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.48481633T>C | CA2628329022 | FBN1 | c.3964+22A>G (n.3964+22A>G) n.2638+22A>G c.637-6983A>G (n.637-6983A>G) | gnomAD v4 |
| 15 | g.48481634G>C | CA2175506284 | FBN1 | c.3964+21C>G (n.3964+21C>G) n.2638+21C>G c.637-6984C>G (n.637-6984C>G) | dbSNP gnomAD v4 |
| 15 | g.48481634G= | CA2175506283 | FBN1 | c.3964+21C= (n.3964+21C=) n.2638+21C= c.637-6984C= (n.637-6984C=) | |
| 15 | g.48481634G>T | CA2575717333 | FBN1 | c.3964+21C>A (n.3964+21C>A) n.2638+21C>A c.637-6984C>A (n.637-6984C>A) | gnomAD v4 |
| 15 | g.48481635T>C | CA617834942 | FBN1 | c.3964+20A>G (n.3964+20A>G) n.2638+20A>G c.637-6985A>G (n.637-6985A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48481635T= | CA2175506286 | FBN1 | c.3964+20A= (n.3964+20A=) n.2638+20A= c.637-6985A= (n.637-6985A=) | |
| 15 | g.48481636T>A | CA2628329031 | FBN1 | c.3964+19A>T (n.3964+19A>T) n.2638+19A>T c.637-6986A>T (n.637-6986A>T) | gnomAD v4 |
| 15 | g.48481636T>C | CA051746 | FBN1 | c.3964+19A>G (n.3964+19A>G) n.2638+19A>G c.637-6986A>G (n.637-6986A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481636T= | CA2175506292 | FBN1 | c.3964+19A= (n.3964+19A=) n.2638+19A= c.637-6986A= (n.637-6986A=) | |
| 15 | g.48481637C>G | CA2575717334 | FBN1 | c.3964+18G>C (n.3964+18G>C) n.2638+18G>C c.637-6987G>C (n.637-6987G>C) | |
| 15 | g.48481638T>C | CA269523885 | FBN1 | c.3964+17A>G (n.3964+17A>G) n.2638+17A>G c.637-6988A>G (n.637-6988A>G) | dbSNP |
| 15 | g.48481638T= | CA2175506293 | FBN1 | c.3964+17A= (n.3964+17A=) n.2638+17A= c.637-6988A= (n.637-6988A=) | |
| 15 | g.48481639dup | CA617834946 | FBN1 | c.3964+16dup (n.3964+16dup) n.2638+16dup c.637-6989dup (n.637-6989dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481640C>T | CA2628329037 | FBN1 | c.3964+15G>A (n.3964+15G>A) n.2638+15G>A c.637-6990G>A (n.637-6990G>A) | gnomAD v4 |
| 15 | g.48481641T>G | CA2628329038 | FBN1 | c.3964+14A>C (n.3964+14A>C) n.2638+14A>C c.637-6991A>C (n.637-6991A>C) | gnomAD v4 |
| 15 | g.48481642T>A | CA2804072260 | FBN1 | c.3964+13A>T (n.3964+13A>T) n.2638+13A>T c.637-6992A>T (n.637-6992A>T) | |
| 15 | g.48481642T>G | CA269523887 | FBN1 | c.3964+13A>C (n.3964+13A>C) n.2638+13A>C c.637-6992A>C (n.637-6992A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48481642T= | CA2175506301 | FBN1 | c.3964+13A= (n.3964+13A=) n.2638+13A= c.637-6992A= (n.637-6992A=) | |
| 15 | g.48481643G>A | CA051737 | FBN1 | c.3964+12C>T (n.3964+12C>T) n.2638+12C>T c.637-6993C>T (n.637-6993C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481643G>C | CA269523894 | FBN1 | c.3964+12C>G (n.3964+12C>G) n.2638+12C>G c.637-6993C>G (n.637-6993C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48481643G= | CA2175506310 | FBN1 | c.3964+12C= (n.3964+12C=) n.2638+12C= c.637-6993C= (n.637-6993C=) | |
| 15 | g.48481645A>G | CA2628329043 | FBN1 | c.3964+10T>C (n.3964+10T>C) n.2638+10T>C c.637-6995T>C (n.637-6995T>C) | gnomAD v4 |
| 15 | g.48481646C>A | CA617834949 | FBN1 | c.3964+9G>T (n.3964+9G>T) n.2638+9G>T c.637-6996G>T (n.637-6996G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48481646C= | CA2175506322 | FBN1 | c.3964+9G= (n.3964+9G=) n.2638+9G= c.637-6996G= (n.637-6996G=) | |
| 15 | g.48481646_48481647delinsCA | CA2175506321 | FBN1 | c.3964+8_3964+9delinsTG (n.3964+8_3964+9delinsTG) n.2638+8_2638+9delinsTG c.637-6997_637-6996delinsTG (n.637-6997_637-6996delinsTG) | |
| 15 | g.48481649del | CA919548799 | FBN1 | c.3964+8del (n.3964+8del) n.2638+8del c.637-6997del (n.637-6997del) | dbSNP gnomAD v4 |
| 15 | g.48481648A>T | CA2628329046 | FBN1 | c.3964+7T>A (n.3964+7T>A) n.2638+7T>A c.637-6998T>A (n.637-6998T>A) | gnomAD v4 |
| 15 | g.48481650C>A | CA1139663892 | FBN1 | c.3964+5G>T (n.3964+5G>T) n.2638+5G>T c.637-7000G>T (n.637-7000G>T) | ClinVar dbSNP |
| 15 | g.48481650C= | CA2175506326 | FBN1 | c.3964+5G= (n.3964+5G=) n.2638+5G= c.637-7000G= (n.637-7000G=) | |
| 15 | g.48481652_48481656dup | CA2628329048 | FBN1 | c.3963_3964+3dup n.2637_2638+3dup c.637-7006_637-7002dup (n.637-7006_637-7002dup) | gnomAD v4 |
| 15 | g.48481653A= | CA2175506335 | FBN1 | c.3964+2T= (n.3964+2T=) n.2638+2T= c.637-7003T= (n.637-7003T=) | |
| 15 | g.48481653A>C | CA392322181 | FBN1 | c.3964+2T>G (n.3964+2T>G) n.2638+2T>G c.637-7003T>G (n.637-7003T>G) | |
| 15 | g.48481653A>G | CA392322182 | FBN1 | c.3964+2T>C (n.3964+2T>C) n.2638+2T>C c.637-7003T>C (n.637-7003T>C) | ClinVar |
| 15 | g.48481653A>T | CA392322183 | FBN1 | c.3964+2T>A (n.3964+2T>A) n.2638+2T>A c.637-7003T>A (n.637-7003T>A) | |
| 15 | g.48481654C>A | CA392322185 | FBN1 | c.3964+1G>T (n.3964+1G>T) n.2638+1G>T c.637-7004G>T (n.637-7004G>T) | |
| 15 | g.48481654C= | CA2175506352 | FBN1 | c.3964+1G= (n.3964+1G=) n.2638+1G= c.637-7004G= (n.637-7004G=) | |
| 15 | g.48481654C>G | CA392322184 | FBN1 | c.3964+1G>C (n.3964+1G>C) n.2638+1G>C c.637-7004G>C (n.637-7004G>C) | |
| 15 | g.48481654C>T | CA014635 | FBN1 | c.3964+1G>A (n.3964+1G>A) n.2638+1G>A c.637-7004G>A (n.637-7004G>A) | ClinVar dbSNP |
| 15 | g.48481655dup | CA269523908 | FBN1 | c.3964+1dup n.2638+1dup c.637-7004dup (n.637-7004dup) | dbSNP |
| 15 | g.48481655C>A | CA392322186 | FBN1 | c.3964G>T (p.Asp1322Tyr) n.2638G>T c.637-7005G>T (n.637-7005G>T) | ClinVar |
