| 15 | g.48610772G>A | CA049603 | FBN1 | c.302C>T (p.Thr101Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610772G>C | CA392446970 | FBN1 | c.302C>G (p.Thr101Ser)
| |
| 15 | g.48610772G= | CA2175573527 | FBN1 | c.302C= (p.Thr101=)
| |
| 15 | g.48610772G>T | CA392446971 | FBN1 | c.302C>A (p.Thr101Asn)
| |
| 15 | g.48610773T>A | CA392446973 | FBN1 | c.301A>T (p.Thr101Ser)
| ClinVar |
| 15 | g.48610773T>C | CA392446977 | FBN1 | c.301A>G (p.Thr101Ala)
| |
| 15 | g.48610773T>G | CA392446975 | FBN1 | c.301A>C (p.Thr101Pro)
| |
| 15 | g.48610774G>A | CA013631 | FBN1 | c.300C>T (p.Cys100=)
| ClinVar dbSNP |
| 15 | g.48610774G>C | CA392446979 | FBN1 | c.300C>G (p.Cys100Trp)
| |
| 15 | g.48610774G= | CA2175573528 | FBN1 | c.300C= (p.Cys100=)
| |
| 15 | g.48610774G>T | CA392446981 | FBN1 | c.300C>A (p.Cys100Ter)
| ClinVar dbSNP |
| 15 | g.48610775C>A | CA013619 | FBN1 | c.299G>T (p.Cys100Phe)
| ClinVar dbSNP |
| 15 | g.48610775C= | CA2175573529 | FBN1 | c.299G= (p.Cys100=)
| |
| 15 | g.48610775C>G | CA392446983 | FBN1 | c.299G>C (p.Cys100Ser)
| |
| 15 | g.48610775C>T | CA10576993 | FBN1 | c.299G>A (p.Cys100Tyr)
| ClinVar dbSNP |
| 15 | g.48610776A= | CA2175573530 | FBN1 | c.298T= (p.Cys100=)
| |
| 15 | g.48610776A>C | CA392446986 | FBN1 | c.298T>G (p.Cys100Gly)
| |
| 15 | g.48610776A>G | CA392446988 | FBN1 | c.298T>C (p.Cys100Arg)
| ClinVar dbSNP |
| 15 | g.48610776A>T | CA392446990 | FBN1 | c.298T>A (p.Cys100Ser)
| |
| 15 | g.48610777C>A | CA392446992 | FBN1 | c.297G>T (p.Met99Ile)
| |
| 15 | g.48610777C= | CA2175573531 | FBN1 | c.297G= (p.Met99=)
| |
| 15 | g.48610777C>G | CA392446994 | FBN1 | c.297G>C (p.Met99Ile)
| |
| 15 | g.48610777C>T | CA392446996 | FBN1 | c.297G>A (p.Met99Ile)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48610778A>C | CA392446998 | FBN1 | c.296T>G (p.Met99Arg)
| |
| 15 | g.48610778A>G | CA392447002 | FBN1 | c.296T>C (p.Met99Thr)
| |
| 15 | g.48610778A>T | CA392447000 | FBN1 | c.296T>A (p.Met99Lys)
| |
| 15 | g.48610779T>A | CA392447004 | FBN1 | c.295A>T (p.Met99Leu)
| |
| 15 | g.48610779T>C | CA392447006 | FBN1 | c.295A>G (p.Met99Val)
| ClinVar gnomAD v4 |
| 15 | g.48610779T>G | CA392447008 | FBN1 | c.295A>C (p.Met99Leu)
| |
| 15 | g.48610779dup | CA2695220687 | FBN1 | c.295dup (p.Met99AsnfsTer30)
| |
| 15 | g.48610780A>C | CA392447009 | FBN1 | c.294T>G (p.Asn98Lys)
| |
| 15 | g.48610780A>G | CA490090216 | FBN1 | c.294T>C (p.Asn98=)
| |
| 15 | g.48610780A>T | CA392447010 | FBN1 | c.294T>A (p.Asn98Lys)
| |
| 15 | g.48610780_48610781delinsAT | CA2175573532 | FBN1 | c.293_294delinsAT (p.Asn98=)
| |
