| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474593_48474594insGTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT | CA915946000 | FBN1 | c.4036_4037insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Phe1346TyrfsTer3) n.2710_2711insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT c.708_709insACATTTGAAGCTTCCTGCTGTATTGGTACATACAGCAGGAAGCT (p.Ser237ThrfsTer18) | ClinVar dbSNP |
| 15 | g.48474589T>A | CA490015261 | FBN1 | c.4026A>T (p.Thr1342=) n.2700A>T c.698A>T (p.Gln233Leu) | |
| 15 | g.48474589T>C | CA051902 | FBN1 | c.4026A>G (p.Thr1342=) n.2700A>G c.698A>G (p.Gln233Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474589T>G | CA490015262 | FBN1 | c.4026A>C (p.Thr1342=) n.2700A>C c.698A>C (p.Gln233Pro) | |
| 15 | g.48474589T= | CA2175496204 | FBN1 | c.4026A= (p.Thr1342=) n.2700A= c.698A= (p.Gln233=) | |
| 15 | g.48474590G>A | CA392320533 | FBN1 | c.4025C>T (p.Thr1342Ile) n.2699C>T c.697C>T (p.Gln233Ter) | |
| 15 | g.48474590G>C | CA392320534 | FBN1 | c.4025C>G (p.Thr1342Arg) n.2699C>G c.697C>G (p.Gln233Glu) | gnomAD v4 |
| 15 | g.48474590G>T | CA392320535 | FBN1 | c.4025C>A (p.Thr1342Lys) n.2699C>A c.697C>A (p.Gln233Lys) | |
| 15 | g.48474591T>A | CA392320536 | FBN1 | c.4024A>T (p.Thr1342Ser) n.2698A>T c.696A>T (p.Ile232=) | |
| 15 | g.48474591T>C | CA392320537 | FBN1 | c.4024A>G (p.Thr1342Ala) n.2698A>G c.696A>G (p.Ile232Met) | COSMIC |
| 15 | g.48474591T>G | CA392320538 | FBN1 | c.4024A>C (p.Thr1342Pro) n.2698A>C c.696A>C (p.Ile232=) | ClinVar dbSNP |
| 15 | g.48474591dup | CA2695220640 | FBN1 | c.4024dup (p.Thr1342AsnfsTer8) n.2698dup c.696dup (p.Gln233ThrfsTer?) | ClinVar |
| 15 | g.48474592A= | CA2175496214 | FBN1 | c.4023T= (p.Asn1341=) n.2697T= c.695T= (p.Ile232=) | |
| 15 | g.48474592A>C | CA392320539 | FBN1 | c.4023T>G (p.Asn1341Lys) n.2697T>G c.695T>G (p.Ile232Arg) | |
| 15 | g.48474592A>G | CA490015265 | FBN1 | c.4023T>C (p.Asn1341=) n.2697T>C c.695T>C (p.Ile232Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474592A>T | CA392320540 | FBN1 | c.4023T>A (p.Asn1341Lys) n.2697T>A c.695T>A (p.Ile232Lys) | |
| 15 | g.48474593T>A | CA392320542 | FBN1 | c.4022A>T (p.Asn1341Ile) n.2696A>T c.694A>T (p.Ile232Leu) | |
| 15 | g.48474593T>C | CA269520550 | FBN1 | c.4022A>G (p.Asn1341Ser) n.2696A>G c.694A>G (p.Ile232Val) | ClinVar dbSNP |
| 15 | g.48474593T>G | CA392320541 | FBN1 | c.4022A>C (p.Asn1341Thr) n.2696A>C c.694A>C (p.Ile232Leu) | |
| 15 | g.48474593T= | CA2175496223 | FBN1 | c.4022A= (p.Asn1341=) n.2696A= c.694A= (p.Ile232=) | |
| 15 | g.48474594T>A | CA392320543 | FBN1 | c.4021A>T (p.Asn1341Tyr) n.2695A>T c.693A>T (p.Pro231=) | |
| 15 | g.48474594T>C | CA392320545 | FBN1 | c.4021A>G (p.Asn1341Asp) n.2695A>G c.693A>G (p.Pro231=) | |
| 15 | g.48474594T>G | CA392320544 | FBN1 | c.4021A>C (p.Asn1341His) n.2695A>C c.693A>C (p.Pro231=) | |
| 15 | g.48474594_48474595del | CA2575717301 | FBN1 | c.4020_4021del (p.Asn1341TyrfsTer8) n.2694_2695del c.692_693del (p.Pro231HisfsTer?) | |
| 15 | g.48474595G>A | CA490015267 | FBN1 | c.4020C>T (p.Thr1340=) n.2694C>T c.692C>T (p.Pro231Leu) | dbSNP |
| 15 | g.48474595G>C | CA490015268 | FBN1 | c.4020C>G (p.Thr1340=) n.2694C>G c.692C>G (p.Pro231Arg) | |
| 15 | g.48474595G= | CA2175496239 | FBN1 | c.4020C= (p.Thr1340=) n.2694C= c.692C= (p.Pro231=) | |
| 15 | g.48474595G>T | CA490015269 | FBN1 | c.4020C>A (p.Thr1340=) n.2694C>A c.692C>A (p.Pro231Gln) | |
| 15 | g.48474596del | CA16602234 | FBN1 | c.4020del (p.Asn1341IlefsTer?) n.2694del c.692del (p.Pro231GlnfsTer9) | ClinVar dbSNP |
| 15 | g.48474596G>A | CA392320546 | FBN1 | c.4019C>T (p.Thr1340Ile) n.2693C>T c.691C>T (p.Pro231Ser) | |
| 15 | g.48474596G>C | CA392320547 | FBN1 | c.4019C>G (p.Thr1340Ser) n.2693C>G c.691C>G (p.Pro231Ala) | |
| 15 | g.48474596G>T | CA392320548 | FBN1 | c.4019C>A (p.Thr1340Asn) n.2693C>A c.691C>A (p.Pro231Thr) | |
| 15 | g.48474597T>A | CA392320549 | FBN1 | c.4018A>T (p.Thr1340Ser) n.2692A>T c.690A>T (p.Val230=) | |
| 15 | g.48474597T>C | CA051896 | FBN1 | c.4018A>G (p.Thr1340Ala) n.2692A>G c.690A>G (p.Val230=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474597T>G | CA392320550 | FBN1 | c.4018A>C (p.Thr1340Pro) n.2692A>C c.690A>C (p.Val230=) | |
