) c.4094G>T (p.Gly1365Val) c.4190G>T (p.Gly1397Val) c.4040G>T (p.Gly1347Val) | ClinVar dbSNP gnomAD v4 |
5 | g.128332941C>G | CA360754768 | FBN2 | n.977G>C n.1058G>C c.4193G>C (p.Gly1398Ala) c.743G>C (p.Gly248Ala) c.4094G>C (p.Gly1365Ala) c.4190G>C (p.Gly1397Ala) c.4040G>C (p.Gly1347Ala) | |
5 | g.128332941C>T | CA360754772 | FBN2 | n.977G>A n.1058G>A c.4193G>A (p.Gly1398Asp) c.743G>A (p.Gly248Asp) c.4094G>A (p.Gly1365Asp) c.4190G>A (p.Gly1397Asp) c.4040G>A (p.Gly1347Asp) | |
5 | g.128332941_128332942delinsTT | CA645546434 | FBN2 | n.976_977delinsAA n.1057_1058delinsAA c.4192_4193delinsAA (p.Gly1398Asn) c.742_743delinsAA (p.Gly248Asn) c.4093_4094delinsAA (p.Gly1365Asn) c.4189_4190delinsAA (p.Gly1397Asn) c.4039_4040delinsAA (p.Gly1347Asn) | COSMIC COSMIC |
5 | g.128332942C>A | CA360754775 | FBN2 | n.976G>T n.1057G>T c.4192G>T (p.Gly1398Cys) c.742G>T (p.Gly248Cys) c.4093G>T (p.Gly1365Cys) c.4189G>T (p.Gly1397Cys) c.4039G>T (p.Gly1347Cys) | |
5 | g.128332942C>G | CA360754782 | FBN2 | n.976G>C n.1057G>C c.4192G>C (p.Gly1398Arg) c.742G>C (p.Gly248Arg) c.4093G>C (p.Gly1365Arg) c.4189G>C (p.Gly1397Arg) c.4039G>C (p.Gly1347Arg) | |
5 | g.128332942C>T | CA360754778 | FBN2 | n.976G>A n.1057G>A c.4192G>A (p.Gly1398Ser) c.742G>A (p.Gly248Ser) c.4093G>A (p.Gly1365Ser) c.4189G>A (p.Gly1397Ser) c.4039G>A (p.Gly1347Ser) | |
5 | g.128332943T>A | CA360754785 | FBN2 | n.975A>T n.1056A>T c.4191A>T (p.Glu1397Asp) c.741A>T (p.Glu247Asp) c.4092A>T (p.Glu1364Asp) c.4188A>T (p.Glu1396Asp) c.4038A>T (p.Glu1346Asp) | |
5 | g.128332943T>C | CA3395042 | FBN2 | n.975A>G n.1056A>G c.4191A>G (p.Glu1397=) c.741A>G (p.Glu247=) c.4092A>G (p.Glu1364=) c.4188A>G (p.Glu1396=) c.4038A>G (p.Glu1346=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128332943T>G | CA360754791 | FBN2 | n.975A>C n.1056A>C c.4191A>C (p.Glu1397Asp) c.741A>C (p.Glu247Asp) c.4092A>C (p.Glu1364Asp) c.4188A>C (p.Glu1396Asp) c.4038A>C (p.Glu1346Asp) | |
5 | g.128332943T= | CA1581268388 | FBN2 | n.975A= n.1056A= c.4191A= (p.Glu1397=) c.741A= (p.Glu247=) c.4092A= (p.Glu1364=) c.4188A= (p.Glu1396=) c.4038A= (p.Glu1346=) | |
5 | g.128332944T>A | CA360754794 | FBN2 | n.974A>T n.1055A>T c.4190A>T (p.Glu1397Val) c.740A>T (p.Glu247Val) c.4091A>T (p.Glu1364Val) c.4187A>T (p.Glu1396Val) c.4037A>T (p.Glu1346Val) | |
5 | g.128332944T>C | CA360754796 | FBN2 | n.974A>G n.1055A>G c.4190A>G (p.Glu1397Gly) c.740A>G (p.Glu247Gly) c.4091A>G (p.Glu1364Gly) c.4187A>G (p.Glu1396Gly) c.4037A>G (p.Glu1346Gly) | |
