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.48441654T>A | CA2628334296 | FBN1 | c.6163+67A>T (n.6163+67A>T) c.1162+67A>T (n.1162+67A>T) c.*1926+67A>T (n.*1926+67A>T) c.1470+67A>T n.283+67A>T | gnomAD v4 |
| 15 | g.48441654T>C | CA2628334295 | FBN1 | c.6163+67A>G (n.6163+67A>G) c.1162+67A>G (n.1162+67A>G) c.*1926+67A>G (n.*1926+67A>G) c.1470+67A>G n.283+67A>G | gnomAD v4 |
| 15 | g.48441656G>A | CA2628334299 | FBN1 | c.6163+65C>T (n.6163+65C>T) c.1162+65C>T (n.1162+65C>T) c.*1926+65C>T (n.*1926+65C>T) c.1470+65C>T n.283+65C>T | gnomAD v4 |
| 15 | g.48441656G>C | CA2730600837 | FBN1 | c.6163+65C>G (n.6163+65C>G) c.1162+65C>G (n.1162+65C>G) c.*1926+65C>G (n.*1926+65C>G) c.1470+65C>G n.283+65C>G | dbSNP |
| 15 | g.48441656G= | CA2175508499 | FBN1 | c.6163+65C= (n.6163+65C=) c.1162+65C= (n.1162+65C=) c.*1926+65C= (n.*1926+65C=) c.1470+65C= n.283+65C= | |
| 15 | g.48441656G>T | CA617836479 | FBN1 | c.6163+65C>A (n.6163+65C>A) c.1162+65C>A (n.1162+65C>A) c.*1926+65C>A (n.*1926+65C>A) c.1470+65C>A n.283+65C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441658A>C | CA2575717053 | FBN1 | c.6163+63T>G (n.6163+63T>G) c.1162+63T>G (n.1162+63T>G) c.*1926+63T>G (n.*1926+63T>G) c.1470+63T>G n.283+63T>G | gnomAD v4 |
| 15 | g.48441660A= | CA2175508501 | FBN1 | c.6163+61T= (n.6163+61T=) c.1162+61T= (n.1162+61T=) c.*1926+61T= (n.*1926+61T=) c.1470+61T= n.283+61T= | |
| 15 | g.48441660A>G | CA269530630 | FBN1 | c.6163+61T>C (n.6163+61T>C) c.1162+61T>C (n.1162+61T>C) c.*1926+61T>C (n.*1926+61T>C) c.1470+61T>C n.283+61T>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441661A>C | CA2628334303 | FBN1 | c.6163+60T>G (n.6163+60T>G) c.1162+60T>G (n.1162+60T>G) c.*1926+60T>G (n.*1926+60T>G) c.1470+60T>G n.283+60T>G | gnomAD v4 |
| 15 | g.48441661A>G | CA2628334304 | FBN1 | c.6163+60T>C (n.6163+60T>C) c.1162+60T>C (n.1162+60T>C) c.*1926+60T>C (n.*1926+60T>C) c.1470+60T>C n.283+60T>C | gnomAD v4 |
| 15 | g.48441663A= | CA2175508504 | FBN1 | c.6163+58T= (n.6163+58T=) c.1162+58T= (n.1162+58T=) c.*1926+58T= (n.*1926+58T=) c.1470+58T= n.283+58T= | |
| 15 | g.48441663A>C | CA269530631 | FBN1 | c.6163+58T>G (n.6163+58T>G) c.1162+58T>G (n.1162+58T>G) c.*1926+58T>G (n.*1926+58T>G) c.1470+58T>G n.283+58T>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441665G>A | CA969549018 | FBN1 | c.6163+56C>T (n.6163+56C>T) c.1162+56C>T (n.1162+56C>T) c.*1926+56C>T (n.*1926+56C>T) c.1470+56C>T n.283+56C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441665G>C | CA2575717054 | FBN1 | c.6163+56C>G (n.6163+56C>G) c.1162+56C>G (n.1162+56C>G) c.*1926+56C>G (n.*1926+56C>G) c.1470+56C>G n.283+56C>G | |
| 15 | g.48441665G= | CA2175508508 | FBN1 | c.6163+56C= (n.6163+56C=) c.1162+56C= (n.1162+56C=) c.*1926+56C= (n.*1926+56C=) c.1470+56C= n.283+56C= | |
| 15 | g.48441665G>T | CA2628334310 | FBN1 | c.6163+56C>A (n.6163+56C>A) c.1162+56C>A (n.1162+56C>A) c.*1926+56C>A (n.*1926+56C>A) c.1470+56C>A n.283+56C>A | gnomAD v4 |
| 15 | g.48441667C>A | CA2628334313 | FBN1 | c.6163+54G>T (n.6163+54G>T) c.1162+54G>T (n.1162+54G>T) c.*1926+54G>T (n.*1926+54G>T) c.1470+54G>T n.283+54G>T | gnomAD v4 |
| 15 | g.48441667C>T | CA2575717055 | FBN1 | c.6163+54G>A (n.6163+54G>A) c.1162+54G>A (n.1162+54G>A) c.*1926+54G>A (n.*1926+54G>A) c.1470+54G>A n.283+54G>A | gnomAD v4 |
| 15 | g.48441668C>G | CA2628334315 | FBN1 | c.6163+53G>C (n.6163+53G>C) c.1162+53G>C (n.1162+53G>C) c.*1926+53G>C (n.*1926+53G>C) c.1470+53G>C n.283+53G>C | gnomAD v4 |
| 15 | g.48441670C= | CA2175508510 | FBN1 | c.6163+51G= (n.6163+51G=) c.1162+51G= (n.1162+51G=) c.*1926+51G= (n.*1926+51G=) c.1470+51G= n.283+51G= | |
| 15 | g.48441670C>T | CA056330 | FBN1 | c.6163+51G>A (n.6163+51G>A) c.1162+51G>A (n.1162+51G>A) c.*1926+51G>A (n.*1926+51G>A) c.1470+51G>A n.283+51G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441671C= | CA2175508512 | FBN1 | c.6163+50G= (n.6163+50G=) c.1162+50G= (n.1162+50G=) c.*1926+50G= (n.*1926+50G=) c.1470+50G= n.283+50G= | |
| 15 | g.48441671C>T | CA10587200 | FBN1 | c.6163+50G>A (n.6163+50G>A) c.1162+50G>A (n.1162+50G>A) c.*1926+50G>A (n.*1926+50G>A) c.1470+50G>A n.283+50G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441673C= | CA2175508520 | FBN1 | c.6163+48G= (n.6163+48G=) c.1162+48G= (n.1162+48G=) c.*1926+48G= (n.*1926+48G=) c.1470+48G= n.283+48G= | |