| 15 | g.48610781T>A | CA392447013 | FBN1 | c.293A>T (p.Asn98Ile)
| |
| 15 | g.48610781T>C | CA392447012 | FBN1 | c.293A>G (p.Asn98Ser)
| ClinVar gnomAD v4 |
| 15 | g.48610781T>G | CA392447011 | FBN1 | c.293A>C (p.Asn98Thr)
| |
| 15 | g.48610783del | CA1139663966 | FBN1 | c.293del (p.Asn98IlefsTer10)
| ClinVar dbSNP |
| 15 | g.48610782T>A | CA392447014 | FBN1 | c.292A>T (p.Asn98Tyr)
| |
| 15 | g.48610782T>C | CA392447015 | FBN1 | c.292A>G (p.Asn98Asp)
| |
| 15 | g.48610782T>G | CA392447016 | FBN1 | c.292A>C (p.Asn98His)
| |
| 15 | g.48610783T>A | CA490090220 | FBN1 | c.291A>T (p.Pro97=)
| |
| 15 | g.48610783T>C | CA490090221 | FBN1 | c.291A>G (p.Pro97=)
| gnomAD v4 |
| 15 | g.48610783T>G | CA490090222 | FBN1 | c.291A>C (p.Pro97=)
| |
| 15 | g.48610784G>A | CA392447017 | FBN1 | c.290C>T (p.Pro97Leu)
| |
| 15 | g.48610784G>C | CA392447018 | FBN1 | c.290C>G (p.Pro97Arg)
| |
| 15 | g.48610784G>T | CA392447019 | FBN1 | c.290C>A (p.Pro97Gln)
| |
| 15 | g.48610785G>A | CA392447020 | FBN1 | c.289C>T (p.Pro97Ser)
| |
| 15 | g.48610785G>C | CA392447022 | FBN1 | c.289C>G (p.Pro97Ala)
| |
| 15 | g.48610785G>T | CA392447021 | FBN1 | c.289C>A (p.Pro97Thr)
| |
| 15 | g.48610786C>A | CA392447023 | FBN1 | c.288G>T (p.Arg96Ser)
| |
| 15 | g.48610786C>G | CA392447024 | FBN1 | c.288G>C (p.Arg96Ser)
| |
| 15 | g.48610786C>T | CA490090223 | FBN1 | c.288G>A (p.Arg96=)
| gnomAD v4 |
| 15 | g.48610787C>A | CA392447025 | FBN1 | c.287G>T (p.Arg96Met)
| |
| 15 | g.48610787C= | CA2175573533 | FBN1 | c.287G= (p.Arg96=)
| |
| 15 | g.48610787C>G | CA013493 | FBN1 | c.287G>C (p.Arg96Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610787C>T | CA392447026 | FBN1 | c.287G>A (p.Arg96Lys)
| |
| 15 | g.48610788T>A | CA392447027 | FBN1 | c.286A>T (p.Arg96Trp)
| |
| 15 | g.48610788T>C | CA392447028 | FBN1 | c.286A>G (p.Arg96Gly)
| |
| 15 | g.48610788T>G | CA490090227 | FBN1 | c.286A>C (p.Arg96=)
| |
| 15 | g.48610789C>A | CA490090229 | FBN1 | c.285G>T (p.Ser95=)
| |
| 15 | g.48610789C= | CA2175573534 | FBN1 | c.285G= (p.Ser95=)
| |
| 15 | g.48610789C>G | CA490090228 | FBN1 | c.285G>C (p.Ser95=)
| gnomAD v4 |
| 15 | g.48610789C>T | CA049128 | FBN1 | c.285G>A (p.Ser95=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610790G>A | CA270059090 | FBN1 | c.284C>T (p.Ser95Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610790G>C | CA392447030 | FBN1 | c.284C>G (p.Ser95Trp)
| ClinVar dbSNP |
| 15 | g.48610790G= | CA2175573535 | FBN1 | c.284C= (p.Ser95=)
| |
| 15 | g.48610790G>T | CA392447031 | FBN1 | c.284C>A (p.Ser95Ter)
| ClinVar dbSNP |
| 15 | g.48610791A>C | CA392447034 | FBN1 | c.283T>G (p.Ser95Ala)