| 15 | g.48481655C>G | CA392322187 | FBN1 | c.3964G>C (p.Asp1322His) n.2638G>C c.637-7005G>C (n.637-7005G>C) | |
| 15 | g.48481655C>T | CA392322188 | FBN1 | c.3964G>A (p.Asp1322Asn) n.2638G>A c.637-7005G>A (n.637-7005G>A) | ClinVar |
| 15 | g.48481656T>A | CA490016037 | FBN1 | c.3963A>T (p.Thr1321=) n.2637A>T c.637-7006A>T (n.637-7006A>T) | ClinVar |
| 15 | g.48481656T>C | CA269523924 | FBN1 | c.3963A>G (p.Thr1321=) n.2637A>G c.637-7006A>G (n.637-7006A>G) | ClinVar dbSNP |
| 15 | g.48481656T>G | CA490016040 | FBN1 | c.3963A>C (p.Thr1321=) n.2637A>C c.637-7006A>C (n.637-7006A>C) | gnomAD v4 |
| 15 | g.48481656T= | CA2175506362 | FBN1 | c.3963A= (p.Thr1321=) n.2637A= c.637-7006A= (n.637-7006A=) | |
| 15 | g.48481657G>A | CA051732 | FBN1 | c.3962C>T (p.Thr1321Ile) n.2636C>T c.637-7007C>T (n.637-7007C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 15 | g.48481657G>C | CA392322189 | FBN1 | c.3962C>G (p.Thr1321Arg) n.2636C>G c.637-7007C>G (n.637-7007C>G) | |
| 15 | g.48481657G= | CA2175506369 | FBN1 | c.3962C= (p.Thr1321=) n.2636C= c.637-7007C= (n.637-7007C=) | |
| 15 | g.48481657G>T | CA392322190 | FBN1 | c.3962C>A (p.Thr1321Lys) n.2636C>A c.637-7007C>A (n.637-7007C>A) | |
| 15 | g.48481657dup | CA658656486 | FBN1 | c.3962dup (p.Asp1322ArgfsTer4) n.2636dup c.637-7007dup (n.637-7007dup) | ClinVar dbSNP |
| 15 | g.48481658T>A | CA392322191 | FBN1 | c.3961A>T (p.Thr1321Ser) n.2635A>T c.637-7008A>T (n.637-7008A>T) | |
| 15 | g.48481658T>C | CA392322192 | FBN1 | c.3961A>G (p.Thr1321Ala) n.2635A>G c.637-7008A>G (n.637-7008A>G) | gnomAD v4 |
| 15 | g.48481658T>G | CA392322193 | FBN1 | c.3961A>C (p.Thr1321Pro) n.2635A>C c.637-7008A>C (n.637-7008A>C) | |
| 15 | g.48481659A>C | CA392322194 | FBN1 | c.3960T>G (p.Cys1320Trp) n.2634T>G c.637-7009T>G (n.637-7009T>G) | |
| 15 | g.48481659A>G | CA490016047 | FBN1 | c.3960T>C (p.Cys1320=) n.2634T>C c.637-7009T>C (n.637-7009T>C) | |
| 15 | g.48481659A>T | CA392322195 | FBN1 | c.3960T>A (p.Cys1320Ter) n.2634T>A c.637-7009T>A (n.637-7009T>A) | |
| 15 | g.48481659dup | CA2695220646 | FBN1 | c.3960dup (p.Thr1321TyrfsTer5) n.2634dup c.637-7009dup (n.637-7009dup) | |
| 15 | g.48481660C>A | CA392322196 | FBN1 | c.3959G>T (p.Cys1320Phe) n.2633G>T c.637-7010G>T (n.637-7010G>T) | ClinVar dbSNP |
| 15 | g.48481660C= | CA2175506386 | FBN1 | c.3959G= (p.Cys1320=) n.2633G= c.637-7010G= (n.637-7010G=) | |
| 15 | g.48481660C>G | CA269523937 | FBN1 | c.3959G>C (p.Cys1320Ser) n.2633G>C c.637-7010G>C (n.637-7010G>C) | ClinVar dbSNP |
| 15 | g.48481660C>T | CA392322197 | FBN1 | c.3959G>A (p.Cys1320Tyr) n.2633G>A c.637-7010G>A (n.637-7010G>A) | |
| 15 | g.48481661A= | CA2175506395 | FBN1 | c.3958T= (p.Cys1320=) n.2632T= c.637-7011T= (n.637-7011T=) | |
| 15 | g.48481661A>C | CA392322198 | FBN1 | c.3958T>G (p.Cys1320Gly) n.2632T>G c.637-7011T>G (n.637-7011T>G) | |
| 15 | g.48481661A>G | CA392322200 | FBN1 | c.3958T>C (p.Cys1320Arg) n.2632T>C c.637-7011T>C (n.637-7011T>C) | ClinVar dbSNP |
| 15 | g.48481661A>T | CA392322199 | FBN1 | c.3958T>A (p.Cys1320Ser) n.2632T>A c.637-7011T>A (n.637-7011T>A) | ClinVar |
| 15 | g.48481662G>A | CA051727 | FBN1 | c.3957C>T (p.Gly1319=) n.2631C>T c.637-7012C>T (n.637-7012C>T) | dbSNP ExAC |
| 15 | g.48481662G>C | CA490016059 | FBN1 | c.3957C>G (p.Gly1319=) n.2631C>G c.637-7012C>G (n.637-7012C>G) | |
| 15 | g.48481662G= | CA2175506405 | FBN1 | c.3957C= (p.Gly1319=) n.2631C= c.637-7012C= (n.637-7012C=) | |
| 15 | g.48481662G>T | CA490016061 | FBN1 | c.3957C>A (p.Gly1319=) n.2631C>A c.637-7012C>A (n.637-7012C>A) | |
| 15 | g.48481663C>A | CA392322201 | FBN1 | c.3956G>T (p.Gly1319Val) n.2630G>T c.637-7013G>T (n.637-7013G>T) | |
| 15 | g.48481663C>G | CA392322202 | FBN1 | c.3956G>C (p.Gly1319Ala) n.2630G>C c.637-7013G>C (n.637-7013G>C) | ClinVar |
| 15 | g.48481663C>T | CA392322203 | FBN1 | c.3956G>A (p.Gly1319Asp) n.2630G>A c.637-7013G>A (n.637-7013G>A) | |
| 15 | g.48481664C>A | CA392322204 | FBN1 | c.3955G>T (p.Gly1319Cys) n.2629G>T c.637-7014G>T (n.637-7014G>T) | |
| 15 | g.48481664C>G | CA392322205 | FBN1 | c.3955G>C (p.Gly1319Arg) n.2629G>C c.637-7014G>C (n.637-7014G>C) | |
| 15 | g.48481664C>T | CA392322206 | FBN1 | c.3955G>A (p.Gly1319Ser) n.2629G>A c.637-7014G>A (n.637-7014G>A) | ClinVar dbSNP |
| 15 | g.48481665A= | CA2175506415 | FBN1 | c.3954T= (p.Thr1318=) n.2628T= c.637-7015T= (n.637-7015T=) | |
| 15 | g.48481665A>C | CA490016070 | FBN1 | c.3954T>G (p.Thr1318=) n.2628T>G c.637-7015T>G (n.637-7015T>G) | |
| 15 | g.48481665A>G | CA490016073 | FBN1 | c.3954T>C (p.Thr1318=) n.2628T>C c.637-7015T>C (n.637-7015T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48481665A>T | CA490016071 | FBN1 | c.3954T>A (p.Thr1318=) n.2628T>A c.637-7015T>A (n.637-7015T>A) | dbSNP |
| 15 | g.48481666G>A | CA392322207 | FBN1 | c.3953C>T (p.Thr1318Ile) n.2627C>T c.637-7016C>T (n.637-7016C>T) | gnomAD v4 |
| 15 | g.48481666G>C | CA392322208 | FBN1 | c.3953C>G (p.Thr1318Ser) n.2627C>G c.637-7016C>G (n.637-7016C>G) | |
| 15 | g.48481666G= | CA2175506421 | FBN1 | c.3953C= (p.Thr1318=) n.2627C= c.637-7016C= (n.637-7016C=) | |
| 15 | g.48481666G>T | CA392322209 | FBN1 | c.3953C>A (p.Thr1318Asn) n.2627C>A c.637-7016C>A (n.637-7016C>A) | |