5 | g.128332944T>G | CA360754799 | FBN2 | n.974A>C n.1055A>C c.4190A>C (p.Glu1397Ala) c.740A>C (p.Glu247Ala) c.4091A>C (p.Glu1364Ala) c.4187A>C (p.Glu1396Ala) c.4037A>C (p.Glu1346Ala) | |
5 | g.128332945C>A | CA360754804 | FBN2 | n.973G>T n.1054G>T c.4189G>T (p.Glu1397Ter) c.739G>T (p.Glu247Ter) c.4090G>T (p.Glu1364Ter) c.4186G>T (p.Glu1396Ter) c.4036G>T (p.Glu1346Ter) | |
5 | g.128332945C>G | CA360754806 | FBN2 | n.973G>C n.1054G>C c.4189G>C (p.Glu1397Gln) c.739G>C (p.Glu247Gln) c.4090G>C (p.Glu1364Gln) c.4186G>C (p.Glu1396Gln) c.4036G>C (p.Glu1346Gln) | |
5 | g.128332945C>T | CA360754807 | FBN2 | n.973G>A n.1054G>A c.4189G>A (p.Glu1397Lys) c.739G>A (p.Glu247Lys) c.4090G>A (p.Glu1364Lys) c.4186G>A (p.Glu1396Lys) c.4036G>A (p.Glu1346Lys) | gnomAD v4 |
5 | g.128332946T>A | CA360754809 | FBN2 | n.972A>T n.1053A>T c.4188A>T (p.Arg1396Ser) c.738A>T (p.Arg246Ser) c.4089A>T (p.Arg1363Ser) c.4185A>T (p.Arg1395Ser) c.4035A>T (p.Arg1345Ser) | |
5 | g.128332946T>C | CA446309457 | FBN2 | n.972A>G n.1053A>G c.4188A>G (p.Arg1396=) c.738A>G (p.Arg246=) c.4089A>G (p.Arg1363=) c.4185A>G (p.Arg1395=) c.4035A>G (p.Arg1345=) | |
5 | g.128332946T>G | CA360754812 | FBN2 | n.972A>C n.1053A>C c.4188A>C (p.Arg1396Ser) c.738A>C (p.Arg246Ser) c.4089A>C (p.Arg1363Ser) c.4185A>C (p.Arg1395Ser) c.4035A>C (p.Arg1345Ser) | |
5 | g.128332947C>A | CA360754816 | FBN2 | n.971G>T n.1052G>T c.4187G>T (p.Arg1396Ile) c.737G>T (p.Arg246Ile) c.4088G>T (p.Arg1363Ile) c.4184G>T (p.Arg1395Ile) c.4034G>T (p.Arg1345Ile) | |
5 | g.128332947C>G | CA360754820 | FBN2 | n.971G>C n.1052G>C c.4187G>C (p.Arg1396Thr) c.737G>C (p.Arg246Thr) c.4088G>C (p.Arg1363Thr) c.4184G>C (p.Arg1395Thr) c.4034G>C (p.Arg1345Thr) | |
5 | g.128332947C>T | CA360754817 | FBN2 | n.971G>A n.1052G>A c.4187G>A (p.Arg1396Lys) c.737G>A (p.Arg246Lys) c.4088G>A (p.Arg1363Lys) c.4184G>A (p.Arg1395Lys) c.4034G>A (p.Arg1345Lys) | |
5 | g.128332948T>A | CA360754825 | FBN2 | n.970A>T n.1051A>T c.4186A>T (p.Arg1396Ter) c.736A>T (p.Arg246Ter) c.4087A>T (p.Arg1363Ter) c.4183A>T (p.Arg1395Ter) c.4033A>T (p.Arg1345Ter) | |
5 | g.128332948T>C | CA3395043 | FBN2 | n.970A>G n.1051A>G c.4186A>G (p.Arg1396Gly) c.736A>G (p.Arg246Gly) c.4087A>G (p.Arg1363Gly) c.4183A>G (p.Arg1395Gly) c.4033A>G (p.Arg1345Gly) | dbSNP ExAC gnomAD v2 |
5 | g.128332948T>G | CA446309463 | FBN2 | n.970A>C n.1051A>C c.4186A>C (p.Arg1396=) c.736A>C (p.Arg246=) c.4087A>C (p.Arg1363=) c.4183A>C (p.Arg1395=) c.4033A>C (p.Arg1345=) | |
5 | g.128332948T= | CA1581268389 | FBN2 | n.970A= n.1051A= c.4186A= (p.Arg1396=) c.736A= (p.Arg246=) c.4087A= (p.Arg1363=) c.4183A= (p.Arg1395=) c.4033A= (p.Arg1345=) | |