| |
| 15 | g.48610791A>G | CA392447033 | FBN1 | c.283T>C (p.Ser95Pro)
| |
| 15 | g.48610791A>T | CA392447032 | FBN1 | c.283T>A (p.Ser95Thr)
| |
| 15 | g.48610792A>C | CA392447035 | FBN1 | c.282T>G (p.Cys94Trp)
| |
| 15 | g.48610792A>G | CA490090231 | FBN1 | c.282T>C (p.Cys94=)
| ClinVar |
| 15 | g.48610792A>T | CA392447036 | FBN1 | c.282T>A (p.Cys94Ter)
| |
| 15 | g.48610793C>A | CA013427 | FBN1 | c.281G>T (p.Cys94Phe)
| ClinVar dbSNP |
| 15 | g.48610793C= | CA2175573536 | FBN1 | c.281G= (p.Cys94=)
| |
| 15 | g.48610793C>G | CA392447038 | FBN1 | c.281G>C (p.Cys94Ser)
| |
| 15 | g.48610793C>T | CA392447037 | FBN1 | c.281G>A (p.Cys94Tyr)
| ClinVar |
| 15 | g.48610794A>C | CA392447039 | FBN1 | c.280T>G (p.Cys94Gly)
| |
| 15 | g.48610794A>G | CA392447040 | FBN1 | c.280T>C (p.Cys94Arg)
| |
| 15 | g.48610794A>T | CA392447041 | FBN1 | c.280T>A (p.Cys94Ser)
| |
| 15 | g.48610795A>C | CA392447042 | FBN1 | c.279T>G (p.Phe93Leu)
| |
| 15 | g.48610795A>G | CA490090234 | FBN1 | c.279T>C (p.Phe93=)
| |
| 15 | g.48610795A>T | CA392447043 | FBN1 | c.279T>A (p.Phe93Leu)
| |
| 15 | g.48610796A= | CA2175573537 | FBN1 | c.278T= (p.Phe93=)
| |
| 15 | g.48610796A>C | CA270059096 | FBN1 | c.278T>G (p.Phe93Cys)
| dbSNP |
| 15 | g.48610796A>G | CA392447044 | FBN1 | c.278T>C (p.Phe93Ser)
| |
| 15 | g.48610796A>T | CA392447045 | FBN1 | c.278T>A (p.Phe93Tyr)
| |
| 15 | g.48610797A>C | CA392447046 | FBN1 | c.277T>G (p.Phe93Val)
| |
| 15 | g.48610797A>G | CA392447047 | FBN1 | c.277T>C (p.Phe93Leu)
| |
| 15 | g.48610797A>T | CA392447048 | FBN1 | c.277T>A (p.Phe93Ile)
| |
| 15 | g.48610798T>A | CA490090235 | FBN1 | c.276A>T (p.Gly92=)
| |
| 15 | g.48610798T>C | CA490090236 | FBN1 | c.276A>G (p.Gly92=)
| |
| 15 | g.48610798T>G | CA490090237 | FBN1 | c.276A>C (p.Gly92=)
| |
| 15 | g.48610799C>A | CA392447051 | FBN1 | c.275G>T (p.Gly92Val)
| |
| 15 | g.48610799C>G | CA392447050 | FBN1 | c.275G>C (p.Gly92Ala)
| |
| 15 | g.48610799C>T | CA392447049 | FBN1 | c.275G>A (p.Gly92Glu)
| COSMIC |
| 15 | g.48610800C>A | CA392447052 | FBN1 | c.274G>T (p.Gly92Ter)
| |
| 15 | g.48610800C>G | CA392447057 | FBN1 | c.274G>C (p.Gly92Arg)
| |
| 15 | g.48610800C>T | CA392447059 | FBN1 | c.274G>A (p.Gly92Arg)
| ClinVar dbSNP |
| 15 | g.48610801A= | CA2175573538 | FBN1 | c.273T= (p.Asp91=)
| |
| 15 | g.48610801A>C | CA392447061 | FBN1 | c.273T>G (p.Asp91Glu)
| |
| 15 | g.48610801A>G | CA048775 | FBN1 | c.273T>C (p.Asp91=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610801A>T | CA392447062 | FBN1 | c.273T>A (p.Asp91Glu)
| |
| 15 | g.48610802T>A | CA392447063 | FBN1 | c.272A>T (p.Asp91Val)
