Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48503842_48503848del | CA2695220766 | FBN1 | c.2052_2058del (p.Cys684Ter) n.726_732del c.637-29198_637-29192del (n.637-29198_637-29192del) | |
15 | g.48503848_48503853del | CA2695220767 | FBN1 | c.2050_2055del (p.Cys684_Cys685del) n.724_729del c.637-29200_637-29195del (n.637-29200_637-29195del) | |
15 | g.48503846_48503850dup | CA16619971 | FBN1 | c.2050_2054dup (p.Ala686ValfsTer?) n.724_728dup c.637-29200_637-29196dup (n.637-29200_637-29196dup) | ClinVar dbSNP |
15 | g.48503847A= | CA2175526575 | FBN1 | c.2053T= (p.Cys685=) n.727T= c.637-29197T= (n.637-29197T=) | |
15 | g.48503847A>C | CA392338291 | FBN1 | c.2053T>G (p.Cys685Gly) n.727T>G c.637-29197T>G (n.637-29197T>G) | |
15 | g.48503847A>G | CA392338294 | FBN1 | c.2053T>C (p.Cys685Arg) n.727T>C c.637-29197T>C (n.637-29197T>C) | ClinVar dbSNP |
15 | g.48503847A>T | CA392338297 | FBN1 | c.2053T>A (p.Cys685Ser) n.727T>A c.637-29197T>A (n.637-29197T>A) | ClinVar dbSNP |
15 | g.48503848A>C | CA392338302 | FBN1 | c.2052T>G (p.Cys684Trp) n.726T>G c.637-29198T>G (n.637-29198T>G) | |
15 | g.48503848A>G | CA490024184 | FBN1 | c.2052T>C (p.Cys684=) n.726T>C c.637-29198T>C (n.637-29198T>C) | |
15 | g.48503848A>T | CA392338303 | FBN1 | c.2052T>A (p.Cys684Ter) n.726T>A c.637-29198T>A (n.637-29198T>A) | |
15 | g.48503854_48503872del | CA1139532474 | FBN1 | c.2034_2052del (p.Thr679AlafsTer?) n.708_726del c.637-29216_637-29198del (n.637-29216_637-29198del) | ClinVar |
15 | g.48503849C>A | CA392338312 | FBN1 | c.2051G>T (p.Cys684Phe) n.725G>T c.637-29199G>T (n.637-29199G>T) | ClinVar dbSNP |
15 | g.48503849C= | CA2175526583 | FBN1 | c.2051G= (p.Cys684=) n.725G= c.637-29199G= (n.637-29199G=) | |
15 | g.48503849C>G | CA392338308 | FBN1 | c.2051G>C (p.Cys684Ser) n.725G>C c.637-29199G>C (n.637-29199G>C) | ClinVar dbSNP |
15 | g.48503849C>T | CA392338310 | FBN1 | c.2051G>A (p.Cys684Tyr) n.725G>A c.637-29199G>A (n.637-29199G>A) | ClinVar dbSNP |
15 | g.48503850A= | CA2175526586 | FBN1 | c.2050T= (p.Cys684=) n.724T= c.637-29200T= (n.637-29200T=) | |
15 | g.48503850A>C | CA392338317 | FBN1 | c.2050T>G (p.Cys684Gly) n.724T>G c.637-29200T>G (n.637-29200T>G) | |
15 | g.48503850A>G | CA392338320 | FBN1 | c.2050T>C (p.Cys684Arg) n.724T>C c.637-29200T>C (n.637-29200T>C) | ClinVar dbSNP |
15 | g.48503850A>T | CA392338322 | FBN1 | c.2050T>A (p.Cys684Ser) n.724T>A c.637-29200T>A (n.637-29200T>A) | |
15 | g.48503851G>A | CA490024185 | FBN1 | c.2049C>T (p.Cys683=) n.723C>T c.637-29201C>T (n.637-29201C>T) | |
15 | g.48503851G>C | CA392338326 | FBN1 | c.2049C>G (p.Cys683Trp) n.723C>G c.637-29201C>G (n.637-29201C>G) | ClinVar |
15 | g.48503851G>T | CA392338331 | FBN1 | c.2049C>A (p.Cys683Ter) n.723C>A c.637-29201C>A (n.637-29201C>A) | |
15 | g.48503852C>A | CA392338333 | FBN1 | c.2048G>T (p.Cys683Phe) n.722G>T c.637-29202G>T (n.637-29202G>T) | |
15 | g.48503852C>G | CA392338335 | FBN1 | c.2048G>C (p.Cys683Ser) n.722G>C c.637-29202G>C (n.637-29202G>C) | |
15 | g.48503852C>T | CA392338336 | FBN1 | c.2048G>A (p.Cys683Tyr) n.722G>A c.637-29202G>A (n.637-29202G>A) | ClinVar dbSNP COSMIC |
15 | g.48503852dup | CA2840409840 | FBN1 | c.2048dup (p.Cys683TrpfsTer7) n.722dup c.637-29202dup (n.637-29202dup) | |
15 | g.48503854_48503857del | CA2695202074 | FBN1 | c.2045_2048del (p.Glu682AlafsTer?) n.719_722del c.637-29205_637-29202del (n.637-29205_637-29202del) | |
15 | g.48503853A>C | CA392338341 | FBN1 | c.2047T>G (p.Cys683Gly) n.721T>G c.637-29203T>G (n.637-29203T>G) | |
15 | g.48503853A>G | CA392338343 | FBN1 | c.2047T>C (p.Cys683Arg) n.721T>C c.637-29203T>C (n.637-29203T>C) | COSMIC |
15 | g.48503853A>T | CA392338347 | FBN1 | c.2047T>A (p.Cys683Ser) n.721T>A c.637-29203T>A (n.637-29203T>A) | |
15 | g.48503854T>A | CA392338351 | FBN1 | c.2046A>T (p.Glu682Asp) n.720A>T c.637-29204A>T (n.637-29204A>T) | |
15 | g.48503854T>C | CA490024187 | FBN1 | c.2046A>G (p.Glu682=) n.720A>G c.637-29204A>G (n.637-29204A>G) | |
15 | g.48503854T>G | CA392338354 | FBN1 | c.2046A>C (p.Glu682Asp) n.720A>C c.637-29204A>C (n.637-29204A>C) | dbSNP |
15 | g.48503854T= | CA2175526590 | FBN1 | c.2046A= (p.Glu682=) n.720A= c.637-29204A= (n.637-29204A=) | |
15 | g.48503855T>A | CA392338364 | FBN1 | c.2045A>T (p.Glu682Val) n.719A>T c.637-29205A>T (n.637-29205A>T) | |
15 | g.48503855T>C | CA392338361 | FBN1 | c.2045A>G (p.Glu682Gly) n.719A>G c.637-29205A>G (n.637-29205A>G) | |
15 | g.48503855T>G | CA392338358 | FBN1 | c.2045A>C (p.Glu682Ala) n.719A>C c.637-29205A>C (n.637-29205A>C) | |
15 | g.48503856C>A | CA392338368 | FBN1 | c.2044G>T (p.Glu682Ter) n.718G>T c.637-29206G>T (n.637-29206G>T) | |
15 | g.48503856C= | CA2175526593 | FBN1 | c.2044G= (p.Glu682=) n.718G= c.637-29206G= (n.637-29206G=) | |
15 | g.48503856C>G | CA269548980 | FBN1 | c.2044G>C (p.Glu682Gln) n.718G>C c.637-29206G>C (n.637-29206G>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48503856C>T | CA392338371 | FBN1 | c.2044G>A (p.Glu682Lys) n.718G>A c.637-29206G>A (n.637-29206G>A) | gnomAD v4 COSMIC |
15 | g.48503857A= | CA2175526596 | FBN1 | c.2043T= (p.Ser681=) n.717T= c.637-29207T= (n.637-29207T=) | |
15 | g.48503857A>C | CA490024189 | FBN1 | c.2043T>G (p.Ser681=) n.717T>G c.637-29207T>G (n.637-29207T>G) | |
15 | g.48503857A>G | CA046617 | FBN1 | c.2043T>C (p.Ser681=) n.717T>C c.637-29207T>C (n.637-29207T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503857A>T | CA490024188 | FBN1 | c.2043T>A (p.Ser681=) n.717T>A c.637-29207T>A (n.637-29207T>A) | |
