UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48445430_48445433dup | CA916082419 | FBN1 | c.5860_5863dup (p.Gln1955LeufsTer7) n.4534_4537dup c.859_862dup (p.Gln288LeufsTer7) c.*1623_*1626dup (n.*1623_*1626dup) c.1167_1170dup | ClinVar dbSNP |
| 15 | g.48445431_48445432delinsGA | CA2175492507 | FBN1 | c.5861_5862delinsTC (p.Phe1954=) n.4535_4536delinsTC c.860_861delinsTC (p.Phe287=) c.*1624_*1625delinsTC (n.*1624_*1625delinsTC) c.1168_1169delinsTC | |
| 15 | g.48445432A= | CA2175492513 | FBN1 | c.5861T= (p.Phe1954=) n.4535T= c.860T= (p.Phe287=) c.*1624T= (n.*1624T=) c.1168T= | |
| 15 | g.48445432A>C | CA016122 | FBN1 | c.5861T>G (p.Phe1954Cys) n.4535T>G c.860T>G (p.Phe287Cys) c.*1624T>G (n.*1624T>G) c.1168T>G | ClinVar dbSNP |
| 15 | g.48445432A>G | CA392340045 | FBN1 | c.5861T>C (p.Phe1954Ser) n.4535T>C c.860T>C (p.Phe287Ser) c.*1624T>C (n.*1624T>C) c.1168T>C | gnomAD v4 |
| 15 | g.48445432A>T | CA392340044 | FBN1 | c.5861T>A (p.Phe1954Tyr) n.4535T>A c.860T>A (p.Phe287Tyr) c.*1624T>A (n.*1624T>A) c.1168T>A | dbSNP |
| 15 | g.48445434del | CA658798343 | FBN1 | c.5861del (p.Phe1954SerfsTer26) n.4535del c.860del (p.Phe287SerfsTer26) c.*1624del (n.*1624del) c.1168del | ClinVar dbSNP |
| 15 | g.48445433A>C | CA392340046 | FBN1 | c.5860T>G (p.Phe1954Val) n.4534T>G c.859T>G (p.Phe287Val) c.*1623T>G (n.*1623T>G) c.1167T>G | |
| 15 | g.48445433A>G | CA392340047 | FBN1 | c.5860T>C (p.Phe1954Leu) n.4534T>C c.859T>C (p.Phe287Leu) c.*1623T>C (n.*1623T>C) c.1167T>C | |
| 15 | g.48445433A>T | CA392340048 | FBN1 | c.5860T>A (p.Phe1954Ile) n.4534T>A c.859T>A (p.Phe287Ile) c.*1623T>A (n.*1623T>A) c.1167T>A | |
| 15 | g.48445434A= | CA2175492524 | FBN1 | c.5859T= (p.Ser1953=) n.4533T= c.858T= (p.Ser286=) c.*1622T= (n.*1622T=) c.1166T= | |
| 15 | g.48445434A>C | CA490022484 | FBN1 | c.5859T>G (p.Ser1953=) n.4533T>G c.858T>G (p.Ser286=) c.*1622T>G (n.*1622T>G) c.1166T>G | |
| 15 | g.48445434A>G | CA490022486 | FBN1 | c.5859T>C (p.Ser1953=) n.4533T>C c.858T>C (p.Ser286=) c.*1622T>C (n.*1622T>C) c.1166T>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445434A>T | CA490022481 | FBN1 | c.5859T>A (p.Ser1953=) n.4533T>A c.858T>A (p.Ser286=) c.*1622T>A (n.*1622T>A) c.1166T>A | |
| 15 | g.48445435G>A | CA392340049 | FBN1 | c.5858C>T (p.Ser1953Phe) n.4532C>T c.857C>T (p.Ser286Phe) c.*1621C>T (n.*1621C>T) c.1165C>T | |
| 15 | g.48445435G>C | CA392340050 | FBN1 | c.5858C>G (p.Ser1953Cys) n.4532C>G c.857C>G (p.Ser286Cys) c.*1621C>G (n.*1621C>G) c.1165C>G | |
| 15 | g.48445435G= | CA2175492532 | FBN1 | c.5858C= (p.Ser1953=) n.4532C= c.857C= (p.Ser286=) c.*1621C= (n.*1621C=) c.1165C= | |
| 15 | g.48445435G>T | CA392340051 | FBN1 | c.5858C>A (p.Ser1953Tyr) n.4532C>A c.857C>A (p.Ser286Tyr) c.*1621C>A (n.*1621C>A) c.1165C>A | |
| 15 | g.48445436A>C | CA392340052 | FBN1 | c.5857T>G (p.Ser1953Ala) n.4531T>G c.856T>G (p.Ser286Ala) c.*1620T>G (n.*1620T>G) c.1164T>G | |
| 15 | g.48445436A>G | CA392340054 | FBN1 | c.5857T>C (p.Ser1953Pro) n.4531T>C c.856T>C (p.Ser286Pro) c.*1620T>C (n.*1620T>C) c.1164T>C | |
| 15 | g.48445436A>T | CA392340053 | FBN1 | c.5857T>A (p.Ser1953Thr) n.4531T>A c.856T>A (p.Ser286Thr) c.*1620T>A (n.*1620T>A) c.1164T>A | |
| 15 | g.48445436dup | CA658824294 | FBN1 | c.5857dup (p.Ser1953PhefsTer8) n.4531dup c.856dup (p.Ser286PhefsTer8) c.*1620dup (n.*1620dup) c.1164dup | ClinVar dbSNP |
| 15 | g.48445437C>A | CA055751 | FBN1 | c.5856G>T (p.Gly1952=) n.4530G>T c.855G>T (p.Gly285=) c.*1619G>T (n.*1619G>T) c.1163G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445437C= | CA2175492558 | FBN1 | c.5856G= (p.Gly1952=) n.4530G= c.855G= (p.Gly285=) c.*1619G= (n.*1619G=) c.1163G= | |
| 15 | g.48445437C>G | CA490022496 | FBN1 | c.5856G>C (p.Gly1952=) n.4530G>C c.855G>C (p.Gly285=) c.*1619G>C (n.*1619G>C) c.1163G>C | ClinVar dbSNP |
| 15 | g.48445437C>T | CA490022499 | FBN1 | c.5856G>A (p.Gly1952=) n.4530G>A c.855G>A (p.Gly285=) c.*1619G>A (n.*1619G>A) c.1163G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48445440del | CA2695220231 | FBN1 | c.5856del (p.Ser1953LeufsTer27) n.4530del c.855del (p.Ser286LeufsTer27) c.*1619del (n.*1619del) c.1163del | ClinVar |
| 15 | g.48445438C>A | CA392340055 | FBN1 | c.5855G>T (p.Gly1952Val) n.4529G>T c.854G>T (p.Gly285Val) c.*1618G>T (n.*1618G>T) c.1162G>T | ClinVar dbSNP |
| 15 | g.48445438C>G | CA392340056 | FBN1 | c.5855G>C (p.Gly1952Ala) n.4529G>C c.854G>C (p.Gly285Ala) c.*1618G>C (n.*1618G>C) c.1162G>C | |
| 15 | g.48445438C>T | CA392340057 | FBN1 | c.5855G>A (p.Gly1952Glu) n.4529G>A c.854G>A (p.Gly285Glu) c.*1618G>A (n.*1618G>A) c.1162G>A | gnomAD v4 |
| 15 | g.48445439C>A | CA392340058 | FBN1 | c.5854G>T (p.Gly1952Trp) n.4528G>T c.853G>T (p.Gly285Trp) c.*1617G>T (n.*1617G>T) c.1161G>T | |
| 15 | g.48445439C= | CA2175492568 | FBN1 | c.5854G= (p.Gly1952=) n.4528G= c.853G= (p.Gly285=) c.*1617G= (n.*1617G=) c.1161G= | |
| 15 | g.48445439C>G | CA392340060 | FBN1 | c.5854G>C (p.Gly1952Arg) n.4528G>C c.853G>C (p.Gly285Arg) c.*1617G>C (n.*1617G>C) c.1161G>C | |
| 15 | g.48445439C>T | CA392340059 | FBN1 | c.5854G>A (p.Gly1952Arg) n.4528G>A c.853G>A (p.Gly285Arg) c.*1617G>A (n.*1617G>A) c.1161G>A | dbSNP |
| 15 | g.48445440C>A | CA490022506 | FBN1 | c.5853G>T (p.Val1951=) n.4527G>T c.852G>T (p.Val284=) c.*1616G>T (n.*1616G>T) c.1160G>T | |
| 15 | g.48445440C>G | CA490022508 | FBN1 | c.5853G>C (p.Val1951=) n.4527G>C c.852G>C (p.Val284=) c.*1616G>C (n.*1616G>C) c.1160G>C | |
| 15 | g.48445440C>T | CA490022511 | FBN1 | c.5853G>A (p.Val1951=) n.4527G>A c.852G>A (p.Val284=) c.*1616G>A (n.*1616G>A) c.1160G>A | |
| 15 | g.48445441A= | CA2175492575 | FBN1 | c.5852T= (p.Val1951=) n.4526T= c.851T= (p.Val284=) c.*1615T= (n.*1615T=) c.1159T= | |
| 15 | g.48445441A>C | CA392340061 | FBN1 | c.5852T>G (p.Val1951Gly) n.4526T>G c.851T>G (p.Val284Gly) c.*1615T>G (n.*1615T>G) c.1159T>G | |
| 15 | g.48445441A>G | CA392340063 | FBN1 | c.5852T>C (p.Val1951Ala) n.4526T>C c.851T>C (p.Val284Ala) c.*1615T>C (n.*1615T>C) c.1159T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48445441A>T | CA392340062 | FBN1 | c.5852T>A (p.Val1951Glu) n.4526T>A c.851T>A (p.Val284Glu) c.*1615T>A (n.*1615T>A) c.1159T>A | |
