Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215376498C>A | CA350471078 | FN1 | c.5887G>T (p.Gly1963Cys) c.5614G>T (p.Gly1872Cys) c.5344G>T (p.Gly1782Cys) c.5617G>T (p.Gly1873Cys) c.1765G>T (p.Gly589Cys) n.972G>T n.7024G>T n.132+2961C>A | |
2 | g.215376498C= | CA1327346843 | FN1 | c.5887G= (p.Gly1963=) c.5614G= (p.Gly1872=) c.5344G= (p.Gly1782=) c.5617G= (p.Gly1873=) c.1765G= (p.Gly589=) n.972G= n.7024G= n.132+2961C= | |
2 | g.215376498C>G | CA350471080 | FN1 | c.5887G>C (p.Gly1963Arg) c.5614G>C (p.Gly1872Arg) c.5344G>C (p.Gly1782Arg) c.5617G>C (p.Gly1873Arg) c.1765G>C (p.Gly589Arg) n.972G>C n.7024G>C n.132+2961C>G | |
2 | g.215376498C>T | CA350471081 | FN1 | c.5887G>A (p.Gly1963Ser) c.5614G>A (p.Gly1872Ser) c.5344G>A (p.Gly1782Ser) c.5617G>A (p.Gly1873Ser) c.1765G>A (p.Gly589Ser) n.972G>A n.7024G>A n.132+2961C>T | dbSNP gnomAD v4 |
2 | g.215376499T>A | CA431154936 | FN1 | c.5886A>T (p.Thr1962=) c.5613A>T (p.Thr1871=) c.5343A>T (p.Thr1781=) c.5616A>T (p.Thr1872=) c.1764A>T (p.Thr588=) n.971A>T n.7023A>T n.132+2962T>A | |
2 | g.215376499T>C | CA431154937 | FN1 | c.5886A>G (p.Thr1962=) c.5613A>G (p.Thr1871=) c.5343A>G (p.Thr1781=) c.5616A>G (p.Thr1872=) c.1764A>G (p.Thr588=) n.971A>G n.7023A>G n.132+2962T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376499T>G | CA431154938 | FN1 | c.5886A>C (p.Thr1962=) c.5613A>C (p.Thr1871=) c.5343A>C (p.Thr1781=) c.5616A>C (p.Thr1872=) c.1764A>C (p.Thr588=) n.971A>C n.7023A>C n.132+2962T>G | |
2 | g.215376499T= | CA1327346844 | FN1 | c.5886A= (p.Thr1962=) c.5613A= (p.Thr1871=) c.5343A= (p.Thr1781=) c.5616A= (p.Thr1872=) c.1764A= (p.Thr588=) n.971A= n.7023A= n.132+2962T= | |
2 | g.215376500G>A | CA350471082 | FN1 | c.5885C>T (p.Thr1962Ile) c.5612C>T (p.Thr1871Ile) c.5342C>T (p.Thr1781Ile) c.5615C>T (p.Thr1872Ile) c.1763C>T (p.Thr588Ile) n.970C>T n.7022C>T n.132+2963G>A | gnomAD v4 |
2 | g.215376500G>C | CA350471086 | FN1 | c.5885C>G (p.Thr1962Arg) c.5612C>G (p.Thr1871Arg) c.5342C>G (p.Thr1781Arg) c.5615C>G (p.Thr1872Arg) c.1763C>G (p.Thr588Arg) n.970C>G n.7022C>G n.132+2963G>C | |
2 | g.215376500G>T | CA350471084 | FN1 | c.5885C>A (p.Thr1962Lys) c.5612C>A (p.Thr1871Lys) c.5342C>A (p.Thr1781Lys) c.5615C>A (p.Thr1872Lys) c.1763C>A (p.Thr588Lys) n.970C>A n.7022C>A n.132+2963G>T | |
2 | g.215376501T>A | CA350471090 | FN1 | c.5884A>T (p.Thr1962Ser) c.5611A>T (p.Thr1871Ser) c.5341A>T (p.Thr1781Ser) c.5614A>T (p.Thr1872Ser) c.1762A>T (p.Thr588Ser) n.969A>T n.7021A>T n.132+2964T>A | |
2 | g.215376501T>C | CA350471092 | FN1 | c.5884A>G (p.Thr1962Ala) c.5611A>G (p.Thr1871Ala) c.5341A>G (p.Thr1781Ala) c.5614A>G (p.Thr1872Ala) c.1762A>G (p.Thr588Ala) n.969A>G n.7021A>G n.132+2964T>C | |
2 | g.215376501T>G | CA350471093 | FN1 | c.5884A>C (p.Thr1962Pro) c.5611A>C (p.Thr1871Pro) c.5341A>C (p.Thr1781Pro) c.5614A>C (p.Thr1872Pro) c.1762A>C (p.Thr588Pro) n.969A>C n.7021A>C n.132+2964T>G | |
2 | g.215376508_215376534del | CA2586965569 | FN1 | c.5858_5884del (p.Lys1953_Ile1961del) c.5585_5611del (p.Lys1862_Ile1870del) c.5315_5341del (p.Lys1772_Ile1780del) c.5588_5614del (p.Lys1863_Ile1871del) c.1736_1762del (p.Lys579_Ile587del) n.943_969del n.6995_7021del n.132+2971_132+2997del | |
2 | g.215376502G>A | CA431154939 | FN1 | c.5883C>T (p.Ile1961=) c.5610C>T (p.Ile1870=) c.5340C>T (p.Ile1780=) c.5613C>T (p.Ile1871=) c.1761C>T (p.Ile587=) n.968C>T n.7020C>T n.132+2965G>A | |
2 | g.215376502G>C | CA350471095 | FN1 | c.5883C>G (p.Ile1961Met) c.5610C>G (p.Ile1870Met) c.5340C>G (p.Ile1780Met) c.5613C>G (p.Ile1871Met) c.1761C>G (p.Ile587Met) n.968C>G n.7020C>G n.132+2965G>C | |
2 | g.215376502G>T | CA431154940 | FN1 | c.5883C>A (p.Ile1961=) c.5610C>A (p.Ile1870=) c.5340C>A (p.Ile1780=) c.5613C>A (p.Ile1871=) c.1761C>A (p.Ile587=) n.968C>A n.7020C>A n.132+2965G>T | |
2 | g.215376503A>C | CA350471097 | FN1 | c.5882T>G (p.Ile1961Ser) c.5609T>G (p.Ile1870Ser) c.5339T>G (p.Ile1780Ser) c.5612T>G (p.Ile1871Ser) c.1760T>G (p.Ile587Ser) n.967T>G n.7019T>G n.132+2966A>C | |
2 | g.215376503A>G | CA350471098 | FN1 | c.5882T>C (p.Ile1961Thr) c.5609T>C (p.Ile1870Thr) c.5339T>C (p.Ile1780Thr) c.5612T>C (p.Ile1871Thr) c.1760T>C (p.Ile587Thr) n.967T>C n.7019T>C n.132+2966A>G | |
2 | g.215376503A>T | CA350471100 | FN1 | c.5882T>A (p.Ile1961Asn) c.5609T>A (p.Ile1870Asn) c.5339T>A (p.Ile1780Asn) c.5612T>A (p.Ile1871Asn) c.1760T>A (p.Ile587Asn) n.967T>A n.7019T>A n.132+2966A>T | COSMIC COSMIC |
2 | g.215376504T>A | CA350471101 | FN1 | c.5881A>T (p.Ile1961Phe) c.5608A>T (p.Ile1870Phe) c.5338A>T (p.Ile1780Phe) c.5611A>T (p.Ile1871Phe) c.1759A>T (p.Ile587Phe) n.966A>T n.7018A>T n.132+2967T>A | |
2 | g.215376504T>C | CA350471102 | FN1 | c.5881A>G (p.Ile1961Val) c.5608A>G (p.Ile1870Val) c.5338A>G (p.Ile1780Val) c.5611A>G (p.Ile1871Val) c.1759A>G (p.Ile587Val) n.966A>G n.7018A>G n.132+2967T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376504T>G | CA350471103 | FN1 | c.5881A>C (p.Ile1961Leu) c.5608A>C (p.Ile1870Leu) c.5338A>C (p.Ile1780Leu) c.5611A>C (p.Ile1871Leu) c.1759A>C (p.Ile587Leu) n.966A>C n.7018A>C n.132+2967T>G | |
2 | g.215376504T= | CA1327346845 | FN1 | c.5881A= (p.Ile1961=) c.5608A= (p.Ile1870=) c.5338A= (p.Ile1780=) c.5611A= (p.Ile1871=) c.1759A= (p.Ile587=) n.966A= n.7018A= n.132+2967T= | |
2 | g.215376505G>A | CA431154943 | FN1 | c.5880C>T (p.Thr1960=) c.5607C>T (p.Thr1869=) c.5337C>T (p.Thr1779=) c.5610C>T (p.Thr1870=) c.1758C>T (p.Thr586=) n.965C>T n.7017C>T n.132+2968G>A | dbSNP |
2 | g.215376505G>C | CA431154942 | FN1 | c.5880C>G (p.Thr1960=) c.5607C>G (p.Thr1869=) c.5337C>G (p.Thr1779=) c.5610C>G (p.Thr1870=) c.1758C>G (p.Thr586=) n.965C>G n.7017C>G n.132+2968G>C | |
2 | g.215376505G= | CA1327346846 | FN1 | c.5880C= (p.Thr1960=) c.5607C= (p.Thr1869=) c.5337C= (p.Thr1779=) c.5610C= (p.Thr1870=) c.1758C= (p.Thr586=) n.965C= n.7017C= n.132+2968G= | |
2 | g.215376505G>T | CA431154941 | FN1 | c.5880C>A (p.Thr1960=) c.5607C>A (p.Thr1869=) c.5337C>A (p.Thr1779=) c.5610C>A (p.Thr1870=) c.1758C>A (p.Thr586=) n.965C>A n.7017C>A n.132+2968G>T | |
2 | g.215376506G>A | CA350471104 | FN1 | c.5879C>T (p.Thr1960Ile) c.5606C>T (p.Thr1869Ile) c.5336C>T (p.Thr1779Ile) c.5609C>T (p.Thr1870Ile) c.1757C>T (p.Thr586Ile) n.964C>T n.7016C>T n.132+2969G>A | |
2 | g.215376506G>C | CA350471105 | FN1 | c.5879C>G (p.Thr1960Ser) c.5606C>G (p.Thr1869Ser) c.5336C>G (p.Thr1779Ser) c.5609C>G (p.Thr1870Ser) c.1757C>G (p.Thr586Ser) n.964C>G n.7016C>G n.132+2969G>C | |
2 | g.215376506G>T | CA350471106 | FN1 | c.5879C>A (p.Thr1960Asn) c.5606C>A (p.Thr1869Asn) c.5336C>A (p.Thr1779Asn) c.5609C>A (p.Thr1870Asn) c.1757C>A (p.Thr586Asn) n.964C>A n.7016C>A n.132+2969G>T | |
2 | g.215376507T>A | CA350471109 | FN1 | c.5878A>T (p.Thr1960Ser) c.5605A>T (p.Thr1869Ser) c.5335A>T (p.Thr1779Ser) c.5608A>T (p.Thr1870Ser) c.1756A>T (p.Thr586Ser) n.963A>T n.7015A>T n.132+2970T>A | |
2 | g.215376507T>C | CA350471117 | FN1 | c.5878A>G (p.Thr1960Ala) c.5605A>G (p.Thr1869Ala) c.5335A>G (p.Thr1779Ala) c.5608A>G (p.Thr1870Ala) c.1756A>G (p.Thr586Ala) n.963A>G n.7015A>G n.132+2970T>C | |
2 | g.215376507T>G | CA350471114 | FN1 | c.5878A>C (p.Thr1960Pro) c.5605A>C (p.Thr1869Pro) c.5335A>C (p.Thr1779Pro) c.5608A>C (p.Thr1870Pro) c.1756A>C (p.Thr586Pro) n.963A>C n.7015A>C n.132+2970T>G | |
2 | g.215376508G>A | CA431154944 | FN1 | c.5877C>T (p.Tyr1959=) c.5604C>T (p.Tyr1868=) c.5334C>T (p.Tyr1778=) c.5607C>T (p.Tyr1869=) c.1755C>T (p.Tyr585=) n.962C>T n.7014C>T n.132+2971G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.215376508G>C | CA350471118 | FN1 | c.5877C>G (p.Tyr1959Ter) c.5604C>G (p.Tyr1868Ter) c.5334C>G (p.Tyr1778Ter) c.5607C>G (p.Tyr1869Ter) c.1755C>G (p.Tyr585Ter) n.962C>G n.7014C>G n.132+2971G>C | |
2 | g.215376508G= | CA1327346847 | FN1 | c.5877C= (p.Tyr1959=) c.5604C= (p.Tyr1868=) c.5334C= (p.Tyr1778=) c.5607C= (p.Tyr1869=) c.1755C= (p.Tyr585=) n.962C= n.7014C= n.132+2971G= | |
2 | g.215376508G>T | CA350471119 | FN1 | c.5877C>A (p.Tyr1959Ter) c.5604C>A (p.Tyr1868Ter) c.5334C>A (p.Tyr1778Ter) c.5607C>A (p.Tyr1869Ter) c.1755C>A (p.Tyr585Ter) n.962C>A n.7014C>A n.132+2971G>T | |
2 | g.215376509T>A | CA350471122 | FN1 | c.5876A>T (p.Tyr1959Phe) c.5603A>T (p.Tyr1868Phe) c.5333A>T (p.Tyr1778Phe) c.5606A>T (p.Tyr1869Phe) c.1754A>T (p.Tyr585Phe) n.961A>T n.7013A>T n.132+2972T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376509T>C | CA350471123 | FN1 | c.5876A>G (p.Tyr1959Cys) c.5603A>G (p.Tyr1868Cys) c.5333A>G (p.Tyr1778Cys) c.5606A>G (p.Tyr1869Cys) c.1754A>G (p.Tyr585Cys) n.961A>G n.7013A>G n.132+2972T>C | |
2 | g.215376509T>G | CA350471125 | FN1 | c.5876A>C (p.Tyr1959Ser) c.5603A>C (p.Tyr1868Ser) c.5333A>C (p.Tyr1778Ser) c.5606A>C (p.Tyr1869Ser) c.1754A>C (p.Tyr585Ser) n.961A>C n.7013A>C n.132+2972T>G | |
2 | g.215376509T= | CA1327346848 | FN1 | c.5876A= (p.Tyr1959=) c.5603A= (p.Tyr1868=) c.5333A= (p.Tyr1778=) c.5606A= (p.Tyr1869=) c.1754A= (p.Tyr585=) n.961A= n.7013A= n.132+2972T= | |
