| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335418_128335421dup | CA562715414 | FBN2 | n.631+38_631+41dup n.712+38_712+41dup c.3847+38_3847+41dup (n.3847+38_3847+41dup) c.397+38_397+41dup (n.397+38_397+41dup) c.3748+38_3748+41dup (n.3748+38_3748+41dup) c.3844+38_3844+41dup (n.3844+38_3844+41dup) c.3694+38_3694+41dup (n.3694+38_3694+41dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335418_128335421del | CA3395124 | FBN2 | n.631+38_631+41del n.712+38_712+41del c.3847+38_3847+41del (n.3847+38_3847+41del) c.397+38_397+41del (n.397+38_397+41del) c.3748+38_3748+41del (n.3748+38_3748+41del) c.3844+38_3844+41del (n.3844+38_3844+41del) c.3694+38_3694+41del (n.3694+38_3694+41del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335419T>C | CA1081364555 | FBN2 | n.631+36A>G n.712+36A>G c.3847+36A>G (n.3847+36A>G) c.397+36A>G (n.397+36A>G) c.3748+36A>G (n.3748+36A>G) c.3844+36A>G (n.3844+36A>G) c.3694+36A>G (n.3694+36A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335419T= | CA1581269580 | FBN2 | n.631+36A= n.712+36A= c.3847+36A= (n.3847+36A=) c.397+36A= (n.397+36A=) c.3748+36A= (n.3748+36A=) c.3844+36A= (n.3844+36A=) c.3694+36A= (n.3694+36A=) | |
| 5 | g.128335421_128335422del | CA2675117116 | FBN2 | n.631+34_631+35del n.712+34_712+35del c.3847+34_3847+35del (n.3847+34_3847+35del) c.397+34_397+35del (n.397+34_397+35del) c.3748+34_3748+35del (n.3748+34_3748+35del) c.3844+34_3844+35del (n.3844+34_3844+35del) c.3694+34_3694+35del (n.3694+34_3694+35del) | gnomAD v4 |
| 5 | g.128335421G>C | CA2675117117 | FBN2 | n.631+34C>G n.712+34C>G c.3847+34C>G (n.3847+34C>G) c.397+34C>G (n.397+34C>G) c.3748+34C>G (n.3748+34C>G) c.3844+34C>G (n.3844+34C>G) c.3694+34C>G (n.3694+34C>G) | gnomAD v4 |
| 5 | g.128335423T>G | CA3395128 | FBN2 | n.631+32A>C n.712+32A>C c.3847+32A>C (n.3847+32A>C) c.397+32A>C (n.397+32A>C) c.3748+32A>C (n.3748+32A>C) c.3844+32A>C (n.3844+32A>C) c.3694+32A>C (n.3694+32A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335423T= | CA1581269581 | FBN2 | n.631+32A= n.712+32A= c.3847+32A= (n.3847+32A=) c.397+32A= (n.397+32A=) c.3748+32A= (n.3748+32A=) c.3844+32A= (n.3844+32A=) c.3694+32A= (n.3694+32A=) | |
| 5 | g.128335424G>A | CA2675117118 | FBN2 | n.631+31C>T n.712+31C>T c.3847+31C>T (n.3847+31C>T) c.397+31C>T (n.397+31C>T) c.3748+31C>T (n.3748+31C>T) c.3844+31C>T (n.3844+31C>T) c.3694+31C>T (n.3694+31C>T) | gnomAD v4 |
| 5 | g.128335427C>A | CA2675117119 | FBN2 | n.631+28G>T n.712+28G>T c.3847+28G>T (n.3847+28G>T) c.397+28G>T (n.397+28G>T) c.3748+28G>T (n.3748+28G>T) c.3844+28G>T (n.3844+28G>T) c.3694+28G>T (n.3694+28G>T) | gnomAD v4 |
| 5 | g.128335428A= | CA1581269582 | FBN2 | n.631+27T= n.712+27T= c.3847+27T= (n.3847+27T=) c.397+27T= (n.397+27T=) c.3748+27T= (n.3748+27T=) c.3844+27T= (n.3844+27T=) c.3694+27T= (n.3694+27T=) | |
| 5 | g.128335428A>C | CA1581269583 | FBN2 | n.631+27T>G n.712+27T>G c.3847+27T>G (n.3847+27T>G) c.397+27T>G (n.397+27T>G) c.3748+27T>G (n.3748+27T>G) c.3844+27T>G (n.3844+27T>G) c.3694+27T>G (n.3694+27T>G) | dbSNP |
| 5 | g.128335431A= | CA1581269584 | FBN2 | n.631+24T= n.712+24T= c.3847+24T= (n.3847+24T=) c.397+24T= (n.397+24T=) c.3748+24T= (n.3748+24T=) c.3844+24T= (n.3844+24T=) c.3694+24T= (n.3694+24T=) | |
| 5 | g.128335431A>G | CA1581269585 | FBN2 | n.631+24T>C n.712+24T>C c.3847+24T>C (n.3847+24T>C) c.397+24T>C (n.397+24T>C) c.3748+24T>C (n.3748+24T>C) c.3844+24T>C (n.3844+24T>C) c.3694+24T>C (n.3694+24T>C) | dbSNP gnomAD v4 |
| 5 | g.128335431A>T | CA2675117120 | FBN2 | n.631+24T>A n.712+24T>A c.3847+24T>A (n.3847+24T>A) c.397+24T>A (n.397+24T>A) c.3748+24T>A (n.3748+24T>A) c.3844+24T>A (n.3844+24T>A) c.3694+24T>A (n.3694+24T>A) | gnomAD v4 |
| 5 | g.128335432C>A | CA3395129 | FBN2 | n.631+23G>T n.712+23G>T c.3847+23G>T (n.3847+23G>T) c.397+23G>T (n.397+23G>T) c.3748+23G>T (n.3748+23G>T) c.3844+23G>T (n.3844+23G>T) c.3694+23G>T (n.3694+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335432C= | CA1581269586 | FBN2 | n.631+23G= n.712+23G= c.3847+23G= (n.3847+23G=) c.397+23G= (n.397+23G=) c.3748+23G= (n.3748+23G=) c.3844+23G= (n.3844+23G=) c.3694+23G= (n.3694+23G=) | |
| 5 | g.128335432C>T | CA2675117122 | FBN2 | n.631+23G>A n.712+23G>A c.3847+23G>A (n.3847+23G>A) c.397+23G>A (n.397+23G>A) c.3748+23G>A (n.3748+23G>A) c.3844+23G>A (n.3844+23G>A) c.3694+23G>A (n.3694+23G>A) | gnomAD v4 |
| 5 | g.128335433del | CA2675117121 | FBN2 | n.631+23del n.712+23del c.3847+23del (n.3847+23del) c.397+23del (n.397+23del) c.3748+23del (n.3748+23del) c.3844+23del (n.3844+23del) c.3694+23del (n.3694+23del) | gnomAD v4 |
| 5 | g.128335433_128335435delinsCTG | CA1581269587 | FBN2 | n.631+20_631+22delinsCAG n.712+20_712+22delinsCAG c.3847+20_3847+22delinsCAG (n.3847+20_3847+22delinsCAG) c.397+20_397+22delinsCAG (n.397+20_397+22delinsCAG) c.3748+20_3748+22delinsCAG (n.3748+20_3748+22delinsCAG) c.3844+20_3844+22delinsCAG (n.3844+20_3844+22delinsCAG) c.3694+20_3694+22delinsCAG (n.3694+20_3694+22delinsCAG) | |
| 5 | g.128335434T>C | CA3395130 | FBN2 | n.631+21A>G n.712+21A>G c.3847+21A>G (n.3847+21A>G) c.397+21A>G (n.397+21A>G) c.3748+21A>G (n.3748+21A>G) c.3844+21A>G (n.3844+21A>G) c.3694+21A>G (n.3694+21A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335434T= | CA1581269589 | FBN2 | n.631+21A= n.712+21A= c.3847+21A= (n.3847+21A=) c.397+21A= (n.397+21A=) c.3748+21A= (n.3748+21A=) c.3844+21A= (n.3844+21A=) c.3694+21A= (n.3694+21A=) | |
| 5 | g.128335439_128335440del | CA1581269588 | FBN2 | n.631+20_631+21del n.712+20_712+21del c.3847+20_3847+21del (n.3847+20_3847+21del) c.397+20_397+21del (n.397+20_397+21del) c.3748+20_3748+21del (n.3748+20_3748+21del) c.3844+20_3844+21del (n.3844+20_3844+21del) c.3694+20_3694+21del (n.3694+20_3694+21del) | dbSNP gnomAD v4 |
| 5 | g.128335436T>C | CA2675117123 | FBN2 | n.631+19A>G n.712+19A>G c.3847+19A>G (n.3847+19A>G) c.397+19A>G (n.397+19A>G) c.3748+19A>G (n.3748+19A>G) c.3844+19A>G (n.3844+19A>G) c.3694+19A>G (n.3694+19A>G) | gnomAD v4 |
| 5 | g.128335437_128335443del | CA2675117124 | FBN2 | n.631+13_631+19del n.712+13_712+19del c.3847+13_3847+19del (n.3847+13_3847+19del) c.397+13_397+19del (n.397+13_397+19del) c.3748+13_3748+19del (n.3748+13_3748+19del) c.3844+13_3844+19del (n.3844+13_3844+19del) c.3694+13_3694+19del (n.3694+13_3694+19del) | gnomAD v4 |
| 5 | g.128335437G>T | CA2675117125 | FBN2 | n.631+18C>A n.712+18C>A c.3847+18C>A (n.3847+18C>A) c.397+18C>A (n.397+18C>A) c.3748+18C>A (n.3748+18C>A) c.3844+18C>A (n.3844+18C>A) c.3694+18C>A (n.3694+18C>A) | gnomAD v4 |