| |
| 15 | g.48610802T>C | CA392447065 | FBN1 | c.272A>G (p.Asp91Gly)
| |
| 15 | g.48610802T>G | CA392447067 | FBN1 | c.272A>C (p.Asp91Ala)
| |
| 15 | g.48610803C>A | CA392447070 | FBN1 | c.271G>T (p.Asp91Tyr)
| |
| 15 | g.48610803C>G | CA392447071 | FBN1 | c.271G>C (p.Asp91His)
| |
| 15 | g.48610803C>T | CA392447072 | FBN1 | c.271G>A (p.Asp91Asn)
| |
| 15 | g.48610804C>A | CA490090240 | FBN1 | c.270G>T (p.Gly90=)
| |
| 15 | g.48610804C>G | CA490090241 | FBN1 | c.270G>C (p.Gly90=)
| |
| 15 | g.48610804C>T | CA490090239 | FBN1 | c.270G>A (p.Gly90=)
| |
| 15 | g.48610804_48610806delinsCCC | CA2175573539 | FBN1 | c.268_270delinsGGG (p.Gly90=)
| |
| 15 | g.48610805C>A | CA392447074 | FBN1 | c.269G>T (p.Gly90Val)
| |
| 15 | g.48610805C>G | CA392447075 | FBN1 | c.269G>C (p.Gly90Ala)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610805C>T | CA392447073 | FBN1 | c.269G>A (p.Gly90Glu)
| |
| 15 | g.48610805_48610806delinsG | CA013333 | FBN1 | c.268_269delinsC (p.Gly90ArgfsTer18)
| ClinVar dbSNP |
| 15 | g.48610806C>A | CA392447078 | FBN1 | c.268G>T (p.Gly90Trp)
| |
| 15 | g.48610806C>G | CA392447089 | FBN1 | c.268G>C (p.Gly90Arg)
| |
| 15 | g.48610806C>T | CA392447093 | FBN1 | c.268G>A (p.Gly90Arg)
| ClinVar |
| 15 | g.48610807A>C | CA392447096 | FBN1 | c.267T>G (p.Cys89Trp)
| |
| 15 | g.48610807A>G | CA490090242 | FBN1 | c.267T>C (p.Cys89=)
| gnomAD v4 |
| 15 | g.48610807A>T | CA392447100 | FBN1 | c.267T>A (p.Cys89Ter)
| |
| 15 | g.48610808C>A | CA270059115 | FBN1 | c.266G>T (p.Cys89Phe)
| ClinVar dbSNP |
| 15 | g.48610808C= | CA2175573540 | FBN1 | c.266G= (p.Cys89=)
| |
| 15 | g.48610808C>G | CA013283 | FBN1 | c.266G>C (p.Cys89Ser)
| ClinVar dbSNP |
| 15 | g.48610808C>T | CA013275 | FBN1 | c.266G>A (p.Cys89Tyr)
| ClinVar dbSNP |
| 15 | g.48610809A= | CA2175573541 | FBN1 | c.265T= (p.Cys89=)
| |
| 15 | g.48610809A>C | CA392447114 | FBN1 | c.265T>G (p.Cys89Gly)
| |
| 15 | g.48610809A>G | CA392447117 | FBN1 | c.265T>C (p.Cys89Arg)
| ClinVar dbSNP |
| 15 | g.48610809A>T | CA392447121 | FBN1 | c.265T>A (p.Cys89Ser)
| |
| 15 | g.48610810G>A | CA490090243 | FBN1 | c.264C>T (p.Ser88=)
| |
| 15 | g.48610810G>C | CA490090244 | FBN1 | c.264C>G (p.Ser88=)
| |
| 15 | g.48610810G>T | CA490090245 | FBN1 | c.264C>A (p.Ser88=)
| |
| 15 | g.48610811G>A | CA392447122 | FBN1 | c.263C>T (p.Ser88Phe)
| dbSNP |
| 15 | g.48610811G>C | CA270059127 | FBN1 | c.263C>G (p.Ser88Cys)
| dbSNP |
| 15 | g.48610811G= | CA2175573542 | FBN1 | c.263C= (p.Ser88=)
| |
| 15 | g.48610811G>T | CA392447123 | FBN1 | c.263C>A (p.Ser88Tyr)
| COSMIC |
| 15 | g.48610812A>C | CA392447124 | FBN1 | c.262T>G (p.Ser88Ala)
