UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437255_48437257del | CA2530155981 | FBN1 | c.6379+67_6379+69del (n.6379+67_6379+69del) c.1378+67_1378+69del (n.1378+67_1378+69del) c.*2142+67_*2142+69del (n.*2142+67_*2142+69del) c.1686+67_1686+69del | gnomAD v4 |
| 15 | g.48437257A= | CA2175502873 | FBN1 | c.6379+65T= (n.6379+65T=) c.1378+65T= (n.1378+65T=) c.*2142+65T= (n.*2142+65T=) c.1686+65T= | |
| 15 | g.48437257A>G | CA969547224 | FBN1 | c.6379+65T>C (n.6379+65T>C) c.1378+65T>C (n.1378+65T>C) c.*2142+65T>C (n.*2142+65T>C) c.1686+65T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437257_48437261delinsATAAC | CA2175502870 | FBN1 | c.6379+61_6379+65delinsGTTAT (n.6379+61_6379+65delinsGTTAT) c.1378+61_1378+65delinsGTTAT (n.1378+61_1378+65delinsGTTAT) c.*2142+61_*2142+65delinsGTTAT (n.*2142+61_*2142+65delinsGTTAT) c.1686+61_1686+65delinsGTTAT | |
| 15 | g.48437260_48437263del | CA713398391 | FBN1 | c.6379+61_6379+64del (n.6379+61_6379+64del) c.1378+61_1378+64del (n.1378+61_1378+64del) c.*2142+61_*2142+64del (n.*2142+61_*2142+64del) c.1686+61_1686+64del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437260A>T | CA2628333372 | FBN1 | c.6379+62T>A (n.6379+62T>A) c.1378+62T>A (n.1378+62T>A) c.*2142+62T>A (n.*2142+62T>A) c.1686+62T>A | gnomAD v4 |
| 15 | g.48437263_48437266delinsAGAG | CA2175502879 | FBN1 | c.6379+56_6379+59delinsCTCT (n.6379+56_6379+59delinsCTCT) c.1378+56_1378+59delinsCTCT (n.1378+56_1378+59delinsCTCT) c.*2142+56_*2142+59delinsCTCT (n.*2142+56_*2142+59delinsCTCT) c.1686+56_1686+59delinsCTCT | |
| 15 | g.48437264G>C | CA2575716938 | FBN1 | c.6379+58C>G (n.6379+58C>G) c.1378+58C>G (n.1378+58C>G) c.*2142+58C>G (n.*2142+58C>G) c.1686+58C>G | |
| 15 | g.48437264_48437266del | CA713398402 | FBN1 | c.6379+56_6379+58del (n.6379+56_6379+58del) c.1378+56_1378+58del (n.1378+56_1378+58del) c.*2142+56_*2142+58del (n.*2142+56_*2142+58del) c.1686+56_1686+58del | dbSNP gnomAD v4 |
| 15 | g.48437265A= | CA2175502881 | FBN1 | c.6379+57T= (n.6379+57T=) c.1378+57T= (n.1378+57T=) c.*2142+57T= (n.*2142+57T=) c.1686+57T= | |
| 15 | g.48437265A>C | CA713398404 | FBN1 | c.6379+57T>G (n.6379+57T>G) c.1378+57T>G (n.1378+57T>G) c.*2142+57T>G (n.*2142+57T>G) c.1686+57T>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437266G>A | CA2175502884 | FBN1 | c.6379+56C>T (n.6379+56C>T) c.1378+56C>T (n.1378+56C>T) c.*2142+56C>T (n.*2142+56C>T) c.1686+56C>T | dbSNP |
| 15 | g.48437266G= | CA2175502882 | FBN1 | c.6379+56C= (n.6379+56C=) c.1378+56C= (n.1378+56C=) c.*2142+56C= (n.*2142+56C=) c.1686+56C= | |
| 15 | g.48437266G>T | CA2628333373 | FBN1 | c.6379+56C>A (n.6379+56C>A) c.1378+56C>A (n.1378+56C>A) c.*2142+56C>A (n.*2142+56C>A) c.1686+56C>A | gnomAD v4 |
| 15 | g.48437268A>T | CA2575716939 | FBN1 | c.6379+54T>A (n.6379+54T>A) c.1378+54T>A (n.1378+54T>A) c.*2142+54T>A (n.*2142+54T>A) c.1686+54T>A | |
| 15 | g.48437270A>C | CA2628333374 | FBN1 | c.6379+52T>G (n.6379+52T>G) c.1378+52T>G (n.1378+52T>G) c.*2142+52T>G (n.*2142+52T>G) c.1686+52T>G | gnomAD v4 |
| 15 | g.48437272G>A | CA2628333375 | FBN1 | c.6379+50C>T (n.6379+50C>T) c.1378+50C>T (n.1378+50C>T) c.*2142+50C>T (n.*2142+50C>T) c.1686+50C>T | gnomAD v4 |
| 15 | g.48437272G>T | CA2628333376 | FBN1 | c.6379+50C>A (n.6379+50C>A) c.1378+50C>A (n.1378+50C>A) c.*2142+50C>A (n.*2142+50C>A) c.1686+50C>A | gnomAD v4 |
| 15 | g.48437273C>T | CA2628333377 | FBN1 | c.6379+49G>A (n.6379+49G>A) c.1378+49G>A (n.1378+49G>A) c.*2142+49G>A (n.*2142+49G>A) c.1686+49G>A | gnomAD v4 |
| 15 | g.48437275G>A | CA056661 | FBN1 | c.6379+47C>T (n.6379+47C>T) c.1378+47C>T (n.1378+47C>T) c.*2142+47C>T (n.*2142+47C>T) c.1686+47C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437275G>C | CA969547228 | FBN1 | c.6379+47C>G (n.6379+47C>G) c.1378+47C>G (n.1378+47C>G) c.*2142+47C>G (n.*2142+47C>G) c.1686+47C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437275G= | CA2175502886 | FBN1 | c.6379+47C= (n.6379+47C=) c.1378+47C= (n.1378+47C=) c.*2142+47C= (n.*2142+47C=) c.1686+47C= | |
| 15 | g.48437275G>T | CA2575716940 | FBN1 | c.6379+47C>A (n.6379+47C>A) c.1378+47C>A (n.1378+47C>A) c.*2142+47C>A (n.*2142+47C>A) c.1686+47C>A | gnomAD v4 |