| 5 | g.128335439G>A | CA2675117126 | FBN2 | n.631+16C>T n.712+16C>T c.3847+16C>T (n.3847+16C>T) c.397+16C>T (n.397+16C>T) c.3748+16C>T (n.3748+16C>T) c.3844+16C>T (n.3844+16C>T) c.3694+16C>T (n.3694+16C>T) | gnomAD v4 |
| 5 | g.128335444C>A | CA562715420 | FBN2 | n.631+11G>T n.712+11G>T c.3847+11G>T (n.3847+11G>T) c.397+11G>T (n.397+11G>T) c.3748+11G>T (n.3748+11G>T) c.3844+11G>T (n.3844+11G>T) c.3694+11G>T (n.3694+11G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335444C= | CA1581269590 | FBN2 | n.631+11G= n.712+11G= c.3847+11G= (n.3847+11G=) c.397+11G= (n.397+11G=) c.3748+11G= (n.3748+11G=) c.3844+11G= (n.3844+11G=) c.3694+11G= (n.3694+11G=) | |
| 5 | g.128335446T>C | CA2768335854 | FBN2 | n.631+9A>G n.712+9A>G c.3847+9A>G (n.3847+9A>G) c.397+9A>G (n.397+9A>G) c.3748+9A>G (n.3748+9A>G) c.3844+9A>G (n.3844+9A>G) c.3694+9A>G (n.3694+9A>G) | |
| 5 | g.128335449C= | CA1581269591 | FBN2 | n.631+6G= n.712+6G= c.3847+6G= (n.3847+6G=) c.397+6G= (n.397+6G=) c.3748+6G= (n.3748+6G=) c.3844+6G= (n.3844+6G=) c.3694+6G= (n.3694+6G=) | |
| 5 | g.128335449C>T | CA1581269592 | FBN2 | n.631+6G>A n.712+6G>A c.3847+6G>A (n.3847+6G>A) c.397+6G>A (n.397+6G>A) c.3748+6G>A (n.3748+6G>A) c.3844+6G>A (n.3844+6G>A) c.3694+6G>A (n.3694+6G>A) | dbSNP |
| 5 | g.128335450T>C | CA562715421 | FBN2 | n.631+5A>G n.712+5A>G c.3847+5A>G (n.3847+5A>G) c.397+5A>G (n.397+5A>G) c.3748+5A>G (n.3748+5A>G) c.3844+5A>G (n.3844+5A>G) c.3694+5A>G (n.3694+5A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335450T= | CA1581269593 | FBN2 | n.631+5A= n.712+5A= c.3847+5A= (n.3847+5A=) c.397+5A= (n.397+5A=) c.3748+5A= (n.3748+5A=) c.3844+5A= (n.3844+5A=) c.3694+5A= (n.3694+5A=) | |
| 5 | g.128335451A>G | CA2675117127 | FBN2 | n.631+4T>C n.712+4T>C c.3847+4T>C (n.3847+4T>C) c.397+4T>C (n.397+4T>C) c.3748+4T>C (n.3748+4T>C) c.3844+4T>C (n.3844+4T>C) c.3694+4T>C (n.3694+4T>C) | gnomAD v4 |
| 5 | g.128335452T>C | CA2675117128 | FBN2 | n.631+3A>G n.712+3A>G c.3847+3A>G (n.3847+3A>G) c.397+3A>G (n.397+3A>G) c.3748+3A>G (n.3748+3A>G) c.3844+3A>G (n.3844+3A>G) c.3694+3A>G (n.3694+3A>G) | gnomAD v4 |
| 5 | g.128335453A>C | CA360757886 | FBN2 | n.631+2T>G n.712+2T>G c.3847+2T>G (n.3847+2T>G) c.397+2T>G (n.397+2T>G) c.3748+2T>G (n.3748+2T>G) c.3844+2T>G (n.3844+2T>G) c.3694+2T>G (n.3694+2T>G) | |
| 5 | g.128335453A>G | CA360757887 | FBN2 | n.631+2T>C n.712+2T>C c.3847+2T>C (n.3847+2T>C) c.397+2T>C (n.397+2T>C) c.3748+2T>C (n.3748+2T>C) c.3844+2T>C (n.3844+2T>C) c.3694+2T>C (n.3694+2T>C) | |
| 5 | g.128335453A>T | CA360757888 | FBN2 | n.631+2T>A n.712+2T>A c.3847+2T>A (n.3847+2T>A) c.397+2T>A (n.397+2T>A) c.3748+2T>A (n.3748+2T>A) c.3844+2T>A (n.3844+2T>A) c.3694+2T>A (n.3694+2T>A) | |
| 5 | g.128335454C>A | CA321134 | FBN2 | n.631+1G>T n.712+1G>T c.3847+1G>T (n.3847+1G>T) c.397+1G>T (n.397+1G>T) c.3748+1G>T (n.3748+1G>T) c.3844+1G>T (n.3844+1G>T) c.3694+1G>T (n.3694+1G>T) | ClinVar dbSNP |
| 5 | g.128335454C= | CA1581269594 | FBN2 | n.631+1G= n.712+1G= c.3847+1G= (n.3847+1G=) c.397+1G= (n.397+1G=) c.3748+1G= (n.3748+1G=) c.3844+1G= (n.3844+1G=) c.3694+1G= (n.3694+1G=) | |
| 5 | g.128335454C>G | CA360757889 | FBN2 | n.631+1G>C n.712+1G>C c.3847+1G>C (n.3847+1G>C) c.397+1G>C (n.397+1G>C) c.3748+1G>C (n.3748+1G>C) c.3844+1G>C (n.3844+1G>C) c.3694+1G>C (n.3694+1G>C) | |
| 5 | g.128335454C>T | CA360757890 | FBN2 | n.631+1G>A n.712+1G>A c.3847+1G>A (n.3847+1G>A) c.397+1G>A (n.397+1G>A) c.3748+1G>A (n.3748+1G>A) c.3844+1G>A (n.3844+1G>A) c.3694+1G>A (n.3694+1G>A) | gnomAD v4 |
| 5 | g.128335455C>A | CA360757891 | FBN2 | n.631G>T n.712G>T c.3847G>T (p.Asp1283Tyr) c.397G>T (p.Asp133Tyr) c.3748G>T (p.Asp1250Tyr) c.3844G>T (p.Asp1282Tyr) c.3694G>T (p.Asp1232Tyr) | |
| 5 | g.128335455C>G | CA360757893 | FBN2 | n.631G>C n.712G>C c.3847G>C (p.Asp1283His) c.397G>C (p.Asp133His) c.3748G>C (p.Asp1250His) c.3844G>C (p.Asp1282His) c.3694G>C (p.Asp1232His) | |
| 5 | g.128335455C>T | CA360757892 | FBN2 | n.631G>A n.712G>A c.3847G>A (p.Asp1283Asn) c.397G>A (p.Asp133Asn) c.3748G>A (p.Asp1250Asn) c.3844G>A (p.Asp1282Asn) c.3694G>A (p.Asp1232Asn) | |
| 5 | g.128335456T>A | CA446310113 | FBN2 | n.630A>T n.711A>T c.3846A>T (p.Ala1282=) c.396A>T (p.Ala132=) c.3747A>T (p.Ala1249=) c.3843A>T (p.Ala1281=) c.3693A>T (p.Ala1231=) | |
| 5 | g.128335456T>C | CA446310114 | FBN2 | n.630A>G n.711A>G c.3846A>G (p.Ala1282=) c.396A>G (p.Ala132=) c.3747A>G (p.Ala1249=) c.3843A>G (p.Ala1281=) c.3693A>G (p.Ala1231=) | |
| 5 | g.128335456T>G | CA446310115 | FBN2 | n.630A>C n.711A>C c.3846A>C (p.Ala1282=) c.396A>C (p.Ala132=) c.3747A>C (p.Ala1249=) c.3843A>C (p.Ala1281=) c.3693A>C (p.Ala1231=) | |
| 5 | g.128335457G>A | CA360757894 | FBN2 | n.629C>T n.710C>T c.3845C>T (p.Ala1282Val) c.395C>T (p.Ala132Val) c.3746C>T (p.Ala1249Val) c.3842C>T (p.Ala1281Val) c.3692C>T (p.Ala1231Val) | |
| 5 | g.128335457G>C | CA360757895 | FBN2 | n.629C>G n.710C>G c.3845C>G (p.Ala1282Gly) c.395C>G (p.Ala132Gly) c.3746C>G (p.Ala1249Gly) c.3842C>G (p.Ala1281Gly) c.3692C>G (p.Ala1231Gly) | |
| 5 | g.128335457G>T | CA360757896 | FBN2 | n.629C>A n.710C>A c.3845C>A (p.Ala1282Glu) c.395C>A (p.Ala132Glu) c.3746C>A (p.Ala1249Glu) c.3842C>A (p.Ala1281Glu) c.3692C>A (p.Ala1231Glu) | |
| 5 | g.128335458C>A | CA360757897 | FBN2 | n.628G>T n.709G>T c.3844G>T (p.Ala1282Ser) c.394G>T (p.Ala132Ser) c.3745G>T (p.Ala1249Ser) c.3841G>T (p.Ala1281Ser) c.3691G>T (p.Ala1231Ser) | |
| 5 | g.128335458C>G | CA360757898 | FBN2 | n.628G>C n.709G>C c.3844G>C (p.Ala1282Pro) c.394G>C (p.Ala132Pro) c.3745G>C (p.Ala1249Pro) c.3841G>C (p.Ala1281Pro) c.3691G>C (p.Ala1231Pro) | |
| 5 | g.128335458C>T | CA360757899 | FBN2 | n.628G>A n.709G>A c.3844G>A (p.Ala1282Thr) c.394G>A (p.Ala132Thr) c.3745G>A (p.Ala1249Thr) c.3841G>A (p.Ala1281Thr) c.3691G>A (p.Ala1231Thr) | |
| 5 | g.128335459A>C | CA360757900 | FBN2 | n.627T>G n.708T>G c.3843T>G (p.Cys1281Trp) c.393T>G (p.Cys131Trp) c.3744T>G (p.Cys1248Trp) c.3840T>G (p.Cys1280Trp) c.3690T>G (p.Cys1230Trp) | |
| 5 | g.128335459A>G | CA446310117 | FBN2 | n.627T>C n.708T>C c.3843T>C (p.Cys1281=) c.393T>C (p.Cys131=) c.3744T>C (p.Cys1248=) c.3840T>C (p.Cys1280=) c.3690T>C (p.Cys1230=) | |
| 5 | g.128335459A>T | CA360757901 | FBN2 | n.627T>A n.708T>A c.3843T>A (p.Cys1281Ter) c.393T>A (p.Cys131Ter) c.3744T>A (p.Cys1248Ter) c.3840T>A (p.Cys1280Ter) c.3690T>A (p.Cys1230Ter) | |
