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 |
|---|---|---|---|---|---|
| 5 | g.128300806G>A | CA562717113 | FBN2 | n.2950+11C>T n.2869+11C>T c.6166+11C>T (n.6166+11C>T) c.6163+11C>T (n.6163+11C>T) c.6013+11C>T (n.6013+11C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128300806G= | CA1581253445 | FBN2 | n.2950+11C= n.2869+11C= c.6166+11C= (n.6166+11C=) c.6163+11C= (n.6163+11C=) c.6013+11C= (n.6013+11C=) | |
| 5 | g.128300808_128300809dup | CA2578395893 | FBN2 | n.2950+8_2950+9dup n.2869+8_2869+9dup c.6166+8_6166+9dup (n.6166+8_6166+9dup) c.6163+8_6163+9dup (n.6163+8_6163+9dup) c.6013+8_6013+9dup (n.6013+8_6013+9dup) | |
| 5 | g.128300809A= | CA1581253446 | FBN2 | n.2950+8T= n.2869+8T= c.6166+8T= (n.6166+8T=) c.6163+8T= (n.6163+8T=) c.6013+8T= (n.6013+8T=) | |
| 5 | g.128300809A>G | CA562717114 | FBN2 | n.2950+8T>C n.2869+8T>C c.6166+8T>C (n.6166+8T>C) c.6163+8T>C (n.6163+8T>C) c.6013+8T>C (n.6013+8T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128300810C= | CA1581253447 | FBN2 | n.2950+7G= n.2869+7G= c.6166+7G= (n.6166+7G=) c.6163+7G= (n.6163+7G=) c.6013+7G= (n.6013+7G=) | |
| 5 | g.128300810C>G | CA2768335080 | FBN2 | n.2950+7G>C n.2869+7G>C c.6166+7G>C (n.6166+7G>C) c.6163+7G>C (n.6163+7G>C) c.6013+7G>C (n.6013+7G>C) | |
| 5 | g.128300810C>T | CA562717115 | FBN2 | n.2950+7G>A n.2869+7G>A c.6166+7G>A (n.6166+7G>A) c.6163+7G>A (n.6163+7G>A) c.6013+7G>A (n.6013+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128300811T>A | CA2768335081 | FBN2 | n.2950+6A>T n.2869+6A>T c.6166+6A>T (n.6166+6A>T) c.6163+6A>T (n.6163+6A>T) c.6013+6A>T (n.6013+6A>T) | |
| 5 | g.128300811T>C | CA2675114093 | FBN2 | n.2950+6A>G n.2869+6A>G c.6166+6A>G (n.6166+6A>G) c.6163+6A>G (n.6163+6A>G) c.6013+6A>G (n.6013+6A>G) | gnomAD v4 |
| 5 | g.128300812C= | CA1581253448 | FBN2 | n.2950+5G= n.2869+5G= c.6166+5G= (n.6166+5G=) c.6163+5G= (n.6163+5G=) c.6013+5G= (n.6013+5G=) | |
| 5 | g.128300812C>T | CA3394491 | FBN2 | n.2950+5G>A n.2869+5G>A c.6166+5G>A (n.6166+5G>A) c.6163+5G>A (n.6163+5G>A) c.6013+5G>A (n.6013+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300813T>C | CA1081357901 | FBN2 | n.2950+4A>G n.2869+4A>G c.6166+4A>G (n.6166+4A>G) c.6163+4A>G (n.6163+4A>G) c.6013+4A>G (n.6013+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128300813T= | CA1581253449 | FBN2 | n.2950+4A= n.2869+4A= c.6166+4A= (n.6166+4A=) c.6163+4A= (n.6163+4A=) c.6013+4A= (n.6013+4A=) | |
| 5 | g.128300814T>C | CA127043141 | FBN2 | n.2950+3A>G n.2869+3A>G c.6166+3A>G (n.6166+3A>G) c.6163+3A>G (n.6163+3A>G) c.6013+3A>G (n.6013+3A>G) | dbSNP |
| 5 | g.128300814T= | CA1581253450 | FBN2 | n.2950+3A= n.2869+3A= c.6166+3A= (n.6166+3A=) c.6163+3A= (n.6163+3A=) c.6013+3A= (n.6013+3A=) | |
| 5 | g.128300815A>C | CA360766128 | FBN2 | n.2950+2T>G n.2869+2T>G c.6166+2T>G (n.6166+2T>G) c.6163+2T>G (n.6163+2T>G) c.6013+2T>G (n.6013+2T>G) | |
| 5 | g.128300815A>G | CA360766130 | FBN2 | n.2950+2T>C n.2869+2T>C c.6166+2T>C (n.6166+2T>C) c.6163+2T>C (n.6163+2T>C) c.6013+2T>C (n.6013+2T>C) | |
| 5 | g.128300815A>T | CA360766132 | FBN2 | n.2950+2T>A n.2869+2T>A c.6166+2T>A (n.6166+2T>A) c.6163+2T>A (n.6163+2T>A) c.6013+2T>A (n.6013+2T>A) | |
| 5 | g.128300816C>A | CA360766134 | FBN2 | n.2950+1G>T n.2869+1G>T c.6166+1G>T (n.6166+1G>T) c.6163+1G>T (n.6163+1G>T) c.6013+1G>T (n.6013+1G>T) | |
| 5 | g.128300816C>G | CA360766136 | FBN2 | n.2950+1G>C n.2869+1G>C c.6166+1G>C (n.6166+1G>C) c.6163+1G>C (n.6163+1G>C) c.6013+1G>C (n.6013+1G>C) | |
| 5 | g.128300816C>T | CA360766137 | FBN2 | n.2950+1G>A n.2869+1G>A c.6166+1G>A (n.6166+1G>A) c.6163+1G>A (n.6163+1G>A) c.6013+1G>A (n.6013+1G>A) | |
| 5 | g.128300817C>A | CA360766142 | FBN2 | n.2950G>T n.2869G>T c.6166G>T (p.Asp2056Tyr) c.6163G>T (p.Asp2055Tyr) c.6013G>T (p.Asp2005Tyr) | |
| 5 | g.128300817C>G | CA360766138 | FBN2 | n.2950G>C n.2869G>C c.6166G>C (p.Asp2056His) c.6163G>C (p.Asp2055His) c.6013G>C (p.Asp2005His) | |
| 5 | g.128300817C>T | CA360766140 | FBN2 | n.2950G>A n.2869G>A c.6166G>A (p.Asp2056Asn) c.6163G>A (p.Asp2055Asn) c.6013G>A (p.Asp2005Asn) | |
| 5 | g.128300818A= | CA1581253451 | FBN2 | n.2949T= n.2868T= c.6165T= (p.Ile2055=) c.6162T= (p.Ile2054=) c.6012T= (p.Ile2004=) | |
| 5 | g.128300818A>C | CA360766143 | FBN2 | n.2949T>G n.2868T>G c.6165T>G (p.Ile2055Met) c.6162T>G (p.Ile2054Met) c.6012T>G (p.Ile2004Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300818A>G | CA446309186 | FBN2 | n.2949T>C n.2868T>C c.6165T>C (p.Ile2055=) c.6162T>C (p.Ile2054=) c.6012T>C (p.Ile2004=) | |
| 5 | g.128300818A>T | CA446309187 | FBN2 | n.2949T>A n.2868T>A c.6165T>A (p.Ile2055=) c.6162T>A (p.Ile2054=) c.6012T>A (p.Ile2004=) | |
| 5 | g.128300819A>C | CA360766144 | FBN2 | n.2948T>G n.2867T>G c.6164T>G (p.Ile2055Ser) c.6161T>G (p.Ile2054Ser) c.6011T>G (p.Ile2004Ser) | |
| 5 | g.128300819A>G | CA360766146 | FBN2 | n.2948T>C n.2867T>C c.6164T>C (p.Ile2055Thr) c.6161T>C (p.Ile2054Thr) c.6011T>C (p.Ile2004Thr) | |
| 5 | g.128300819A>T | CA360766149 | FBN2 | n.2948T>A n.2867T>A c.6164T>A (p.Ile2055Asn) c.6161T>A (p.Ile2054Asn) c.6011T>A (p.Ile2004Asn) | |
| 5 | g.128300820T>A | CA360766151 | FBN2 | n.2947A>T n.2866A>T c.6163A>T (p.Ile2055Phe) c.6160A>T (p.Ile2054Phe) c.6010A>T (p.Ile2004Phe) | |
| 5 | g.128300820T>C | CA360766152 | FBN2 | n.2947A>G n.2866A>G c.6163A>G (p.Ile2055Val) c.6160A>G (p.Ile2054Val) c.6010A>G (p.Ile2004Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128300820T>G | CA360766154 | FBN2 | n.2947A>C n.2866A>C c.6163A>C (p.Ile2055Leu) c.6160A>C (p.Ile2054Leu) c.6010A>C (p.Ile2004Leu) | |
| 5 | g.128300820T= | CA1581253452 | FBN2 | n.2947A= n.2866A= c.6163A= (p.Ile2055=) c.6160A= (p.Ile2054=) c.6010A= (p.Ile2004=) | |
| 5 | g.128300821G>A | CA446309191 | FBN2 | n.2946C>T n.2865C>T c.6162C>T (p.Cys2054=) c.6159C>T (p.Cys2053=) c.6009C>T (p.Cys2003=) | dbSNP gnomAD v4 |
| 5 | g.128300821G>C | CA360766156 | FBN2 | n.2946C>G n.2865C>G c.6162C>G (p.Cys2054Trp) c.6159C>G (p.Cys2053Trp) c.6009C>G (p.Cys2003Trp) | |
