Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48612992A>G | CA2628338237 | FBN1 | c.247+18T>C (n.247+18T>C) | gnomAD v4 |
15 | g.48612998C>G | CA2804074519 | FBN1 | c.247+12G>C (n.247+12G>C) | |
15 | g.48613000A= | CA2175574445 | FBN1 | c.247+10T= (n.247+10T=) | |
15 | g.48613000A>G | CA013091 | FBN1 | c.247+10T>C (n.247+10T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48613000A>T | CA2628338238 | FBN1 | c.247+10T>A (n.247+10T>A) | gnomAD v4 |
15 | g.48613001T>C | CA2573050652 | FBN1 | c.247+9A>G (n.247+9A>G) | ClinVar dbSNP |
15 | g.48613001T>G | CA658798369 | FBN1 | c.247+9A>C (n.247+9A>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48613001T= | CA2175574446 | FBN1 | c.247+9A= (n.247+9A=) | |
15 | g.48613002T>G | CA713375123 | FBN1 | c.247+8A>C (n.247+8A>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48613002T= | CA2175574447 | FBN1 | c.247+8A= (n.247+8A=) | |
15 | g.48613005C= | CA2175574448 | FBN1 | c.247+5G= (n.247+5G=) | |
15 | g.48613005C>G | CA2580089574 | FBN1 | c.247+5G>C (n.247+5G>C) | ClinVar |
15 | g.48613005C>T | CA1139663967 | FBN1 | c.247+5G>A (n.247+5G>A) | ClinVar dbSNP |
15 | g.48613006T>A | CA645587491 | FBN1 | c.247+4A>T (n.247+4A>T) | COSMIC |
15 | g.48613007del | CA2580089575 | FBN1 | c.247+4del (n.247+4del) | ClinVar |
15 | g.48613007T>A | CA2695220691 | FBN1 | c.247+3A>T (n.247+3A>T) | |
15 | g.48613007T>C | CA047706 | FBN1 | c.247+3A>G (n.247+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48613007T>G | CA891843977 | FBN1 | c.247+3A>C (n.247+3A>C) | ClinVar dbSNP |
15 | g.48613007T= | CA2175574449 | FBN1 | c.247+3A= (n.247+3A=) | |
15 | g.48613008A>C | CA392448093 | FBN1 | c.247+2T>G (n.247+2T>G) | |
15 | g.48613008A>G | CA392448089 | FBN1 | c.247+2T>C (n.247+2T>C) | gnomAD v4 |
15 | g.48613008A>T | CA392448086 | FBN1 | c.247+2T>A (n.247+2T>A) | |
15 | g.48613008dup | CA013108 | FBN1 | c.247+2dup (n.247+2dup) | ClinVar dbSNP |
15 | g.48613009C>A | CA392448097 | FBN1 | c.247+1G>T (n.247+1G>T) | ClinVar dbSNP |
15 | g.48613009C= | CA2175574450 | FBN1 | c.247+1G= (n.247+1G=) | |
15 | g.48613009C>G | CA392448101 | FBN1 | c.247+1G>C (n.247+1G>C) | |
15 | g.48613009C>T | CA013099 | FBN1 | c.247+1G>A (n.247+1G>A) | ClinVar dbSNP gnomAD v4 |
15 | g.48613010G>A | CA392448107 | FBN1 | c.247C>T (p.Pro83Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48613010G>C | CA392448108 | FBN1 | c.247C>G (p.Pro83Ala) | |
15 | g.48613010G= | CA2175574451 | FBN1 | c.247C= (p.Pro83=) | |
15 | g.48613010G>T | CA392448112 | FBN1 | c.247C>A (p.Pro83Thr) | gnomAD v4 |
15 | g.48613011G>A | CA490090260 | FBN1 | c.246C>T (p.Val82=) | gnomAD v4 |
15 | g.48613011G>C | CA490090261 | FBN1 | c.246C>G (p.Val82=) | ClinVar |
15 | g.48613011G>T | CA490090262 | FBN1 | c.246C>A (p.Val82=) | COSMIC |
15 | g.48613012A>C | CA392448115 | FBN1 | c.245T>G (p.Val82Gly) | |
15 | g.48613012A>G | CA392448117 | FBN1 | c.245T>C (p.Val82Ala) | |
15 | g.48613012A>T | CA392448122 | FBN1 | c.245T>A (p.Val82Asp) | |
15 | g.48613013C>A | CA392448140 | FBN1 | c.244G>T (p.Val82Phe) | gnomAD v4 |
15 | g.48613013C= | CA2175574452 | FBN1 | c.244G= (p.Val82=) | |
15 | g.48613013C>G | CA392448137 | FBN1 | c.244G>C (p.Val82Leu) | |
15 | g.48613013C>T | CA270060787 | FBN1 | c.244G>A (p.Val82Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48613014A= | CA2175574453 | FBN1 | c.243T= (p.Ile81=) | |
15 | g.48613014A>C | CA392448144 | FBN1 | c.243T>G (p.Ile81Met) | |
15 | g.48613014A>G | CA490090264 | FBN1 | c.243T>C (p.Ile81=) | dbSNP |
15 | g.48613014A>T | CA490090265 | FBN1 | c.243T>A (p.Ile81=) | ClinVar dbSNP gnomAD v4 |
15 | g.48613015A>C | CA392448148 | FBN1 | c.242T>G (p.Ile81Ser) | |
15 | g.48613015A>G | CA392448151 | FBN1 | c.242T>C (p.Ile81Thr) | |
15 | g.48613015A>T | CA392448154 | FBN1 | c.242T>A (p.Ile81Asn) | |
15 | g.48613016T>A | CA392448157 | FBN1 | c.241A>T (p.Ile81Phe) | |
15 | g.48613016T>C | CA392448159 | FBN1 | c.241A>G (p.Ile81Val) |