| 5 | g.128335460C>A | CA360757902 | FBN2 | n.626G>T n.707G>T c.3842G>T (p.Cys1281Phe) c.392G>T (p.Cys131Phe) c.3743G>T (p.Cys1248Phe) c.3839G>T (p.Cys1280Phe) c.3689G>T (p.Cys1230Phe) | |
| 5 | g.128335460C>G | CA360757903 | FBN2 | n.626G>C n.707G>C c.3842G>C (p.Cys1281Ser) c.392G>C (p.Cys131Ser) c.3743G>C (p.Cys1248Ser) c.3839G>C (p.Cys1280Ser) c.3689G>C (p.Cys1230Ser) | |
| 5 | g.128335460C>T | CA360757904 | FBN2 | n.626G>A n.707G>A c.3842G>A (p.Cys1281Tyr) c.392G>A (p.Cys131Tyr) c.3743G>A (p.Cys1248Tyr) c.3839G>A (p.Cys1280Tyr) c.3689G>A (p.Cys1230Tyr) | |
| 5 | g.128335461A>C | CA360757905 | FBN2 | n.625T>G n.706T>G c.3841T>G (p.Cys1281Gly) c.391T>G (p.Cys131Gly) c.3742T>G (p.Cys1248Gly) c.3838T>G (p.Cys1280Gly) c.3688T>G (p.Cys1230Gly) | |
| 5 | g.128335461A>G | CA360757907 | FBN2 | n.625T>C n.706T>C c.3841T>C (p.Cys1281Arg) c.391T>C (p.Cys131Arg) c.3742T>C (p.Cys1248Arg) c.3838T>C (p.Cys1280Arg) c.3688T>C (p.Cys1230Arg) | |
| 5 | g.128335461A>T | CA360757906 | FBN2 | n.625T>A n.706T>A c.3841T>A (p.Cys1281Ser) c.391T>A (p.Cys131Ser) c.3742T>A (p.Cys1248Ser) c.3838T>A (p.Cys1280Ser) c.3688T>A (p.Cys1230Ser) | |
| 5 | g.128335462C>A | CA446310118 | FBN2 | n.624G>T n.705G>T c.3840G>T (p.Ser1280=) c.390G>T (p.Ser130=) c.3741G>T (p.Ser1247=) c.3837G>T (p.Ser1279=) c.3687G>T (p.Ser1229=) | |
| 5 | g.128335462C= | CA1581269595 | FBN2 | n.624G= n.705G= c.3840G= (p.Ser1280=) c.390G= (p.Ser130=) c.3741G= (p.Ser1247=) c.3837G= (p.Ser1279=) c.3687G= (p.Ser1229=) | |
| 5 | g.128335462C>G | CA446310119 | FBN2 | n.624G>C n.705G>C c.3840G>C (p.Ser1280=) c.390G>C (p.Ser130=) c.3741G>C (p.Ser1247=) c.3837G>C (p.Ser1279=) c.3687G>C (p.Ser1229=) | |
| 5 | g.128335462C>T | CA3395131 | FBN2 | n.624G>A n.705G>A c.3840G>A (p.Ser1280=) c.390G>A (p.Ser130=) c.3741G>A (p.Ser1247=) c.3837G>A (p.Ser1279=) c.3687G>A (p.Ser1229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335463G>A | CA324510 | FBN2 | n.623C>T n.704C>T c.3839C>T (p.Ser1280Leu) c.389C>T (p.Ser130Leu) c.3740C>T (p.Ser1247Leu) c.3836C>T (p.Ser1279Leu) c.3686C>T (p.Ser1229Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335463G>C | CA360757908 | FBN2 | n.623C>G n.704C>G c.3839C>G (p.Ser1280Trp) c.389C>G (p.Ser130Trp) c.3740C>G (p.Ser1247Trp) c.3836C>G (p.Ser1279Trp) c.3686C>G (p.Ser1229Trp) | |
| 5 | g.128335463G= | CA1581269596 | FBN2 | n.623C= n.704C= c.3839C= (p.Ser1280=) c.389C= (p.Ser130=) c.3740C= (p.Ser1247=) c.3836C= (p.Ser1279=) c.3686C= (p.Ser1229=) | |
| 5 | g.128335463G>T | CA360757909 | FBN2 | n.623C>A n.704C>A c.3839C>A (p.Ser1280Ter) c.389C>A (p.Ser130Ter) c.3740C>A (p.Ser1247Ter) c.3836C>A (p.Ser1279Ter) c.3686C>A (p.Ser1229Ter) | |
| 5 | g.128335464A>C | CA360757910 | FBN2 | n.622T>G n.703T>G c.3838T>G (p.Ser1280Ala) c.388T>G (p.Ser130Ala) c.3739T>G (p.Ser1247Ala) c.3835T>G (p.Ser1279Ala) c.3685T>G (p.Ser1229Ala) | |
| 5 | g.128335464A>G | CA360757911 | FBN2 | n.622T>C n.703T>C c.3838T>C (p.Ser1280Pro) c.388T>C (p.Ser130Pro) c.3739T>C (p.Ser1247Pro) c.3835T>C (p.Ser1279Pro) c.3685T>C (p.Ser1229Pro) | |
| 5 | g.128335464A>T | CA360757912 | FBN2 | n.622T>A n.703T>A c.3838T>A (p.Ser1280Thr) c.388T>A (p.Ser130Thr) c.3739T>A (p.Ser1247Thr) c.3835T>A (p.Ser1279Thr) c.3685T>A (p.Ser1229Thr) | |
| 5 | g.128335465T>A | CA360757913 | FBN2 | n.621A>T n.702A>T c.3837A>T (p.Arg1279Ser) c.387A>T (p.Arg129Ser) c.3738A>T (p.Arg1246Ser) c.3834A>T (p.Arg1278Ser) c.3684A>T (p.Arg1228Ser) | |
| 5 | g.128335465T>C | CA446310120 | FBN2 | n.621A>G n.702A>G c.3837A>G (p.Arg1279=) c.387A>G (p.Arg129=) c.3738A>G (p.Arg1246=) c.3834A>G (p.Arg1278=) c.3684A>G (p.Arg1228=) | |
| 5 | g.128335465T>G | CA360757914 | FBN2 | n.621A>C n.702A>C c.3837A>C (p.Arg1279Ser) c.387A>C (p.Arg129Ser) c.3738A>C (p.Arg1246Ser) c.3834A>C (p.Arg1278Ser) c.3684A>C (p.Arg1228Ser) | |
| 5 | g.128335466C>A | CA360757915 | FBN2 | n.620G>T n.701G>T c.3836G>T (p.Arg1279Ile) c.386G>T (p.Arg129Ile) c.3737G>T (p.Arg1246Ile) c.3833G>T (p.Arg1278Ile) c.3683G>T (p.Arg1228Ile) | |
| 5 | g.128335466C>G | CA360757916 | FBN2 | n.620G>C n.701G>C c.3836G>C (p.Arg1279Thr) c.386G>C (p.Arg129Thr) c.3737G>C (p.Arg1246Thr) c.3833G>C (p.Arg1278Thr) c.3683G>C (p.Arg1228Thr) | |
| 5 | g.128335466C>T | CA360757917 | FBN2 | n.620G>A n.701G>A c.3836G>A (p.Arg1279Lys) c.386G>A (p.Arg129Lys) c.3737G>A (p.Arg1246Lys) c.3833G>A (p.Arg1278Lys) c.3683G>A (p.Arg1228Lys) | |
| 5 | g.128335467T>A | CA360757918 | FBN2 | n.619A>T n.700A>T c.3835A>T (p.Arg1279Ter) c.385A>T (p.Arg129Ter) c.3736A>T (p.Arg1246Ter) c.3832A>T (p.Arg1278Ter) c.3682A>T (p.Arg1228Ter) | |
| 5 | g.128335467T>C | CA360757919 | FBN2 | n.619A>G n.700A>G c.3835A>G (p.Arg1279Gly) c.385A>G (p.Arg129Gly) c.3736A>G (p.Arg1246Gly) c.3832A>G (p.Arg1278Gly) c.3682A>G (p.Arg1228Gly) | ClinVar dbSNP |
| 5 | g.128335467T>G | CA446310121 | FBN2 | n.619A>C n.700A>C c.3835A>C (p.Arg1279=) c.385A>C (p.Arg129=) c.3736A>C (p.Arg1246=) c.3832A>C (p.Arg1278=) c.3682A>C (p.Arg1228=) | |
| 5 | g.128335467T= | CA1581269597 | FBN2 | n.619A= n.700A= c.3835A= (p.Arg1279=) c.385A= (p.Arg129=) c.3736A= (p.Arg1246=) c.3832A= (p.Arg1278=) c.3682A= (p.Arg1228=) | |
| 5 | g.128335468C>A | CA446310124 | FBN2 | n.618G>T n.699G>T c.3834G>T (p.Gly1278=) c.384G>T (p.Gly128=) c.3735G>T (p.Gly1245=) c.3831G>T (p.Gly1277=) c.3681G>T (p.Gly1227=) | |
| 5 | g.128335468C>G | CA446310122 | FBN2 | n.618G>C n.699G>C c.3834G>C (p.Gly1278=) c.384G>C (p.Gly128=) c.3735G>C (p.Gly1245=) c.3831G>C (p.Gly1277=) c.3681G>C (p.Gly1227=) | |
| 5 | g.128335468C>T | CA446310123 | FBN2 | n.618G>A n.699G>A c.3834G>A (p.Gly1278=) c.384G>A (p.Gly128=) c.3735G>A (p.Gly1245=) c.3831G>A (p.Gly1277=) c.3681G>A (p.Gly1227=) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128335469C>A | CA360757920 | FBN2 | n.617G>T n.698G>T c.3833G>T (p.Gly1278Val) c.383G>T (p.Gly128Val) c.3734G>T (p.Gly1245Val) c.3830G>T (p.Gly1277Val) c.3680G>T (p.Gly1227Val) | |
| 5 | g.128335469C= | CA1581269598 | FBN2 | n.617G= n.698G= c.3833G= (p.Gly1278=) c.383G= (p.Gly128=) c.3734G= (p.Gly1245=) c.3830G= (p.Gly1277=) c.3680G= (p.Gly1227=) | |
| 5 | g.128335469C>G | CA360757921 | FBN2 | n.617G>C n.698G>C c.3833G>C (p.Gly1278Ala) c.383G>C (p.Gly128Ala) c.3734G>C (p.Gly1245Ala) c.3830G>C (p.Gly1277Ala) c.3680G>C (p.Gly1227Ala) | |
| 5 | g.128335469C>T | CA3395132 | FBN2 | n.617G>A n.698G>A c.3833G>A (p.Gly1278Glu) c.383G>A (p.Gly128Glu) c.3734G>A (p.Gly1245Glu) c.3830G>A (p.Gly1277Glu) c.3680G>A (p.Gly1227Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335470C>A | CA360757922 | FBN2 | n.616G>T n.697G>T c.3832G>T (p.Gly1278Trp) c.382G>T (p.Gly128Trp) c.3733G>T (p.Gly1245Trp) c.3829G>T (p.Gly1277Trp) c.3679G>T (p.Gly1227Trp) | gnomAD v4 |