| |
| 15 | g.48610812A>G | CA392447128 | FBN1 | c.262T>C (p.Ser88Pro)
| |
| 15 | g.48610812A>T | CA392447125 | FBN1 | c.262T>A (p.Ser88Thr)
| |
| 15 | g.48610813A= | CA2175573543 | FBN1 | c.261T= (p.His87=)
| |
| 15 | g.48610813A>C | CA392447130 | FBN1 | c.261T>G (p.His87Gln)
| gnomAD v4 |
| 15 | g.48610813A>G | CA048233 | FBN1 | c.261T>C (p.His87=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.48610813A>T | CA392447134 | FBN1 | c.261T>A (p.His87Gln)
| |
| 15 | g.48610813_48610816delinsATGC | CA2175573544 | FBN1 | c.258_261delinsGCAT (p.Arg86=)
| |
| 15 | g.48610814T>A | CA392447137 | FBN1 | c.260A>T (p.His87Leu)
| |
| 15 | g.48610814T>C | CA16614458 | FBN1 | c.260A>G (p.His87Arg)
| ClinVar dbSNP |
| 15 | g.48610814T>G | CA392447141 | FBN1 | c.260A>C (p.His87Pro)
| |
| 15 | g.48610814T= | CA2175573545 | FBN1 | c.260A= (p.His87=)
| |
| 15 | g.48610814_48610816delinsAG | CA658798368 | FBN1 | c.258_260delinsCT (p.His87PhefsTer21)
| ClinVar dbSNP |
| 15 | g.48610815G>A | CA392447143 | FBN1 | c.259C>T (p.His87Tyr)
| |
| 15 | g.48610815G>C | CA392447145 | FBN1 | c.259C>G (p.His87Asp)
| COSMIC |
| 15 | g.48610815G= | CA2175573546 | FBN1 | c.259C= (p.His87=)
| |
| 15 | g.48610815G>T | CA048158 | FBN1 | c.259C>A (p.His87Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610816C>A | CA270059139 | FBN1 | c.258G>T (p.Arg86=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610816C= | CA2175573547 | FBN1 | c.258G= (p.Arg86=)
| |
| 15 | g.48610816C>G | CA490090247 | FBN1 | c.258G>C (p.Arg86=)
| |
| 15 | g.48610816C>T | CA490090246 | FBN1 | c.258G>A (p.Arg86=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610817C>A | CA392447148 | FBN1 | c.257G>T (p.Arg86Leu)
| |
| 15 | g.48610817C= | CA2175573548 | FBN1 | c.257G= (p.Arg86=)
| |
| 15 | g.48610817C>G | CA392447153 | FBN1 | c.257G>C (p.Arg86Pro)
| |
| 15 | g.48610817C>T | CA392447159 | FBN1 | c.257G>A (p.Arg86Gln)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610818G>A | CA048069 | FBN1 | c.256C>T (p.Arg86Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.48610818G>C | CA392447165 | FBN1 | c.256C>G (p.Arg86Gly)
| |
| 15 | g.48610818G= | CA2175573549 | FBN1 | c.256C= (p.Arg86=)
| |
| 15 | g.48610818G>T | CA490090248 | FBN1 | c.256C>A (p.Arg86=)
| |
| 15 | g.48610819del | CA2580089569 | FBN1 | c.256del (p.Arg86GlyfsTer22)
| ClinVar |
| 15 | g.48610819G>A | CA490090249 | FBN1 | c.255C>T (p.Cys85=)
| |
| 15 | g.48610819G>C | CA392447167 | FBN1 | c.255C>G (p.Cys85Trp)
| |
| 15 | g.48610819G= | CA2175573550 | FBN1 | c.255C= (p.Cys85=)
| |
