| 15 | g.48610670A>G | CA2628338027 | FBN1 | c.346+58T>C (n.346+58T>C)
| gnomAD v4 |
| 15 | g.48610671G>A | CA270058887 | FBN1 | c.346+57C>T (n.346+57C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610671G= | CA2175573483 | FBN1 | c.346+57C= (n.346+57C=)
| |
| 15 | g.48610671G>T | CA2575717739 | FBN1 | c.346+57C>A (n.346+57C>A)
| gnomAD v4 |
| 15 | g.48610675del | CA2628338028 | FBN1 | c.346+56del (n.346+56del)
| gnomAD v4 |
| 15 | g.48610673A= | CA2175573484 | FBN1 | c.346+55T= (n.346+55T=)
| |
| 15 | g.48610673A>C | CA270058895 | FBN1 | c.346+55T>G (n.346+55T>G)
| dbSNP gnomAD v4 |
| 15 | g.48610674A= | CA2175573485 | FBN1 | c.346+54T= (n.346+54T=)
| |
| 15 | g.48610674A>C | CA713373714 | FBN1 | c.346+54T>G (n.346+54T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610675A>G | CA2628338029 | FBN1 | c.346+53T>C (n.346+53T>C)
| gnomAD v4 |
| 15 | g.48610676T>G | CA2628338030 | FBN1 | c.346+52A>C (n.346+52A>C)
| gnomAD v4 |
| 15 | g.48610677G>A | CA617942621 | FBN1 | c.346+51C>T (n.346+51C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610677G>C | CA656136118 | FBN1 | c.346+51C>G (n.346+51C>G)
| COSMIC |
| 15 | g.48610677G= | CA2175573486 | FBN1 | c.346+51C= (n.346+51C=)
| |
| 15 | g.48610677G>T | CA2628338031 | FBN1 | c.346+51C>A (n.346+51C>A)
| gnomAD v4 |
| 15 | g.48610678G>A | CA969556385 | FBN1 | c.346+50C>T (n.346+50C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610678G= | CA2175573487 | FBN1 | c.346+50C= (n.346+50C=)
| |
| 15 | g.48610678G>T | CA050848 | FBN1 | c.346+50C>A (n.346+50C>A)
| dbSNP ExAC |
| 15 | g.48610679G>T | CA2575717742 | FBN1 | c.346+49C>A (n.346+49C>A)
| gnomAD v4 |
| 15 | g.48610680G>A | CA270058909 | FBN1 | c.346+48C>T (n.346+48C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610680G= | CA2175573488 | FBN1 | c.346+48C= (n.346+48C=)
| |
| 15 | g.48610680G>T | CA2628338032 | FBN1 | c.346+48C>A (n.346+48C>A)
| gnomAD v4 |
| 15 | g.48610681T>C | CA2575717743 | FBN1 | c.346+47A>G (n.346+47A>G)
| gnomAD v4 |
| 15 | g.48610682_48610683delinsAT | CA2175573489 | FBN1 | c.346+45_346+46delinsAT (n.346+45_346+46delinsAT)
| |
| 15 | g.48610683del | CA617942625 | FBN1 | c.346+45del (n.346+45del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610683T>C | CA050836 | FBN1 | c.346+45A>G (n.346+45A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610683T= | CA2175573490 | FBN1 | c.346+45A= (n.346+45A=)
| |
| 15 | g.48610684A= | CA2175573491 | FBN1 | c.346+44T= (n.346+44T=)
| |
| 15 | g.48610684_48610685insGTTACTATGAATAGT | CA2175573492 | FBN1 | c.346+43_346+44insACTATTCATAGTAAC (n.346+43_346+44insACTATTCATAGTAAC)
