UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48520618_48520623delinsCTGGGA | CA2175537275 | FBN1 | c.1147+36_1147+41delinsTCCCAG (n.1147+36_1147+41delinsTCCCAG) c.636+17088_636+17093delinsTCCCAG (n.636+17088_636+17093delinsTCCCAG) | |
| 15 | g.48520625_48520629del | CA618009373 | FBN1 | c.1147+36_1147+40del (n.1147+36_1147+40del) c.636+17088_636+17092del (n.636+17088_636+17092del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520620_48520632del | CA2628336653 | FBN1 | c.1147+28_1147+40del (n.1147+28_1147+40del) c.636+17080_636+17092del (n.636+17080_636+17092del) | gnomAD v4 |
| 15 | g.48520620_48520662dup | CA2628336652 | FBN1 | c.1145_1147+40dup c.636+17050_636+17092dup (n.636+17050_636+17092dup) | gnomAD v4 |
| 15 | g.48520620G>A | CA2592751238 | FBN1 | c.1147+39C>T (n.1147+39C>T) c.636+17091C>T (n.636+17091C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520620G>T | CA2575717615 | FBN1 | c.1147+39C>A (n.1147+39C>A) c.636+17091C>A (n.636+17091C>A) | |
| 15 | g.48520621G>A | CA2175537281 | FBN1 | c.1147+38C>T (n.1147+38C>T) c.636+17090C>T (n.636+17090C>T) | dbSNP |
| 15 | g.48520621G= | CA2175537283 | FBN1 | c.1147+38C= (n.1147+38C=) c.636+17090C= (n.636+17090C=) | |
| 15 | g.48520622G>A | CA269562328 | FBN1 | c.1147+37C>T (n.1147+37C>T) c.636+17089C>T (n.636+17089C>T) | dbSNP |
| 15 | g.48520622G= | CA2175537285 | FBN1 | c.1147+37C= (n.1147+37C=) c.636+17089C= (n.636+17089C=) | |
| 15 | g.48520623A>C | CA2575717616 | FBN1 | c.1147+36T>G (n.1147+36T>G) c.636+17088T>G (n.636+17088T>G) | |
| 15 | g.48520624T>C | CA043733 | FBN1 | c.1147+35A>G (n.1147+35A>G) c.636+17087A>G (n.636+17087A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520624T= | CA2175537289 | FBN1 | c.1147+35A= (n.1147+35A=) c.636+17087A= (n.636+17087A=) | |
| 15 | g.48520627G>A | CA043729 | FBN1 | c.1147+32C>T (n.1147+32C>T) c.636+17084C>T (n.636+17084C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520627G>C | CA2175537294 | FBN1 | c.1147+32C>G (n.1147+32C>G) c.636+17084C>G (n.636+17084C>G) | dbSNP gnomAD v4 |
| 15 | g.48520627G= | CA2175537292 | FBN1 | c.1147+32C= (n.1147+32C=) c.636+17084C= (n.636+17084C=) | |
| 15 | g.48520631T>A | CA2581214176 | FBN1 | c.1147+28A>T (n.1147+28A>T) c.636+17080A>T (n.636+17080A>T) | gnomAD v4 |
| 15 | g.48520631T>C | CA043718 | FBN1 | c.1147+28A>G (n.1147+28A>G) c.636+17080A>G (n.636+17080A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.48520631T>G | CA2581214175 | FBN1 | c.1147+28A>C (n.1147+28A>C) c.636+17080A>C (n.636+17080A>C) | |
| 15 | g.48520631T= | CA2175537302 | FBN1 | c.1147+28A= (n.1147+28A=) c.636+17080A= (n.636+17080A=) | |
| 15 | g.48520633C= | CA2175537304 | FBN1 | c.1147+26G= (n.1147+26G=) c.636+17078G= (n.636+17078G=) | |
| 15 | g.48520633C>T | CA043708 | FBN1 | c.1147+26G>A (n.1147+26G>A) c.636+17078G>A (n.636+17078G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520634T>G | CA2575717618 | FBN1 | c.1147+25A>C (n.1147+25A>C) c.636+17077A>C (n.636+17077A>C) | |
| 15 | g.48520634_48520635del | CA2628336654 | FBN1 | c.1147+24_1147+25del (n.1147+24_1147+25del) c.636+17076_636+17077del (n.636+17076_636+17077del) | gnomAD v4 |
| 15 | g.48520635G>A | CA043700 | FBN1 | c.1147+24C>T (n.1147+24C>T) c.636+17076C>T (n.636+17076C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520635G>C | CA2175537310 | FBN1 | c.1147+24C>G (n.1147+24C>G) c.636+17076C>G (n.636+17076C>G) | dbSNP |
| 15 | g.48520635G= | CA2175537307 | FBN1 | c.1147+24C= (n.1147+24C=) c.636+17076C= (n.636+17076C=) | |
| 15 | g.48520636C= | CA2175537312 | FBN1 | c.1147+23G= (n.1147+23G=) c.636+17075G= (n.636+17075G=) | |
| 15 | g.48520636C>T | CA713422785 | FBN1 | c.1147+23G>A (n.1147+23G>A) c.636+17075G>A (n.636+17075G>A) | dbSNP gnomAD v4 |
| 15 | g.48520637A= | CA2175537314 | FBN1 | c.1147+22T= (n.1147+22T=) c.636+17074T= (n.636+17074T=) | |
| 15 | g.48520637A>C | CA043694 | FBN1 | c.1147+22T>G (n.1147+22T>G) c.636+17074T>G (n.636+17074T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520638G>A | CA043686 | FBN1 | c.1147+21C>T (n.1147+21C>T) c.636+17073C>T (n.636+17073C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520638G>C | CA2628336656 | FBN1 | c.1147+21C>G (n.1147+21C>G) c.636+17073C>G (n.636+17073C>G) | gnomAD v4 |
| 15 | g.48520638G= | CA2175537317 | FBN1 | c.1147+21C= (n.1147+21C=) c.636+17073C= (n.636+17073C=) | |
