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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.48474261A>C | CA392319894 | FBN1 | c.4204T>G (p.Cys1402Gly) n.2878T>G c.876T>G (p.Leu292=) | ClinVar dbSNP |
| 15 | g.48474261A>G | CA392319901 | FBN1 | c.4204T>C (p.Cys1402Arg) n.2878T>C c.876T>C (p.Leu292=) | ClinVar |
| 15 | g.48474261A>T | CA392319903 | FBN1 | c.4204T>A (p.Cys1402Ser) n.2878T>A c.876T>A (p.Leu292=) | |
| 15 | g.48474262dup | CA645584731 | FBN1 | c.4204dup (p.Cys1402LeufsTer5) n.2878dup c.876dup (p.Val293CysfsTer?) | COSMIC |
| 15 | g.48474261_48474262insT | CA490014689 | FBN1 | c.4203_4204insA (p.Cys1402MetfsTer5) n.2877_2878insA c.875_876insA (p.Val293CysfsTer?) | |
| 15 | g.48474262A= | CA2175494958 | FBN1 | c.4203T= (p.Thr1401=) n.2877T= c.875T= (p.Leu292=) | |
| 15 | g.48474262A>C | CA490014688 | FBN1 | c.4203T>G (p.Thr1401=) n.2877T>G c.875T>G (p.Leu292Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474262A>G | CA490014686 | FBN1 | c.4203T>C (p.Thr1401=) n.2877T>C c.875T>C (p.Leu292Pro) | |
| 15 | g.48474262A>T | CA490014687 | FBN1 | c.4203T>A (p.Thr1401=) n.2877T>A c.875T>A (p.Leu292His) | |
| 15 | g.48474263G>A | CA392319905 | FBN1 | c.4202C>T (p.Thr1401Ile) n.2876C>T c.874C>T (p.Leu292Phe) | gnomAD v4 |
| 15 | g.48474263G>C | CA392319908 | FBN1 | c.4202C>G (p.Thr1401Ser) n.2876C>G c.874C>G (p.Leu292Val) | |
| 15 | g.48474263G= | CA2175494965 | FBN1 | c.4202C= (p.Thr1401=) n.2876C= c.874C= (p.Leu292=) | |
| 15 | g.48474263G>T | CA392319918 | FBN1 | c.4202C>A (p.Thr1401Asn) n.2876C>A c.874C>A (p.Leu292Ile) | ClinVar dbSNP |
| 15 | g.48474264T>A | CA392319923 | FBN1 | c.4201A>T (p.Thr1401Ser) n.2875A>T c.873A>T (p.Ser291=) | |
| 15 | g.48474264T>C | CA392319924 | FBN1 | c.4201A>G (p.Thr1401Ala) n.2875A>G c.873A>G (p.Ser291=) | ClinVar dbSNP |
| 15 | g.48474264T>G | CA392319925 | FBN1 | c.4201A>C (p.Thr1401Pro) n.2875A>C c.873A>C (p.Ser291=) | |
| 15 | g.48474264T= | CA2175494975 | FBN1 | c.4201A= (p.Thr1401=) n.2875A= c.873A= (p.Ser291=) | |
| 15 | g.48474265G>A | CA490014695 | FBN1 | c.4200C>T (p.Phe1400=) n.2874C>T c.872C>T (p.Ser291Leu) | |
| 15 | g.48474265G>C | CA392319926 | FBN1 | c.4200C>G (p.Phe1400Leu) n.2874C>G c.872C>G (p.Ser291Ter) | gnomAD v4 |
| 15 | g.48474265G>T | CA392319927 | FBN1 | c.4200C>A (p.Phe1400Leu) n.2874C>A c.872C>A (p.Ser291Ter) | |
| 15 | g.48474265_48474288delinsGAAGCCATCACCTGTGTATCCTTC | CA2175494985 | FBN1 | c.4177_4200delinsGAAGGATACACAGGTGATGGCTTC (p.Glu1393=) n.2851_2874delinsGAAGGATACACAGGTGATGGCTTC c.849_872delinsGAAGGATACACAGGTGATGGCTTC (p.Arg283=) | |