| 5 | g.128300821G= | CA1581253453 | FBN2 | n.2946C= n.2865C= c.6162C= (p.Cys2054=) c.6159C= (p.Cys2053=) c.6009C= (p.Cys2003=) | |
| 5 | g.128300821G>T | CA360766158 | FBN2 | n.2946C>A n.2865C>A c.6162C>A (p.Cys2054Ter) c.6159C>A (p.Cys2053Ter) c.6009C>A (p.Cys2003Ter) | |
| 5 | g.128300822C>A | CA360766160 | FBN2 | n.2945G>T n.2864G>T c.6161G>T (p.Cys2054Phe) c.6158G>T (p.Cys2053Phe) c.6008G>T (p.Cys2003Phe) | |
| 5 | g.128300822C>G | CA360766161 | FBN2 | n.2945G>C n.2864G>C c.6161G>C (p.Cys2054Ser) c.6158G>C (p.Cys2053Ser) c.6008G>C (p.Cys2003Ser) | |
| 5 | g.128300822C>T | CA360766162 | FBN2 | n.2945G>A n.2864G>A c.6161G>A (p.Cys2054Tyr) c.6158G>A (p.Cys2053Tyr) c.6008G>A (p.Cys2003Tyr) | |
| 5 | g.128300823A>C | CA360766165 | FBN2 | n.2944T>G n.2863T>G c.6160T>G (p.Cys2054Gly) c.6157T>G (p.Cys2053Gly) c.6007T>G (p.Cys2003Gly) | |
| 5 | g.128300823A>G | CA360766168 | FBN2 | n.2944T>C n.2863T>C c.6160T>C (p.Cys2054Arg) c.6157T>C (p.Cys2053Arg) c.6007T>C (p.Cys2003Arg) | |
| 5 | g.128300823A>T | CA360766167 | FBN2 | n.2944T>A n.2863T>A c.6160T>A (p.Cys2054Ser) c.6157T>A (p.Cys2053Ser) c.6007T>A (p.Cys2003Ser) | ClinVar |
| 5 | g.128300824G>A | CA446309193 | FBN2 | n.2943C>T n.2862C>T c.6159C>T (p.Asn2053=) c.6156C>T (p.Asn2052=) c.6006C>T (p.Asn2002=) | |
| 5 | g.128300824G>C | CA360766171 | FBN2 | n.2943C>G n.2862C>G c.6159C>G (p.Asn2053Lys) c.6156C>G (p.Asn2052Lys) c.6006C>G (p.Asn2002Lys) | |
| 5 | g.128300824G>T | CA360766173 | FBN2 | n.2943C>A n.2862C>A c.6159C>A (p.Asn2053Lys) c.6156C>A (p.Asn2052Lys) c.6006C>A (p.Asn2002Lys) | |
| 5 | g.128300825T>A | CA360766176 | FBN2 | n.2942A>T n.2861A>T c.6158A>T (p.Asn2053Ile) c.6155A>T (p.Asn2052Ile) c.6005A>T (p.Asn2002Ile) | |
| 5 | g.128300825T>C | CA360766178 | FBN2 | n.2942A>G n.2861A>G c.6158A>G (p.Asn2053Ser) c.6155A>G (p.Asn2052Ser) c.6005A>G (p.Asn2002Ser) | gnomAD v4 |
| 5 | g.128300825T>G | CA360766180 | FBN2 | n.2942A>C n.2861A>C c.6158A>C (p.Asn2053Thr) c.6155A>C (p.Asn2052Thr) c.6005A>C (p.Asn2002Thr) | |
| 5 | g.128300826T>A | CA360766182 | FBN2 | n.2941A>T n.2860A>T c.6157A>T (p.Asn2053Tyr) c.6154A>T (p.Asn2052Tyr) c.6004A>T (p.Asn2002Tyr) | |
| 5 | g.128300826T>C | CA360766184 | FBN2 | n.2941A>G n.2860A>G c.6157A>G (p.Asn2053Asp) c.6154A>G (p.Asn2052Asp) c.6004A>G (p.Asn2002Asp) | |
| 5 | g.128300826T>G | CA360766186 | FBN2 | n.2941A>C n.2860A>C c.6157A>C (p.Asn2053His) c.6154A>C (p.Asn2052His) c.6004A>C (p.Asn2002His) | gnomAD v4 |
| 5 | g.128300827C>A | CA360766188 | FBN2 | n.2940G>T n.2859G>T c.6156G>T (p.Glu2052Asp) c.6153G>T (p.Glu2051Asp) c.6003G>T (p.Glu2001Asp) | gnomAD v4 |
| 5 | g.128300827C>G | CA360766190 | FBN2 | n.2940G>C n.2859G>C c.6156G>C (p.Glu2052Asp) c.6153G>C (p.Glu2051Asp) c.6003G>C (p.Glu2001Asp) | |
| 5 | g.128300827C>T | CA446309196 | FBN2 | n.2940G>A n.2859G>A c.6156G>A (p.Glu2052=) c.6153G>A (p.Glu2051=) c.6003G>A (p.Glu2001=) | |
| 5 | g.128300828T>A | CA360766192 | FBN2 | n.2939A>T n.2858A>T c.6155A>T (p.Glu2052Val) c.6152A>T (p.Glu2051Val) c.6002A>T (p.Glu2001Val) | |
| 5 | g.128300828T>C | CA360766194 | FBN2 | n.2939A>G n.2858A>G c.6155A>G (p.Glu2052Gly) c.6152A>G (p.Glu2051Gly) c.6002A>G (p.Glu2001Gly) | |
| 5 | g.128300828T>G | CA360766196 | FBN2 | n.2939A>C n.2858A>C c.6155A>C (p.Glu2052Ala) c.6152A>C (p.Glu2051Ala) c.6002A>C (p.Glu2001Ala) | |
| 5 | g.128300829C>A | CA360766197 | FBN2 | n.2938G>T n.2857G>T c.6154G>T (p.Glu2052Ter) c.6151G>T (p.Glu2051Ter) c.6001G>T (p.Glu2001Ter) | |
| 5 | g.128300829C= | CA1581253454 | FBN2 | n.2938G= n.2857G= c.6154G= (p.Glu2052=) c.6151G= (p.Glu2051=) c.6001G= (p.Glu2001=) | |
| 5 | g.128300829C>G | CA360766201 | FBN2 | n.2938G>C n.2857G>C c.6154G>C (p.Glu2052Gln) c.6151G>C (p.Glu2051Gln) c.6001G>C (p.Glu2001Gln) | COSMIC COSMIC |
| 5 | g.128300829C>T | CA3394492 | FBN2 | n.2938G>A n.2857G>A c.6154G>A (p.Glu2052Lys) c.6151G>A (p.Glu2051Lys) c.6001G>A (p.Glu2001Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300830G>A | CA127043151 | FBN2 | n.2937C>T n.2856C>T c.6153C>T (p.Ser2051=) c.6150C>T (p.Ser2050=) c.6000C>T (p.Ser2000=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300830G>C | CA360766204 | FBN2 | n.2937C>G n.2856C>G c.6153C>G (p.Ser2051Arg) c.6150C>G (p.Ser2050Arg) c.6000C>G (p.Ser2000Arg) | |
| 5 | g.128300830G= | CA1581253455 | FBN2 | n.2937C= n.2856C= c.6153C= (p.Ser2051=) c.6150C= (p.Ser2050=) c.6000C= (p.Ser2000=) | |
| 5 | g.128300830G>T | CA360766205 | FBN2 | n.2937C>A n.2856C>A c.6153C>A (p.Ser2051Arg) c.6150C>A (p.Ser2050Arg) c.6000C>A (p.Ser2000Arg) | |
| 5 | g.128300831C>A | CA360766208 | FBN2 | n.2936G>T n.2855G>T c.6152G>T (p.Ser2051Ile) c.6149G>T (p.Ser2050Ile) c.5999G>T (p.Ser2000Ile) | ClinVar |
| 5 | g.128300831C>G | CA360766210 | FBN2 | n.2936G>C n.2855G>C c.6152G>C (p.Ser2051Thr) c.6149G>C (p.Ser2050Thr) c.5999G>C (p.Ser2000Thr) | |
| 5 | g.128300831C>T | CA360766212 | FBN2 | n.2936G>A n.2855G>A c.6152G>A (p.Ser2051Asn) c.6149G>A (p.Ser2050Asn) c.5999G>A (p.Ser2000Asn) | gnomAD v4 |
| 5 | g.128300832T>A | CA360766214 | FBN2 | n.2935A>T n.2854A>T c.6151A>T (p.Ser2051Cys) c.6148A>T (p.Ser2050Cys) c.5998A>T (p.Ser2000Cys) | |
| 5 | g.128300832T>C | CA360766216 | FBN2 | n.2935A>G n.2854A>G c.6151A>G (p.Ser2051Gly) c.6148A>G (p.Ser2050Gly) c.5998A>G (p.Ser2000Gly) | |
| 5 | g.128300832T>G | CA360766218 | FBN2 | n.2935A>C n.2854A>C c.6151A>C (p.Ser2051Arg) c.6148A>C (p.Ser2050Arg) c.5998A>C (p.Ser2000Arg) | |
| 5 | g.128300833T>A | CA360766220 | FBN2 | n.2934A>T n.2853A>T c.6150A>T (p.Lys2050Asn) c.6147A>T (p.Lys2049Asn) c.5997A>T (p.Lys1999Asn) | |
| 5 | g.128300833T>C | CA446309201 | FBN2 | n.2934A>G n.2853A>G c.6150A>G (p.Lys2050=) c.6147A>G (p.Lys2049=) c.5997A>G (p.Lys1999=) | |
| 5 | g.128300833T>G | CA360766222 | FBN2 | n.2934A>C n.2853A>C c.6150A>C (p.Lys2050Asn) c.6147A>C (p.Lys2049Asn) c.5997A>C (p.Lys1999Asn) | |
| 5 | g.128300834T>A | CA360766228 | FBN2 | n.2933A>T n.2852A>T c.6149A>T (p.Lys2050Ile) c.6146A>T (p.Lys2049Ile) c.5996A>T (p.Lys1999Ile) | |
