UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.50495367A>C | CA367538062 | DDC,FIGNL1 | c.927T>G (p.Phe309Leu) c.693T>G (p.Phe231Leu) c.569T>G c.648T>G (p.Phe216Leu) c.*28T>G (n.*28T>G) c.-11+47151T>G (n.-11+47151T>G) c.783T>G (p.Phe261Leu) c.813T>G (p.Phe271Leu) c.576T>G (p.Phe192Leu) c.870T>G (p.Phe290Leu) | |
| 7 | g.50495367A>G | CA454934963 | DDC,FIGNL1 | c.927T>C (p.Phe309=) c.693T>C (p.Phe231=) c.569T>C c.648T>C (p.Phe216=) c.*28T>C (n.*28T>C) c.-11+47151T>C (n.-11+47151T>C) c.783T>C (p.Phe261=) c.813T>C (p.Phe271=) c.576T>C (p.Phe192=) c.870T>C (p.Phe290=) | |
| 7 | g.50495367A>T | CA367538063 | DDC,FIGNL1 | c.927T>A (p.Phe309Leu) c.693T>A (p.Phe231Leu) c.569T>A c.648T>A (p.Phe216Leu) c.*28T>A (n.*28T>A) c.-11+47151T>A (n.-11+47151T>A) c.783T>A (p.Phe261Leu) c.813T>A (p.Phe271Leu) c.576T>A (p.Phe192Leu) c.870T>A (p.Phe290Leu) | |
| 7 | g.50495368A>C | CA367538064 | DDC,FIGNL1 | c.926T>G (p.Phe309Cys) c.692T>G (p.Phe231Cys) c.568T>G c.647T>G (p.Phe216Cys) c.*27T>G (n.*27T>G) c.-11+47150T>G (n.-11+47150T>G) c.782T>G (p.Phe261Cys) c.812T>G (p.Phe271Cys) c.575T>G (p.Phe192Cys) c.869T>G (p.Phe290Cys) | |
| 7 | g.50495368A>G | CA367538065 | DDC,FIGNL1 | c.926T>C (p.Phe309Ser) c.692T>C (p.Phe231Ser) c.568T>C c.647T>C (p.Phe216Ser) c.*27T>C (n.*27T>C) c.-11+47150T>C (n.-11+47150T>C) c.782T>C (p.Phe261Ser) c.812T>C (p.Phe271Ser) c.575T>C (p.Phe192Ser) c.869T>C (p.Phe290Ser) | gnomAD v4 |
| 7 | g.50495368A>T | CA367538066 | DDC,FIGNL1 | c.926T>A (p.Phe309Tyr) c.692T>A (p.Phe231Tyr) c.568T>A c.647T>A (p.Phe216Tyr) c.*27T>A (n.*27T>A) c.-11+47150T>A (n.-11+47150T>A) c.782T>A (p.Phe261Tyr) c.812T>A (p.Phe271Tyr) c.575T>A (p.Phe192Tyr) c.869T>A (p.Phe290Tyr) | |
| 7 | g.50495369A= | CA1706635412 | DDC,FIGNL1 | c.925T= (p.Phe309=) c.691T= (p.Phe231=) c.567T= c.646T= (p.Phe216=) c.*26T= (n.*26T=) c.-11+47149T= (n.-11+47149T=) c.781T= (p.Phe261=) c.811T= (p.Phe271=) c.574T= (p.Phe192=) c.868T= (p.Phe290=) | |
| 7 | g.50495369A>C | CA367538068 | DDC,FIGNL1 | c.925T>G (p.Phe309Val) c.691T>G (p.Phe231Val) c.567T>G c.646T>G (p.Phe216Val) c.*26T>G (n.*26T>G) c.-11+47149T>G (n.-11+47149T>G) c.781T>G (p.Phe261Val) c.811T>G (p.Phe271Val) c.574T>G (p.Phe192Val) c.868T>G (p.Phe290Val) | |
| 7 | g.50495369A>G | CA127446 | DDC,FIGNL1 | c.925T>C (p.Phe309Leu) c.691T>C (p.Phe231Leu) c.567T>C c.646T>C (p.Phe216Leu) c.*26T>C (n.*26T>C) c.-11+47149T>C (n.-11+47149T>C) c.781T>C (p.Phe261Leu) c.811T>C (p.Phe271Leu) c.574T>C (p.Phe192Leu) c.868T>C (p.Phe290Leu) | ClinVar dbSNP |
| 7 | g.50495369A>T | CA367538067 | DDC,FIGNL1 | c.925T>A (p.Phe309Ile) c.691T>A (p.Phe231Ile) c.567T>A c.646T>A (p.Phe216Ile) c.*26T>A (n.*26T>A) c.-11+47149T>A (n.-11+47149T>A) c.781T>A (p.Phe261Ile) c.811T>A (p.Phe271Ile) c.574T>A (p.Phe192Ile) c.868T>A (p.Phe290Ile) | |
| 7 | g.50495370A>C | CA367538069 | DDC,FIGNL1 | c.924T>G (p.Asn308Lys) c.690T>G (p.Asn230Lys) c.566T>G c.645T>G (p.Asn215Lys) c.*25T>G (n.*25T>G) c.-11+47148T>G (n.-11+47148T>G) c.780T>G (p.Asn260Lys) c.810T>G (p.Asn270Lys) c.573T>G (p.Asn191Lys) c.867T>G (p.Asn289Lys) | |
| 7 | g.50495370A>G | CA454934969 | DDC,FIGNL1 | c.924T>C (p.Asn308=) c.690T>C (p.Asn230=) c.566T>C c.645T>C (p.Asn215=) c.*25T>C (n.*25T>C) c.-11+47148T>C (n.-11+47148T>C) c.780T>C (p.Asn260=) c.810T>C (p.Asn270=) c.573T>C (p.Asn191=) c.867T>C (p.Asn289=) | |
| 7 | g.50495370A>T | CA367538070 | DDC,FIGNL1 | c.924T>A (p.Asn308Lys) c.690T>A (p.Asn230Lys) c.566T>A c.645T>A (p.Asn215Lys) c.*25T>A (n.*25T>A) c.-11+47148T>A (n.-11+47148T>A) c.780T>A (p.Asn260Lys) c.810T>A (p.Asn270Lys) c.573T>A (p.Asn191Lys) c.867T>A (p.Asn289Lys) | |
| 7 | g.50495371T>A | CA367538071 | DDC,FIGNL1 | c.923A>T (p.Asn308Ile) c.689A>T (p.Asn230Ile) c.565A>T c.644A>T (p.Asn215Ile) c.*24A>T (n.*24A>T) c.-11+47147A>T (n.-11+47147A>T) c.779A>T (p.Asn260Ile) c.809A>T (p.Asn270Ile) c.572A>T (p.Asn191Ile) c.866A>T (p.Asn289Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495371T>C | CA4262202 | DDC,FIGNL1 | c.923A>G (p.Asn308Ser) c.689A>G (p.Asn230Ser) c.565A>G c.644A>G (p.Asn215Ser) c.*24A>G (n.*24A>G) c.-11+47147A>G (n.-11+47147A>G) c.779A>G (p.Asn260Ser) c.809A>G (p.Asn270Ser) c.572A>G (p.Asn191Ser) c.866A>G (p.Asn289Ser) | dbSNP ExAC gnomAD v2 |
| 7 | g.50495371T>G | CA367538072 | DDC,FIGNL1 | c.923A>C (p.Asn308Thr) c.689A>C (p.Asn230Thr) c.565A>C c.644A>C (p.Asn215Thr) c.*24A>C (n.*24A>C) c.-11+47147A>C (n.-11+47147A>C) c.779A>C (p.Asn260Thr) c.809A>C (p.Asn270Thr) c.572A>C (p.Asn191Thr) c.866A>C (p.Asn289Thr) | |
| 7 | g.50495371T= | CA1706635413 | DDC,FIGNL1 | c.923A= (p.Asn308=) c.689A= (p.Asn230=) c.565A= c.644A= (p.Asn215=) c.*24A= (n.*24A=) c.-11+47147A= (n.-11+47147A=) c.779A= (p.Asn260=) c.809A= (p.Asn270=) c.572A= (p.Asn191=) c.866A= (p.Asn289=) | |
| 7 | g.50495372T>A | CA367538073 | DDC,FIGNL1 | c.922A>T (p.Asn308Tyr) c.688A>T (p.Asn230Tyr) c.564A>T c.643A>T (p.Asn215Tyr) c.*23A>T (n.*23A>T) c.-11+47146A>T (n.-11+47146A>T) c.778A>T (p.Asn260Tyr) c.808A>T (p.Asn270Tyr) c.571A>T (p.Asn191Tyr) c.865A>T (p.Asn289Tyr) | |
| 7 | g.50495372T>C | CA367538074 | DDC,FIGNL1 | c.922A>G (p.Asn308Asp) c.688A>G (p.Asn230Asp) c.564A>G c.643A>G (p.Asn215Asp) c.*23A>G (n.*23A>G) c.-11+47146A>G (n.-11+47146A>G) c.778A>G (p.Asn260Asp) c.808A>G (p.Asn270Asp) c.571A>G (p.Asn191Asp) c.865A>G (p.Asn289Asp) | |
| 7 | g.50495372T>G | CA367538075 | DDC,FIGNL1 | c.922A>C (p.Asn308His) c.688A>C (p.Asn230His) c.564A>C c.643A>C (p.Asn215His) c.*23A>C (n.*23A>C) c.-11+47146A>C (n.-11+47146A>C) c.778A>C (p.Asn260His) c.808A>C (p.Asn270His) c.571A>C (p.Asn191His) c.865A>C (p.Asn289His) | |
| 7 | g.50495373C>A | CA454934976 | DDC,FIGNL1 | c.921G>T (p.Val307=) c.687G>T (p.Val229=) c.563G>T c.642G>T (p.Val214=) c.*22G>T (n.*22G>T) c.-11+47145G>T (n.-11+47145G>T) c.777G>T (p.Val259=) c.807G>T (p.Val269=) c.570G>T (p.Val190=) c.864G>T (p.Val288=) | |
| 7 | g.50495373C>G | CA454934978 | DDC,FIGNL1 | c.921G>C (p.Val307=) c.687G>C (p.Val229=) c.563G>C c.642G>C (p.Val214=) c.*22G>C (n.*22G>C) c.-11+47145G>C (n.-11+47145G>C) c.777G>C (p.Val259=) c.807G>C (p.Val269=) c.570G>C (p.Val190=) c.864G>C (p.Val288=) | |
| 7 | g.50495373C>T | CA454934980 | DDC,FIGNL1 | c.921G>A (p.Val307=) c.687G>A (p.Val229=) c.563G>A c.642G>A (p.Val214=) c.*22G>A (n.*22G>A) c.-11+47145G>A (n.-11+47145G>A) c.777G>A (p.Val259=) c.807G>A (p.Val269=) c.570G>A (p.Val190=) c.864G>A (p.Val288=) | |
| 7 | g.50495374A>C | CA367538076 | DDC,FIGNL1 | c.920T>G (p.Val307Gly) c.686T>G (p.Val229Gly) c.562T>G c.641T>G (p.Val214Gly) c.*21T>G (n.*21T>G) c.-11+47144T>G (n.-11+47144T>G) c.776T>G (p.Val259Gly) c.806T>G (p.Val269Gly) c.569T>G (p.Val190Gly) c.863T>G (p.Val288Gly) | gnomAD v4 |
| 7 | g.50495374A>G | CA367538077 | DDC,FIGNL1 | c.920T>C (p.Val307Ala) c.686T>C (p.Val229Ala) c.562T>C c.641T>C (p.Val214Ala) c.*21T>C (n.*21T>C) c.-11+47144T>C (n.-11+47144T>C) c.776T>C (p.Val259Ala) c.806T>C (p.Val269Ala) c.569T>C (p.Val190Ala) c.863T>C (p.Val288Ala) | |
| 7 | g.50495374A>T | CA367538078 | DDC,FIGNL1 | c.920T>A (p.Val307Glu) c.686T>A (p.Val229Glu) c.562T>A c.641T>A (p.Val214Glu) c.*21T>A (n.*21T>A) c.-11+47144T>A (n.-11+47144T>A) c.776T>A (p.Val259Glu) c.806T>A (p.Val269Glu) c.569T>A (p.Val190Glu) c.863T>A (p.Val288Glu) | |
| 7 | g.50495375C>A | CA367538080 | DDC,FIGNL1 | c.919G>T (p.Val307Leu) c.685G>T (p.Val229Leu) c.561G>T c.640G>T (p.Val214Leu) c.*20G>T (n.*20G>T) c.-11+47143G>T (n.-11+47143G>T) c.775G>T (p.Val259Leu) c.805G>T (p.Val269Leu) c.568G>T (p.Val190Leu) c.862G>T (p.Val288Leu) | |
| 7 | g.50495375C= | CA1706635414 | DDC,FIGNL1 | c.919G= (p.Val307=) c.685G= (p.Val229=) c.561G= c.640G= (p.Val214=) c.*20G= (n.*20G=) c.-11+47143G= (n.-11+47143G=) c.775G= (p.Val259=) c.805G= (p.Val269=) c.568G= (p.Val190=) c.862G= (p.Val288=) | |
| 7 | g.50495375C>G | CA4262203 | DDC,FIGNL1 | c.919G>C (p.Val307Leu) c.685G>C (p.Val229Leu) c.561G>C c.640G>C (p.Val214Leu) c.*20G>C (n.*20G>C) c.-11+47143G>C (n.-11+47143G>C) c.775G>C (p.Val259Leu) c.805G>C (p.Val269Leu) c.568G>C (p.Val190Leu) c.862G>C (p.Val288Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495375C>T | CA367538079 | DDC,FIGNL1 | c.919G>A (p.Val307Met) c.685G>A (p.Val229Met) c.561G>A c.640G>A (p.Val214Met) c.*20G>A (n.*20G>A) c.-11+47143G>A (n.-11+47143G>A) c.775G>A (p.Val259Met) c.805G>A (p.Val269Met) c.568G>A (p.Val190Met) c.862G>A (p.Val288Met) | |
| 7 | g.50495376C>A | CA367538081 | DDC,FIGNL1 | c.918G>T (p.Leu306Phe) c.684G>T (p.Leu228Phe) c.560G>T c.639G>T (p.Leu213Phe) c.*19G>T (n.*19G>T) c.-11+47142G>T (n.-11+47142G>T) c.774G>T (p.Leu258Phe) c.804G>T (p.Leu268Phe) c.567G>T (p.Leu189Phe) c.861G>T (p.Leu287Phe) | |