| 15 | g.48437275_48437276delinsGA | CA2175502889 | FBN1 | c.6379+46_6379+47delinsTC (n.6379+46_6379+47delinsTC) c.1378+46_1378+47delinsTC (n.1378+46_1378+47delinsTC) c.*2142+46_*2142+47delinsTC (n.*2142+46_*2142+47delinsTC) c.1686+46_1686+47delinsTC | |
| 15 | g.48437276del | CA2175502892 | FBN1 | c.6379+46del (n.6379+46del) c.1378+46del (n.1378+46del) c.*2142+46del (n.*2142+46del) c.1686+46del | dbSNP |
| 15 | g.48437278T>C | CA269526420 | FBN1 | c.6379+44A>G (n.6379+44A>G) c.1378+44A>G (n.1378+44A>G) c.*2142+44A>G (n.*2142+44A>G) c.1686+44A>G | dbSNP |
| 15 | g.48437278T>G | CA2628333378 | FBN1 | c.6379+44A>C (n.6379+44A>C) c.1378+44A>C (n.1378+44A>C) c.*2142+44A>C (n.*2142+44A>C) c.1686+44A>C | gnomAD v4 |
| 15 | g.48437278T= | CA2175502896 | FBN1 | c.6379+44A= (n.6379+44A=) c.1378+44A= (n.1378+44A=) c.*2142+44A= (n.*2142+44A=) c.1686+44A= | |
| 15 | g.48437279G>T | CA2628333379 | FBN1 | c.6379+43C>A (n.6379+43C>A) c.1378+43C>A (n.1378+43C>A) c.*2142+43C>A (n.*2142+43C>A) c.1686+43C>A | gnomAD v4 |
| 15 | g.48437280A>G | CA2628333381 | FBN1 | c.6379+42T>C (n.6379+42T>C) c.1378+42T>C (n.1378+42T>C) c.*2142+42T>C (n.*2142+42T>C) c.1686+42T>C | gnomAD v4 |
| 15 | g.48437280A>T | CA2628333382 | FBN1 | c.6379+42T>A (n.6379+42T>A) c.1378+42T>A (n.1378+42T>A) c.*2142+42T>A (n.*2142+42T>A) c.1686+42T>A | gnomAD v4 |
| 15 | g.48437281G>A | CA2628333383 | FBN1 | c.6379+41C>T (n.6379+41C>T) c.1378+41C>T (n.1378+41C>T) c.*2142+41C>T (n.*2142+41C>T) c.1686+41C>T | gnomAD v4 |
| 15 | g.48437281G>T | CA2628333384 | FBN1 | c.6379+41C>A (n.6379+41C>A) c.1378+41C>A (n.1378+41C>A) c.*2142+41C>A (n.*2142+41C>A) c.1686+41C>A | gnomAD v4 |
| 15 | g.48437284T>C | CA2628333385 | FBN1 | c.6379+38A>G (n.6379+38A>G) c.1378+38A>G (n.1378+38A>G) c.*2142+38A>G (n.*2142+38A>G) c.1686+38A>G | gnomAD v4 |
| 15 | g.48437285A>G | CA2628333388 | FBN1 | c.6379+37T>C (n.6379+37T>C) c.1378+37T>C (n.1378+37T>C) c.*2142+37T>C (n.*2142+37T>C) c.1686+37T>C | gnomAD v4 |
| 15 | g.48437293_48437302dup | CA2804071000 | FBN1 | c.6379+27_6379+36dup (n.6379+27_6379+36dup) c.1378+27_1378+36dup (n.1378+27_1378+36dup) c.*2142+27_*2142+36dup (n.*2142+27_*2142+36dup) c.1686+27_1686+36dup | |
| 15 | g.48437287T>C | CA2628333389 | FBN1 | c.6379+35A>G (n.6379+35A>G) c.1378+35A>G (n.1378+35A>G) c.*2142+35A>G (n.*2142+35A>G) c.1686+35A>G | gnomAD v4 |
| 15 | g.48437288G>T | CA2628333391 | FBN1 | c.6379+34C>A (n.6379+34C>A) c.1378+34C>A (n.1378+34C>A) c.*2142+34C>A (n.*2142+34C>A) c.1686+34C>A | gnomAD v4 |
| 15 | g.48437290G>A | CA056656 | FBN1 | c.6379+32C>T (n.6379+32C>T) c.1378+32C>T (n.1378+32C>T) c.*2142+32C>T (n.*2142+32C>T) c.1686+32C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437290G= | CA2175502900 | FBN1 | c.6379+32C= (n.6379+32C=) c.1378+32C= (n.1378+32C=) c.*2142+32C= (n.*2142+32C=) c.1686+32C= | |
| 15 | g.48437290G>T | CA2575716941 | FBN1 | c.6379+32C>A (n.6379+32C>A) c.1378+32C>A (n.1378+32C>A) c.*2142+32C>A (n.*2142+32C>A) c.1686+32C>A | gnomAD v4 |
| 15 | g.48437293del | CA2575716942 | FBN1 | c.6379+31del (n.6379+31del) c.1378+31del (n.1378+31del) c.*2142+31del (n.*2142+31del) c.1686+31del | |
| 15 | g.48437295G>A | CA617835704 | FBN1 | c.6379+27C>T (n.6379+27C>T) c.1378+27C>T (n.1378+27C>T) c.*2142+27C>T (n.*2142+27C>T) c.1686+27C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437295G= | CA2175502903 | FBN1 | c.6379+27C= (n.6379+27C=) c.1378+27C= (n.1378+27C=) c.*2142+27C= (n.*2142+27C=) c.1686+27C= | |
| 15 | g.48437295G>T | CA2575716943 | FBN1 | c.6379+27C>A (n.6379+27C>A) c.1378+27C>A (n.1378+27C>A) c.*2142+27C>A (n.*2142+27C>A) c.1686+27C>A | gnomAD v4 |
| 15 | g.48437297T>G | CA2628333399 | FBN1 | c.6379+25A>C (n.6379+25A>C) c.1378+25A>C (n.1378+25A>C) c.*2142+25A>C (n.*2142+25A>C) c.1686+25A>C | gnomAD v4 |
| 15 | g.48437298G>C | CA617835705 | FBN1 | c.6379+24C>G (n.6379+24C>G) c.1378+24C>G (n.1378+24C>G) c.*2142+24C>G (n.*2142+24C>G) c.1686+24C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437298G= | CA2175502906 | FBN1 | c.6379+24C= (n.6379+24C=) c.1378+24C= (n.1378+24C=) c.*2142+24C= (n.*2142+24C=) c.1686+24C= | |
