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.48534194A= | CA2175536924 | FBN1 | c.748T= (p.Cys250=) c.636+3517T= (n.636+3517T=) | |
| 15 | g.48534194A>C | CA392352824 | FBN1 | c.748T>G (p.Cys250Gly) c.636+3517T>G (n.636+3517T>G) | |
| 15 | g.48534194A>G | CA392352827 | FBN1 | c.748T>C (p.Cys250Arg) c.636+3517T>C (n.636+3517T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534194A>T | CA392352829 | FBN1 | c.748T>A (p.Cys250Ser) c.636+3517T>A (n.636+3517T>A) | |
| 15 | g.48534195T>A | CA392352833 | FBN1 | c.747A>T (p.Glu249Asp) c.636+3516A>T (n.636+3516A>T) | |
| 15 | g.48534195T>C | CA490028709 | FBN1 | c.747A>G (p.Glu249=) c.636+3516A>G (n.636+3516A>G) | |
| 15 | g.48534195T>G | CA392352834 | FBN1 | c.747A>C (p.Glu249Asp) c.636+3516A>C (n.636+3516A>C) | |
| 15 | g.48534196T>A | CA392352838 | FBN1 | c.746A>T (p.Glu249Val) c.636+3515A>T (n.636+3515A>T) | |
| 15 | g.48534196T>C | CA392352836 | FBN1 | c.746A>G (p.Glu249Gly) c.636+3515A>G (n.636+3515A>G) | |
| 15 | g.48534196T>G | CA392352835 | FBN1 | c.746A>C (p.Glu249Ala) c.636+3515A>C (n.636+3515A>C) | |
| 15 | g.48534198_48534200dup | CA2592751144 | FBN1 | c.744_746dup (p.Asp248_Glu249insAsp) c.636+3513_636+3515dup (n.636+3513_636+3515dup) | gnomAD v3 gnomAD v4 |
| 15 | g.48534197C>A | CA392352840 | FBN1 | c.745G>T (p.Glu249Ter) c.636+3514G>T (n.636+3514G>T) | gnomAD v4 |
| 15 | g.48534197C>G | CA392352844 | FBN1 | c.745G>C (p.Glu249Gln) c.636+3514G>C (n.636+3514G>C) | |
| 15 | g.48534197C>T | CA392352846 | FBN1 | c.745G>A (p.Glu249Lys) c.636+3514G>A (n.636+3514G>A) | |
| 15 | g.48534197dup | CA2695220420 | FBN1 | c.745dup (p.Glu249GlyfsTer16) c.636+3514dup (n.636+3514dup) | |
| 15 | g.48534198A= | CA2175536925 | FBN1 | c.744T= (p.Asp248=) c.636+3513T= (n.636+3513T=) | |
| 15 | g.48534198A>C | CA392352848 | FBN1 | c.744T>G (p.Asp248Glu) c.636+3513T>G (n.636+3513T>G) | |
| 15 | g.48534198A>G | CA058558 | FBN1 | c.744T>C (p.Asp248=) c.636+3513T>C (n.636+3513T>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.48534198A>T | CA392352851 | FBN1 | c.744T>A (p.Asp248Glu) c.636+3513T>A (n.636+3513T>A) | |
| 15 | g.48534199T>A | CA392352854 | FBN1 | c.743A>T (p.Asp248Val) c.636+3512A>T (n.636+3512A>T) | gnomAD v4 |
| 15 | g.48534199T>C | CA392352857 | FBN1 | c.743A>G (p.Asp248Gly) c.636+3512A>G (n.636+3512A>G) | dbSNP gnomAD v4 |
| 15 | g.48534199T>G | CA392352859 | FBN1 | c.743A>C (p.Asp248Ala) c.636+3512A>C (n.636+3512A>C) | |
| 15 | g.48534199T= | CA2175536926 | FBN1 | c.743A= (p.Asp248=) c.636+3512A= (n.636+3512A=) | |
| 15 | g.48534200C>A | CA392352862 | FBN1 | c.742G>T (p.Asp248Tyr) c.636+3511G>T (n.636+3511G>T) | gnomAD v4 |
| 15 | g.48534200C= | CA2175536927 | FBN1 | c.742G= (p.Asp248=) c.636+3511G= (n.636+3511G=) | |
| 15 | g.48534200C>G | CA392352866 | FBN1 | c.742G>C (p.Asp248His) c.636+3511G>C (n.636+3511G>C) | |
| 15 | g.48534200C>T | CA392352869 | FBN1 | c.742G>A (p.Asp248Asn) c.636+3511G>A (n.636+3511G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534201del | CA2804072040 | FBN1 | c.742del (p.Asp248MetfsTer?) c.636+3511del (n.636+3511del) | |
| 15 | g.48534201C>A | CA490028711 | FBN1 | c.741G>T (p.Val247=) c.636+3510G>T (n.636+3510G>T) | |
| 15 | g.48534201C= | CA2175536928 | FBN1 | c.741G= (p.Val247=) c.636+3510G= (n.636+3510G=) | |
| 15 | g.48534201C>G | CA490028710 | FBN1 | c.741G>C (p.Val247=) c.636+3510G>C (n.636+3510G>C) | |
| 15 | g.48534201C>T | CA058547 | FBN1 | c.741G>A (p.Val247=) c.636+3510G>A (n.636+3510G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534201_48534222delinsCACATCTGTCAGATTACAGAAG | CA2175536929 | FBN1 | c.737-17_741delinsCTTCTGTAATCTGACAGATGTG c.636+3489_636+3510delinsCTTCTGTAATCTGACAGATGTG (n.636+3489_636+3510delinsCTTCTGTAATCTGACAGATGTG) | |
| 15 | g.48534202A= | CA2175536930 | FBN1 | c.740T= (p.Val247=) c.636+3509T= (n.636+3509T=) | |
| 15 | g.48534202A>C | CA058528 | FBN1 | c.740T>G (p.Val247Gly) c.636+3509T>G (n.636+3509T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534202A>G | CA392352877 | FBN1 | c.740T>C (p.Val247Ala) c.636+3509T>C (n.636+3509T>C) | |
| 15 | g.48534202A>T | CA392352881 | FBN1 | c.740T>A (p.Val247Glu) c.636+3509T>A (n.636+3509T>A) | |
| 15 | g.48534205_48534225del | CA915946611 | FBN1 | c.737-17_740del c.636+3489_636+3509del (n.636+3489_636+3509del) | ClinVar dbSNP |