| 15 | g.48474266A>C | CA392319929 | FBN1 | c.4199T>G (p.Phe1400Cys) n.2873T>G c.871T>G (p.Ser291Ala) | |
| 15 | g.48474266A>G | CA392319932 | FBN1 | c.4199T>C (p.Phe1400Ser) n.2873T>C c.871T>C (p.Ser291Pro) | |
| 15 | g.48474266A>T | CA392319934 | FBN1 | c.4199T>A (p.Phe1400Tyr) n.2873T>A c.871T>A (p.Ser291Thr) | |
| 15 | g.48474266_48474288del | CA891844498 | FBN1 | c.4177_4199del (p.Glu1393HisfsTer6) n.2851_2873del c.849_871del (p.Arg283SerfsTer?) | ClinVar dbSNP |
| 15 | g.48474267A= | CA2175495002 | FBN1 | c.4198T= (p.Phe1400=) n.2872T= c.870T= (p.Ala290=) | |
| 15 | g.48474267A>C | CA392319947 | FBN1 | c.4198T>G (p.Phe1400Val) n.2872T>G c.870T>G (p.Ala290=) | |
| 15 | g.48474267A>G | CA392319949 | FBN1 | c.4198T>C (p.Phe1400Leu) n.2872T>C c.870T>C (p.Ala290=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474267A>T | CA392319951 | FBN1 | c.4198T>A (p.Phe1400Ile) n.2872T>A c.870T>A (p.Ala290=) | |
| 15 | g.48474267_48474268delinsAG | CA2175494998 | FBN1 | c.4197_4198delinsCT (p.Gly1399=) n.2871_2872delinsCT c.869_870delinsCT (p.Ala290=) | |
| 15 | g.48474268del | CA353691 | FBN1 | c.4197del (p.Phe1400SerfsTer13) n.2871del c.869del (p.Ala290ValfsTer7) | ClinVar dbSNP |
| 15 | g.48474268G>A | CA052163 | FBN1 | c.4197C>T (p.Gly1399=) n.2871C>T c.869C>T (p.Ala290Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48474268G>C | CA490014708 | FBN1 | c.4197C>G (p.Gly1399=) n.2871C>G c.869C>G (p.Ala290Gly) | |
| 15 | g.48474268G= | CA2175495014 | FBN1 | c.4197C= (p.Gly1399=) n.2871C= c.869C= (p.Ala290=) | |
| 15 | g.48474268G>T | CA490014710 | FBN1 | c.4197C>A (p.Gly1399=) n.2871C>A c.869C>A (p.Ala290Asp) | |
| 15 | g.48474268_48474269insT | CA2580089708 | FBN1 | c.4196_4197insA (p.Phe1400LeufsTer7) n.2870_2871insA c.868_869insA (p.Ala290AspfsTer?) | ClinVar |
| 15 | g.48474269C>A | CA392319956 | FBN1 | c.4196G>T (p.Gly1399Val) n.2870G>T c.868G>T (p.Ala290Ser) | |
| 15 | g.48474269C= | CA2175495025 | FBN1 | c.4196G= (p.Gly1399=) n.2870G= c.868G= (p.Ala290=) | |
| 15 | g.48474269C>G | CA392319959 | FBN1 | c.4196G>C (p.Gly1399Ala) n.2870G>C c.868G>C (p.Ala290Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474269C>T | CA392319962 | FBN1 | c.4196G>A (p.Gly1399Asp) n.2870G>A c.868G>A (p.Ala290Thr) | ClinVar COSMIC |
| 15 | g.48474270C>A | CA392319972 | FBN1 | c.4195G>T (p.Gly1399Cys) n.2869G>T c.867G>T (p.Met289Ile) | |
| 15 | g.48474270C>G | CA392319969 | FBN1 | c.4195G>C (p.Gly1399Arg) n.2869G>C c.867G>C (p.Met289Ile) | |
