Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.128361671A>G | CA2675118875 | FBN2 | c.2554+52T>C (n.2554+52T>C) c.2455+52T>C (n.2455+52T>C) c.2551+52T>C (n.2551+52T>C) c.2401+52T>C (n.2401+52T>C) | gnomAD v4 |
5 | g.128361673A>C | CA2709963893 | FBN2 | c.2554+50T>G (n.2554+50T>G) c.2455+50T>G (n.2455+50T>G) c.2551+50T>G (n.2551+50T>G) c.2401+50T>G (n.2401+50T>G) | dbSNP |
5 | g.128361675C>G | CA2604174597 | FBN2 | c.2554+48G>C (n.2554+48G>C) c.2455+48G>C (n.2455+48G>C) c.2551+48G>C (n.2551+48G>C) c.2401+48G>C (n.2401+48G>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361675C>T | CA2709963917 | FBN2 | c.2554+48G>A (n.2554+48G>A) c.2455+48G>A (n.2455+48G>A) c.2551+48G>A (n.2551+48G>A) c.2401+48G>A (n.2401+48G>A) | dbSNP |
5 | g.128361676T>C | CA562717792 | FBN2 | c.2554+47A>G (n.2554+47A>G) c.2455+47A>G (n.2455+47A>G) c.2551+47A>G (n.2551+47A>G) c.2401+47A>G (n.2401+47A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361676T>G | CA3395510 | FBN2 | c.2554+47A>C (n.2554+47A>C) c.2455+47A>C (n.2455+47A>C) c.2551+47A>C (n.2551+47A>C) c.2401+47A>C (n.2401+47A>C) | dbSNP ExAC gnomAD v2 |
5 | g.128361676T= | CA1581284148 | FBN2 | c.2554+47A= (n.2554+47A=) c.2455+47A= (n.2455+47A=) c.2551+47A= (n.2551+47A=) c.2401+47A= (n.2401+47A=) | |
5 | g.128361677C>T | CA2675118876 | FBN2 | c.2554+46G>A (n.2554+46G>A) c.2455+46G>A (n.2455+46G>A) c.2551+46G>A (n.2551+46G>A) c.2401+46G>A (n.2401+46G>A) | gnomAD v4 |
5 | g.128361679A= | CA1581284149 | FBN2 | c.2554+44T= (n.2554+44T=) c.2455+44T= (n.2455+44T=) c.2551+44T= (n.2551+44T=) c.2401+44T= (n.2401+44T=) | |
5 | g.128361679A>G | CA3395511 | FBN2 | c.2554+44T>C (n.2554+44T>C) c.2455+44T>C (n.2455+44T>C) c.2551+44T>C (n.2551+44T>C) c.2401+44T>C (n.2401+44T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361680G>A | CA2578396503 | FBN2 | c.2554+43C>T (n.2554+43C>T) c.2455+43C>T (n.2455+43C>T) c.2551+43C>T (n.2551+43C>T) c.2401+43C>T (n.2401+43C>T) | |
5 | g.128361681G>A | CA1581284151 | FBN2 | c.2554+42C>T (n.2554+42C>T) c.2455+42C>T (n.2455+42C>T) c.2551+42C>T (n.2551+42C>T) c.2401+42C>T (n.2401+42C>T) | dbSNP gnomAD v4 |
5 | g.128361681G= | CA1581284150 | FBN2 | c.2554+42C= (n.2554+42C=) c.2455+42C= (n.2455+42C=) c.2551+42C= (n.2551+42C=) c.2401+42C= (n.2401+42C=) | |
5 | g.128361683A= | CA1581284152 | FBN2 | c.2554+40T= (n.2554+40T=) c.2455+40T= (n.2455+40T=) c.2551+40T= (n.2551+40T=) c.2401+40T= (n.2401+40T=) | |
5 | g.128361683A>G | CA3395512 | FBN2 | c.2554+40T>C (n.2554+40T>C) c.2455+40T>C (n.2455+40T>C) c.2551+40T>C (n.2551+40T>C) c.2401+40T>C (n.2401+40T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361684C= | CA1581284153 | FBN2 | c.2554+39G= (n.2554+39G=) c.2455+39G= (n.2455+39G=) c.2551+39G= (n.2551+39G=) c.2401+39G= (n.2401+39G=) | |
5 | g.128361684C>G | CA562717793 | FBN2 | c.2554+39G>C (n.2554+39G>C) c.2455+39G>C (n.2455+39G>C) c.2551+39G>C (n.2551+39G>C) c.2401+39G>C (n.2401+39G>C) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361687A>G | CA2768336348 | FBN2 | c.2554+36T>C (n.2554+36T>C) c.2455+36T>C (n.2455+36T>C) c.2551+36T>C (n.2551+36T>C) c.2401+36T>C (n.2401+36T>C) | |
5 | g.128361688C>A | CA2675118877 | FBN2 | c.2554+35G>T (n.2554+35G>T) c.2455+35G>T (n.2455+35G>T) c.2551+35G>T (n.2551+35G>T) c.2401+35G>T (n.2401+35G>T) | gnomAD v4 |
5 | g.128361691T>C | CA562717794 | FBN2 | c.2554+32A>G (n.2554+32A>G) c.2455+32A>G (n.2455+32A>G) c.2551+32A>G (n.2551+32A>G) c.2401+32A>G (n.2401+32A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361691T= | CA1581284154 | FBN2 | c.2554+32A= (n.2554+32A=) c.2455+32A= (n.2455+32A=) c.2551+32A= (n.2551+32A=) c.2401+32A= (n.2401+32A=) | |
5 | g.128361692_128361724dup | CA1081368193 | FBN2 | c.2554_2554+32dup c.2455_2455+32dup c.2551_2551+32dup c.2401_2401+32dup | gnomAD v3 gnomAD v4 |
5 | g.128361692G>C | CA127029875 | FBN2 | c.2554+31C>G (n.2554+31C>G) c.2455+31C>G (n.2455+31C>G) c.2551+31C>G (n.2551+31C>G) c.2401+31C>G (n.2401+31C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361692G= | CA1581284155 | FBN2 | c.2554+31C= (n.2554+31C=) c.2455+31C= (n.2455+31C=) c.2551+31C= (n.2551+31C=) c.2401+31C= (n.2401+31C=) | |
5 | g.128361692G>T | CA2709732626 | FBN2 | c.2554+31C>A (n.2554+31C>A) c.2455+31C>A (n.2455+31C>A) c.2551+31C>A (n.2551+31C>A) c.2401+31C>A (n.2401+31C>A) | dbSNP |
5 | g.128361693C>A | CA2675118878 | FBN2 | c.2554+30G>T (n.2554+30G>T) c.2455+30G>T (n.2455+30G>T) c.2551+30G>T (n.2551+30G>T) c.2401+30G>T (n.2401+30G>T) | gnomAD v4 |
5 | g.128361693C= | CA1581284156 | FBN2 | c.2554+30G= (n.2554+30G=) c.2455+30G= (n.2455+30G=) c.2551+30G= (n.2551+30G=) c.2401+30G= (n.2401+30G=) | |
