| 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 |
| 15 | g.48610873T>C | CA2175573572 | FBN1 | c.248-47A>G (n.248-47A>G)
| dbSNP |
| 15 | g.48610873T>G | CA617942670 | FBN1 | c.248-47A>C (n.248-47A>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610873T= | CA2175573573 | FBN1 | c.248-47A= (n.248-47A=)
| |
| 15 | g.48610876G>A | CA047813 | FBN1 | c.248-50C>T (n.248-50C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610876G= | CA2175573574 | FBN1 | c.248-50C= (n.248-50C=)
| |
| 15 | g.48610877T>C | CA2175573576 | FBN1 | c.248-51A>G (n.248-51A>G)
| dbSNP gnomAD v4 |
| 15 | g.48610877T= | CA2175573575 | FBN1 | c.248-51A= (n.248-51A=)
| |
| 15 | g.48610878T>C | CA2575717785 | FBN1 | c.248-52A>G (n.248-52A>G)
| |
| 15 | g.48610880T>C | CA270059214 | FBN1 | c.248-54A>G (n.248-54A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610880T= | CA2175573577 | FBN1 | c.248-54A= (n.248-54A=)
| |
| 15 | g.48610882G>A | CA713374100 | FBN1 | c.248-56C>T (n.248-56C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610882G>C | CA2628338072 | FBN1 | c.248-56C>G (n.248-56C>G)
| gnomAD v4 |
| 15 | g.48610882G= | CA2175573578 | FBN1 | c.248-56C= (n.248-56C=)
| |
| 15 | g.48610883G>C | CA2175573580 | FBN1 | c.248-57C>G (n.248-57C>G)
| dbSNP gnomAD v4 |
| 15 | g.48610883G= | CA2175573579 | FBN1 | c.248-57C= (n.248-57C=)
| |
| 15 | g.48610883G>T | CA2628338073 | FBN1 | c.248-57C>A (n.248-57C>A)
| gnomAD v4 |
| 15 | g.48610884G>C | CA2575717786 | FBN1 | c.248-58C>G (n.248-58C>G)
| |
| 15 | g.48610885G>T | CA2566042980 | FBN1 | c.248-59C>A (n.248-59C>A)
| gnomAD v4 |
| 15 | g.48610888C= | CA2175573581 | FBN1 | c.248-62G= (n.248-62G=)
| |
| 15 | g.48610888C>G | CA2175573582 | FBN1 | c.248-62G>C (n.248-62G>C)
| dbSNP gnomAD v4 |
| 15 | g.48610889A>G | CA2575717787 | FBN1 | c.248-63T>C (n.248-63T>C)
| |
| 15 | g.48610890A>T | CA2628338074 | FBN1 | c.248-64T>A (n.248-64T>A)
| gnomAD v4 |
| 15 | g.48610891T>C | CA2575717788 | FBN1 | c.248-65A>G (n.248-65A>G)
| gnomAD v4 |
| 15 | g.48610892C>A | CA2628338075 | FBN1 | c.248-66G>T (n.248-66G>T)
| gnomAD v4 |
| 15 | g.48610893C>A | CA2628338076 | FBN1 | c.248-67G>T (n.248-67G>T)
| gnomAD v4 |
| 15 | g.48610893C>T | CA2628338077 | FBN1 | c.248-67G>A (n.248-67G>A)
| gnomAD v4 |
| 15 | g.48610894T>C | CA969556501 | FBN1 | c.248-68A>G (n.248-68A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610894T= | CA2175573583 | FBN1 | c.248-68A= (n.248-68A=)
| |
| 15 | g.48610897A= | CA2175573584 | FBN1 | c.248-71T= (n.248-71T=)
| |
| 15 | g.48610897A>C | CA2628338078 | FBN1 | c.248-71T>G (n.248-71T>G)
| gnomAD v4 |
| 15 | g.48610897A>G | CA713374105 | FBN1 | c.248-71T>C (n.248-71T>C)
| dbSNP gnomAD v4 |
| 15 | g.48610897A>T | CA2628338079 | FBN1 | c.248-71T>A (n.248-71T>A)
| gnomAD v4 |
| 15 | g.48610898A>C | CA2628338080 | FBN1 | c.248-72T>G (n.248-72T>G)
| gnomAD v4 |
| 15 | g.48610898A>T | CA2628338081 | FBN1 | c.248-72T>A (n.248-72T>A)
| gnomAD v4 |
| 15 | g.48610899T>C | CA2628338082 | FBN1 | c.248-73A>G (n.248-73A>G)
| gnomAD v4 |