2 | g.215376510A>C | CA350471126 | FN1 | c.5875T>G (p.Tyr1959Asp) c.5602T>G (p.Tyr1868Asp) c.5332T>G (p.Tyr1778Asp) c.5605T>G (p.Tyr1869Asp) c.1753T>G (p.Tyr585Asp) n.960T>G n.7012T>G n.132+2973A>C | |
2 | g.215376510A>G | CA350471128 | FN1 | c.5875T>C (p.Tyr1959His) c.5602T>C (p.Tyr1868His) c.5332T>C (p.Tyr1778His) c.5605T>C (p.Tyr1869His) c.1753T>C (p.Tyr585His) n.960T>C n.7012T>C n.132+2973A>G | |
2 | g.215376510A>T | CA350471130 | FN1 | c.5875T>A (p.Tyr1959Asn) c.5602T>A (p.Tyr1868Asn) c.5332T>A (p.Tyr1778Asn) c.5605T>A (p.Tyr1869Asn) c.1753T>A (p.Tyr585Asn) n.960T>A n.7012T>A n.132+2973A>T | |
2 | g.215376511G>A | CA431154945 | FN1 | c.5874C>T (p.Ser1958=) c.5601C>T (p.Ser1867=) c.5331C>T (p.Ser1777=) c.5604C>T (p.Ser1868=) c.1752C>T (p.Ser584=) n.959C>T n.7011C>T n.132+2974G>A | gnomAD v4 |
2 | g.215376511G>C | CA350471132 | FN1 | c.5874C>G (p.Ser1958Arg) c.5601C>G (p.Ser1867Arg) c.5331C>G (p.Ser1777Arg) c.5604C>G (p.Ser1868Arg) c.1752C>G (p.Ser584Arg) n.959C>G n.7011C>G n.132+2974G>C | |
2 | g.215376511G>T | CA350471133 | FN1 | c.5874C>A (p.Ser1958Arg) c.5601C>A (p.Ser1867Arg) c.5331C>A (p.Ser1777Arg) c.5604C>A (p.Ser1868Arg) c.1752C>A (p.Ser584Arg) n.959C>A n.7011C>A n.132+2974G>T | |
2 | g.215376512C>A | CA350471138 | FN1 | c.5873G>T (p.Ser1958Ile) c.5600G>T (p.Ser1867Ile) c.5330G>T (p.Ser1777Ile) c.5603G>T (p.Ser1868Ile) c.1751G>T (p.Ser584Ile) n.958G>T n.7010G>T n.132+2975C>A | |
2 | g.215376512C>G | CA350471137 | FN1 | c.5873G>C (p.Ser1958Thr) c.5600G>C (p.Ser1867Thr) c.5330G>C (p.Ser1777Thr) c.5603G>C (p.Ser1868Thr) c.1751G>C (p.Ser584Thr) n.958G>C n.7010G>C n.132+2975C>G | |
2 | g.215376512C>T | CA350471135 | FN1 | c.5873G>A (p.Ser1958Asn) c.5600G>A (p.Ser1867Asn) c.5330G>A (p.Ser1777Asn) c.5603G>A (p.Ser1868Asn) c.1751G>A (p.Ser584Asn) n.958G>A n.7010G>A n.132+2975C>T | |
2 | g.215376513T>A | CA350471140 | FN1 | c.5872A>T (p.Ser1958Cys) c.5599A>T (p.Ser1867Cys) c.5329A>T (p.Ser1777Cys) c.5602A>T (p.Ser1868Cys) c.1750A>T (p.Ser584Cys) n.957A>T n.7009A>T n.132+2976T>A | |
2 | g.215376513T>C | CA350471144 | FN1 | c.5872A>G (p.Ser1958Gly) c.5599A>G (p.Ser1867Gly) c.5329A>G (p.Ser1777Gly) c.5602A>G (p.Ser1868Gly) c.1750A>G (p.Ser584Gly) n.957A>G n.7009A>G n.132+2976T>C | |
2 | g.215376513T>G | CA350471142 | FN1 | c.5872A>C (p.Ser1958Arg) c.5599A>C (p.Ser1867Arg) c.5329A>C (p.Ser1777Arg) c.5602A>C (p.Ser1868Arg) c.1750A>C (p.Ser584Arg) n.957A>C n.7009A>C n.132+2976T>G | |
2 | g.215376514T>A | CA350471146 | FN1 | c.5871A>T (p.Arg1957Ser) c.5598A>T (p.Arg1866Ser) c.5328A>T (p.Arg1776Ser) c.5601A>T (p.Arg1867Ser) c.1749A>T (p.Arg583Ser) n.956A>T n.7008A>T n.132+2977T>A | |
2 | g.215376514T>C | CA431154946 | FN1 | c.5871A>G (p.Arg1957=) c.5598A>G (p.Arg1866=) c.5328A>G (p.Arg1776=) c.5601A>G (p.Arg1867=) c.1749A>G (p.Arg583=) n.956A>G n.7008A>G n.132+2977T>C | |
2 | g.215376514T>G | CA350471148 | FN1 | c.5871A>C (p.Arg1957Ser) c.5598A>C (p.Arg1866Ser) c.5328A>C (p.Arg1776Ser) c.5601A>C (p.Arg1867Ser) c.1749A>C (p.Arg583Ser) n.956A>C n.7008A>C n.132+2977T>G | |
2 | g.215376515C>A | CA350471150 | FN1 | c.5870G>T (p.Arg1957Ile) c.5597G>T (p.Arg1866Ile) c.5327G>T (p.Arg1776Ile) c.5600G>T (p.Arg1867Ile) c.1748G>T (p.Arg583Ile) n.955G>T n.7007G>T n.132+2978C>A | |
2 | g.215376515C= | CA1327346849 | FN1 | c.5870G= (p.Arg1957=) c.5597G= (p.Arg1866=) c.5327G= (p.Arg1776=) c.5600G= (p.Arg1867=) c.1748G= (p.Arg583=) n.955G= n.7007G= n.132+2978C= | |
2 | g.215376515C>G | CA350471151 | FN1 | c.5870G>C (p.Arg1957Thr) c.5597G>C (p.Arg1866Thr) c.5327G>C (p.Arg1776Thr) c.5600G>C (p.Arg1867Thr) c.1748G>C (p.Arg583Thr) n.955G>C n.7007G>C n.132+2978C>G | |
2 | g.215376515C>T | CA350471153 | FN1 | c.5870G>A (p.Arg1957Lys) c.5597G>A (p.Arg1866Lys) c.5327G>A (p.Arg1776Lys) c.5600G>A (p.Arg1867Lys) c.1748G>A (p.Arg583Lys) n.955G>A n.7007G>A n.132+2978C>T | dbSNP |
2 | g.215376516T>A | CA350471156 | FN1 | c.5869A>T (p.Arg1957Ter) c.5596A>T (p.Arg1866Ter) c.5326A>T (p.Arg1776Ter) c.5599A>T (p.Arg1867Ter) c.1747A>T (p.Arg583Ter) n.954A>T n.7006A>T n.132+2979T>A | |
2 | g.215376516T>C | CA350471162 | FN1 | c.5869A>G (p.Arg1957Gly) c.5596A>G (p.Arg1866Gly) c.5326A>G (p.Arg1776Gly) c.5599A>G (p.Arg1867Gly) c.1747A>G (p.Arg583Gly) n.954A>G n.7006A>G n.132+2979T>C | |
2 | g.215376516T>G | CA431154947 | FN1 | c.5869A>C (p.Arg1957=) c.5596A>C (p.Arg1866=) c.5326A>C (p.Arg1776=) c.5599A>C (p.Arg1867=) c.1747A>C (p.Arg583=) n.954A>C n.7006A>C n.132+2979T>G | |
2 | g.215376517G>A | CA431154948 | FN1 | c.5868C>T (p.Val1956=) c.5595C>T (p.Val1865=) c.5325C>T (p.Val1775=) c.5598C>T (p.Val1866=) c.1746C>T (p.Val582=) n.953C>T n.7005C>T n.132+2980G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376517G>C | CA431154949 | FN1 | c.5868C>G (p.Val1956=) c.5595C>G (p.Val1865=) c.5325C>G (p.Val1775=) c.5598C>G (p.Val1866=) c.1746C>G (p.Val582=) n.953C>G n.7005C>G n.132+2980G>C | |
2 | g.215376517G= | CA1327346850 | FN1 | c.5868C= (p.Val1956=) c.5595C= (p.Val1865=) c.5325C= (p.Val1775=) c.5598C= (p.Val1866=) c.1746C= (p.Val582=) n.953C= n.7005C= n.132+2980G= | |
2 | g.215376517G>T | CA431154950 | FN1 | c.5868C>A (p.Val1956=) c.5595C>A (p.Val1865=) c.5325C>A (p.Val1775=) c.5598C>A (p.Val1866=) c.1746C>A (p.Val582=) n.953C>A n.7005C>A n.132+2980G>T | |
2 | g.215376518A= | CA1327346851 | FN1 | c.5867T= (p.Val1956=) c.5594T= (p.Val1865=) c.5324T= (p.Val1775=) c.5597T= (p.Val1866=) c.1745T= (p.Val582=) n.952T= n.7004T= n.132+2981A= | |
2 | g.215376518A>C | CA2094020 | FN1 | c.5867T>G (p.Val1956Gly) c.5594T>G (p.Val1865Gly) c.5324T>G (p.Val1775Gly) c.5597T>G (p.Val1866Gly) c.1745T>G (p.Val582Gly) n.952T>G n.7004T>G n.132+2981A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215376518A>G | CA350471166 | FN1 | c.5867T>C (p.Val1956Ala) c.5594T>C (p.Val1865Ala) c.5324T>C (p.Val1775Ala) c.5597T>C (p.Val1866Ala) c.1745T>C (p.Val582Ala) n.952T>C n.7004T>C n.132+2981A>G | |
2 | g.215376518A>T | CA350471167 | FN1 | c.5867T>A (p.Val1956Asp) c.5594T>A (p.Val1865Asp) c.5324T>A (p.Val1775Asp) c.5597T>A (p.Val1866Asp) c.1745T>A (p.Val582Asp) n.952T>A n.7004T>A n.132+2981A>T | gnomAD v4 |
2 | g.215376519C>A | CA350471169 | FN1 | c.5866G>T (p.Val1956Phe) c.5593G>T (p.Val1865Phe) c.5323G>T (p.Val1775Phe) c.5596G>T (p.Val1866Phe) c.1744G>T (p.Val582Phe) n.951G>T n.7003G>T n.132+2982C>A | |
2 | g.215376519C>G | CA350471171 | FN1 | c.5866G>C (p.Val1956Leu) c.5593G>C (p.Val1865Leu) c.5323G>C (p.Val1775Leu) c.5596G>C (p.Val1866Leu) c.1744G>C (p.Val582Leu) n.951G>C n.7003G>C n.132+2982C>G | |
2 | g.215376519C>T | CA350471172 | FN1 | c.5866G>A (p.Val1956Ile) c.5593G>A (p.Val1865Ile) c.5323G>A (p.Val1775Ile) c.5596G>A (p.Val1866Ile) c.1744G>A (p.Val582Ile) n.951G>A n.7003G>A n.132+2982C>T | |
2 | g.215376520A>C | CA350471174 | FN1 | c.5865T>G (p.Asp1955Glu) c.5592T>G (p.Asp1864Glu) c.5322T>G (p.Asp1774Glu) c.5595T>G (p.Asp1865Glu) c.1743T>G (p.Asp581Glu) n.950T>G n.7002T>G n.132+2983A>C | |
2 | g.215376520A>G | CA431154951 | FN1 | c.5865T>C (p.Asp1955=) c.5592T>C (p.Asp1864=) c.5322T>C (p.Asp1774=) c.5595T>C (p.Asp1865=) c.1743T>C (p.Asp581=) n.950T>C n.7002T>C n.132+2983A>G | |
2 | g.215376520A>T | CA350471175 | FN1 | c.5865T>A (p.Asp1955Glu) c.5592T>A (p.Asp1864Glu) c.5322T>A (p.Asp1774Glu) c.5595T>A (p.Asp1865Glu) c.1743T>A (p.Asp581Glu) n.950T>A n.7002T>A n.132+2983A>T | |
2 | g.215376521T>A | CA350471176 | FN1 | c.5864A>T (p.Asp1955Val) c.5591A>T (p.Asp1864Val) c.5321A>T (p.Asp1774Val) c.5594A>T (p.Asp1865Val) c.1742A>T (p.Asp581Val) n.949A>T n.7001A>T n.132+2984T>A | |
2 | g.215376521T>C | CA350471178 | FN1 | c.5864A>G (p.Asp1955Gly) c.5591A>G (p.Asp1864Gly) c.5321A>G (p.Asp1774Gly) c.5594A>G (p.Asp1865Gly) c.1742A>G (p.Asp581Gly) n.949A>G n.7001A>G n.132+2984T>C | |
2 | g.215376521T>G | CA350471181 | FN1 | c.5864A>C (p.Asp1955Ala) c.5591A>C (p.Asp1864Ala) c.5321A>C (p.Asp1774Ala) c.5594A>C (p.Asp1865Ala) c.1742A>C (p.Asp581Ala) n.949A>C n.7001A>C n.132+2984T>G | |
2 | g.215376522C>A | CA350471183 | FN1 | c.5863G>T (p.Asp1955Tyr) c.5590G>T (p.Asp1864Tyr) c.5320G>T (p.Asp1774Tyr) c.5593G>T (p.Asp1865Tyr) c.1741G>T (p.Asp581Tyr) n.948G>T n.7000G>T n.132+2985C>A | |
2 | g.215376522C>G | CA350471185 | FN1 | c.5863G>C (p.Asp1955His) c.5590G>C (p.Asp1864His) c.5320G>C (p.Asp1774His) c.5593G>C (p.Asp1865His) c.1741G>C (p.Asp581His) n.948G>C n.7000G>C n.132+2985C>G | |
2 | g.215376522C>T | CA350471186 | FN1 | c.5863G>A (p.Asp1955Asn) c.5590G>A (p.Asp1864Asn) c.5320G>A (p.Asp1774Asn) c.5593G>A (p.Asp1865Asn) c.1741G>A (p.Asp581Asn) n.948G>A n.7000G>A n.132+2985C>T | |
2 | g.215376523T>A | CA431154952 | FN1 | c.5862A>T (p.Pro1954=) c.5589A>T (p.Pro1863=) c.5319A>T (p.Pro1773=) c.5592A>T (p.Pro1864=) c.1740A>T (p.Pro580=) n.947A>T n.6999A>T n.132+2986T>A | |