| 15 | g.48534203C>A | CA392352887 | FBN1 | c.739G>T (p.Val247Leu) c.636+3508G>T (n.636+3508G>T) | gnomAD v4 |
| 15 | g.48534203C= | CA2175536931 | FBN1 | c.739G= (p.Val247=) c.636+3508G= (n.636+3508G=) | |
| 15 | g.48534203C>G | CA392352889 | FBN1 | c.739G>C (p.Val247Leu) c.636+3508G>C (n.636+3508G>C) | |
| 15 | g.48534203C>T | CA058506 | FBN1 | c.739G>A (p.Val247Met) c.636+3508G>A (n.636+3508G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534204A>C | CA392352894 | FBN1 | c.738T>G (p.Asp246Glu) c.636+3507T>G (n.636+3507T>G) | |
| 15 | g.48534204A>G | CA490028712 | FBN1 | c.738T>C (p.Asp246=) c.636+3507T>C (n.636+3507T>C) | |
| 15 | g.48534204A>T | CA392352899 | FBN1 | c.738T>A (p.Asp246Glu) c.636+3507T>A (n.636+3507T>A) | |
| 15 | g.48534205T>A | CA392352900 | FBN1 | c.737A>T (p.Asp246Val) c.636+3506A>T (n.636+3506A>T) | ClinVar |
| 15 | g.48534205T>C | CA392352903 | FBN1 | c.737A>G (p.Asp246Gly) c.636+3506A>G (n.636+3506A>G) | |
| 15 | g.48534205T>G | CA392352905 | FBN1 | c.737A>C (p.Asp246Ala) c.636+3506A>C (n.636+3506A>C) | gnomAD v4 |
| 15 | g.48534206C>A | CA392352908 | FBN1 | c.737-1G>T (n.737-1G>T) c.636+3505G>T (n.636+3505G>T) | |
| 15 | g.48534206C>G | CA392352910 | FBN1 | c.737-1G>C (n.737-1G>C) c.636+3505G>C (n.636+3505G>C) | |
| 15 | g.48534206C>T | CA392352913 | FBN1 | c.737-1G>A (n.737-1G>A) c.636+3505G>A (n.636+3505G>A) | |
| 15 | g.48534207T>A | CA392352923 | FBN1 | c.737-2A>T (n.737-2A>T) c.636+3504A>T (n.636+3504A>T) | |
| 15 | g.48534207T>C | CA392352921 | FBN1 | c.737-2A>G (n.737-2A>G) c.636+3504A>G (n.636+3504A>G) | ClinVar dbSNP |
| 15 | g.48534207T>G | CA392352918 | FBN1 | c.737-2A>C (n.737-2A>C) c.636+3504A>C (n.636+3504A>C) | |
| 15 | g.48534207T= | CA2175536932 | FBN1 | c.737-2A= (n.737-2A=) c.636+3504A= (n.636+3504A=) | |
| 15 | g.48534208G>A | CA2628337420 | FBN1 | c.737-3C>T (n.737-3C>T) c.636+3503C>T (n.636+3503C>T) | gnomAD v4 |
| 15 | g.48534208G>T | CA2628337419 | FBN1 | c.737-3C>A (n.737-3C>A) c.636+3503C>A (n.636+3503C>A) | gnomAD v4 |
| 15 | g.48534210C>A | CA2628337422 | FBN1 | c.737-5G>T (n.737-5G>T) c.636+3501G>T (n.636+3501G>T) | gnomAD v4 |
| 15 | g.48534210C= | CA2175536933 | FBN1 | c.737-5G= (n.737-5G=) c.636+3501G= (n.636+3501G=) | |
| 15 | g.48534210C>G | CA617841878 | FBN1 | c.737-5G>C (n.737-5G>C) c.636+3501G>C (n.636+3501G>C) | gnomAD v2 |
| 15 | g.48534210C>T | CA2628337423 | FBN1 | c.737-5G>A (n.737-5G>A) c.636+3501G>A (n.636+3501G>A) | gnomAD v4 |
| 15 | g.48534214_48534220del | CA2628337421 | FBN1 | c.737-11_737-5del (n.737-11_737-5del) c.636+3495_636+3501del (n.636+3495_636+3501del) | gnomAD v4 |
| 15 | g.48534211A>C | CA2628337424 | FBN1 | c.737-6T>G (n.737-6T>G) c.636+3500T>G (n.636+3500T>G) | gnomAD v4 |
| 15 | g.48534211dup | CA617841879 | FBN1 | c.737-6dup (n.737-6dup) c.636+3500dup (n.636+3500dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534212G>A | CA645594569 | FBN1 | c.737-7C>T (n.737-7C>T) c.636+3499C>T (n.636+3499C>T) | gnomAD v4 COSMIC |
| 15 | g.48534212G>T | CA2628337425 | FBN1 | c.737-7C>A (n.737-7C>A) c.636+3499C>A (n.636+3499C>A) | gnomAD v4 |
| 15 | g.48534213A>G | CA2628337426 | FBN1 | c.737-8T>C (n.737-8T>C) c.636+3498T>C (n.636+3498T>C) | gnomAD v4 |
| 15 | g.48534213_48534214delinsAT | CA2175536934 | FBN1 | c.737-9_737-8delinsAT (n.737-9_737-8delinsAT) c.636+3497_636+3498delinsAT (n.636+3497_636+3498delinsAT) | |
| 15 | g.48534214T>A | CA969573381 | FBN1 | c.737-9A>T (n.737-9A>T) c.636+3497A>T (n.636+3497A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534214T>C | CA16614841 | FBN1 | c.737-9A>G (n.737-9A>G) c.636+3497A>G (n.636+3497A>G) | ClinVar dbSNP |
| 15 | g.48534214T= | CA2175536935 | FBN1 | c.737-9A= (n.737-9A=) c.636+3497A= (n.636+3497A=) | |
| 15 | g.48534215del | CA058481 | FBN1 | c.737-9del (n.737-9del) c.636+3497del (n.636+3497del) | dbSNP ExAC gnomAD v2 |
| 15 | g.48534217del | CA2804072043 | FBN1 | c.737-12del (n.737-12del) c.636+3494del (n.636+3494del) | |
| 15 | g.48534217C>A | CA2628337427 | FBN1 | c.737-12G>T (n.737-12G>T) c.636+3494G>T (n.636+3494G>T) | gnomAD v4 |
| 15 | g.48534217C>T | CA2628337428 | FBN1 | c.737-12G>A (n.737-12G>A) c.636+3494G>A (n.636+3494G>A) | gnomAD v4 |
| 15 | g.48534218A>C | CA2804072045 | FBN1 | c.737-13T>G (n.737-13T>G) c.636+3493T>G (n.636+3493T>G) | |