| 7 | g.50495376C>G | CA367538082 | DDC,FIGNL1 | c.918G>C (p.Leu306Phe) c.684G>C (p.Leu228Phe) c.560G>C c.639G>C (p.Leu213Phe) c.*19G>C (n.*19G>C) c.-11+47142G>C (n.-11+47142G>C) c.774G>C (p.Leu258Phe) c.804G>C (p.Leu268Phe) c.567G>C (p.Leu189Phe) c.861G>C (p.Leu287Phe) | |
| 7 | g.50495376C>T | CA454934986 | DDC,FIGNL1 | c.918G>A (p.Leu306=) c.684G>A (p.Leu228=) c.560G>A c.639G>A (p.Leu213=) c.*19G>A (n.*19G>A) c.-11+47142G>A (n.-11+47142G>A) c.774G>A (p.Leu258=) c.804G>A (p.Leu268=) c.567G>A (p.Leu189=) c.861G>A (p.Leu287=) | gnomAD v4 |
| 7 | g.50495377A>C | CA367538083 | DDC,FIGNL1 | c.917T>G (p.Leu306Trp) c.683T>G (p.Leu228Trp) c.559T>G c.638T>G (p.Leu213Trp) c.*18T>G (n.*18T>G) c.-11+47141T>G (n.-11+47141T>G) c.773T>G (p.Leu258Trp) c.803T>G (p.Leu268Trp) c.566T>G (p.Leu189Trp) c.860T>G (p.Leu287Trp) | |
| 7 | g.50495377A>G | CA367538084 | DDC,FIGNL1 | c.917T>C (p.Leu306Ser) c.683T>C (p.Leu228Ser) c.559T>C c.638T>C (p.Leu213Ser) c.*18T>C (n.*18T>C) c.-11+47141T>C (n.-11+47141T>C) c.773T>C (p.Leu258Ser) c.803T>C (p.Leu268Ser) c.566T>C (p.Leu189Ser) c.860T>C (p.Leu287Ser) | |
| 7 | g.50495377A>T | CA367538085 | DDC,FIGNL1 | c.917T>A (p.Leu306Ter) c.683T>A (p.Leu228Ter) c.559T>A c.638T>A (p.Leu213Ter) c.*18T>A (n.*18T>A) c.-11+47141T>A (n.-11+47141T>A) c.773T>A (p.Leu258Ter) c.803T>A (p.Leu268Ter) c.566T>A (p.Leu189Ter) c.860T>A (p.Leu287Ter) | |
| 7 | g.50495378A= | CA1706635415 | DDC,FIGNL1 | c.916T= (p.Leu306=) c.682T= (p.Leu228=) c.558T= c.637T= (p.Leu213=) c.*17T= (n.*17T=) c.-11+47140T= (n.-11+47140T=) c.772T= (p.Leu258=) c.802T= (p.Leu268=) c.565T= (p.Leu189=) c.859T= (p.Leu287=) | |
| 7 | g.50495378A>C | CA367538086 | DDC,FIGNL1 | c.916T>G (p.Leu306Val) c.682T>G (p.Leu228Val) c.558T>G c.637T>G (p.Leu213Val) c.*17T>G (n.*17T>G) c.-11+47140T>G (n.-11+47140T>G) c.772T>G (p.Leu258Val) c.802T>G (p.Leu268Val) c.565T>G (p.Leu189Val) c.859T>G (p.Leu287Val) | ClinVar dbSNP |
| 7 | g.50495378A>G | CA454934989 | DDC,FIGNL1 | c.916T>C (p.Leu306=) c.682T>C (p.Leu228=) c.558T>C c.637T>C (p.Leu213=) c.*17T>C (n.*17T>C) c.-11+47140T>C (n.-11+47140T>C) c.772T>C (p.Leu258=) c.802T>C (p.Leu268=) c.565T>C (p.Leu189=) c.859T>C (p.Leu287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495378A>T | CA367538087 | DDC,FIGNL1 | c.916T>A (p.Leu306Met) c.682T>A (p.Leu228Met) c.558T>A c.637T>A (p.Leu213Met) c.*17T>A (n.*17T>A) c.-11+47140T>A (n.-11+47140T>A) c.772T>A (p.Leu258Met) c.802T>A (p.Leu268Met) c.565T>A (p.Leu189Met) c.859T>A (p.Leu287Met) | |
| 7 | g.50495379T>A | CA4262204 | DDC,FIGNL1 | c.915A>T (p.Leu305=) c.681A>T (p.Leu227=) c.557A>T c.636A>T (p.Leu212=) c.*16A>T (n.*16A>T) c.-11+47139A>T (n.-11+47139A>T) c.771A>T (p.Leu257=) c.801A>T (p.Leu267=) c.564A>T (p.Leu188=) c.858A>T (p.Leu286=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50495379T>C | CA454934992 | DDC,FIGNL1 | c.915A>G (p.Leu305=) c.681A>G (p.Leu227=) c.557A>G c.636A>G (p.Leu212=) c.*16A>G (n.*16A>G) c.-11+47139A>G (n.-11+47139A>G) c.771A>G (p.Leu257=) c.801A>G (p.Leu267=) c.564A>G (p.Leu188=) c.858A>G (p.Leu286=) | |
| 7 | g.50495379T>G | CA454934994 | DDC,FIGNL1 | c.915A>C (p.Leu305=) c.681A>C (p.Leu227=) c.557A>C c.636A>C (p.Leu212=) c.*16A>C (n.*16A>C) c.-11+47139A>C (n.-11+47139A>C) c.771A>C (p.Leu257=) c.801A>C (p.Leu267=) c.564A>C (p.Leu188=) c.858A>C (p.Leu286=) | |
| 7 | g.50495379T= | CA1706635416 | DDC,FIGNL1 | c.915A= (p.Leu305=) c.681A= (p.Leu227=) c.557A= c.636A= (p.Leu212=) c.*16A= (n.*16A=) c.-11+47139A= (n.-11+47139A=) c.771A= (p.Leu257=) c.801A= (p.Leu267=) c.564A= (p.Leu188=) c.858A= (p.Leu286=) | |
| 7 | g.50495380A>C | CA367538088 | DDC,FIGNL1 | c.914T>G (p.Leu305Arg) c.680T>G (p.Leu227Arg) c.556T>G c.635T>G (p.Leu212Arg) c.*15T>G (n.*15T>G) c.-11+47138T>G (n.-11+47138T>G) c.770T>G (p.Leu257Arg) c.800T>G (p.Leu267Arg) c.563T>G (p.Leu188Arg) c.857T>G (p.Leu286Arg) | |
| 7 | g.50495380A>G | CA367538089 | DDC,FIGNL1 | c.914T>C (p.Leu305Pro) c.680T>C (p.Leu227Pro) c.556T>C c.635T>C (p.Leu212Pro) c.*15T>C (n.*15T>C) c.-11+47138T>C (n.-11+47138T>C) c.770T>C (p.Leu257Pro) c.800T>C (p.Leu267Pro) c.563T>C (p.Leu188Pro) c.857T>C (p.Leu286Pro) | |
| 7 | g.50495380A>T | CA367538090 | DDC,FIGNL1 | c.914T>A (p.Leu305Gln) c.680T>A (p.Leu227Gln) c.556T>A c.635T>A (p.Leu212Gln) c.*15T>A (n.*15T>A) c.-11+47138T>A (n.-11+47138T>A) c.770T>A (p.Leu257Gln) c.800T>A (p.Leu267Gln) c.563T>A (p.Leu188Gln) c.857T>A (p.Leu286Gln) | |
| 7 | g.50495381G>A | CA454934999 | DDC,FIGNL1 | c.913C>T (p.Leu305=) c.679C>T (p.Leu227=) c.555C>T c.634C>T (p.Leu212=) c.*14C>T (n.*14C>T) c.-11+47137C>T (n.-11+47137C>T) c.769C>T (p.Leu257=) c.799C>T (p.Leu267=) c.562C>T (p.Leu188=) c.856C>T (p.Leu286=) | ClinVar gnomAD v4 |
| 7 | g.50495381G>C | CA367538091 | DDC,FIGNL1 | c.913C>G (p.Leu305Val) c.679C>G (p.Leu227Val) c.555C>G c.634C>G (p.Leu212Val) c.*14C>G (n.*14C>G) c.-11+47137C>G (n.-11+47137C>G) c.769C>G (p.Leu257Val) c.799C>G (p.Leu267Val) c.562C>G (p.Leu188Val) c.856C>G (p.Leu286Val) | |
| 7 | g.50495381G>T | CA367538092 | DDC,FIGNL1 | c.913C>A (p.Leu305Ile) c.679C>A (p.Leu227Ile) c.555C>A c.634C>A (p.Leu212Ile) c.*14C>A (n.*14C>A) c.-11+47137C>A (n.-11+47137C>A) c.769C>A (p.Leu257Ile) c.799C>A (p.Leu267Ile) c.562C>A (p.Leu188Ile) c.856C>A (p.Leu286Ile) | |
| 7 | g.50495382C>A | CA4262205 | DDC,FIGNL1 | c.912G>T (p.Trp304Cys) c.678G>T (p.Trp226Cys) c.554G>T c.633G>T (p.Trp211Cys) c.*13G>T (n.*13G>T) c.-11+47136G>T (n.-11+47136G>T) c.768G>T (p.Trp256Cys) c.798G>T (p.Trp266Cys) c.561G>T (p.Trp187Cys) c.855G>T (p.Trp285Cys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.50495382C= | CA1706635417 | DDC,FIGNL1 | c.912G= (p.Trp304=) c.678G= (p.Trp226=) c.554G= c.633G= (p.Trp211=) c.*13G= (n.*13G=) c.-11+47136G= (n.-11+47136G=) c.768G= (p.Trp256=) c.798G= (p.Trp266=) c.561G= (p.Trp187=) c.855G= (p.Trp285=) | |
| 7 | g.50495382C>G | CA367538093 | DDC,FIGNL1 | c.912G>C (p.Trp304Cys) c.678G>C (p.Trp226Cys) c.554G>C c.633G>C (p.Trp211Cys) c.*13G>C (n.*13G>C) c.-11+47136G>C (n.-11+47136G>C) c.768G>C (p.Trp256Cys) c.798G>C (p.Trp266Cys) c.561G>C (p.Trp187Cys) c.855G>C (p.Trp285Cys) | |
| 7 | g.50495382C>T | CA367538094 | DDC,FIGNL1 | c.912G>A (p.Trp304Ter) c.678G>A (p.Trp226Ter) c.554G>A c.633G>A (p.Trp211Ter) c.*13G>A (n.*13G>A) c.-11+47136G>A (n.-11+47136G>A) c.768G>A (p.Trp256Ter) c.798G>A (p.Trp266Ter) c.561G>A (p.Trp187Ter) c.855G>A (p.Trp285Ter) | |
| 7 | g.50495383C>A | CA367538095 | DDC,FIGNL1 | c.911G>T (p.Trp304Leu) c.677G>T (p.Trp226Leu) c.553G>T c.632G>T (p.Trp211Leu) c.*12G>T (n.*12G>T) c.-11+47135G>T (n.-11+47135G>T) c.767G>T (p.Trp256Leu) c.797G>T (p.Trp266Leu) c.560G>T (p.Trp187Leu) c.854G>T (p.Trp285Leu) | |
| 7 | g.50495383C>G | CA367538096 | DDC,FIGNL1 | c.911G>C (p.Trp304Ser) c.677G>C (p.Trp226Ser) c.553G>C c.632G>C (p.Trp211Ser) c.*12G>C (n.*12G>C) c.-11+47135G>C (n.-11+47135G>C) c.767G>C (p.Trp256Ser) c.797G>C (p.Trp266Ser) c.560G>C (p.Trp187Ser) c.854G>C (p.Trp285Ser) | |
| 7 | g.50495383C>T | CA367538097 | DDC,FIGNL1 | c.911G>A (p.Trp304Ter) c.677G>A (p.Trp226Ter) c.553G>A c.632G>A (p.Trp211Ter) c.*12G>A (n.*12G>A) c.-11+47135G>A (n.-11+47135G>A) c.767G>A (p.Trp256Ter) c.797G>A (p.Trp266Ter) c.560G>A (p.Trp187Ter) c.854G>A (p.Trp285Ter) | |
| 7 | g.50495384A>C | CA367538098 | DDC,FIGNL1 | c.910T>G (p.Trp304Gly) c.676T>G (p.Trp226Gly) c.552T>G c.631T>G (p.Trp211Gly) c.*11T>G (n.*11T>G) c.-11+47134T>G (n.-11+47134T>G) c.766T>G (p.Trp256Gly) c.796T>G (p.Trp266Gly) c.559T>G (p.Trp187Gly) c.853T>G (p.Trp285Gly) | |
| 7 | g.50495384A>G | CA367538099 | DDC,FIGNL1 | c.910T>C (p.Trp304Arg) c.676T>C (p.Trp226Arg) c.552T>C c.631T>C (p.Trp211Arg) c.*11T>C (n.*11T>C) c.-11+47134T>C (n.-11+47134T>C) c.766T>C (p.Trp256Arg) c.796T>C (p.Trp266Arg) c.559T>C (p.Trp187Arg) c.853T>C (p.Trp285Arg) | COSMIC |
| 7 | g.50495384A>T | CA367538100 | DDC,FIGNL1 | c.910T>A (p.Trp304Arg) c.676T>A (p.Trp226Arg) c.552T>A c.631T>A (p.Trp211Arg) c.*11T>A (n.*11T>A) c.-11+47134T>A (n.-11+47134T>A) c.766T>A (p.Trp256Arg) c.796T>A (p.Trp266Arg) c.559T>A (p.Trp187Arg) c.853T>A (p.Trp285Arg) | |
| 7 | g.50495385T>A | CA367538101 | DDC,FIGNL1 | c.909A>T (p.Lys303Asn) c.675A>T (p.Lys225Asn) c.551A>T c.630A>T (p.Lys210Asn) c.*10A>T (n.*10A>T) c.-11+47133A>T (n.-11+47133A>T) c.765A>T (p.Lys255Asn) c.795A>T (p.Lys265Asn) c.558A>T (p.Lys186Asn) c.852A>T (p.Lys284Asn) | |
| 7 | g.50495385T>C | CA454935008 | DDC,FIGNL1 | c.909A>G (p.Lys303=) c.675A>G (p.Lys225=) c.551A>G c.630A>G (p.Lys210=) c.*10A>G (n.*10A>G) c.-11+47133A>G (n.-11+47133A>G) c.765A>G (p.Lys255=) c.795A>G (p.Lys265=) c.558A>G (p.Lys186=) c.852A>G (p.Lys284=) | |