| 5 | g.128335470C>G | CA360757923 | FBN2 | n.616G>C n.697G>C c.3832G>C (p.Gly1278Arg) c.382G>C (p.Gly128Arg) c.3733G>C (p.Gly1245Arg) c.3829G>C (p.Gly1277Arg) c.3679G>C (p.Gly1227Arg) | |
| 5 | g.128335470C>T | CA360757924 | FBN2 | n.616G>A n.697G>A c.3832G>A (p.Gly1278Arg) c.382G>A (p.Gly128Arg) c.3733G>A (p.Gly1245Arg) c.3829G>A (p.Gly1277Arg) c.3679G>A (p.Gly1227Arg) | gnomAD v4 |
| 5 | g.128335471A>C | CA360757925 | FBN2 | n.615T>G n.696T>G c.3831T>G (p.Asp1277Glu) c.381T>G (p.Asp127Glu) c.3732T>G (p.Asp1244Glu) c.3828T>G (p.Asp1276Glu) c.3678T>G (p.Asp1226Glu) | |
| 5 | g.128335471A>G | CA446310125 | FBN2 | n.615T>C n.696T>C c.3831T>C (p.Asp1277=) c.381T>C (p.Asp127=) c.3732T>C (p.Asp1244=) c.3828T>C (p.Asp1276=) c.3678T>C (p.Asp1226=) | |
| 5 | g.128335471A>T | CA360757926 | FBN2 | n.615T>A n.696T>A c.3831T>A (p.Asp1277Glu) c.381T>A (p.Asp127Glu) c.3732T>A (p.Asp1244Glu) c.3828T>A (p.Asp1276Glu) c.3678T>A (p.Asp1226Glu) | |
| 5 | g.128335472T>A | CA360757927 | FBN2 | n.614A>T n.695A>T c.3830A>T (p.Asp1277Val) c.380A>T (p.Asp127Val) c.3731A>T (p.Asp1244Val) c.3827A>T (p.Asp1276Val) c.3677A>T (p.Asp1226Val) | ClinVar |
| 5 | g.128335472T>C | CA360757928 | FBN2 | n.614A>G n.695A>G c.3830A>G (p.Asp1277Gly) c.380A>G (p.Asp127Gly) c.3731A>G (p.Asp1244Gly) c.3827A>G (p.Asp1276Gly) c.3677A>G (p.Asp1226Gly) | gnomAD v4 |
| 5 | g.128335472T>G | CA360757929 | FBN2 | n.614A>C n.695A>C c.3830A>C (p.Asp1277Ala) c.380A>C (p.Asp127Ala) c.3731A>C (p.Asp1244Ala) c.3827A>C (p.Asp1276Ala) c.3677A>C (p.Asp1226Ala) | |
| 5 | g.128335473C>A | CA360757931 | FBN2 | n.613G>T n.694G>T c.3829G>T (p.Asp1277Tyr) c.379G>T (p.Asp127Tyr) c.3730G>T (p.Asp1244Tyr) c.3826G>T (p.Asp1276Tyr) c.3676G>T (p.Asp1226Tyr) | |
| 5 | g.128335473C>G | CA360757932 | FBN2 | n.613G>C n.694G>C c.3829G>C (p.Asp1277His) c.379G>C (p.Asp127His) c.3730G>C (p.Asp1244His) c.3826G>C (p.Asp1276His) c.3676G>C (p.Asp1226His) | |
| 5 | g.128335473C>T | CA360757930 | FBN2 | n.613G>A n.694G>A c.3829G>A (p.Asp1277Asn) c.379G>A (p.Asp127Asn) c.3730G>A (p.Asp1244Asn) c.3826G>A (p.Asp1276Asn) c.3676G>A (p.Asp1226Asn) | |
| 5 | g.128335474T>A | CA446310127 | FBN2 | n.612A>T n.693A>T c.3828A>T (p.Pro1276=) c.378A>T (p.Pro126=) c.3729A>T (p.Pro1243=) c.3825A>T (p.Pro1275=) c.3675A>T (p.Pro1225=) | |
| 5 | g.128335474T>C | CA446310126 | FBN2 | n.612A>G n.693A>G c.3828A>G (p.Pro1276=) c.378A>G (p.Pro126=) c.3729A>G (p.Pro1243=) c.3825A>G (p.Pro1275=) c.3675A>G (p.Pro1225=) | |
| 5 | g.128335474T>G | CA446310128 | FBN2 | n.612A>C n.693A>C c.3828A>C (p.Pro1276=) c.378A>C (p.Pro126=) c.3729A>C (p.Pro1243=) c.3825A>C (p.Pro1275=) c.3675A>C (p.Pro1225=) | dbSNP |
| 5 | g.128335474T= | CA1581269599 | FBN2 | n.612A= n.693A= c.3828A= (p.Pro1276=) c.378A= (p.Pro126=) c.3729A= (p.Pro1243=) c.3825A= (p.Pro1275=) c.3675A= (p.Pro1225=) | |
| 5 | g.128335475G>A | CA360757935 | FBN2 | n.611C>T n.692C>T c.3827C>T (p.Pro1276Leu) c.377C>T (p.Pro126Leu) c.3728C>T (p.Pro1243Leu) c.3824C>T (p.Pro1275Leu) c.3674C>T (p.Pro1225Leu) | |
| 5 | g.128335475G>C | CA360757933 | FBN2 | n.611C>G n.692C>G c.3827C>G (p.Pro1276Arg) c.377C>G (p.Pro126Arg) c.3728C>G (p.Pro1243Arg) c.3824C>G (p.Pro1275Arg) c.3674C>G (p.Pro1225Arg) | |
| 5 | g.128335475G>T | CA360757934 | FBN2 | n.611C>A n.692C>A c.3827C>A (p.Pro1276Gln) c.377C>A (p.Pro126Gln) c.3728C>A (p.Pro1243Gln) c.3824C>A (p.Pro1275Gln) c.3674C>A (p.Pro1225Gln) | |
| 5 | g.128335476G>A | CA360757936 | FBN2 | n.610C>T n.691C>T c.3826C>T (p.Pro1276Ser) c.376C>T (p.Pro126Ser) c.3727C>T (p.Pro1243Ser) c.3823C>T (p.Pro1275Ser) c.3673C>T (p.Pro1225Ser) | |
| 5 | g.128335476G>C | CA360757937 | FBN2 | n.610C>G n.691C>G c.3826C>G (p.Pro1276Ala) c.376C>G (p.Pro126Ala) c.3727C>G (p.Pro1243Ala) c.3823C>G (p.Pro1275Ala) c.3673C>G (p.Pro1225Ala) | |
| 5 | g.128335476G>T | CA360757938 | FBN2 | n.610C>A n.691C>A c.3826C>A (p.Pro1276Thr) c.376C>A (p.Pro126Thr) c.3727C>A (p.Pro1243Thr) c.3823C>A (p.Pro1275Thr) c.3673C>A (p.Pro1225Thr) | |
| 5 | g.128335477C>A | CA360757939 | FBN2 | n.609G>T n.690G>T c.3825G>T (p.Met1275Ile) c.375G>T (p.Met125Ile) c.3726G>T (p.Met1242Ile) c.3822G>T (p.Met1274Ile) c.3672G>T (p.Met1224Ile) | gnomAD v4 |
| 5 | g.128335477C= | CA1581269600 | FBN2 | n.609G= n.690G= c.3825G= (p.Met1275=) c.375G= (p.Met125=) c.3726G= (p.Met1242=) c.3822G= (p.Met1274=) c.3672G= (p.Met1224=) | |
| 5 | g.128335477C>G | CA360757940 | FBN2 | n.609G>C n.690G>C c.3825G>C (p.Met1275Ile) c.375G>C (p.Met125Ile) c.3726G>C (p.Met1242Ile) c.3822G>C (p.Met1274Ile) c.3672G>C (p.Met1224Ile) | |
| 5 | g.128335477C>T | CA3395133 | FBN2 | n.609G>A n.690G>A c.3825G>A (p.Met1275Ile) c.375G>A (p.Met125Ile) c.3726G>A (p.Met1242Ile) c.3822G>A (p.Met1274Ile) c.3672G>A (p.Met1224Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335478A>C | CA360757941 | FBN2 | n.608T>G n.689T>G c.3824T>G (p.Met1275Arg) c.374T>G (p.Met125Arg) c.3725T>G (p.Met1242Arg) c.3821T>G (p.Met1274Arg) c.3671T>G (p.Met1224Arg) | |
| 5 | g.128335478A>G | CA360757942 | FBN2 | n.608T>C n.689T>C c.3824T>C (p.Met1275Thr) c.374T>C (p.Met125Thr) c.3725T>C (p.Met1242Thr) c.3821T>C (p.Met1274Thr) c.3671T>C (p.Met1224Thr) | |
| 5 | g.128335478A>T | CA360757943 | FBN2 | n.608T>A n.689T>A c.3824T>A (p.Met1275Lys) c.374T>A (p.Met125Lys) c.3725T>A (p.Met1242Lys) c.3821T>A (p.Met1274Lys) c.3671T>A (p.Met1224Lys) | |
| 5 | g.128335479T>A | CA360757946 | FBN2 | n.607A>T n.688A>T c.3823A>T (p.Met1275Leu) c.373A>T (p.Met125Leu) c.3724A>T (p.Met1242Leu) c.3820A>T (p.Met1274Leu) c.3670A>T (p.Met1224Leu) | |
| 5 | g.128335479T>C | CA360757945 | FBN2 | n.607A>G n.688A>G c.3823A>G (p.Met1275Val) c.373A>G (p.Met125Val) c.3724A>G (p.Met1242Val) c.3820A>G (p.Met1274Val) c.3670A>G (p.Met1224Val) | |
| 5 | g.128335479T>G | CA360757944 | FBN2 | n.607A>C n.688A>C c.3823A>C (p.Met1275Leu) c.373A>C (p.Met125Leu) c.3724A>C (p.Met1242Leu) c.3820A>C (p.Met1274Leu) c.3670A>C (p.Met1224Leu) | |
| 5 | g.128335480C>A | CA446310129 | FBN2 | n.606G>T n.687G>T c.3822G>T (p.Leu1274=) c.372G>T (p.Leu124=) c.3723G>T (p.Leu1241=) c.3819G>T (p.Leu1273=) c.3669G>T (p.Leu1223=) | |
| 5 | g.128335480C>G | CA446310130 | FBN2 | n.606G>C n.687G>C c.3822G>C (p.Leu1274=) c.372G>C (p.Leu124=) c.3723G>C (p.Leu1241=) c.3819G>C (p.Leu1273=) c.3669G>C (p.Leu1223=) | |