| 15 | g.48534218_48534219insAA | CA2628337430 | FBN1 | c.737-13_737-12insTT (n.737-13_737-12insTT) c.636+3493_636+3494insTT (n.636+3493_636+3494insTT) | gnomAD v4 |
| 15 | g.48534218dup | CA2628337429 | FBN1 | c.737-13dup (n.737-13dup) c.636+3493dup (n.636+3493dup) | gnomAD v4 |
| 15 | g.48534219_48534220del | CA2628337431 | FBN1 | c.737-14_737-13del (n.737-14_737-13del) c.636+3492_636+3493del (n.636+3492_636+3493del) | gnomAD v4 |
| 15 | g.48534221_48534223del | CA2628337432 | FBN1 | c.737-15_737-13del (n.737-15_737-13del) c.636+3491_636+3493del (n.636+3491_636+3493del) | gnomAD v4 |
| 15 | g.48534219del | CA2628337433 | FBN1 | c.737-14del (n.737-14del) c.636+3492del (n.636+3492del) | gnomAD v4 |
| 15 | g.48534219G>A | CA617841880 | FBN1 | c.737-14C>T (n.737-14C>T) c.636+3492C>T (n.636+3492C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534219G>C | CA2628337435 | FBN1 | c.737-14C>G (n.737-14C>G) c.636+3492C>G (n.636+3492C>G) | gnomAD v4 |
| 15 | g.48534219G= | CA2175536936 | FBN1 | c.737-14C= (n.737-14C=) c.636+3492C= (n.636+3492C=) | |
| 15 | g.48534219G>T | CA2628337434 | FBN1 | c.737-14C>A (n.737-14C>A) c.636+3492C>A (n.636+3492C>A) | gnomAD v4 |
| 15 | g.48534221_48534222insAAA | CA2804072049 | FBN1 | c.737-15_737-14insTTT (n.737-15_737-14insTTT) c.636+3491_636+3492insTTT (n.636+3491_636+3492insTTT) | |
| 15 | g.48534221dup | CA2804072048 | FBN1 | c.737-15dup (n.737-15dup) c.636+3491dup (n.636+3491dup) | |
| 15 | g.48534220_48534224delinsAAGAC | CA2175536937 | FBN1 | c.737-19_737-15delinsGTCTT (n.737-19_737-15delinsGTCTT) c.636+3487_636+3491delinsGTCTT (n.636+3487_636+3491delinsGTCTT) | |
| 15 | g.48534220_48534225del | CA2575717687 | FBN1 | c.737-20_737-15del (n.737-20_737-15del) c.636+3486_636+3491del (n.636+3486_636+3491del) | |
| 15 | g.48534221A>C | CA2804072052 | FBN1 | c.737-16T>G (n.737-16T>G) c.636+3490T>G (n.636+3490T>G) | |
| 15 | g.48534221A>T | CA2628337436 | FBN1 | c.737-16T>A (n.737-16T>A) c.636+3490T>A (n.636+3490T>A) | gnomAD v4 |
| 15 | g.48534221_48534222delinsAG | CA2175536938 | FBN1 | c.737-17_737-16delinsCT (n.737-17_737-16delinsCT) c.636+3489_636+3490delinsCT (n.636+3489_636+3490delinsCT) | |
| 15 | g.48534224_48534227del | CA058385 | FBN1 | c.737-19_737-16del (n.737-19_737-16del) c.636+3487_636+3490del (n.636+3487_636+3490del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534222del | CA617841881 | FBN1 | c.737-17del (n.737-17del) c.636+3489del (n.636+3489del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534222G>A | CA617841882 | FBN1 | c.737-17C>T (n.737-17C>T) c.636+3489C>T (n.636+3489C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534222G>C | CA2628337437 | FBN1 | c.737-17C>G (n.737-17C>G) c.636+3489C>G (n.636+3489C>G) | ClinVar gnomAD v4 |
| 15 | g.48534222G= | CA2175536939 | FBN1 | c.737-17C= (n.737-17C=) c.636+3489C= (n.636+3489C=) | |
| 15 | g.48534222G>T | CA2628337438 | FBN1 | c.737-17C>A (n.737-17C>A) c.636+3489C>A (n.636+3489C>A) | gnomAD v4 |
| 15 | g.48534223A>C | CA2804072054 | FBN1 | c.737-18T>G (n.737-18T>G) c.636+3488T>G (n.636+3488T>G) | |
| 15 | g.48534223dup | CA2628337439 | FBN1 | c.737-18dup (n.737-18dup) c.636+3488dup (n.636+3488dup) | gnomAD v4 |
| 15 | g.48534223_48534224delinsAC | CA2175536940 | FBN1 | c.737-19_737-18delinsGT (n.737-19_737-18delinsGT) c.636+3487_636+3488delinsGT (n.636+3487_636+3488delinsGT) | |
| 15 | g.48534224_48534225del | CA2628337440 | FBN1 | c.737-19_737-18del (n.737-19_737-18del) c.636+3487_636+3488del (n.636+3487_636+3488del) | gnomAD v4 |
| 15 | g.48534224del | CA617841883 | FBN1 | c.737-19del (n.737-19del) c.636+3487del (n.636+3487del) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534224C>A | CA617841884 | FBN1 | c.737-19G>T (n.737-19G>T) c.636+3487G>T (n.636+3487G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534224C= | CA2175536942 | FBN1 | c.737-19G= (n.737-19G=) c.636+3487G= (n.636+3487G=) | |
| 15 | g.48534224C>G | CA2575717702 | FBN1 | c.737-19G>C (n.737-19G>C) c.636+3487G>C (n.636+3487G>C) | ClinVar |
| 15 | g.48534224C>T | CA2628337441 | FBN1 | c.737-19G>A (n.737-19G>A) c.636+3487G>A (n.636+3487G>A) | gnomAD v4 |
| 15 | g.48534224_48534228delinsCAGAG | CA2175536941 | FBN1 | c.737-23_737-19delinsCTCTG (n.737-23_737-19delinsCTCTG) c.636+3483_636+3487delinsCTCTG (n.636+3483_636+3487delinsCTCTG) | |