| 15 | g.48437299A>G | CA2628333400 | FBN1 | c.6379+23T>C (n.6379+23T>C) c.1378+23T>C (n.1378+23T>C) c.*2142+23T>C (n.*2142+23T>C) c.1686+23T>C | gnomAD v4 |
| 15 | g.48437301A>C | CA2628333401 | FBN1 | c.6379+21T>G (n.6379+21T>G) c.1378+21T>G (n.1378+21T>G) c.*2142+21T>G (n.*2142+21T>G) c.1686+21T>G | gnomAD v4 |
| 15 | g.48437303T>C | CA713398415 | FBN1 | c.6379+19A>G (n.6379+19A>G) c.1378+19A>G (n.1378+19A>G) c.*2142+19A>G (n.*2142+19A>G) c.1686+19A>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437303T= | CA2175502910 | FBN1 | c.6379+19A= (n.6379+19A=) c.1378+19A= (n.1378+19A=) c.*2142+19A= (n.*2142+19A=) c.1686+19A= | |
| 15 | g.48437304C>A | CA969547238 | FBN1 | c.6379+18G>T (n.6379+18G>T) c.1378+18G>T (n.1378+18G>T) c.*2142+18G>T (n.*2142+18G>T) c.1686+18G>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437304C= | CA2175502914 | FBN1 | c.6379+18G= (n.6379+18G=) c.1378+18G= (n.1378+18G=) c.*2142+18G= (n.*2142+18G=) c.1686+18G= | |
| 15 | g.48437305C>A | CA2740096621 | FBN1 | c.6379+17G>T (n.6379+17G>T) c.1378+17G>T (n.1378+17G>T) c.*2142+17G>T (n.*2142+17G>T) c.1686+17G>T | ClinVar |
| 15 | g.48437305C= | CA2175502917 | FBN1 | c.6379+17G= (n.6379+17G=) c.1378+17G= (n.1378+17G=) c.*2142+17G= (n.*2142+17G=) c.1686+17G= | |
| 15 | g.48437305C>T | CA713398416 | FBN1 | c.6379+17G>A (n.6379+17G>A) c.1378+17G>A (n.1378+17G>A) c.*2142+17G>A (n.*2142+17G>A) c.1686+17G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437306A>C | CA2628333402 | FBN1 | c.6379+16T>G (n.6379+16T>G) c.1378+16T>G (n.1378+16T>G) c.*2142+16T>G (n.*2142+16T>G) c.1686+16T>G | ClinVar gnomAD v4 |
| 15 | g.48437307G>C | CA2628333403 | FBN1 | c.6379+15C>G (n.6379+15C>G) c.1378+15C>G (n.1378+15C>G) c.*2142+15C>G (n.*2142+15C>G) c.1686+15C>G | gnomAD v4 |
| 15 | g.48437307G>T | CA2628333404 | FBN1 | c.6379+15C>A (n.6379+15C>A) c.1378+15C>A (n.1378+15C>A) c.*2142+15C>A (n.*2142+15C>A) c.1686+15C>A | gnomAD v4 |
| 15 | g.48437308C>A | CA2730864079 | FBN1 | c.6379+14G>T (n.6379+14G>T) c.1378+14G>T (n.1378+14G>T) c.*2142+14G>T (n.*2142+14G>T) c.1686+14G>T | dbSNP |
| 15 | g.48437310C>G | CA2628333405 | FBN1 | c.6379+12G>C (n.6379+12G>C) c.1378+12G>C (n.1378+12G>C) c.*2142+12G>C (n.*2142+12G>C) c.1686+12G>C | gnomAD v4 |
| 15 | g.48437310C>T | CA2628333406 | FBN1 | c.6379+12G>A (n.6379+12G>A) c.1378+12G>A (n.1378+12G>A) c.*2142+12G>A (n.*2142+12G>A) c.1686+12G>A | gnomAD v4 |
| 15 | g.48437311A= | CA2175502926 | FBN1 | c.6379+11T= (n.6379+11T=) c.1378+11T= (n.1378+11T=) c.*2142+11T= (n.*2142+11T=) c.1686+11T= | |
| 15 | g.48437311A>G | CA056647 | FBN1 | c.6379+11T>C (n.6379+11T>C) c.1378+11T>C (n.1378+11T>C) c.*2142+11T>C (n.*2142+11T>C) c.1686+11T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437311A>T | CA2740096622 | FBN1 | c.6379+11T>A (n.6379+11T>A) c.1378+11T>A (n.1378+11T>A) c.*2142+11T>A (n.*2142+11T>A) c.1686+11T>A | ClinVar |
| 15 | g.48437312G>T | CA2628333409 | FBN1 | c.6379+10C>A (n.6379+10C>A) c.1378+10C>A (n.1378+10C>A) c.*2142+10C>A (n.*2142+10C>A) c.1686+10C>A | gnomAD v4 |
| 15 | g.48437313G>A | CA658683886 | FBN1 | c.6379+9C>T (n.6379+9C>T) c.1378+9C>T (n.1378+9C>T) c.*2142+9C>T (n.*2142+9C>T) c.1686+9C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437313G= | CA2175502928 | FBN1 | c.6379+9C= (n.6379+9C=) c.1378+9C= (n.1378+9C=) c.*2142+9C= (n.*2142+9C=) c.1686+9C= | |
| 15 | g.48437320_48437327del | CA2695220269 | FBN1 | c.6379+1_6379+8del c.1378+1_1378+8del c.*2142+1_*2142+8del c.1686+1_1686+8del | |
| 15 | g.48437316A>C | CA2695220270 | FBN1 | c.6379+6T>G (n.6379+6T>G) c.1378+6T>G (n.1378+6T>G) c.*2142+6T>G (n.*2142+6T>G) c.1686+6T>G | |
| 15 | g.48437317C>A | CA2580089558 | FBN1 | c.6379+5G>T (n.6379+5G>T) c.1378+5G>T (n.1378+5G>T) c.*2142+5G>T (n.*2142+5G>T) c.1686+5G>T | ClinVar |
| 15 | g.48437317C= | CA2175502930 | FBN1 | c.6379+5G= (n.6379+5G=) c.1378+5G= (n.1378+5G=) c.*2142+5G= (n.*2142+5G=) c.1686+5G= | |
| 15 | g.48437317C>G | CA645294079 | FBN1 | c.6379+5G>C (n.6379+5G>C) c.1378+5G>C (n.1378+5G>C) c.*2142+5G>C (n.*2142+5G>C) c.1686+5G>C | ClinVar dbSNP |