| 15 | g.48610819G>T | CA392447170 | FBN1 | c.255C>A (p.Cys85Ter)
| ClinVar dbSNP |
| 15 | g.48610820C>A | CA392447174 | FBN1 | c.254G>T (p.Cys85Phe)
| |
| 15 | g.48610820C>G | CA392447176 | FBN1 | c.254G>C (p.Cys85Ser)
| |
| 15 | g.48610820C>T | CA392447177 | FBN1 | c.254G>A (p.Cys85Tyr)
| ClinVar COSMIC |
| 15 | g.48610821A>C | CA392447181 | FBN1 | c.253T>G (p.Cys85Gly)
| |
| 15 | g.48610821A>G | CA392447182 | FBN1 | c.253T>C (p.Cys85Arg)
| |
| 15 | g.48610821A>T | CA392447183 | FBN1 | c.253T>A (p.Cys85Ser)
| |
| 15 | g.48610822A>C | CA392447184 | FBN1 | c.252T>G (p.Ile84Met)
| |
| 15 | g.48610822A>G | CA490090250 | FBN1 | c.252T>C (p.Ile84=)
| ClinVar gnomAD v4 |
| 15 | g.48610822A>T | CA490090251 | FBN1 | c.252T>A (p.Ile84=)
| |
| 15 | g.48610823A>C | CA392447185 | FBN1 | c.251T>G (p.Ile84Ser)
| |
| 15 | g.48610823A>G | CA392447189 | FBN1 | c.251T>C (p.Ile84Thr)
| |
| 15 | g.48610823A>T | CA392447186 | FBN1 | c.251T>A (p.Ile84Asn)
| |
| 15 | g.48610824T>A | CA392447200 | FBN1 | c.250A>T (p.Ile84Phe)
| |
| 15 | g.48610824T>C | CA270059148 | FBN1 | c.250A>G (p.Ile84Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610824T>G | CA392447205 | FBN1 | c.250A>C (p.Ile84Leu)
| |
| 15 | g.48610824T= | CA2175573551 | FBN1 | c.250A= (p.Ile84=)
| |
| 15 | g.48610825G>A | CA490090252 | FBN1 | c.249C>T (p.Pro83=)
| COSMIC |
| 15 | g.48610825G>C | CA490090253 | FBN1 | c.249C>G (p.Pro83=)
| |
| 15 | g.48610825G= | CA2175573552 | FBN1 | c.249C= (p.Pro83=)
| |
| 15 | g.48610825G>T | CA047856 | FBN1 | c.249C>A (p.Pro83=)
| ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48610826del | CA2695220690 | FBN1 | c.249del (p.Ile84PhefsTer24)
| |
| 15 | g.48610826G>A | CA392447206 | FBN1 | c.248C>T (p.Pro83Leu)
| ClinVar dbSNP |
| 15 | g.48610826G>C | CA392447208 | FBN1 | c.248C>G (p.Pro83Arg)
| |
| 15 | g.48610826G= | CA2175573553 | FBN1 | c.248C= (p.Pro83=)
| |
| 15 | g.48610826G>T | CA392447207 | FBN1 | c.248C>A (p.Pro83His)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610827C>A | CA392447211 | FBN1 | c.248-1G>T (n.248-1G>T)
| |
| 15 | g.48610827C>G | CA392447244 | FBN1 | c.248-1G>C (n.248-1G>C)
| |
| 15 | g.48610827C>T | CA392447247 | FBN1 | c.248-1G>A (n.248-1G>A)
| |
| 15 | g.48610828T>A | CA392447251 | FBN1 | c.248-2A>T (n.248-2A>T)
| |
| 15 | g.48610828T>C | CA392447252 | FBN1 | c.248-2A>G (n.248-2A>G)
| |
| 15 | g.48610828T>G | CA392447254 | FBN1 | c.248-2A>C (n.248-2A>C)
| |
| 15 | g.48610829G>A | CA2175573555 | FBN1 | c.248-3C>T (n.248-3C>T)
| dbSNP gnomAD v4 |
| 15 | g.48610829G>C | CA658825076 | FBN1 | c.248-3C>G (n.248-3C>G)
| ClinVar dbSNP |