| 15 | g.48474597T= | CA2175496243 | FBN1 | c.4018A= (p.Thr1340=) n.2692A= c.690A= (p.Val230=) | |
| 15 | g.48474598A>C | CA392320551 | FBN1 | c.4017T>G (p.Cys1339Trp) n.2691T>G c.689T>G (p.Val230Gly) | |
| 15 | g.48474598A>G | CA490015272 | FBN1 | c.4017T>C (p.Cys1339=) n.2691T>C c.689T>C (p.Val230Ala) | |
| 15 | g.48474598A>T | CA392320552 | FBN1 | c.4017T>A (p.Cys1339Ter) n.2691T>A c.689T>A (p.Val230Glu) | |
| 15 | g.48474599C>A | CA392320553 | FBN1 | c.4016G>T (p.Cys1339Phe) n.2690G>T c.688G>T (p.Val230Leu) | |
| 15 | g.48474599C= | CA2175496258 | FBN1 | c.4016G= (p.Cys1339=) n.2690G= c.688G= (p.Val230=) | |
| 15 | g.48474599C>G | CA014696 | FBN1 | c.4016G>C (p.Cys1339Ser) n.2690G>C c.688G>C (p.Val230Leu) | ClinVar dbSNP |
| 15 | g.48474599C>T | CA392320554 | FBN1 | c.4016G>A (p.Cys1339Tyr) n.2690G>A c.688G>A (p.Val230Ile) | ClinVar dbSNP |
| 15 | g.48474599_48474600insCA | CA2575717303 | FBN1 | c.4015_4016insTG (p.Cys1339LeufsTer?) n.2689_2690insTG c.687_688insTG (p.Val230TrpfsTer11) | |
| 15 | g.48474600A>C | CA392320557 | FBN1 | c.4015T>G (p.Cys1339Gly) n.2689T>G c.687T>G (p.Tyr229Ter) | |
| 15 | g.48474600A>G | CA392320555 | FBN1 | c.4015T>C (p.Cys1339Arg) n.2689T>C c.687T>C (p.Tyr229=) | |
| 15 | g.48474600A>T | CA392320556 | FBN1 | c.4015T>A (p.Cys1339Ser) n.2689T>A c.687T>A (p.Tyr229Ter) | |
| 15 | g.48474600_48474601insGC | CA2804071445 | FBN1 | c.4014_4015insGC (p.Cys1339AlafsTer?) n.2688_2689insGC c.686_687insGC (p.Tyr229Ter) | |
| 15 | g.48474601T>A | CA490015276 | FBN1 | c.4014A>T (p.Val1338=) n.2688A>T c.686A>T (p.Tyr229Phe) | |
| 15 | g.48474601T>C | CA051889 | FBN1 | c.4014A>G (p.Val1338=) n.2688A>G c.686A>G (p.Tyr229Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474601T>G | CA490015277 | FBN1 | c.4014A>C (p.Val1338=) n.2688A>C c.686A>C (p.Tyr229Ser) | |
| 15 | g.48474601T= | CA2175496271 | FBN1 | c.4014A= (p.Val1338=) n.2688A= c.686A= (p.Tyr229=) | |
| 15 | g.48474602A>C | CA392320558 | FBN1 | c.4013T>G (p.Val1338Gly) n.2687T>G c.685T>G (p.Tyr229Asp) | |
| 15 | g.48474602A>G | CA392320559 | FBN1 | c.4013T>C (p.Val1338Ala) n.2687T>C c.685T>C (p.Tyr229His) | |
| 15 | g.48474602A>T | CA392320560 | FBN1 | c.4013T>A (p.Val1338Glu) n.2687T>A c.685T>A (p.Tyr229Asn) | |
| 15 | g.48474602_48474603insGTATTTCTTTTGCTAGTATTTTTAGTAAGTCAACTATGGAGTAATGATGCACATTATTTTCATATCTTGTATAGA | CA2804071449 | FBN1 | c.4013_4014insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT (p.Val1338_Cys1339insTyrThrArgTyrGluAsnAsnValHisHisTyrSerIleValAspLeuLeuLysIleLeuAlaLysGluIleLeu) n.2687_2688insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT c.685_686insCTATACAAGATATGAAAATAATGTGCATCATTACTCCATAGTTGACTTACTAAAAATACTAGCAAAAGAAATACT (p.Tyr229SerfsTer14) | |
| 15 | g.48474603C>A | CA392320561 | FBN1 | c.4012G>T (p.Val1338Leu) n.2686G>T c.684G>T (p.Leu228=) | |
| 15 | g.48474603C= | CA2175496277 | FBN1 | c.4012G= (p.Val1338=) n.2686G= c.684G= (p.Leu228=) | |
| 15 | g.48474603C>G | CA392320562 | FBN1 | c.4012G>C (p.Val1338Leu) n.2686G>C c.684G>C (p.Leu228=) | |
| 15 | g.48474603C>T | CA392320563 | FBN1 | c.4012G>A (p.Val1338Ile) n.2686G>A c.684G>A (p.Leu228=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474603_48474604delinsCA | CA2175496285 | FBN1 | c.4011_4012delinsTG (p.Ala1337=) n.2685_2686delinsTG c.683_684delinsTG (p.Leu228=) | |
| 15 | g.48474604del | CA916082396 | FBN1 | c.4011del (p.Val1338TyrfsTer?) n.2685del c.683del (p.Leu228ArgfsTer12) | ClinVar dbSNP |
| 15 | g.48474604A>C | CA490015281 | FBN1 | c.4011T>G (p.Ala1337=) n.2685T>G c.683T>G (p.Leu228Arg) | |
| 15 | g.48474604A>G | CA490015282 | FBN1 | c.4011T>C (p.Ala1337=) n.2685T>C c.683T>C (p.Leu228Pro) | ClinVar |
| 15 | g.48474604A>T | CA490015283 | FBN1 | c.4011T>A (p.Ala1337=) n.2685T>A c.683T>A (p.Leu228Gln) | |
| 15 | g.48474604dup | CA2740096597 | FBN1 | c.4011dup (p.Val1338CysfsTer12) n.2685dup c.683dup (p.Tyr229ValfsTer?) | ClinVar |
| 15 | g.48474605G>A | CA392320564 | FBN1 | c.4010C>T (p.Ala1337Val) n.2684C>T c.682C>T (p.Leu228=) | ClinVar dbSNP |
| 15 | g.48474605G>C | CA392320565 | FBN1 | c.4010C>G (p.Ala1337Gly) n.2684C>G c.682C>G (p.Leu228Val) | |
| 15 | g.48474605G= | CA2175496301 | FBN1 | c.4010C= (p.Ala1337=) n.2684C= c.682C= (p.Leu228=) | |