| 5 | g.128335480C>T | CA446310131 | FBN2 | n.606G>A n.687G>A c.3822G>A (p.Leu1274=) c.372G>A (p.Leu124=) c.3723G>A (p.Leu1241=) c.3819G>A (p.Leu1273=) c.3669G>A (p.Leu1223=) | |
| 5 | g.128335481A>C | CA360757947 | FBN2 | n.605T>G n.686T>G c.3821T>G (p.Leu1274Arg) c.371T>G (p.Leu124Arg) c.3722T>G (p.Leu1241Arg) c.3818T>G (p.Leu1273Arg) c.3668T>G (p.Leu1223Arg) | |
| 5 | g.128335481A>G | CA360757948 | FBN2 | n.605T>C n.686T>C c.3821T>C (p.Leu1274Pro) c.371T>C (p.Leu124Pro) c.3722T>C (p.Leu1241Pro) c.3818T>C (p.Leu1273Pro) c.3668T>C (p.Leu1223Pro) | gnomAD v4 |
| 5 | g.128335481A>T | CA360757949 | FBN2 | n.605T>A n.686T>A c.3821T>A (p.Leu1274Gln) c.371T>A (p.Leu124Gln) c.3722T>A (p.Leu1241Gln) c.3818T>A (p.Leu1273Gln) c.3668T>A (p.Leu1223Gln) | |
| 5 | g.128335482G>A | CA3395134 | FBN2 | n.604C>T n.685C>T c.3820C>T (p.Leu1274=) c.370C>T (p.Leu124=) c.3721C>T (p.Leu1241=) c.3817C>T (p.Leu1273=) c.3667C>T (p.Leu1223=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335482G>C | CA360757950 | FBN2 | n.604C>G n.685C>G c.3820C>G (p.Leu1274Val) c.370C>G (p.Leu124Val) c.3721C>G (p.Leu1241Val) c.3817C>G (p.Leu1273Val) c.3667C>G (p.Leu1223Val) | |
| 5 | g.128335482G= | CA1581269601 | FBN2 | n.604C= n.685C= c.3820C= (p.Leu1274=) c.370C= (p.Leu124=) c.3721C= (p.Leu1241=) c.3817C= (p.Leu1273=) c.3667C= (p.Leu1223=) | |
| 5 | g.128335482G>T | CA360757951 | FBN2 | n.604C>A n.685C>A c.3820C>A (p.Leu1274Met) c.370C>A (p.Leu124Met) c.3721C>A (p.Leu1241Met) c.3817C>A (p.Leu1273Met) c.3667C>A (p.Leu1223Met) | |
| 5 | g.128335483G>A | CA446310132 | FBN2 | n.603C>T n.684C>T c.3819C>T (p.Ala1273=) c.369C>T (p.Ala123=) c.3720C>T (p.Ala1240=) c.3816C>T (p.Ala1272=) c.3666C>T (p.Ala1222=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335483G>C | CA446310133 | FBN2 | n.603C>G n.684C>G c.3819C>G (p.Ala1273=) c.369C>G (p.Ala123=) c.3720C>G (p.Ala1240=) c.3816C>G (p.Ala1272=) c.3666C>G (p.Ala1222=) | gnomAD v4 |
| 5 | g.128335483G= | CA1581269602 | FBN2 | n.603C= n.684C= c.3819C= (p.Ala1273=) c.369C= (p.Ala123=) c.3720C= (p.Ala1240=) c.3816C= (p.Ala1272=) c.3666C= (p.Ala1222=) | |
| 5 | g.128335483G>T | CA3395135 | FBN2 | n.603C>A n.684C>A c.3819C>A (p.Ala1273=) c.369C>A (p.Ala123=) c.3720C>A (p.Ala1240=) c.3816C>A (p.Ala1272=) c.3666C>A (p.Ala1222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335484G>A | CA360757952 | FBN2 | n.602C>T n.683C>T c.3818C>T (p.Ala1273Val) c.368C>T (p.Ala123Val) c.3719C>T (p.Ala1240Val) c.3815C>T (p.Ala1272Val) c.3665C>T (p.Ala1222Val) | |
| 5 | g.128335484G>C | CA360757953 | FBN2 | n.602C>G n.683C>G c.3818C>G (p.Ala1273Gly) c.368C>G (p.Ala123Gly) c.3719C>G (p.Ala1240Gly) c.3815C>G (p.Ala1272Gly) c.3665C>G (p.Ala1222Gly) | |
| 5 | g.128335484G>T | CA360757954 | FBN2 | n.602C>A n.683C>A c.3818C>A (p.Ala1273Asp) c.368C>A (p.Ala123Asp) c.3719C>A (p.Ala1240Asp) c.3815C>A (p.Ala1272Asp) c.3665C>A (p.Ala1222Asp) | |
| 5 | g.128335485C>A | CA360757955 | FBN2 | n.601G>T n.682G>T c.3817G>T (p.Ala1273Ser) c.367G>T (p.Ala123Ser) c.3718G>T (p.Ala1240Ser) c.3814G>T (p.Ala1272Ser) c.3664G>T (p.Ala1222Ser) | |
| 5 | g.128335485C= | CA1581269603 | FBN2 | n.601G= n.682G= c.3817G= (p.Ala1273=) c.367G= (p.Ala123=) c.3718G= (p.Ala1240=) c.3814G= (p.Ala1272=) c.3664G= (p.Ala1222=) | |
| 5 | g.128335485C>G | CA360757956 | FBN2 | n.601G>C n.682G>C c.3817G>C (p.Ala1273Pro) c.367G>C (p.Ala123Pro) c.3718G>C (p.Ala1240Pro) c.3814G>C (p.Ala1272Pro) c.3664G>C (p.Ala1222Pro) | |
| 5 | g.128335485C>T | CA127013824 | FBN2 | n.601G>A n.682G>A c.3817G>A (p.Ala1273Thr) c.367G>A (p.Ala123Thr) c.3718G>A (p.Ala1240Thr) c.3814G>A (p.Ala1272Thr) c.3664G>A (p.Ala1222Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335486A>C | CA360757958 | FBN2 | n.600T>G n.681T>G c.3816T>G (p.Tyr1272Ter) c.366T>G (p.Tyr122Ter) c.3717T>G (p.Tyr1239Ter) c.3813T>G (p.Tyr1271Ter) c.3663T>G (p.Tyr1221Ter) | |
| 5 | g.128335486A>G | CA446310134 | FBN2 | n.600T>C n.681T>C c.3816T>C (p.Tyr1272=) c.366T>C (p.Tyr122=) c.3717T>C (p.Tyr1239=) c.3813T>C (p.Tyr1271=) c.3663T>C (p.Tyr1221=) | |
| 5 | g.128335486A>T | CA360757957 | FBN2 | n.600T>A n.681T>A c.3816T>A (p.Tyr1272Ter) c.366T>A (p.Tyr122Ter) c.3717T>A (p.Tyr1239Ter) c.3813T>A (p.Tyr1271Ter) c.3663T>A (p.Tyr1221Ter) | |
| 5 | g.128335487T>A | CA360757959 | FBN2 | n.599A>T n.680A>T c.3815A>T (p.Tyr1272Phe) c.365A>T (p.Tyr122Phe) c.3716A>T (p.Tyr1239Phe) c.3812A>T (p.Tyr1271Phe) c.3662A>T (p.Tyr1221Phe) | |
| 5 | g.128335487T>C | CA360757961 | FBN2 | n.599A>G n.680A>G c.3815A>G (p.Tyr1272Cys) c.365A>G (p.Tyr122Cys) c.3716A>G (p.Tyr1239Cys) c.3812A>G (p.Tyr1271Cys) c.3662A>G (p.Tyr1221Cys) | ClinVar gnomAD v4 |
| 5 | g.128335487T>G | CA360757960 | FBN2 | n.599A>C n.680A>C c.3815A>C (p.Tyr1272Ser) c.365A>C (p.Tyr122Ser) c.3716A>C (p.Tyr1239Ser) c.3812A>C (p.Tyr1271Ser) c.3662A>C (p.Tyr1221Ser) | ClinVar gnomAD v4 |
| 5 | g.128335488A= | CA1581269604 | FBN2 | n.598T= n.679T= c.3814T= (p.Tyr1272=) c.364T= (p.Tyr122=) c.3715T= (p.Tyr1239=) c.3811T= (p.Tyr1271=) c.3661T= (p.Tyr1221=) | |
| 5 | g.128335488A>C | CA360757962 | FBN2 | n.598T>G n.679T>G c.3814T>G (p.Tyr1272Asp) c.364T>G (p.Tyr122Asp) c.3715T>G (p.Tyr1239Asp) c.3811T>G (p.Tyr1271Asp) c.3661T>G (p.Tyr1221Asp) | |
| 5 | g.128335488A>G | CA360757963 | FBN2 | n.598T>C n.679T>C c.3814T>C (p.Tyr1272His) c.364T>C (p.Tyr122His) c.3715T>C (p.Tyr1239His) c.3811T>C (p.Tyr1271His) c.3661T>C (p.Tyr1221His) | |
| 5 | g.128335488A>T | CA3395136 | FBN2 | n.598T>A n.679T>A c.3814T>A (p.Tyr1272Asn) c.364T>A (p.Tyr122Asn) c.3715T>A (p.Tyr1239Asn) c.3811T>A (p.Tyr1271Asn) c.3661T>A (p.Tyr1221Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335489A>C | CA446310135 | FBN2 | n.597T>G n.678T>G c.3813T>G (p.Gly1271=) c.363T>G (p.Gly121=) c.3714T>G (p.Gly1238=) c.3810T>G (p.Gly1270=) c.3660T>G (p.Gly1220=) | |
| 5 | g.128335489A>G | CA446310136 | FBN2 | n.597T>C n.678T>C c.3813T>C (p.Gly1271=) c.363T>C (p.Gly121=) c.3714T>C (p.Gly1238=) c.3810T>C (p.Gly1270=) c.3660T>C (p.Gly1220=) | |
| 5 | g.128335489A>T | CA446310137 | FBN2 | n.597T>A n.678T>A c.3813T>A (p.Gly1271=) c.363T>A (p.Gly121=) c.3714T>A (p.Gly1238=) c.3810T>A (p.Gly1270=) c.3660T>A (p.Gly1220=) | |
| 5 | g.128335490C>A | CA360757964 | FBN2 | n.596G>T n.677G>T c.3812G>T (p.Gly1271Val) c.362G>T (p.Gly121Val) c.3713G>T (p.Gly1238Val) c.3809G>T (p.Gly1270Val) c.3659G>T (p.Gly1220Val) | |