2 | g.215376523T>C | CA431154953 | FN1 | c.5862A>G (p.Pro1954=) c.5589A>G (p.Pro1863=) c.5319A>G (p.Pro1773=) c.5592A>G (p.Pro1864=) c.1740A>G (p.Pro580=) n.947A>G n.6999A>G n.132+2986T>C | |
2 | g.215376523T>G | CA431154954 | FN1 | c.5862A>C (p.Pro1954=) c.5589A>C (p.Pro1863=) c.5319A>C (p.Pro1773=) c.5592A>C (p.Pro1864=) c.1740A>C (p.Pro580=) n.947A>C n.6999A>C n.132+2986T>G | |
2 | g.215376524G>A | CA350471188 | FN1 | c.5861C>T (p.Pro1954Leu) c.5588C>T (p.Pro1863Leu) c.5318C>T (p.Pro1773Leu) c.5591C>T (p.Pro1864Leu) c.1739C>T (p.Pro580Leu) n.946C>T n.6998C>T n.132+2987G>A | gnomAD v4 |
2 | g.215376524G>C | CA350471190 | FN1 | c.5861C>G (p.Pro1954Arg) c.5588C>G (p.Pro1863Arg) c.5318C>G (p.Pro1773Arg) c.5591C>G (p.Pro1864Arg) c.1739C>G (p.Pro580Arg) n.946C>G n.6998C>G n.132+2987G>C | |
2 | g.215376524G= | CA1327346852 | FN1 | c.5861C= (p.Pro1954=) c.5588C= (p.Pro1863=) c.5318C= (p.Pro1773=) c.5591C= (p.Pro1864=) c.1739C= (p.Pro580=) n.946C= n.6998C= n.132+2987G= | |
2 | g.215376524G>T | CA350471192 | FN1 | c.5861C>A (p.Pro1954Gln) c.5588C>A (p.Pro1863Gln) c.5318C>A (p.Pro1773Gln) c.5591C>A (p.Pro1864Gln) c.1739C>A (p.Pro580Gln) n.946C>A n.6998C>A n.132+2987G>T | dbSNP gnomAD v4 |
2 | g.215376525G>A | CA350471193 | FN1 | c.5860C>T (p.Pro1954Ser) c.5587C>T (p.Pro1863Ser) c.5317C>T (p.Pro1773Ser) c.5590C>T (p.Pro1864Ser) c.1738C>T (p.Pro580Ser) n.945C>T n.6997C>T n.132+2988G>A | |
2 | g.215376525G>C | CA2094021 | FN1 | c.5860C>G (p.Pro1954Ala) c.5587C>G (p.Pro1863Ala) c.5317C>G (p.Pro1773Ala) c.5590C>G (p.Pro1864Ala) c.1738C>G (p.Pro580Ala) n.945C>G n.6997C>G n.132+2988G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376525G= | CA1327346853 | FN1 | c.5860C= (p.Pro1954=) c.5587C= (p.Pro1863=) c.5317C= (p.Pro1773=) c.5590C= (p.Pro1864=) c.1738C= (p.Pro580=) n.945C= n.6997C= n.132+2988G= | |
2 | g.215376525G>T | CA350471196 | FN1 | c.5860C>A (p.Pro1954Thr) c.5587C>A (p.Pro1863Thr) c.5317C>A (p.Pro1773Thr) c.5590C>A (p.Pro1864Thr) c.1738C>A (p.Pro580Thr) n.945C>A n.6997C>A n.132+2988G>T | |
2 | g.215376526C>A | CA350471198 | FN1 | c.5859G>T (p.Lys1953Asn) c.5586G>T (p.Lys1862Asn) c.5316G>T (p.Lys1772Asn) c.5589G>T (p.Lys1863Asn) c.1737G>T (p.Lys579Asn) n.944G>T n.6996G>T n.132+2989C>A | |
2 | g.215376526C>G | CA350471200 | FN1 | c.5859G>C (p.Lys1953Asn) c.5586G>C (p.Lys1862Asn) c.5316G>C (p.Lys1772Asn) c.5589G>C (p.Lys1863Asn) c.1737G>C (p.Lys579Asn) n.944G>C n.6996G>C n.132+2989C>G | |
2 | g.215376526C>T | CA431154955 | FN1 | c.5859G>A (p.Lys1953=) c.5586G>A (p.Lys1862=) c.5316G>A (p.Lys1772=) c.5589G>A (p.Lys1863=) c.1737G>A (p.Lys579=) n.944G>A n.6996G>A n.132+2989C>T | |
2 | g.215376527T>A | CA350471203 | FN1 | c.5858A>T (p.Lys1953Met) c.5585A>T (p.Lys1862Met) c.5315A>T (p.Lys1772Met) c.5588A>T (p.Lys1863Met) c.1736A>T (p.Lys579Met) n.943A>T n.6995A>T n.132+2990T>A | ClinVar |
2 | g.215376527T>C | CA350471205 | FN1 | c.5858A>G (p.Lys1953Arg) c.5585A>G (p.Lys1862Arg) c.5315A>G (p.Lys1772Arg) c.5588A>G (p.Lys1863Arg) c.1736A>G (p.Lys579Arg) n.943A>G n.6995A>G n.132+2990T>C | |
2 | g.215376527T>G | CA350471207 | FN1 | c.5858A>C (p.Lys1953Thr) c.5585A>C (p.Lys1862Thr) c.5315A>C (p.Lys1772Thr) c.5588A>C (p.Lys1863Thr) c.1736A>C (p.Lys579Thr) n.943A>C n.6995A>C n.132+2990T>G | |
2 | g.215376528T>A | CA350471209 | FN1 | c.5857A>T (p.Lys1953Ter) c.5584A>T (p.Lys1862Ter) c.5314A>T (p.Lys1772Ter) c.5587A>T (p.Lys1863Ter) c.1735A>T (p.Lys579Ter) n.942A>T n.6994A>T n.132+2991T>A | |
2 | g.215376528T>C | CA2094022 | FN1 | c.5857A>G (p.Lys1953Glu) c.5584A>G (p.Lys1862Glu) c.5314A>G (p.Lys1772Glu) c.5587A>G (p.Lys1863Glu) c.1735A>G (p.Lys579Glu) n.942A>G n.6994A>G n.132+2991T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376528T>G | CA350471211 | FN1 | c.5857A>C (p.Lys1953Gln) c.5584A>C (p.Lys1862Gln) c.5314A>C (p.Lys1772Gln) c.5587A>C (p.Lys1863Gln) c.1735A>C (p.Lys579Gln) n.942A>C n.6994A>C n.132+2991T>G | |
2 | g.215376528T= | CA1327346854 | FN1 | c.5857A= (p.Lys1953=) c.5584A= (p.Lys1862=) c.5314A= (p.Lys1772=) c.5587A= (p.Lys1863=) c.1735A= (p.Lys579=) n.942A= n.6994A= n.132+2991T= | |
2 | g.215376529G>A | CA431154957 | FN1 | c.5856C>T (p.Ile1952=) c.5583C>T (p.Ile1861=) c.5313C>T (p.Ile1771=) c.5586C>T (p.Ile1862=) c.1734C>T (p.Ile578=) n.941C>T n.6993C>T n.132+2992G>A | gnomAD v4 |
2 | g.215376529G>C | CA350471213 | FN1 | c.5856C>G (p.Ile1952Met) c.5583C>G (p.Ile1861Met) c.5313C>G (p.Ile1771Met) c.5586C>G (p.Ile1862Met) c.1734C>G (p.Ile578Met) n.941C>G n.6993C>G n.132+2992G>C | gnomAD v4 |
2 | g.215376529G>T | CA431154956 | FN1 | c.5856C>A (p.Ile1952=) c.5583C>A (p.Ile1861=) c.5313C>A (p.Ile1771=) c.5586C>A (p.Ile1862=) c.1734C>A (p.Ile578=) n.941C>A n.6993C>A n.132+2992G>T | |
2 | g.215376530A= | CA1327346855 | FN1 | c.5855T= (p.Ile1952=) c.5582T= (p.Ile1861=) c.5312T= (p.Ile1771=) c.5585T= (p.Ile1862=) c.1733T= (p.Ile578=) n.940T= n.6992T= n.132+2993A= | |
2 | g.215376530A>C | CA350471215 | FN1 | c.5855T>G (p.Ile1952Ser) c.5582T>G (p.Ile1861Ser) c.5312T>G (p.Ile1771Ser) c.5585T>G (p.Ile1862Ser) c.1733T>G (p.Ile578Ser) n.940T>G n.6992T>G n.132+2993A>C | gnomAD v4 |
2 | g.215376530A>G | CA64849958 | FN1 | c.5855T>C (p.Ile1952Thr) c.5582T>C (p.Ile1861Thr) c.5312T>C (p.Ile1771Thr) c.5585T>C (p.Ile1862Thr) c.1733T>C (p.Ile578Thr) n.940T>C n.6992T>C n.132+2993A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215376530A>T | CA350471216 | FN1 | c.5855T>A (p.Ile1952Asn) c.5582T>A (p.Ile1861Asn) c.5312T>A (p.Ile1771Asn) c.5585T>A (p.Ile1862Asn) c.1733T>A (p.Ile578Asn) n.940T>A n.6992T>A n.132+2993A>T | COSMIC COSMIC |
2 | g.215376531T>A | CA350471218 | FN1 | c.5854A>T (p.Ile1952Phe) c.5581A>T (p.Ile1861Phe) c.5311A>T (p.Ile1771Phe) c.5584A>T (p.Ile1862Phe) c.1732A>T (p.Ile578Phe) n.939A>T n.6991A>T n.132+2994T>A | |
2 | g.215376531T>C | CA350471222 | FN1 | c.5854A>G (p.Ile1952Val) c.5581A>G (p.Ile1861Val) c.5311A>G (p.Ile1771Val) c.5584A>G (p.Ile1862Val) c.1732A>G (p.Ile578Val) n.939A>G n.6991A>G n.132+2994T>C | dbSNP gnomAD v4 |
2 | g.215376531T>G | CA350471224 | FN1 | c.5854A>C (p.Ile1952Leu) c.5581A>C (p.Ile1861Leu) c.5311A>C (p.Ile1771Leu) c.5584A>C (p.Ile1862Leu) c.1732A>C (p.Ile578Leu) n.939A>C n.6991A>C n.132+2994T>G | dbSNP |
2 | g.215376531T= | CA1327346856 | FN1 | c.5854A= (p.Ile1952=) c.5581A= (p.Ile1861=) c.5311A= (p.Ile1771=) c.5584A= (p.Ile1862=) c.1732A= (p.Ile578=) n.939A= n.6991A= n.132+2994T= | |
2 | g.215376532G>A | CA431154958 | FN1 | c.5853C>T (p.Thr1951=) c.5580C>T (p.Thr1860=) c.5310C>T (p.Thr1770=) c.5583C>T (p.Thr1861=) c.1731C>T (p.Thr577=) n.938C>T n.6990C>T n.132+2995G>A | |
2 | g.215376532G>C | CA431154960 | FN1 | c.5853C>G (p.Thr1951=) c.5580C>G (p.Thr1860=) c.5310C>G (p.Thr1770=) c.5583C>G (p.Thr1861=) c.1731C>G (p.Thr577=) n.938C>G n.6990C>G n.132+2995G>C | |
2 | g.215376532G>T | CA431154959 | FN1 | c.5853C>A (p.Thr1951=) c.5580C>A (p.Thr1860=) c.5310C>A (p.Thr1770=) c.5583C>A (p.Thr1861=) c.1731C>A (p.Thr577=) n.938C>A n.6990C>A n.132+2995G>T | |
2 | g.215376533G>A | CA350471229 | FN1 | c.5852C>T (p.Thr1951Ile) c.5579C>T (p.Thr1860Ile) c.5309C>T (p.Thr1770Ile) c.5582C>T (p.Thr1861Ile) c.1730C>T (p.Thr577Ile) n.937C>T n.6989C>T n.132+2996G>A | gnomAD v4 |
2 | g.215376533G>C | CA350471226 | FN1 | c.5852C>G (p.Thr1951Ser) c.5579C>G (p.Thr1860Ser) c.5309C>G (p.Thr1770Ser) c.5582C>G (p.Thr1861Ser) c.1730C>G (p.Thr577Ser) n.937C>G n.6989C>G n.132+2996G>C | gnomAD v4 |
2 | g.215376533G>T | CA350471227 | FN1 | c.5852C>A (p.Thr1951Asn) c.5579C>A (p.Thr1860Asn) c.5309C>A (p.Thr1770Asn) c.5582C>A (p.Thr1861Asn) c.1730C>A (p.Thr577Asn) n.937C>A n.6989C>A n.132+2996G>T | |
2 | g.215376534T>A | CA350471231 | FN1 | c.5851A>T (p.Thr1951Ser) c.5578A>T (p.Thr1860Ser) c.5308A>T (p.Thr1770Ser) c.5581A>T (p.Thr1861Ser) c.1729A>T (p.Thr577Ser) n.936A>T n.6988A>T n.132+2997T>A | |
2 | g.215376534T>C | CA350471232 | FN1 | c.5851A>G (p.Thr1951Ala) c.5578A>G (p.Thr1860Ala) c.5308A>G (p.Thr1770Ala) c.5581A>G (p.Thr1861Ala) c.1729A>G (p.Thr577Ala) n.936A>G n.6988A>G n.132+2997T>C | gnomAD v4 |
2 | g.215376534T>G | CA350471235 | FN1 | c.5851A>C (p.Thr1951Pro) c.5578A>C (p.Thr1860Pro) c.5308A>C (p.Thr1770Pro) c.5581A>C (p.Thr1861Pro) c.1729A>C (p.Thr577Pro) n.936A>C n.6988A>C n.132+2997T>G | |
2 | g.215376535T>A | CA350471237 | FN1 | c.5850A>T (p.Arg1950Ser) c.5577A>T (p.Arg1859Ser) c.5307A>T (p.Arg1769Ser) c.5580A>T (p.Arg1860Ser) c.1728A>T (p.Arg576Ser) n.935A>T n.6987A>T n.132+2998T>A | |
2 | g.215376535T>C | CA431154961 | FN1 | c.5850A>G (p.Arg1950=) c.5577A>G (p.Arg1859=) c.5307A>G (p.Arg1769=) c.5580A>G (p.Arg1860=) c.1728A>G (p.Arg576=) n.935A>G n.6987A>G n.132+2998T>C | |
2 | g.215376535T>G | CA350471238 | FN1 | c.5850A>C (p.Arg1950Ser) c.5577A>C (p.Arg1859Ser) c.5307A>C (p.Arg1769Ser) c.5580A>C (p.Arg1860Ser) c.1728A>C (p.Arg576Ser) n.935A>C n.6987A>C n.132+2998T>G | |
