Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48474552T>A | CA392320450 | FBN1 | c.4063A>T (p.Ile1355Phe) n.2737A>T c.735A>T (p.Gly245=) | |
15 | g.48474552T>C | CA392320451 | FBN1 | c.4063A>G (p.Ile1355Val) n.2737A>G c.735A>G (p.Gly245=) | |
15 | g.48474552T>G | CA392320452 | FBN1 | c.4063A>C (p.Ile1355Leu) n.2737A>C c.735A>C (p.Gly245=) | |
15 | g.48474553C>A | CA392320453 | FBN1 | c.4062G>T (p.Trp1354Cys) n.2736G>T c.734G>T (p.Gly245Val) | |
15 | g.48474553C= | CA2175495937 | FBN1 | c.4062G= (p.Trp1354=) n.2736G= c.734G= (p.Gly245=) | |
15 | g.48474553C>G | CA392320454 | FBN1 | c.4062G>C (p.Trp1354Cys) n.2736G>C c.734G>C (p.Gly245Ala) | |
15 | g.48474553C>T | CA014736 | FBN1 | c.4062G>A (p.Trp1354Ter) n.2736G>A c.734G>A (p.Gly245Glu) | ClinVar dbSNP |
15 | g.48474554C>A | CA392320455 | FBN1 | c.4061G>T (p.Trp1354Leu) n.2735G>T c.733G>T (p.Gly245Ter) | |
15 | g.48474554C= | CA2175495942 | FBN1 | c.4061G= (p.Trp1354=) n.2735G= c.733G= (p.Gly245=) | |
15 | g.48474554C>G | CA392320456 | FBN1 | c.4061G>C (p.Trp1354Ser) n.2735G>C c.733G>C (p.Gly245Arg) | |
15 | g.48474554C>T | CA16614649 | FBN1 | c.4061G>A (p.Trp1354Ter) n.2735G>A c.733G>A (p.Gly245Arg) | ClinVar dbSNP |
15 | g.48474554_48474555delinsCA | CA2175495945 | FBN1 | c.4060_4061delinsTG (p.Trp1354=) n.2734_2735delinsTG c.732_733delinsTG (p.Gly244=) | |
15 | g.48474555del | CA658683885 | FBN1 | c.4060del (p.Trp1354GlyfsTer?) n.2734del c.732del (p.Gly245AspfsTer6) | ClinVar dbSNP |
15 | g.48474555A>C | CA392320457 | FBN1 | c.4060T>G (p.Trp1354Gly) n.2734T>G c.732T>G (p.Gly244=) | |
15 | g.48474555A>G | CA392320458 | FBN1 | c.4060T>C (p.Trp1354Arg) n.2734T>C c.732T>C (p.Gly244=) | |
15 | g.48474555A>T | CA392320459 | FBN1 | c.4060T>A (p.Trp1354Arg) n.2734T>A c.732T>A (p.Gly244=) | |
15 | g.48474556C>A | CA10587203 | FBN1 | c.4059G>T (p.Gly1353=) n.2733G>T c.731G>T (p.Gly244Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474556C= | CA2175495958 | FBN1 | c.4059G= (p.Gly1353=) n.2733G= c.731G= (p.Gly244=) | |
15 | g.48474556C>G | CA490015227 | FBN1 | c.4059G>C (p.Gly1353=) n.2733G>C c.731G>C (p.Gly244Ala) | |
15 | g.48474556C>T | CA490015228 | FBN1 | c.4059G>A (p.Gly1353=) n.2733G>A c.731G>A (p.Gly244Asp) | gnomAD v4 |
15 | g.48474556_48474561del | CA2695220638 | FBN1 | c.4054_4059del (p.Pro1352_Gly1353del) n.2728_2733del c.726_731del (p.Pro243_Gly244del) | |
15 | g.48474557C>A | CA392320462 | FBN1 | c.4058G>T (p.Gly1353Val) n.2732G>T c.730G>T (p.Gly244Cys) | |
15 | g.48474557C>G | CA392320460 | FBN1 | c.4058G>C (p.Gly1353Ala) n.2732G>C c.730G>C (p.Gly244Arg) | |
15 | g.48474557C>T | CA392320461 | FBN1 | c.4058G>A (p.Gly1353Glu) n.2732G>A c.730G>A (p.Gly244Ser) | |
15 | g.48474558C>A | CA051936 | FBN1 | c.4057G>T (p.Gly1353Trp) n.2731G>T c.729G>T (p.Pro243=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
15 | g.48474558C= | CA2175495976 | FBN1 | c.4057G= (p.Gly1353=) n.2731G= c.729G= (p.Pro243=) | |