| 15 | g.48610829G= | CA2175573554 | FBN1 | c.248-3C= (n.248-3C=)
| |
| 15 | g.48610830T>C | CA915946002 | FBN1 | c.248-4A>G (n.248-4A>G)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610830T= | CA2175573556 | FBN1 | c.248-4A= (n.248-4A=)
| |
| 15 | g.48610831G>C | CA2628338052 | FBN1 | c.248-5C>G (n.248-5C>G)
| gnomAD v4 |
| 15 | g.48610833A>C | CA2573054044 | FBN1 | c.248-7T>G (n.248-7T>G)
| ClinVar dbSNP |
| 15 | g.48610835A>G | CA2628338053 | FBN1 | c.248-9T>C (n.248-9T>C)
| gnomAD v4 |
| 15 | g.48610837dup | CA2575717782 | FBN1 | c.248-9dup (n.248-9dup)
| |
| 15 | g.48610838C= | CA2175573557 | FBN1 | c.248-12G= (n.248-12G=)
| |
| 15 | g.48610838C>T | CA2175573558 | FBN1 | c.248-12G>A (n.248-12G>A)
| dbSNP |
| 15 | g.48610840A>G | CA2628338054 | FBN1 | c.248-14T>C (n.248-14T>C)
| gnomAD v4 |
| 15 | g.48610841_48610846del | CA2628338055 | FBN1 | c.248-20_248-15del (n.248-20_248-15del)
| gnomAD v4 |
| 15 | g.48610843G>A | CA617942664 | FBN1 | c.248-17C>T (n.248-17C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610843G>C | CA270059160 | FBN1 | c.248-17C>G (n.248-17C>G)
| ClinVar dbSNP |
| 15 | g.48610843G= | CA2175573559 | FBN1 | c.248-17C= (n.248-17C=)
| |
| 15 | g.48610843G>T | CA2628338056 | FBN1 | c.248-17C>A (n.248-17C>A)
| gnomAD v4 |
| 15 | g.48610844G>A | CA2628338057 | FBN1 | c.248-18C>T (n.248-18C>T)
| gnomAD v4 |
| 15 | g.48610844G>C | CA047742 | FBN1 | c.248-18C>G (n.248-18C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610844G= | CA2175573560 | FBN1 | c.248-18C= (n.248-18C=)
| |
| 15 | g.48610844G>T | CA713374066 | FBN1 | c.248-18C>A (n.248-18C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610846C>A | CA2730788938 | FBN1 | c.248-20G>T (n.248-20G>T)
| dbSNP |
| 15 | g.48610848G>T | CA2628338058 | FBN1 | c.248-22C>A (n.248-22C>A)
| gnomAD v4 |
| 15 | g.48610849T>C | CA2628338060 | FBN1 | c.248-23A>G (n.248-23A>G)
| gnomAD v4 |
| 15 | g.48610850del | CA2628338059 | FBN1 | c.248-23del (n.248-23del)
| gnomAD v4 |
| 15 | g.48610851A= | CA2175573561 | FBN1 | c.248-25T= (n.248-25T=)
| |
| 15 | g.48610851A>G | CA047769 | FBN1 | c.248-25T>C (n.248-25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610851A>T | CA047755 | FBN1 | c.248-25T>A (n.248-25T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610852G>A | CA270059176 | FBN1 | c.248-26C>T (n.248-26C>T)
| dbSNP |
| 15 | g.48610852G= | CA2175573562 | FBN1 | c.248-26C= (n.248-26C=)
| |
| 15 | g.48610852G>T | CA2628338061 | FBN1 | c.248-26C>A (n.248-26C>A)
| gnomAD v4 |
| 15 | g.48610854A= | CA2175573563 | FBN1 | c.248-28T= (n.248-28T=)
| |