| 15 | g.48534225A= | CA2175536943 | FBN1 | c.737-20T= (n.737-20T=) c.636+3486T= (n.636+3486T=) | |
| 15 | g.48534225A>C | CA058393 | FBN1 | c.737-20T>G (n.737-20T>G) c.636+3486T>G (n.636+3486T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534225A>G | CA2628337443 | FBN1 | c.737-20T>C (n.737-20T>C) c.636+3486T>C (n.636+3486T>C) | gnomAD v4 |
| 15 | g.48534225A>T | CA2628337442 | FBN1 | c.737-20T>A (n.737-20T>A) c.636+3486T>A (n.636+3486T>A) | gnomAD v4 |
| 15 | g.48534225_48534226insAA | CA2804072056 | FBN1 | c.737-20_737-19insTT (n.737-20_737-19insTT) c.636+3486_636+3487insTT (n.636+3486_636+3487insTT) | |
| 15 | g.48534225dup | CA617841885 | FBN1 | c.737-20dup (n.737-20dup) c.636+3486dup (n.636+3486dup) | gnomAD v2 gnomAD v4 |
| 15 | g.48534230_48534231del | CA7547947 | FBN1 | c.737-21_737-20del (n.737-21_737-20del) c.636+3485_636+3486del (n.636+3485_636+3486del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534228_48534231del | CA058399 | FBN1 | c.737-23_737-20del (n.737-23_737-20del) c.636+3483_636+3486del (n.636+3483_636+3486del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534226del | CA617841887 | FBN1 | c.737-21del (n.737-21del) c.636+3485del (n.636+3485del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534226G>A | CA617841886 | FBN1 | c.737-21C>T (n.737-21C>T) c.636+3485C>T (n.636+3485C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534226G>C | CA058396 | FBN1 | c.737-21C>G (n.737-21C>G) c.636+3485C>G (n.636+3485C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534226G= | CA2175536945 | FBN1 | c.737-21C= (n.737-21C=) c.636+3485C= (n.636+3485C=) | |
| 15 | g.48534226G>T | CA2628337444 | FBN1 | c.737-21C>A (n.737-21C>A) c.636+3485C>A (n.636+3485C>A) | gnomAD v4 |
| 15 | g.48534227A= | CA2175536948 | FBN1 | c.737-22T= (n.737-22T=) c.636+3484T= (n.636+3484T=) | |
| 15 | g.48534227A>G | CA617841890 | FBN1 | c.737-22T>C (n.737-22T>C) c.636+3484T>C (n.636+3484T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534227_48534228insAA | CA617841889 | FBN1 | c.737-22_737-21insTT (n.737-22_737-21insTT) c.636+3484_636+3485insTT (n.636+3484_636+3485insTT) | gnomAD v2 gnomAD v4 |
| 15 | g.48534227_48534228insTA | CA2628337445 | FBN1 | c.737-22_737-21insAT (n.737-22_737-21insAT) c.636+3484_636+3485insAT (n.636+3484_636+3485insAT) | gnomAD v4 |
| 15 | g.48534227dup | CA617841888 | FBN1 | c.737-22dup (n.737-22dup) c.636+3484dup (n.636+3484dup) | gnomAD v2 gnomAD v4 |
| 15 | g.48534228del | CA969573399 | FBN1 | c.737-23del (n.737-23del) c.636+3483del (n.636+3483del) | gnomAD v3 gnomAD v4 |
| 15 | g.48534228G>A | CA617841891 | FBN1 | c.737-23C>T (n.737-23C>T) c.636+3483C>T (n.636+3483C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534228G>C | CA969573403 | FBN1 | c.737-23C>G (n.737-23C>G) c.636+3483C>G (n.636+3483C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534228G= | CA2175536953 | FBN1 | c.737-23C= (n.737-23C=) c.636+3483C= (n.636+3483C=) | |
| 15 | g.48534228G>T | CA2628337446 | FBN1 | c.737-23C>A (n.737-23C>A) c.636+3483C>A (n.636+3483C>A) | gnomAD v4 |
| 15 | g.48534228_48534230del | CA2804072061 | FBN1 | c.737-25_737-23del (n.737-25_737-23del) c.636+3481_636+3483del (n.636+3481_636+3483del) | |
| 15 | g.48534228_48534231delinsGAGA | CA2175536952 | FBN1 | c.737-26_737-23delinsTCTC (n.737-26_737-23delinsTCTC) c.636+3480_636+3483delinsTCTC (n.636+3480_636+3483delinsTCTC) | |
| 15 | g.48534229del | CA2628337450 | FBN1 | c.737-24del (n.737-24del) c.636+3482del (n.636+3482del) | gnomAD v4 |
| 15 | g.48534229A= | CA2175536958 | FBN1 | c.737-24T= (n.737-24T=) c.636+3482T= (n.636+3482T=) | |
| 15 | g.48534229A>G | CA2628337447 | FBN1 | c.737-24T>C (n.737-24T>C) c.636+3482T>C (n.636+3482T>C) | gnomAD v4 |
| 15 | g.48534229_48534230insAA | CA2628337451 | FBN1 | c.737-24_737-23insTT (n.737-24_737-23insTT) c.636+3482_636+3483insTT (n.636+3482_636+3483insTT) | gnomAD v4 |
| 15 | g.48534229_48534230insTA | CA2628337449 | FBN1 | c.737-24_737-23insAT (n.737-24_737-23insAT) c.636+3482_636+3483insAT (n.636+3482_636+3483insAT) | gnomAD v4 |
| 15 | g.48534229_48534230insAAA | CA2628337452 | FBN1 | c.737-24_737-23insTTT (n.737-24_737-23insTTT) c.636+3482_636+3483insTTT (n.636+3482_636+3483insTTT) | gnomAD v4 |