| 15 | g.48474605G>T | CA269520558 | FBN1 | c.4010C>A (p.Ala1337Asp) n.2684C>A c.682C>A (p.Leu228Met) | dbSNP |
| 15 | g.48474606_48474609del | CA2697549055 | FBN1 | c.4007_4010del (p.His1336LeufsTer?) n.2681_2684del c.679_682del (p.Met227CysfsTer12) | ClinVar |
| 15 | g.48474606C>A | CA392320566 | FBN1 | c.4009G>T (p.Ala1337Ser) n.2683G>T c.681G>T (p.Met227Ile) | |
| 15 | g.48474606C= | CA2175496312 | FBN1 | c.4009G= (p.Ala1337=) n.2683G= c.681G= (p.Met227=) | |
| 15 | g.48474606C>G | CA392320567 | FBN1 | c.4009G>C (p.Ala1337Pro) n.2683G>C c.681G>C (p.Met227Ile) | ClinVar dbSNP |
| 15 | g.48474606C>T | CA051879 | FBN1 | c.4009G>A (p.Ala1337Thr) n.2683G>A c.681G>A (p.Met227Ile) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474607A>C | CA392320568 | FBN1 | c.4008T>G (p.His1336Gln) n.2682T>G c.680T>G (p.Met227Arg) | |
| 15 | g.48474607A>G | CA490015285 | FBN1 | c.4008T>C (p.His1336=) n.2682T>C c.680T>C (p.Met227Thr) | |
| 15 | g.48474607A>T | CA392320569 | FBN1 | c.4008T>A (p.His1336Gln) n.2682T>A c.680T>A (p.Met227Lys) | dbSNP |
| 15 | g.48474608T>A | CA392320570 | FBN1 | c.4007A>T (p.His1336Leu) n.2681A>T c.679A>T (p.Met227Leu) | |
| 15 | g.48474608T>C | CA10587832 | FBN1 | c.4007A>G (p.His1336Arg) n.2681A>G c.679A>G (p.Met227Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474608T>G | CA392320571 | FBN1 | c.4007A>C (p.His1336Pro) n.2681A>C c.679A>C (p.Met227Leu) | |
| 15 | g.48474608T= | CA2175496320 | FBN1 | c.4007A= (p.His1336=) n.2681A= c.679A= (p.Met227=) | |
| 15 | g.48474609G>A | CA392320574 | FBN1 | c.4006C>T (p.His1336Tyr) n.2680C>T c.678C>T (p.Asn226=) | gnomAD v4 |
| 15 | g.48474609G>C | CA392320572 | FBN1 | c.4006C>G (p.His1336Asp) n.2680C>G c.678C>G (p.Asn226Lys) | |
| 15 | g.48474609G>T | CA392320573 | FBN1 | c.4006C>A (p.His1336Asn) n.2680C>A c.678C>A (p.Asn226Lys) | |
| 15 | g.48474610T>A | CA392320575 | FBN1 | c.4005A>T (p.Lys1335Asn) n.2679A>T c.677A>T (p.Asn226Ile) | |
| 15 | g.48474610T>C | CA490015287 | FBN1 | c.4005A>G (p.Lys1335=) n.2679A>G c.677A>G (p.Asn226Ser) | |
| 15 | g.48474610T>G | CA392320576 | FBN1 | c.4005A>C (p.Lys1335Asn) n.2679A>C c.677A>C (p.Asn226Thr) | |
| 15 | g.48474612del | CA2695220641 | FBN1 | c.4005del (p.Lys1335AsnfsTer?) n.2679del c.677del (p.Asn226ThrfsTer14) | |
| 15 | g.48474611T>A | CA392320577 | FBN1 | c.4004A>T (p.Lys1335Ile) n.2678A>T c.676A>T (p.Asn226Tyr) | |
| 15 | g.48474611T>C | CA392320578 | FBN1 | c.4004A>G (p.Lys1335Arg) n.2678A>G c.676A>G (p.Asn226Asp) | |
| 15 | g.48474611T>G | CA392320579 | FBN1 | c.4004A>C (p.Lys1335Thr) n.2678A>C c.676A>C (p.Asn226His) | |
| 15 | g.48474611T= | CA2175496327 | FBN1 | c.4004A= (p.Lys1335=) n.2678A= c.676A= (p.Asn226=) | |
| 15 | g.48474612T>A | CA392320580 | FBN1 | c.4003A>T (p.Lys1335Ter) n.2677A>T c.675A>T (p.Ala225=) | |
| 15 | g.48474612T>C | CA392320582 | FBN1 | c.4003A>G (p.Lys1335Glu) n.2677A>G c.675A>G (p.Ala225=) | |
| 15 | g.48474612T>G | CA392320581 | FBN1 | c.4003A>C (p.Lys1335Gln) n.2677A>C c.675A>C (p.Ala225=) | |
| 15 | g.48474612_48474613del | CA2573150763 | FBN1 | c.4002_4003del (p.Lys1335ThrfsTer14) n.2676_2677del c.674_675del (p.Ala225GlufsTer?) | ClinVar dbSNP |
| 15 | g.48474616_48474617insGAGTTGTGTGCCA | CA658798361 | FBN1 | c.4003_4004insCACAACTCTGGCA (p.Lys1335ThrfsTer19) n.2677_2678insCACAACTCTGGCA c.675_676insCACAACTCTGGCA (p.Asn226HisfsTer?) | ClinVar dbSNP |
| 15 | g.48474613G>A | CA490015292 | FBN1 | c.4002C>T (p.Gly1334=) n.2676C>T c.674C>T (p.Ala225Val) | |
| 15 | g.48474613G>C | CA490015291 | FBN1 | c.4002C>G (p.Gly1334=) n.2676C>G c.674C>G (p.Ala225Gly) | |
| 15 | g.48474613G>T | CA490015290 | FBN1 | c.4002C>A (p.Gly1334=) n.2676C>A c.674C>A (p.Ala225Glu) | |
| 15 | g.48474614C>A | CA392320583 | FBN1 | c.4001G>T (p.Gly1334Val) n.2675G>T c.673G>T (p.Ala225Ser) | |
| 15 | g.48474614C= | CA2175496344 | FBN1 | c.4001G= (p.Gly1334=) n.2675G= c.673G= (p.Ala225=) | |
| 15 | g.48474614C>G | CA392320584 | FBN1 | c.4001G>C (p.Gly1334Ala) n.2675G>C c.673G>C (p.Ala225Pro) | |
| 15 | g.48474614C>T | CA014688 | FBN1 | c.4001G>A (p.Gly1334Asp) n.2675G>A c.673G>A (p.Ala225Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474615C>A | CA392320585 | FBN1 | c.4000G>T (p.Gly1334Cys) n.2674G>T c.672G>T (p.Val224=) | |