| 15 | g.48437317C>T | CA2573150931 | FBN1 | c.6379+5G>A (n.6379+5G>A) c.1378+5G>A (n.1378+5G>A) c.*2142+5G>A (n.*2142+5G>A) c.1686+5G>A | ClinVar dbSNP |
| 15 | g.48437318T>C | CA056671 | FBN1 | c.6379+4A>G (n.6379+4A>G) c.1378+4A>G (n.1378+4A>G) c.*2142+4A>G (n.*2142+4A>G) c.1686+4A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437318T= | CA2175502934 | FBN1 | c.6379+4A= (n.6379+4A=) c.1378+4A= (n.1378+4A=) c.*2142+4A= (n.*2142+4A=) c.1686+4A= | |
| 15 | g.48437319G>C | CA916082411 | FBN1 | c.6379+3C>G (n.6379+3C>G) c.1378+3C>G (n.1378+3C>G) c.*2142+3C>G (n.*2142+3C>G) c.1686+3C>G | ClinVar dbSNP |
| 15 | g.48437319G= | CA2175502938 | FBN1 | c.6379+3C= (n.6379+3C=) c.1378+3C= (n.1378+3C=) c.*2142+3C= (n.*2142+3C=) c.1686+3C= | |
| 15 | g.48437319G>T | CA2628333415 | FBN1 | c.6379+3C>A (n.6379+3C>A) c.1378+3C>A (n.1378+3C>A) c.*2142+3C>A (n.*2142+3C>A) c.1686+3C>A | gnomAD v4 |
| 15 | g.48437320A= | CA2175502946 | FBN1 | c.6379+2T= (n.6379+2T=) c.1378+2T= (n.1378+2T=) c.*2142+2T= (n.*2142+2T=) c.1686+2T= | |
| 15 | g.48437320A>C | CA392336728 | FBN1 | c.6379+2T>G (n.6379+2T>G) c.1378+2T>G (n.1378+2T>G) c.*2142+2T>G (n.*2142+2T>G) c.1686+2T>G | ClinVar dbSNP |
| 15 | g.48437320A>G | CA16606697 | FBN1 | c.6379+2T>C (n.6379+2T>C) c.1378+2T>C (n.1378+2T>C) c.*2142+2T>C (n.*2142+2T>C) c.1686+2T>C | ClinVar dbSNP |
| 15 | g.48437320A>T | CA392336729 | FBN1 | c.6379+2T>A (n.6379+2T>A) c.1378+2T>A (n.1378+2T>A) c.*2142+2T>A (n.*2142+2T>A) c.1686+2T>A | |
| 15 | g.48437321C>A | CA392336730 | FBN1 | c.6379+1G>T (n.6379+1G>T) c.1378+1G>T (n.1378+1G>T) c.*2142+1G>T (n.*2142+1G>T) c.1686+1G>T | |
| 15 | g.48437321C= | CA2175502955 | FBN1 | c.6379+1G= (n.6379+1G=) c.1378+1G= (n.1378+1G=) c.*2142+1G= (n.*2142+1G=) c.1686+1G= | |
| 15 | g.48437321C>G | CA392336731 | FBN1 | c.6379+1G>C (n.6379+1G>C) c.1378+1G>C (n.1378+1G>C) c.*2142+1G>C (n.*2142+1G>C) c.1686+1G>C | |
| 15 | g.48437321C>T | CA016380 | FBN1 | c.6379+1G>A (n.6379+1G>A) c.1378+1G>A (n.1378+1G>A) c.*2142+1G>A (n.*2142+1G>A) c.1686+1G>A | ClinVar dbSNP |
| 15 | g.48437322del | CA2695220272 | FBN1 | c.6379+1del c.1378+1del c.*2142+1del c.1686+1del | |
| 15 | g.48437321_48437328dup | CA2740096623 | FBN1 | c.6373_6379+1dup c.1372_1378+1dup c.*2136_*2142+1dup c.1680_1686+1dup | ClinVar |
| 15 | g.48437322C>A | CA392336732 | FBN1 | c.6379G>T (p.Asp2127Tyr) c.1378G>T (p.Asp460Tyr) c.*2142G>T (n.*2142G>T) c.1686G>T | |
| 15 | g.48437322C= | CA2175502958 | FBN1 | c.6379G= (p.Asp2127=) c.1378G= (p.Asp460=) c.*2142G= (n.*2142G=) c.1686G= | |
| 15 | g.48437322C>G | CA392336734 | FBN1 | c.6379G>C (p.Asp2127His) c.1378G>C (p.Asp460His) c.*2142G>C (n.*2142G>C) c.1686G>C | ClinVar |
| 15 | g.48437322C>T | CA392336733 | FBN1 | c.6379G>A (p.Asp2127Asn) c.1378G>A (p.Asp460Asn) c.*2142G>A (n.*2142G>A) c.1686G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437323A>C | CA490019247 | FBN1 | c.6378T>G (p.Val2126=) c.1377T>G (p.Val459=) c.*2141T>G (n.*2141T>G) c.1685T>G | |
| 15 | g.48437323A>G | CA490019249 | FBN1 | c.6378T>C (p.Val2126=) c.1377T>C (p.Val459=) c.*2141T>C (n.*2141T>C) c.1685T>C | |
| 15 | g.48437323A>T | CA490019248 | FBN1 | c.6378T>A (p.Val2126=) c.1377T>A (p.Val459=) c.*2141T>A (n.*2141T>A) c.1685T>A | |
| 15 | g.48437324A>C | CA392336735 | FBN1 | c.6377T>G (p.Val2126Gly) c.1376T>G (p.Val459Gly) c.*2140T>G (n.*2140T>G) c.1684T>G | |
| 15 | g.48437324A>G | CA392336736 | FBN1 | c.6377T>C (p.Val2126Ala) c.1376T>C (p.Val459Ala) c.*2140T>C (n.*2140T>C) c.1684T>C | |
| 15 | g.48437324A>T | CA392336737 | FBN1 | c.6377T>A (p.Val2126Asp) c.1376T>A (p.Val459Asp) c.*2140T>A (n.*2140T>A) c.1684T>A | |
| 15 | g.48437325C>A | CA392336738 | FBN1 | c.6376G>T (p.Val2126Phe) c.1375G>T (p.Val459Phe) c.*2139G>T (n.*2139G>T) c.1683G>T | |
| 15 | g.48437325C= | CA2175502966 | FBN1 | c.6376G= (p.Val2126=) c.1375G= (p.Val459=) c.*2139G= (n.*2139G=) c.1683G= | |
| 15 | g.48437325C>G | CA392336739 | FBN1 | c.6376G>C (p.Val2126Leu) c.1375G>C (p.Val459Leu) c.*2139G>C (n.*2139G>C) c.1683G>C | |