5 | g.128332949G>A | CA446309464 | FBN2 | n.969C>T n.1050C>T c.4185C>T (p.Cys1395=) c.735C>T (p.Cys245=) c.4086C>T (p.Cys1362=) c.4182C>T (p.Cys1394=) c.4032C>T (p.Cys1344=) | |
5 | g.128332949G>C | CA360754834 | FBN2 | n.969C>G n.1050C>G c.4185C>G (p.Cys1395Trp) c.735C>G (p.Cys245Trp) c.4086C>G (p.Cys1362Trp) c.4182C>G (p.Cys1394Trp) c.4032C>G (p.Cys1344Trp) | |
5 | g.128332949G>T | CA360754836 | FBN2 | n.969C>A n.1050C>A c.4185C>A (p.Cys1395Ter) c.735C>A (p.Cys245Ter) c.4086C>A (p.Cys1362Ter) c.4182C>A (p.Cys1394Ter) c.4032C>A (p.Cys1344Ter) | |
5 | g.128332950C>A | CA10587612 | FBN2 | n.968G>T n.1049G>T c.4184G>T (p.Cys1395Phe) c.734G>T (p.Cys245Phe) c.4085G>T (p.Cys1362Phe) c.4181G>T (p.Cys1394Phe) c.4031G>T (p.Cys1344Phe) | ClinVar dbSNP |
5 | g.128332950C= | CA1581268390 | FBN2 | n.968G= n.1049G= c.4184G= (p.Cys1395=) c.734G= (p.Cys245=) c.4085G= (p.Cys1362=) c.4181G= (p.Cys1394=) c.4031G= (p.Cys1344=) | |
5 | g.128332950C>G | CA360754844 | FBN2 | n.968G>C n.1049G>C c.4184G>C (p.Cys1395Ser) c.734G>C (p.Cys245Ser) c.4085G>C (p.Cys1362Ser) c.4181G>C (p.Cys1394Ser) c.4031G>C (p.Cys1344Ser) | |
5 | g.128332950C>T | CA360754841 | FBN2 | n.968G>A n.1049G>A c.4184G>A (p.Cys1395Tyr) c.734G>A (p.Cys245Tyr) c.4085G>A (p.Cys1362Tyr) c.4181G>A (p.Cys1394Tyr) c.4031G>A (p.Cys1344Tyr) | ClinVar dbSNP |
5 | g.128332951A>C | CA360754846 | FBN2 | n.967T>G n.1048T>G c.4183T>G (p.Cys1395Gly) c.733T>G (p.Cys245Gly) c.4084T>G (p.Cys1362Gly) c.4180T>G (p.Cys1394Gly) c.4030T>G (p.Cys1344Gly) | |
5 | g.128332951A>G | CA360754850 | FBN2 | n.967T>C n.1048T>C c.4183T>C (p.Cys1395Arg) c.733T>C (p.Cys245Arg) c.4084T>C (p.Cys1362Arg) c.4180T>C (p.Cys1394Arg) c.4030T>C (p.Cys1344Arg) | |
5 | g.128332951A>T | CA360754848 | FBN2 | n.967T>A n.1048T>A c.4183T>A (p.Cys1395Ser) c.733T>A (p.Cys245Ser) c.4084T>A (p.Cys1362Ser) c.4180T>A (p.Cys1394Ser) c.4030T>A (p.Cys1344Ser) | |
5 | g.128332952G>A | CA446309469 | FBN2 | n.966C>T n.1047C>T c.4182C>T (p.Ser1394=) c.732C>T (p.Ser244=) c.4083C>T (p.Ser1361=) c.4179C>T (p.Ser1393=) c.4029C>T (p.Ser1343=) | |
5 | g.128332952G>C | CA360754854 | FBN2 | n.966C>G n.1047C>G c.4182C>G (p.Ser1394Arg) c.732C>G (p.Ser244Arg) c.4083C>G (p.Ser1361Arg) c.4179C>G (p.Ser1393Arg) c.4029C>G (p.Ser1343Arg) | |
5 | g.128332952G>T | CA360754857 | FBN2 | n.966C>A n.1047C>A c.4182C>A (p.Ser1394Arg) c.732C>A (p.Ser244Arg) c.4083C>A (p.Ser1361Arg) c.4179C>A (p.Ser1393Arg) c.4029C>A (p.Ser1343Arg) | |