| 15 | g.48474615C>G | CA392320586 | FBN1 | c.4000G>C (p.Gly1334Arg) n.2674G>C c.672G>C (p.Val224=) | |
| 15 | g.48474615C>T | CA392320587 | FBN1 | c.4000G>A (p.Gly1334Ser) n.2674G>A c.672G>A (p.Val224=) | |
| 15 | g.48474617_48474618del | CA2740096598 | FBN1 | c.3999_4000del (p.Cys1333TrpfsTer16) n.2673_2674del c.671_672del (p.Val224GlyfsTer?) | ClinVar |
| 15 | g.48474616A>C | CA392320588 | FBN1 | c.3999T>G (p.Cys1333Trp) n.2673T>G c.671T>G (p.Val224Gly) | |
| 15 | g.48474616A>G | CA490015297 | FBN1 | c.3999T>C (p.Cys1333=) n.2673T>C c.671T>C (p.Val224Ala) | |
| 15 | g.48474616A>T | CA392320589 | FBN1 | c.3999T>A (p.Cys1333Ter) n.2673T>A c.671T>A (p.Val224Glu) | |
| 15 | g.48474617C>A | CA392320590 | FBN1 | c.3998G>T (p.Cys1333Phe) n.2672G>T c.670G>T (p.Val224Leu) | |
| 15 | g.48474617C= | CA2175496352 | FBN1 | c.3998G= (p.Cys1333=) n.2672G= c.670G= (p.Val224=) | |
| 15 | g.48474617C>G | CA392320591 | FBN1 | c.3998G>C (p.Cys1333Ser) n.2672G>C c.670G>C (p.Val224Leu) | dbSNP |
| 15 | g.48474617C>T | CA392320592 | FBN1 | c.3998G>A (p.Cys1333Tyr) n.2672G>A c.670G>A (p.Val224Met) | ClinVar |
| 15 | g.48474618A>C | CA392320595 | FBN1 | c.3997T>G (p.Cys1333Gly) n.2671T>G c.669T>G (p.Thr223=) | |
| 15 | g.48474618A>G | CA392320594 | FBN1 | c.3997T>C (p.Cys1333Arg) n.2671T>C c.669T>C (p.Thr223=) | |
| 15 | g.48474618A>T | CA392320593 | FBN1 | c.3997T>A (p.Cys1333Ser) n.2671T>A c.669T>A (p.Thr223=) | |
| 15 | g.48474619G>A | CA490015299 | FBN1 | c.3996C>T (p.Asn1332=) n.2670C>T c.668C>T (p.Thr223Ile) | |
| 15 | g.48474619G>C | CA392320596 | FBN1 | c.3996C>G (p.Asn1332Lys) n.2670C>G c.668C>G (p.Thr223Ser) | ClinVar dbSNP |
| 15 | g.48474619G= | CA2175496362 | FBN1 | c.3996C= (p.Asn1332=) n.2670C= c.668C= (p.Thr223=) | |
| 15 | g.48474619G>T | CA392320597 | FBN1 | c.3996C>A (p.Asn1332Lys) n.2670C>A c.668C>A (p.Thr223Asn) | |
| 15 | g.48474620T>A | CA392320598 | FBN1 | c.3995A>T (p.Asn1332Ile) n.2669A>T c.667A>T (p.Thr223Ser) | |
| 15 | g.48474620T>C | CA392320599 | FBN1 | c.3995A>G (p.Asn1332Ser) n.2669A>G c.667A>G (p.Thr223Ala) | |
| 15 | g.48474620T>G | CA392320600 | FBN1 | c.3995A>C (p.Asn1332Thr) n.2669A>C c.667A>C (p.Thr223Pro) | |
| 15 | g.48474621del | CA2695220642 | FBN1 | c.3995del (p.Asn1332ThrfsTer?) n.2669del c.667del (p.Thr223LeufsTer17) | |
| 15 | g.48474621T>A | CA392320601 | FBN1 | c.3994A>T (p.Asn1332Tyr) n.2668A>T c.666A>T (p.Thr222=) | |
| 15 | g.48474621T>C | CA392320602 | FBN1 | c.3994A>G (p.Asn1332Asp) n.2668A>G c.666A>G (p.Thr222=) | |
| 15 | g.48474621T>G | CA392320603 | FBN1 | c.3994A>C (p.Asn1332His) n.2668A>C c.666A>C (p.Thr222=) | |
| 15 | g.48474621_48474622delinsTG | CA2175496371 | FBN1 | c.3993_3994delinsCA (p.His1331=) n.2667_2668delinsCA c.665_666delinsCA (p.Thr222=) | |
| 15 | g.48474625_48474626dup | CA2695220643 | FBN1 | c.3993_3994dup (p.Asn1332ThrfsTer?) n.2667_2668dup c.665_666dup (p.Thr223GlnfsTer18) | |
| 15 | g.48474622del | CA658824325 | FBN1 | c.3993del (p.His1331GlnfsTer?) n.2667del c.665del (p.Thr222LysfsTer18) | ClinVar dbSNP |
| 15 | g.48474622G>A | CA490015301 | FBN1 | c.3993C>T (p.His1331=) n.2667C>T c.665C>T (p.Thr222Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474622G>C | CA392320605 | FBN1 | c.3993C>G (p.His1331Gln) n.2667C>G c.665C>G (p.Thr222Arg) | |
| 15 | g.48474622G= | CA2175496378 | FBN1 | c.3993C= (p.His1331=) n.2667C= c.665C= (p.Thr222=) | |
| 15 | g.48474622G>T | CA392320604 | FBN1 | c.3993C>A (p.His1331Gln) n.2667C>A c.665C>A (p.Thr222Lys) | |
| 15 | g.48474623T>A | CA392320606 | FBN1 | c.3992A>T (p.His1331Leu) n.2666A>T c.664A>T (p.Thr222Ser) | |
| 15 | g.48474623T>C | CA392320607 | FBN1 | c.3992A>G (p.His1331Arg) n.2666A>G c.664A>G (p.Thr222Ala) | |
| 15 | g.48474623T>G | CA392320608 | FBN1 | c.3992A>C (p.His1331Pro) n.2666A>C c.664A>C (p.Thr222Pro) | |
| 15 | g.48474624G>A | CA392320609 | FBN1 | c.3991C>T (p.His1331Tyr) n.2665C>T c.663C>T (p.His221=) | |
| 15 | g.48474624G>C | CA392320610 | FBN1 | c.3991C>G (p.His1331Asp) n.2665C>G c.663C>G (p.His221Gln) | |
| 15 | g.48474624G>T | CA392320611 | FBN1 | c.3991C>A (p.His1331Asn) n.2665C>A c.663C>A (p.His221Gln) | |
| 15 | g.48474625T>A | CA490015303 | FBN1 | c.3990A>T (p.Ala1330=) n.2664A>T c.662A>T (p.His221Leu) | |
| 15 | g.48474625T>C | CA490015304 | FBN1 | c.3990A>G (p.Ala1330=) n.2664A>G c.662A>G (p.His221Arg) | ClinVar dbSNP |