| 15 | g.48610854A>C | CA617942666 | FBN1 | c.248-28T>G (n.248-28T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610854A>G | CA2730604668 | FBN1 | c.248-28T>C (n.248-28T>C)
| dbSNP |
| 15 | g.48610856A= | CA2175573564 | FBN1 | c.248-30T= (n.248-30T=)
| |
| 15 | g.48610856A>G | CA047775 | FBN1 | c.248-30T>C (n.248-30T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610857T>C | CA2628338062 | FBN1 | c.248-31A>G (n.248-31A>G)
| gnomAD v4 |
| 15 | g.48610858G>A | CA2628338064 | FBN1 | c.248-32C>T (n.248-32C>T)
| gnomAD v4 |
| 15 | g.48610858G>T | CA2628338063 | FBN1 | c.248-32C>A (n.248-32C>A)
| gnomAD v4 |
| 15 | g.48610859G>A | CA2628338065 | FBN1 | c.248-33C>T (n.248-33C>T)
| gnomAD v4 |
| 15 | g.48610859G>C | CA969556489 | FBN1 | c.248-33C>G (n.248-33C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610859G= | CA2175573565 | FBN1 | c.248-33C= (n.248-33C=)
| |
| 15 | g.48610859G>T | CA2628338066 | FBN1 | c.248-33C>A (n.248-33C>A)
| gnomAD v4 |
| 15 | g.48610861T>C | CA2628338067 | FBN1 | c.248-35A>G (n.248-35A>G)
| gnomAD v4 |
| 15 | g.48610862T>A | CA2628338068 | FBN1 | c.248-36A>T (n.248-36A>T)
| gnomAD v4 |
| 15 | g.48610862T>C | CA047787 | FBN1 | c.248-36A>G (n.248-36A>G)
| dbSNP ExAC gnomAD v2 |
| 15 | g.48610862T>G | CA2175573567 | FBN1 | c.248-36A>C (n.248-36A>C)
| dbSNP |
| 15 | g.48610862T= | CA2175573566 | FBN1 | c.248-36A= (n.248-36A=)
| |
| 15 | g.48610865G>A | CA2628338069 | FBN1 | c.248-39C>T (n.248-39C>T)
| gnomAD v4 |
| 15 | g.48610865G>T | CA2575717783 | FBN1 | c.248-39C>A (n.248-39C>A)
| |
| 15 | g.48610866A>C | CA2628338070 | FBN1 | c.248-40T>G (n.248-40T>G)
| gnomAD v4 |
| 15 | g.48610866A>T | CA2575717784 | FBN1 | c.248-40T>A (n.248-40T>A)
| |
| 15 | g.48610867A= | CA2175573568 | FBN1 | c.248-41T= (n.248-41T=)
| |
| 15 | g.48610867A>G | CA713374086 | FBN1 | c.248-41T>C (n.248-41T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610869A= | CA2175573569 | FBN1 | c.248-43T= (n.248-43T=)
| |
| 15 | g.48610869A>G | CA713374090 | FBN1 | c.248-43T>C (n.248-43T>C)
| dbSNP gnomAD v4 |
| 15 | g.48610870C>A | CA2581214201 | FBN1 | c.248-44G>T (n.248-44G>T)
| |
| 15 | g.48610870C= | CA2175573570 | FBN1 | c.248-44G= (n.248-44G=)
| |
| 15 | g.48610870C>G | CA2581214200 | FBN1 | c.248-44G>C (n.248-44G>C)
| |
| 15 | g.48610870C>T | CA047793 | FBN1 | c.248-44G>A (n.248-44G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610871G>A | CA047799 | FBN1 | c.248-45C>T (n.248-45C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610871G= | CA2175573571 | FBN1 | c.248-45C= (n.248-45C=)
| |
| 15 | g.48610871G>T | CA2628338071 | FBN1 | c.248-45C>A (n.248-45C>A)
| gnomAD v4 |