5 | g.128361693C>T | CA127029886 | FBN2 | c.2554+30G>A (n.2554+30G>A) c.2455+30G>A (n.2455+30G>A) c.2551+30G>A (n.2551+30G>A) c.2401+30G>A (n.2401+30G>A) | dbSNP |
5 | g.128361694A= | CA1581284157 | FBN2 | c.2554+29T= (n.2554+29T=) c.2455+29T= (n.2455+29T=) c.2551+29T= (n.2551+29T=) c.2401+29T= (n.2401+29T=) | |
5 | g.128361694A>G | CA562717795 | FBN2 | c.2554+29T>C (n.2554+29T>C) c.2455+29T>C (n.2455+29T>C) c.2551+29T>C (n.2551+29T>C) c.2401+29T>C (n.2401+29T>C) | dbSNP gnomAD v2 |
5 | g.128361695C>A | CA1581284159 | FBN2 | c.2554+28G>T (n.2554+28G>T) c.2455+28G>T (n.2455+28G>T) c.2551+28G>T (n.2551+28G>T) c.2401+28G>T (n.2401+28G>T) | dbSNP gnomAD v4 |
5 | g.128361695C= | CA1581284158 | FBN2 | c.2554+28G= (n.2554+28G=) c.2455+28G= (n.2455+28G=) c.2551+28G= (n.2551+28G=) c.2401+28G= (n.2401+28G=) | |
5 | g.128361698A= | CA1581284160 | FBN2 | c.2554+25T= (n.2554+25T=) c.2455+25T= (n.2455+25T=) c.2551+25T= (n.2551+25T=) c.2401+25T= (n.2401+25T=) | |
5 | g.128361698A>G | CA3395513 | FBN2 | c.2554+25T>C (n.2554+25T>C) c.2455+25T>C (n.2455+25T>C) c.2551+25T>C (n.2551+25T>C) c.2401+25T>C (n.2401+25T>C) | dbSNP ExAC gnomAD v2 |
5 | g.128361699T>C | CA2675118879 | FBN2 | c.2554+24A>G (n.2554+24A>G) c.2455+24A>G (n.2455+24A>G) c.2551+24A>G (n.2551+24A>G) c.2401+24A>G (n.2401+24A>G) | gnomAD v4 |
5 | g.128361702G>A | CA562717796 | FBN2 | c.2554+21C>T (n.2554+21C>T) c.2455+21C>T (n.2455+21C>T) c.2551+21C>T (n.2551+21C>T) c.2401+21C>T (n.2401+21C>T) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361702G= | CA1581284161 | FBN2 | c.2554+21C= (n.2554+21C=) c.2455+21C= (n.2455+21C=) c.2551+21C= (n.2551+21C=) c.2401+21C= (n.2401+21C=) | |
5 | g.128361703G>A | CA3395514 | FBN2 | c.2554+20C>T (n.2554+20C>T) c.2455+20C>T (n.2455+20C>T) c.2551+20C>T (n.2551+20C>T) c.2401+20C>T (n.2401+20C>T) | dbSNP ExAC |
5 | g.128361703G= | CA1581284162 | FBN2 | c.2554+20C= (n.2554+20C=) c.2455+20C= (n.2455+20C=) c.2551+20C= (n.2551+20C=) c.2401+20C= (n.2401+20C=) | |
5 | g.128361704C= | CA1581284163 | FBN2 | c.2554+19G= (n.2554+19G=) c.2455+19G= (n.2455+19G=) c.2551+19G= (n.2551+19G=) c.2401+19G= (n.2401+19G=) | |
5 | g.128361704C>T | CA3395515 | FBN2 | c.2554+19G>A (n.2554+19G>A) c.2455+19G>A (n.2455+19G>A) c.2551+19G>A (n.2551+19G>A) c.2401+19G>A (n.2401+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361705G>A | CA3395516 | FBN2 | c.2554+18C>T (n.2554+18C>T) c.2455+18C>T (n.2455+18C>T) c.2551+18C>T (n.2551+18C>T) c.2401+18C>T (n.2401+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361705G= | CA1581284164 | FBN2 | c.2554+18C= (n.2554+18C=) c.2455+18C= (n.2455+18C=) c.2551+18C= (n.2551+18C=) c.2401+18C= (n.2401+18C=) | |
5 | g.128361705G>T | CA2578396504 | FBN2 | c.2554+18C>A (n.2554+18C>A) c.2455+18C>A (n.2455+18C>A) c.2551+18C>A (n.2551+18C>A) c.2401+18C>A (n.2401+18C>A) | |
5 | g.128361706A= | CA1581284165 | FBN2 | c.2554+17T= (n.2554+17T=) c.2455+17T= (n.2455+17T=) c.2551+17T= (n.2551+17T=) c.2401+17T= (n.2401+17T=) | |
5 | g.128361706A>G | CA3395517 | FBN2 | c.2554+17T>C (n.2554+17T>C) c.2455+17T>C (n.2455+17T>C) c.2551+17T>C (n.2551+17T>C) c.2401+17T>C (n.2401+17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361706A>T | CA2675118880 | FBN2 | c.2554+17T>A (n.2554+17T>A) c.2455+17T>A (n.2455+17T>A) c.2551+17T>A (n.2551+17T>A) c.2401+17T>A (n.2401+17T>A) | gnomAD v4 |
5 | g.128361707T>A | CA3395518 | FBN2 | c.2554+16A>T (n.2554+16A>T) c.2455+16A>T (n.2455+16A>T) c.2551+16A>T (n.2551+16A>T) c.2401+16A>T (n.2401+16A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361707T>C | CA2675118881 | FBN2 | c.2554+16A>G (n.2554+16A>G) c.2455+16A>G (n.2455+16A>G) c.2551+16A>G (n.2551+16A>G) c.2401+16A>G (n.2401+16A>G) | gnomAD v4 |
5 | g.128361707T= | CA1581284166 | FBN2 | c.2554+16A= (n.2554+16A=) c.2455+16A= (n.2455+16A=) c.2551+16A= (n.2551+16A=) c.2401+16A= (n.2401+16A=) | |
5 | g.128361708G>A | CA2675118882 | FBN2 | c.2554+15C>T (n.2554+15C>T) c.2455+15C>T (n.2455+15C>T) c.2551+15C>T (n.2551+15C>T) c.2401+15C>T (n.2401+15C>T) | gnomAD v4 |
5 | g.128361710A>G | CA2675118883 | FBN2 | c.2554+13T>C (n.2554+13T>C) c.2455+13T>C (n.2455+13T>C) c.2551+13T>C (n.2551+13T>C) c.2401+13T>C (n.2401+13T>C) | gnomAD v4 |
5 | g.128361712A>G | CA2675118884 | FBN2 | c.2554+11T>C (n.2554+11T>C) c.2455+11T>C (n.2455+11T>C) c.2551+11T>C (n.2551+11T>C) c.2401+11T>C (n.2401+11T>C) | gnomAD v4 |
5 | g.128361713C= | CA1581284167 | FBN2 | c.2554+10G= (n.2554+10G=) c.2455+10G= (n.2455+10G=) c.2551+10G= (n.2551+10G=) c.2401+10G= (n.2401+10G=) | |