| 15 | g.48437325C>T | CA392336740 | FBN1 | c.6376G>A (p.Val2126Ile) c.1375G>A (p.Val459Ile) c.*2139G>A (n.*2139G>A) c.1683G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437326T>A | CA490019250 | FBN1 | c.6375A>T (p.Ala2125=) c.1374A>T (p.Ala458=) c.*2138A>T (n.*2138A>T) c.1682A>T | |
| 15 | g.48437326T>C | CA490019251 | FBN1 | c.6375A>G (p.Ala2125=) c.1374A>G (p.Ala458=) c.*2138A>G (n.*2138A>G) c.1682A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437326T>G | CA490019252 | FBN1 | c.6375A>C (p.Ala2125=) c.1374A>C (p.Ala458=) c.*2138A>C (n.*2138A>C) c.1682A>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437327G>A | CA392336741 | FBN1 | c.6374C>T (p.Ala2125Val) c.1373C>T (p.Ala458Val) c.*2137C>T (n.*2137C>T) c.1681C>T | gnomAD v4 |
| 15 | g.48437327G>C | CA392336742 | FBN1 | c.6374C>G (p.Ala2125Gly) c.1373C>G (p.Ala458Gly) c.*2137C>G (n.*2137C>G) c.1681C>G | |
| 15 | g.48437327G>T | CA392336743 | FBN1 | c.6374C>A (p.Ala2125Glu) c.1373C>A (p.Ala458Glu) c.*2137C>A (n.*2137C>A) c.1681C>A | |
| 15 | g.48437328C>A | CA392336744 | FBN1 | c.6373G>T (p.Ala2125Ser) c.1372G>T (p.Ala458Ser) c.*2136G>T (n.*2136G>T) c.1680G>T | |
| 15 | g.48437328C>G | CA392336745 | FBN1 | c.6373G>C (p.Ala2125Pro) c.1372G>C (p.Ala458Pro) c.*2136G>C (n.*2136G>C) c.1680G>C | |
| 15 | g.48437328C>T | CA392336746 | FBN1 | c.6373G>A (p.Ala2125Thr) c.1372G>A (p.Ala458Thr) c.*2136G>A (n.*2136G>A) c.1680G>A | gnomAD v4 |
| 15 | g.48437329T>A | CA490019253 | FBN1 | c.6372A>T (p.Ser2124=) c.1371A>T (p.Ser457=) c.*2135A>T (n.*2135A>T) c.1679A>T | |
| 15 | g.48437329T>C | CA016370 | FBN1 | c.6372A>G (p.Ser2124=) c.1371A>G (p.Ser457=) c.*2135A>G (n.*2135A>G) c.1679A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437329T>G | CA056640 | FBN1 | c.6372A>C (p.Ser2124=) c.1371A>C (p.Ser457=) c.*2135A>C (n.*2135A>C) c.1679A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48437329T= | CA2175502977 | FBN1 | c.6372A= (p.Ser2124=) c.1371A= (p.Ser457=) c.*2135A= (n.*2135A=) c.1679A= | |
| 15 | g.48437330G>A | CA392336747 | FBN1 | c.6371C>T (p.Ser2124Leu) c.1370C>T (p.Ser457Leu) c.*2134C>T (n.*2134C>T) c.1678C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48437330G>C | CA392336748 | FBN1 | c.6371C>G (p.Ser2124Ter) c.1370C>G (p.Ser457Ter) c.*2134C>G (n.*2134C>G) c.1678C>G | ClinVar dbSNP |
| 15 | g.48437330G= | CA2175502983 | FBN1 | c.6371C= (p.Ser2124=) c.1370C= (p.Ser457=) c.*2134C= (n.*2134C=) c.1678C= | |
| 15 | g.48437330G>T | CA392336749 | FBN1 | c.6371C>A (p.Ser2124Ter) c.1370C>A (p.Ser457Ter) c.*2134C>A (n.*2134C>A) c.1678C>A | |
| 15 | g.48437331A>C | CA392336750 | FBN1 | c.6370T>G (p.Ser2124Ala) c.1369T>G (p.Ser457Ala) c.*2133T>G (n.*2133T>G) c.1677T>G | |
| 15 | g.48437331A>G | CA392336751 | FBN1 | c.6370T>C (p.Ser2124Pro) c.1369T>C (p.Ser457Pro) c.*2133T>C (n.*2133T>C) c.1677T>C | ClinVar |
| 15 | g.48437331A>T | CA392336752 | FBN1 | c.6370T>A (p.Ser2124Thr) c.1369T>A (p.Ser457Thr) c.*2133T>A (n.*2133T>A) c.1677T>A | |
| 15 | g.48437332A>C | CA392336753 | FBN1 | c.6369T>G (p.Asp2123Glu) c.1368T>G (p.Asp456Glu) c.*2132T>G (n.*2132T>G) c.1676T>G | |
| 15 | g.48437332A>G | CA490019254 | FBN1 | c.6369T>C (p.Asp2123=) c.1368T>C (p.Asp456=) c.*2132T>C (n.*2132T>C) c.1676T>C | |
| 15 | g.48437332A>T | CA392336754 | FBN1 | c.6369T>A (p.Asp2123Glu) c.1368T>A (p.Asp456Glu) c.*2132T>A (n.*2132T>A) c.1676T>A | |
| 15 | g.48437333T>A | CA392336755 | FBN1 | c.6368A>T (p.Asp2123Val) c.1367A>T (p.Asp456Val) c.*2131A>T (n.*2131A>T) c.1675A>T | ClinVar |
| 15 | g.48437333T>C | CA392336756 | FBN1 | c.6368A>G (p.Asp2123Gly) c.1367A>G (p.Asp456Gly) c.*2131A>G (n.*2131A>G) c.1675A>G | |
| 15 | g.48437333T>G | CA392336757 | FBN1 | c.6368A>C (p.Asp2123Ala) c.1367A>C (p.Asp456Ala) c.*2131A>C (n.*2131A>C) c.1675A>C | |
| 15 | g.48437334C>A | CA392336758 | FBN1 | c.6367G>T (p.Asp2123Tyr) c.1366G>T (p.Asp456Tyr) c.*2130G>T (n.*2130G>T) c.1674G>T | |
| 15 | g.48437334C>G | CA392336759 | FBN1 | c.6367G>C (p.Asp2123His) c.1366G>C (p.Asp456His) c.*2130G>C (n.*2130G>C) c.1674G>C | |
| 15 | g.48437334C>T | CA392336760 | FBN1 | c.6367G>A (p.Asp2123Asn) c.1366G>A (p.Asp456Asn) c.*2130G>A (n.*2130G>A) c.1674G>A | |
| 15 | g.48437335A= | CA2175502986 | FBN1 | c.6366T= (p.Asp2122=) c.1365T= (p.Asp455=) c.*2129T= (n.*2129T=) c.1673T= | |