15 | g.48503858G>A | CA392338377 | FBN1 | c.2042C>T (p.Ser681Phe) n.716C>T c.637-29208C>T (n.637-29208C>T) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503858G>C | CA392338379 | FBN1 | c.2042C>G (p.Ser681Cys) n.716C>G c.637-29208C>G (n.637-29208C>G) | |
15 | g.48503858G= | CA2175526600 | FBN1 | c.2042C= (p.Ser681=) n.716C= c.637-29208C= (n.637-29208C=) | |
15 | g.48503858G>T | CA392338381 | FBN1 | c.2042C>A (p.Ser681Tyr) n.716C>A c.637-29208C>A (n.637-29208C>A) | ClinVar dbSNP |
15 | g.48503859A>C | CA392338385 | FBN1 | c.2041T>G (p.Ser681Ala) n.715T>G c.637-29209T>G (n.637-29209T>G) | |
15 | g.48503859A>G | CA392338386 | FBN1 | c.2041T>C (p.Ser681Pro) n.715T>C c.637-29209T>C (n.637-29209T>C) | |
15 | g.48503859A>T | CA392338389 | FBN1 | c.2041T>A (p.Ser681Thr) n.715T>A c.637-29209T>A (n.637-29209T>A) | |
15 | g.48503860T>A | CA392338393 | FBN1 | c.2040A>T (p.Lys680Asn) n.714A>T c.637-29210A>T (n.637-29210A>T) | |
15 | g.48503860T>C | CA490024190 | FBN1 | c.2040A>G (p.Lys680=) n.714A>G c.637-29210A>G (n.637-29210A>G) | |
15 | g.48503860T>G | CA392338395 | FBN1 | c.2040A>C (p.Lys680Asn) n.714A>C c.637-29210A>C (n.637-29210A>C) | |
15 | g.48503861T>A | CA392338398 | FBN1 | c.2039A>T (p.Lys680Ile) n.713A>T c.637-29211A>T (n.637-29211A>T) | |
15 | g.48503861T>C | CA392338401 | FBN1 | c.2039A>G (p.Lys680Arg) n.713A>G c.637-29211A>G (n.637-29211A>G) | |
15 | g.48503861T>G | CA392338403 | FBN1 | c.2039A>C (p.Lys680Thr) n.713A>C c.637-29211A>C (n.637-29211A>C) | |
15 | g.48503862T>A | CA392338413 | FBN1 | c.2038A>T (p.Lys680Ter) n.712A>T c.637-29212A>T (n.637-29212A>T) | |
15 | g.48503862T>C | CA392338407 | FBN1 | c.2038A>G (p.Lys680Glu) n.712A>G c.637-29212A>G (n.637-29212A>G) | ClinVar |
15 | g.48503862T>G | CA392338410 | FBN1 | c.2038A>C (p.Lys680Gln) n.712A>C c.637-29212A>C (n.637-29212A>C) | |
15 | g.48503863A>C | CA490024191 | FBN1 | c.2037T>G (p.Thr679=) n.711T>G c.637-29213T>G (n.637-29213T>G) | |
15 | g.48503863A>G | CA490024192 | FBN1 | c.2037T>C (p.Thr679=) n.711T>C c.637-29213T>C (n.637-29213T>C) | |
15 | g.48503863A>T | CA490024193 | FBN1 | c.2037T>A (p.Thr679=) n.711T>A c.637-29213T>A (n.637-29213T>A) | |
15 | g.48503864G>A | CA392338416 | FBN1 | c.2036C>T (p.Thr679Ile) n.710C>T c.637-29214C>T (n.637-29214C>T) | |
15 | g.48503864G>C | CA392338419 | FBN1 | c.2036C>G (p.Thr679Ser) n.710C>G c.637-29214C>G (n.637-29214C>G) | |
15 | g.48503864G>T | CA392338422 | FBN1 | c.2036C>A (p.Thr679Asn) n.710C>A c.637-29214C>A (n.637-29214C>A) | |
15 | g.48503865T>A | CA392338426 | FBN1 | c.2035A>T (p.Thr679Ser) n.709A>T c.637-29215A>T (n.637-29215A>T) | |
15 | g.48503865T>C | CA392338429 | FBN1 | c.2035A>G (p.Thr679Ala) n.709A>G c.637-29215A>G (n.637-29215A>G) | |
15 | g.48503865T>G | CA392338432 | FBN1 | c.2035A>C (p.Thr679Pro) n.709A>C c.637-29215A>C (n.637-29215A>C) | |
15 | g.48503866G>A | CA490024194 | FBN1 | c.2034C>T (p.Val678=) n.708C>T c.637-29216C>T (n.637-29216C>T) | |
15 | g.48503866G>C | CA490024195 | FBN1 | c.2034C>G (p.Val678=) n.708C>G c.637-29216C>G (n.637-29216C>G) | |
15 | g.48503866G>T | CA490024196 | FBN1 | c.2034C>A (p.Val678=) n.708C>A c.637-29216C>A (n.637-29216C>A) | |
15 | g.48503867A>C | CA392338434 | FBN1 | c.2033T>G (p.Val678Gly) n.707T>G c.637-29217T>G (n.637-29217T>G) | |
15 | g.48503867A>G | CA392338435 | FBN1 | c.2033T>C (p.Val678Ala) n.707T>C c.637-29217T>C (n.637-29217T>C) | |
15 | g.48503867A>T | CA392338437 | FBN1 | c.2033T>A (p.Val678Asp) n.707T>A c.637-29217T>A (n.637-29217T>A) | |
15 | g.48503868C>A | CA392338439 | FBN1 | c.2032G>T (p.Val678Phe) n.706G>T c.637-29218G>T (n.637-29218G>T) | |
15 | g.48503868C>G | CA392338441 | FBN1 | c.2032G>C (p.Val678Leu) n.706G>C c.637-29218G>C (n.637-29218G>C) | |
15 | g.48503868C>T | CA392338443 | FBN1 | c.2032G>A (p.Val678Ile) n.706G>A c.637-29218G>A (n.637-29218G>A) | |
15 | g.48503869A= | CA2175526604 | FBN1 | c.2031T= (p.Ala677=) n.705T= c.637-29219T= (n.637-29219T=) | |
15 | g.48503869A>C | CA490024197 | FBN1 | c.2031T>G (p.Ala677=) n.705T>G c.637-29219T>G (n.637-29219T>G) | |
15 | g.48503869A>G | CA490024198 | FBN1 | c.2031T>C (p.Ala677=) n.705T>C c.637-29219T>C (n.637-29219T>C) | ClinVar |
15 | g.48503869A>T | CA269548989 | FBN1 | c.2031T>A (p.Ala677=) n.705T>A c.637-29219T>A (n.637-29219T>A) | ClinVar dbSNP gnomAD v4 |
15 | g.48503870G>A | CA392338451 | FBN1 | c.2030C>T (p.Ala677Val) n.704C>T c.637-29220C>T (n.637-29220C>T) | |
15 | g.48503870G>C | CA392338446 | FBN1 | c.2030C>G (p.Ala677Gly) n.704C>G c.637-29220C>G (n.637-29220C>G) | |
15 | g.48503870G>T | CA392338448 | FBN1 | c.2030C>A (p.Ala677Asp) n.704C>A c.637-29220C>A (n.637-29220C>A) | |
15 | g.48503871C>A | CA392338452 | FBN1 | c.2029G>T (p.Ala677Ser) n.703G>T c.637-29221G>T (n.637-29221G>T) | |
15 | g.48503871C= | CA2175526610 | FBN1 | c.2029G= (p.Ala677=) n.703G= c.637-29221G= (n.637-29221G=) | |
15 | g.48503871C>G | CA392338455 | FBN1 | c.2029G>C (p.Ala677Pro) n.703G>C c.637-29221G>C (n.637-29221G>C) | |
15 | g.48503871C>T | CA392338457 | FBN1 | c.2029G>A (p.Ala677Thr) n.703G>A c.637-29221G>A (n.637-29221G>A) | |
15 | g.48503871_48503872insT | CA16614828 | FBN1 | c.2028_2029insA (p.Ala677SerfsTer4) n.702_703insA c.637-29222_637-29221insA (n.637-29222_637-29221insA) | ClinVar dbSNP |
15 | g.48503872A>C | CA490024199 | FBN1 | c.2028T>G (p.Gly676=) n.702T>G c.637-29222T>G (n.637-29222T>G) | |
15 | g.48503872A>G | CA490024200 | FBN1 | c.2028T>C (p.Gly676=) n.702T>C c.637-29222T>C (n.637-29222T>C) | |
15 | g.48503872A>T | CA490024201 | FBN1 | c.2028T>A (p.Gly676=) n.702T>A c.637-29222T>A (n.637-29222T>A) | |
15 | g.48503873C>A | CA392338461 | FBN1 | c.2027G>T (p.Gly676Val) n.701G>T c.637-29223G>T (n.637-29223G>T) | |
15 | g.48503873C= | CA2175526617 | FBN1 | c.2027G= (p.Gly676=) n.701G= c.637-29223G= (n.637-29223G=) | |
15 | g.48503873C>G | CA046605 | FBN1 | c.2027G>C (p.Gly676Ala) n.701G>C c.637-29223G>C (n.637-29223G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503873C>T | CA392338458 | FBN1 | c.2027G>A (p.Gly676Asp) n.701G>A c.637-29223G>A (n.637-29223G>A) | |
15 | g.48503873_48503877delinsCCAAA | CA2175526619 | FBN1 | c.2023_2027delinsTTTGG (p.Phe675=) n.697_701delinsTTTGG c.637-29227_637-29223delinsTTTGG (n.637-29227_637-29223delinsTTTGG) | |
15 | g.48503874C>A | CA392338463 | FBN1 | c.2026G>T (p.Gly676Cys) n.700G>T c.637-29224G>T (n.637-29224G>T) | ClinVar dbSNP |
15 | g.48503874C>G | CA392338465 | FBN1 | c.2026G>C (p.Gly676Arg) n.700G>C c.637-29224G>C (n.637-29224G>C) | |
15 | g.48503874C>T | CA392338467 | FBN1 | c.2026G>A (p.Gly676Ser) n.700G>A c.637-29224G>A (n.637-29224G>A) | |
15 | g.48503878_48503881del | CA10603348 | FBN1 | c.2023_2026del (p.Phe675ValfsTer?) n.697_700del c.637-29227_637-29224del (n.637-29227_637-29224del) | ClinVar dbSNP |
15 | g.48503875A>C | CA392338470 | FBN1 | c.2025T>G (p.Phe675Leu) n.699T>G c.637-29225T>G (n.637-29225T>G) | |
15 | g.48503875A>G | CA490024202 | FBN1 | c.2025T>C (p.Phe675=) n.699T>C c.637-29225T>C (n.637-29225T>C) | ClinVar |
15 | g.48503875A>T | CA392338472 | FBN1 | c.2025T>A (p.Phe675Leu) n.699T>A c.637-29225T>A (n.637-29225T>A) | |
15 | g.48503876A>C | CA392338474 | FBN1 | c.2024T>G (p.Phe675Cys) n.698T>G c.637-29226T>G (n.637-29226T>G) | |
15 | g.48503876A>G | CA392338478 | FBN1 | c.2024T>C (p.Phe675Ser) n.698T>C c.637-29226T>C (n.637-29226T>C) | |
15 | g.48503876A>T | CA392338476 | FBN1 | c.2024T>A (p.Phe675Tyr) n.698T>A c.637-29226T>A (n.637-29226T>A) | |
15 | g.48503877A>C | CA392338479 | FBN1 | c.2023T>G (p.Phe675Val) n.697T>G c.637-29227T>G (n.637-29227T>G) | |
15 | g.48503877A>G | CA392338481 | FBN1 | c.2023T>C (p.Phe675Leu) n.697T>C c.637-29227T>C (n.637-29227T>C) | |
15 | g.48503877A>T | CA392338483 | FBN1 | c.2023T>A (p.Phe675Ile) n.697T>A c.637-29227T>A (n.637-29227T>A) | |
15 | g.48503878C>A | CA392338485 | FBN1 | c.2022G>T (p.Leu674Phe) n.696G>T c.637-29228G>T (n.637-29228G>T) | ClinVar dbSNP gnomAD v4 |
15 | g.48503878C= | CA2175526627 | FBN1 | c.2022G= (p.Leu674=) n.696G= c.637-29228G= (n.637-29228G=) | |
15 | g.48503878C>G | CA012711 | FBN1 | c.2022G>C (p.Leu674Phe) n.696G>C c.637-29228G>C (n.637-29228G>C) | ClinVar dbSNP |
15 | g.48503878C>T | CA490024206 | FBN1 | c.2022G>A (p.Leu674=) n.696G>A c.637-29228G>A (n.637-29228G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.48503879A= | CA2175526631 | FBN1 | c.2021T= (p.Leu674=) n.695T= c.637-29229T= (n.637-29229T=) | |
15 | g.48503879A>C | CA392338492 | FBN1 | c.2021T>G (p.Leu674Trp) n.695T>G c.637-29229T>G (n.637-29229T>G) | |
15 | g.48503879A>G | CA392338496 | FBN1 | c.2021T>C (p.Leu674Ser) n.695T>C c.637-29229T>C (n.637-29229T>C) | dbSNP |
15 | g.48503879A>T | CA392338505 | FBN1 | c.2021T>A (p.Leu674Ter) n.695T>A c.637-29229T>A (n.637-29229T>A) | |
15 | g.48503881del | CA2580089581 | FBN1 | c.2021del (p.Leu674CysfsTer?) n.695del c.637-29229del (n.637-29229del) | ClinVar |
15 | g.48503880A= | CA2175526637 | FBN1 | c.2020T= (p.Leu674=) n.694T= c.637-29230T= (n.637-29230T=) | |
15 | g.48503880A>C | CA392338511 | FBN1 | c.2020T>G (p.Leu674Val) n.694T>G c.637-29230T>G (n.637-29230T>G) | |
15 | g.48503880A>G | CA046592 | FBN1 | c.2020T>C (p.Leu674=) n.694T>C c.637-29230T>C (n.637-29230T>C) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.48503880A>T | CA392338515 | FBN1 | c.2020T>A (p.Leu674Met) n.694T>A c.637-29230T>A (n.637-29230T>A) | |
15 | g.48503881A>C | CA490024215 | FBN1 | c.2019T>G (p.Pro673=) n.693T>G c.637-29231T>G (n.637-29231T>G) | |
15 | g.48503881A>G | CA490024218 | FBN1 | c.2019T>C (p.Pro673=) n.693T>C c.637-29231T>C (n.637-29231T>C) | |
15 | g.48503881A>T | CA490024220 | FBN1 | c.2019T>A (p.Pro673=) n.693T>A c.637-29231T>A (n.637-29231T>A) | |
15 | g.48503882G>A | CA392338519 | FBN1 | c.2018C>T (p.Pro673Leu) n.692C>T c.637-29232C>T (n.637-29232C>T) | |
15 | g.48503882G>C | CA392338524 | FBN1 | c.2018C>G (p.Pro673Arg) n.692C>G c.637-29232C>G (n.637-29232C>G) | |
15 | g.48503882G>T | CA392338522 | FBN1 | c.2018C>A (p.Pro673His) n.692C>A c.637-29232C>A (n.637-29232C>A) | |
15 | g.48503882_48503891delinsAGCACCAA | CA2580089583 | FBN1 | c.2009_2018delinsTTGGTGCT (p.Cys670PhefsTer10) n.683_692delinsTTGGTGCT c.637-29241_637-29232delinsTTGGTGCT (n.637-29241_637-29232delinsTTGGTGCT) | ClinVar |
15 | g.48503883G>A | CA269549034 | FBN1 | c.2017C>T (p.Pro673Ser) n.691C>T c.637-29233C>T (n.637-29233C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503883G>C | CA392338532 | FBN1 | c.2017C>G (p.Pro673Ala) n.691C>G c.637-29233C>G (n.637-29233C>G) | |
15 | g.48503883G= | CA2175526644 | FBN1 | c.2017C= (p.Pro673=) n.691C= c.637-29233C= (n.637-29233C=) | |
15 | g.48503883G>T | CA392338528 | FBN1 | c.2017C>A (p.Pro673Thr) n.691C>A c.637-29233C>A (n.637-29233C>A) | |
15 | g.48503884T>A | CA392338535 | FBN1 | c.2016A>T (p.Lys672Asn) n.690A>T c.637-29234A>T (n.637-29234A>T) | COSMIC |
15 | g.48503884T>C | CA490024235 | FBN1 | c.2016A>G (p.Lys672=) n.690A>G c.637-29234A>G (n.637-29234A>G) | |
15 | g.48503884T>G | CA392338538 | FBN1 | c.2016A>C (p.Lys672Asn) n.690A>C c.637-29234A>C (n.637-29234A>C) | |
15 | g.48503885T>A | CA392338543 | FBN1 | c.2015A>T (p.Lys672Ile) n.689A>T c.637-29235A>T (n.637-29235A>T) | |
15 | g.48503885T>C | CA392338546 | FBN1 | c.2015A>G (p.Lys672Arg) n.689A>G c.637-29235A>G (n.637-29235A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48503885T>G | CA392338549 | FBN1 | c.2015A>C (p.Lys672Thr) n.689A>C c.637-29235A>C (n.637-29235A>C) | |
15 | g.48503885T= | CA2175526651 | FBN1 | c.2015A= (p.Lys672=) n.689A= c.637-29235A= (n.637-29235A=) | |
15 | g.48503886T>A | CA392338554 | FBN1 | c.2014A>T (p.Lys672Ter) n.688A>T c.637-29236A>T (n.637-29236A>T) | |
15 | g.48503886T>C | CA392338557 | FBN1 | c.2014A>G (p.Lys672Glu) n.688A>G c.637-29236A>G (n.637-29236A>G) | |
15 | g.48503886T>G | CA392338560 | FBN1 | c.2014A>C (p.Lys672Gln) n.688A>C c.637-29236A>C (n.637-29236A>C) | |
15 | g.48503887G>A | CA490024254 | FBN1 | c.2013C>T (p.Ile671=) n.687C>T c.637-29237C>T (n.637-29237C>T) | |
15 | g.48503887G>C | CA392338563 | FBN1 | c.2013C>G (p.Ile671Met) n.687C>G c.637-29237C>G (n.637-29237C>G) | gnomAD v4 COSMIC |
15 | g.48503887G>T | CA490024249 | FBN1 | c.2013C>A (p.Ile671=) n.687C>A c.637-29237C>A (n.637-29237C>A) | |
15 | g.48503888A>C | CA392338565 | FBN1 | c.2012T>G (p.Ile671Ser) n.686T>G c.637-29238T>G (n.637-29238T>G) | |
15 | g.48503888A>G | CA392338568 | FBN1 | c.2012T>C (p.Ile671Thr) n.686T>C c.637-29238T>C (n.637-29238T>C) | |
15 | g.48503888A>T | CA392338571 | FBN1 | c.2012T>A (p.Ile671Asn) n.686T>A c.637-29238T>A (n.637-29238T>A) | |
15 | g.48503889T>A | CA392338575 | FBN1 | c.2011A>T (p.Ile671Phe) n.685A>T c.637-29239A>T (n.637-29239A>T) | |
15 | g.48503889T>C | CA392338576 | FBN1 | c.2011A>G (p.Ile671Val) n.685A>G c.637-29239A>G (n.637-29239A>G) | |
15 | g.48503889T>G | CA392338578 | FBN1 | c.2011A>C (p.Ile671Leu) n.685A>C c.637-29239A>C (n.637-29239A>C) | gnomAD v4 |
15 | g.48503890A>C | CA392338581 | FBN1 | c.2010T>G (p.Cys670Trp) n.684T>G c.637-29240T>G (n.637-29240T>G) | |
15 | g.48503890A>G | CA490024268 | FBN1 | c.2010T>C (p.Cys670=) n.684T>C c.637-29240T>C (n.637-29240T>C) | |
15 | g.48503890A>T | CA392338585 | FBN1 | c.2010T>A (p.Cys670Ter) n.684T>A c.637-29240T>A (n.637-29240T>A) | |
15 | g.48503891C>A | CA392338588 | FBN1 | c.2009G>T (p.Cys670Phe) n.683G>T c.637-29241G>T (n.637-29241G>T) | |
15 | g.48503891C>G | CA392338592 | FBN1 | c.2009G>C (p.Cys670Ser) n.683G>C c.637-29241G>C (n.637-29241G>C) | ClinVar |
15 | g.48503891C>T | CA392338594 | FBN1 | c.2009G>A (p.Cys670Tyr) n.683G>A c.637-29241G>A (n.637-29241G>A) | |
15 | g.48503892A= | CA2175526653 | FBN1 | c.2008T= (p.Cys670=) n.682T= c.637-29242T= (n.637-29242T=) | |
15 | g.48503892A>C | CA392338597 | FBN1 | c.2008T>G (p.Cys670Gly) n.682T>G c.637-29242T>G (n.637-29242T>G) | |
15 | g.48503892A>G | CA392338599 | FBN1 | c.2008T>C (p.Cys670Arg) n.682T>C c.637-29242T>C (n.637-29242T>C) | gnomAD v4 |
15 | g.48503892A>T | CA392338602 | FBN1 | c.2008T>A (p.Cys670Ser) n.682T>A c.637-29242T>A (n.637-29242T>A) | |
15 | g.48503893C>A | CA392338605 | FBN1 | c.2007G>T (p.Gln669His) n.681G>T c.637-29243G>T (n.637-29243G>T) | |
15 | g.48503893C>G | CA392338609 | FBN1 | c.2007G>C (p.Gln669His) n.681G>C c.637-29243G>C (n.637-29243G>C) | gnomAD v4 |
15 | g.48503893C>T | CA490024283 | FBN1 | c.2007G>A (p.Gln669=) n.681G>A c.637-29243G>A (n.637-29243G>A) | ClinVar |
15 | g.48503895_48503899dup | CA16619972 | FBN1 | c.2003_2007dup (p.Cys670AlafsTer?) n.677_681dup c.637-29247_637-29243dup (n.637-29247_637-29243dup) | ClinVar dbSNP |
15 | g.48503894T>A | CA269549043 | FBN1 | c.2006A>T (p.Gln669Leu) n.680A>T c.637-29244A>T (n.637-29244A>T) | ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.48503894T>C | CA392338615 | FBN1 | c.2006A>G (p.Gln669Arg) n.680A>G c.637-29244A>G (n.637-29244A>G) | ClinVar dbSNP |
15 | g.48503894T>G | CA392338619 | FBN1 | c.2006A>C (p.Gln669Pro) n.680A>C c.637-29244A>C (n.637-29244A>C) | ClinVar |
15 | g.48503894T= | CA2175526661 | FBN1 | c.2006A= (p.Gln669=) n.680A= c.637-29244A= (n.637-29244A=) | |
15 | g.48503895G>A | CA392338628 | FBN1 | c.2005C>T (p.Gln669Ter) n.679C>T c.637-29245C>T (n.637-29245C>T) | ClinVar |
15 | g.48503895G>C | CA392338626 | FBN1 | c.2005C>G (p.Gln669Glu) n.679C>G c.637-29245C>G (n.637-29245C>G) | |
15 | g.48503895G>T | CA392338623 | FBN1 | c.2005C>A (p.Gln669Lys) n.679C>A c.637-29245C>A (n.637-29245C>A) | |
15 | g.48503896G>A | CA490024297 | FBN1 | c.2004C>T (p.Gly668=) n.678C>T c.637-29246C>T (n.637-29246C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48503896G>C | CA490024299 | FBN1 | c.2004C>G (p.Gly668=) n.678C>G c.637-29246C>G (n.637-29246C>G) | |
15 | g.48503896G= | CA2175526666 | FBN1 | c.2004C= (p.Gly668=) n.678C= c.637-29246C= (n.637-29246C=) | |
15 | g.48503896G>T | CA490024301 | FBN1 | c.2004C>A (p.Gly668=) n.678C>A c.637-29246C>A (n.637-29246C>A) | |
15 | g.48503896_48503897delinsGC | CA2175526667 | FBN1 | c.2003_2004delinsGC (p.Gly668=) n.677_678delinsGC c.637-29247_637-29246delinsGC (n.637-29247_637-29246delinsGC) | |
15 | g.48503897C>A | CA392338632 | FBN1 | c.2003G>T (p.Gly668Val) n.677G>T c.637-29247G>T (n.637-29247G>T) | COSMIC |
15 | g.48503897C>G | CA392338637 | FBN1 | c.2003G>C (p.Gly668Ala) n.677G>C c.637-29247G>C (n.637-29247G>C) | |
15 | g.48503897C>T | CA392338639 | FBN1 | c.2003G>A (p.Gly668Asp) n.677G>A c.637-29247G>A (n.637-29247G>A) | |
15 | g.48503897delinsATACA | CA658798347 | FBN1 | c.2003delinsTGTAT (p.Gly668ValfsTer14) n.677delinsTGTAT c.637-29247delinsTGTAT (n.637-29247delinsTGTAT) | ClinVar dbSNP |
15 | g.48503898C>A | CA392338645 | FBN1 | c.2002G>T (p.Gly668Cys) n.676G>T c.637-29248G>T (n.637-29248G>T) | |
15 | g.48503898C>G | CA392338648 | FBN1 | c.2002G>C (p.Gly668Arg) n.676G>C c.637-29248G>C (n.637-29248G>C) | |
15 | g.48503898C>T | CA392338649 | FBN1 | c.2002G>A (p.Gly668Ser) n.676G>A c.637-29248G>A (n.637-29248G>A) | gnomAD v4 |
15 | g.48503899T>A | CA392338652 | FBN1 | c.2001A>T (p.Arg667Ser) n.675A>T c.637-29249A>T (n.637-29249A>T) | |
15 | g.48503899T>C | CA490024315 | FBN1 | c.2001A>G (p.Arg667=) n.675A>G c.637-29249A>G (n.637-29249A>G) | ClinVar dbSNP |
15 | g.48503899T>G | CA392338655 | FBN1 | c.2001A>C (p.Arg667Ser) n.675A>C c.637-29249A>C (n.637-29249A>C) | |
15 | g.48503899T= | CA2175526677 | FBN1 | c.2001A= (p.Arg667=) n.675A= c.637-29249A= (n.637-29249A=) | |
15 | g.48503900C>A | CA392338660 | FBN1 | c.2000G>T (p.Arg667Ile) n.674G>T c.637-29250G>T (n.637-29250G>T) | |
15 | g.48503900C= | CA2175526681 | FBN1 | c.2000G= (p.Arg667=) n.674G= c.637-29250G= (n.637-29250G=) | |
15 | g.48503900C>G | CA392338662 | FBN1 | c.2000G>C (p.Arg667Thr) n.674G>C c.637-29250G>C (n.637-29250G>C) | |
15 | g.48503900C>T | CA392338666 | FBN1 | c.2000G>A (p.Arg667Lys) n.674G>A c.637-29250G>A (n.637-29250G>A) | ClinVar dbSNP |
15 | g.48503901T>A | CA392338673 | FBN1 | c.1999A>T (p.Arg667Ter) n.673A>T c.637-29251A>T (n.637-29251A>T) | ClinVar dbSNP |
15 | g.48503901T>C | CA392338679 | FBN1 | c.1999A>G (p.Arg667Gly) n.673A>G c.637-29251A>G (n.637-29251A>G) | |
15 | g.48503901T>G | CA490024324 | FBN1 | c.1999A>C (p.Arg667=) n.673A>C c.637-29251A>C (n.637-29251A>C) | |
15 | g.48503901T= | CA2175526688 | FBN1 | c.1999A= (p.Arg667=) n.673A= c.637-29251A= (n.637-29251A=) | |
15 | g.48503902C>A | CA392338682 | FBN1 | c.1998G>T (p.Lys666Asn) n.672G>T c.637-29252G>T (n.637-29252G>T) | |
15 | g.48503902C>G | CA392338684 | FBN1 | c.1998G>C (p.Lys666Asn) n.672G>C c.637-29252G>C (n.637-29252G>C) | dbSNP |
15 | g.48503902C>T | CA490024332 | FBN1 | c.1998G>A (p.Lys666=) n.672G>A c.637-29252G>A (n.637-29252G>A) | ClinVar |
15 | g.48503903T>A | CA392338689 | FBN1 | c.1997A>T (p.Lys666Met) n.671A>T c.637-29253A>T (n.637-29253A>T) | COSMIC |
15 | g.48503903T>C | CA392338692 | FBN1 | c.1997A>G (p.Lys666Arg) n.671A>G c.637-29253A>G (n.637-29253A>G) | gnomAD v4 |
15 | g.48503903T>G | CA392338695 | FBN1 | c.1997A>C (p.Lys666Thr) n.671A>C c.637-29253A>C (n.637-29253A>C) | |
15 | g.48503904T>A | CA392338697 | FBN1 | c.1996A>T (p.Lys666Ter) n.670A>T c.637-29254A>T (n.637-29254A>T) | |
15 | g.48503904T>C | CA392338700 | FBN1 | c.1996A>G (p.Lys666Glu) n.670A>G c.637-29254A>G (n.637-29254A>G) | |
15 | g.48503904T>G | CA392338703 | FBN1 | c.1996A>C (p.Lys666Gln) n.670A>C c.637-29254A>C (n.637-29254A>C) | |
15 | g.48503905G>A | CA490024345 | FBN1 | c.1995C>T (p.Tyr665=) n.669C>T c.637-29255C>T (n.637-29255C>T) | |
15 | g.48503905G>C | CA392338706 | FBN1 | c.1995C>G (p.Tyr665Ter) n.669C>G c.637-29255C>G (n.637-29255C>G) | ClinVar dbSNP |
15 | g.48503905G>T | CA392338708 | FBN1 | c.1995C>A (p.Tyr665Ter) n.669C>A c.637-29255C>A (n.637-29255C>A) | ClinVar dbSNP |
15 | g.48503906T>A | CA392338713 | FBN1 | c.1994A>T (p.Tyr665Phe) n.668A>T c.637-29256A>T (n.637-29256A>T) | |
15 | g.48503906T>C | CA392338715 | FBN1 | c.1994A>G (p.Tyr665Cys) n.668A>G c.637-29256A>G (n.637-29256A>G) | |
15 | g.48503906T>G | CA392338718 | FBN1 | c.1994A>C (p.Tyr665Ser) n.668A>C c.637-29256A>C (n.637-29256A>C) | |
15 | g.48503907A>C | CA392338727 | FBN1 | c.1993T>G (p.Tyr665Asp) n.667T>G c.637-29257T>G (n.637-29257T>G) | |
15 | g.48503907A>G | CA392338723 | FBN1 | c.1993T>C (p.Tyr665His) n.667T>C c.637-29257T>C (n.637-29257T>C) | |
15 | g.48503907A>T | CA392338721 | FBN1 | c.1993T>A (p.Tyr665Asn) n.667T>A c.637-29257T>A (n.637-29257T>A) | |
15 | g.48503908T>A | CA046571 | FBN1 | c.1992A>T (p.Gly664=) n.666A>T c.637-29258A>T (n.637-29258A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503908T>C | CA490024361 | FBN1 | c.1992A>G (p.Gly664=) n.666A>G c.637-29258A>G (n.637-29258A>G) | ClinVar gnomAD v4 |
15 | g.48503908T>G | CA490024364 | FBN1 | c.1992A>C (p.Gly664=) n.666A>C c.637-29258A>C (n.637-29258A>C) | ClinVar |
15 | g.48503908T= | CA2175526695 | FBN1 | c.1992A= (p.Gly664=) n.666A= c.637-29258A= (n.637-29258A=) | |
15 | g.48503909C>A | CA392338740 | FBN1 | c.1991G>T (p.Gly664Val) n.665G>T c.637-29259G>T (n.637-29259G>T) | |
15 | g.48503909C= | CA2175526700 | FBN1 | c.1991G= (p.Gly664=) n.665G= c.637-29259G= (n.637-29259G=) | |
15 | g.48503909C>G | CA392338735 | FBN1 | c.1991G>C (p.Gly664Ala) n.665G>C c.637-29259G>C (n.637-29259G>C) | |
15 | g.48503909C>T | CA392338738 | FBN1 | c.1991G>A (p.Gly664Glu) n.665G>A c.637-29259G>A (n.637-29259G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503910C>A | CA392338741 | FBN1 | c.1990G>T (p.Gly664Ter) n.664G>T c.637-29260G>T (n.637-29260G>T) | |
15 | g.48503910C>G | CA392338743 | FBN1 | c.1990G>C (p.Gly664Arg) n.664G>C c.637-29260G>C (n.637-29260G>C) | gnomAD v4 |
15 | g.48503910C>T | CA392338745 | FBN1 | c.1990G>A (p.Gly664Arg) n.664G>A c.637-29260G>A (n.637-29260G>A) | |
15 | g.48503911A>C | CA490024377 | FBN1 | c.1989T>G (p.Gly663=) n.663T>G c.637-29261T>G (n.637-29261T>G) | |
15 | g.48503911A>G | CA490024378 | FBN1 | c.1989T>C (p.Gly663=) n.663T>C c.637-29261T>C (n.637-29261T>C) | |
15 | g.48503911A>T | CA490024381 | FBN1 | c.1989T>A (p.Gly663=) n.663T>A c.637-29261T>A (n.637-29261T>A) | |
15 | g.48503912C>A | CA392338748 | FBN1 | c.1988G>T (p.Gly663Val) n.662G>T c.637-29262G>T (n.637-29262G>T) | |
15 | g.48503912C>G | CA392338750 | FBN1 | c.1988G>C (p.Gly663Ala) n.662G>C c.637-29262G>C (n.637-29262G>C) | |
15 | g.48503912C>T | CA392338752 | FBN1 | c.1988G>A (p.Gly663Asp) n.662G>A c.637-29262G>A (n.637-29262G>A) | |
15 | g.48503913C>A | CA392338755 | FBN1 | c.1987G>T (p.Gly663Cys) n.661G>T c.637-29263G>T (n.637-29263G>T) | |
15 | g.48503913C>G | CA392338756 | FBN1 | c.1987G>C (p.Gly663Arg) n.661G>C c.637-29263G>C (n.637-29263G>C) | |
15 | g.48503913C>T | CA392338757 | FBN1 | c.1987G>A (p.Gly663Ser) n.661G>A c.637-29263G>A (n.637-29263G>A) | gnomAD v4 |
15 | g.48503914A>C | CA392338760 | FBN1 | c.1986T>G (p.Tyr662Ter) n.660T>G c.637-29264T>G (n.637-29264T>G) | |
15 | g.48503914A>G | CA490024396 | FBN1 | c.1986T>C (p.Tyr662=) n.660T>C c.637-29264T>C (n.637-29264T>C) | gnomAD v4 |
15 | g.48503914A>T | CA392338762 | FBN1 | c.1986T>A (p.Tyr662Ter) n.660T>A c.637-29264T>A (n.637-29264T>A) | |
15 | g.48503915T>A | CA392338769 | FBN1 | c.1985A>T (p.Tyr662Phe) n.659A>T c.637-29265A>T (n.637-29265A>T) | |
15 | g.48503915T>C | CA392338765 | FBN1 | c.1985A>G (p.Tyr662Cys) n.659A>G c.637-29265A>G (n.637-29265A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503915T>G | CA392338766 | FBN1 | c.1985A>C (p.Tyr662Ser) n.659A>C c.637-29265A>C (n.637-29265A>C) | |
15 | g.48503915T= | CA2175526704 | FBN1 | c.1985A= (p.Tyr662=) n.659A= c.637-29265A= (n.637-29265A=) | |
15 | g.48503916A= | CA2175526706 | FBN1 | c.1984T= (p.Tyr662=) n.658T= c.637-29266T= (n.637-29266T=) | |
15 | g.48503916A>C | CA392338771 | FBN1 | c.1984T>G (p.Tyr662Asp) n.658T>G c.637-29266T>G (n.637-29266T>G) | ClinVar |
15 | g.48503916A>G | CA392338775 | FBN1 | c.1984T>C (p.Tyr662His) n.658T>C c.637-29266T>C (n.637-29266T>C) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503916A>T | CA392338777 | FBN1 | c.1984T>A (p.Tyr662Asn) n.658T>A c.637-29266T>A (n.637-29266T>A) | |
15 | g.48503917G>A | CA046561 | FBN1 | c.1983C>T (p.Cys661=) n.657C>T c.637-29267C>T (n.637-29267C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503917G>C | CA392338780 | FBN1 | c.1983C>G (p.Cys661Trp) n.657C>G c.637-29267C>G (n.637-29267C>G) | ClinVar dbSNP |
15 | g.48503917G= | CA2175526711 | FBN1 | c.1983C= (p.Cys661=) n.657C= c.637-29267C= (n.637-29267C=) | |
15 | g.48503917G>T | CA392338781 | FBN1 | c.1983C>A (p.Cys661Ter) n.657C>A c.637-29267C>A (n.637-29267C>A) | |
15 | g.48503918C>A | CA392338783 | FBN1 | c.1982G>T (p.Cys661Phe) n.656G>T c.637-29268G>T (n.637-29268G>T) | |
15 | g.48503918C= | CA2175526715 | FBN1 | c.1982G= (p.Cys661=) n.656G= c.637-29268G= (n.637-29268G=) | |
15 | g.48503918C>G | CA392338785 | FBN1 | c.1982G>C (p.Cys661Ser) n.656G>C c.637-29268G>C (n.637-29268G>C) | |
15 | g.48503918C>T | CA16614668 | FBN1 | c.1982G>A (p.Cys661Tyr) n.656G>A c.637-29268G>A (n.637-29268G>A) | ClinVar dbSNP |
15 | g.48503918_48503938delinsCATGTGCTCCGCATGTGTGTG | CA2175526716 | FBN1 | c.1962_1982delinsCACACACATGCGGAGCACATG (p.Asp654=) n.636_656delinsCACACACATGCGGAGCACATG c.637-29288_637-29268delinsCACACACATGCGGAGCACATG (n.637-29288_637-29268delinsCACACACATGCGGAGCACATG) | |
15 | g.48503919A>C | CA392338789 | FBN1 | c.1981T>G (p.Cys661Gly) n.655T>G c.637-29269T>G (n.637-29269T>G) | |
15 | g.48503919A>G | CA392338791 | FBN1 | c.1981T>C (p.Cys661Arg) n.655T>C c.637-29269T>C (n.637-29269T>C) | |
15 | g.48503919A>T | CA392338793 | FBN1 | c.1981T>A (p.Cys661Ser) n.655T>A c.637-29269T>A (n.637-29269T>A) | |
15 | g.48503919dup | CA916082405 | FBN1 | c.1981dup (p.Cys661LeufsTer20) n.655dup c.637-29269dup (n.637-29269dup) | ClinVar dbSNP |
15 | g.48503919_48503938delinsCT | CA915946595 | FBN1 | c.1962_1981delinsAG (p.Asp654_Cys661delinsGluGly) n.636_655delinsAG c.637-29288_637-29269delinsAG (n.637-29288_637-29269delinsAG) | ClinVar dbSNP |
15 | g.48503920del | CA2695220768 | FBN1 | c.1980del (p.Cys661AlafsTer?) n.654del c.637-29270del (n.637-29270del) | |
15 | g.48503920T>A | CA490024423 | FBN1 | c.1980A>T (p.Thr660=) n.654A>T c.637-29270A>T (n.637-29270A>T) | |
15 | g.48503920T>C | CA269549074 | FBN1 | c.1980A>G (p.Thr660=) n.654A>G c.637-29270A>G (n.637-29270A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503920T>G | CA490024425 | FBN1 | c.1980A>C (p.Thr660=) n.654A>C c.637-29270A>C (n.637-29270A>C) | |
15 | g.48503920T= | CA2175526724 | FBN1 | c.1980A= (p.Thr660=) n.654A= c.637-29270A= (n.637-29270A=) | |
15 | g.48503921del | CA2695220769 | FBN1 | c.1979del (p.Thr660AsnfsTer?) n.653del c.637-29271del (n.637-29271del) | |
15 | g.48503921G>A | CA392338803 | FBN1 | c.1979C>T (p.Thr660Ile) n.653C>T c.637-29271C>T (n.637-29271C>T) | ClinVar |
15 | g.48503921G>C | CA392338798 | FBN1 | c.1979C>G (p.Thr660Arg) n.653C>G c.637-29271C>G (n.637-29271C>G) | |
15 | g.48503921G>T | CA392338801 | FBN1 | c.1979C>A (p.Thr660Lys) n.653C>A c.637-29271C>A (n.637-29271C>A) | |
15 | g.48503922T>A | CA392338806 | FBN1 | c.1978A>T (p.Thr660Ser) n.652A>T c.637-29272A>T (n.637-29272A>T) | |
15 | g.48503922T>C | CA392338808 | FBN1 | c.1978A>G (p.Thr660Ala) n.652A>G c.637-29272A>G (n.637-29272A>G) | |
15 | g.48503922T>G | CA392338810 | FBN1 | c.1978A>C (p.Thr660Pro) n.652A>C c.637-29272A>C (n.637-29272A>C) | |
15 | g.48503923G>A | CA046540 | FBN1 | c.1977C>T (p.Ser659=) n.651C>T c.637-29273C>T (n.637-29273C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503923G>C | CA392338815 | FBN1 | c.1977C>G (p.Ser659Arg) n.651C>G c.637-29273C>G (n.637-29273C>G) | |
15 | g.48503923G= | CA2175526726 | FBN1 | c.1977C= (p.Ser659=) n.651C= c.637-29273C= (n.637-29273C=) | |
15 | g.48503923G>T | CA392338813 | FBN1 | c.1977C>A (p.Ser659Arg) n.651C>A c.637-29273C>A (n.637-29273C>A) | |
15 | g.48503924C>A | CA392338818 | FBN1 | c.1976G>T (p.Ser659Ile) n.650G>T c.637-29274G>T (n.637-29274G>T) | |
15 | g.48503924C>G | CA392338820 | FBN1 | c.1976G>C (p.Ser659Thr) n.650G>C c.637-29274G>C (n.637-29274G>C) | |
15 | g.48503924C>T | CA392338822 | FBN1 | c.1976G>A (p.Ser659Asn) n.650G>A c.637-29274G>A (n.637-29274G>A) | |
15 | g.48503925T>A | CA392338825 | FBN1 | c.1975A>T (p.Ser659Cys) n.649A>T c.637-29275A>T (n.637-29275A>T) | |
15 | g.48503925T>C | CA392338827 | FBN1 | c.1975A>G (p.Ser659Gly) n.649A>G c.637-29275A>G (n.637-29275A>G) | |
15 | g.48503925T>G | CA392338829 | FBN1 | c.1975A>C (p.Ser659Arg) n.649A>C c.637-29275A>C (n.637-29275A>C) | |
15 | g.48503926C>A | CA490024454 | FBN1 | c.1974G>T (p.Arg658=) n.648G>T c.637-29276G>T (n.637-29276G>T) | |
15 | g.48503926C>G | CA490024459 | FBN1 | c.1974G>C (p.Arg658=) n.648G>C c.637-29276G>C (n.637-29276G>C) | |
15 | g.48503926C>T | CA490024457 | FBN1 | c.1974G>A (p.Arg658=) n.648G>A c.637-29276G>A (n.637-29276G>A) | |
15 | g.48503927C>A | CA392338832 | FBN1 | c.1973G>T (p.Arg658Leu) n.647G>T c.637-29277G>T (n.637-29277G>T) | |
15 | g.48503927C= | CA2175526730 | FBN1 | c.1973G= (p.Arg658=) n.647G= c.637-29277G= (n.637-29277G=) | |
15 | g.48503927C>G | CA392338836 | FBN1 | c.1973G>C (p.Arg658Pro) n.647G>C c.637-29277G>C (n.637-29277G>C) | |
15 | g.48503927C>T | CA012694 | FBN1 | c.1973G>A (p.Arg658Gln) n.647G>A c.637-29277G>A (n.637-29277G>A) | ClinVar dbSNP gnomAD v4 |
15 | g.48503928G>A | CA046530 | FBN1 | c.1972C>T (p.Arg658Trp) n.646C>T c.637-29278C>T (n.637-29278C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503928G>C | CA392338845 | FBN1 | c.1972C>G (p.Arg658Gly) n.646C>G c.637-29278C>G (n.637-29278C>G) | |
15 | g.48503928G= | CA2175526734 | FBN1 | c.1972C= (p.Arg658=) n.646C= c.637-29278C= (n.637-29278C=) | |
15 | g.48503928G>T | CA490024471 | FBN1 | c.1972C>A (p.Arg658=) n.646C>A c.637-29278C>A (n.637-29278C>A) | |
15 | g.48503928dup | CA2838388016 | FBN1 | c.1972dup (p.Arg658ProfsTer23) n.646dup c.637-29278dup (n.637-29278dup) | |
15 | g.48503929C>A | CA392338847 | FBN1 | c.1971G>T (p.Met657Ile) n.645G>T c.637-29279G>T (n.637-29279G>T) | |
15 | g.48503929C>G | CA392338848 | FBN1 | c.1971G>C (p.Met657Ile) n.645G>C c.637-29279G>C (n.637-29279G>C) | |
15 | g.48503929C>T | CA392338850 | FBN1 | c.1971G>A (p.Met657Ile) n.645G>A c.637-29279G>A (n.637-29279G>A) | |
15 | g.48503929dup | CA2695220770 | FBN1 | c.1971dup (p.Arg658AlafsTer23) n.645dup c.637-29279dup (n.637-29279dup) | |
15 | g.48503930A= | CA2175526739 | FBN1 | c.1970T= (p.Met657=) n.644T= c.637-29280T= (n.637-29280T=) | |
15 | g.48503930A>C | CA392338852 | FBN1 | c.1970T>G (p.Met657Arg) n.644T>G c.637-29280T>G (n.637-29280T>G) | |
15 | g.48503930A>G | CA392338854 | FBN1 | c.1970T>C (p.Met657Thr) n.644T>C c.637-29280T>C (n.637-29280T>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48503930A>T | CA392338856 | FBN1 | c.1970T>A (p.Met657Lys) n.644T>A c.637-29280T>A (n.637-29280T>A) | |
15 | g.48503930_48503931del | CA2573150780 | FBN1 | c.1969_1970del (p.Met657AlafsTer23) n.643_644del c.637-29281_637-29280del (n.637-29281_637-29280del) | ClinVar dbSNP |
15 | g.48503930_48503932delinsATG | CA2175526737 | FBN1 | c.1968_1970delinsCAT (p.His656=) n.642_644delinsCAT c.637-29282_637-29280delinsCAT (n.637-29282_637-29280delinsCAT) | |
15 | g.48503931T>A | CA392338859 | FBN1 | c.1969A>T (p.Met657Leu) n.643A>T c.637-29281A>T (n.637-29281A>T) | |
15 | g.48503931T>C | CA392338861 | FBN1 | c.1969A>G (p.Met657Val) n.643A>G c.637-29281A>G (n.637-29281A>G) | |
15 | g.48503931T>G | CA392338863 | FBN1 | c.1969A>C (p.Met657Leu) n.643A>C c.637-29281A>C (n.637-29281A>C) | |
15 | g.48503938_48503939dup | CA2824998302 | FBN1 | c.1968_1969dup (p.Met657ThrfsTer?) n.642_643dup c.637-29282_637-29281dup (n.637-29282_637-29281dup) | |
15 | g.48503938_48503939del | CA658824472 | FBN1 | c.1968_1969del (p.Met657AlafsTer23) n.642_643del c.637-29282_637-29281del (n.637-29282_637-29281del) | ClinVar dbSNP |
15 | g.48503932G>A | CA490024488 | FBN1 | c.1968C>T (p.His656=) n.642C>T c.637-29282C>T (n.637-29282C>T) | ClinVar dbSNP |
15 | g.48503932G>C | CA392338868 | FBN1 | c.1968C>G (p.His656Gln) n.642C>G c.637-29282C>G (n.637-29282C>G) | |
15 | g.48503932G= | CA2175526746 | FBN1 | c.1968C= (p.His656=) n.642C= c.637-29282C= (n.637-29282C=) | |
15 | g.48503932G>T | CA392338866 | FBN1 | c.1968C>A (p.His656Gln) n.642C>A c.637-29282C>A (n.637-29282C>A) | |
15 | g.48503933T>A | CA392338871 | FBN1 | c.1967A>T (p.His656Leu) n.641A>T c.637-29283A>T (n.637-29283A>T) | |
15 | g.48503933T>C | CA392338875 | FBN1 | c.1967A>G (p.His656Arg) n.641A>G c.637-29283A>G (n.637-29283A>G) | ClinVar dbSNP gnomAD v4 |
15 | g.48503933T>G | CA392338873 | FBN1 | c.1967A>C (p.His656Pro) n.641A>C c.637-29283A>C (n.637-29283A>C) | |
15 | g.48503933T= | CA2175526749 | FBN1 | c.1967A= (p.His656=) n.641A= c.637-29283A= (n.637-29283A=) | |
15 | g.48503934G>A | CA392338878 | FBN1 | c.1966C>T (p.His656Tyr) n.640C>T c.637-29284C>T (n.637-29284C>T) | |
15 | g.48503934G>C | CA392338882 | FBN1 | c.1966C>G (p.His656Asp) n.640C>G c.637-29284C>G (n.637-29284C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48503934G= | CA2175526751 | FBN1 | c.1966C= (p.His656=) n.640C= c.637-29284C= (n.637-29284C=) | |
15 | g.48503934G>T | CA392338880 | FBN1 | c.1966C>A (p.His656Asn) n.640C>A c.637-29284C>A (n.637-29284C>A) | |
15 | g.48503935T>A | CA490024508 | FBN1 | c.1965A>T (p.Thr655=) n.639A>T c.637-29285A>T (n.637-29285A>T) | |
15 | g.48503935T>C | CA490024504 | FBN1 | c.1965A>G (p.Thr655=) n.639A>G c.637-29285A>G (n.637-29285A>G) | |
15 | g.48503935T>G | CA490024506 | FBN1 | c.1965A>C (p.Thr655=) n.639A>C c.637-29285A>C (n.637-29285A>C) | |
15 | g.48503936G>A | CA392338885 | FBN1 | c.1964C>T (p.Thr655Ile) n.638C>T c.637-29286C>T (n.637-29286C>T) | ClinVar |
15 | g.48503936G>C | CA046522 | FBN1 | c.1964C>G (p.Thr655Arg) n.638C>G c.637-29286C>G (n.637-29286C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48503936G= | CA2175526752 | FBN1 | c.1964C= (p.Thr655=) n.638C= c.637-29286C= (n.637-29286C=) | |
15 | g.48503936G>T | CA392338888 | FBN1 | c.1964C>A (p.Thr655Lys) n.638C>A c.637-29286C>A (n.637-29286C>A) | |
15 | g.48503937T>A | CA392338892 | FBN1 | c.1963A>T (p.Thr655Ser) n.637A>T c.637-29287A>T (n.637-29287A>T) | |
15 | g.48503937T>C | CA392338894 | FBN1 | c.1963A>G (p.Thr655Ala) n.637A>G c.637-29287A>G (n.637-29287A>G) | ClinVar |
15 | g.48503937T>G | CA392338896 | FBN1 | c.1963A>C (p.Thr655Pro) n.637A>C c.637-29287A>C (n.637-29287A>C) | |
15 | g.48503938G>A | CA490024519 | FBN1 | c.1962C>T (p.Asp654=) n.636C>T c.637-29288C>T (n.637-29288C>T) | ClinVar |
15 | g.48503938G>C | CA392338898 | FBN1 | c.1962C>G (p.Asp654Glu) n.636C>G c.637-29288C>G (n.637-29288C>G) | |
15 | g.48503938G>T | CA392338900 | FBN1 | c.1962C>A (p.Asp654Glu) n.636C>A c.637-29288C>A (n.637-29288C>A) | gnomAD v4 |
15 | g.48503939T>A | CA392338903 | FBN1 | c.1961A>T (p.Asp654Val) n.635A>T c.637-29289A>T (n.637-29289A>T) | |
15 | g.48503939T>C | CA392338906 | FBN1 | c.1961A>G (p.Asp654Gly) n.635A>G c.637-29289A>G (n.637-29289A>G) | |
15 | g.48503939T>G | CA392338907 | FBN1 | c.1961A>C (p.Asp654Ala) n.635A>C c.637-29289A>C (n.637-29289A>C) | |
15 | g.48503940del | CA2695220771 | FBN1 | c.1961-1del (n.1961-1del) n.635-1del c.637-29290del (n.637-29290del) | |
15 | g.48503940C>A | CA392338910 | FBN1 | c.1961-1G>T (n.1961-1G>T) n.635-1G>T c.637-29290G>T (n.637-29290G>T) | COSMIC |
15 | g.48503940C= | CA2175526755 | FBN1 | c.1961-1G= (n.1961-1G=) n.635-1G= c.637-29290G= (n.637-29290G=) | |
15 | g.48503940C>G | CA392338912 | FBN1 | c.1961-1G>C (n.1961-1G>C) n.635-1G>C c.637-29290G>C (n.637-29290G>C) | |
15 | g.48503940C>T | CA392338914 | FBN1 | c.1961-1G>A (n.1961-1G>A) n.635-1G>A c.637-29290G>A (n.637-29290G>A) | ClinVar dbSNP |
15 | g.48503941T>A | CA392338920 | FBN1 | c.1961-2A>T (n.1961-2A>T) n.635-2A>T c.637-29291A>T (n.637-29291A>T) | COSMIC |
15 | g.48503941T>C | CA392338918 | FBN1 | c.1961-2A>G (n.1961-2A>G) n.635-2A>G c.637-29291A>G (n.637-29291A>G) | ClinVar dbSNP |
15 | g.48503941T>G | CA392338916 | FBN1 | c.1961-2A>C (n.1961-2A>C) n.635-2A>C c.637-29291A>C (n.637-29291A>C) | |
15 | g.48503941T= | CA2175526756 | FBN1 | c.1961-2A= (n.1961-2A=) n.635-2A= c.637-29291A= (n.637-29291A=) | |
15 | g.48503942A= | CA2175526758 | FBN1 | c.1961-3T= (n.1961-3T=) n.635-3T= c.637-29292T= (n.637-29292T=) | |
15 | g.48503942A>C | CA923726065 | FBN1 | c.1961-3T>G (n.1961-3T>G) n.635-3T>G c.637-29292T>G (n.637-29292T>G) | |
15 | g.48503942A>G | CA046495 | FBN1 | c.1961-3T>C (n.1961-3T>C) n.635-3T>C c.637-29292T>C (n.637-29292T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503942A>T | CA2628335791 | FBN1 | c.1961-3T>A (n.1961-3T>A) n.635-3T>A c.637-29292T>A (n.637-29292T>A) | gnomAD v4 |
15 | g.48503943A>G | CA2575717507 | FBN1 | c.1961-4T>C (n.1961-4T>C) n.635-4T>C c.637-29293T>C (n.637-29293T>C) | ClinVar |
15 | g.48503944A= | CA2175526759 | FBN1 | c.1961-5T= (n.1961-5T=) n.635-5T= c.637-29294T= (n.637-29294T=) | |
15 | g.48503944A>G | CA269549140 | FBN1 | c.1961-5T>C (n.1961-5T>C) n.635-5T>C c.637-29294T>C (n.637-29294T>C) | ClinVar dbSNP gnomAD v4 |
15 | g.48503945_48503946del | CA2580089602 | FBN1 | c.1961-6_1961-5del (n.1961-6_1961-5del) n.635-6_635-5del c.637-29295_637-29294del (n.637-29295_637-29294del) | ClinVar gnomAD v4 |
15 | g.48503946A= | CA2175526760 | FBN1 | c.1961-7T= (n.1961-7T=) n.635-7T= c.637-29296T= (n.637-29296T=) | |
15 | g.48503946A>G | CA10583252 | FBN1 | c.1961-7T>C (n.1961-7T>C) n.635-7T>C c.637-29296T>C (n.637-29296T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48503947G>A | CA269549152 | FBN1 | c.1961-8C>T (n.1961-8C>T) n.635-8C>T c.637-29297C>T (n.637-29297C>T) | dbSNP |
15 | g.48503947G= | CA2175526763 | FBN1 | c.1961-8C= (n.1961-8C=) n.635-8C= c.637-29297C= (n.637-29297C=) | |
15 | g.48503948del | CA2804072075 | FBN1 | c.1961-8del (n.1961-8del) n.635-8del c.637-29297del (n.637-29297del) |