| 15 | g.48474625T>G | CA490015305 | FBN1 | c.3990A>C (p.Ala1330=) n.2664A>C c.662A>C (p.His221Pro) | |
| 15 | g.48474625T= | CA2175496386 | FBN1 | c.3990A= (p.Ala1330=) n.2664A= c.662A= (p.His221=) | |
| 15 | g.48474626G>A | CA392320614 | FBN1 | c.3989C>T (p.Ala1330Val) n.2663C>T c.661C>T (p.His221Tyr) | ClinVar |
| 15 | g.48474626G>C | CA392320612 | FBN1 | c.3989C>G (p.Ala1330Gly) n.2663C>G c.661C>G (p.His221Asp) | |
| 15 | g.48474626G>T | CA392320613 | FBN1 | c.3989C>A (p.Ala1330Glu) n.2663C>A c.661C>A (p.His221Asn) | |
| 15 | g.48474626dup | CA2695220644 | FBN1 | c.3989dup (p.His1331ThrfsTer19) n.2663dup c.661dup (p.His221ProfsTer?) | |
| 15 | g.48474627C>A | CA392320615 | FBN1 | c.3988G>T (p.Ala1330Ser) n.2662G>T c.660G>T (p.Glu220Asp) | |
| 15 | g.48474627C= | CA2175496405 | FBN1 | c.3988G= (p.Ala1330=) n.2662G= c.660G= (p.Glu220=) | |
| 15 | g.48474627C>G | CA392320616 | FBN1 | c.3988G>C (p.Ala1330Pro) n.2662G>C c.660G>C (p.Glu220Asp) | ClinVar |
| 15 | g.48474627C>T | CA392320617 | FBN1 | c.3988G>A (p.Ala1330Thr) n.2662G>A c.660G>A (p.Glu220=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474628T>A | CA490015307 | FBN1 | c.3987A>T (p.Gly1329=) n.2661A>T c.659A>T (p.Glu220Val) | |
| 15 | g.48474628T>C | CA490015308 | FBN1 | c.3987A>G (p.Gly1329=) n.2661A>G c.659A>G (p.Glu220Gly) | |
| 15 | g.48474628T>G | CA490015309 | FBN1 | c.3987A>C (p.Gly1329=) n.2661A>C c.659A>C (p.Glu220Ala) | |
| 15 | g.48474629C>A | CA392320618 | FBN1 | c.3986G>T (p.Gly1329Val) n.2660G>T c.658G>T (p.Glu220Ter) | |
| 15 | g.48474629C= | CA2175496410 | FBN1 | c.3986G= (p.Gly1329=) n.2660G= c.658G= (p.Glu220=) | |
| 15 | g.48474629C>G | CA392320619 | FBN1 | c.3986G>C (p.Gly1329Ala) n.2660G>C c.658G>C (p.Glu220Gln) | |
| 15 | g.48474629C>T | CA269520566 | FBN1 | c.3986G>A (p.Gly1329Glu) n.2660G>A c.658G>A (p.Glu220Lys) | dbSNP gnomAD v4 |
| 15 | g.48474630C>A | CA392320620 | FBN1 | c.3985G>T (p.Gly1329Ter) n.2659G>T c.657G>T (p.Leu219Phe) | |
| 15 | g.48474630C>G | CA392320621 | FBN1 | c.3985G>C (p.Gly1329Arg) n.2659G>C c.657G>C (p.Leu219Phe) | |
| 15 | g.48474630C>T | CA392320622 | FBN1 | c.3985G>A (p.Gly1329Arg) n.2659G>A c.657G>A (p.Leu219=) | gnomAD v4 |
| 15 | g.48474631A>C | CA392320623 | FBN1 | c.3984T>G (p.Ile1328Met) n.2658T>G c.656T>G (p.Leu219Trp) | |
| 15 | g.48474631A>G | CA490015311 | FBN1 | c.3984T>C (p.Ile1328=) n.2658T>C c.656T>C (p.Leu219Ser) | ClinVar |
| 15 | g.48474631A>T | CA490015312 | FBN1 | c.3984T>A (p.Ile1328=) n.2658T>A c.656T>A (p.Leu219Ter) | |
| 15 | g.48474632A>C | CA392320624 | FBN1 | c.3983T>G (p.Ile1328Ser) n.2657T>G c.655T>G (p.Leu219Val) | |
| 15 | g.48474632A>G | CA392320625 | FBN1 | c.3983T>C (p.Ile1328Thr) n.2657T>C c.655T>C (p.Leu219=) | |
| 15 | g.48474632A>T | CA392320626 | FBN1 | c.3983T>A (p.Ile1328Asn) n.2657T>A c.655T>A (p.Leu219Met) | |
| 15 | g.48474633T>A | CA392320629 | FBN1 | c.3982A>T (p.Ile1328Phe) n.2656A>T c.654A>T (p.Lys218Asn) | gnomAD v4 |
| 15 | g.48474633T>C | CA392320627 | FBN1 | c.3982A>G (p.Ile1328Val) n.2656A>G c.654A>G (p.Lys218=) | |
| 15 | g.48474633T>G | CA392320628 | FBN1 | c.3982A>C (p.Ile1328Leu) n.2656A>C c.654A>C (p.Lys218Asn) | |
| 15 | g.48474634T>A | CA392320630 | FBN1 | c.3981A>T (p.Glu1327Asp) n.2655A>T c.653A>T (p.Lys218Ile) | |
| 15 | g.48474634T>C | CA490015314 | FBN1 | c.3981A>G (p.Glu1327=) n.2655A>G c.653A>G (p.Lys218Arg) | gnomAD v4 |
| 15 | g.48474634T>G | CA392320631 | FBN1 | c.3981A>C (p.Glu1327Asp) n.2655A>C c.653A>C (p.Lys218Thr) | ClinVar |
| 15 | g.48474635T>A | CA392320632 | FBN1 | c.3980A>T (p.Glu1327Val) n.2654A>T c.652A>T (p.Lys218Ter) | |
| 15 | g.48474635T>C | CA392320633 | FBN1 | c.3980A>G (p.Glu1327Gly) n.2654A>G c.652A>G (p.Lys218Glu) | |
| 15 | g.48474635T>G | CA392320634 | FBN1 | c.3980A>C (p.Glu1327Ala) n.2654A>C c.652A>C (p.Lys218Gln) | dbSNP |
| 15 | g.48474635T= | CA2175496419 | FBN1 | c.3980A= (p.Glu1327=) n.2654A= c.652A= (p.Lys218=) | |
| 15 | g.48474636C>A | CA392320635 | FBN1 | c.3979G>T (p.Glu1327Ter) n.2653G>T c.651G>T (p.Val217=) | |
| 15 | g.48474636C>G | CA392320636 | FBN1 | c.3979G>C (p.Glu1327Gln) n.2653G>C c.651G>C (p.Val217=) | |