| 15 | g.48481667T>A | CA392322212 | FBN1 | c.3952A>T (p.Thr1318Ser) n.2626A>T c.637-7017A>T (n.637-7017A>T) | |
| 15 | g.48481667T>C | CA392322211 | FBN1 | c.3952A>G (p.Thr1318Ala) n.2626A>G c.637-7017A>G (n.637-7017A>G) | |
| 15 | g.48481667T>G | CA392322210 | FBN1 | c.3952A>C (p.Thr1318Pro) n.2626A>C c.637-7017A>C (n.637-7017A>C) | |
| 15 | g.48481671dup | CA891843838 | FBN1 | c.3952dup (p.Thr1318AsnfsTer8) n.2626dup c.637-7017dup (n.637-7017dup) | ClinVar dbSNP |
| 15 | g.48481671del | CA2695220647 | FBN1 | c.3952del (p.Thr1318LeufsTer?) n.2626del c.637-7017del (n.637-7017del) | |
| 15 | g.48481668T>A | CA392322213 | FBN1 | c.3951A>T (p.Lys1317Asn) n.2625A>T c.637-7018A>T (n.637-7018A>T) | |
| 15 | g.48481668T>C | CA490016082 | FBN1 | c.3951A>G (p.Lys1317=) n.2625A>G c.637-7018A>G (n.637-7018A>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48481668T>G | CA392322214 | FBN1 | c.3951A>C (p.Lys1317Asn) n.2625A>C c.637-7018A>C (n.637-7018A>C) | |
| 15 | g.48481668T= | CA2175506431 | FBN1 | c.3951A= (p.Lys1317=) n.2625A= c.637-7018A= (n.637-7018A=) | |
| 15 | g.48481669T>A | CA392322215 | FBN1 | c.3950A>T (p.Lys1317Ile) n.2624A>T c.637-7019A>T (n.637-7019A>T) | |
| 15 | g.48481669T>C | CA392322216 | FBN1 | c.3950A>G (p.Lys1317Arg) n.2624A>G c.637-7019A>G (n.637-7019A>G) | gnomAD v4 |
| 15 | g.48481669T>G | CA392322217 | FBN1 | c.3950A>C (p.Lys1317Thr) n.2624A>C c.637-7019A>C (n.637-7019A>C) | |
| 15 | g.48481670T>A | CA392322218 | FBN1 | c.3949A>T (p.Lys1317Ter) n.2623A>T c.637-7020A>T (n.637-7020A>T) | |
| 15 | g.48481670T>C | CA392322219 | FBN1 | c.3949A>G (p.Lys1317Glu) n.2623A>G c.637-7020A>G (n.637-7020A>G) | |
| 15 | g.48481670T>G | CA392322220 | FBN1 | c.3949A>C (p.Lys1317Gln) n.2623A>C c.637-7020A>C (n.637-7020A>C) | |
| 15 | g.48481670_48481672delinsTTC | CA2175506434 | FBN1 | c.3947_3949delinsGAA (p.Gly1316=) n.2621_2623delinsGAA c.637-7022_637-7020delinsGAA (n.637-7022_637-7020delinsGAA) | |
| 15 | g.48481671T>A | CA490016089 | FBN1 | c.3948A>T (p.Gly1316=) n.2622A>T c.637-7021A>T (n.637-7021A>T) | |
| 15 | g.48481671T>C | CA490016092 | FBN1 | c.3948A>G (p.Gly1316=) n.2622A>G c.637-7021A>G (n.637-7021A>G) | |
| 15 | g.48481671T>G | CA490016094 | FBN1 | c.3948A>C (p.Gly1316=) n.2622A>C c.637-7021A>C (n.637-7021A>C) | |
| 15 | g.48481671_48481672delinsA | CA658824431 | FBN1 | c.3947_3948delinsT (p.Gly1316ValfsTer?) n.2621_2622delinsT c.637-7022_637-7021delinsT (n.637-7022_637-7021delinsT) | ClinVar dbSNP |
| 15 | g.48481671_48481672delinsTC | CA2175506442 | FBN1 | c.3947_3948delinsGA (p.Gly1316=) n.2621_2622delinsGA c.637-7022_637-7021delinsGA (n.637-7022_637-7021delinsGA) | |
| 15 | g.48481672C>A | CA392322221 | FBN1 | c.3947G>T (p.Gly1316Val) n.2621G>T c.637-7022G>T (n.637-7022G>T) | |
| 15 | g.48481672C>G | CA392322222 | FBN1 | c.3947G>C (p.Gly1316Ala) n.2621G>C c.637-7022G>C (n.637-7022G>C) | |
| 15 | g.48481672C>T | CA392322223 | FBN1 | c.3947G>A (p.Gly1316Glu) n.2621G>A c.637-7022G>A (n.637-7022G>A) | ClinVar dbSNP |
| 15 | g.48481673del | CA658798364 | FBN1 | c.3947del (p.Gly1316GlufsTer?) n.2621del c.637-7022del (n.637-7022del) | ClinVar dbSNP |
| 15 | g.48481673C>A | CA392322225 | FBN1 | c.3946G>T (p.Gly1316Ter) n.2620G>T c.637-7023G>T (n.637-7023G>T) | |
| 15 | g.48481673C>G | CA392322226 | FBN1 | c.3946G>C (p.Gly1316Arg) n.2620G>C c.637-7023G>C (n.637-7023G>C) | |
| 15 | g.48481673C>T | CA392322224 | FBN1 | c.3946G>A (p.Gly1316Arg) n.2620G>A c.637-7023G>A (n.637-7023G>A) | |
| 15 | g.48481673_48481674delinsCT | CA2175506452 | FBN1 | c.3945_3946delinsAG (p.Lys1315=) n.2619_2620delinsAG c.637-7024_637-7023delinsAG (n.637-7024_637-7023delinsAG) | |
| 15 | g.48481674T>A | CA392322227 | FBN1 | c.3945A>T (p.Lys1315Asn) n.2619A>T c.637-7024A>T (n.637-7024A>T) | gnomAD v4 |
| 15 | g.48481674T>C | CA490016101 | FBN1 | c.3945A>G (p.Lys1315=) n.2619A>G c.637-7024A>G (n.637-7024A>G) | |
| 15 | g.48481674T>G | CA392322228 | FBN1 | c.3945A>C (p.Lys1315Asn) n.2619A>C c.637-7024A>C (n.637-7024A>C) | |
| 15 | g.48481679dup | CA645587582 | FBN1 | c.3945dup (p.Gly1316ArgfsTer10) n.2619dup c.637-7024dup (n.637-7024dup) | ClinVar dbSNP COSMIC |
| 15 | g.48481678_48481679dup | CA2804072263 | FBN1 | c.3944_3945dup (p.Gly1316LysfsTer?) n.2618_2619dup c.637-7025_637-7024dup (n.637-7025_637-7024dup) | |
| 15 | g.48481679del | CA658824432 | FBN1 | c.3945del (p.Gly1316GlufsTer?) n.2619del c.637-7024del (n.637-7024del) | ClinVar dbSNP |
| 15 | g.48481675T>A | CA392322229 | FBN1 | c.3944A>T (p.Lys1315Ile) n.2618A>T c.637-7025A>T (n.637-7025A>T) | |
| 15 | g.48481675T>C | CA392322230 | FBN1 | c.3944A>G (p.Lys1315Arg) n.2618A>G c.637-7025A>G (n.637-7025A>G) | ClinVar |
| 15 | g.48481675T>G | CA392322231 | FBN1 | c.3944A>C (p.Lys1315Thr) n.2618A>C c.637-7025A>C (n.637-7025A>C) | |
| 15 | g.48481676T>A | CA392322232 | FBN1 | c.3943A>T (p.Lys1315Ter) n.2617A>T c.637-7026A>T (n.637-7026A>T) | |
| 15 | g.48481676T>C | CA392322233 | FBN1 | c.3943A>G (p.Lys1315Glu) n.2617A>G c.637-7026A>G (n.637-7026A>G) | |
| 15 | g.48481676T>G | CA392322234 | FBN1 | c.3943A>C (p.Lys1315Gln) n.2617A>C c.637-7026A>C (n.637-7026A>C) | |
| 15 | g.48481677T>A | CA392322235 | FBN1 | c.3942A>T (p.Lys1314Asn) n.2616A>T c.637-7027A>T (n.637-7027A>T) | |