| 15 | g.48520638_48520646dup | CA2628336655 | FBN1 | c.1147+13_1147+21dup (n.1147+13_1147+21dup) c.636+17065_636+17073dup (n.636+17065_636+17073dup) | gnomAD v4 |
| 15 | g.48520639A= | CA2175537319 | FBN1 | c.1147+20T= (n.1147+20T=) c.636+17072T= (n.636+17072T=) | |
| 15 | g.48520639A>C | CA2628336657 | FBN1 | c.1147+20T>G (n.1147+20T>G) c.636+17072T>G (n.636+17072T>G) | gnomAD v4 |
| 15 | g.48520639A>G | CA043677 | FBN1 | c.1147+20T>C (n.1147+20T>C) c.636+17072T>C (n.636+17072T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520640T>A | CA043665 | FBN1 | c.1147+19A>T (n.1147+19A>T) c.636+17071A>T (n.636+17071A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520640T>C | CA269562379 | FBN1 | c.1147+19A>G (n.1147+19A>G) c.636+17071A>G (n.636+17071A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520640T= | CA2175537325 | FBN1 | c.1147+19A= (n.1147+19A=) c.636+17071A= (n.636+17071A=) | |
| 15 | g.48520641A>G | CA2575717621 | FBN1 | c.1147+18T>C (n.1147+18T>C) c.636+17070T>C (n.636+17070T>C) | |
| 15 | g.48520643C>A | CA2628336658 | FBN1 | c.1147+16G>T (n.1147+16G>T) c.636+17068G>T (n.636+17068G>T) | gnomAD v4 |
| 15 | g.48520643C= | CA2175537328 | FBN1 | c.1147+16G= (n.1147+16G=) c.636+17068G= (n.636+17068G=) | |
| 15 | g.48520643C>T | CA043656 | FBN1 | c.1147+16G>A (n.1147+16G>A) c.636+17068G>A (n.636+17068G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520644T>C | CA713422794 | FBN1 | c.1147+15A>G (n.1147+15A>G) c.636+17067A>G (n.636+17067A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520644T= | CA2175537330 | FBN1 | c.1147+15A= (n.1147+15A=) c.636+17067A= (n.636+17067A=) | |
| 15 | g.48520645G= | CA2175537336 | FBN1 | c.1147+14C= (n.1147+14C=) c.636+17066C= (n.636+17066C=) | |
| 15 | g.48520645G>T | CA2175537334 | FBN1 | c.1147+14C>A (n.1147+14C>A) c.636+17066C>A (n.636+17066C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520646G= | CA2175537338 | FBN1 | c.1147+13C= (n.1147+13C=) c.636+17065C= (n.636+17065C=) | |
| 15 | g.48520646G>T | CA043641 | FBN1 | c.1147+13C>A (n.1147+13C>A) c.636+17065C>A (n.636+17065C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520647A>C | CA2628336659 | FBN1 | c.1147+12T>G (n.1147+12T>G) c.636+17064T>G (n.636+17064T>G) | gnomAD v4 |
| 15 | g.48520650G>T | CA2628336660 | FBN1 | c.1147+9C>A (n.1147+9C>A) c.636+17061C>A (n.636+17061C>A) | gnomAD v4 |
| 15 | g.48520652_48520661del | CA2580089556 | FBN1 | c.1147_1147+9del c.636+17052_636+17061del (n.636+17052_636+17061del) | ClinVar |
| 15 | g.48520652C= | CA2175537341 | FBN1 | c.1147+7G= (n.1147+7G=) c.636+17059G= (n.636+17059G=) | |
| 15 | g.48520652C>G | CA2175537342 | FBN1 | c.1147+7G>C (n.1147+7G>C) c.636+17059G>C (n.636+17059G>C) | dbSNP |
| 15 | g.48520652C>T | CA043756 | FBN1 | c.1147+7G>A (n.1147+7G>A) c.636+17059G>A (n.636+17059G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520655T>C | CA1139663982 | FBN1 | c.1147+4A>G (n.1147+4A>G) c.636+17056A>G (n.636+17056A>G) | ClinVar dbSNP |
| 15 | g.48520655T= | CA2175537345 | FBN1 | c.1147+4A= (n.1147+4A=) c.636+17056A= (n.636+17056A=) | |
| 15 | g.48520656T>G | CA915946608 | FBN1 | c.1147+3A>C (n.1147+3A>C) c.636+17055A>C (n.636+17055A>C) | ClinVar dbSNP |
| 15 | g.48520656T= | CA2175537349 | FBN1 | c.1147+3A= (n.1147+3A=) c.636+17055A= (n.636+17055A=) | |
| 15 | g.48520657A>C | CA392346970 | FBN1 | c.1147+2T>G (n.1147+2T>G) c.636+17054T>G (n.636+17054T>G) | |
| 15 | g.48520657A>G | CA392346973 | FBN1 | c.1147+2T>C (n.1147+2T>C) c.636+17054T>C (n.636+17054T>C) | |
| 15 | g.48520657A>T | CA392346977 | FBN1 | c.1147+2T>A (n.1147+2T>A) c.636+17054T>A (n.636+17054T>A) | ClinVar dbSNP |
| 15 | g.48520658_48520679dup | CA2740096687 | FBN1 | c.1128_1147+2dup c.636+17033_636+17054dup (n.636+17033_636+17054dup) | ClinVar |
| 15 | g.48520658C>A | CA392346982 | FBN1 | c.1147+1G>T (n.1147+1G>T) c.636+17053G>T (n.636+17053G>T) | |
| 15 | g.48520658C>G | CA392346985 | FBN1 | c.1147+1G>C (n.1147+1G>C) c.636+17053G>C (n.636+17053G>C) | |
| 15 | g.48520658C>T | CA392346987 | FBN1 | c.1147+1G>A (n.1147+1G>A) c.636+17053G>A (n.636+17053G>A) | ClinVar dbSNP |
| 15 | g.48520659C>A | CA392346990 | FBN1 | c.1147G>T (p.Glu383Ter) c.636+17052G>T (n.636+17052G>T) | ClinVar dbSNP |
| 15 | g.48520659C= | CA2175537363 | FBN1 | c.1147G= (p.Glu383=) c.636+17052G= (n.636+17052G=) | |