| 5 | g.128300834T>C | CA360766227 | FBN2 | n.2933A>G n.2852A>G c.6149A>G (p.Lys2050Arg) c.6146A>G (p.Lys2049Arg) c.5996A>G (p.Lys1999Arg) | |
| 5 | g.128300834T>G | CA360766225 | FBN2 | n.2933A>C n.2852A>C c.6149A>C (p.Lys2050Thr) c.6146A>C (p.Lys2049Thr) c.5996A>C (p.Lys1999Thr) | |
| 5 | g.128300835T>A | CA360766229 | FBN2 | n.2932A>T n.2851A>T c.6148A>T (p.Lys2050Ter) c.6145A>T (p.Lys2049Ter) c.5995A>T (p.Lys1999Ter) | |
| 5 | g.128300835T>C | CA321840 | FBN2 | n.2932A>G n.2851A>G c.6148A>G (p.Lys2050Glu) c.6145A>G (p.Lys2049Glu) c.5995A>G (p.Lys1999Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128300835T>G | CA360766234 | FBN2 | n.2932A>C n.2851A>C c.6148A>C (p.Lys2050Gln) c.6145A>C (p.Lys2049Gln) c.5995A>C (p.Lys1999Gln) | |
| 5 | g.128300835T= | CA1581253456 | FBN2 | n.2932A= n.2851A= c.6148A= (p.Lys2050=) c.6145A= (p.Lys2049=) c.5995A= (p.Lys1999=) | |
| 5 | g.128300836T>A | CA446309203 | FBN2 | n.2931A>T n.2850A>T c.6147A>T (p.Val2049=) c.6144A>T (p.Val2048=) c.5994A>T (p.Val1998=) | |
| 5 | g.128300836T>C | CA446309204 | FBN2 | n.2931A>G n.2850A>G c.6147A>G (p.Val2049=) c.6144A>G (p.Val2048=) c.5994A>G (p.Val1998=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128300836T>G | CA446309205 | FBN2 | n.2931A>C n.2850A>C c.6147A>C (p.Val2049=) c.6144A>C (p.Val2048=) c.5994A>C (p.Val1998=) | gnomAD v4 |
| 5 | g.128300836T= | CA1581253457 | FBN2 | n.2931A= n.2850A= c.6147A= (p.Val2049=) c.6144A= (p.Val2048=) c.5994A= (p.Val1998=) | |
| 5 | g.128300837A= | CA1581253458 | FBN2 | n.2930T= n.2849T= c.6146T= (p.Val2049=) c.6143T= (p.Val2048=) c.5993T= (p.Val1998=) | |
| 5 | g.128300837A>C | CA360766236 | FBN2 | n.2930T>G n.2849T>G c.6146T>G (p.Val2049Gly) c.6143T>G (p.Val2048Gly) c.5993T>G (p.Val1998Gly) | |
| 5 | g.128300837A>G | CA360766237 | FBN2 | n.2930T>C n.2849T>C c.6146T>C (p.Val2049Ala) c.6143T>C (p.Val2048Ala) c.5993T>C (p.Val1998Ala) | dbSNP |
| 5 | g.128300837A>T | CA360766239 | FBN2 | n.2930T>A n.2849T>A c.6146T>A (p.Val2049Glu) c.6143T>A (p.Val2048Glu) c.5993T>A (p.Val1998Glu) | |
| 5 | g.128300838C>A | CA360766240 | FBN2 | n.2929G>T n.2848G>T c.6145G>T (p.Val2049Leu) c.6142G>T (p.Val2048Leu) c.5992G>T (p.Val1998Leu) | |
| 5 | g.128300838C= | CA1581253459 | FBN2 | n.2929G= n.2848G= c.6145G= (p.Val2049=) c.6142G= (p.Val2048=) c.5992G= (p.Val1998=) | |
| 5 | g.128300838C>G | CA3394493 | FBN2 | n.2929G>C n.2848G>C c.6145G>C (p.Val2049Leu) c.6142G>C (p.Val2048Leu) c.5992G>C (p.Val1998Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300838C>T | CA360766243 | FBN2 | n.2929G>A n.2848G>A c.6145G>A (p.Val2049Ile) c.6142G>A (p.Val2048Ile) c.5992G>A (p.Val1998Ile) | |
| 5 | g.128300839T>A | CA360766245 | FBN2 | n.2928A>T n.2847A>T c.6144A>T (p.Glu2048Asp) c.6141A>T (p.Glu2047Asp) c.5991A>T (p.Glu1997Asp) | |
| 5 | g.128300839T>C | CA446309209 | FBN2 | n.2928A>G n.2847A>G c.6144A>G (p.Glu2048=) c.6141A>G (p.Glu2047=) c.5991A>G (p.Glu1997=) | |
| 5 | g.128300839T>G | CA360766247 | FBN2 | n.2928A>C n.2847A>C c.6144A>C (p.Glu2048Asp) c.6141A>C (p.Glu2047Asp) c.5991A>C (p.Glu1997Asp) | |
| 5 | g.128300840T>A | CA360766249 | FBN2 | n.2927A>T n.2846A>T c.6143A>T (p.Glu2048Val) c.6140A>T (p.Glu2047Val) c.5990A>T (p.Glu1997Val) | |
| 5 | g.128300840T>C | CA360766252 | FBN2 | n.2927A>G n.2846A>G c.6143A>G (p.Glu2048Gly) c.6140A>G (p.Glu2047Gly) c.5990A>G (p.Glu1997Gly) | |
| 5 | g.128300840T>G | CA360766253 | FBN2 | n.2927A>C n.2846A>C c.6143A>C (p.Glu2048Ala) c.6140A>C (p.Glu2047Ala) c.5990A>C (p.Glu1997Ala) | |
| 5 | g.128300841C>A | CA360766259 | FBN2 | n.2926G>T n.2845G>T c.6142G>T (p.Glu2048Ter) c.6139G>T (p.Glu2047Ter) c.5989G>T (p.Glu1997Ter) | |
| 5 | g.128300841C= | CA1581253460 | FBN2 | n.2926G= n.2845G= c.6142G= (p.Glu2048=) c.6139G= (p.Glu2047=) c.5989G= (p.Glu1997=) | |
| 5 | g.128300841C>G | CA360766258 | FBN2 | n.2926G>C n.2845G>C c.6142G>C (p.Glu2048Gln) c.6139G>C (p.Glu2047Gln) c.5989G>C (p.Glu1997Gln) | |
| 5 | g.128300841C>T | CA360766256 | FBN2 | n.2926G>A n.2845G>A c.6142G>A (p.Glu2048Lys) c.6139G>A (p.Glu2047Lys) c.5989G>A (p.Glu1997Lys) | dbSNP gnomAD v4 |
| 5 | g.128300842A= | CA1581253461 | FBN2 | n.2925T= n.2844T= c.6141T= (p.Tyr2047=) c.6138T= (p.Tyr2046=) c.5988T= (p.Tyr1996=) | |
| 5 | g.128300842A>C | CA360766261 | FBN2 | n.2925T>G n.2844T>G c.6141T>G (p.Tyr2047Ter) c.6138T>G (p.Tyr2046Ter) c.5988T>G (p.Tyr1996Ter) | |
| 5 | g.128300842A>G | CA446309210 | FBN2 | n.2925T>C n.2844T>C c.6141T>C (p.Tyr2047=) c.6138T>C (p.Tyr2046=) c.5988T>C (p.Tyr1996=) | dbSNP |
| 5 | g.128300842A>T | CA360766263 | FBN2 | n.2925T>A n.2844T>A c.6141T>A (p.Tyr2047Ter) c.6138T>A (p.Tyr2046Ter) c.5988T>A (p.Tyr1996Ter) | |
| 5 | g.128300842_128300843delinsCC | CA645546421 | FBN2 | n.2924_2925delinsGG n.2843_2844delinsGG c.6140_6141delinsGG (p.Tyr2047Trp) c.6137_6138delinsGG (p.Tyr2046Trp) c.5987_5988delinsGG (p.Tyr1996Trp) | COSMIC COSMIC |
| 5 | g.128300843T>A | CA360766265 | FBN2 | n.2924A>T n.2843A>T c.6140A>T (p.Tyr2047Phe) c.6137A>T (p.Tyr2046Phe) c.5987A>T (p.Tyr1996Phe) | |
| 5 | g.128300843T>C | CA127043172 | FBN2 | n.2924A>G n.2843A>G c.6140A>G (p.Tyr2047Cys) c.6137A>G (p.Tyr2046Cys) c.5987A>G (p.Tyr1996Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300843T>G | CA360766268 | FBN2 | n.2924A>C n.2843A>C c.6140A>C (p.Tyr2047Ser) c.6137A>C (p.Tyr2046Ser) c.5987A>C (p.Tyr1996Ser) | |
| 5 | g.128300843T= | CA1581253462 | FBN2 | n.2924A= n.2843A= c.6140A= (p.Tyr2047=) c.6137A= (p.Tyr2046=) c.5987A= (p.Tyr1996=) | |
| 5 | g.128300844A>C | CA360766271 | FBN2 | n.2923T>G n.2842T>G c.6139T>G (p.Tyr2047Asp) c.6136T>G (p.Tyr2046Asp) c.5986T>G (p.Tyr1996Asp) | |
| 5 | g.128300844A>G | CA360766273 | FBN2 | n.2923T>C n.2842T>C c.6139T>C (p.Tyr2047His) c.6136T>C (p.Tyr2046His) c.5986T>C (p.Tyr1996His) | |
| 5 | g.128300844A>T | CA360766276 | FBN2 | n.2923T>A n.2842T>A c.6139T>A (p.Tyr2047Asn) c.6136T>A (p.Tyr2046Asn) c.5986T>A (p.Tyr1996Asn) | |