| 15 | g.48481677T>C | CA490016109 | FBN1 | c.3942A>G (p.Lys1314=) n.2616A>G c.637-7027A>G (n.637-7027A>G) | |
| 15 | g.48481677T>G | CA392322236 | FBN1 | c.3942A>C (p.Lys1314Asn) n.2616A>C c.637-7027A>C (n.637-7027A>C) | |
| 15 | g.48481678T>A | CA392322237 | FBN1 | c.3941A>T (p.Lys1314Ile) n.2615A>T c.637-7028A>T (n.637-7028A>T) | |
| 15 | g.48481678T>C | CA392322238 | FBN1 | c.3941A>G (p.Lys1314Arg) n.2615A>G c.637-7028A>G (n.637-7028A>G) | gnomAD v4 |
| 15 | g.48481678T>G | CA392322239 | FBN1 | c.3941A>C (p.Lys1314Thr) n.2615A>C c.637-7028A>C (n.637-7028A>C) | |
| 15 | g.48481679T>A | CA392322242 | FBN1 | c.3940A>T (p.Lys1314Ter) n.2614A>T c.637-7029A>T (n.637-7029A>T) | |
| 15 | g.48481679T>C | CA392322241 | FBN1 | c.3940A>G (p.Lys1314Glu) n.2614A>G c.637-7029A>G (n.637-7029A>G) | |
| 15 | g.48481679T>G | CA392322240 | FBN1 | c.3940A>C (p.Lys1314Gln) n.2614A>C c.637-7029A>C (n.637-7029A>C) | |
| 15 | g.48481680G>A | CA490016118 | FBN1 | c.3939C>T (p.Gly1313=) n.2613C>T c.637-7030C>T (n.637-7030C>T) | gnomAD v4 |
| 15 | g.48481680G>C | CA490016116 | FBN1 | c.3939C>G (p.Gly1313=) n.2613C>G c.637-7030C>G (n.637-7030C>G) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48481680G= | CA2175506473 | FBN1 | c.3939C= (p.Gly1313=) n.2613C= c.637-7030C= (n.637-7030C=) | |
| 15 | g.48481680G>T | CA490016117 | FBN1 | c.3939C>A (p.Gly1313=) n.2613C>A c.637-7030C>A (n.637-7030C>A) | |
| 15 | g.48481680_48481689del | CA2628329052 | FBN1 | c.3930_3939del (p.Tyr1311LysfsTer?) n.2604_2613del c.637-7039_637-7030del (n.637-7039_637-7030del) | gnomAD v4 |
| 15 | g.48481681C>A | CA392322243 | FBN1 | c.3938G>T (p.Gly1313Val) n.2612G>T c.637-7031G>T (n.637-7031G>T) | gnomAD v4 |
| 15 | g.48481681C>G | CA392322244 | FBN1 | c.3938G>C (p.Gly1313Ala) n.2612G>C c.637-7031G>C (n.637-7031G>C) | ClinVar |
| 15 | g.48481681C>T | CA392322245 | FBN1 | c.3938G>A (p.Gly1313Asp) n.2612G>A c.637-7031G>A (n.637-7031G>A) | gnomAD v4 |
| 15 | g.48481682C>A | CA392322246 | FBN1 | c.3937G>T (p.Gly1313Cys) n.2611G>T c.637-7032G>T (n.637-7032G>T) | |
| 15 | g.48481682C= | CA2175506494 | FBN1 | c.3937G= (p.Gly1313=) n.2611G= c.637-7032G= (n.637-7032G=) | |
| 15 | g.48481682C>G | CA392322247 | FBN1 | c.3937G>C (p.Gly1313Arg) n.2611G>C c.637-7032G>C (n.637-7032G>C) | ClinVar dbSNP COSMIC |
| 15 | g.48481682C>T | CA392322248 | FBN1 | c.3937G>A (p.Gly1313Ser) n.2611G>A c.637-7032G>A (n.637-7032G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481683G>A | CA051715 | FBN1 | c.3936C>T (p.Ser1312=) n.2610C>T c.637-7033C>T (n.637-7033C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481683G>C | CA490016124 | FBN1 | c.3936C>G (p.Ser1312=) n.2610C>G c.637-7033C>G (n.637-7033C>G) | |
| 15 | g.48481683G= | CA2175506532 | FBN1 | c.3936C= (p.Ser1312=) n.2610C= c.637-7033C= (n.637-7033C=) | |
| 15 | g.48481683G>T | CA490016125 | FBN1 | c.3936C>A (p.Ser1312=) n.2610C>A c.637-7033C>A (n.637-7033C>A) | ClinVar dbSNP COSMIC |
| 15 | g.48481684G>A | CA392322249 | FBN1 | c.3935C>T (p.Ser1312Phe) n.2609C>T c.637-7034C>T (n.637-7034C>T) | |
| 15 | g.48481684G>C | CA392322250 | FBN1 | c.3935C>G (p.Ser1312Cys) n.2609C>G c.637-7034C>G (n.637-7034C>G) | |
| 15 | g.48481684G>T | CA392322251 | FBN1 | c.3935C>A (p.Ser1312Tyr) n.2609C>A c.637-7034C>A (n.637-7034C>A) | |
| 15 | g.48481685A>C | CA392322252 | FBN1 | c.3934T>G (p.Ser1312Ala) n.2608T>G c.637-7035T>G (n.637-7035T>G) | |
| 15 | g.48481685A>G | CA392322253 | FBN1 | c.3934T>C (p.Ser1312Pro) n.2608T>C c.637-7035T>C (n.637-7035T>C) | |
| 15 | g.48481685A>T | CA392322254 | FBN1 | c.3934T>A (p.Ser1312Thr) n.2608T>A c.637-7035T>A (n.637-7035T>A) | |
| 15 | g.48481686G>A | CA490016133 | FBN1 | c.3933C>T (p.Tyr1311=) n.2607C>T c.637-7036C>T (n.637-7036C>T) | |
| 15 | g.48481686G>C | CA392322255 | FBN1 | c.3933C>G (p.Tyr1311Ter) n.2607C>G c.637-7036C>G (n.637-7036C>G) | |
| 15 | g.48481686G>T | CA392322256 | FBN1 | c.3933C>A (p.Tyr1311Ter) n.2607C>A c.637-7036C>A (n.637-7036C>A) | |
| 15 | g.48481687T>A | CA392322257 | FBN1 | c.3932A>T (p.Tyr1311Phe) n.2606A>T c.637-7037A>T (n.637-7037A>T) | |
| 15 | g.48481687T>C | CA392322259 | FBN1 | c.3932A>G (p.Tyr1311Cys) n.2606A>G c.637-7037A>G (n.637-7037A>G) | ClinVar dbSNP |
| 15 | g.48481687T>G | CA392322258 | FBN1 | c.3932A>C (p.Tyr1311Ser) n.2606A>C c.637-7037A>C (n.637-7037A>C) | |
| 15 | g.48481687T= | CA2175506545 | FBN1 | c.3932A= (p.Tyr1311=) n.2606A= c.637-7037A= (n.637-7037A=) | |
| 15 | g.48481688A= | CA2175506562 | FBN1 | c.3931T= (p.Tyr1311=) n.2605T= c.637-7038T= (n.637-7038T=) | |
| 15 | g.48481688A>C | CA392322260 | FBN1 | c.3931T>G (p.Tyr1311Asp) n.2605T>G c.637-7038T>G (n.637-7038T>G) | |
| 15 | g.48481688A>G | CA392322262 | FBN1 | c.3931T>C (p.Tyr1311His) n.2605T>C c.637-7038T>C (n.637-7038T>C) | |
| 15 | g.48481688A>T | CA392322261 | FBN1 | c.3931T>A (p.Tyr1311Asn) n.2605T>A c.637-7038T>A (n.637-7038T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481689G>A | CA490016141 | FBN1 | c.3930C>T (p.Gly1310=) n.2604C>T c.637-7039C>T (n.637-7039C>T) | |
| 15 | g.48481689G>C | CA490016142 | FBN1 | c.3930C>G (p.Gly1310=) n.2604C>G c.637-7039C>G (n.637-7039C>G) | |
| 15 | g.48481689G>T | CA490016143 | FBN1 | c.3930C>A (p.Gly1310=) n.2604C>A c.637-7039C>A (n.637-7039C>A) | |