| dbSNP |
| 15 | g.48610685A= | CA2175573493 | FBN1 | c.346+43T= (n.346+43T=)
| |
| 15 | g.48610685A>C | CA656136119 | FBN1 | c.346+43T>G (n.346+43T>G)
| COSMIC |
| 15 | g.48610685A>G | CA050810 | FBN1 | c.346+43T>C (n.346+43T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610686C>A | CA2628338034 | FBN1 | c.346+42G>T (n.346+42G>T)
| gnomAD v4 |
| 15 | g.48610686C>T | CA2628338033 | FBN1 | c.346+42G>A (n.346+42G>A)
| gnomAD v4 |
| 15 | g.48610687C>A | CA2575717745 | FBN1 | c.346+41G>T (n.346+41G>T)
| gnomAD v4 |
| 15 | g.48610687C= | CA2175573494 | FBN1 | c.346+41G= (n.346+41G=)
| |
| 15 | g.48610687C>G | CA617942626 | FBN1 | c.346+41G>C (n.346+41G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610687C>T | CA2628338035 | FBN1 | c.346+41G>A (n.346+41G>A)
| gnomAD v4 |
| 15 | g.48610689C>A | CA050743 | FBN1 | c.346+39G>T (n.346+39G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610689C= | CA2175573495 | FBN1 | c.346+39G= (n.346+39G=)
| |
| 15 | g.48610691T>A | CA2628338036 | FBN1 | c.346+37A>T (n.346+37A>T)
| gnomAD v4 |
| 15 | g.48610691T>C | CA050738 | FBN1 | c.346+37A>G (n.346+37A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610691T= | CA2175573496 | FBN1 | c.346+37A= (n.346+37A=)
| |
| 15 | g.48610693_48610696delinsAAAT | CA2175573497 | FBN1 | c.346+32_346+35delinsATTT (n.346+32_346+35delinsATTT)
| |
| 15 | g.48610698_48610700del | CA050699 | FBN1 | c.346+32_346+34del (n.346+32_346+34del)
| dbSNP ExAC gnomAD v2 |
| 15 | g.48610696T>C | CA2628338037 | FBN1 | c.346+32A>G (n.346+32A>G)
| gnomAD v4 |
| 15 | g.48610698A= | CA2175573498 | FBN1 | c.346+30T= (n.346+30T=)
| |
| 15 | g.48610698A>C | CA617942628 | FBN1 | c.346+30T>G (n.346+30T>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610698A>G | CA713373729 | FBN1 | c.346+30T>C (n.346+30T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610699T>C | CA2628338038 | FBN1 | c.346+29A>G (n.346+29A>G)
| gnomAD v4 |
| 15 | g.48610701T>C | CA2628338039 | FBN1 | c.346+27A>G (n.346+27A>G)
| gnomAD v4 |
| 15 | g.48610702T>C | CA050686 | FBN1 | c.346+26A>G (n.346+26A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610702T>G | CA050680 | FBN1 | c.346+26A>C (n.346+26A>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610702T= | CA2175573499 | FBN1 | c.346+26A= (n.346+26A=)
| |
| 15 | g.48610703del | CA2575717747 | FBN1 | c.346+25del (n.346+25del)
| |
| 15 | g.48610703A>G | CA2628338040 | FBN1 | c.346+25T>C (n.346+25T>C)
| gnomAD v4 |