| 15 | g.48474636C>T | CA392320637 | FBN1 | c.3979G>A (p.Glu1327Lys) n.2653G>A c.651G>A (p.Val217=) | COSMIC |
| 15 | g.48474637A>C | CA392320638 | FBN1 | c.3978T>G (p.Cys1326Trp) n.2652T>G c.650T>G (p.Val217Gly) | |
| 15 | g.48474637A>G | CA490015316 | FBN1 | c.3978T>C (p.Cys1326=) n.2652T>C c.650T>C (p.Val217Ala) | |
| 15 | g.48474637A>T | CA392320639 | FBN1 | c.3978T>A (p.Cys1326Ter) n.2652T>A c.650T>A (p.Val217Glu) | |
| 15 | g.48474638del | CA2573150764 | FBN1 | c.3977del (p.Cys1326LeufsTer?) n.2651del c.649del (p.Val217Ter) | ClinVar dbSNP |
| 15 | g.48474638C>A | CA392320640 | FBN1 | c.3977G>T (p.Cys1326Phe) n.2651G>T c.649G>T (p.Val217Leu) | |
| 15 | g.48474638C= | CA2175496429 | FBN1 | c.3977G= (p.Cys1326=) n.2651G= c.649G= (p.Val217=) | |
| 15 | g.48474638C>G | CA392320641 | FBN1 | c.3977G>C (p.Cys1326Ser) n.2651G>C c.649G>C (p.Val217Leu) | |
| 15 | g.48474638C>T | CA392320642 | FBN1 | c.3977G>A (p.Cys1326Tyr) n.2651G>A c.649G>A (p.Val217Met) | ClinVar dbSNP |
| 15 | g.48474639A= | CA2175496432 | FBN1 | c.3976T= (p.Cys1326=) n.2650T= c.648T= (p.Asn216=) | |
| 15 | g.48474639A>C | CA392320645 | FBN1 | c.3976T>G (p.Cys1326Gly) n.2650T>G c.648T>G (p.Asn216Lys) | |
| 15 | g.48474639A>G | CA392320644 | FBN1 | c.3976T>C (p.Cys1326Arg) n.2650T>C c.648T>C (p.Asn216=) | ClinVar dbSNP |
| 15 | g.48474639A>T | CA392320643 | FBN1 | c.3976T>A (p.Cys1326Ser) n.2650T>A c.648T>A (p.Asn216Lys) | |
| 15 | g.48474640T>A | CA392320646 | FBN1 | c.3975A>T (p.Glu1325Asp) n.2649A>T c.647A>T (p.Asn216Ile) | |
| 15 | g.48474640T>C | CA490015318 | FBN1 | c.3975A>G (p.Glu1325=) n.2649A>G c.647A>G (p.Asn216Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474640T>G | CA014679 | FBN1 | c.3975A>C (p.Glu1325Asp) n.2649A>C c.647A>C (p.Asn216Thr) | ClinVar dbSNP |
| 15 | g.48474640T= | CA2175496438 | FBN1 | c.3975A= (p.Glu1325=) n.2649A= c.647A= (p.Asn216=) | |
| 15 | g.48474641del | CA2580089718 | FBN1 | c.3975del (p.Glu1325AspfsTer?) n.2649del c.647del (p.Asn216MetfsTer2) | ClinVar |
| 15 | g.48474641T>A | CA392320647 | FBN1 | c.3974A>T (p.Glu1325Val) n.2648A>T c.646A>T (p.Asn216Tyr) | |
| 15 | g.48474641T>C | CA392320648 | FBN1 | c.3974A>G (p.Glu1325Gly) n.2648A>G c.646A>G (p.Asn216Asp) | |
| 15 | g.48474641T>G | CA014669 | FBN1 | c.3974A>C (p.Glu1325Ala) n.2648A>C c.646A>C (p.Asn216His) | ClinVar dbSNP |
| 15 | g.48474641T= | CA2175496445 | FBN1 | c.3974A= (p.Glu1325=) n.2648A= c.646A= (p.Asn216=) | |
| 15 | g.48474642C>A | CA392320649 | FBN1 | c.3973G>T (p.Glu1325Ter) n.2647G>T c.645G>T (p.Met215Ile) | ClinVar dbSNP |
| 15 | g.48474642C>G | CA392320650 | FBN1 | c.3973G>C (p.Glu1325Gln) n.2647G>C c.645G>C (p.Met215Ile) | |
| 15 | g.48474642C>T | CA392320651 | FBN1 | c.3973G>A (p.Glu1325Lys) n.2647G>A c.645G>A (p.Met215Ile) | |
| 15 | g.48474642dup | CA16614813 | FBN1 | c.3973dup (p.Glu1325GlyfsTer3) n.2647dup c.645dup (p.Asn216GlufsTer?) | ClinVar dbSNP |
| 15 | g.48474643A= | CA2175496461 | FBN1 | c.3972T= (p.Asn1324=) n.2646T= c.644T= (p.Met215=) | |
| 15 | g.48474643A>C | CA392320652 | FBN1 | c.3972T>G (p.Asn1324Lys) n.2646T>G c.644T>G (p.Met215Arg) | |
| 15 | g.48474643A>G | CA490015321 | FBN1 | c.3972T>C (p.Asn1324=) n.2646T>C c.644T>C (p.Met215Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474643A>T | CA392320653 | FBN1 | c.3972T>A (p.Asn1324Lys) n.2646T>A c.644T>A (p.Met215Lys) | |
| 15 | g.48474644T>A | CA392320654 | FBN1 | c.3971A>T (p.Asn1324Ile) n.2645A>T c.643A>T (p.Met215Leu) | COSMIC |
| 15 | g.48474644T>C | CA051862 | FBN1 | c.3971A>G (p.Asn1324Ser) n.2645A>G c.643A>G (p.Met215Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474644T>G | CA392320655 | FBN1 | c.3971A>C (p.Asn1324Thr) n.2645A>C c.643A>C (p.Met215Leu) | ClinVar |
| 15 | g.48474644T= | CA2175496464 | FBN1 | c.3971A= (p.Asn1324=) n.2645A= c.643A= (p.Met215=) | |
| 15 | g.48474645T>A | CA392320657 | FBN1 | c.3970A>T (p.Asn1324Tyr) n.2644A>T c.642A>T (p.Ser214=) | |
| 15 | g.48474645T>C | CA051856 | FBN1 | c.3970A>G (p.Asn1324Asp) n.2644A>G c.642A>G (p.Ser214=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474645T>G | CA392320656 | FBN1 | c.3970A>C (p.Asn1324His) n.2644A>C c.642A>C (p.Ser214=) | |
| 15 | g.48474645T= | CA2175496471 | FBN1 | c.3970A= (p.Asn1324=) n.2644A= c.642A= (p.Ser214=) | |
| 15 | g.48474646del | CA2695220645 | FBN1 | c.3969del (p.Asn1324MetfsTer?) n.2643del c.641del (p.Ser214Ter) | |
| 15 | g.48474646G>A | CA051847 | FBN1 | c.3969C>T (p.Ile1323=) n.2643C>T c.641C>T (p.Ser214Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474646G>C | CA392320658 | FBN1 | c.3969C>G (p.Ile1323Met) n.2643C>G c.641C>G (p.Ser214Ter) | gnomAD v4 |
| 15 | g.48474646G= | CA2175496479 | FBN1 | c.3969C= (p.Ile1323=) n.2643C= c.641C= (p.Ser214=) | |
| 15 | g.48474646G>T | CA490015323 | FBN1 | c.3969C>A (p.Ile1323=) n.2643C>A c.641C>A (p.Ser214Ter) | ClinVar dbSNP |
| 15 | g.48474647A>C | CA392320659 | FBN1 | c.3968T>G (p.Ile1323Ser) n.2642T>G c.640T>G (p.Ser214Ala) | |
| 15 | g.48474647A>G | CA392320660 | FBN1 | c.3968T>C (p.Ile1323Thr) n.2642T>C c.640T>C (p.Ser214Pro) | |
| 15 | g.48474647A>T | CA392320661 | FBN1 | c.3968T>A (p.Ile1323Asn) n.2642T>A c.640T>A (p.Ser214Thr) | |
| 15 | g.48474648T>A | CA392320662 | FBN1 | c.3967A>T (p.Ile1323Phe) n.2641A>T c.639A>T (p.Thr213=) | dbSNP |
| 15 | g.48474648T>C | CA392320663 | FBN1 | c.3967A>G (p.Ile1323Val) n.2641A>G c.639A>G (p.Thr213=) | gnomAD v4 |
| 15 | g.48474648T>G | CA392320664 | FBN1 | c.3967A>C (p.Ile1323Leu) n.2641A>C c.639A>C (p.Thr213=) | |
| 15 | g.48474648T= | CA2175496494 | FBN1 | c.3967A= (p.Ile1323=) n.2641A= c.639A= (p.Thr213=) | |
| 15 | g.48474649G>A | CA490015327 | FBN1 | c.3966C>T (p.Asp1322=) n.2640C>T c.638C>T (p.Thr213Ile) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474649G>C | CA392320665 | FBN1 | c.3966C>G (p.Asp1322Glu) n.2640C>G c.638C>G (p.Thr213Arg) | ClinVar |
| 15 | g.48474649G>T | CA392320666 | FBN1 | c.3966C>A (p.Asp1322Glu) n.2640C>A c.638C>A (p.Thr213Lys) | |
| 15 | g.48474650T>A | CA392320667 | FBN1 | c.3965A>T (p.Asp1322Val) n.2639A>T c.637A>T (p.Thr213Ser) | |
| 15 | g.48474650T>C | CA392320668 | FBN1 | c.3965A>G (p.Asp1322Gly) n.2639A>G c.637A>G (p.Thr213Ala) | ClinVar dbSNP |
| 15 | g.48474650T>G | CA392320669 | FBN1 | c.3965A>C (p.Asp1322Ala) n.2639A>C c.637A>C (p.Thr213Pro) | |
| 15 | g.48474650T= | CA2175496502 | FBN1 | c.3965A= (p.Asp1322=) n.2639A= c.637A= (p.Thr213=) | |
| 15 | g.48474651C>A | CA392320672 | FBN1 | c.3965-1G>T (n.3965-1G>T) n.2639-1G>T c.637-1G>T (n.637-1G>T) | |
| 15 | g.48474651C>G | CA392320671 | FBN1 | c.3965-1G>C (n.3965-1G>C) n.2639-1G>C c.637-1G>C (n.637-1G>C) | |
| 15 | g.48474651C>T | CA392320670 | FBN1 | c.3965-1G>A (n.3965-1G>A) n.2639-1G>A c.637-1G>A (n.637-1G>A) | |
| 15 | g.48474652T>A | CA014647 | FBN1 | c.3965-2A>T (n.3965-2A>T) n.2639-2A>T c.637-2A>T (n.637-2A>T) | ClinVar dbSNP |
| 15 | g.48474652T>C | CA392320673 | FBN1 | c.3965-2A>G (n.3965-2A>G) n.2639-2A>G c.637-2A>G (n.637-2A>G) | |
| 15 | g.48474652T>G | CA392320674 | FBN1 | c.3965-2A>C (n.3965-2A>C) n.2639-2A>C c.637-2A>C (n.637-2A>C) | |
| 15 | g.48474652T= | CA2175496510 | FBN1 | c.3965-2A= (n.3965-2A=) n.2639-2A= c.637-2A= (n.637-2A=) | |
| 15 | g.48474653G>C | CA2580089720 | FBN1 | c.3965-3C>G (n.3965-3C>G) n.2639-3C>G c.637-3C>G (n.637-3C>G) | ClinVar |
| 15 | g.48474655A= | CA2175496516 | FBN1 | c.3965-5T= (n.3965-5T=) n.2639-5T= c.637-5T= (n.637-5T=) | |
| 15 | g.48474655A>G | CA2175496522 | FBN1 | c.3965-5T>C (n.3965-5T>C) n.2639-5T>C c.637-5T>C (n.637-5T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474655A>T | CA2825002286 | FBN1 | c.3965-5T>A (n.3965-5T>A) n.2639-5T>A c.637-5T>A (n.637-5T>A) | ClinVar |
| 15 | g.48474658A= | CA2175496526 | FBN1 | c.3965-8T= (n.3965-8T=) n.2639-8T= c.637-8T= (n.637-8T=) | |
| 15 | g.48474658A>G | CA014660 | FBN1 | c.3965-8T>C (n.3965-8T>C) n.2639-8T>C c.637-8T>C (n.637-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474660T>C | CA2628334528 | FBN1 | c.3965-10A>G (n.3965-10A>G) n.2639-10A>G c.637-10A>G (n.637-10A>G) | ClinVar gnomAD v4 |
| 15 | g.48474661G>A | CA2575717308 | FBN1 | c.3965-11C>T (n.3965-11C>T) n.2639-11C>T c.637-11C>T (n.637-11C>T) | gnomAD v4 |
| 15 | g.48474661G>C | CA2575717309 | FBN1 | c.3965-11C>G (n.3965-11C>G) n.2639-11C>G c.637-11C>G (n.637-11C>G) | |
| 15 | g.48474661G= | CA2175496530 | FBN1 | c.3965-11C= (n.3965-11C=) n.2639-11C= c.637-11C= (n.637-11C=) | |
| 15 | g.48474661G>T | CA051782 | FBN1 | c.3965-11C>A (n.3965-11C>A) n.2639-11C>A c.637-11C>A (n.637-11C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474663G>C | CA2175496535 | FBN1 | c.3965-13C>G (n.3965-13C>G) n.2639-13C>G c.637-13C>G (n.637-13C>G) | dbSNP |
| 15 | g.48474663G= | CA2175496538 | FBN1 | c.3965-13C= (n.3965-13C=) n.2639-13C= c.637-13C= (n.637-13C=) | |
| 15 | g.48474663G>T | CA051788 | FBN1 | c.3965-13C>A (n.3965-13C>A) n.2639-13C>A c.637-13C>A (n.637-13C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48474664C= | CA2175496547 | FBN1 | c.3965-14G= (n.3965-14G=) n.2639-14G= c.637-14G= (n.637-14G=) | |
| 15 | g.48474664C>G | CA2575717311 | FBN1 | c.3965-14G>C (n.3965-14G>C) n.2639-14G>C c.637-14G>C (n.637-14G>C) | |
| 15 | g.48474665dup | CA1139663891 | FBN1 | c.3965-15dup (n.3965-15dup) n.2639-15dup c.637-15dup (n.637-15dup) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474666G= | CA2175496556 | FBN1 | c.3965-16C= (n.3965-16C=) n.2639-16C= c.637-16C= (n.637-16C=) | |
| 15 | g.48474666G>T | CA2175496558 | FBN1 | c.3965-16C>A (n.3965-16C>A) n.2639-16C>A c.637-16C>A (n.637-16C>A) | dbSNP |
| 15 | g.48474667T>C | CA2628334529 | FBN1 | c.3965-17A>G (n.3965-17A>G) n.2639-17A>G c.637-17A>G (n.637-17A>G) | gnomAD v4 |
| 15 | g.48474674G>T | CA2628334530 | FBN1 | c.3965-24C>A (n.3965-24C>A) n.2639-24C>A c.637-24C>A (n.637-24C>A) | gnomAD v4 |
| 15 | g.48474675A= | CA2175496560 | FBN1 | c.3965-25T= (n.3965-25T=) n.2639-25T= c.637-25T= (n.637-25T=) | |
| 15 | g.48474675A>G | CA617833924 | FBN1 | c.3965-25T>C (n.3965-25T>C) n.2639-25T>C c.637-25T>C (n.637-25T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474679del | CA2628334531 | FBN1 | c.3965-25del (n.3965-25del) n.2639-25del c.637-25del (n.637-25del) | gnomAD v4 |
| 15 | g.48474676A= | CA2175496565 | FBN1 | c.3965-26T= (n.3965-26T=) n.2639-26T= c.637-26T= (n.637-26T=) | |
| 15 | g.48474676A>C | CA051800 | FBN1 | c.3965-26T>G (n.3965-26T>G) n.2639-26T>G c.637-26T>G (n.637-26T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474676A>G | CA2175496569 | FBN1 | c.3965-26T>C (n.3965-26T>C) n.2639-26T>C c.637-26T>C (n.637-26T>C) | dbSNP |
| 15 | g.48474680G>A | CA051815 | FBN1 | c.3965-30C>T (n.3965-30C>T) n.2639-30C>T c.637-30C>T (n.637-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474680G>C | CA051807 | FBN1 | c.3965-30C>G (n.3965-30C>G) n.2639-30C>G c.637-30C>G (n.637-30C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474680G= | CA2175496573 | FBN1 | c.3965-30C= (n.3965-30C=) n.2639-30C= c.637-30C= (n.637-30C=) | |
| 15 | g.48474681G>A | CA2628334532 | FBN1 | c.3965-31C>T (n.3965-31C>T) n.2639-31C>T c.637-31C>T (n.637-31C>T) | gnomAD v4 |
| 15 | g.48474681G>C | CA617833928 | FBN1 | c.3965-31C>G (n.3965-31C>G) n.2639-31C>G c.637-31C>G (n.637-31C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474681G= | CA2175496577 | FBN1 | c.3965-31C= (n.3965-31C=) n.2639-31C= c.637-31C= (n.637-31C=) | |
| 15 | g.48474683T>C | CA2175496585 | FBN1 | c.3965-33A>G (n.3965-33A>G) n.2639-33A>G c.637-33A>G (n.637-33A>G) | dbSNP |
| 15 | g.48474683T= | CA2175496584 | FBN1 | c.3965-33A= (n.3965-33A=) n.2639-33A= c.637-33A= (n.637-33A=) | |
| 15 | g.48474684C= | CA2175496589 | FBN1 | c.3965-34G= (n.3965-34G=) n.2639-34G= c.637-34G= (n.637-34G=) | |
| 15 | g.48474684C>T | CA617833929 | FBN1 | c.3965-34G>A (n.3965-34G>A) n.2639-34G>A c.637-34G>A (n.637-34G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474685A= | CA2175496591 | FBN1 | c.3965-35T= (n.3965-35T=) n.2639-35T= c.637-35T= (n.637-35T=) | |
| 15 | g.48474685A>G | CA269520578 | FBN1 | c.3965-35T>C (n.3965-35T>C) n.2639-35T>C c.637-35T>C (n.637-35T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474686G>A | CA617833930 | FBN1 | c.3965-36C>T (n.3965-36C>T) n.2639-36C>T c.637-36C>T (n.637-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474686G>C | CA269520581 | FBN1 | c.3965-36C>G (n.3965-36C>G) n.2639-36C>G c.637-36C>G (n.637-36C>G) | dbSNP COSMIC |
| 15 | g.48474686G= | CA2175496599 | FBN1 | c.3965-36C= (n.3965-36C=) n.2639-36C= c.637-36C= (n.637-36C=) | |
| 15 | g.48474686G>T | CA051821 | FBN1 | c.3965-36C>A (n.3965-36C>A) n.2639-36C>A c.637-36C>A (n.637-36C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474689C>T | CA2628334533 | FBN1 | c.3965-39G>A (n.3965-39G>A) n.2639-39G>A c.637-39G>A (n.637-39G>A) | gnomAD v4 |