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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474298_48474301del | CA658798358 | FBN1 | c.4168_4171del (p.Leu1390AlafsTer22) n.2842_2845del c.840_843del (p.Cys281GlnfsTer7) | ClinVar dbSNP |
| 15 | g.48474300A= | CA2175495196 | FBN1 | c.4165T= (p.Cys1389=) n.2839T= c.837T= (p.Ala279=) | |
| 15 | g.48474300A>C | CA014826 | FBN1 | c.4165T>G (p.Cys1389Gly) n.2839T>G c.837T>G (p.Ala279=) | ClinVar dbSNP |
| 15 | g.48474300A>G | CA392320162 | FBN1 | c.4165T>C (p.Cys1389Arg) n.2839T>C c.837T>C (p.Ala279=) | dbSNP |
| 15 | g.48474300A>T | CA392320164 | FBN1 | c.4165T>A (p.Cys1389Ser) n.2839T>A c.837T>A (p.Ala279=) | |
| 15 | g.48474301G>A | CA490014781 | FBN1 | c.4164C>T (p.Arg1388=) n.2838C>T c.836C>T (p.Ala279Val) | COSMIC |
| 15 | g.48474301G>C | CA490014782 | FBN1 | c.4164C>G (p.Arg1388=) n.2838C>G c.836C>G (p.Ala279Gly) | |
| 15 | g.48474301G= | CA2175495202 | FBN1 | c.4164C= (p.Arg1388=) n.2838C= c.836C= (p.Ala279=) | |
| 15 | g.48474301G>T | CA269520393 | FBN1 | c.4164C>A (p.Arg1388=) n.2838C>A c.836C>A (p.Ala279Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474302_48474303del | CA2580089709 | FBN1 | c.4163_4164del (p.Arg1388LeufsTer10) n.2837_2838del c.835_836del (p.Ala279CysfsTer?) | ClinVar |
| 15 | g.48474302C>A | CA392320166 | FBN1 | c.4163G>T (p.Arg1388Leu) n.2837G>T c.835G>T (p.Ala279Ser) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474302C= | CA2175495213 | FBN1 | c.4163G= (p.Arg1388=) n.2837G= c.835G= (p.Ala279=) | |
| 15 | g.48474302C>G | CA392320168 | FBN1 | c.4163G>C (p.Arg1388Pro) n.2837G>C c.835G>C (p.Ala279Pro) | ClinVar dbSNP |
| 15 | g.48474302C>T | CA052135 | FBN1 | c.4163G>A (p.Arg1388His) n.2837G>A c.835G>A (p.Ala279Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474303G>A | CA052126 | FBN1 | c.4162C>T (p.Arg1388Cys) n.2836C>T c.834C>T (p.Thr278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474303G>C | CA392320173 | FBN1 | c.4162C>G (p.Arg1388Gly) n.2836C>G c.834C>G (p.Thr278=) | |
| 15 | g.48474303G= | CA2175495234 | FBN1 | c.4162C= (p.Arg1388=) n.2836C= c.834C= (p.Thr278=) | |
| 15 | g.48474303G>T | CA392320175 | FBN1 | c.4162C>A (p.Arg1388Ser) n.2836C>A c.834C>A (p.Thr278=) | ClinVar dbSNP |
| 15 | g.48474304G>A | CA490014787 | FBN1 | c.4161C>T (p.Tyr1387=) n.2835C>T c.833C>T (p.Thr278Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474304G>C | CA392320177 | FBN1 | c.4161C>G (p.Tyr1387Ter) n.2835C>G c.833C>G (p.Thr278Ser) | |
| 15 | g.48474304G= | CA2175495247 | FBN1 | c.4161C= (p.Tyr1387=) n.2835C= c.833C= (p.Thr278=) | |
| 15 | g.48474304G>T | CA392320178 | FBN1 | c.4161C>A (p.Tyr1387Ter) n.2835C>A c.833C>A (p.Thr278Asn) | ClinVar |
| 15 | g.48474305T>A | CA392320182 | FBN1 | c.4160A>T (p.Tyr1387Phe) n.2834A>T c.832A>T (p.Thr278Ser) | |
| 15 | g.48474305T>C | CA014815 | FBN1 | c.4160A>G (p.Tyr1387Cys) n.2834A>G c.832A>G (p.Thr278Ala) | ClinVar dbSNP |
| 15 | g.48474305T>G | CA392320181 | FBN1 | c.4160A>C (p.Tyr1387Ser) n.2834A>C c.832A>C (p.Thr278Pro) | |
| 15 | g.48474305T= | CA2175495251 | FBN1 | c.4160A= (p.Tyr1387=) n.2834A= c.832A= (p.Thr278=) | |
| 15 | g.48474305dup | CA2580089710 | FBN1 | c.4160dup (p.Tyr1387Ter) n.2834dup c.832dup (p.Thr278AsnfsTer?) | ClinVar |
| 15 | g.48474306A= | CA2175495255 | FBN1 | c.4159T= (p.Tyr1387=) n.2833T= c.831T= (p.Leu277=) | |
| 15 | g.48474306A>C | CA392320183 | FBN1 | c.4159T>G (p.Tyr1387Asp) n.2833T>G c.831T>G (p.Leu277=) | ClinVar dbSNP |
| 15 | g.48474306A>G | CA392320184 | FBN1 | c.4159T>C (p.Tyr1387His) n.2833T>C c.831T>C (p.Leu277=) | |
| 15 | g.48474306A>T | CA392320186 | FBN1 | c.4159T>A (p.Tyr1387Asn) n.2833T>A c.831T>A (p.Leu277=) | |
| 15 | g.48474307A>C | CA490014791 | FBN1 | c.4158T>G (p.Ser1386=) n.2832T>G c.830T>G (p.Leu277Arg) | |
| 15 | g.48474307A>G | CA490014792 | FBN1 | c.4158T>C (p.Ser1386=) n.2832T>C c.830T>C (p.Leu277Pro) | |
| 15 | g.48474307A>T | CA490014793 | FBN1 | c.4158T>A (p.Ser1386=) n.2832T>A c.830T>A (p.Leu277His) | |
| 15 | g.48474308G>A | CA014797 | FBN1 | c.4157C>T (p.Ser1386Phe) n.2831C>T c.829C>T (p.Leu277Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474308G>C | CA392320192 | FBN1 | c.4157C>G (p.Ser1386Cys) n.2831C>G c.829C>G (p.Leu277Val) | dbSNP |
| 15 | g.48474308G= | CA2175495260 | FBN1 | c.4157C= (p.Ser1386=) n.2831C= c.829C= (p.Leu277=) | |
| 15 | g.48474308G>T | CA392320194 | FBN1 | c.4157C>A (p.Ser1386Tyr) n.2831C>A c.829C>A (p.Leu277Ile) | |
| 15 | g.48474309A>C | CA392320196 | FBN1 | c.4156T>G (p.Ser1386Ala) n.2830T>G c.828T>G (p.Asp276Glu) | |
| 15 | g.48474309A>G | CA392320198 | FBN1 | c.4156T>C (p.Ser1386Pro) n.2830T>C c.828T>C (p.Asp276=) | |
| 15 | g.48474309A>T | CA392320200 | FBN1 | c.4156T>A (p.Ser1386Thr) n.2830T>A c.828T>A (p.Asp276Glu) | |
| 15 | g.48474309_48474310delinsAT | CA2175495266 | FBN1 | c.4155_4156delinsAT (p.Gly1385=) n.2829_2830delinsAT c.827_828delinsAT (p.Asp276=) | |
| 15 | g.48474310del | CA1139663888 | FBN1 | c.4155del (p.Ser1386LeufsTer27) n.2829del c.827del (p.Asp276ValfsTer13) | ClinVar dbSNP |