| 15 | g.48520659C>G | CA392346993 | FBN1 | c.1147G>C (p.Glu383Gln) c.636+17052G>C (n.636+17052G>C) | |
| 15 | g.48520659C>T | CA011960 | FBN1 | c.1147G>A (p.Glu383Lys) c.636+17052G>A (n.636+17052G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48520660G>A | CA269562436 | FBN1 | c.1146C>T (p.Thr382=) c.636+17051C>T (n.636+17051C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48520660G>C | CA490028456 | FBN1 | c.1146C>G (p.Thr382=) c.636+17051C>G (n.636+17051C>G) | |
| 15 | g.48520660G= | CA2175537367 | FBN1 | c.1146C= (p.Thr382=) c.636+17051C= (n.636+17051C=) | |
| 15 | g.48520660G>T | CA490028457 | FBN1 | c.1146C>A (p.Thr382=) c.636+17051C>A (n.636+17051C>A) | |
| 15 | g.48520661G>A | CA392347000 | FBN1 | c.1145C>T (p.Thr382Ile) c.636+17050C>T (n.636+17050C>T) | ClinVar gnomAD v4 |
| 15 | g.48520661G>C | CA392347003 | FBN1 | c.1145C>G (p.Thr382Ser) c.636+17050C>G (n.636+17050C>G) | ClinVar dbSNP |
| 15 | g.48520661G= | CA2175537372 | FBN1 | c.1145C= (p.Thr382=) c.636+17050C= (n.636+17050C=) | |
| 15 | g.48520661G>T | CA392347006 | FBN1 | c.1145C>A (p.Thr382Asn) c.636+17050C>A (n.636+17050C>A) | |
| 15 | g.48520662T>A | CA392347010 | FBN1 | c.1144A>T (p.Thr382Ser) c.636+17049A>T (n.636+17049A>T) | |
| 15 | g.48520662T>C | CA392347013 | FBN1 | c.1144A>G (p.Thr382Ala) c.636+17049A>G (n.636+17049A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520662T>G | CA392347007 | FBN1 | c.1144A>C (p.Thr382Pro) c.636+17049A>C (n.636+17049A>C) | |
| 15 | g.48520662T= | CA2175537376 | FBN1 | c.1144A= (p.Thr382=) c.636+17049A= (n.636+17049A=) | |
| 15 | g.48520663del | CA2695220326 | FBN1 | c.1144del (p.Thr382ProfsTer13) c.636+17049del (n.636+17049del) | |
| 15 | g.48520663T>A | CA490028458 | FBN1 | c.1143A>T (p.Ala381=) c.636+17048A>T (n.636+17048A>T) | |
| 15 | g.48520663T>C | CA490028459 | FBN1 | c.1143A>G (p.Ala381=) c.636+17048A>G (n.636+17048A>G) | |
| 15 | g.48520663T>G | CA490028460 | FBN1 | c.1143A>C (p.Ala381=) c.636+17048A>C (n.636+17048A>C) | |
| 15 | g.48520664G>A | CA392347018 | FBN1 | c.1142C>T (p.Ala381Val) c.636+17047C>T (n.636+17047C>T) | |
| 15 | g.48520664G>C | CA392347016 | FBN1 | c.1142C>G (p.Ala381Gly) c.636+17047C>G (n.636+17047C>G) | |
| 15 | g.48520664G>T | CA392347017 | FBN1 | c.1142C>A (p.Ala381Glu) c.636+17047C>A (n.636+17047C>A) | |
| 15 | g.48520665C>A | CA392347020 | FBN1 | c.1141G>T (p.Ala381Ser) c.636+17046G>T (n.636+17046G>T) | |
| 15 | g.48520665C>G | CA392347024 | FBN1 | c.1141G>C (p.Ala381Pro) c.636+17046G>C (n.636+17046G>C) | |
| 15 | g.48520665C>T | CA392347027 | FBN1 | c.1141G>A (p.Ala381Thr) c.636+17046G>A (n.636+17046G>A) | |
| 15 | g.48520666T>A | CA392347031 | FBN1 | c.1140A>T (p.Arg380Ser) c.636+17045A>T (n.636+17045A>T) | |
| 15 | g.48520666T>C | CA269562439 | FBN1 | c.1140A>G (p.Arg380=) c.636+17045A>G (n.636+17045A>G) | dbSNP gnomAD v4 |
| 15 | g.48520666T>G | CA392347032 | FBN1 | c.1140A>C (p.Arg380Ser) c.636+17045A>C (n.636+17045A>C) | |
| 15 | g.48520666T= | CA2175537381 | FBN1 | c.1140A= (p.Arg380=) c.636+17045A= (n.636+17045A=) | |
| 15 | g.48520667C>A | CA392347033 | FBN1 | c.1139G>T (p.Arg380Ile) c.636+17044G>T (n.636+17044G>T) | |
| 15 | g.48520667C= | CA2175537384 | FBN1 | c.1139G= (p.Arg380=) c.636+17044G= (n.636+17044G=) | |
| 15 | g.48520667C>G | CA392347034 | FBN1 | c.1139G>C (p.Arg380Thr) c.636+17044G>C (n.636+17044G>C) | |
| 15 | g.48520667C>T | CA269562444 | FBN1 | c.1139G>A (p.Arg380Lys) c.636+17044G>A (n.636+17044G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520668T>A | CA392347038 | FBN1 | c.1138A>T (p.Arg380Ter) c.636+17043A>T (n.636+17043A>T) | ClinVar dbSNP |
| 15 | g.48520668T>C | CA392347040 | FBN1 | c.1138A>G (p.Arg380Gly) c.636+17043A>G (n.636+17043A>G) | |
| 15 | g.48520668T>G | CA490028461 | FBN1 | c.1138A>C (p.Arg380=) c.636+17043A>C (n.636+17043A>C) | |
| 15 | g.48520668T= | CA2175537388 | FBN1 | c.1138A= (p.Arg380=) c.636+17043A= (n.636+17043A=) | |
| 15 | g.48520669G>A | CA490028462 | FBN1 | c.1137C>T (p.Ile379=) c.636+17042C>T (n.636+17042C>T) | gnomAD v4 |
| 15 | g.48520669G>C | CA392347044 | FBN1 | c.1137C>G (p.Ile379Met) c.636+17042C>G (n.636+17042C>G) | |
| 15 | g.48520669G>T | CA490028463 | FBN1 | c.1137C>A (p.Ile379=) c.636+17042C>A (n.636+17042C>A) | |
| 15 | g.48520670A= | CA2175537392 | FBN1 | c.1136T= (p.Ile379=) c.636+17041T= (n.636+17041T=) | |
