| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335158_128335161delinsTATG | CA1581269462 | FBN2 | n.757+9_757+12delinsCATA n.838+9_838+12delinsCATA c.3973+9_3973+12delinsCATA (n.3973+9_3973+12delinsCATA) c.523+9_523+12delinsCATA (n.523+9_523+12delinsCATA) c.3874+9_3874+12delinsCATA (n.3874+9_3874+12delinsCATA) c.3970+9_3970+12delinsCATA (n.3970+9_3970+12delinsCATA) c.3820+9_3820+12delinsCATA (n.3820+9_3820+12delinsCATA) | |
| 5 | g.128335161_128335163del | CA3395094 | FBN2 | n.757+9_757+11del n.838+9_838+11del c.3973+9_3973+11del (n.3973+9_3973+11del) c.523+9_523+11del (n.523+9_523+11del) c.3874+9_3874+11del (n.3874+9_3874+11del) c.3970+9_3970+11del (n.3970+9_3970+11del) c.3820+9_3820+11del (n.3820+9_3820+11del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335160T>C | CA2675117072 | FBN2 | n.757+10A>G n.838+10A>G c.3973+10A>G (n.3973+10A>G) c.523+10A>G (n.523+10A>G) c.3874+10A>G (n.3874+10A>G) c.3970+10A>G (n.3970+10A>G) c.3820+10A>G (n.3820+10A>G) | gnomAD v4 |
| 5 | g.128335161G>A | CA803636550 | FBN2 | n.757+9C>T n.838+9C>T c.3973+9C>T (n.3973+9C>T) c.523+9C>T (n.523+9C>T) c.3874+9C>T (n.3874+9C>T) c.3970+9C>T (n.3970+9C>T) c.3820+9C>T (n.3820+9C>T) | dbSNP |
| 5 | g.128335161G= | CA1581269466 | FBN2 | n.757+9C= n.838+9C= c.3973+9C= (n.3973+9C=) c.523+9C= (n.523+9C=) c.3874+9C= (n.3874+9C=) c.3970+9C= (n.3970+9C=) c.3820+9C= (n.3820+9C=) | |
| 5 | g.128335163T>C | CA127008412 | FBN2 | n.757+7A>G n.838+7A>G c.3973+7A>G (n.3973+7A>G) c.523+7A>G (n.523+7A>G) c.3874+7A>G (n.3874+7A>G) c.3970+7A>G (n.3970+7A>G) c.3820+7A>G (n.3820+7A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128335163T= | CA1581269467 | FBN2 | n.757+7A= n.838+7A= c.3973+7A= (n.3973+7A=) c.523+7A= (n.523+7A=) c.3874+7A= (n.3874+7A=) c.3970+7A= (n.3970+7A=) c.3820+7A= (n.3820+7A=) | |
| 5 | g.128335164A= | CA1581269468 | FBN2 | n.757+6T= n.838+6T= c.3973+6T= (n.3973+6T=) c.523+6T= (n.523+6T=) c.3874+6T= (n.3874+6T=) c.3970+6T= (n.3970+6T=) c.3820+6T= (n.3820+6T=) | |
| 5 | g.128335164A>C | CA1581269469 | FBN2 | n.757+6T>G n.838+6T>G c.3973+6T>G (n.3973+6T>G) c.523+6T>G (n.523+6T>G) c.3874+6T>G (n.3874+6T>G) c.3970+6T>G (n.3970+6T>G) c.3820+6T>G (n.3820+6T>G) | dbSNP |
| 5 | g.128335167C>A | CA2695205116 | FBN2 | n.757+3G>T n.838+3G>T c.3973+3G>T (n.3973+3G>T) c.523+3G>T (n.523+3G>T) c.3874+3G>T (n.3874+3G>T) c.3970+3G>T (n.3970+3G>T) c.3820+3G>T (n.3820+3G>T) | |
| 5 | g.128335167C= | CA1581269470 | FBN2 | n.757+3G= n.838+3G= c.3973+3G= (n.3973+3G=) c.523+3G= (n.523+3G=) c.3874+3G= (n.3874+3G=) c.3970+3G= (n.3970+3G=) c.3820+3G= (n.3820+3G=) | |
| 5 | g.128335167C>G | CA645546435 | FBN2 | n.757+3G>C n.838+3G>C c.3973+3G>C (n.3973+3G>C) c.523+3G>C (n.523+3G>C) c.3874+3G>C (n.3874+3G>C) c.3970+3G>C (n.3970+3G>C) c.3820+3G>C (n.3820+3G>C) | COSMIC COSMIC |
| 5 | g.128335167C>T | CA563056229 | FBN2 | n.757+3G>A n.838+3G>A c.3973+3G>A (n.3973+3G>A) c.523+3G>A (n.523+3G>A) c.3874+3G>A (n.3874+3G>A) c.3970+3G>A (n.3970+3G>A) c.3820+3G>A (n.3820+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335168A>C | CA360757277 | FBN2 | n.757+2T>G n.838+2T>G c.3973+2T>G (n.3973+2T>G) c.523+2T>G (n.523+2T>G) c.3874+2T>G (n.3874+2T>G) c.3970+2T>G (n.3970+2T>G) c.3820+2T>G (n.3820+2T>G) | |
| 5 | g.128335168A>G | CA360757276 | FBN2 | n.757+2T>C n.838+2T>C c.3973+2T>C (n.3973+2T>C) c.523+2T>C (n.523+2T>C) c.3874+2T>C (n.3874+2T>C) c.3970+2T>C (n.3970+2T>C) c.3820+2T>C (n.3820+2T>C) | |
| 5 | g.128335168A>T | CA360757275 | FBN2 | n.757+2T>A n.838+2T>A c.3973+2T>A (n.3973+2T>A) c.523+2T>A (n.523+2T>A) c.3874+2T>A (n.3874+2T>A) c.3970+2T>A (n.3970+2T>A) c.3820+2T>A (n.3820+2T>A) | |
| 5 | g.128335169C>A | CA360757278 | FBN2 | n.757+1G>T n.838+1G>T c.3973+1G>T (n.3973+1G>T) c.523+1G>T (n.523+1G>T) c.3874+1G>T (n.3874+1G>T) c.3970+1G>T (n.3970+1G>T) c.3820+1G>T (n.3820+1G>T) | |
| 5 | g.128335169C>G | CA360757279 | FBN2 | n.757+1G>C n.838+1G>C c.3973+1G>C (n.3973+1G>C) c.523+1G>C (n.523+1G>C) c.3874+1G>C (n.3874+1G>C) c.3970+1G>C (n.3970+1G>C) c.3820+1G>C (n.3820+1G>C) | |
| 5 | g.128335169C>T | CA360757280 | FBN2 | n.757+1G>A n.838+1G>A c.3973+1G>A (n.3973+1G>A) c.523+1G>A (n.523+1G>A) c.3874+1G>A (n.3874+1G>A) c.3970+1G>A (n.3970+1G>A) c.3820+1G>A (n.3820+1G>A) | |
| 5 | g.128335170C>A | CA360757281 | FBN2 | n.757G>T n.838G>T c.3973G>T (p.Asp1325Tyr) c.523G>T (p.Asp175Tyr) c.3874G>T (p.Asp1292Tyr) c.3970G>T (p.Asp1324Tyr) c.3820G>T (p.Asp1274Tyr) | |
| 5 | g.128335170C= | CA1581269471 | FBN2 | n.757G= n.838G= c.3973G= (p.Asp1325=) c.523G= (p.Asp175=) c.3874G= (p.Asp1292=) c.3970G= (p.Asp1324=) c.3820G= (p.Asp1274=) | |
| 5 | g.128335170C>G | CA360757282 | FBN2 | n.757G>C n.838G>C c.3973G>C (p.Asp1325His) c.523G>C (p.Asp175His) c.3874G>C (p.Asp1292His) c.3970G>C (p.Asp1324His) c.3820G>C (p.Asp1274His) | |
| 5 | g.128335170C>T | CA360757283 | FBN2 | n.757G>A n.838G>A c.3973G>A (p.Asp1325Asn) c.523G>A (p.Asp175Asn) c.3874G>A (p.Asp1292Asn) c.3970G>A (p.Asp1324Asn) c.3820G>A (p.Asp1274Asn) | ClinVar dbSNP |
| 5 | g.128335171A>C | CA360757284 | FBN2 | n.756T>G n.837T>G c.3972T>G (p.Ile1324Met) c.522T>G (p.Ile174Met) c.3873T>G (p.Ile1291Met) c.3969T>G (p.Ile1323Met) c.3819T>G (p.Ile1273Met) | |
| 5 | g.128335171A>G | CA446310020 | FBN2 | n.756T>C n.837T>C c.3972T>C (p.Ile1324=) c.522T>C (p.Ile174=) c.3873T>C (p.Ile1291=) c.3969T>C (p.Ile1323=) c.3819T>C (p.Ile1273=) | |
| 5 | g.128335171A>T | CA446310021 | FBN2 | n.756T>A n.837T>A c.3972T>A (p.Ile1324=) c.522T>A (p.Ile174=) c.3873T>A (p.Ile1291=) c.3969T>A (p.Ile1323=) c.3819T>A (p.Ile1273=) | |
| 5 | g.128335172A= | CA1581269472 | FBN2 | n.755T= n.836T= c.3971T= (p.Ile1324=) c.521T= (p.Ile174=) c.3872T= (p.Ile1291=) c.3968T= (p.Ile1323=) c.3818T= (p.Ile1273=) | |
| 5 | g.128335172A>C | CA360757285 | FBN2 | n.755T>G n.836T>G c.3971T>G (p.Ile1324Ser) c.521T>G (p.Ile174Ser) c.3872T>G (p.Ile1291Ser) c.3968T>G (p.Ile1323Ser) c.3818T>G (p.Ile1273Ser) | |
| 5 | g.128335172A>G | CA3395095 | FBN2 | n.755T>C n.836T>C c.3971T>C (p.Ile1324Thr) c.521T>C (p.Ile174Thr) c.3872T>C (p.Ile1291Thr) c.3968T>C (p.Ile1323Thr) c.3818T>C (p.Ile1273Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335172A>T | CA360757286 | FBN2 | n.755T>A n.836T>A c.3971T>A (p.Ile1324Asn) c.521T>A (p.Ile174Asn) c.3872T>A (p.Ile1291Asn) c.3968T>A (p.Ile1323Asn) c.3818T>A (p.Ile1273Asn) | |
| 5 | g.128335173T>A | CA360757287 | FBN2 | n.754A>T n.835A>T c.3970A>T (p.Ile1324Phe) c.520A>T (p.Ile174Phe) c.3871A>T (p.Ile1291Phe) c.3967A>T (p.Ile1323Phe) c.3817A>T (p.Ile1273Phe) | |
| 5 | g.128335173T>C | CA360757288 | FBN2 | n.754A>G n.835A>G c.3970A>G (p.Ile1324Val) c.520A>G (p.Ile174Val) c.3871A>G (p.Ile1291Val) c.3967A>G (p.Ile1323Val) c.3817A>G (p.Ile1273Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335173T>G | CA360757289 | FBN2 | n.754A>C n.835A>C c.3970A>C (p.Ile1324Leu) c.520A>C (p.Ile174Leu) c.3871A>C (p.Ile1291Leu) c.3967A>C (p.Ile1323Leu) c.3817A>C (p.Ile1273Leu) | |
| 5 | g.128335173T= | CA1581269473 | FBN2 | n.754A= n.835A= c.3970A= (p.Ile1324=) c.520A= (p.Ile174=) c.3871A= (p.Ile1291=) c.3967A= (p.Ile1323=) c.3817A= (p.Ile1273=) | |
| 5 | g.128335174G>A | CA446310023 | FBN2 | n.753C>T n.834C>T c.3969C>T (p.Cys1323=) c.519C>T (p.Cys173=) c.3870C>T (p.Cys1290=) c.3966C>T (p.Cys1322=) c.3816C>T (p.Cys1272=) | |
| 5 | g.128335174G>C | CA360757291 | FBN2 | n.753C>G n.834C>G c.3969C>G (p.Cys1323Trp) c.519C>G (p.Cys173Trp) c.3870C>G (p.Cys1290Trp) c.3966C>G (p.Cys1322Trp) c.3816C>G (p.Cys1272Trp) | |
| 5 | g.128335174G>T | CA360757290 | FBN2 | n.753C>A n.834C>A c.3969C>A (p.Cys1323Ter) c.519C>A (p.Cys173Ter) c.3870C>A (p.Cys1290Ter) c.3966C>A (p.Cys1322Ter) c.3816C>A (p.Cys1272Ter) | |
| 5 | g.128335175C>A | CA360757292 | FBN2 | n.752G>T n.833G>T c.3968G>T (p.Cys1323Phe) c.518G>T (p.Cys173Phe) c.3869G>T (p.Cys1290Phe) c.3965G>T (p.Cys1322Phe) c.3815G>T (p.Cys1272Phe) | gnomAD v4 |