5 | g.128361713C>G | CA2675118886 | FBN2 | c.2554+10G>C (n.2554+10G>C) c.2455+10G>C (n.2455+10G>C) c.2551+10G>C (n.2551+10G>C) c.2401+10G>C (n.2401+10G>C) | gnomAD v4 |
5 | g.128361713C>T | CA1081368200 | FBN2 | c.2554+10G>A (n.2554+10G>A) c.2455+10G>A (n.2455+10G>A) c.2551+10G>A (n.2551+10G>A) c.2401+10G>A (n.2401+10G>A) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361714_128361718dup | CA2675118885 | FBN2 | c.2554+6_2554+10dup (n.2554+6_2554+10dup) c.2455+6_2455+10dup (n.2455+6_2455+10dup) c.2551+6_2551+10dup (n.2551+6_2551+10dup) c.2401+6_2401+10dup (n.2401+6_2401+10dup) | gnomAD v4 |
5 | g.128361714A>C | CA2549691578 | FBN2 | c.2554+9T>G (n.2554+9T>G) c.2455+9T>G (n.2455+9T>G) c.2551+9T>G (n.2551+9T>G) c.2401+9T>G (n.2401+9T>G) | |
5 | g.128361716C= | CA1581284168 | FBN2 | c.2554+7G= (n.2554+7G=) c.2455+7G= (n.2455+7G=) c.2551+7G= (n.2551+7G=) c.2401+7G= (n.2401+7G=) | |
5 | g.128361716C>T | CA3395519 | FBN2 | c.2554+7G>A (n.2554+7G>A) c.2455+7G>A (n.2455+7G>A) c.2551+7G>A (n.2551+7G>A) c.2401+7G>A (n.2401+7G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361717T>C | CA127029906 | FBN2 | c.2554+6A>G (n.2554+6A>G) c.2455+6A>G (n.2455+6A>G) c.2551+6A>G (n.2551+6A>G) c.2401+6A>G (n.2401+6A>G) | dbSNP gnomAD v4 |
5 | g.128361717T= | CA1581284169 | FBN2 | c.2554+6A= (n.2554+6A=) c.2455+6A= (n.2455+6A=) c.2551+6A= (n.2551+6A=) c.2401+6A= (n.2401+6A=) | |
5 | g.128361718C>A | CA2573139025 | FBN2 | c.2554+5G>T (n.2554+5G>T) c.2455+5G>T (n.2455+5G>T) c.2551+5G>T (n.2551+5G>T) c.2401+5G>T (n.2401+5G>T) | ClinVar dbSNP gnomAD v4 |
5 | g.128361721A>C | CA360767887 | FBN2 | c.2554+2T>G (n.2554+2T>G) c.2455+2T>G (n.2455+2T>G) c.2551+2T>G (n.2551+2T>G) c.2401+2T>G (n.2401+2T>G) | |
5 | g.128361721A>G | CA360767889 | FBN2 | c.2554+2T>C (n.2554+2T>C) c.2455+2T>C (n.2455+2T>C) c.2551+2T>C (n.2551+2T>C) c.2401+2T>C (n.2401+2T>C) | |
5 | g.128361721A>T | CA360767891 | FBN2 | c.2554+2T>A (n.2554+2T>A) c.2455+2T>A (n.2455+2T>A) c.2551+2T>A (n.2551+2T>A) c.2401+2T>A (n.2401+2T>A) | |
5 | g.128361721dup | CA2675118887 | FBN2 | c.2554+2dup (n.2554+2dup) c.2455+2dup (n.2455+2dup) c.2551+2dup (n.2551+2dup) c.2401+2dup (n.2401+2dup) | gnomAD v4 |
5 | g.128361722C>A | CA360767893 | FBN2 | c.2554+1G>T (n.2554+1G>T) c.2455+1G>T (n.2455+1G>T) c.2551+1G>T (n.2551+1G>T) c.2401+1G>T (n.2401+1G>T) | |
5 | g.128361722C>G | CA360767895 | FBN2 | c.2554+1G>C (n.2554+1G>C) c.2455+1G>C (n.2455+1G>C) c.2551+1G>C (n.2551+1G>C) c.2401+1G>C (n.2401+1G>C) | |
5 | g.128361722C>T | CA360767896 | FBN2 | c.2554+1G>A (n.2554+1G>A) c.2455+1G>A (n.2455+1G>A) c.2551+1G>A (n.2551+1G>A) c.2401+1G>A (n.2401+1G>A) | |
5 | g.128361723C>A | CA360767899 | FBN2 | c.2554G>T (p.Asp852Tyr) c.2455G>T (p.Asp819Tyr) c.2551G>T (p.Asp851Tyr) c.2401G>T (p.Asp801Tyr) | |
5 | g.128361723C= | CA1581284170 | FBN2 | c.2554G= (p.Asp852=) c.2455G= (p.Asp819=) c.2551G= (p.Asp851=) c.2401G= (p.Asp801=) | |
5 | g.128361723C>G | CA360767902 | FBN2 | c.2554G>C (p.Asp852His) c.2455G>C (p.Asp819His) c.2551G>C (p.Asp851His) c.2401G>C (p.Asp801His) | |
5 | g.128361723C>T | CA360767900 | FBN2 | c.2554G>A (p.Asp852Asn) c.2455G>A (p.Asp819Asn) c.2551G>A (p.Asp851Asn) c.2401G>A (p.Asp801Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361724T>A | CA360767904 | FBN2 | c.2553A>T (p.Glu851Asp) c.2454A>T (p.Glu818Asp) c.2550A>T (p.Glu850Asp) c.2400A>T (p.Glu800Asp) | |
5 | g.128361724T>C | CA446312373 | FBN2 | c.2553A>G (p.Glu851=) c.2454A>G (p.Glu818=) c.2550A>G (p.Glu850=) c.2400A>G (p.Glu800=) | |
5 | g.128361724T>G | CA360767905 | FBN2 | c.2553A>C (p.Glu851Asp) c.2454A>C (p.Glu818Asp) c.2550A>C (p.Glu850Asp) c.2400A>C (p.Glu800Asp) | |
5 | g.128361725T>A | CA360767908 | FBN2 | c.2552A>T (p.Glu851Val) c.2453A>T (p.Glu818Val) c.2549A>T (p.Glu850Val) c.2399A>T (p.Glu800Val) | |
5 | g.128361725T>C | CA3395520 | FBN2 | c.2552A>G (p.Glu851Gly) c.2453A>G (p.Glu818Gly) c.2549A>G (p.Glu850Gly) c.2399A>G (p.Glu800Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361725T>G | CA360767909 | FBN2 | c.2552A>C (p.Glu851Ala) c.2453A>C (p.Glu818Ala) c.2549A>C (p.Glu850Ala) c.2399A>C (p.Glu800Ala) | |
5 | g.128361725T= | CA1581284171 | FBN2 | c.2552A= (p.Glu851=) c.2453A= (p.Glu818=) c.2549A= (p.Glu850=) c.2399A= (p.Glu800=) | |
5 | g.128361726C>A | CA360767910 | FBN2 | c.2551G>T (p.Glu851Ter) c.2452G>T (p.Glu818Ter) c.2548G>T (p.Glu850Ter) c.2398G>T (p.Glu800Ter) | |
5 | g.128361726C>G | CA360767911 | FBN2 | c.2551G>C (p.Glu851Gln) c.2452G>C (p.Glu818Gln) c.2548G>C (p.Glu850Gln) c.2398G>C (p.Glu800Gln) | |
5 | g.128361726C>T | CA360767912 | FBN2 | c.2551G>A (p.Glu851Lys) c.2452G>A (p.Glu818Lys) c.2548G>A (p.Glu850Lys) c.2398G>A (p.Glu800Lys) | |