| 15 | g.48474270C>T | CA392319967 | FBN1 | c.4195G>A (p.Gly1399Ser) n.2869G>A c.867G>A (p.Met289Ile) | |
| 15 | g.48474271A= | CA2175495031 | FBN1 | c.4194T= (p.Asp1398=) n.2868T= c.866T= (p.Met289=) | |
| 15 | g.48474271A>C | CA392319975 | FBN1 | c.4194T>G (p.Asp1398Glu) n.2868T>G c.866T>G (p.Met289Arg) | |
| 15 | g.48474271A>G | CA490014718 | FBN1 | c.4194T>C (p.Asp1398=) n.2868T>C c.866T>C (p.Met289Thr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474271A>T | CA392319977 | FBN1 | c.4194T>A (p.Asp1398Glu) n.2868T>A c.866T>A (p.Met289Lys) | |
| 15 | g.48474272T>A | CA392319981 | FBN1 | c.4193A>T (p.Asp1398Val) n.2867A>T c.865A>T (p.Met289Leu) | |
| 15 | g.48474272T>C | CA052158 | FBN1 | c.4193A>G (p.Asp1398Gly) n.2867A>G c.865A>G (p.Met289Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.48474272T>G | CA392319983 | FBN1 | c.4193A>C (p.Asp1398Ala) n.2867A>C c.865A>C (p.Met289Leu) | |
| 15 | g.48474272T= | CA2175495040 | FBN1 | c.4193A= (p.Asp1398=) n.2867A= c.865A= (p.Met289=) | |
| 15 | g.48474273C>A | CA392319985 | FBN1 | c.4192G>T (p.Asp1398Tyr) n.2866G>T c.864G>T (p.Val288=) | |
| 15 | g.48474273C= | CA2175495045 | FBN1 | c.4192G= (p.Asp1398=) n.2866G= c.864G= (p.Val288=) | |
| 15 | g.48474273C>G | CA392319990 | FBN1 | c.4192G>C (p.Asp1398His) n.2866G>C c.864G>C (p.Val288=) | |
| 15 | g.48474273C>T | CA392319987 | FBN1 | c.4192G>A (p.Asp1398Asn) n.2866G>A c.864G>A (p.Val288=) | ClinVar dbSNP |
| 15 | g.48474274A>C | CA490014722 | FBN1 | c.4191T>G (p.Gly1397=) n.2865T>G c.863T>G (p.Val288Gly) | |
| 15 | g.48474274A>G | CA490014723 | FBN1 | c.4191T>C (p.Gly1397=) n.2865T>C c.863T>C (p.Val288Ala) | ClinVar gnomAD v4 |
| 15 | g.48474274A>T | CA490014724 | FBN1 | c.4191T>A (p.Gly1397=) n.2865T>A c.863T>A (p.Val288Glu) | |
| 15 | g.48474274_48474275delinsAC | CA2175495047 | FBN1 | c.4190_4191delinsGT (p.Gly1397=) n.2864_2865delinsGT c.862_863delinsGT (p.Val288=) | |
| 15 | g.48474275C>A | CA052152 | FBN1 | c.4190G>T (p.Gly1397Val) n.2864G>T c.862G>T (p.Val288Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474275C= | CA2175495059 | FBN1 | c.4190G= (p.Gly1397=) n.2864G= c.862G= (p.Val288=) | |
| 15 | g.48474275C>G | CA052146 | FBN1 | c.4190G>C (p.Gly1397Ala) n.2864G>C c.862G>C (p.Val288Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474275C>T | CA392320000 | FBN1 | c.4190G>A (p.Gly1397Asp) n.2864G>A c.862G>A (p.Val288Met) | |
| 15 | g.48474276del | CA1139663887 | FBN1 | c.4190del (p.Gly1397ValfsTer16) n.2864del c.862del (p.Val288Ter) | ClinVar dbSNP |