| 15 | g.48437335A>C | CA392336761 | FBN1 | c.6366T>G (p.Asp2122Glu) c.1365T>G (p.Asp455Glu) c.*2129T>G (n.*2129T>G) c.1673T>G | gnomAD v4 |
| 15 | g.48437335A>G | CA490019255 | FBN1 | c.6366T>C (p.Asp2122=) c.1365T>C (p.Asp455=) c.*2129T>C (n.*2129T>C) c.1673T>C | dbSNP |
| 15 | g.48437335A>T | CA392336762 | FBN1 | c.6366T>A (p.Asp2122Glu) c.1365T>A (p.Asp455Glu) c.*2129T>A (n.*2129T>A) c.1673T>A | |
| 15 | g.48437336T>A | CA392336763 | FBN1 | c.6365A>T (p.Asp2122Val) c.1364A>T (p.Asp455Val) c.*2128A>T (n.*2128A>T) c.1672A>T | |
| 15 | g.48437336T>C | CA392336764 | FBN1 | c.6365A>G (p.Asp2122Gly) c.1364A>G (p.Asp455Gly) c.*2128A>G (n.*2128A>G) c.1672A>G | ClinVar |
| 15 | g.48437336T>G | CA392336765 | FBN1 | c.6365A>C (p.Asp2122Ala) c.1364A>C (p.Asp455Ala) c.*2128A>C (n.*2128A>C) c.1672A>C | |
| 15 | g.48437337C>A | CA392336766 | FBN1 | c.6364G>T (p.Asp2122Tyr) c.1363G>T (p.Asp455Tyr) c.*2127G>T (n.*2127G>T) c.1671G>T | |
| 15 | g.48437337C>G | CA392336767 | FBN1 | c.6364G>C (p.Asp2122His) c.1363G>C (p.Asp455His) c.*2127G>C (n.*2127G>C) c.1671G>C | |
| 15 | g.48437337C>T | CA392336768 | FBN1 | c.6364G>A (p.Asp2122Asn) c.1363G>A (p.Asp455Asn) c.*2127G>A (n.*2127G>A) c.1671G>A | |
| 15 | g.48437338A>C | CA490019258 | FBN1 | c.6363T>G (p.Pro2121=) c.1362T>G (p.Pro454=) c.*2126T>G (n.*2126T>G) c.1670T>G | |
| 15 | g.48437338A>G | CA490019257 | FBN1 | c.6363T>C (p.Pro2121=) c.1362T>C (p.Pro454=) c.*2126T>C (n.*2126T>C) c.1670T>C | |
| 15 | g.48437338A>T | CA490019256 | FBN1 | c.6363T>A (p.Pro2121=) c.1362T>A (p.Pro454=) c.*2126T>A (n.*2126T>A) c.1670T>A | |
| 15 | g.48437339G>A | CA392336769 | FBN1 | c.6362C>T (p.Pro2121Leu) c.1361C>T (p.Pro454Leu) c.*2125C>T (n.*2125C>T) c.1669C>T | |
| 15 | g.48437339G>C | CA392336770 | FBN1 | c.6362C>G (p.Pro2121Arg) c.1361C>G (p.Pro454Arg) c.*2125C>G (n.*2125C>G) c.1669C>G | COSMIC |
| 15 | g.48437339G>T | CA392336771 | FBN1 | c.6362C>A (p.Pro2121His) c.1361C>A (p.Pro454His) c.*2125C>A (n.*2125C>A) c.1669C>A | |
| 15 | g.48437340G>A | CA392336772 | FBN1 | c.6361C>T (p.Pro2121Ser) c.1360C>T (p.Pro454Ser) c.*2124C>T (n.*2124C>T) c.1668C>T | |
| 15 | g.48437340G>C | CA392336773 | FBN1 | c.6361C>G (p.Pro2121Ala) c.1360C>G (p.Pro454Ala) c.*2124C>G (n.*2124C>G) c.1668C>G | |
| 15 | g.48437340G>T | CA392336774 | FBN1 | c.6361C>A (p.Pro2121Thr) c.1360C>A (p.Pro454Thr) c.*2124C>A (n.*2124C>A) c.1668C>A | |
| 15 | g.48437341T>A | CA490019259 | FBN1 | c.6360A>T (p.Gly2120=) c.1359A>T (p.Gly453=) c.*2123A>T (n.*2123A>T) c.1667A>T | gnomAD v4 |
| 15 | g.48437341T>C | CA490019260 | FBN1 | c.6360A>G (p.Gly2120=) c.1359A>G (p.Gly453=) c.*2123A>G (n.*2123A>G) c.1667A>G | |
| 15 | g.48437341T>G | CA490019261 | FBN1 | c.6360A>C (p.Gly2120=) c.1359A>C (p.Gly453=) c.*2123A>C (n.*2123A>C) c.1667A>C | |
| 15 | g.48437347_48437357del | CA2573054027 | FBN1 | c.6350_6360del (p.Ile2117ThrfsTer2) c.1349_1359del (p.Ile450ThrfsTer2) c.*2113_*2123del (n.*2113_*2123del) c.1657_1667del | ClinVar dbSNP |
| 15 | g.48437342C>A | CA392336775 | FBN1 | c.6359G>T (p.Gly2120Val) c.1358G>T (p.Gly453Val) c.*2122G>T (n.*2122G>T) c.1666G>T | ClinVar dbSNP |
| 15 | g.48437342C= | CA2175502991 | FBN1 | c.6359G= (p.Gly2120=) c.1358G= (p.Gly453=) c.*2122G= (n.*2122G=) c.1666G= | |
| 15 | g.48437342C>G | CA392336777 | FBN1 | c.6359G>C (p.Gly2120Ala) c.1358G>C (p.Gly453Ala) c.*2122G>C (n.*2122G>C) c.1666G>C | COSMIC |
| 15 | g.48437342C>T | CA392336776 | FBN1 | c.6359G>A (p.Gly2120Glu) c.1358G>A (p.Gly453Glu) c.*2122G>A (n.*2122G>A) c.1666G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437343C>A | CA392336778 | FBN1 | c.6358G>T (p.Gly2120Ter) c.1357G>T (p.Gly453Ter) c.*2121G>T (n.*2121G>T) c.1665G>T | |
| 15 | g.48437343C>G | CA392336780 | FBN1 | c.6358G>C (p.Gly2120Arg) c.1357G>C (p.Gly453Arg) c.*2121G>C (n.*2121G>C) c.1665G>C | |
| 15 | g.48437343C>T | CA392336779 | FBN1 | c.6358G>A (p.Gly2120Arg) c.1357G>A (p.Gly453Arg) c.*2121G>A (n.*2121G>A) c.1665G>A | COSMIC |
| 15 | g.48437344C>A | CA490019263 | FBN1 | c.6357G>T (p.Val2119=) c.1356G>T (p.Val452=) c.*2120G>T (n.*2120G>T) c.1664G>T | |