| 7 | g.50495385T>G | CA367538102 | DDC,FIGNL1 | c.909A>C (p.Lys303Asn) c.675A>C (p.Lys225Asn) c.551A>C c.630A>C (p.Lys210Asn) c.*10A>C (n.*10A>C) c.-11+47133A>C (n.-11+47133A>C) c.765A>C (p.Lys255Asn) c.795A>C (p.Lys265Asn) c.558A>C (p.Lys186Asn) c.852A>C (p.Lys284Asn) | |
| 7 | g.50495386T>A | CA367538103 | DDC,FIGNL1 | c.908A>T (p.Lys303Ile) c.674A>T (p.Lys225Ile) c.550A>T c.629A>T (p.Lys210Ile) c.*9A>T (n.*9A>T) c.-11+47132A>T (n.-11+47132A>T) c.764A>T (p.Lys255Ile) c.794A>T (p.Lys265Ile) c.557A>T (p.Lys186Ile) c.851A>T (p.Lys284Ile) | |
| 7 | g.50495386T>C | CA367538104 | DDC,FIGNL1 | c.908A>G (p.Lys303Arg) c.674A>G (p.Lys225Arg) c.550A>G c.629A>G (p.Lys210Arg) c.*9A>G (n.*9A>G) c.-11+47132A>G (n.-11+47132A>G) c.764A>G (p.Lys255Arg) c.794A>G (p.Lys265Arg) c.557A>G (p.Lys186Arg) c.851A>G (p.Lys284Arg) | |
| 7 | g.50495386T>G | CA367538105 | DDC,FIGNL1 | c.908A>C (p.Lys303Thr) c.674A>C (p.Lys225Thr) c.550A>C c.629A>C (p.Lys210Thr) c.*9A>C (n.*9A>C) c.-11+47132A>C (n.-11+47132A>C) c.764A>C (p.Lys255Thr) c.794A>C (p.Lys265Thr) c.557A>C (p.Lys186Thr) c.851A>C (p.Lys284Thr) | |
| 7 | g.50495387T>A | CA367538108 | DDC,FIGNL1 | c.907A>T (p.Lys303Ter) c.673A>T (p.Lys225Ter) c.549A>T c.628A>T (p.Lys210Ter) c.*8A>T (n.*8A>T) c.-11+47131A>T (n.-11+47131A>T) c.763A>T (p.Lys255Ter) c.793A>T (p.Lys265Ter) c.556A>T (p.Lys186Ter) c.850A>T (p.Lys284Ter) | |
| 7 | g.50495387T>C | CA367538107 | DDC,FIGNL1 | c.907A>G (p.Lys303Glu) c.673A>G (p.Lys225Glu) c.549A>G c.628A>G (p.Lys210Glu) c.*8A>G (n.*8A>G) c.-11+47131A>G (n.-11+47131A>G) c.763A>G (p.Lys255Glu) c.793A>G (p.Lys265Glu) c.556A>G (p.Lys186Glu) c.850A>G (p.Lys284Glu) | |
| 7 | g.50495387T>G | CA367538106 | DDC,FIGNL1 | c.907A>C (p.Lys303Gln) c.673A>C (p.Lys225Gln) c.549A>C c.628A>C (p.Lys210Gln) c.*8A>C (n.*8A>C) c.-11+47131A>C (n.-11+47131A>C) c.763A>C (p.Lys255Gln) c.793A>C (p.Lys265Gln) c.556A>C (p.Lys186Gln) c.850A>C (p.Lys284Gln) | |
| 7 | g.50495388G>A | CA454935010 | DDC,FIGNL1 | c.906C>T (p.His302=) c.672C>T (p.His224=) c.548C>T c.627C>T (p.His209=) c.*7C>T (n.*7C>T) c.-11+47130C>T (n.-11+47130C>T) c.762C>T (p.His254=) c.792C>T (p.His264=) c.555C>T (p.His185=) c.849C>T (p.His283=) | |
| 7 | g.50495388G>C | CA367538109 | DDC,FIGNL1 | c.906C>G (p.His302Gln) c.672C>G (p.His224Gln) c.548C>G c.627C>G (p.His209Gln) c.*7C>G (n.*7C>G) c.-11+47130C>G (n.-11+47130C>G) c.762C>G (p.His254Gln) c.792C>G (p.His264Gln) c.555C>G (p.His185Gln) c.849C>G (p.His283Gln) | |
| 7 | g.50495388G>T | CA367538110 | DDC,FIGNL1 | c.906C>A (p.His302Gln) c.672C>A (p.His224Gln) c.548C>A c.627C>A (p.His209Gln) c.*7C>A (n.*7C>A) c.-11+47130C>A (n.-11+47130C>A) c.762C>A (p.His254Gln) c.792C>A (p.His264Gln) c.555C>A (p.His185Gln) c.849C>A (p.His283Gln) | |
| 7 | g.50495389T>A | CA367538111 | DDC,FIGNL1 | c.905A>T (p.His302Leu) c.671A>T (p.His224Leu) c.547A>T c.626A>T (p.His209Leu) c.*6A>T (n.*6A>T) c.-11+47129A>T (n.-11+47129A>T) c.761A>T (p.His254Leu) c.791A>T (p.His264Leu) c.554A>T (p.His185Leu) c.848A>T (p.His283Leu) | |
| 7 | g.50495389T>C | CA367538112 | DDC,FIGNL1 | c.905A>G (p.His302Arg) c.671A>G (p.His224Arg) c.547A>G c.626A>G (p.His209Arg) c.*6A>G (n.*6A>G) c.-11+47129A>G (n.-11+47129A>G) c.761A>G (p.His254Arg) c.791A>G (p.His264Arg) c.554A>G (p.His185Arg) c.848A>G (p.His283Arg) | |
| 7 | g.50495389T>G | CA367538113 | DDC,FIGNL1 | c.905A>C (p.His302Pro) c.671A>C (p.His224Pro) c.547A>C c.626A>C (p.His209Pro) c.*6A>C (n.*6A>C) c.-11+47129A>C (n.-11+47129A>C) c.761A>C (p.His254Pro) c.791A>C (p.His264Pro) c.554A>C (p.His185Pro) c.848A>C (p.His283Pro) | |
| 7 | g.50495390G>A | CA367538114 | DDC,FIGNL1 | c.904C>T (p.His302Tyr) c.670C>T (p.His224Tyr) c.546C>T c.625C>T (p.His209Tyr) c.*5C>T (n.*5C>T) c.-11+47128C>T (n.-11+47128C>T) c.760C>T (p.His254Tyr) c.790C>T (p.His264Tyr) c.553C>T (p.His185Tyr) c.847C>T (p.His283Tyr) | |
| 7 | g.50495390G>C | CA367538115 | DDC,FIGNL1 | c.904C>G (p.His302Asp) c.670C>G (p.His224Asp) c.546C>G c.625C>G (p.His209Asp) c.*5C>G (n.*5C>G) c.-11+47128C>G (n.-11+47128C>G) c.760C>G (p.His254Asp) c.790C>G (p.His264Asp) c.553C>G (p.His185Asp) c.847C>G (p.His283Asp) | |
| 7 | g.50495390G>T | CA367538116 | DDC,FIGNL1 | c.904C>A (p.His302Asn) c.670C>A (p.His224Asn) c.546C>A c.625C>A (p.His209Asn) c.*5C>A (n.*5C>A) c.-11+47128C>A (n.-11+47128C>A) c.760C>A (p.His254Asn) c.790C>A (p.His264Asn) c.553C>A (p.His185Asn) c.847C>A (p.His283Asn) | |
| 7 | g.50495391G>A | CA454935017 | DDC,FIGNL1 | c.903C>T (p.Pro301=) c.669C>T (p.Pro223=) c.545C>T c.624C>T (p.Pro208=) c.*4C>T (n.*4C>T) c.-11+47127C>T (n.-11+47127C>T) c.759C>T (p.Pro253=) c.789C>T (p.Pro263=) c.552C>T (p.Pro184=) c.846C>T (p.Pro282=) | ClinVar gnomAD v4 |
| 7 | g.50495391G>C | CA454935019 | DDC,FIGNL1 | c.903C>G (p.Pro301=) c.669C>G (p.Pro223=) c.545C>G c.624C>G (p.Pro208=) c.*4C>G (n.*4C>G) c.-11+47127C>G (n.-11+47127C>G) c.759C>G (p.Pro253=) c.789C>G (p.Pro263=) c.552C>G (p.Pro184=) c.846C>G (p.Pro282=) | |
| 7 | g.50495391G>T | CA454935020 | DDC,FIGNL1 | c.903C>A (p.Pro301=) c.669C>A (p.Pro223=) c.545C>A c.624C>A (p.Pro208=) c.*4C>A (n.*4C>A) c.-11+47127C>A (n.-11+47127C>A) c.759C>A (p.Pro253=) c.789C>A (p.Pro263=) c.552C>A (p.Pro184=) c.846C>A (p.Pro282=) | |
| 7 | g.50495392G>A | CA367538117 | DDC,FIGNL1 | c.902C>T (p.Pro301Leu) c.668C>T (p.Pro223Leu) c.544C>T c.623C>T (p.Pro208Leu) c.*3C>T (n.*3C>T) c.-11+47126C>T (n.-11+47126C>T) c.758C>T (p.Pro253Leu) c.788C>T (p.Pro263Leu) c.551C>T (p.Pro184Leu) c.845C>T (p.Pro282Leu) | |
| 7 | g.50495392G>C | CA367538118 | DDC,FIGNL1 | c.902C>G (p.Pro301Arg) c.668C>G (p.Pro223Arg) c.544C>G c.623C>G (p.Pro208Arg) c.*3C>G (n.*3C>G) c.-11+47126C>G (n.-11+47126C>G) c.758C>G (p.Pro253Arg) c.788C>G (p.Pro263Arg) c.551C>G (p.Pro184Arg) c.845C>G (p.Pro282Arg) | |
| 7 | g.50495392G>T | CA367538119 | DDC,FIGNL1 | c.902C>A (p.Pro301His) c.668C>A (p.Pro223His) c.544C>A c.623C>A (p.Pro208His) c.*3C>A (n.*3C>A) c.-11+47126C>A (n.-11+47126C>A) c.758C>A (p.Pro253His) c.788C>A (p.Pro263His) c.551C>A (p.Pro184His) c.845C>A (p.Pro282His) | |
| 7 | g.50495393G>A | CA367538120 | DDC,FIGNL1 | c.901C>T (p.Pro301Ser) c.667C>T (p.Pro223Ser) c.543C>T c.622C>T (p.Pro208Ser) c.*2C>T (n.*2C>T) c.-11+47125C>T (n.-11+47125C>T) c.757C>T (p.Pro253Ser) c.787C>T (p.Pro263Ser) c.550C>T (p.Pro184Ser) c.844C>T (p.Pro282Ser) | COSMIC COSMIC |
| 7 | g.50495393G>C | CA367538121 | DDC,FIGNL1 | c.901C>G (p.Pro301Ala) c.667C>G (p.Pro223Ala) c.543C>G c.622C>G (p.Pro208Ala) c.*2C>G (n.*2C>G) c.-11+47125C>G (n.-11+47125C>G) c.757C>G (p.Pro253Ala) c.787C>G (p.Pro263Ala) c.550C>G (p.Pro184Ala) c.844C>G (p.Pro282Ala) | |
| 7 | g.50495393G>T | CA367538122 | DDC,FIGNL1 | c.901C>A (p.Pro301Thr) c.667C>A (p.Pro223Thr) c.543C>A c.622C>A (p.Pro208Thr) c.*2C>A (n.*2C>A) c.-11+47125C>A (n.-11+47125C>A) c.757C>A (p.Pro253Thr) c.787C>A (p.Pro263Thr) c.550C>A (p.Pro184Thr) c.844C>A (p.Pro282Thr) | |
| 7 | g.50495394A= | CA1706635418 | DDC,FIGNL1 | c.900T= (p.Asn300=) c.666T= (p.Asn222=) c.542T= c.621T= (p.Asn207=) c.*1T= (n.*1T=) c.-11+47124T= (n.-11+47124T=) c.756T= (p.Asn252=) c.786T= (p.Asn262=) c.549T= (p.Asn183=) c.843T= (p.Asn281=) | |
| 7 | g.50495394A>C | CA367538124 | DDC,FIGNL1 | c.900T>G (p.Asn300Lys) c.666T>G (p.Asn222Lys) c.542T>G c.621T>G (p.Asn207Lys) c.*1T>G (n.*1T>G) c.-11+47124T>G (n.-11+47124T>G) c.756T>G (p.Asn252Lys) c.786T>G (p.Asn262Lys) c.549T>G (p.Asn183Lys) c.843T>G (p.Asn281Lys) | |
| 7 | g.50495394A>G | CA4262206 | DDC,FIGNL1 | c.900T>C (p.Asn300=) c.666T>C (p.Asn222=) c.542T>C c.621T>C (p.Asn207=) c.*1T>C (n.*1T>C) c.-11+47124T>C (n.-11+47124T>C) c.756T>C (p.Asn252=) c.786T>C (p.Asn262=) c.549T>C (p.Asn183=) c.843T>C (p.Asn281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50495394A>T | CA367538123 | DDC,FIGNL1 | c.900T>A (p.Asn300Lys) c.666T>A (p.Asn222Lys) c.542T>A c.621T>A (p.Asn207Lys) c.*1T>A (n.*1T>A) c.-11+47124T>A (n.-11+47124T>A) c.756T>A (p.Asn252Lys) c.786T>A (p.Asn262Lys) c.549T>A (p.Asn183Lys) c.843T>A (p.Asn281Lys) | |
| 7 | g.50495395T>A | CA367538125 | DDC,FIGNL1 | c.899A>T (p.Asn300Ile) c.665A>T (p.Asn222Ile) c.541A>T c.620A>T (p.Asn207Ile) c.690A>T (p.Ter230Tyr) c.-11+47123A>T (n.-11+47123A>T) c.755A>T (p.Asn252Ile) c.785A>T (p.Asn262Ile) c.548A>T (p.Asn183Ile) c.842A>T (p.Asn281Ile) | |
| 7 | g.50495395T>C | CA367538126 | DDC,FIGNL1 | c.899A>G (p.Asn300Ser) c.665A>G (p.Asn222Ser) c.541A>G c.620A>G (p.Asn207Ser) c.690A>G (p.Ter230=) c.-11+47123A>G (n.-11+47123A>G) c.755A>G (p.Asn252Ser) c.785A>G (p.Asn262Ser) c.548A>G (p.Asn183Ser) c.842A>G (p.Asn281Ser) | |
| 7 | g.50495395T>G | CA367538127 | DDC,FIGNL1 | c.899A>C (p.Asn300Thr) c.665A>C (p.Asn222Thr) c.541A>C c.620A>C (p.Asn207Thr) c.690A>C (p.Ter230Tyr) c.-11+47123A>C (n.-11+47123A>C) c.755A>C (p.Asn252Thr) c.785A>C (p.Asn262Thr) c.548A>C (p.Asn183Thr) c.842A>C (p.Asn281Thr) | |