5 | g.128332953C>A | CA360754861 | FBN2 | n.965G>T n.1046G>T c.4181G>T (p.Ser1394Ile) c.731G>T (p.Ser244Ile) c.4082G>T (p.Ser1361Ile) c.4178G>T (p.Ser1393Ile) c.4028G>T (p.Ser1343Ile) | gnomAD v4 |
5 | g.128332953C>G | CA360754863 | FBN2 | n.965G>C n.1046G>C c.4181G>C (p.Ser1394Thr) c.731G>C (p.Ser244Thr) c.4082G>C (p.Ser1361Thr) c.4178G>C (p.Ser1393Thr) c.4028G>C (p.Ser1343Thr) | |
5 | g.128332953C>T | CA360754869 | FBN2 | n.965G>A n.1046G>A c.4181G>A (p.Ser1394Asn) c.731G>A (p.Ser244Asn) c.4082G>A (p.Ser1361Asn) c.4178G>A (p.Ser1393Asn) c.4028G>A (p.Ser1343Asn) | COSMIC COSMIC |
5 | g.128332954T>A | CA360754874 | FBN2 | n.964A>T n.1045A>T c.4180A>T (p.Ser1394Cys) c.730A>T (p.Ser244Cys) c.4081A>T (p.Ser1361Cys) c.4177A>T (p.Ser1393Cys) c.4027A>T (p.Ser1343Cys) | |
5 | g.128332954T>C | CA360754876 | FBN2 | n.964A>G n.1045A>G c.4180A>G (p.Ser1394Gly) c.730A>G (p.Ser244Gly) c.4081A>G (p.Ser1361Gly) c.4177A>G (p.Ser1393Gly) c.4027A>G (p.Ser1343Gly) | |
5 | g.128332954T>G | CA360754880 | FBN2 | n.964A>C n.1045A>C c.4180A>C (p.Ser1394Arg) c.730A>C (p.Ser244Arg) c.4081A>C (p.Ser1361Arg) c.4177A>C (p.Ser1393Arg) c.4027A>C (p.Ser1343Arg) | ClinVar gnomAD v4 |
5 | g.128332955A= | CA1581268391 | FBN2 | n.963T= n.1044T= c.4179T= (p.Cys1393=) c.729T= (p.Cys243=) c.4080T= (p.Cys1360=) c.4176T= (p.Cys1392=) c.4026T= (p.Cys1342=) | |
5 | g.128332955A>C | CA360754882 | FBN2 | n.963T>G n.1044T>G c.4179T>G (p.Cys1393Trp) c.729T>G (p.Cys243Trp) c.4080T>G (p.Cys1360Trp) c.4176T>G (p.Cys1392Trp) c.4026T>G (p.Cys1342Trp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128332955A>G | CA446309475 | FBN2 | n.963T>C n.1044T>C c.4179T>C (p.Cys1393=) c.729T>C (p.Cys243=) c.4080T>C (p.Cys1360=) c.4176T>C (p.Cys1392=) c.4026T>C (p.Cys1342=) | |
5 | g.128332955A>T | CA360754884 | FBN2 | n.963T>A n.1044T>A c.4179T>A (p.Cys1393Ter) c.729T>A (p.Cys243Ter) c.4080T>A (p.Cys1360Ter) c.4176T>A (p.Cys1392Ter) c.4026T>A (p.Cys1342Ter) | |
5 | g.128332956C>A | CA360754889 | FBN2 | n.962G>T n.1043G>T c.4178G>T (p.Cys1393Phe) c.728G>T (p.Cys243Phe) c.4079G>T (p.Cys1360Phe) c.4175G>T (p.Cys1392Phe) c.4025G>T (p.Cys1342Phe) | |
5 | g.128332956C>G | CA360754891 | FBN2 | n.962G>C n.1043G>C c.4178G>C (p.Cys1393Ser) c.728G>C (p.Cys243Ser) c.4079G>C (p.Cys1360Ser) c.4175G>C (p.Cys1392Ser) c.4025G>C (p.Cys1342Ser) | |
5 | g.128332956C>T | CA360754895 | FBN2 | n.962G>A n.1043G>A c.4178G>A (p.Cys1393Tyr) c.728G>A (p.Cys243Tyr) c.4079G>A (p.Cys1360Tyr) c.4175G>A (p.Cys1392Tyr) c.4025G>A (p.Cys1342Tyr) | |
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) |