| 5 | g.128300845C>A | CA3394494 | FBN2 | n.2922G>T n.2841G>T c.6138G>T (p.Gly2046=) c.6135G>T (p.Gly2045=) c.5985G>T (p.Gly1995=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300845C= | CA1581253463 | FBN2 | n.2922G= n.2841G= c.6138G= (p.Gly2046=) c.6135G= (p.Gly2045=) c.5985G= (p.Gly1995=) | |
| 5 | g.128300845C>G | CA446309213 | FBN2 | n.2922G>C n.2841G>C c.6138G>C (p.Gly2046=) c.6135G>C (p.Gly2045=) c.5985G>C (p.Gly1995=) | |
| 5 | g.128300845C>T | CA446309214 | FBN2 | n.2922G>A n.2841G>A c.6138G>A (p.Gly2046=) c.6135G>A (p.Gly2045=) c.5985G>A (p.Gly1995=) | |
| 5 | g.128300846C>A | CA360766280 | FBN2 | n.2921G>T n.2840G>T c.6137G>T (p.Gly2046Val) c.6134G>T (p.Gly2045Val) c.5984G>T (p.Gly1995Val) | |
| 5 | g.128300846C= | CA1581253464 | FBN2 | n.2921G= n.2840G= c.6137G= (p.Gly2046=) c.6134G= (p.Gly2045=) c.5984G= (p.Gly1995=) | |
| 5 | g.128300846C>G | CA3394495 | FBN2 | n.2921G>C n.2840G>C c.6137G>C (p.Gly2046Ala) c.6134G>C (p.Gly2045Ala) c.5984G>C (p.Gly1995Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300846C>T | CA360766282 | FBN2 | n.2921G>A n.2840G>A c.6137G>A (p.Gly2046Glu) c.6134G>A (p.Gly2045Glu) c.5984G>A (p.Gly1995Glu) | |
| 5 | g.128300847C>A | CA360766288 | FBN2 | n.2920G>T n.2839G>T c.6136G>T (p.Gly2046Trp) c.6133G>T (p.Gly2045Trp) c.5983G>T (p.Gly1995Trp) | gnomAD v4 |
| 5 | g.128300847C>G | CA360766287 | FBN2 | n.2920G>C n.2839G>C c.6136G>C (p.Gly2046Arg) c.6133G>C (p.Gly2045Arg) c.5983G>C (p.Gly1995Arg) | |
| 5 | g.128300847C>T | CA360766285 | FBN2 | n.2920G>A n.2839G>A c.6136G>A (p.Gly2046Arg) c.6133G>A (p.Gly2045Arg) c.5983G>A (p.Gly1995Arg) | |
| 5 | g.128300848T>A | CA446309217 | FBN2 | n.2919A>T n.2838A>T c.6135A>T (p.Pro2045=) c.6132A>T (p.Pro2044=) c.5982A>T (p.Pro1994=) | |
| 5 | g.128300848T>C | CA3394496 | FBN2 | n.2919A>G n.2838A>G c.6135A>G (p.Pro2045=) c.6132A>G (p.Pro2044=) c.5982A>G (p.Pro1994=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300848T>G | CA446309218 | FBN2 | n.2919A>C n.2838A>C c.6135A>C (p.Pro2045=) c.6132A>C (p.Pro2044=) c.5982A>C (p.Pro1994=) | |
| 5 | g.128300848T= | CA1581253465 | FBN2 | n.2919A= n.2838A= c.6135A= (p.Pro2045=) c.6132A= (p.Pro2044=) c.5982A= (p.Pro1994=) | |
| 5 | g.128300849G>A | CA360766290 | FBN2 | n.2918C>T n.2837C>T c.6134C>T (p.Pro2045Leu) c.6131C>T (p.Pro2044Leu) c.5981C>T (p.Pro1994Leu) | dbSNP |
| 5 | g.128300849G>C | CA360766292 | FBN2 | n.2918C>G n.2837C>G c.6134C>G (p.Pro2045Arg) c.6131C>G (p.Pro2044Arg) c.5981C>G (p.Pro1994Arg) | |
| 5 | g.128300849G= | CA1581253466 | FBN2 | n.2918C= n.2837C= c.6134C= (p.Pro2045=) c.6131C= (p.Pro2044=) c.5981C= (p.Pro1994=) | |
| 5 | g.128300849G>T | CA360766293 | FBN2 | n.2918C>A n.2837C>A c.6134C>A (p.Pro2045Gln) c.6131C>A (p.Pro2044Gln) c.5981C>A (p.Pro1994Gln) | |
| 5 | g.128300853del | CA2578395894 | FBN2 | n.2918del n.2837del c.6134del (p.Pro2045GlnfsTer5) c.6131del (p.Pro2044GlnfsTer5) c.5981del (p.Pro1994GlnfsTer5) | |
| 5 | g.128300850G>A | CA360766296 | FBN2 | n.2917C>T n.2836C>T c.6133C>T (p.Pro2045Ser) c.6130C>T (p.Pro2044Ser) c.5980C>T (p.Pro1994Ser) | |
| 5 | g.128300850G>C | CA3394497 | FBN2 | n.2917C>G n.2836C>G c.6133C>G (p.Pro2045Ala) c.6130C>G (p.Pro2044Ala) c.5980C>G (p.Pro1994Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300850G= | CA1581253467 | FBN2 | n.2917C= n.2836C= c.6133C= (p.Pro2045=) c.6130C= (p.Pro2044=) c.5980C= (p.Pro1994=) | |
| 5 | g.128300850G>T | CA360766299 | FBN2 | n.2917C>A n.2836C>A c.6133C>A (p.Pro2045Thr) c.6130C>A (p.Pro2044Thr) c.5980C>A (p.Pro1994Thr) | |
| 5 | g.128300851G>A | CA446309219 | FBN2 | n.2916C>T n.2835C>T c.6132C>T (p.Pro2044=) c.6129C>T (p.Pro2043=) c.5979C>T (p.Pro1993=) | |
| 5 | g.128300851G>C | CA446309220 | FBN2 | n.2916C>G n.2835C>G c.6132C>G (p.Pro2044=) c.6129C>G (p.Pro2043=) c.5979C>G (p.Pro1993=) | |
| 5 | g.128300851G>T | CA446309221 | FBN2 | n.2916C>A n.2835C>A c.6132C>A (p.Pro2044=) c.6129C>A (p.Pro2043=) c.5979C>A (p.Pro1993=) | |
| 5 | g.128300852G>A | CA360766301 | FBN2 | n.2915C>T n.2834C>T c.6131C>T (p.Pro2044Leu) c.6128C>T (p.Pro2043Leu) c.5978C>T (p.Pro1993Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128300852G>C | CA360766302 | FBN2 | n.2915C>G n.2834C>G c.6131C>G (p.Pro2044Arg) c.6128C>G (p.Pro2043Arg) c.5978C>G (p.Pro1993Arg) | |
| 5 | g.128300852G= | CA1581253468 | FBN2 | n.2915C= n.2834C= c.6131C= (p.Pro2044=) c.6128C= (p.Pro2043=) c.5978C= (p.Pro1993=) | |
| 5 | g.128300852G>T | CA360766305 | FBN2 | n.2915C>A n.2834C>A c.6131C>A (p.Pro2044His) c.6128C>A (p.Pro2043His) c.5978C>A (p.Pro1993His) | |
| 5 | g.128300853G>A | CA360766307 | FBN2 | n.2914C>T n.2833C>T c.6130C>T (p.Pro2044Ser) c.6127C>T (p.Pro2043Ser) c.5977C>T (p.Pro1993Ser) | |
| 5 | g.128300853G>C | CA3394498 | FBN2 | n.2914C>G n.2833C>G c.6130C>G (p.Pro2044Ala) c.6127C>G (p.Pro2043Ala) c.5977C>G (p.Pro1993Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300853G= | CA1581253469 | FBN2 | n.2914C= n.2833C= c.6130C= (p.Pro2044=) c.6127C= (p.Pro2043=) c.5977C= (p.Pro1993=) | |
| 5 | g.128300853G>T | CA360766310 | FBN2 | n.2914C>A n.2833C>A c.6130C>A (p.Pro2044Thr) c.6127C>A (p.Pro2043Thr) c.5977C>A (p.Pro1993Thr) | |
| 5 | g.128300854A>C | CA360766314 | FBN2 | n.2913T>G n.2832T>G c.6129T>G (p.Cys2043Trp) c.6126T>G (p.Cys2042Trp) c.5976T>G (p.Cys1992Trp) | |
| 5 | g.128300854A>G | CA446309224 | FBN2 | n.2913T>C n.2832T>C c.6129T>C (p.Cys2043=) c.6126T>C (p.Cys2042=) c.5976T>C (p.Cys1992=) | |
| 5 | g.128300854A>T | CA360766312 | FBN2 | n.2913T>A n.2832T>A c.6129T>A (p.Cys2043Ter) c.6126T>A (p.Cys2042Ter) c.5976T>A (p.Cys1992Ter) | |
| 5 | g.128300855C>A | CA360766315 | FBN2 | n.2912G>T n.2831G>T c.6128G>T (p.Cys2043Phe) c.6125G>T (p.Cys2042Phe) c.5975G>T (p.Cys1992Phe) | |
| 5 | g.128300855C>G | CA360766317 | FBN2 | n.2912G>C n.2831G>C c.6128G>C (p.Cys2043Ser) c.6125G>C (p.Cys2042Ser) c.5975G>C (p.Cys1992Ser) | |
| 5 | g.128300855C>T | CA360766320 | FBN2 | n.2912G>A n.2831G>A c.6128G>A (p.Cys2043Tyr) c.6125G>A (p.Cys2042Tyr) c.5975G>A (p.Cys1992Tyr) | |