| 15 | g.48437344C= | CA2175502995 | FBN1 | c.6357G= (p.Val2119=) c.1356G= (p.Val452=) c.*2120G= (n.*2120G=) c.1664G= | |
| 15 | g.48437344C>G | CA10642092 | FBN1 | c.6357G>C (p.Val2119=) c.1356G>C (p.Val452=) c.*2120G>C (n.*2120G>C) c.1664G>C | ClinVar dbSNP |
| 15 | g.48437344C>T | CA490019262 | FBN1 | c.6357G>A (p.Val2119=) c.1356G>A (p.Val452=) c.*2120G>A (n.*2120G>A) c.1664G>A | |
| 15 | g.48437345_48437346dup | CA2695220274 | FBN1 | c.6356_6357dup (p.Gly2120TrpfsTer?) c.1355_1356dup (p.Gly453TrpfsTer?) c.*2119_*2120dup (n.*2119_*2120dup) c.1663_1664dup | |
| 15 | g.48437344_48437345insTTCATTTAGATAGCAATTATATTATTGCATT | CA2525561824 | FBN1 | c.6356_6357insAATGCAATAATATAATTGCTATCTAAATGAA (p.Gly2120MetfsTer3) c.1355_1356insAATGCAATAATATAATTGCTATCTAAATGAA (p.Gly453MetfsTer3) c.*2119_*2120insAATGCAATAATATAATTGCTATCTAAATGAA (n.*2119_*2120insAATGCAATAATATAATTGCTATCTAAATGAA) c.1663_1664insAATGCAATAATATAATTGCTATCTAAATGAA | |
| 15 | g.48437344_48437345insTTCATTTAGATAGCAATTATATTATTGCATTATTAGATAATCTTTTGATTAAACACTGAAATGATCATAATTTATCTTCACGTTTAAAAA | CA2545555191 | FBN1 | c.6356_6357insTTTTTAAACGTGAAGATAAATTATGATCATTTCAGTGTTTAATCAAAAGATTATCTAATAATGCAATAATATAATTGCTATCTAAATGAA (p.Val2120PhefsTer2) c.1355_1356insTTTTTAAACGTGAAGATAAATTATGATCATTTCAGTGTTTAATCAAAAGATTATCTAATAATGCAATAATATAATTGCTATCTAAATGAA (p.Val453PhefsTer2) c.*2119_*2120insTTTTTAAACGTGAAGATAAATTATGATCATTTCAGTGTTTAATCAAAAGATTATCTAATAATGCAATAATATAATTGCTATCTAAATGAA (n.*2119_*2120insTTTTTAAACGTGAAGATAAATTATGATCATTTCAGTGTTTAATCAAAAGATTATCTAATAATGCAATAATATAATTGCTATCTAAATGAA) c.1663_1664insTTTTTAAACGTGAAGATAAATTATGATCATTTCAGTGTTTAATCAAAAGATTATCTAATAATGCAATAATATAATTGCTATCTAAATGAA | |
| 15 | g.48437345A>C | CA392336781 | FBN1 | c.6356T>G (p.Val2119Gly) c.1355T>G (p.Val452Gly) c.*2119T>G (n.*2119T>G) c.1663T>G | |
| 15 | g.48437345A>G | CA392336782 | FBN1 | c.6356T>C (p.Val2119Ala) c.1355T>C (p.Val452Ala) c.*2119T>C (n.*2119T>C) c.1663T>C | |
| 15 | g.48437345A>T | CA392336783 | FBN1 | c.6356T>A (p.Val2119Glu) c.1355T>A (p.Val452Glu) c.*2119T>A (n.*2119T>A) c.1663T>A | |
| 15 | g.48437346C>A | CA392336784 | FBN1 | c.6355G>T (p.Val2119Leu) c.1354G>T (p.Val452Leu) c.*2118G>T (n.*2118G>T) c.1662G>T | |
| 15 | g.48437346C= | CA2175503002 | FBN1 | c.6355G= (p.Val2119=) c.1354G= (p.Val452=) c.*2118G= (n.*2118G=) c.1662G= | |
| 15 | g.48437346C>G | CA392336785 | FBN1 | c.6355G>C (p.Val2119Leu) c.1354G>C (p.Val452Leu) c.*2118G>C (n.*2118G>C) c.1662G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48437346C>T | CA10577512 | FBN1 | c.6355G>A (p.Val2119Met) c.1354G>A (p.Val452Met) c.*2118G>A (n.*2118G>A) c.1662G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437347G>A | CA016359 | FBN1 | c.6354C>T (p.Ile2118=) c.1353C>T (p.Ile451=) c.*2117C>T (n.*2117C>T) c.1661C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437347G>C | CA016350 | FBN1 | c.6354C>G (p.Ile2118Met) c.1353C>G (p.Ile451Met) c.*2117C>G (n.*2117C>G) c.1661C>G | ClinVar dbSNP |
| 15 | g.48437347G= | CA2175503026 | FBN1 | c.6354C= (p.Ile2118=) c.1353C= (p.Ile451=) c.*2117C= (n.*2117C=) c.1661C= | |
| 15 | g.48437347G>T | CA490019264 | FBN1 | c.6354C>A (p.Ile2118=) c.1353C>A (p.Ile451=) c.*2117C>A (n.*2117C>A) c.1661C>A | COSMIC |
| 15 | g.48437348A>C | CA392336786 | FBN1 | c.6353T>G (p.Ile2118Ser) c.1352T>G (p.Ile451Ser) c.*2116T>G (n.*2116T>G) c.1660T>G | |
| 15 | g.48437348A>G | CA392336787 | FBN1 | c.6353T>C (p.Ile2118Thr) c.1352T>C (p.Ile451Thr) c.*2116T>C (n.*2116T>C) c.1660T>C | |
| 15 | g.48437348A>T | CA392336788 | FBN1 | c.6353T>A (p.Ile2118Asn) c.1352T>A (p.Ile451Asn) c.*2116T>A (n.*2116T>A) c.1660T>A | |
| 15 | g.48437349T>A | CA392336791 | FBN1 | c.6352A>T (p.Ile2118Phe) c.1351A>T (p.Ile451Phe) c.*2115A>T (n.*2115A>T) c.1659A>T | |
| 15 | g.48437349T>C | CA392336789 | FBN1 | c.6352A>G (p.Ile2118Val) c.1351A>G (p.Ile451Val) c.*2115A>G (n.*2115A>G) c.1659A>G | gnomAD v4 |
| 15 | g.48437349T>G | CA392336790 | FBN1 | c.6352A>C (p.Ile2118Leu) c.1351A>C (p.Ile451Leu) c.*2115A>C (n.*2115A>C) c.1659A>C | |
| 15 | g.48437350G>A | CA490019267 | FBN1 | c.6351C>T (p.Ile2117=) c.1350C>T (p.Ile450=) c.*2114C>T (n.*2114C>T) c.1658C>T | |
| 15 | g.48437350G>C | CA392336792 | FBN1 | c.6351C>G (p.Ile2117Met) c.1350C>G (p.Ile450Met) c.*2114C>G (n.*2114C>G) c.1658C>G | |
| 15 | g.48437350G>T | CA490019266 | FBN1 | c.6351C>A (p.Ile2117=) c.1350C>A (p.Ile450=) c.*2114C>A (n.*2114C>A) c.1658C>A | |
| 15 | g.48437351A= | CA2175503040 | FBN1 | c.6350T= (p.Ile2117=) c.1349T= (p.Ile450=) c.*2113T= (n.*2113T=) c.1657T= | |
| 15 | g.48437351A>C | CA392336793 | FBN1 | c.6350T>G (p.Ile2117Ser) c.1349T>G (p.Ile450Ser) c.*2113T>G (n.*2113T>G) c.1657T>G | |
| 15 | g.48437351A>G | CA392336794 | FBN1 | c.6350T>C (p.Ile2117Thr) c.1349T>C (p.Ile450Thr) c.*2113T>C (n.*2113T>C) c.1657T>C | |
| 15 | g.48437351A>T | CA056636 | FBN1 | c.6350T>A (p.Ile2117Asn) c.1349T>A (p.Ile450Asn) c.*2113T>A (n.*2113T>A) c.1657T>A | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48437352T>A | CA392336795 | FBN1 | c.6349A>T (p.Ile2117Phe) c.1348A>T (p.Ile450Phe) c.*2112A>T (n.*2112A>T) c.1656A>T | |
| 15 | g.48437352T>C | CA056628 | FBN1 | c.6349A>G (p.Ile2117Val) c.1348A>G (p.Ile450Val) c.*2112A>G (n.*2112A>G) c.1656A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437352T>G | CA392336796 | FBN1 | c.6349A>C (p.Ile2117Leu) c.1348A>C (p.Ile450Leu) c.*2112A>C (n.*2112A>C) c.1656A>C | |
| 15 | g.48437352T= | CA2175503060 | FBN1 | c.6349A= (p.Ile2117=) c.1348A= (p.Ile450=) c.*2112A= (n.*2112A=) c.1656A= | |
| 15 | g.48437353C>A | CA490019268 | FBN1 | c.6348G>T (p.Gly2116=) c.1347G>T (p.Gly449=) c.*2111G>T (n.*2111G>T) c.1655G>T | |
| 15 | g.48437353C>G | CA490019269 | FBN1 | c.6348G>C (p.Gly2116=) c.1347G>C (p.Gly449=) c.*2111G>C (n.*2111G>C) c.1655G>C | |
| 15 | g.48437353C>T | CA490019270 | FBN1 | c.6348G>A (p.Gly2116=) c.1347G>A (p.Gly449=) c.*2111G>A (n.*2111G>A) c.1655G>A | ClinVar gnomAD v4 |
| 15 | g.48437354C>A | CA392336797 | FBN1 | c.6347G>T (p.Gly2116Val) c.1346G>T (p.Gly449Val) c.*2110G>T (n.*2110G>T) c.1654G>T | |
| 15 | g.48437354C= | CA2175503076 | FBN1 | c.6347G= (p.Gly2116=) c.1346G= (p.Gly449=) c.*2110G= (n.*2110G=) c.1654G= | |
| 15 | g.48437354C>G | CA392336798 | FBN1 | c.6347G>C (p.Gly2116Ala) c.1346G>C (p.Gly449Ala) c.*2110G>C (n.*2110G>C) c.1654G>C | ClinVar dbSNP |
| 15 | g.48437354C>T | CA392336799 | FBN1 | c.6347G>A (p.Gly2116Glu) c.1346G>A (p.Gly449Glu) c.*2110G>A (n.*2110G>A) c.1654G>A | ClinVar dbSNP |
| 15 | g.48437354_48437355delinsAA | CA645373005 | FBN1 | c.6346_6347delinsTT (p.Gly2116Leu) c.1345_1346delinsTT (p.Gly449Leu) c.*2109_*2110delinsTT (n.*2109_*2110delinsTT) c.1653_1654delinsTT | ClinVar dbSNP |
| 15 | g.48437354_48437355delinsCC | CA2175503081 | FBN1 | c.6346_6347delinsGG (p.Gly2116=) c.1345_1346delinsGG (p.Gly449=) c.*2109_*2110delinsGG (n.*2109_*2110delinsGG) c.1653_1654delinsGG | |
| 15 | g.48437357_48437362del | CA2695220277 | FBN1 | c.6342_6347del (p.Ser2115_Gly2116del) c.1341_1346del (p.Ser448_Gly449del) c.*2105_*2110del (n.*2105_*2110del) c.1649_1654del | |
| 15 | g.48437355C>A | CA392336802 | FBN1 | c.6346G>T (p.Gly2116Trp) c.1345G>T (p.Gly449Trp) c.*2109G>T (n.*2109G>T) c.1653G>T | |
| 15 | g.48437355C>G | CA392336801 | FBN1 | c.6346G>C (p.Gly2116Arg) c.1345G>C (p.Gly449Arg) c.*2109G>C (n.*2109G>C) c.1653G>C | |
| 15 | g.48437355C>T | CA392336800 | FBN1 | c.6346G>A (p.Gly2116Arg) c.1345G>A (p.Gly449Arg) c.*2109G>A (n.*2109G>A) c.1653G>A | |
| 15 | g.48437356A>C | CA392336803 | FBN1 | c.6345T>G (p.Ser2115Arg) c.1344T>G (p.Ser448Arg) c.*2108T>G (n.*2108T>G) c.1652T>G | |
| 15 | g.48437356A>G | CA490019271 | FBN1 | c.6345T>C (p.Ser2115=) c.1344T>C (p.Ser448=) c.*2108T>C (n.*2108T>C) c.1652T>C | |
| 15 | g.48437356A>T | CA392336804 | FBN1 | c.6345T>A (p.Ser2115Arg) c.1344T>A (p.Ser448Arg) c.*2108T>A (n.*2108T>A) c.1652T>A | |
| 15 | g.48437357C>A | CA392336805 | FBN1 | c.6344G>T (p.Ser2115Ile) c.1343G>T (p.Ser448Ile) c.*2107G>T (n.*2107G>T) c.1651G>T | |
| 15 | g.48437357C>G | CA392336806 | FBN1 | c.6344G>C (p.Ser2115Thr) c.1343G>C (p.Ser448Thr) c.*2107G>C (n.*2107G>C) c.1651G>C | |
| 15 | g.48437357C>T | CA392336807 | FBN1 | c.6344G>A (p.Ser2115Asn) c.1343G>A (p.Ser448Asn) c.*2107G>A (n.*2107G>A) c.1651G>A | gnomAD v4 |