| 15 | g.48445442C>A | CA392340064 | FBN1 | c.5851G>T (p.Val1951Leu) n.4525G>T c.850G>T (p.Val284Leu) c.*1614G>T (n.*1614G>T) c.1158G>T | |
| 15 | g.48445442C= | CA2175492581 | FBN1 | c.5851G= (p.Val1951=) n.4525G= c.850G= (p.Val284=) c.*1614G= (n.*1614G=) c.1158G= | |
| 15 | g.48445442C>G | CA392340066 | FBN1 | c.5851G>C (p.Val1951Leu) n.4525G>C c.850G>C (p.Val284Leu) c.*1614G>C (n.*1614G>C) c.1158G>C | |
| 15 | g.48445442C>T | CA392340065 | FBN1 | c.5851G>A (p.Val1951Met) n.4525G>A c.850G>A (p.Val284Met) c.*1614G>A (n.*1614G>A) c.1158G>A | |
| 15 | g.48445443T>A | CA490022522 | FBN1 | c.5850A>T (p.Thr1950=) n.4524A>T c.849A>T (p.Thr283=) c.*1613A>T (n.*1613A>T) c.1157A>T | gnomAD v4 |
| 15 | g.48445443T>C | CA490022525 | FBN1 | c.5850A>G (p.Thr1950=) n.4524A>G c.849A>G (p.Thr283=) c.*1613A>G (n.*1613A>G) c.1157A>G | ClinVar dbSNP |
| 15 | g.48445443T>G | CA490022527 | FBN1 | c.5850A>C (p.Thr1950=) n.4524A>C c.849A>C (p.Thr283=) c.*1613A>C (n.*1613A>C) c.1157A>C | |
| 15 | g.48445443T= | CA2175492588 | FBN1 | c.5850A= (p.Thr1950=) n.4524A= c.849A= (p.Thr283=) c.*1613A= (n.*1613A=) c.1157A= | |
| 15 | g.48445444_48445448dup | CA916082420 | FBN1 | c.5846_5850dup (p.Val1951IlefsTer31) n.4520_4524dup c.845_849dup (p.Val284IlefsTer31) c.*1609_*1613dup (n.*1609_*1613dup) c.1153_1157dup | ClinVar dbSNP |
| 15 | g.48445444G>A | CA392340067 | FBN1 | c.5849C>T (p.Thr1950Ile) n.4523C>T c.848C>T (p.Thr283Ile) c.*1612C>T (n.*1612C>T) c.1156C>T | |
| 15 | g.48445444G>C | CA392340069 | FBN1 | c.5849C>G (p.Thr1950Arg) n.4523C>G c.848C>G (p.Thr283Arg) c.*1612C>G (n.*1612C>G) c.1156C>G | |
| 15 | g.48445444G>T | CA392340068 | FBN1 | c.5849C>A (p.Thr1950Lys) n.4523C>A c.848C>A (p.Thr283Lys) c.*1612C>A (n.*1612C>A) c.1156C>A | |
| 15 | g.48445445T>A | CA392340070 | FBN1 | c.5848A>T (p.Thr1950Ser) n.4522A>T c.847A>T (p.Thr283Ser) c.*1611A>T (n.*1611A>T) c.1155A>T | |
| 15 | g.48445445T>C | CA392340072 | FBN1 | c.5848A>G (p.Thr1950Ala) n.4522A>G c.847A>G (p.Thr283Ala) c.*1611A>G (n.*1611A>G) c.1155A>G | gnomAD v4 |
| 15 | g.48445445T>G | CA392340071 | FBN1 | c.5848A>C (p.Thr1950Pro) n.4522A>C c.847A>C (p.Thr283Pro) c.*1611A>C (n.*1611A>C) c.1155A>C | |
| 15 | g.48445447_48445449del | CA2695220234 | FBN1 | c.5846_5848del (p.Asn1949del) n.4520_4522del c.845_847del (p.Asn282del) c.*1609_*1611del (n.*1609_*1611del) c.1153_1155del | |
| 15 | g.48445446A>C | CA392340073 | FBN1 | c.5847T>G (p.Asn1949Lys) n.4521T>G c.846T>G (p.Asn282Lys) c.*1610T>G (n.*1610T>G) c.1154T>G | |
| 15 | g.48445446A>G | CA490022536 | FBN1 | c.5847T>C (p.Asn1949=) n.4521T>C c.846T>C (p.Asn282=) c.*1610T>C (n.*1610T>C) c.1154T>C | |
| 15 | g.48445446A>T | CA392340074 | FBN1 | c.5847T>A (p.Asn1949Lys) n.4521T>A c.846T>A (p.Asn282Lys) c.*1610T>A (n.*1610T>A) c.1154T>A | |
| 15 | g.48445447T>A | CA392340075 | FBN1 | c.5846A>T (p.Asn1949Ile) n.4520A>T c.845A>T (p.Asn282Ile) c.*1609A>T (n.*1609A>T) c.1153A>T | |
| 15 | g.48445447T>C | CA392340077 | FBN1 | c.5846A>G (p.Asn1949Ser) n.4520A>G c.845A>G (p.Asn282Ser) c.*1609A>G (n.*1609A>G) c.1153A>G | |
| 15 | g.48445447T>G | CA392340076 | FBN1 | c.5846A>C (p.Asn1949Thr) n.4520A>C c.845A>C (p.Asn282Thr) c.*1609A>C (n.*1609A>C) c.1153A>C | |
| 15 | g.48445448T>A | CA392340078 | FBN1 | c.5845A>T (p.Asn1949Tyr) n.4519A>T c.844A>T (p.Asn282Tyr) c.*1608A>T (n.*1608A>T) c.1152A>T | |
| 15 | g.48445448T>C | CA392340080 | FBN1 | c.5845A>G (p.Asn1949Asp) n.4519A>G c.844A>G (p.Asn282Asp) c.*1608A>G (n.*1608A>G) c.1152A>G | |
| 15 | g.48445448T>G | CA392340079 | FBN1 | c.5845A>C (p.Asn1949His) n.4519A>C c.844A>C (p.Asn282His) c.*1608A>C (n.*1608A>C) c.1152A>C | |
| 15 | g.48445449A>C | CA392340081 | FBN1 | c.5844T>G (p.Ile1948Met) n.4518T>G c.843T>G (p.Ile281Met) c.*1607T>G (n.*1607T>G) c.1151T>G | |
| 15 | g.48445449A>G | CA490022547 | FBN1 | c.5844T>C (p.Ile1948=) n.4518T>C c.843T>C (p.Ile281=) c.*1607T>C (n.*1607T>C) c.1151T>C | |
| 15 | g.48445449A>T | CA490022549 | FBN1 | c.5844T>A (p.Ile1948=) n.4518T>A c.843T>A (p.Ile281=) c.*1607T>A (n.*1607T>A) c.1151T>A | |
| 15 | g.48445450A>C | CA392340084 | FBN1 | c.5843T>G (p.Ile1948Ser) n.4517T>G c.842T>G (p.Ile281Ser) c.*1606T>G (n.*1606T>G) c.1150T>G | |
| 15 | g.48445450A>G | CA392340082 | FBN1 | c.5843T>C (p.Ile1948Thr) n.4517T>C c.842T>C (p.Ile281Thr) c.*1606T>C (n.*1606T>C) c.1150T>C | |
| 15 | g.48445450A>T | CA392340083 | FBN1 | c.5843T>A (p.Ile1948Asn) n.4517T>A c.842T>A (p.Ile281Asn) c.*1606T>A (n.*1606T>A) c.1150T>A | |
| 15 | g.48445451T>A | CA392340085 | FBN1 | c.5842A>T (p.Ile1948Phe) n.4516A>T c.841A>T (p.Ile281Phe) c.*1605A>T (n.*1605A>T) c.1149A>T | |
| 15 | g.48445451T>C | CA055746 | FBN1 | c.5842A>G (p.Ile1948Val) n.4516A>G c.841A>G (p.Ile281Val) c.*1605A>G (n.*1605A>G) c.1149A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445451T>G | CA392340086 | FBN1 | c.5842A>C (p.Ile1948Leu) n.4516A>C c.841A>C (p.Ile281Leu) c.*1605A>C (n.*1605A>C) c.1149A>C | |
| 15 | g.48445451T= | CA2175492598 | FBN1 | c.5842A= (p.Ile1948=) n.4516A= c.841A= (p.Ile281=) c.*1605A= (n.*1605A=) c.1149A= | |
| 15 | g.48445452G>A | CA055740 | FBN1 | c.5841C>T (p.Cys1947=) n.4515C>T c.840C>T (p.Cys280=) c.*1604C>T (n.*1604C>T) c.1148C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445452G>C | CA392340087 | FBN1 | c.5841C>G (p.Cys1947Trp) n.4515C>G c.840C>G (p.Cys280Trp) c.*1604C>G (n.*1604C>G) c.1148C>G | |
| 15 | g.48445452G= | CA2175492605 | FBN1 | c.5841C= (p.Cys1947=) n.4515C= c.840C= (p.Cys280=) c.*1604C= (n.*1604C=) c.1148C= | |
| 15 | g.48445452G>T | CA392340088 | FBN1 | c.5841C>A (p.Cys1947Ter) n.4515C>A c.840C>A (p.Cys280Ter) c.*1604C>A (n.*1604C>A) c.1148C>A | |
| 15 | g.48445453C>A | CA392340089 | FBN1 | c.5840G>T (p.Cys1947Phe) n.4514G>T c.839G>T (p.Cys280Phe) c.*1603G>T (n.*1603G>T) c.1147G>T | ClinVar dbSNP |
| 15 | g.48445453C= | CA2175492619 | FBN1 | c.5840G= (p.Cys1947=) n.4514G= c.839G= (p.Cys280=) c.*1603G= (n.*1603G=) c.1147G= | |