| 15 | g.48534229dup | CA617841892 | FBN1 | c.737-24dup (n.737-24dup) c.636+3482dup (n.636+3482dup) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534229_48534230delinsAG | CA2175536957 | FBN1 | c.737-25_737-24delinsCT (n.737-25_737-24delinsCT) c.636+3481_636+3482delinsCT (n.636+3481_636+3482delinsCT) | |
| 15 | g.48534230_48534232del | CA058413 | FBN1 | c.737-26_737-24del (n.737-26_737-24del) c.636+3480_636+3482del (n.636+3480_636+3482del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534230_48534233del | CA2628337448 | FBN1 | c.737-27_737-24del (n.737-27_737-24del) c.636+3479_636+3482del (n.636+3479_636+3482del) | gnomAD v4 |
| 15 | g.48534229_48534230insC | CA2628337453 | FBN1 | c.737-25_737-24insG (n.737-25_737-24insG) c.636+3481_636+3482insG (n.636+3481_636+3482insG) | gnomAD v4 |
| 15 | g.48534229_48534230insT | CA2628337454 | FBN1 | c.737-25_737-24insA (n.737-25_737-24insA) c.636+3481_636+3482insA (n.636+3481_636+3482insA) | gnomAD v4 |
| 15 | g.48534230del | CA058410 | FBN1 | c.737-25del (n.737-25del) c.636+3481del (n.636+3481del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534230G>A | CA7547952 | FBN1 | c.737-25C>T (n.737-25C>T) c.636+3481C>T (n.636+3481C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534230G>C | CA2581215363 | FBN1 | c.737-25C>G (n.737-25C>G) c.636+3481C>G (n.636+3481C>G) | gnomAD v4 |
| 15 | g.48534230G= | CA2175536964 | FBN1 | c.737-25C= (n.737-25C=) c.636+3481C= (n.636+3481C=) | |
| 15 | g.48534230G>T | CA2581215362 | FBN1 | c.737-25C>A (n.737-25C>A) c.636+3481C>A (n.636+3481C>A) | dbSNP gnomAD v4 |
| 15 | g.48534230dup | CA713403815 | FBN1 | c.737-25dup (n.737-25dup) c.636+3481dup (n.636+3481dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534230_48534231delinsGA | CA2695238858 | FBN1 | c.737-26_737-25delinsTC (n.737-26_737-25delinsTC) c.636+3480_636+3481delinsTC (n.636+3480_636+3481delinsTC) | |
| 15 | g.48534230_48534232delinsGAA | CA2175536966 | FBN1 | c.737-27_737-25delinsTTC (n.737-27_737-25delinsTTC) c.636+3479_636+3481delinsTTC (n.636+3479_636+3481delinsTTC) | |
| 15 | g.48534231A= | CA2175536972 | FBN1 | c.737-26T= (n.737-26T=) c.636+3480T= (n.636+3480T=) | |
| 15 | g.48534231A>G | CA058418 | FBN1 | c.737-26T>C (n.737-26T>C) c.636+3480T>C (n.636+3480T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534231A>T | CA2628337459 | FBN1 | c.737-26T>A (n.737-26T>A) c.636+3480T>A (n.636+3480T>A) | gnomAD v4 |
| 15 | g.48534242dup | CA7547949 | FBN1 | c.737-26dup (n.737-26dup) c.636+3480dup (n.636+3480dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534241_48534242dup | CA7547950 | FBN1 | c.737-27_737-26dup (n.737-27_737-26dup) c.636+3479_636+3480dup (n.636+3479_636+3480dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534240_48534242dup | CA2628337455 | FBN1 | c.737-28_737-26dup (n.737-28_737-26dup) c.636+3478_636+3480dup (n.636+3478_636+3480dup) | gnomAD v4 |
| 15 | g.48534239_48534242dup | CA2628337456 | FBN1 | c.737-29_737-26dup (n.737-29_737-26dup) c.636+3477_636+3480dup (n.636+3477_636+3480dup) | gnomAD v4 |
| 15 | g.48534238_48534242dup | CA2628337457 | FBN1 | c.737-30_737-26dup (n.737-30_737-26dup) c.636+3476_636+3480dup (n.636+3476_636+3480dup) | gnomAD v4 |
| 15 | g.48534242del | CA7547948 | FBN1 | c.737-26del (n.737-26del) c.636+3480del (n.636+3480del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534241_48534242del | CA7547951 | FBN1 | c.737-27_737-26del (n.737-27_737-26del) c.636+3479_636+3480del (n.636+3479_636+3480del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534240_48534242del | CA2628337458 | FBN1 | c.737-28_737-26del (n.737-28_737-26del) c.636+3478_636+3480del (n.636+3478_636+3480del) | gnomAD v4 |
| 15 | g.48534232A= | CA2175536976 | FBN1 | c.737-27T= (n.737-27T=) c.636+3479T= (n.636+3479T=) | |
| 15 | g.48534232A>G | CA058443 | FBN1 | c.737-27T>C (n.737-27T>C) c.636+3479T>C (n.636+3479T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534233A>T | CA2575717707 | FBN1 | c.737-28T>A (n.737-28T>A) c.636+3478T>A (n.636+3478T>A) | gnomAD v4 |
| 15 | g.48534234A= | CA2175536978 | FBN1 | c.737-29T= (n.737-29T=) c.636+3477T= (n.636+3477T=) | |
| 15 | g.48534234A>G | CA969573418 | FBN1 | c.737-29T>C (n.737-29T>C) c.636+3477T>C (n.636+3477T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534236A>G | CA2628337461 | FBN1 | c.737-31T>C (n.737-31T>C) c.636+3475T>C (n.636+3475T>C) | gnomAD v4 |