| 15 | g.48520670A>C | CA392347048 | FBN1 | c.1136T>G (p.Ile379Ser) c.636+17041T>G (n.636+17041T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520670A>G | CA392347052 | FBN1 | c.1136T>C (p.Ile379Thr) c.636+17041T>C (n.636+17041T>C) | |
| 15 | g.48520670A>T | CA392347054 | FBN1 | c.1136T>A (p.Ile379Asn) c.636+17041T>A (n.636+17041T>A) | |
| 15 | g.48520671T>A | CA392347059 | FBN1 | c.1135A>T (p.Ile379Phe) c.636+17040A>T (n.636+17040A>T) | |
| 15 | g.48520671T>C | CA043629 | FBN1 | c.1135A>G (p.Ile379Val) c.636+17040A>G (n.636+17040A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520671T>G | CA392347064 | FBN1 | c.1135A>C (p.Ile379Leu) c.636+17040A>C (n.636+17040A>C) | |
| 15 | g.48520671T= | CA2175537394 | FBN1 | c.1135A= (p.Ile379=) c.636+17040A= (n.636+17040A=) | |
| 15 | g.48520671_48520672delinsTG | CA2175537396 | FBN1 | c.1134_1135delinsCA (p.Pro378=) c.636+17039_636+17040delinsCA (n.636+17039_636+17040delinsCA) | |
| 15 | g.48520672G>A | CA490028466 | FBN1 | c.1134C>T (p.Pro378=) c.636+17039C>T (n.636+17039C>T) | dbSNP |
| 15 | g.48520672G>C | CA490028465 | FBN1 | c.1134C>G (p.Pro378=) c.636+17039C>G (n.636+17039C>G) | |
| 15 | g.48520672G= | CA2175537402 | FBN1 | c.1134C= (p.Pro378=) c.636+17039C= (n.636+17039C=) | |
| 15 | g.48520672G>T | CA490028464 | FBN1 | c.1134C>A (p.Pro378=) c.636+17039C>A (n.636+17039C>A) | |
| 15 | g.48520674del | CA16614832 | FBN1 | c.1134del (p.Ile379SerfsTer16) c.636+17039del (n.636+17039del) | ClinVar dbSNP |
| 15 | g.48520673G>A | CA392347066 | FBN1 | c.1133C>T (p.Pro378Leu) c.636+17038C>T (n.636+17038C>T) | gnomAD v4 |
| 15 | g.48520673G>C | CA392347069 | FBN1 | c.1133C>G (p.Pro378Arg) c.636+17038C>G (n.636+17038C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520673G= | CA2175537405 | FBN1 | c.1133C= (p.Pro378=) c.636+17038C= (n.636+17038C=) | |
| 15 | g.48520673G>T | CA392347072 | FBN1 | c.1133C>A (p.Pro378His) c.636+17038C>A (n.636+17038C>A) | |
| 15 | g.48520674G>A | CA043618 | FBN1 | c.1132C>T (p.Pro378Ser) c.636+17037C>T (n.636+17037C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520674G>C | CA392347085 | FBN1 | c.1132C>G (p.Pro378Ala) c.636+17037C>G (n.636+17037C>G) | |
| 15 | g.48520674G= | CA2175537408 | FBN1 | c.1132C= (p.Pro378=) c.636+17037C= (n.636+17037C=) | |
| 15 | g.48520674G>T | CA392347088 | FBN1 | c.1132C>A (p.Pro378Thr) c.636+17037C>A (n.636+17037C>A) | gnomAD v4 |
| 15 | g.48520675A= | CA2175537413 | FBN1 | c.1131T= (p.Cys377=) c.636+17036T= (n.636+17036T=) | |
| 15 | g.48520675A>C | CA392347095 | FBN1 | c.1131T>G (p.Cys377Trp) c.636+17036T>G (n.636+17036T>G) | |
| 15 | g.48520675A>G | CA043606 | FBN1 | c.1131T>C (p.Cys377=) c.636+17036T>C (n.636+17036T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520675A>T | CA392347092 | FBN1 | c.1131T>A (p.Cys377Ter) c.636+17036T>A (n.636+17036T>A) | |
| 15 | g.48520676C>A | CA392347100 | FBN1 | c.1130G>T (p.Cys377Phe) c.636+17035G>T (n.636+17035G>T) | |
| 15 | g.48520676C= | CA2175537419 | FBN1 | c.1130G= (p.Cys377=) c.636+17035G= (n.636+17035G=) | |
| 15 | g.48520676C>G | CA392347103 | FBN1 | c.1130G>C (p.Cys377Ser) c.636+17035G>C (n.636+17035G>C) | |
| 15 | g.48520676C>T | CA392347105 | FBN1 | c.1130G>A (p.Cys377Tyr) c.636+17035G>A (n.636+17035G>A) | ClinVar dbSNP |
| 15 | g.48520677A= | CA2175537423 | FBN1 | c.1129T= (p.Cys377=) c.636+17034T= (n.636+17034T=) | |
| 15 | g.48520677A>C | CA392347112 | FBN1 | c.1129T>G (p.Cys377Gly) c.636+17034T>G (n.636+17034T>G) | ClinVar |
| 15 | g.48520677A>G | CA10587868 | FBN1 | c.1129T>C (p.Cys377Arg) c.636+17034T>C (n.636+17034T>C) | ClinVar dbSNP |
| 15 | g.48520677A>T | CA392347116 | FBN1 | c.1129T>A (p.Cys377Ser) c.636+17034T>A (n.636+17034T>A) | |
| 15 | g.48520678C>A | CA392347122 | FBN1 | c.1128G>T (p.Met376Ile) c.636+17033G>T (n.636+17033G>T) | ClinVar |
| 15 | g.48520678C>G | CA392347125 | FBN1 | c.1128G>C (p.Met376Ile) c.636+17033G>C (n.636+17033G>C) | |
| 15 | g.48520678C>T | CA392347129 | FBN1 | c.1128G>A (p.Met376Ile) c.636+17033G>A (n.636+17033G>A) | |
| 15 | g.48520679A>C | CA392347133 | FBN1 | c.1127T>G (p.Met376Arg) c.636+17032T>G (n.636+17032T>G) | |
| 15 | g.48520679A>G | CA392347136 | FBN1 | c.1127T>C (p.Met376Thr) c.636+17032T>C (n.636+17032T>C) | |
| 15 | g.48520679A>T | CA392347139 | FBN1 | c.1127T>A (p.Met376Lys) c.636+17032T>A (n.636+17032T>A) | |
| 15 | g.48520680T>A | CA392347148 | FBN1 | c.1126A>T (p.Met376Leu) c.636+17031A>T (n.636+17031A>T) | |
| 15 | g.48520680T>C | CA392347159 | FBN1 | c.1126A>G (p.Met376Val) c.636+17031A>G (n.636+17031A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520680T>G | CA392347144 | FBN1 | c.1126A>C (p.Met376Leu) c.636+17031A>C (n.636+17031A>C) | |
| 15 | g.48520680T= | CA2175537428 | FBN1 | c.1126A= (p.Met376=) c.636+17031A= (n.636+17031A=) | |
| 15 | g.48520681C>A | CA392347160 | FBN1 | c.1125G>T (p.Glu375Asp) c.636+17030G>T (n.636+17030G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520681C= | CA2175537433 | FBN1 | c.1125G= (p.Glu375=) c.636+17030G= (n.636+17030G=) | |
| 15 | g.48520681C>G | CA392347162 | FBN1 | c.1125G>C (p.Glu375Asp) c.636+17030G>C (n.636+17030G>C) | |
| 15 | g.48520681C>T | CA490028467 | FBN1 | c.1125G>A (p.Glu375=) c.636+17030G>A (n.636+17030G>A) | COSMIC |
| 15 | g.48520682T>A | CA392347164 | FBN1 | c.1124A>T (p.Glu375Val) c.636+17029A>T (n.636+17029A>T) | |
| 15 | g.48520682T>C | CA392347165 | FBN1 | c.1124A>G (p.Glu375Gly) c.636+17029A>G (n.636+17029A>G) | |
| 15 | g.48520682T>G | CA392347166 | FBN1 | c.1124A>C (p.Glu375Ala) c.636+17029A>C (n.636+17029A>C) | |
| 15 | g.48520683C>A | CA392347175 | FBN1 | c.1123G>T (p.Glu375Ter) c.636+17028G>T (n.636+17028G>T) | |
| 15 | g.48520683C>G | CA392347173 | FBN1 | c.1123G>C (p.Glu375Gln) c.636+17028G>C (n.636+17028G>C) | gnomAD v4 |
| 15 | g.48520683C>T | CA392347170 | FBN1 | c.1123G>A (p.Glu375Lys) c.636+17028G>A (n.636+17028G>A) | |
| 15 | g.48520684del | CA2695220328 | FBN1 | c.1122del (p.Glu375ArgfsTer20) c.636+17027del (n.636+17027del) | |
| 15 | g.48520684A= | CA2175537436 | FBN1 | c.1122T= (p.Pro374=) c.636+17027T= (n.636+17027T=) | |
| 15 | g.48520684A>C | CA490028468 | FBN1 | c.1122T>G (p.Pro374=) c.636+17027T>G (n.636+17027T>G) | ClinVar dbSNP |
| 15 | g.48520684A>G | CA490028469 | FBN1 | c.1122T>C (p.Pro374=) c.636+17027T>C (n.636+17027T>C) | |
| 15 | g.48520684A>T | CA490028470 | FBN1 | c.1122T>A (p.Pro374=) c.636+17027T>A (n.636+17027T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520685G>A | CA392347180 | FBN1 | c.1121C>T (p.Pro374Leu) c.636+17026C>T (n.636+17026C>T) | |
| 15 | g.48520685G>C | CA392347182 | FBN1 | c.1121C>G (p.Pro374Arg) c.636+17026C>G (n.636+17026C>G) | |
| 15 | g.48520685G>T | CA392347185 | FBN1 | c.1121C>A (p.Pro374His) c.636+17026C>A (n.636+17026C>A) | |
| 15 | g.48520688dup | CA913187715 | FBN1 | c.1121dup (p.Glu375Ter) c.636+17026dup (n.636+17026dup) | |
| 15 | g.48520686G>A | CA392347189 | FBN1 | c.1120C>T (p.Pro374Ser) c.636+17025C>T (n.636+17025C>T) | ClinVar |
| 15 | g.48520686G>C | CA392347192 | FBN1 | c.1120C>G (p.Pro374Ala) c.636+17025C>G (n.636+17025C>G) | |
| 15 | g.48520686G>T | CA392347195 | FBN1 | c.1120C>A (p.Pro374Thr) c.636+17025C>A (n.636+17025C>A) | |
| 15 | g.48520687G>A | CA490028471 | FBN1 | c.1119C>T (p.Ala373=) c.636+17024C>T (n.636+17024C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520687G>C | CA490028472 | FBN1 | c.1119C>G (p.Ala373=) c.636+17024C>G (n.636+17024C>G) | |
| 15 | g.48520687G= | CA2175537440 | FBN1 | c.1119C= (p.Ala373=) c.636+17024C= (n.636+17024C=) | |
| 15 | g.48520687G>T | CA043590 | FBN1 | c.1119C>A (p.Ala373=) c.636+17024C>A (n.636+17024C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520688G>A | CA043580 | FBN1 | c.1118C>T (p.Ala373Val) c.636+17023C>T (n.636+17023C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520688G>C | CA392347198 | FBN1 | c.1118C>G (p.Ala373Gly) c.636+17023C>G (n.636+17023C>G) | gnomAD v4 |
| 15 | g.48520688G= | CA2175537446 | FBN1 | c.1118C= (p.Ala373=) c.636+17023C= (n.636+17023C=) | |
| 15 | g.48520688G>T | CA392347196 | FBN1 | c.1118C>A (p.Ala373Asp) c.636+17023C>A (n.636+17023C>A) | ClinVar |
| 15 | g.48520689del | CA2697549058 | FBN1 | c.1117del (p.Ala373ProfsTer22) c.636+17022del (n.636+17022del) | ClinVar |
| 15 | g.48520689C>A | CA392347216 | FBN1 | c.1117G>T (p.Ala373Ser) c.636+17022G>T (n.636+17022G>T) | dbSNP |
| 15 | g.48520689C= | CA2175537451 | FBN1 | c.1117G= (p.Ala373=) c.636+17022G= (n.636+17022G=) | |
| 15 | g.48520689C>G | CA392347215 | FBN1 | c.1117G>C (p.Ala373Pro) c.636+17022G>C (n.636+17022G>C) | |
| 15 | g.48520689C>T | CA043561 | FBN1 | c.1117G>A (p.Ala373Thr) c.636+17022G>A (n.636+17022G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520690G>A | CA043548 | FBN1 | c.1116C>T (p.Val372=) c.636+17021C>T (n.636+17021C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520690G>C | CA490028474 | FBN1 | c.1116C>G (p.Val372=) c.636+17021C>G (n.636+17021C>G) | |
| 15 | g.48520690G= | CA2175537461 | FBN1 | c.1116C= (p.Val372=) c.636+17021C= (n.636+17021C=) | |
| 15 | g.48520690G>T | CA490028473 | FBN1 | c.1116C>A (p.Val372=) c.636+17021C>A (n.636+17021C>A) | |
| 15 | g.48520691A>C | CA392347222 | FBN1 | c.1115T>G (p.Val372Gly) c.636+17020T>G (n.636+17020T>G) | |
| 15 | g.48520691A>G | CA392347226 | FBN1 | c.1115T>C (p.Val372Ala) c.636+17020T>C (n.636+17020T>C) | gnomAD v4 |
| 15 | g.48520691A>T | CA392347229 | FBN1 | c.1115T>A (p.Val372Asp) c.636+17020T>A (n.636+17020T>A) | |
| 15 | g.48520692C>A | CA392347232 | FBN1 | c.1114G>T (p.Val372Phe) c.636+17019G>T (n.636+17019G>T) | |
| 15 | g.48520692C>G | CA392347234 | FBN1 | c.1114G>C (p.Val372Leu) c.636+17019G>C (n.636+17019G>C) | ClinVar dbSNP |
| 15 | g.48520692C>T | CA392347237 | FBN1 | c.1114G>A (p.Val372Ile) c.636+17019G>A (n.636+17019G>A) | |
| 15 | g.48520693A>C | CA490028475 | FBN1 | c.1113T>G (p.Thr371=) c.636+17018T>G (n.636+17018T>G) | |
| 15 | g.48520693A>G | CA490028476 | FBN1 | c.1113T>C (p.Thr371=) c.636+17018T>C (n.636+17018T>C) | ClinVar gnomAD v4 |
| 15 | g.48520693A>T | CA490028477 | FBN1 | c.1113T>A (p.Thr371=) c.636+17018T>A (n.636+17018T>A) | |
| 15 | g.48520694G>A | CA392347241 | FBN1 | c.1112C>T (p.Thr371Ile) c.636+17017C>T (n.636+17017C>T) | |
| 15 | g.48520694G>C | CA392347246 | FBN1 | c.1112C>G (p.Thr371Ser) c.636+17017C>G (n.636+17017C>G) | |
| 15 | g.48520694G>T | CA392347243 | FBN1 | c.1112C>A (p.Thr371Asn) c.636+17017C>A (n.636+17017C>A) | gnomAD v4 |
| 15 | g.48520695T>A | CA392347252 | FBN1 | c.1111A>T (p.Thr371Ser) c.636+17016A>T (n.636+17016A>T) | |
| 15 | g.48520695T>C | CA392347255 | FBN1 | c.1111A>G (p.Thr371Ala) c.636+17016A>G (n.636+17016A>G) | |
| 15 | g.48520695T>G | CA392347257 | FBN1 | c.1111A>C (p.Thr371Pro) c.636+17016A>C (n.636+17016A>C) | |
| 15 | g.48520696G>A | CA043533 | FBN1 | c.1110C>T (p.Val370=) c.636+17015C>T (n.636+17015C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520696G>C | CA490028479 | FBN1 | c.1110C>G (p.Val370=) c.636+17015C>G (n.636+17015C>G) | |
| 15 | g.48520696G= | CA2175537466 | FBN1 | c.1110C= (p.Val370=) c.636+17015C= (n.636+17015C=) | |
| 15 | g.48520696G>T | CA490028478 | FBN1 | c.1110C>A (p.Val370=) c.636+17015C>A (n.636+17015C>A) | |
| 15 | g.48520696_48520697insC | CA2695220330 | FBN1 | c.1109_1110insG (p.Thr371HisfsTer5) c.636+17014_636+17015insG (n.636+17014_636+17015insG) | |
| 15 | g.48520697A>C | CA392347262 | FBN1 | c.1109T>G (p.Val370Gly) c.636+17014T>G (n.636+17014T>G) | |
| 15 | g.48520697A>G | CA392347269 | FBN1 | c.1109T>C (p.Val370Ala) c.636+17014T>C (n.636+17014T>C) | |
| 15 | g.48520697A>T | CA392347265 | FBN1 | c.1109T>A (p.Val370Asp) c.636+17014T>A (n.636+17014T>A) | gnomAD v4 |
| 15 | g.48520698C>A | CA392347275 | FBN1 | c.1108G>T (p.Val370Phe) c.636+17013G>T (n.636+17013G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48520698C= | CA2175537470 | FBN1 | c.1108G= (p.Val370=) c.636+17013G= (n.636+17013G=) | |
| 15 | g.48520698C>G | CA392347276 | FBN1 | c.1108G>C (p.Val370Leu) c.636+17013G>C (n.636+17013G>C) | |
| 15 | g.48520698C>T | CA392347279 | FBN1 | c.1108G>A (p.Val370Ile) c.636+17013G>A (n.636+17013G>A) | |
| 15 | g.48520699C>A | CA490028480 | FBN1 | c.1107G>T (p.Gly369=) c.636+17012G>T (n.636+17012G>T) | |
| 15 | g.48520699C= | CA2175537473 | FBN1 | c.1107G= (p.Gly369=) c.636+17012G= (n.636+17012G=) | |
| 15 | g.48520699C>G | CA490028481 | FBN1 | c.1107G>C (p.Gly369=) c.636+17012G>C (n.636+17012G>C) | |
| 15 | g.48520699C>T | CA043518 | FBN1 | c.1107G>A (p.Gly369=) c.636+17012G>A (n.636+17012G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48520700C>A | CA392347284 | FBN1 | c.1106G>T (p.Gly369Val) c.636+17011G>T (n.636+17011G>T) | |
| 15 | g.48520700C>G | CA392347294 | FBN1 | c.1106G>C (p.Gly369Ala) c.636+17011G>C (n.636+17011G>C) | ClinVar |
| 15 | g.48520700C>T | CA392347295 | FBN1 | c.1106G>A (p.Gly369Glu) c.636+17011G>A (n.636+17011G>A) | |
| 15 | g.48520701C>A | CA392347298 | FBN1 | c.1105G>T (p.Gly369Trp) c.636+17010G>T (n.636+17010G>T) | |
| 15 | g.48520701C= | CA2175537477 | FBN1 | c.1105G= (p.Gly369=) c.636+17010G= (n.636+17010G=) | |
| 15 | g.48520701C>G | CA392347301 | FBN1 | c.1105G>C (p.Gly369Arg) c.636+17010G>C (n.636+17010G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520701C>T | CA392347304 | FBN1 | c.1105G>A (p.Gly369Arg) c.636+17010G>A (n.636+17010G>A) | gnomAD v4 |
| 15 | g.48520702T>A | CA490028482 | FBN1 | c.1104A>T (p.Pro368=) c.636+17009A>T (n.636+17009A>T) | gnomAD v4 |
| 15 | g.48520702T>C | CA490028483 | FBN1 | c.1104A>G (p.Pro368=) c.636+17009A>G (n.636+17009A>G) | |
| 15 | g.48520702T>G | CA490028484 | FBN1 | c.1104A>C (p.Pro368=) c.636+17009A>C (n.636+17009A>C) | |
| 15 | g.48520703G>A | CA392347314 | FBN1 | c.1103C>T (p.Pro368Leu) c.636+17008C>T (n.636+17008C>T) | |
| 15 | g.48520703G>C | CA392347310 | FBN1 | c.1103C>G (p.Pro368Arg) c.636+17008C>G (n.636+17008C>G) | |
| 15 | g.48520703G>T | CA392347309 | FBN1 | c.1103C>A (p.Pro368Gln) c.636+17008C>A (n.636+17008C>A) | |
| 15 | g.48520704G>A | CA392347318 | FBN1 | c.1102C>T (p.Pro368Ser) c.636+17007C>T (n.636+17007C>T) | gnomAD v4 |
| 15 | g.48520704G>C | CA392347322 | FBN1 | c.1102C>G (p.Pro368Ala) c.636+17007C>G (n.636+17007C>G) | |
| 15 | g.48520704G>T | CA392347325 | FBN1 | c.1102C>A (p.Pro368Thr) c.636+17007C>A (n.636+17007C>A) | |
| 15 | g.48520705A>C | CA490028487 | FBN1 | c.1101T>G (p.Ser367=) c.636+17006T>G (n.636+17006T>G) | gnomAD v4 |
| 15 | g.48520705A>G | CA490028485 | FBN1 | c.1101T>C (p.Ser367=) c.636+17006T>C (n.636+17006T>C) | |
| 15 | g.48520705A>T | CA490028486 | FBN1 | c.1101T>A (p.Ser367=) c.636+17006T>A (n.636+17006T>A) | |
| 15 | g.48520706G>A | CA392347328 | FBN1 | c.1100C>T (p.Ser367Phe) c.636+17005C>T (n.636+17005C>T) | ClinVar dbSNP |
| 15 | g.48520706G>C | CA392347329 | FBN1 | c.1100C>G (p.Ser367Cys) c.636+17005C>G (n.636+17005C>G) | |
| 15 | g.48520706G= | CA2175537480 | FBN1 | c.1100C= (p.Ser367=) c.636+17005C= (n.636+17005C=) | |
| 15 | g.48520706G>T | CA392347332 | FBN1 | c.1100C>A (p.Ser367Tyr) c.636+17005C>A (n.636+17005C>A) | |
| 15 | g.48520707A= | CA2175537484 | FBN1 | c.1099T= (p.Ser367=) c.636+17004T= (n.636+17004T=) | |
| 15 | g.48520707A>C | CA392347337 | FBN1 | c.1099T>G (p.Ser367Ala) c.636+17004T>G (n.636+17004T>G) | |
| 15 | g.48520707A>G | CA392347340 | FBN1 | c.1099T>C (p.Ser367Pro) c.636+17004T>C (n.636+17004T>C) | ClinVar dbSNP |
| 15 | g.48520707A>T | CA392347346 | FBN1 | c.1099T>A (p.Ser367Thr) c.636+17004T>A (n.636+17004T>A) | |
| 15 | g.48520708C>A | CA392347350 | FBN1 | c.1098G>T (p.Trp366Cys) c.636+17003G>T (n.636+17003G>T) | ClinVar dbSNP |
| 15 | g.48520708C= | CA2175537493 | FBN1 | c.1098G= (p.Trp366=) c.636+17003G= (n.636+17003G=) | |
| 15 | g.48520708C>G | CA392347353 | FBN1 | c.1098G>C (p.Trp366Cys) c.636+17003G>C (n.636+17003G>C) | ClinVar dbSNP |
| 15 | g.48520708C>T | CA392347355 | FBN1 | c.1098G>A (p.Trp366Ter) c.636+17003G>A (n.636+17003G>A) | |
| 15 | g.48520709C>A | CA392347363 | FBN1 | c.1097G>T (p.Trp366Leu) c.636+17002G>T (n.636+17002G>T) | gnomAD v4 |
| 15 | g.48520709C>G | CA392347366 | FBN1 | c.1097G>C (p.Trp366Ser) c.636+17002G>C (n.636+17002G>C) | ClinVar |
| 15 | g.48520709C>T | CA392347360 | FBN1 | c.1097G>A (p.Trp366Ter) c.636+17002G>A (n.636+17002G>A) | |
| 15 | g.48520710A>C | CA392347370 | FBN1 | c.1096T>G (p.Trp366Gly) c.636+17001T>G (n.636+17001T>G) | |
| 15 | g.48520710A>G | CA392347382 | FBN1 | c.1096T>C (p.Trp366Arg) c.636+17001T>C (n.636+17001T>C) | ClinVar dbSNP |
| 15 | g.48520710A>T | CA392347385 | FBN1 | c.1096T>A (p.Trp366Arg) c.636+17001T>A (n.636+17001T>A) | |
| 15 | g.48520711G>A | CA490028488 | FBN1 | c.1095C>T (p.Cys365=) c.636+17000C>T (n.636+17000C>T) | gnomAD v4 |
| 15 | g.48520711G>C | CA392347389 | FBN1 | c.1095C>G (p.Cys365Trp) c.636+17000C>G (n.636+17000C>G) | |
| 15 | g.48520711G= | CA2175537501 | FBN1 | c.1095C= (p.Cys365=) c.636+17000C= (n.636+17000C=) | |
| 15 | g.48520711G>T | CA011950 | FBN1 | c.1095C>A (p.Cys365Ter) c.636+17000C>A (n.636+17000C>A) | ClinVar dbSNP |
| 15 | g.48520712C>A | CA392347401 | FBN1 | c.1094G>T (p.Cys365Phe) c.636+16999G>T (n.636+16999G>T) | |
| 15 | g.48520712C>G | CA392347395 | FBN1 | c.1094G>C (p.Cys365Ser) c.636+16999G>C (n.636+16999G>C) | |
| 15 | g.48520712C>T | CA392347398 | FBN1 | c.1094G>A (p.Cys365Tyr) c.636+16999G>A (n.636+16999G>A) | |