2 | g.215376536C>A | CA350471241 | FN1 | c.5849G>T (p.Arg1950Ile) c.5576G>T (p.Arg1859Ile) c.5306G>T (p.Arg1769Ile) c.5579G>T (p.Arg1860Ile) c.1727G>T (p.Arg576Ile) n.934G>T n.6986G>T n.132+2999C>A | |
2 | g.215376536C>G | CA350471242 | FN1 | c.5849G>C (p.Arg1950Thr) c.5576G>C (p.Arg1859Thr) c.5306G>C (p.Arg1769Thr) c.5579G>C (p.Arg1860Thr) c.1727G>C (p.Arg576Thr) n.934G>C n.6986G>C n.132+2999C>G | gnomAD v4 |
2 | g.215376536C>T | CA350471249 | FN1 | c.5849G>A (p.Arg1950Lys) c.5576G>A (p.Arg1859Lys) c.5306G>A (p.Arg1769Lys) c.5579G>A (p.Arg1860Lys) c.1727G>A (p.Arg576Lys) n.934G>A n.6986G>A n.132+2999C>T | gnomAD v4 |
2 | g.215376537T>A | CA350471250 | FN1 | c.5848A>T (p.Arg1950Ter) c.5575A>T (p.Arg1859Ter) c.5305A>T (p.Arg1769Ter) c.5578A>T (p.Arg1860Ter) c.1726A>T (p.Arg576Ter) n.933A>T n.6985A>T n.132+3000T>A | |
2 | g.215376537T>C | CA350471251 | FN1 | c.5848A>G (p.Arg1950Gly) c.5575A>G (p.Arg1859Gly) c.5305A>G (p.Arg1769Gly) c.5578A>G (p.Arg1860Gly) c.1726A>G (p.Arg576Gly) n.933A>G n.6985A>G n.132+3000T>C | |
2 | g.215376537T>G | CA431154962 | FN1 | c.5848A>C (p.Arg1950=) c.5575A>C (p.Arg1859=) c.5305A>C (p.Arg1769=) c.5578A>C (p.Arg1860=) c.1726A>C (p.Arg576=) n.933A>C n.6985A>C n.132+3000T>G | |
2 | g.215376538C>A | CA350471253 | FN1 | c.5847G>T (p.Gln1949His) c.5574G>T (p.Gln1858His) c.5304G>T (p.Gln1768His) c.5577G>T (p.Gln1859His) c.1725G>T (p.Gln575His) n.932G>T n.6984G>T n.132+3001C>A | |
2 | g.215376538C= | CA1327346857 | FN1 | c.5847G= (p.Gln1949=) c.5574G= (p.Gln1858=) c.5304G= (p.Gln1768=) c.5577G= (p.Gln1859=) c.1725G= (p.Gln575=) n.932G= n.6984G= n.132+3001C= | |
2 | g.215376538C>G | CA350471255 | FN1 | c.5847G>C (p.Gln1949His) c.5574G>C (p.Gln1858His) c.5304G>C (p.Gln1768His) c.5577G>C (p.Gln1859His) c.1725G>C (p.Gln575His) n.932G>C n.6984G>C n.132+3001C>G | |
2 | g.215376538C>T | CA431154963 | FN1 | c.5847G>A (p.Gln1949=) c.5574G>A (p.Gln1858=) c.5304G>A (p.Gln1768=) c.5577G>A (p.Gln1859=) c.1725G>A (p.Gln575=) n.932G>A n.6984G>A n.132+3001C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215376539T>A | CA350471257 | FN1 | c.5846A>T (p.Gln1949Leu) c.5573A>T (p.Gln1858Leu) c.5303A>T (p.Gln1768Leu) c.5576A>T (p.Gln1859Leu) c.1724A>T (p.Gln575Leu) n.931A>T n.6983A>T n.132+3002T>A | |
2 | g.215376539T>C | CA350471258 | FN1 | c.5846A>G (p.Gln1949Arg) c.5573A>G (p.Gln1858Arg) c.5303A>G (p.Gln1768Arg) c.5576A>G (p.Gln1859Arg) c.1724A>G (p.Gln575Arg) n.931A>G n.6983A>G n.132+3002T>C | |
2 | g.215376539T>G | CA350471256 | FN1 | c.5846A>C (p.Gln1949Pro) c.5573A>C (p.Gln1858Pro) c.5303A>C (p.Gln1768Pro) c.5576A>C (p.Gln1859Pro) c.1724A>C (p.Gln575Pro) n.931A>C n.6983A>C n.132+3002T>G | |
2 | g.215376540G>A | CA350471259 | FN1 | c.5845C>T (p.Gln1949Ter) c.5572C>T (p.Gln1858Ter) c.5302C>T (p.Gln1768Ter) c.5575C>T (p.Gln1859Ter) c.1723C>T (p.Gln575Ter) n.930C>T n.6982C>T n.132+3003G>A | |
2 | g.215376540G>C | CA350471261 | FN1 | c.5845C>G (p.Gln1949Glu) c.5572C>G (p.Gln1858Glu) c.5302C>G (p.Gln1768Glu) c.5575C>G (p.Gln1859Glu) c.1723C>G (p.Gln575Glu) n.930C>G n.6982C>G n.132+3003G>C | |
2 | g.215376540G>T | CA350471263 | FN1 | c.5845C>A (p.Gln1949Lys) c.5572C>A (p.Gln1858Lys) c.5302C>A (p.Gln1768Lys) c.5575C>A (p.Gln1859Lys) c.1723C>A (p.Gln575Lys) n.930C>A n.6982C>A n.132+3003G>T | |
2 | g.215376541G>A | CA431154964 | FN1 | c.5844C>T (p.Ile1948=) c.5571C>T (p.Ile1857=) c.5301C>T (p.Ile1767=) c.5574C>T (p.Ile1858=) c.1722C>T (p.Ile574=) n.929C>T n.6981C>T n.132+3004G>A | |
2 | g.215376541G>C | CA350471265 | FN1 | c.5844C>G (p.Ile1948Met) c.5571C>G (p.Ile1857Met) c.5301C>G (p.Ile1767Met) c.5574C>G (p.Ile1858Met) c.1722C>G (p.Ile574Met) n.929C>G n.6981C>G n.132+3004G>C | |
2 | g.215376541G>T | CA431154965 | FN1 | c.5844C>A (p.Ile1948=) c.5571C>A (p.Ile1857=) c.5301C>A (p.Ile1767=) c.5574C>A (p.Ile1858=) c.1722C>A (p.Ile574=) n.929C>A n.6981C>A n.132+3004G>T | |
2 | g.215376542A>C | CA350471267 | FN1 | c.5843T>G (p.Ile1948Ser) c.5570T>G (p.Ile1857Ser) c.5300T>G (p.Ile1767Ser) c.5573T>G (p.Ile1858Ser) c.1721T>G (p.Ile574Ser) n.928T>G n.6980T>G n.132+3005A>C | |
2 | g.215376542A>G | CA350471269 | FN1 | c.5843T>C (p.Ile1948Thr) c.5570T>C (p.Ile1857Thr) c.5300T>C (p.Ile1767Thr) c.5573T>C (p.Ile1858Thr) c.1721T>C (p.Ile574Thr) n.928T>C n.6980T>C n.132+3005A>G | |
2 | g.215376542A>T | CA350471276 | FN1 | c.5843T>A (p.Ile1948Asn) c.5570T>A (p.Ile1857Asn) c.5300T>A (p.Ile1767Asn) c.5573T>A (p.Ile1858Asn) c.1721T>A (p.Ile574Asn) n.928T>A n.6980T>A n.132+3005A>T | |
2 | g.215376543T>A | CA350471278 | FN1 | c.5842A>T (p.Ile1948Phe) c.5569A>T (p.Ile1857Phe) c.5299A>T (p.Ile1767Phe) c.5572A>T (p.Ile1858Phe) c.1720A>T (p.Ile574Phe) n.927A>T n.6979A>T n.132+3006T>A | |
2 | g.215376543T>C | CA64849968 | FN1 | c.5842A>G (p.Ile1948Val) c.5569A>G (p.Ile1857Val) c.5299A>G (p.Ile1767Val) c.5572A>G (p.Ile1858Val) c.1720A>G (p.Ile574Val) n.927A>G n.6979A>G n.132+3006T>C | ClinVar dbSNP gnomAD v4 |
2 | g.215376543T>G | CA350471279 | FN1 | c.5842A>C (p.Ile1948Leu) c.5569A>C (p.Ile1857Leu) c.5299A>C (p.Ile1767Leu) c.5572A>C (p.Ile1858Leu) c.1720A>C (p.Ile574Leu) n.927A>C n.6979A>C n.132+3006T>G | |
2 | g.215376543T= | CA1327346858 | FN1 | c.5842A= (p.Ile1948=) c.5569A= (p.Ile1857=) c.5299A= (p.Ile1767=) c.5572A= (p.Ile1858=) c.1720A= (p.Ile574=) n.927A= n.6979A= n.132+3006T= | |
2 | g.215376544T>A | CA431154966 | FN1 | c.5841A>T (p.Pro1947=) c.5568A>T (p.Pro1856=) c.5298A>T (p.Pro1766=) c.5571A>T (p.Pro1857=) c.1719A>T (p.Pro573=) n.926A>T n.6978A>T n.132+3007T>A | |
2 | g.215376544T>C | CA431154967 | FN1 | c.5841A>G (p.Pro1947=) c.5568A>G (p.Pro1856=) c.5298A>G (p.Pro1766=) c.5571A>G (p.Pro1857=) c.1719A>G (p.Pro573=) n.926A>G n.6978A>G n.132+3007T>C | |
2 | g.215376544T>G | CA2094023 | FN1 | c.5841A>C (p.Pro1947=) c.5568A>C (p.Pro1856=) c.5298A>C (p.Pro1766=) c.5571A>C (p.Pro1857=) c.1719A>C (p.Pro573=) n.926A>C n.6978A>C n.132+3007T>G | dbSNP ExAC gnomAD v2 |
2 | g.215376544T= | CA1327346859 | FN1 | c.5841A= (p.Pro1947=) c.5568A= (p.Pro1856=) c.5298A= (p.Pro1766=) c.5571A= (p.Pro1857=) c.1719A= (p.Pro573=) n.926A= n.6978A= n.132+3007T= | |
2 | g.215376545G>A | CA350471281 | FN1 | c.5840C>T (p.Pro1947Leu) c.5567C>T (p.Pro1856Leu) c.5297C>T (p.Pro1766Leu) c.5570C>T (p.Pro1857Leu) c.1718C>T (p.Pro573Leu) n.925C>T n.6977C>T n.132+3008G>A | |
2 | g.215376545G>C | CA350471282 | FN1 | c.5840C>G (p.Pro1947Arg) c.5567C>G (p.Pro1856Arg) c.5297C>G (p.Pro1766Arg) c.5570C>G (p.Pro1857Arg) c.1718C>G (p.Pro573Arg) n.925C>G n.6977C>G n.132+3008G>C | |
2 | g.215376545G>T | CA350471283 | FN1 | c.5840C>A (p.Pro1947Gln) c.5567C>A (p.Pro1856Gln) c.5297C>A (p.Pro1766Gln) c.5570C>A (p.Pro1857Gln) c.1718C>A (p.Pro573Gln) n.925C>A n.6977C>A n.132+3008G>T | |
2 | g.215376546dup | CA539838035 | FN1 | c.5840dup (p.Ile1948AsnfsTer22) c.5567dup (p.Ile1857AsnfsTer22) c.5297dup (p.Ile1767AsnfsTer22) c.5570dup (p.Ile1858AsnfsTer22) c.1718dup (p.Ile574AsnfsTer22) n.925dup n.6977dup n.132+3009dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376546G>A | CA350471287 | FN1 | c.5839C>T (p.Pro1947Ser) c.5566C>T (p.Pro1856Ser) c.5296C>T (p.Pro1766Ser) c.5569C>T (p.Pro1857Ser) c.1717C>T (p.Pro573Ser) n.924C>T n.6976C>T n.132+3009G>A | |
2 | g.215376546G>C | CA350471284 | FN1 | c.5839C>G (p.Pro1947Ala) c.5566C>G (p.Pro1856Ala) c.5296C>G (p.Pro1766Ala) c.5569C>G (p.Pro1857Ala) c.1717C>G (p.Pro573Ala) n.924C>G n.6976C>G n.132+3009G>C | |
2 | g.215376546G>T | CA350471285 | FN1 | c.5839C>A (p.Pro1947Thr) c.5566C>A (p.Pro1856Thr) c.5296C>A (p.Pro1766Thr) c.5569C>A (p.Pro1857Thr) c.1717C>A (p.Pro573Thr) n.924C>A n.6976C>A n.132+3009G>T | |
2 | g.215376547A>C | CA431154970 | FN1 | c.5838T>G (p.Thr1946=) c.5565T>G (p.Thr1855=) c.5295T>G (p.Thr1765=) c.5568T>G (p.Thr1856=) c.1716T>G (p.Thr572=) n.923T>G n.6975T>G n.132+3010A>C | |
2 | g.215376547A>G | CA431154969 | FN1 | c.5838T>C (p.Thr1946=) c.5565T>C (p.Thr1855=) c.5295T>C (p.Thr1765=) c.5568T>C (p.Thr1856=) c.1716T>C (p.Thr572=) n.923T>C n.6975T>C n.132+3010A>G | gnomAD v4 |
2 | g.215376547A>T | CA431154968 | FN1 | c.5838T>A (p.Thr1946=) c.5565T>A (p.Thr1855=) c.5295T>A (p.Thr1765=) c.5568T>A (p.Thr1856=) c.1716T>A (p.Thr572=) n.923T>A n.6975T>A n.132+3010A>T | |
2 | g.215376548G>A | CA2094024 | FN1 | c.5837C>T (p.Thr1946Ile) c.5564C>T (p.Thr1855Ile) c.5294C>T (p.Thr1765Ile) c.5567C>T (p.Thr1856Ile) c.1715C>T (p.Thr572Ile) n.922C>T n.6974C>T n.132+3011G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376548G>C | CA350471290 | FN1 | c.5837C>G (p.Thr1946Ser) c.5564C>G (p.Thr1855Ser) c.5294C>G (p.Thr1765Ser) c.5567C>G (p.Thr1856Ser) c.1715C>G (p.Thr572Ser) n.922C>G n.6974C>G n.132+3011G>C | |
2 | g.215376548G= | CA1327346860 | FN1 | c.5837C= (p.Thr1946=) c.5564C= (p.Thr1855=) c.5294C= (p.Thr1765=) c.5567C= (p.Thr1856=) c.1715C= (p.Thr572=) n.922C= n.6974C= n.132+3011G= | |