| 15 | g.48534236_48534237insGA | CA2628337460 | FBN1 | c.737-31_737-30insCT (n.737-31_737-30insCT) c.636+3475_636+3476insCT (n.636+3475_636+3476insCT) | gnomAD v4 |
| 15 | g.48534237A>C | CA2575717708 | FBN1 | c.737-32T>G (n.737-32T>G) c.636+3474T>G (n.636+3474T>G) | gnomAD v4 |
| 15 | g.48534237_48534238insC | CA2804072072 | FBN1 | c.737-33_737-32insG (n.737-33_737-32insG) c.636+3473_636+3474insG (n.636+3473_636+3474insG) | |
| 15 | g.48534238A= | CA2175536979 | FBN1 | c.737-33T= (n.737-33T=) c.636+3473T= (n.636+3473T=) | |
| 15 | g.48534238A>G | CA2628337462 | FBN1 | c.737-33T>C (n.737-33T>C) c.636+3473T>C (n.636+3473T>C) | gnomAD v4 |
| 15 | g.48534238A>T | CA2175536980 | FBN1 | c.737-33T>A (n.737-33T>A) c.636+3473T>A (n.636+3473T>A) | dbSNP |
| 15 | g.48534238_48534239insC | CA2804072074 | FBN1 | c.737-34_737-33insG (n.737-34_737-33insG) c.636+3472_636+3473insG (n.636+3472_636+3473insG) | |
| 15 | g.48534239A= | CA2175536982 | FBN1 | c.737-34T= (n.737-34T=) c.636+3472T= (n.636+3472T=) | |
| 15 | g.48534239A>G | CA617841893 | FBN1 | c.737-34T>C (n.737-34T>C) c.636+3472T>C (n.636+3472T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534240A>G | CA2628337463 | FBN1 | c.737-35T>C (n.737-35T>C) c.636+3471T>C (n.636+3471T>C) | gnomAD v4 |
| 15 | g.48534240_48534241insCCAAACACACCC | CA2804072078 | FBN1 | c.737-36_737-35insGGGTGTGTTTGG (n.737-36_737-35insGGGTGTGTTTGG) c.636+3470_636+3471insGGGTGTGTTTGG (n.636+3470_636+3471insGGGTGTGTTTGG) | |
| 15 | g.48534241_48534242insCCAAACACACCCA | CA2804072077 | FBN1 | c.737-36_737-35insGGGTGTGTTTGGT (n.737-36_737-35insGGGTGTGTTTGGT) c.636+3470_636+3471insGGGTGTGTTTGGT (n.636+3470_636+3471insGGGTGTGTTTGGT) | |
| 15 | g.48534243_48534244insCAAACACACCCAAC | CA2804072076 | FBN1 | c.737-36_737-35insGGGTGTGTTTGGTT (n.737-36_737-35insGGGTGTGTTTGGTT) c.636+3470_636+3471insGGGTGTGTTTGGTT (n.636+3470_636+3471insGGGTGTGTTTGGTT) | |
| 15 | g.48534242A= | CA2175536984 | FBN1 | c.737-37T= (n.737-37T=) c.636+3469T= (n.636+3469T=) | |
| 15 | g.48534242A>C | CA7547953 | FBN1 | c.737-37T>G (n.737-37T>G) c.636+3469T>G (n.636+3469T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534242A>G | CA2575717709 | FBN1 | c.737-37T>C (n.737-37T>C) c.636+3469T>C (n.636+3469T>C) | |
| 15 | g.48534242A>T | CA2628337464 | FBN1 | c.737-37T>A (n.737-37T>A) c.636+3469T>A (n.636+3469T>A) | gnomAD v4 |
| 15 | g.48534242_48534244delinsACT | CA2175536985 | FBN1 | c.737-39_737-37delinsAGT (n.737-39_737-37delinsAGT) c.636+3467_636+3469delinsAGT (n.636+3467_636+3469delinsAGT) | |
| 15 | g.48534243C>A | CA2628337467 | FBN1 | c.737-38G>T (n.737-38G>T) c.636+3468G>T (n.636+3468G>T) | gnomAD v4 |
| 15 | g.48534243C>T | CA2628337465 | FBN1 | c.737-38G>A (n.737-38G>A) c.636+3468G>A (n.636+3468G>A) | gnomAD v4 |
| 15 | g.48534243_48534244delinsCT | CA2175536988 | FBN1 | c.737-39_737-38delinsAG (n.737-39_737-38delinsAG) c.636+3467_636+3468delinsAG (n.636+3467_636+3468delinsAG) | |
| 15 | g.48534243_48534245del | CA2628337466 | FBN1 | c.737-40_737-38del (n.737-40_737-38del) c.636+3466_636+3468del (n.636+3466_636+3468del) | gnomAD v4 |
| 15 | g.48534244_48534245del | CA7547954 | FBN1 | c.737-39_737-38del (n.737-39_737-38del) c.636+3467_636+3468del (n.636+3467_636+3468del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534244del | CA058452 | FBN1 | c.737-39del (n.737-39del) c.636+3467del (n.636+3467del) | dbSNP ExAC gnomAD v4 |
| 15 | g.48534244T>A | CA2804072079 | FBN1 | c.737-39A>T (n.737-39A>T) c.636+3467A>T (n.636+3467A>T) | |
| 15 | g.48534244T>C | CA2628337468 | FBN1 | c.737-39A>G (n.737-39A>G) c.636+3467A>G (n.636+3467A>G) | gnomAD v4 |
| 15 | g.48534245C>A | CA2628337469 | FBN1 | c.737-40G>T (n.737-40G>T) c.636+3466G>T (n.636+3466G>T) | gnomAD v4 |
| 15 | g.48534245C= | CA2175536991 | FBN1 | c.737-40G= (n.737-40G=) c.636+3466G= (n.636+3466G=) | |
| 15 | g.48534245C>G | CA058455 | FBN1 | c.737-40G>C (n.737-40G>C) c.636+3466G>C (n.636+3466G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534246A>G | CA2628337470 | FBN1 | c.737-41T>C (n.737-41T>C) c.636+3465T>C (n.636+3465T>C) | gnomAD v4 |
| 15 | g.48534247del | CA2628337471 | FBN1 | c.737-42del (n.737-42del) c.636+3464del (n.636+3464del) | gnomAD v4 |