| 15 | g.48520713_48520715dup | CA2695220331 | FBN1 | c.1092_1094dup (p.Cys365Ter) c.636+16997_636+16999dup (n.636+16997_636+16999dup) | |
| 15 | g.48520713A>C | CA392347405 | FBN1 | c.1093T>G (p.Cys365Gly) c.636+16998T>G (n.636+16998T>G) | |
| 15 | g.48520713A>G | CA392347408 | FBN1 | c.1093T>C (p.Cys365Arg) c.636+16998T>C (n.636+16998T>C) | |
| 15 | g.48520713A>T | CA392347410 | FBN1 | c.1093T>A (p.Cys365Ser) c.636+16998T>A (n.636+16998T>A) | |
| 15 | g.48520714T>A | CA490028489 | FBN1 | c.1092A>T (p.Arg364=) c.636+16997A>T (n.636+16997A>T) | |
| 15 | g.48520714T>C | CA490028490 | FBN1 | c.1092A>G (p.Arg364=) c.636+16997A>G (n.636+16997A>G) | |
| 15 | g.48520714T>G | CA490028491 | FBN1 | c.1092A>C (p.Arg364=) c.636+16997A>C (n.636+16997A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520714T= | CA2175537506 | FBN1 | c.1092A= (p.Arg364=) c.636+16997A= (n.636+16997A=) | |
| 15 | g.48520715C>A | CA392347416 | FBN1 | c.1091G>T (p.Arg364Leu) c.636+16996G>T (n.636+16996G>T) | |
| 15 | g.48520715C= | CA2175537513 | FBN1 | c.1091G= (p.Arg364=) c.636+16996G= (n.636+16996G=) | |
| 15 | g.48520715C>G | CA011939 | FBN1 | c.1091G>C (p.Arg364Pro) c.636+16996G>C (n.636+16996G>C) | ClinVar dbSNP |
| 15 | g.48520715C>T | CA043494 | FBN1 | c.1091G>A (p.Arg364Gln) c.636+16996G>A (n.636+16996G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520715_48520716delinsCG | CA2175537519 | FBN1 | c.1090_1091delinsCG (p.Arg364=) c.636+16995_636+16996delinsCG (n.636+16995_636+16996delinsCG) | |
| 15 | g.48520716G>A | CA011930 | FBN1 | c.1090C>T (p.Arg364Ter) c.636+16995C>T (n.636+16995C>T) | ClinVar dbSNP |
| 15 | g.48520716G>C | CA392347425 | FBN1 | c.1090C>G (p.Arg364Gly) c.636+16995C>G (n.636+16995C>G) | ClinVar dbSNP |
| 15 | g.48520716G= | CA2175537529 | FBN1 | c.1090C= (p.Arg364=) c.636+16995C= (n.636+16995C=) | |
| 15 | g.48520716G>T | CA490028492 | FBN1 | c.1090C>A (p.Arg364=) c.636+16995C>A (n.636+16995C>A) | |
| 15 | g.48520717del | CA1139663983 | FBN1 | c.1090del (p.Arg364AspfsTer?) c.636+16995del (n.636+16995del) | ClinVar dbSNP |
| 15 | g.48520717G>A | CA490028493 | FBN1 | c.1089C>T (p.Gly363=) c.636+16994C>T (n.636+16994C>T) | gnomAD v4 |
| 15 | g.48520717G>C | CA490028495 | FBN1 | c.1089C>G (p.Gly363=) c.636+16994C>G (n.636+16994C>G) | |
| 15 | g.48520717G= | CA2175537537 | FBN1 | c.1089C= (p.Gly363=) c.636+16994C= (n.636+16994C=) | |
| 15 | g.48520717G>T | CA490028494 | FBN1 | c.1089C>A (p.Gly363=) c.636+16994C>A (n.636+16994C>A) | ClinVar dbSNP |
| 15 | g.48520717_48520718delinsGC | CA2175537535 | FBN1 | c.1088_1089delinsGC (p.Gly363=) c.636+16993_636+16994delinsGC (n.636+16993_636+16994delinsGC) | |
| 15 | g.48520719_48520733del | CA2580089579 | FBN1 | c.1075_1089del (p.Cys359_Gly363del) c.636+16980_636+16994del (n.636+16980_636+16994del) | ClinVar |
| 15 | g.48520718C>A | CA392347430 | FBN1 | c.1088G>T (p.Gly363Val) c.636+16993G>T (n.636+16993G>T) | |
| 15 | g.48520718C>G | CA392347431 | FBN1 | c.1088G>C (p.Gly363Ala) c.636+16993G>C (n.636+16993G>C) | |
| 15 | g.48520718C>T | CA392347434 | FBN1 | c.1088G>A (p.Gly363Asp) c.636+16993G>A (n.636+16993G>A) | gnomAD v4 |
| 15 | g.48520719del | CA658683888 | FBN1 | c.1088del (p.Gly363AlafsTer?) c.636+16993del (n.636+16993del) | ClinVar dbSNP |
| 15 | g.48520719C>A | CA392347437 | FBN1 | c.1087G>T (p.Gly363Cys) c.636+16992G>T (n.636+16992G>T) | |
| 15 | g.48520719C= | CA2175537542 | FBN1 | c.1087G= (p.Gly363=) c.636+16992G= (n.636+16992G=) | |
| 15 | g.48520719C>G | CA392347441 | FBN1 | c.1087G>C (p.Gly363Arg) c.636+16992G>C (n.636+16992G>C) | gnomAD v4 |
| 15 | g.48520719C>T | CA043483 | FBN1 | c.1087G>A (p.Gly363Ser) c.636+16992G>A (n.636+16992G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48520720G>A | CA490028496 | FBN1 | c.1086C>T (p.Ala362=) c.636+16991C>T (n.636+16991C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48520720G>C | CA490028497 | FBN1 | c.1086C>G (p.Ala362=) c.636+16991C>G (n.636+16991C>G) | |
| 15 | g.48520720G= | CA2175537547 | FBN1 | c.1086C= (p.Ala362=) c.636+16991C= (n.636+16991C=) | |
| 15 | g.48520720G>T | CA490028498 | FBN1 | c.1086C>A (p.Ala362=) c.636+16991C>A (n.636+16991C>A) | |
| 15 | g.48520721_48520732del | CA2695220333 | FBN1 | c.1075_1086del (p.Cys359_Ala362del) c.636+16980_636+16991del (n.636+16980_636+16991del) |