2 | g.215376548G>T | CA350471292 | FN1 | c.5837C>A (p.Thr1946Asn) c.5564C>A (p.Thr1855Asn) c.5294C>A (p.Thr1765Asn) c.5567C>A (p.Thr1856Asn) c.1715C>A (p.Thr572Asn) n.922C>A n.6974C>A n.132+3011G>T | |
2 | g.215376549T>A | CA350471293 | FN1 | c.5836A>T (p.Thr1946Ser) c.5563A>T (p.Thr1855Ser) c.5293A>T (p.Thr1765Ser) c.5566A>T (p.Thr1856Ser) c.1714A>T (p.Thr572Ser) n.921A>T n.6973A>T n.132+3012T>A | |
2 | g.215376549T>C | CA350471295 | FN1 | c.5836A>G (p.Thr1946Ala) c.5563A>G (p.Thr1855Ala) c.5293A>G (p.Thr1765Ala) c.5566A>G (p.Thr1856Ala) c.1714A>G (p.Thr572Ala) n.921A>G n.6973A>G n.132+3012T>C | |
2 | g.215376549T>G | CA350471296 | FN1 | c.5836A>C (p.Thr1946Pro) c.5563A>C (p.Thr1855Pro) c.5293A>C (p.Thr1765Pro) c.5566A>C (p.Thr1856Pro) c.1714A>C (p.Thr572Pro) n.921A>C n.6973A>C n.132+3012T>G | |
2 | g.215376550C>A | CA350471300 | FN1 | c.5835G>T (p.Gln1945His) c.5562G>T (p.Gln1854His) c.5292G>T (p.Gln1764His) c.5565G>T (p.Gln1855His) c.1713G>T (p.Gln571His) n.920G>T n.6972G>T n.132+3013C>A | |
2 | g.215376550C>G | CA350471298 | FN1 | c.5835G>C (p.Gln1945His) c.5562G>C (p.Gln1854His) c.5292G>C (p.Gln1764His) c.5565G>C (p.Gln1855His) c.1713G>C (p.Gln571His) n.920G>C n.6972G>C n.132+3013C>G | |
2 | g.215376550C>T | CA431154971 | FN1 | c.5835G>A (p.Gln1945=) c.5562G>A (p.Gln1854=) c.5292G>A (p.Gln1764=) c.5565G>A (p.Gln1855=) c.1713G>A (p.Gln571=) n.920G>A n.6972G>A n.132+3013C>T | |
2 | g.215376551T>A | CA350471302 | FN1 | c.5834A>T (p.Gln1945Leu) c.5561A>T (p.Gln1854Leu) c.5291A>T (p.Gln1764Leu) c.5564A>T (p.Gln1855Leu) c.1712A>T (p.Gln571Leu) n.919A>T n.6971A>T n.132+3014T>A | |
2 | g.215376551T>C | CA350471304 | FN1 | c.5834A>G (p.Gln1945Arg) c.5561A>G (p.Gln1854Arg) c.5291A>G (p.Gln1764Arg) c.5564A>G (p.Gln1855Arg) c.1712A>G (p.Gln571Arg) n.919A>G n.6971A>G n.132+3014T>C | gnomAD v4 |
2 | g.215376551T>G | CA350471306 | FN1 | c.5834A>C (p.Gln1945Pro) c.5561A>C (p.Gln1854Pro) c.5291A>C (p.Gln1764Pro) c.5564A>C (p.Gln1855Pro) c.1712A>C (p.Gln571Pro) n.919A>C n.6971A>C n.132+3014T>G | |
2 | g.215376552G>A | CA350471308 | FN1 | c.5833C>T (p.Gln1945Ter) c.5560C>T (p.Gln1854Ter) c.5290C>T (p.Gln1764Ter) c.5563C>T (p.Gln1855Ter) c.1711C>T (p.Gln571Ter) n.918C>T n.6970C>T n.132+3015G>A | |
2 | g.215376552G>C | CA350471310 | FN1 | c.5833C>G (p.Gln1945Glu) c.5560C>G (p.Gln1854Glu) c.5290C>G (p.Gln1764Glu) c.5563C>G (p.Gln1855Glu) c.1711C>G (p.Gln571Glu) n.918C>G n.6970C>G n.132+3015G>C | |
2 | g.215376552G>T | CA350471311 | FN1 | c.5833C>A (p.Gln1945Lys) c.5560C>A (p.Gln1854Lys) c.5290C>A (p.Gln1764Lys) c.5563C>A (p.Gln1855Lys) c.1711C>A (p.Gln571Lys) n.918C>A n.6970C>A n.132+3015G>T | |
2 | g.215376553G>A | CA431154972 | FN1 | c.5832C>T (p.Gly1944=) c.5559C>T (p.Gly1853=) c.5289C>T (p.Gly1763=) c.5562C>T (p.Gly1854=) c.1710C>T (p.Gly570=) n.917C>T n.6969C>T n.132+3016G>A | gnomAD v4 |
2 | g.215376553G>C | CA431154974 | FN1 | c.5832C>G (p.Gly1944=) c.5559C>G (p.Gly1853=) c.5289C>G (p.Gly1763=) c.5562C>G (p.Gly1854=) c.1710C>G (p.Gly570=) n.917C>G n.6969C>G n.132+3016G>C | |
2 | g.215376553G>T | CA431154973 | FN1 | c.5832C>A (p.Gly1944=) c.5559C>A (p.Gly1853=) c.5289C>A (p.Gly1763=) c.5562C>A (p.Gly1854=) c.1710C>A (p.Gly570=) n.917C>A n.6969C>A n.132+3016G>T | |
2 | g.215376554C>A | CA350471313 | FN1 | c.5831G>T (p.Gly1944Val) c.5558G>T (p.Gly1853Val) c.5288G>T (p.Gly1763Val) c.5561G>T (p.Gly1854Val) c.1709G>T (p.Gly570Val) n.916G>T n.6968G>T n.132+3017C>A | |
2 | g.215376554C>G | CA350471316 | FN1 | c.5831G>C (p.Gly1944Ala) c.5558G>C (p.Gly1853Ala) c.5288G>C (p.Gly1763Ala) c.5561G>C (p.Gly1854Ala) c.1709G>C (p.Gly570Ala) n.916G>C n.6968G>C n.132+3017C>G | |
2 | g.215376554C>T | CA350471314 | FN1 | c.5831G>A (p.Gly1944Asp) c.5558G>A (p.Gly1853Asp) c.5288G>A (p.Gly1763Asp) c.5561G>A (p.Gly1854Asp) c.1709G>A (p.Gly570Asp) n.916G>A n.6968G>A n.132+3017C>T | |
2 | g.215376555C>A | CA350471317 | FN1 | c.5830G>T (p.Gly1944Cys) c.5557G>T (p.Gly1853Cys) c.5287G>T (p.Gly1763Cys) c.5560G>T (p.Gly1854Cys) c.1708G>T (p.Gly570Cys) n.915G>T n.6967G>T n.132+3018C>A | |
2 | g.215376555C>G | CA350471318 | FN1 | c.5830G>C (p.Gly1944Arg) c.5557G>C (p.Gly1853Arg) c.5287G>C (p.Gly1763Arg) c.5560G>C (p.Gly1854Arg) c.1708G>C (p.Gly570Arg) n.915G>C n.6967G>C n.132+3018C>G | |
2 | g.215376555C>T | CA350471320 | FN1 | c.5830G>A (p.Gly1944Ser) c.5557G>A (p.Gly1853Ser) c.5287G>A (p.Gly1763Ser) c.5560G>A (p.Gly1854Ser) c.1708G>A (p.Gly570Ser) n.915G>A n.6967G>A n.132+3018C>T | |
2 | g.215376556A= | CA1327346861 | FN1 | c.5829T= (p.Asn1943=) c.5556T= (p.Asn1852=) c.5286T= (p.Asn1762=) c.5559T= (p.Asn1853=) c.1707T= (p.Asn569=) n.914T= n.6966T= n.132+3019A= | |
2 | g.215376556A>C | CA350471321 | FN1 | c.5829T>G (p.Asn1943Lys) c.5556T>G (p.Asn1852Lys) c.5286T>G (p.Asn1762Lys) c.5559T>G (p.Asn1853Lys) c.1707T>G (p.Asn569Lys) n.914T>G n.6966T>G n.132+3019A>C | |
2 | g.215376556A>G | CA431154975 | FN1 | c.5829T>C (p.Asn1943=) c.5556T>C (p.Asn1852=) c.5286T>C (p.Asn1762=) c.5559T>C (p.Asn1853=) c.1707T>C (p.Asn569=) n.914T>C n.6966T>C n.132+3019A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215376556A>T | CA350471323 | FN1 | c.5829T>A (p.Asn1943Lys) c.5556T>A (p.Asn1852Lys) c.5286T>A (p.Asn1762Lys) c.5559T>A (p.Asn1853Lys) c.1707T>A (p.Asn569Lys) n.914T>A n.6966T>A n.132+3019A>T | gnomAD v4 |
2 | g.215376557T>A | CA350471330 | FN1 | c.5828A>T (p.Asn1943Ile) c.5555A>T (p.Asn1852Ile) c.5285A>T (p.Asn1762Ile) c.5558A>T (p.Asn1853Ile) c.1706A>T (p.Asn569Ile) n.913A>T n.6965A>T n.132+3020T>A | |
2 | g.215376557T>C | CA2094025 | FN1 | c.5828A>G (p.Asn1943Ser) c.5555A>G (p.Asn1852Ser) c.5285A>G (p.Asn1762Ser) c.5558A>G (p.Asn1853Ser) c.1706A>G (p.Asn569Ser) n.913A>G n.6965A>G n.132+3020T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376557T>G | CA350471327 | FN1 | c.5828A>C (p.Asn1943Thr) c.5555A>C (p.Asn1852Thr) c.5285A>C (p.Asn1762Thr) c.5558A>C (p.Asn1853Thr) c.1706A>C (p.Asn569Thr) n.913A>C n.6965A>C n.132+3020T>G | |
2 | g.215376557T= | CA1327346862 | FN1 | c.5828A= (p.Asn1943=) c.5555A= (p.Asn1852=) c.5285A= (p.Asn1762=) c.5558A= (p.Asn1853=) c.1706A= (p.Asn569=) n.913A= n.6965A= n.132+3020T= | |
2 | g.215376558T>A | CA350471332 | FN1 | c.5827A>T (p.Asn1943Tyr) c.5554A>T (p.Asn1852Tyr) c.5284A>T (p.Asn1762Tyr) c.5557A>T (p.Asn1853Tyr) c.1705A>T (p.Asn569Tyr) n.912A>T n.6964A>T n.132+3021T>A | |
2 | g.215376558T>C | CA350471334 | FN1 | c.5827A>G (p.Asn1943Asp) c.5554A>G (p.Asn1852Asp) c.5284A>G (p.Asn1762Asp) c.5557A>G (p.Asn1853Asp) c.1705A>G (p.Asn569Asp) n.912A>G n.6964A>G n.132+3021T>C | |
2 | g.215376558T>G | CA350471335 | FN1 | c.5827A>C (p.Asn1943His) c.5554A>C (p.Asn1852His) c.5284A>C (p.Asn1762His) c.5557A>C (p.Asn1853His) c.1705A>C (p.Asn569His) n.912A>C n.6964A>C n.132+3021T>G | |
2 | g.215376559G>A | CA431154976 | FN1 | c.5826C>T (p.Ala1942=) c.5553C>T (p.Ala1851=) c.5283C>T (p.Ala1761=) c.5556C>T (p.Ala1852=) c.1704C>T (p.Ala568=) n.911C>T n.6963C>T n.132+3022G>A | |
2 | g.215376559G>C | CA431154977 | FN1 | c.5826C>G (p.Ala1942=) c.5553C>G (p.Ala1851=) c.5283C>G (p.Ala1761=) c.5556C>G (p.Ala1852=) c.1704C>G (p.Ala568=) n.911C>G n.6963C>G n.132+3022G>C | |
2 | g.215376559G>T | CA431154978 | FN1 | c.5826C>A (p.Ala1942=) c.5553C>A (p.Ala1851=) c.5283C>A (p.Ala1761=) c.5556C>A (p.Ala1852=) c.1704C>A (p.Ala568=) n.911C>A n.6963C>A n.132+3022G>T | |
2 | g.215376560G>A | CA350471337 | FN1 | c.5825C>T (p.Ala1942Val) c.5552C>T (p.Ala1851Val) c.5282C>T (p.Ala1761Val) c.5555C>T (p.Ala1852Val) c.1703C>T (p.Ala568Val) n.910C>T n.6962C>T n.132+3023G>A | gnomAD v4 |
2 | g.215376560G>C | CA350471339 | FN1 | c.5825C>G (p.Ala1942Gly) c.5552C>G (p.Ala1851Gly) c.5282C>G (p.Ala1761Gly) c.5555C>G (p.Ala1852Gly) c.1703C>G (p.Ala568Gly) n.910C>G n.6962C>G n.132+3023G>C | |
2 | g.215376560G>T | CA350471344 | FN1 | c.5825C>A (p.Ala1942Asp) c.5552C>A (p.Ala1851Asp) c.5282C>A (p.Ala1761Asp) c.5555C>A (p.Ala1852Asp) c.1703C>A (p.Ala568Asp) n.910C>A n.6962C>A n.132+3023G>T | |
2 | g.215376561C>A | CA350471346 | FN1 | c.5824G>T (p.Ala1942Ser) c.5551G>T (p.Ala1851Ser) c.5281G>T (p.Ala1761Ser) c.5554G>T (p.Ala1852Ser) c.1702G>T (p.Ala568Ser) n.909G>T n.6961G>T n.132+3024C>A | |
2 | g.215376561C>G | CA350471350 | FN1 | c.5824G>C (p.Ala1942Pro) c.5551G>C (p.Ala1851Pro) c.5281G>C (p.Ala1761Pro) c.5554G>C (p.Ala1852Pro) c.1702G>C (p.Ala568Pro) n.909G>C n.6961G>C n.132+3024C>G | |
2 | g.215376561C>T | CA350471348 | FN1 | c.5824G>A (p.Ala1942Thr) c.5551G>A (p.Ala1851Thr) c.5281G>A (p.Ala1761Thr) c.5554G>A (p.Ala1852Thr) c.1702G>A (p.Ala568Thr) n.909G>A n.6961G>A n.132+3024C>T | |
2 | g.215376561_215376562insG | CA645527918 | FN1 | c.5823_5824insC (p.Ala1942ArgfsTer28) c.5550_5551insC (p.Ala1851ArgfsTer28) c.5280_5281insC (p.Ala1761ArgfsTer28) c.5553_5554insC (p.Ala1852ArgfsTer28) c.1701_1702insC (p.Ala568ArgfsTer28) n.908_909insC n.6960_6961insC n.132+3024_132+3025insG | COSMIC COSMIC |