| 15 | g.48445453C>G | CA392340090 | FBN1 | c.5840G>C (p.Cys1947Ser) n.4514G>C c.839G>C (p.Cys280Ser) c.*1603G>C (n.*1603G>C) c.1147G>C | |
| 15 | g.48445453C>T | CA016110 | FBN1 | c.5840G>A (p.Cys1947Tyr) n.4514G>A c.839G>A (p.Cys280Tyr) c.*1603G>A (n.*1603G>A) c.1147G>A | ClinVar dbSNP |
| 15 | g.48445454A= | CA2175492634 | FBN1 | c.5839T= (p.Cys1947=) n.4513T= c.838T= (p.Cys280=) c.*1602T= (n.*1602T=) c.1146T= | |
| 15 | g.48445454A>C | CA392340093 | FBN1 | c.5839T>G (p.Cys1947Gly) n.4513T>G c.838T>G (p.Cys280Gly) c.*1602T>G (n.*1602T>G) c.1146T>G | ClinVar dbSNP |
| 15 | g.48445454A>G | CA392340092 | FBN1 | c.5839T>C (p.Cys1947Arg) n.4513T>C c.838T>C (p.Cys280Arg) c.*1602T>C (n.*1602T>C) c.1146T>C | ClinVar dbSNP |
| 15 | g.48445454A>T | CA392340091 | FBN1 | c.5839T>A (p.Cys1947Ser) n.4513T>A c.838T>A (p.Cys280Ser) c.*1602T>A (n.*1602T>A) c.1146T>A | ClinVar dbSNP |
| 15 | g.48445455T>A | CA392340094 | FBN1 | c.5838A>T (p.Gln1946His) n.4512A>T c.837A>T (p.Gln279His) c.*1601A>T (n.*1601A>T) c.1145A>T | |
| 15 | g.48445455T>C | CA055736 | FBN1 | c.5838A>G (p.Gln1946=) n.4512A>G c.837A>G (p.Gln279=) c.*1601A>G (n.*1601A>G) c.1145A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445455T>G | CA392340095 | FBN1 | c.5838A>C (p.Gln1946His) n.4512A>C c.837A>C (p.Gln279His) c.*1601A>C (n.*1601A>C) c.1145A>C | |
| 15 | g.48445455T= | CA2175492644 | FBN1 | c.5838A= (p.Gln1946=) n.4512A= c.837A= (p.Gln279=) c.*1601A= (n.*1601A=) c.1145A= | |
| 15 | g.48445456T>A | CA392340096 | FBN1 | c.5837A>T (p.Gln1946Leu) n.4511A>T c.836A>T (p.Gln279Leu) c.*1600A>T (n.*1600A>T) c.1144A>T | |
| 15 | g.48445456T>C | CA392340097 | FBN1 | c.5837A>G (p.Gln1946Arg) n.4511A>G c.836A>G (p.Gln279Arg) c.*1600A>G (n.*1600A>G) c.1144A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445456T>G | CA392340098 | FBN1 | c.5837A>C (p.Gln1946Pro) n.4511A>C c.836A>C (p.Gln279Pro) c.*1600A>C (n.*1600A>C) c.1144A>C | |
| 15 | g.48445456T= | CA2175492649 | FBN1 | c.5837A= (p.Gln1946=) n.4511A= c.836A= (p.Gln279=) c.*1600A= (n.*1600A=) c.1144A= | |
| 15 | g.48445457G>A | CA392340099 | FBN1 | c.5836C>T (p.Gln1946Ter) n.4510C>T c.835C>T (p.Gln279Ter) c.*1599C>T (n.*1599C>T) c.1143C>T | ClinVar |
| 15 | g.48445457G>C | CA392340100 | FBN1 | c.5836C>G (p.Gln1946Glu) n.4510C>G c.835C>G (p.Gln279Glu) c.*1599C>G (n.*1599C>G) c.1143C>G | |
| 15 | g.48445457G>T | CA392340101 | FBN1 | c.5836C>A (p.Gln1946Lys) n.4510C>A c.835C>A (p.Gln279Lys) c.*1599C>A (n.*1599C>A) c.1143C>A | |
| 15 | g.48445458del | CA2573150957 | FBN1 | c.5836del (p.Gln1946AsnfsTer?) n.4510del c.835del (p.Gln279AsnfsTer?) c.*1599del (n.*1599del) c.1143del | ClinVar dbSNP |
| 15 | g.48445458G>A | CA490022591 | FBN1 | c.5835C>T (p.Gly1945=) n.4509C>T c.834C>T (p.Gly278=) c.*1598C>T (n.*1598C>T) c.1142C>T | |
| 15 | g.48445458G>C | CA490022593 | FBN1 | c.5835C>G (p.Gly1945=) n.4509C>G c.834C>G (p.Gly278=) c.*1598C>G (n.*1598C>G) c.1142C>G | |
| 15 | g.48445458G>T | CA490022596 | FBN1 | c.5835C>A (p.Gly1945=) n.4509C>A c.834C>A (p.Gly278=) c.*1598C>A (n.*1598C>A) c.1142C>A | gnomAD v4 |
| 15 | g.48445459C>A | CA392340102 | FBN1 | c.5834G>T (p.Gly1945Val) n.4508G>T c.833G>T (p.Gly278Val) c.*1597G>T (n.*1597G>T) c.1141G>T | |
| 15 | g.48445459C= | CA2175492654 | FBN1 | c.5834G= (p.Gly1945=) n.4508G= c.833G= (p.Gly278=) c.*1597G= (n.*1597G=) c.1141G= | |
| 15 | g.48445459C>G | CA392340103 | FBN1 | c.5834G>C (p.Gly1945Ala) n.4508G>C c.833G>C (p.Gly278Ala) c.*1597G>C (n.*1597G>C) c.1141G>C | |
| 15 | g.48445459C>T | CA392340104 | FBN1 | c.5834G>A (p.Gly1945Asp) n.4508G>A c.833G>A (p.Gly278Asp) c.*1597G>A (n.*1597G>A) c.1141G>A | ClinVar dbSNP |
| 15 | g.48445460C>A | CA392340106 | FBN1 | c.5833G>T (p.Gly1945Cys) n.4507G>T c.832G>T (p.Gly278Cys) c.*1596G>T (n.*1596G>T) c.1140G>T | |
| 15 | g.48445460C>G | CA392340107 | FBN1 | c.5833G>C (p.Gly1945Arg) n.4507G>C c.832G>C (p.Gly278Arg) c.*1596G>C (n.*1596G>C) c.1140G>C | |
| 15 | g.48445460C>T | CA392340105 | FBN1 | c.5833G>A (p.Gly1945Ser) n.4507G>A c.832G>A (p.Gly278Ser) c.*1596G>A (n.*1596G>A) c.1140G>A | |
| 15 | g.48445461A= | CA2175492660 | FBN1 | c.5832T= (p.Asn1944=) n.4506T= c.831T= (p.Asn277=) c.*1595T= (n.*1595T=) c.1139T= | |
| 15 | g.48445461A>C | CA392340108 | FBN1 | c.5832T>G (p.Asn1944Lys) n.4506T>G c.831T>G (p.Asn277Lys) c.*1595T>G (n.*1595T>G) c.1139T>G | |
| 15 | g.48445461A>G | CA490022607 | FBN1 | c.5832T>C (p.Asn1944=) n.4506T>C c.831T>C (p.Asn277=) c.*1595T>C (n.*1595T>C) c.1139T>C | |
| 15 | g.48445461A>T | CA392340109 | FBN1 | c.5832T>A (p.Asn1944Lys) n.4506T>A c.831T>A (p.Asn277Lys) c.*1595T>A (n.*1595T>A) c.1139T>A | |
| 15 | g.48445462T>A | CA392340110 | FBN1 | c.5831A>T (p.Asn1944Ile) n.4505A>T c.830A>T (p.Asn277Ile) c.*1594A>T (n.*1594A>T) c.1138A>T | |
| 15 | g.48445462T>C | CA392340111 | FBN1 | c.5831A>G (p.Asn1944Ser) n.4505A>G c.830A>G (p.Asn277Ser) c.*1594A>G (n.*1594A>G) c.1138A>G | |
| 15 | g.48445462T>G | CA392340112 | FBN1 | c.5831A>C (p.Asn1944Thr) n.4505A>C c.830A>C (p.Asn277Thr) c.*1594A>C (n.*1594A>C) c.1138A>C | |
| 15 | g.48445463_48445464dup | CA1139663931 | FBN1 | c.5830_5831dup (p.Asn1944LysfsTer?) n.4504_4505dup c.829_830dup (p.Asn277LysfsTer?) c.*1593_*1594dup (n.*1593_*1594dup) c.1137_1138dup | ClinVar dbSNP |
| 15 | g.48445464del | CA2580089691 | FBN1 | c.5831del (p.Asn1944MetfsTer?) n.4505del c.830del (p.Asn277MetfsTer?) c.*1594del (n.*1594del) c.1138del | ClinVar |
| 15 | g.48445463T>A | CA392340113 | FBN1 | c.5830A>T (p.Asn1944Tyr) n.4504A>T c.829A>T (p.Asn277Tyr) c.*1593A>T (n.*1593A>T) c.1137A>T | |
| 15 | g.48445463T>C | CA392340114 | FBN1 | c.5830A>G (p.Asn1944Asp) n.4504A>G c.829A>G (p.Asn277Asp) c.*1593A>G (n.*1593A>G) c.1137A>G | |
| 15 | g.48445463T>G | CA392340115 | FBN1 | c.5830A>C (p.Asn1944His) n.4504A>C c.829A>C (p.Asn277His) c.*1593A>C (n.*1593A>C) c.1137A>C | gnomAD v4 |
| 15 | g.48445464T>A | CA392340116 | FBN1 | c.5829A>T (p.Arg1943Ser) n.4503A>T c.828A>T (p.Arg276Ser) c.*1592A>T (n.*1592A>T) c.1136A>T | |