| 5 | g.128335175C>G | CA360757293 | FBN2 | n.752G>C n.833G>C c.3968G>C (p.Cys1323Ser) c.518G>C (p.Cys173Ser) c.3869G>C (p.Cys1290Ser) c.3965G>C (p.Cys1322Ser) c.3815G>C (p.Cys1272Ser) | ClinVar |
| 5 | g.128335175C>T | CA360757294 | FBN2 | n.752G>A n.833G>A c.3968G>A (p.Cys1323Tyr) c.518G>A (p.Cys173Tyr) c.3869G>A (p.Cys1290Tyr) c.3965G>A (p.Cys1322Tyr) c.3815G>A (p.Cys1272Tyr) | gnomAD v4 |
| 5 | g.128335176A= | CA1581269474 | FBN2 | n.751T= n.832T= c.3967T= (p.Cys1323=) c.517T= (p.Cys173=) c.3868T= (p.Cys1290=) c.3964T= (p.Cys1322=) c.3814T= (p.Cys1272=) | |
| 5 | g.128335176A>C | CA360757295 | FBN2 | n.751T>G n.832T>G c.3967T>G (p.Cys1323Gly) c.517T>G (p.Cys173Gly) c.3868T>G (p.Cys1290Gly) c.3964T>G (p.Cys1322Gly) c.3814T>G (p.Cys1272Gly) | ClinVar dbSNP |
| 5 | g.128335176A>G | CA360757296 | FBN2 | n.751T>C n.832T>C c.3967T>C (p.Cys1323Arg) c.517T>C (p.Cys173Arg) c.3868T>C (p.Cys1290Arg) c.3964T>C (p.Cys1322Arg) c.3814T>C (p.Cys1272Arg) | ClinVar |
| 5 | g.128335176A>T | CA360757297 | FBN2 | n.751T>A n.832T>A c.3967T>A (p.Cys1323Ser) c.517T>A (p.Cys173Ser) c.3868T>A (p.Cys1290Ser) c.3964T>A (p.Cys1322Ser) c.3814T>A (p.Cys1272Ser) | |
| 5 | g.128335177T>A | CA446310026 | FBN2 | n.750A>T n.831A>T c.3966A>T (p.Thr1322=) c.516A>T (p.Thr172=) c.3867A>T (p.Thr1289=) c.3963A>T (p.Thr1321=) c.3813A>T (p.Thr1271=) | gnomAD v4 |
| 5 | g.128335177T>C | CA446310028 | FBN2 | n.750A>G n.831A>G c.3966A>G (p.Thr1322=) c.516A>G (p.Thr172=) c.3867A>G (p.Thr1289=) c.3963A>G (p.Thr1321=) c.3813A>G (p.Thr1271=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335177T>G | CA446310030 | FBN2 | n.750A>C n.831A>C c.3966A>C (p.Thr1322=) c.516A>C (p.Thr172=) c.3867A>C (p.Thr1289=) c.3963A>C (p.Thr1321=) c.3813A>C (p.Thr1271=) | |
| 5 | g.128335177T= | CA1581269475 | FBN2 | n.750A= n.831A= c.3966A= (p.Thr1322=) c.516A= (p.Thr172=) c.3867A= (p.Thr1289=) c.3963A= (p.Thr1321=) c.3813A= (p.Thr1271=) | |
| 5 | g.128335178G>A | CA360757298 | FBN2 | n.749C>T n.830C>T c.3965C>T (p.Thr1322Ile) c.515C>T (p.Thr172Ile) c.3866C>T (p.Thr1289Ile) c.3962C>T (p.Thr1321Ile) c.3812C>T (p.Thr1271Ile) | |
| 5 | g.128335178G>C | CA360757299 | FBN2 | n.749C>G n.830C>G c.3965C>G (p.Thr1322Arg) c.515C>G (p.Thr172Arg) c.3866C>G (p.Thr1289Arg) c.3962C>G (p.Thr1321Arg) c.3812C>G (p.Thr1271Arg) | |
| 5 | g.128335178G>T | CA360757300 | FBN2 | n.749C>A n.830C>A c.3965C>A (p.Thr1322Lys) c.515C>A (p.Thr172Lys) c.3866C>A (p.Thr1289Lys) c.3962C>A (p.Thr1321Lys) c.3812C>A (p.Thr1271Lys) | |
| 5 | g.128335179T>A | CA360757301 | FBN2 | n.748A>T n.829A>T c.3964A>T (p.Thr1322Ser) c.514A>T (p.Thr172Ser) c.3865A>T (p.Thr1289Ser) c.3961A>T (p.Thr1321Ser) c.3811A>T (p.Thr1271Ser) | |
| 5 | g.128335179T>C | CA3395096 | FBN2 | n.748A>G n.829A>G c.3964A>G (p.Thr1322Ala) c.514A>G (p.Thr172Ala) c.3865A>G (p.Thr1289Ala) c.3961A>G (p.Thr1321Ala) c.3811A>G (p.Thr1271Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335179T>G | CA360757302 | FBN2 | n.748A>C n.829A>C c.3964A>C (p.Thr1322Pro) c.514A>C (p.Thr172Pro) c.3865A>C (p.Thr1289Pro) c.3961A>C (p.Thr1321Pro) c.3811A>C (p.Thr1271Pro) | |
| 5 | g.128335179T= | CA1581269476 | FBN2 | n.748A= n.829A= c.3964A= (p.Thr1322=) c.514A= (p.Thr172=) c.3865A= (p.Thr1289=) c.3961A= (p.Thr1321=) c.3811A= (p.Thr1271=) | |
| 5 | g.128335180T>A | CA360757303 | FBN2 | n.747A>T n.828A>T c.3963A>T (p.Lys1321Asn) c.513A>T (p.Lys171Asn) c.3864A>T (p.Lys1288Asn) c.3960A>T (p.Lys1320Asn) c.3810A>T (p.Lys1270Asn) | |
| 5 | g.128335180T>C | CA446310032 | FBN2 | n.747A>G n.828A>G c.3963A>G (p.Lys1321=) c.513A>G (p.Lys171=) c.3864A>G (p.Lys1288=) c.3960A>G (p.Lys1320=) c.3810A>G (p.Lys1270=) | |
| 5 | g.128335180T>G | CA360757304 | FBN2 | n.747A>C n.828A>C c.3963A>C (p.Lys1321Asn) c.513A>C (p.Lys171Asn) c.3864A>C (p.Lys1288Asn) c.3960A>C (p.Lys1320Asn) c.3810A>C (p.Lys1270Asn) | |
| 5 | g.128335181T>A | CA360757307 | FBN2 | n.746A>T n.827A>T c.3962A>T (p.Lys1321Ile) c.512A>T (p.Lys171Ile) c.3863A>T (p.Lys1288Ile) c.3959A>T (p.Lys1320Ile) c.3809A>T (p.Lys1270Ile) | |
| 5 | g.128335181T>C | CA360757306 | FBN2 | n.746A>G n.827A>G c.3962A>G (p.Lys1321Arg) c.512A>G (p.Lys171Arg) c.3863A>G (p.Lys1288Arg) c.3959A>G (p.Lys1320Arg) c.3809A>G (p.Lys1270Arg) | |
| 5 | g.128335181T>G | CA360757305 | FBN2 | n.746A>C n.827A>C c.3962A>C (p.Lys1321Thr) c.512A>C (p.Lys171Thr) c.3863A>C (p.Lys1288Thr) c.3959A>C (p.Lys1320Thr) c.3809A>C (p.Lys1270Thr) | |
| 5 | g.128335182T>A | CA360757308 | FBN2 | n.745A>T n.826A>T c.3961A>T (p.Lys1321Ter) c.511A>T (p.Lys171Ter) c.3862A>T (p.Lys1288Ter) c.3958A>T (p.Lys1320Ter) c.3808A>T (p.Lys1270Ter) | |
| 5 | g.128335182T>C | CA360757309 | FBN2 | n.745A>G n.826A>G c.3961A>G (p.Lys1321Glu) c.511A>G (p.Lys171Glu) c.3862A>G (p.Lys1288Glu) c.3958A>G (p.Lys1320Glu) c.3808A>G (p.Lys1270Glu) | |
| 5 | g.128335182T>G | CA360757310 | FBN2 | n.745A>C n.826A>C c.3961A>C (p.Lys1321Gln) c.511A>C (p.Lys171Gln) c.3862A>C (p.Lys1288Gln) c.3958A>C (p.Lys1320Gln) c.3808A>C (p.Lys1270Gln) | |
| 5 | g.128335183C>A | CA360757311 | FBN2 | n.744G>T n.825G>T c.3960G>T (p.Met1320Ile) c.510G>T (p.Met170Ile) c.3861G>T (p.Met1287Ile) c.3957G>T (p.Met1319Ile) c.3807G>T (p.Met1269Ile) | ClinVar dbSNP |
| 5 | g.128335183C= | CA1581269477 | FBN2 | n.744G= n.825G= c.3960G= (p.Met1320=) c.510G= (p.Met170=) c.3861G= (p.Met1287=) c.3957G= (p.Met1319=) c.3807G= (p.Met1269=) | |
| 5 | g.128335183C>G | CA360757312 | FBN2 | n.744G>C n.825G>C c.3960G>C (p.Met1320Ile) c.510G>C (p.Met170Ile) c.3861G>C (p.Met1287Ile) c.3957G>C (p.Met1319Ile) c.3807G>C (p.Met1269Ile) | |
| 5 | g.128335183C>T | CA360757313 | FBN2 | n.744G>A n.825G>A c.3960G>A (p.Met1320Ile) c.510G>A (p.Met170Ile) c.3861G>A (p.Met1287Ile) c.3957G>A (p.Met1319Ile) c.3807G>A (p.Met1269Ile) | |
| 5 | g.128335184A>C | CA360757314 | FBN2 | n.743T>G n.824T>G c.3959T>G (p.Met1320Arg) c.509T>G (p.Met170Arg) c.3860T>G (p.Met1287Arg) c.3956T>G (p.Met1319Arg) c.3806T>G (p.Met1269Arg) | |
| 5 | g.128335184A>G | CA360757315 | FBN2 | n.743T>C n.824T>C c.3959T>C (p.Met1320Thr) c.509T>C (p.Met170Thr) c.3860T>C (p.Met1287Thr) c.3956T>C (p.Met1319Thr) c.3806T>C (p.Met1269Thr) | gnomAD v4 |
| 5 | g.128335184A>T | CA360757316 | FBN2 | n.743T>A n.824T>A c.3959T>A (p.Met1320Lys) c.509T>A (p.Met170Lys) c.3860T>A (p.Met1287Lys) c.3956T>A (p.Met1319Lys) c.3806T>A (p.Met1269Lys) | |
| 5 | g.128335185T>A | CA360757317 | FBN2 | n.742A>T n.823A>T c.3958A>T (p.Met1320Leu) c.508A>T (p.Met170Leu) c.3859A>T (p.Met1287Leu) c.3955A>T (p.Met1319Leu) c.3805A>T (p.Met1269Leu) | gnomAD v4 |
| 5 | g.128335185T>C | CA3395097 | FBN2 | n.742A>G n.823A>G c.3958A>G (p.Met1320Val) c.508A>G (p.Met170Val) c.3859A>G (p.Met1287Val) c.3955A>G (p.Met1319Val) c.3805A>G (p.Met1269Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335185T>G | CA360757318 | FBN2 | n.742A>C n.823A>C c.3958A>C (p.Met1320Leu) c.508A>C (p.Met170Leu) c.3859A>C (p.Met1287Leu) c.3955A>C (p.Met1319Leu) c.3805A>C (p.Met1269Leu) | |
| 5 | g.128335185T= | CA1581269478 | FBN2 | n.742A= n.823A= c.3958A= (p.Met1320=) c.508A= (p.Met170=) c.3859A= (p.Met1287=) c.3955A= (p.Met1319=) c.3805A= (p.Met1269=) | |
| 5 | g.128335186G>A | CA446310039 | FBN2 | n.741C>T n.822C>T c.3957C>T (p.Asp1319=) c.507C>T (p.Asp169=) c.3858C>T (p.Asp1286=) c.3954C>T (p.Asp1318=) c.3804C>T (p.Asp1268=) | dbSNP |
| 5 | g.128335186G>C | CA3395098 | FBN2 | n.741C>G n.822C>G c.3957C>G (p.Asp1319Glu) c.507C>G (p.Asp169Glu) c.3858C>G (p.Asp1286Glu) c.3954C>G (p.Asp1318Glu) c.3804C>G (p.Asp1268Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335186G= | CA1581269479 | FBN2 | n.741C= n.822C= c.3957C= (p.Asp1319=) c.507C= (p.Asp169=) c.3858C= (p.Asp1286=) c.3954C= (p.Asp1318=) c.3804C= (p.Asp1268=) | |
| 5 | g.128335186G>T | CA360757319 | FBN2 | n.741C>A n.822C>A c.3957C>A (p.Asp1319Glu) c.507C>A (p.Asp169Glu) c.3858C>A (p.Asp1286Glu) c.3954C>A (p.Asp1318Glu) c.3804C>A (p.Asp1268Glu) | COSMIC COSMIC |
| 5 | g.128335187T>A | CA360757321 | FBN2 | n.740A>T n.821A>T c.3956A>T (p.Asp1319Val) c.506A>T (p.Asp169Val) c.3857A>T (p.Asp1286Val) c.3953A>T (p.Asp1318Val) c.3803A>T (p.Asp1268Val) | |
| 5 | g.128335187T>C | CA360757322 | FBN2 | n.740A>G n.821A>G c.3956A>G (p.Asp1319Gly) c.506A>G (p.Asp169Gly) c.3857A>G (p.Asp1286Gly) c.3953A>G (p.Asp1318Gly) c.3803A>G (p.Asp1268Gly) | |
| 5 | g.128335187T>G | CA360757320 | FBN2 | n.740A>C n.821A>C c.3956A>C (p.Asp1319Ala) c.506A>C (p.Asp169Ala) c.3857A>C (p.Asp1286Ala) c.3953A>C (p.Asp1318Ala) c.3803A>C (p.Asp1268Ala) | |
| 5 | g.128335188C>A | CA360757323 | FBN2 | n.739G>T n.820G>T c.3955G>T (p.Asp1319Tyr) c.505G>T (p.Asp169Tyr) c.3856G>T (p.Asp1286Tyr) c.3952G>T (p.Asp1318Tyr) c.3802G>T (p.Asp1268Tyr) | |
| 5 | g.128335188C>G | CA360757324 | FBN2 | n.739G>C n.820G>C c.3955G>C (p.Asp1319His) c.505G>C (p.Asp169His) c.3856G>C (p.Asp1286His) c.3952G>C (p.Asp1318His) c.3802G>C (p.Asp1268His) | |
| 5 | g.128335188C>T | CA360757325 | FBN2 | n.739G>A n.820G>A c.3955G>A (p.Asp1319Asn) c.505G>A (p.Asp169Asn) c.3856G>A (p.Asp1286Asn) c.3952G>A (p.Asp1318Asn) c.3802G>A (p.Asp1268Asn) | COSMIC COSMIC |
| 5 | g.128335189C>A | CA360757326 | FBN2 | n.738G>T n.819G>T c.3954G>T (p.Met1318Ile) c.504G>T (p.Met168Ile) c.3855G>T (p.Met1285Ile) c.3951G>T (p.Met1317Ile) c.3801G>T (p.Met1267Ile) | gnomAD v4 |
| 5 | g.128335189C>G | CA360757327 | FBN2 | n.738G>C n.819G>C c.3954G>C (p.Met1318Ile) c.504G>C (p.Met168Ile) c.3855G>C (p.Met1285Ile) c.3951G>C (p.Met1317Ile) c.3801G>C (p.Met1267Ile) | |
| 5 | g.128335189C>T | CA360757328 | FBN2 | n.738G>A n.819G>A c.3954G>A (p.Met1318Ile) c.504G>A (p.Met168Ile) c.3855G>A (p.Met1285Ile) c.3951G>A (p.Met1317Ile) c.3801G>A (p.Met1267Ile) | |
| 5 | g.128335190A= | CA1581269480 | FBN2 | n.737T= n.818T= c.3953T= (p.Met1318=) c.503T= (p.Met168=) c.3854T= (p.Met1285=) c.3950T= (p.Met1317=) c.3800T= (p.Met1267=) | |
| 5 | g.128335190A>C | CA360757329 | FBN2 | n.737T>G n.818T>G c.3953T>G (p.Met1318Arg) c.503T>G (p.Met168Arg) c.3854T>G (p.Met1285Arg) c.3950T>G (p.Met1317Arg) c.3800T>G (p.Met1267Arg) | |
| 5 | g.128335190A>G | CA360757330 | FBN2 | n.737T>C n.818T>C c.3953T>C (p.Met1318Thr) c.503T>C (p.Met168Thr) c.3854T>C (p.Met1285Thr) c.3950T>C (p.Met1317Thr) c.3800T>C (p.Met1267Thr) | |
| 5 | g.128335190A>T | CA3395099 | FBN2 | n.737T>A n.818T>A c.3953T>A (p.Met1318Lys) c.503T>A (p.Met168Lys) c.3854T>A (p.Met1285Lys) c.3950T>A (p.Met1317Lys) c.3800T>A (p.Met1267Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335191T>A | CA360757331 | FBN2 | n.736A>T n.817A>T c.3952A>T (p.Met1318Leu) c.502A>T (p.Met168Leu) c.3853A>T (p.Met1285Leu) c.3949A>T (p.Met1317Leu) c.3799A>T (p.Met1267Leu) | |
| 5 | g.128335191T>C | CA360757332 | FBN2 | n.736A>G n.817A>G c.3952A>G (p.Met1318Val) c.502A>G (p.Met168Val) c.3853A>G (p.Met1285Val) c.3949A>G (p.Met1317Val) c.3799A>G (p.Met1267Val) | gnomAD v4 |
| 5 | g.128335191T>G | CA360757333 | FBN2 | n.736A>C n.817A>C c.3952A>C (p.Met1318Leu) c.502A>C (p.Met168Leu) c.3853A>C (p.Met1285Leu) c.3949A>C (p.Met1317Leu) c.3799A>C (p.Met1267Leu) | |
| 5 | g.128335192G>A | CA446310045 | FBN2 | n.735C>T n.816C>T c.3951C>T (p.Ser1317=) c.501C>T (p.Ser167=) c.3852C>T (p.Ser1284=) c.3948C>T (p.Ser1316=) c.3798C>T (p.Ser1266=) | |
| 5 | g.128335192G>C | CA446310046 | FBN2 | n.735C>G n.816C>G c.3951C>G (p.Ser1317=) c.501C>G (p.Ser167=) c.3852C>G (p.Ser1284=) c.3948C>G (p.Ser1316=) c.3798C>G (p.Ser1266=) | |
| 5 | g.128335192G>T | CA446310047 | FBN2 | n.735C>A n.816C>A c.3951C>A (p.Ser1317=) c.501C>A (p.Ser167=) c.3852C>A (p.Ser1284=) c.3948C>A (p.Ser1316=) c.3798C>A (p.Ser1266=) | gnomAD v4 |
| 5 | g.128335193G>A | CA360757336 | FBN2 | n.734C>T n.815C>T c.3950C>T (p.Ser1317Phe) c.500C>T (p.Ser167Phe) c.3851C>T (p.Ser1284Phe) c.3947C>T (p.Ser1316Phe) c.3797C>T (p.Ser1266Phe) | |
| 5 | g.128335193G>C | CA360757335 | FBN2 | n.734C>G n.815C>G c.3950C>G (p.Ser1317Cys) c.500C>G (p.Ser167Cys) c.3851C>G (p.Ser1284Cys) c.3947C>G (p.Ser1316Cys) c.3797C>G (p.Ser1266Cys) | |
| 5 | g.128335193G>T | CA360757334 | FBN2 | n.734C>A n.815C>A c.3950C>A (p.Ser1317Tyr) c.500C>A (p.Ser167Tyr) c.3851C>A (p.Ser1284Tyr) c.3947C>A (p.Ser1316Tyr) c.3797C>A (p.Ser1266Tyr) | |
| 5 | g.128335194A>C | CA360757337 | FBN2 | n.733T>G n.814T>G c.3949T>G (p.Ser1317Ala) c.499T>G (p.Ser167Ala) c.3850T>G (p.Ser1284Ala) c.3946T>G (p.Ser1316Ala) c.3796T>G (p.Ser1266Ala) | |
| 5 | g.128335194A>G | CA360757338 | FBN2 | n.733T>C n.814T>C c.3949T>C (p.Ser1317Pro) c.499T>C (p.Ser167Pro) c.3850T>C (p.Ser1284Pro) c.3946T>C (p.Ser1316Pro) c.3796T>C (p.Ser1266Pro) | |
| 5 | g.128335194A>T | CA360757339 | FBN2 | n.733T>A n.814T>A c.3949T>A (p.Ser1317Thr) c.499T>A (p.Ser167Thr) c.3850T>A (p.Ser1284Thr) c.3946T>A (p.Ser1316Thr) c.3796T>A (p.Ser1266Thr) | |
| 5 | g.128335195A>C | CA446310049 | FBN2 | n.732T>G n.813T>G c.3948T>G (p.Ala1316=) c.498T>G (p.Ala166=) c.3849T>G (p.Ala1283=) c.3945T>G (p.Ala1315=) c.3795T>G (p.Ala1265=) | |
| 5 | g.128335195A>G | CA446310050 | FBN2 | n.732T>C n.813T>C c.3948T>C (p.Ala1316=) c.498T>C (p.Ala166=) c.3849T>C (p.Ala1283=) c.3945T>C (p.Ala1315=) c.3795T>C (p.Ala1265=) | |
| 5 | g.128335195A>T | CA446310051 | FBN2 | n.732T>A n.813T>A c.3948T>A (p.Ala1316=) c.498T>A (p.Ala166=) c.3849T>A (p.Ala1283=) c.3945T>A (p.Ala1315=) c.3795T>A (p.Ala1265=) | |
| 5 | g.128335196G>A | CA360757340 | FBN2 | n.731C>T n.812C>T c.3947C>T (p.Ala1316Val) c.497C>T (p.Ala166Val) c.3848C>T (p.Ala1283Val) c.3944C>T (p.Ala1315Val) c.3794C>T (p.Ala1265Val) | |
| 5 | g.128335196G>C | CA360757341 | FBN2 | n.731C>G n.812C>G c.3947C>G (p.Ala1316Gly) c.497C>G (p.Ala166Gly) c.3848C>G (p.Ala1283Gly) c.3944C>G (p.Ala1315Gly) c.3794C>G (p.Ala1265Gly) | |
| 5 | g.128335196G>T | CA360757342 | FBN2 | n.731C>A n.812C>A c.3947C>A (p.Ala1316Asp) c.497C>A (p.Ala166Asp) c.3848C>A (p.Ala1283Asp) c.3944C>A (p.Ala1315Asp) c.3794C>A (p.Ala1265Asp) | |
| 5 | g.128335197C>A | CA360757343 | FBN2 | n.730G>T n.811G>T c.3946G>T (p.Ala1316Ser) c.496G>T (p.Ala166Ser) c.3847G>T (p.Ala1283Ser) c.3943G>T (p.Ala1315Ser) c.3793G>T (p.Ala1265Ser) | |
| 5 | g.128335197C>G | CA360757344 | FBN2 | n.730G>C n.811G>C c.3946G>C (p.Ala1316Pro) c.496G>C (p.Ala166Pro) c.3847G>C (p.Ala1283Pro) c.3943G>C (p.Ala1315Pro) c.3793G>C (p.Ala1265Pro) | |
| 5 | g.128335197C>T | CA360757345 | FBN2 | n.730G>A n.811G>A c.3946G>A (p.Ala1316Thr) c.496G>A (p.Ala166Thr) c.3847G>A (p.Ala1283Thr) c.3943G>A (p.Ala1315Thr) c.3793G>A (p.Ala1265Thr) | |
| 5 | g.128335198C>A | CA360757346 | FBN2 | n.729G>T n.810G>T c.3945G>T (p.Met1315Ile) c.495G>T (p.Met165Ile) c.3846G>T (p.Met1282Ile) c.3942G>T (p.Met1314Ile) c.3792G>T (p.Met1264Ile) | |
| 5 | g.128335198C= | CA1581269481 | FBN2 | n.729G= n.810G= c.3945G= (p.Met1315=) c.495G= (p.Met165=) c.3846G= (p.Met1282=) c.3942G= (p.Met1314=) c.3792G= (p.Met1264=) | |
| 5 | g.128335198C>G | CA360757347 | FBN2 | n.729G>C n.810G>C c.3945G>C (p.Met1315Ile) c.495G>C (p.Met165Ile) c.3846G>C (p.Met1282Ile) c.3942G>C (p.Met1314Ile) c.3792G>C (p.Met1264Ile) | |
| 5 | g.128335198C>T | CA360757348 | FBN2 | n.729G>A n.810G>A c.3945G>A (p.Met1315Ile) c.495G>A (p.Met165Ile) c.3846G>A (p.Met1282Ile) c.3942G>A (p.Met1314Ile) c.3792G>A (p.Met1264Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335199A>C | CA360757349 | FBN2 | n.728T>G n.809T>G c.3944T>G (p.Met1315Arg) c.494T>G (p.Met165Arg) c.3845T>G (p.Met1282Arg) c.3941T>G (p.Met1314Arg) c.3791T>G (p.Met1264Arg) | |
| 5 | g.128335199A>G | CA360757351 | FBN2 | n.728T>C n.809T>C c.3944T>C (p.Met1315Thr) c.494T>C (p.Met165Thr) c.3845T>C (p.Met1282Thr) c.3941T>C (p.Met1314Thr) c.3791T>C (p.Met1264Thr) | |
| 5 | g.128335199A>T | CA360757350 | FBN2 | n.728T>A n.809T>A c.3944T>A (p.Met1315Lys) c.494T>A (p.Met165Lys) c.3845T>A (p.Met1282Lys) c.3941T>A (p.Met1314Lys) c.3791T>A (p.Met1264Lys) | gnomAD v4 |
| 5 | g.128335200T>A | CA360757352 | FBN2 | n.727A>T n.808A>T c.3943A>T (p.Met1315Leu) c.493A>T (p.Met165Leu) c.3844A>T (p.Met1282Leu) c.3940A>T (p.Met1314Leu) c.3790A>T (p.Met1264Leu) | |
| 5 | g.128335200T>C | CA360757354 | FBN2 | n.727A>G n.808A>G c.3943A>G (p.Met1315Val) c.493A>G (p.Met165Val) c.3844A>G (p.Met1282Val) c.3940A>G (p.Met1314Val) c.3790A>G (p.Met1264Val) | |
| 5 | g.128335200T>G | CA360757353 | FBN2 | n.727A>C n.808A>C c.3943A>C (p.Met1315Leu) c.493A>C (p.Met165Leu) c.3844A>C (p.Met1282Leu) c.3940A>C (p.Met1314Leu) c.3790A>C (p.Met1264Leu) | |
| 5 | g.128335201G>A | CA446310052 | FBN2 | n.726C>T n.807C>T c.3942C>T (p.Phe1314=) c.492C>T (p.Phe164=) c.3843C>T (p.Phe1281=) c.3939C>T (p.Phe1313=) c.3789C>T (p.Phe1263=) | |
| 5 | g.128335201G>C | CA360757355 | FBN2 | n.726C>G n.807C>G c.3942C>G (p.Phe1314Leu) c.492C>G (p.Phe164Leu) c.3843C>G (p.Phe1281Leu) c.3939C>G (p.Phe1313Leu) c.3789C>G (p.Phe1263Leu) | |
| 5 | g.128335201G>T | CA360757356 | FBN2 | n.726C>A n.807C>A c.3942C>A (p.Phe1314Leu) c.492C>A (p.Phe164Leu) c.3843C>A (p.Phe1281Leu) c.3939C>A (p.Phe1313Leu) c.3789C>A (p.Phe1263Leu) | |
| 5 | g.128335202A>C | CA360757357 | FBN2 | n.725T>G n.806T>G c.3941T>G (p.Phe1314Cys) c.491T>G (p.Phe164Cys) c.3842T>G (p.Phe1281Cys) c.3938T>G (p.Phe1313Cys) c.3788T>G (p.Phe1263Cys) | |
| 5 | g.128335202A>G | CA360757359 | FBN2 | n.725T>C n.806T>C c.3941T>C (p.Phe1314Ser) c.491T>C (p.Phe164Ser) c.3842T>C (p.Phe1281Ser) c.3938T>C (p.Phe1313Ser) c.3788T>C (p.Phe1263Ser) | |
| 5 | g.128335202A>T | CA360757358 | FBN2 | n.725T>A n.806T>A c.3941T>A (p.Phe1314Tyr) c.491T>A (p.Phe164Tyr) c.3842T>A (p.Phe1281Tyr) c.3938T>A (p.Phe1313Tyr) c.3788T>A (p.Phe1263Tyr) | gnomAD v4 |
| 5 | g.128335203A>C | CA360757360 | FBN2 | n.724T>G n.805T>G c.3940T>G (p.Phe1314Val) c.490T>G (p.Phe164Val) c.3841T>G (p.Phe1281Val) c.3937T>G (p.Phe1313Val) c.3787T>G (p.Phe1263Val) | |
| 5 | g.128335203A>G | CA360757361 | FBN2 | n.724T>C n.805T>C c.3940T>C (p.Phe1314Leu) c.490T>C (p.Phe164Leu) c.3841T>C (p.Phe1281Leu) c.3937T>C (p.Phe1313Leu) c.3787T>C (p.Phe1263Leu) | |
| 5 | g.128335203A>T | CA360757362 | FBN2 | n.724T>A n.805T>A c.3940T>A (p.Phe1314Ile) c.490T>A (p.Phe164Ile) c.3841T>A (p.Phe1281Ile) c.3937T>A (p.Phe1313Ile) c.3787T>A (p.Phe1263Ile) | |
| 5 | g.128335204G>A | CA446310053 | FBN2 | n.723C>T n.804C>T c.3939C>T (p.Gly1313=) c.489C>T (p.Gly163=) c.3840C>T (p.Gly1280=) c.3936C>T (p.Gly1312=) c.3786C>T (p.Gly1262=) | |
| 5 | g.128335204G>C | CA446310054 | FBN2 | n.723C>G n.804C>G c.3939C>G (p.Gly1313=) c.489C>G (p.Gly163=) c.3840C>G (p.Gly1280=) c.3936C>G (p.Gly1312=) c.3786C>G (p.Gly1262=) | gnomAD v4 |
| 5 | g.128335204G>T | CA446310055 | FBN2 | n.723C>A n.804C>A c.3939C>A (p.Gly1313=) c.489C>A (p.Gly163=) c.3840C>A (p.Gly1280=) c.3936C>A (p.Gly1312=) c.3786C>A (p.Gly1262=) | |
| 5 | g.128335205C>A | CA360757363 | FBN2 | n.722G>T n.803G>T c.3938G>T (p.Gly1313Val) c.488G>T (p.Gly163Val) c.3839G>T (p.Gly1280Val) c.3935G>T (p.Gly1312Val) c.3785G>T (p.Gly1262Val) | |
| 5 | g.128335205C>G | CA360757364 | FBN2 | n.722G>C n.803G>C c.3938G>C (p.Gly1313Ala) c.488G>C (p.Gly163Ala) c.3839G>C (p.Gly1280Ala) c.3935G>C (p.Gly1312Ala) c.3785G>C (p.Gly1262Ala) | |
| 5 | g.128335205C>T | CA360757365 | FBN2 | n.722G>A n.803G>A c.3938G>A (p.Gly1313Asp) c.488G>A (p.Gly163Asp) c.3839G>A (p.Gly1280Asp) c.3935G>A (p.Gly1312Asp) c.3785G>A (p.Gly1262Asp) | gnomAD v4 |
| 5 | g.128335206C>A | CA360757366 | FBN2 | n.721G>T n.802G>T c.3937G>T (p.Gly1313Cys) c.487G>T (p.Gly163Cys) c.3838G>T (p.Gly1280Cys) c.3934G>T (p.Gly1312Cys) c.3784G>T (p.Gly1262Cys) | |
| 5 | g.128335206C>G | CA360757367 | FBN2 | n.721G>C n.802G>C c.3937G>C (p.Gly1313Arg) c.487G>C (p.Gly163Arg) c.3838G>C (p.Gly1280Arg) c.3934G>C (p.Gly1312Arg) c.3784G>C (p.Gly1262Arg) | |
| 5 | g.128335206C>T | CA360757368 | FBN2 | n.721G>A n.802G>A c.3937G>A (p.Gly1313Ser) c.487G>A (p.Gly163Ser) c.3838G>A (p.Gly1280Ser) c.3934G>A (p.Gly1312Ser) c.3784G>A (p.Gly1262Ser) | |
| 5 | g.128335207A>C | CA360757369 | FBN2 | n.720T>G n.801T>G c.3936T>G (p.Asp1312Glu) c.486T>G (p.Asp162Glu) c.3837T>G (p.Asp1279Glu) c.3933T>G (p.Asp1311Glu) c.3783T>G (p.Asp1261Glu) | gnomAD v4 |
| 5 | g.128335207A>G | CA446310056 | FBN2 | n.720T>C n.801T>C c.3936T>C (p.Asp1312=) c.486T>C (p.Asp162=) c.3837T>C (p.Asp1279=) c.3933T>C (p.Asp1311=) c.3783T>C (p.Asp1261=) | |
| 5 | g.128335207A>T | CA360757370 | FBN2 | n.720T>A n.801T>A c.3936T>A (p.Asp1312Glu) c.486T>A (p.Asp162Glu) c.3837T>A (p.Asp1279Glu) c.3933T>A (p.Asp1311Glu) c.3783T>A (p.Asp1261Glu) | |
| 5 | g.128335208T>A | CA360757373 | FBN2 | n.719A>T n.800A>T c.3935A>T (p.Asp1312Val) c.485A>T (p.Asp162Val) c.3836A>T (p.Asp1279Val) c.3932A>T (p.Asp1311Val) c.3782A>T (p.Asp1261Val) | gnomAD v4 |
| 5 | g.128335208T>C | CA360757371 | FBN2 | n.719A>G n.800A>G c.3935A>G (p.Asp1312Gly) c.485A>G (p.Asp162Gly) c.3836A>G (p.Asp1279Gly) c.3932A>G (p.Asp1311Gly) c.3782A>G (p.Asp1261Gly) | |
| 5 | g.128335208T>G | CA360757372 | FBN2 | n.719A>C n.800A>C c.3935A>C (p.Asp1312Ala) c.485A>C (p.Asp162Ala) c.3836A>C (p.Asp1279Ala) c.3932A>C (p.Asp1311Ala) c.3782A>C (p.Asp1261Ala) | |
| 5 | g.128335209C>A | CA360757374 | FBN2 | n.718G>T n.799G>T c.3934G>T (p.Asp1312Tyr) c.484G>T (p.Asp162Tyr) c.3835G>T (p.Asp1279Tyr) c.3931G>T (p.Asp1311Tyr) c.3781G>T (p.Asp1261Tyr) | |
| 5 | g.128335209C>G | CA360757375 | FBN2 | n.718G>C n.799G>C c.3934G>C (p.Asp1312His) c.484G>C (p.Asp162His) c.3835G>C (p.Asp1279His) c.3931G>C (p.Asp1311His) c.3781G>C (p.Asp1261His) | |
| 5 | g.128335209C>T | CA360757376 | FBN2 | n.718G>A n.799G>A c.3934G>A (p.Asp1312Asn) c.484G>A (p.Asp162Asn) c.3835G>A (p.Asp1279Asn) c.3931G>A (p.Asp1311Asn) c.3781G>A (p.Asp1261Asn) | |
| 5 | g.128335210A>C | CA360757377 | FBN2 | n.717T>G n.798T>G c.3933T>G (p.Tyr1311Ter) c.483T>G (p.Tyr161Ter) c.3834T>G (p.Tyr1278Ter) c.3930T>G (p.Tyr1310Ter) c.3780T>G (p.Tyr1260Ter) | |
| 5 | g.128335210A>G | CA446310057 | FBN2 | n.717T>C n.798T>C c.3933T>C (p.Tyr1311=) c.483T>C (p.Tyr161=) c.3834T>C (p.Tyr1278=) c.3930T>C (p.Tyr1310=) c.3780T>C (p.Tyr1260=) | |
| 5 | g.128335210A>T | CA360757378 | FBN2 | n.717T>A n.798T>A c.3933T>A (p.Tyr1311Ter) c.483T>A (p.Tyr161Ter) c.3834T>A (p.Tyr1278Ter) c.3930T>A (p.Tyr1310Ter) c.3780T>A (p.Tyr1260Ter) | |
| 5 | g.128335211T>A | CA360757379 | FBN2 | n.716A>T n.797A>T c.3932A>T (p.Tyr1311Phe) c.482A>T (p.Tyr161Phe) c.3833A>T (p.Tyr1278Phe) c.3929A>T (p.Tyr1310Phe) c.3779A>T (p.Tyr1260Phe) | |
| 5 | g.128335211T>C | CA321929 | FBN2 | n.716A>G n.797A>G c.3932A>G (p.Tyr1311Cys) c.482A>G (p.Tyr161Cys) c.3833A>G (p.Tyr1278Cys) c.3929A>G (p.Tyr1310Cys) c.3779A>G (p.Tyr1260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335211T>G | CA360757380 | FBN2 | n.716A>C n.797A>C c.3932A>C (p.Tyr1311Ser) c.482A>C (p.Tyr161Ser) c.3833A>C (p.Tyr1278Ser) c.3929A>C (p.Tyr1310Ser) c.3779A>C (p.Tyr1260Ser) | dbSNP |
| 5 | g.128335211T= | CA1581269482 | FBN2 | n.716A= n.797A= c.3932A= (p.Tyr1311=) c.482A= (p.Tyr161=) c.3833A= (p.Tyr1278=) c.3929A= (p.Tyr1310=) c.3779A= (p.Tyr1260=) | |
| 5 | g.128335212A= | CA1581269483 | FBN2 | n.715T= n.796T= c.3931T= (p.Tyr1311=) c.481T= (p.Tyr161=) c.3832T= (p.Tyr1278=) c.3928T= (p.Tyr1310=) c.3778T= (p.Tyr1260=) | |
| 5 | g.128335212A>C | CA360757381 | FBN2 | n.715T>G n.796T>G c.3931T>G (p.Tyr1311Asp) c.481T>G (p.Tyr161Asp) c.3832T>G (p.Tyr1278Asp) c.3928T>G (p.Tyr1310Asp) c.3778T>G (p.Tyr1260Asp) | |
| 5 | g.128335212A>G | CA360757382 | FBN2 | n.715T>C n.796T>C c.3931T>C (p.Tyr1311His) c.481T>C (p.Tyr161His) c.3832T>C (p.Tyr1278His) c.3928T>C (p.Tyr1310His) c.3778T>C (p.Tyr1260His) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335212A>T | CA360757383 | FBN2 | n.715T>A n.796T>A c.3931T>A (p.Tyr1311Asn) c.481T>A (p.Tyr161Asn) c.3832T>A (p.Tyr1278Asn) c.3928T>A (p.Tyr1310Asn) c.3778T>A (p.Tyr1260Asn) | |
| 5 | g.128335213G>A | CA446310058 | FBN2 | n.714C>T n.795C>T c.3930C>T (p.Cys1310=) c.480C>T (p.Cys160=) c.3831C>T (p.Cys1277=) c.3927C>T (p.Cys1309=) c.3777C>T (p.Cys1259=) | |
| 5 | g.128335213G>C | CA360757385 | FBN2 | n.714C>G n.795C>G c.3930C>G (p.Cys1310Trp) c.480C>G (p.Cys160Trp) c.3831C>G (p.Cys1277Trp) c.3927C>G (p.Cys1309Trp) c.3777C>G (p.Cys1259Trp) | |
| 5 | g.128335213G>T | CA360757384 | FBN2 | n.714C>A n.795C>A c.3930C>A (p.Cys1310Ter) c.480C>A (p.Cys160Ter) c.3831C>A (p.Cys1277Ter) c.3927C>A (p.Cys1309Ter) c.3777C>A (p.Cys1259Ter) | |
| 5 | g.128335214C>A | CA360757386 | FBN2 | n.713G>T n.794G>T c.3929G>T (p.Cys1310Phe) c.479G>T (p.Cys160Phe) c.3830G>T (p.Cys1277Phe) c.3926G>T (p.Cys1309Phe) c.3776G>T (p.Cys1259Phe) | COSMIC COSMIC |
| 5 | g.128335214C>G | CA360757387 | FBN2 | n.713G>C n.794G>C c.3929G>C (p.Cys1310Ser) c.479G>C (p.Cys160Ser) c.3830G>C (p.Cys1277Ser) c.3926G>C (p.Cys1309Ser) c.3776G>C (p.Cys1259Ser) | |
| 5 | g.128335214C>T | CA360757388 | FBN2 | n.713G>A n.794G>A c.3929G>A (p.Cys1310Tyr) c.479G>A (p.Cys160Tyr) c.3830G>A (p.Cys1277Tyr) c.3926G>A (p.Cys1309Tyr) c.3776G>A (p.Cys1259Tyr) | |
| 5 | g.128335215A>C | CA360757389 | FBN2 | n.712T>G n.793T>G c.3928T>G (p.Cys1310Gly) c.478T>G (p.Cys160Gly) c.3829T>G (p.Cys1277Gly) c.3925T>G (p.Cys1309Gly) c.3775T>G (p.Cys1259Gly) | |
| 5 | g.128335215A>G | CA360757390 | FBN2 | n.712T>C n.793T>C c.3928T>C (p.Cys1310Arg) c.478T>C (p.Cys160Arg) c.3829T>C (p.Cys1277Arg) c.3925T>C (p.Cys1309Arg) c.3775T>C (p.Cys1259Arg) | |
| 5 | g.128335215A>T | CA360757391 | FBN2 | n.712T>A n.793T>A c.3928T>A (p.Cys1310Ser) c.478T>A (p.Cys160Ser) c.3829T>A (p.Cys1277Ser) c.3925T>A (p.Cys1309Ser) c.3775T>A (p.Cys1259Ser) | |
| 5 | g.128335216G>A | CA446310059 | FBN2 | n.711C>T n.792C>T c.3927C>T (p.Leu1309=) c.477C>T (p.Leu159=) c.3828C>T (p.Leu1276=) c.3924C>T (p.Leu1308=) c.3774C>T (p.Leu1258=) | |
| 5 | g.128335216G>C | CA446310061 | FBN2 | n.711C>G n.792C>G c.3927C>G (p.Leu1309=) c.477C>G (p.Leu159=) c.3828C>G (p.Leu1276=) c.3924C>G (p.Leu1308=) c.3774C>G (p.Leu1258=) | |
| 5 | g.128335216G>T | CA446310060 | FBN2 | n.711C>A n.792C>A c.3927C>A (p.Leu1309=) c.477C>A (p.Leu159=) c.3828C>A (p.Leu1276=) c.3924C>A (p.Leu1308=) c.3774C>A (p.Leu1258=) | |
| 5 | g.128335217A>C | CA360757394 | FBN2 | n.710T>G n.791T>G c.3926T>G (p.Leu1309Arg) c.476T>G (p.Leu159Arg) c.3827T>G (p.Leu1276Arg) c.3923T>G (p.Leu1308Arg) c.3773T>G (p.Leu1258Arg) | gnomAD v4 |
| 5 | g.128335217A>G | CA360757392 | FBN2 | n.710T>C n.791T>C c.3926T>C (p.Leu1309Pro) c.476T>C (p.Leu159Pro) c.3827T>C (p.Leu1276Pro) c.3923T>C (p.Leu1308Pro) c.3773T>C (p.Leu1258Pro) | |
| 5 | g.128335217A>T | CA360757393 | FBN2 | n.710T>A n.791T>A c.3926T>A (p.Leu1309His) c.476T>A (p.Leu159His) c.3827T>A (p.Leu1276His) c.3923T>A (p.Leu1308His) c.3773T>A (p.Leu1258His) | |
| 5 | g.128335218G>A | CA3395100 | FBN2 | n.709C>T n.790C>T c.3925C>T (p.Leu1309Phe) c.475C>T (p.Leu159Phe) c.3826C>T (p.Leu1276Phe) c.3922C>T (p.Leu1308Phe) c.3772C>T (p.Leu1258Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335218G>C | CA360757395 | FBN2 | n.709C>G n.790C>G c.3925C>G (p.Leu1309Val) c.475C>G (p.Leu159Val) c.3826C>G (p.Leu1276Val) c.3922C>G (p.Leu1308Val) c.3772C>G (p.Leu1258Val) | |
| 5 | g.128335218G= | CA1581269484 | FBN2 | n.709C= n.790C= c.3925C= (p.Leu1309=) c.475C= (p.Leu159=) c.3826C= (p.Leu1276=) c.3922C= (p.Leu1308=) c.3772C= (p.Leu1258=) | |
| 5 | g.128335218G>T | CA360757396 | FBN2 | n.709C>A n.790C>A c.3925C>A (p.Leu1309Ile) c.475C>A (p.Leu159Ile) c.3826C>A (p.Leu1276Ile) c.3922C>A (p.Leu1308Ile) c.3772C>A (p.Leu1258Ile) | |
| 5 | g.128335219G>A | CA446310062 | FBN2 | n.708C>T n.789C>T c.3924C>T (p.Cys1308=) c.474C>T (p.Cys158=) c.3825C>T (p.Cys1275=) c.3921C>T (p.Cys1307=) c.3771C>T (p.Cys1257=) | |
| 5 | g.128335219G>C | CA360757397 | FBN2 | n.708C>G n.789C>G c.3924C>G (p.Cys1308Trp) c.474C>G (p.Cys158Trp) c.3825C>G (p.Cys1275Trp) c.3921C>G (p.Cys1307Trp) c.3771C>G (p.Cys1257Trp) | |
| 5 | g.128335219G>T | CA360757398 | FBN2 | n.708C>A n.789C>A c.3924C>A (p.Cys1308Ter) c.474C>A (p.Cys158Ter) c.3825C>A (p.Cys1275Ter) c.3921C>A (p.Cys1307Ter) c.3771C>A (p.Cys1257Ter) | |
| 5 | g.128335220C>A | CA360757399 | FBN2 | n.707G>T n.788G>T c.3923G>T (p.Cys1308Phe) c.473G>T (p.Cys158Phe) c.3824G>T (p.Cys1275Phe) c.3920G>T (p.Cys1307Phe) c.3770G>T (p.Cys1257Phe) | |
| 5 | g.128335220C>G | CA360757401 | FBN2 | n.707G>C n.788G>C c.3923G>C (p.Cys1308Ser) c.473G>C (p.Cys158Ser) c.3824G>C (p.Cys1275Ser) c.3920G>C (p.Cys1307Ser) c.3770G>C (p.Cys1257Ser) | |
| 5 | g.128335220C>T | CA360757400 | FBN2 | n.707G>A n.788G>A c.3923G>A (p.Cys1308Tyr) c.473G>A (p.Cys158Tyr) c.3824G>A (p.Cys1275Tyr) c.3920G>A (p.Cys1307Tyr) c.3770G>A (p.Cys1257Tyr) | |
| 5 | g.128335220dup | CA2695205117 | FBN2 | n.707dup n.788dup c.3923dup (p.Cys1308TrpfsTer5) c.473dup (p.Cys158TrpfsTer5) c.3824dup (p.Cys1275TrpfsTer5) c.3920dup (p.Cys1307TrpfsTer5) c.3770dup (p.Cys1257TrpfsTer5) | |
| 5 | g.128335221A>C | CA360757402 | FBN2 | n.706T>G n.787T>G c.3922T>G (p.Cys1308Gly) c.472T>G (p.Cys158Gly) c.3823T>G (p.Cys1275Gly) c.3919T>G (p.Cys1307Gly) c.3769T>G (p.Cys1257Gly) | |
| 5 | g.128335221A>G | CA360757403 | FBN2 | n.706T>C n.787T>C c.3922T>C (p.Cys1308Arg) c.472T>C (p.Cys158Arg) c.3823T>C (p.Cys1275Arg) c.3919T>C (p.Cys1307Arg) c.3769T>C (p.Cys1257Arg) | |
| 5 | g.128335221A>T | CA360757404 | FBN2 | n.706T>A n.787T>A c.3922T>A (p.Cys1308Ser) c.472T>A (p.Cys158Ser) c.3823T>A (p.Cys1275Ser) c.3919T>A (p.Cys1307Ser) c.3769T>A (p.Cys1257Ser) | |
| 5 | g.128335222G>A | CA446310063 | FBN2 | n.705C>T n.786C>T c.3921C>T (p.Arg1307=) c.471C>T (p.Arg157=) c.3822C>T (p.Arg1274=) c.3918C>T (p.Arg1306=) c.3768C>T (p.Arg1256=) | |
| 5 | g.128335222G>C | CA446310064 | FBN2 | n.705C>G n.786C>G c.3921C>G (p.Arg1307=) c.471C>G (p.Arg157=) c.3822C>G (p.Arg1274=) c.3918C>G (p.Arg1306=) c.3768C>G (p.Arg1256=) | ClinVar |
| 5 | g.128335222G>T | CA446310065 | FBN2 | n.705C>A n.786C>A c.3921C>A (p.Arg1307=) c.471C>A (p.Arg157=) c.3822C>A (p.Arg1274=) c.3918C>A (p.Arg1306=) c.3768C>A (p.Arg1256=) | |
| 5 | g.128335223C>A | CA360757405 | FBN2 | n.704G>T n.785G>T c.3920G>T (p.Arg1307Leu) c.470G>T (p.Arg157Leu) c.3821G>T (p.Arg1274Leu) c.3917G>T (p.Arg1306Leu) c.3767G>T (p.Arg1256Leu) | gnomAD v4 |
| 5 | g.128335223C= | CA1581269485 | FBN2 | n.704G= n.785G= c.3920G= (p.Arg1307=) c.470G= (p.Arg157=) c.3821G= (p.Arg1274=) c.3917G= (p.Arg1306=) c.3767G= (p.Arg1256=) | |
| 5 | g.128335223C>G | CA360757406 | FBN2 | n.704G>C n.785G>C c.3920G>C (p.Arg1307Pro) c.470G>C (p.Arg157Pro) c.3821G>C (p.Arg1274Pro) c.3917G>C (p.Arg1306Pro) c.3767G>C (p.Arg1256Pro) | |
| 5 | g.128335223C>T | CA3395101 | FBN2 | n.704G>A n.785G>A c.3920G>A (p.Arg1307His) c.470G>A (p.Arg157His) c.3821G>A (p.Arg1274His) c.3917G>A (p.Arg1306His) c.3767G>A (p.Arg1256His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335224G>A | CA127008422 | FBN2 | n.703C>T n.784C>T c.3919C>T (p.Arg1307Cys) c.469C>T (p.Arg157Cys) c.3820C>T (p.Arg1274Cys) c.3916C>T (p.Arg1306Cys) c.3766C>T (p.Arg1256Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335224G>C | CA360757407 | FBN2 | n.703C>G n.784C>G c.3919C>G (p.Arg1307Gly) c.469C>G (p.Arg157Gly) c.3820C>G (p.Arg1274Gly) c.3916C>G (p.Arg1306Gly) c.3766C>G (p.Arg1256Gly) | |
| 5 | g.128335224G= | CA1581269486 | FBN2 | n.703C= n.784C= c.3919C= (p.Arg1307=) c.469C= (p.Arg157=) c.3820C= (p.Arg1274=) c.3916C= (p.Arg1306=) c.3766C= (p.Arg1256=) | |
| 5 | g.128335224G>T | CA360757408 | FBN2 | n.703C>A n.784C>A c.3919C>A (p.Arg1307Ser) c.469C>A (p.Arg157Ser) c.3820C>A (p.Arg1274Ser) c.3916C>A (p.Arg1306Ser) c.3766C>A (p.Arg1256Ser) | |
| 5 | g.128335225A>C | CA360757409 | FBN2 | n.702T>G n.783T>G c.3918T>G (p.Tyr1306Ter) c.468T>G (p.Tyr156Ter) c.3819T>G (p.Tyr1273Ter) c.3915T>G (p.Tyr1305Ter) c.3765T>G (p.Tyr1255Ter) | |
| 5 | g.128335225A>G | CA446310066 | FBN2 | n.702T>C n.783T>C c.3918T>C (p.Tyr1306=) c.468T>C (p.Tyr156=) c.3819T>C (p.Tyr1273=) c.3915T>C (p.Tyr1305=) c.3765T>C (p.Tyr1255=) | |
| 5 | g.128335225A>T | CA360757410 | FBN2 | n.702T>A n.783T>A c.3918T>A (p.Tyr1306Ter) c.468T>A (p.Tyr156Ter) c.3819T>A (p.Tyr1273Ter) c.3915T>A (p.Tyr1305Ter) c.3765T>A (p.Tyr1255Ter) | |
| 5 | g.128335226T>A | CA360757413 | FBN2 | n.701A>T n.782A>T c.3917A>T (p.Tyr1306Phe) c.467A>T (p.Tyr156Phe) c.3818A>T (p.Tyr1273Phe) c.3914A>T (p.Tyr1305Phe) c.3764A>T (p.Tyr1255Phe) | |
| 5 | g.128335226T>C | CA360757412 | FBN2 | n.701A>G n.782A>G c.3917A>G (p.Tyr1306Cys) c.467A>G (p.Tyr156Cys) c.3818A>G (p.Tyr1273Cys) c.3914A>G (p.Tyr1305Cys) c.3764A>G (p.Tyr1255Cys) | |
| 5 | g.128335226T>G | CA360757411 | FBN2 | n.701A>C n.782A>C c.3917A>C (p.Tyr1306Ser) c.467A>C (p.Tyr156Ser) c.3818A>C (p.Tyr1273Ser) c.3914A>C (p.Tyr1305Ser) c.3764A>C (p.Tyr1255Ser) | |
| 5 | g.128335227A>C | CA360757414 | FBN2 | n.700T>G n.781T>G c.3916T>G (p.Tyr1306Asp) c.466T>G (p.Tyr156Asp) c.3817T>G (p.Tyr1273Asp) c.3913T>G (p.Tyr1305Asp) c.3763T>G (p.Tyr1255Asp) | |
| 5 | g.128335227A>G | CA360757416 | FBN2 | n.700T>C n.781T>C c.3916T>C (p.Tyr1306His) c.466T>C (p.Tyr156His) c.3817T>C (p.Tyr1273His) c.3913T>C (p.Tyr1305His) c.3763T>C (p.Tyr1255His) | |
| 5 | g.128335227A>T | CA360757415 | FBN2 | n.700T>A n.781T>A c.3916T>A (p.Tyr1306Asn) c.466T>A (p.Tyr156Asn) c.3817T>A (p.Tyr1273Asn) c.3913T>A (p.Tyr1305Asn) c.3763T>A (p.Tyr1255Asn) | |
| 5 | g.128335228C>A | CA360757417 | FBN2 | n.699G>T n.780G>T c.3915G>T (p.Glu1305Asp) c.465G>T (p.Glu155Asp) c.3816G>T (p.Glu1272Asp) c.3912G>T (p.Glu1304Asp) c.3762G>T (p.Glu1254Asp) | |
| 5 | g.128335228C= | CA1581269487 | FBN2 | n.699G= n.780G= c.3915G= (p.Glu1305=) c.465G= (p.Glu155=) c.3816G= (p.Glu1272=) c.3912G= (p.Glu1304=) c.3762G= (p.Glu1254=) | |
| 5 | g.128335228C>G | CA360757418 | FBN2 | n.699G>C n.780G>C c.3915G>C (p.Glu1305Asp) c.465G>C (p.Glu155Asp) c.3816G>C (p.Glu1272Asp) c.3912G>C (p.Glu1304Asp) c.3762G>C (p.Glu1254Asp) | |
| 5 | g.128335228C>T | CA127008426 | FBN2 | n.699G>A n.780G>A c.3915G>A (p.Glu1305=) c.465G>A (p.Glu155=) c.3816G>A (p.Glu1272=) c.3912G>A (p.Glu1304=) c.3762G>A (p.Glu1254=) | ClinVar dbSNP |
| 5 | g.128335229T>A | CA360757419 | FBN2 | n.698A>T n.779A>T c.3914A>T (p.Glu1305Val) c.464A>T (p.Glu155Val) c.3815A>T (p.Glu1272Val) c.3911A>T (p.Glu1304Val) c.3761A>T (p.Glu1254Val) | |
| 5 | g.128335229T>C | CA3395102 | FBN2 | n.698A>G n.779A>G c.3914A>G (p.Glu1305Gly) c.464A>G (p.Glu155Gly) c.3815A>G (p.Glu1272Gly) c.3911A>G (p.Glu1304Gly) c.3761A>G (p.Glu1254Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335229T>G | CA360757420 | FBN2 | n.698A>C n.779A>C c.3914A>C (p.Glu1305Ala) c.464A>C (p.Glu155Ala) c.3815A>C (p.Glu1272Ala) c.3911A>C (p.Glu1304Ala) c.3761A>C (p.Glu1254Ala) | |
| 5 | g.128335229T= | CA1581269488 | FBN2 | n.698A= n.779A= c.3914A= (p.Glu1305=) c.464A= (p.Glu155=) c.3815A= (p.Glu1272=) c.3911A= (p.Glu1304=) c.3761A= (p.Glu1254=) | |
| 5 | g.128335230C>A | CA360757421 | FBN2 | n.697G>T n.778G>T c.3913G>T (p.Glu1305Ter) c.463G>T (p.Glu155Ter) c.3814G>T (p.Glu1272Ter) c.3910G>T (p.Glu1304Ter) c.3760G>T (p.Glu1254Ter) | |
| 5 | g.128335230C>G | CA360757422 | FBN2 | n.697G>C n.778G>C c.3913G>C (p.Glu1305Gln) c.463G>C (p.Glu155Gln) c.3814G>C (p.Glu1272Gln) c.3910G>C (p.Glu1304Gln) c.3760G>C (p.Glu1254Gln) | |
| 5 | g.128335230C>T | CA360757423 | FBN2 | n.697G>A n.778G>A c.3913G>A (p.Glu1305Lys) c.463G>A (p.Glu155Lys) c.3814G>A (p.Glu1272Lys) c.3910G>A (p.Glu1304Lys) c.3760G>A (p.Glu1254Lys) | |
| 5 | g.128335231T>A | CA446310067 | FBN2 | n.696A>T n.777A>T c.3912A>T (p.Gly1304=) c.462A>T (p.Gly154=) c.3813A>T (p.Gly1271=) c.3909A>T (p.Gly1303=) c.3759A>T (p.Gly1253=) | |
| 5 | g.128335231T>C | CA446310068 | FBN2 | n.696A>G n.777A>G c.3912A>G (p.Gly1304=) c.462A>G (p.Gly154=) c.3813A>G (p.Gly1271=) c.3909A>G (p.Gly1303=) c.3759A>G (p.Gly1253=) | |
| 5 | g.128335231T>G | CA446310069 | FBN2 | n.696A>C n.777A>C c.3912A>C (p.Gly1304=) c.462A>C (p.Gly154=) c.3813A>C (p.Gly1271=) c.3909A>C (p.Gly1303=) c.3759A>C (p.Gly1253=) | |
| 5 | g.128335232C>A | CA360757424 | FBN2 | n.695G>T n.776G>T c.3911G>T (p.Gly1304Val) c.461G>T (p.Gly154Val) c.3812G>T (p.Gly1271Val) c.3908G>T (p.Gly1303Val) c.3758G>T (p.Gly1253Val) | gnomAD v4 |
| 5 | g.128335232C>G | CA360757425 | FBN2 | n.695G>C n.776G>C c.3911G>C (p.Gly1304Ala) c.461G>C (p.Gly154Ala) c.3812G>C (p.Gly1271Ala) c.3908G>C (p.Gly1303Ala) c.3758G>C (p.Gly1253Ala) | |
| 5 | g.128335232C>T | CA360757426 | FBN2 | n.695G>A n.776G>A c.3911G>A (p.Gly1304Glu) c.461G>A (p.Gly154Glu) c.3812G>A (p.Gly1271Glu) c.3908G>A (p.Gly1303Glu) c.3758G>A (p.Gly1253Glu) | |
| 5 | g.128335233C>A | CA360757429 | FBN2 | n.694G>T n.775G>T c.3910G>T (p.Gly1304Ter) c.460G>T (p.Gly154Ter) c.3811G>T (p.Gly1271Ter) c.3907G>T (p.Gly1303Ter) c.3757G>T (p.Gly1253Ter) | |
| 5 | g.128335233C= | CA1581269489 | FBN2 | n.694G= n.775G= c.3910G= (p.Gly1304=) c.460G= (p.Gly154=) c.3811G= (p.Gly1271=) c.3907G= (p.Gly1303=) c.3757G= (p.Gly1253=) | |
| 5 | g.128335233C>G | CA360757427 | FBN2 | n.694G>C n.775G>C c.3910G>C (p.Gly1304Arg) c.460G>C (p.Gly154Arg) c.3811G>C (p.Gly1271Arg) c.3907G>C (p.Gly1303Arg) c.3757G>C (p.Gly1253Arg) | |
| 5 | g.128335233C>T | CA360757428 | FBN2 | n.694G>A n.775G>A c.3910G>A (p.Gly1304Arg) c.460G>A (p.Gly154Arg) c.3811G>A (p.Gly1271Arg) c.3907G>A (p.Gly1303Arg) c.3757G>A (p.Gly1253Arg) | dbSNP gnomAD v4 |
| 5 | g.128335234A>C | CA446310070 | FBN2 | n.693T>G n.774T>G c.3909T>G (p.Pro1303=) c.459T>G (p.Pro153=) c.3810T>G (p.Pro1270=) c.3906T>G (p.Pro1302=) c.3756T>G (p.Pro1252=) | |
| 5 | g.128335234A>G | CA446310071 | FBN2 | n.693T>C n.774T>C c.3909T>C (p.Pro1303=) c.459T>C (p.Pro153=) c.3810T>C (p.Pro1270=) c.3906T>C (p.Pro1302=) c.3756T>C (p.Pro1252=) | ClinVar |
| 5 | g.128335234A>T | CA446310072 | FBN2 | n.693T>A n.774T>A c.3909T>A (p.Pro1303=) c.459T>A (p.Pro153=) c.3810T>A (p.Pro1270=) c.3906T>A (p.Pro1302=) c.3756T>A (p.Pro1252=) | |
| 5 | g.128335235G>A | CA3395103 | FBN2 | n.692C>T n.773C>T c.3908C>T (p.Pro1303Leu) c.458C>T (p.Pro153Leu) c.3809C>T (p.Pro1270Leu) c.3905C>T (p.Pro1302Leu) c.3755C>T (p.Pro1252Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335235G>C | CA360757430 | FBN2 | n.692C>G n.773C>G c.3908C>G (p.Pro1303Arg) c.458C>G (p.Pro153Arg) c.3809C>G (p.Pro1270Arg) c.3905C>G (p.Pro1302Arg) c.3755C>G (p.Pro1252Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335235G= | CA1581269490 | FBN2 | n.692C= n.773C= c.3908C= (p.Pro1303=) c.458C= (p.Pro153=) c.3809C= (p.Pro1270=) c.3905C= (p.Pro1302=) c.3755C= (p.Pro1252=) | |
| 5 | g.128335235G>T | CA360757431 | FBN2 | n.692C>A n.773C>A c.3908C>A (p.Pro1303His) c.458C>A (p.Pro153His) c.3809C>A (p.Pro1270His) c.3905C>A (p.Pro1302His) c.3755C>A (p.Pro1252His) | gnomAD v4 |
| 5 | g.128335236G>A | CA360757432 | FBN2 | n.691C>T n.772C>T c.3907C>T (p.Pro1303Ser) c.457C>T (p.Pro153Ser) c.3808C>T (p.Pro1270Ser) c.3904C>T (p.Pro1302Ser) c.3754C>T (p.Pro1252Ser) | |
| 5 | g.128335236G>C | CA360757433 | FBN2 | n.691C>G n.772C>G c.3907C>G (p.Pro1303Ala) c.457C>G (p.Pro153Ala) c.3808C>G (p.Pro1270Ala) c.3904C>G (p.Pro1302Ala) c.3754C>G (p.Pro1252Ala) | |
| 5 | g.128335236G>T | CA360757434 | FBN2 | n.691C>A n.772C>A c.3907C>A (p.Pro1303Thr) c.457C>A (p.Pro153Thr) c.3808C>A (p.Pro1270Thr) c.3904C>A (p.Pro1302Thr) c.3754C>A (p.Pro1252Thr) | ClinVar dbSNP |
| 5 | g.128335237A= | CA1581269491 | FBN2 | n.690T= n.771T= c.3906T= (p.Ile1302=) c.456T= (p.Ile152=) c.3807T= (p.Ile1269=) c.3903T= (p.Ile1301=) c.3753T= (p.Ile1251=) | |
| 5 | g.128335237A>C | CA360757435 | FBN2 | n.690T>G n.771T>G c.3906T>G (p.Ile1302Met) c.456T>G (p.Ile152Met) c.3807T>G (p.Ile1269Met) c.3903T>G (p.Ile1301Met) c.3753T>G (p.Ile1251Met) | gnomAD v4 |
| 5 | g.128335237A>G | CA446310074 | FBN2 | n.690T>C n.771T>C c.3906T>C (p.Ile1302=) c.456T>C (p.Ile152=) c.3807T>C (p.Ile1269=) c.3903T>C (p.Ile1301=) c.3753T>C (p.Ile1251=) | |
| 5 | g.128335237A>T | CA446310073 | FBN2 | n.690T>A n.771T>A c.3906T>A (p.Ile1302=) c.456T>A (p.Ile152=) c.3807T>A (p.Ile1269=) c.3903T>A (p.Ile1301=) c.3753T>A (p.Ile1251=) | |
| 5 | g.128335238A>C | CA360757436 | FBN2 | n.689T>G n.770T>G c.3905T>G (p.Ile1302Ser) c.455T>G (p.Ile152Ser) c.3806T>G (p.Ile1269Ser) c.3902T>G (p.Ile1301Ser) c.3752T>G (p.Ile1251Ser) | |
| 5 | g.128335238A>G | CA360757437 | FBN2 | n.689T>C n.770T>C c.3905T>C (p.Ile1302Thr) c.455T>C (p.Ile152Thr) c.3806T>C (p.Ile1269Thr) c.3902T>C (p.Ile1301Thr) c.3752T>C (p.Ile1251Thr) | |
| 5 | g.128335238A>T | CA360757438 | FBN2 | n.689T>A n.770T>A c.3905T>A (p.Ile1302Asn) c.455T>A (p.Ile152Asn) c.3806T>A (p.Ile1269Asn) c.3902T>A (p.Ile1301Asn) c.3752T>A (p.Ile1251Asn) | |
| 5 | g.128335238_128335240dup | CA803636700 | FBN2 | n.687_689dup n.768_770dup c.3903_3905dup (p.Ile1302_Pro1303insIle) c.453_455dup (p.Ile152_Pro153insIle) c.3804_3806dup (p.Ile1269_Pro1270insIle) c.3900_3902dup (p.Ile1301_Pro1302insIle) c.3750_3752dup (p.Ile1251_Pro1252insIle) | dbSNP |
| 5 | g.128335239T>A | CA360757440 | FBN2 | n.688A>T n.769A>T c.3904A>T (p.Ile1302Phe) c.454A>T (p.Ile152Phe) c.3805A>T (p.Ile1269Phe) c.3901A>T (p.Ile1301Phe) c.3751A>T (p.Ile1251Phe) | |
| 5 | g.128335239T>C | CA360757441 | FBN2 | n.688A>G n.769A>G c.3904A>G (p.Ile1302Val) c.454A>G (p.Ile152Val) c.3805A>G (p.Ile1269Val) c.3901A>G (p.Ile1301Val) c.3751A>G (p.Ile1251Val) | |
| 5 | g.128335239T>G | CA360757439 | FBN2 | n.688A>C n.769A>C c.3904A>C (p.Ile1302Leu) c.454A>C (p.Ile152Leu) c.3805A>C (p.Ile1269Leu) c.3901A>C (p.Ile1301Leu) c.3751A>C (p.Ile1251Leu) | |
| 5 | g.128335240G>A | CA446310075 | FBN2 | n.687C>T n.768C>T c.3903C>T (p.Asn1301=) c.453C>T (p.Asn151=) c.3804C>T (p.Asn1268=) c.3900C>T (p.Asn1300=) c.3750C>T (p.Asn1250=) | gnomAD v4 |
| 5 | g.128335240G>C | CA360757442 | FBN2 | n.687C>G n.768C>G c.3903C>G (p.Asn1301Lys) c.453C>G (p.Asn151Lys) c.3804C>G (p.Asn1268Lys) c.3900C>G (p.Asn1300Lys) c.3750C>G (p.Asn1250Lys) | |
| 5 | g.128335240G>T | CA360757443 | FBN2 | n.687C>A n.768C>A c.3903C>A (p.Asn1301Lys) c.453C>A (p.Asn151Lys) c.3804C>A (p.Asn1268Lys) c.3900C>A (p.Asn1300Lys) c.3750C>A (p.Asn1250Lys) | |
| 5 | g.128335241T>A | CA360757444 | FBN2 | n.686A>T n.767A>T c.3902A>T (p.Asn1301Ile) c.452A>T (p.Asn151Ile) c.3803A>T (p.Asn1268Ile) c.3899A>T (p.Asn1300Ile) c.3749A>T (p.Asn1250Ile) | |
| 5 | g.128335241T>C | CA360757445 | FBN2 | n.686A>G n.767A>G c.3902A>G (p.Asn1301Ser) c.452A>G (p.Asn151Ser) c.3803A>G (p.Asn1268Ser) c.3899A>G (p.Asn1300Ser) c.3749A>G (p.Asn1250Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128335241T>G | CA127008443 | FBN2 | n.686A>C n.767A>C c.3902A>C (p.Asn1301Thr) c.452A>C (p.Asn151Thr) c.3803A>C (p.Asn1268Thr) c.3899A>C (p.Asn1300Thr) c.3749A>C (p.Asn1250Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335241T= | CA1581269492 | FBN2 | n.686A= n.767A= c.3902A= (p.Asn1301=) c.452A= (p.Asn151=) c.3803A= (p.Asn1268=) c.3899A= (p.Asn1300=) c.3749A= (p.Asn1250=) | |
| 5 | g.128335242T>A | CA360757446 | FBN2 | n.685A>T n.766A>T c.3901A>T (p.Asn1301Tyr) c.451A>T (p.Asn151Tyr) c.3802A>T (p.Asn1268Tyr) c.3898A>T (p.Asn1300Tyr) c.3748A>T (p.Asn1250Tyr) | |
| 5 | g.128335242T>C | CA360757447 | FBN2 | n.685A>G n.766A>G c.3901A>G (p.Asn1301Asp) c.451A>G (p.Asn151Asp) c.3802A>G (p.Asn1268Asp) c.3898A>G (p.Asn1300Asp) c.3748A>G (p.Asn1250Asp) | |
| 5 | g.128335242T>G | CA360757448 | FBN2 | n.685A>C n.766A>C c.3901A>C (p.Asn1301His) c.451A>C (p.Asn151His) c.3802A>C (p.Asn1268His) c.3898A>C (p.Asn1300His) c.3748A>C (p.Asn1250His) | |
| 5 | g.128335243G>A | CA446310076 | FBN2 | n.684C>T n.765C>T c.3900C>T (p.Thr1300=) c.450C>T (p.Thr150=) c.3801C>T (p.Thr1267=) c.3897C>T (p.Thr1299=) c.3747C>T (p.Thr1249=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.128335243G>C | CA3395104 | FBN2 | n.684C>G n.765C>G c.3900C>G (p.Thr1300=) c.450C>G (p.Thr150=) c.3801C>G (p.Thr1267=) c.3897C>G (p.Thr1299=) c.3747C>G (p.Thr1249=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335243G= | CA1581269493 | FBN2 | n.684C= n.765C= c.3900C= (p.Thr1300=) c.450C= (p.Thr150=) c.3801C= (p.Thr1267=) c.3897C= (p.Thr1299=) c.3747C= (p.Thr1249=) | |
| 5 | g.128335243G>T | CA446310077 | FBN2 | n.684C>A n.765C>A c.3900C>A (p.Thr1300=) c.450C>A (p.Thr150=) c.3801C>A (p.Thr1267=) c.3897C>A (p.Thr1299=) c.3747C>A (p.Thr1249=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335244G>A | CA360757449 | FBN2 | n.683C>T n.764C>T c.3899C>T (p.Thr1300Ile) c.449C>T (p.Thr150Ile) c.3800C>T (p.Thr1267Ile) c.3896C>T (p.Thr1299Ile) c.3746C>T (p.Thr1249Ile) | gnomAD v4 |
| 5 | g.128335244G>C | CA360757450 | FBN2 | n.683C>G n.764C>G c.3899C>G (p.Thr1300Ser) c.449C>G (p.Thr150Ser) c.3800C>G (p.Thr1267Ser) c.3896C>G (p.Thr1299Ser) c.3746C>G (p.Thr1249Ser) | gnomAD v4 |
| 5 | g.128335244G>T | CA360757451 | FBN2 | n.683C>A n.764C>A c.3899C>A (p.Thr1300Asn) c.449C>A (p.Thr150Asn) c.3800C>A (p.Thr1267Asn) c.3896C>A (p.Thr1299Asn) c.3746C>A (p.Thr1249Asn) | |
| 5 | g.128335245T>A | CA360757453 | FBN2 | n.682A>T n.763A>T c.3898A>T (p.Thr1300Ser) c.448A>T (p.Thr150Ser) c.3799A>T (p.Thr1267Ser) c.3895A>T (p.Thr1299Ser) c.3745A>T (p.Thr1249Ser) | |
| 5 | g.128335245T>C | CA360757454 | FBN2 | n.682A>G n.763A>G c.3898A>G (p.Thr1300Ala) c.448A>G (p.Thr150Ala) c.3799A>G (p.Thr1267Ala) c.3895A>G (p.Thr1299Ala) c.3745A>G (p.Thr1249Ala) | |
| 5 | g.128335245T>G | CA360757452 | FBN2 | n.682A>C n.763A>C c.3898A>C (p.Thr1300Pro) c.448A>C (p.Thr150Pro) c.3799A>C (p.Thr1267Pro) c.3895A>C (p.Thr1299Pro) c.3745A>C (p.Thr1249Pro) | |
| 5 | g.128335246A= | CA1581269494 | FBN2 | n.681T= n.762T= c.3897T= (p.Cys1299=) c.447T= (p.Cys149=) c.3798T= (p.Cys1266=) c.3894T= (p.Cys1298=) c.3744T= (p.Cys1248=) | |
| 5 | g.128335246A>C | CA360757455 | FBN2 | n.681T>G n.762T>G c.3897T>G (p.Cys1299Trp) c.447T>G (p.Cys149Trp) c.3798T>G (p.Cys1266Trp) c.3894T>G (p.Cys1298Trp) c.3744T>G (p.Cys1248Trp) | dbSNP |
| 5 | g.128335246A>G | CA446310078 | FBN2 | n.681T>C n.762T>C c.3897T>C (p.Cys1299=) c.447T>C (p.Cys149=) c.3798T>C (p.Cys1266=) c.3894T>C (p.Cys1298=) c.3744T>C (p.Cys1248=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335246A>T | CA360757456 | FBN2 | n.681T>A n.762T>A c.3897T>A (p.Cys1299Ter) c.447T>A (p.Cys149Ter) c.3798T>A (p.Cys1266Ter) c.3894T>A (p.Cys1298Ter) c.3744T>A (p.Cys1248Ter) | |
| 5 | g.128335247C>A | CA360757457 | FBN2 | n.680G>T n.761G>T c.3896G>T (p.Cys1299Phe) c.446G>T (p.Cys149Phe) c.3797G>T (p.Cys1266Phe) c.3893G>T (p.Cys1298Phe) c.3743G>T (p.Cys1248Phe) | |
| 5 | g.128335247C>G | CA360757458 | FBN2 | n.680G>C n.761G>C c.3896G>C (p.Cys1299Ser) c.446G>C (p.Cys149Ser) c.3797G>C (p.Cys1266Ser) c.3893G>C (p.Cys1298Ser) c.3743G>C (p.Cys1248Ser) | |
| 5 | g.128335247C>T | CA360757459 | FBN2 | n.680G>A n.761G>A c.3896G>A (p.Cys1299Tyr) c.446G>A (p.Cys149Tyr) c.3797G>A (p.Cys1266Tyr) c.3893G>A (p.Cys1298Tyr) c.3743G>A (p.Cys1248Tyr) | |
| 5 | g.128335248A>C | CA360757462 | FBN2 | n.679T>G n.760T>G c.3895T>G (p.Cys1299Gly) c.445T>G (p.Cys149Gly) c.3796T>G (p.Cys1266Gly) c.3892T>G (p.Cys1298Gly) c.3742T>G (p.Cys1248Gly) | |
| 5 | g.128335248A>G | CA360757460 | FBN2 | n.679T>C n.760T>C c.3895T>C (p.Cys1299Arg) c.445T>C (p.Cys149Arg) c.3796T>C (p.Cys1266Arg) c.3892T>C (p.Cys1298Arg) c.3742T>C (p.Cys1248Arg) | |
| 5 | g.128335248A>T | CA360757461 | FBN2 | n.679T>A n.760T>A c.3895T>A (p.Cys1299Ser) c.445T>A (p.Cys149Ser) c.3796T>A (p.Cys1266Ser) c.3892T>A (p.Cys1298Ser) c.3742T>A (p.Cys1248Ser) | |
| 5 | g.128335249C>A | CA360757463 | FBN2 | n.678G>T n.759G>T c.3894G>T (p.Gln1298His) c.444G>T (p.Gln148His) c.3795G>T (p.Gln1265His) c.3891G>T (p.Gln1297His) c.3741G>T (p.Gln1247His) | |
| 5 | g.128335249C>G | CA360757464 | FBN2 | n.678G>C n.759G>C c.3894G>C (p.Gln1298His) c.444G>C (p.Gln148His) c.3795G>C (p.Gln1265His) c.3891G>C (p.Gln1297His) c.3741G>C (p.Gln1247His) | COSMIC COSMIC |
| 5 | g.128335249C>T | CA446310079 | FBN2 | n.678G>A n.759G>A c.3894G>A (p.Gln1298=) c.444G>A (p.Gln148=) c.3795G>A (p.Gln1265=) c.3891G>A (p.Gln1297=) c.3741G>A (p.Gln1247=) | |
| 5 | g.128335250T>A | CA360757465 | FBN2 | n.677A>T n.758A>T c.3893A>T (p.Gln1298Leu) c.443A>T (p.Gln148Leu) c.3794A>T (p.Gln1265Leu) c.3890A>T (p.Gln1297Leu) c.3740A>T (p.Gln1247Leu) | |
| 5 | g.128335250T>C | CA360757466 | FBN2 | n.677A>G n.758A>G c.3893A>G (p.Gln1298Arg) c.443A>G (p.Gln148Arg) c.3794A>G (p.Gln1265Arg) c.3890A>G (p.Gln1297Arg) c.3740A>G (p.Gln1247Arg) | |
| 5 | g.128335250T>G | CA360757467 | FBN2 | n.677A>C n.758A>C c.3893A>C (p.Gln1298Pro) c.443A>C (p.Gln148Pro) c.3794A>C (p.Gln1265Pro) c.3890A>C (p.Gln1297Pro) c.3740A>C (p.Gln1247Pro) | gnomAD v4 |
| 5 | g.128335251G>A | CA360757470 | FBN2 | n.676C>T n.757C>T c.3892C>T (p.Gln1298Ter) c.442C>T (p.Gln148Ter) c.3793C>T (p.Gln1265Ter) c.3889C>T (p.Gln1297Ter) c.3739C>T (p.Gln1247Ter) | gnomAD v4 |
| 5 | g.128335251G>C | CA360757469 | FBN2 | n.676C>G n.757C>G c.3892C>G (p.Gln1298Glu) c.442C>G (p.Gln148Glu) c.3793C>G (p.Gln1265Glu) c.3889C>G (p.Gln1297Glu) c.3739C>G (p.Gln1247Glu) | |
| 5 | g.128335251G>T | CA360757468 | FBN2 | n.676C>A n.757C>A c.3892C>A (p.Gln1298Lys) c.442C>A (p.Gln148Lys) c.3793C>A (p.Gln1265Lys) c.3889C>A (p.Gln1297Lys) c.3739C>A (p.Gln1247Lys) | |
| 5 | g.128335252G>A | CA446310080 | FBN2 | n.675C>T n.756C>T c.3891C>T (p.Gly1297=) c.441C>T (p.Gly147=) c.3792C>T (p.Gly1264=) c.3888C>T (p.Gly1296=) c.3738C>T (p.Gly1246=) | |
| 5 | g.128335252G>C | CA446310081 | FBN2 | n.675C>G n.756C>G c.3891C>G (p.Gly1297=) c.441C>G (p.Gly147=) c.3792C>G (p.Gly1264=) c.3888C>G (p.Gly1296=) c.3738C>G (p.Gly1246=) | |
| 5 | g.128335252G= | CA1581269495 | FBN2 | n.675C= n.756C= c.3891C= (p.Gly1297=) c.441C= (p.Gly147=) c.3792C= (p.Gly1264=) c.3888C= (p.Gly1296=) c.3738C= (p.Gly1246=) | |
| 5 | g.128335252G>T | CA446310082 | FBN2 | n.675C>A n.756C>A c.3891C>A (p.Gly1297=) c.441C>A (p.Gly147=) c.3792C>A (p.Gly1264=) c.3888C>A (p.Gly1296=) c.3738C>A (p.Gly1246=) | dbSNP gnomAD v4 |
| 5 | g.128335253C>A | CA360757471 | FBN2 | n.674G>T n.755G>T c.3890G>T (p.Gly1297Val) c.440G>T (p.Gly147Val) c.3791G>T (p.Gly1264Val) c.3887G>T (p.Gly1296Val) c.3737G>T (p.Gly1246Val) | |
| 5 | g.128335253C= | CA1581269496 | FBN2 | n.674G= n.755G= c.3890G= (p.Gly1297=) c.440G= (p.Gly147=) c.3791G= (p.Gly1264=) c.3887G= (p.Gly1296=) c.3737G= (p.Gly1246=) | |
| 5 | g.128335253C>G | CA360757472 | FBN2 | n.674G>C n.755G>C c.3890G>C (p.Gly1297Ala) c.440G>C (p.Gly147Ala) c.3791G>C (p.Gly1264Ala) c.3887G>C (p.Gly1296Ala) c.3737G>C (p.Gly1246Ala) | |
| 5 | g.128335253C>T | CA127008453 | FBN2 | n.674G>A n.755G>A c.3890G>A (p.Gly1297Asp) c.440G>A (p.Gly147Asp) c.3791G>A (p.Gly1264Asp) c.3887G>A (p.Gly1296Asp) c.3737G>A (p.Gly1246Asp) | ClinVar dbSNP |
| 5 | g.128335254C>A | CA360757473 | FBN2 | n.673G>T n.754G>T c.3889G>T (p.Gly1297Cys) c.439G>T (p.Gly147Cys) c.3790G>T (p.Gly1264Cys) c.3886G>T (p.Gly1296Cys) c.3736G>T (p.Gly1246Cys) | ClinVar dbSNP |
| 5 | g.128335254C= | CA1581269497 | FBN2 | n.673G= n.754G= c.3889G= (p.Gly1297=) c.439G= (p.Gly147=) c.3790G= (p.Gly1264=) c.3886G= (p.Gly1296=) c.3736G= (p.Gly1246=) | |
| 5 | g.128335254C>G | CA360757474 | FBN2 | n.673G>C n.754G>C c.3889G>C (p.Gly1297Arg) c.439G>C (p.Gly147Arg) c.3790G>C (p.Gly1264Arg) c.3886G>C (p.Gly1296Arg) c.3736G>C (p.Gly1246Arg) | |
| 5 | g.128335254C>T | CA3395105 | FBN2 | n.673G>A n.754G>A c.3889G>A (p.Gly1297Ser) c.439G>A (p.Gly147Ser) c.3790G>A (p.Gly1264Ser) c.3886G>A (p.Gly1296Ser) c.3736G>A (p.Gly1246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335255G>A | CA3395106 | FBN2 | n.672C>T n.753C>T c.3888C>T (p.Gly1296=) c.438C>T (p.Gly146=) c.3789C>T (p.Gly1263=) c.3885C>T (p.Gly1295=) c.3735C>T (p.Gly1245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335255G>C | CA446310083 | FBN2 | n.672C>G n.753C>G c.3888C>G (p.Gly1296=) c.438C>G (p.Gly146=) c.3789C>G (p.Gly1263=) c.3885C>G (p.Gly1295=) c.3735C>G (p.Gly1245=) | |
| 5 | g.128335255G= | CA1581269498 | FBN2 | n.672C= n.753C= c.3888C= (p.Gly1296=) c.438C= (p.Gly146=) c.3789C= (p.Gly1263=) c.3885C= (p.Gly1295=) c.3735C= (p.Gly1245=) | |
| 5 | g.128335255G>T | CA446310084 | FBN2 | n.672C>A n.753C>A c.3888C>A (p.Gly1296=) c.438C>A (p.Gly146=) c.3789C>A (p.Gly1263=) c.3885C>A (p.Gly1295=) c.3735C>A (p.Gly1245=) | dbSNP |
| 5 | g.128335256C>A | CA360757475 | FBN2 | n.671G>T n.752G>T c.3887G>T (p.Gly1296Val) c.437G>T (p.Gly146Val) c.3788G>T (p.Gly1263Val) c.3884G>T (p.Gly1295Val) c.3734G>T (p.Gly1245Val) | |
| 5 | g.128335256C>G | CA360757476 | FBN2 | n.671G>C n.752G>C c.3887G>C (p.Gly1296Ala) c.437G>C (p.Gly146Ala) c.3788G>C (p.Gly1263Ala) c.3884G>C (p.Gly1295Ala) c.3734G>C (p.Gly1245Ala) | |
| 5 | g.128335256C>T | CA360757477 | FBN2 | n.671G>A n.752G>A c.3887G>A (p.Gly1296Asp) c.437G>A (p.Gly146Asp) c.3788G>A (p.Gly1263Asp) c.3884G>A (p.Gly1295Asp) c.3734G>A (p.Gly1245Asp) | |
| 5 | g.128335257C>A | CA360757478 | FBN2 | n.670G>T n.751G>T c.3886G>T (p.Gly1296Cys) c.436G>T (p.Gly146Cys) c.3787G>T (p.Gly1263Cys) c.3883G>T (p.Gly1295Cys) c.3733G>T (p.Gly1245Cys) | |
| 5 | g.128335257C>G | CA360757479 | FBN2 | n.670G>C n.751G>C c.3886G>C (p.Gly1296Arg) c.436G>C (p.Gly146Arg) c.3787G>C (p.Gly1263Arg) c.3883G>C (p.Gly1295Arg) c.3733G>C (p.Gly1245Arg) | |
| 5 | g.128335257C>T | CA360757480 | FBN2 | n.670G>A n.751G>A c.3886G>A (p.Gly1296Ser) c.436G>A (p.Gly146Ser) c.3787G>A (p.Gly1263Ser) c.3883G>A (p.Gly1295Ser) c.3733G>A (p.Gly1245Ser) | gnomAD v4 |
| 5 | g.128335258A= | CA1581269499 | FBN2 | n.669T= n.750T= c.3885T= (p.Asp1295=) c.435T= (p.Asp145=) c.3786T= (p.Asp1262=) c.3882T= (p.Asp1294=) c.3732T= (p.Asp1244=) | |
| 5 | g.128335258A>C | CA360757481 | FBN2 | n.669T>G n.750T>G c.3885T>G (p.Asp1295Glu) c.435T>G (p.Asp145Glu) c.3786T>G (p.Asp1262Glu) c.3882T>G (p.Asp1294Glu) c.3732T>G (p.Asp1244Glu) | |
| 5 | g.128335258A>G | CA446310085 | FBN2 | n.669T>C n.750T>C c.3885T>C (p.Asp1295=) c.435T>C (p.Asp145=) c.3786T>C (p.Asp1262=) c.3882T>C (p.Asp1294=) c.3732T>C (p.Asp1244=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335258A>T | CA360757482 | FBN2 | n.669T>A n.750T>A c.3885T>A (p.Asp1295Glu) c.435T>A (p.Asp145Glu) c.3786T>A (p.Asp1262Glu) c.3882T>A (p.Asp1294Glu) c.3732T>A (p.Asp1244Glu) | |
| 5 | g.128335259T>A | CA360757483 | FBN2 | n.668A>T n.749A>T c.3884A>T (p.Asp1295Val) c.434A>T (p.Asp145Val) c.3785A>T (p.Asp1262Val) c.3881A>T (p.Asp1294Val) c.3731A>T (p.Asp1244Val) | |
| 5 | g.128335259T>C | CA10587611 | FBN2 | n.668A>G n.749A>G c.3884A>G (p.Asp1295Gly) c.434A>G (p.Asp145Gly) c.3785A>G (p.Asp1262Gly) c.3881A>G (p.Asp1294Gly) c.3731A>G (p.Asp1244Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128335259T>G | CA360757484 | FBN2 | n.668A>C n.749A>C c.3884A>C (p.Asp1295Ala) c.434A>C (p.Asp145Ala) c.3785A>C (p.Asp1262Ala) c.3881A>C (p.Asp1294Ala) c.3731A>C (p.Asp1244Ala) | |
| 5 | g.128335259T= | CA1581269500 | FBN2 | n.668A= n.749A= c.3884A= (p.Asp1295=) c.434A= (p.Asp145=) c.3785A= (p.Asp1262=) c.3881A= (p.Asp1294=) c.3731A= (p.Asp1244=) | |
| 5 | g.128335260C>A | CA360757485 | FBN2 | n.667G>T n.748G>T c.3883G>T (p.Asp1295Tyr) c.433G>T (p.Asp145Tyr) c.3784G>T (p.Asp1262Tyr) c.3880G>T (p.Asp1294Tyr) c.3730G>T (p.Asp1244Tyr) | |
| 5 | g.128335260C= | CA1581269501 | FBN2 | n.667G= n.748G= c.3883G= (p.Asp1295=) c.433G= (p.Asp145=) c.3784G= (p.Asp1262=) c.3880G= (p.Asp1294=) c.3730G= (p.Asp1244=) | |
| 5 | g.128335260C>G | CA360757486 | FBN2 | n.667G>C n.748G>C c.3883G>C (p.Asp1295His) c.433G>C (p.Asp145His) c.3784G>C (p.Asp1262His) c.3880G>C (p.Asp1294His) c.3730G>C (p.Asp1244His) | |
| 5 | g.128335260C>T | CA324462 | FBN2 | n.667G>A n.748G>A c.3883G>A (p.Asp1295Asn) c.433G>A (p.Asp145Asn) c.3784G>A (p.Asp1262Asn) c.3880G>A (p.Asp1294Asn) c.3730G>A (p.Asp1244Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |