| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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= |