| 15 | g.48441673C>G | CA056320 | FBN1 | c.6163+48G>C (n.6163+48G>C) c.1162+48G>C (n.1162+48G>C) c.*1926+48G>C (n.*1926+48G>C) c.1470+48G>C n.283+48G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441675A= | CA2175508523 | FBN1 | c.6163+46T= (n.6163+46T=) c.1162+46T= (n.1162+46T=) c.*1926+46T= (n.*1926+46T=) c.1470+46T= n.283+46T= | |
| 15 | g.48441675A>C | CA056312 | FBN1 | c.6163+46T>G (n.6163+46T>G) c.1162+46T>G (n.1162+46T>G) c.*1926+46T>G (n.*1926+46T>G) c.1470+46T>G n.283+46T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441675A>G | CA713401132 | FBN1 | c.6163+46T>C (n.6163+46T>C) c.1162+46T>C (n.1162+46T>C) c.*1926+46T>C (n.*1926+46T>C) c.1470+46T>C n.283+46T>C | dbSNP |
| 15 | g.48441676A>T | CA2575717056 | FBN1 | c.6163+45T>A (n.6163+45T>A) c.1162+45T>A (n.1162+45T>A) c.*1926+45T>A (n.*1926+45T>A) c.1470+45T>A n.283+45T>A | |
| 15 | g.48441677T>C | CA617836482 | FBN1 | c.6163+44A>G (n.6163+44A>G) c.1162+44A>G (n.1162+44A>G) c.*1926+44A>G (n.*1926+44A>G) c.1470+44A>G n.283+44A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441677T= | CA2175508525 | FBN1 | c.6163+44A= (n.6163+44A=) c.1162+44A= (n.1162+44A=) c.*1926+44A= (n.*1926+44A=) c.1470+44A= n.283+44A= | |
| 15 | g.48441681C= | CA2175508528 | FBN1 | c.6163+40G= (n.6163+40G=) c.1162+40G= (n.1162+40G=) c.*1926+40G= (n.*1926+40G=) c.1470+40G= n.283+40G= | |
| 15 | g.48441681C>T | CA056303 | FBN1 | c.6163+40G>A (n.6163+40G>A) c.1162+40G>A (n.1162+40G>A) c.*1926+40G>A (n.*1926+40G>A) c.1470+40G>A n.283+40G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441683T>C | CA617836483 | FBN1 | c.6163+38A>G (n.6163+38A>G) c.1162+38A>G (n.1162+38A>G) c.*1926+38A>G (n.*1926+38A>G) c.1470+38A>G n.283+38A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441683T= | CA2175508532 | FBN1 | c.6163+38A= (n.6163+38A=) c.1162+38A= (n.1162+38A=) c.*1926+38A= (n.*1926+38A=) c.1470+38A= n.283+38A= | |
| 15 | g.48441685C= | CA2175508536 | FBN1 | c.6163+36G= (n.6163+36G=) c.1162+36G= (n.1162+36G=) c.*1926+36G= (n.*1926+36G=) c.1470+36G= n.283+36G= | |
| 15 | g.48441685C>T | CA969549020 | FBN1 | c.6163+36G>A (n.6163+36G>A) c.1162+36G>A (n.1162+36G>A) c.*1926+36G>A (n.*1926+36G>A) c.1470+36G>A n.283+36G>A | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48441687G= | CA2175508538 | FBN1 | c.6163+34C= (n.6163+34C=) c.1162+34C= (n.1162+34C=) c.*1926+34C= (n.*1926+34C=) c.1470+34C= n.283+34C= | |
| 15 | g.48441687G>T | CA713401136 | FBN1 | c.6163+34C>A (n.6163+34C>A) c.1162+34C>A (n.1162+34C>A) c.*1926+34C>A (n.*1926+34C>A) c.1470+34C>A n.283+34C>A | dbSNP |
| 15 | g.48441688C= | CA2175508540 | FBN1 | c.6163+33G= (n.6163+33G=) c.1162+33G= (n.1162+33G=) c.*1926+33G= (n.*1926+33G=) c.1470+33G= n.283+33G= | |
| 15 | g.48441688C>T | CA617836485 | FBN1 | c.6163+33G>A (n.6163+33G>A) c.1162+33G>A (n.1162+33G>A) c.*1926+33G>A (n.*1926+33G>A) c.1470+33G>A n.283+33G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441690T>C | CA056297 | FBN1 | c.6163+31A>G (n.6163+31A>G) c.1162+31A>G (n.1162+31A>G) c.*1926+31A>G (n.*1926+31A>G) c.1470+31A>G n.283+31A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441690T= | CA2175508541 | FBN1 | c.6163+31A= (n.6163+31A=) c.1162+31A= (n.1162+31A=) c.*1926+31A= (n.*1926+31A=) c.1470+31A= n.283+31A= | |
| 15 | g.48441692G>A | CA056292 | FBN1 | c.6163+29C>T (n.6163+29C>T) c.1162+29C>T (n.1162+29C>T) c.*1926+29C>T (n.*1926+29C>T) c.1470+29C>T n.283+29C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441692G>C | CA713401143 | FBN1 | c.6163+29C>G (n.6163+29C>G) c.1162+29C>G (n.1162+29C>G) c.*1926+29C>G (n.*1926+29C>G) c.1470+29C>G n.283+29C>G | dbSNP gnomAD v4 |
| 15 | g.48441692G= | CA2175508543 | FBN1 | c.6163+29C= (n.6163+29C=) c.1162+29C= (n.1162+29C=) c.*1926+29C= (n.*1926+29C=) c.1470+29C= n.283+29C= | |
| 15 | g.48441695A= | CA2175508548 | FBN1 | c.6163+26T= (n.6163+26T=) c.1162+26T= (n.1162+26T=) c.*1926+26T= (n.*1926+26T=) c.1470+26T= n.283+26T= | |
| 15 | g.48441695A>C | CA269530648 | FBN1 | c.6163+26T>G (n.6163+26T>G) c.1162+26T>G (n.1162+26T>G) c.*1926+26T>G (n.*1926+26T>G) c.1470+26T>G n.283+26T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441696G>C | CA2628334326 | FBN1 | c.6163+25C>G (n.6163+25C>G) c.1162+25C>G (n.1162+25C>G) c.*1926+25C>G (n.*1926+25C>G) c.1470+25C>G n.283+25C>G | gnomAD v4 |