| 15 | g.48474278_48474286del | CA2695220630 | FBN1 | c.4182_4190del (p.Tyr1395_Gly1397del) n.2856_2864del c.854_862del (p.Asp285_Gln287del) | |
| 15 | g.48474276C>A | CA392320001 | FBN1 | c.4189G>T (p.Gly1397Cys) n.2863G>T c.861G>T (p.Gln287His) | |
| 15 | g.48474276C>G | CA392320002 | FBN1 | c.4189G>C (p.Gly1397Arg) n.2863G>C c.861G>C (p.Gln287His) | |
| 15 | g.48474276C>T | CA392320003 | FBN1 | c.4189G>A (p.Gly1397Ser) n.2863G>A c.861G>A (p.Gln287=) | ClinVar gnomAD v4 |
| 15 | g.48474276_48474277delinsCT | CA2175495065 | FBN1 | c.4188_4189delinsAG (p.Thr1396=) n.2862_2863delinsAG c.860_861delinsAG (p.Gln287=) | |
| 15 | g.48474277del | CA658798357 | FBN1 | c.4188del (p.Gly1397ValfsTer16) n.2862del c.860del (p.Gln287ArgfsTer2) | ClinVar dbSNP |
| 15 | g.48474277T>A | CA490014732 | FBN1 | c.4188A>T (p.Thr1396=) n.2862A>T c.860A>T (p.Gln287Leu) | |
| 15 | g.48474277T>C | CA490014734 | FBN1 | c.4188A>G (p.Thr1396=) n.2862A>G c.860A>G (p.Gln287Arg) | |
| 15 | g.48474277T>G | CA490014730 | FBN1 | c.4188A>C (p.Thr1396=) n.2862A>C c.860A>C (p.Gln287Pro) | |
| 15 | g.48474278G>A | CA392320005 | FBN1 | c.4187C>T (p.Thr1396Ile) n.2861C>T c.859C>T (p.Gln287Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474278G>C | CA392320007 | FBN1 | c.4187C>G (p.Thr1396Arg) n.2861C>G c.859C>G (p.Gln287Glu) | |
| 15 | g.48474278G= | CA2175495078 | FBN1 | c.4187C= (p.Thr1396=) n.2861C= c.859C= (p.Gln287=) | |
| 15 | g.48474278G>T | CA392320011 | FBN1 | c.4187C>A (p.Thr1396Lys) n.2861C>A c.859C>A (p.Gln287Lys) | |
| 15 | g.48474279T>A | CA392320014 | FBN1 | c.4186A>T (p.Thr1396Ser) n.2860A>T c.858A>T (p.Thr286=) | |
| 15 | g.48474279T>C | CA392320017 | FBN1 | c.4186A>G (p.Thr1396Ala) n.2860A>G c.858A>G (p.Thr286=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474279T>G | CA392320019 | FBN1 | c.4186A>C (p.Thr1396Pro) n.2860A>C c.858A>C (p.Thr286=) | |
| 15 | g.48474279T= | CA2175495099 | FBN1 | c.4186A= (p.Thr1396=) n.2860A= c.858A= (p.Thr286=) | |
| 15 | g.48474280G>A | CA490014736 | FBN1 | c.4185C>T (p.Tyr1395=) n.2859C>T c.857C>T (p.Thr286Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48474280G>C | CA392320031 | FBN1 | c.4185C>G (p.Tyr1395Ter) n.2859C>G c.857C>G (p.Thr286Arg) | |
| 15 | g.48474280G= | CA2175495110 | FBN1 | c.4185C= (p.Tyr1395=) n.2859C= c.857C= (p.Thr286=) | |
| 15 | g.48474280G>T | CA392320028 | FBN1 | c.4185C>A (p.Tyr1395Ter) n.2859C>A c.857C>A (p.Thr286Lys) | |
| 15 | g.48474281T>A | CA392320034 | FBN1 | c.4184A>T (p.Tyr1395Phe) n.2858A>T c.856A>T (p.Thr286Ser) | |
| 15 | g.48474281T>C | CA392320036 | FBN1 | c.4184A>G (p.Tyr1395Cys) n.2858A>G c.856A>G (p.Thr286Ala) | COSMIC |
| 15 | g.48474281T>G | CA392320041 | FBN1 | c.4184A>C (p.Tyr1395Ser) n.2858A>C c.856A>C (p.Thr286Pro) | |
| 15 | g.48474282A= | CA2175495114 | FBN1 | c.4183T= (p.Tyr1395=) n.2857T= c.855T= (p.Asp285=) | |
| 15 | g.48474282A>C | CA392320044 | FBN1 | c.4183T>G (p.Tyr1395Asp) n.2857T>G c.855T>G (p.Asp285Glu) | |
| 15 | g.48474282A>G | CA392320048 | FBN1 | c.4183T>C (p.Tyr1395His) n.2857T>C c.855T>C (p.Asp285=) | ClinVar dbSNP |
| 15 | g.48474282A>T | CA392320050 | FBN1 | c.4183T>A (p.Tyr1395Asn) n.2857T>A c.855T>A (p.Asp285Glu) | |
| 15 | g.48474283T>A | CA490014741 | FBN1 | c.4182A>T (p.Gly1394=) n.2856A>T c.854A>T (p.Asp285Val) | |
| 15 | g.48474283T>C | CA490014742 | FBN1 | c.4182A>G (p.Gly1394=) n.2856A>G c.854A>G (p.Asp285Gly) | |
| 15 | g.48474283T>G | CA490014743 | FBN1 | c.4182A>C (p.Gly1394=) n.2856A>C c.854A>C (p.Asp285Ala) | |
| 15 | g.48474288_48474291del | CA2580613819 | FBN1 | c.4179_4182del (p.Glu1393AspfsTer19) n.2853_2856del c.851_854del (p.Lys284IlefsTer4) | ClinVar |
| 15 | g.48474284C>A | CA392320054 | FBN1 | c.4181G>T (p.Gly1394Val) n.2855G>T c.853G>T (p.Asp285Tyr) | COSMIC |
| 15 | g.48474284C>G | CA392320061 | FBN1 | c.4181G>C (p.Gly1394Ala) n.2855G>C c.853G>C (p.Asp285His) | |
| 15 | g.48474284C>T | CA392320063 | FBN1 | c.4181G>A (p.Gly1394Glu) n.2855G>A c.853G>A (p.Asp285Asn) | gnomAD v4 |
| 15 | g.48474285C>A | CA392320069 | FBN1 | c.4180G>T (p.Gly1394Ter) n.2854G>T c.852G>T (p.Lys284Asn) | ClinVar dbSNP |
| 15 | g.48474285C>G | CA392320071 | FBN1 | c.4180G>C (p.Gly1394Arg) n.2854G>C c.852G>C (p.Lys284Asn) | |
| 15 | g.48474285C>T | CA392320073 | FBN1 | c.4180G>A (p.Gly1394Arg) n.2854G>A c.852G>A (p.Lys284=) | |
| 15 | g.48474286T>A | CA392320075 | FBN1 | c.4179A>T (p.Glu1393Asp) n.2853A>T c.851A>T (p.Lys284Met) | |
| 15 | g.48474286T>C | CA490014747 | FBN1 | c.4179A>G (p.Glu1393=) n.2853A>G c.851A>G (p.Lys284Arg) | ClinVar dbSNP |
| 15 | g.48474286T>G | CA392320076 | FBN1 | c.4179A>C (p.Glu1393Asp) n.2853A>C c.851A>C (p.Lys284Thr) | |
| 15 | g.48474286T= | CA2175495119 | FBN1 | c.4179A= (p.Glu1393=) n.2853A= c.851A= (p.Lys284=) | |
| 15 | g.48474287T>A | CA392320078 | FBN1 | c.4178A>T (p.Glu1393Val) n.2852A>T c.850A>T (p.Lys284Ter) | |
| 15 | g.48474287T>C | CA392320079 | FBN1 | c.4178A>G (p.Glu1393Gly) n.2852A>G c.850A>G (p.Lys284Glu) | |
| 15 | g.48474287T>G | CA392320082 | FBN1 | c.4178A>C (p.Glu1393Ala) n.2852A>C c.850A>C (p.Lys284Gln) | |
| 15 | g.48474287_48474288delinsTC | CA2175495124 | FBN1 | c.4177_4178delinsGA (p.Glu1393=) n.2851_2852delinsGA c.849_850delinsGA (p.Arg283=) | |
| 15 | g.48474288C>A | CA392320084 | FBN1 | c.4177G>T (p.Glu1393Ter) n.2851G>T c.849G>T (p.Arg283Ser) | |
| 15 | g.48474288C>G | CA392320087 | FBN1 | c.4177G>C (p.Glu1393Gln) n.2851G>C c.849G>C (p.Arg283Ser) | |
| 15 | g.48474288C>T | CA392320089 | FBN1 | c.4177G>A (p.Glu1393Lys) n.2851G>A c.849G>A (p.Arg283=) | |
| 15 | g.48474289del | CA916082395 | FBN1 | c.4177del (p.Glu1393LysfsTer20) n.2851del c.849del (p.Lys284ArgfsTer5) | ClinVar dbSNP |
| 15 | g.48474289C>A | CA392320092 | FBN1 | c.4176G>T (p.Lys1392Asn) n.2850G>T c.848G>T (p.Arg283Met) | |
| 15 | g.48474289C= | CA2175495138 | FBN1 | c.4176G= (p.Lys1392=) n.2850G= c.848G= (p.Arg283=) | |
| 15 | g.48474289C>G | CA392320095 | FBN1 | c.4176G>C (p.Lys1392Asn) n.2850G>C c.848G>C (p.Arg283Thr) | |
| 15 | g.48474289C>T | CA052142 | FBN1 | c.4176G>A (p.Lys1392=) n.2850G>A c.848G>A (p.Arg283Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48474290T>A | CA392320101 | FBN1 | c.4175A>T (p.Lys1392Met) n.2849A>T c.847A>T (p.Arg283Trp) | |
| 15 | g.48474290T>C | CA392320104 | FBN1 | c.4175A>G (p.Lys1392Arg) n.2849A>G c.847A>G (p.Arg283Gly) | |
| 15 | g.48474290T>G | CA392320106 | FBN1 | c.4175A>C (p.Lys1392Thr) n.2849A>C c.847A>C (p.Arg283=) | |
| 15 | g.48474291T>A | CA392320114 | FBN1 | c.4174A>T (p.Lys1392Ter) n.2848A>T c.846A>T (p.Ala282=) | |
| 15 | g.48474291T>C | CA269520388 | FBN1 | c.4174A>G (p.Lys1392Glu) n.2848A>G c.846A>G (p.Ala282=) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48474291T>G | CA392320110 | FBN1 | c.4174A>C (p.Lys1392Gln) n.2848A>C c.846A>C (p.Ala282=) | COSMIC |
| 15 | g.48474291T= | CA2175495147 | FBN1 | c.4174A= (p.Lys1392=) n.2848A= c.846A= (p.Ala282=) | |
| 15 | g.48474292G>A | CA490014760 | FBN1 | c.4173C>T (p.Cys1391=) n.2847C>T c.845C>T (p.Ala282Val) | |
| 15 | g.48474292G>C | CA392320117 | FBN1 | c.4173C>G (p.Cys1391Trp) n.2847C>G c.845C>G (p.Ala282Gly) | |
| 15 | g.48474292G>T | CA392320121 | FBN1 | c.4173C>A (p.Cys1391Ter) n.2847C>A c.845C>A (p.Ala282Glu) | |
| 15 | g.48474293C>A | CA392320125 | FBN1 | c.4172G>T (p.Cys1391Phe) n.2846G>T c.844G>T (p.Ala282Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474293C= | CA2175495163 | FBN1 | c.4172G= (p.Cys1391=) n.2846G= c.844G= (p.Ala282=) | |
| 15 | g.48474293C>G | CA392320128 | FBN1 | c.4172G>C (p.Cys1391Ser) n.2846G>C c.844G>C (p.Ala282Pro) | |
| 15 | g.48474293C>T | CA392320130 | FBN1 | c.4172G>A (p.Cys1391Tyr) n.2846G>A c.844G>A (p.Ala282Thr) | ClinVar dbSNP |
| 15 | g.48474293_48474297delinsCACAG | CA2175495158 | FBN1 | c.4168_4172delinsCTGTG (p.Leu1390=) n.2842_2846delinsCTGTG c.840_844delinsCTGTG (p.Val280=) | |
| 15 | g.48474294A>C | CA392320134 | FBN1 | c.4171T>G (p.Cys1391Gly) n.2845T>G c.843T>G (p.Cys281Trp) | |
| 15 | g.48474294A>G | CA392320135 | FBN1 | c.4171T>C (p.Cys1391Arg) n.2845T>C c.843T>C (p.Cys281=) | |
| 15 | g.48474294A>T | CA392320137 | FBN1 | c.4171T>A (p.Cys1391Ser) n.2845T>A c.843T>A (p.Cys281Ter) | |
| 15 | g.48474298_48474301del | CA658798358 | FBN1 | c.4168_4171del (p.Leu1390AlafsTer22) n.2842_2845del c.840_843del (p.Cys281GlnfsTer7) | ClinVar dbSNP |
| 15 | g.48474295C>A | CA490014766 | FBN1 | c.4170G>T (p.Leu1390=) n.2844G>T c.842G>T (p.Cys281Phe) | |
| 15 | g.48474295C= | CA2175495184 | FBN1 | c.4170G= (p.Leu1390=) n.2844G= c.842G= (p.Cys281=) | |
| 15 | g.48474295C>G | CA490014767 | FBN1 | c.4170G>C (p.Leu1390=) n.2844G>C c.842G>C (p.Cys281Ser) | |
| 15 | g.48474295C>T | CA490014768 | FBN1 | c.4170G>A (p.Leu1390=) n.2844G>A c.842G>A (p.Cys281Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48474296A>C | CA392320141 | FBN1 | c.4169T>G (p.Leu1390Arg) n.2843T>G c.841T>G (p.Cys281Gly) | |
| 15 | g.48474296A>G | CA392320143 | FBN1 | c.4169T>C (p.Leu1390Pro) n.2843T>C c.841T>C (p.Cys281Arg) | |
| 15 | g.48474296A>T | CA392320145 | FBN1 | c.4169T>A (p.Leu1390Gln) n.2843T>A c.841T>A (p.Cys281Ser) | |
| 15 | g.48474297G>A | CA490014769 | FBN1 | c.4168C>T (p.Leu1390=) n.2842C>T c.840C>T (p.Val280=) | |
| 15 | g.48474297G>C | CA392320147 | FBN1 | c.4168C>G (p.Leu1390Val) n.2842C>G c.840C>G (p.Val280=) | |
| 15 | g.48474297G>T | CA392320149 | FBN1 | c.4168C>A (p.Leu1390Met) n.2842C>A c.840C>A (p.Val280=) | |
| 15 | g.48474298A>C | CA392320152 | FBN1 | c.4167T>G (p.Cys1389Trp) n.2841T>G c.839T>G (p.Val280Gly) | |
| 15 | g.48474298A>G | CA490014773 | FBN1 | c.4167T>C (p.Cys1389=) n.2841T>C c.839T>C (p.Val280Ala) | |
| 15 | g.48474298A>T | CA392320154 | FBN1 | c.4167T>A (p.Cys1389Ter) n.2841T>A c.839T>A (p.Val280Asp) | |
| 15 | g.48474299C>A | CA392320157 | FBN1 | c.4166G>T (p.Cys1389Phe) n.2840G>T c.838G>T (p.Val280Phe) | |
| 15 | g.48474299C= | CA2175495190 | FBN1 | c.4166G= (p.Cys1389=) n.2840G= c.838G= (p.Val280=) | |
| 15 | g.48474299C>G | CA16614806 | FBN1 | c.4166G>C (p.Cys1389Ser) n.2840G>C c.838G>C (p.Val280Leu) | ClinVar dbSNP |
| 15 | g.48474299C>T | CA392320159 | FBN1 | c.4166G>A (p.Cys1389Tyr) n.2840G>A c.838G>A (p.Val280Ile) | 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 |