5 | g.128361727A>C | CA360767913 | FBN2 | c.2550T>G (p.Cys850Trp) c.2451T>G (p.Cys817Trp) c.2547T>G (p.Cys849Trp) c.2397T>G (p.Cys799Trp) | |
5 | g.128361727A>G | CA446312374 | FBN2 | c.2550T>C (p.Cys850=) c.2451T>C (p.Cys817=) c.2547T>C (p.Cys849=) c.2397T>C (p.Cys799=) | |
5 | g.128361727A>T | CA360767914 | FBN2 | c.2550T>A (p.Cys850Ter) c.2451T>A (p.Cys817Ter) c.2547T>A (p.Cys849Ter) c.2397T>A (p.Cys799Ter) | |
5 | g.128361728C>A | CA360767915 | FBN2 | c.2549G>T (p.Cys850Phe) c.2450G>T (p.Cys817Phe) c.2546G>T (p.Cys849Phe) c.2396G>T (p.Cys799Phe) | |
5 | g.128361728C>G | CA360767916 | FBN2 | c.2549G>C (p.Cys850Ser) c.2450G>C (p.Cys817Ser) c.2546G>C (p.Cys849Ser) c.2396G>C (p.Cys799Ser) | |
5 | g.128361728C>T | CA360767917 | FBN2 | c.2549G>A (p.Cys850Tyr) c.2450G>A (p.Cys817Tyr) c.2546G>A (p.Cys849Tyr) c.2396G>A (p.Cys799Tyr) | |
5 | g.128361729A>C | CA360767920 | FBN2 | c.2548T>G (p.Cys850Gly) c.2449T>G (p.Cys817Gly) c.2545T>G (p.Cys849Gly) c.2395T>G (p.Cys799Gly) | |
5 | g.128361729A>G | CA360767918 | FBN2 | c.2548T>C (p.Cys850Arg) c.2449T>C (p.Cys817Arg) c.2545T>C (p.Cys849Arg) c.2395T>C (p.Cys799Arg) | |
5 | g.128361729A>T | CA360767919 | FBN2 | c.2548T>A (p.Cys850Ser) c.2449T>A (p.Cys817Ser) c.2545T>A (p.Cys849Ser) c.2395T>A (p.Cys799Ser) | |
5 | g.128361730G>A | CA3395521 | FBN2 | c.2547C>T (p.Thr849=) c.2448C>T (p.Thr816=) c.2544C>T (p.Thr848=) c.2394C>T (p.Thr798=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361730G>C | CA446312375 | FBN2 | c.2547C>G (p.Thr849=) c.2448C>G (p.Thr816=) c.2544C>G (p.Thr848=) c.2394C>G (p.Thr798=) | |
5 | g.128361730G= | CA1581284172 | FBN2 | c.2547C= (p.Thr849=) c.2448C= (p.Thr816=) c.2544C= (p.Thr848=) c.2394C= (p.Thr798=) | |
5 | g.128361730G>T | CA446312376 | FBN2 | c.2547C>A (p.Thr849=) c.2448C>A (p.Thr816=) c.2544C>A (p.Thr848=) c.2394C>A (p.Thr798=) | |
5 | g.128361731G>A | CA360767921 | FBN2 | c.2546C>T (p.Thr849Ile) c.2447C>T (p.Thr816Ile) c.2543C>T (p.Thr848Ile) c.2393C>T (p.Thr798Ile) | dbSNP |
5 | g.128361731G>C | CA360767922 | FBN2 | c.2546C>G (p.Thr849Ser) c.2447C>G (p.Thr816Ser) c.2543C>G (p.Thr848Ser) c.2393C>G (p.Thr798Ser) | |
5 | g.128361731G= | CA1581284173 | FBN2 | c.2546C= (p.Thr849=) c.2447C= (p.Thr816=) c.2543C= (p.Thr848=) c.2393C= (p.Thr798=) | |
5 | g.128361731G>T | CA360767923 | FBN2 | c.2546C>A (p.Thr849Asn) c.2447C>A (p.Thr816Asn) c.2543C>A (p.Thr848Asn) c.2393C>A (p.Thr798Asn) | gnomAD v4 |
5 | g.128361732T>A | CA360767924 | FBN2 | c.2545A>T (p.Thr849Ser) c.2446A>T (p.Thr816Ser) c.2542A>T (p.Thr848Ser) c.2392A>T (p.Thr798Ser) | |
5 | g.128361732T>C | CA360767925 | FBN2 | c.2545A>G (p.Thr849Ala) c.2446A>G (p.Thr816Ala) c.2542A>G (p.Thr848Ala) c.2392A>G (p.Thr798Ala) | dbSNP |
5 | g.128361732T>G | CA360767926 | FBN2 | c.2545A>C (p.Thr849Pro) c.2446A>C (p.Thr816Pro) c.2542A>C (p.Thr848Pro) c.2392A>C (p.Thr798Pro) | |
5 | g.128361732T= | CA1581284174 | FBN2 | c.2545A= (p.Thr849=) c.2446A= (p.Thr816=) c.2542A= (p.Thr848=) c.2392A= (p.Thr798=) | |
5 | g.128361733C>A | CA360767927 | FBN2 | c.2544G>T (p.Glu848Asp) c.2445G>T (p.Glu815Asp) c.2541G>T (p.Glu847Asp) c.2391G>T (p.Glu797Asp) | |
5 | g.128361733C>G | CA360767928 | FBN2 | c.2544G>C (p.Glu848Asp) c.2445G>C (p.Glu815Asp) c.2541G>C (p.Glu847Asp) c.2391G>C (p.Glu797Asp) | |
5 | g.128361733C>T | CA446312377 | FBN2 | c.2544G>A (p.Glu848=) c.2445G>A (p.Glu815=) c.2541G>A (p.Glu847=) c.2391G>A (p.Glu797=) | COSMIC COSMIC |
5 | g.128361734T>A | CA360767929 | FBN2 | c.2543A>T (p.Glu848Val) c.2444A>T (p.Glu815Val) c.2540A>T (p.Glu847Val) c.2390A>T (p.Glu797Val) | |
5 | g.128361734T>C | CA360767930 | FBN2 | c.2543A>G (p.Glu848Gly) c.2444A>G (p.Glu815Gly) c.2540A>G (p.Glu847Gly) c.2390A>G (p.Glu797Gly) | |
5 | g.128361734T>G | CA360767931 | FBN2 | c.2543A>C (p.Glu848Ala) c.2444A>C (p.Glu815Ala) c.2540A>C (p.Glu847Ala) c.2390A>C (p.Glu797Ala) | |
5 | g.128361735C>A | CA360767932 | FBN2 | c.2542G>T (p.Glu848Ter) c.2443G>T (p.Glu815Ter) c.2539G>T (p.Glu847Ter) c.2389G>T (p.Glu797Ter) | dbSNP gnomAD v2 |
5 | g.128361735C= | CA1581284175 | FBN2 | c.2542G= (p.Glu848=) c.2443G= (p.Glu815=) c.2539G= (p.Glu847=) c.2389G= (p.Glu797=) | |
5 | g.128361735C>G | CA360767934 | FBN2 | c.2542G>C (p.Glu848Gln) c.2443G>C (p.Glu815Gln) c.2539G>C (p.Glu847Gln) c.2389G>C (p.Glu797Gln) | |
5 | g.128361735C>T | CA360767933 | FBN2 | c.2542G>A (p.Glu848Lys) c.2443G>A (p.Glu815Lys) c.2539G>A (p.Glu847Lys) c.2389G>A (p.Glu797Lys) | |
5 | g.128361736T>A | CA446312378 | FBN2 | c.2541A>T (p.Thr847=) c.2442A>T (p.Thr814=) c.2538A>T (p.Thr846=) c.2388A>T (p.Thr796=) | |