| 15 | g.48481690C>A | CA392322263 | FBN1 | c.3929G>T (p.Gly1310Val) n.2603G>T c.637-7040G>T (n.637-7040G>T) | ClinVar dbSNP |
| 15 | g.48481690C= | CA2175506575 | FBN1 | c.3929G= (p.Gly1310=) n.2603G= c.637-7040G= (n.637-7040G=) | |
| 15 | g.48481690C>G | CA392322264 | FBN1 | c.3929G>C (p.Gly1310Ala) n.2603G>C c.637-7040G>C (n.637-7040G>C) | |
| 15 | g.48481690C>T | CA392322265 | FBN1 | c.3929G>A (p.Gly1310Asp) n.2603G>A c.637-7040G>A (n.637-7040G>A) | COSMIC |
| 15 | g.48481692dup | CA2499222994 | FBN1 | c.3929dup (p.Tyr1311LeufsTer15) n.2603dup c.637-7040dup (n.637-7040dup) | ClinVar dbSNP |
| 15 | g.48481692del | CA2695220648 | FBN1 | c.3929del (p.Gly1310AlafsTer?) n.2603del c.637-7040del (n.637-7040del) | |
| 15 | g.48481691C>A | CA392322266 | FBN1 | c.3928G>T (p.Gly1310Cys) n.2602G>T c.637-7041G>T (n.637-7041G>T) | ClinVar dbSNP |
| 15 | g.48481691C= | CA2175506603 | FBN1 | c.3928G= (p.Gly1310=) n.2602G= c.637-7041G= (n.637-7041G=) | |
| 15 | g.48481691C>G | CA392322267 | FBN1 | c.3928G>C (p.Gly1310Arg) n.2602G>C c.637-7041G>C (n.637-7041G>C) | ClinVar |
| 15 | g.48481691C>T | CA392322268 | FBN1 | c.3928G>A (p.Gly1310Ser) n.2602G>A c.637-7041G>A (n.637-7041G>A) | ClinVar |
| 15 | g.48481692C>A | CA392322269 | FBN1 | c.3927G>T (p.Met1309Ile) n.2601G>T c.637-7042G>T (n.637-7042G>T) | |
| 15 | g.48481692C>G | CA392322270 | FBN1 | c.3927G>C (p.Met1309Ile) n.2601G>C c.637-7042G>C (n.637-7042G>C) | |
| 15 | g.48481692C>T | CA392322271 | FBN1 | c.3927G>A (p.Met1309Ile) n.2601G>A c.637-7042G>A (n.637-7042G>A) | |
| 15 | g.48481693A= | CA2175506611 | FBN1 | c.3926T= (p.Met1309=) n.2600T= c.637-7043T= (n.637-7043T=) | |
| 15 | g.48481693A>C | CA392322272 | FBN1 | c.3926T>G (p.Met1309Arg) n.2600T>G c.637-7043T>G (n.637-7043T>G) | |
| 15 | g.48481693A>G | CA269523943 | FBN1 | c.3926T>C (p.Met1309Thr) n.2600T>C c.637-7043T>C (n.637-7043T>C) | dbSNP gnomAD v4 COSMIC |
| 15 | g.48481693A>T | CA392322273 | FBN1 | c.3926T>A (p.Met1309Lys) n.2600T>A c.637-7043T>A (n.637-7043T>A) | |
| 15 | g.48481693_48481698delinsCCGGCAAAAAATGAG | CA2695220649 | FBN1 | c.3921_3926delinsCTCATTTTTTGCCGG (p.Asp1308_Met1309delinsSerPhePheAlaGly) n.2595_2600delinsCTCATTTTTTGCCGG c.637-7048_637-7043delinsCTCATTTTTTGCCGG (n.637-7048_637-7043delinsCTCATTTTTTGCCGG) | |
| 15 | g.48481694T>A | CA392322276 | FBN1 | c.3925A>T (p.Met1309Leu) n.2599A>T c.637-7044A>T (n.637-7044A>T) | |
| 15 | g.48481694T>C | CA392322275 | FBN1 | c.3925A>G (p.Met1309Val) n.2599A>G c.637-7044A>G (n.637-7044A>G) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48481694T>G | CA392322274 | FBN1 | c.3925A>C (p.Met1309Leu) n.2599A>C c.637-7044A>C (n.637-7044A>C) | |
| 15 | g.48481694T= | CA2175506617 | FBN1 | c.3925A= (p.Met1309=) n.2599A= c.637-7044A= (n.637-7044A=) | |
| 15 | g.48481694dup | CA2740096704 | FBN1 | c.3925dup (p.Met1309AsnfsTer17) n.2599dup c.637-7044dup (n.637-7044dup) | ClinVar |
| 15 | g.48481695A>C | CA392322277 | FBN1 | c.3924T>G (p.Asp1308Glu) n.2598T>G c.637-7045T>G (n.637-7045T>G) | |
| 15 | g.48481695A>G | CA490016157 | FBN1 | c.3924T>C (p.Asp1308=) n.2598T>C c.637-7045T>C (n.637-7045T>C) | gnomAD v4 |
| 15 | g.48481695A>T | CA392322278 | FBN1 | c.3924T>A (p.Asp1308Glu) n.2598T>A c.637-7045T>A (n.637-7045T>A) | |
| 15 | g.48481696T>A | CA392322279 | FBN1 | c.3923A>T (p.Asp1308Val) n.2597A>T c.637-7046A>T (n.637-7046A>T) | |
| 15 | g.48481696T>C | CA269523952 | FBN1 | c.3923A>G (p.Asp1308Gly) n.2597A>G c.637-7046A>G (n.637-7046A>G) | dbSNP |
| 15 | g.48481696T>G | CA051707 | FBN1 | c.3923A>C (p.Asp1308Ala) n.2597A>C c.637-7046A>C (n.637-7046A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48481696T= | CA2175506628 | FBN1 | c.3923A= (p.Asp1308=) n.2597A= c.637-7046A= (n.637-7046A=) | |
| 15 | g.48481697C>A | CA392322280 | FBN1 | c.3922G>T (p.Asp1308Tyr) n.2596G>T c.637-7047G>T (n.637-7047G>T) | |
| 15 | g.48481697C= | CA2175506635 | FBN1 | c.3922G= (p.Asp1308=) n.2596G= c.637-7047G= (n.637-7047G=) | |
| 15 | g.48481697C>G | CA392322281 | FBN1 | c.3922G>C (p.Asp1308His) n.2596G>C c.637-7047G>C (n.637-7047G>C) | |
| 15 | g.48481697C>T | CA392322282 | FBN1 | c.3922G>A (p.Asp1308Asn) n.2596G>A c.637-7047G>A (n.637-7047G>A) | dbSNP |
| 15 | g.48481699_48481700del | CA2740096705 | FBN1 | c.3921_3922del (p.Cys1307Ter) n.2595_2596del c.637-7048_637-7047del (n.637-7048_637-7047del) | ClinVar |
| 15 | g.48481698A= | CA2175506645 | FBN1 | c.3921T= (p.Cys1307=) n.2595T= c.637-7048T= (n.637-7048T=) | |
| 15 | g.48481698A>C | CA392322283 | FBN1 | c.3921T>G (p.Cys1307Trp) n.2595T>G c.637-7048T>G (n.637-7048T>G) | ClinVar dbSNP |
| 15 | g.48481698A>G | CA490016165 | FBN1 | c.3921T>C (p.Cys1307=) n.2595T>C c.637-7048T>C (n.637-7048T>C) | |
| 15 | g.48481698A>T | CA392322284 | FBN1 | c.3921T>A (p.Cys1307Ter) n.2595T>A c.637-7048T>A (n.637-7048T>A) | |
| 15 | g.48481699C>A | CA392322285 | FBN1 | c.3920G>T (p.Cys1307Phe) n.2594G>T c.637-7049G>T (n.637-7049G>T) | |
| 15 | g.48481699C>G | CA392322286 | FBN1 | c.3920G>C (p.Cys1307Ser) n.2594G>C c.637-7049G>C (n.637-7049G>C) | |
| 15 | g.48481699C>T | CA392322287 | FBN1 | c.3920G>A (p.Cys1307Tyr) n.2594G>A c.637-7049G>A (n.637-7049G>A) | ClinVar COSMIC |
| 15 | g.48481700A>C | CA392322289 | FBN1 | c.3919T>G (p.Cys1307Gly) n.2593T>G c.637-7050T>G (n.637-7050T>G) | |
| 15 | g.48481700A>G | CA392322290 | FBN1 | c.3919T>C (p.Cys1307Arg) n.2593T>C c.637-7050T>C (n.637-7050T>C) | |
| 15 | g.48481700A>T | CA392322288 | FBN1 | c.3919T>A (p.Cys1307Ser) n.2593T>A c.637-7050T>A (n.637-7050T>A) | |
| 15 | g.48481701G>A | CA490016167 | FBN1 | c.3918C>T (p.His1306=) n.2592C>T c.637-7051C>T (n.637-7051C>T) | |
| 15 | g.48481701G>C | CA392322291 | FBN1 | c.3918C>G (p.His1306Gln) n.2592C>G c.637-7051C>G (n.637-7051C>G) | |
| 15 | g.48481701G>T | CA392322292 | FBN1 | c.3918C>A (p.His1306Gln) n.2592C>A c.637-7051C>A (n.637-7051C>A) | |
| 15 | g.48481702T>A | CA392322293 | FBN1 | c.3917A>T (p.His1306Leu) n.2591A>T c.637-7052A>T (n.637-7052A>T) | gnomAD v4 |
| 15 | g.48481702T>C | CA392322294 | FBN1 | c.3917A>G (p.His1306Arg) n.2591A>G c.637-7052A>G (n.637-7052A>G) | gnomAD v4 |
| 15 | g.48481702T>G | CA392322295 | FBN1 | c.3917A>C (p.His1306Pro) n.2591A>C c.637-7052A>C (n.637-7052A>C) | |
| 15 | g.48481703G>A | CA392322296 | FBN1 | c.3916C>T (p.His1306Tyr) n.2590C>T c.637-7053C>T (n.637-7053C>T) | |
| 15 | g.48481703G>C | CA392322297 | FBN1 | c.3916C>G (p.His1306Asp) n.2590C>G c.637-7053C>G (n.637-7053C>G) | |
| 15 | g.48481703G>T | CA392322298 | FBN1 | c.3916C>A (p.His1306Asn) n.2590C>A c.637-7053C>A (n.637-7053C>A) | |
| 15 | g.48481704G>A | CA490016176 | FBN1 | c.3915C>T (p.Cys1305=) n.2589C>T c.637-7054C>T (n.637-7054C>T) | dbSNP COSMIC |
| 15 | g.48481704G>C | CA392322299 | FBN1 | c.3915C>G (p.Cys1305Trp) n.2589C>G c.637-7054C>G (n.637-7054C>G) | |
| 15 | g.48481704G= | CA2175506654 | FBN1 | c.3915C= (p.Cys1305=) n.2589C= c.637-7054C= (n.637-7054C=) | |
| 15 | g.48481704G>T | CA392322300 | FBN1 | c.3915C>A (p.Cys1305Ter) n.2589C>A c.637-7054C>A (n.637-7054C>A) | ClinVar dbSNP |
| 15 | g.48481706_48481717del | CA2580089537 | FBN1 | c.3904_3915del (p.Ser1302_Cys1305del) n.2578_2589del c.637-7065_637-7054del (n.637-7065_637-7054del) | ClinVar |
| 15 | g.48481705C>A | CA392322303 | FBN1 | c.3914G>T (p.Cys1305Phe) n.2588G>T c.637-7055G>T (n.637-7055G>T) | |
| 15 | g.48481705C>G | CA392322302 | FBN1 | c.3914G>C (p.Cys1305Ser) n.2588G>C c.637-7055G>C (n.637-7055G>C) | |
| 15 | g.48481705C>T | CA392322301 | FBN1 | c.3914G>A (p.Cys1305Tyr) n.2588G>A c.637-7055G>A (n.637-7055G>A) | ClinVar |
| 15 | g.48481706A>C | CA392322304 | FBN1 | c.3913T>G (p.Cys1305Gly) n.2587T>G c.637-7056T>G (n.637-7056T>G) | |
| 15 | g.48481706A>G | CA392322305 | FBN1 | c.3913T>C (p.Cys1305Arg) n.2587T>C c.637-7056T>C (n.637-7056T>C) | |
| 15 | g.48481706A>T | CA392322306 | FBN1 | c.3913T>A (p.Cys1305Ser) n.2587T>A c.637-7056T>A (n.637-7056T>A) | |
| 15 | g.48481707G>A | CA490016185 | FBN1 | c.3912C>T (p.Ile1304=) n.2586C>T c.637-7057C>T (n.637-7057C>T) | |
| 15 | g.48481707G>C | CA392322307 | FBN1 | c.3912C>G (p.Ile1304Met) n.2586C>G c.637-7057C>G (n.637-7057C>G) | gnomAD v4 |
| 15 | g.48481707G>T | CA490016186 | FBN1 | c.3912C>A (p.Ile1304=) n.2586C>A c.637-7057C>A (n.637-7057C>A) | |
| 15 | g.48481708A>C | CA392322309 | FBN1 | c.3911T>G (p.Ile1304Ser) n.2585T>G c.637-7058T>G (n.637-7058T>G) | |
| 15 | g.48481708A>G | CA392322311 | FBN1 | c.3911T>C (p.Ile1304Thr) n.2585T>C c.637-7058T>C (n.637-7058T>C) | |
| 15 | g.48481708A>T | CA392322313 | FBN1 | c.3911T>A (p.Ile1304Asn) n.2585T>A c.637-7058T>A (n.637-7058T>A) | |
| 15 | g.48481709T>A | CA392322316 | FBN1 | c.3910A>T (p.Ile1304Phe) n.2584A>T c.637-7059A>T (n.637-7059A>T) | dbSNP gnomAD v2 |
| 15 | g.48481709T>C | CA392322319 | FBN1 | c.3910A>G (p.Ile1304Val) n.2584A>G c.637-7059A>G (n.637-7059A>G) | |
| 15 | g.48481709T>G | CA392322321 | FBN1 | c.3910A>C (p.Ile1304Leu) n.2584A>C c.637-7059A>C (n.637-7059A>C) | |
| 15 | g.48481709T= | CA2175506666 | FBN1 | c.3910A= (p.Ile1304=) n.2584A= c.637-7059A= (n.637-7059A=) | |
| 15 | g.48481710A>C | CA392322324 | FBN1 | c.3909T>G (p.Phe1303Leu) n.2583T>G c.637-7060T>G (n.637-7060T>G) | |
| 15 | g.48481710A>G | CA490016189 | FBN1 | c.3909T>C (p.Phe1303=) n.2583T>C c.637-7060T>C (n.637-7060T>C) | |
| 15 | g.48481710A>T | CA392322326 | FBN1 | c.3909T>A (p.Phe1303Leu) n.2583T>A c.637-7060T>A (n.637-7060T>A) | |
| 15 | g.48481712del | CA2695220650 | FBN1 | c.3909del (p.Phe1303LeufsTer?) n.2583del c.637-7060del (n.637-7060del) | |
| 15 | g.48481711A>C | CA392322332 | FBN1 | c.3908T>G (p.Phe1303Cys) n.2582T>G c.637-7061T>G (n.637-7061T>G) | |
| 15 | g.48481711A>G | CA392322335 | FBN1 | c.3908T>C (p.Phe1303Ser) n.2582T>C c.637-7061T>C (n.637-7061T>C) | |
| 15 | g.48481711A>T | CA392322329 | FBN1 | c.3908T>A (p.Phe1303Tyr) n.2582T>A c.637-7061T>A (n.637-7061T>A) | |
| 15 | g.48481711_48481718delinsTG | CA2695220651 | FBN1 | c.3901_3908delinsCA (p.Gly1301_Phe1303delinsHis) n.2575_2582delinsCA c.637-7068_637-7061delinsCA (n.637-7068_637-7061delinsCA) | |
| 15 | g.48481712A>C | CA392322342 | FBN1 | c.3907T>G (p.Phe1303Val) n.2581T>G c.637-7062T>G (n.637-7062T>G) | |
| 15 | g.48481712A>G | CA392322338 | FBN1 | c.3907T>C (p.Phe1303Leu) n.2581T>C c.637-7062T>C (n.637-7062T>C) | |
| 15 | g.48481712A>T | CA392322340 | FBN1 | c.3907T>A (p.Phe1303Ile) n.2581T>A c.637-7062T>A (n.637-7062T>A) | |