| 15 | g.48474310T>A | CA490014800 | FBN1 | c.4155A>T (p.Gly1385=) n.2829A>T c.827A>T (p.Asp276Val) | ClinVar dbSNP |
| 15 | g.48474310T>C | CA490014798 | FBN1 | c.4155A>G (p.Gly1385=) n.2829A>G c.827A>G (p.Asp276Gly) | |
| 15 | g.48474310T>G | CA490014796 | FBN1 | c.4155A>C (p.Gly1385=) n.2829A>C c.827A>C (p.Asp276Ala) | gnomAD v4 |
| 15 | g.48474310_48474311delinsTC | CA2175495274 | FBN1 | c.4154_4155delinsGA (p.Gly1385=) n.2828_2829delinsGA c.826_827delinsGA (p.Asp276=) | |
| 15 | g.48474311C>A | CA392320202 | FBN1 | c.4154G>T (p.Gly1385Val) n.2828G>T c.826G>T (p.Asp276Tyr) | ClinVar dbSNP |
| 15 | g.48474311C>G | CA392320204 | FBN1 | c.4154G>C (p.Gly1385Ala) n.2828G>C c.826G>C (p.Asp276His) | |
| 15 | g.48474311C>T | CA392320206 | FBN1 | c.4154G>A (p.Gly1385Glu) n.2828G>A c.826G>A (p.Asp276Asn) | |
| 15 | g.48474313del | CA1139663889 | FBN1 | c.4154del (p.Gly1385AspfsTer28) n.2828del c.826del (p.Asp276IlefsTer13) | ClinVar dbSNP |
| 15 | g.48474311_48474316del | CA915940949 | FBN1 | c.4149_4154del (p.Met1384_Gly1385del) n.2823_2828del c.821_826del (p.Pro274_Asp276delinsHis) | ClinVar |
| 15 | g.48474312C>A | CA392320212 | FBN1 | c.4153G>T (p.Gly1385Ter) n.2827G>T c.825G>T (p.Trp275Cys) | |
| 15 | g.48474312C>G | CA392320210 | FBN1 | c.4153G>C (p.Gly1385Arg) n.2827G>C c.825G>C (p.Trp275Cys) | |
| 15 | g.48474312C>T | CA392320208 | FBN1 | c.4153G>A (p.Gly1385Arg) n.2827G>A c.825G>A (p.Trp275Ter) | |
| 15 | g.48474313C>A | CA392320214 | FBN1 | c.4152G>T (p.Met1384Ile) n.2826G>T c.824G>T (p.Trp275Leu) | |
| 15 | g.48474313C= | CA2175495288 | FBN1 | c.4152G= (p.Met1384=) n.2826G= c.824G= (p.Trp275=) | |
| 15 | g.48474313C>G | CA392320215 | FBN1 | c.4152G>C (p.Met1384Ile) n.2826G>C c.824G>C (p.Trp275Ser) | |
| 15 | g.48474313C>T | CA392320216 | FBN1 | c.4152G>A (p.Met1384Ile) n.2826G>A c.824G>A (p.Trp275Ter) | ClinVar dbSNP gnomAD v2 |
| 15 | g.48474315_48474327del | CA2695220631 | FBN1 | c.4140_4152del (p.Cys1380TrpfsTer29) n.2814_2826del c.812_824del (p.Ala271GlyfsTer14) | |
| 15 | g.48474314A= | CA2175495304 | FBN1 | c.4151T= (p.Met1384=) n.2825T= c.823T= (p.Trp275=) | |
| 15 | g.48474314A>C | CA392320217 | FBN1 | c.4151T>G (p.Met1384Arg) n.2825T>G c.823T>G (p.Trp275Gly) | |
| 15 | g.48474314A>G | CA392320218 | FBN1 | c.4151T>C (p.Met1384Thr) n.2825T>C c.823T>C (p.Trp275Arg) | ClinVar dbSNP |
| 15 | g.48474314A>T | CA392320219 | FBN1 | c.4151T>A (p.Met1384Lys) n.2825T>A c.823T>A (p.Trp275Arg) | |
| 15 | g.48474315T>A | CA392320220 | FBN1 | c.4150A>T (p.Met1384Leu) n.2824A>T c.822A>T (p.Pro274=) | dbSNP |
| 15 | g.48474315T>C | CA014788 | FBN1 | c.4150A>G (p.Met1384Val) n.2824A>G c.822A>G (p.Pro274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474315T>G | CA392320222 | FBN1 | c.4150A>C (p.Met1384Leu) n.2824A>C c.822A>C (p.Pro274=) | |
| 15 | g.48474315T= | CA2175495313 | FBN1 | c.4150A= (p.Met1384=) n.2824A= c.822A= (p.Pro274=) | |
| 15 | g.48474316G>A | CA490014807 | FBN1 | c.4149C>T (p.Thr1383=) n.2823C>T c.821C>T (p.Pro274Leu) | |
| 15 | g.48474316G>C | CA490014809 | FBN1 | c.4149C>G (p.Thr1383=) n.2823C>G c.821C>G (p.Pro274Arg) | ClinVar |
| 15 | g.48474316G>T | CA490014808 | FBN1 | c.4149C>A (p.Thr1383=) n.2823C>A c.821C>A (p.Pro274Gln) | |
| 15 | g.48474317G>A | CA392320225 | FBN1 | c.4148C>T (p.Thr1383Ile) n.2822C>T c.820C>T (p.Pro274Ser) | gnomAD v4 |
| 15 | g.48474317G>C | CA392320227 | FBN1 | c.4148C>G (p.Thr1383Ser) n.2822C>G c.820C>G (p.Pro274Ala) | |
| 15 | g.48474317G= | CA2175495319 | FBN1 | c.4148C= (p.Thr1383=) n.2822C= c.820C= (p.Pro274=) | |
| 15 | g.48474317G>T | CA392320228 | FBN1 | c.4148C>A (p.Thr1383Asn) n.2822C>A c.820C>A (p.Pro274Thr) | |
| 15 | g.48474318T>A | CA392320232 | FBN1 | c.4147A>T (p.Thr1383Ser) n.2821A>T c.819A>T (p.Ile273=) | |
| 15 | g.48474318T>C | CA392320234 | FBN1 | c.4147A>G (p.Thr1383Ala) n.2821A>G c.819A>G (p.Ile273Met) | gnomAD v4 |
| 15 | g.48474318T>G | CA392320230 | FBN1 | c.4147A>C (p.Thr1383Pro) n.2821A>C c.819A>C (p.Ile273=) | |
| 15 | g.48474319A= | CA2175495333 | FBN1 | c.4146T= (p.Asn1382=) n.2820T= c.818T= (p.Ile273=) | |
| 15 | g.48474319A>C | CA392320240 | FBN1 | c.4146T>G (p.Asn1382Lys) n.2820T>G c.818T>G (p.Ile273Arg) | |
| 15 | g.48474319A>G | CA490014812 | FBN1 | c.4146T>C (p.Asn1382=) n.2820T>C c.818T>C (p.Ile273Thr) | ClinVar |
| 15 | g.48474319A>T | CA014779 | FBN1 | c.4146T>A (p.Asn1382Lys) n.2820T>A c.818T>A (p.Ile273Lys) | ClinVar dbSNP |
| 15 | g.48474320T>A | CA392320244 | FBN1 | c.4145A>T (p.Asn1382Ile) n.2819A>T c.817A>T (p.Ile273Leu) | ClinVar dbSNP |
| 15 | g.48474320T>C | CA16602235 | FBN1 | c.4145A>G (p.Asn1382Ser) n.2819A>G c.817A>G (p.Ile273Val) | |
| 15 | g.48474320T>G | CA392320246 | FBN1 | c.4145A>C (p.Asn1382Thr) n.2819A>C c.817A>C (p.Ile273Leu) | |
| 15 | g.48474320T= | CA2175495354 | FBN1 | c.4145A= (p.Asn1382=) n.2819A= c.817A= (p.Ile273=) | |
| 15 | g.48474321dup | CA16614431 | FBN1 | c.4145dup (p.Asn1382LysfsTer17) n.2819dup c.817dup (p.Ile273AsnfsTer?) | ClinVar dbSNP |