| 15 | g.48610704T>C | CA713373735 | FBN1 | c.346+24A>G (n.346+24A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48610704T= | CA2175573500 | FBN1 | c.346+24A= (n.346+24A=)
| |
| 15 | g.48610704_48610705insTTT | CA2628338041 | FBN1 | c.346+24_346+25insAAA (n.346+24_346+25insAAA)
| gnomAD v4 |
| 15 | g.48610705A= | CA2175573501 | FBN1 | c.346+23T= (n.346+23T=)
| |
| 15 | g.48610705A>G | CA050679 | FBN1 | c.346+23T>C (n.346+23T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610705A>T | CA050676 | FBN1 | c.346+23T>A (n.346+23T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610706T>C | CA050667 | FBN1 | c.346+22A>G (n.346+22A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610706T= | CA2175573502 | FBN1 | c.346+22A= (n.346+22A=)
| |
| 15 | g.48610707A= | CA2175573503 | FBN1 | c.346+21T= (n.346+21T=)
| |
| 15 | g.48610707A>G | CA617942637 | FBN1 | c.346+21T>C (n.346+21T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610708T>C | CA270058975 | FBN1 | c.346+20A>G (n.346+20A>G)
| dbSNP gnomAD v4 |
| 15 | g.48610708T= | CA2175573504 | FBN1 | c.346+20A= (n.346+20A=)
| |
| 15 | g.48610711T>G | CA2628338042 | FBN1 | c.346+17A>C (n.346+17A>C)
| gnomAD v4 |
| 15 | g.48610712G>A | CA050661 | FBN1 | c.346+16C>T (n.346+16C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610712G= | CA2175573505 | FBN1 | c.346+16C= (n.346+16C=)
| |
| 15 | g.48610712G>T | CA2628338043 | FBN1 | c.346+16C>A (n.346+16C>A)
| gnomAD v4 |
| 15 | g.48610713A>T | CA2804074466 | FBN1 | c.346+15T>A (n.346+15T>A)
| |
| 15 | g.48610714C>T | CA969556417 | FBN1 | c.346+14G>A (n.346+14G>A)
| gnomAD v3 gnomAD v4 |
| 15 | g.48610715A= | CA2175573506 | FBN1 | c.346+13T= (n.346+13T=)
| |
| 15 | g.48610715A>T | CA050656 | FBN1 | c.346+13T>A (n.346+13T>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610716T>A | CA2628338044 | FBN1 | c.346+12A>T (n.346+12A>T)
| gnomAD v4 |
| 15 | g.48610716T>C | CA050654 | FBN1 | c.346+12A>G (n.346+12A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610716T>G | CA2175573508 | FBN1 | c.346+12A>C (n.346+12A>C)
| dbSNP |
| 15 | g.48610716T= | CA2175573507 | FBN1 | c.346+12A= (n.346+12A=)
| |
| 15 | g.48610717G>A | CA617942641 | FBN1 | c.346+11C>T (n.346+11C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610717G= | CA2175573509 | FBN1 | c.346+11C= (n.346+11C=)
| |
| 15 | g.48610717G>T | CA2628338045 | FBN1 | c.346+11C>A (n.346+11C>A)
| gnomAD v4 |
| 15 | g.48610718T>C | CA2628338047 | FBN1 | c.346+10A>G (n.346+10A>G)
| gnomAD v4 |
| 15 | g.48610719del | CA2628338046 | FBN1 | c.346+10del (n.346+10del)
| gnomAD v4 |
| 15 | g.48610719T>A | CA2628338048 | FBN1 | c.346+9A>T (n.346+9A>T)
| gnomAD v4 |
| 15 | g.48610720A>T | CA2628338050 | FBN1 | c.346+8T>A (n.346+8T>A)
| gnomAD v4 |
| 15 | g.48610720dup | CA2628338049 | FBN1 | c.346+8dup (n.346+8dup)
| gnomAD v4 |
| 15 | g.48610721G>C | CA2628338051 | FBN1 | c.346+7C>G (n.346+7C>G)
| gnomAD v4 |
| 15 | g.48610721G>T | CA2558381685 | FBN1 | c.346+7C>A (n.346+7C>A)
| gnomAD v4 |
| 15 | g.48610722A= | CA2175573510 | FBN1 | c.346+6T= (n.346+6T=)
| |
| 15 | g.48610722A>C | CA050861 | FBN1 | c.346+6T>G (n.346+6T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610723C= | CA2175573511 | FBN1 | c.346+5G= (n.346+5G=)
| |
| 15 | g.48610723C>T | CA617942644 | FBN1 | c.346+5G>A (n.346+5G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610725del | CA2575717751 | FBN1 | c.346+4del (n.346+4del)
| gnomAD v4 |
| 15 | g.48610725T>C | CA050750 | FBN1 | c.346+3A>G (n.346+3A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610725T= | CA2175573512 | FBN1 | c.346+3A= (n.346+3A=)
| |
| 15 | g.48610726A>C | CA392446780 | FBN1 | c.346+2T>G (n.346+2T>G)
| |
| 15 | g.48610726A>G | CA392446782 | FBN1 | c.346+2T>C (n.346+2T>C)
| |
| 15 | g.48610726A>T | CA392446784 | FBN1 | c.346+2T>A (n.346+2T>A)
| |
| 15 | g.48610727C>A | CA392446786 | FBN1 | c.346+1G>T (n.346+1G>T)
| |
| 15 | g.48610727C>G | CA392446787 | FBN1 | c.346+1G>C (n.346+1G>C)
| |
| 15 | g.48610727C>T | CA392446789 | FBN1 | c.346+1G>A (n.346+1G>A)
| |
| 15 | g.48610728T>A | CA392446791 | FBN1 | c.346A>T (p.Ile116Leu)
| |
| 15 | g.48610728T>C | CA050871 | FBN1 | c.346A>G (p.Ile116Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48610728T>G | CA392446793 | FBN1 | c.346A>C (p.Ile116Leu)
| |
| 15 | g.48610728T= | CA2175573513 | FBN1 | c.346A= (p.Ile116=)
| |
| 15 | g.48610729G>A | CA490090164 | FBN1 | c.345C>T (p.Ser115=)
| ClinVar gnomAD v4 |
| 15 | g.48610729G>C | CA490090165 | FBN1 | c.345C>G (p.Ser115=)
| |
| 15 | g.48610729G>T | CA490090166 | FBN1 | c.345C>A (p.Ser115=)
| |
| 15 | g.48610730del | CA2695220682 | FBN1 | c.345del (p.Ile116TyrfsTer9)
| ClinVar |
| 15 | g.48610730G>A | CA392446799 | FBN1 | c.344C>T (p.Ser115Phe)
| |
| 15 | g.48610730G>C | CA392446797 | FBN1 | c.344C>G (p.Ser115Cys)
| |
| 15 | g.48610730G>T | CA392446795 | FBN1 | c.344C>A (p.Ser115Tyr)
| |
| 15 | g.48610731A>C | CA392446801 | FBN1 | c.343T>G (p.Ser115Ala)
| |
| 15 | g.48610731A>G | CA392446803 | FBN1 | c.343T>C (p.Ser115Pro)
| |
| 15 | g.48610731A>T | CA392446805 | FBN1 | c.343T>A (p.Ser115Thr)
| |
| 15 | g.48610732T>A | CA392446807 | FBN1 | c.342A>T (p.Arg114Ser)
| |
| 15 | g.48610732T>C | CA490090168 | FBN1 | c.342A>G (p.Arg114=)
| |
| 15 | g.48610732T>G | CA392446809 | FBN1 | c.342A>C (p.Arg114Ser)
| |
| 15 | g.48610733C>A | CA392446811 | FBN1 | c.341G>T (p.Arg114Ile)
| gnomAD v4 |
| 15 | g.48610733C= | CA2175573514 | FBN1 | c.341G= (p.Arg114=)
| |
| 15 | g.48610733C>G | CA270059024 | FBN1 | c.341G>C (p.Arg114Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610733C>T | CA392446814 | FBN1 | c.341G>A (p.Arg114Lys)
| |
| 15 | g.48610734T>A | CA392446816 | FBN1 | c.340A>T (p.Arg114Ter)
| |
| 15 | g.48610734T>C | CA392446817 | FBN1 | c.340A>G (p.Arg114Gly)
| |
| 15 | g.48610734T>G | CA490090169 | FBN1 | c.340A>C (p.Arg114=)
| |
| 15 | g.48610735G>A | CA490090170 | FBN1 | c.339C>T (p.Ser113=)
| ClinVar |
| 15 | g.48610735G>C | CA490090171 | FBN1 | c.339C>G (p.Ser113=)
| |
| 15 | g.48610735G>T | CA490090172 | FBN1 | c.339C>A (p.Ser113=)
| |
| 15 | g.48610736G>A | CA392446820 | FBN1 | c.338C>T (p.Ser113Phe)
| dbSNP gnomAD v4 |
| 15 | g.48610736G>C | CA353680 | FBN1 | c.338C>G (p.Ser113Cys)
| ClinVar dbSNP |
| 15 | g.48610736G= | CA2175573515 | FBN1 | c.338C= (p.Ser113=)
| |
| 15 | g.48610736G>T | CA392446821 | FBN1 | c.338C>A (p.Ser113Tyr)
| dbSNP |
| 15 | g.48610737A= | CA2175573516 | FBN1 | c.337T= (p.Ser113=)
| |
| 15 | g.48610737A>C | CA392446825 | FBN1 | c.337T>G (p.Ser113Ala)
| |
| 15 | g.48610737A>G | CA392446827 | FBN1 | c.337T>C (p.Ser113Pro)
| |
| 15 | g.48610737A>T | CA392446824 | FBN1 | c.337T>A (p.Ser113Thr)
| |
| 15 | g.48610738G>A | CA490090173 | FBN1 | c.336C>T (p.Gly112=)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610738G>C | CA490090174 | FBN1 | c.336C>G (p.Gly112=)
| |
| 15 | g.48610738G= | CA2175573517 | FBN1 | c.336C= (p.Gly112=)
| |
| 15 | g.48610738G>T | CA490090175 | FBN1 | c.336C>A (p.Gly112=)
| |
| 15 | g.48610738dup | CA658656485 | FBN1 | c.336dup (p.Ser113LeufsTer16)
| ClinVar dbSNP |
| 15 | g.48610739C>A | CA392446831 | FBN1 | c.335G>T (p.Gly112Val)
| |
| 15 | g.48610739C>G | CA392446829 | FBN1 | c.335G>C (p.Gly112Ala)
| COSMIC |
| 15 | g.48610739C>T | CA392446832 | FBN1 | c.335G>A (p.Gly112Asp)
| |
| 15 | g.48610740C>A | CA392446834 | FBN1 | c.334G>T (p.Gly112Cys)
| |
| 15 | g.48610740C= | CA2175573518 | FBN1 | c.334G= (p.Gly112=)
| |
| 15 | g.48610740C>G | CA392446836 | FBN1 | c.334G>C (p.Gly112Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48610740C>T | CA392446837 | FBN1 | c.334G>A (p.Gly112Ser)
| |
| 15 | g.48610741A>C | CA392446839 | FBN1 | c.333T>G (p.Cys111Trp)
| |
| 15 | g.48610741A>G | CA490090176 | FBN1 | c.333T>C (p.Cys111=)
| |
| 15 | g.48610741A>T | CA392446841 | FBN1 | c.333T>A (p.Cys111Ter)
| |
| 15 | g.48610742C>A | CA392446843 | FBN1 | c.332G>T (p.Cys111Phe)
| |
| 15 | g.48610742C>G | CA392446845 | FBN1 | c.332G>C (p.Cys111Ser)
| COSMIC |
| 15 | g.48610742C>T | CA392446847 | FBN1 | c.332G>A (p.Cys111Tyr)
| |
| 15 | g.48610743A>C | CA392446849 | FBN1 | c.331T>G (p.Cys111Gly)
| |
| 15 | g.48610743A>G | CA392446851 | FBN1 | c.331T>C (p.Cys111Arg)
| ClinVar COSMIC |
| 15 | g.48610743A>T | CA392446852 | FBN1 | c.331T>A (p.Cys111Ser)
| |
| 15 | g.48610744G>A | CA490090178 | FBN1 | c.330C>T (p.Ser110=)
| gnomAD v4 |
| 15 | g.48610744G>C | CA490090179 | FBN1 | c.330C>G (p.Ser110=)
| |
| 15 | g.48610744G>T | CA490090180 | FBN1 | c.330C>A (p.Ser110=)
| |
| 15 | g.48610745G>A | CA392446858 | FBN1 | c.329C>T (p.Ser110Phe)
| |
| 15 | g.48610745G>C | CA392446856 | FBN1 | c.329C>G (p.Ser110Cys)
| ClinVar |
| 15 | g.48610745G>T | CA392446854 | FBN1 | c.329C>A (p.Ser110Tyr)
| |
| 15 | g.48610746A>C | CA392446860 | FBN1 | c.328T>G (p.Ser110Ala)
| |
| 15 | g.48610746A>G | CA392446861 | FBN1 | c.328T>C (p.Ser110Pro)
| |
| 15 | g.48610746A>T | CA392446863 | FBN1 | c.328T>A (p.Ser110Thr)
| |
| 15 | g.48610747A>C | CA490090182 | FBN1 | c.327T>G (p.Pro109=)
| |
| 15 | g.48610747A>G | CA490090183 | FBN1 | c.327T>C (p.Pro109=)
| |
| 15 | g.48610747A>T | CA490090184 | FBN1 | c.327T>A (p.Pro109=)
| |
| 15 | g.48610748G>A | CA392446865 | FBN1 | c.326C>T (p.Pro109Leu)
| |
| 15 | g.48610748G>C | CA392446867 | FBN1 | c.326C>G (p.Pro109Arg)
| |
| 15 | g.48610748G>T | CA392446869 | FBN1 | c.326C>A (p.Pro109His)
| |
| 15 | g.48610749G>A | CA392446876 | FBN1 | c.325C>T (p.Pro109Ser)
| dbSNP |
| 15 | g.48610749G>C | CA392446878 | FBN1 | c.325C>G (p.Pro109Ala)
| |
| 15 | g.48610749G= | CA2175573519 | FBN1 | c.325C= (p.Pro109=)
| |
| 15 | g.48610749G>T | CA392446880 | FBN1 | c.325C>A (p.Pro109Thr)
| |
| 15 | g.48610750A>C | CA490090185 | FBN1 | c.324T>G (p.Ala108=)
| |
| 15 | g.48610750A>G | CA490090186 | FBN1 | c.324T>C (p.Ala108=)
| |
| 15 | g.48610750A>T | CA490090187 | FBN1 | c.324T>A (p.Ala108=)
| |
| 15 | g.48610751G>A | CA392446882 | FBN1 | c.323C>T (p.Ala108Val)
| |
| 15 | g.48610751G>C | CA392446883 | FBN1 | c.323C>G (p.Ala108Gly)
| |
| 15 | g.48610751G>T | CA392446885 | FBN1 | c.323C>A (p.Ala108Asp)
| |
| 15 | g.48610752C>A | CA392446890 | FBN1 | c.322G>T (p.Ala108Ser)
| |
| 15 | g.48610752C>G | CA392446889 | FBN1 | c.322G>C (p.Ala108Pro)
| |
| 15 | g.48610752C>T | CA392446887 | FBN1 | c.322G>A (p.Ala108Thr)
| |
| 15 | g.48610752_48610754delinsCTA | CA2175573520 | FBN1 | c.320_322delinsTAG (p.Ile107=)
| |
| 15 | g.48610753T>A | CA490090188 | FBN1 | c.321A>T (p.Ile107=)
| |
| 15 | g.48610753T>C | CA392446893 | FBN1 | c.321A>G (p.Ile107Met)
| |
| 15 | g.48610753T>G | CA490090189 | FBN1 | c.321A>C (p.Ile107=)
| |
| 15 | g.48610754_48610755del | CA013877 | FBN1 | c.320_321del (p.Ile107SerfsTer21)
| ClinVar dbSNP |
| 15 | g.48610754A>C | CA392446897 | FBN1 | c.320T>G (p.Ile107Arg)
| |
| 15 | g.48610754A>G | CA392446898 | FBN1 | c.320T>C (p.Ile107Thr)
| |
| 15 | g.48610754A>T | CA392446900 | FBN1 | c.320T>A (p.Ile107Lys)
| |
| 15 | g.48610755del | CA2580089555 | FBN1 | c.319del (p.Ile107Ter)
| ClinVar |
| 15 | g.48610755T>A | CA392446902 | FBN1 | c.319A>T (p.Ile107Leu)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.48610755T>C | CA392446904 | FBN1 | c.319A>G (p.Ile107Val)
| ClinVar |
| 15 | g.48610755T>G | CA392446906 | FBN1 | c.319A>C (p.Ile107Leu)
| |
| 15 | g.48610755T= | CA2175573521 | FBN1 | c.319A= (p.Ile107=)
| |
| 15 | g.48610756C>A | CA392446908 | FBN1 | c.318G>T (p.Gln106His)
| |
| 15 | g.48610756C>G | CA392446910 | FBN1 | c.318G>C (p.Gln106His)
| |
| 15 | g.48610756C>T | CA490090192 | FBN1 | c.318G>A (p.Gln106=)
| |
| 15 | g.48610757_48610760dup | CA915946001 | FBN1 | c.315_318dup (p.Ile107SerfsTer23)
| ClinVar dbSNP |
| 15 | g.48610757T>A | CA392446912 | FBN1 | c.317A>T (p.Gln106Leu)
| |
| 15 | g.48610757T>C | CA392446913 | FBN1 | c.317A>G (p.Gln106Arg)
| |
| 15 | g.48610757T>G | CA392446915 | FBN1 | c.317A>C (p.Gln106Pro)
| |
| 15 | g.48610758G>A | CA392446921 | FBN1 | c.316C>T (p.Gln106Ter)
| |
| 15 | g.48610758G>C | CA392446917 | FBN1 | c.316C>G (p.Gln106Glu)
| |
| 15 | g.48610758G>T | CA392446919 | FBN1 | c.316C>A (p.Gln106Lys)
| gnomAD v4 |
| 15 | g.48610759A>C | CA490090193 | FBN1 | c.315T>G (p.Gly105=)
| |
| 15 | g.48610759A>G | CA490090194 | FBN1 | c.315T>C (p.Gly105=)
| |
| 15 | g.48610759A>T | CA490090196 | FBN1 | c.315T>A (p.Gly105=)
| |
| 15 | g.48610760C>A | CA392446922 | FBN1 | c.314G>T (p.Gly105Val)
| |
| 15 | g.48610760C>G | CA392446923 | FBN1 | c.314G>C (p.Gly105Ala)
| |
| 15 | g.48610760C>T | CA392446924 | FBN1 | c.314G>A (p.Gly105Asp)
| |
| 15 | g.48610761C>A | CA392446926 | FBN1 | c.313G>T (p.Gly105Cys)
| |
| 15 | g.48610761C>G | CA392446928 | FBN1 | c.313G>C (p.Gly105Arg)
| |
| 15 | g.48610761C>T | CA392446930 | FBN1 | c.313G>A (p.Gly105Ser)
| |
| 15 | g.48610762A>C | CA490090199 | FBN1 | c.312T>G (p.Ser104=)
| |
| 15 | g.48610762A>G | CA490090200 | FBN1 | c.312T>C (p.Ser104=)
| |
| 15 | g.48610762A>T | CA490090201 | FBN1 | c.312T>A (p.Ser104=)
| |
| 15 | g.48610763_48610764del | CA2739290641 | FBN1 | c.311_312del (p.Ser104TrpfsTer24)
| |
| 15 | g.48610762_48610765dup | CA2695220684 | FBN1 | c.309_312dup (p.Gly105IlefsTer25)
| |
| 15 | g.48610763G>A | CA392446931 | FBN1 | c.311C>T (p.Ser104Phe)
| COSMIC |
| 15 | g.48610763G>C | CA392446933 | FBN1 | c.311C>G (p.Ser104Cys)
| |
| 15 | g.48610763G>T | CA392446935 | FBN1 | c.311C>A (p.Ser104Tyr)
| |
| 15 | g.48610764A>C | CA392446937 | FBN1 | c.310T>G (p.Ser104Ala)
| |
| 15 | g.48610764A>G | CA392446939 | FBN1 | c.310T>C (p.Ser104Pro)
| |
| 15 | g.48610764A>T | CA392446941 | FBN1 | c.310T>A (p.Ser104Thr)
| |
| 15 | g.48610765del | CA2573150806 | FBN1 | c.309del (p.Ser104LeufsTer4)
| ClinVar dbSNP |
| 15 | g.48610765T>A | CA490090205 | FBN1 | c.309A>T (p.Pro103=)
| |
| 15 | g.48610765T>C | CA490090206 | FBN1 | c.309A>G (p.Pro103=)
| gnomAD v4 |
| 15 | g.48610765T>G | CA490090207 | FBN1 | c.309A>C (p.Pro103=)
| |
| 15 | g.48610766G>A | CA392446945 | FBN1 | c.308C>T (p.Pro103Leu)
| |
| 15 | g.48610766G>C | CA392446947 | FBN1 | c.308C>G (p.Pro103Arg)
| |
| 15 | g.48610766G>T | CA392446943 | FBN1 | c.308C>A (p.Pro103Gln)
| |
| 15 | g.48610768dup | CA2695220685 | FBN1 | c.308dup (p.Ser104IlefsTer25)
| |
| 15 | g.48610767G>A | CA392446948 | FBN1 | c.307C>T (p.Pro103Ser)
| |
| 15 | g.48610767G>C | CA392446950 | FBN1 | c.307C>G (p.Pro103Ala)
| |
| 15 | g.48610767G>T | CA392446953 | FBN1 | c.307C>A (p.Pro103Thr)
| |
| 15 | g.48610768G>A | CA013747 | FBN1 | c.306C>T (p.Cys102=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48610768G>C | CA392446956 | FBN1 | c.306C>G (p.Cys102Trp)
| ClinVar |
| 15 | g.48610768G= | CA2175573522 | FBN1 | c.306C= (p.Cys102=)
| |
| 15 | g.48610768G>T | CA16607112 | FBN1 | c.306C>A (p.Cys102Ter)
| ClinVar dbSNP |
| 15 | g.48610768_48610769delinsGC | CA2175573523 | FBN1 | c.305_306delinsGC (p.Cys102=)
| |
| 15 | g.48610768_48610769delinsTT | CA658825075 | FBN1 | c.305_306delinsAA (p.Cys102Ter)
| ClinVar dbSNP |
| 15 | g.48610769C>A | CA013737 | FBN1 | c.305G>T (p.Cys102Phe)
| ClinVar dbSNP |
| 15 | g.48610769C= | CA2175573524 | FBN1 | c.305G= (p.Cys102=)
| |
| 15 | g.48610769C>G | CA392446959 | FBN1 | c.305G>C (p.Cys102Ser)
| ClinVar dbSNP |
| 15 | g.48610769C>T | CA392446961 | FBN1 | c.305G>A (p.Cys102Tyr)
| ClinVar dbSNP |
| 15 | g.48610770A= | CA2175573525 | FBN1 | c.304T= (p.Cys102=)
| |
| 15 | g.48610770A>C | CA392446964 | FBN1 | c.304T>G (p.Cys102Gly)
| |
| 15 | g.48610770A>G | CA392446965 | FBN1 | c.304T>C (p.Cys102Arg)
| ClinVar dbSNP |
| 15 | g.48610770A>T | CA392446967 | FBN1 | c.304T>A (p.Cys102Ser)
| |