| 15 | g.48441698C>T | CA2628334327 | FBN1 | c.6163+23G>A (n.6163+23G>A) c.1162+23G>A (n.1162+23G>A) c.*1926+23G>A (n.*1926+23G>A) c.1470+23G>A n.283+23G>A | gnomAD v4 |
| 15 | g.48441702del | CA2628334328 | FBN1 | c.6163+21del (n.6163+21del) c.1162+21del (n.1162+21del) c.*1926+21del (n.*1926+21del) c.1470+21del n.283+21del | gnomAD v4 |
| 15 | g.48441703G>A | CA713401145 | FBN1 | c.6163+18C>T (n.6163+18C>T) c.1162+18C>T (n.1162+18C>T) c.*1926+18C>T (n.*1926+18C>T) c.1470+18C>T n.283+18C>T | dbSNP |
| 15 | g.48441703G>C | CA617836489 | FBN1 | c.6163+18C>G (n.6163+18C>G) c.1162+18C>G (n.1162+18C>G) c.*1926+18C>G (n.*1926+18C>G) c.1470+18C>G n.283+18C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441703G= | CA2175508552 | FBN1 | c.6163+18C= (n.6163+18C=) c.1162+18C= (n.1162+18C=) c.*1926+18C= (n.*1926+18C=) c.1470+18C= n.283+18C= | |
| 15 | g.48441704C>A | CA713401160 | FBN1 | c.6163+17G>T (n.6163+17G>T) c.1162+17G>T (n.1162+17G>T) c.*1926+17G>T (n.*1926+17G>T) c.1470+17G>T n.283+17G>T | dbSNP |
| 15 | g.48441704C= | CA2175508556 | FBN1 | c.6163+17G= (n.6163+17G=) c.1162+17G= (n.1162+17G=) c.*1926+17G= (n.*1926+17G=) c.1470+17G= n.283+17G= | |
| 15 | g.48441704C>G | CA269530655 | FBN1 | c.6163+17G>C (n.6163+17G>C) c.1162+17G>C (n.1162+17G>C) c.*1926+17G>C (n.*1926+17G>C) c.1470+17G>C n.283+17G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441709A>G | CA2628334336 | FBN1 | c.6163+12T>C (n.6163+12T>C) c.1162+12T>C (n.1162+12T>C) c.*1926+12T>C (n.*1926+12T>C) c.1470+12T>C n.283+12T>C | gnomAD v4 |
| 15 | g.48441710A= | CA2175508559 | FBN1 | c.6163+11T= (n.6163+11T=) c.1162+11T= (n.1162+11T=) c.*1926+11T= (n.*1926+11T=) c.1470+11T= n.283+11T= | |
| 15 | g.48441710A>C | CA713401161 | FBN1 | c.6163+11T>G (n.6163+11T>G) c.1162+11T>G (n.1162+11T>G) c.*1926+11T>G (n.*1926+11T>G) c.1470+11T>G n.283+11T>G | dbSNP |
| 15 | g.48441710A>G | CA914002823 | FBN1 | c.6163+11T>C (n.6163+11T>C) c.1162+11T>C (n.1162+11T>C) c.*1926+11T>C (n.*1926+11T>C) c.1470+11T>C n.283+11T>C | gnomAD v2 gnomAD v4 |
| 15 | g.48441712G>C | CA056343 | FBN1 | c.6163+9C>G (n.6163+9C>G) c.1162+9C>G (n.1162+9C>G) c.*1926+9C>G (n.*1926+9C>G) c.1470+9C>G n.283+9C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441712G= | CA2175508561 | FBN1 | c.6163+9C= (n.6163+9C=) c.1162+9C= (n.1162+9C=) c.*1926+9C= (n.*1926+9C=) c.1470+9C= n.283+9C= | |
| 15 | g.48441712G>T | CA645584724 | FBN1 | c.6163+9C>A (n.6163+9C>A) c.1162+9C>A (n.1162+9C>A) c.*1926+9C>A (n.*1926+9C>A) c.1470+9C>A n.283+9C>A | dbSNP COSMIC |
| 15 | g.48441713A= | CA2175508565 | FBN1 | c.6163+8T= (n.6163+8T=) c.1162+8T= (n.1162+8T=) c.*1926+8T= (n.*1926+8T=) c.1470+8T= n.283+8T= | |
| 15 | g.48441713A>C | CA617836490 | FBN1 | c.6163+8T>G (n.6163+8T>G) c.1162+8T>G (n.1162+8T>G) c.*1926+8T>G (n.*1926+8T>G) c.1470+8T>G n.283+8T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441715_48441720del | CA2695220184 | FBN1 | c.6163+3_6163+8del (n.6163+3_6163+8del) c.1162+3_1162+8del (n.1162+3_1162+8del) c.*1926+3_*1926+8del (n.*1926+3_*1926+8del) c.1470+3_1470+8del n.283+3_283+8del | |
| 15 | g.48441714C>T | CA2570387951 | FBN1 | c.6163+7G>A (n.6163+7G>A) c.1162+7G>A (n.1162+7G>A) c.*1926+7G>A (n.*1926+7G>A) c.1470+7G>A n.283+7G>A | |
| 15 | g.48441717_48441720del | CA2695220186 | FBN1 | c.6163+3_6163+6del (n.6163+3_6163+6del) c.1162+3_1162+6del (n.1162+3_1162+6del) c.*1926+3_*1926+6del (n.*1926+3_*1926+6del) c.1470+3_1470+6del n.283+3_283+6del | |
| 15 | g.48441717T>G | CA2499222977 | FBN1 | c.6163+4A>C (n.6163+4A>C) c.1162+4A>C (n.1162+4A>C) c.*1926+4A>C (n.*1926+4A>C) c.1470+4A>C n.283+4A>C | ClinVar dbSNP |
| 15 | g.48441718T= | CA2175508568 | FBN1 | c.6163+3A= (n.6163+3A=) c.1162+3A= (n.1162+3A=) c.*1926+3A= (n.*1926+3A=) c.1470+3A= n.283+3A= | |
| 15 | g.48441719A>C | CA392337846 | FBN1 | c.6163+2T>G (n.6163+2T>G) c.1162+2T>G (n.1162+2T>G) c.*1926+2T>G (n.*1926+2T>G) c.1470+2T>G n.283+2T>G | |
| 15 | g.48441719A>G | CA392337844 | FBN1 | c.6163+2T>C (n.6163+2T>C) c.1162+2T>C (n.1162+2T>C) c.*1926+2T>C (n.*1926+2T>C) c.1470+2T>C n.283+2T>C | |
| 15 | g.48441719A>T | CA392337845 | FBN1 | c.6163+2T>A (n.6163+2T>A) c.1162+2T>A (n.1162+2T>A) c.*1926+2T>A (n.*1926+2T>A) c.1470+2T>A n.283+2T>A | gnomAD v4 |
| 15 | g.48441719dup | CA304350 | FBN1 | c.6163+2dup (n.6163+2dup) c.1162+2dup (n.1162+2dup) c.*1926+2dup (n.*1926+2dup) c.1470+2dup n.283+2dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441719_48441720del | CA2740096627 | FBN1 | c.6163+1_6163+2del (n.6163+1_6163+2del) c.1162+1_1162+2del (n.1162+1_1162+2del) c.*1926+1_*1926+2del (n.*1926+1_*1926+2del) c.1470+1_1470+2del n.283+1_283+2del | ClinVar |
| 15 | g.48441724_48441731del | CA913203390 | FBN1 | c.6158_6163+2del c.1157_1162+2del c.*1921_*1926+2del c.1465_1470+2del n.278_283+2del | |
| 15 | g.48441720C>A | CA392337852 | FBN1 | c.6163+1G>T (n.6163+1G>T) c.1162+1G>T (n.1162+1G>T) c.*1926+1G>T (n.*1926+1G>T) c.1470+1G>T n.283+1G>T | |
| 15 | g.48441720C= | CA2175508579 | FBN1 | c.6163+1G= (n.6163+1G=) c.1162+1G= (n.1162+1G=) c.*1926+1G= (n.*1926+1G=) c.1470+1G= n.283+1G= | |
| 15 | g.48441720C>G | CA392337855 | FBN1 | c.6163+1G>C (n.6163+1G>C) c.1162+1G>C (n.1162+1G>C) c.*1926+1G>C (n.*1926+1G>C) c.1470+1G>C n.283+1G>C | |
| 15 | g.48441720C>T | CA392337857 | FBN1 | c.6163+1G>A (n.6163+1G>A) c.1162+1G>A (n.1162+1G>A) c.*1926+1G>A (n.*1926+1G>A) c.1470+1G>A n.283+1G>A | ClinVar dbSNP |
| 15 | g.48441721del | CA2695220188 | FBN1 | c.6163+1del c.1162+1del c.*1926+1del c.1470+1del n.283+1del | |
| 15 | g.48441720_48441846delinsCCTTGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATAT | CA2175508586 | FBN1 | c.6038_6163+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1037_1162+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.*1801_*1926+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG c.1345_1470+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG n.158_283+1delinsATATTGATGAGTGTGTCGAAGAGCCAGAAATTTGTGCCCTGGGCACATGCAGTAACACTGAAGGCAGCTTCAAATGTCTGTGTCCAGAAGGGTTTTCCTTGTCCTCCAGTGGAAGAAGGTGCCAAGG | |
| 15 | g.48441721C>A | CA392337862 | FBN1 | c.6163G>T (p.Asp2055Tyr) c.1162G>T (p.Asp388Tyr) c.*1926G>T (n.*1926G>T) c.1470G>T n.283G>T | |
| 15 | g.48441721C>G | CA392337865 | FBN1 | c.6163G>C (p.Asp2055His) c.1162G>C (p.Asp388His) c.*1926G>C (n.*1926G>C) c.1470G>C n.283G>C | |
| 15 | g.48441721C>T | CA392337867 | FBN1 | c.6163G>A (p.Asp2055Asn) c.1162G>A (p.Asp388Asn) c.*1926G>A (n.*1926G>A) c.1470G>A n.283G>A | |
| 15 | g.48441723_48441848del | CA658824940 | FBN1 | c.6038_6163del c.1037_1162del c.*1801_*1926del c.1345_1470del n.158_283del | ClinVar dbSNP |
| 15 | g.48441722T>A | CA392337869 | FBN1 | c.6162A>T (p.Gln2054His) c.1161A>T (p.Gln387His) c.*1925A>T (n.*1925A>T) c.1469A>T n.282A>T | |
| 15 | g.48441722T>C | CA490021242 | FBN1 | c.6162A>G (p.Gln2054=) c.1161A>G (p.Gln387=) c.*1925A>G (n.*1925A>G) c.1469A>G n.282A>G | ClinVar |
| 15 | g.48441722T>G | CA392337872 | FBN1 | c.6162A>C (p.Gln2054His) c.1161A>C (p.Gln387His) c.*1925A>C (n.*1925A>C) c.1469A>C n.282A>C | |
| 15 | g.48441723T>A | CA392337876 | FBN1 | c.6161A>T (p.Gln2054Leu) c.1160A>T (p.Gln387Leu) c.*1924A>T (n.*1924A>T) c.1468A>T n.281A>T | |
| 15 | g.48441723T>C | CA392337877 | FBN1 | c.6161A>G (p.Gln2054Arg) c.1160A>G (p.Gln387Arg) c.*1924A>G (n.*1924A>G) c.1468A>G n.281A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441723T>G | CA392337881 | FBN1 | c.6161A>C (p.Gln2054Pro) c.1160A>C (p.Gln387Pro) c.*1924A>C (n.*1924A>C) c.1468A>C n.281A>C | |
| 15 | g.48441723T= | CA2175508593 | FBN1 | c.6161A= (p.Gln2054=) c.1160A= (p.Gln387=) c.*1924A= (n.*1924A=) c.1468A= n.281A= | |
| 15 | g.48441724G>A | CA392337890 | FBN1 | c.6160C>T (p.Gln2054Ter) c.1159C>T (p.Gln387Ter) c.*1923C>T (n.*1923C>T) c.1467C>T n.280C>T | ClinVar dbSNP |
| 15 | g.48441724G>C | CA392337886 | FBN1 | c.6160C>G (p.Gln2054Glu) c.1159C>G (p.Gln387Glu) c.*1923C>G (n.*1923C>G) c.1467C>G n.280C>G | |
| 15 | g.48441724G= | CA2175508600 | FBN1 | c.6160C= (p.Gln2054=) c.1159C= (p.Gln387=) c.*1923C= (n.*1923C=) c.1467C= n.280C= | |
| 15 | g.48441724G>T | CA392337884 | FBN1 | c.6160C>A (p.Gln2054Lys) c.1159C>A (p.Gln387Lys) c.*1923C>A (n.*1923C>A) c.1467C>A n.280C>A | |
| 15 | g.48441725G>A | CA490021256 | FBN1 | c.6159C>T (p.Cys2053=) c.1158C>T (p.Cys386=) c.*1922C>T (n.*1922C>T) c.1466C>T n.279C>T | |
| 15 | g.48441725G>C | CA392337894 | FBN1 | c.6159C>G (p.Cys2053Trp) c.1158C>G (p.Cys386Trp) c.*1922C>G (n.*1922C>G) c.1466C>G n.279C>G | |
| 15 | g.48441725G= | CA2175508607 | FBN1 | c.6159C= (p.Cys2053=) c.1158C= (p.Cys386=) c.*1922C= (n.*1922C=) c.1466C= n.279C= | |
| 15 | g.48441725G>T | CA16614635 | FBN1 | c.6159C>A (p.Cys2053Ter) c.1158C>A (p.Cys386Ter) c.*1922C>A (n.*1922C>A) c.1466C>A n.279C>A | ClinVar dbSNP |
| 15 | g.48441726C>A | CA269530687 | FBN1 | c.6158G>T (p.Cys2053Phe) c.1157G>T (p.Cys386Phe) c.*1921G>T (n.*1921G>T) c.1465G>T n.278G>T | dbSNP |
| 15 | g.48441726C= | CA2175508618 | FBN1 | c.6158G= (p.Cys2053=) c.1157G= (p.Cys386=) c.*1921G= (n.*1921G=) c.1465G= n.278G= | |
| 15 | g.48441726C>G | CA392337900 | FBN1 | c.6158G>C (p.Cys2053Ser) c.1157G>C (p.Cys386Ser) c.*1921G>C (n.*1921G>C) c.1465G>C n.278G>C | |
| 15 | g.48441726C>T | CA392337901 | FBN1 | c.6158G>A (p.Cys2053Tyr) c.1157G>A (p.Cys386Tyr) c.*1921G>A (n.*1921G>A) c.1465G>A n.278G>A | ClinVar dbSNP |
| 15 | g.48441727A>C | CA392337903 | FBN1 | c.6157T>G (p.Cys2053Gly) c.1156T>G (p.Cys386Gly) c.*1920T>G (n.*1920T>G) c.1464T>G n.277T>G | |
| 15 | g.48441727A>G | CA392337905 | FBN1 | c.6157T>C (p.Cys2053Arg) c.1156T>C (p.Cys386Arg) c.*1920T>C (n.*1920T>C) c.1464T>C n.277T>C | |
| 15 | g.48441727A>T | CA392337917 | FBN1 | c.6157T>A (p.Cys2053Ser) c.1156T>A (p.Cys386Ser) c.*1920T>A (n.*1920T>A) c.1464T>A n.277T>A | ClinVar |
| 15 | g.48441728C>A | CA392337921 | FBN1 | c.6156G>T (p.Arg2052Ser) c.1155G>T (p.Arg385Ser) c.*1919G>T (n.*1919G>T) c.1463G>T n.276G>T | |
| 15 | g.48441728C>G | CA392337923 | FBN1 | c.6156G>C (p.Arg2052Ser) c.1155G>C (p.Arg385Ser) c.*1919G>C (n.*1919G>C) c.1463G>C n.276G>C | |
| 15 | g.48441728C>T | CA490021289 | FBN1 | c.6156G>A (p.Arg2052=) c.1155G>A (p.Arg385=) c.*1919G>A (n.*1919G>A) c.1463G>A n.276G>A | ClinVar |
| 15 | g.48441729C>A | CA392337926 | FBN1 | c.6155G>T (p.Arg2052Met) c.1154G>T (p.Arg385Met) c.*1918G>T (n.*1918G>T) c.1462G>T n.275G>T | |
| 15 | g.48441729C= | CA2175508624 | FBN1 | c.6155G= (p.Arg2052=) c.1154G= (p.Arg385=) c.*1918G= (n.*1918G=) c.1462G= n.275G= | |
| 15 | g.48441729C>G | CA392337929 | FBN1 | c.6155G>C (p.Arg2052Thr) c.1154G>C (p.Arg385Thr) c.*1918G>C (n.*1918G>C) c.1462G>C n.275G>C | |
| 15 | g.48441729C>T | CA392337932 | FBN1 | c.6155G>A (p.Arg2052Lys) c.1154G>A (p.Arg385Lys) c.*1918G>A (n.*1918G>A) c.1462G>A n.275G>A | dbSNP gnomAD v2 |
| 15 | g.48441730T>A | CA392337939 | FBN1 | c.6154A>T (p.Arg2052Trp) c.1153A>T (p.Arg385Trp) c.*1917A>T (n.*1917A>T) c.1461A>T n.274A>T | |
| 15 | g.48441730T>C | CA392337937 | FBN1 | c.6154A>G (p.Arg2052Gly) c.1153A>G (p.Arg385Gly) c.*1917A>G (n.*1917A>G) c.1461A>G n.274A>G | |
| 15 | g.48441730T>G | CA490021299 | FBN1 | c.6154A>C (p.Arg2052=) c.1153A>C (p.Arg385=) c.*1917A>C (n.*1917A>C) c.1461A>C n.274A>C | |
| 15 | g.48441731T>A | CA392337943 | FBN1 | c.6153A>T (p.Arg2051Ser) c.1152A>T (p.Arg384Ser) c.*1916A>T (n.*1916A>T) c.1460A>T n.273A>T | |
| 15 | g.48441731T>C | CA490021307 | FBN1 | c.6153A>G (p.Arg2051=) c.1152A>G (p.Arg384=) c.*1916A>G (n.*1916A>G) c.1460A>G n.273A>G | |
| 15 | g.48441731T>G | CA392337946 | FBN1 | c.6153A>C (p.Arg2051Ser) c.1152A>C (p.Arg384Ser) c.*1916A>C (n.*1916A>C) c.1460A>C n.273A>C | |
| 15 | g.48441732C>A | CA392337950 | FBN1 | c.6152G>T (p.Arg2051Ile) c.1151G>T (p.Arg384Ile) c.*1915G>T (n.*1915G>T) c.1459G>T n.272G>T | |
| 15 | g.48441732C>G | CA392337952 | FBN1 | c.6152G>C (p.Arg2051Thr) c.1151G>C (p.Arg384Thr) c.*1915G>C (n.*1915G>C) c.1459G>C n.272G>C | |
| 15 | g.48441732C>T | CA392337956 | FBN1 | c.6152G>A (p.Arg2051Lys) c.1151G>A (p.Arg384Lys) c.*1915G>A (n.*1915G>A) c.1459G>A n.272G>A | COSMIC |
| 15 | g.48441733T>A | CA392337958 | FBN1 | c.6151A>T (p.Arg2051Ter) c.1150A>T (p.Arg384Ter) c.*1914A>T (n.*1914A>T) c.1458A>T n.271A>T | ClinVar |
| 15 | g.48441733T>C | CA392337960 | FBN1 | c.6151A>G (p.Arg2051Gly) c.1150A>G (p.Arg384Gly) c.*1914A>G (n.*1914A>G) c.1458A>G n.271A>G | |
| 15 | g.48441733T>G | CA490021325 | FBN1 | c.6151A>C (p.Arg2051=) c.1150A>C (p.Arg384=) c.*1914A>C (n.*1914A>C) c.1458A>C n.271A>C | |
| 15 | g.48441734dup | CA2580089652 | FBN1 | c.6151dup (p.Arg2051LysfsTer16) c.1150dup (p.Arg384LysfsTer16) c.*1914dup (n.*1914dup) c.1458dup n.271dup | ClinVar |
| 15 | g.48441734del | CA2695220192 | FBN1 | c.6151del (p.Arg2051GlufsTer8) c.1150del (p.Arg384GlufsTer8) c.*1914del (n.*1914del) c.1458del n.271del | |
| 15 | g.48441733_48441738delinsTTCCAC | CA2175508629 | FBN1 | c.6146_6151delinsGTGGAA (p.Ser2049=) c.1145_1150delinsGTGGAA (p.Ser382=) c.*1909_*1914delinsGTGGAA (n.*1909_*1914delinsGTGGAA) c.1453_1458delinsGTGGAA n.266_271delinsGTGGAA | |
| 15 | g.48441734T>A | CA490021328 | FBN1 | c.6150A>T (p.Gly2050=) c.1149A>T (p.Gly383=) c.*1913A>T (n.*1913A>T) c.1457A>T n.270A>T | |
| 15 | g.48441734T>C | CA490021331 | FBN1 | c.6150A>G (p.Gly2050=) c.1149A>G (p.Gly383=) c.*1913A>G (n.*1913A>G) c.1457A>G n.270A>G | |
| 15 | g.48441734T>G | CA490021332 | FBN1 | c.6150A>C (p.Gly2050=) c.1149A>C (p.Gly383=) c.*1913A>C (n.*1913A>C) c.1457A>C n.270A>C | gnomAD v4 |
| 15 | g.48441734_48441735delinsTC | CA2175508634 | FBN1 | c.6149_6150delinsGA (p.Gly2050=) c.1148_1149delinsGA (p.Gly383=) c.*1912_*1913delinsGA (n.*1912_*1913delinsGA) c.1456_1457delinsGA n.269_270delinsGA | |
| 15 | g.48441735_48441739del | CA658798331 | FBN1 | c.6146_6150del (p.Ser2049LysfsTer16) c.1145_1149del (p.Ser382LysfsTer16) c.*1909_*1913del (n.*1909_*1913del) c.1453_1457del n.266_270del | ClinVar dbSNP |
| 15 | g.48441735C>A | CA392337966 | FBN1 | c.6149G>T (p.Gly2050Val) c.1148G>T (p.Gly383Val) c.*1912G>T (n.*1912G>T) c.1456G>T n.269G>T | |
| 15 | g.48441735C>G | CA392337968 | FBN1 | c.6149G>C (p.Gly2050Ala) c.1148G>C (p.Gly383Ala) c.*1912G>C (n.*1912G>C) c.1456G>C n.269G>C | |
| 15 | g.48441735C>T | CA392337971 | FBN1 | c.6149G>A (p.Gly2050Glu) c.1148G>A (p.Gly383Glu) c.*1912G>A (n.*1912G>A) c.1456G>A n.269G>A | |
| 15 | g.48441736del | CA915946650 | FBN1 | c.6149del (p.Gly2050GlufsTer9) c.1148del (p.Gly383GlufsTer9) c.*1912del (n.*1912del) c.1456del n.269del | ClinVar dbSNP |
| 15 | g.48441736C>A | CA392337975 | FBN1 | c.6148G>T (p.Gly2050Ter) c.1147G>T (p.Gly383Ter) c.*1911G>T (n.*1911G>T) c.1455G>T n.268G>T | |
| 15 | g.48441736C>G | CA392337980 | FBN1 | c.6148G>C (p.Gly2050Arg) c.1147G>C (p.Gly383Arg) c.*1911G>C (n.*1911G>C) c.1455G>C n.268G>C | |
| 15 | g.48441736C>T | CA392337982 | FBN1 | c.6148G>A (p.Gly2050Arg) c.1147G>A (p.Gly383Arg) c.*1911G>A (n.*1911G>A) c.1455G>A n.268G>A | |
| 15 | g.48441737A= | CA2175508651 | FBN1 | c.6147T= (p.Ser2049=) c.1146T= (p.Ser382=) c.*1910T= (n.*1910T=) c.1454T= n.267T= | |
| 15 | g.48441737A>C | CA392337990 | FBN1 | c.6147T>G (p.Ser2049Arg) c.1146T>G (p.Ser382Arg) c.*1910T>G (n.*1910T>G) c.1454T>G n.267T>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48441737A>G | CA056289 | FBN1 | c.6147T>C (p.Ser2049=) c.1146T>C (p.Ser382=) c.*1910T>C (n.*1910T>C) c.1454T>C n.267T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441737A>T | CA269530690 | FBN1 | c.6147T>A (p.Ser2049Arg) c.1146T>A (p.Ser382Arg) c.*1910T>A (n.*1910T>A) c.1454T>A n.267T>A | ClinVar dbSNP |
| 15 | g.48441738C>A | CA392337998 | FBN1 | c.6146G>T (p.Ser2049Ile) c.1145G>T (p.Ser382Ile) c.*1909G>T (n.*1909G>T) c.1453G>T n.266G>T | |
| 15 | g.48441738C>G | CA392337995 | FBN1 | c.6146G>C (p.Ser2049Thr) c.1145G>C (p.Ser382Thr) c.*1909G>C (n.*1909G>C) c.1453G>C n.266G>C | |
| 15 | g.48441738C>T | CA392338000 | FBN1 | c.6146G>A (p.Ser2049Asn) c.1145G>A (p.Ser382Asn) c.*1909G>A (n.*1909G>A) c.1453G>A n.266G>A | |
| 15 | g.48441739del | CA2740096628 | FBN1 | c.6145del (p.Ser2049ValfsTer10) c.1144del (p.Ser382ValfsTer10) c.*1908del (n.*1908del) c.1452del n.265del | ClinVar |
| 15 | g.48441739T>A | CA392338003 | FBN1 | c.6145A>T (p.Ser2049Cys) c.1144A>T (p.Ser382Cys) c.*1908A>T (n.*1908A>T) c.1452A>T n.265A>T | |
| 15 | g.48441739T>C | CA392338004 | FBN1 | c.6145A>G (p.Ser2049Gly) c.1144A>G (p.Ser382Gly) c.*1908A>G (n.*1908A>G) c.1452A>G n.265A>G | ClinVar dbSNP |
| 15 | g.48441739T>G | CA392338005 | FBN1 | c.6145A>C (p.Ser2049Arg) c.1144A>C (p.Ser382Arg) c.*1908A>C (n.*1908A>C) c.1452A>C n.265A>C | ClinVar dbSNP |
| 15 | g.48441739T= | CA2175508661 | FBN1 | c.6145A= (p.Ser2049=) c.1144A= (p.Ser382=) c.*1908A= (n.*1908A=) c.1452A= n.265A= | |
| 15 | g.48441740G>A | CA490021360 | FBN1 | c.6144C>T (p.Ser2048=) c.1143C>T (p.Ser381=) c.*1907C>T (n.*1907C>T) c.1451C>T n.264C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48441740G>C | CA490021356 | FBN1 | c.6144C>G (p.Ser2048=) c.1143C>G (p.Ser381=) c.*1907C>G (n.*1907C>G) c.1451C>G n.264C>G | |
| 15 | g.48441740G= | CA2175508665 | FBN1 | c.6144C= (p.Ser2048=) c.1143C= (p.Ser381=) c.*1907C= (n.*1907C=) c.1451C= n.264C= | |
| 15 | g.48441740G>T | CA490021355 | FBN1 | c.6144C>A (p.Ser2048=) c.1143C>A (p.Ser381=) c.*1907C>A (n.*1907C>A) c.1451C>A n.264C>A | |
| 15 | g.48441741G>A | CA392338006 | FBN1 | c.6143C>T (p.Ser2048Phe) c.1142C>T (p.Ser381Phe) c.*1906C>T (n.*1906C>T) c.1450C>T n.263C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441741G>C | CA392338008 | FBN1 | c.6143C>G (p.Ser2048Cys) c.1142C>G (p.Ser381Cys) c.*1906C>G (n.*1906C>G) c.1450C>G n.263C>G | |
| 15 | g.48441741G= | CA2175508670 | FBN1 | c.6143C= (p.Ser2048=) c.1142C= (p.Ser381=) c.*1906C= (n.*1906C=) c.1450C= n.263C= | |
| 15 | g.48441741G>T | CA392338010 | FBN1 | c.6143C>A (p.Ser2048Tyr) c.1142C>A (p.Ser381Tyr) c.*1906C>A (n.*1906C>A) c.1450C>A n.263C>A | |
| 15 | g.48441742A>C | CA392338020 | FBN1 | c.6142T>G (p.Ser2048Ala) c.1141T>G (p.Ser381Ala) c.*1905T>G (n.*1905T>G) c.1449T>G n.262T>G | |
| 15 | g.48441742A>G | CA392338022 | FBN1 | c.6142T>C (p.Ser2048Pro) c.1141T>C (p.Ser381Pro) c.*1905T>C (n.*1905T>C) c.1449T>C n.262T>C | |
| 15 | g.48441742A>T | CA392338024 | FBN1 | c.6142T>A (p.Ser2048Thr) c.1141T>A (p.Ser381Thr) c.*1905T>A (n.*1905T>A) c.1449T>A n.262T>A | |
| 15 | g.48441743G>A | CA490021385 | FBN1 | c.6141C>T (p.Ser2047=) c.1140C>T (p.Ser380=) c.*1904C>T (n.*1904C>T) c.1448C>T n.261C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441743G>C | CA490021390 | FBN1 | c.6141C>G (p.Ser2047=) c.1140C>G (p.Ser380=) c.*1904C>G (n.*1904C>G) c.1448C>G n.261C>G | |
| 15 | g.48441743G>T | CA490021388 | FBN1 | c.6141C>A (p.Ser2047=) c.1140C>A (p.Ser380=) c.*1904C>A (n.*1904C>A) c.1448C>A n.261C>A | |
| 15 | g.48441744G>A | CA16614801 | FBN1 | c.6140C>T (p.Ser2047Phe) c.1139C>T (p.Ser380Phe) c.*1903C>T (n.*1903C>T) c.1447C>T n.260C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.48441744G>C | CA392338027 | FBN1 | c.6140C>G (p.Ser2047Cys) c.1139C>G (p.Ser380Cys) c.*1903C>G (n.*1903C>G) c.1447C>G n.260C>G | |
| 15 | g.48441744G= | CA2175508684 | FBN1 | c.6140C= (p.Ser2047=) c.1139C= (p.Ser380=) c.*1903C= (n.*1903C=) c.1447C= n.260C= | |
| 15 | g.48441744G>T | CA392338030 | FBN1 | c.6140C>A (p.Ser2047Tyr) c.1139C>A (p.Ser380Tyr) c.*1903C>A (n.*1903C>A) c.1447C>A n.260C>A | |
| 15 | g.48441744_48441745delinsGA | CA2175508681 | FBN1 | c.6139_6140delinsTC (p.Ser2047=) c.1138_1139delinsTC (p.Ser380=) c.*1902_*1903delinsTC (n.*1902_*1903delinsTC) c.1446_1447delinsTC n.259_260delinsTC | |
| 15 | g.48441745del | CA916082413 | FBN1 | c.6139del (p.Ser2047ProfsTer12) c.1138del (p.Ser380ProfsTer12) c.*1902del (n.*1902del) c.1446del n.259del | ClinVar dbSNP |
| 15 | g.48441745A= | CA2175508699 | FBN1 | c.6139T= (p.Ser2047=) c.1138T= (p.Ser380=) c.*1902T= (n.*1902T=) c.1446T= n.259T= | |
| 15 | g.48441745A>C | CA392338036 | FBN1 | c.6139T>G (p.Ser2047Ala) c.1138T>G (p.Ser380Ala) c.*1902T>G (n.*1902T>G) c.1446T>G n.259T>G | |
| 15 | g.48441745A>G | CA392338032 | FBN1 | c.6139T>C (p.Ser2047Pro) c.1138T>C (p.Ser380Pro) c.*1902T>C (n.*1902T>C) c.1446T>C n.259T>C | ClinVar dbSNP COSMIC |
| 15 | g.48441745A>T | CA392338034 | FBN1 | c.6139T>A (p.Ser2047Thr) c.1138T>A (p.Ser380Thr) c.*1902T>A (n.*1902T>A) c.1446T>A n.259T>A | |
| 15 | g.48441746C>A | CA392338039 | FBN1 | c.6138G>T (p.Leu2046Phe) c.1137G>T (p.Leu379Phe) c.*1901G>T (n.*1901G>T) c.1445G>T n.258G>T | gnomAD v4 |
| 15 | g.48441746C>G | CA392338045 | FBN1 | c.6138G>C (p.Leu2046Phe) c.1137G>C (p.Leu379Phe) c.*1901G>C (n.*1901G>C) c.1445G>C n.258G>C | |
| 15 | g.48441746C>T | CA490021418 | FBN1 | c.6138G>A (p.Leu2046=) c.1137G>A (p.Leu379=) c.*1901G>A (n.*1901G>A) c.1445G>A n.258G>A | |
| 15 | g.48441747A>C | CA392338046 | FBN1 | c.6137T>G (p.Leu2046Trp) c.1136T>G (p.Leu379Trp) c.*1900T>G (n.*1900T>G) c.1444T>G n.257T>G | gnomAD v4 |
| 15 | g.48441747A>G | CA392338048 | FBN1 | c.6137T>C (p.Leu2046Ser) c.1136T>C (p.Leu379Ser) c.*1900T>C (n.*1900T>C) c.1444T>C n.257T>C | |
| 15 | g.48441747A>T | CA392338050 | FBN1 | c.6137T>A (p.Leu2046Ter) c.1136T>A (p.Leu379Ter) c.*1900T>A (n.*1900T>A) c.1444T>A n.257T>A | |
| 15 | g.48441748A= | CA2175508719 | FBN1 | c.6136T= (p.Leu2046=) c.1135T= (p.Leu379=) c.*1899T= (n.*1899T=) c.1443T= n.256T= | |
| 15 | g.48441748A>C | CA392338054 | FBN1 | c.6136T>G (p.Leu2046Val) c.1135T>G (p.Leu379Val) c.*1899T>G (n.*1899T>G) c.1443T>G n.256T>G | |
| 15 | g.48441748A>G | CA056281 | FBN1 | c.6136T>C (p.Leu2046=) c.1135T>C (p.Leu379=) c.*1899T>C (n.*1899T>C) c.1443T>C n.256T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.48441748A>T | CA392338057 | FBN1 | c.6136T>A (p.Leu2046Met) c.1135T>A (p.Leu379Met) c.*1899T>A (n.*1899T>A) c.1443T>A n.256T>A | |
| 15 | g.48441749G>A | CA490021441 | FBN1 | c.6135C>T (p.Ser2045=) c.1134C>T (p.Ser378=) c.*1898C>T (n.*1898C>T) c.1442C>T n.255C>T | dbSNP |
| 15 | g.48441749G>C | CA490021443 | FBN1 | c.6135C>G (p.Ser2045=) c.1134C>G (p.Ser378=) c.*1898C>G (n.*1898C>G) c.1442C>G n.255C>G | |
| 15 | g.48441749G= | CA2175508725 | FBN1 | c.6135C= (p.Ser2045=) c.1134C= (p.Ser378=) c.*1898C= (n.*1898C=) c.1442C= n.255C= | |
| 15 | g.48441749G>T | CA490021445 | FBN1 | c.6135C>A (p.Ser2045=) c.1134C>A (p.Ser378=) c.*1898C>A (n.*1898C>A) c.1442C>A n.255C>A | |
| 15 | g.48441750G>A | CA392338060 | FBN1 | c.6134C>T (p.Ser2045Phe) c.1133C>T (p.Ser378Phe) c.*1897C>T (n.*1897C>T) c.1441C>T n.254C>T | ClinVar dbSNP |
| 15 | g.48441750G>C | CA392338063 | FBN1 | c.6134C>G (p.Ser2045Cys) c.1133C>G (p.Ser378Cys) c.*1897C>G (n.*1897C>G) c.1441C>G n.254C>G | |
| 15 | g.48441750G= | CA2175508731 | FBN1 | c.6134C= (p.Ser2045=) c.1133C= (p.Ser378=) c.*1897C= (n.*1897C=) c.1441C= n.254C= | |
| 15 | g.48441750G>T | CA392338065 | FBN1 | c.6134C>A (p.Ser2045Tyr) c.1133C>A (p.Ser378Tyr) c.*1897C>A (n.*1897C>A) c.1441C>A n.254C>A | |
| 15 | g.48441751A>C | CA392338071 | FBN1 | c.6133T>G (p.Ser2045Ala) c.1132T>G (p.Ser378Ala) c.*1896T>G (n.*1896T>G) c.1440T>G n.253T>G | |
| 15 | g.48441751A>G | CA392338072 | FBN1 | c.6133T>C (p.Ser2045Pro) c.1132T>C (p.Ser378Pro) c.*1896T>C (n.*1896T>C) c.1440T>C n.253T>C | gnomAD v4 |
| 15 | g.48441751A>T | CA392338069 | FBN1 | c.6133T>A (p.Ser2045Thr) c.1132T>A (p.Ser378Thr) c.*1896T>A (n.*1896T>A) c.1440T>A n.253T>A | |
| 15 | g.48441752A>C | CA392338077 | FBN1 | c.6132T>G (p.Phe2044Leu) c.1131T>G (p.Phe377Leu) c.*1895T>G (n.*1895T>G) c.1439T>G n.252T>G | |
| 15 | g.48441752A>G | CA490021468 | FBN1 | c.6132T>C (p.Phe2044=) c.1131T>C (p.Phe377=) c.*1895T>C (n.*1895T>C) c.1439T>C n.252T>C | gnomAD v4 |
| 15 | g.48441752A>T | CA392338080 | FBN1 | c.6132T>A (p.Phe2044Leu) c.1131T>A (p.Phe377Leu) c.*1895T>A (n.*1895T>A) c.1439T>A n.252T>A | |
| 15 | g.48441753A>C | CA392338082 | FBN1 | c.6131T>G (p.Phe2044Cys) c.1130T>G (p.Phe377Cys) c.*1894T>G (n.*1894T>G) c.1438T>G n.251T>G | |
| 15 | g.48441753A>G | CA392338084 | FBN1 | c.6131T>C (p.Phe2044Ser) c.1130T>C (p.Phe377Ser) c.*1894T>C (n.*1894T>C) c.1438T>C n.251T>C | |
| 15 | g.48441753A>T | CA392338087 | FBN1 | c.6131T>A (p.Phe2044Tyr) c.1130T>A (p.Phe377Tyr) c.*1894T>A (n.*1894T>A) c.1438T>A n.251T>A | |
| 15 | g.48441753_48441763delinsAACCCTTCTGG | CA2175508738 | FBN1 | c.6121_6131delinsCCAGAAGGGTT (p.Pro2041=) c.1120_1130delinsCCAGAAGGGTT (p.Pro374=) c.*1884_*1894delinsCCAGAAGGGTT (n.*1884_*1894delinsCCAGAAGGGTT) c.1428_1438delinsCCAGAAGGGTT n.241_251delinsCCAGAAGGGTT | |
| 15 | g.48441754A= | CA2175508752 | FBN1 | c.6130T= (p.Phe2044=) c.1129T= (p.Phe377=) c.*1893T= (n.*1893T=) c.1437T= n.250T= | |
| 15 | g.48441754A>C | CA392338092 | FBN1 | c.6130T>G (p.Phe2044Val) c.1129T>G (p.Phe377Val) c.*1893T>G (n.*1893T>G) c.1437T>G n.250T>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48441754A>G | CA392338094 | FBN1 | c.6130T>C (p.Phe2044Leu) c.1129T>C (p.Phe377Leu) c.*1893T>C (n.*1893T>C) c.1437T>C n.250T>C | |
| 15 | g.48441754A>T | CA392338097 | FBN1 | c.6130T>A (p.Phe2044Ile) c.1129T>A (p.Phe377Ile) c.*1893T>A (n.*1893T>A) c.1437T>A n.250T>A | |
| 15 | g.48441754_48441755delinsAC | CA2175508749 | FBN1 | c.6129_6130delinsGT (p.Gly2043=) c.1128_1129delinsGT (p.Gly376=) c.*1892_*1893delinsGT (n.*1892_*1893delinsGT) c.1436_1437delinsGT n.249_250delinsGT | |
| 15 | g.48441756_48441765del | CA916082414 | FBN1 | c.6121_6130del (p.Pro2041PhefsTer15) c.1120_1129del (p.Pro374PhefsTer15) c.*1884_*1893del (n.*1884_*1893del) c.1428_1437del n.241_250del | ClinVar dbSNP |