| 15 | g.48474322_48474324del | CA2695220632 | FBN1 | c.4143_4145del (p.Lys1381del) n.2817_2819del c.815_817del (p.Arg272del) | |
| 15 | g.48474321T>A | CA392320251 | FBN1 | c.4144A>T (p.Asn1382Tyr) n.2818A>T c.816A>T (p.Arg272Ser) | ClinVar |
| 15 | g.48474321T>C | CA392320248 | FBN1 | c.4144A>G (p.Asn1382Asp) n.2818A>G c.816A>G (p.Arg272=) | |
| 15 | g.48474321T>G | CA392320249 | FBN1 | c.4144A>C (p.Asn1382His) n.2818A>C c.816A>C (p.Arg272Ser) | |
| 15 | g.48474322del | CA2695220633 | FBN1 | c.4143del (p.Asn1382IlefsTer?) n.2817del c.815del (p.Arg272LysfsTer17) | |
| 15 | g.48474322C>A | CA392320253 | FBN1 | c.4143G>T (p.Lys1381Asn) n.2817G>T c.815G>T (p.Arg272Ile) | |
| 15 | g.48474322C= | CA2175495363 | FBN1 | c.4143G= (p.Lys1381=) n.2817G= c.815G= (p.Arg272=) | |
| 15 | g.48474322C>G | CA392320255 | FBN1 | c.4143G>C (p.Lys1381Asn) n.2817G>C c.815G>C (p.Arg272Thr) | ClinVar dbSNP |
| 15 | g.48474322C>T | CA490014817 | FBN1 | c.4143G>A (p.Lys1381=) n.2817G>A c.815G>A (p.Arg272Lys) | gnomAD v4 |
| 15 | g.48474323T>A | CA392320256 | FBN1 | c.4142A>T (p.Lys1381Met) n.2816A>T c.814A>T (p.Arg272Ter) | |
| 15 | g.48474323T>C | CA392320257 | FBN1 | c.4142A>G (p.Lys1381Arg) n.2816A>G c.814A>G (p.Arg272Gly) | |
| 15 | g.48474323T>G | CA392320258 | FBN1 | c.4142A>C (p.Lys1381Thr) n.2816A>C c.814A>C (p.Arg272=) | |
| 15 | g.48474323_48474330delinsTTGCAGTC | CA2175495365 | FBN1 | c.4135_4142delinsGACTGCAA (p.Asp1379=) n.2809_2816delinsGACTGCAA c.807_814delinsGACTGCAA (p.Gln269=) | |
| 15 | g.48474324T>A | CA392320260 | FBN1 | c.4141A>T (p.Lys1381Ter) n.2815A>T c.813A>T (p.Ala271=) | |
| 15 | g.48474324T>C | CA392320259 | FBN1 | c.4141A>G (p.Lys1381Glu) n.2815A>G c.813A>G (p.Ala271=) | gnomAD v4 |
| 15 | g.48474324T>G | CA392320261 | FBN1 | c.4141A>C (p.Lys1381Gln) n.2815A>C c.813A>C (p.Ala271=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474324T= | CA2175495376 | FBN1 | c.4141A= (p.Lys1381=) n.2815A= c.813A= (p.Ala271=) | |
| 15 | g.48474328_48474334del | CA10587826 | FBN1 | c.4135_4141del (p.Asp1379ArgfsTer?) n.2809_2815del c.807_813del (p.Thr270GlufsTer17) | ClinVar dbSNP |
| 15 | g.48474325G>A | CA490014822 | FBN1 | c.4140C>T (p.Cys1380=) n.2814C>T c.812C>T (p.Ala271Val) | |
| 15 | g.48474325G>C | CA392320263 | FBN1 | c.4140C>G (p.Cys1380Trp) n.2814C>G c.812C>G (p.Ala271Gly) | |
| 15 | g.48474325G>T | CA392320262 | FBN1 | c.4140C>A (p.Cys1380Ter) n.2814C>A c.812C>A (p.Ala271Glu) | |
| 15 | g.48474326C>A | CA392320266 | FBN1 | c.4139G>T (p.Cys1380Phe) n.2813G>T c.811G>T (p.Ala271Ser) | |
| 15 | g.48474326C= | CA2175495394 | FBN1 | c.4139G= (p.Cys1380=) n.2813G= c.811G= (p.Ala271=) | |
| 15 | g.48474326C>G | CA392320264 | FBN1 | c.4139G>C (p.Cys1380Ser) n.2813G>C c.811G>C (p.Ala271Pro) | |
| 15 | g.48474326C>T | CA392320265 | FBN1 | c.4139G>A (p.Cys1380Tyr) n.2813G>A c.811G>A (p.Ala271Thr) | ClinVar dbSNP gnomAD v2 COSMIC |
| 15 | g.48474327A= | CA2175495403 | FBN1 | c.4138T= (p.Cys1380=) n.2812T= c.810T= (p.Thr270=) | |
| 15 | g.48474327A>C | CA392320267 | FBN1 | c.4138T>G (p.Cys1380Gly) n.2812T>G c.810T>G (p.Thr270=) | |
| 15 | g.48474327A>G | CA392320268 | FBN1 | c.4138T>C (p.Cys1380Arg) n.2812T>C c.810T>C (p.Thr270=) | ClinVar dbSNP |
| 15 | g.48474327A>T | CA392320269 | FBN1 | c.4138T>A (p.Cys1380Ser) n.2812T>A c.810T>A (p.Thr270=) | |
| 15 | g.48474328G>A | CA490014824 | FBN1 | c.4137C>T (p.Asp1379=) n.2811C>T c.809C>T (p.Thr270Ile) | |
| 15 | g.48474328G>C | CA052120 | FBN1 | c.4137C>G (p.Asp1379Glu) n.2811C>G c.809C>G (p.Thr270Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474328G= | CA2175495410 | FBN1 | c.4137C= (p.Asp1379=) n.2811C= c.809C= (p.Thr270=) | |
| 15 | g.48474328G>T | CA392320270 | FBN1 | c.4137C>A (p.Asp1379Glu) n.2811C>A c.809C>A (p.Thr270Asn) | |
| 15 | g.48474329T>A | CA392320271 | FBN1 | c.4136A>T (p.Asp1379Val) n.2810A>T c.808A>T (p.Thr270Ser) | |
| 15 | g.48474329T>C | CA392320272 | FBN1 | c.4136A>G (p.Asp1379Gly) n.2810A>G c.808A>G (p.Thr270Ala) | |
| 15 | g.48474329T>G | CA392320273 | FBN1 | c.4136A>C (p.Asp1379Ala) n.2810A>C c.808A>C (p.Thr270Pro) | |
| 15 | g.48474330C>A | CA392320274 | FBN1 | c.4135G>T (p.Asp1379Tyr) n.2809G>T c.807G>T (p.Gln269His) | |
| 15 | g.48474330C>G | CA392320275 | FBN1 | c.4135G>C (p.Asp1379His) n.2809G>C c.807G>C (p.Gln269His) | |
| 15 | g.48474330C>T | CA392320276 | FBN1 | c.4135G>A (p.Asp1379Asn) n.2809G>A c.807G>A (p.Gln269=) | |
| 15 | g.48474331T>A | CA490014830 | FBN1 | c.4134A>T (p.Ala1378=) n.2808A>T c.806A>T (p.Gln269Leu) | ClinVar |
| 15 | g.48474331T>C | CA490014828 | FBN1 | c.4134A>G (p.Ala1378=) n.2808A>G c.806A>G (p.Gln269Arg) | |
| 15 | g.48474331T>G | CA490014829 | FBN1 | c.4134A>C (p.Ala1378=) n.2808A>C c.806A>C (p.Gln269Pro) | |
| 15 | g.48474332G>A | CA392320277 | FBN1 | c.4133C>T (p.Ala1378Val) n.2807C>T c.805C>T (p.Gln269Ter) | |
| 15 | g.48474332G>C | CA392320279 | FBN1 | c.4133C>G (p.Ala1378Gly) n.2807C>G c.805C>G (p.Gln269Glu) | |
| 15 | g.48474332G>T | CA392320278 | FBN1 | c.4133C>A (p.Ala1378Glu) n.2807C>A c.805C>A (p.Gln269Lys) | |
| 15 | g.48474333C>A | CA392320280 | FBN1 | c.4132G>T (p.Ala1378Ser) n.2806G>T c.804G>T (p.Met268Ile) | |
| 15 | g.48474333C>G | CA392320281 | FBN1 | c.4132G>C (p.Ala1378Pro) n.2806G>C c.804G>C (p.Met268Ile) | |
| 15 | g.48474333C>T | CA392320282 | FBN1 | c.4132G>A (p.Ala1378Thr) n.2806G>A c.804G>A (p.Met268Ile) | |
| 15 | g.48474334A>C | CA392320283 | FBN1 | c.4131T>G (p.His1377Gln) n.2805T>G c.803T>G (p.Met268Arg) | |
| 15 | g.48474334A>G | CA490014834 | FBN1 | c.4131T>C (p.His1377=) n.2805T>C c.803T>C (p.Met268Thr) | gnomAD v4 |
| 15 | g.48474334A>T | CA392320284 | FBN1 | c.4131T>A (p.His1377Gln) n.2805T>A c.803T>A (p.Met268Lys) | |
| 15 | g.48474335T>A | CA392320285 | FBN1 | c.4130A>T (p.His1377Leu) n.2804A>T c.802A>T (p.Met268Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474335T>C | CA392320286 | FBN1 | c.4130A>G (p.His1377Arg) n.2804A>G c.802A>G (p.Met268Val) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474335T>G | CA392320287 | FBN1 | c.4130A>C (p.His1377Pro) n.2804A>C c.802A>C (p.Met268Leu) | |
| 15 | g.48474335T= | CA2175495417 | FBN1 | c.4130A= (p.His1377=) n.2804A= c.802A= (p.Met268=) | |
| 15 | g.48474336G>A | CA392320288 | FBN1 | c.4129C>T (p.His1377Tyr) n.2803C>T c.801C>T (p.Ser267=) | |
| 15 | g.48474336G>C | CA392320289 | FBN1 | c.4129C>G (p.His1377Asp) n.2803C>G c.801C>G (p.Ser267Arg) | |
| 15 | g.48474336G>T | CA392320290 | FBN1 | c.4129C>A (p.His1377Asn) n.2803C>A c.801C>A (p.Ser267Arg) | |
| 15 | g.48474337C>A | CA392320292 | FBN1 | c.4128G>T (p.Gln1376His) n.2802G>T c.800G>T (p.Ser267Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474337C= | CA2175495430 | FBN1 | c.4128G= (p.Gln1376=) n.2802G= c.800G= (p.Ser267=) | |
| 15 | g.48474337C>G | CA392320291 | FBN1 | c.4128G>C (p.Gln1376His) n.2802G>C c.800G>C (p.Ser267Thr) | |
| 15 | g.48474337C>T | CA490014838 | FBN1 | c.4128G>A (p.Gln1376=) n.2802G>A c.800G>A (p.Ser267Asn) | |
| 15 | g.48474338T>A | CA392320293 | FBN1 | c.4127A>T (p.Gln1376Leu) n.2801A>T c.799A>T (p.Ser267Cys) | |
| 15 | g.48474338T>C | CA392320294 | FBN1 | c.4127A>G (p.Gln1376Arg) n.2801A>G c.799A>G (p.Ser267Gly) | ClinVar dbSNP |
| 15 | g.48474338T>G | CA392320295 | FBN1 | c.4127A>C (p.Gln1376Pro) n.2801A>C c.799A>C (p.Ser267Arg) | |
| 15 | g.48474338T= | CA2175495437 | FBN1 | c.4127A= (p.Gln1376=) n.2801A= c.799A= (p.Ser267=) | |
| 15 | g.48474339G>A | CA392320296 | FBN1 | c.4126C>T (p.Gln1376Ter) n.2800C>T c.798C>T (p.Ala266=) | |
| 15 | g.48474339G>C | CA392320297 | FBN1 | c.4126C>G (p.Gln1376Glu) n.2800C>G c.798C>G (p.Ala266=) | |
| 15 | g.48474339G>T | CA392320298 | FBN1 | c.4126C>A (p.Gln1376Lys) n.2800C>A c.798C>A (p.Ala266=) | |
| 15 | g.48474340G>A | CA490014841 | FBN1 | c.4125C>T (p.Ser1375=) n.2799C>T c.797C>T (p.Ala266Val) | |
| 15 | g.48474340G>C | CA392320299 | FBN1 | c.4125C>G (p.Ser1375Arg) n.2799C>G c.797C>G (p.Ala266Gly) | ClinVar dbSNP |
| 15 | g.48474340G= | CA2175495445 | FBN1 | c.4125C= (p.Ser1375=) n.2799C= c.797C= (p.Ala266=) | |
| 15 | g.48474340G>T | CA392320300 | FBN1 | c.4125C>A (p.Ser1375Arg) n.2799C>A c.797C>A (p.Ala266Asp) | |
| 15 | g.48474341C>A | CA392320301 | FBN1 | c.4124G>T (p.Ser1375Ile) n.2798G>T c.796G>T (p.Ala266Ser) | |
| 15 | g.48474341C= | CA2175495451 | FBN1 | c.4124G= (p.Ser1375=) n.2798G= c.796G= (p.Ala266=) | |
| 15 | g.48474341C>G | CA392320302 | FBN1 | c.4124G>C (p.Ser1375Thr) n.2798G>C c.796G>C (p.Ala266Pro) | gnomAD v4 |
| 15 | g.48474341C>T | CA392320303 | FBN1 | c.4124G>A (p.Ser1375Asn) n.2798G>A c.796G>A (p.Ala266Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474342T>A | CA392320304 | FBN1 | c.4123A>T (p.Ser1375Cys) n.2797A>T c.795A>T (p.Ala265=) | |
| 15 | g.48474342T>C | CA392320305 | FBN1 | c.4123A>G (p.Ser1375Gly) n.2797A>G c.795A>G (p.Ala265=) | gnomAD v4 |
| 15 | g.48474342T>G | CA392320306 | FBN1 | c.4123A>C (p.Ser1375Arg) n.2797A>C c.795A>C (p.Ala265=) | |
| 15 | g.48474343G>A | CA490014847 | FBN1 | c.4122C>T (p.Cys1374=) n.2796C>T c.794C>T (p.Ala265Val) | ClinVar |
| 15 | g.48474343G>C | CA392320307 | FBN1 | c.4122C>G (p.Cys1374Trp) n.2796C>G c.794C>G (p.Ala265Gly) | |
| 15 | g.48474343G= | CA2175495457 | FBN1 | c.4122C= (p.Cys1374=) n.2796C= c.794C= (p.Ala265=) | |
| 15 | g.48474343G>T | CA269520419 | FBN1 | c.4122C>A (p.Cys1374Ter) n.2796C>A c.794C>A (p.Ala265Glu) | ClinVar dbSNP |
| 15 | g.48474344C>A | CA392320308 | FBN1 | c.4121G>T (p.Cys1374Phe) n.2795G>T c.793G>T (p.Ala265Ser) | |
| 15 | g.48474344C>G | CA392320309 | FBN1 | c.4121G>C (p.Cys1374Ser) n.2795G>C c.793G>C (p.Ala265Pro) | |
| 15 | g.48474344C>T | CA392320310 | FBN1 | c.4121G>A (p.Cys1374Tyr) n.2795G>A c.793G>A (p.Ala265Thr) | ClinVar dbSNP |
| 15 | g.48474345A>C | CA392320311 | FBN1 | c.4120T>G (p.Cys1374Gly) n.2794T>G c.792T>G (p.Cys264Trp) | ClinVar dbSNP |
| 15 | g.48474345A>G | CA392320312 | FBN1 | c.4120T>C (p.Cys1374Arg) n.2794T>C c.792T>C (p.Cys264=) | ClinVar dbSNP |
| 15 | g.48474345A>T | CA392320313 | FBN1 | c.4120T>A (p.Cys1374Ser) n.2794T>A c.792T>A (p.Cys264Ter) | |
| 15 | g.48474346C>A | CA392320314 | FBN1 | c.4119G>T (p.Met1373Ile) n.2793G>T c.791G>T (p.Cys264Phe) | |
| 15 | g.48474346C>G | CA392320315 | FBN1 | c.4119G>C (p.Met1373Ile) n.2793G>C c.791G>C (p.Cys264Ser) | |
| 15 | g.48474346C>T | CA392320316 | FBN1 | c.4119G>A (p.Met1373Ile) n.2793G>A c.791G>A (p.Cys264Tyr) | gnomAD v4 |
| 15 | g.48474347A>C | CA392320317 | FBN1 | c.4118T>G (p.Met1373Arg) n.2792T>G c.790T>G (p.Cys264Gly) | |
| 15 | g.48474347A>G | CA392320318 | FBN1 | c.4118T>C (p.Met1373Thr) n.2792T>C c.790T>C (p.Cys264Arg) | |
| 15 | g.48474347A>T | CA392320319 | FBN1 | c.4118T>A (p.Met1373Lys) n.2792T>A c.790T>A (p.Cys264Ser) | |
| 15 | g.48474348T>A | CA392320321 | FBN1 | c.4117A>T (p.Met1373Leu) n.2791A>T c.789A>T (p.Ile263=) | |
| 15 | g.48474348T>C | CA052111 | FBN1 | c.4117A>G (p.Met1373Val) n.2791A>G c.789A>G (p.Ile263Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474348T>G | CA392320320 | FBN1 | c.4117A>C (p.Met1373Leu) n.2791A>C c.789A>C (p.Ile263=) | |
| 15 | g.48474348T= | CA2175495460 | FBN1 | c.4117A= (p.Met1373=) n.2791A= c.789A= (p.Ile263=) | |
| 15 | g.48474349A= | CA2175495466 | FBN1 | c.4116T= (p.His1372=) n.2790T= c.788T= (p.Ile263=) | |
| 15 | g.48474349A>C | CA052103 | FBN1 | c.4116T>G (p.His1372Gln) n.2790T>G c.788T>G (p.Ile263Arg) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474349A>G | CA490014855 | FBN1 | c.4116T>C (p.His1372=) n.2790T>C c.788T>C (p.Ile263Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474349A>T | CA392320322 | FBN1 | c.4116T>A (p.His1372Gln) n.2790T>A c.788T>A (p.Ile263Lys) | |
| 15 | g.48474350T>A | CA392320323 | FBN1 | c.4115A>T (p.His1372Leu) n.2789A>T c.787A>T (p.Ile263Leu) | |
| 15 | g.48474350T>C | CA392320324 | FBN1 | c.4115A>G (p.His1372Arg) n.2789A>G c.787A>G (p.Ile263Val) | |
| 15 | g.48474350T>G | CA392320325 | FBN1 | c.4115A>C (p.His1372Pro) n.2789A>C c.787A>C (p.Ile263Leu) | gnomAD v4 |
| 15 | g.48474351G>A | CA392320326 | FBN1 | c.4114C>T (p.His1372Tyr) n.2788C>T c.786C>T (p.Pro262=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474351G>C | CA392320327 | FBN1 | c.4114C>G (p.His1372Asp) n.2788C>G c.786C>G (p.Pro262=) | |
| 15 | g.48474351G= | CA2175495468 | FBN1 | c.4114C= (p.His1372=) n.2788C= c.786C= (p.Pro262=) | |
| 15 | g.48474351G>T | CA392320328 | FBN1 | c.4114C>A (p.His1372Asn) n.2788C>A c.786C>A (p.Pro262=) | |
| 15 | g.48474352G>A | CA490014859 | FBN1 | c.4113C>T (p.Thr1371=) n.2787C>T c.785C>T (p.Pro262Leu) | |
| 15 | g.48474352G>C | CA490014858 | FBN1 | c.4113C>G (p.Thr1371=) n.2787C>G c.785C>G (p.Pro262Arg) | |
| 15 | g.48474352G>T | CA490014857 | FBN1 | c.4113C>A (p.Thr1371=) n.2787C>A c.785C>A (p.Pro262His) | |
| 15 | g.48474353G>A | CA392320329 | FBN1 | c.4112C>T (p.Thr1371Ile) n.2786C>T c.784C>T (p.Pro262Ser) | |
| 15 | g.48474353G>C | CA392320330 | FBN1 | c.4112C>G (p.Thr1371Ser) n.2786C>G c.784C>G (p.Pro262Ala) | |
| 15 | g.48474353G>T | CA392320331 | FBN1 | c.4112C>A (p.Thr1371Asn) n.2786C>A c.784C>A (p.Pro262Thr) | |
| 15 | g.48474354T>A | CA392320332 | FBN1 | c.4111A>T (p.Thr1371Ser) n.2785A>T c.783A>T (p.Glu261Asp) | |
| 15 | g.48474354T>C | CA392320333 | FBN1 | c.4111A>G (p.Thr1371Ala) n.2785A>G c.783A>G (p.Glu261=) | ClinVar |
| 15 | g.48474354T>G | CA392320334 | FBN1 | c.4111A>C (p.Thr1371Pro) n.2785A>C c.783A>C (p.Glu261Asp) | |
| 15 | g.48474355T>A | CA490014865 | FBN1 | c.4110A>T (p.Gly1370=) n.2784A>T c.782A>T (p.Glu261Val) | |
| 15 | g.48474355T>C | CA490014863 | FBN1 | c.4110A>G (p.Gly1370=) n.2784A>G c.782A>G (p.Glu261Gly) | |
| 15 | g.48474355T>G | CA490014862 | FBN1 | c.4110A>C (p.Gly1370=) n.2784A>C c.782A>C (p.Glu261Ala) | |
| 15 | g.48474356C>A | CA392320336 | FBN1 | c.4109G>T (p.Gly1370Val) n.2783G>T c.781G>T (p.Glu261Ter) | |
| 15 | g.48474356C= | CA2175495472 | FBN1 | c.4109G= (p.Gly1370=) n.2783G= c.781G= (p.Glu261=) | |
| 15 | g.48474356C>G | CA392320335 | FBN1 | c.4109G>C (p.Gly1370Ala) n.2783G>C c.781G>C (p.Glu261Gln) | |
| 15 | g.48474356C>T | CA052099 | FBN1 | c.4109G>A (p.Gly1370Glu) n.2783G>A c.781G>A (p.Glu261Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474357C>A | CA392320337 | FBN1 | c.4108G>T (p.Gly1370Ter) n.2782G>T c.780G>T (p.Met260Ile) | COSMIC |
| 15 | g.48474357C>G | CA392320338 | FBN1 | c.4108G>C (p.Gly1370Arg) n.2782G>C c.780G>C (p.Met260Ile) | |
| 15 | g.48474357C>T | CA392320339 | FBN1 | c.4108G>A (p.Gly1370Arg) n.2782G>A c.780G>A (p.Met260Ile) | |
| 15 | g.48474358A= | CA2175495479 | FBN1 | c.4107T= (p.Asn1369=) n.2781T= c.779T= (p.Met260=) | |
| 15 | g.48474358A>C | CA392320340 | FBN1 | c.4107T>G (p.Asn1369Lys) n.2781T>G c.779T>G (p.Met260Arg) | |
| 15 | g.48474358A>G | CA490014868 | FBN1 | c.4107T>C (p.Asn1369=) n.2781T>C c.779T>C (p.Met260Thr) | ClinVar dbSNP |