| 5 | g.128300856A= | CA1581253470 | FBN2 | n.2911T= n.2830T= c.6127T= (p.Cys2043=) c.6124T= (p.Cys2042=) c.5974T= (p.Cys1992=) | |
| 5 | g.128300856A>C | CA360766322 | FBN2 | n.2911T>G n.2830T>G c.6127T>G (p.Cys2043Gly) c.6124T>G (p.Cys2042Gly) c.5974T>G (p.Cys1992Gly) | gnomAD v4 |
| 5 | g.128300856A>G | CA3394499 | FBN2 | n.2911T>C n.2830T>C c.6127T>C (p.Cys2043Arg) c.6124T>C (p.Cys2042Arg) c.5974T>C (p.Cys1992Arg) | dbSNP ExAC gnomAD v2 |
| 5 | g.128300856A>T | CA360766324 | FBN2 | n.2911T>A n.2830T>A c.6127T>A (p.Cys2043Ser) c.6124T>A (p.Cys2042Ser) c.5974T>A (p.Cys1992Ser) | |
| 5 | g.128300857G>A | CA446309229 | FBN2 | n.2910C>T n.2829C>T c.6126C>T (p.Ile2042=) c.6123C>T (p.Ile2041=) c.5973C>T (p.Ile1991=) | |
| 5 | g.128300857G>C | CA360766325 | FBN2 | n.2910C>G n.2829C>G c.6126C>G (p.Ile2042Met) c.6123C>G (p.Ile2041Met) c.5973C>G (p.Ile1991Met) | |
| 5 | g.128300857G>T | CA446309228 | FBN2 | n.2910C>A n.2829C>A c.6126C>A (p.Ile2042=) c.6123C>A (p.Ile2041=) c.5973C>A (p.Ile1991=) | |
| 5 | g.128300858A>C | CA360766328 | FBN2 | n.2909T>G n.2828T>G c.6125T>G (p.Ile2042Ser) c.6122T>G (p.Ile2041Ser) c.5972T>G (p.Ile1991Ser) | gnomAD v4 |
| 5 | g.128300858A>G | CA360766330 | FBN2 | n.2909T>C n.2828T>C c.6125T>C (p.Ile2042Thr) c.6122T>C (p.Ile2041Thr) c.5972T>C (p.Ile1991Thr) | gnomAD v4 |
| 5 | g.128300858A>T | CA360766334 | FBN2 | n.2909T>A n.2828T>A c.6125T>A (p.Ile2042Asn) c.6122T>A (p.Ile2041Asn) c.5972T>A (p.Ile1991Asn) | |
| 5 | g.128300859T>A | CA360766337 | FBN2 | n.2908A>T n.2827A>T c.6124A>T (p.Ile2042Phe) c.6121A>T (p.Ile2041Phe) c.5971A>T (p.Ile1991Phe) | |
| 5 | g.128300859T>C | CA360766338 | FBN2 | n.2908A>G n.2827A>G c.6124A>G (p.Ile2042Val) c.6121A>G (p.Ile2041Val) c.5971A>G (p.Ile1991Val) | |
| 5 | g.128300859T>G | CA360766341 | FBN2 | n.2908A>C n.2827A>C c.6124A>C (p.Ile2042Leu) c.6121A>C (p.Ile2041Leu) c.5971A>C (p.Ile1991Leu) | |
| 5 | g.128300860G>A | CA446309231 | FBN2 | n.2907C>T n.2826C>T c.6123C>T (p.Cys2041=) c.6120C>T (p.Cys2040=) c.5970C>T (p.Cys1990=) | |
| 5 | g.128300860G>C | CA360766342 | FBN2 | n.2907C>G n.2826C>G c.6123C>G (p.Cys2041Trp) c.6120C>G (p.Cys2040Trp) c.5970C>G (p.Cys1990Trp) | |
| 5 | g.128300860G>T | CA360766343 | FBN2 | n.2907C>A n.2826C>A c.6123C>A (p.Cys2041Ter) c.6120C>A (p.Cys2040Ter) c.5970C>A (p.Cys1990Ter) | |
| 5 | g.128300861C>A | CA360766344 | FBN2 | n.2906G>T n.2825G>T c.6122G>T (p.Cys2041Phe) c.6119G>T (p.Cys2040Phe) c.5969G>T (p.Cys1990Phe) | COSMIC COSMIC |
| 5 | g.128300861C>G | CA360766347 | FBN2 | n.2906G>C n.2825G>C c.6122G>C (p.Cys2041Ser) c.6119G>C (p.Cys2040Ser) c.5969G>C (p.Cys1990Ser) | |
| 5 | g.128300861C>T | CA360766345 | FBN2 | n.2906G>A n.2825G>A c.6122G>A (p.Cys2041Tyr) c.6119G>A (p.Cys2040Tyr) c.5969G>A (p.Cys1990Tyr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128300862A>C | CA360766349 | FBN2 | n.2905T>G n.2824T>G c.6121T>G (p.Cys2041Gly) c.6118T>G (p.Cys2040Gly) c.5968T>G (p.Cys1990Gly) | |
| 5 | g.128300862A>G | CA360766353 | FBN2 | n.2905T>C n.2824T>C c.6121T>C (p.Cys2041Arg) c.6118T>C (p.Cys2040Arg) c.5968T>C (p.Cys1990Arg) | |
| 5 | g.128300862A>T | CA360766351 | FBN2 | n.2905T>A n.2824T>A c.6121T>A (p.Cys2041Ser) c.6118T>A (p.Cys2040Ser) c.5968T>A (p.Cys1990Ser) | |
| 5 | g.128300863T>A | CA360766355 | FBN2 | n.2904A>T n.2823A>T c.6120A>T (p.Arg2040Ser) c.6117A>T (p.Arg2039Ser) c.5967A>T (p.Arg1989Ser) | |
| 5 | g.128300863T>C | CA446309235 | FBN2 | n.2904A>G n.2823A>G c.6120A>G (p.Arg2040=) c.6117A>G (p.Arg2039=) c.5967A>G (p.Arg1989=) | |
| 5 | g.128300863T>G | CA360766357 | FBN2 | n.2904A>C n.2823A>C c.6120A>C (p.Arg2040Ser) c.6117A>C (p.Arg2039Ser) c.5967A>C (p.Arg1989Ser) | |
| 5 | g.128300864C>A | CA360766359 | FBN2 | n.2903G>T n.2822G>T c.6119G>T (p.Arg2040Ile) c.6116G>T (p.Arg2039Ile) c.5966G>T (p.Arg1989Ile) | |
| 5 | g.128300864C= | CA1581253471 | FBN2 | n.2903G= n.2822G= c.6119G= (p.Arg2040=) c.6116G= (p.Arg2039=) c.5966G= (p.Arg1989=) | |
| 5 | g.128300864C>G | CA360766361 | FBN2 | n.2903G>C n.2822G>C c.6119G>C (p.Arg2040Thr) c.6116G>C (p.Arg2039Thr) c.5966G>C (p.Arg1989Thr) | |
| 5 | g.128300864C>T | CA360766363 | FBN2 | n.2903G>A n.2822G>A c.6119G>A (p.Arg2040Lys) c.6116G>A (p.Arg2039Lys) c.5966G>A (p.Arg1989Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128300865T>A | CA360766364 | FBN2 | n.2902A>T n.2821A>T c.6118A>T (p.Arg2040Ter) c.6115A>T (p.Arg2039Ter) c.5965A>T (p.Arg1989Ter) | |
| 5 | g.128300865T>C | CA10587605 | FBN2 | n.2902A>G n.2821A>G c.6118A>G (p.Arg2040Gly) c.6115A>G (p.Arg2039Gly) c.5965A>G (p.Arg1989Gly) | ClinVar dbSNP |
| 5 | g.128300865T>G | CA446309237 | FBN2 | n.2902A>C n.2821A>C c.6118A>C (p.Arg2040=) c.6115A>C (p.Arg2039=) c.5965A>C (p.Arg1989=) | |
| 5 | g.128300865T= | CA1581253472 | FBN2 | n.2902A= n.2821A= c.6118A= (p.Arg2040=) c.6115A= (p.Arg2039=) c.5965A= (p.Arg1989=) | |
| 5 | g.128300866G>A | CA446309238 | FBN2 | n.2901C>T n.2820C>T c.6117C>T (p.Phe2039=) c.6114C>T (p.Phe2038=) c.5964C>T (p.Phe1988=) | dbSNP |
| 5 | g.128300866G>C | CA360766369 | FBN2 | n.2901C>G n.2820C>G c.6117C>G (p.Phe2039Leu) c.6114C>G (p.Phe2038Leu) c.5964C>G (p.Phe1988Leu) | |
| 5 | g.128300866G= | CA1581253473 | FBN2 | n.2901C= n.2820C= c.6117C= (p.Phe2039=) c.6114C= (p.Phe2038=) c.5964C= (p.Phe1988=) | |
| 5 | g.128300866G>T | CA360766371 | FBN2 | n.2901C>A n.2820C>A c.6117C>A (p.Phe2039Leu) c.6114C>A (p.Phe2038Leu) c.5964C>A (p.Phe1988Leu) | |
| 5 | g.128300867A>C | CA360766374 | FBN2 | n.2900T>G n.2819T>G c.6116T>G (p.Phe2039Cys) c.6113T>G (p.Phe2038Cys) c.5963T>G (p.Phe1988Cys) | |
| 5 | g.128300867A>G | CA360766376 | FBN2 | n.2900T>C n.2819T>C c.6116T>C (p.Phe2039Ser) c.6113T>C (p.Phe2038Ser) c.5963T>C (p.Phe1988Ser) | |
| 5 | g.128300867A>T | CA360766378 | FBN2 | n.2900T>A n.2819T>A c.6116T>A (p.Phe2039Tyr) c.6113T>A (p.Phe2038Tyr) c.5963T>A (p.Phe1988Tyr) | gnomAD v4 |
| 5 | g.128300868A>C | CA360766380 | FBN2 | n.2899T>G n.2818T>G c.6115T>G (p.Phe2039Val) c.6112T>G (p.Phe2038Val) c.5962T>G (p.Phe1988Val) | |