5 | g.128361736T>C | CA446312379 | FBN2 | c.2541A>G (p.Thr847=) c.2442A>G (p.Thr814=) c.2538A>G (p.Thr846=) c.2388A>G (p.Thr796=) | gnomAD v4 |
5 | g.128361736T>G | CA446312380 | FBN2 | c.2541A>C (p.Thr847=) c.2442A>C (p.Thr814=) c.2538A>C (p.Thr846=) c.2388A>C (p.Thr796=) | |
5 | g.128361737G>A | CA360767935 | FBN2 | c.2540C>T (p.Thr847Ile) c.2441C>T (p.Thr814Ile) c.2537C>T (p.Thr846Ile) c.2387C>T (p.Thr796Ile) | gnomAD v4 |
5 | g.128361737G>C | CA360767936 | FBN2 | c.2540C>G (p.Thr847Arg) c.2441C>G (p.Thr814Arg) c.2537C>G (p.Thr846Arg) c.2387C>G (p.Thr796Arg) | |
5 | g.128361737G>T | CA360767937 | FBN2 | c.2540C>A (p.Thr847Lys) c.2441C>A (p.Thr814Lys) c.2537C>A (p.Thr846Lys) c.2387C>A (p.Thr796Lys) | gnomAD v4 |
5 | g.128361738T>A | CA360767938 | FBN2 | c.2539A>T (p.Thr847Ser) c.2440A>T (p.Thr814Ser) c.2536A>T (p.Thr846Ser) c.2386A>T (p.Thr796Ser) | |
5 | g.128361738T>C | CA10582359 | FBN2 | c.2539A>G (p.Thr847Ala) c.2440A>G (p.Thr814Ala) c.2536A>G (p.Thr846Ala) c.2386A>G (p.Thr796Ala) | ClinVar dbSNP |
5 | g.128361738T>G | CA360767939 | FBN2 | c.2539A>C (p.Thr847Pro) c.2440A>C (p.Thr814Pro) c.2536A>C (p.Thr846Pro) c.2386A>C (p.Thr796Pro) | |
5 | g.128361738T= | CA1581284176 | FBN2 | c.2539A= (p.Thr847=) c.2440A= (p.Thr814=) c.2536A= (p.Thr846=) c.2386A= (p.Thr796=) | |
5 | g.128361739C>A | CA360767941 | FBN2 | c.2538G>T (p.Glu846Asp) c.2439G>T (p.Glu813Asp) c.2535G>T (p.Glu845Asp) c.2385G>T (p.Glu795Asp) | |
5 | g.128361739C>G | CA360767940 | FBN2 | c.2538G>C (p.Glu846Asp) c.2439G>C (p.Glu813Asp) c.2535G>C (p.Glu845Asp) c.2385G>C (p.Glu795Asp) | |
5 | g.128361739C>T | CA446312381 | FBN2 | c.2538G>A (p.Glu846=) c.2439G>A (p.Glu813=) c.2535G>A (p.Glu845=) c.2385G>A (p.Glu795=) | ClinVar gnomAD v4 |
5 | g.128361740T>A | CA360767942 | FBN2 | c.2537A>T (p.Glu846Val) c.2438A>T (p.Glu813Val) c.2534A>T (p.Glu845Val) c.2384A>T (p.Glu795Val) | |
5 | g.128361740T>C | CA360767943 | FBN2 | c.2537A>G (p.Glu846Gly) c.2438A>G (p.Glu813Gly) c.2534A>G (p.Glu845Gly) c.2384A>G (p.Glu795Gly) | |
5 | g.128361740T>G | CA360767944 | FBN2 | c.2537A>C (p.Glu846Ala) c.2438A>C (p.Glu813Ala) c.2534A>C (p.Glu845Ala) c.2384A>C (p.Glu795Ala) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361740T= | CA1581284177 | FBN2 | c.2537A= (p.Glu846=) c.2438A= (p.Glu813=) c.2534A= (p.Glu845=) c.2384A= (p.Glu795=) | |
5 | g.128361741C>A | CA360767945 | FBN2 | c.2536G>T (p.Glu846Ter) c.2437G>T (p.Glu813Ter) c.2533G>T (p.Glu845Ter) c.2383G>T (p.Glu795Ter) | |
5 | g.128361741C= | CA1581284178 | FBN2 | c.2536G= (p.Glu846=) c.2437G= (p.Glu813=) c.2533G= (p.Glu845=) c.2383G= (p.Glu795=) | |
5 | g.128361741C>G | CA360767946 | FBN2 | c.2536G>C (p.Glu846Gln) c.2437G>C (p.Glu813Gln) c.2533G>C (p.Glu845Gln) c.2383G>C (p.Glu795Gln) | gnomAD v4 |
5 | g.128361741C>T | CA321237 | FBN2 | c.2536G>A (p.Glu846Lys) c.2437G>A (p.Glu813Lys) c.2533G>A (p.Glu845Lys) c.2383G>A (p.Glu795Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361742A= | CA1581284179 | FBN2 | c.2535T= (p.Thr845=) c.2436T= (p.Thr812=) c.2532T= (p.Thr844=) c.2382T= (p.Thr794=) | |
5 | g.128361742A>C | CA446312382 | FBN2 | c.2535T>G (p.Thr845=) c.2436T>G (p.Thr812=) c.2532T>G (p.Thr844=) c.2382T>G (p.Thr794=) | dbSNP gnomAD v2 |
5 | g.128361742A>G | CA446312384 | FBN2 | c.2535T>C (p.Thr845=) c.2436T>C (p.Thr812=) c.2532T>C (p.Thr844=) c.2382T>C (p.Thr794=) | dbSNP gnomAD v4 |
5 | g.128361742A>T | CA446312383 | FBN2 | c.2535T>A (p.Thr845=) c.2436T>A (p.Thr812=) c.2532T>A (p.Thr844=) c.2382T>A (p.Thr794=) | |
5 | g.128361743G>A | CA360767949 | FBN2 | c.2534C>T (p.Thr845Ile) c.2435C>T (p.Thr812Ile) c.2531C>T (p.Thr844Ile) c.2381C>T (p.Thr794Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361743G>C | CA360767947 | FBN2 | c.2534C>G (p.Thr845Ser) c.2435C>G (p.Thr812Ser) c.2531C>G (p.Thr844Ser) c.2381C>G (p.Thr794Ser) | |
5 | g.128361743G= | CA1581284180 | FBN2 | c.2534C= (p.Thr845=) c.2435C= (p.Thr812=) c.2531C= (p.Thr844=) c.2381C= (p.Thr794=) | |
5 | g.128361743G>T | CA360767948 | FBN2 | c.2534C>A (p.Thr845Asn) c.2435C>A (p.Thr812Asn) c.2531C>A (p.Thr844Asn) c.2381C>A (p.Thr794Asn) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361744T>A | CA360767950 | FBN2 | c.2533A>T (p.Thr845Ser) c.2434A>T (p.Thr812Ser) c.2530A>T (p.Thr844Ser) c.2380A>T (p.Thr794Ser) | |
5 | g.128361744T>C | CA360767951 | FBN2 | c.2533A>G (p.Thr845Ala) c.2434A>G (p.Thr812Ala) c.2530A>G (p.Thr844Ala) c.2380A>G (p.Thr794Ala) | |
5 | g.128361744T>G | CA3395522 | FBN2 | c.2533A>C (p.Thr845Pro) c.2434A>C (p.Thr812Pro) c.2530A>C (p.Thr844Pro) c.2380A>C (p.Thr794Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361744T= | CA1581284181 | FBN2 | c.2533A= (p.Thr845=) c.2434A= (p.Thr812=) c.2530A= (p.Thr844=) c.2380A= (p.Thr794=) | |