| 15 | g.48474358A>T | CA052096 | FBN1 | c.4107T>A (p.Asn1369Lys) n.2781T>A c.779T>A (p.Met260Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474358_48474361dup | CA2628334479 | FBN1 | c.4104_4107dup (p.Gly1370GlnfsTer30) n.2778_2781dup c.776_779dup (p.Met260IlefsTer?) | gnomAD v4 |
| 15 | g.48474359T>A | CA392320341 | FBN1 | c.4106A>T (p.Asn1369Ile) n.2780A>T c.778A>T (p.Met260Leu) | dbSNP |
| 15 | g.48474359T>C | CA014768 | FBN1 | c.4106A>G (p.Asn1369Ser) n.2780A>G c.778A>G (p.Met260Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474359T>G | CA392320342 | FBN1 | c.4106A>C (p.Asn1369Thr) n.2780A>C c.778A>C (p.Met260Leu) | |
| 15 | g.48474359T= | CA2175495481 | FBN1 | c.4106A= (p.Asn1369=) n.2780A= c.778A= (p.Met260=) | |
| 15 | g.48474360T>A | CA392320343 | FBN1 | c.4105A>T (p.Asn1369Tyr) n.2779A>T c.777A>T (p.Pro259=) | |
| 15 | g.48474360T>C | CA392320344 | FBN1 | c.4105A>G (p.Asn1369Asp) n.2779A>G c.777A>G (p.Pro259=) | |
| 15 | g.48474360T>G | CA392320345 | FBN1 | c.4105A>C (p.Asn1369His) n.2779A>C c.777A>C (p.Pro259=) | |
| 15 | g.48474360_48474363delinsTGGA | CA2175495485 | FBN1 | c.4102_4105delinsTCCA (p.Ser1368=) n.2776_2779delinsTCCA c.774_777delinsTCCA (p.Val258=) | |
| 15 | g.48474361G>A | CA490014871 | FBN1 | c.4104C>T (p.Ser1368=) n.2778C>T c.776C>T (p.Pro259Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474361G>C | CA490014872 | FBN1 | c.4104C>G (p.Ser1368=) n.2778C>G c.776C>G (p.Pro259Arg) | |
| 15 | g.48474361G= | CA2175495493 | FBN1 | c.4104C= (p.Ser1368=) n.2778C= c.776C= (p.Pro259=) | |
| 15 | g.48474361G>T | CA490014873 | FBN1 | c.4104C>A (p.Ser1368=) n.2778C>A c.776C>A (p.Pro259Gln) | |
| 15 | g.48474361_48474363del | CA052081 | FBN1 | c.4102_4104del (p.Ser1368del) n.2776_2778del c.774_776del (p.Pro259del) | dbSNP ExAC gnomAD v2 |
| 15 | g.48474362G>A | CA392320348 | FBN1 | c.4103C>T (p.Ser1368Phe) n.2777C>T c.775C>T (p.Pro259Ser) | |
| 15 | g.48474362G>C | CA392320347 | FBN1 | c.4103C>G (p.Ser1368Cys) n.2777C>G c.775C>G (p.Pro259Ala) | |
| 15 | g.48474362G>T | CA392320346 | FBN1 | c.4103C>A (p.Ser1368Tyr) n.2777C>A c.775C>A (p.Pro259Thr) | |
| 15 | g.48474363A>C | CA392320349 | FBN1 | c.4102T>G (p.Ser1368Ala) n.2776T>G c.774T>G (p.Val258=) | |
| 15 | g.48474363A>G | CA392320350 | FBN1 | c.4102T>C (p.Ser1368Pro) n.2776T>C c.774T>C (p.Val258=) | |
| 15 | g.48474363A>T | CA392320351 | FBN1 | c.4102T>A (p.Ser1368Thr) n.2776T>A c.774T>A (p.Val258=) | |
| 15 | g.48474364A>C | CA392320352 | FBN1 | c.4101T>G (p.Cys1367Trp) n.2775T>G c.773T>G (p.Val258Gly) | |
| 15 | g.48474364A>G | CA490014877 | FBN1 | c.4101T>C (p.Cys1367=) n.2775T>C c.773T>C (p.Val258Ala) | |
| 15 | g.48474364A>T | CA392320353 | FBN1 | c.4101T>A (p.Cys1367Ter) n.2775T>A c.773T>A (p.Val258Asp) | ClinVar |
| 15 | g.48474365C>A | CA392320354 | FBN1 | c.4100G>T (p.Cys1367Phe) n.2774G>T c.772G>T (p.Val258Phe) | |
| 15 | g.48474365C>G | CA392320355 | FBN1 | c.4100G>C (p.Cys1367Ser) n.2774G>C c.772G>C (p.Val258Leu) | |
| 15 | g.48474365C>T | CA392320356 | FBN1 | c.4100G>A (p.Cys1367Tyr) n.2774G>A c.772G>A (p.Val258Ile) | ClinVar dbSNP |
| 15 | g.48474366A= | CA2175495501 | FBN1 | c.4099T= (p.Cys1367=) n.2773T= c.771T= (p.Asn257=) | |
| 15 | g.48474366A>C | CA392320357 | FBN1 | c.4099T>G (p.Cys1367Gly) n.2773T>G c.771T>G (p.Asn257Lys) | |
| 15 | g.48474366A>G | CA392320358 | FBN1 | c.4099T>C (p.Cys1367Arg) n.2773T>C c.771T>C (p.Asn257=) | ClinVar dbSNP |
| 15 | g.48474366A>T | CA392320359 | FBN1 | c.4099T>A (p.Cys1367Ser) n.2773T>A c.771T>A (p.Asn257Lys) | ClinVar dbSNP |
| 15 | g.48474367T>A | CA392320360 | FBN1 | c.4098A>T (p.Glu1366Asp) n.2772A>T c.770A>T (p.Asn257Ile) | |
| 15 | g.48474367T>C | CA490014880 | FBN1 | c.4098A>G (p.Glu1366=) n.2772A>G c.770A>G (p.Asn257Ser) | gnomAD v4 |
| 15 | g.48474367T>G | CA392320361 | FBN1 | c.4098A>C (p.Glu1366Asp) n.2772A>C c.770A>C (p.Asn257Thr) | |
| 15 | g.48474368dup | CA2740096596 | FBN1 | c.4098dup (p.Cys1367MetfsTer?) n.2772dup c.770dup (p.Asn257LysfsTer?) | ClinVar |
| 15 | g.48474368T>A | CA392320364 | FBN1 | c.4097A>T (p.Glu1366Val) n.2771A>T c.769A>T (p.Asn257Tyr) | |
| 15 | g.48474368T>C | CA392320362 | FBN1 | c.4097A>G (p.Glu1366Gly) n.2771A>G c.769A>G (p.Asn257Asp) | |
| 15 | g.48474368T>G | CA392320363 | FBN1 | c.4097A>C (p.Glu1366Ala) n.2771A>C c.769A>C (p.Asn257His) | |
| 15 | g.48474369C>A | CA392320365 | FBN1 | c.4096G>T (p.Glu1366Ter) n.2770G>T c.768G>T (p.Thr256=) | |
| 15 | g.48474369C= | CA2175495524 | FBN1 | c.4096G= (p.Glu1366=) n.2770G= c.768G= (p.Thr256=) | |
| 15 | g.48474369C>G | CA052073 | FBN1 | c.4096G>C (p.Glu1366Gln) n.2770G>C c.768G>C (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48474369C>T | CA014760 | FBN1 | c.4096G>A (p.Glu1366Lys) n.2770G>A c.768G>A (p.Thr256=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474370G>A | CA052067 | FBN1 | c.4095C>T (p.Asp1365=) n.2769C>T c.767C>T (p.Thr256Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474370G>C | CA392320366 | FBN1 | c.4095C>G (p.Asp1365Glu) n.2769C>G c.767C>G (p.Thr256Arg) | |
| 15 | g.48474370G= | CA2175495528 | FBN1 | c.4095C= (p.Asp1365=) n.2769C= c.767C= (p.Thr256=) | |
| 15 | g.48474370G>T | CA392320367 | FBN1 | c.4095C>A (p.Asp1365Glu) n.2769C>A c.767C>A (p.Thr256Lys) | |
| 15 | g.48474371T>A | CA392320368 | FBN1 | c.4094A>T (p.Asp1365Val) n.2768A>T c.766A>T (p.Thr256Ser) | |
| 15 | g.48474371T>C | CA014752 | FBN1 | c.4094A>G (p.Asp1365Gly) n.2768A>G c.766A>G (p.Thr256Ala) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474371T>G | CA392320369 | FBN1 | c.4094A>C (p.Asp1365Ala) n.2768A>C c.766A>C (p.Thr256Pro) | |
| 15 | g.48474371T= | CA2175495535 | FBN1 | c.4094A= (p.Asp1365=) n.2768A= c.766A= (p.Thr256=) | |
| 15 | g.48474371_48474377del | CA2695220634 | FBN1 | c.4088_4094del (p.Asp1363AlafsTer?) n.2762_2768del c.760_766del (p.Ile254ArgfsTer?) | |
| 15 | g.48474372C>A | CA392320370 | FBN1 | c.4093G>T (p.Asp1365Tyr) n.2767G>T c.765G>T (p.Trp255Cys) | |
| 15 | g.48474372C>G | CA392320371 | FBN1 | c.4093G>C (p.Asp1365His) n.2767G>C c.765G>C (p.Trp255Cys) | |
| 15 | g.48474372C>T | CA392320372 | FBN1 | c.4093G>A (p.Asp1365Asn) n.2767G>A c.765G>A (p.Trp255Ter) | |
| 15 | g.48474373C>A | CA490014887 | FBN1 | c.4092G>T (p.Leu1364=) n.2766G>T c.764G>T (p.Trp255Leu) | |
| 15 | g.48474373C>G | CA490014889 | FBN1 | c.4092G>C (p.Leu1364=) n.2766G>C c.764G>C (p.Trp255Ser) | |
| 15 | g.48474373C>T | CA490014886 | FBN1 | c.4092G>A (p.Leu1364=) n.2766G>A c.764G>A (p.Trp255Ter) | gnomAD v4 |
| 15 | g.48474374A>C | CA392320375 | FBN1 | c.4091T>G (p.Leu1364Arg) n.2765T>G c.763T>G (p.Trp255Gly) | |
| 15 | g.48474374A>G | CA392320374 | FBN1 | c.4091T>C (p.Leu1364Pro) n.2765T>C c.763T>C (p.Trp255Arg) | |
| 15 | g.48474374A>T | CA392320373 | FBN1 | c.4091T>A (p.Leu1364Gln) n.2765T>A c.763T>A (p.Trp255Arg) | COSMIC |
| 15 | g.48474375G>A | CA490014891 | FBN1 | c.4090C>T (p.Leu1364=) n.2764C>T c.762C>T (p.Ile254=) | |
| 15 | g.48474375G>C | CA392320376 | FBN1 | c.4090C>G (p.Leu1364Val) n.2764C>G c.762C>G (p.Ile254Met) | |
| 15 | g.48474375G>T | CA392320377 | FBN1 | c.4090C>A (p.Leu1364Met) n.2764C>A c.762C>A (p.Ile254=) | |
| 15 | g.48474376A= | CA2175495544 | FBN1 | c.4089T= (p.Asp1363=) n.2763T= c.761T= (p.Ile254=) | |
| 15 | g.48474376A>C | CA392320378 | FBN1 | c.4089T>G (p.Asp1363Glu) n.2763T>G c.761T>G (p.Ile254Ser) | |
| 15 | g.48474376A>G | CA052060 | FBN1 | c.4089T>C (p.Asp1363=) n.2763T>C c.761T>C (p.Ile254Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474376A>T | CA392320379 | FBN1 | c.4089T>A (p.Asp1363Glu) n.2763T>A c.761T>A (p.Ile254Asn) | |
| 15 | g.48474377T>A | CA392320380 | FBN1 | c.4088A>T (p.Asp1363Val) n.2762A>T c.760A>T (p.Ile254Phe) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474377T>C | CA392320382 | FBN1 | c.4088A>G (p.Asp1363Gly) n.2762A>G c.760A>G (p.Ile254Val) | |
| 15 | g.48474377T>G | CA392320381 | FBN1 | c.4088A>C (p.Asp1363Ala) n.2762A>C c.760A>C (p.Ile254Leu) | |
| 15 | g.48474377T= | CA2175495550 | FBN1 | c.4088A= (p.Asp1363=) n.2762A= c.760A= (p.Ile254=) | |
| 15 | g.48474378C>A | CA392320383 | FBN1 | c.4088-1G>T (n.4088-1G>T) n.2762-1G>T c.760-1G>T (n.760-1G>T) | |
| 15 | g.48474378C= | CA2175495561 | FBN1 | c.4088-1G= (n.4088-1G=) n.2762-1G= c.760-1G= (n.760-1G=) | |
| 15 | g.48474378C>G | CA392320385 | FBN1 | c.4088-1G>C (n.4088-1G>C) n.2762-1G>C c.760-1G>C (n.760-1G>C) | |
| 15 | g.48474378C>T | CA392320384 | FBN1 | c.4088-1G>A (n.4088-1G>A) n.2762-1G>A c.760-1G>A (n.760-1G>A) | |
| 15 | g.48474378_48474379insAGTGCACTTAATGCCATCTCCAA | CA2175495573 | FBN1 | c.4088-2_4088-1insTTGGAGATGGCATTAAGTGCACT (n.4088-2_4088-1insTTGGAGATGGCATTAAGTGCACT) n.2762-2_2762-1insTTGGAGATGGCATTAAGTGCACT c.760-2_760-1insTTGGAGATGGCATTAAGTGCACT (n.760-2_760-1insTTGGAGATGGCATTAAGTGCACT) | dbSNP |
| 15 | g.48474379T>A | CA392320386 | FBN1 | c.4088-2A>T (n.4088-2A>T) n.2762-2A>T c.760-2A>T (n.760-2A>T) | |
| 15 | g.48474379T>C | CA392320387 | FBN1 | c.4088-2A>G (n.4088-2A>G) n.2762-2A>G c.760-2A>G (n.760-2A>G) | ClinVar |
| 15 | g.48474379T>G | CA392320388 | FBN1 | c.4088-2A>C (n.4088-2A>C) n.2762-2A>C c.760-2A>C (n.760-2A>C) | ClinVar dbSNP |
| 15 | g.48474379T= | CA2175495565 | FBN1 | c.4088-2A= (n.4088-2A=) n.2762-2A= c.760-2A= (n.760-2A=) | |
| 15 | g.48474380T>C | CA617833886 | FBN1 | c.4088-3A>G (n.4088-3A>G) n.2762-3A>G c.760-3A>G (n.760-3A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474380T= | CA2175495574 | FBN1 | c.4088-3A= (n.4088-3A=) n.2762-3A= c.760-3A= (n.760-3A=) | |
| 15 | g.48474382T>C | CA052041 | FBN1 | c.4088-5A>G (n.4088-5A>G) n.2762-5A>G c.760-5A>G (n.760-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474382T>G | CA2628334480 | FBN1 | c.4088-5A>C (n.4088-5A>C) n.2762-5A>C c.760-5A>C (n.760-5A>C) | gnomAD v4 |
| 15 | g.48474382T= | CA2175495576 | FBN1 | c.4088-5A= (n.4088-5A=) n.2762-5A= c.760-5A= (n.760-5A=) | |
| 15 | g.48474382_48474384delinsTAG | CA2175495579 | FBN1 | c.4088-7_4088-5delinsCTA (n.4088-7_4088-5delinsCTA) n.2762-7_2762-5delinsCTA c.760-7_760-5delinsCTA (n.760-7_760-5delinsCTA) | |
| 15 | g.48474383A= | CA2175495582 | FBN1 | c.4088-6T= (n.4088-6T=) n.2762-6T= c.760-6T= (n.760-6T=) | |
| 15 | g.48474383A>G | CA269520464 | FBN1 | c.4088-6T>C (n.4088-6T>C) n.2762-6T>C c.760-6T>C (n.760-6T>C) | ClinVar dbSNP |
| 15 | g.48474384_48474385del | CA919548736 | FBN1 | c.4088-7_4088-6del (n.4088-7_4088-6del) n.2762-7_2762-6del c.760-7_760-6del (n.760-7_760-6del) | dbSNP gnomAD v4 |
| 15 | g.48474384G>C | CA2628334481 | FBN1 | c.4088-7C>G (n.4088-7C>G) n.2762-7C>G c.760-7C>G (n.760-7C>G) | gnomAD v4 |
| 15 | g.48474384_48474385delinsGA | CA2175495587 | FBN1 | c.4088-8_4088-7delinsTC (n.4088-8_4088-7delinsTC) n.2762-8_2762-7delinsTC c.760-8_760-7delinsTC (n.760-8_760-7delinsTC) | |
| 15 | g.48474385A= | CA2175495595 | FBN1 | c.4088-8T= (n.4088-8T=) n.2762-8T= c.760-8T= (n.760-8T=) | |
| 15 | g.48474385A>G | CA052050 | FBN1 | c.4088-8T>C (n.4088-8T>C) n.2762-8T>C c.760-8T>C (n.760-8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474389del | CA713414225 | FBN1 | c.4088-8del (n.4088-8del) n.2762-8del c.760-8del (n.760-8del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48474387A>G | CA2628334482 | FBN1 | c.4088-10T>C (n.4088-10T>C) n.2762-10T>C c.760-10T>C (n.760-10T>C) | gnomAD v4 |
| 15 | g.48474390G>A | CA2580089714 | FBN1 | c.4088-13C>T (n.4088-13C>T) n.2762-13C>T c.760-13C>T (n.760-13C>T) | ClinVar |
| 15 | g.48474390G>C | CA2628334483 | FBN1 | c.4088-13C>G (n.4088-13C>G) n.2762-13C>G c.760-13C>G (n.760-13C>G) | gnomAD v4 |
| 15 | g.48474391del | CA2575717224 | FBN1 | c.4088-13del (n.4088-13del) n.2762-13del c.760-13del (n.760-13del) | |
| 15 | g.48474391G= | CA2175495598 | FBN1 | c.4088-14C= (n.4088-14C=) n.2762-14C= c.760-14C= (n.760-14C=) | |
| 15 | g.48474391G>T | CA617833887 | FBN1 | c.4088-14C>A (n.4088-14C>A) n.2762-14C>A c.760-14C>A (n.760-14C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474392T>G | CA617833888 | FBN1 | c.4088-15A>C (n.4088-15A>C) n.2762-15A>C c.760-15A>C (n.760-15A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474392T= | CA2175495601 | FBN1 | c.4088-15A= (n.4088-15A=) n.2762-15A= c.760-15A= (n.760-15A=) | |
| 15 | g.48474393T>A | CA2628334484 | FBN1 | c.4088-16A>T (n.4088-16A>T) n.2762-16A>T c.760-16A>T (n.760-16A>T) | gnomAD v4 |
| 15 | g.48474393T>C | CA2628334485 | FBN1 | c.4088-16A>G (n.4088-16A>G) n.2762-16A>G c.760-16A>G (n.760-16A>G) | gnomAD v4 |
| 15 | g.48474394A= | CA2175495606 | FBN1 | c.4088-17T= (n.4088-17T=) n.2762-17T= c.760-17T= (n.760-17T=) | |
| 15 | g.48474394A>G | CA713414237 | FBN1 | c.4088-17T>C (n.4088-17T>C) n.2762-17T>C c.760-17T>C (n.760-17T>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474395T>C | CA656135695 | FBN1 | c.4088-18A>G (n.4088-18A>G) n.2762-18A>G c.760-18A>G (n.760-18A>G) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48474395T= | CA2175495613 | FBN1 | c.4088-18A= (n.4088-18A=) n.2762-18A= c.760-18A= (n.760-18A=) | |
| 15 | g.48474397T>A | CA269520471 | FBN1 | c.4088-20A>T (n.4088-20A>T) n.2762-20A>T c.760-20A>T (n.760-20A>T) | dbSNP |
| 15 | g.48474397T>C | CA2628334486 | FBN1 | c.4088-20A>G (n.4088-20A>G) n.2762-20A>G c.760-20A>G (n.760-20A>G) | gnomAD v4 |
| 15 | g.48474397T= | CA2175495616 | FBN1 | c.4088-20A= (n.4088-20A=) n.2762-20A= c.760-20A= (n.760-20A=) | |
| 15 | g.48474397_48474398delinsTC | CA2175495620 | FBN1 | c.4088-21_4088-20delinsGA (n.4088-21_4088-20delinsGA) n.2762-21_2762-20delinsGA c.760-21_760-20delinsGA (n.760-21_760-20delinsGA) | |
| 15 | g.48474398del | CA052019 | FBN1 | c.4088-21del (n.4088-21del) n.2762-21del c.760-21del (n.760-21del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474398C>T | CA2804072258 | FBN1 | c.4088-21G>A (n.4088-21G>A) n.2762-21G>A c.760-21G>A (n.760-21G>A) | |
| 15 | g.48474398_48474401delinsCATT | CA2175495624 | FBN1 | c.4088-24_4088-21delinsAATG (n.4088-24_4088-21delinsAATG) n.2762-24_2762-21delinsAATG c.760-24_760-21delinsAATG (n.760-24_760-21delinsAATG) | |
| 15 | g.48474399del | CA392320389 | FBN1 | c.4088-22del (n.4088-22del) n.2762-22del c.760-22del (n.760-22del) | |
| 15 | g.48474399A= | CA2175495629 | FBN1 | c.4088-22T= (n.4088-22T=) n.2762-22T= c.760-22T= (n.760-22T=) | |
| 15 | g.48474399A>C | CA2175495628 | FBN1 | c.4088-22T>G (n.4088-22T>G) n.2762-22T>G c.760-22T>G (n.760-22T>G) | dbSNP |
| 15 | g.48474403_48474405del | CA617833889 | FBN1 | c.4088-24_4088-22del (n.4088-24_4088-22del) n.2762-24_2762-22del c.760-24_760-22del (n.760-24_760-22del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474400_48474410del | CA2804072267 | FBN1 | c.4088-32_4088-22del (n.4088-32_4088-22del) n.2762-32_2762-22del c.760-32_760-22del (n.760-32_760-22del) | |
| 15 | g.48474400T>A | CA2628334487 | FBN1 | c.4088-23A>T (n.4088-23A>T) n.2762-23A>T c.760-23A>T (n.760-23A>T) | gnomAD v4 |
| 15 | g.48474400T>C | CA2575717226 | FBN1 | c.4088-23A>G (n.4088-23A>G) n.2762-23A>G c.760-23A>G (n.760-23A>G) | |
| 15 | g.48474400_48474402delinsTTA | CA2175495632 | FBN1 | c.4088-25_4088-23delinsTAA (n.4088-25_4088-23delinsTAA) n.2762-25_2762-23delinsTAA c.760-25_760-23delinsTAA (n.760-25_760-23delinsTAA) |