2 | g.215376562T>A | CA431154980 | FN1 | c.5823A>T (p.Pro1941=) c.5550A>T (p.Pro1850=) c.5280A>T (p.Pro1760=) c.5553A>T (p.Pro1851=) c.1701A>T (p.Pro567=) n.908A>T n.6960A>T n.132+3025T>A | |
2 | g.215376562T>C | CA431154979 | FN1 | c.5823A>G (p.Pro1941=) c.5550A>G (p.Pro1850=) c.5280A>G (p.Pro1760=) c.5553A>G (p.Pro1851=) c.1701A>G (p.Pro567=) n.908A>G n.6960A>G n.132+3025T>C | |
2 | g.215376562T>G | CA2094026 | FN1 | c.5823A>C (p.Pro1941=) c.5550A>C (p.Pro1850=) c.5280A>C (p.Pro1760=) c.5553A>C (p.Pro1851=) c.1701A>C (p.Pro567=) n.908A>C n.6960A>C n.132+3025T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376562T= | CA1327346863 | FN1 | c.5823A= (p.Pro1941=) c.5550A= (p.Pro1850=) c.5280A= (p.Pro1760=) c.5553A= (p.Pro1851=) c.1701A= (p.Pro567=) n.908A= n.6960A= n.132+3025T= | |
2 | g.215376563G>A | CA350471353 | FN1 | c.5822C>T (p.Pro1941Leu) c.5549C>T (p.Pro1850Leu) c.5279C>T (p.Pro1760Leu) c.5552C>T (p.Pro1851Leu) c.1700C>T (p.Pro567Leu) n.907C>T n.6959C>T n.132+3026G>A | |
2 | g.215376563G>C | CA350471355 | FN1 | c.5822C>G (p.Pro1941Arg) c.5549C>G (p.Pro1850Arg) c.5279C>G (p.Pro1760Arg) c.5552C>G (p.Pro1851Arg) c.1700C>G (p.Pro567Arg) n.907C>G n.6959C>G n.132+3026G>C | |
2 | g.215376563G= | CA1327346864 | FN1 | c.5822C= (p.Pro1941=) c.5549C= (p.Pro1850=) c.5279C= (p.Pro1760=) c.5552C= (p.Pro1851=) c.1700C= (p.Pro567=) n.907C= n.6959C= n.132+3026G= | |
2 | g.215376563G>T | CA350471357 | FN1 | c.5822C>A (p.Pro1941Gln) c.5549C>A (p.Pro1850Gln) c.5279C>A (p.Pro1760Gln) c.5552C>A (p.Pro1851Gln) c.1700C>A (p.Pro567Gln) n.907C>A n.6959C>A n.132+3026G>T | |
2 | g.215376564G>A | CA350471360 | FN1 | c.5821C>T (p.Pro1941Ser) c.5548C>T (p.Pro1850Ser) c.5278C>T (p.Pro1760Ser) c.5551C>T (p.Pro1851Ser) c.1699C>T (p.Pro567Ser) n.906C>T n.6958C>T n.132+3027G>A | ClinVar |
2 | g.215376564G>C | CA350471361 | FN1 | c.5821C>G (p.Pro1941Ala) c.5548C>G (p.Pro1850Ala) c.5278C>G (p.Pro1760Ala) c.5551C>G (p.Pro1851Ala) c.1699C>G (p.Pro567Ala) n.906C>G n.6958C>G n.132+3027G>C | |
2 | g.215376564G>T | CA350471363 | FN1 | c.5821C>A (p.Pro1941Thr) c.5548C>A (p.Pro1850Thr) c.5278C>A (p.Pro1760Thr) c.5551C>A (p.Pro1851Thr) c.1699C>A (p.Pro567Thr) n.906C>A n.6958C>A n.132+3027G>T | |
2 | g.215376565_215376579dup | CA1327346865 | FN1 | c.5807_5821dup (p.Val1940_Pro1941insGlnValAspAlaVal) c.5534_5548dup (p.Val1849_Pro1850insGlnValAspAlaVal) c.5264_5278dup (p.Val1759_Pro1760insGlnValAspAlaVal) c.5537_5551dup (p.Val1850_Pro1851insGlnValAspAlaVal) c.1685_1699dup (p.Val566_Pro567insGlnValAspAlaVal) n.892_906dup n.6944_6958dup n.132+3028_132+3042dup | dbSNP |
2 | g.215376565A= | CA1327346866 | FN1 | c.5820T= (p.Val1940=) c.5547T= (p.Val1849=) c.5277T= (p.Val1759=) c.5550T= (p.Val1850=) c.1698T= (p.Val566=) n.905T= n.6957T= n.132+3028A= | |
2 | g.215376565A>C | CA431154981 | FN1 | c.5820T>G (p.Val1940=) c.5547T>G (p.Val1849=) c.5277T>G (p.Val1759=) c.5550T>G (p.Val1850=) c.1698T>G (p.Val566=) n.905T>G n.6957T>G n.132+3028A>C | |
2 | g.215376565A>G | CA2094027 | FN1 | c.5820T>C (p.Val1940=) c.5547T>C (p.Val1849=) c.5277T>C (p.Val1759=) c.5550T>C (p.Val1850=) c.1698T>C (p.Val566=) n.905T>C n.6957T>C n.132+3028A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215376565A>T | CA431154982 | FN1 | c.5820T>A (p.Val1940=) c.5547T>A (p.Val1849=) c.5277T>A (p.Val1759=) c.5550T>A (p.Val1850=) c.1698T>A (p.Val566=) n.905T>A n.6957T>A n.132+3028A>T | |
2 | g.215376566A>C | CA350471367 | FN1 | c.5819T>G (p.Val1940Gly) c.5546T>G (p.Val1849Gly) c.5276T>G (p.Val1759Gly) c.5549T>G (p.Val1850Gly) c.1697T>G (p.Val566Gly) n.904T>G n.6956T>G n.132+3029A>C | |
2 | g.215376566A>G | CA350471368 | FN1 | c.5819T>C (p.Val1940Ala) c.5546T>C (p.Val1849Ala) c.5276T>C (p.Val1759Ala) c.5549T>C (p.Val1850Ala) c.1697T>C (p.Val566Ala) n.904T>C n.6956T>C n.132+3029A>G | |
2 | g.215376566A>T | CA350471370 | FN1 | c.5819T>A (p.Val1940Asp) c.5546T>A (p.Val1849Asp) c.5276T>A (p.Val1759Asp) c.5549T>A (p.Val1850Asp) c.1697T>A (p.Val566Asp) n.904T>A n.6956T>A n.132+3029A>T | |
2 | g.215376567C>A | CA2094028 | FN1 | c.5818G>T (p.Val1940Phe) c.5545G>T (p.Val1849Phe) c.5275G>T (p.Val1759Phe) c.5548G>T (p.Val1850Phe) c.1696G>T (p.Val566Phe) n.903G>T n.6955G>T n.132+3030C>A | dbSNP ExAC gnomAD v2 |
2 | g.215376567C= | CA1327346867 | FN1 | c.5818G= (p.Val1940=) c.5545G= (p.Val1849=) c.5275G= (p.Val1759=) c.5548G= (p.Val1850=) c.1696G= (p.Val566=) n.903G= n.6955G= n.132+3030C= | |
2 | g.215376567C>G | CA350471372 | FN1 | c.5818G>C (p.Val1940Leu) c.5545G>C (p.Val1849Leu) c.5275G>C (p.Val1759Leu) c.5548G>C (p.Val1850Leu) c.1696G>C (p.Val566Leu) n.903G>C n.6955G>C n.132+3030C>G | gnomAD v4 |
2 | g.215376567C>T | CA2094029 | FN1 | c.5818G>A (p.Val1940Ile) c.5545G>A (p.Val1849Ile) c.5275G>A (p.Val1759Ile) c.5548G>A (p.Val1850Ile) c.1696G>A (p.Val566Ile) n.903G>A n.6955G>A n.132+3030C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376568G>A | CA64850040 | FN1 | c.5817C>T (p.Ala1939=) c.5544C>T (p.Ala1848=) c.5274C>T (p.Ala1758=) c.5547C>T (p.Ala1849=) c.1695C>T (p.Ala565=) n.902C>T n.6954C>T n.132+3031G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376568G>C | CA431154983 | FN1 | c.5817C>G (p.Ala1939=) c.5544C>G (p.Ala1848=) c.5274C>G (p.Ala1758=) c.5547C>G (p.Ala1849=) c.1695C>G (p.Ala565=) n.902C>G n.6954C>G n.132+3031G>C | |
2 | g.215376568G= | CA1327346868 | FN1 | c.5817C= (p.Ala1939=) c.5544C= (p.Ala1848=) c.5274C= (p.Ala1758=) c.5547C= (p.Ala1849=) c.1695C= (p.Ala565=) n.902C= n.6954C= n.132+3031G= | |
2 | g.215376568G>T | CA431154984 | FN1 | c.5817C>A (p.Ala1939=) c.5544C>A (p.Ala1848=) c.5274C>A (p.Ala1758=) c.5547C>A (p.Ala1849=) c.1695C>A (p.Ala565=) n.902C>A n.6954C>A n.132+3031G>T | |
2 | g.215376569G>A | CA350471380 | FN1 | c.5816C>T (p.Ala1939Val) c.5543C>T (p.Ala1848Val) c.5273C>T (p.Ala1758Val) c.5546C>T (p.Ala1849Val) c.1694C>T (p.Ala565Val) n.901C>T n.6953C>T n.132+3032G>A | |
2 | g.215376569G>C | CA350471382 | FN1 | c.5816C>G (p.Ala1939Gly) c.5543C>G (p.Ala1848Gly) c.5273C>G (p.Ala1758Gly) c.5546C>G (p.Ala1849Gly) c.1694C>G (p.Ala565Gly) n.901C>G n.6953C>G n.132+3032G>C | |
2 | g.215376569G>T | CA350471384 | FN1 | c.5816C>A (p.Ala1939Asp) c.5543C>A (p.Ala1848Asp) c.5273C>A (p.Ala1758Asp) c.5546C>A (p.Ala1849Asp) c.1694C>A (p.Ala565Asp) n.901C>A n.6953C>A n.132+3032G>T | |
2 | g.215376570C>A | CA350471386 | FN1 | c.5815G>T (p.Ala1939Ser) c.5542G>T (p.Ala1848Ser) c.5272G>T (p.Ala1758Ser) c.5545G>T (p.Ala1849Ser) c.1693G>T (p.Ala565Ser) n.900G>T n.6952G>T n.132+3033C>A | |
2 | g.215376570C= | CA1327346869 | FN1 | c.5815G= (p.Ala1939=) c.5542G= (p.Ala1848=) c.5272G= (p.Ala1758=) c.5545G= (p.Ala1849=) c.1693G= (p.Ala565=) n.900G= n.6952G= n.132+3033C= | |
2 | g.215376570C>G | CA350471387 | FN1 | c.5815G>C (p.Ala1939Pro) c.5542G>C (p.Ala1848Pro) c.5272G>C (p.Ala1758Pro) c.5545G>C (p.Ala1849Pro) c.1693G>C (p.Ala565Pro) n.900G>C n.6952G>C n.132+3033C>G | |
2 | g.215376570C>T | CA2094030 | FN1 | c.5815G>A (p.Ala1939Thr) c.5542G>A (p.Ala1848Thr) c.5272G>A (p.Ala1758Thr) c.5545G>A (p.Ala1849Thr) c.1693G>A (p.Ala565Thr) n.900G>A n.6952G>A n.132+3033C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215376571A= | CA1327346870 | FN1 | c.5814T= (p.Asp1938=) c.5541T= (p.Asp1847=) c.5271T= (p.Asp1757=) c.5544T= (p.Asp1848=) c.1692T= (p.Asp564=) n.899T= n.6951T= n.132+3034A= | |
2 | g.215376571A>C | CA350471392 | FN1 | c.5814T>G (p.Asp1938Glu) c.5541T>G (p.Asp1847Glu) c.5271T>G (p.Asp1757Glu) c.5544T>G (p.Asp1848Glu) c.1692T>G (p.Asp564Glu) n.899T>G n.6951T>G n.132+3034A>C | |
2 | g.215376571A>G | CA64850043 | FN1 | c.5814T>C (p.Asp1938=) c.5541T>C (p.Asp1847=) c.5271T>C (p.Asp1757=) c.5544T>C (p.Asp1848=) c.1692T>C (p.Asp564=) n.899T>C n.6951T>C n.132+3034A>G | dbSNP gnomAD v4 |
2 | g.215376571A>T | CA350471390 | FN1 | c.5814T>A (p.Asp1938Glu) c.5541T>A (p.Asp1847Glu) c.5271T>A (p.Asp1757Glu) c.5544T>A (p.Asp1848Glu) c.1692T>A (p.Asp564Glu) n.899T>A n.6951T>A n.132+3034A>T | |
2 | g.215376572T>A | CA350471393 | FN1 | c.5813A>T (p.Asp1938Val) c.5540A>T (p.Asp1847Val) c.5270A>T (p.Asp1757Val) c.5543A>T (p.Asp1848Val) c.1691A>T (p.Asp564Val) n.898A>T n.6950A>T n.132+3035T>A | |
2 | g.215376572T>C | CA350471397 | FN1 | c.5813A>G (p.Asp1938Gly) c.5540A>G (p.Asp1847Gly) c.5270A>G (p.Asp1757Gly) c.5543A>G (p.Asp1848Gly) c.1691A>G (p.Asp564Gly) n.898A>G n.6950A>G n.132+3035T>C | |
2 | g.215376572T>G | CA350471399 | FN1 | c.5813A>C (p.Asp1938Ala) c.5540A>C (p.Asp1847Ala) c.5270A>C (p.Asp1757Ala) c.5543A>C (p.Asp1848Ala) c.1691A>C (p.Asp564Ala) n.898A>C n.6950A>C n.132+3035T>G | |
2 | g.215376573C>A | CA350471402 | FN1 | c.5812G>T (p.Asp1938Tyr) c.5539G>T (p.Asp1847Tyr) c.5269G>T (p.Asp1757Tyr) c.5542G>T (p.Asp1848Tyr) c.1690G>T (p.Asp564Tyr) n.897G>T n.6949G>T n.132+3036C>A | |
2 | g.215376573C= | CA1327346871 | FN1 | c.5812G= (p.Asp1938=) c.5539G= (p.Asp1847=) c.5269G= (p.Asp1757=) c.5542G= (p.Asp1848=) c.1690G= (p.Asp564=) n.897G= n.6949G= n.132+3036C= | |
2 | g.215376573C>G | CA350471403 | FN1 | c.5812G>C (p.Asp1938His) c.5539G>C (p.Asp1847His) c.5269G>C (p.Asp1757His) c.5542G>C (p.Asp1848His) c.1690G>C (p.Asp564His) n.897G>C n.6949G>C n.132+3036C>G | |
2 | g.215376573C>T | CA350471406 | FN1 | c.5812G>A (p.Asp1938Asn) c.5539G>A (p.Asp1847Asn) c.5269G>A (p.Asp1757Asn) c.5542G>A (p.Asp1848Asn) c.1690G>A (p.Asp564Asn) n.897G>A n.6949G>A n.132+3036C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376574A>C | CA431154985 | FN1 | c.5811T>G (p.Val1937=) c.5538T>G (p.Val1846=) c.5268T>G (p.Val1756=) c.5541T>G (p.Val1847=) c.1689T>G (p.Val563=) n.896T>G n.6948T>G n.132+3037A>C | gnomAD v4 |
2 | g.215376574A>G | CA431154986 | FN1 | c.5811T>C (p.Val1937=) c.5538T>C (p.Val1846=) c.5268T>C (p.Val1756=) c.5541T>C (p.Val1847=) c.1689T>C (p.Val563=) n.896T>C n.6948T>C n.132+3037A>G | |
2 | g.215376574A>T | CA431154987 | FN1 | c.5811T>A (p.Val1937=) c.5538T>A (p.Val1846=) c.5268T>A (p.Val1756=) c.5541T>A (p.Val1847=) c.1689T>A (p.Val563=) n.896T>A n.6948T>A n.132+3037A>T | |
2 | g.215376575A= | CA1327346872 | FN1 | c.5810T= (p.Val1937=) c.5537T= (p.Val1846=) c.5267T= (p.Val1756=) c.5540T= (p.Val1847=) c.1688T= (p.Val563=) n.895T= n.6947T= n.132+3038A= | |
2 | g.215376575A>C | CA350471414 | FN1 | c.5810T>G (p.Val1937Gly) c.5537T>G (p.Val1846Gly) c.5267T>G (p.Val1756Gly) c.5540T>G (p.Val1847Gly) c.1688T>G (p.Val563Gly) n.895T>G n.6947T>G n.132+3038A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376575A>G | CA350471411 | FN1 | c.5810T>C (p.Val1937Ala) c.5537T>C (p.Val1846Ala) c.5267T>C (p.Val1756Ala) c.5540T>C (p.Val1847Ala) c.1688T>C (p.Val563Ala) n.895T>C n.6947T>C n.132+3038A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376575A>T | CA350471413 | FN1 | c.5810T>A (p.Val1937Asp) c.5537T>A (p.Val1846Asp) c.5267T>A (p.Val1756Asp) c.5540T>A (p.Val1847Asp) c.1688T>A (p.Val563Asp) n.895T>A n.6947T>A n.132+3038A>T | |
2 | g.215376576C>A | CA350471416 | FN1 | c.5809G>T (p.Val1937Phe) c.5536G>T (p.Val1846Phe) c.5266G>T (p.Val1756Phe) c.5539G>T (p.Val1847Phe) c.1687G>T (p.Val563Phe) n.894G>T n.6946G>T n.132+3039C>A | |
2 | g.215376576C>G | CA350471418 | FN1 | c.5809G>C (p.Val1937Leu) c.5536G>C (p.Val1846Leu) c.5266G>C (p.Val1756Leu) c.5539G>C (p.Val1847Leu) c.1687G>C (p.Val563Leu) n.894G>C n.6946G>C n.132+3039C>G | |
2 | g.215376576C>T | CA350471422 | FN1 | c.5809G>A (p.Val1937Ile) c.5536G>A (p.Val1846Ile) c.5266G>A (p.Val1756Ile) c.5539G>A (p.Val1847Ile) c.1687G>A (p.Val563Ile) n.894G>A n.6946G>A n.132+3039C>T | |
2 | g.215376581_215376605del | CA2701531704 | FN1 | c.5785_5809del (p.Thr1929LeufsTer?) c.5512_5536del (p.Thr1838LeufsTer?) c.5242_5266del (p.Thr1748LeufsTer?) c.5515_5539del (p.Thr1839LeufsTer?) c.1663_1687del (p.Thr555LeufsTer?) n.870_894del n.6922_6946del n.132+3044_132+3068del | dbSNP |
2 | g.215376577T>A | CA350471424 | FN1 | c.5808A>T (p.Gln1936His) c.5535A>T (p.Gln1845His) c.5265A>T (p.Gln1755His) c.5538A>T (p.Gln1846His) c.1686A>T (p.Gln562His) n.893A>T n.6945A>T n.132+3040T>A | |
2 | g.215376577T>C | CA431154988 | FN1 | c.5808A>G (p.Gln1936=) c.5535A>G (p.Gln1845=) c.5265A>G (p.Gln1755=) c.5538A>G (p.Gln1846=) c.1686A>G (p.Gln562=) n.893A>G n.6945A>G n.132+3040T>C | |
2 | g.215376577T>G | CA350471425 | FN1 | c.5808A>C (p.Gln1936His) c.5535A>C (p.Gln1845His) c.5265A>C (p.Gln1755His) c.5538A>C (p.Gln1846His) c.1686A>C (p.Gln562His) n.893A>C n.6945A>C n.132+3040T>G | |
2 | g.215376578T>A | CA350471427 | FN1 | c.5807A>T (p.Gln1936Leu) c.5534A>T (p.Gln1845Leu) c.5264A>T (p.Gln1755Leu) c.5537A>T (p.Gln1846Leu) c.1685A>T (p.Gln562Leu) n.892A>T n.6944A>T n.132+3041T>A | |
2 | g.215376578T>C | CA350471429 | FN1 | c.5807A>G (p.Gln1936Arg) c.5534A>G (p.Gln1845Arg) c.5264A>G (p.Gln1755Arg) c.5537A>G (p.Gln1846Arg) c.1685A>G (p.Gln562Arg) n.892A>G n.6944A>G n.132+3041T>C | |
2 | g.215376578T>G | CA350471430 | FN1 | c.5807A>C (p.Gln1936Pro) c.5534A>C (p.Gln1845Pro) c.5264A>C (p.Gln1755Pro) c.5537A>C (p.Gln1846Pro) c.1685A>C (p.Gln562Pro) n.892A>C n.6944A>C n.132+3041T>G | |
2 | g.215376579G>A | CA350471432 | FN1 | c.5806C>T (p.Gln1936Ter) c.5533C>T (p.Gln1845Ter) c.5263C>T (p.Gln1755Ter) c.5536C>T (p.Gln1846Ter) c.1684C>T (p.Gln562Ter) n.891C>T n.6943C>T n.132+3042G>A | |
2 | g.215376579G>C | CA350471434 | FN1 | c.5806C>G (p.Gln1936Glu) c.5533C>G (p.Gln1845Glu) c.5263C>G (p.Gln1755Glu) c.5536C>G (p.Gln1846Glu) c.1684C>G (p.Gln562Glu) n.891C>G n.6943C>G n.132+3042G>C | |
2 | g.215376579G>T | CA350471436 | FN1 | c.5806C>A (p.Gln1936Lys) c.5533C>A (p.Gln1845Lys) c.5263C>A (p.Gln1755Lys) c.5536C>A (p.Gln1846Lys) c.1684C>A (p.Gln562Lys) n.891C>A n.6943C>A n.132+3042G>T | |
2 | g.215376580G>A | CA431154989 | FN1 | c.5805C>T (p.Phe1935=) c.5532C>T (p.Phe1844=) c.5262C>T (p.Phe1754=) c.5535C>T (p.Phe1845=) c.1683C>T (p.Phe561=) n.890C>T n.6942C>T n.132+3043G>A | |
2 | g.215376580G>C | CA350471437 | FN1 | c.5805C>G (p.Phe1935Leu) c.5532C>G (p.Phe1844Leu) c.5262C>G (p.Phe1754Leu) c.5535C>G (p.Phe1845Leu) c.1683C>G (p.Phe561Leu) n.890C>G n.6942C>G n.132+3043G>C | |
2 | g.215376580G>T | CA350471440 | FN1 | c.5805C>A (p.Phe1935Leu) c.5532C>A (p.Phe1844Leu) c.5262C>A (p.Phe1754Leu) c.5535C>A (p.Phe1845Leu) c.1683C>A (p.Phe561Leu) n.890C>A n.6942C>A n.132+3043G>T | |
2 | g.215376581A>C | CA350471442 | FN1 | c.5804T>G (p.Phe1935Cys) c.5531T>G (p.Phe1844Cys) c.5261T>G (p.Phe1754Cys) c.5534T>G (p.Phe1845Cys) c.1682T>G (p.Phe561Cys) n.889T>G n.6941T>G n.132+3044A>C | |
2 | g.215376581A>G | CA350471446 | FN1 | c.5804T>C (p.Phe1935Ser) c.5531T>C (p.Phe1844Ser) c.5261T>C (p.Phe1754Ser) c.5534T>C (p.Phe1845Ser) c.1682T>C (p.Phe561Ser) n.889T>C n.6941T>C n.132+3044A>G | |
2 | g.215376581A>T | CA350471443 | FN1 | c.5804T>A (p.Phe1935Tyr) c.5531T>A (p.Phe1844Tyr) c.5261T>A (p.Phe1754Tyr) c.5534T>A (p.Phe1845Tyr) c.1682T>A (p.Phe561Tyr) n.889T>A n.6941T>A n.132+3044A>T | |
2 | g.215376582A>C | CA350471449 | FN1 | c.5803T>G (p.Phe1935Val) c.5530T>G (p.Phe1844Val) c.5260T>G (p.Phe1754Val) c.5533T>G (p.Phe1845Val) c.1681T>G (p.Phe561Val) n.888T>G n.6940T>G n.132+3045A>C | |
2 | g.215376582A>G | CA350471451 | FN1 | c.5803T>C (p.Phe1935Leu) c.5530T>C (p.Phe1844Leu) c.5260T>C (p.Phe1754Leu) c.5533T>C (p.Phe1845Leu) c.1681T>C (p.Phe561Leu) n.888T>C n.6940T>C n.132+3045A>G | |
2 | g.215376582A>T | CA350471453 | FN1 | c.5803T>A (p.Phe1935Ile) c.5530T>A (p.Phe1844Ile) c.5260T>A (p.Phe1754Ile) c.5533T>A (p.Phe1845Ile) c.1681T>A (p.Phe561Ile) n.888T>A n.6940T>A n.132+3045A>T | |
2 | g.215376583G>A | CA431154990 | FN1 | c.5802C>T (p.Gly1934=) c.5529C>T (p.Gly1843=) c.5259C>T (p.Gly1753=) c.5532C>T (p.Gly1844=) c.1680C>T (p.Gly560=) n.887C>T n.6939C>T n.132+3046G>A | |
2 | g.215376583G>C | CA431154992 | FN1 | c.5802C>G (p.Gly1934=) c.5529C>G (p.Gly1843=) c.5259C>G (p.Gly1753=) c.5532C>G (p.Gly1844=) c.1680C>G (p.Gly560=) n.887C>G n.6939C>G n.132+3046G>C | |
2 | g.215376583G>T | CA431154991 | FN1 | c.5802C>A (p.Gly1934=) c.5529C>A (p.Gly1843=) c.5259C>A (p.Gly1753=) c.5532C>A (p.Gly1844=) c.1680C>A (p.Gly560=) n.887C>A n.6939C>A n.132+3046G>T | |
2 | g.215376584C>A | CA350471455 | FN1 | c.5801G>T (p.Gly1934Val) c.5528G>T (p.Gly1843Val) c.5258G>T (p.Gly1753Val) c.5531G>T (p.Gly1844Val) c.1679G>T (p.Gly560Val) n.886G>T n.6938G>T n.132+3047C>A | |
2 | g.215376584C= | CA1327346873 | FN1 | c.5801G= (p.Gly1934=) c.5528G= (p.Gly1843=) c.5258G= (p.Gly1753=) c.5531G= (p.Gly1844=) c.1679G= (p.Gly560=) n.886G= n.6938G= n.132+3047C= | |
2 | g.215376584C>G | CA350471457 | FN1 | c.5801G>C (p.Gly1934Ala) c.5528G>C (p.Gly1843Ala) c.5258G>C (p.Gly1753Ala) c.5531G>C (p.Gly1844Ala) c.1679G>C (p.Gly560Ala) n.886G>C n.6938G>C n.132+3047C>G | |
2 | g.215376584C>T | CA350471458 | FN1 | c.5801G>A (p.Gly1934Asp) c.5528G>A (p.Gly1843Asp) c.5258G>A (p.Gly1753Asp) c.5531G>A (p.Gly1844Asp) c.1679G>A (p.Gly560Asp) n.886G>A n.6938G>A n.132+3047C>T | dbSNP |
2 | g.215376585C>A | CA350471461 | FN1 | c.5800G>T (p.Gly1934Cys) c.5527G>T (p.Gly1843Cys) c.5257G>T (p.Gly1753Cys) c.5530G>T (p.Gly1844Cys) c.1678G>T (p.Gly560Cys) n.885G>T n.6937G>T n.132+3048C>A | |
2 | g.215376585C>G | CA350471463 | FN1 | c.5800G>C (p.Gly1934Arg) c.5527G>C (p.Gly1843Arg) c.5257G>C (p.Gly1753Arg) c.5530G>C (p.Gly1844Arg) c.1678G>C (p.Gly560Arg) n.885G>C n.6937G>C n.132+3048C>G | |
2 | g.215376585C>T | CA350471466 | FN1 | c.5800G>A (p.Gly1934Ser) c.5527G>A (p.Gly1843Ser) c.5257G>A (p.Gly1753Ser) c.5530G>A (p.Gly1844Ser) c.1678G>A (p.Gly560Ser) n.885G>A n.6937G>A n.132+3048C>T | |
2 | g.215376586A= | CA1327346874 | FN1 | c.5799T= (p.Thr1933=) c.5526T= (p.Thr1842=) c.5256T= (p.Thr1752=) c.5529T= (p.Thr1843=) c.1677T= (p.Thr559=) n.884T= n.6936T= n.132+3049A= | |
2 | g.215376586A>C | CA431154993 | FN1 | c.5799T>G (p.Thr1933=) c.5526T>G (p.Thr1842=) c.5256T>G (p.Thr1752=) c.5529T>G (p.Thr1843=) c.1677T>G (p.Thr559=) n.884T>G n.6936T>G n.132+3049A>C | dbSNP |
2 | g.215376586A>G | CA431154994 | FN1 | c.5799T>C (p.Thr1933=) c.5526T>C (p.Thr1842=) c.5256T>C (p.Thr1752=) c.5529T>C (p.Thr1843=) c.1677T>C (p.Thr559=) n.884T>C n.6936T>C n.132+3049A>G | gnomAD v4 |
2 | g.215376586A>T | CA431154995 | FN1 | c.5799T>A (p.Thr1933=) c.5526T>A (p.Thr1842=) c.5256T>A (p.Thr1752=) c.5529T>A (p.Thr1843=) c.1677T>A (p.Thr559=) n.884T>A n.6936T>A n.132+3049A>T | |
2 | g.215376587G>A | CA350471468 | FN1 | c.5798C>T (p.Thr1933Ile) c.5525C>T (p.Thr1842Ile) c.5255C>T (p.Thr1752Ile) c.5528C>T (p.Thr1843Ile) c.1676C>T (p.Thr559Ile) n.883C>T n.6935C>T n.132+3050G>A | gnomAD v4 |
2 | g.215376587G>C | CA350471472 | FN1 | c.5798C>G (p.Thr1933Ser) c.5525C>G (p.Thr1842Ser) c.5255C>G (p.Thr1752Ser) c.5528C>G (p.Thr1843Ser) c.1676C>G (p.Thr559Ser) n.883C>G n.6935C>G n.132+3050G>C | ClinVar gnomAD v4 |
2 | g.215376587G>T | CA350471478 | FN1 | c.5798C>A (p.Thr1933Asn) c.5525C>A (p.Thr1842Asn) c.5255C>A (p.Thr1752Asn) c.5528C>A (p.Thr1843Asn) c.1676C>A (p.Thr559Asn) n.883C>A n.6935C>A n.132+3050G>T | |
2 | g.215376588T>A | CA350471484 | FN1 | c.5797A>T (p.Thr1933Ser) c.5524A>T (p.Thr1842Ser) c.5254A>T (p.Thr1752Ser) c.5527A>T (p.Thr1843Ser) c.1675A>T (p.Thr559Ser) n.882A>T n.6934A>T n.132+3051T>A | |
2 | g.215376588T>C | CA350471482 | FN1 | c.5797A>G (p.Thr1933Ala) c.5524A>G (p.Thr1842Ala) c.5254A>G (p.Thr1752Ala) c.5527A>G (p.Thr1843Ala) c.1675A>G (p.Thr559Ala) n.882A>G n.6934A>G n.132+3051T>C | |
2 | g.215376588T>G | CA350471480 | FN1 | c.5797A>C (p.Thr1933Pro) c.5524A>C (p.Thr1842Pro) c.5254A>C (p.Thr1752Pro) c.5527A>C (p.Thr1843Pro) c.1675A>C (p.Thr559Pro) n.882A>C n.6934A>C n.132+3051T>G | |
2 | g.215376589G>A | CA431154996 | FN1 | c.5796C>T (p.Ile1932=) c.5523C>T (p.Ile1841=) c.5253C>T (p.Ile1751=) c.5526C>T (p.Ile1842=) c.1674C>T (p.Ile558=) n.881C>T n.6933C>T n.132+3052G>A | gnomAD v4 |
2 | g.215376589G>C | CA350471485 | FN1 | c.5796C>G (p.Ile1932Met) c.5523C>G (p.Ile1841Met) c.5253C>G (p.Ile1751Met) c.5526C>G (p.Ile1842Met) c.1674C>G (p.Ile558Met) n.881C>G n.6933C>G n.132+3052G>C | |
2 | g.215376589G= | CA1327346875 | FN1 | c.5796C= (p.Ile1932=) c.5523C= (p.Ile1841=) c.5253C= (p.Ile1751=) c.5526C= (p.Ile1842=) c.1674C= (p.Ile558=) n.881C= n.6933C= n.132+3052G= | |
2 | g.215376589G>T | CA2094031 | FN1 | c.5796C>A (p.Ile1932=) c.5523C>A (p.Ile1841=) c.5253C>A (p.Ile1751=) c.5526C>A (p.Ile1842=) c.1674C>A (p.Ile558=) n.881C>A n.6933C>A n.132+3052G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215376590A>C | CA350471490 | FN1 | c.5795T>G (p.Ile1932Ser) c.5522T>G (p.Ile1841Ser) c.5252T>G (p.Ile1751Ser) c.5525T>G (p.Ile1842Ser) c.1673T>G (p.Ile558Ser) n.880T>G n.6932T>G n.132+3053A>C | |
2 | g.215376590A>G | CA350471492 | FN1 | c.5795T>C (p.Ile1932Thr) c.5522T>C (p.Ile1841Thr) c.5252T>C (p.Ile1751Thr) c.5525T>C (p.Ile1842Thr) c.1673T>C (p.Ile558Thr) n.880T>C n.6932T>C n.132+3053A>G | |
2 | g.215376590A>T | CA350471494 | FN1 | c.5795T>A (p.Ile1932Asn) c.5522T>A (p.Ile1841Asn) c.5252T>A (p.Ile1751Asn) c.5525T>A (p.Ile1842Asn) c.1673T>A (p.Ile558Asn) n.880T>A n.6932T>A n.132+3053A>T | |
2 | g.215376591T>A | CA350471496 | FN1 | c.5794A>T (p.Ile1932Phe) c.5521A>T (p.Ile1841Phe) c.5251A>T (p.Ile1751Phe) c.5524A>T (p.Ile1842Phe) c.1672A>T (p.Ile558Phe) n.879A>T n.6931A>T n.132+3054T>A | |
2 | g.215376591T>C | CA350471498 | FN1 | c.5794A>G (p.Ile1932Val) c.5521A>G (p.Ile1841Val) c.5251A>G (p.Ile1751Val) c.5524A>G (p.Ile1842Val) c.1672A>G (p.Ile558Val) n.879A>G n.6931A>G n.132+3054T>C | |
2 | g.215376591T>G | CA350471500 | FN1 | c.5794A>C (p.Ile1932Leu) c.5521A>C (p.Ile1841Leu) c.5251A>C (p.Ile1751Leu) c.5524A>C (p.Ile1842Leu) c.1672A>C (p.Ile558Leu) n.879A>C n.6931A>C n.132+3054T>G | |
2 | g.215376592C>A | CA431154997 | FN1 | c.5793G>T (p.Thr1931=) c.5520G>T (p.Thr1840=) c.5250G>T (p.Thr1750=) c.5523G>T (p.Thr1841=) c.1671G>T (p.Thr557=) n.878G>T n.6930G>T n.132+3055C>A | |
2 | g.215376592C= | CA1327346876 | FN1 | c.5793G= (p.Thr1931=) c.5520G= (p.Thr1840=) c.5250G= (p.Thr1750=) c.5523G= (p.Thr1841=) c.1671G= (p.Thr557=) n.878G= n.6930G= n.132+3055C= | |
2 | g.215376592C>G | CA431154998 | FN1 | c.5793G>C (p.Thr1931=) c.5520G>C (p.Thr1840=) c.5250G>C (p.Thr1750=) c.5523G>C (p.Thr1841=) c.1671G>C (p.Thr557=) n.878G>C n.6930G>C n.132+3055C>G | gnomAD v4 |
2 | g.215376592C>T | CA2094032 | FN1 | c.5793G>A (p.Thr1931=) c.5520G>A (p.Thr1840=) c.5250G>A (p.Thr1750=) c.5523G>A (p.Thr1841=) c.1671G>A (p.Thr557=) n.878G>A n.6930G>A n.132+3055C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215376593G>A | CA2094033 | FN1 | c.5792C>T (p.Thr1931Met) c.5519C>T (p.Thr1840Met) c.5249C>T (p.Thr1750Met) c.5522C>T (p.Thr1841Met) c.1670C>T (p.Thr557Met) n.877C>T n.6929C>T n.132+3056G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.215376593G>C | CA350471505 | FN1 | c.5792C>G (p.Thr1931Arg) c.5519C>G (p.Thr1840Arg) c.5249C>G (p.Thr1750Arg) c.5522C>G (p.Thr1841Arg) c.1670C>G (p.Thr557Arg) n.877C>G n.6929C>G n.132+3056G>C | |
2 | g.215376593G= | CA1327346877 | FN1 | c.5792C= (p.Thr1931=) c.5519C= (p.Thr1840=) c.5249C= (p.Thr1750=) c.5522C= (p.Thr1841=) c.1670C= (p.Thr557=) n.877C= n.6929C= n.132+3056G= | |
2 | g.215376593G>T | CA350471507 | FN1 | c.5792C>A (p.Thr1931Lys) c.5519C>A (p.Thr1840Lys) c.5249C>A (p.Thr1750Lys) c.5522C>A (p.Thr1841Lys) c.1670C>A (p.Thr557Lys) n.877C>A n.6929C>A n.132+3056G>T | |
2 | g.215376594T>A | CA350471508 | FN1 | c.5791A>T (p.Thr1931Ser) c.5518A>T (p.Thr1840Ser) c.5248A>T (p.Thr1750Ser) c.5521A>T (p.Thr1841Ser) c.1669A>T (p.Thr557Ser) n.876A>T n.6928A>T n.132+3057T>A | |
2 | g.215376594T>C | CA350471510 | FN1 | c.5791A>G (p.Thr1931Ala) c.5518A>G (p.Thr1840Ala) c.5248A>G (p.Thr1750Ala) c.5521A>G (p.Thr1841Ala) c.1669A>G (p.Thr557Ala) n.876A>G n.6928A>G n.132+3057T>C | |
2 | g.215376594T>G | CA350471509 | FN1 | c.5791A>C (p.Thr1931Pro) c.5518A>C (p.Thr1840Pro) c.5248A>C (p.Thr1750Pro) c.5521A>C (p.Thr1841Pro) c.1669A>C (p.Thr557Pro) n.876A>C n.6928A>C n.132+3057T>G | |
2 | g.215376595C>A | CA350471511 | FN1 | c.5790G>T (p.Glu1930Asp) c.5517G>T (p.Glu1839Asp) c.5247G>T (p.Glu1749Asp) c.5520G>T (p.Glu1840Asp) c.1668G>T (p.Glu556Asp) n.875G>T n.6927G>T n.132+3058C>A | |
2 | g.215376595C>G | CA350471512 | FN1 | c.5790G>C (p.Glu1930Asp) c.5517G>C (p.Glu1839Asp) c.5247G>C (p.Glu1749Asp) c.5520G>C (p.Glu1840Asp) c.1668G>C (p.Glu556Asp) n.875G>C n.6927G>C n.132+3058C>G | |
2 | g.215376595C>T | CA431154999 | FN1 | c.5790G>A (p.Glu1930=) c.5517G>A (p.Glu1839=) c.5247G>A (p.Glu1749=) c.5520G>A (p.Glu1840=) c.1668G>A (p.Glu556=) n.875G>A n.6927G>A n.132+3058C>T | |
2 | g.215376596T>A | CA350471514 | FN1 | c.5789A>T (p.Glu1930Val) c.5516A>T (p.Glu1839Val) c.5246A>T (p.Glu1749Val) c.5519A>T (p.Glu1840Val) c.1667A>T (p.Glu556Val) n.874A>T n.6926A>T n.132+3059T>A | |
2 | g.215376596T>C | CA350471515 | FN1 | c.5789A>G (p.Glu1930Gly) c.5516A>G (p.Glu1839Gly) c.5246A>G (p.Glu1749Gly) c.5519A>G (p.Glu1840Gly) c.1667A>G (p.Glu556Gly) n.874A>G n.6926A>G n.132+3059T>C | |
2 | g.215376596T>G | CA350471517 | FN1 | c.5789A>C (p.Glu1930Ala) c.5516A>C (p.Glu1839Ala) c.5246A>C (p.Glu1749Ala) c.5519A>C (p.Glu1840Ala) c.1667A>C (p.Glu556Ala) n.874A>C n.6926A>C n.132+3059T>G | |
2 | g.215376597C>A | CA350471519 | FN1 | c.5788G>T (p.Glu1930Ter) c.5515G>T (p.Glu1839Ter) c.5245G>T (p.Glu1749Ter) c.5518G>T (p.Glu1840Ter) c.1666G>T (p.Glu556Ter) n.873G>T n.6925G>T n.132+3060C>A | |
2 | g.215376597C>G | CA350471520 | FN1 | c.5788G>C (p.Glu1930Gln) c.5515G>C (p.Glu1839Gln) c.5245G>C (p.Glu1749Gln) c.5518G>C (p.Glu1840Gln) c.1666G>C (p.Glu556Gln) n.873G>C n.6925G>C n.132+3060C>G | |
2 | g.215376597C>T | CA350471521 | FN1 | c.5788G>A (p.Glu1930Lys) c.5515G>A (p.Glu1839Lys) c.5245G>A (p.Glu1749Lys) c.5518G>A (p.Glu1840Lys) c.1666G>A (p.Glu556Lys) n.873G>A n.6925G>A n.132+3060C>T | |
2 | g.215376598A= | CA1327346878 | FN1 | c.5787T= (p.Thr1929=) c.5514T= (p.Thr1838=) c.5244T= (p.Thr1748=) c.5517T= (p.Thr1839=) c.1665T= (p.Thr555=) n.872T= n.6924T= n.132+3061A= | |
2 | g.215376598A>C | CA431155000 | FN1 | c.5787T>G (p.Thr1929=) c.5514T>G (p.Thr1838=) c.5244T>G (p.Thr1748=) c.5517T>G (p.Thr1839=) c.1665T>G (p.Thr555=) n.872T>G n.6924T>G n.132+3061A>C | |
2 | g.215376598A>G | CA64850069 | FN1 | c.5787T>C (p.Thr1929=) c.5514T>C (p.Thr1838=) c.5244T>C (p.Thr1748=) c.5517T>C (p.Thr1839=) c.1665T>C (p.Thr555=) n.872T>C n.6924T>C n.132+3061A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.215376598A>T | CA431155001 | FN1 | c.5787T>A (p.Thr1929=) c.5514T>A (p.Thr1838=) c.5244T>A (p.Thr1748=) c.5517T>A (p.Thr1839=) c.1665T>A (p.Thr555=) n.872T>A n.6924T>A n.132+3061A>T |