| 15 | g.48445464T>C | CA490022621 | FBN1 | c.5829A>G (p.Arg1943=) n.4503A>G c.828A>G (p.Arg276=) c.*1592A>G (n.*1592A>G) c.1136A>G | |
| 15 | g.48445464T>G | CA392340117 | FBN1 | c.5829A>C (p.Arg1943Ser) n.4503A>C c.828A>C (p.Arg276Ser) c.*1592A>C (n.*1592A>C) c.1136A>C | |
| 15 | g.48445465C>A | CA392340118 | FBN1 | c.5828G>T (p.Arg1943Ile) n.4502G>T c.827G>T (p.Arg276Ile) c.*1591G>T (n.*1591G>T) c.1135G>T | ClinVar dbSNP |
| 15 | g.48445465C= | CA2175492673 | FBN1 | c.5828G= (p.Arg1943=) n.4502G= c.827G= (p.Arg276=) c.*1591G= (n.*1591G=) c.1135G= | |
| 15 | g.48445465C>G | CA392340119 | FBN1 | c.5828G>C (p.Arg1943Thr) n.4502G>C c.827G>C (p.Arg276Thr) c.*1591G>C (n.*1591G>C) c.1135G>C | |
| 15 | g.48445465C>T | CA392340120 | FBN1 | c.5828G>A (p.Arg1943Lys) n.4502G>A c.827G>A (p.Arg276Lys) c.*1591G>A (n.*1591G>A) c.1135G>A | |
| 15 | g.48445466T>A | CA392340122 | FBN1 | c.5827A>T (p.Arg1943Ter) n.4501A>T c.826A>T (p.Arg276Ter) c.*1590A>T (n.*1590A>T) c.1134A>T | |
| 15 | g.48445466T>C | CA392340121 | FBN1 | c.5827A>G (p.Arg1943Gly) n.4501A>G c.826A>G (p.Arg276Gly) c.*1590A>G (n.*1590A>G) c.1134A>G | |
| 15 | g.48445466T>G | CA490022629 | FBN1 | c.5827A>C (p.Arg1943=) n.4501A>C c.826A>C (p.Arg276=) c.*1590A>C (n.*1590A>C) c.1134A>C | |
| 15 | g.48445467G>A | CA490022634 | FBN1 | c.5826C>T (p.Cys1942=) n.4500C>T c.825C>T (p.Cys275=) c.*1589C>T (n.*1589C>T) c.1133C>T | |
| 15 | g.48445467G>C | CA392340123 | FBN1 | c.5826C>G (p.Cys1942Trp) n.4500C>G c.825C>G (p.Cys275Trp) c.*1589C>G (n.*1589C>G) c.1133C>G | |
| 15 | g.48445467G= | CA2175492685 | FBN1 | c.5826C= (p.Cys1942=) n.4500C= c.825C= (p.Cys275=) c.*1589C= (n.*1589C=) c.1133C= | |
| 15 | g.48445467G>T | CA269532860 | FBN1 | c.5826C>A (p.Cys1942Ter) n.4500C>A c.825C>A (p.Cys275Ter) c.*1589C>A (n.*1589C>A) c.1133C>A | ClinVar dbSNP |
| 15 | g.48445468C>A | CA016098 | FBN1 | c.5825G>T (p.Cys1942Phe) n.4499G>T c.824G>T (p.Cys275Phe) c.*1588G>T (n.*1588G>T) c.1132G>T | ClinVar dbSNP |
| 15 | g.48445468C= | CA2175492703 | FBN1 | c.5825G= (p.Cys1942=) n.4499G= c.824G= (p.Cys275=) c.*1588G= (n.*1588G=) c.1132G= | |
| 15 | g.48445468C>G | CA10587808 | FBN1 | c.5825G>C (p.Cys1942Ser) n.4499G>C c.824G>C (p.Cys275Ser) c.*1588G>C (n.*1588G>C) c.1132G>C | ClinVar dbSNP |
| 15 | g.48445468C>T | CA392340124 | FBN1 | c.5825G>A (p.Cys1942Tyr) n.4499G>A c.824G>A (p.Cys275Tyr) c.*1588G>A (n.*1588G>A) c.1132G>A | ClinVar dbSNP |
| 15 | g.48445468_48445470delinsCAA | CA2175492697 | FBN1 | c.5823_5825delinsTTG (p.Leu1941=) n.4497_4499delinsTTG c.822_824delinsTTG (p.Leu274=) c.*1586_*1588delinsTTG (n.*1586_*1588delinsTTG) c.1130_1132delinsTTG | |
| 15 | g.48445469A= | CA2175492757 | FBN1 | c.5824T= (p.Cys1942=) n.4498T= c.823T= (p.Cys275=) c.*1587T= (n.*1587T=) c.1131T= | |
| 15 | g.48445469A>C | CA392340125 | FBN1 | c.5824T>G (p.Cys1942Gly) n.4498T>G c.823T>G (p.Cys275Gly) c.*1587T>G (n.*1587T>G) c.1131T>G | ClinVar dbSNP |
| 15 | g.48445469A>G | CA392340126 | FBN1 | c.5824T>C (p.Cys1942Arg) n.4498T>C c.823T>C (p.Cys275Arg) c.*1587T>C (n.*1587T>C) c.1131T>C | ClinVar dbSNP |
| 15 | g.48445469A>T | CA392340127 | FBN1 | c.5824T>A (p.Cys1942Ser) n.4498T>A c.823T>A (p.Cys275Ser) c.*1587T>A (n.*1587T>A) c.1131T>A | ClinVar dbSNP |
| 15 | g.48445470_48445471del | CA16614638 | FBN1 | c.5823_5824del (p.Cys1942GlnfsTer7) n.4497_4498del c.822_823del (p.Cys275GlnfsTer7) c.*1586_*1587del (n.*1586_*1587del) c.1130_1131del | ClinVar dbSNP |
| 15 | g.48445470A>C | CA490022648 | FBN1 | c.5823T>G (p.Leu1941=) n.4497T>G c.822T>G (p.Leu274=) c.*1586T>G (n.*1586T>G) c.1130T>G | |
| 15 | g.48445470A>G | CA490022650 | FBN1 | c.5823T>C (p.Leu1941=) n.4497T>C c.822T>C (p.Leu274=) c.*1586T>C (n.*1586T>C) c.1130T>C | |
| 15 | g.48445470A>T | CA490022651 | FBN1 | c.5823T>A (p.Leu1941=) n.4497T>A c.822T>A (p.Leu274=) c.*1586T>A (n.*1586T>A) c.1130T>A | |
| 15 | g.48445471A>C | CA392340130 | FBN1 | c.5822T>G (p.Leu1941Arg) n.4496T>G c.821T>G (p.Leu274Arg) c.*1585T>G (n.*1585T>G) c.1129T>G | |
| 15 | g.48445471A>G | CA392340132 | FBN1 | c.5822T>C (p.Leu1941Pro) n.4496T>C c.821T>C (p.Leu274Pro) c.*1585T>C (n.*1585T>C) c.1129T>C | |
| 15 | g.48445471A>T | CA392340133 | FBN1 | c.5822T>A (p.Leu1941His) n.4496T>A c.821T>A (p.Leu274His) c.*1585T>A (n.*1585T>A) c.1129T>A | |
| 15 | g.48445472G>A | CA392340135 | FBN1 | c.5821C>T (p.Leu1941Phe) n.4495C>T c.820C>T (p.Leu274Phe) c.*1584C>T (n.*1584C>T) c.1128C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445472G>C | CA392340136 | FBN1 | c.5821C>G (p.Leu1941Val) n.4495C>G c.820C>G (p.Leu274Val) c.*1584C>G (n.*1584C>G) c.1128C>G | |
| 15 | g.48445472G= | CA2175492775 | FBN1 | c.5821C= (p.Leu1941=) n.4495C= c.820C= (p.Leu274=) c.*1584C= (n.*1584C=) c.1128C= | |
| 15 | g.48445472G>T | CA392340138 | FBN1 | c.5821C>A (p.Leu1941Ile) n.4495C>A c.820C>A (p.Leu274Ile) c.*1584C>A (n.*1584C>A) c.1128C>A | COSMIC |
| 15 | g.48445473A>C | CA392340143 | FBN1 | c.5820T>G (p.Asn1940Lys) n.4494T>G c.819T>G (p.Asn273Lys) c.*1583T>G (n.*1583T>G) c.1127T>G | |
| 15 | g.48445473A>G | CA490022669 | FBN1 | c.5820T>C (p.Asn1940=) n.4494T>C c.819T>C (p.Asn273=) c.*1583T>C (n.*1583T>C) c.1127T>C | |
| 15 | g.48445473A>T | CA392340141 | FBN1 | c.5820T>A (p.Asn1940Lys) n.4494T>A c.819T>A (p.Asn273Lys) c.*1583T>A (n.*1583T>A) c.1127T>A | |
| 15 | g.48445474T>A | CA392340145 | FBN1 | c.5819A>T (p.Asn1940Ile) n.4493A>T c.818A>T (p.Asn273Ile) c.*1582A>T (n.*1582A>T) c.1126A>T | |
| 15 | g.48445474T>C | CA392340147 | FBN1 | c.5819A>G (p.Asn1940Ser) n.4493A>G c.818A>G (p.Asn273Ser) c.*1582A>G (n.*1582A>G) c.1126A>G | |
| 15 | g.48445474T>G | CA392340148 | FBN1 | c.5819A>C (p.Asn1940Thr) n.4493A>C c.818A>C (p.Asn273Thr) c.*1582A>C (n.*1582A>C) c.1126A>C | |
| 15 | g.48445475T>A | CA392340151 | FBN1 | c.5818A>T (p.Asn1940Tyr) n.4492A>T c.817A>T (p.Asn273Tyr) c.*1581A>T (n.*1581A>T) c.1125A>T | |
| 15 | g.48445475T>C | CA392340153 | FBN1 | c.5818A>G (p.Asn1940Asp) n.4492A>G c.817A>G (p.Asn273Asp) c.*1581A>G (n.*1581A>G) c.1125A>G | |
| 15 | g.48445475T>G | CA392340154 | FBN1 | c.5818A>C (p.Asn1940His) n.4492A>C c.817A>C (p.Asn273His) c.*1581A>C (n.*1581A>C) c.1125A>C | |
| 15 | g.48445475_48445476delinsTC | CA2175492780 | FBN1 | c.5817_5818delinsGA (p.Gly1939=) n.4491_4492delinsGA c.816_817delinsGA (p.Gly272=) c.*1580_*1581delinsGA (n.*1580_*1581delinsGA) c.1124_1125delinsGA | |
| 15 | g.48445476C>A | CA490022679 | FBN1 | c.5817G>T (p.Gly1939=) n.4491G>T c.816G>T (p.Gly272=) c.*1580G>T (n.*1580G>T) c.1124G>T | |
| 15 | g.48445476C= | CA2175492792 | FBN1 | c.5817G= (p.Gly1939=) n.4491G= c.816G= (p.Gly272=) c.*1580G= (n.*1580G=) c.1124G= | |
| 15 | g.48445476C>G | CA269532868 | FBN1 | c.5817G>C (p.Gly1939=) n.4491G>C c.816G>C (p.Gly272=) c.*1580G>C (n.*1580G>C) c.1124G>C | dbSNP gnomAD v4 |
| 15 | g.48445476C>T | CA055731 | FBN1 | c.5817G>A (p.Gly1939=) n.4491G>A c.816G>A (p.Gly272=) c.*1580G>A (n.*1580G>A) c.1124G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445478del | CA016091 | FBN1 | c.5817del (p.Asn1940IlefsTer?) n.4491del c.816del (p.Asn273IlefsTer?) c.*1580del (n.*1580del) c.1124del | ClinVar dbSNP |
| 15 | g.48445477C>A | CA392340160 | FBN1 | c.5816G>T (p.Gly1939Val) n.4490G>T c.815G>T (p.Gly272Val) c.*1579G>T (n.*1579G>T) c.1123G>T | |
| 15 | g.48445477C= | CA2175492799 | FBN1 | c.5816G= (p.Gly1939=) n.4490G= c.815G= (p.Gly272=) c.*1579G= (n.*1579G=) c.1123G= | |
| 15 | g.48445477C>G | CA392340163 | FBN1 | c.5816G>C (p.Gly1939Ala) n.4490G>C c.815G>C (p.Gly272Ala) c.*1579G>C (n.*1579G>C) c.1123G>C | dbSNP |
| 15 | g.48445477C>T | CA055723 | FBN1 | c.5816G>A (p.Gly1939Glu) n.4490G>A c.815G>A (p.Gly272Glu) c.*1579G>A (n.*1579G>A) c.1123G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445478C>A | CA392340165 | FBN1 | c.5815G>T (p.Gly1939Trp) n.4489G>T c.814G>T (p.Gly272Trp) c.*1578G>T (n.*1578G>T) c.1122G>T | |
| 15 | g.48445478C>G | CA392340166 | FBN1 | c.5815G>C (p.Gly1939Arg) n.4489G>C c.814G>C (p.Gly272Arg) c.*1578G>C (n.*1578G>C) c.1122G>C | COSMIC |
| 15 | g.48445478C>T | CA392340168 | FBN1 | c.5815G>A (p.Gly1939Arg) n.4489G>A c.814G>A (p.Gly272Arg) c.*1578G>A (n.*1578G>A) c.1122G>A | gnomAD v4 |
| 15 | g.48445479A>C | CA392340171 | FBN1 | c.5814T>G (p.Asn1938Lys) n.4488T>G c.813T>G (p.Asn271Lys) c.*1577T>G (n.*1577T>G) c.1121T>G | |
| 15 | g.48445479A>G | CA490022689 | FBN1 | c.5814T>C (p.Asn1938=) n.4488T>C c.813T>C (p.Asn271=) c.*1577T>C (n.*1577T>C) c.1121T>C | |
| 15 | g.48445479A>T | CA392340172 | FBN1 | c.5814T>A (p.Asn1938Lys) n.4488T>A c.813T>A (p.Asn271Lys) c.*1577T>A (n.*1577T>A) c.1121T>A | |
| 15 | g.48445479_48445480delinsAT | CA2175492805 | FBN1 | c.5813_5814delinsAT (p.Asn1938=) n.4487_4488delinsAT c.812_813delinsAT (p.Asn271=) c.*1576_*1577delinsAT (n.*1576_*1577delinsAT) c.1120_1121delinsAT | |
| 15 | g.48445480T>A | CA392340175 | FBN1 | c.5813A>T (p.Asn1938Ile) n.4487A>T c.812A>T (p.Asn271Ile) c.*1576A>T (n.*1576A>T) c.1120A>T | |
| 15 | g.48445480T>C | CA392340180 | FBN1 | c.5813A>G (p.Asn1938Ser) n.4487A>G c.812A>G (p.Asn271Ser) c.*1576A>G (n.*1576A>G) c.1120A>G | |
| 15 | g.48445480T>G | CA392340178 | FBN1 | c.5813A>C (p.Asn1938Thr) n.4487A>C c.812A>C (p.Asn271Thr) c.*1576A>C (n.*1576A>C) c.1120A>C | |
| 15 | g.48445482del | CA055708 | FBN1 | c.5813del (p.Asn1938MetfsTer?) n.4487del c.812del (p.Asn271MetfsTer?) c.*1576del (n.*1576del) c.1120del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445481T>A | CA392340182 | FBN1 | c.5812A>T (p.Asn1938Tyr) n.4486A>T c.811A>T (p.Asn271Tyr) c.*1575A>T (n.*1575A>T) c.1119A>T | |
| 15 | g.48445481T>C | CA392340184 | FBN1 | c.5812A>G (p.Asn1938Asp) n.4486A>G c.811A>G (p.Asn271Asp) c.*1575A>G (n.*1575A>G) c.1119A>G | |
| 15 | g.48445481T>G | CA392340185 | FBN1 | c.5812A>C (p.Asn1938His) n.4486A>C c.811A>C (p.Asn271His) c.*1575A>C (n.*1575A>C) c.1119A>C | |
| 15 | g.48445482T>A | CA490022713 | FBN1 | c.5811A>T (p.Gly1937=) n.4485A>T c.810A>T (p.Gly270=) c.*1574A>T (n.*1574A>T) c.1118A>T | |
| 15 | g.48445482T>C | CA490022708 | FBN1 | c.5811A>G (p.Gly1937=) n.4485A>G c.810A>G (p.Gly270=) c.*1574A>G (n.*1574A>G) c.1118A>G | |
| 15 | g.48445482T>G | CA490022706 | FBN1 | c.5811A>C (p.Gly1937=) n.4485A>C c.810A>C (p.Gly270=) c.*1574A>C (n.*1574A>C) c.1118A>C | |
| 15 | g.48445483C>A | CA392340187 | FBN1 | c.5810G>T (p.Gly1937Val) n.4484G>T c.809G>T (p.Gly270Val) c.*1573G>T (n.*1573G>T) c.1117G>T | |
| 15 | g.48445483C= | CA2175492811 | FBN1 | c.5810G= (p.Gly1937=) n.4484G= c.809G= (p.Gly270=) c.*1573G= (n.*1573G=) c.1117G= | |
| 15 | g.48445483C>G | CA392340189 | FBN1 | c.5810G>C (p.Gly1937Ala) n.4484G>C c.809G>C (p.Gly270Ala) c.*1573G>C (n.*1573G>C) c.1117G>C | ClinVar dbSNP |
| 15 | g.48445483C>T | CA392340190 | FBN1 | c.5810G>A (p.Gly1937Glu) n.4484G>A c.809G>A (p.Gly270Glu) c.*1573G>A (n.*1573G>A) c.1117G>A | ClinVar dbSNP |
| 15 | g.48445484C>A | CA392340192 | FBN1 | c.5809G>T (p.Gly1937Ter) n.4483G>T c.808G>T (p.Gly270Ter) c.*1572G>T (n.*1572G>T) c.1116G>T | ClinVar dbSNP |
| 15 | g.48445484C= | CA2175492818 | FBN1 | c.5809G= (p.Gly1937=) n.4483G= c.808G= (p.Gly270=) c.*1572G= (n.*1572G=) c.1116G= | |
| 15 | g.48445484C>G | CA392340193 | FBN1 | c.5809G>C (p.Gly1937Arg) n.4483G>C c.808G>C (p.Gly270Arg) c.*1572G>C (n.*1572G>C) c.1116G>C | |
| 15 | g.48445484C>T | CA392340194 | FBN1 | c.5809G>A (p.Gly1937Arg) n.4483G>A c.808G>A (p.Gly270Arg) c.*1572G>A (n.*1572G>A) c.1116G>A | gnomAD v4 |
| 15 | g.48445485A>C | CA392340196 | FBN1 | c.5808T>G (p.Ser1936Arg) n.4482T>G c.807T>G (p.Ser269Arg) c.*1571T>G (n.*1571T>G) c.1115T>G | |
| 15 | g.48445485A>G | CA490022725 | FBN1 | c.5808T>C (p.Ser1936=) n.4482T>C c.807T>C (p.Ser269=) c.*1571T>C (n.*1571T>C) c.1115T>C | |
| 15 | g.48445485A>T | CA392340198 | FBN1 | c.5808T>A (p.Ser1936Arg) n.4482T>A c.807T>A (p.Ser269Arg) c.*1571T>A (n.*1571T>A) c.1115T>A | |
| 15 | g.48445486C>A | CA392340200 | FBN1 | c.5807G>T (p.Ser1936Ile) n.4481G>T c.806G>T (p.Ser269Ile) c.*1570G>T (n.*1570G>T) c.1114G>T | |
| 15 | g.48445486C>G | CA392340203 | FBN1 | c.5807G>C (p.Ser1936Thr) n.4481G>C c.806G>C (p.Ser269Thr) c.*1570G>C (n.*1570G>C) c.1114G>C | COSMIC |
| 15 | g.48445486C>T | CA392340201 | FBN1 | c.5807G>A (p.Ser1936Asn) n.4481G>A c.806G>A (p.Ser269Asn) c.*1570G>A (n.*1570G>A) c.1114G>A | gnomAD v4 COSMIC |
| 15 | g.48445487T>A | CA392340204 | FBN1 | c.5806A>T (p.Ser1936Cys) n.4480A>T c.805A>T (p.Ser269Cys) c.*1569A>T (n.*1569A>T) c.1113A>T | |
| 15 | g.48445487T>C | CA353660 | FBN1 | c.5806A>G (p.Ser1936Gly) n.4480A>G c.805A>G (p.Ser269Gly) c.*1569A>G (n.*1569A>G) c.1113A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445487T>G | CA392340206 | FBN1 | c.5806A>C (p.Ser1936Arg) n.4480A>C c.805A>C (p.Ser269Arg) c.*1569A>C (n.*1569A>C) c.1113A>C | |
| 15 | g.48445487T= | CA2175492830 | FBN1 | c.5806A= (p.Ser1936=) n.4480A= c.805A= (p.Ser269=) c.*1569A= (n.*1569A=) c.1113A= | |
| 15 | g.48445488T>A | CA490022739 | FBN1 | c.5805A>T (p.Ala1935=) n.4479A>T c.804A>T (p.Ala268=) c.*1568A>T (n.*1568A>T) c.1112A>T | |
| 15 | g.48445488T>C | CA490022742 | FBN1 | c.5805A>G (p.Ala1935=) n.4479A>G c.804A>G (p.Ala268=) c.*1568A>G (n.*1568A>G) c.1112A>G | |
| 15 | g.48445488T>G | CA055704 | FBN1 | c.5805A>C (p.Ala1935=) n.4479A>C c.804A>C (p.Ala268=) c.*1568A>C (n.*1568A>C) c.1112A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445488T= | CA2175492836 | FBN1 | c.5805A= (p.Ala1935=) n.4479A= c.804A= (p.Ala268=) c.*1568A= (n.*1568A=) c.1112A= | |
| 15 | g.48445489G>A | CA392340209 | FBN1 | c.5804C>T (p.Ala1935Val) n.4478C>T c.803C>T (p.Ala268Val) c.*1567C>T (n.*1567C>T) c.1111C>T | |
| 15 | g.48445489G>C | CA392340211 | FBN1 | c.5804C>G (p.Ala1935Gly) n.4478C>G c.803C>G (p.Ala268Gly) c.*1567C>G (n.*1567C>G) c.1111C>G | |
| 15 | g.48445489G>T | CA392340212 | FBN1 | c.5804C>A (p.Ala1935Glu) n.4478C>A c.803C>A (p.Ala268Glu) c.*1567C>A (n.*1567C>A) c.1111C>A | |
| 15 | g.48445490C>A | CA392340213 | FBN1 | c.5803G>T (p.Ala1935Ser) n.4477G>T c.802G>T (p.Ala268Ser) c.*1566G>T (n.*1566G>T) c.1110G>T | |
| 15 | g.48445490C>G | CA392340214 | FBN1 | c.5803G>C (p.Ala1935Pro) n.4477G>C c.802G>C (p.Ala268Pro) c.*1566G>C (n.*1566G>C) c.1110G>C | |
| 15 | g.48445490C>T | CA392340215 | FBN1 | c.5803G>A (p.Ala1935Thr) n.4477G>A c.802G>A (p.Ala268Thr) c.*1566G>A (n.*1566G>A) c.1110G>A | gnomAD v4 |
| 15 | g.48445491A>C | CA392340217 | FBN1 | c.5802T>G (p.Cys1934Trp) n.4476T>G c.801T>G (p.Cys267Trp) c.*1565T>G (n.*1565T>G) c.1109T>G | ClinVar dbSNP |
| 15 | g.48445491A>G | CA490022755 | FBN1 | c.5802T>C (p.Cys1934=) n.4476T>C c.801T>C (p.Cys267=) c.*1565T>C (n.*1565T>C) c.1109T>C | |
| 15 | g.48445491A>T | CA392340219 | FBN1 | c.5802T>A (p.Cys1934Ter) n.4476T>A c.801T>A (p.Cys267Ter) c.*1565T>A (n.*1565T>A) c.1109T>A | |
| 15 | g.48445492C>A | CA392340222 | FBN1 | c.5801G>T (p.Cys1934Phe) n.4475G>T c.800G>T (p.Cys267Phe) c.*1564G>T (n.*1564G>T) c.1108G>T | |
| 15 | g.48445492C= | CA2175492844 | FBN1 | c.5801G= (p.Cys1934=) n.4475G= c.800G= (p.Cys267=) c.*1564G= (n.*1564G=) c.1108G= | |
| 15 | g.48445492C>G | CA392340225 | FBN1 | c.5801G>C (p.Cys1934Ser) n.4475G>C c.800G>C (p.Cys267Ser) c.*1564G>C (n.*1564G>C) c.1108G>C | ClinVar dbSNP |
| 15 | g.48445492C>T | CA016083 | FBN1 | c.5801G>A (p.Cys1934Tyr) n.4475G>A c.800G>A (p.Cys267Tyr) c.*1564G>A (n.*1564G>A) c.1108G>A | ClinVar dbSNP |
| 15 | g.48445493A= | CA2175492851 | FBN1 | c.5800T= (p.Cys1934=) n.4474T= c.799T= (p.Cys267=) c.*1563T= (n.*1563T=) c.1107T= | |
| 15 | g.48445493A>C | CA392340227 | FBN1 | c.5800T>G (p.Cys1934Gly) n.4474T>G c.799T>G (p.Cys267Gly) c.*1563T>G (n.*1563T>G) c.1107T>G | |
| 15 | g.48445493A>G | CA392340228 | FBN1 | c.5800T>C (p.Cys1934Arg) n.4474T>C c.799T>C (p.Cys267Arg) c.*1563T>C (n.*1563T>C) c.1107T>C | ClinVar dbSNP |
| 15 | g.48445493A>T | CA392340230 | FBN1 | c.5800T>A (p.Cys1934Ser) n.4474T>A c.799T>A (p.Cys267Ser) c.*1563T>A (n.*1563T>A) c.1107T>A | ClinVar dbSNP |
| 15 | g.48445494T>A | CA392340232 | FBN1 | c.5799A>T (p.Glu1933Asp) n.4473A>T c.798A>T (p.Glu266Asp) c.*1562A>T (n.*1562A>T) c.1106A>T | gnomAD v4 |
| 15 | g.48445494T>C | CA490022773 | FBN1 | c.5799A>G (p.Glu1933=) n.4473A>G c.798A>G (p.Glu266=) c.*1562A>G (n.*1562A>G) c.1106A>G | dbSNP |
| 15 | g.48445494T>G | CA392340234 | FBN1 | c.5799A>C (p.Glu1933Asp) n.4473A>C c.798A>C (p.Glu266Asp) c.*1562A>C (n.*1562A>C) c.1106A>C | |
| 15 | g.48445494T= | CA2175492856 | FBN1 | c.5799A= (p.Glu1933=) n.4473A= c.798A= (p.Glu266=) c.*1562A= (n.*1562A=) c.1106A= | |
| 15 | g.48445495T>A | CA392340240 | FBN1 | c.5798A>T (p.Glu1933Val) n.4472A>T c.797A>T (p.Glu266Val) c.*1561A>T (n.*1561A>T) c.1105A>T | |
| 15 | g.48445495T>C | CA392340236 | FBN1 | c.5798A>G (p.Glu1933Gly) n.4472A>G c.797A>G (p.Glu266Gly) c.*1561A>G (n.*1561A>G) c.1105A>G | |
| 15 | g.48445495T>G | CA392340238 | FBN1 | c.5798A>C (p.Glu1933Ala) n.4472A>C c.797A>C (p.Glu266Ala) c.*1561A>C (n.*1561A>C) c.1105A>C | |
| 15 | g.48445498_48445500del | CA2695220239 | FBN1 | c.5796_5798del (p.Asp1932del) n.4470_4472del c.795_797del (p.Asp265del) c.*1559_*1561del (n.*1559_*1561del) c.1103_1105del | |
| 15 | g.48445496del | CA2695220241 | FBN1 | c.5797del (p.Glu1933AsnfsTer?) n.4471del c.796del (p.Glu266AsnfsTer?) c.*1560del (n.*1560del) c.1104del | |
| 15 | g.48445496C>A | CA392340242 | FBN1 | c.5797G>T (p.Glu1933Ter) n.4471G>T c.796G>T (p.Glu266Ter) c.*1560G>T (n.*1560G>T) c.1104G>T | |
| 15 | g.48445496C>G | CA392340244 | FBN1 | c.5797G>C (p.Glu1933Gln) n.4471G>C c.796G>C (p.Glu266Gln) c.*1560G>C (n.*1560G>C) c.1104G>C | |
| 15 | g.48445496C>T | CA392340245 | FBN1 | c.5797G>A (p.Glu1933Lys) n.4471G>A c.796G>A (p.Glu266Lys) c.*1560G>A (n.*1560G>A) c.1104G>A | ClinVar dbSNP |
| 15 | g.48445497A>C | CA392340248 | FBN1 | c.5796T>G (p.Asp1932Glu) n.4470T>G c.795T>G (p.Asp265Glu) c.*1559T>G (n.*1559T>G) c.1103T>G | |
| 15 | g.48445497A>G | CA490022778 | FBN1 | c.5796T>C (p.Asp1932=) n.4470T>C c.795T>C (p.Asp265=) c.*1559T>C (n.*1559T>C) c.1103T>C | |
| 15 | g.48445497A>T | CA392340250 | FBN1 | c.5796T>A (p.Asp1932Glu) n.4470T>A c.795T>A (p.Asp265Glu) c.*1559T>A (n.*1559T>A) c.1103T>A | |
| 15 | g.48445498T>A | CA392340251 | FBN1 | c.5795A>T (p.Asp1932Val) n.4469A>T c.794A>T (p.Asp265Val) c.*1558A>T (n.*1558A>T) c.1102A>T | |
| 15 | g.48445498T>C | CA392340255 | FBN1 | c.5795A>G (p.Asp1932Gly) n.4469A>G c.794A>G (p.Asp265Gly) c.*1558A>G (n.*1558A>G) c.1102A>G | dbSNP |
| 15 | g.48445498T>G | CA392340253 | FBN1 | c.5795A>C (p.Asp1932Ala) n.4469A>C c.794A>C (p.Asp265Ala) c.*1558A>C (n.*1558A>C) c.1102A>C | ClinVar dbSNP |
| 15 | g.48445498T= | CA2175492868 | FBN1 | c.5795A= (p.Asp1932=) n.4469A= c.794A= (p.Asp265=) c.*1558A= (n.*1558A=) c.1102A= | |
| 15 | g.48445499C>A | CA392340257 | FBN1 | c.5794G>T (p.Asp1932Tyr) n.4468G>T c.793G>T (p.Asp265Tyr) c.*1557G>T (n.*1557G>T) c.1101G>T | |
| 15 | g.48445499C>G | CA392340261 | FBN1 | c.5794G>C (p.Asp1932His) n.4468G>C c.793G>C (p.Asp265His) c.*1557G>C (n.*1557G>C) c.1101G>C | |
| 15 | g.48445499C>T | CA392340259 | FBN1 | c.5794G>A (p.Asp1932Asn) n.4468G>A c.793G>A (p.Asp265Asn) c.*1557G>A (n.*1557G>A) c.1101G>A | |
| 15 | g.48445501_48445503del | CA2695220242 | FBN1 | c.5792_5794del (p.Val1931del) n.4466_4468del c.791_793del (p.Val264del) c.*1555_*1557del (n.*1555_*1557del) c.1099_1101del | |
| 15 | g.48445499_48445512delinsCAACATCTGCAGAA | CA2175492875 | FBN1 | c.5789-8_5794delinsTTCTGCAGATGTTG n.4463-8_4468delinsTTCTGCAGATGTTG c.788-8_793delinsTTCTGCAGATGTTG c.*1552-8_*1557delinsTTCTGCAGATGTTG c.1096-8_1101delinsTTCTGCAGATGTTG | |
| 15 | g.48445500A>C | CA490022788 | FBN1 | c.5793T>G (p.Val1931=) n.4467T>G c.792T>G (p.Val264=) c.*1556T>G (n.*1556T>G) c.1100T>G | |
| 15 | g.48445500A>G | CA490022790 | FBN1 | c.5793T>C (p.Val1931=) n.4467T>C c.792T>C (p.Val264=) c.*1556T>C (n.*1556T>C) c.1100T>C | |
| 15 | g.48445500A>T | CA490022791 | FBN1 | c.5793T>A (p.Val1931=) n.4467T>A c.792T>A (p.Val264=) c.*1556T>A (n.*1556T>A) c.1100T>A | |
| 15 | g.48445502_48445514del | CA16619949 | FBN1 | c.5789-8_5793del n.4463-8_4467del c.788-8_792del c.*1552-8_*1556del c.1096-8_1100del | ClinVar dbSNP |
| 15 | g.48445501A>C | CA392340263 | FBN1 | c.5792T>G (p.Val1931Gly) n.4466T>G c.791T>G (p.Val264Gly) c.*1555T>G (n.*1555T>G) c.1099T>G | |
| 15 | g.48445501A>G | CA392340267 | FBN1 | c.5792T>C (p.Val1931Ala) n.4466T>C c.791T>C (p.Val264Ala) c.*1555T>C (n.*1555T>C) c.1099T>C | |
| 15 | g.48445501A>T | CA392340265 | FBN1 | c.5792T>A (p.Val1931Asp) n.4466T>A c.791T>A (p.Val264Asp) c.*1555T>A (n.*1555T>A) c.1099T>A | |
| 15 | g.48445502C>A | CA392340270 | FBN1 | c.5791G>T (p.Val1931Phe) n.4465G>T c.790G>T (p.Val264Phe) c.*1554G>T (n.*1554G>T) c.1098G>T | |
| 15 | g.48445502C= | CA2175492890 | FBN1 | c.5791G= (p.Val1931=) n.4465G= c.790G= (p.Val264=) c.*1554G= (n.*1554G=) c.1098G= | |
| 15 | g.48445502C>G | CA392340271 | FBN1 | c.5791G>C (p.Val1931Leu) n.4465G>C c.790G>C (p.Val264Leu) c.*1554G>C (n.*1554G>C) c.1098G>C | |
| 15 | g.48445502C>T | CA392340272 | FBN1 | c.5791G>A (p.Val1931Ile) n.4465G>A c.790G>A (p.Val264Ile) c.*1554G>A (n.*1554G>A) c.1098G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48445503A>C | CA392340275 | FBN1 | c.5790T>G (p.Asp1930Glu) n.4464T>G c.789T>G (p.Asp263Glu) c.*1553T>G (n.*1553T>G) c.1097T>G | |
| 15 | g.48445503A>G | CA490022801 | FBN1 | c.5790T>C (p.Asp1930=) n.4464T>C c.789T>C (p.Asp263=) c.*1553T>C (n.*1553T>C) c.1097T>C | |
| 15 | g.48445503A>T | CA392340276 | FBN1 | c.5790T>A (p.Asp1930Glu) n.4464T>A c.789T>A (p.Asp263Glu) c.*1553T>A (n.*1553T>A) c.1097T>A | |
| 15 | g.48445504T>A | CA392340278 | FBN1 | c.5789A>T (p.Asp1930Val) n.4463A>T c.788A>T (p.Asp263Val) c.*1552A>T (n.*1552A>T) c.1096A>T | |
| 15 | g.48445504T>C | CA392340280 | FBN1 | c.5789A>G (p.Asp1930Gly) n.4463A>G c.788A>G (p.Asp263Gly) c.*1552A>G (n.*1552A>G) c.1096A>G | ClinVar |
| 15 | g.48445504T>G | CA392340283 | FBN1 | c.5789A>C (p.Asp1930Ala) n.4463A>C c.788A>C (p.Asp263Ala) c.*1552A>C (n.*1552A>C) c.1096A>C | |
| 15 | g.48445505C>A | CA392340285 | FBN1 | c.5789-1G>T (n.5789-1G>T) n.4463-1G>T c.788-1G>T (n.788-1G>T) c.*1552-1G>T (n.*1552-1G>T) c.1096-1G>T | |
| 15 | g.48445505C= | CA2175492902 | FBN1 | c.5789-1G= (n.5789-1G=) n.4463-1G= c.788-1G= (n.788-1G=) c.*1552-1G= (n.*1552-1G=) c.1096-1G= | |
| 15 | g.48445505C>G | CA392340286 | FBN1 | c.5789-1G>C (n.5789-1G>C) n.4463-1G>C c.788-1G>C (n.788-1G>C) c.*1552-1G>C (n.*1552-1G>C) c.1096-1G>C | |
| 15 | g.48445505C>T | CA392340288 | FBN1 | c.5789-1G>A (n.5789-1G>A) n.4463-1G>A c.788-1G>A (n.788-1G>A) c.*1552-1G>A (n.*1552-1G>A) c.1096-1G>A | ClinVar dbSNP |
| 15 | g.48445506T>A | CA392340293 | FBN1 | c.5789-2A>T (n.5789-2A>T) n.4463-2A>T c.788-2A>T (n.788-2A>T) c.*1552-2A>T (n.*1552-2A>T) c.1096-2A>T | |
| 15 | g.48445506T>C | CA10587813 | FBN1 | c.5789-2A>G (n.5789-2A>G) n.4463-2A>G c.788-2A>G (n.788-2A>G) c.*1552-2A>G (n.*1552-2A>G) c.1096-2A>G | ClinVar dbSNP |
| 15 | g.48445506T>G | CA392340291 | FBN1 | c.5789-2A>C (n.5789-2A>C) n.4463-2A>C c.788-2A>C (n.788-2A>C) c.*1552-2A>C (n.*1552-2A>C) c.1096-2A>C | |
| 15 | g.48445506T= | CA2175492907 | FBN1 | c.5789-2A= (n.5789-2A=) n.4463-2A= c.788-2A= (n.788-2A=) c.*1552-2A= (n.*1552-2A=) c.1096-2A= | |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATT | CA2628347635 | FBN1 | c.5789-2_5789-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.5789-2_5789-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) n.4463-2_4463-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA c.788-2_788-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.788-2_788-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) c.*1552-2_*1552-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA (n.*1552-2_*1552-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA) c.1096-2_1096-1insATCATGGTTTCATCCTTTCTCACAACAATGACTGTATA | gnomAD v4 |
| 15 | g.48445506_48445507insATACA | CA2628347637 | FBN1 | c.5789-3_5789-2insTGTAT (n.5789-3_5789-2insTGTAT) n.4463-3_4463-2insTGTAT c.788-3_788-2insTGTAT (n.788-3_788-2insTGTAT) c.*1552-3_*1552-2insTGTAT (n.*1552-3_*1552-2insTGTAT) c.1096-3_1096-2insTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCG | CA2628347638 | FBN1 | c.5789-3_5789-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCG | CA2628347636 | FBN1 | c.5789-3_5789-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v4 |
| 15 | g.48445506_48445507insATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCACAG | CA617837075 | FBN1 | c.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.5789-3_5789-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) n.4463-3_4463-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT c.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.788-3_788-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT (n.*1552-3_*1552-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT) c.1096-3_1096-2insCTGTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGACTGTAT | gnomAD v2 gnomAD v4 |
| 15 | g.48445507G>A | CA617837076 | FBN1 | c.5789-3C>T (n.5789-3C>T) n.4463-3C>T c.788-3C>T (n.788-3C>T) c.*1552-3C>T (n.*1552-3C>T) c.1096-3C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48445507G= | CA2175492911 | FBN1 | c.5789-3C= (n.5789-3C=) n.4463-3C= c.788-3C= (n.788-3C=) c.*1552-3C= (n.*1552-3C=) c.1096-3C= | |
| 15 | g.48445507G>T | CA2695220244 | FBN1 | c.5789-3C>A (n.5789-3C>A) n.4463-3C>A c.788-3C>A (n.788-3C>A) c.*1552-3C>A (n.*1552-3C>A) c.1096-3C>A | |
| 15 | g.48445507_48445508insTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACCAATTGTGTTCCGGCAAGTTCCATTCCCA | CA2628347639 | FBN1 | c.5789-4_5789-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.5789-4_5789-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) n.4463-4_4463-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA c.788-4_788-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.788-4_788-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) c.*1552-4_*1552-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA (n.*1552-4_*1552-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA) c.1096-4_1096-3insTGGGAATGGAACTTGCCGGAACACAATTGGTTCCTTCAACTGCCGCTGCAATCATGGTTTCATCCTTTCTCACAACAATGA | gnomAD v4 |
| 15 | g.48445508C>T | CA2575716715 | FBN1 | c.5789-4G>A (n.5789-4G>A) n.4463-4G>A c.788-4G>A (n.788-4G>A) c.*1552-4G>A (n.*1552-4G>A) c.1096-4G>A | |
| 15 | g.48445510G>A | CA2175492915 | FBN1 | c.5789-6C>T (n.5789-6C>T) n.4463-6C>T c.788-6C>T (n.788-6C>T) c.*1552-6C>T (n.*1552-6C>T) c.1096-6C>T | dbSNP |
| 15 | g.48445510G= | CA2175492914 | FBN1 | c.5789-6C= (n.5789-6C=) n.4463-6C= c.788-6C= (n.788-6C=) c.*1552-6C= (n.*1552-6C=) c.1096-6C= | |
| 15 | g.48445510_48445511insCGG | CA2628347640 | FBN1 | c.5789-6_5789-5insCGC (n.5789-6_5789-5insCGC) n.4463-6_4463-5insCGC c.788-6_788-5insCGC (n.788-6_788-5insCGC) c.*1552-6_*1552-5insCGC (n.*1552-6_*1552-5insCGC) c.1096-6_1096-5insCGC | gnomAD v4 |
| 15 | g.48445511A>G | CA2575716718 | FBN1 | c.5789-7T>C (n.5789-7T>C) n.4463-7T>C c.788-7T>C (n.788-7T>C) c.*1552-7T>C (n.*1552-7T>C) c.1096-7T>C | |
| 15 | g.48445513_48445519delinsT | CA2695220245 | FBN1 | c.5789-15_5789-9delinsA (n.5789-15_5789-9delinsA) n.4463-15_4463-9delinsA c.788-15_788-9delinsA (n.788-15_788-9delinsA) c.*1552-15_*1552-9delinsA (n.*1552-15_*1552-9delinsA) c.1096-15_1096-9delinsA | |
| 15 | g.48445514A>T | CA2573150958 | FBN1 | c.5789-10T>A (n.5789-10T>A) n.4463-10T>A c.788-10T>A (n.788-10T>A) c.*1552-10T>A (n.*1552-10T>A) c.1096-10T>A | ClinVar dbSNP |
| 15 | g.48445515A>C | CA2740096636 | FBN1 | c.5789-11T>G (n.5789-11T>G) n.4463-11T>G c.788-11T>G (n.788-11T>G) c.*1552-11T>G (n.*1552-11T>G) c.1096-11T>G | ClinVar |
| 15 | g.48445517C>A | CA055672 | FBN1 | c.5789-13G>T (n.5789-13G>T) n.4463-13G>T c.788-13G>T (n.788-13G>T) c.*1552-13G>T (n.*1552-13G>T) c.1096-13G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445517C= | CA2175492920 | FBN1 | c.5789-13G= (n.5789-13G=) n.4463-13G= c.788-13G= (n.788-13G=) c.*1552-13G= (n.*1552-13G=) c.1096-13G= | |
| 15 | g.48445517C>T | CA055665 | FBN1 | c.5789-13G>A (n.5789-13G>A) n.4463-13G>A c.788-13G>A (n.788-13G>A) c.*1552-13G>A (n.*1552-13G>A) c.1096-13G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48445518C>T | CA2740096637 | FBN1 | c.5789-14G>A (n.5789-14G>A) n.4463-14G>A c.788-14G>A (n.788-14G>A) c.*1552-14G>A (n.*1552-14G>A) c.1096-14G>A | ClinVar |
| 15 | g.48445519C>T | CA2695220246 | FBN1 | c.5789-15G>A (n.5789-15G>A) n.4463-15G>A c.788-15G>A (n.788-15G>A) c.*1552-15G>A (n.*1552-15G>A) c.1096-15G>A | |
| 15 | g.48445521A= | CA2175492927 | FBN1 | c.5789-17T= (n.5789-17T=) n.4463-17T= c.788-17T= (n.788-17T=) c.*1552-17T= (n.*1552-17T=) c.1096-17T= | |
| 15 | g.48445521A>G | CA617837079 | FBN1 | c.5789-17T>C (n.5789-17T>C) n.4463-17T>C c.788-17T>C (n.788-17T>C) c.*1552-17T>C (n.*1552-17T>C) c.1096-17T>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445523C>A | CA2628347641 | FBN1 | c.5789-19G>T (n.5789-19G>T) n.4463-19G>T c.788-19G>T (n.788-19G>T) c.*1552-19G>T (n.*1552-19G>T) c.1096-19G>T | gnomAD v4 |
| 15 | g.48445523C= | CA2175492929 | FBN1 | c.5789-19G= (n.5789-19G=) n.4463-19G= c.788-19G= (n.788-19G=) c.*1552-19G= (n.*1552-19G=) c.1096-19G= | |
| 15 | g.48445523C>G | CA617837081 | FBN1 | c.5789-19G>C (n.5789-19G>C) n.4463-19G>C c.788-19G>C (n.788-19G>C) c.*1552-19G>C (n.*1552-19G>C) c.1096-19G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48445526T>C | CA2628347642 | FBN1 | c.5789-22A>G (n.5789-22A>G) n.4463-22A>G c.788-22A>G (n.788-22A>G) c.*1552-22A>G (n.*1552-22A>G) c.1096-22A>G | gnomAD v4 |
| 15 | g.48445528C>T | CA2628347643 | FBN1 | c.5789-24G>A (n.5789-24G>A) n.4463-24G>A c.788-24G>A (n.788-24G>A) c.*1552-24G>A (n.*1552-24G>A) c.1096-24G>A | gnomAD v4 |
| 15 | g.48445529T>G | CA2741427169 | FBN1 | c.5789-25A>C (n.5789-25A>C) n.4463-25A>C c.788-25A>C (n.788-25A>C) c.*1552-25A>C (n.*1552-25A>C) c.1096-25A>C | |
| 15 | g.48445529_48445531del | CA2804070419 | FBN1 | c.5789-27_5789-25del (n.5789-27_5789-25del) n.4463-27_4463-25del c.788-27_788-25del (n.788-27_788-25del) c.*1552-27_*1552-25del (n.*1552-27_*1552-25del) c.1096-27_1096-25del | |
| 15 | g.48445531del | CA2804070418 | FBN1 | c.5789-25del (n.5789-25del) n.4463-25del c.788-25del (n.788-25del) c.*1552-25del (n.*1552-25del) c.1096-25del |