15 | g.48474558C>G | CA392320463 | FBN1 | c.4057G>C (p.Gly1353Arg) n.2731G>C c.729G>C (p.Pro243=) | ClinVar dbSNP |
15 | g.48474558C>T | CA392320464 | FBN1 | c.4057G>A (p.Gly1353Arg) n.2731G>A c.729G>A (p.Pro243=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474558_48474559delinsCG | CA2175495978 | FBN1 | c.4056_4057delinsCG (p.Pro1352=) n.2730_2731delinsCG c.728_729delinsCG (p.Pro243=) | |
15 | g.48474558_48474559insTTTCTGTTAATAAT | CA2175495997 | FBN1 | c.4056_4057insATTATTAACAGAAA (p.Gly1353IlefsTer?) n.2730_2731insATTATTAACAGAAA c.728_729insATTATTAACAGAAA (p.Gly244LeufsTer12) | dbSNP |
15 | g.48474559G>A | CA051928 | FBN1 | c.4056C>T (p.Pro1352=) n.2730C>T c.728C>T (p.Pro243Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474559G>C | CA490015232 | FBN1 | c.4056C>G (p.Pro1352=) n.2730C>G c.728C>G (p.Pro243Arg) | |
15 | g.48474559G= | CA2175496000 | FBN1 | c.4056C= (p.Pro1352=) n.2730C= c.728C= (p.Pro243=) | |
15 | g.48474559G>T | CA051925 | FBN1 | c.4056C>A (p.Pro1352=) n.2730C>A c.728C>A (p.Pro243Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474561del | CA658824323 | FBN1 | c.4056del (p.Trp1354GlyfsTer?) n.2730del c.728del (p.Pro243ArgfsTer8) | ClinVar dbSNP |
15 | g.48474560G>A | CA392320465 | FBN1 | c.4055C>T (p.Pro1352Leu) n.2729C>T c.727C>T (p.Pro243Ser) | gnomAD v4 COSMIC |
15 | g.48474560G>C | CA392320466 | FBN1 | c.4055C>G (p.Pro1352Arg) n.2729C>G c.727C>G (p.Pro243Ala) | |
15 | g.48474560G= | CA2175496014 | FBN1 | c.4055C= (p.Pro1352=) n.2729C= c.727C= (p.Pro243=) | |
15 | g.48474560G>T | CA392320467 | FBN1 | c.4055C>A (p.Pro1352His) n.2729C>A c.727C>A (p.Pro243Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48474561G>A | CA051917 | FBN1 | c.4054C>T (p.Pro1352Ser) n.2728C>T c.726C>T (p.Val242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48474561G>C | CA269520535 | FBN1 | c.4054C>G (p.Pro1352Ala) n.2728C>G c.726C>G (p.Val242=) | dbSNP |
15 | g.48474561G= | CA2175496018 | FBN1 | c.4054C= (p.Pro1352=) n.2728C= c.726C= (p.Val242=) | |
15 | g.48474561G>T | CA392320468 | FBN1 | c.4054C>A (p.Pro1352Thr) n.2728C>A c.726C>A (p.Val242=) | |
15 | g.48474562A>C | CA392320470 | FBN1 | c.4053T>G (p.Ser1351Arg) n.2727T>G c.725T>G (p.Val242Gly) | |
15 | g.48474562A>G | CA490015233 | FBN1 | c.4053T>C (p.Ser1351=) n.2727T>C c.725T>C (p.Val242Ala) | |
15 | g.48474562A>T | CA392320469 | FBN1 | c.4053T>A (p.Ser1351Arg) n.2727T>A c.725T>A (p.Val242Asp) | |
15 | g.48474563C>A | CA392320471 | FBN1 | c.4052G>T (p.Ser1351Ile) n.2726G>T c.724G>T (p.Val242Phe) | |
15 | g.48474563C= | CA2175496032 | FBN1 | c.4052G= (p.Ser1351=) n.2726G= c.724G= (p.Val242=) | |
15 | g.48474563C>G | CA392320472 | FBN1 | c.4052G>C (p.Ser1351Thr) n.2726G>C c.724G>C (p.Val242Leu) | |
15 | g.48474563C>T | CA392320473 | FBN1 | c.4052G>A (p.Ser1351Asn) n.2726G>A c.724G>A (p.Val242Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |