Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.50529233T>A | CA367526653 | DDC,FIGNL1 | c.545A>T (p.Lys182Met) c.311A>T (p.Lys104Met) c.213-953A>T c.435+8627A>T (n.435+8627A>T) c.431A>T (p.Lys144Met) n.344A>T c.-11+13285A>T (n.-11+13285A>T) c.194A>T (p.Lys65Met) c.488A>T (p.Lys163Met) | |
7 | g.50529233T>C | CA367526652 | DDC,FIGNL1 | c.545A>G (p.Lys182Arg) c.311A>G (p.Lys104Arg) c.213-953A>G c.435+8627A>G (n.435+8627A>G) c.431A>G (p.Lys144Arg) n.344A>G c.-11+13285A>G (n.-11+13285A>G) c.194A>G (p.Lys65Arg) c.488A>G (p.Lys163Arg) | |
7 | g.50529233T>G | CA367526651 | DDC,FIGNL1 | c.545A>C (p.Lys182Thr) c.311A>C (p.Lys104Thr) c.213-953A>C c.435+8627A>C (n.435+8627A>C) c.431A>C (p.Lys144Thr) n.344A>C c.-11+13285A>C (n.-11+13285A>C) c.194A>C (p.Lys65Thr) c.488A>C (p.Lys163Thr) | |
7 | g.50529234T>A | CA367526654 | DDC,FIGNL1 | c.544A>T (p.Lys182Ter) c.310A>T (p.Lys104Ter) c.213-954A>T c.435+8626A>T (n.435+8626A>T) c.430A>T (p.Lys144Ter) n.343A>T c.-11+13284A>T (n.-11+13284A>T) c.193A>T (p.Lys65Ter) c.487A>T (p.Lys163Ter) | |
7 | g.50529234T>C | CA367526655 | DDC,FIGNL1 | c.544A>G (p.Lys182Glu) c.310A>G (p.Lys104Glu) c.213-954A>G c.435+8626A>G (n.435+8626A>G) c.430A>G (p.Lys144Glu) n.343A>G c.-11+13284A>G (n.-11+13284A>G) c.193A>G (p.Lys65Glu) c.487A>G (p.Lys163Glu) | |
7 | g.50529234T>G | CA367526656 | DDC,FIGNL1 | c.544A>C (p.Lys182Gln) c.310A>C (p.Lys104Gln) c.213-954A>C c.435+8626A>C (n.435+8626A>C) c.430A>C (p.Lys144Gln) n.343A>C c.-11+13284A>C (n.-11+13284A>C) c.193A>C (p.Lys65Gln) c.487A>C (p.Lys163Gln) | |
7 | g.50529235C>A | CA367526657 | DDC,FIGNL1 | c.543G>T (p.Glu181Asp) c.309G>T (p.Glu103Asp) c.213-955G>T c.435+8625G>T (n.435+8625G>T) c.429G>T (p.Glu143Asp) n.342G>T c.-11+13283G>T (n.-11+13283G>T) c.192G>T (p.Glu64Asp) c.486G>T (p.Glu162Asp) | |
7 | g.50529235C>G | CA367526658 | DDC,FIGNL1 | c.543G>C (p.Glu181Asp) c.309G>C (p.Glu103Asp) c.213-955G>C c.435+8625G>C (n.435+8625G>C) c.429G>C (p.Glu143Asp) n.342G>C c.-11+13283G>C (n.-11+13283G>C) c.192G>C (p.Glu64Asp) c.486G>C (p.Glu162Asp) | |
7 | g.50529235C>T | CA454937503 | DDC,FIGNL1 | c.543G>A (p.Glu181=) c.309G>A (p.Glu103=) c.213-955G>A c.435+8625G>A (n.435+8625G>A) c.429G>A (p.Glu143=) n.342G>A c.-11+13283G>A (n.-11+13283G>A) c.192G>A (p.Glu64=) c.486G>A (p.Glu162=) | COSMIC COSMIC |
7 | g.50529236T>A | CA367526659 | DDC,FIGNL1 | c.542A>T (p.Glu181Val) c.308A>T (p.Glu103Val) c.213-956A>T c.435+8624A>T (n.435+8624A>T) c.428A>T (p.Glu143Val) n.341A>T c.-11+13282A>T (n.-11+13282A>T) c.191A>T (p.Glu64Val) c.485A>T (p.Glu162Val) | |
7 | g.50529236T>C | CA367526660 | DDC,FIGNL1 | c.542A>G (p.Glu181Gly) c.308A>G (p.Glu103Gly) c.213-956A>G c.435+8624A>G (n.435+8624A>G) c.428A>G (p.Glu143Gly) n.341A>G c.-11+13282A>G (n.-11+13282A>G) c.191A>G (p.Glu64Gly) c.485A>G (p.Glu162Gly) | |
7 | g.50529236T>G | CA367526661 | DDC,FIGNL1 | c.542A>C (p.Glu181Ala) c.308A>C (p.Glu103Ala) c.213-956A>C c.435+8624A>C (n.435+8624A>C) c.428A>C (p.Glu143Ala) n.341A>C c.-11+13282A>C (n.-11+13282A>C) c.191A>C (p.Glu64Ala) c.485A>C (p.Glu162Ala) | |
7 | g.50529237C>A | CA367526662 | DDC,FIGNL1 | c.541G>T (p.Glu181Ter) c.307G>T (p.Glu103Ter) c.213-957G>T c.435+8623G>T (n.435+8623G>T) c.427G>T (p.Glu143Ter) n.340G>T c.-11+13281G>T (n.-11+13281G>T) c.190G>T (p.Glu64Ter) c.484G>T (p.Glu162Ter) | |
7 | g.50529237C>G | CA367526663 | DDC,FIGNL1 | c.541G>C (p.Glu181Gln) c.307G>C (p.Glu103Gln) c.213-957G>C c.435+8623G>C (n.435+8623G>C) c.427G>C (p.Glu143Gln) n.340G>C c.-11+13281G>C (n.-11+13281G>C) c.190G>C (p.Glu64Gln) c.484G>C (p.Glu162Gln) | |
7 | g.50529237C>T | CA367526664 | DDC,FIGNL1 | c.541G>A (p.Glu181Lys) c.307G>A (p.Glu103Lys) c.213-957G>A c.435+8623G>A (n.435+8623G>A) c.427G>A (p.Glu143Lys) n.340G>A c.-11+13281G>A (n.-11+13281G>A) c.190G>A (p.Glu64Lys) c.484G>A (p.Glu162Lys) | |
7 | g.50529238C>A | CA367526665 | DDC,FIGNL1 | c.540G>T (p.Met180Ile) c.306G>T (p.Met102Ile) c.213-958G>T c.435+8622G>T (n.435+8622G>T) c.426G>T (p.Met142Ile) n.339G>T c.-11+13280G>T (n.-11+13280G>T) c.189G>T (p.Met63Ile) c.483G>T (p.Met161Ile) | |
7 | g.50529238C>G | CA367526666 | DDC,FIGNL1 | c.540G>C (p.Met180Ile) c.306G>C (p.Met102Ile) c.213-958G>C c.435+8622G>C (n.435+8622G>C) c.426G>C (p.Met142Ile) n.339G>C c.-11+13280G>C (n.-11+13280G>C) c.189G>C (p.Met63Ile) c.483G>C (p.Met161Ile) | |
7 | g.50529238C>T | CA367526667 | DDC,FIGNL1 | c.540G>A (p.Met180Ile) c.306G>A (p.Met102Ile) c.213-958G>A c.435+8622G>A (n.435+8622G>A) c.426G>A (p.Met142Ile) n.339G>A c.-11+13280G>A (n.-11+13280G>A) c.189G>A (p.Met63Ile) c.483G>A (p.Met161Ile) | |
7 | g.50529239A>C | CA367526669 | DDC,FIGNL1 | c.539T>G (p.Met180Arg) c.305T>G (p.Met102Arg) c.213-959T>G c.435+8621T>G (n.435+8621T>G) c.425T>G (p.Met142Arg) n.338T>G c.-11+13279T>G (n.-11+13279T>G) c.188T>G (p.Met63Arg) c.482T>G (p.Met161Arg) | gnomAD v4 |
7 | g.50529239A>G | CA367526670 | DDC,FIGNL1 | c.539T>C (p.Met180Thr) c.305T>C (p.Met102Thr) c.213-959T>C c.435+8621T>C (n.435+8621T>C) c.425T>C (p.Met142Thr) n.338T>C c.-11+13279T>C (n.-11+13279T>C) c.188T>C (p.Met63Thr) c.482T>C (p.Met161Thr) | |
7 | g.50529239A>T | CA367526668 | DDC,FIGNL1 | c.539T>A (p.Met180Lys) c.305T>A (p.Met102Lys) c.213-959T>A c.435+8621T>A (n.435+8621T>A) c.425T>A (p.Met142Lys) n.338T>A c.-11+13279T>A (n.-11+13279T>A) c.188T>A (p.Met63Lys) c.482T>A (p.Met161Lys) | |
7 | g.50529240T>A | CA367526672 | DDC,FIGNL1 | c.538A>T (p.Met180Leu) c.304A>T (p.Met102Leu) c.213-960A>T c.435+8620A>T (n.435+8620A>T) c.424A>T (p.Met142Leu) n.337A>T c.-11+13278A>T (n.-11+13278A>T) c.187A>T (p.Met63Leu) c.481A>T (p.Met161Leu) | |
7 | g.50529240T>C | CA367526671 | DDC,FIGNL1 | c.538A>G (p.Met180Val) c.304A>G (p.Met102Val) c.213-960A>G c.435+8620A>G (n.435+8620A>G) c.424A>G (p.Met142Val) n.337A>G c.-11+13278A>G (n.-11+13278A>G) c.187A>G (p.Met63Val) c.481A>G (p.Met161Val) | ClinVar dbSNP gnomAD v4 |
7 | g.50529240T>G | CA367526673 | DDC,FIGNL1 | c.538A>C (p.Met180Leu) c.304A>C (p.Met102Leu) c.213-960A>C c.435+8620A>C (n.435+8620A>C) c.424A>C (p.Met142Leu) n.337A>C c.-11+13278A>C (n.-11+13278A>C) c.187A>C (p.Met63Leu) c.481A>C (p.Met161Leu) | gnomAD v4 COSMIC COSMIC |
7 | g.50529241G>A | CA454937504 | DDC,FIGNL1 | c.537C>T (p.Ile179=) c.303C>T (p.Ile101=) c.213-961C>T c.435+8619C>T (n.435+8619C>T) c.423C>T (p.Ile141=) n.336C>T c.-11+13277C>T (n.-11+13277C>T) c.186C>T (p.Ile62=) c.480C>T (p.Ile160=) | COSMIC COSMIC |
7 | g.50529241G>C | CA367526674 | DDC,FIGNL1 | c.537C>G (p.Ile179Met) c.303C>G (p.Ile101Met) c.213-961C>G c.435+8619C>G (n.435+8619C>G) c.423C>G (p.Ile141Met) n.336C>G c.-11+13277C>G (n.-11+13277C>G) c.186C>G (p.Ile62Met) c.480C>G (p.Ile160Met) | gnomAD v4 |
7 | g.50529241G>T | CA454937505 | DDC,FIGNL1 | c.537C>A (p.Ile179=) c.303C>A (p.Ile101=) c.213-961C>A c.435+8619C>A (n.435+8619C>A) c.423C>A (p.Ile141=) n.336C>A c.-11+13277C>A (n.-11+13277C>A) c.186C>A (p.Ile62=) c.480C>A (p.Ile160=) | |
7 | g.50529242A>C | CA367526677 | DDC,FIGNL1 | c.536T>G (p.Ile179Ser) c.302T>G (p.Ile101Ser) c.213-962T>G c.435+8618T>G (n.435+8618T>G) c.422T>G (p.Ile141Ser) n.335T>G c.-11+13276T>G (n.-11+13276T>G) c.185T>G (p.Ile62Ser) c.479T>G (p.Ile160Ser) | |
7 | g.50529242A>G | CA367526675 | DDC,FIGNL1 | c.536T>C (p.Ile179Thr) c.302T>C (p.Ile101Thr) c.213-962T>C c.435+8618T>C (n.435+8618T>C) c.422T>C (p.Ile141Thr) n.335T>C c.-11+13276T>C (n.-11+13276T>C) c.185T>C (p.Ile62Thr) c.479T>C (p.Ile160Thr) | |
7 | g.50529242A>T | CA367526676 | DDC,FIGNL1 | c.536T>A (p.Ile179Asn) c.302T>A (p.Ile101Asn) c.213-962T>A c.435+8618T>A (n.435+8618T>A) c.422T>A (p.Ile141Asn) n.335T>A c.-11+13276T>A (n.-11+13276T>A) c.185T>A (p.Ile62Asn) c.479T>A (p.Ile160Asn) | |
7 | g.50529243T>A | CA367526678 | DDC,FIGNL1 | c.535A>T (p.Ile179Phe) c.301A>T (p.Ile101Phe) c.213-963A>T c.435+8617A>T (n.435+8617A>T) c.421A>T (p.Ile141Phe) n.334A>T c.-11+13275A>T (n.-11+13275A>T) c.184A>T (p.Ile62Phe) c.478A>T (p.Ile160Phe) | |
7 | g.50529243T>C | CA367526679 | DDC,FIGNL1 | c.535A>G (p.Ile179Val) c.301A>G (p.Ile101Val) c.213-963A>G c.435+8617A>G (n.435+8617A>G) c.421A>G (p.Ile141Val) n.334A>G c.-11+13275A>G (n.-11+13275A>G) c.184A>G (p.Ile62Val) c.478A>G (p.Ile160Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529243T>G | CA10629251 | DDC,FIGNL1 | c.535A>C (p.Ile179Leu) c.301A>C (p.Ile101Leu) c.213-963A>C c.435+8617A>C (n.435+8617A>C) c.421A>C (p.Ile141Leu) n.334A>C c.-11+13275A>C (n.-11+13275A>C) c.184A>C (p.Ile62Leu) c.478A>C (p.Ile160Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529243T= | CA1706649148 | DDC,FIGNL1 | c.535A= (p.Ile179=) c.301A= (p.Ile101=) c.213-963A= c.435+8617A= (n.435+8617A=) c.421A= (p.Ile141=) n.334A= c.-11+13275A= (n.-11+13275A=) c.184A= (p.Ile62=) c.478A= (p.Ile160=) | |
7 | g.50529244A>C | CA454937506 | DDC,FIGNL1 | c.534T>G (p.Ala178=) c.300T>G (p.Ala100=) c.213-964T>G c.435+8616T>G (n.435+8616T>G) c.420T>G (p.Ala140=) n.333T>G c.-11+13274T>G (n.-11+13274T>G) c.183T>G (p.Ala61=) c.477T>G (p.Ala159=) | |
7 | g.50529244A>G | CA454937507 | DDC,FIGNL1 | c.534T>C (p.Ala178=) c.300T>C (p.Ala100=) c.213-964T>C c.435+8616T>C (n.435+8616T>C) c.420T>C (p.Ala140=) n.333T>C c.-11+13274T>C (n.-11+13274T>C) c.183T>C (p.Ala61=) c.477T>C (p.Ala159=) | |
7 | g.50529244A>T | CA454937508 | DDC,FIGNL1 | c.534T>A (p.Ala178=) c.300T>A (p.Ala100=) c.213-964T>A c.435+8616T>A (n.435+8616T>A) c.420T>A (p.Ala140=) n.333T>A c.-11+13274T>A (n.-11+13274T>A) c.183T>A (p.Ala61=) c.477T>A (p.Ala159=) | |
7 | g.50529245G>A | CA158232912 | DDC,FIGNL1 | c.533C>T (p.Ala178Val) c.299C>T (p.Ala100Val) c.213-965C>T c.435+8615C>T (n.435+8615C>T) c.419C>T (p.Ala140Val) n.332C>T c.-11+13273C>T (n.-11+13273C>T) c.182C>T (p.Ala61Val) c.476C>T (p.Ala159Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529245G>C | CA367526680 | DDC,FIGNL1 | c.533C>G (p.Ala178Gly) c.299C>G (p.Ala100Gly) c.213-965C>G c.435+8615C>G (n.435+8615C>G) c.419C>G (p.Ala140Gly) n.332C>G c.-11+13273C>G (n.-11+13273C>G) c.182C>G (p.Ala61Gly) c.476C>G (p.Ala159Gly) | |
7 | g.50529245G= | CA1706649155 | DDC,FIGNL1 | c.533C= (p.Ala178=) c.299C= (p.Ala100=) c.213-965C= c.435+8615C= (n.435+8615C=) c.419C= (p.Ala140=) n.332C= c.-11+13273C= (n.-11+13273C=) c.182C= (p.Ala61=) c.476C= (p.Ala159=) | |
7 | g.50529245G>T | CA4262342 | DDC,FIGNL1 | c.533C>A (p.Ala178Asp) c.299C>A (p.Ala100Asp) c.213-965C>A c.435+8615C>A (n.435+8615C>A) c.419C>A (p.Ala140Asp) n.332C>A c.-11+13273C>A (n.-11+13273C>A) c.182C>A (p.Ala61Asp) c.476C>A (p.Ala159Asp) | ClinVar dbSNP ExAC gnomAD v4 |
7 | g.50529246C>A | CA367526681 | DDC,FIGNL1 | c.532G>T (p.Ala178Ser) c.298G>T (p.Ala100Ser) c.213-966G>T c.435+8614G>T (n.435+8614G>T) c.418G>T (p.Ala140Ser) n.331G>T c.-11+13272G>T (n.-11+13272G>T) c.181G>T (p.Ala61Ser) c.475G>T (p.Ala159Ser) | dbSNP |
7 | g.50529246C= | CA1706649157 | DDC,FIGNL1 | c.532G= (p.Ala178=) c.298G= (p.Ala100=) c.213-966G= c.435+8614G= (n.435+8614G=) c.418G= (p.Ala140=) n.331G= c.-11+13272G= (n.-11+13272G=) c.181G= (p.Ala61=) c.475G= (p.Ala159=) | |
7 | g.50529246C>G | CA367526682 | DDC,FIGNL1 | c.532G>C (p.Ala178Pro) c.298G>C (p.Ala100Pro) c.213-966G>C c.435+8614G>C (n.435+8614G>C) c.418G>C (p.Ala140Pro) n.331G>C c.-11+13272G>C (n.-11+13272G>C) c.181G>C (p.Ala61Pro) c.475G>C (p.Ala159Pro) | |
7 | g.50529246C>T | CA367526683 | DDC,FIGNL1 | c.532G>A (p.Ala178Thr) c.298G>A (p.Ala100Thr) c.213-966G>A c.435+8614G>A (n.435+8614G>A) c.418G>A (p.Ala140Thr) n.331G>A c.-11+13272G>A (n.-11+13272G>A) c.181G>A (p.Ala61Thr) c.475G>A (p.Ala159Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529247G>A | CA4262343 | DDC,FIGNL1 | c.531C>T (p.Ala177=) c.297C>T (p.Ala99=) c.213-967C>T c.435+8613C>T (n.435+8613C>T) c.417C>T (p.Ala139=) n.330C>T c.-11+13271C>T (n.-11+13271C>T) c.180C>T (p.Ala60=) c.474C>T (p.Ala158=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529247G>C | CA454937509 | DDC,FIGNL1 | c.531C>G (p.Ala177=) c.297C>G (p.Ala99=) c.213-967C>G c.435+8613C>G (n.435+8613C>G) c.417C>G (p.Ala139=) n.330C>G c.-11+13271C>G (n.-11+13271C>G) c.180C>G (p.Ala60=) c.474C>G (p.Ala158=) | ClinVar |
7 | g.50529247G= | CA1706649160 | DDC,FIGNL1 | c.531C= (p.Ala177=) c.297C= (p.Ala99=) c.213-967C= c.435+8613C= (n.435+8613C=) c.417C= (p.Ala139=) n.330C= c.-11+13271C= (n.-11+13271C=) c.180C= (p.Ala60=) c.474C= (p.Ala158=) | |
7 | g.50529247G>T | CA454937510 | DDC,FIGNL1 | c.531C>A (p.Ala177=) c.297C>A (p.Ala99=) c.213-967C>A c.435+8613C>A (n.435+8613C>A) c.417C>A (p.Ala139=) n.330C>A c.-11+13271C>A (n.-11+13271C>A) c.180C>A (p.Ala60=) c.474C>A (p.Ala158=) | COSMIC COSMIC |
7 | g.50529248G>A | CA367526686 | DDC,FIGNL1 | c.530C>T (p.Ala177Val) c.296C>T (p.Ala99Val) c.213-968C>T c.435+8612C>T (n.435+8612C>T) c.416C>T (p.Ala139Val) n.329C>T c.-11+13270C>T (n.-11+13270C>T) c.179C>T (p.Ala60Val) c.473C>T (p.Ala158Val) | gnomAD v4 |
7 | g.50529248G>C | CA367526684 | DDC,FIGNL1 | c.530C>G (p.Ala177Gly) c.296C>G (p.Ala99Gly) c.213-968C>G c.435+8612C>G (n.435+8612C>G) c.416C>G (p.Ala139Gly) n.329C>G c.-11+13270C>G (n.-11+13270C>G) c.179C>G (p.Ala60Gly) c.473C>G (p.Ala158Gly) | dbSNP |
7 | g.50529248G>T | CA367526685 | DDC,FIGNL1 | c.530C>A (p.Ala177Asp) c.296C>A (p.Ala99Asp) c.213-968C>A c.435+8612C>A (n.435+8612C>A) c.416C>A (p.Ala139Asp) n.329C>A c.-11+13270C>A (n.-11+13270C>A) c.179C>A (p.Ala60Asp) c.473C>A (p.Ala158Asp) | |
7 | g.50529249C>A | CA367526687 | DDC,FIGNL1 | c.529G>T (p.Ala177Ser) c.295G>T (p.Ala99Ser) c.213-969G>T c.435+8611G>T (n.435+8611G>T) c.415G>T (p.Ala139Ser) n.328G>T c.-11+13269G>T (n.-11+13269G>T) c.178G>T (p.Ala60Ser) c.472G>T (p.Ala158Ser) | |
7 | g.50529249C= | CA1706649163 | DDC,FIGNL1 | c.529G= (p.Ala177=) c.295G= (p.Ala99=) c.213-969G= c.435+8611G= (n.435+8611G=) c.415G= (p.Ala139=) n.328G= c.-11+13269G= (n.-11+13269G=) c.178G= (p.Ala60=) c.472G= (p.Ala158=) | |
7 | g.50529249C>G | CA367526688 | DDC,FIGNL1 | c.529G>C (p.Ala177Pro) c.295G>C (p.Ala99Pro) c.213-969G>C c.435+8611G>C (n.435+8611G>C) c.415G>C (p.Ala139Pro) n.328G>C c.-11+13269G>C (n.-11+13269G>C) c.178G>C (p.Ala60Pro) c.472G>C (p.Ala158Pro) | |
7 | g.50529249C>T | CA367526689 | DDC,FIGNL1 | c.529G>A (p.Ala177Thr) c.295G>A (p.Ala99Thr) c.213-969G>A c.435+8611G>A (n.435+8611G>A) c.415G>A (p.Ala139Thr) n.328G>A c.-11+13269G>A (n.-11+13269G>A) c.178G>A (p.Ala60Thr) c.472G>A (p.Ala158Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529250C>A | CA4262344 | DDC,FIGNL1 | c.528G>T (p.Gln176His) c.294G>T (p.Gln98His) c.213-970G>T c.435+8610G>T (n.435+8610G>T) c.414G>T (p.Gln138His) n.327G>T c.-11+13268G>T (n.-11+13268G>T) c.177G>T (p.Gln59His) c.471G>T (p.Gln157His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529250C= | CA1706649165 | DDC,FIGNL1 | c.528G= (p.Gln176=) c.294G= (p.Gln98=) c.213-970G= c.435+8610G= (n.435+8610G=) c.414G= (p.Gln138=) n.327G= c.-11+13268G= (n.-11+13268G=) c.177G= (p.Gln59=) c.471G= (p.Gln157=) | |
7 | g.50529250C>G | CA367526690 | DDC,FIGNL1 | c.528G>C (p.Gln176His) c.294G>C (p.Gln98His) c.213-970G>C c.435+8610G>C (n.435+8610G>C) c.414G>C (p.Gln138His) n.327G>C c.-11+13268G>C (n.-11+13268G>C) c.177G>C (p.Gln59His) c.471G>C (p.Gln157His) | |
7 | g.50529250C>T | CA454937511 | DDC,FIGNL1 | c.528G>A (p.Gln176=) c.294G>A (p.Gln98=) c.213-970G>A c.435+8610G>A (n.435+8610G>A) c.414G>A (p.Gln138=) n.327G>A c.-11+13268G>A (n.-11+13268G>A) c.177G>A (p.Gln59=) c.471G>A (p.Gln157=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529251T>A | CA367526691 | DDC,FIGNL1 | c.527A>T (p.Gln176Leu) c.293A>T (p.Gln98Leu) c.213-971A>T c.435+8609A>T (n.435+8609A>T) c.413A>T (p.Gln138Leu) n.326A>T c.-11+13267A>T (n.-11+13267A>T) c.176A>T (p.Gln59Leu) c.470A>T (p.Gln157Leu) | gnomAD v4 |
7 | g.50529251T>C | CA4262345 | DDC,FIGNL1 | c.527A>G (p.Gln176Arg) c.293A>G (p.Gln98Arg) c.213-971A>G c.435+8609A>G (n.435+8609A>G) c.413A>G (p.Gln138Arg) n.326A>G c.-11+13267A>G (n.-11+13267A>G) c.176A>G (p.Gln59Arg) c.470A>G (p.Gln157Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529251T>G | CA367526692 | DDC,FIGNL1 | c.527A>C (p.Gln176Pro) c.293A>C (p.Gln98Pro) c.213-971A>C c.435+8609A>C (n.435+8609A>C) c.413A>C (p.Gln138Pro) n.326A>C c.-11+13267A>C (n.-11+13267A>C) c.176A>C (p.Gln59Pro) c.470A>C (p.Gln157Pro) | |
7 | g.50529251T= | CA1706649167 | DDC,FIGNL1 | c.527A= (p.Gln176=) c.293A= (p.Gln98=) c.213-971A= c.435+8609A= (n.435+8609A=) c.413A= (p.Gln138=) n.326A= c.-11+13267A= (n.-11+13267A=) c.176A= (p.Gln59=) c.470A= (p.Gln157=) | |
7 | g.50529252G>A | CA367526693 | DDC,FIGNL1 | c.526C>T (p.Gln176Ter) c.292C>T (p.Gln98Ter) c.213-972C>T c.435+8608C>T (n.435+8608C>T) c.412C>T (p.Gln138Ter) n.325C>T c.-11+13266C>T (n.-11+13266C>T) c.175C>T (p.Gln59Ter) c.469C>T (p.Gln157Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.50529252G>C | CA367526694 | DDC,FIGNL1 | c.526C>G (p.Gln176Glu) c.292C>G (p.Gln98Glu) c.213-972C>G c.435+8608C>G (n.435+8608C>G) c.412C>G (p.Gln138Glu) n.325C>G c.-11+13266C>G (n.-11+13266C>G) c.175C>G (p.Gln59Glu) c.469C>G (p.Gln157Glu) | ClinVar dbSNP gnomAD v4 |
7 | g.50529252G= | CA1706649170 | DDC,FIGNL1 | c.526C= (p.Gln176=) c.292C= (p.Gln98=) c.213-972C= c.435+8608C= (n.435+8608C=) c.412C= (p.Gln138=) n.325C= c.-11+13266C= (n.-11+13266C=) c.175C= (p.Gln59=) c.469C= (p.Gln157=) | |
7 | g.50529252G>T | CA4262346 | DDC,FIGNL1 | c.526C>A (p.Gln176Lys) c.292C>A (p.Gln98Lys) c.213-972C>A c.435+8608C>A (n.435+8608C>A) c.412C>A (p.Gln138Lys) n.325C>A c.-11+13266C>A (n.-11+13266C>A) c.175C>A (p.Gln59Lys) c.469C>A (p.Gln157Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529253T>A | CA454937512 | DDC,FIGNL1 | c.525A>T (p.Thr175=) c.291A>T (p.Thr97=) c.213-973A>T c.435+8607A>T (n.435+8607A>T) c.411A>T (p.Thr137=) n.324A>T c.-11+13265A>T (n.-11+13265A>T) c.174A>T (p.Thr58=) c.468A>T (p.Thr156=) | |
7 | g.50529253T>C | CA454937513 | DDC,FIGNL1 | c.525A>G (p.Thr175=) c.291A>G (p.Thr97=) c.213-973A>G c.435+8607A>G (n.435+8607A>G) c.411A>G (p.Thr137=) n.324A>G c.-11+13265A>G (n.-11+13265A>G) c.174A>G (p.Thr58=) c.468A>G (p.Thr156=) | |
7 | g.50529253T>G | CA454937514 | DDC,FIGNL1 | c.525A>C (p.Thr175=) c.291A>C (p.Thr97=) c.213-973A>C c.435+8607A>C (n.435+8607A>C) c.411A>C (p.Thr137=) n.324A>C c.-11+13265A>C (n.-11+13265A>C) c.174A>C (p.Thr58=) c.468A>C (p.Thr156=) | |
7 | g.50529254G>A | CA367526696 | DDC,FIGNL1 | c.524C>T (p.Thr175Ile) c.290C>T (p.Thr97Ile) c.213-974C>T c.435+8606C>T (n.435+8606C>T) c.410C>T (p.Thr137Ile) n.323C>T c.-11+13264C>T (n.-11+13264C>T) c.173C>T (p.Thr58Ile) c.467C>T (p.Thr156Ile) | gnomAD v4 |
7 | g.50529254G>C | CA367526697 | DDC,FIGNL1 | c.524C>G (p.Thr175Arg) c.290C>G (p.Thr97Arg) c.213-974C>G c.435+8606C>G (n.435+8606C>G) c.410C>G (p.Thr137Arg) n.323C>G c.-11+13264C>G (n.-11+13264C>G) c.173C>G (p.Thr58Arg) c.467C>G (p.Thr156Arg) | |
7 | g.50529254G>T | CA367526695 | DDC,FIGNL1 | c.524C>A (p.Thr175Lys) c.290C>A (p.Thr97Lys) c.213-974C>A c.435+8606C>A (n.435+8606C>A) c.410C>A (p.Thr137Lys) n.323C>A c.-11+13264C>A (n.-11+13264C>A) c.173C>A (p.Thr58Lys) c.467C>A (p.Thr156Lys) | |
7 | g.50529255T>A | CA367526698 | DDC,FIGNL1 | c.523A>T (p.Thr175Ser) c.289A>T (p.Thr97Ser) c.213-975A>T c.435+8605A>T (n.435+8605A>T) c.409A>T (p.Thr137Ser) n.322A>T c.-11+13263A>T (n.-11+13263A>T) c.172A>T (p.Thr58Ser) c.466A>T (p.Thr156Ser) | |
7 | g.50529255T>C | CA367526699 | DDC,FIGNL1 | c.523A>G (p.Thr175Ala) c.289A>G (p.Thr97Ala) c.213-975A>G c.435+8605A>G (n.435+8605A>G) c.409A>G (p.Thr137Ala) n.322A>G c.-11+13263A>G (n.-11+13263A>G) c.172A>G (p.Thr58Ala) c.466A>G (p.Thr156Ala) | |
7 | g.50529255T>G | CA367526700 | DDC,FIGNL1 | c.523A>C (p.Thr175Pro) c.289A>C (p.Thr97Pro) c.213-975A>C c.435+8605A>C (n.435+8605A>C) c.409A>C (p.Thr137Pro) n.322A>C c.-11+13263A>C (n.-11+13263A>C) c.172A>C (p.Thr58Pro) c.466A>C (p.Thr156Pro) | gnomAD v4 |
7 | g.50529256G>A | CA4262347 | DDC,FIGNL1 | c.522C>T (p.Leu174=) c.288C>T (p.Leu96=) c.213-976C>T c.435+8604C>T (n.435+8604C>T) c.408C>T (p.Leu136=) n.321C>T c.-11+13262C>T (n.-11+13262C>T) c.171C>T (p.Leu57=) c.465C>T (p.Leu155=) | dbSNP ExAC gnomAD v4 |
7 | g.50529256G>C | CA454937516 | DDC,FIGNL1 | c.522C>G (p.Leu174=) c.288C>G (p.Leu96=) c.213-976C>G c.435+8604C>G (n.435+8604C>G) c.408C>G (p.Leu136=) n.321C>G c.-11+13262C>G (n.-11+13262C>G) c.171C>G (p.Leu57=) c.465C>G (p.Leu155=) | |
7 | g.50529256G= | CA1706649172 | DDC,FIGNL1 | c.522C= (p.Leu174=) c.288C= (p.Leu96=) c.213-976C= c.435+8604C= (n.435+8604C=) c.408C= (p.Leu136=) n.321C= c.-11+13262C= (n.-11+13262C=) c.171C= (p.Leu57=) c.465C= (p.Leu155=) | |
7 | g.50529256G>T | CA454937515 | DDC,FIGNL1 | c.522C>A (p.Leu174=) c.288C>A (p.Leu96=) c.213-976C>A c.435+8604C>A (n.435+8604C>A) c.408C>A (p.Leu136=) n.321C>A c.-11+13262C>A (n.-11+13262C>A) c.171C>A (p.Leu57=) c.465C>A (p.Leu155=) | |
7 | g.50529257A>C | CA367526701 | DDC,FIGNL1 | c.521T>G (p.Leu174Arg) c.287T>G (p.Leu96Arg) c.213-977T>G c.435+8603T>G (n.435+8603T>G) c.407T>G (p.Leu136Arg) n.320T>G c.-11+13261T>G (n.-11+13261T>G) c.170T>G (p.Leu57Arg) c.464T>G (p.Leu155Arg) | |
7 | g.50529257A>G | CA367526702 | DDC,FIGNL1 | c.521T>C (p.Leu174Pro) c.287T>C (p.Leu96Pro) c.213-977T>C c.435+8603T>C (n.435+8603T>C) c.407T>C (p.Leu136Pro) n.320T>C c.-11+13261T>C (n.-11+13261T>C) c.170T>C (p.Leu57Pro) c.464T>C (p.Leu155Pro) | gnomAD v4 |
7 | g.50529257A>T | CA367526703 | DDC,FIGNL1 | c.521T>A (p.Leu174His) c.287T>A (p.Leu96His) c.213-977T>A c.435+8603T>A (n.435+8603T>A) c.407T>A (p.Leu136His) n.320T>A c.-11+13261T>A (n.-11+13261T>A) c.170T>A (p.Leu57His) c.464T>A (p.Leu155His) | |
7 | g.50529258G>A | CA367526704 | DDC,FIGNL1 | c.520C>T (p.Leu174Phe) c.286C>T (p.Leu96Phe) c.213-978C>T c.435+8602C>T (n.435+8602C>T) c.406C>T (p.Leu136Phe) n.319C>T c.-11+13260C>T (n.-11+13260C>T) c.169C>T (p.Leu57Phe) c.463C>T (p.Leu155Phe) | |
7 | g.50529258G>C | CA367526705 | DDC,FIGNL1 | c.520C>G (p.Leu174Val) c.286C>G (p.Leu96Val) c.213-978C>G c.435+8602C>G (n.435+8602C>G) c.406C>G (p.Leu136Val) n.319C>G c.-11+13260C>G (n.-11+13260C>G) c.169C>G (p.Leu57Val) c.463C>G (p.Leu155Val) | |
7 | g.50529258G>T | CA367526706 | DDC,FIGNL1 | c.520C>A (p.Leu174Ile) c.286C>A (p.Leu96Ile) c.213-978C>A c.435+8602C>A (n.435+8602C>A) c.406C>A (p.Leu136Ile) n.319C>A c.-11+13260C>A (n.-11+13260C>A) c.169C>A (p.Leu57Ile) c.463C>A (p.Leu155Ile) | |
7 | g.50529259C>A | CA367526707 | DDC,FIGNL1 | c.519G>T (p.Glu173Asp) c.285G>T (p.Glu95Asp) c.213-979G>T c.435+8601G>T (n.435+8601G>T) c.405G>T (p.Glu135Asp) n.318G>T c.-11+13259G>T (n.-11+13259G>T) c.168G>T (p.Glu56Asp) c.462G>T (p.Glu154Asp) | |
7 | g.50529259C= | CA1706649174 | DDC,FIGNL1 | c.519G= (p.Glu173=) c.285G= (p.Glu95=) c.213-979G= c.435+8601G= (n.435+8601G=) c.405G= (p.Glu135=) n.318G= c.-11+13259G= (n.-11+13259G=) c.168G= (p.Glu56=) c.462G= (p.Glu154=) | |
7 | g.50529259C>G | CA4262348 | DDC,FIGNL1 | c.519G>C (p.Glu173Asp) c.285G>C (p.Glu95Asp) c.213-979G>C c.435+8601G>C (n.435+8601G>C) c.405G>C (p.Glu135Asp) n.318G>C c.-11+13259G>C (n.-11+13259G>C) c.168G>C (p.Glu56Asp) c.462G>C (p.Glu154Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529259C>T | CA454937517 | DDC,FIGNL1 | c.519G>A (p.Glu173=) c.285G>A (p.Glu95=) c.213-979G>A c.435+8601G>A (n.435+8601G>A) c.405G>A (p.Glu135=) n.318G>A c.-11+13259G>A (n.-11+13259G>A) c.168G>A (p.Glu56=) c.462G>A (p.Glu154=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50529260T>A | CA367526709 | DDC,FIGNL1 | c.518A>T (p.Glu173Val) c.284A>T (p.Glu95Val) c.213-980A>T c.435+8600A>T (n.435+8600A>T) c.404A>T (p.Glu135Val) n.317A>T c.-11+13258A>T (n.-11+13258A>T) c.167A>T (p.Glu56Val) c.461A>T (p.Glu154Val) | |
7 | g.50529260T>C | CA367526710 | DDC,FIGNL1 | c.518A>G (p.Glu173Gly) c.284A>G (p.Glu95Gly) c.213-980A>G c.435+8600A>G (n.435+8600A>G) c.404A>G (p.Glu135Gly) n.317A>G c.-11+13258A>G (n.-11+13258A>G) c.167A>G (p.Glu56Gly) c.461A>G (p.Glu154Gly) | |
7 | g.50529260T>G | CA367526708 | DDC,FIGNL1 | c.518A>C (p.Glu173Ala) c.284A>C (p.Glu95Ala) c.213-980A>C c.435+8600A>C (n.435+8600A>C) c.404A>C (p.Glu135Ala) n.317A>C c.-11+13258A>C (n.-11+13258A>C) c.167A>C (p.Glu56Ala) c.461A>C (p.Glu154Ala) | |
7 | g.50529261C>A | CA367526711 | DDC,FIGNL1 | c.517G>T (p.Glu173Ter) c.283G>T (p.Glu95Ter) c.213-981G>T c.435+8599G>T (n.435+8599G>T) c.403G>T (p.Glu135Ter) n.316G>T c.-11+13257G>T (n.-11+13257G>T) c.166G>T (p.Glu56Ter) c.460G>T (p.Glu154Ter) | |
7 | g.50529261C>G | CA367526712 | DDC,FIGNL1 | c.517G>C (p.Glu173Gln) c.283G>C (p.Glu95Gln) c.213-981G>C c.435+8599G>C (n.435+8599G>C) c.403G>C (p.Glu135Gln) n.316G>C c.-11+13257G>C (n.-11+13257G>C) c.166G>C (p.Glu56Gln) c.460G>C (p.Glu154Gln) | |
7 | g.50529261C>T | CA367526713 | DDC,FIGNL1 | c.517G>A (p.Glu173Lys) c.283G>A (p.Glu95Lys) c.213-981G>A c.435+8599G>A (n.435+8599G>A) c.403G>A (p.Glu135Lys) n.316G>A c.-11+13257G>A (n.-11+13257G>A) c.166G>A (p.Glu56Lys) c.460G>A (p.Glu154Lys) | gnomAD v4 |
7 | g.50529262T>A | CA454937518 | DDC,FIGNL1 | c.516A>T (p.Pro172=) c.282A>T (p.Pro94=) c.213-982A>T c.435+8598A>T (n.435+8598A>T) c.402A>T (p.Pro134=) n.315A>T c.-11+13256A>T (n.-11+13256A>T) c.165A>T (p.Pro55=) c.459A>T (p.Pro153=) | |
7 | g.50529262T>C | CA454937519 | DDC,FIGNL1 | c.516A>G (p.Pro172=) c.282A>G (p.Pro94=) c.213-982A>G c.435+8598A>G (n.435+8598A>G) c.402A>G (p.Pro134=) n.315A>G c.-11+13256A>G (n.-11+13256A>G) c.165A>G (p.Pro55=) c.459A>G (p.Pro153=) | |
7 | g.50529262T>G | CA454937520 | DDC,FIGNL1 | c.516A>C (p.Pro172=) c.282A>C (p.Pro94=) c.213-982A>C c.435+8598A>C (n.435+8598A>C) c.402A>C (p.Pro134=) n.315A>C c.-11+13256A>C (n.-11+13256A>C) c.165A>C (p.Pro55=) c.459A>C (p.Pro153=) | |
7 | g.50529263G>A | CA367526714 | DDC,FIGNL1 | c.515C>T (p.Pro172Leu) c.281C>T (p.Pro94Leu) c.213-983C>T c.435+8597C>T (n.435+8597C>T) c.401C>T (p.Pro134Leu) n.314C>T c.-11+13255C>T (n.-11+13255C>T) c.164C>T (p.Pro55Leu) c.458C>T (p.Pro153Leu) | |
7 | g.50529263G>C | CA367526715 | DDC,FIGNL1 | c.515C>G (p.Pro172Arg) c.281C>G (p.Pro94Arg) c.213-983C>G c.435+8597C>G (n.435+8597C>G) c.401C>G (p.Pro134Arg) n.314C>G c.-11+13255C>G (n.-11+13255C>G) c.164C>G (p.Pro55Arg) c.458C>G (p.Pro153Arg) | COSMIC COSMIC |
7 | g.50529263G>T | CA367526716 | DDC,FIGNL1 | c.515C>A (p.Pro172Gln) c.281C>A (p.Pro94Gln) c.213-983C>A c.435+8597C>A (n.435+8597C>A) c.401C>A (p.Pro134Gln) n.314C>A c.-11+13255C>A (n.-11+13255C>A) c.164C>A (p.Pro55Gln) c.458C>A (p.Pro153Gln) | gnomAD v4 |
7 | g.50529264G>A | CA367526719 | DDC,FIGNL1 | c.514C>T (p.Pro172Ser) c.280C>T (p.Pro94Ser) c.213-984C>T c.435+8596C>T (n.435+8596C>T) c.400C>T (p.Pro134Ser) n.313C>T c.-11+13254C>T (n.-11+13254C>T) c.163C>T (p.Pro55Ser) c.457C>T (p.Pro153Ser) | gnomAD v4 |
7 | g.50529264G>C | CA367526717 | DDC,FIGNL1 | c.514C>G (p.Pro172Ala) c.280C>G (p.Pro94Ala) c.213-984C>G c.435+8596C>G (n.435+8596C>G) c.400C>G (p.Pro134Ala) n.313C>G c.-11+13254C>G (n.-11+13254C>G) c.163C>G (p.Pro55Ala) c.457C>G (p.Pro153Ala) | |
7 | g.50529264G>T | CA367526718 | DDC,FIGNL1 | c.514C>A (p.Pro172Thr) c.280C>A (p.Pro94Thr) c.213-984C>A c.435+8596C>A (n.435+8596C>A) c.400C>A (p.Pro134Thr) n.313C>A c.-11+13254C>A (n.-11+13254C>A) c.163C>A (p.Pro55Thr) c.457C>A (p.Pro153Thr) | |
7 | g.50529265G>A | CA158232913 | DDC,FIGNL1 | c.513C>T (p.Ser171=) c.279C>T (p.Ser93=) c.213-985C>T c.435+8595C>T (n.435+8595C>T) c.399C>T (p.Ser133=) n.312C>T c.-11+13253C>T (n.-11+13253C>T) c.162C>T (p.Ser54=) c.456C>T (p.Ser152=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50529265G>C | CA454937521 | DDC,FIGNL1 | c.513C>G (p.Ser171=) c.279C>G (p.Ser93=) c.213-985C>G c.435+8595C>G (n.435+8595C>G) c.399C>G (p.Ser133=) n.312C>G c.-11+13253C>G (n.-11+13253C>G) c.162C>G (p.Ser54=) c.456C>G (p.Ser152=) | |
7 | g.50529265G= | CA1706649176 | DDC,FIGNL1 | c.513C= (p.Ser171=) c.279C= (p.Ser93=) c.213-985C= c.435+8595C= (n.435+8595C=) c.399C= (p.Ser133=) n.312C= c.-11+13253C= (n.-11+13253C=) c.162C= (p.Ser54=) c.456C= (p.Ser152=) | |
7 | g.50529265G>T | CA454937522 | DDC,FIGNL1 | c.513C>A (p.Ser171=) c.279C>A (p.Ser93=) c.213-985C>A c.435+8595C>A (n.435+8595C>A) c.399C>A (p.Ser133=) n.312C>A c.-11+13253C>A (n.-11+13253C>A) c.162C>A (p.Ser54=) c.456C>A (p.Ser152=) | |
7 | g.50529266G>A | CA367526720 | DDC,FIGNL1 | c.512C>T (p.Ser171Phe) c.278C>T (p.Ser93Phe) c.213-986C>T c.435+8594C>T (n.435+8594C>T) c.398C>T (p.Ser133Phe) n.311C>T c.-11+13252C>T (n.-11+13252C>T) c.161C>T (p.Ser54Phe) c.455C>T (p.Ser152Phe) | |
7 | g.50529266G>C | CA367526721 | DDC,FIGNL1 | c.512C>G (p.Ser171Cys) c.278C>G (p.Ser93Cys) c.213-986C>G c.435+8594C>G (n.435+8594C>G) c.398C>G (p.Ser133Cys) n.311C>G c.-11+13252C>G (n.-11+13252C>G) c.161C>G (p.Ser54Cys) c.455C>G (p.Ser152Cys) | |
7 | g.50529266G>T | CA367526722 | DDC,FIGNL1 | c.512C>A (p.Ser171Tyr) c.278C>A (p.Ser93Tyr) c.213-986C>A c.435+8594C>A (n.435+8594C>A) c.398C>A (p.Ser133Tyr) n.311C>A c.-11+13252C>A (n.-11+13252C>A) c.161C>A (p.Ser54Tyr) c.455C>A (p.Ser152Tyr) | |
7 | g.50529267A>C | CA367526723 | DDC,FIGNL1 | c.511T>G (p.Ser171Ala) c.277T>G (p.Ser93Ala) c.213-987T>G c.435+8593T>G (n.435+8593T>G) c.397T>G (p.Ser133Ala) n.310T>G c.-11+13251T>G (n.-11+13251T>G) c.160T>G (p.Ser54Ala) c.454T>G (p.Ser152Ala) | |
7 | g.50529267A>G | CA367526724 | DDC,FIGNL1 | c.511T>C (p.Ser171Pro) c.277T>C (p.Ser93Pro) c.213-987T>C c.435+8593T>C (n.435+8593T>C) c.397T>C (p.Ser133Pro) n.310T>C c.-11+13251T>C (n.-11+13251T>C) c.160T>C (p.Ser54Pro) c.454T>C (p.Ser152Pro) | COSMIC COSMIC |
7 | g.50529267A>T | CA367526725 | DDC,FIGNL1 | c.511T>A (p.Ser171Thr) c.277T>A (p.Ser93Thr) c.213-987T>A c.435+8593T>A (n.435+8593T>A) c.397T>A (p.Ser133Thr) n.310T>A c.-11+13251T>A (n.-11+13251T>A) c.160T>A (p.Ser54Thr) c.454T>A (p.Ser152Thr) | |
7 | g.50529268C>A | CA454937523 | DDC,FIGNL1 | c.510G>T (p.Ala170=) c.276G>T (p.Ala92=) c.213-988G>T c.435+8592G>T (n.435+8592G>T) c.396G>T (p.Ala132=) n.309G>T c.-11+13250G>T (n.-11+13250G>T) c.159G>T (p.Ala53=) c.453G>T (p.Ala151=) | |
7 | g.50529268C= | CA1706649179 | DDC,FIGNL1 | c.510G= (p.Ala170=) c.276G= (p.Ala92=) c.213-988G= c.435+8592G= (n.435+8592G=) c.396G= (p.Ala132=) n.309G= c.-11+13250G= (n.-11+13250G=) c.159G= (p.Ala53=) c.453G= (p.Ala151=) | |
7 | g.50529268C>G | CA454937524 | DDC,FIGNL1 | c.510G>C (p.Ala170=) c.276G>C (p.Ala92=) c.213-988G>C c.435+8592G>C (n.435+8592G>C) c.396G>C (p.Ala132=) n.309G>C c.-11+13250G>C (n.-11+13250G>C) c.159G>C (p.Ala53=) c.453G>C (p.Ala151=) | |
7 | g.50529268C>T | CA4262349 | DDC,FIGNL1 | c.510G>A (p.Ala170=) c.276G>A (p.Ala92=) c.213-988G>A c.435+8592G>A (n.435+8592G>A) c.396G>A (p.Ala132=) n.309G>A c.-11+13250G>A (n.-11+13250G>A) c.159G>A (p.Ala53=) c.453G>A (p.Ala151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529269G>A | CA4262350 | DDC,FIGNL1 | c.509C>T (p.Ala170Val) c.275C>T (p.Ala92Val) c.213-989C>T c.435+8591C>T (n.435+8591C>T) c.395C>T (p.Ala132Val) n.308C>T c.-11+13249C>T (n.-11+13249C>T) c.158C>T (p.Ala53Val) c.452C>T (p.Ala151Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529269G>C | CA367526726 | DDC,FIGNL1 | c.509C>G (p.Ala170Gly) c.275C>G (p.Ala92Gly) c.213-989C>G c.435+8591C>G (n.435+8591C>G) c.395C>G (p.Ala132Gly) n.308C>G c.-11+13249C>G (n.-11+13249C>G) c.158C>G (p.Ala53Gly) c.452C>G (p.Ala151Gly) | gnomAD v4 |
7 | g.50529269G= | CA1706649181 | DDC,FIGNL1 | c.509C= (p.Ala170=) c.275C= (p.Ala92=) c.213-989C= c.435+8591C= (n.435+8591C=) c.395C= (p.Ala132=) n.308C= c.-11+13249C= (n.-11+13249C=) c.158C= (p.Ala53=) c.452C= (p.Ala151=) | |
7 | g.50529269G>T | CA367526727 | DDC,FIGNL1 | c.509C>A (p.Ala170Glu) c.275C>A (p.Ala92Glu) c.213-989C>A c.435+8591C>A (n.435+8591C>A) c.395C>A (p.Ala132Glu) n.308C>A c.-11+13249C>A (n.-11+13249C>A) c.158C>A (p.Ala53Glu) c.452C>A (p.Ala151Glu) | |
7 | g.50529270C>A | CA367526728 | DDC,FIGNL1 | c.508G>T (p.Ala170Ser) c.274G>T (p.Ala92Ser) c.213-990G>T c.435+8590G>T (n.435+8590G>T) c.394G>T (p.Ala132Ser) n.307G>T c.-11+13248G>T (n.-11+13248G>T) c.157G>T (p.Ala53Ser) c.451G>T (p.Ala151Ser) | |
7 | g.50529270C>G | CA367526729 | DDC,FIGNL1 | c.508G>C (p.Ala170Pro) c.274G>C (p.Ala92Pro) c.213-990G>C c.435+8590G>C (n.435+8590G>C) c.394G>C (p.Ala132Pro) n.307G>C c.-11+13248G>C (n.-11+13248G>C) c.157G>C (p.Ala53Pro) c.451G>C (p.Ala151Pro) | |
7 | g.50529270C>T | CA367526730 | DDC,FIGNL1 | c.508G>A (p.Ala170Thr) c.274G>A (p.Ala92Thr) c.213-990G>A c.435+8590G>A (n.435+8590G>A) c.394G>A (p.Ala132Thr) n.307G>A c.-11+13248G>A (n.-11+13248G>A) c.157G>A (p.Ala53Thr) c.451G>A (p.Ala151Thr) | |
7 | g.50529271T>A | CA454937525 | DDC,FIGNL1 | c.507A>T (p.Ala169=) c.273A>T (p.Ala91=) c.213-991A>T c.435+8589A>T (n.435+8589A>T) c.393A>T (p.Ala131=) n.306A>T c.-11+13247A>T (n.-11+13247A>T) c.156A>T (p.Ala52=) c.450A>T (p.Ala150=) | |
7 | g.50529271T>C | CA454937526 | DDC,FIGNL1 | c.507A>G (p.Ala169=) c.273A>G (p.Ala91=) c.213-991A>G c.435+8589A>G (n.435+8589A>G) c.393A>G (p.Ala131=) n.306A>G c.-11+13247A>G (n.-11+13247A>G) c.156A>G (p.Ala52=) c.450A>G (p.Ala150=) | ClinVar dbSNP |
7 | g.50529271T>G | CA454937527 | DDC,FIGNL1 | c.507A>C (p.Ala169=) c.273A>C (p.Ala91=) c.213-991A>C c.435+8589A>C (n.435+8589A>C) c.393A>C (p.Ala131=) n.306A>C c.-11+13247A>C (n.-11+13247A>C) c.156A>C (p.Ala52=) c.450A>C (p.Ala150=) | |
7 | g.50529272G>A | CA367526731 | DDC,FIGNL1 | c.506C>T (p.Ala169Val) c.272C>T (p.Ala91Val) c.213-992C>T c.435+8588C>T (n.435+8588C>T) c.392C>T (p.Ala131Val) n.305C>T c.-11+13246C>T (n.-11+13246C>T) c.155C>T (p.Ala52Val) c.449C>T (p.Ala150Val) | |
7 | g.50529272G>C | CA367526732 | DDC,FIGNL1 | c.506C>G (p.Ala169Gly) c.272C>G (p.Ala91Gly) c.213-992C>G c.435+8588C>G (n.435+8588C>G) c.392C>G (p.Ala131Gly) n.305C>G c.-11+13246C>G (n.-11+13246C>G) c.155C>G (p.Ala52Gly) c.449C>G (p.Ala150Gly) | |
7 | g.50529272G>T | CA367526733 | DDC,FIGNL1 | c.506C>A (p.Ala169Glu) c.272C>A (p.Ala91Glu) c.213-992C>A c.435+8588C>A (n.435+8588C>A) c.392C>A (p.Ala131Glu) n.305C>A c.-11+13246C>A (n.-11+13246C>A) c.155C>A (p.Ala52Glu) c.449C>A (p.Ala150Glu) | |
7 | g.50529273C>A | CA367526734 | DDC,FIGNL1 | c.505G>T (p.Ala169Ser) c.271G>T (p.Ala91Ser) c.213-993G>T c.435+8587G>T (n.435+8587G>T) c.391G>T (p.Ala131Ser) n.304G>T c.-11+13245G>T (n.-11+13245G>T) c.154G>T (p.Ala52Ser) c.448G>T (p.Ala150Ser) | |
7 | g.50529273C>G | CA367526736 | DDC,FIGNL1 | c.505G>C (p.Ala169Pro) c.271G>C (p.Ala91Pro) c.213-993G>C c.435+8587G>C (n.435+8587G>C) c.391G>C (p.Ala131Pro) n.304G>C c.-11+13245G>C (n.-11+13245G>C) c.154G>C (p.Ala52Pro) c.448G>C (p.Ala150Pro) | |
7 | g.50529273C>T | CA367526735 | DDC,FIGNL1 | c.505G>A (p.Ala169Thr) c.271G>A (p.Ala91Thr) c.213-993G>A c.435+8587G>A (n.435+8587G>A) c.391G>A (p.Ala131Thr) n.304G>A c.-11+13245G>A (n.-11+13245G>A) c.154G>A (p.Ala52Thr) c.448G>A (p.Ala150Thr) | gnomAD v4 |
7 | g.50529274C>A | CA367526737 | DDC,FIGNL1 | c.504G>T (p.Gln168His) c.270G>T (p.Gln90His) c.213-994G>T c.435+8586G>T (n.435+8586G>T) c.390G>T (p.Gln130His) n.303G>T c.-11+13244G>T (n.-11+13244G>T) c.153G>T (p.Gln51His) c.447G>T (p.Gln149His) | |
7 | g.50529274C>G | CA367526738 | DDC,FIGNL1 | c.504G>C (p.Gln168His) c.270G>C (p.Gln90His) c.213-994G>C c.435+8586G>C (n.435+8586G>C) c.390G>C (p.Gln130His) n.303G>C c.-11+13244G>C (n.-11+13244G>C) c.153G>C (p.Gln51His) c.447G>C (p.Gln149His) | |
7 | g.50529274C>T | CA454937528 | DDC,FIGNL1 | c.504G>A (p.Gln168=) c.270G>A (p.Gln90=) c.213-994G>A c.435+8586G>A (n.435+8586G>A) c.390G>A (p.Gln130=) n.303G>A c.-11+13244G>A (n.-11+13244G>A) c.153G>A (p.Gln51=) c.447G>A (p.Gln149=) | gnomAD v4 |
7 | g.50529275T>A | CA367526739 | DDC,FIGNL1 | c.503A>T (p.Gln168Leu) c.269A>T (p.Gln90Leu) c.213-995A>T c.435+8585A>T (n.435+8585A>T) c.389A>T (p.Gln130Leu) n.302A>T c.-11+13243A>T (n.-11+13243A>T) c.152A>T (p.Gln51Leu) c.446A>T (p.Gln149Leu) | |
7 | g.50529275T>C | CA367526740 | DDC,FIGNL1 | c.503A>G (p.Gln168Arg) c.269A>G (p.Gln90Arg) c.213-995A>G c.435+8585A>G (n.435+8585A>G) c.389A>G (p.Gln130Arg) n.302A>G c.-11+13243A>G (n.-11+13243A>G) c.152A>G (p.Gln51Arg) c.446A>G (p.Gln149Arg) | |
7 | g.50529275T>G | CA367526741 | DDC,FIGNL1 | c.503A>C (p.Gln168Pro) c.269A>C (p.Gln90Pro) c.213-995A>C c.435+8585A>C (n.435+8585A>C) c.389A>C (p.Gln130Pro) n.302A>C c.-11+13243A>C (n.-11+13243A>C) c.152A>C (p.Gln51Pro) c.446A>C (p.Gln149Pro) | |
7 | g.50529276G>A | CA367526742 | DDC,FIGNL1 | c.502C>T (p.Gln168Ter) c.268C>T (p.Gln90Ter) c.213-996C>T c.435+8584C>T (n.435+8584C>T) c.388C>T (p.Gln130Ter) n.301C>T c.-11+13242C>T (n.-11+13242C>T) c.151C>T (p.Gln51Ter) c.445C>T (p.Gln149Ter) | gnomAD v4 |
7 | g.50529276G>C | CA367526744 | DDC,FIGNL1 | c.502C>G (p.Gln168Glu) c.268C>G (p.Gln90Glu) c.213-996C>G c.435+8584C>G (n.435+8584C>G) c.388C>G (p.Gln130Glu) n.301C>G c.-11+13242C>G (n.-11+13242C>G) c.151C>G (p.Gln51Glu) c.445C>G (p.Gln149Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529276G= | CA1706649183 | DDC,FIGNL1 | c.502C= (p.Gln168=) c.268C= (p.Gln90=) c.213-996C= c.435+8584C= (n.435+8584C=) c.388C= (p.Gln130=) n.301C= c.-11+13242C= (n.-11+13242C=) c.151C= (p.Gln51=) c.445C= (p.Gln149=) | |
7 | g.50529276G>T | CA367526743 | DDC,FIGNL1 | c.502C>A (p.Gln168Lys) c.268C>A (p.Gln90Lys) c.213-996C>A c.435+8584C>A (n.435+8584C>A) c.388C>A (p.Gln130Lys) n.301C>A c.-11+13242C>A (n.-11+13242C>A) c.151C>A (p.Gln51Lys) c.445C>A (p.Gln149Lys) | |
7 | g.50529277C>A | CA454937530 | DDC,FIGNL1 | c.501G>T (p.Leu167=) c.267G>T (p.Leu89=) c.213-997G>T c.435+8583G>T (n.435+8583G>T) c.387G>T (p.Leu129=) n.300G>T c.-11+13241G>T (n.-11+13241G>T) c.150G>T (p.Leu50=) c.444G>T (p.Leu148=) | COSMIC |
7 | g.50529277C>G | CA454937531 | DDC,FIGNL1 | c.501G>C (p.Leu167=) c.267G>C (p.Leu89=) c.213-997G>C c.435+8583G>C (n.435+8583G>C) c.387G>C (p.Leu129=) n.300G>C c.-11+13241G>C (n.-11+13241G>C) c.150G>C (p.Leu50=) c.444G>C (p.Leu148=) | |
7 | g.50529277C>T | CA454937529 | DDC,FIGNL1 | c.501G>A (p.Leu167=) c.267G>A (p.Leu89=) c.213-997G>A c.435+8583G>A (n.435+8583G>A) c.387G>A (p.Leu129=) n.300G>A c.-11+13241G>A (n.-11+13241G>A) c.150G>A (p.Leu50=) c.444G>A (p.Leu148=) | |
7 | g.50529278A>C | CA367526745 | DDC,FIGNL1 | c.500T>G (p.Leu167Arg) c.266T>G (p.Leu89Arg) c.213-998T>G c.435+8582T>G (n.435+8582T>G) c.386T>G (p.Leu129Arg) n.299T>G c.-11+13240T>G (n.-11+13240T>G) c.149T>G (p.Leu50Arg) c.443T>G (p.Leu148Arg) | |
7 | g.50529278A>G | CA367526746 | DDC,FIGNL1 | c.500T>C (p.Leu167Pro) c.266T>C (p.Leu89Pro) c.213-998T>C c.435+8582T>C (n.435+8582T>C) c.386T>C (p.Leu129Pro) n.299T>C c.-11+13240T>C (n.-11+13240T>C) c.149T>C (p.Leu50Pro) c.443T>C (p.Leu148Pro) | |
7 | g.50529278A>T | CA367526747 | DDC,FIGNL1 | c.500T>A (p.Leu167Gln) c.266T>A (p.Leu89Gln) c.213-998T>A c.435+8582T>A (n.435+8582T>A) c.386T>A (p.Leu129Gln) n.299T>A c.-11+13240T>A (n.-11+13240T>A) c.149T>A (p.Leu50Gln) c.443T>A (p.Leu148Gln) | |
7 | g.50529279G>A | CA454937532 | DDC,FIGNL1 | c.499C>T (p.Leu167=) c.265C>T (p.Leu89=) c.213-999C>T c.435+8581C>T (n.435+8581C>T) c.385C>T (p.Leu129=) n.298C>T c.-11+13239C>T (n.-11+13239C>T) c.148C>T (p.Leu50=) c.442C>T (p.Leu148=) | |
7 | g.50529279G>C | CA367526748 | DDC,FIGNL1 | c.499C>G (p.Leu167Val) c.265C>G (p.Leu89Val) c.213-999C>G c.435+8581C>G (n.435+8581C>G) c.385C>G (p.Leu129Val) n.298C>G c.-11+13239C>G (n.-11+13239C>G) c.148C>G (p.Leu50Val) c.442C>G (p.Leu148Val) | |
7 | g.50529279G>T | CA367526749 | DDC,FIGNL1 | c.499C>A (p.Leu167Met) c.265C>A (p.Leu89Met) c.213-999C>A c.435+8581C>A (n.435+8581C>A) c.385C>A (p.Leu129Met) n.298C>A c.-11+13239C>A (n.-11+13239C>A) c.148C>A (p.Leu50Met) c.442C>A (p.Leu148Met) | |
7 | g.50529279_50529280delinsGC | CA1706649185 | DDC,FIGNL1 | c.498_499delinsGC (p.Arg166=) c.264_265delinsGC (p.Arg88=) c.213-1000_213-999delinsGC c.435+8580_435+8581delinsGC (n.435+8580_435+8581delinsGC) c.384_385delinsGC (p.Arg128=) n.297_298delinsGC c.-11+13238_-11+13239delinsGC (n.-11+13238_-11+13239delinsGC) c.147_148delinsGC (p.Arg49=) c.441_442delinsGC (p.Arg147=) | |
7 | g.50529280C>A | CA454937535 | DDC,FIGNL1 | c.498G>T (p.Arg166=) c.264G>T (p.Arg88=) c.213-1000G>T c.435+8580G>T (n.435+8580G>T) c.384G>T (p.Arg128=) n.297G>T c.-11+13238G>T (n.-11+13238G>T) c.147G>T (p.Arg49=) c.441G>T (p.Arg147=) | |
7 | g.50529280C>G | CA454937533 | DDC,FIGNL1 | c.498G>C (p.Arg166=) c.264G>C (p.Arg88=) c.213-1000G>C c.435+8580G>C (n.435+8580G>C) c.384G>C (p.Arg128=) n.297G>C c.-11+13238G>C (n.-11+13238G>C) c.147G>C (p.Arg49=) c.441G>C (p.Arg147=) | |
7 | g.50529280C>T | CA454937534 | DDC,FIGNL1 | c.498G>A (p.Arg166=) c.264G>A (p.Arg88=) c.213-1000G>A c.435+8580G>A (n.435+8580G>A) c.384G>A (p.Arg128=) n.297G>A c.-11+13238G>A (n.-11+13238G>A) c.147G>A (p.Arg49=) c.441G>A (p.Arg147=) | gnomAD v4 |
7 | g.50529281del | CA918003248 | DDC,FIGNL1 | c.498del (p.Leu167CysfsTer?) c.264del (p.Leu89CysfsTer?) c.213-1000del c.435+8580del (n.435+8580del) c.384del (p.Leu129CysfsTer?) n.297del c.-11+13238del (n.-11+13238del) c.147del (p.Leu50CysfsTer?) c.441del (p.Leu148CysfsTer?) | dbSNP |
7 | g.50529281C>A | CA367526750 | DDC,FIGNL1 | c.497G>T (p.Arg166Leu) c.263G>T (p.Arg88Leu) c.213-1001G>T c.435+8579G>T (n.435+8579G>T) c.383G>T (p.Arg128Leu) n.296G>T c.-11+13237G>T (n.-11+13237G>T) c.146G>T (p.Arg49Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
7 | g.50529281C= | CA1706649188 | DDC,FIGNL1 | c.497G= (p.Arg166=) c.263G= (p.Arg88=) c.213-1001G= c.435+8579G= (n.435+8579G=) c.383G= (p.Arg128=) n.296G= c.-11+13237G= (n.-11+13237G=) c.146G= (p.Arg49=) c.440G= (p.Arg147=) | |
7 | g.50529281C>G | CA4262351 | DDC,FIGNL1 | c.497G>C (p.Arg166Pro) c.263G>C (p.Arg88Pro) c.213-1001G>C c.435+8579G>C (n.435+8579G>C) c.383G>C (p.Arg128Pro) n.296G>C c.-11+13237G>C (n.-11+13237G>C) c.146G>C (p.Arg49Pro) c.440G>C (p.Arg147Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529281C>T | CA4262352 | DDC,FIGNL1 | c.497G>A (p.Arg166Gln) c.263G>A (p.Arg88Gln) c.213-1001G>A c.435+8579G>A (n.435+8579G>A) c.383G>A (p.Arg128Gln) n.296G>A c.-11+13237G>A (n.-11+13237G>A) c.146G>A (p.Arg49Gln) c.440G>A (p.Arg147Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529282G>A | CA4262353 | DDC,FIGNL1 | c.496C>T (p.Arg166Trp) c.262C>T (p.Arg88Trp) c.213-1002C>T c.435+8578C>T (n.435+8578C>T) c.382C>T (p.Arg128Trp) n.295C>T c.-11+13236C>T (n.-11+13236C>T) c.145C>T (p.Arg49Trp) c.439C>T (p.Arg147Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.50529282G>C | CA367526751 | DDC,FIGNL1 | c.496C>G (p.Arg166Gly) c.262C>G (p.Arg88Gly) c.213-1002C>G c.435+8578C>G (n.435+8578C>G) c.382C>G (p.Arg128Gly) n.295C>G c.-11+13236C>G (n.-11+13236C>G) c.145C>G (p.Arg49Gly) c.439C>G (p.Arg147Gly) | |
7 | g.50529282G= | CA1706649190 | DDC,FIGNL1 | c.496C= (p.Arg166=) c.262C= (p.Arg88=) c.213-1002C= c.435+8578C= (n.435+8578C=) c.382C= (p.Arg128=) n.295C= c.-11+13236C= (n.-11+13236C=) c.145C= (p.Arg49=) c.439C= (p.Arg147=) | |
7 | g.50529282G>T | CA454937536 | DDC,FIGNL1 | c.496C>A (p.Arg166=) c.262C>A (p.Arg88=) c.213-1002C>A c.435+8578C>A (n.435+8578C>A) c.382C>A (p.Arg128=) n.295C>A c.-11+13236C>A (n.-11+13236C>A) c.145C>A (p.Arg49=) c.439C>A (p.Arg147=) | dbSNP |
7 | g.50529283A>C | CA367526752 | DDC,FIGNL1 | c.495T>G (p.His165Gln) c.261T>G (p.His87Gln) c.213-1003T>G c.435+8577T>G (n.435+8577T>G) c.381T>G (p.His127Gln) n.294T>G c.-11+13235T>G (n.-11+13235T>G) c.144T>G (p.His48Gln) c.438T>G (p.His146Gln) | |
7 | g.50529283A>G | CA454937537 | DDC,FIGNL1 | c.495T>C (p.His165=) c.261T>C (p.His87=) c.213-1003T>C c.435+8577T>C (n.435+8577T>C) c.381T>C (p.His127=) n.294T>C c.-11+13235T>C (n.-11+13235T>C) c.144T>C (p.His48=) c.438T>C (p.His146=) | |
7 | g.50529283A>T | CA367526753 | DDC,FIGNL1 | c.495T>A (p.His165Gln) c.261T>A (p.His87Gln) c.213-1003T>A c.435+8577T>A (n.435+8577T>A) c.381T>A (p.His127Gln) n.294T>A c.-11+13235T>A (n.-11+13235T>A) c.144T>A (p.His48Gln) c.438T>A (p.His146Gln) | |
7 | g.50529284T>A | CA367526754 | DDC,FIGNL1 | c.494A>T (p.His165Leu) c.260A>T (p.His87Leu) c.213-1004A>T c.435+8576A>T (n.435+8576A>T) c.380A>T (p.His127Leu) n.293A>T c.-11+13234A>T (n.-11+13234A>T) c.143A>T (p.His48Leu) c.437A>T (p.His146Leu) | |
7 | g.50529284T>C | CA367526756 | DDC,FIGNL1 | c.494A>G (p.His165Arg) c.260A>G (p.His87Arg) c.213-1004A>G c.435+8576A>G (n.435+8576A>G) c.380A>G (p.His127Arg) n.293A>G c.-11+13234A>G (n.-11+13234A>G) c.143A>G (p.His48Arg) c.437A>G (p.His146Arg) | ClinVar |
7 | g.50529284T>G | CA367526755 | DDC,FIGNL1 | c.494A>C (p.His165Pro) c.260A>C (p.His87Pro) c.213-1004A>C c.435+8576A>C (n.435+8576A>C) c.380A>C (p.His127Pro) n.293A>C c.-11+13234A>C (n.-11+13234A>C) c.143A>C (p.His48Pro) c.437A>C (p.His146Pro) | |
7 | g.50529285G>A | CA367526757 | DDC,FIGNL1 | c.493C>T (p.His165Tyr) c.259C>T (p.His87Tyr) c.213-1005C>T c.435+8575C>T (n.435+8575C>T) c.379C>T (p.His127Tyr) n.292C>T c.-11+13233C>T (n.-11+13233C>T) c.142C>T (p.His48Tyr) c.436C>T (p.His146Tyr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.50529285G>C | CA367526758 | DDC,FIGNL1 | c.493C>G (p.His165Asp) c.259C>G (p.His87Asp) c.213-1005C>G c.435+8575C>G (n.435+8575C>G) c.379C>G (p.His127Asp) n.292C>G c.-11+13233C>G (n.-11+13233C>G) c.142C>G (p.His48Asp) c.436C>G (p.His146Asp) | |
7 | g.50529285G= | CA1706649191 | DDC,FIGNL1 | c.493C= (p.His165=) c.259C= (p.His87=) c.213-1005C= c.435+8575C= (n.435+8575C=) c.379C= (p.His127=) n.292C= c.-11+13233C= (n.-11+13233C=) c.142C= (p.His48=) c.436C= (p.His146=) | |
7 | g.50529285G>T | CA367526759 | DDC,FIGNL1 | c.493C>A (p.His165Asn) c.259C>A (p.His87Asn) c.213-1005C>A c.435+8575C>A (n.435+8575C>A) c.379C>A (p.His127Asn) n.292C>A c.-11+13233C>A (n.-11+13233C>A) c.142C>A (p.His48Asn) c.436C>A (p.His146Asn) | |
7 | g.50529286del | CA2682812979 | DDC,FIGNL1 | c.493del (p.His165IlefsTer?) c.259del (p.His87IlefsTer?) c.213-1005del c.435+8575del (n.435+8575del) c.379del (p.His127IlefsTer?) n.292del c.-11+13233del (n.-11+13233del) c.142del (p.His48IlefsTer?) c.436del (p.His146IlefsTer?) | gnomAD v4 |
7 | g.50529286G>A | CA454937538 | DDC,FIGNL1 | c.492C>T (p.Ile164=) c.258C>T (p.Ile86=) c.213-1006C>T c.435+8574C>T (n.435+8574C>T) c.378C>T (p.Ile126=) n.291C>T c.-11+13232C>T (n.-11+13232C>T) c.141C>T (p.Ile47=) c.435C>T (p.Ile145=) | |
7 | g.50529286G>C | CA367526760 | DDC,FIGNL1 | c.492C>G (p.Ile164Met) c.258C>G (p.Ile86Met) c.213-1006C>G c.435+8574C>G (n.435+8574C>G) c.378C>G (p.Ile126Met) n.291C>G c.-11+13232C>G (n.-11+13232C>G) c.141C>G (p.Ile47Met) c.435C>G (p.Ile145Met) | |
7 | g.50529286G>T | CA454937539 | DDC,FIGNL1 | c.492C>A (p.Ile164=) c.258C>A (p.Ile86=) c.213-1006C>A c.435+8574C>A (n.435+8574C>A) c.378C>A (p.Ile126=) n.291C>A c.-11+13232C>A (n.-11+13232C>A) c.141C>A (p.Ile47=) c.435C>A (p.Ile145=) | |
7 | g.50529287A= | CA1706649193 | DDC,FIGNL1 | c.491T= (p.Ile164=) c.257T= (p.Ile86=) c.213-1007T= c.435+8573T= (n.435+8573T=) c.377T= (p.Ile126=) n.290T= c.-11+13231T= (n.-11+13231T=) c.140T= (p.Ile47=) c.434T= (p.Ile145=) | |
7 | g.50529287A>C | CA367526761 | DDC,FIGNL1 | c.491T>G (p.Ile164Ser) c.257T>G (p.Ile86Ser) c.213-1007T>G c.435+8573T>G (n.435+8573T>G) c.377T>G (p.Ile126Ser) n.290T>G c.-11+13231T>G (n.-11+13231T>G) c.140T>G (p.Ile47Ser) c.434T>G (p.Ile145Ser) | |
7 | g.50529287A>G | CA367526762 | DDC,FIGNL1 | c.491T>C (p.Ile164Thr) c.257T>C (p.Ile86Thr) c.213-1007T>C c.435+8573T>C (n.435+8573T>C) c.377T>C (p.Ile126Thr) n.290T>C c.-11+13231T>C (n.-11+13231T>C) c.140T>C (p.Ile47Thr) c.434T>C (p.Ile145Thr) | dbSNP |
7 | g.50529287A>T | CA367526763 | DDC,FIGNL1 | c.491T>A (p.Ile164Asn) c.257T>A (p.Ile86Asn) c.213-1007T>A c.435+8573T>A (n.435+8573T>A) c.377T>A (p.Ile126Asn) n.290T>A c.-11+13231T>A (n.-11+13231T>A) c.140T>A (p.Ile47Asn) c.434T>A (p.Ile145Asn) | |
7 | g.50529288T>A | CA367526764 | DDC,FIGNL1 | c.490A>T (p.Ile164Phe) c.256A>T (p.Ile86Phe) c.213-1008A>T c.435+8572A>T (n.435+8572A>T) c.376A>T (p.Ile126Phe) n.289A>T c.-11+13230A>T (n.-11+13230A>T) c.139A>T (p.Ile47Phe) c.433A>T (p.Ile145Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.50529288T>C | CA367526765 | DDC,FIGNL1 | c.490A>G (p.Ile164Val) c.256A>G (p.Ile86Val) c.213-1008A>G c.435+8572A>G (n.435+8572A>G) c.376A>G (p.Ile126Val) n.289A>G c.-11+13230A>G (n.-11+13230A>G) c.139A>G (p.Ile47Val) c.433A>G (p.Ile145Val) | |
7 | g.50529288T>G | CA367526766 | DDC,FIGNL1 | c.490A>C (p.Ile164Leu) c.256A>C (p.Ile86Leu) c.213-1008A>C c.435+8572A>C (n.435+8572A>C) c.376A>C (p.Ile126Leu) n.289A>C c.-11+13230A>C (n.-11+13230A>C) c.139A>C (p.Ile47Leu) c.433A>C (p.Ile145Leu) | |
7 | g.50529288T= | CA1706649195 | DDC,FIGNL1 | c.490A= (p.Ile164=) c.256A= (p.Ile86=) c.213-1008A= c.435+8572A= (n.435+8572A=) c.376A= (p.Ile126=) n.289A= c.-11+13230A= (n.-11+13230A=) c.139A= (p.Ile47=) c.433A= (p.Ile145=) | |
7 | g.50529289C>A | CA454937540 | DDC,FIGNL1 | c.489G>T (p.Val163=) c.255G>T (p.Val85=) c.213-1009G>T c.435+8571G>T (n.435+8571G>T) c.375G>T (p.Val125=) n.288G>T c.-11+13229G>T (n.-11+13229G>T) c.138G>T (p.Val46=) c.432G>T (p.Val144=) | |
7 | g.50529289C>G | CA454937541 | DDC,FIGNL1 | c.489G>C (p.Val163=) c.255G>C (p.Val85=) c.213-1009G>C c.435+8571G>C (n.435+8571G>C) c.375G>C (p.Val125=) n.288G>C c.-11+13229G>C (n.-11+13229G>C) c.138G>C (p.Val46=) c.432G>C (p.Val144=) | |
7 | g.50529289C>T | CA454937542 | DDC,FIGNL1 | c.489G>A (p.Val163=) c.255G>A (p.Val85=) c.213-1009G>A c.435+8571G>A (n.435+8571G>A) c.375G>A (p.Val125=) n.288G>A c.-11+13229G>A (n.-11+13229G>A) c.138G>A (p.Val46=) c.432G>A (p.Val144=) | COSMIC COSMIC |
7 | g.50529290A>C | CA367526767 | DDC,FIGNL1 | c.488T>G (p.Val163Gly) c.254T>G (p.Val85Gly) c.213-1010T>G c.435+8570T>G (n.435+8570T>G) c.374T>G (p.Val125Gly) n.287T>G c.-11+13228T>G (n.-11+13228T>G) c.137T>G (p.Val46Gly) c.431T>G (p.Val144Gly) | |
7 | g.50529290A>G | CA367526768 | DDC,FIGNL1 | c.488T>C (p.Val163Ala) c.254T>C (p.Val85Ala) c.213-1010T>C c.435+8570T>C (n.435+8570T>C) c.374T>C (p.Val125Ala) n.287T>C c.-11+13228T>C (n.-11+13228T>C) c.137T>C (p.Val46Ala) c.431T>C (p.Val144Ala) | |
7 | g.50529290A>T | CA367526769 | DDC,FIGNL1 | c.488T>A (p.Val163Glu) c.254T>A (p.Val85Glu) c.213-1010T>A c.435+8570T>A (n.435+8570T>A) c.374T>A (p.Val125Glu) n.287T>A c.-11+13228T>A (n.-11+13228T>A) c.137T>A (p.Val46Glu) c.431T>A (p.Val144Glu) | |
7 | g.50529291C>A | CA367526772 | DDC,FIGNL1 | c.487G>T (p.Val163Leu) c.253G>T (p.Val85Leu) c.213-1011G>T c.435+8569G>T (n.435+8569G>T) c.373G>T (p.Val125Leu) n.286G>T c.-11+13227G>T (n.-11+13227G>T) c.136G>T (p.Val46Leu) c.430G>T (p.Val144Leu) | |
7 | g.50529291C>G | CA367526770 | DDC,FIGNL1 | c.487G>C (p.Val163Leu) c.253G>C (p.Val85Leu) c.213-1011G>C c.435+8569G>C (n.435+8569G>C) c.373G>C (p.Val125Leu) n.286G>C c.-11+13227G>C (n.-11+13227G>C) c.136G>C (p.Val46Leu) c.430G>C (p.Val144Leu) | |
7 | g.50529291C>T | CA367526771 | DDC,FIGNL1 | c.487G>A (p.Val163Met) c.253G>A (p.Val85Met) c.213-1011G>A c.435+8569G>A (n.435+8569G>A) c.373G>A (p.Val125Met) n.286G>A c.-11+13227G>A (n.-11+13227G>A) c.136G>A (p.Val46Met) c.430G>A (p.Val144Met) | gnomAD v4 |
7 | g.50529292T>A | CA367526773 | DDC,FIGNL1 | c.486A>T (p.Lys162Asn) c.252A>T (p.Lys84Asn) c.213-1012A>T c.435+8568A>T (n.435+8568A>T) c.372A>T (p.Lys124Asn) n.285A>T c.-11+13226A>T (n.-11+13226A>T) c.135A>T (p.Lys45Asn) c.429A>T (p.Lys143Asn) | |
7 | g.50529292T>C | CA454937543 | DDC,FIGNL1 | c.486A>G (p.Lys162=) c.252A>G (p.Lys84=) c.213-1012A>G c.435+8568A>G (n.435+8568A>G) c.372A>G (p.Lys124=) n.285A>G c.-11+13226A>G (n.-11+13226A>G) c.135A>G (p.Lys45=) c.429A>G (p.Lys143=) | |
7 | g.50529292T>G | CA4262354 | DDC,FIGNL1 | c.486A>C (p.Lys162Asn) c.252A>C (p.Lys84Asn) c.213-1012A>C c.435+8568A>C (n.435+8568A>C) c.372A>C (p.Lys124Asn) n.285A>C c.-11+13226A>C (n.-11+13226A>C) c.135A>C (p.Lys45Asn) c.429A>C (p.Lys143Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529292T= | CA1706649197 | DDC,FIGNL1 | c.486A= (p.Lys162=) c.252A= (p.Lys84=) c.213-1012A= c.435+8568A= (n.435+8568A=) c.372A= (p.Lys124=) n.285A= c.-11+13226A= (n.-11+13226A=) c.135A= (p.Lys45=) c.429A= (p.Lys143=) | |
7 | g.50529293T>A | CA367526774 | DDC,FIGNL1 | c.485A>T (p.Lys162Ile) c.251A>T (p.Lys84Ile) c.213-1013A>T c.435+8567A>T (n.435+8567A>T) c.371A>T (p.Lys124Ile) n.284A>T c.-11+13225A>T (n.-11+13225A>T) c.134A>T (p.Lys45Ile) c.428A>T (p.Lys143Ile) | |
7 | g.50529293T>C | CA158232914 | DDC,FIGNL1 | c.485A>G (p.Lys162Arg) c.251A>G (p.Lys84Arg) c.213-1013A>G c.435+8567A>G (n.435+8567A>G) c.371A>G (p.Lys124Arg) n.284A>G c.-11+13225A>G (n.-11+13225A>G) c.134A>G (p.Lys45Arg) c.428A>G (p.Lys143Arg) | dbSNP |
7 | g.50529293T>G | CA367526775 | DDC,FIGNL1 | c.485A>C (p.Lys162Thr) c.251A>C (p.Lys84Thr) c.213-1013A>C c.435+8567A>C (n.435+8567A>C) c.371A>C (p.Lys124Thr) n.284A>C c.-11+13225A>C (n.-11+13225A>C) c.134A>C (p.Lys45Thr) c.428A>C (p.Lys143Thr) | ClinVar gnomAD v4 |
7 | g.50529293T= | CA1706649199 | DDC,FIGNL1 | c.485A= (p.Lys162=) c.251A= (p.Lys84=) c.213-1013A= c.435+8567A= (n.435+8567A=) c.371A= (p.Lys124=) n.284A= c.-11+13225A= (n.-11+13225A=) c.134A= (p.Lys45=) c.428A= (p.Lys143=) | |
7 | g.50529294T>A | CA367526776 | DDC,FIGNL1 | c.484A>T (p.Lys162Ter) c.250A>T (p.Lys84Ter) c.213-1014A>T c.435+8566A>T (n.435+8566A>T) c.370A>T (p.Lys124Ter) n.283A>T c.-11+13224A>T (n.-11+13224A>T) c.133A>T (p.Lys45Ter) c.427A>T (p.Lys143Ter) | |
7 | g.50529294T>C | CA367526777 | DDC,FIGNL1 | c.484A>G (p.Lys162Glu) c.250A>G (p.Lys84Glu) c.213-1014A>G c.435+8566A>G (n.435+8566A>G) c.370A>G (p.Lys124Glu) n.283A>G c.-11+13224A>G (n.-11+13224A>G) c.133A>G (p.Lys45Glu) c.427A>G (p.Lys143Glu) | dbSNP |
7 | g.50529294T>G | CA367526778 | DDC,FIGNL1 | c.484A>C (p.Lys162Gln) c.250A>C (p.Lys84Gln) c.213-1014A>C c.435+8566A>C (n.435+8566A>C) c.370A>C (p.Lys124Gln) n.283A>C c.-11+13224A>C (n.-11+13224A>C) c.133A>C (p.Lys45Gln) c.427A>C (p.Lys143Gln) | |
7 | g.50529294T= | CA1706649202 | DDC,FIGNL1 | c.484A= (p.Lys162=) c.250A= (p.Lys84=) c.213-1014A= c.435+8566A= (n.435+8566A=) c.370A= (p.Lys124=) n.283A= c.-11+13224A= (n.-11+13224A=) c.133A= (p.Lys45=) c.427A= (p.Lys143=) | |
7 | g.50529295G>A | CA454937544 | DDC,FIGNL1 | c.483C>T (p.Thr161=) c.249C>T (p.Thr83=) c.213-1015C>T c.435+8565C>T (n.435+8565C>T) c.369C>T (p.Thr123=) n.282C>T c.-11+13223C>T (n.-11+13223C>T) c.132C>T (p.Thr44=) c.426C>T (p.Thr142=) | |
7 | g.50529295G>C | CA454937545 | DDC,FIGNL1 | c.483C>G (p.Thr161=) c.249C>G (p.Thr83=) c.213-1015C>G c.435+8565C>G (n.435+8565C>G) c.369C>G (p.Thr123=) n.282C>G c.-11+13223C>G (n.-11+13223C>G) c.132C>G (p.Thr44=) c.426C>G (p.Thr142=) | |
7 | g.50529295G>T | CA454937546 | DDC,FIGNL1 | c.483C>A (p.Thr161=) c.249C>A (p.Thr83=) c.213-1015C>A c.435+8565C>A (n.435+8565C>A) c.369C>A (p.Thr123=) n.282C>A c.-11+13223C>A (n.-11+13223C>A) c.132C>A (p.Thr44=) c.426C>A (p.Thr142=) | ClinVar dbSNP |
7 | g.50529296G>A | CA158232915 | DDC,FIGNL1 | c.482C>T (p.Thr161Ile) c.248C>T (p.Thr83Ile) c.213-1016C>T c.435+8564C>T (n.435+8564C>T) c.368C>T (p.Thr123Ile) n.281C>T c.-11+13222C>T (n.-11+13222C>T) c.131C>T (p.Thr44Ile) c.425C>T (p.Thr142Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529296G>C | CA367526779 | DDC,FIGNL1 | c.482C>G (p.Thr161Ser) c.248C>G (p.Thr83Ser) c.213-1016C>G c.435+8564C>G (n.435+8564C>G) c.368C>G (p.Thr123Ser) n.281C>G c.-11+13222C>G (n.-11+13222C>G) c.131C>G (p.Thr44Ser) c.425C>G (p.Thr142Ser) | |
7 | g.50529296G= | CA1706649204 | DDC,FIGNL1 | c.482C= (p.Thr161=) c.248C= (p.Thr83=) c.213-1016C= c.435+8564C= (n.435+8564C=) c.368C= (p.Thr123=) n.281C= c.-11+13222C= (n.-11+13222C=) c.131C= (p.Thr44=) c.425C= (p.Thr142=) | |
7 | g.50529296G>T | CA367526780 | DDC,FIGNL1 | c.482C>A (p.Thr161Asn) c.248C>A (p.Thr83Asn) c.213-1016C>A c.435+8564C>A (n.435+8564C>A) c.368C>A (p.Thr123Asn) n.281C>A c.-11+13222C>A (n.-11+13222C>A) c.131C>A (p.Thr44Asn) c.425C>A (p.Thr142Asn) | |
7 | g.50529297T>A | CA367526781 | DDC,FIGNL1 | c.481A>T (p.Thr161Ser) c.247A>T (p.Thr83Ser) c.213-1017A>T c.435+8563A>T (n.435+8563A>T) c.367A>T (p.Thr123Ser) n.280A>T c.-11+13221A>T (n.-11+13221A>T) c.130A>T (p.Thr44Ser) c.424A>T (p.Thr142Ser) | |
7 | g.50529297T>C | CA367526783 | DDC,FIGNL1 | c.481A>G (p.Thr161Ala) c.247A>G (p.Thr83Ala) c.213-1017A>G c.435+8563A>G (n.435+8563A>G) c.367A>G (p.Thr123Ala) n.280A>G c.-11+13221A>G (n.-11+13221A>G) c.130A>G (p.Thr44Ala) c.424A>G (p.Thr142Ala) | |
7 | g.50529297T>G | CA367526782 | DDC,FIGNL1 | c.481A>C (p.Thr161Pro) c.247A>C (p.Thr83Pro) c.213-1017A>C c.435+8563A>C (n.435+8563A>C) c.367A>C (p.Thr123Pro) n.280A>C c.-11+13221A>C (n.-11+13221A>C) c.130A>C (p.Thr44Pro) c.424A>C (p.Thr142Pro) | |
7 | g.50529297_50529298delinsTC | CA1706649206 | DDC,FIGNL1 | c.480_481delinsGA (p.Arg160=) c.246_247delinsGA (p.Arg82=) c.213-1018_213-1017delinsGA c.435+8562_435+8563delinsGA (n.435+8562_435+8563delinsGA) c.366_367delinsGA (p.Arg122=) n.279_280delinsGA c.-11+13220_-11+13221delinsGA (n.-11+13220_-11+13221delinsGA) c.129_130delinsGA (p.Arg43=) c.423_424delinsGA (p.Arg141=) | |
7 | g.50529298C>A | CA454937549 | DDC,FIGNL1 | c.480G>T (p.Arg160=) c.246G>T (p.Arg82=) c.213-1018G>T c.435+8562G>T (n.435+8562G>T) c.366G>T (p.Arg122=) n.279G>T c.-11+13220G>T (n.-11+13220G>T) c.129G>T (p.Arg43=) c.423G>T (p.Arg141=) | dbSNP gnomAD v4 |
7 | g.50529298C= | CA1706649208 | DDC,FIGNL1 | c.480G= (p.Arg160=) c.246G= (p.Arg82=) c.213-1018G= c.435+8562G= (n.435+8562G=) c.366G= (p.Arg122=) n.279G= c.-11+13220G= (n.-11+13220G=) c.129G= (p.Arg43=) c.423G= (p.Arg141=) | |
7 | g.50529298C>G | CA454937548 | DDC,FIGNL1 | c.480G>C (p.Arg160=) c.246G>C (p.Arg82=) c.213-1018G>C c.435+8562G>C (n.435+8562G>C) c.366G>C (p.Arg122=) n.279G>C c.-11+13220G>C (n.-11+13220G>C) c.129G>C (p.Arg43=) c.423G>C (p.Arg141=) | |
7 | g.50529298C>T | CA454937547 | DDC,FIGNL1 | c.480G>A (p.Arg160=) c.246G>A (p.Arg82=) c.213-1018G>A c.435+8562G>A (n.435+8562G>A) c.366G>A (p.Arg122=) n.279G>A c.-11+13220G>A (n.-11+13220G>A) c.129G>A (p.Arg43=) c.423G>A (p.Arg141=) | COSMIC COSMIC |
7 | g.50529299del | CA1139771368 | DDC,FIGNL1 | c.480del (p.Thr161ProfsTer3) c.246del (p.Thr83ProfsTer3) c.213-1018del c.435+8562del (n.435+8562del) c.366del (p.Thr123ProfsTer3) n.279del c.-11+13220del (n.-11+13220del) c.129del (p.Thr44ProfsTer3) c.423del (p.Thr142ProfsTer3) | ClinVar dbSNP |
7 | g.50529299C>A | CA367526784 | DDC,FIGNL1 | c.479G>T (p.Arg160Leu) c.245G>T (p.Arg82Leu) c.213-1019G>T c.435+8561G>T (n.435+8561G>T) c.365G>T (p.Arg122Leu) n.278G>T c.-11+13219G>T (n.-11+13219G>T) c.128G>T (p.Arg43Leu) c.422G>T (p.Arg141Leu) | |
7 | g.50529299C= | CA1706649210 | DDC,FIGNL1 | c.479G= (p.Arg160=) c.245G= (p.Arg82=) c.213-1019G= c.435+8561G= (n.435+8561G=) c.365G= (p.Arg122=) n.278G= c.-11+13219G= (n.-11+13219G=) c.128G= (p.Arg43=) c.422G= (p.Arg141=) | |
7 | g.50529299C>G | CA367526786 | DDC,FIGNL1 | c.479G>C (p.Arg160Pro) c.245G>C (p.Arg82Pro) c.213-1019G>C c.435+8561G>C (n.435+8561G>C) c.365G>C (p.Arg122Pro) n.278G>C c.-11+13219G>C (n.-11+13219G>C) c.128G>C (p.Arg43Pro) c.422G>C (p.Arg141Pro) | gnomAD v4 |
7 | g.50529299C>T | CA367526785 | DDC,FIGNL1 | c.479G>A (p.Arg160Gln) c.245G>A (p.Arg82Gln) c.213-1019G>A c.435+8561G>A (n.435+8561G>A) c.365G>A (p.Arg122Gln) n.278G>A c.-11+13219G>A (n.-11+13219G>A) c.128G>A (p.Arg43Gln) c.422G>A (p.Arg141Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529300G>A | CA10626215 | DDC,FIGNL1 | c.478C>T (p.Arg160Trp) c.244C>T (p.Arg82Trp) c.213-1020C>T c.435+8560C>T (n.435+8560C>T) c.364C>T (p.Arg122Trp) n.277C>T c.-11+13218C>T (n.-11+13218C>T) c.127C>T (p.Arg43Trp) c.421C>T (p.Arg141Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529300G>C | CA367526787 | DDC,FIGNL1 | c.478C>G (p.Arg160Gly) c.244C>G (p.Arg82Gly) c.213-1020C>G c.435+8560C>G (n.435+8560C>G) c.364C>G (p.Arg122Gly) n.277C>G c.-11+13218C>G (n.-11+13218C>G) c.127C>G (p.Arg43Gly) c.421C>G (p.Arg141Gly) | gnomAD v4 |
7 | g.50529300G= | CA1706649213 | DDC,FIGNL1 | c.478C= (p.Arg160=) c.244C= (p.Arg82=) c.213-1020C= c.435+8560C= (n.435+8560C=) c.364C= (p.Arg122=) n.277C= c.-11+13218C= (n.-11+13218C=) c.127C= (p.Arg43=) c.421C= (p.Arg141=) | |
7 | g.50529300G>T | CA454937550 | DDC,FIGNL1 | c.478C>A (p.Arg160=) c.244C>A (p.Arg82=) c.213-1020C>A c.435+8560C>A (n.435+8560C>A) c.364C>A (p.Arg122=) n.277C>A c.-11+13218C>A (n.-11+13218C>A) c.127C>A (p.Arg43=) c.421C>A (p.Arg141=) | dbSNP |
7 | g.50529301A>C | CA454937551 | DDC,FIGNL1 | c.477T>G (p.Ala159=) c.243T>G (p.Ala81=) c.213-1021T>G c.435+8559T>G (n.435+8559T>G) c.363T>G (p.Ala121=) n.276T>G c.-11+13217T>G (n.-11+13217T>G) c.126T>G (p.Ala42=) c.420T>G (p.Ala140=) | |
7 | g.50529301A>G | CA454937553 | DDC,FIGNL1 | c.477T>C (p.Ala159=) c.243T>C (p.Ala81=) c.213-1021T>C c.435+8559T>C (n.435+8559T>C) c.363T>C (p.Ala121=) n.276T>C c.-11+13217T>C (n.-11+13217T>C) c.126T>C (p.Ala42=) c.420T>C (p.Ala140=) | gnomAD v4 |
7 | g.50529301A>T | CA454937552 | DDC,FIGNL1 | c.477T>A (p.Ala159=) c.243T>A (p.Ala81=) c.213-1021T>A c.435+8559T>A (n.435+8559T>A) c.363T>A (p.Ala121=) n.276T>A c.-11+13217T>A (n.-11+13217T>A) c.126T>A (p.Ala42=) c.420T>A (p.Ala140=) | |
7 | g.50529302G>A | CA4262355 | DDC,FIGNL1 | c.476C>T (p.Ala159Val) c.242C>T (p.Ala81Val) c.213-1022C>T c.435+8558C>T (n.435+8558C>T) c.362C>T (p.Ala121Val) n.275C>T c.-11+13216C>T (n.-11+13216C>T) c.125C>T (p.Ala42Val) c.419C>T (p.Ala140Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529302G>C | CA367526788 | DDC,FIGNL1 | c.476C>G (p.Ala159Gly) c.242C>G (p.Ala81Gly) c.213-1022C>G c.435+8558C>G (n.435+8558C>G) c.362C>G (p.Ala121Gly) n.275C>G c.-11+13216C>G (n.-11+13216C>G) c.125C>G (p.Ala42Gly) c.419C>G (p.Ala140Gly) | gnomAD v4 |
7 | g.50529302G= | CA1706649217 | DDC,FIGNL1 | c.476C= (p.Ala159=) c.242C= (p.Ala81=) c.213-1022C= c.435+8558C= (n.435+8558C=) c.362C= (p.Ala121=) n.275C= c.-11+13216C= (n.-11+13216C=) c.125C= (p.Ala42=) c.419C= (p.Ala140=) | |
7 | g.50529302G>T | CA367526789 | DDC,FIGNL1 | c.476C>A (p.Ala159Asp) c.242C>A (p.Ala81Asp) c.213-1022C>A c.435+8558C>A (n.435+8558C>A) c.362C>A (p.Ala121Asp) n.275C>A c.-11+13216C>A (n.-11+13216C>A) c.125C>A (p.Ala42Asp) c.419C>A (p.Ala140Asp) | |
7 | g.50529303C>A | CA4262356 | DDC,FIGNL1 | c.475G>T (p.Ala159Ser) c.241G>T (p.Ala81Ser) c.213-1023G>T c.435+8557G>T (n.435+8557G>T) c.361G>T (p.Ala121Ser) n.274G>T c.-11+13215G>T (n.-11+13215G>T) c.124G>T (p.Ala42Ser) c.418G>T (p.Ala140Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529303C= | CA1706649220 | DDC,FIGNL1 | c.475G= (p.Ala159=) c.241G= (p.Ala81=) c.213-1023G= c.435+8557G= (n.435+8557G=) c.361G= (p.Ala121=) n.274G= c.-11+13215G= (n.-11+13215G=) c.124G= (p.Ala42=) c.418G= (p.Ala140=) | |
7 | g.50529303C>G | CA367526790 | DDC,FIGNL1 | c.475G>C (p.Ala159Pro) c.241G>C (p.Ala81Pro) c.213-1023G>C c.435+8557G>C (n.435+8557G>C) c.361G>C (p.Ala121Pro) n.274G>C c.-11+13215G>C (n.-11+13215G>C) c.124G>C (p.Ala42Pro) c.418G>C (p.Ala140Pro) | |
7 | g.50529303C>T | CA367526791 | DDC,FIGNL1 | c.475G>A (p.Ala159Thr) c.241G>A (p.Ala81Thr) c.213-1023G>A c.435+8557G>A (n.435+8557G>A) c.361G>A (p.Ala121Thr) n.274G>A c.-11+13215G>A (n.-11+13215G>A) c.124G>A (p.Ala42Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529304G>A | CA4262357 | DDC,FIGNL1 | c.474C>T (p.Ala158=) c.240C>T (p.Ala80=) c.213-1024C>T c.435+8556C>T (n.435+8556C>T) c.360C>T (p.Ala120=) n.273C>T c.-11+13214C>T (n.-11+13214C>T) c.123C>T (p.Ala41=) c.417C>T (p.Ala139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529304G>C | CA454937555 | DDC,FIGNL1 | c.474C>G (p.Ala158=) c.240C>G (p.Ala80=) c.213-1024C>G c.435+8556C>G (n.435+8556C>G) c.360C>G (p.Ala120=) n.273C>G c.-11+13214C>G (n.-11+13214C>G) c.123C>G (p.Ala41=) c.417C>G (p.Ala139=) | gnomAD v4 |
7 | g.50529304G= | CA1706649222 | DDC,FIGNL1 | c.474C= (p.Ala158=) c.240C= (p.Ala80=) c.213-1024C= c.435+8556C= (n.435+8556C=) c.360C= (p.Ala120=) n.273C= c.-11+13214C= (n.-11+13214C=) c.123C= (p.Ala41=) c.417C= (p.Ala139=) | |
7 | g.50529304G>T | CA454937554 | DDC,FIGNL1 | c.474C>A (p.Ala158=) c.240C>A (p.Ala80=) c.213-1024C>A c.435+8556C>A (n.435+8556C>A) c.360C>A (p.Ala120=) n.273C>A c.-11+13214C>A (n.-11+13214C>A) c.123C>A (p.Ala41=) c.417C>A (p.Ala139=) | |
7 | g.50529305G>A | CA367526792 | DDC,FIGNL1 | c.473C>T (p.Ala158Val) c.239C>T (p.Ala80Val) c.213-1025C>T c.435+8555C>T (n.435+8555C>T) c.359C>T (p.Ala120Val) n.272C>T c.-11+13213C>T (n.-11+13213C>T) c.122C>T (p.Ala41Val) c.416C>T (p.Ala139Val) | gnomAD v4 |
7 | g.50529305G>C | CA367526793 | DDC,FIGNL1 | c.473C>G (p.Ala158Gly) c.239C>G (p.Ala80Gly) c.213-1025C>G c.435+8555C>G (n.435+8555C>G) c.359C>G (p.Ala120Gly) n.272C>G c.-11+13213C>G (n.-11+13213C>G) c.122C>G (p.Ala41Gly) c.416C>G (p.Ala139Gly) | |
7 | g.50529305G>T | CA367526794 | DDC,FIGNL1 | c.473C>A (p.Ala158Asp) c.239C>A (p.Ala80Asp) c.213-1025C>A c.435+8555C>A (n.435+8555C>A) c.359C>A (p.Ala120Asp) n.272C>A c.-11+13213C>A (n.-11+13213C>A) c.122C>A (p.Ala41Asp) c.416C>A (p.Ala139Asp) | |
7 | g.50529306C>A | CA367526797 | DDC,FIGNL1 | c.472G>T (p.Ala158Ser) c.238G>T (p.Ala80Ser) c.213-1026G>T c.435+8554G>T (n.435+8554G>T) c.358G>T (p.Ala120Ser) n.271G>T c.-11+13212G>T (n.-11+13212G>T) c.121G>T (p.Ala41Ser) c.415G>T (p.Ala139Ser) | gnomAD v4 |
7 | g.50529306C>G | CA367526796 | DDC,FIGNL1 | c.472G>C (p.Ala158Pro) c.238G>C (p.Ala80Pro) c.213-1026G>C c.435+8554G>C (n.435+8554G>C) c.358G>C (p.Ala120Pro) n.271G>C c.-11+13212G>C (n.-11+13212G>C) c.121G>C (p.Ala41Pro) c.415G>C (p.Ala139Pro) | |
7 | g.50529306C>T | CA367526795 | DDC,FIGNL1 | c.472G>A (p.Ala158Thr) c.238G>A (p.Ala80Thr) c.213-1026G>A c.435+8554G>A (n.435+8554G>A) c.358G>A (p.Ala120Thr) n.271G>A c.-11+13212G>A (n.-11+13212G>A) c.121G>A (p.Ala41Thr) c.415G>A (p.Ala139Thr) | gnomAD v4 |
7 | g.50529307C>A | CA454937556 | DDC,FIGNL1 | c.471G>T (p.Leu157=) c.237G>T (p.Leu79=) c.213-1027G>T c.435+8553G>T (n.435+8553G>T) c.357G>T (p.Leu119=) n.270G>T c.-11+13211G>T (n.-11+13211G>T) c.120G>T (p.Leu40=) c.414G>T (p.Leu138=) | gnomAD v4 |
7 | g.50529307C>G | CA454937558 | DDC,FIGNL1 | c.471G>C (p.Leu157=) c.237G>C (p.Leu79=) c.213-1027G>C c.435+8553G>C (n.435+8553G>C) c.357G>C (p.Leu119=) n.270G>C c.-11+13211G>C (n.-11+13211G>C) c.120G>C (p.Leu40=) c.414G>C (p.Leu138=) | |
7 | g.50529307C>T | CA454937557 | DDC,FIGNL1 | c.471G>A (p.Leu157=) c.237G>A (p.Leu79=) c.213-1027G>A c.435+8553G>A (n.435+8553G>A) c.357G>A (p.Leu119=) n.270G>A c.-11+13211G>A (n.-11+13211G>A) c.120G>A (p.Leu40=) c.414G>A (p.Leu138=) | |
7 | g.50529308A>C | CA367526798 | DDC,FIGNL1 | c.470T>G (p.Leu157Arg) c.236T>G (p.Leu79Arg) c.213-1028T>G c.435+8552T>G (n.435+8552T>G) c.356T>G (p.Leu119Arg) n.269T>G c.-11+13210T>G (n.-11+13210T>G) c.119T>G (p.Leu40Arg) c.413T>G (p.Leu138Arg) | |
7 | g.50529308A>G | CA367526799 | DDC,FIGNL1 | c.470T>C (p.Leu157Pro) c.236T>C (p.Leu79Pro) c.213-1028T>C c.435+8552T>C (n.435+8552T>C) c.356T>C (p.Leu119Pro) n.269T>C c.-11+13210T>C (n.-11+13210T>C) c.119T>C (p.Leu40Pro) c.413T>C (p.Leu138Pro) | |
7 | g.50529308A>T | CA367526800 | DDC,FIGNL1 | c.470T>A (p.Leu157Gln) c.236T>A (p.Leu79Gln) c.213-1028T>A c.435+8552T>A (n.435+8552T>A) c.356T>A (p.Leu119Gln) n.269T>A c.-11+13210T>A (n.-11+13210T>A) c.119T>A (p.Leu40Gln) c.413T>A (p.Leu138Gln) | |
7 | g.50529309G>A | CA158232916 | DDC,FIGNL1 | c.469C>T (p.Leu157=) c.235C>T (p.Leu79=) c.213-1029C>T c.435+8551C>T (n.435+8551C>T) c.355C>T (p.Leu119=) n.268C>T c.-11+13209C>T (n.-11+13209C>T) c.118C>T (p.Leu40=) c.412C>T (p.Leu138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.50529309G>C | CA367526801 | DDC,FIGNL1 | c.469C>G (p.Leu157Val) c.235C>G (p.Leu79Val) c.213-1029C>G c.435+8551C>G (n.435+8551C>G) c.355C>G (p.Leu119Val) n.268C>G c.-11+13209C>G (n.-11+13209C>G) c.118C>G (p.Leu40Val) c.412C>G (p.Leu138Val) | |
7 | g.50529309G= | CA1706649225 | DDC,FIGNL1 | c.469C= (p.Leu157=) c.235C= (p.Leu79=) c.213-1029C= c.435+8551C= (n.435+8551C=) c.355C= (p.Leu119=) n.268C= c.-11+13209C= (n.-11+13209C=) c.118C= (p.Leu40=) c.412C= (p.Leu138=) | |
7 | g.50529309G>T | CA367526802 | DDC,FIGNL1 | c.469C>A (p.Leu157Met) c.235C>A (p.Leu79Met) c.213-1029C>A c.435+8551C>A (n.435+8551C>A) c.355C>A (p.Leu119Met) n.268C>A c.-11+13209C>A (n.-11+13209C>A) c.118C>A (p.Leu40Met) c.412C>A (p.Leu138Met) | gnomAD v4 |
7 | g.50529310C>A | CA4262358 | DDC,FIGNL1 | c.468G>T (p.Leu156=) c.234G>T (p.Leu78=) c.213-1030G>T c.435+8550G>T (n.435+8550G>T) c.354G>T (p.Leu118=) n.267G>T c.-11+13208G>T (n.-11+13208G>T) c.117G>T (p.Leu39=) c.411G>T (p.Leu137=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529310C= | CA1706649227 | DDC,FIGNL1 | c.468G= (p.Leu156=) c.234G= (p.Leu78=) c.213-1030G= c.435+8550G= (n.435+8550G=) c.354G= (p.Leu118=) n.267G= c.-11+13208G= (n.-11+13208G=) c.117G= (p.Leu39=) c.411G= (p.Leu137=) | |
7 | g.50529310C>G | CA454937559 | DDC,FIGNL1 | c.468G>C (p.Leu156=) c.234G>C (p.Leu78=) c.213-1030G>C c.435+8550G>C (n.435+8550G>C) c.354G>C (p.Leu118=) n.267G>C c.-11+13208G>C (n.-11+13208G>C) c.117G>C (p.Leu39=) c.411G>C (p.Leu137=) | |
7 | g.50529310C>T | CA454937560 | DDC,FIGNL1 | c.468G>A (p.Leu156=) c.234G>A (p.Leu78=) c.213-1030G>A c.435+8550G>A (n.435+8550G>A) c.354G>A (p.Leu118=) n.267G>A c.-11+13208G>A (n.-11+13208G>A) c.117G>A (p.Leu39=) c.411G>A (p.Leu137=) | dbSNP gnomAD v4 |
7 | g.50529311A>C | CA367526803 | DDC,FIGNL1 | c.467T>G (p.Leu156Arg) c.233T>G (p.Leu78Arg) c.213-1031T>G c.435+8549T>G (n.435+8549T>G) c.353T>G (p.Leu118Arg) n.266T>G c.-11+13207T>G (n.-11+13207T>G) c.116T>G (p.Leu39Arg) c.410T>G (p.Leu137Arg) | |
7 | g.50529311A>G | CA367526804 | DDC,FIGNL1 | c.467T>C (p.Leu156Pro) c.233T>C (p.Leu78Pro) c.213-1031T>C c.435+8549T>C (n.435+8549T>C) c.353T>C (p.Leu118Pro) n.266T>C c.-11+13207T>C (n.-11+13207T>C) c.116T>C (p.Leu39Pro) c.410T>C (p.Leu137Pro) | |
7 | g.50529311A>T | CA367526805 | DDC,FIGNL1 | c.467T>A (p.Leu156Gln) c.233T>A (p.Leu78Gln) c.213-1031T>A c.435+8549T>A (n.435+8549T>A) c.353T>A (p.Leu118Gln) n.266T>A c.-11+13207T>A (n.-11+13207T>A) c.116T>A (p.Leu39Gln) c.410T>A (p.Leu137Gln) | |
7 | g.50529311_50529312delinsAG | CA1706649229 | DDC,FIGNL1 | c.466_467delinsCT (p.Leu156=) c.232_233delinsCT (p.Leu78=) c.213-1032_213-1031delinsCT c.435+8548_435+8549delinsCT (n.435+8548_435+8549delinsCT) c.352_353delinsCT (p.Leu118=) n.265_266delinsCT c.-11+13206_-11+13207delinsCT (n.-11+13206_-11+13207delinsCT) c.115_116delinsCT (p.Leu39=) c.409_410delinsCT (p.Leu137=) | |
7 | g.50529312G>A | CA454937561 | DDC,FIGNL1 | c.466C>T (p.Leu156=) c.232C>T (p.Leu78=) c.213-1032C>T c.435+8548C>T (n.435+8548C>T) c.352C>T (p.Leu118=) n.265C>T c.-11+13206C>T (n.-11+13206C>T) c.115C>T (p.Leu39=) c.409C>T (p.Leu137=) | |
7 | g.50529312G>C | CA367526806 | DDC,FIGNL1 | c.466C>G (p.Leu156Val) c.232C>G (p.Leu78Val) c.213-1032C>G c.435+8548C>G (n.435+8548C>G) c.352C>G (p.Leu118Val) n.265C>G c.-11+13206C>G (n.-11+13206C>G) c.115C>G (p.Leu39Val) c.409C>G (p.Leu137Val) | |
7 | g.50529312G>T | CA367526807 | DDC,FIGNL1 | c.466C>A (p.Leu156Met) c.232C>A (p.Leu78Met) c.213-1032C>A c.435+8548C>A (n.435+8548C>A) c.352C>A (p.Leu118Met) n.265C>A c.-11+13206C>A (n.-11+13206C>A) c.115C>A (p.Leu39Met) c.409C>A (p.Leu137Met) | |
7 | g.50529314del | CA4262359 | DDC,FIGNL1 | c.466del (p.Leu156CysfsTer8) c.232del (p.Leu78CysfsTer8) c.213-1032del c.435+8548del (n.435+8548del) c.352del (p.Leu118CysfsTer8) n.265del c.-11+13206del (n.-11+13206del) c.115del (p.Leu39CysfsTer8) c.409del (p.Leu137CysfsTer8) | dbSNP ExAC gnomAD v2 |
7 | g.50529313G>A | CA454937564 | DDC,FIGNL1 | c.465C>T (p.Ala155=) c.231C>T (p.Ala77=) c.213-1033C>T c.435+8547C>T (n.435+8547C>T) c.351C>T (p.Ala117=) n.264C>T c.-11+13205C>T (n.-11+13205C>T) c.114C>T (p.Ala38=) c.408C>T (p.Ala136=) | |
7 | g.50529313G>C | CA454937562 | DDC,FIGNL1 | c.465C>G (p.Ala155=) c.231C>G (p.Ala77=) c.213-1033C>G c.435+8547C>G (n.435+8547C>G) c.351C>G (p.Ala117=) n.264C>G c.-11+13205C>G (n.-11+13205C>G) c.114C>G (p.Ala38=) c.408C>G (p.Ala136=) | gnomAD v4 |
7 | g.50529313G>T | CA454937563 | DDC,FIGNL1 | c.465C>A (p.Ala155=) c.231C>A (p.Ala77=) c.213-1033C>A c.435+8547C>A (n.435+8547C>A) c.351C>A (p.Ala117=) n.264C>A c.-11+13205C>A (n.-11+13205C>A) c.114C>A (p.Ala38=) c.408C>A (p.Ala136=) | |
7 | g.50529314G>A | CA367526809 | DDC,FIGNL1 | c.464C>T (p.Ala155Val) c.230C>T (p.Ala77Val) c.213-1034C>T c.435+8546C>T (n.435+8546C>T) c.350C>T (p.Ala117Val) n.263C>T c.-11+13204C>T (n.-11+13204C>T) c.113C>T (p.Ala38Val) c.407C>T (p.Ala136Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529314G>C | CA367526810 | DDC,FIGNL1 | c.464C>G (p.Ala155Gly) c.230C>G (p.Ala77Gly) c.213-1034C>G c.435+8546C>G (n.435+8546C>G) c.350C>G (p.Ala117Gly) n.263C>G c.-11+13204C>G (n.-11+13204C>G) c.113C>G (p.Ala38Gly) c.407C>G (p.Ala136Gly) | |
7 | g.50529314G= | CA1706649231 | DDC,FIGNL1 | c.464C= (p.Ala155=) c.230C= (p.Ala77=) c.213-1034C= c.435+8546C= (n.435+8546C=) c.350C= (p.Ala117=) n.263C= c.-11+13204C= (n.-11+13204C=) c.113C= (p.Ala38=) c.407C= (p.Ala136=) | |
7 | g.50529314G>T | CA367526808 | DDC,FIGNL1 | c.464C>A (p.Ala155Asp) c.230C>A (p.Ala77Asp) c.213-1034C>A c.435+8546C>A (n.435+8546C>A) c.350C>A (p.Ala117Asp) n.263C>A c.-11+13204C>A (n.-11+13204C>A) c.113C>A (p.Ala38Asp) c.407C>A (p.Ala136Asp) | |
7 | g.50529315C>A | CA4262360 | DDC,FIGNL1 | c.463G>T (p.Ala155Ser) c.229G>T (p.Ala77Ser) c.213-1035G>T c.435+8545G>T (n.435+8545G>T) c.349G>T (p.Ala117Ser) n.262G>T c.-11+13203G>T (n.-11+13203G>T) c.112G>T (p.Ala38Ser) c.406G>T (p.Ala136Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529315C= | CA1706649233 | DDC,FIGNL1 | c.463G= (p.Ala155=) c.229G= (p.Ala77=) c.213-1035G= c.435+8545G= (n.435+8545G=) c.349G= (p.Ala117=) n.262G= c.-11+13203G= (n.-11+13203G=) c.112G= (p.Ala38=) c.406G= (p.Ala136=) | |
7 | g.50529315C>G | CA367526811 | DDC,FIGNL1 | c.463G>C (p.Ala155Pro) c.229G>C (p.Ala77Pro) c.213-1035G>C c.435+8545G>C (n.435+8545G>C) c.349G>C (p.Ala117Pro) n.262G>C c.-11+13203G>C (n.-11+13203G>C) c.112G>C (p.Ala38Pro) c.406G>C (p.Ala136Pro) | |
7 | g.50529315C>T | CA367526812 | DDC,FIGNL1 | c.463G>A (p.Ala155Thr) c.229G>A (p.Ala77Thr) c.213-1035G>A c.435+8545G>A (n.435+8545G>A) c.349G>A (p.Ala117Thr) n.262G>A c.-11+13203G>A (n.-11+13203G>A) c.112G>A (p.Ala38Thr) c.406G>A (p.Ala136Thr) | gnomAD v4 |
7 | g.50529316C>A | CA454937565 | DDC,FIGNL1 | c.462G>T (p.Val154=) c.228G>T (p.Val76=) c.213-1036G>T c.435+8544G>T (n.435+8544G>T) c.348G>T (p.Val116=) n.261G>T c.-11+13202G>T (n.-11+13202G>T) c.111G>T (p.Val37=) c.405G>T (p.Val135=) | |
7 | g.50529316C>G | CA454937566 | DDC,FIGNL1 | c.462G>C (p.Val154=) c.228G>C (p.Val76=) c.213-1036G>C c.435+8544G>C (n.435+8544G>C) c.348G>C (p.Val116=) n.261G>C c.-11+13202G>C (n.-11+13202G>C) c.111G>C (p.Val37=) c.405G>C (p.Val135=) | |
7 | g.50529316C>T | CA454937567 | DDC,FIGNL1 | c.462G>A (p.Val154=) c.228G>A (p.Val76=) c.213-1036G>A c.435+8544G>A (n.435+8544G>A) c.348G>A (p.Val116=) n.261G>A c.-11+13202G>A (n.-11+13202G>A) c.111G>A (p.Val37=) c.405G>A (p.Val135=) | |
7 | g.50529317A>C | CA367526813 | DDC,FIGNL1 | c.461T>G (p.Val154Gly) c.227T>G (p.Val76Gly) c.213-1037T>G c.435+8543T>G (n.435+8543T>G) c.347T>G (p.Val116Gly) n.260T>G c.-11+13201T>G (n.-11+13201T>G) c.110T>G (p.Val37Gly) c.404T>G (p.Val135Gly) | |
7 | g.50529317A>G | CA367526814 | DDC,FIGNL1 | c.461T>C (p.Val154Ala) c.227T>C (p.Val76Ala) c.213-1037T>C c.435+8543T>C (n.435+8543T>C) c.347T>C (p.Val116Ala) n.260T>C c.-11+13201T>C (n.-11+13201T>C) c.110T>C (p.Val37Ala) c.404T>C (p.Val135Ala) | gnomAD v4 |
7 | g.50529317A>T | CA367526815 | DDC,FIGNL1 | c.461T>A (p.Val154Glu) c.227T>A (p.Val76Glu) c.213-1037T>A c.435+8543T>A (n.435+8543T>A) c.347T>A (p.Val116Glu) n.260T>A c.-11+13201T>A (n.-11+13201T>A) c.110T>A (p.Val37Glu) c.404T>A (p.Val135Glu) | |
7 | g.50529318C>A | CA367526816 | DDC,FIGNL1 | c.460G>T (p.Val154Leu) c.226G>T (p.Val76Leu) c.213-1038G>T c.435+8542G>T (n.435+8542G>T) c.346G>T (p.Val116Leu) n.259G>T c.-11+13200G>T (n.-11+13200G>T) c.109G>T (p.Val37Leu) c.403G>T (p.Val135Leu) | |
7 | g.50529318C>G | CA367526817 | DDC,FIGNL1 | c.460G>C (p.Val154Leu) c.226G>C (p.Val76Leu) c.213-1038G>C c.435+8542G>C (n.435+8542G>C) c.346G>C (p.Val116Leu) n.259G>C c.-11+13200G>C (n.-11+13200G>C) c.109G>C (p.Val37Leu) c.403G>C (p.Val135Leu) | |
7 | g.50529318C>T | CA367526818 | DDC,FIGNL1 | c.460G>A (p.Val154Met) c.226G>A (p.Val76Met) c.213-1038G>A c.435+8542G>A (n.435+8542G>A) c.346G>A (p.Val116Met) n.259G>A c.-11+13200G>A (n.-11+13200G>A) c.109G>A (p.Val37Met) c.403G>A (p.Val135Met) | |
7 | g.50529319C>A | CA454937568 | DDC,FIGNL1 | c.459G>T (p.Leu153=) c.225G>T (p.Leu75=) c.213-1039G>T c.435+8541G>T (n.435+8541G>T) c.345G>T (p.Leu115=) n.258G>T c.-11+13199G>T (n.-11+13199G>T) c.108G>T (p.Leu36=) c.402G>T (p.Leu134=) | |
7 | g.50529319C= | CA1706649235 | DDC,FIGNL1 | c.459G= (p.Leu153=) c.225G= (p.Leu75=) c.213-1039G= c.435+8541G= (n.435+8541G=) c.345G= (p.Leu115=) n.258G= c.-11+13199G= (n.-11+13199G=) c.108G= (p.Leu36=) c.402G= (p.Leu134=) | |
7 | g.50529319C>G | CA454937569 | DDC,FIGNL1 | c.459G>C (p.Leu153=) c.225G>C (p.Leu75=) c.213-1039G>C c.435+8541G>C (n.435+8541G>C) c.345G>C (p.Leu115=) n.258G>C c.-11+13199G>C (n.-11+13199G>C) c.108G>C (p.Leu36=) c.402G>C (p.Leu134=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529319C>T | CA4262361 | DDC,FIGNL1 | c.459G>A (p.Leu153=) c.225G>A (p.Leu75=) c.213-1039G>A c.435+8541G>A (n.435+8541G>A) c.345G>A (p.Leu115=) n.258G>A c.-11+13199G>A (n.-11+13199G>A) c.108G>A (p.Leu36=) c.402G>A (p.Leu134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529320A>C | CA367526819 | DDC,FIGNL1 | c.458T>G (p.Leu153Arg) c.224T>G (p.Leu75Arg) c.213-1040T>G c.435+8540T>G (n.435+8540T>G) c.344T>G (p.Leu115Arg) n.257T>G c.-11+13198T>G (n.-11+13198T>G) c.107T>G (p.Leu36Arg) c.401T>G (p.Leu134Arg) | |
7 | g.50529320A>G | CA367526820 | DDC,FIGNL1 | c.458T>C (p.Leu153Pro) c.224T>C (p.Leu75Pro) c.213-1040T>C c.435+8540T>C (n.435+8540T>C) c.344T>C (p.Leu115Pro) n.257T>C c.-11+13198T>C (n.-11+13198T>C) c.107T>C (p.Leu36Pro) c.401T>C (p.Leu134Pro) | |
7 | g.50529320A>T | CA367526821 | DDC,FIGNL1 | c.458T>A (p.Leu153Gln) c.224T>A (p.Leu75Gln) c.213-1040T>A c.435+8540T>A (n.435+8540T>A) c.344T>A (p.Leu115Gln) n.257T>A c.-11+13198T>A (n.-11+13198T>A) c.107T>A (p.Leu36Gln) c.401T>A (p.Leu134Gln) | |
7 | g.50529321G>A | CA4262362 | DDC,FIGNL1 | c.457C>T (p.Leu153=) c.223C>T (p.Leu75=) c.213-1041C>T c.435+8539C>T (n.435+8539C>T) c.343C>T (p.Leu115=) n.256C>T c.-11+13197C>T (n.-11+13197C>T) c.106C>T (p.Leu36=) c.400C>T (p.Leu134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529321G>C | CA367526823 | DDC,FIGNL1 | c.457C>G (p.Leu153Val) c.223C>G (p.Leu75Val) c.213-1041C>G c.435+8539C>G (n.435+8539C>G) c.343C>G (p.Leu115Val) n.256C>G c.-11+13197C>G (n.-11+13197C>G) c.106C>G (p.Leu36Val) c.400C>G (p.Leu134Val) | |
7 | g.50529321G= | CA1706649238 | DDC,FIGNL1 | c.457C= (p.Leu153=) c.223C= (p.Leu75=) c.213-1041C= c.435+8539C= (n.435+8539C=) c.343C= (p.Leu115=) n.256C= c.-11+13197C= (n.-11+13197C=) c.106C= (p.Leu36=) c.400C= (p.Leu134=) | |
7 | g.50529321G>T | CA367526822 | DDC,FIGNL1 | c.457C>A (p.Leu153Met) c.223C>A (p.Leu75Met) c.213-1041C>A c.435+8539C>A (n.435+8539C>A) c.343C>A (p.Leu115Met) n.256C>A c.-11+13197C>A (n.-11+13197C>A) c.106C>A (p.Leu36Met) c.400C>A (p.Leu134Met) | |
7 | g.50529322G>A | CA4262363 | DDC,FIGNL1 | c.456C>T (p.Thr152=) c.222C>T (p.Thr74=) c.213-1042C>T c.435+8538C>T (n.435+8538C>T) c.342C>T (p.Thr114=) n.255C>T c.-11+13196C>T (n.-11+13196C>T) c.105C>T (p.Thr35=) c.399C>T (p.Thr133=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529322G>C | CA454937571 | DDC,FIGNL1 | c.456C>G (p.Thr152=) c.222C>G (p.Thr74=) c.213-1042C>G c.435+8538C>G (n.435+8538C>G) c.342C>G (p.Thr114=) n.255C>G c.-11+13196C>G (n.-11+13196C>G) c.105C>G (p.Thr35=) c.399C>G (p.Thr133=) | |
7 | g.50529322G= | CA1706649240 | DDC,FIGNL1 | c.456C= (p.Thr152=) c.222C= (p.Thr74=) c.213-1042C= c.435+8538C= (n.435+8538C=) c.342C= (p.Thr114=) n.255C= c.-11+13196C= (n.-11+13196C=) c.105C= (p.Thr35=) c.399C= (p.Thr133=) | |
7 | g.50529322G>T | CA454937570 | DDC,FIGNL1 | c.456C>A (p.Thr152=) c.222C>A (p.Thr74=) c.213-1042C>A c.435+8538C>A (n.435+8538C>A) c.342C>A (p.Thr114=) n.255C>A c.-11+13196C>A (n.-11+13196C>A) c.105C>A (p.Thr35=) c.399C>A (p.Thr133=) | |
7 | g.50529323G>A | CA367526824 | DDC,FIGNL1 | c.455C>T (p.Thr152Ile) c.221C>T (p.Thr74Ile) c.213-1043C>T c.435+8537C>T (n.435+8537C>T) c.341C>T (p.Thr114Ile) n.254C>T c.-11+13195C>T (n.-11+13195C>T) c.104C>T (p.Thr35Ile) c.398C>T (p.Thr133Ile) | |
7 | g.50529323G>C | CA367526825 | DDC,FIGNL1 | c.455C>G (p.Thr152Ser) c.221C>G (p.Thr74Ser) c.213-1043C>G c.435+8537C>G (n.435+8537C>G) c.341C>G (p.Thr114Ser) n.254C>G c.-11+13195C>G (n.-11+13195C>G) c.104C>G (p.Thr35Ser) c.398C>G (p.Thr133Ser) | |
7 | g.50529323G= | CA1706649243 | DDC,FIGNL1 | c.455C= (p.Thr152=) c.221C= (p.Thr74=) c.213-1043C= c.435+8537C= (n.435+8537C=) c.341C= (p.Thr114=) n.254C= c.-11+13195C= (n.-11+13195C=) c.104C= (p.Thr35=) c.398C= (p.Thr133=) | |
7 | g.50529323G>T | CA4262364 | DDC,FIGNL1 | c.455C>A (p.Thr152Asn) c.221C>A (p.Thr74Asn) c.213-1043C>A c.435+8537C>A (n.435+8537C>A) c.341C>A (p.Thr114Asn) n.254C>A c.-11+13195C>A (n.-11+13195C>A) c.104C>A (p.Thr35Asn) c.398C>A (p.Thr133Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.50529324T>A | CA367526826 | DDC,FIGNL1 | c.454A>T (p.Thr152Ser) c.220A>T (p.Thr74Ser) c.213-1044A>T c.435+8536A>T (n.435+8536A>T) c.340A>T (p.Thr114Ser) n.253A>T c.-11+13194A>T (n.-11+13194A>T) c.103A>T (p.Thr35Ser) c.397A>T (p.Thr133Ser) | |
7 | g.50529324T>C | CA367526827 | DDC,FIGNL1 | c.454A>G (p.Thr152Ala) c.220A>G (p.Thr74Ala) c.213-1044A>G c.435+8536A>G (n.435+8536A>G) c.340A>G (p.Thr114Ala) n.253A>G c.-11+13194A>G (n.-11+13194A>G) c.103A>G (p.Thr35Ala) c.397A>G (p.Thr133Ala) | |
7 | g.50529324T>G | CA367526828 | DDC,FIGNL1 | c.454A>C (p.Thr152Pro) c.220A>C (p.Thr74Pro) c.213-1044A>C c.435+8536A>C (n.435+8536A>C) c.340A>C (p.Thr114Pro) n.253A>C c.-11+13194A>C (n.-11+13194A>C) c.103A>C (p.Thr35Pro) c.397A>C (p.Thr133Pro) | dbSNP |
7 | g.50529324T= | CA1706649245 | DDC,FIGNL1 | c.454A= (p.Thr152=) c.220A= (p.Thr74=) c.213-1044A= c.435+8536A= (n.435+8536A=) c.340A= (p.Thr114=) n.253A= c.-11+13194A= (n.-11+13194A=) c.103A= (p.Thr35=) c.397A= (p.Thr133=) | |
7 | g.50529325G>A | CA454937572 | DDC,FIGNL1 | c.453C>T (p.Ala151=) c.219C>T (p.Ala73=) c.213-1045C>T c.435+8535C>T (n.435+8535C>T) c.339C>T (p.Ala113=) n.252C>T c.-11+13193C>T (n.-11+13193C>T) c.102C>T (p.Ala34=) c.396C>T (p.Ala132=) | gnomAD v4 |
7 | g.50529325G>C | CA454937573 | DDC,FIGNL1 | c.453C>G (p.Ala151=) c.219C>G (p.Ala73=) c.213-1045C>G c.435+8535C>G (n.435+8535C>G) c.339C>G (p.Ala113=) n.252C>G c.-11+13193C>G (n.-11+13193C>G) c.102C>G (p.Ala34=) c.396C>G (p.Ala132=) | |
7 | g.50529325G>T | CA454937574 | DDC,FIGNL1 | c.453C>A (p.Ala151=) c.219C>A (p.Ala73=) c.213-1045C>A c.435+8535C>A (n.435+8535C>A) c.339C>A (p.Ala113=) n.252C>A c.-11+13193C>A (n.-11+13193C>A) c.102C>A (p.Ala34=) c.396C>A (p.Ala132=) | |
7 | g.50529326G>A | CA367526829 | DDC,FIGNL1 | c.452C>T (p.Ala151Val) c.218C>T (p.Ala73Val) c.213-1046C>T c.435+8534C>T (n.435+8534C>T) c.338C>T (p.Ala113Val) n.251C>T c.-11+13192C>T (n.-11+13192C>T) c.101C>T (p.Ala34Val) c.395C>T (p.Ala132Val) | |
7 | g.50529326G>C | CA367526830 | DDC,FIGNL1 | c.452C>G (p.Ala151Gly) c.218C>G (p.Ala73Gly) c.213-1046C>G c.435+8534C>G (n.435+8534C>G) c.338C>G (p.Ala113Gly) n.251C>G c.-11+13192C>G (n.-11+13192C>G) c.101C>G (p.Ala34Gly) c.395C>G (p.Ala132Gly) | |
7 | g.50529326G>T | CA367526831 | DDC,FIGNL1 | c.452C>A (p.Ala151Asp) c.218C>A (p.Ala73Asp) c.213-1046C>A c.435+8534C>A (n.435+8534C>A) c.338C>A (p.Ala113Asp) n.251C>A c.-11+13192C>A (n.-11+13192C>A) c.101C>A (p.Ala34Asp) c.395C>A (p.Ala132Asp) | |
7 | g.50529327C>A | CA367526833 | DDC,FIGNL1 | c.451G>T (p.Ala151Ser) c.217G>T (p.Ala73Ser) c.213-1047G>T c.435+8533G>T (n.435+8533G>T) c.337G>T (p.Ala113Ser) n.250G>T c.-11+13191G>T (n.-11+13191G>T) c.100G>T (p.Ala34Ser) c.394G>T (p.Ala132Ser) | |
7 | g.50529327C>G | CA367526834 | DDC,FIGNL1 | c.451G>C (p.Ala151Pro) c.217G>C (p.Ala73Pro) c.213-1047G>C c.435+8533G>C (n.435+8533G>C) c.337G>C (p.Ala113Pro) n.250G>C c.-11+13191G>C (n.-11+13191G>C) c.100G>C (p.Ala34Pro) c.394G>C (p.Ala132Pro) | |
7 | g.50529327C>T | CA367526832 | DDC,FIGNL1 | c.451G>A (p.Ala151Thr) c.217G>A (p.Ala73Thr) c.213-1047G>A c.435+8533G>A (n.435+8533G>A) c.337G>A (p.Ala113Thr) n.250G>A c.-11+13191G>A (n.-11+13191G>A) c.100G>A (p.Ala34Thr) c.394G>A (p.Ala132Thr) | |
7 | g.50529328T>A | CA367526835 | DDC,FIGNL1 | c.450A>T (p.Glu150Asp) c.216A>T (p.Glu72Asp) c.213-1048A>T c.435+8532A>T (n.435+8532A>T) c.336A>T (p.Glu112Asp) n.249A>T c.-11+13190A>T (n.-11+13190A>T) c.99A>T (p.Glu33Asp) c.393A>T (p.Glu131Asp) | |
7 | g.50529328T>C | CA454937575 | DDC,FIGNL1 | c.450A>G (p.Glu150=) c.216A>G (p.Glu72=) c.213-1048A>G c.435+8532A>G (n.435+8532A>G) c.336A>G (p.Glu112=) n.249A>G c.-11+13190A>G (n.-11+13190A>G) c.99A>G (p.Glu33=) c.393A>G (p.Glu131=) | gnomAD v4 |
7 | g.50529328T>G | CA367526836 | DDC,FIGNL1 | c.450A>C (p.Glu150Asp) c.216A>C (p.Glu72Asp) c.213-1048A>C c.435+8532A>C (n.435+8532A>C) c.336A>C (p.Glu112Asp) n.249A>C c.-11+13190A>C (n.-11+13190A>C) c.99A>C (p.Glu33Asp) c.393A>C (p.Glu131Asp) | |
7 | g.50529329T>A | CA367526837 | DDC,FIGNL1 | c.449A>T (p.Glu150Val) c.215A>T (p.Glu72Val) c.213-1049A>T c.435+8531A>T (n.435+8531A>T) c.335A>T (p.Glu112Val) n.248A>T c.-11+13189A>T (n.-11+13189A>T) c.98A>T (p.Glu33Val) c.392A>T (p.Glu131Val) | |
7 | g.50529329T>C | CA367526838 | DDC,FIGNL1 | c.449A>G (p.Glu150Gly) c.215A>G (p.Glu72Gly) c.213-1049A>G c.435+8531A>G (n.435+8531A>G) c.335A>G (p.Glu112Gly) n.248A>G c.-11+13189A>G (n.-11+13189A>G) c.98A>G (p.Glu33Gly) c.392A>G (p.Glu131Gly) | |
7 | g.50529329T>G | CA367526839 | DDC,FIGNL1 | c.449A>C (p.Glu150Ala) c.215A>C (p.Glu72Ala) c.213-1049A>C c.435+8531A>C (n.435+8531A>C) c.335A>C (p.Glu112Ala) n.248A>C c.-11+13189A>C (n.-11+13189A>C) c.98A>C (p.Glu33Ala) c.392A>C (p.Glu131Ala) | |
7 | g.50529330C>A | CA367526840 | DDC,FIGNL1 | c.448G>T (p.Glu150Ter) c.214G>T (p.Glu72Ter) c.213-1050G>T c.435+8530G>T (n.435+8530G>T) c.334G>T (p.Glu112Ter) n.247G>T c.-11+13188G>T (n.-11+13188G>T) c.97G>T (p.Glu33Ter) c.391G>T (p.Glu131Ter) | |
7 | g.50529330C= | CA1706649247 | DDC,FIGNL1 | c.448G= (p.Glu150=) c.214G= (p.Glu72=) c.213-1050G= c.435+8530G= (n.435+8530G=) c.334G= (p.Glu112=) n.247G= c.-11+13188G= (n.-11+13188G=) c.97G= (p.Glu33=) c.391G= (p.Glu131=) | |
7 | g.50529330C>G | CA367526841 | DDC,FIGNL1 | c.448G>C (p.Glu150Gln) c.214G>C (p.Glu72Gln) c.213-1050G>C c.435+8530G>C (n.435+8530G>C) c.334G>C (p.Glu112Gln) n.247G>C c.-11+13188G>C (n.-11+13188G>C) c.97G>C (p.Glu33Gln) c.391G>C (p.Glu131Gln) | |
7 | g.50529330C>T | CA4262365 | DDC,FIGNL1 | c.448G>A (p.Glu150Lys) c.214G>A (p.Glu72Lys) c.213-1050G>A c.435+8530G>A (n.435+8530G>A) c.334G>A (p.Glu112Lys) n.247G>A c.-11+13188G>A (n.-11+13188G>A) c.97G>A (p.Glu33Lys) c.391G>A (p.Glu131Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.50529331A>C | CA367526842 | DDC,FIGNL1 | c.447T>G (p.Ser149Arg) c.213T>G (p.Ser71Arg) c.213-1051T>G c.435+8529T>G (n.435+8529T>G) c.333T>G (p.Ser111Arg) n.246T>G c.-11+13187T>G (n.-11+13187T>G) c.96T>G (p.Ser32Arg) c.390T>G (p.Ser130Arg) | |
7 | g.50529331A>G | CA454937576 | DDC,FIGNL1 | c.447T>C (p.Ser149=) c.213T>C (p.Ser71=) c.213-1051T>C c.435+8529T>C (n.435+8529T>C) c.333T>C (p.Ser111=) n.246T>C c.-11+13187T>C (n.-11+13187T>C) c.96T>C (p.Ser32=) c.390T>C (p.Ser130=) | |
7 | g.50529331A>T | CA367526843 | DDC,FIGNL1 | c.447T>A (p.Ser149Arg) c.213T>A (p.Ser71Arg) c.213-1051T>A c.435+8529T>A (n.435+8529T>A) c.333T>A (p.Ser111Arg) n.246T>A c.-11+13187T>A (n.-11+13187T>A) c.96T>A (p.Ser32Arg) c.390T>A (p.Ser130Arg) | |
7 | g.50529332C>A | CA367526844 | DDC,FIGNL1 | c.446G>T (p.Ser149Ile) c.212G>T (p.Ser71Ile) c.213-1052G>T c.435+8528G>T (n.435+8528G>T) c.332G>T (p.Ser111Ile) n.245G>T c.-11+13186G>T (n.-11+13186G>T) c.95G>T (p.Ser32Ile) c.389G>T (p.Ser130Ile) | |
7 | g.50529332C= | CA1706649250 | DDC,FIGNL1 | c.446G= (p.Ser149=) c.212G= (p.Ser71=) c.213-1052G= c.435+8528G= (n.435+8528G=) c.332G= (p.Ser111=) n.245G= c.-11+13186G= (n.-11+13186G=) c.95G= (p.Ser32=) c.389G= (p.Ser130=) | |
7 | g.50529332C>G | CA367526845 | DDC,FIGNL1 | c.446G>C (p.Ser149Thr) c.212G>C (p.Ser71Thr) c.213-1052G>C c.435+8528G>C (n.435+8528G>C) c.332G>C (p.Ser111Thr) n.245G>C c.-11+13186G>C (n.-11+13186G>C) c.95G>C (p.Ser32Thr) c.389G>C (p.Ser130Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.50529332C>T | CA158232917 | DDC,FIGNL1 | c.446G>A (p.Ser149Asn) c.212G>A (p.Ser71Asn) c.213-1052G>A c.435+8528G>A (n.435+8528G>A) c.332G>A (p.Ser111Asn) n.245G>A c.-11+13186G>A (n.-11+13186G>A) c.95G>A (p.Ser32Asn) c.389G>A (p.Ser130Asn) | dbSNP gnomAD v4 |
7 | g.50529333T>A | CA367526848 | DDC,FIGNL1 | c.445A>T (p.Ser149Cys) c.211A>T (p.Ser71Cys) c.213-1053A>T c.435+8527A>T (n.435+8527A>T) c.331A>T (p.Ser111Cys) n.244A>T c.-11+13185A>T (n.-11+13185A>T) c.94A>T (p.Ser32Cys) c.388A>T (p.Ser130Cys) | |
7 | g.50529333T>C | CA367526847 | DDC,FIGNL1 | c.445A>G (p.Ser149Gly) c.211A>G (p.Ser71Gly) c.213-1053A>G c.435+8527A>G (n.435+8527A>G) c.331A>G (p.Ser111Gly) n.244A>G c.-11+13185A>G (n.-11+13185A>G) c.94A>G (p.Ser32Gly) c.388A>G (p.Ser130Gly) | |
7 | g.50529333T>G | CA367526846 | DDC,FIGNL1 | c.445A>C (p.Ser149Arg) c.211A>C (p.Ser71Arg) c.213-1053A>C c.435+8527A>C (n.435+8527A>C) c.331A>C (p.Ser111Arg) n.244A>C c.-11+13185A>C (n.-11+13185A>C) c.94A>C (p.Ser32Arg) c.388A>C (p.Ser130Arg) |