| 15 | g.48481713T>A | CA490016192 | FBN1 | c.3906A>T (p.Ser1302=) n.2580A>T c.637-7063A>T (n.637-7063A>T) | |
| 15 | g.48481713T>C | CA051702 | FBN1 | c.3906A>G (p.Ser1302=) n.2580A>G c.637-7063A>G (n.637-7063A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481713T>G | CA490016193 | FBN1 | c.3906A>C (p.Ser1302=) n.2580A>C c.637-7063A>C (n.637-7063A>C) | |
| 15 | g.48481713T= | CA2175506677 | FBN1 | c.3906A= (p.Ser1302=) n.2580A= c.637-7063A= (n.637-7063A=) | |
| 15 | g.48481713dup | CA2499222995 | FBN1 | c.3906dup (p.Phe1303IlefsTer6) n.2580dup c.637-7063dup (n.637-7063dup) | ClinVar dbSNP |
| 15 | g.48481714G>A | CA051697 | FBN1 | c.3905C>T (p.Ser1302Leu) n.2579C>T c.637-7064C>T (n.637-7064C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48481714G>C | CA392322349 | FBN1 | c.3905C>G (p.Ser1302Ter) n.2579C>G c.637-7064C>G (n.637-7064C>G) | |
| 15 | g.48481714G= | CA2175506682 | FBN1 | c.3905C= (p.Ser1302=) n.2579C= c.637-7064C= (n.637-7064C=) | |
| 15 | g.48481714G>T | CA392322350 | FBN1 | c.3905C>A (p.Ser1302Ter) n.2579C>A c.637-7064C>A (n.637-7064C>A) | COSMIC |
| 15 | g.48481715A>C | CA392322353 | FBN1 | c.3904T>G (p.Ser1302Ala) n.2578T>G c.637-7065T>G (n.637-7065T>G) | |
| 15 | g.48481715A>G | CA392322355 | FBN1 | c.3904T>C (p.Ser1302Pro) n.2578T>C c.637-7065T>C (n.637-7065T>C) | ClinVar dbSNP |
| 15 | g.48481715A>T | CA392322357 | FBN1 | c.3904T>A (p.Ser1302Thr) n.2578T>A c.637-7065T>A (n.637-7065T>A) | |
| 15 | g.48481715_48481718dup | CA2573150776 | FBN1 | c.3901_3904dup (p.Ser1302TrpfsTer8) n.2575_2578dup c.637-7068_637-7065dup (n.637-7068_637-7065dup) | ClinVar dbSNP |
| 15 | g.48481715_48481719delinsAGCCT | CA2175506689 | FBN1 | c.3900_3904delinsAGGCT (p.Lys1300=) n.2574_2578delinsAGGCT c.637-7069_637-7065delinsAGGCT (n.637-7069_637-7065delinsAGGCT) | |
| 15 | g.48481716G>A | CA16607805 | FBN1 | c.3903C>T (p.Gly1301=) n.2577C>T c.637-7066C>T (n.637-7066C>T) | ClinVar dbSNP |
| 15 | g.48481716G>C | CA490016198 | FBN1 | c.3903C>G (p.Gly1301=) n.2577C>G c.637-7066C>G (n.637-7066C>G) | |
| 15 | g.48481716G= | CA2175506697 | FBN1 | c.3903C= (p.Gly1301=) n.2577C= c.637-7066C= (n.637-7066C=) | |
| 15 | g.48481716G>T | CA490016197 | FBN1 | c.3903C>A (p.Gly1301=) n.2577C>A c.637-7066C>A (n.637-7066C>A) | |
| 15 | g.48481716_48481719del | CA1139663893 | FBN1 | c.3900_3903del (p.Lys1300AsnfsTer?) n.2574_2577del c.637-7069_637-7066del (n.637-7069_637-7066del) | ClinVar dbSNP |
| 15 | g.48481717_48481723del | CA2580089540 | FBN1 | c.3897_3903del (p.Lys1300HisfsTer?) n.2571_2577del c.637-7072_637-7066del (n.637-7072_637-7066del) | ClinVar |
| 15 | g.48481717C>A | CA16609651 | FBN1 | c.3902G>T (p.Gly1301Val) n.2576G>T c.637-7067G>T (n.637-7067G>T) | ClinVar dbSNP |
| 15 | g.48481717C= | CA2175506709 | FBN1 | c.3902G= (p.Gly1301=) n.2576G= c.637-7067G= (n.637-7067G=) | |
| 15 | g.48481717C>G | CA392322361 | FBN1 | c.3902G>C (p.Gly1301Ala) n.2576G>C c.637-7067G>C (n.637-7067G>C) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48481717C>T | CA392322363 | FBN1 | c.3902G>A (p.Gly1301Asp) n.2576G>A c.637-7067G>A (n.637-7067G>A) | ClinVar dbSNP |
| 15 | g.48481718del | CA2573150778 | FBN1 | c.3902del (p.Gly1301AlafsTer?) n.2576del c.637-7067del (n.637-7067del) | ClinVar dbSNP |
| 15 | g.48481718C>A | CA392322369 | FBN1 | c.3901G>T (p.Gly1301Cys) n.2575G>T c.637-7068G>T (n.637-7068G>T) | |
| 15 | g.48481718C>G | CA392322371 | FBN1 | c.3901G>C (p.Gly1301Arg) n.2575G>C c.637-7068G>C (n.637-7068G>C) | |
| 15 | g.48481718C>T | CA392322366 | FBN1 | c.3901G>A (p.Gly1301Ser) n.2575G>A c.637-7068G>A (n.637-7068G>A) | |
| 15 | g.48481719T>A | CA392322374 | FBN1 | c.3900A>T (p.Lys1300Asn) n.2574A>T c.637-7069A>T (n.637-7069A>T) | |
| 15 | g.48481719T>C | CA051690 | FBN1 | c.3900A>G (p.Lys1300=) n.2574A>G c.637-7069A>G (n.637-7069A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481719T>G | CA392322377 | FBN1 | c.3900A>C (p.Lys1300Asn) n.2574A>C c.637-7069A>C (n.637-7069A>C) | |
| 15 | g.48481719T= | CA2175506719 | FBN1 | c.3900A= (p.Lys1300=) n.2574A= c.637-7069A= (n.637-7069A=) | |
| 15 | g.48481720T>A | CA392322380 | FBN1 | c.3899A>T (p.Lys1300Ile) n.2573A>T c.637-7070A>T (n.637-7070A>T) | |
| 15 | g.48481720T>C | CA392322382 | FBN1 | c.3899A>G (p.Lys1300Arg) n.2573A>G c.637-7070A>G (n.637-7070A>G) | |
| 15 | g.48481720T>G | CA392322384 | FBN1 | c.3899A>C (p.Lys1300Thr) n.2573A>C c.637-7070A>C (n.637-7070A>C) | |
| 15 | g.48481721T>A | CA392322388 | FBN1 | c.3898A>T (p.Lys1300Ter) n.2572A>T c.637-7071A>T (n.637-7071A>T) | |
| 15 | g.48481721T>C | CA392322392 | FBN1 | c.3898A>G (p.Lys1300Glu) n.2572A>G c.637-7071A>G (n.637-7071A>G) | gnomAD v4 |
| 15 | g.48481721T>G | CA392322390 | FBN1 | c.3898A>C (p.Lys1300Gln) n.2572A>C c.637-7071A>C (n.637-7071A>C) | |
| 15 | g.48481722C>A | CA490016206 | FBN1 | c.3897G>T (p.Thr1299=) n.2571G>T c.637-7072G>T (n.637-7072G>T) | |
| 15 | g.48481722C= | CA2175506731 | FBN1 | c.3897G= (p.Thr1299=) n.2571G= c.637-7072G= (n.637-7072G=) | |
| 15 | g.48481722C>G | CA490016207 | FBN1 | c.3897G>C (p.Thr1299=) n.2571G>C c.637-7072G>C (n.637-7072G>C) | ClinVar dbSNP |