5 | g.128361745C>A | CA360767952 | FBN2 | c.2532G>T (p.Arg844Ser) c.2433G>T (p.Arg811Ser) c.2529G>T (p.Arg843Ser) c.2379G>T (p.Arg793Ser) | |
5 | g.128361745C= | CA1581284182 | FBN2 | c.2532G= (p.Arg844=) c.2433G= (p.Arg811=) c.2529G= (p.Arg843=) c.2379G= (p.Arg793=) | |
5 | g.128361745C>G | CA360767953 | FBN2 | c.2532G>C (p.Arg844Ser) c.2433G>C (p.Arg811Ser) c.2529G>C (p.Arg843Ser) c.2379G>C (p.Arg793Ser) | |
5 | g.128361745C>T | CA3395523 | FBN2 | c.2532G>A (p.Arg844=) c.2433G>A (p.Arg811=) c.2529G>A (p.Arg843=) c.2379G>A (p.Arg793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361746C>A | CA360767954 | FBN2 | c.2531G>T (p.Arg844Met) c.2432G>T (p.Arg811Met) c.2528G>T (p.Arg843Met) c.2378G>T (p.Arg793Met) | |
5 | g.128361746C>G | CA360767955 | FBN2 | c.2531G>C (p.Arg844Thr) c.2432G>C (p.Arg811Thr) c.2528G>C (p.Arg843Thr) c.2378G>C (p.Arg793Thr) | |
5 | g.128361746C>T | CA360767956 | FBN2 | c.2531G>A (p.Arg844Lys) c.2432G>A (p.Arg811Lys) c.2528G>A (p.Arg843Lys) c.2378G>A (p.Arg793Lys) | gnomAD v4 |
5 | g.128361747T>A | CA360767957 | FBN2 | c.2530A>T (p.Arg844Trp) c.2431A>T (p.Arg811Trp) c.2527A>T (p.Arg843Trp) c.2377A>T (p.Arg793Trp) | |
5 | g.128361747T>C | CA360767958 | FBN2 | c.2530A>G (p.Arg844Gly) c.2431A>G (p.Arg811Gly) c.2527A>G (p.Arg843Gly) c.2377A>G (p.Arg793Gly) | ClinVar |
5 | g.128361747T>G | CA446312385 | FBN2 | c.2530A>C (p.Arg844=) c.2431A>C (p.Arg811=) c.2527A>C (p.Arg843=) c.2377A>C (p.Arg793=) | |
5 | g.128361748G>A | CA446312386 | FBN2 | c.2529C>T (p.Phe843=) c.2430C>T (p.Phe810=) c.2526C>T (p.Phe842=) c.2376C>T (p.Phe792=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361748G>C | CA360767959 | FBN2 | c.2529C>G (p.Phe843Leu) c.2430C>G (p.Phe810Leu) c.2526C>G (p.Phe842Leu) c.2376C>G (p.Phe792Leu) | |
5 | g.128361748G= | CA1581284183 | FBN2 | c.2529C= (p.Phe843=) c.2430C= (p.Phe810=) c.2526C= (p.Phe842=) c.2376C= (p.Phe792=) | |
5 | g.128361748G>T | CA360767960 | FBN2 | c.2529C>A (p.Phe843Leu) c.2430C>A (p.Phe810Leu) c.2526C>A (p.Phe842Leu) c.2376C>A (p.Phe792Leu) | gnomAD v4 |
5 | g.128361749A>C | CA360767961 | FBN2 | c.2528T>G (p.Phe843Cys) c.2429T>G (p.Phe810Cys) c.2525T>G (p.Phe842Cys) c.2375T>G (p.Phe792Cys) | |
5 | g.128361749A>G | CA360767963 | FBN2 | c.2528T>C (p.Phe843Ser) c.2429T>C (p.Phe810Ser) c.2525T>C (p.Phe842Ser) c.2375T>C (p.Phe792Ser) | |
5 | g.128361749A>T | CA360767962 | FBN2 | c.2528T>A (p.Phe843Tyr) c.2429T>A (p.Phe810Tyr) c.2525T>A (p.Phe842Tyr) c.2375T>A (p.Phe792Tyr) | |
5 | g.128361750A>C | CA360767964 | FBN2 | c.2527T>G (p.Phe843Val) c.2428T>G (p.Phe810Val) c.2524T>G (p.Phe842Val) c.2374T>G (p.Phe792Val) | |
5 | g.128361750A>G | CA360767965 | FBN2 | c.2527T>C (p.Phe843Leu) c.2428T>C (p.Phe810Leu) c.2524T>C (p.Phe842Leu) c.2374T>C (p.Phe792Leu) | |
5 | g.128361750A>T | CA360767966 | FBN2 | c.2527T>A (p.Phe843Ile) c.2428T>A (p.Phe810Ile) c.2524T>A (p.Phe842Ile) c.2374T>A (p.Phe792Ile) | COSMIC COSMIC |
5 | g.128361751C>A | CA446312387 | FBN2 | c.2526G>T (p.Val842=) c.2427G>T (p.Val809=) c.2523G>T (p.Val841=) c.2373G>T (p.Val791=) | |
5 | g.128361751C= | CA1581284184 | FBN2 | c.2526G= (p.Val842=) c.2427G= (p.Val809=) c.2523G= (p.Val841=) c.2373G= (p.Val791=) | |
5 | g.128361751C>G | CA446312388 | FBN2 | c.2526G>C (p.Val842=) c.2427G>C (p.Val809=) c.2523G>C (p.Val841=) c.2373G>C (p.Val791=) | |
5 | g.128361751C>T | CA3395524 | FBN2 | c.2526G>A (p.Val842=) c.2427G>A (p.Val809=) c.2523G>A (p.Val841=) c.2373G>A (p.Val791=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361752A>C | CA360767967 | FBN2 | c.2525T>G (p.Val842Gly) c.2426T>G (p.Val809Gly) c.2522T>G (p.Val841Gly) c.2372T>G (p.Val791Gly) | |
5 | g.128361752A>G | CA360767968 | FBN2 | c.2525T>C (p.Val842Ala) c.2426T>C (p.Val809Ala) c.2522T>C (p.Val841Ala) c.2372T>C (p.Val791Ala) | |
5 | g.128361752A>T | CA360767969 | FBN2 | c.2525T>A (p.Val842Glu) c.2426T>A (p.Val809Glu) c.2522T>A (p.Val841Glu) c.2372T>A (p.Val791Glu) | |
5 | g.128361753C>A | CA360767970 | FBN2 | c.2524G>T (p.Val842Leu) c.2425G>T (p.Val809Leu) c.2521G>T (p.Val841Leu) c.2371G>T (p.Val791Leu) | |
5 | g.128361753C>G | CA360767971 | FBN2 | c.2524G>C (p.Val842Leu) c.2425G>C (p.Val809Leu) c.2521G>C (p.Val841Leu) c.2371G>C (p.Val791Leu) | |
5 | g.128361753C>T | CA360767972 | FBN2 | c.2524G>A (p.Val842Met) c.2425G>A (p.Val809Met) c.2521G>A (p.Val841Met) c.2371G>A (p.Val791Met) | |
5 | g.128361754A>C | CA360767973 | FBN2 | c.2523T>G (p.Tyr841Ter) c.2424T>G (p.Tyr808Ter) c.2520T>G (p.Tyr840Ter) c.2370T>G (p.Tyr790Ter) | |