| 15 | g.48534247T>A | CA2628337472 | FBN1 | c.737-42A>T (n.737-42A>T) c.636+3464A>T (n.636+3464A>T) | gnomAD v4 |
| 15 | g.48534247T>C | CA058461 | FBN1 | c.737-42A>G (n.737-42A>G) c.636+3464A>G (n.636+3464A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534247T= | CA2175536993 | FBN1 | c.737-42A= (n.737-42A=) c.636+3464A= (n.636+3464A=) | |
| 15 | g.48534248A= | CA2175536995 | FBN1 | c.737-43T= (n.737-43T=) c.636+3463T= (n.636+3463T=) | |
| 15 | g.48534248A>G | CA058464 | FBN1 | c.737-43T>C (n.737-43T>C) c.636+3463T>C (n.636+3463T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534249T>A | CA2628337474 | FBN1 | c.737-44A>T (n.737-44A>T) c.636+3462A>T (n.636+3462A>T) | gnomAD v4 |
| 15 | g.48534249T>C | CA058470 | FBN1 | c.737-44A>G (n.737-44A>G) c.636+3462A>G (n.636+3462A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48534249T= | CA2175536997 | FBN1 | c.737-44A= (n.737-44A=) c.636+3462A= (n.636+3462A=) | |
| 15 | g.48534249_48534250del | CA2628337473 | FBN1 | c.737-45_737-44del (n.737-45_737-44del) c.636+3461_636+3462del (n.636+3461_636+3462del) | gnomAD v4 |
| 15 | g.48534250G>A | CA2628337475 | FBN1 | c.737-45C>T (n.737-45C>T) c.636+3461C>T (n.636+3461C>T) | gnomAD v4 |
| 15 | g.48534250G>T | CA2628337476 | FBN1 | c.737-45C>A (n.737-45C>A) c.636+3461C>A (n.636+3461C>A) | gnomAD v4 |
| 15 | g.48534251A>G | CA2628337478 | FBN1 | c.737-46T>C (n.737-46T>C) c.636+3460T>C (n.636+3460T>C) | gnomAD v4 |
| 15 | g.48534253dup | CA2628337477 | FBN1 | c.737-46dup (n.737-46dup) c.636+3460dup (n.636+3460dup) | gnomAD v4 |
| 15 | g.48534252A>G | CA2628337479 | FBN1 | c.737-47T>C (n.737-47T>C) c.636+3459T>C (n.636+3459T>C) | gnomAD v4 |
| 15 | g.48534252A>T | CA2628337480 | FBN1 | c.737-47T>A (n.737-47T>A) c.636+3459T>A (n.636+3459T>A) | gnomAD v4 |
| 15 | g.48534253A>C | CA2628337481 | FBN1 | c.737-48T>G (n.737-48T>G) c.636+3458T>G (n.636+3458T>G) | gnomAD v4 |
| 15 | g.48534253A>G | CA2628337482 | FBN1 | c.737-48T>C (n.737-48T>C) c.636+3458T>C (n.636+3458T>C) | gnomAD v4 |
| 15 | g.48534253_48534254delinsAT | CA2175536999 | FBN1 | c.737-49_737-48delinsAT (n.737-49_737-48delinsAT) c.636+3457_636+3458delinsAT (n.636+3457_636+3458delinsAT) | |
| 15 | g.48534254T>C | CA2628337483 | FBN1 | c.737-49A>G (n.737-49A>G) c.636+3457A>G (n.636+3457A>G) | gnomAD v4 |
| 15 | g.48534254T>G | CA2628337484 | FBN1 | c.737-49A>C (n.737-49A>C) c.636+3457A>C (n.636+3457A>C) | gnomAD v4 |
| 15 | g.48534255del | CA2175537000 | FBN1 | c.737-49del (n.737-49del) c.636+3457del (n.636+3457del) | dbSNP |
| 15 | g.48534255T>C | CA2628337485 | FBN1 | c.737-50A>G (n.737-50A>G) c.636+3456A>G (n.636+3456A>G) | gnomAD v4 |
| 15 | g.48534256C>A | CA617841894 | FBN1 | c.737-51G>T (n.737-51G>T) c.636+3455G>T (n.636+3455G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48534256C= | CA2175537001 | FBN1 | c.737-51G= (n.737-51G=) c.636+3455G= (n.636+3455G=) | |
| 15 | g.48534257A>G | CA2628337486 | FBN1 | c.737-52T>C (n.737-52T>C) c.636+3454T>C (n.636+3454T>C) | gnomAD v4 |
| 15 | g.48534258T>A | CA2581215364 | FBN1 | c.737-53A>T (n.737-53A>T) c.636+3453A>T (n.636+3453A>T) | |
| 15 | g.48534258T>C | CA14183560 | FBN1 | c.737-53A>G (n.737-53A>G) c.636+3453A>G (n.636+3453A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48534258T>G | CA2581215365 | FBN1 | c.737-53A>C (n.737-53A>C) c.636+3453A>C (n.636+3453A>C) | |
| 15 | g.48534258T= | CA2175537004 | FBN1 | c.737-53A= (n.737-53A=) c.636+3453A= (n.636+3453A=) | |
| 15 | g.48534260G>A | CA2628337487 | FBN1 | c.737-55C>T (n.737-55C>T) c.636+3451C>T (n.636+3451C>T) | gnomAD v4 |
| 15 | g.48534260G>T | CA2628337488 | FBN1 | c.737-55C>A (n.737-55C>A) c.636+3451C>A (n.636+3451C>A) | gnomAD v4 |
| 15 | g.48534261C>A | CA2628337489 | FBN1 | c.737-56G>T (n.737-56G>T) c.636+3450G>T (n.636+3450G>T) | gnomAD v4 |
| 15 | g.48534261C>T | CA2628337490 | FBN1 | c.737-56G>A (n.737-56G>A) c.636+3450G>A (n.636+3450G>A) | gnomAD v4 |
| 15 | g.48534262A>G | CA2628337491 | FBN1 | c.737-57T>C (n.737-57T>C) c.636+3449T>C (n.636+3449T>C) | gnomAD v4 |
| 15 | g.48534263_48534264del | CA2804072081 | FBN1 | c.737-58_737-57del (n.737-58_737-57del) c.636+3448_636+3449del (n.636+3448_636+3449del) | |
| 15 | g.48534263G>A | CA2628337492 | FBN1 | c.737-58C>T (n.737-58C>T) c.636+3448C>T (n.636+3448C>T) | gnomAD v4 |