| 5 | g.128335490C= | CA1581269605 | FBN2 | n.596G= n.677G= c.3812G= (p.Gly1271=) c.362G= (p.Gly121=) c.3713G= (p.Gly1238=) c.3809G= (p.Gly1270=) c.3659G= (p.Gly1220=) | |
| 5 | g.128335490C>G | CA360757965 | FBN2 | n.596G>C n.677G>C c.3812G>C (p.Gly1271Ala) c.362G>C (p.Gly121Ala) c.3713G>C (p.Gly1238Ala) c.3809G>C (p.Gly1270Ala) c.3659G>C (p.Gly1220Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335490C>T | CA360757966 | FBN2 | n.596G>A n.677G>A c.3812G>A (p.Gly1271Asp) c.362G>A (p.Gly121Asp) c.3713G>A (p.Gly1238Asp) c.3809G>A (p.Gly1270Asp) c.3659G>A (p.Gly1220Asp) | gnomAD v4 |
| 5 | g.128335491C>A | CA3395137 | FBN2 | n.595G>T n.676G>T c.3811G>T (p.Gly1271Cys) c.361G>T (p.Gly121Cys) c.3712G>T (p.Gly1238Cys) c.3808G>T (p.Gly1270Cys) c.3658G>T (p.Gly1220Cys) | ClinVar dbSNP ExAC gnomAD v2 |
| 5 | g.128335491C= | CA1581269606 | FBN2 | n.595G= n.676G= c.3811G= (p.Gly1271=) c.361G= (p.Gly121=) c.3712G= (p.Gly1238=) c.3808G= (p.Gly1270=) c.3658G= (p.Gly1220=) | |
| 5 | g.128335491C>G | CA360757967 | FBN2 | n.595G>C n.676G>C c.3811G>C (p.Gly1271Arg) c.361G>C (p.Gly121Arg) c.3712G>C (p.Gly1238Arg) c.3808G>C (p.Gly1270Arg) c.3658G>C (p.Gly1220Arg) | |
| 5 | g.128335491C>T | CA360757968 | FBN2 | n.595G>A n.676G>A c.3811G>A (p.Gly1271Ser) c.361G>A (p.Gly121Ser) c.3712G>A (p.Gly1238Ser) c.3808G>A (p.Gly1270Ser) c.3658G>A (p.Gly1220Ser) | |
| 5 | g.128335492C>A | CA360757969 | FBN2 | n.594G>T n.675G>T c.3810G>T (p.Glu1270Asp) c.360G>T (p.Glu120Asp) c.3711G>T (p.Glu1237Asp) c.3807G>T (p.Glu1269Asp) c.3657G>T (p.Glu1219Asp) | |
| 5 | g.128335492C>G | CA360757970 | FBN2 | n.594G>C n.675G>C c.3810G>C (p.Glu1270Asp) c.360G>C (p.Glu120Asp) c.3711G>C (p.Glu1237Asp) c.3807G>C (p.Glu1269Asp) c.3657G>C (p.Glu1219Asp) | |
| 5 | g.128335492C>T | CA446310138 | FBN2 | n.594G>A n.675G>A c.3810G>A (p.Glu1270=) c.360G>A (p.Glu120=) c.3711G>A (p.Glu1237=) c.3807G>A (p.Glu1269=) c.3657G>A (p.Glu1219=) | gnomAD v4 |
| 5 | g.128335493T>A | CA360757973 | FBN2 | n.593A>T n.674A>T c.3809A>T (p.Glu1270Val) c.359A>T (p.Glu120Val) c.3710A>T (p.Glu1237Val) c.3806A>T (p.Glu1269Val) c.3656A>T (p.Glu1219Val) | |
| 5 | g.128335493T>C | CA360757972 | FBN2 | n.593A>G n.674A>G c.3809A>G (p.Glu1270Gly) c.359A>G (p.Glu120Gly) c.3710A>G (p.Glu1237Gly) c.3806A>G (p.Glu1269Gly) c.3656A>G (p.Glu1219Gly) | |
| 5 | g.128335493T>G | CA360757971 | FBN2 | n.593A>C n.674A>C c.3809A>C (p.Glu1270Ala) c.359A>C (p.Glu120Ala) c.3710A>C (p.Glu1237Ala) c.3806A>C (p.Glu1269Ala) c.3656A>C (p.Glu1219Ala) | |
| 5 | g.128335494C>A | CA360757974 | FBN2 | n.592G>T n.673G>T c.3808G>T (p.Glu1270Ter) c.358G>T (p.Glu120Ter) c.3709G>T (p.Glu1237Ter) c.3805G>T (p.Glu1269Ter) c.3655G>T (p.Glu1219Ter) | |
| 5 | g.128335494C>G | CA360757975 | FBN2 | n.592G>C n.673G>C c.3808G>C (p.Glu1270Gln) c.358G>C (p.Glu120Gln) c.3709G>C (p.Glu1237Gln) c.3805G>C (p.Glu1269Gln) c.3655G>C (p.Glu1219Gln) | |
| 5 | g.128335494C>T | CA360757976 | FBN2 | n.592G>A n.673G>A c.3808G>A (p.Glu1270Lys) c.358G>A (p.Glu120Lys) c.3709G>A (p.Glu1237Lys) c.3805G>A (p.Glu1269Lys) c.3655G>A (p.Glu1219Lys) | |
| 5 | g.128335495A>C | CA360757977 | FBN2 | n.591T>G n.672T>G c.3807T>G (p.Ser1269Arg) c.357T>G (p.Ser119Arg) c.3708T>G (p.Ser1236Arg) c.3804T>G (p.Ser1268Arg) c.3654T>G (p.Ser1218Arg) | |
| 5 | g.128335495A>G | CA446310139 | FBN2 | n.591T>C n.672T>C c.3807T>C (p.Ser1269=) c.357T>C (p.Ser119=) c.3708T>C (p.Ser1236=) c.3804T>C (p.Ser1268=) c.3654T>C (p.Ser1218=) | |
| 5 | g.128335495A>T | CA360757978 | FBN2 | n.591T>A n.672T>A c.3807T>A (p.Ser1269Arg) c.357T>A (p.Ser119Arg) c.3708T>A (p.Ser1236Arg) c.3804T>A (p.Ser1268Arg) c.3654T>A (p.Ser1218Arg) | |
| 5 | g.128335496C>A | CA360757979 | FBN2 | n.590G>T n.671G>T c.3806G>T (p.Ser1269Ile) c.356G>T (p.Ser119Ile) c.3707G>T (p.Ser1236Ile) c.3803G>T (p.Ser1268Ile) c.3653G>T (p.Ser1218Ile) | |
| 5 | g.128335496C= | CA1581269607 | FBN2 | n.590G= n.671G= c.3806G= (p.Ser1269=) c.356G= (p.Ser119=) c.3707G= (p.Ser1236=) c.3803G= (p.Ser1268=) c.3653G= (p.Ser1218=) | |
| 5 | g.128335496C>G | CA360757980 | FBN2 | n.590G>C n.671G>C c.3806G>C (p.Ser1269Thr) c.356G>C (p.Ser119Thr) c.3707G>C (p.Ser1236Thr) c.3803G>C (p.Ser1268Thr) c.3653G>C (p.Ser1218Thr) | |
| 5 | g.128335496C>T | CA3395138 | FBN2 | n.590G>A n.671G>A c.3806G>A (p.Ser1269Asn) c.356G>A (p.Ser119Asn) c.3707G>A (p.Ser1236Asn) c.3803G>A (p.Ser1268Asn) c.3653G>A (p.Ser1218Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335497T>A | CA360757981 | FBN2 | n.589A>T n.670A>T c.3805A>T (p.Ser1269Cys) c.355A>T (p.Ser119Cys) c.3706A>T (p.Ser1236Cys) c.3802A>T (p.Ser1268Cys) c.3652A>T (p.Ser1218Cys) | |
| 5 | g.128335497T>C | CA322231 | FBN2 | n.589A>G n.670A>G c.3805A>G (p.Ser1269Gly) c.355A>G (p.Ser119Gly) c.3706A>G (p.Ser1236Gly) c.3802A>G (p.Ser1268Gly) c.3652A>G (p.Ser1218Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335497T>G | CA360757982 | FBN2 | n.589A>C n.670A>C c.3805A>C (p.Ser1269Arg) c.355A>C (p.Ser119Arg) c.3706A>C (p.Ser1236Arg) c.3802A>C (p.Ser1268Arg) c.3652A>C (p.Ser1218Arg) | |
| 5 | g.128335497T= | CA1581269608 | FBN2 | n.589A= n.670A= c.3805A= (p.Ser1269=) c.355A= (p.Ser119=) c.3706A= (p.Ser1236=) c.3802A= (p.Ser1268=) c.3652A= (p.Ser1218=) | |
| 5 | g.128335498G>A | CA446310140 | FBN2 | n.588C>T n.669C>T c.3804C>T (p.Cys1268=) c.354C>T (p.Cys118=) c.3705C>T (p.Cys1235=) c.3801C>T (p.Cys1267=) c.3651C>T (p.Cys1217=) | |
| 5 | g.128335498G>C | CA360757983 | FBN2 | n.588C>G n.669C>G c.3804C>G (p.Cys1268Trp) c.354C>G (p.Cys118Trp) c.3705C>G (p.Cys1235Trp) c.3801C>G (p.Cys1267Trp) c.3651C>G (p.Cys1217Trp) | |
| 5 | g.128335498G>T | CA360757984 | FBN2 | n.588C>A n.669C>A c.3804C>A (p.Cys1268Ter) c.354C>A (p.Cys118Ter) c.3705C>A (p.Cys1235Ter) c.3801C>A (p.Cys1267Ter) c.3651C>A (p.Cys1217Ter) | |
| 5 | g.128335499C>A | CA360757986 | FBN2 | n.587G>T n.668G>T c.3803G>T (p.Cys1268Phe) c.353G>T (p.Cys118Phe) c.3704G>T (p.Cys1235Phe) c.3800G>T (p.Cys1267Phe) c.3650G>T (p.Cys1217Phe) | ClinVar dbSNP |
| 5 | g.128335499C= | CA1581269609 | FBN2 | n.587G= n.668G= c.3803G= (p.Cys1268=) c.353G= (p.Cys118=) c.3704G= (p.Cys1235=) c.3800G= (p.Cys1267=) c.3650G= (p.Cys1217=) | |
| 5 | g.128335499C>G | CA360757987 | FBN2 | n.587G>C n.668G>C c.3803G>C (p.Cys1268Ser) c.353G>C (p.Cys118Ser) c.3704G>C (p.Cys1235Ser) c.3800G>C (p.Cys1267Ser) c.3650G>C (p.Cys1217Ser) | ClinVar dbSNP |
| 5 | g.128335499C>T | CA360757985 | FBN2 | n.587G>A n.668G>A c.3803G>A (p.Cys1268Tyr) c.353G>A (p.Cys118Tyr) c.3704G>A (p.Cys1235Tyr) c.3800G>A (p.Cys1267Tyr) c.3650G>A (p.Cys1217Tyr) | |