5 | g.128361754A>G | CA446312389 | FBN2 | c.2523T>C (p.Tyr841=) c.2424T>C (p.Tyr808=) c.2520T>C (p.Tyr840=) c.2370T>C (p.Tyr790=) | |
5 | g.128361754A>T | CA360767974 | FBN2 | c.2523T>A (p.Tyr841Ter) c.2424T>A (p.Tyr808Ter) c.2520T>A (p.Tyr840Ter) c.2370T>A (p.Tyr790Ter) | |
5 | g.128361755T>A | CA3395526 | FBN2 | c.2522A>T (p.Tyr841Phe) c.2423A>T (p.Tyr808Phe) c.2519A>T (p.Tyr840Phe) c.2369A>T (p.Tyr790Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361755T>C | CA3395525 | FBN2 | c.2522A>G (p.Tyr841Cys) c.2423A>G (p.Tyr808Cys) c.2519A>G (p.Tyr840Cys) c.2369A>G (p.Tyr790Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361755T>G | CA360767975 | FBN2 | c.2522A>C (p.Tyr841Ser) c.2423A>C (p.Tyr808Ser) c.2519A>C (p.Tyr840Ser) c.2369A>C (p.Tyr790Ser) | |
5 | g.128361755T= | CA1581284185 | FBN2 | c.2522A= (p.Tyr841=) c.2423A= (p.Tyr808=) c.2519A= (p.Tyr840=) c.2369A= (p.Tyr790=) | |
5 | g.128361756A>C | CA360767976 | FBN2 | c.2521T>G (p.Tyr841Asp) c.2422T>G (p.Tyr808Asp) c.2518T>G (p.Tyr840Asp) c.2368T>G (p.Tyr790Asp) | |
5 | g.128361756A>G | CA360767977 | FBN2 | c.2521T>C (p.Tyr841His) c.2422T>C (p.Tyr808His) c.2518T>C (p.Tyr840His) c.2368T>C (p.Tyr790His) | |
5 | g.128361756A>T | CA360767978 | FBN2 | c.2521T>A (p.Tyr841Asn) c.2422T>A (p.Tyr808Asn) c.2518T>A (p.Tyr840Asn) c.2368T>A (p.Tyr790Asn) | gnomAD v4 |
5 | g.128361757C>A | CA446312390 | FBN2 | c.2520G>T (p.Gly840=) c.2421G>T (p.Gly807=) c.2517G>T (p.Gly839=) c.2367G>T (p.Gly789=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361757C= | CA1581284186 | FBN2 | c.2520G= (p.Gly840=) c.2421G= (p.Gly807=) c.2517G= (p.Gly839=) c.2367G= (p.Gly789=) | |
5 | g.128361757C>G | CA446312391 | FBN2 | c.2520G>C (p.Gly840=) c.2421G>C (p.Gly807=) c.2517G>C (p.Gly839=) c.2367G>C (p.Gly789=) | gnomAD v4 |
5 | g.128361757C>T | CA446312392 | FBN2 | c.2520G>A (p.Gly840=) c.2421G>A (p.Gly807=) c.2517G>A (p.Gly839=) c.2367G>A (p.Gly789=) | dbSNP gnomAD v4 |
5 | g.128361758C>A | CA360767979 | FBN2 | c.2519G>T (p.Gly840Val) c.2420G>T (p.Gly807Val) c.2516G>T (p.Gly839Val) c.2366G>T (p.Gly789Val) | |
5 | g.128361758C= | CA1581284187 | FBN2 | c.2519G= (p.Gly840=) c.2420G= (p.Gly807=) c.2516G= (p.Gly839=) c.2366G= (p.Gly789=) | |
5 | g.128361758C>G | CA360767980 | FBN2 | c.2519G>C (p.Gly840Ala) c.2420G>C (p.Gly807Ala) c.2516G>C (p.Gly839Ala) c.2366G>C (p.Gly789Ala) | |
5 | g.128361758C>T | CA360767981 | FBN2 | c.2519G>A (p.Gly840Glu) c.2420G>A (p.Gly807Glu) c.2516G>A (p.Gly839Glu) c.2366G>A (p.Gly789Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361759C>A | CA360767982 | FBN2 | c.2518G>T (p.Gly840Trp) c.2419G>T (p.Gly807Trp) c.2515G>T (p.Gly839Trp) c.2365G>T (p.Gly789Trp) | |
5 | g.128361759C>G | CA360767983 | FBN2 | c.2518G>C (p.Gly840Arg) c.2419G>C (p.Gly807Arg) c.2515G>C (p.Gly839Arg) c.2365G>C (p.Gly789Arg) | |
5 | g.128361759C>T | CA360767984 | FBN2 | c.2518G>A (p.Gly840Arg) c.2419G>A (p.Gly807Arg) c.2515G>A (p.Gly839Arg) c.2365G>A (p.Gly789Arg) | COSMIC COSMIC |
5 | g.128361760T>A | CA446312393 | FBN2 | c.2517A>T (p.Pro839=) c.2418A>T (p.Pro806=) c.2514A>T (p.Pro838=) c.2364A>T (p.Pro788=) | |
5 | g.128361760T>C | CA446312394 | FBN2 | c.2517A>G (p.Pro839=) c.2418A>G (p.Pro806=) c.2514A>G (p.Pro838=) c.2364A>G (p.Pro788=) | ClinVar dbSNP |
5 | g.128361760T>G | CA446312395 | FBN2 | c.2517A>C (p.Pro839=) c.2418A>C (p.Pro806=) c.2514A>C (p.Pro838=) c.2364A>C (p.Pro788=) | |
5 | g.128361760T= | CA1581284188 | FBN2 | c.2517A= (p.Pro839=) c.2418A= (p.Pro806=) c.2514A= (p.Pro838=) c.2364A= (p.Pro788=) | |
5 | g.128361761G>A | CA360767985 | FBN2 | c.2516C>T (p.Pro839Leu) c.2417C>T (p.Pro806Leu) c.2513C>T (p.Pro838Leu) c.2363C>T (p.Pro788Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361761G>C | CA360767986 | FBN2 | c.2516C>G (p.Pro839Arg) c.2417C>G (p.Pro806Arg) c.2513C>G (p.Pro838Arg) c.2363C>G (p.Pro788Arg) | gnomAD v4 |
5 | g.128361761G= | CA1581284189 | FBN2 | c.2516C= (p.Pro839=) c.2417C= (p.Pro806=) c.2513C= (p.Pro838=) c.2363C= (p.Pro788=) | |
5 | g.128361761G>T | CA360767987 | FBN2 | c.2516C>A (p.Pro839Gln) c.2417C>A (p.Pro806Gln) c.2513C>A (p.Pro838Gln) c.2363C>A (p.Pro788Gln) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.128361762G>A | CA360767988 | FBN2 | c.2515C>T (p.Pro839Ser) c.2416C>T (p.Pro806Ser) c.2512C>T (p.Pro838Ser) c.2362C>T (p.Pro788Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361762G>C | CA360767989 | FBN2 | c.2515C>G (p.Pro839Ala) c.2416C>G (p.Pro806Ala) c.2512C>G (p.Pro838Ala) c.2362C>G (p.Pro788Ala) | |
5 | g.128361762G= | CA1581284190 | FBN2 | c.2515C= (p.Pro839=) c.2416C= (p.Pro806=) c.2512C= (p.Pro838=) c.2362C= (p.Pro788=) | |