| 15 | g.48534263G>T | CA2628337493 | FBN1 | c.737-58C>A (n.737-58C>A) c.636+3448C>A (n.636+3448C>A) | gnomAD v4 |
| 15 | g.48534264A= | CA2175537008 | FBN1 | c.737-59T= (n.737-59T=) c.636+3447T= (n.636+3447T=) | |
| 15 | g.48534264A>G | CA969573426 | FBN1 | c.737-59T>C (n.737-59T>C) c.636+3447T>C (n.636+3447T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534267A= | CA2175537014 | FBN1 | c.737-62T= (n.737-62T=) c.636+3444T= (n.636+3444T=) | |
| 15 | g.48534267A>T | CA269573266 | FBN1 | c.737-62T>A (n.737-62T>A) c.636+3444T>A (n.636+3444T>A) | dbSNP gnomAD v4 |
| 15 | g.48534270del | CA2628337494 | FBN1 | c.737-62del (n.737-62del) c.636+3444del (n.636+3444del) | gnomAD v4 |
| 15 | g.48534269A>C | CA2628337495 | FBN1 | c.737-64T>G (n.737-64T>G) c.636+3442T>G (n.636+3442T>G) | gnomAD v4 |
| 15 | g.48534270A>C | CA2628337496 | FBN1 | c.737-65T>G (n.737-65T>G) c.636+3441T>G (n.636+3441T>G) | gnomAD v4 |
| 15 | g.48534272G>A | CA2628337497 | FBN1 | c.737-67C>T (n.737-67C>T) c.636+3439C>T (n.636+3439C>T) | gnomAD v4 |
| 15 | g.48534272G>T | CA2628337498 | FBN1 | c.737-67C>A (n.737-67C>A) c.636+3439C>A (n.636+3439C>A) | gnomAD v4 |
| 15 | g.48534273T>G | CA2628337499 | FBN1 | c.737-68A>C (n.737-68A>C) c.636+3438A>C (n.636+3438A>C) | gnomAD v4 |
| 15 | g.48534274G>A | CA2628337500 | FBN1 | c.737-69C>T (n.737-69C>T) c.636+3437C>T (n.636+3437C>T) | gnomAD v4 |
| 15 | g.48534274G>T | CA2628337501 | FBN1 | c.737-69C>A (n.737-69C>A) c.636+3437C>A (n.636+3437C>A) | gnomAD v4 |
| 15 | g.48534275A= | CA2175537017 | FBN1 | c.737-70T= (n.737-70T=) c.636+3436T= (n.636+3436T=) | |
| 15 | g.48534275A>G | CA713403840 | FBN1 | c.737-70T>C (n.737-70T>C) c.636+3436T>C (n.636+3436T>C) | dbSNP |
| 15 | g.48534277A= | CA2175537019 | FBN1 | c.737-72T= (n.737-72T=) c.636+3434T= (n.636+3434T=) | |
| 15 | g.48534277A>C | CA269573275 | FBN1 | c.737-72T>G (n.737-72T>G) c.636+3434T>G (n.636+3434T>G) | dbSNP |
| 15 | g.48534278A>T | CA2628337502 | FBN1 | c.737-73T>A (n.737-73T>A) c.636+3433T>A (n.636+3433T>A) | gnomAD v4 |
| 15 | g.48534279T>C | CA713403845 | FBN1 | c.737-74A>G (n.737-74A>G) c.636+3432A>G (n.636+3432A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48534279T= | CA2175537021 | FBN1 | c.737-74A= (n.737-74A=) c.636+3432A= (n.636+3432A=) | |
| 15 | g.48534282G>T | CA2575717710 | FBN1 | c.737-77C>A (n.737-77C>A) c.636+3429C>A (n.636+3429C>A) | gnomAD v4 |
| 15 | g.48534283T>C | CA2575717711 | FBN1 | c.737-78A>G (n.737-78A>G) c.636+3428A>G (n.636+3428A>G) | gnomAD v4 |
| 15 | g.48534284C>A | CA2628337503 | FBN1 | c.737-79G>T (n.737-79G>T) c.636+3427G>T (n.636+3427G>T) | gnomAD v4 |
| 15 | g.48534284C= | CA2175537023 | FBN1 | c.737-79G= (n.737-79G=) c.636+3427G= (n.636+3427G=) | |
| 15 | g.48534284C>T | CA269573282 | FBN1 | c.737-79G>A (n.737-79G>A) c.636+3427G>A (n.636+3427G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534285del | CA2575717712 | FBN1 | c.737-79del (n.737-79del) c.636+3427del (n.636+3427del) | |
| 15 | g.48534285C>A | CA2628337504 | FBN1 | c.737-80G>T (n.737-80G>T) c.636+3426G>T (n.636+3426G>T) | gnomAD v4 |
| 15 | g.48534285C>G | CA2628337505 | FBN1 | c.737-80G>C (n.737-80G>C) c.636+3426G>C (n.636+3426G>C) | gnomAD v4 |
| 15 | g.48534285C>T | CA2628337506 | FBN1 | c.737-80G>A (n.737-80G>A) c.636+3426G>A (n.636+3426G>A) | gnomAD v4 |
| 15 | g.48534286A>C | CA2575717713 | FBN1 | c.737-81T>G (n.737-81T>G) c.636+3425T>G (n.636+3425T>G) | |
| 15 | g.48534287_48534301delinsCAATTATGTTACCAT | CA2175537025 | FBN1 | c.737-96_737-82delinsATGGTAACATAATTG (n.737-96_737-82delinsATGGTAACATAATTG) c.636+3410_636+3424delinsATGGTAACATAATTG (n.636+3410_636+3424delinsATGGTAACATAATTG) | |
| 15 | g.48534289_48534302del | CA617841895 | FBN1 | c.737-96_737-83del (n.737-96_737-83del) c.636+3410_636+3423del (n.636+3410_636+3423del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48534290T>G | CA2628337507 | FBN1 | c.737-85A>C (n.737-85A>C) c.636+3421A>C (n.636+3421A>C) | gnomAD v4 |
| 15 | g.48534291T>A | CA269573284 | FBN1 | c.737-86A>T (n.737-86A>T) c.636+3420A>T (n.636+3420A>T) | dbSNP |
| 15 | g.48534291T= | CA2175537029 | FBN1 | c.737-86A= (n.737-86A=) c.636+3420A= (n.636+3420A=) | |
| 15 | g.48534294G>A | CA2804072090 | FBN1 | c.737-89C>T (n.737-89C>T) c.636+3417C>T (n.636+3417C>T) |