| 5 | g.128300868A>G | CA360766382 | FBN2 | n.2899T>C n.2818T>C c.6115T>C (p.Phe2039Leu) c.6112T>C (p.Phe2038Leu) c.5962T>C (p.Phe1988Leu) | |
| 5 | g.128300868A>T | CA360766381 | FBN2 | n.2899T>A n.2818T>A c.6115T>A (p.Phe2039Ile) c.6112T>A (p.Phe2038Ile) c.5962T>A (p.Phe1988Ile) | |
| 5 | g.128300869G>A | CA446309239 | FBN2 | n.2898C>T n.2817C>T c.6114C>T (p.Ser2038=) c.6111C>T (p.Ser2037=) c.5961C>T (p.Ser1987=) | gnomAD v4 |
| 5 | g.128300869G>C | CA446309241 | FBN2 | n.2898C>G n.2817C>G c.6114C>G (p.Ser2038=) c.6111C>G (p.Ser2037=) c.5961C>G (p.Ser1987=) | |
| 5 | g.128300869G= | CA1581253474 | FBN2 | n.2898C= n.2817C= c.6114C= (p.Ser2038=) c.6111C= (p.Ser2037=) c.5961C= (p.Ser1987=) | |
| 5 | g.128300869G>T | CA446309240 | FBN2 | n.2898C>A n.2817C>A c.6114C>A (p.Ser2038=) c.6111C>A (p.Ser2037=) c.5961C>A (p.Ser1987=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.128300870G>A | CA360766385 | FBN2 | n.2897C>T n.2816C>T c.6113C>T (p.Ser2038Phe) c.6110C>T (p.Ser2037Phe) c.5960C>T (p.Ser1987Phe) | |
| 5 | g.128300870G>C | CA360766386 | FBN2 | n.2897C>G n.2816C>G c.6113C>G (p.Ser2038Cys) c.6110C>G (p.Ser2037Cys) c.5960C>G (p.Ser1987Cys) | |
| 5 | g.128300870G= | CA1581253475 | FBN2 | n.2897C= n.2816C= c.6113C= (p.Ser2038=) c.6110C= (p.Ser2037=) c.5960C= (p.Ser1987=) | |
| 5 | g.128300870G>T | CA127043245 | FBN2 | n.2897C>A n.2816C>A c.6113C>A (p.Ser2038Tyr) c.6110C>A (p.Ser2037Tyr) c.5960C>A (p.Ser1987Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300871A>C | CA360766389 | FBN2 | n.2896T>G n.2815T>G c.6112T>G (p.Ser2038Ala) c.6109T>G (p.Ser2037Ala) c.5959T>G (p.Ser1987Ala) | |
| 5 | g.128300871A>G | CA360766395 | FBN2 | n.2896T>C n.2815T>C c.6112T>C (p.Ser2038Pro) c.6109T>C (p.Ser2037Pro) c.5959T>C (p.Ser1987Pro) | |
| 5 | g.128300871A>T | CA360766396 | FBN2 | n.2896T>A n.2815T>A c.6112T>A (p.Ser2038Thr) c.6109T>A (p.Ser2037Thr) c.5959T>A (p.Ser1987Thr) | |
| 5 | g.128300872T>A | CA446309245 | FBN2 | n.2895A>T n.2814A>T c.6111A>T (p.Gly2037=) c.6108A>T (p.Gly2036=) c.5958A>T (p.Gly1986=) | |
| 5 | g.128300872T>C | CA446309246 | FBN2 | n.2895A>G n.2814A>G c.6111A>G (p.Gly2037=) c.6108A>G (p.Gly2036=) c.5958A>G (p.Gly1986=) | |
| 5 | g.128300872T>G | CA446309247 | FBN2 | n.2895A>C n.2814A>C c.6111A>C (p.Gly2037=) c.6108A>C (p.Gly2036=) c.5958A>C (p.Gly1986=) | |
| 5 | g.128300873C>A | CA360766399 | FBN2 | n.2894G>T n.2813G>T c.6110G>T (p.Gly2037Val) c.6107G>T (p.Gly2036Val) c.5957G>T (p.Gly1986Val) | |
| 5 | g.128300873C>G | CA360766401 | FBN2 | n.2894G>C n.2813G>C c.6110G>C (p.Gly2037Ala) c.6107G>C (p.Gly2036Ala) c.5957G>C (p.Gly1986Ala) | |
| 5 | g.128300873C>T | CA360766403 | FBN2 | n.2894G>A n.2813G>A c.6110G>A (p.Gly2037Glu) c.6107G>A (p.Gly2036Glu) c.5957G>A (p.Gly1986Glu) | |
| 5 | g.128300874C>A | CA360766408 | FBN2 | n.2893G>T n.2812G>T c.6109G>T (p.Gly2037Ter) c.6106G>T (p.Gly2036Ter) c.5956G>T (p.Gly1986Ter) | |
| 5 | g.128300874C>G | CA360766410 | FBN2 | n.2893G>C n.2812G>C c.6109G>C (p.Gly2037Arg) c.6106G>C (p.Gly2036Arg) c.5956G>C (p.Gly1986Arg) | |
| 5 | g.128300874C>T | CA360766406 | FBN2 | n.2893G>A n.2812G>A c.6109G>A (p.Gly2037Arg) c.6106G>A (p.Gly2036Arg) c.5956G>A (p.Gly1986Arg) | |
| 5 | g.128300875C>A | CA360766412 | FBN2 | n.2892G>T n.2811G>T c.6108G>T (p.Glu2036Asp) c.6105G>T (p.Glu2035Asp) c.5955G>T (p.Glu1985Asp) | |
| 5 | g.128300875C>G | CA360766414 | FBN2 | n.2892G>C n.2811G>C c.6108G>C (p.Glu2036Asp) c.6105G>C (p.Glu2035Asp) c.5955G>C (p.Glu1985Asp) | |
| 5 | g.128300875C>T | CA446309249 | FBN2 | n.2892G>A n.2811G>A c.6108G>A (p.Glu2036=) c.6105G>A (p.Glu2035=) c.5955G>A (p.Glu1985=) | gnomAD v4 |
| 5 | g.128300876T>A | CA360766418 | FBN2 | n.2891A>T n.2810A>T c.6107A>T (p.Glu2036Val) c.6104A>T (p.Glu2035Val) c.5954A>T (p.Glu1985Val) | |
| 5 | g.128300876T>C | CA360766419 | FBN2 | n.2891A>G n.2810A>G c.6107A>G (p.Glu2036Gly) c.6104A>G (p.Glu2035Gly) c.5954A>G (p.Glu1985Gly) | |
| 5 | g.128300876T>G | CA360766421 | FBN2 | n.2891A>C n.2810A>C c.6107A>C (p.Glu2036Ala) c.6104A>C (p.Glu2035Ala) c.5954A>C (p.Glu1985Ala) | |
| 5 | g.128300877C>A | CA360766423 | FBN2 | n.2890G>T n.2809G>T c.6106G>T (p.Glu2036Ter) c.6103G>T (p.Glu2035Ter) c.5953G>T (p.Glu1985Ter) | |
| 5 | g.128300877C>G | CA360766425 | FBN2 | n.2890G>C n.2809G>C c.6106G>C (p.Glu2036Gln) c.6103G>C (p.Glu2035Gln) c.5953G>C (p.Glu1985Gln) | |
| 5 | g.128300877C>T | CA360766426 | FBN2 | n.2890G>A n.2809G>A c.6106G>A (p.Glu2036Lys) c.6103G>A (p.Glu2035Lys) c.5953G>A (p.Glu1985Lys) | |
| 5 | g.128300878C>A | CA360766428 | FBN2 | n.2889G>T n.2808G>T c.6105G>T (p.Leu2035Phe) c.6102G>T (p.Leu2034Phe) c.5952G>T (p.Leu1984Phe) | |
| 5 | g.128300878C>G | CA360766430 | FBN2 | n.2889G>C n.2808G>C c.6105G>C (p.Leu2035Phe) c.6102G>C (p.Leu2034Phe) c.5952G>C (p.Leu1984Phe) | ClinVar |
| 5 | g.128300878C>T | CA446309252 | FBN2 | n.2889G>A n.2808G>A c.6105G>A (p.Leu2035=) c.6102G>A (p.Leu2034=) c.5952G>A (p.Leu1984=) | COSMIC COSMIC |
| 5 | g.128300879A= | CA1581253476 | FBN2 | n.2888T= n.2807T= c.6104T= (p.Leu2035=) c.6101T= (p.Leu2034=) c.5951T= (p.Leu1984=) | |
| 5 | g.128300879A>C | CA360766431 | FBN2 | n.2888T>G n.2807T>G c.6104T>G (p.Leu2035Trp) c.6101T>G (p.Leu2034Trp) c.5951T>G (p.Leu1984Trp) | |
| 5 | g.128300879A>G | CA3394500 | FBN2 | n.2888T>C n.2807T>C c.6104T>C (p.Leu2035Ser) c.6101T>C (p.Leu2034Ser) c.5951T>C (p.Leu1984Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300879A>T | CA360766434 | FBN2 | n.2888T>A n.2807T>A c.6104T>A (p.Leu2035Ter) c.6101T>A (p.Leu2034Ter) c.5951T>A (p.Leu1984Ter) | |
| 5 | g.128300880A>C | CA360766438 | FBN2 | n.2887T>G n.2806T>G c.6103T>G (p.Leu2035Val) c.6100T>G (p.Leu2034Val) c.5950T>G (p.Leu1984Val) | |
| 5 | g.128300880A>G | CA446309253 | FBN2 | n.2887T>C n.2806T>C c.6103T>C (p.Leu2035=) c.6100T>C (p.Leu2034=) c.5950T>C (p.Leu1984=) | |
| 5 | g.128300880A>T | CA360766437 | FBN2 | n.2887T>A n.2806T>A c.6103T>A (p.Leu2035Met) c.6100T>A (p.Leu2034Met) c.5950T>A (p.Leu1984Met) | |