| 7 | g.50495396del | CA2695207768 | DDC,FIGNL1 | c.899del (p.Asn300IlefsTer8) c.665del (p.Asn222IlefsTer8) c.541del c.620del (p.Asn207IlefsTer8) c.690del (p.Ter230TyrextTer?) c.-11+47123del (n.-11+47123del) c.755del (p.Asn252IlefsTer8) c.785del (p.Asn262IlefsTer8) c.548del (p.Asn183IlefsTer8) c.842del (p.Asn281IlefsTer8) | |
| 7 | g.50495396T>A | CA367538128 | DDC,FIGNL1 | c.898A>T (p.Asn300Tyr) c.664A>T (p.Asn222Tyr) c.540A>T c.619A>T (p.Asn207Tyr) c.689A>T (p.Ter230Leu) c.-11+47122A>T (n.-11+47122A>T) c.754A>T (p.Asn252Tyr) c.784A>T (p.Asn262Tyr) c.547A>T (p.Asn183Tyr) c.841A>T (p.Asn281Tyr) | |
| 7 | g.50495396T>C | CA367538129 | DDC,FIGNL1 | c.898A>G (p.Asn300Asp) c.664A>G (p.Asn222Asp) c.540A>G c.619A>G (p.Asn207Asp) c.689A>G (p.Ter230=) c.-11+47122A>G (n.-11+47122A>G) c.754A>G (p.Asn252Asp) c.784A>G (p.Asn262Asp) c.547A>G (p.Asn183Asp) c.841A>G (p.Asn281Asp) | |
| 7 | g.50495396T>G | CA367538130 | DDC,FIGNL1 | c.898A>C (p.Asn300His) c.664A>C (p.Asn222His) c.540A>C c.619A>C (p.Asn207His) c.689A>C (p.Ter230Ser) c.-11+47122A>C (n.-11+47122A>C) c.754A>C (p.Asn252His) c.784A>C (p.Asn262His) c.547A>C (p.Asn183His) c.841A>C (p.Asn281His) | |
| 7 | g.50495397A>C | CA367538131 | DDC,FIGNL1 | c.897T>G (p.Phe299Leu) c.663T>G (p.Phe221Leu) c.539T>G c.618T>G (p.Phe206Leu) c.688T>G (p.Ter230Glu) c.-11+47121T>G (n.-11+47121T>G) c.753T>G (p.Phe251Leu) c.783T>G (p.Phe261Leu) c.546T>G (p.Phe182Leu) c.840T>G (p.Phe280Leu) | |
| 7 | g.50495397A>G | CA454935032 | DDC,FIGNL1 | c.897T>C (p.Phe299=) c.663T>C (p.Phe221=) c.539T>C c.618T>C (p.Phe206=) c.688T>C (p.Ter230Gln) c.-11+47121T>C (n.-11+47121T>C) c.753T>C (p.Phe251=) c.783T>C (p.Phe261=) c.546T>C (p.Phe182=) c.840T>C (p.Phe280=) | |
| 7 | g.50495397A>T | CA367538132 | DDC,FIGNL1 | c.897T>A (p.Phe299Leu) c.663T>A (p.Phe221Leu) c.539T>A c.618T>A (p.Phe206Leu) c.688T>A (p.Ter230Lys) c.-11+47121T>A (n.-11+47121T>A) c.753T>A (p.Phe251Leu) c.783T>A (p.Phe261Leu) c.546T>A (p.Phe182Leu) c.840T>A (p.Phe280Leu) | |
| 7 | g.50495398A>C | CA367538133 | DDC,FIGNL1 | c.896T>G (p.Phe299Cys) c.662T>G (p.Phe221Cys) c.538T>G c.617T>G (p.Phe206Cys) c.687T>G (p.Leu229=) c.-11+47120T>G (n.-11+47120T>G) c.752T>G (p.Phe251Cys) c.782T>G (p.Phe261Cys) c.545T>G (p.Phe182Cys) c.839T>G (p.Phe280Cys) | |
| 7 | g.50495398A>G | CA367538134 | DDC,FIGNL1 | c.896T>C (p.Phe299Ser) c.662T>C (p.Phe221Ser) c.538T>C c.617T>C (p.Phe206Ser) c.687T>C (p.Leu229=) c.-11+47120T>C (n.-11+47120T>C) c.752T>C (p.Phe251Ser) c.782T>C (p.Phe261Ser) c.545T>C (p.Phe182Ser) c.839T>C (p.Phe280Ser) | ClinVar dbSNP |
| 7 | g.50495398A>T | CA367538135 | DDC,FIGNL1 | c.896T>A (p.Phe299Tyr) c.662T>A (p.Phe221Tyr) c.538T>A c.617T>A (p.Phe206Tyr) c.687T>A (p.Leu229=) c.-11+47120T>A (n.-11+47120T>A) c.752T>A (p.Phe251Tyr) c.782T>A (p.Phe261Tyr) c.545T>A (p.Phe182Tyr) c.839T>A (p.Phe280Tyr) | |
| 7 | g.50495399A>C | CA367538137 | DDC,FIGNL1 | c.895T>G (p.Phe299Val) c.661T>G (p.Phe221Val) c.537T>G c.616T>G (p.Phe206Val) c.686T>G (p.Leu229Arg) c.-11+47119T>G (n.-11+47119T>G) c.751T>G (p.Phe251Val) c.781T>G (p.Phe261Val) c.544T>G (p.Phe182Val) c.838T>G (p.Phe280Val) | |
| 7 | g.50495399A>G | CA367538138 | DDC,FIGNL1 | c.895T>C (p.Phe299Leu) c.661T>C (p.Phe221Leu) c.537T>C c.616T>C (p.Phe206Leu) c.686T>C (p.Leu229Pro) c.-11+47119T>C (n.-11+47119T>C) c.751T>C (p.Phe251Leu) c.781T>C (p.Phe261Leu) c.544T>C (p.Phe182Leu) c.838T>C (p.Phe280Leu) | |
| 7 | g.50495399A>T | CA367538136 | DDC,FIGNL1 | c.895T>A (p.Phe299Ile) c.661T>A (p.Phe221Ile) c.537T>A c.616T>A (p.Phe206Ile) c.686T>A (p.Leu229His) c.-11+47119T>A (n.-11+47119T>A) c.751T>A (p.Phe251Ile) c.781T>A (p.Phe261Ile) c.544T>A (p.Phe182Ile) c.838T>A (p.Phe280Ile) | |
| 7 | g.50495400G>A | CA454935039 | DDC,FIGNL1 | c.894C>T (p.Asn298=) c.660C>T (p.Asn220=) c.536C>T c.615C>T (p.Asn205=) c.685C>T (p.Leu229Phe) c.-11+47118C>T (n.-11+47118C>T) c.750C>T (p.Asn250=) c.780C>T (p.Asn260=) c.543C>T (p.Asn181=) c.837C>T (p.Asn279=) | gnomAD v4 |
| 7 | g.50495400G>C | CA367538139 | DDC,FIGNL1 | c.894C>G (p.Asn298Lys) c.660C>G (p.Asn220Lys) c.536C>G c.615C>G (p.Asn205Lys) c.685C>G (p.Leu229Val) c.-11+47118C>G (n.-11+47118C>G) c.750C>G (p.Asn250Lys) c.780C>G (p.Asn260Lys) c.543C>G (p.Asn181Lys) c.837C>G (p.Asn279Lys) | |
| 7 | g.50495400G>T | CA367538140 | DDC,FIGNL1 | c.894C>A (p.Asn298Lys) c.660C>A (p.Asn220Lys) c.536C>A c.615C>A (p.Asn205Lys) c.685C>A (p.Leu229Ile) c.-11+47118C>A (n.-11+47118C>A) c.750C>A (p.Asn250Lys) c.780C>A (p.Asn260Lys) c.543C>A (p.Asn181Lys) c.837C>A (p.Asn279Lys) | gnomAD v4 |
| 7 | g.50495401T>A | CA367538141 | DDC,FIGNL1 | c.893A>T (p.Asn298Ile) c.659A>T (p.Asn220Ile) c.535A>T c.614A>T (p.Asn205Ile) c.684A>T (p.Gln228His) c.-11+47117A>T (n.-11+47117A>T) c.749A>T (p.Asn250Ile) c.779A>T (p.Asn260Ile) c.542A>T (p.Asn181Ile) c.836A>T (p.Asn279Ile) | |
| 7 | g.50495401T>C | CA367538142 | DDC,FIGNL1 | c.893A>G (p.Asn298Ser) c.659A>G (p.Asn220Ser) c.535A>G c.614A>G (p.Asn205Ser) c.684A>G (p.Gln228=) c.-11+47117A>G (n.-11+47117A>G) c.749A>G (p.Asn250Ser) c.779A>G (p.Asn260Ser) c.542A>G (p.Asn181Ser) c.836A>G (p.Asn279Ser) | ClinVar gnomAD v4 |
| 7 | g.50495401T>G | CA367538143 | DDC,FIGNL1 | c.893A>C (p.Asn298Thr) c.659A>C (p.Asn220Thr) c.535A>C c.614A>C (p.Asn205Thr) c.684A>C (p.Gln228His) c.-11+47117A>C (n.-11+47117A>C) c.749A>C (p.Asn250Thr) c.779A>C (p.Asn260Thr) c.542A>C (p.Asn181Thr) c.836A>C (p.Asn279Thr) | |
| 7 | g.50495402T>A | CA367538144 | DDC,FIGNL1 | c.892A>T (p.Asn298Tyr) c.658A>T (p.Asn220Tyr) c.534A>T c.613A>T (p.Asn205Tyr) c.683A>T (p.Gln228Leu) c.-11+47116A>T (n.-11+47116A>T) c.748A>T (p.Asn250Tyr) c.778A>T (p.Asn260Tyr) c.541A>T (p.Asn181Tyr) c.835A>T (p.Asn279Tyr) | |
| 7 | g.50495402T>C | CA367538145 | DDC,FIGNL1 | c.892A>G (p.Asn298Asp) c.658A>G (p.Asn220Asp) c.534A>G c.613A>G (p.Asn205Asp) c.683A>G (p.Gln228Arg) c.-11+47116A>G (n.-11+47116A>G) c.748A>G (p.Asn250Asp) c.778A>G (p.Asn260Asp) c.541A>G (p.Asn181Asp) c.835A>G (p.Asn279Asp) | |
| 7 | g.50495402T>G | CA367538146 | DDC,FIGNL1 | c.892A>C (p.Asn298His) c.658A>C (p.Asn220His) c.534A>C c.613A>C (p.Asn205His) c.683A>C (p.Gln228Pro) c.-11+47116A>C (n.-11+47116A>C) c.748A>C (p.Asn250His) c.778A>C (p.Asn260His) c.541A>C (p.Asn181His) c.835A>C (p.Asn279His) | |
| 7 | g.50495403G>A | CA454935046 | DDC,FIGNL1 | c.891C>T (p.Phe297=) c.657C>T (p.Phe219=) c.533C>T c.612C>T (p.Phe204=) c.682C>T (p.Gln228Ter) c.-11+47115C>T (n.-11+47115C>T) c.747C>T (p.Phe249=) c.777C>T (p.Phe259=) c.540C>T (p.Phe180=) c.834C>T (p.Phe278=) | |
| 7 | g.50495403G>C | CA367538147 | DDC,FIGNL1 | c.891C>G (p.Phe297Leu) c.657C>G (p.Phe219Leu) c.533C>G c.612C>G (p.Phe204Leu) c.682C>G (p.Gln228Glu) c.-11+47115C>G (n.-11+47115C>G) c.747C>G (p.Phe249Leu) c.777C>G (p.Phe259Leu) c.540C>G (p.Phe180Leu) c.834C>G (p.Phe278Leu) | |
| 7 | g.50495403G>T | CA367538148 | DDC,FIGNL1 | c.891C>A (p.Phe297Leu) c.657C>A (p.Phe219Leu) c.533C>A c.612C>A (p.Phe204Leu) c.682C>A (p.Gln228Lys) c.-11+47115C>A (n.-11+47115C>A) c.747C>A (p.Phe249Leu) c.777C>A (p.Phe259Leu) c.540C>A (p.Phe180Leu) c.834C>A (p.Phe278Leu) | gnomAD v4 |
| 7 | g.50495404A>C | CA367538149 | DDC,FIGNL1 | c.890T>G (p.Phe297Cys) c.656T>G (p.Phe219Cys) c.532T>G c.611T>G (p.Phe204Cys) c.681T>G (p.Ile227Met) c.-11+47114T>G (n.-11+47114T>G) c.746T>G (p.Phe249Cys) c.776T>G (p.Phe259Cys) c.539T>G (p.Phe180Cys) c.833T>G (p.Phe278Cys) | |
| 7 | g.50495404A>G | CA367538150 | DDC,FIGNL1 | c.890T>C (p.Phe297Ser) c.656T>C (p.Phe219Ser) c.532T>C c.611T>C (p.Phe204Ser) c.681T>C (p.Ile227=) c.-11+47114T>C (n.-11+47114T>C) c.746T>C (p.Phe249Ser) c.776T>C (p.Phe259Ser) c.539T>C (p.Phe180Ser) c.833T>C (p.Phe278Ser) | |
| 7 | g.50495404A>T | CA367538151 | DDC,FIGNL1 | c.890T>A (p.Phe297Tyr) c.656T>A (p.Phe219Tyr) c.532T>A c.611T>A (p.Phe204Tyr) c.681T>A (p.Ile227=) c.-11+47114T>A (n.-11+47114T>A) c.746T>A (p.Phe249Tyr) c.776T>A (p.Phe259Tyr) c.539T>A (p.Phe180Tyr) c.833T>A (p.Phe278Tyr) | |
| 7 | g.50495405A>C | CA367538154 | DDC,FIGNL1 | c.889T>G (p.Phe297Val) c.655T>G (p.Phe219Val) c.531T>G c.610T>G (p.Phe204Val) c.680T>G (p.Ile227Ser) c.-11+47113T>G (n.-11+47113T>G) c.745T>G (p.Phe249Val) c.775T>G (p.Phe259Val) c.538T>G (p.Phe180Val) c.832T>G (p.Phe278Val) | |
| 7 | g.50495405A>G | CA367538153 | DDC,FIGNL1 | c.889T>C (p.Phe297Leu) c.655T>C (p.Phe219Leu) c.531T>C c.610T>C (p.Phe204Leu) c.680T>C (p.Ile227Thr) c.-11+47113T>C (n.-11+47113T>C) c.745T>C (p.Phe249Leu) c.775T>C (p.Phe259Leu) c.538T>C (p.Phe180Leu) c.832T>C (p.Phe278Leu) | gnomAD v4 |
| 7 | g.50495405A>T | CA367538152 | DDC,FIGNL1 | c.889T>A (p.Phe297Ile) c.655T>A (p.Phe219Ile) c.531T>A c.610T>A (p.Phe204Ile) c.680T>A (p.Ile227Asn) c.-11+47113T>A (n.-11+47113T>A) c.745T>A (p.Phe249Ile) c.775T>A (p.Phe259Ile) c.538T>A (p.Phe180Ile) c.832T>A (p.Phe278Ile) | |
| 7 | g.50495406T>A | CA454935053 | DDC,FIGNL1 | c.888A>T (p.Ser296=) c.654A>T (p.Ser218=) c.530A>T c.609A>T (p.Ser203=) c.679A>T (p.Ile227Phe) c.-11+47112A>T (n.-11+47112A>T) c.744A>T (p.Ser248=) c.774A>T (p.Ser258=) c.537A>T (p.Ser179=) c.831A>T (p.Ser277=) | |
| 7 | g.50495406T>C | CA454935054 | DDC,FIGNL1 | c.888A>G (p.Ser296=) c.654A>G (p.Ser218=) c.530A>G c.609A>G (p.Ser203=) c.679A>G (p.Ile227Val) c.-11+47112A>G (n.-11+47112A>G) c.744A>G (p.Ser248=) c.774A>G (p.Ser258=) c.537A>G (p.Ser179=) c.831A>G (p.Ser277=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50495406T>G | CA454935056 | DDC,FIGNL1 | c.888A>C (p.Ser296=) c.654A>C (p.Ser218=) c.530A>C c.609A>C (p.Ser203=) c.679A>C (p.Ile227Leu) c.-11+47112A>C (n.-11+47112A>C) c.744A>C (p.Ser248=) c.774A>C (p.Ser258=) c.537A>C (p.Ser179=) c.831A>C (p.Ser277=) | |
| 7 | g.50495406T= | CA1706635419 | DDC,FIGNL1 | c.888A= (p.Ser296=) c.654A= (p.Ser218=) c.530A= c.609A= (p.Ser203=) c.679A= (p.Ile227=) c.-11+47112A= (n.-11+47112A=) c.744A= (p.Ser248=) c.774A= (p.Ser258=) c.537A= (p.Ser179=) c.831A= (p.Ser277=) | |
| 7 | g.50495407G>A | CA367538155 | DDC,FIGNL1 | c.887C>T (p.Ser296Leu) c.653C>T (p.Ser218Leu) c.529C>T c.608C>T (p.Ser203Leu) c.678C>T (p.Phe226=) c.-11+47111C>T (n.-11+47111C>T) c.743C>T (p.Ser248Leu) c.773C>T (p.Ser258Leu) c.536C>T (p.Ser179Leu) c.830C>T (p.Ser277Leu) | |
| 7 | g.50495407G>C | CA367538156 | DDC,FIGNL1 | c.887C>G (p.Ser296Ter) c.653C>G (p.Ser218Ter) c.529C>G c.608C>G (p.Ser203Ter) c.678C>G (p.Phe226Leu) c.-11+47111C>G (n.-11+47111C>G) c.743C>G (p.Ser248Ter) c.773C>G (p.Ser258Ter) c.536C>G (p.Ser179Ter) c.830C>G (p.Ser277Ter) | |
| 7 | g.50495407G>T | CA367538157 | DDC,FIGNL1 | c.887C>A (p.Ser296Ter) c.653C>A (p.Ser218Ter) c.529C>A c.608C>A (p.Ser203Ter) c.678C>A (p.Phe226Leu) c.-11+47111C>A (n.-11+47111C>A) c.743C>A (p.Ser248Ter) c.773C>A (p.Ser258Ter) c.536C>A (p.Ser179Ter) c.830C>A (p.Ser277Ter) | |
| 7 | g.50495408A= | CA1706635420 | DDC,FIGNL1 | c.886T= (p.Ser296=) c.652T= (p.Ser218=) c.528T= c.607T= (p.Ser203=) c.677T= (p.Phe226=) c.-11+47110T= (n.-11+47110T=) c.742T= (p.Ser248=) c.772T= (p.Ser258=) c.535T= (p.Ser179=) c.829T= (p.Ser277=) | |
| 7 | g.50495408A>C | CA367538158 | DDC,FIGNL1 | c.886T>G (p.Ser296Ala) c.652T>G (p.Ser218Ala) c.528T>G c.607T>G (p.Ser203Ala) c.677T>G (p.Phe226Cys) c.-11+47110T>G (n.-11+47110T>G) c.742T>G (p.Ser248Ala) c.772T>G (p.Ser258Ala) c.535T>G (p.Ser179Ala) c.829T>G (p.Ser277Ala) | |
| 7 | g.50495408A>G | CA367538159 | DDC,FIGNL1 | c.886T>C (p.Ser296Pro) c.652T>C (p.Ser218Pro) c.528T>C c.607T>C (p.Ser203Pro) c.677T>C (p.Phe226Ser) c.-11+47110T>C (n.-11+47110T>C) c.742T>C (p.Ser248Pro) c.772T>C (p.Ser258Pro) c.535T>C (p.Ser179Pro) c.829T>C (p.Ser277Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50495408A>T | CA367538160 | DDC,FIGNL1 | c.886T>A (p.Ser296Thr) c.652T>A (p.Ser218Thr) c.528T>A c.607T>A (p.Ser203Thr) c.677T>A (p.Phe226Tyr) c.-11+47110T>A (n.-11+47110T>A) c.742T>A (p.Ser248Thr) c.772T>A (p.Ser258Thr) c.535T>A (p.Ser179Thr) c.829T>A (p.Ser277Thr) | |
| 7 | g.50495409A>C | CA367538161 | DDC,FIGNL1 | c.885T>G (p.Asp295Glu) c.651T>G (p.Asp217Glu) c.527T>G c.606T>G (p.Asp202Glu) c.676T>G (p.Phe226Val) c.-11+47109T>G (n.-11+47109T>G) c.741T>G (p.Asp247Glu) c.771T>G (p.Asp257Glu) c.534T>G (p.Asp178Glu) c.828T>G (p.Asp276Glu) | |
| 7 | g.50495409A>G | CA454935063 | DDC,FIGNL1 | c.885T>C (p.Asp295=) c.651T>C (p.Asp217=) c.527T>C c.606T>C (p.Asp202=) c.676T>C (p.Phe226Leu) c.-11+47109T>C (n.-11+47109T>C) c.741T>C (p.Asp247=) c.771T>C (p.Asp257=) c.534T>C (p.Asp178=) c.828T>C (p.Asp276=) | |
| 7 | g.50495409A>T | CA367538162 | DDC,FIGNL1 | c.885T>A (p.Asp295Glu) c.651T>A (p.Asp217Glu) c.527T>A c.606T>A (p.Asp202Glu) c.676T>A (p.Phe226Ile) c.-11+47109T>A (n.-11+47109T>A) c.741T>A (p.Asp247Glu) c.771T>A (p.Asp257Glu) c.534T>A (p.Asp178Glu) c.828T>A (p.Asp276Glu) | |
| 7 | g.50495410T>A | CA367538163 | DDC,FIGNL1 | c.884A>T (p.Asp295Val) c.650A>T (p.Asp217Val) c.526A>T c.605A>T (p.Asp202Val) c.675A>T (p.Arg225Ser) c.-11+47108A>T (n.-11+47108A>T) c.740A>T (p.Asp247Val) c.770A>T (p.Asp257Val) c.533A>T (p.Asp178Val) c.827A>T (p.Asp276Val) | |
| 7 | g.50495410T>C | CA158228927 | DDC,FIGNL1 | c.884A>G (p.Asp295Gly) c.650A>G (p.Asp217Gly) c.526A>G c.605A>G (p.Asp202Gly) c.675A>G (p.Arg225=) c.-11+47108A>G (n.-11+47108A>G) c.740A>G (p.Asp247Gly) c.770A>G (p.Asp257Gly) c.533A>G (p.Asp178Gly) c.827A>G (p.Asp276Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50495410T>G | CA367538164 | DDC,FIGNL1 | c.884A>C (p.Asp295Ala) c.650A>C (p.Asp217Ala) c.526A>C c.605A>C (p.Asp202Ala) c.675A>C (p.Arg225Ser) c.-11+47108A>C (n.-11+47108A>C) c.740A>C (p.Asp247Ala) c.770A>C (p.Asp257Ala) c.533A>C (p.Asp178Ala) c.827A>C (p.Asp276Ala) | |
| 7 | g.50495410T= | CA1706635421 | DDC,FIGNL1 | c.884A= (p.Asp295=) c.650A= (p.Asp217=) c.526A= c.605A= (p.Asp202=) c.675A= (p.Arg225=) c.-11+47108A= (n.-11+47108A=) c.740A= (p.Asp247=) c.770A= (p.Asp257=) c.533A= (p.Asp178=) c.827A= (p.Asp276=) | |
| 7 | g.50495411C>A | CA367538165 | DDC,FIGNL1 | c.883G>T (p.Asp295Tyr) c.649G>T (p.Asp217Tyr) c.525G>T c.604G>T (p.Asp202Tyr) c.674G>T (p.Arg225Ile) c.-11+47107G>T (n.-11+47107G>T) c.739G>T (p.Asp247Tyr) c.769G>T (p.Asp257Tyr) c.532G>T (p.Asp178Tyr) c.826G>T (p.Asp276Tyr) | |
| 7 | g.50495411C>G | CA367538166 | DDC,FIGNL1 | c.883G>C (p.Asp295His) c.649G>C (p.Asp217His) c.525G>C c.604G>C (p.Asp202His) c.674G>C (p.Arg225Thr) c.-11+47107G>C (n.-11+47107G>C) c.739G>C (p.Asp247His) c.769G>C (p.Asp257His) c.532G>C (p.Asp178His) c.826G>C (p.Asp276His) | |
| 7 | g.50495411C>T | CA367538167 | DDC,FIGNL1 | c.883G>A (p.Asp295Asn) c.649G>A (p.Asp217Asn) c.525G>A c.604G>A (p.Asp202Asn) c.674G>A (p.Arg225Lys) c.-11+47107G>A (n.-11+47107G>A) c.739G>A (p.Asp247Asn) c.769G>A (p.Asp257Asn) c.532G>A (p.Asp178Asn) c.826G>A (p.Asp276Asn) | |
| 7 | g.50495412T>A | CA454935069 | DDC,FIGNL1 | c.882A>T (p.Ala294=) c.648A>T (p.Ala216=) c.524A>T c.603A>T (p.Ala201=) c.673A>T (p.Arg225Ter) c.-11+47106A>T (n.-11+47106A>T) c.738A>T (p.Ala246=) c.768A>T (p.Ala256=) c.531A>T (p.Ala177=) c.825A>T (p.Ala275=) | |
| 7 | g.50495412T>C | CA454935070 | DDC,FIGNL1 | c.882A>G (p.Ala294=) c.648A>G (p.Ala216=) c.524A>G c.603A>G (p.Ala201=) c.673A>G (p.Arg225Gly) c.-11+47106A>G (n.-11+47106A>G) c.738A>G (p.Ala246=) c.768A>G (p.Ala256=) c.531A>G (p.Ala177=) c.825A>G (p.Ala275=) | |
| 7 | g.50495412T>G | CA454935071 | DDC,FIGNL1 | c.882A>C (p.Ala294=) c.648A>C (p.Ala216=) c.524A>C c.603A>C (p.Ala201=) c.673A>C (p.Arg225=) c.-11+47106A>C (n.-11+47106A>C) c.738A>C (p.Ala246=) c.768A>C (p.Ala256=) c.531A>C (p.Ala177=) c.825A>C (p.Ala275=) | |
| 7 | g.50495413G>A | CA367538169 | DDC,FIGNL1 | c.881C>T (p.Ala294Val) c.647C>T (p.Ala216Val) c.523C>T c.602C>T (p.Ala201Val) c.672C>T (p.Cys224=) c.-11+47105C>T (n.-11+47105C>T) c.737C>T (p.Ala246Val) c.767C>T (p.Ala256Val) c.530C>T (p.Ala177Val) c.824C>T (p.Ala275Val) | gnomAD v4 COSMIC COSMIC |
| 7 | g.50495413G>C | CA367538170 | DDC,FIGNL1 | c.881C>G (p.Ala294Gly) c.647C>G (p.Ala216Gly) c.523C>G c.602C>G (p.Ala201Gly) c.672C>G (p.Cys224Trp) c.-11+47105C>G (n.-11+47105C>G) c.737C>G (p.Ala246Gly) c.767C>G (p.Ala256Gly) c.530C>G (p.Ala177Gly) c.824C>G (p.Ala275Gly) | |
| 7 | g.50495413G>T | CA367538168 | DDC,FIGNL1 | c.881C>A (p.Ala294Glu) c.647C>A (p.Ala216Glu) c.523C>A c.602C>A (p.Ala201Glu) c.672C>A (p.Cys224Ter) c.-11+47105C>A (n.-11+47105C>A) c.737C>A (p.Ala246Glu) c.767C>A (p.Ala256Glu) c.530C>A (p.Ala177Glu) c.824C>A (p.Ala275Glu) | |
| 7 | g.50495414C>A | CA367538172 | DDC,FIGNL1 | c.880G>T (p.Ala294Ser) c.646G>T (p.Ala216Ser) c.522G>T c.601G>T (p.Ala201Ser) c.671G>T (p.Cys224Phe) c.-11+47104G>T (n.-11+47104G>T) c.736G>T (p.Ala246Ser) c.766G>T (p.Ala256Ser) c.529G>T (p.Ala177Ser) c.823G>T (p.Ala275Ser) | gnomAD v4 |
| 7 | g.50495414C>G | CA367538171 | DDC,FIGNL1 | c.880G>C (p.Ala294Pro) c.646G>C (p.Ala216Pro) c.522G>C c.601G>C (p.Ala201Pro) c.671G>C (p.Cys224Ser) c.-11+47104G>C (n.-11+47104G>C) c.736G>C (p.Ala246Pro) c.766G>C (p.Ala256Pro) c.529G>C (p.Ala177Pro) c.823G>C (p.Ala275Pro) | |
| 7 | g.50495414C>T | CA367538173 | DDC,FIGNL1 | c.880G>A (p.Ala294Thr) c.646G>A (p.Ala216Thr) c.522G>A c.601G>A (p.Ala201Thr) c.671G>A (p.Cys224Tyr) c.-11+47104G>A (n.-11+47104G>A) c.736G>A (p.Ala246Thr) c.766G>A (p.Ala256Thr) c.529G>A (p.Ala177Thr) c.823G>A (p.Ala275Thr) | |
| 7 | g.50495415A>C | CA367538174 | DDC,FIGNL1 | c.879T>G (p.Phe293Leu) c.645T>G (p.Phe215Leu) c.521T>G c.600T>G (p.Phe200Leu) c.670T>G (p.Cys224Gly) c.-11+47103T>G (n.-11+47103T>G) c.735T>G (p.Phe245Leu) c.765T>G (p.Phe255Leu) c.528T>G (p.Phe176Leu) c.822T>G (p.Phe274Leu) | |
| 7 | g.50495415A>G | CA454935082 | DDC,FIGNL1 | c.879T>C (p.Phe293=) c.645T>C (p.Phe215=) c.521T>C c.600T>C (p.Phe200=) c.670T>C (p.Cys224Arg) c.-11+47103T>C (n.-11+47103T>C) c.735T>C (p.Phe245=) c.765T>C (p.Phe255=) c.528T>C (p.Phe176=) c.822T>C (p.Phe274=) | |
| 7 | g.50495415A>T | CA367538175 | DDC,FIGNL1 | c.879T>A (p.Phe293Leu) c.645T>A (p.Phe215Leu) c.521T>A c.600T>A (p.Phe200Leu) c.670T>A (p.Cys224Ser) c.-11+47103T>A (n.-11+47103T>A) c.735T>A (p.Phe245Leu) c.765T>A (p.Phe255Leu) c.528T>A (p.Phe176Leu) c.822T>A (p.Phe274Leu) | |
| 7 | g.50495416A>C | CA367538176 | DDC,FIGNL1 | c.878T>G (p.Phe293Cys) c.644T>G (p.Phe215Cys) c.520T>G c.599T>G (p.Phe200Cys) c.669T>G (p.Phe223Leu) c.-11+47102T>G (n.-11+47102T>G) c.734T>G (p.Phe245Cys) c.764T>G (p.Phe255Cys) c.527T>G (p.Phe176Cys) c.821T>G (p.Phe274Cys) | |
| 7 | g.50495416A>G | CA367538177 | DDC,FIGNL1 | c.878T>C (p.Phe293Ser) c.644T>C (p.Phe215Ser) c.520T>C c.599T>C (p.Phe200Ser) c.669T>C (p.Phe223=) c.-11+47102T>C (n.-11+47102T>C) c.734T>C (p.Phe245Ser) c.764T>C (p.Phe255Ser) c.527T>C (p.Phe176Ser) c.821T>C (p.Phe274Ser) | |
| 7 | g.50495416A>T | CA367538178 | DDC,FIGNL1 | c.878T>A (p.Phe293Tyr) c.644T>A (p.Phe215Tyr) c.520T>A c.599T>A (p.Phe200Tyr) c.669T>A (p.Phe223Leu) c.-11+47102T>A (n.-11+47102T>A) c.734T>A (p.Phe245Tyr) c.764T>A (p.Phe255Tyr) c.527T>A (p.Phe176Tyr) c.821T>A (p.Phe274Tyr) | |
| 7 | g.50495417A>C | CA367538179 | DDC,FIGNL1 | c.877T>G (p.Phe293Val) c.643T>G (p.Phe215Val) c.519T>G c.598T>G (p.Phe200Val) c.668T>G (p.Phe223Cys) c.-11+47101T>G (n.-11+47101T>G) c.733T>G (p.Phe245Val) c.763T>G (p.Phe255Val) c.526T>G (p.Phe176Val) c.820T>G (p.Phe274Val) | |
| 7 | g.50495417A>G | CA367538180 | DDC,FIGNL1 | c.877T>C (p.Phe293Leu) c.643T>C (p.Phe215Leu) c.519T>C c.598T>C (p.Phe200Leu) c.668T>C (p.Phe223Ser) c.-11+47101T>C (n.-11+47101T>C) c.733T>C (p.Phe245Leu) c.763T>C (p.Phe255Leu) c.526T>C (p.Phe176Leu) c.820T>C (p.Phe274Leu) | |
| 7 | g.50495417A>T | CA367538181 | DDC,FIGNL1 | c.877T>A (p.Phe293Ile) c.643T>A (p.Phe215Ile) c.519T>A c.598T>A (p.Phe200Ile) c.668T>A (p.Phe223Tyr) c.-11+47101T>A (n.-11+47101T>A) c.733T>A (p.Phe245Ile) c.763T>A (p.Phe255Ile) c.526T>A (p.Phe176Ile) c.820T>A (p.Phe274Ile) | |
| 7 | g.50495418C>A | CA367538182 | DDC,FIGNL1 | c.877-1G>T (n.877-1G>T) c.643-1G>T (n.643-1G>T) c.519-1G>T c.598-1G>T (n.598-1G>T) c.668-1G>T (n.668-1G>T) c.-11+47100G>T (n.-11+47100G>T) c.733-1G>T (n.733-1G>T) c.763-1G>T (n.763-1G>T) c.526-1G>T (n.526-1G>T) c.820-1G>T (n.820-1G>T) | |
| 7 | g.50495418C>G | CA367538183 | DDC,FIGNL1 | c.877-1G>C (n.877-1G>C) c.643-1G>C (n.643-1G>C) c.519-1G>C c.598-1G>C (n.598-1G>C) c.668-1G>C (n.668-1G>C) c.-11+47100G>C (n.-11+47100G>C) c.733-1G>C (n.733-1G>C) c.763-1G>C (n.763-1G>C) c.526-1G>C (n.526-1G>C) c.820-1G>C (n.820-1G>C) | |
| 7 | g.50495418C>T | CA367538184 | DDC,FIGNL1 | c.877-1G>A (n.877-1G>A) c.643-1G>A (n.643-1G>A) c.519-1G>A c.598-1G>A (n.598-1G>A) c.668-1G>A (n.668-1G>A) c.-11+47100G>A (n.-11+47100G>A) c.733-1G>A (n.733-1G>A) c.763-1G>A (n.763-1G>A) c.526-1G>A (n.526-1G>A) c.820-1G>A (n.820-1G>A) | gnomAD v4 |
| 7 | g.50495419T>A | CA367538185 | DDC,FIGNL1 | c.877-2A>T (n.877-2A>T) c.643-2A>T (n.643-2A>T) c.519-2A>T c.598-2A>T (n.598-2A>T) c.668-2A>T (n.668-2A>T) c.-11+47099A>T (n.-11+47099A>T) c.733-2A>T (n.733-2A>T) c.763-2A>T (n.763-2A>T) c.526-2A>T (n.526-2A>T) c.820-2A>T (n.820-2A>T) | COSMIC COSMIC |
| 7 | g.50495419T>C | CA367538186 | DDC,FIGNL1 | c.877-2A>G (n.877-2A>G) c.643-2A>G (n.643-2A>G) c.519-2A>G c.598-2A>G (n.598-2A>G) c.668-2A>G (n.668-2A>G) c.-11+47099A>G (n.-11+47099A>G) c.733-2A>G (n.733-2A>G) c.763-2A>G (n.763-2A>G) c.526-2A>G (n.526-2A>G) c.820-2A>G (n.820-2A>G) | |
| 7 | g.50495419T>G | CA367538187 | DDC,FIGNL1 | c.877-2A>C (n.877-2A>C) c.643-2A>C (n.643-2A>C) c.519-2A>C c.598-2A>C (n.598-2A>C) c.668-2A>C (n.668-2A>C) c.-11+47099A>C (n.-11+47099A>C) c.733-2A>C (n.733-2A>C) c.763-2A>C (n.763-2A>C) c.526-2A>C (n.526-2A>C) c.820-2A>C (n.820-2A>C) | |
| 7 | g.50495420G>A | CA2682812155 | DDC,FIGNL1 | c.877-3C>T (n.877-3C>T) c.643-3C>T (n.643-3C>T) c.519-3C>T c.598-3C>T (n.598-3C>T) c.668-3C>T (n.668-3C>T) c.-11+47098C>T (n.-11+47098C>T) c.733-3C>T (n.733-3C>T) c.763-3C>T (n.763-3C>T) c.526-3C>T (n.526-3C>T) c.820-3C>T (n.820-3C>T) | gnomAD v4 |
| 7 | g.50495420G>T | CA2682812156 | DDC,FIGNL1 | c.877-3C>A (n.877-3C>A) c.643-3C>A (n.643-3C>A) c.519-3C>A c.598-3C>A (n.598-3C>A) c.668-3C>A (n.668-3C>A) c.-11+47098C>A (n.-11+47098C>A) c.733-3C>A (n.733-3C>A) c.763-3C>A (n.763-3C>A) c.526-3C>A (n.526-3C>A) c.820-3C>A (n.820-3C>A) | gnomAD v4 |
| 7 | g.50495421C>A | CA574301277 | DDC,FIGNL1 | c.877-4G>T (n.877-4G>T) c.643-4G>T (n.643-4G>T) c.519-4G>T c.598-4G>T (n.598-4G>T) c.668-4G>T (n.668-4G>T) c.-11+47097G>T (n.-11+47097G>T) c.733-4G>T (n.733-4G>T) c.763-4G>T (n.763-4G>T) c.526-4G>T (n.526-4G>T) c.820-4G>T (n.820-4G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.50495421C= | CA1706635422 | DDC,FIGNL1 | c.877-4G= (n.877-4G=) c.643-4G= (n.643-4G=) c.519-4G= c.598-4G= (n.598-4G=) c.668-4G= (n.668-4G=) c.-11+47097G= (n.-11+47097G=) c.733-4G= (n.733-4G=) c.763-4G= (n.763-4G=) c.526-4G= (n.526-4G=) c.820-4G= (n.820-4G=) | |
| 7 | g.50495421C>G | CA4262207 | DDC,FIGNL1 | c.877-4G>C (n.877-4G>C) c.643-4G>C (n.643-4G>C) c.519-4G>C c.598-4G>C (n.598-4G>C) c.668-4G>C (n.668-4G>C) c.-11+47097G>C (n.-11+47097G>C) c.733-4G>C (n.733-4G>C) c.763-4G>C (n.763-4G>C) c.526-4G>C (n.526-4G>C) c.820-4G>C (n.820-4G>C) | dbSNP ExAC gnomAD v2 |
| 7 | g.50495421C>T | CA2682812157 | DDC,FIGNL1 | c.877-4G>A (n.877-4G>A) c.643-4G>A (n.643-4G>A) c.519-4G>A c.598-4G>A (n.598-4G>A) c.668-4G>A (n.668-4G>A) c.-11+47097G>A (n.-11+47097G>A) c.733-4G>A (n.733-4G>A) c.763-4G>A (n.763-4G>A) c.526-4G>A (n.526-4G>A) c.820-4G>A (n.820-4G>A) | gnomAD v4 |
| 7 | g.50495426G>A | CA2682812158 | DDC,FIGNL1 | c.877-9C>T (n.877-9C>T) c.643-9C>T (n.643-9C>T) c.519-9C>T c.598-9C>T (n.598-9C>T) c.668-9C>T (n.668-9C>T) c.-11+47092C>T (n.-11+47092C>T) c.733-9C>T (n.733-9C>T) c.763-9C>T (n.763-9C>T) c.526-9C>T (n.526-9C>T) c.820-9C>T (n.820-9C>T) | gnomAD v4 |
| 7 | g.50495426G= | CA1706635423 | DDC,FIGNL1 | c.877-9C= (n.877-9C=) c.643-9C= (n.643-9C=) c.519-9C= c.598-9C= (n.598-9C=) c.668-9C= (n.668-9C=) c.-11+47092C= (n.-11+47092C=) c.733-9C= (n.733-9C=) c.763-9C= (n.763-9C=) c.526-9C= (n.526-9C=) c.820-9C= (n.820-9C=) | |
| 7 | g.50495426G>T | CA1101208668 | DDC,FIGNL1 | c.877-9C>A (n.877-9C>A) c.643-9C>A (n.643-9C>A) c.519-9C>A c.598-9C>A (n.598-9C>A) c.668-9C>A (n.668-9C>A) c.-11+47092C>A (n.-11+47092C>A) c.733-9C>A (n.733-9C>A) c.763-9C>A (n.763-9C>A) c.526-9C>A (n.526-9C>A) c.820-9C>A (n.820-9C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50495427A>C | CA2573142181 | DDC,FIGNL1 | c.877-10T>G (n.877-10T>G) c.643-10T>G (n.643-10T>G) c.519-10T>G c.598-10T>G (n.598-10T>G) c.668-10T>G (n.668-10T>G) c.-11+47091T>G (n.-11+47091T>G) c.733-10T>G (n.733-10T>G) c.763-10T>G (n.763-10T>G) c.526-10T>G (n.526-10T>G) c.820-10T>G (n.820-10T>G) | ClinVar dbSNP |
| 7 | g.50495427A>G | CA2682812159 | DDC,FIGNL1 | c.877-10T>C (n.877-10T>C) c.643-10T>C (n.643-10T>C) c.519-10T>C c.598-10T>C (n.598-10T>C) c.668-10T>C (n.668-10T>C) c.-11+47091T>C (n.-11+47091T>C) c.733-10T>C (n.733-10T>C) c.763-10T>C (n.763-10T>C) c.526-10T>C (n.526-10T>C) c.820-10T>C (n.820-10T>C) | gnomAD v4 |
| 7 | g.50495427A>T | CA2682812160 | DDC,FIGNL1 | c.877-10T>A (n.877-10T>A) c.643-10T>A (n.643-10T>A) c.519-10T>A c.598-10T>A (n.598-10T>A) c.668-10T>A (n.668-10T>A) c.-11+47091T>A (n.-11+47091T>A) c.733-10T>A (n.733-10T>A) c.763-10T>A (n.763-10T>A) c.526-10T>A (n.526-10T>A) c.820-10T>A (n.820-10T>A) | gnomAD v4 |
| 7 | g.50495429C>A | CA2682812161 | DDC,FIGNL1 | c.877-12G>T (n.877-12G>T) c.643-12G>T (n.643-12G>T) c.519-12G>T c.598-12G>T (n.598-12G>T) c.668-12G>T (n.668-12G>T) c.-11+47089G>T (n.-11+47089G>T) c.733-12G>T (n.733-12G>T) c.763-12G>T (n.763-12G>T) c.526-12G>T (n.526-12G>T) c.820-12G>T (n.820-12G>T) | ClinVar gnomAD v4 |
| 7 | g.50495430A>G | CA2580077270 | DDC,FIGNL1 | c.877-13T>C (n.877-13T>C) c.643-13T>C (n.643-13T>C) c.519-13T>C c.598-13T>C (n.598-13T>C) c.668-13T>C (n.668-13T>C) c.-11+47088T>C (n.-11+47088T>C) c.733-13T>C (n.733-13T>C) c.763-13T>C (n.763-13T>C) c.526-13T>C (n.526-13T>C) c.820-13T>C (n.820-13T>C) | ClinVar |
| 7 | g.50495430_50495431del | CA2578891476 | DDC,FIGNL1 | c.877-14_877-13del (n.877-14_877-13del) c.643-14_643-13del (n.643-14_643-13del) c.519-14_519-13del c.598-14_598-13del (n.598-14_598-13del) c.668-14_668-13del (n.668-14_668-13del) c.-11+47087_-11+47088del (n.-11+47087_-11+47088del) c.733-14_733-13del (n.733-14_733-13del) c.763-14_763-13del (n.763-14_763-13del) c.526-14_526-13del (n.526-14_526-13del) c.820-14_820-13del (n.820-14_820-13del) | gnomAD v4 |
| 7 | g.50495432G>A | CA158228928 | DDC,FIGNL1 | c.877-15C>T (n.877-15C>T) c.643-15C>T (n.643-15C>T) c.519-15C>T c.598-15C>T (n.598-15C>T) c.668-15C>T (n.668-15C>T) c.-11+47086C>T (n.-11+47086C>T) c.733-15C>T (n.733-15C>T) c.763-15C>T (n.763-15C>T) c.526-15C>T (n.526-15C>T) c.820-15C>T (n.820-15C>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.50495432G= | CA1706635424 | DDC,FIGNL1 | c.877-15C= (n.877-15C=) c.643-15C= (n.643-15C=) c.519-15C= c.598-15C= (n.598-15C=) c.668-15C= (n.668-15C=) c.-11+47086C= (n.-11+47086C=) c.733-15C= (n.733-15C=) c.763-15C= (n.763-15C=) c.526-15C= (n.526-15C=) c.820-15C= (n.820-15C=) | |
| 7 | g.50495432G>T | CA2682812162 | DDC,FIGNL1 | c.877-15C>A (n.877-15C>A) c.643-15C>A (n.643-15C>A) c.519-15C>A c.598-15C>A (n.598-15C>A) c.668-15C>A (n.668-15C>A) c.-11+47086C>A (n.-11+47086C>A) c.733-15C>A (n.733-15C>A) c.763-15C>A (n.763-15C>A) c.526-15C>A (n.526-15C>A) c.820-15C>A (n.820-15C>A) | gnomAD v4 |
| 7 | g.50495433A>G | CA2682812163 | DDC,FIGNL1 | c.877-16T>C (n.877-16T>C) c.643-16T>C (n.643-16T>C) c.519-16T>C c.598-16T>C (n.598-16T>C) c.668-16T>C (n.668-16T>C) c.-11+47085T>C (n.-11+47085T>C) c.733-16T>C (n.733-16T>C) c.763-16T>C (n.763-16T>C) c.526-16T>C (n.526-16T>C) c.820-16T>C (n.820-16T>C) | gnomAD v4 |
| 7 | g.50495434G>A | CA2682812166 | DDC,FIGNL1 | c.877-17C>T (n.877-17C>T) c.643-17C>T (n.643-17C>T) c.519-17C>T c.598-17C>T (n.598-17C>T) c.668-17C>T (n.668-17C>T) c.-11+47084C>T (n.-11+47084C>T) c.733-17C>T (n.733-17C>T) c.763-17C>T (n.763-17C>T) c.526-17C>T (n.526-17C>T) c.820-17C>T (n.820-17C>T) | gnomAD v4 |
| 7 | g.50495434G>C | CA2682812165 | DDC,FIGNL1 | c.877-17C>G (n.877-17C>G) c.643-17C>G (n.643-17C>G) c.519-17C>G c.598-17C>G (n.598-17C>G) c.668-17C>G (n.668-17C>G) c.-11+47084C>G (n.-11+47084C>G) c.733-17C>G (n.733-17C>G) c.763-17C>G (n.763-17C>G) c.526-17C>G (n.526-17C>G) c.820-17C>G (n.820-17C>G) | gnomAD v4 |
| 7 | g.50495434G>T | CA2682812164 | DDC,FIGNL1 | c.877-17C>A (n.877-17C>A) c.643-17C>A (n.643-17C>A) c.519-17C>A c.598-17C>A (n.598-17C>A) c.668-17C>A (n.668-17C>A) c.-11+47084C>A (n.-11+47084C>A) c.733-17C>A (n.733-17C>A) c.763-17C>A (n.763-17C>A) c.526-17C>A (n.526-17C>A) c.820-17C>A (n.820-17C>A) | gnomAD v4 |
| 7 | g.50495435T>A | CA2682812167 | DDC,FIGNL1 | c.877-18A>T (n.877-18A>T) c.643-18A>T (n.643-18A>T) c.519-18A>T c.598-18A>T (n.598-18A>T) c.668-18A>T (n.668-18A>T) c.-11+47083A>T (n.-11+47083A>T) c.733-18A>T (n.733-18A>T) c.763-18A>T (n.763-18A>T) c.526-18A>T (n.526-18A>T) c.820-18A>T (n.820-18A>T) | gnomAD v4 |
| 7 | g.50495435T>C | CA2682812168 | DDC,FIGNL1 | c.877-18A>G (n.877-18A>G) c.643-18A>G (n.643-18A>G) c.519-18A>G c.598-18A>G (n.598-18A>G) c.668-18A>G (n.668-18A>G) c.-11+47083A>G (n.-11+47083A>G) c.733-18A>G (n.733-18A>G) c.763-18A>G (n.763-18A>G) c.526-18A>G (n.526-18A>G) c.820-18A>G (n.820-18A>G) | gnomAD v4 |
| 7 | g.50495435T>G | CA1706635426 | DDC,FIGNL1 | c.877-18A>C (n.877-18A>C) c.643-18A>C (n.643-18A>C) c.519-18A>C c.598-18A>C (n.598-18A>C) c.668-18A>C (n.668-18A>C) c.-11+47083A>C (n.-11+47083A>C) c.733-18A>C (n.733-18A>C) c.763-18A>C (n.763-18A>C) c.526-18A>C (n.526-18A>C) c.820-18A>C (n.820-18A>C) | dbSNP |
| 7 | g.50495435T= | CA1706635425 | DDC,FIGNL1 | c.877-18A= (n.877-18A=) c.643-18A= (n.643-18A=) c.519-18A= c.598-18A= (n.598-18A=) c.668-18A= (n.668-18A=) c.-11+47083A= (n.-11+47083A=) c.733-18A= (n.733-18A=) c.763-18A= (n.763-18A=) c.526-18A= (n.526-18A=) c.820-18A= (n.820-18A=) | |
| 7 | g.50495436A= | CA1706635427 | DDC,FIGNL1 | c.877-19T= (n.877-19T=) c.643-19T= (n.643-19T=) c.519-19T= c.598-19T= (n.598-19T=) c.668-19T= (n.668-19T=) c.-11+47082T= (n.-11+47082T=) c.733-19T= (n.733-19T=) c.763-19T= (n.763-19T=) c.526-19T= (n.526-19T=) c.820-19T= (n.820-19T=) | |
| 7 | g.50495436A>G | CA158228929 | DDC,FIGNL1 | c.877-19T>C (n.877-19T>C) c.643-19T>C (n.643-19T>C) c.519-19T>C c.598-19T>C (n.598-19T>C) c.668-19T>C (n.668-19T>C) c.-11+47082T>C (n.-11+47082T>C) c.733-19T>C (n.733-19T>C) c.763-19T>C (n.763-19T>C) c.526-19T>C (n.526-19T>C) c.820-19T>C (n.820-19T>C) | dbSNP gnomAD v4 |
| 7 | g.50495437del | CA2682812169 | DDC,FIGNL1 | c.877-19del (n.877-19del) c.643-19del (n.643-19del) c.519-19del c.598-19del (n.598-19del) c.668-19del (n.668-19del) c.-11+47082del (n.-11+47082del) c.733-19del (n.733-19del) c.763-19del (n.763-19del) c.526-19del (n.526-19del) c.820-19del (n.820-19del) | gnomAD v4 |
| 7 | g.50495437A>G | CA2682812170 | DDC,FIGNL1 | c.877-20T>C (n.877-20T>C) c.643-20T>C (n.643-20T>C) c.519-20T>C c.598-20T>C (n.598-20T>C) c.668-20T>C (n.668-20T>C) c.-11+47081T>C (n.-11+47081T>C) c.733-20T>C (n.733-20T>C) c.763-20T>C (n.763-20T>C) c.526-20T>C (n.526-20T>C) c.820-20T>C (n.820-20T>C) | gnomAD v4 |
| 7 | g.50495438G>A | CA2578891477 | DDC,FIGNL1 | c.877-21C>T (n.877-21C>T) c.643-21C>T (n.643-21C>T) c.519-21C>T c.598-21C>T (n.598-21C>T) c.668-21C>T (n.668-21C>T) c.-11+47080C>T (n.-11+47080C>T) c.733-21C>T (n.733-21C>T) c.763-21C>T (n.763-21C>T) c.526-21C>T (n.526-21C>T) c.820-21C>T (n.820-21C>T) | |
| 7 | g.50495438G= | CA1706635428 | DDC,FIGNL1 | c.877-21C= (n.877-21C=) c.643-21C= (n.643-21C=) c.519-21C= c.598-21C= (n.598-21C=) c.668-21C= (n.668-21C=) c.-11+47080C= (n.-11+47080C=) c.733-21C= (n.733-21C=) c.763-21C= (n.763-21C=) c.526-21C= (n.526-21C=) c.820-21C= (n.820-21C=) | |
| 7 | g.50495438G>T | CA158228930 | DDC,FIGNL1 | c.877-21C>A (n.877-21C>A) c.643-21C>A (n.643-21C>A) c.519-21C>A c.598-21C>A (n.598-21C>A) c.668-21C>A (n.668-21C>A) c.-11+47080C>A (n.-11+47080C>A) c.733-21C>A (n.733-21C>A) c.763-21C>A (n.763-21C>A) c.526-21C>A (n.526-21C>A) c.820-21C>A (n.820-21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495439A>G | CA2682812171 | DDC,FIGNL1 | c.877-22T>C (n.877-22T>C) c.643-22T>C (n.643-22T>C) c.519-22T>C c.598-22T>C (n.598-22T>C) c.668-22T>C (n.668-22T>C) c.-11+47079T>C (n.-11+47079T>C) c.733-22T>C (n.733-22T>C) c.763-22T>C (n.763-22T>C) c.526-22T>C (n.526-22T>C) c.820-22T>C (n.820-22T>C) | gnomAD v4 |
| 7 | g.50495439A>T | CA2682812172 | DDC,FIGNL1 | c.877-22T>A (n.877-22T>A) c.643-22T>A (n.643-22T>A) c.519-22T>A c.598-22T>A (n.598-22T>A) c.668-22T>A (n.668-22T>A) c.-11+47079T>A (n.-11+47079T>A) c.733-22T>A (n.733-22T>A) c.763-22T>A (n.763-22T>A) c.526-22T>A (n.526-22T>A) c.820-22T>A (n.820-22T>A) | gnomAD v4 |
| 7 | g.50495443A>C | CA2682812173 | DDC,FIGNL1 | c.877-26T>G (n.877-26T>G) c.643-26T>G (n.643-26T>G) c.519-26T>G c.598-26T>G (n.598-26T>G) c.668-26T>G (n.668-26T>G) c.-11+47075T>G (n.-11+47075T>G) c.733-26T>G (n.733-26T>G) c.763-26T>G (n.763-26T>G) c.526-26T>G (n.526-26T>G) c.820-26T>G (n.820-26T>G) | gnomAD v4 |
| 7 | g.50495443A>G | CA2682812174 | DDC,FIGNL1 | c.877-26T>C (n.877-26T>C) c.643-26T>C (n.643-26T>C) c.519-26T>C c.598-26T>C (n.598-26T>C) c.668-26T>C (n.668-26T>C) c.-11+47075T>C (n.-11+47075T>C) c.733-26T>C (n.733-26T>C) c.763-26T>C (n.763-26T>C) c.526-26T>C (n.526-26T>C) c.820-26T>C (n.820-26T>C) | gnomAD v4 |
| 7 | g.50495444G>A | CA2578891478 | DDC,FIGNL1 | c.877-27C>T (n.877-27C>T) c.643-27C>T (n.643-27C>T) c.519-27C>T c.598-27C>T (n.598-27C>T) c.668-27C>T (n.668-27C>T) c.-11+47074C>T (n.-11+47074C>T) c.733-27C>T (n.733-27C>T) c.763-27C>T (n.763-27C>T) c.526-27C>T (n.526-27C>T) c.820-27C>T (n.820-27C>T) | gnomAD v4 |
| 7 | g.50495445A= | CA1706635429 | DDC,FIGNL1 | c.877-28T= (n.877-28T=) c.643-28T= (n.643-28T=) c.519-28T= c.598-28T= (n.598-28T=) c.668-28T= (n.668-28T=) c.-11+47073T= (n.-11+47073T=) c.733-28T= (n.733-28T=) c.763-28T= (n.763-28T=) c.526-28T= (n.526-28T=) c.820-28T= (n.820-28T=) | |
| 7 | g.50495445A>C | CA2682812175 | DDC,FIGNL1 | c.877-28T>G (n.877-28T>G) c.643-28T>G (n.643-28T>G) c.519-28T>G c.598-28T>G (n.598-28T>G) c.668-28T>G (n.668-28T>G) c.-11+47073T>G (n.-11+47073T>G) c.733-28T>G (n.733-28T>G) c.763-28T>G (n.763-28T>G) c.526-28T>G (n.526-28T>G) c.820-28T>G (n.820-28T>G) | gnomAD v4 |
| 7 | g.50495445A>G | CA839369125 | DDC,FIGNL1 | c.877-28T>C (n.877-28T>C) c.643-28T>C (n.643-28T>C) c.519-28T>C c.598-28T>C (n.598-28T>C) c.668-28T>C (n.668-28T>C) c.-11+47073T>C (n.-11+47073T>C) c.733-28T>C (n.733-28T>C) c.763-28T>C (n.763-28T>C) c.526-28T>C (n.526-28T>C) c.820-28T>C (n.820-28T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50495445A>T | CA2578891479 | DDC,FIGNL1 | c.877-28T>A (n.877-28T>A) c.643-28T>A (n.643-28T>A) c.519-28T>A c.598-28T>A (n.598-28T>A) c.668-28T>A (n.668-28T>A) c.-11+47073T>A (n.-11+47073T>A) c.733-28T>A (n.733-28T>A) c.763-28T>A (n.763-28T>A) c.526-28T>A (n.526-28T>A) c.820-28T>A (n.820-28T>A) | |
| 7 | g.50495447_50495448del | CA2775392980 | DDC,FIGNL1 | c.877-29_877-28del (n.877-29_877-28del) c.643-29_643-28del (n.643-29_643-28del) c.519-29_519-28del c.598-29_598-28del (n.598-29_598-28del) c.668-29_668-28del (n.668-29_668-28del) c.-11+47072_-11+47073del (n.-11+47072_-11+47073del) c.733-29_733-28del (n.733-29_733-28del) c.763-29_763-28del (n.763-29_763-28del) c.526-29_526-28del (n.526-29_526-28del) c.820-29_820-28del (n.820-29_820-28del) | |
| 7 | g.50495446A= | CA1706635430 | DDC,FIGNL1 | c.877-29T= (n.877-29T=) c.643-29T= (n.643-29T=) c.519-29T= c.598-29T= (n.598-29T=) c.668-29T= (n.668-29T=) c.-11+47072T= (n.-11+47072T=) c.733-29T= (n.733-29T=) c.763-29T= (n.763-29T=) c.526-29T= (n.526-29T=) c.820-29T= (n.820-29T=) | |
| 7 | g.50495446A>G | CA839369126 | DDC,FIGNL1 | c.877-29T>C (n.877-29T>C) c.643-29T>C (n.643-29T>C) c.519-29T>C c.598-29T>C (n.598-29T>C) c.668-29T>C (n.668-29T>C) c.-11+47072T>C (n.-11+47072T>C) c.733-29T>C (n.733-29T>C) c.763-29T>C (n.763-29T>C) c.526-29T>C (n.526-29T>C) c.820-29T>C (n.820-29T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.50495449C>T | CA2578891480 | DDC,FIGNL1 | c.877-32G>A (n.877-32G>A) c.643-32G>A (n.643-32G>A) c.519-32G>A c.598-32G>A (n.598-32G>A) c.668-32G>A (n.668-32G>A) c.-11+47069G>A (n.-11+47069G>A) c.733-32G>A (n.733-32G>A) c.763-32G>A (n.763-32G>A) c.526-32G>A (n.526-32G>A) c.820-32G>A (n.820-32G>A) | gnomAD v4 |
| 7 | g.50495450A>G | CA2578891481 | DDC,FIGNL1 | c.877-33T>C (n.877-33T>C) c.643-33T>C (n.643-33T>C) c.519-33T>C c.598-33T>C (n.598-33T>C) c.668-33T>C (n.668-33T>C) c.-11+47068T>C (n.-11+47068T>C) c.733-33T>C (n.733-33T>C) c.763-33T>C (n.763-33T>C) c.526-33T>C (n.526-33T>C) c.820-33T>C (n.820-33T>C) | gnomAD v4 |
| 7 | g.50495450A>T | CA2682812176 | DDC,FIGNL1 | c.877-33T>A (n.877-33T>A) c.643-33T>A (n.643-33T>A) c.519-33T>A c.598-33T>A (n.598-33T>A) c.668-33T>A (n.668-33T>A) c.-11+47068T>A (n.-11+47068T>A) c.733-33T>A (n.733-33T>A) c.763-33T>A (n.763-33T>A) c.526-33T>A (n.526-33T>A) c.820-33T>A (n.820-33T>A) | gnomAD v4 |
| 7 | g.50495451T>C | CA2682812177 | DDC,FIGNL1 | c.877-34A>G (n.877-34A>G) c.643-34A>G (n.643-34A>G) c.519-34A>G c.598-34A>G (n.598-34A>G) c.668-34A>G (n.668-34A>G) c.-11+47067A>G (n.-11+47067A>G) c.733-34A>G (n.733-34A>G) c.763-34A>G (n.763-34A>G) c.526-34A>G (n.526-34A>G) c.820-34A>G (n.820-34A>G) | gnomAD v4 |
| 7 | g.50495451T>G | CA4262208 | DDC,FIGNL1 | c.877-34A>C (n.877-34A>C) c.643-34A>C (n.643-34A>C) c.519-34A>C c.598-34A>C (n.598-34A>C) c.668-34A>C (n.668-34A>C) c.-11+47067A>C (n.-11+47067A>C) c.733-34A>C (n.733-34A>C) c.763-34A>C (n.763-34A>C) c.526-34A>C (n.526-34A>C) c.820-34A>C (n.820-34A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.50495451T= | CA1706635431 | DDC,FIGNL1 | c.877-34A= (n.877-34A=) c.643-34A= (n.643-34A=) c.519-34A= c.598-34A= (n.598-34A=) c.668-34A= (n.668-34A=) c.-11+47067A= (n.-11+47067A=) c.733-34A= (n.733-34A=) c.763-34A= (n.763-34A=) c.526-34A= (n.526-34A=) c.820-34A= (n.820-34A=) | |
| 7 | g.50495454del | CA2682812178 | DDC,FIGNL1 | c.877-34del (n.877-34del) c.643-34del (n.643-34del) c.519-34del c.598-34del (n.598-34del) c.668-34del (n.668-34del) c.-11+47067del (n.-11+47067del) c.733-34del (n.733-34del) c.763-34del (n.763-34del) c.526-34del (n.526-34del) c.820-34del (n.820-34del) | gnomAD v4 |
| 7 | g.50495452T>C | CA2682812180 | DDC,FIGNL1 | c.877-35A>G (n.877-35A>G) c.643-35A>G (n.643-35A>G) c.519-35A>G c.598-35A>G (n.598-35A>G) c.668-35A>G (n.668-35A>G) c.-11+47066A>G (n.-11+47066A>G) c.733-35A>G (n.733-35A>G) c.763-35A>G (n.763-35A>G) c.526-35A>G (n.526-35A>G) c.820-35A>G (n.820-35A>G) | gnomAD v4 |
| 7 | g.50495454_50495472del | CA2682812179 | DDC,FIGNL1 | c.877-53_877-35del (n.877-53_877-35del) c.643-53_643-35del (n.643-53_643-35del) c.519-53_519-35del c.598-53_598-35del (n.598-53_598-35del) c.668-53_668-35del (n.668-53_668-35del) c.-11+47048_-11+47066del (n.-11+47048_-11+47066del) c.733-53_733-35del (n.733-53_733-35del) c.763-53_763-35del (n.763-53_763-35del) c.526-53_526-35del (n.526-53_526-35del) c.820-53_820-35del (n.820-53_820-35del) | gnomAD v4 |
| 7 | g.50495455C>A | CA4262209 | DDC,FIGNL1 | c.877-38G>T (n.877-38G>T) c.643-38G>T (n.643-38G>T) c.519-38G>T c.598-38G>T (n.598-38G>T) c.668-38G>T (n.668-38G>T) c.-11+47063G>T (n.-11+47063G>T) c.733-38G>T (n.733-38G>T) c.763-38G>T (n.763-38G>T) c.526-38G>T (n.526-38G>T) c.820-38G>T (n.820-38G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495455C= | CA1706635432 | DDC,FIGNL1 | c.877-38G= (n.877-38G=) c.643-38G= (n.643-38G=) c.519-38G= c.598-38G= (n.598-38G=) c.668-38G= (n.668-38G=) c.-11+47063G= (n.-11+47063G=) c.733-38G= (n.733-38G=) c.763-38G= (n.763-38G=) c.526-38G= (n.526-38G=) c.820-38G= (n.820-38G=) | |
| 7 | g.50495456T>A | CA4262210 | DDC,FIGNL1 | c.877-39A>T (n.877-39A>T) c.643-39A>T (n.643-39A>T) c.519-39A>T c.598-39A>T (n.598-39A>T) c.668-39A>T (n.668-39A>T) c.-11+47062A>T (n.-11+47062A>T) c.733-39A>T (n.733-39A>T) c.763-39A>T (n.763-39A>T) c.526-39A>T (n.526-39A>T) c.820-39A>T (n.820-39A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495456T= | CA1706635433 | DDC,FIGNL1 | c.877-39A= (n.877-39A=) c.643-39A= (n.643-39A=) c.519-39A= c.598-39A= (n.598-39A=) c.668-39A= (n.668-39A=) c.-11+47062A= (n.-11+47062A=) c.733-39A= (n.733-39A=) c.763-39A= (n.763-39A=) c.526-39A= (n.526-39A=) c.820-39A= (n.820-39A=) | |
| 7 | g.50495459A>C | CA913186117 | DDC,FIGNL1 | c.877-42T>G (n.877-42T>G) c.643-42T>G (n.643-42T>G) c.519-42T>G c.598-42T>G (n.598-42T>G) c.668-42T>G (n.668-42T>G) c.-11+47059T>G (n.-11+47059T>G) c.733-42T>G (n.733-42T>G) c.763-42T>G (n.763-42T>G) c.526-42T>G (n.526-42T>G) c.820-42T>G (n.820-42T>G) | gnomAD v4 |
| 7 | g.50495459A>T | CA2578891482 | DDC,FIGNL1 | c.877-42T>A (n.877-42T>A) c.643-42T>A (n.643-42T>A) c.519-42T>A c.598-42T>A (n.598-42T>A) c.668-42T>A (n.668-42T>A) c.-11+47059T>A (n.-11+47059T>A) c.733-42T>A (n.733-42T>A) c.763-42T>A (n.763-42T>A) c.526-42T>A (n.526-42T>A) c.820-42T>A (n.820-42T>A) | |
| 7 | g.50495460T>C | CA158228931 | DDC,FIGNL1 | c.877-43A>G (n.877-43A>G) c.643-43A>G (n.643-43A>G) c.519-43A>G c.598-43A>G (n.598-43A>G) c.668-43A>G (n.668-43A>G) c.-11+47058A>G (n.-11+47058A>G) c.733-43A>G (n.733-43A>G) c.763-43A>G (n.763-43A>G) c.526-43A>G (n.526-43A>G) c.820-43A>G (n.820-43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.50495460T= | CA1706635434 | DDC,FIGNL1 | c.877-43A= (n.877-43A=) c.643-43A= (n.643-43A=) c.519-43A= c.598-43A= (n.598-43A=) c.668-43A= (n.668-43A=) c.-11+47058A= (n.-11+47058A=) c.733-43A= (n.733-43A=) c.763-43A= (n.763-43A=) c.526-43A= (n.526-43A=) c.820-43A= (n.820-43A=) | |
| 7 | g.50495463_50495466del | CA2578891483 | DDC,FIGNL1 | c.877-49_877-46del (n.877-49_877-46del) c.643-49_643-46del (n.643-49_643-46del) c.519-49_519-46del c.598-49_598-46del (n.598-49_598-46del) c.668-49_668-46del (n.668-49_668-46del) c.-11+47052_-11+47055del (n.-11+47052_-11+47055del) c.733-49_733-46del (n.733-49_733-46del) c.763-49_763-46del (n.763-49_763-46del) c.526-49_526-46del (n.526-49_526-46del) c.820-49_820-46del (n.820-49_820-46del) | gnomAD v4 |
| 7 | g.50495465G>A | CA2682812181 | DDC,FIGNL1 | c.877-48C>T (n.877-48C>T) c.643-48C>T (n.643-48C>T) c.519-48C>T c.598-48C>T (n.598-48C>T) c.668-48C>T (n.668-48C>T) c.-11+47053C>T (n.-11+47053C>T) c.733-48C>T (n.733-48C>T) c.763-48C>T (n.763-48C>T) c.526-48C>T (n.526-48C>T) c.820-48C>T (n.820-48C>T) | gnomAD v4 |
| 7 | g.50495465G>T | CA2525113762 | DDC,FIGNL1 | c.877-48C>A (n.877-48C>A) c.643-48C>A (n.643-48C>A) c.519-48C>A c.598-48C>A (n.598-48C>A) c.668-48C>A (n.668-48C>A) c.-11+47053C>A (n.-11+47053C>A) c.733-48C>A (n.733-48C>A) c.763-48C>A (n.763-48C>A) c.526-48C>A (n.526-48C>A) c.820-48C>A (n.820-48C>A) | gnomAD v4 |
| 7 | g.50495466T>A | CA2682812182 | DDC,FIGNL1 | c.877-49A>T (n.877-49A>T) c.643-49A>T (n.643-49A>T) c.519-49A>T c.598-49A>T (n.598-49A>T) c.668-49A>T (n.668-49A>T) c.-11+47052A>T (n.-11+47052A>T) c.733-49A>T (n.733-49A>T) c.763-49A>T (n.763-49A>T) c.526-49A>T (n.526-49A>T) c.820-49A>T (n.820-49A>T) | gnomAD v4 |
| 7 | g.50495466T>C | CA2682812183 | DDC,FIGNL1 | c.877-49A>G (n.877-49A>G) c.643-49A>G (n.643-49A>G) c.519-49A>G c.598-49A>G (n.598-49A>G) c.668-49A>G (n.668-49A>G) c.-11+47052A>G (n.-11+47052A>G) c.733-49A>G (n.733-49A>G) c.763-49A>G (n.763-49A>G) c.526-49A>G (n.526-49A>G) c.820-49A>G (n.820-49A>G) | gnomAD v4 |