| 5 | g.128335500A>C | CA360757989 | FBN2 | n.586T>G n.667T>G c.3802T>G (p.Cys1268Gly) c.352T>G (p.Cys118Gly) c.3703T>G (p.Cys1235Gly) c.3799T>G (p.Cys1267Gly) c.3649T>G (p.Cys1217Gly) | |
| 5 | g.128335500A>G | CA360757988 | FBN2 | n.586T>C n.667T>C c.3802T>C (p.Cys1268Arg) c.352T>C (p.Cys118Arg) c.3703T>C (p.Cys1235Arg) c.3799T>C (p.Cys1267Arg) c.3649T>C (p.Cys1217Arg) | |
| 5 | g.128335500A>T | CA360757990 | FBN2 | n.586T>A n.667T>A c.3802T>A (p.Cys1268Ser) c.352T>A (p.Cys118Ser) c.3703T>A (p.Cys1235Ser) c.3799T>A (p.Cys1267Ser) c.3649T>A (p.Cys1217Ser) | |
| 5 | g.128335501G>A | CA446310141 | FBN2 | n.585C>T n.666C>T c.3801C>T (p.Ser1267=) c.351C>T (p.Ser117=) c.3702C>T (p.Ser1234=) c.3798C>T (p.Ser1266=) c.3648C>T (p.Ser1216=) | |
| 5 | g.128335501G>C | CA360757991 | FBN2 | n.585C>G n.666C>G c.3801C>G (p.Ser1267Arg) c.351C>G (p.Ser117Arg) c.3702C>G (p.Ser1234Arg) c.3798C>G (p.Ser1266Arg) c.3648C>G (p.Ser1216Arg) | |
| 5 | g.128335501G>T | CA360757992 | FBN2 | n.585C>A n.666C>A c.3801C>A (p.Ser1267Arg) c.351C>A (p.Ser117Arg) c.3702C>A (p.Ser1234Arg) c.3798C>A (p.Ser1266Arg) c.3648C>A (p.Ser1216Arg) | |
| 5 | g.128335502C>A | CA360757993 | FBN2 | n.584G>T n.665G>T c.3800G>T (p.Ser1267Ile) c.350G>T (p.Ser117Ile) c.3701G>T (p.Ser1234Ile) c.3797G>T (p.Ser1266Ile) c.3647G>T (p.Ser1216Ile) | |
| 5 | g.128335502C>G | CA360757994 | FBN2 | n.584G>C n.665G>C c.3800G>C (p.Ser1267Thr) c.350G>C (p.Ser117Thr) c.3701G>C (p.Ser1234Thr) c.3797G>C (p.Ser1266Thr) c.3647G>C (p.Ser1216Thr) | gnomAD v4 |
| 5 | g.128335502C>T | CA360757995 | FBN2 | n.584G>A n.665G>A c.3800G>A (p.Ser1267Asn) c.350G>A (p.Ser117Asn) c.3701G>A (p.Ser1234Asn) c.3797G>A (p.Ser1266Asn) c.3647G>A (p.Ser1216Asn) | gnomAD v4 |
| 5 | g.128335503T>A | CA360757996 | FBN2 | n.583A>T n.664A>T c.3799A>T (p.Ser1267Cys) c.349A>T (p.Ser117Cys) c.3700A>T (p.Ser1234Cys) c.3796A>T (p.Ser1266Cys) c.3646A>T (p.Ser1216Cys) | |
| 5 | g.128335503T>C | CA127013836 | FBN2 | n.583A>G n.664A>G c.3799A>G (p.Ser1267Gly) c.349A>G (p.Ser117Gly) c.3700A>G (p.Ser1234Gly) c.3796A>G (p.Ser1266Gly) c.3646A>G (p.Ser1216Gly) | dbSNP |
| 5 | g.128335503T>G | CA360757997 | FBN2 | n.583A>C n.664A>C c.3799A>C (p.Ser1267Arg) c.349A>C (p.Ser117Arg) c.3700A>C (p.Ser1234Arg) c.3796A>C (p.Ser1266Arg) c.3646A>C (p.Ser1216Arg) | gnomAD v4 |
| 5 | g.128335503T= | CA1581269610 | FBN2 | n.583A= n.664A= c.3799A= (p.Ser1267=) c.349A= (p.Ser117=) c.3700A= (p.Ser1234=) c.3796A= (p.Ser1266=) c.3646A= (p.Ser1216=) | |
| 5 | g.128335504G>A | CA446310142 | FBN2 | n.582C>T n.663C>T c.3798C>T (p.Cys1266=) c.348C>T (p.Cys116=) c.3699C>T (p.Cys1233=) c.3795C>T (p.Cys1265=) c.3645C>T (p.Cys1215=) | gnomAD v4 |
| 5 | g.128335504G>C | CA360757998 | FBN2 | n.582C>G n.663C>G c.3798C>G (p.Cys1266Trp) c.348C>G (p.Cys116Trp) c.3699C>G (p.Cys1233Trp) c.3795C>G (p.Cys1265Trp) c.3645C>G (p.Cys1215Trp) | |
| 5 | g.128335504G>T | CA360757999 | FBN2 | n.582C>A n.663C>A c.3798C>A (p.Cys1266Ter) c.348C>A (p.Cys116Ter) c.3699C>A (p.Cys1233Ter) c.3795C>A (p.Cys1265Ter) c.3645C>A (p.Cys1215Ter) | |
| 5 | g.128335505C>A | CA360758000 | FBN2 | n.581G>T n.662G>T c.3797G>T (p.Cys1266Phe) c.347G>T (p.Cys116Phe) c.3698G>T (p.Cys1233Phe) c.3794G>T (p.Cys1265Phe) c.3644G>T (p.Cys1215Phe) | dbSNP |
| 5 | g.128335505C>G | CA360758001 | FBN2 | n.581G>C n.662G>C c.3797G>C (p.Cys1266Ser) c.347G>C (p.Cys116Ser) c.3698G>C (p.Cys1233Ser) c.3794G>C (p.Cys1265Ser) c.3644G>C (p.Cys1215Ser) | |
| 5 | g.128335505C>T | CA360758002 | FBN2 | n.581G>A n.662G>A c.3797G>A (p.Cys1266Tyr) c.347G>A (p.Cys116Tyr) c.3698G>A (p.Cys1233Tyr) c.3794G>A (p.Cys1265Tyr) c.3644G>A (p.Cys1215Tyr) | |
| 5 | g.128335506A>C | CA360758003 | FBN2 | n.580T>G n.661T>G c.3796T>G (p.Cys1266Gly) c.346T>G (p.Cys116Gly) c.3697T>G (p.Cys1233Gly) c.3793T>G (p.Cys1265Gly) c.3643T>G (p.Cys1215Gly) | |
| 5 | g.128335506A>G | CA360758005 | FBN2 | n.580T>C n.661T>C c.3796T>C (p.Cys1266Arg) c.346T>C (p.Cys116Arg) c.3697T>C (p.Cys1233Arg) c.3793T>C (p.Cys1265Arg) c.3643T>C (p.Cys1215Arg) | |
| 5 | g.128335506A>T | CA360758004 | FBN2 | n.580T>A n.661T>A c.3796T>A (p.Cys1266Ser) c.346T>A (p.Cys116Ser) c.3697T>A (p.Cys1233Ser) c.3793T>A (p.Cys1265Ser) c.3643T>A (p.Cys1215Ser) | |
| 5 | g.128335507T>A | CA360758006 | FBN2 | n.579A>T n.660A>T c.3795A>T (p.Glu1265Asp) c.345A>T (p.Glu115Asp) c.3696A>T (p.Glu1232Asp) c.3792A>T (p.Glu1264Asp) c.3642A>T (p.Glu1214Asp) | |
| 5 | g.128335507T>C | CA446310143 | FBN2 | n.579A>G n.660A>G c.3795A>G (p.Glu1265=) c.345A>G (p.Glu115=) c.3696A>G (p.Glu1232=) c.3792A>G (p.Glu1264=) c.3642A>G (p.Glu1214=) | gnomAD v4 |
| 5 | g.128335507T>G | CA360758007 | FBN2 | n.579A>C n.660A>C c.3795A>C (p.Glu1265Asp) c.345A>C (p.Glu115Asp) c.3696A>C (p.Glu1232Asp) c.3792A>C (p.Glu1264Asp) c.3642A>C (p.Glu1214Asp) | |
| 5 | g.128335508T>A | CA360758008 | FBN2 | n.578A>T n.659A>T c.3794A>T (p.Glu1265Val) c.344A>T (p.Glu115Val) c.3695A>T (p.Glu1232Val) c.3791A>T (p.Glu1264Val) c.3641A>T (p.Glu1214Val) | |
| 5 | g.128335508T>C | CA360758009 | FBN2 | n.578A>G n.659A>G c.3794A>G (p.Glu1265Gly) c.344A>G (p.Glu115Gly) c.3695A>G (p.Glu1232Gly) c.3791A>G (p.Glu1264Gly) c.3641A>G (p.Glu1214Gly) | |
| 5 | g.128335508T>G | CA360758010 | FBN2 | n.578A>C n.659A>C c.3794A>C (p.Glu1265Ala) c.344A>C (p.Glu115Ala) c.3695A>C (p.Glu1232Ala) c.3791A>C (p.Glu1264Ala) c.3641A>C (p.Glu1214Ala) | |
| 5 | g.128335509C>A | CA360758011 | FBN2 | n.577G>T n.658G>T c.3793G>T (p.Glu1265Ter) c.343G>T (p.Glu115Ter) c.3694G>T (p.Glu1232Ter) c.3790G>T (p.Glu1264Ter) c.3640G>T (p.Glu1214Ter) | |
| 5 | g.128335509C= | CA1581269611 | FBN2 | n.577G= n.658G= c.3793G= (p.Glu1265=) c.343G= (p.Glu115=) c.3694G= (p.Glu1232=) c.3790G= (p.Glu1264=) c.3640G= (p.Glu1214=) | |
| 5 | g.128335509C>G | CA360758012 | FBN2 | n.577G>C n.658G>C c.3793G>C (p.Glu1265Gln) c.343G>C (p.Glu115Gln) c.3694G>C (p.Glu1232Gln) c.3790G>C (p.Glu1264Gln) c.3640G>C (p.Glu1214Gln) | gnomAD v4 |
| 5 | g.128335509C>T | CA321025 | FBN2 | n.577G>A n.658G>A c.3793G>A (p.Glu1265Lys) c.343G>A (p.Glu115Lys) c.3694G>A (p.Glu1232Lys) c.3790G>A (p.Glu1264Lys) c.3640G>A (p.Glu1214Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335510G>A | CA446310144 | FBN2 | n.576C>T n.657C>T c.3792C>T (p.Tyr1264=) c.342C>T (p.Tyr114=) c.3693C>T (p.Tyr1231=) c.3789C>T (p.Tyr1263=) c.3639C>T (p.Tyr1213=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335510G>C | CA360758013 | FBN2 | n.576C>G n.657C>G c.3792C>G (p.Tyr1264Ter) c.342C>G (p.Tyr114Ter) c.3693C>G (p.Tyr1231Ter) c.3789C>G (p.Tyr1263Ter) c.3639C>G (p.Tyr1213Ter) | COSMIC COSMIC |
| 5 | g.128335510G= | CA1581269612 | FBN2 | n.576C= n.657C= c.3792C= (p.Tyr1264=) c.342C= (p.Tyr114=) c.3693C= (p.Tyr1231=) c.3789C= (p.Tyr1263=) c.3639C= (p.Tyr1213=) | |
| 5 | g.128335510G>T | CA360758014 | FBN2 | n.576C>A n.657C>A c.3792C>A (p.Tyr1264Ter) c.342C>A (p.Tyr114Ter) c.3693C>A (p.Tyr1231Ter) c.3789C>A (p.Tyr1263Ter) c.3639C>A (p.Tyr1213Ter) | |
| 5 | g.128335511T>A | CA360758017 | FBN2 | n.575A>T n.656A>T c.3791A>T (p.Tyr1264Phe) c.341A>T (p.Tyr114Phe) c.3692A>T (p.Tyr1231Phe) c.3788A>T (p.Tyr1263Phe) c.3638A>T (p.Tyr1213Phe) | |
| 5 | g.128335511T>C | CA360758016 | FBN2 | n.575A>G n.656A>G c.3791A>G (p.Tyr1264Cys) c.341A>G (p.Tyr114Cys) c.3692A>G (p.Tyr1231Cys) c.3788A>G (p.Tyr1263Cys) c.3638A>G (p.Tyr1213Cys) | |
| 5 | g.128335511T>G | CA360758015 | FBN2 | n.575A>C n.656A>C c.3791A>C (p.Tyr1264Ser) c.341A>C (p.Tyr114Ser) c.3692A>C (p.Tyr1231Ser) c.3788A>C (p.Tyr1263Ser) c.3638A>C (p.Tyr1213Ser) | |
| 5 | g.128335512A>C | CA360758018 | FBN2 | n.574T>G n.655T>G c.3790T>G (p.Tyr1264Asp) c.340T>G (p.Tyr114Asp) c.3691T>G (p.Tyr1231Asp) c.3787T>G (p.Tyr1263Asp) c.3637T>G (p.Tyr1213Asp) | |
| 5 | g.128335512A>G | CA360758019 | FBN2 | n.574T>C n.655T>C c.3790T>C (p.Tyr1264His) c.340T>C (p.Tyr114His) c.3691T>C (p.Tyr1231His) c.3787T>C (p.Tyr1263His) c.3637T>C (p.Tyr1213His) | gnomAD v4 |
| 5 | g.128335512A>T | CA360758020 | FBN2 | n.574T>A n.655T>A c.3790T>A (p.Tyr1264Asn) c.340T>A (p.Tyr114Asn) c.3691T>A (p.Tyr1231Asn) c.3787T>A (p.Tyr1263Asn) c.3637T>A (p.Tyr1213Asn) | ClinVar |
| 5 | g.128335513G>A | CA446310145 | FBN2 | n.573C>T n.654C>T c.3789C>T (p.Ser1263=) c.339C>T (p.Ser113=) c.3690C>T (p.Ser1230=) c.3786C>T (p.Ser1262=) c.3636C>T (p.Ser1212=) | |
| 5 | g.128335513G>C | CA360758021 | FBN2 | n.573C>G n.654C>G c.3789C>G (p.Ser1263Arg) c.339C>G (p.Ser113Arg) c.3690C>G (p.Ser1230Arg) c.3786C>G (p.Ser1262Arg) c.3636C>G (p.Ser1212Arg) | |
| 5 | g.128335513G>T | CA360758022 | FBN2 | n.573C>A n.654C>A c.3789C>A (p.Ser1263Arg) c.339C>A (p.Ser113Arg) c.3690C>A (p.Ser1230Arg) c.3786C>A (p.Ser1262Arg) c.3636C>A (p.Ser1212Arg) | |
| 5 | g.128335514C>A | CA360758025 | FBN2 | n.572G>T n.653G>T c.3788G>T (p.Ser1263Ile) c.338G>T (p.Ser113Ile) c.3689G>T (p.Ser1230Ile) c.3785G>T (p.Ser1262Ile) c.3635G>T (p.Ser1212Ile) | |
| 5 | g.128335514C= | CA1581269613 | FBN2 | n.572G= n.653G= c.3788G= (p.Ser1263=) c.338G= (p.Ser113=) c.3689G= (p.Ser1230=) c.3785G= (p.Ser1262=) c.3635G= (p.Ser1212=) | |
| 5 | g.128335514C>G | CA360758024 | FBN2 | n.572G>C n.653G>C c.3788G>C (p.Ser1263Thr) c.338G>C (p.Ser113Thr) c.3689G>C (p.Ser1230Thr) c.3785G>C (p.Ser1262Thr) c.3635G>C (p.Ser1212Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335514C>T | CA360758023 | FBN2 | n.572G>A n.653G>A c.3788G>A (p.Ser1263Asn) c.338G>A (p.Ser113Asn) c.3689G>A (p.Ser1230Asn) c.3785G>A (p.Ser1262Asn) c.3635G>A (p.Ser1212Asn) | gnomAD v4 |
| 5 | g.128335515T>A | CA360758026 | FBN2 | n.571A>T n.652A>T c.3787A>T (p.Ser1263Cys) c.337A>T (p.Ser113Cys) c.3688A>T (p.Ser1230Cys) c.3784A>T (p.Ser1262Cys) c.3634A>T (p.Ser1212Cys) | |
| 5 | g.128335515T>C | CA360758027 | FBN2 | n.571A>G n.652A>G c.3787A>G (p.Ser1263Gly) c.337A>G (p.Ser113Gly) c.3688A>G (p.Ser1230Gly) c.3784A>G (p.Ser1262Gly) c.3634A>G (p.Ser1212Gly) | |
| 5 | g.128335515T>G | CA360758028 | FBN2 | n.571A>C n.652A>C c.3787A>C (p.Ser1263Arg) c.337A>C (p.Ser113Arg) c.3688A>C (p.Ser1230Arg) c.3784A>C (p.Ser1262Arg) c.3634A>C (p.Ser1212Arg) | gnomAD v4 |
| 5 | g.128335516T>A | CA446310147 | FBN2 | n.570A>T n.651A>T c.3786A>T (p.Gly1262=) c.336A>T (p.Gly112=) c.3687A>T (p.Gly1229=) c.3783A>T (p.Gly1261=) c.3633A>T (p.Gly1211=) | |
| 5 | g.128335516T>C | CA446310148 | FBN2 | n.570A>G n.651A>G c.3786A>G (p.Gly1262=) c.336A>G (p.Gly112=) c.3687A>G (p.Gly1229=) c.3783A>G (p.Gly1261=) c.3633A>G (p.Gly1211=) | |
| 5 | g.128335516T>G | CA446310146 | FBN2 | n.570A>C n.651A>C c.3786A>C (p.Gly1262=) c.336A>C (p.Gly112=) c.3687A>C (p.Gly1229=) c.3783A>C (p.Gly1261=) c.3633A>C (p.Gly1211=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335516T= | CA1581269614 | FBN2 | n.570A= n.651A= c.3786A= (p.Gly1262=) c.336A= (p.Gly112=) c.3687A= (p.Gly1229=) c.3783A= (p.Gly1261=) c.3633A= (p.Gly1211=) | |
| 5 | g.128335517C>A | CA360758029 | FBN2 | n.569G>T n.650G>T c.3785G>T (p.Gly1262Val) c.335G>T (p.Gly112Val) c.3686G>T (p.Gly1229Val) c.3782G>T (p.Gly1261Val) c.3632G>T (p.Gly1211Val) | |
| 5 | g.128335517C>G | CA360758030 | FBN2 | n.569G>C n.650G>C c.3785G>C (p.Gly1262Ala) c.335G>C (p.Gly112Ala) c.3686G>C (p.Gly1229Ala) c.3782G>C (p.Gly1261Ala) c.3632G>C (p.Gly1211Ala) | |
| 5 | g.128335517C>T | CA360758031 | FBN2 | n.569G>A n.650G>A c.3785G>A (p.Gly1262Glu) c.335G>A (p.Gly112Glu) c.3686G>A (p.Gly1229Glu) c.3782G>A (p.Gly1261Glu) c.3632G>A (p.Gly1211Glu) | COSMIC COSMIC |
| 5 | g.128335518C>A | CA360758032 | FBN2 | n.568G>T n.649G>T c.3784G>T (p.Gly1262Ter) c.334G>T (p.Gly112Ter) c.3685G>T (p.Gly1229Ter) c.3781G>T (p.Gly1261Ter) c.3631G>T (p.Gly1211Ter) | |
| 5 | g.128335518C= | CA1581269615 | FBN2 | n.568G= n.649G= c.3784G= (p.Gly1262=) c.334G= (p.Gly112=) c.3685G= (p.Gly1229=) c.3781G= (p.Gly1261=) c.3631G= (p.Gly1211=) | |
| 5 | g.128335518C>G | CA360758033 | FBN2 | n.568G>C n.649G>C c.3784G>C (p.Gly1262Arg) c.334G>C (p.Gly112Arg) c.3685G>C (p.Gly1229Arg) c.3781G>C (p.Gly1261Arg) c.3631G>C (p.Gly1211Arg) | |
| 5 | g.128335518C>T | CA3395139 | FBN2 | n.568G>A n.649G>A c.3784G>A (p.Gly1262Arg) c.334G>A (p.Gly112Arg) c.3685G>A (p.Gly1229Arg) c.3781G>A (p.Gly1261Arg) c.3631G>A (p.Gly1211Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335519C>A | CA360758034 | FBN2 | n.567G>T n.648G>T c.3783G>T (p.Glu1261Asp) c.333G>T (p.Glu111Asp) c.3684G>T (p.Glu1228Asp) c.3780G>T (p.Glu1260Asp) c.3630G>T (p.Glu1210Asp) | |
| 5 | g.128335519C= | CA1581269616 | FBN2 | n.567G= n.648G= c.3783G= (p.Glu1261=) c.333G= (p.Glu111=) c.3684G= (p.Glu1228=) c.3780G= (p.Glu1260=) c.3630G= (p.Glu1210=) | |
| 5 | g.128335519C>G | CA360758035 | FBN2 | n.567G>C n.648G>C c.3783G>C (p.Glu1261Asp) c.333G>C (p.Glu111Asp) c.3684G>C (p.Glu1228Asp) c.3780G>C (p.Glu1260Asp) c.3630G>C (p.Glu1210Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335519C>T | CA446310150 | FBN2 | n.567G>A n.648G>A c.3783G>A (p.Glu1261=) c.333G>A (p.Glu111=) c.3684G>A (p.Glu1228=) c.3780G>A (p.Glu1260=) c.3630G>A (p.Glu1210=) |