| 5 | g.128300881A>C | CA360766440 | FBN2 | n.2886T>G n.2805T>G c.6102T>G (p.Asn2034Lys) c.6099T>G (p.Asn2033Lys) c.5949T>G (p.Asn1983Lys) | |
| 5 | g.128300881A>G | CA446309255 | FBN2 | n.2886T>C n.2805T>C c.6102T>C (p.Asn2034=) c.6099T>C (p.Asn2033=) c.5949T>C (p.Asn1983=) | |
| 5 | g.128300881A>T | CA360766442 | FBN2 | n.2886T>A n.2805T>A c.6102T>A (p.Asn2034Lys) c.6099T>A (p.Asn2033Lys) c.5949T>A (p.Asn1983Lys) | |
| 5 | g.128300882T>A | CA360766444 | FBN2 | n.2885A>T n.2804A>T c.6101A>T (p.Asn2034Ile) c.6098A>T (p.Asn2033Ile) c.5948A>T (p.Asn1983Ile) | |
| 5 | g.128300882T>C | CA360766446 | FBN2 | n.2885A>G n.2804A>G c.6101A>G (p.Asn2034Ser) c.6098A>G (p.Asn2033Ser) c.5948A>G (p.Asn1983Ser) | |
| 5 | g.128300882T>G | CA360766447 | FBN2 | n.2885A>C n.2804A>C c.6101A>C (p.Asn2034Thr) c.6098A>C (p.Asn2033Thr) c.5948A>C (p.Asn1983Thr) | |
| 5 | g.128300883T>A | CA360766449 | FBN2 | n.2884A>T n.2803A>T c.6100A>T (p.Asn2034Tyr) c.6097A>T (p.Asn2033Tyr) c.5947A>T (p.Asn1983Tyr) | |
| 5 | g.128300883T>C | CA360766451 | FBN2 | n.2884A>G n.2803A>G c.6100A>G (p.Asn2034Asp) c.6097A>G (p.Asn2033Asp) c.5947A>G (p.Asn1983Asp) | |
| 5 | g.128300883T>G | CA360766453 | FBN2 | n.2884A>C n.2803A>C c.6100A>C (p.Asn2034His) c.6097A>C (p.Asn2033His) c.5947A>C (p.Asn1983His) | |
| 5 | g.128300884C>A | CA360766455 | FBN2 | n.2883G>T n.2802G>T c.6099G>T (p.Gln2033His) c.6096G>T (p.Gln2032His) c.5946G>T (p.Gln1982His) | |
| 5 | g.128300884C>G | CA360766457 | FBN2 | n.2883G>C n.2802G>C c.6099G>C (p.Gln2033His) c.6096G>C (p.Gln2032His) c.5946G>C (p.Gln1982His) | |
| 5 | g.128300884C>T | CA446309256 | FBN2 | n.2883G>A n.2802G>A c.6099G>A (p.Gln2033=) c.6096G>A (p.Gln2032=) c.5946G>A (p.Gln1982=) | |
| 5 | g.128300885T>A | CA360766460 | FBN2 | n.2882A>T n.2801A>T c.6098A>T (p.Gln2033Leu) c.6095A>T (p.Gln2032Leu) c.5945A>T (p.Gln1982Leu) | |
| 5 | g.128300885T>C | CA360766461 | FBN2 | n.2882A>G n.2801A>G c.6098A>G (p.Gln2033Arg) c.6095A>G (p.Gln2032Arg) c.5945A>G (p.Gln1982Arg) | |
| 5 | g.128300885T>G | CA360766463 | FBN2 | n.2882A>C n.2801A>C c.6098A>C (p.Gln2033Pro) c.6095A>C (p.Gln2032Pro) c.5945A>C (p.Gln1982Pro) | |
| 5 | g.128300886G>A | CA360766468 | FBN2 | n.2881C>T n.2800C>T c.6097C>T (p.Gln2033Ter) c.6094C>T (p.Gln2032Ter) c.5944C>T (p.Gln1982Ter) | |
| 5 | g.128300886G>C | CA360766466 | FBN2 | n.2881C>G n.2800C>G c.6097C>G (p.Gln2033Glu) c.6094C>G (p.Gln2032Glu) c.5944C>G (p.Gln1982Glu) | |
| 5 | g.128300886G>T | CA360766465 | FBN2 | n.2881C>A n.2800C>A c.6097C>A (p.Gln2033Lys) c.6094C>A (p.Gln2032Lys) c.5944C>A (p.Gln1982Lys) | |
| 5 | g.128300887A= | CA1581253477 | FBN2 | n.2880T= n.2799T= c.6096T= (p.Cys2032=) c.6093T= (p.Cys2031=) c.5943T= (p.Cys1981=) | |
| 5 | g.128300887A>C | CA360766470 | FBN2 | n.2880T>G n.2799T>G c.6096T>G (p.Cys2032Trp) c.6093T>G (p.Cys2031Trp) c.5943T>G (p.Cys1981Trp) | |
| 5 | g.128300887A>G | CA3394501 | FBN2 | n.2880T>C n.2799T>C c.6096T>C (p.Cys2032=) c.6093T>C (p.Cys2031=) c.5943T>C (p.Cys1981=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128300887A>T | CA360766474 | FBN2 | n.2880T>A n.2799T>A c.6096T>A (p.Cys2032Ter) c.6093T>A (p.Cys2031Ter) c.5943T>A (p.Cys1981Ter) | |
| 5 | g.128300888C>A | CA360766476 | FBN2 | n.2879G>T n.2798G>T c.6095G>T (p.Cys2032Phe) c.6092G>T (p.Cys2031Phe) c.5942G>T (p.Cys1981Phe) | |
| 5 | g.128300888C>G | CA360766478 | FBN2 | n.2879G>C n.2798G>C c.6095G>C (p.Cys2032Ser) c.6092G>C (p.Cys2031Ser) c.5942G>C (p.Cys1981Ser) | |
| 5 | g.128300888C>T | CA360766480 | FBN2 | n.2879G>A n.2798G>A c.6095G>A (p.Cys2032Tyr) c.6092G>A (p.Cys2031Tyr) c.5942G>A (p.Cys1981Tyr) | gnomAD v4 |
| 5 | g.128300889A>C | CA360766486 | FBN2 | n.2878T>G n.2797T>G c.6094T>G (p.Cys2032Gly) c.6091T>G (p.Cys2031Gly) c.5941T>G (p.Cys1981Gly) | gnomAD v4 |
| 5 | g.128300889A>G | CA360766484 | FBN2 | n.2878T>C n.2797T>C c.6094T>C (p.Cys2032Arg) c.6091T>C (p.Cys2031Arg) c.5941T>C (p.Cys1981Arg) | |
| 5 | g.128300889A>T | CA360766482 | FBN2 | n.2878T>A n.2797T>A c.6094T>A (p.Cys2032Ser) c.6091T>A (p.Cys2031Ser) c.5941T>A (p.Cys1981Ser) | |
| 5 | g.128300890G>A | CA446309259 | FBN2 | n.2877C>T n.2796C>T c.6093C>T (p.Thr2031=) c.6090C>T (p.Thr2030=) c.5940C>T (p.Thr1980=) | |
| 5 | g.128300890G>C | CA446309260 | FBN2 | n.2877C>G n.2796C>G c.6093C>G (p.Thr2031=) c.6090C>G (p.Thr2030=) c.5940C>G (p.Thr1980=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128300890G= | CA1581253478 | FBN2 | n.2877C= n.2796C= c.6093C= (p.Thr2031=) c.6090C= (p.Thr2030=) c.5940C= (p.Thr1980=) | |
| 5 | g.128300890G>T | CA446309261 | FBN2 | n.2877C>A n.2796C>A c.6093C>A (p.Thr2031=) c.6090C>A (p.Thr2030=) c.5940C>A (p.Thr1980=) | |
| 5 | g.128300891G>A | CA360766488 | FBN2 | n.2876C>T n.2795C>T c.6092C>T (p.Thr2031Ile) c.6089C>T (p.Thr2030Ile) c.5939C>T (p.Thr1980Ile) | gnomAD v4 |
| 5 | g.128300891G>C | CA360766490 | FBN2 | n.2876C>G n.2795C>G c.6092C>G (p.Thr2031Ser) c.6089C>G (p.Thr2030Ser) c.5939C>G (p.Thr1980Ser) | |
| 5 | g.128300891G>T | CA360766491 | FBN2 | n.2876C>A n.2795C>A c.6092C>A (p.Thr2031Asn) c.6089C>A (p.Thr2030Asn) c.5939C>A (p.Thr1980Asn) | |
| 5 | g.128300892T>A | CA360766494 | FBN2 | n.2875A>T n.2794A>T c.6091A>T (p.Thr2031Ser) c.6088A>T (p.Thr2030Ser) c.5938A>T (p.Thr1980Ser) | |
| 5 | g.128300892T>C | CA360766496 | FBN2 | n.2875A>G n.2794A>G c.6091A>G (p.Thr2031Ala) c.6088A>G (p.Thr2030Ala) c.5938A>G (p.Thr1980Ala) | gnomAD v4 |
| 5 | g.128300892T>G | CA360766498 | FBN2 | n.2875A>C n.2794A>C c.6091A>C (p.Thr2031Pro) c.6088A>C (p.Thr2030Pro) c.5938A>C (p.Thr1980Pro) | |
| 5 | g.128300893A>C | CA446309262 | FBN2 | n.2874T>G n.2793T>G c.6090T>G (p.Gly2030=) c.6087T>G (p.Gly2029=) c.5937T>G (p.Gly1979=) | |
| 5 | g.128300893A>G | CA446309264 | FBN2 | n.2874T>C n.2793T>C c.6090T>C (p.Gly2030=) c.6087T>C (p.Gly2029=) c.5937T>C (p.Gly1979=) | |
| 5 | g.128300893A>T | CA446309266 | FBN2 | n.2874T>A n.2793T>A c.6090T>A (p.Gly2030=) c.6087T>A (p.Gly2029=) c.5937T>A (p.Gly1979=) | |
| 5 | g.128300894C>A | CA360766500 | FBN2 | n.2873G>T n.2792G>T c.6089G>T (p.Gly2030Val) c.6086G>T (p.Gly2029Val) c.5936G>T (p.Gly1979Val) | ClinVar |