5 | g.128361762G>T | CA3395527 | FBN2 | c.2515C>A (p.Pro839Thr) c.2416C>A (p.Pro806Thr) c.2512C>A (p.Pro838Thr) c.2362C>A (p.Pro788Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.128361763T>A | CA446312397 | FBN2 | c.2514A>T (p.Pro838=) c.2415A>T (p.Pro805=) c.2511A>T (p.Pro837=) c.2361A>T (p.Pro787=) | |
5 | g.128361763T>C | CA446312398 | FBN2 | c.2514A>G (p.Pro838=) c.2415A>G (p.Pro805=) c.2511A>G (p.Pro837=) c.2361A>G (p.Pro787=) | |
5 | g.128361763T>G | CA446312396 | FBN2 | c.2514A>C (p.Pro838=) c.2415A>C (p.Pro805=) c.2511A>C (p.Pro837=) c.2361A>C (p.Pro787=) | |
5 | g.128361764G>A | CA360767990 | FBN2 | c.2513C>T (p.Pro838Leu) c.2414C>T (p.Pro805Leu) c.2510C>T (p.Pro837Leu) c.2360C>T (p.Pro787Leu) | |
5 | g.128361764G>C | CA360767992 | FBN2 | c.2513C>G (p.Pro838Arg) c.2414C>G (p.Pro805Arg) c.2510C>G (p.Pro837Arg) c.2360C>G (p.Pro787Arg) | |
5 | g.128361764G>T | CA360767991 | FBN2 | c.2513C>A (p.Pro838Gln) c.2414C>A (p.Pro805Gln) c.2510C>A (p.Pro837Gln) c.2360C>A (p.Pro787Gln) | |
5 | g.128361765G>A | CA360767993 | FBN2 | c.2512C>T (p.Pro838Ser) c.2413C>T (p.Pro805Ser) c.2509C>T (p.Pro837Ser) c.2359C>T (p.Pro787Ser) | |
5 | g.128361765G>C | CA360767994 | FBN2 | c.2512C>G (p.Pro838Ala) c.2413C>G (p.Pro805Ala) c.2509C>G (p.Pro837Ala) c.2359C>G (p.Pro787Ala) | |
5 | g.128361765G>T | CA360767995 | FBN2 | c.2512C>A (p.Pro838Thr) c.2413C>A (p.Pro805Thr) c.2509C>A (p.Pro837Thr) c.2359C>A (p.Pro787Thr) | |
5 | g.128361766G>A | CA3395528 | FBN2 | c.2511C>T (p.Cys837=) c.2412C>T (p.Cys804=) c.2508C>T (p.Cys836=) c.2358C>T (p.Cys786=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361766G>C | CA360767996 | FBN2 | c.2511C>G (p.Cys837Trp) c.2412C>G (p.Cys804Trp) c.2508C>G (p.Cys836Trp) c.2358C>G (p.Cys786Trp) | |
5 | g.128361766G= | CA1581284191 | FBN2 | c.2511C= (p.Cys837=) c.2412C= (p.Cys804=) c.2508C= (p.Cys836=) c.2358C= (p.Cys786=) | |
5 | g.128361766G>T | CA360767997 | FBN2 | c.2511C>A (p.Cys837Ter) c.2412C>A (p.Cys804Ter) c.2508C>A (p.Cys836Ter) c.2358C>A (p.Cys786Ter) | |
5 | g.128361767C>A | CA360767998 | FBN2 | c.2510G>T (p.Cys837Phe) c.2411G>T (p.Cys804Phe) c.2507G>T (p.Cys836Phe) c.2357G>T (p.Cys786Phe) | |
5 | g.128361767C>G | CA360767999 | FBN2 | c.2510G>C (p.Cys837Ser) c.2411G>C (p.Cys804Ser) c.2507G>C (p.Cys836Ser) c.2357G>C (p.Cys786Ser) | |
5 | g.128361767C>T | CA360768000 | FBN2 | c.2510G>A (p.Cys837Tyr) c.2411G>A (p.Cys804Tyr) c.2507G>A (p.Cys836Tyr) c.2357G>A (p.Cys786Tyr) | |
5 | g.128361768A>C | CA360768001 | FBN2 | c.2509T>G (p.Cys837Gly) c.2410T>G (p.Cys804Gly) c.2506T>G (p.Cys836Gly) c.2356T>G (p.Cys786Gly) | |
5 | g.128361768A>G | CA360768002 | FBN2 | c.2509T>C (p.Cys837Arg) c.2410T>C (p.Cys804Arg) c.2506T>C (p.Cys836Arg) c.2356T>C (p.Cys786Arg) | |
5 | g.128361768A>T | CA360768003 | FBN2 | c.2509T>A (p.Cys837Ser) c.2410T>A (p.Cys804Ser) c.2506T>A (p.Cys836Ser) c.2356T>A (p.Cys786Ser) | |
5 | g.128361769C>A | CA446312399 | FBN2 | c.2508G>T (p.Thr836=) c.2409G>T (p.Thr803=) c.2505G>T (p.Thr835=) c.2355G>T (p.Thr785=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.128361769C= | CA1581284192 | FBN2 | c.2508G= (p.Thr836=) c.2409G= (p.Thr803=) c.2505G= (p.Thr835=) c.2355G= (p.Thr785=) | |
5 | g.128361769C>G | CA446312400 | FBN2 | c.2508G>C (p.Thr836=) c.2409G>C (p.Thr803=) c.2505G>C (p.Thr835=) c.2355G>C (p.Thr785=) | gnomAD v4 |
5 | g.128361769C>T | CA290861 | FBN2 | c.2508G>A (p.Thr836=) c.2409G>A (p.Thr803=) c.2505G>A (p.Thr835=) c.2355G>A (p.Thr785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.128361770G>A | CA127029967 | FBN2 | c.2507C>T (p.Thr836Met) c.2408C>T (p.Thr803Met) c.2504C>T (p.Thr835Met) c.2354C>T (p.Thr785Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.128361770G>C | CA360768005 | FBN2 | c.2507C>G (p.Thr836Arg) c.2408C>G (p.Thr803Arg) c.2504C>G (p.Thr835Arg) c.2354C>G (p.Thr785Arg) | |
5 | g.128361770G= | CA1581284193 | FBN2 | c.2507C= (p.Thr836=) c.2408C= (p.Thr803=) c.2504C= (p.Thr835=) c.2354C= (p.Thr785=) | |
5 | g.128361770G>T | CA360768004 | FBN2 | c.2507C>A (p.Thr836Lys) c.2408C>A (p.Thr803Lys) c.2504C>A (p.Thr835Lys) c.2354C>A (p.Thr785Lys) | gnomAD v4 |
5 | g.128361771T>A | CA360768006 | FBN2 | c.2506A>T (p.Thr836Ser) c.2407A>T (p.Thr803Ser) c.2503A>T (p.Thr835Ser) c.2353A>T (p.Thr785Ser) | ClinVar |
5 | g.128361771T>C | CA360768007 | FBN2 | c.2506A>G (p.Thr836Ala) c.2407A>G (p.Thr803Ala) c.2503A>G (p.Thr835Ala) c.2353A>G (p.Thr785Ala) | |
5 | g.128361771T>G | CA360768008 | FBN2 | c.2506A>C (p.Thr836Pro) c.2407A>C (p.Thr803Pro) c.2503A>C (p.Thr835Pro) c.2353A>C (p.Thr785Pro) |