| 15 | g.48481722C>T | CA051677 | FBN1 | c.3897G>A (p.Thr1299=) n.2571G>A c.637-7072G>A (n.637-7072G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481723G>A | CA051669 | FBN1 | c.3896C>T (p.Thr1299Met) n.2570C>T c.637-7073C>T (n.637-7073C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481723G>C | CA392322399 | FBN1 | c.3896C>G (p.Thr1299Arg) n.2570C>G c.637-7073C>G (n.637-7073C>G) | |
| 15 | g.48481723G= | CA2175506743 | FBN1 | c.3896C= (p.Thr1299=) n.2570C= c.637-7073C= (n.637-7073C=) | |
| 15 | g.48481723G>T | CA392322401 | FBN1 | c.3896C>A (p.Thr1299Lys) n.2570C>A c.637-7073C>A (n.637-7073C>A) | COSMIC |
| 15 | g.48481723_48481728dup | CA2695220652 | FBN1 | c.3891_3896dup (p.Thr1299_Lys1300insAsnThr) n.2565_2570dup c.637-7078_637-7073dup (n.637-7078_637-7073dup) | |
| 15 | g.48481724T>A | CA392322407 | FBN1 | c.3895A>T (p.Thr1299Ser) n.2569A>T c.637-7074A>T (n.637-7074A>T) | |
| 15 | g.48481724T>C | CA392322405 | FBN1 | c.3895A>G (p.Thr1299Ala) n.2569A>G c.637-7074A>G (n.637-7074A>G) | COSMIC |
| 15 | g.48481724T>G | CA392322403 | FBN1 | c.3895A>C (p.Thr1299Pro) n.2569A>C c.637-7074A>C (n.637-7074A>C) | |
| 15 | g.48481724dup | CA16614651 | FBN1 | c.3895dup (p.Thr1299AsnfsTer10) n.2569dup c.637-7074dup (n.637-7074dup) | ClinVar dbSNP |
| 15 | g.48481725G>A | CA490016209 | FBN1 | c.3894C>T (p.Asn1298=) n.2568C>T c.637-7075C>T (n.637-7075C>T) | |
| 15 | g.48481725G>C | CA392322410 | FBN1 | c.3894C>G (p.Asn1298Lys) n.2568C>G c.637-7075C>G (n.637-7075C>G) | |
| 15 | g.48481725G>T | CA392322412 | FBN1 | c.3894C>A (p.Asn1298Lys) n.2568C>A c.637-7075C>A (n.637-7075C>A) | |
| 15 | g.48481725_48481726delinsGT | CA2175506755 | FBN1 | c.3893_3894delinsAC (p.Asn1298=) n.2567_2568delinsAC c.637-7076_637-7075delinsAC (n.637-7076_637-7075delinsAC) | |
| 15 | g.48481726T>A | CA392322413 | FBN1 | c.3893A>T (p.Asn1298Ile) n.2567A>T c.637-7076A>T (n.637-7076A>T) | |
| 15 | g.48481726T>C | CA392322414 | FBN1 | c.3893A>G (p.Asn1298Ser) n.2567A>G c.637-7076A>G (n.637-7076A>G) | |
| 15 | g.48481726T>G | CA392322415 | FBN1 | c.3893A>C (p.Asn1298Thr) n.2567A>C c.637-7076A>C (n.637-7076A>C) | ClinVar |
| 15 | g.48481729dup | CA353651 | FBN1 | c.3893dup (p.Asn1298LysfsTer11) n.2567dup c.637-7076dup (n.637-7076dup) | ClinVar dbSNP |
| 15 | g.48481729del | CA16614514 | FBN1 | c.3893del (p.Asn1298ThrfsTer?) n.2567del c.637-7076del (n.637-7076del) | ClinVar dbSNP |
| 15 | g.48481727T>A | CA392322418 | FBN1 | c.3892A>T (p.Asn1298Tyr) n.2566A>T c.637-7077A>T (n.637-7077A>T) | |
| 15 | g.48481727T>C | CA392322416 | FBN1 | c.3892A>G (p.Asn1298Asp) n.2566A>G c.637-7077A>G (n.637-7077A>G) | gnomAD v4 |
| 15 | g.48481727T>G | CA392322417 | FBN1 | c.3892A>C (p.Asn1298His) n.2566A>C c.637-7077A>C (n.637-7077A>C) | |
| 15 | g.48481728T>A | CA392322419 | FBN1 | c.3891A>T (p.Glu1297Asp) n.2565A>T c.637-7078A>T (n.637-7078A>T) | |
| 15 | g.48481728T>C | CA490016215 | FBN1 | c.3891A>G (p.Glu1297=) n.2565A>G c.637-7078A>G (n.637-7078A>G) | |
| 15 | g.48481728T>G | CA392322420 | FBN1 | c.3891A>C (p.Glu1297Asp) n.2565A>C c.637-7078A>C (n.637-7078A>C) | |
| 15 | g.48481730_48481743del | CA2580089544 | FBN1 | c.3878_3891del (p.Ser1293LysfsTer11) n.2552_2565del c.637-7091_637-7078del (n.637-7091_637-7078del) | ClinVar |
| 15 | g.48481729T>A | CA392322421 | FBN1 | c.3890A>T (p.Glu1297Val) n.2564A>T c.637-7079A>T (n.637-7079A>T) | |
| 15 | g.48481729T>C | CA014626 | FBN1 | c.3890A>G (p.Glu1297Gly) n.2564A>G c.637-7079A>G (n.637-7079A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48481729T>G | CA392322422 | FBN1 | c.3890A>C (p.Glu1297Ala) n.2564A>C c.637-7079A>C (n.637-7079A>C) | |
| 15 | g.48481729T= | CA2175506772 | FBN1 | c.3890A= (p.Glu1297=) n.2564A= c.637-7079A= (n.637-7079A=) | |
| 15 | g.48481730C>A | CA392322423 | FBN1 | c.3889G>T (p.Glu1297Ter) n.2563G>T c.637-7080G>T (n.637-7080G>T) | |
| 15 | g.48481730C= | CA2175506780 | FBN1 | c.3889G= (p.Glu1297=) n.2563G= c.637-7080G= (n.637-7080G=) | |
| 15 | g.48481730C>G | CA392322425 | FBN1 | c.3889G>C (p.Glu1297Gln) n.2563G>C c.637-7080G>C (n.637-7080G>C) | |
| 15 | g.48481730C>T | CA392322424 | FBN1 | c.3889G>A (p.Glu1297Lys) n.2563G>A c.637-7080G>A (n.637-7080G>A) | dbSNP COSMIC |
| 15 | g.48481731A>C | CA392322426 | FBN1 | c.3888T>G (p.Cys1296Trp) n.2562T>G c.637-7081T>G (n.637-7081T>G) | |
| 15 | g.48481731A>G | CA490016220 | FBN1 | c.3888T>C (p.Cys1296=) n.2562T>C c.637-7081T>C (n.637-7081T>C) | |
| 15 | g.48481731A>T | CA392322427 | FBN1 | c.3888T>A (p.Cys1296Ter) n.2562T>A c.637-7081T>A (n.637-7081T>A) | |
| 15 | g.48481732C>A | CA392322428 | FBN1 | c.3887G>T (p.Cys1296Phe) n.2561G>T c.637-7082G>T (n.637-7082G>T) | |
| 15 | g.48481732C>G | CA392322429 | FBN1 | c.3887G>C (p.Cys1296Ser) n.2561G>C c.637-7082G>C (n.637-7082G>C) | |
| 15 | g.48481732C>T | CA392322430 | FBN1 | c.3887G>A (p.Cys1296Tyr) n.2561G>A c.637-7082G>A (n.637-7082G>A) | |
| 15 | g.48481733A= | CA2175506786 | FBN1 | c.3886T= (p.Cys1296=) n.2560T= c.637-7083T= (n.637-7083T=) | |
| 15 | g.48481733A>C | CA392322431 | FBN1 | c.3886T>G (p.Cys1296Gly) n.2560T>G c.637-7083T>G (n.637-7083T>G) | |
| 15 | g.48481733A>G | CA014615 | FBN1 | c.3886T>C (p.Cys1296Arg) n.2560T>C c.637-7083T>C (n.637-7083T>C) | ClinVar dbSNP |
| 15 | g.48481733A>T | CA392322432 | FBN1 | c.3886T>A (p.Cys1296Ser) n.2560T>A c.637-7083T>A (n.637-7083T>A) |