| 5 | g.128300894C>G | CA360766503 | FBN2 | n.2873G>C n.2792G>C c.6089G>C (p.Gly2030Ala) c.6086G>C (p.Gly2029Ala) c.5936G>C (p.Gly1979Ala) | |
| 5 | g.128300894C>T | CA360766501 | FBN2 | n.2873G>A n.2792G>A c.6089G>A (p.Gly2030Asp) c.6086G>A (p.Gly2029Asp) c.5936G>A (p.Gly1979Asp) | |
| 5 | g.128300895C>A | CA360766504 | FBN2 | n.2872G>T n.2791G>T c.6088G>T (p.Gly2030Cys) c.6085G>T (p.Gly2029Cys) c.5935G>T (p.Gly1979Cys) | |
| 5 | g.128300895C>G | CA360766506 | FBN2 | n.2872G>C n.2791G>C c.6088G>C (p.Gly2030Arg) c.6085G>C (p.Gly2029Arg) c.5935G>C (p.Gly1979Arg) | |
| 5 | g.128300895C>T | CA360766507 | FBN2 | n.2872G>A n.2791G>A c.6088G>A (p.Gly2030Ser) c.6085G>A (p.Gly2029Ser) c.5935G>A (p.Gly1979Ser) | |
| 5 | g.128300896A= | CA1581253479 | FBN2 | n.2871T= n.2790T= c.6087T= (p.Pro2029=) c.6084T= (p.Pro2028=) c.5934T= (p.Pro1978=) | |
| 5 | g.128300896A>C | CA446309267 | FBN2 | n.2871T>G n.2790T>G c.6087T>G (p.Pro2029=) c.6084T>G (p.Pro2028=) c.5934T>G (p.Pro1978=) | ClinVar |
| 5 | g.128300896A>G | CA127043257 | FBN2 | n.2871T>C n.2790T>C c.6087T>C (p.Pro2029=) c.6084T>C (p.Pro2028=) c.5934T>C (p.Pro1978=) | dbSNP |
| 5 | g.128300896A>T | CA446309269 | FBN2 | n.2871T>A n.2790T>A c.6087T>A (p.Pro2029=) c.6084T>A (p.Pro2028=) c.5934T>A (p.Pro1978=) | |
| 5 | g.128300897G>A | CA360766510 | FBN2 | n.2870C>T n.2789C>T c.6086C>T (p.Pro2029Leu) c.6083C>T (p.Pro2028Leu) c.5933C>T (p.Pro1978Leu) | COSMIC COSMIC |
| 5 | g.128300897G>C | CA360766512 | FBN2 | n.2870C>G n.2789C>G c.6086C>G (p.Pro2029Arg) c.6083C>G (p.Pro2028Arg) c.5933C>G (p.Pro1978Arg) | |
| 5 | g.128300897G>T | CA360766514 | FBN2 | n.2870C>A n.2789C>A c.6086C>A (p.Pro2029His) c.6083C>A (p.Pro2028His) c.5933C>A (p.Pro1978His) | |
| 5 | g.128300898G>A | CA360766516 | FBN2 | n.2869C>T n.2788C>T c.6085C>T (p.Pro2029Ser) c.6082C>T (p.Pro2028Ser) c.5932C>T (p.Pro1978Ser) | |
| 5 | g.128300898G>C | CA360766518 | FBN2 | n.2869C>G n.2788C>G c.6085C>G (p.Pro2029Ala) c.6082C>G (p.Pro2028Ala) c.5932C>G (p.Pro1978Ala) | gnomAD v4 |
| 5 | g.128300898G>T | CA360766519 | FBN2 | n.2869C>A n.2788C>A c.6085C>A (p.Pro2029Thr) c.6082C>A (p.Pro2028Thr) c.5932C>A (p.Pro1978Thr) | |
| 5 | g.128300899A>C | CA446309274 | FBN2 | n.2868T>G n.2787T>G c.6084T>G (p.Ser2028=) c.6081T>G (p.Ser2027=) c.5931T>G (p.Ser1977=) | |
| 5 | g.128300899A>G | CA446309272 | FBN2 | n.2868T>C n.2787T>C c.6084T>C (p.Ser2028=) c.6081T>C (p.Ser2027=) c.5931T>C (p.Ser1977=) | |
| 5 | g.128300899A>T | CA446309273 | FBN2 | n.2868T>A n.2787T>A c.6084T>A (p.Ser2028=) c.6081T>A (p.Ser2027=) c.5931T>A (p.Ser1977=) | |
| 5 | g.128300900G>A | CA360766520 | FBN2 | n.2867C>T n.2786C>T c.6083C>T (p.Ser2028Phe) c.6080C>T (p.Ser2027Phe) c.5930C>T (p.Ser1977Phe) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128300900G>C | CA360766522 | FBN2 | n.2867C>G n.2786C>G c.6083C>G (p.Ser2028Cys) c.6080C>G (p.Ser2027Cys) c.5930C>G (p.Ser1977Cys) | |
| 5 | g.128300900G= | CA1581253480 | FBN2 | n.2867C= n.2786C= c.6083C= (p.Ser2028=) c.6080C= (p.Ser2027=) c.5930C= (p.Ser1977=) | |
| 5 | g.128300900G>T | CA360766524 | FBN2 | n.2867C>A n.2786C>A c.6083C>A (p.Ser2028Tyr) c.6080C>A (p.Ser2027Tyr) c.5930C>A (p.Ser1977Tyr) | |
| 5 | g.128300901A>C | CA360766526 | FBN2 | n.2866T>G n.2785T>G c.6082T>G (p.Ser2028Ala) c.6079T>G (p.Ser2027Ala) c.5929T>G (p.Ser1977Ala) | |
| 5 | g.128300901A>G | CA360766530 | FBN2 | n.2866T>C n.2785T>C c.6082T>C (p.Ser2028Pro) c.6079T>C (p.Ser2027Pro) c.5929T>C (p.Ser1977Pro) | gnomAD v4 |
| 5 | g.128300901A>T | CA360766528 | FBN2 | n.2866T>A n.2785T>A c.6082T>A (p.Ser2028Thr) c.6079T>A (p.Ser2027Thr) c.5929T>A (p.Ser1977Thr) | |
| 5 | g.128300902G>A | CA446309275 | FBN2 | n.2865C>T n.2784C>T c.6081C>T (p.Cys2027=) c.6078C>T (p.Cys2026=) c.5928C>T (p.Cys1976=) | |
| 5 | g.128300902G>C | CA360766532 | FBN2 | n.2865C>G n.2784C>G c.6081C>G (p.Cys2027Trp) c.6078C>G (p.Cys2026Trp) c.5928C>G (p.Cys1976Trp) | |
| 5 | g.128300902G>T | CA360766534 | FBN2 | n.2865C>A n.2784C>A c.6081C>A (p.Cys2027Ter) c.6078C>A (p.Cys2026Ter) c.5928C>A (p.Cys1976Ter) | |
| 5 | g.128300903C>A | CA360766536 | FBN2 | n.2864G>T n.2783G>T c.6080G>T (p.Cys2027Phe) c.6077G>T (p.Cys2026Phe) c.5927G>T (p.Cys1976Phe) | |
| 5 | g.128300903C>G | CA360766537 | FBN2 | n.2864G>C n.2783G>C c.6080G>C (p.Cys2027Ser) c.6077G>C (p.Cys2026Ser) c.5927G>C (p.Cys1976Ser) | |
| 5 | g.128300903C>T | CA360766539 | FBN2 | n.2864G>A n.2783G>A c.6080G>A (p.Cys2027Tyr) c.6077G>A (p.Cys2026Tyr) c.5927G>A (p.Cys1976Tyr) | |
| 5 | g.128300904A>C | CA360766541 | FBN2 | n.2863T>G n.2782T>G c.6079T>G (p.Cys2027Gly) c.6076T>G (p.Cys2026Gly) c.5926T>G (p.Cys1976Gly) | |
| 5 | g.128300904A>G | CA360766542 | FBN2 | n.2863T>C n.2782T>C c.6079T>C (p.Cys2027Arg) c.6076T>C (p.Cys2026Arg) c.5926T>C (p.Cys1976Arg) | |
| 5 | g.128300904A>T | CA360766545 | FBN2 | n.2863T>A n.2782T>A c.6079T>A (p.Cys2027Ser) c.6076T>A (p.Cys2026Ser) c.5926T>A (p.Cys1976Ser) | |
| 5 | g.128300905A>C | CA446309280 | FBN2 | n.2862T>G n.2781T>G c.6078T>G (p.Ser2026=) c.6075T>G (p.Ser2025=) c.5925T>G (p.Ser1975=) | |
| 5 | g.128300905A>G | CA446309279 | FBN2 | n.2862T>C n.2781T>C c.6078T>C (p.Ser2026=) c.6075T>C (p.Ser2025=) c.5925T>C (p.Ser1975=) | gnomAD v4 |
| 5 | g.128300905A>T | CA446309281 | FBN2 | n.2862T>A n.2781T>A c.6078T>A (p.Ser2026=) c.6075T>A (p.Ser2025=) c.5925T>A (p.Ser1975=) | |
| 5 | g.128300906G>A | CA3394502 | FBN2 | n.2861C>T n.2780C>T c.6077C>T (p.Ser2026Phe) c.6074C>T (p.Ser2025Phe) c.5924C>T (p.Ser1975Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128300906G>C | CA360766549 | FBN2 | n.2861C>G n.2780C>G c.6077C>G (p.Ser2026Cys) c.6074C>G (p.Ser2025Cys) c.5924C>G (p.Ser1975Cys) | |
| 5 | g.128300906G= | CA1581253481 | FBN2 | n.2861C= n.2780C= c.6077C= (p.Ser2026=) c.6074C= (p.Ser2025=) c.5924C= (p.Ser1975=) | |
| 5 | g.128300906G>T | CA360766551 | FBN2 | n.2861C>A n.2780C>A c.6077C>A (p.Ser2026Tyr) c.6074C>A (p.Ser2025Tyr) c.5924C>A (p.Ser1975Tyr) |