UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74500883_74500886delinsGCTA | CA2147073411 | LTBP2 | c.5464_*1delinsTAGC (n.[c.5464_*1delinsTAGC;Ter1822=]) c.*243_*246delinsTAGC (n.*243_*246delinsTAGC) n.682_685delinsTAGC c.5332_*1delinsTAGC (n.[c.5332_*1delinsTAGC;Ter1778=]) c.5083_*1delinsTAGC (n.[c.5083_*1delinsTAGC;Ter1695=]) c.5005_*1delinsTAGC (n.[c.5005_*1delinsTAGC;Ter1669=]) c.4981_*1delinsTAGC (n.[c.4981_*1delinsTAGC;Ter1661=]) | |
| 14 | g.74500886_74500888del | CA615024460 | LTBP2 | c.5464_5466del (p.Ter1822del) c.*243_*245del (n.*243_*245del) n.682_684del c.5332_5334del (p.Ter1778del) c.5083_5085del (p.Ter1695del) c.5005_5007del (p.Ter1669del) c.4981_4983del (p.Ter1661del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500886A= | CA2147073413 | LTBP2 | c.5464T= (p.Ter1822=) c.*243T= (n.*243T=) n.682T= c.5332T= (p.Ter1778=) c.5083T= (p.Ter1695=) c.5005T= (p.Ter1669=) c.4981T= (p.Ter1661=) | |
| 14 | g.74500886A>C | CA390381787 | LTBP2 | c.5464T>G (p.Ter1822Glu) c.*243T>G (n.*243T>G) n.682T>G c.5332T>G (p.Ter1778Glu) c.5083T>G (p.Ter1695Glu) c.5005T>G (p.Ter1669Glu) c.4981T>G (p.Ter1661Glu) | dbSNP |
| 14 | g.74500886A>G | CA263577234 | LTBP2 | c.5464T>C (p.Ter1822Gln) c.*243T>C (n.*243T>C) n.682T>C c.5332T>C (p.Ter1778Gln) c.5083T>C (p.Ter1695Gln) c.5005T>C (p.Ter1669Gln) c.4981T>C (p.Ter1661Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500886A>T | CA390381788 | LTBP2 | c.5464T>A (p.Ter1822Lys) c.*243T>A (n.*243T>A) n.682T>A c.5332T>A (p.Ter1778Lys) c.5083T>A (p.Ter1695Lys) c.5005T>A (p.Ter1669Lys) c.4981T>A (p.Ter1661Lys) | |
| 14 | g.74500887C>A | CA390381789 | LTBP2 | c.5463G>T (p.Glu1821Asp) c.*242G>T (n.*242G>T) n.681G>T c.5331G>T (p.Glu1777Asp) c.5082G>T (p.Glu1694Asp) c.5004G>T (p.Glu1668Asp) c.4980G>T (p.Glu1660Asp) | |
| 14 | g.74500887C= | CA2147073414 | LTBP2 | c.5463G= (p.Glu1821=) c.*242G= (n.*242G=) n.681G= c.5331G= (p.Glu1777=) c.5082G= (p.Glu1694=) c.5004G= (p.Glu1668=) c.4980G= (p.Glu1660=) | |
| 14 | g.74500887C>G | CA7268392 | LTBP2 | c.5463G>C (p.Glu1821Asp) c.*242G>C (n.*242G>C) n.681G>C c.5331G>C (p.Glu1777Asp) c.5082G>C (p.Glu1694Asp) c.5004G>C (p.Glu1668Asp) c.4980G>C (p.Glu1660Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500887C>T | CA487155705 | LTBP2 | c.5463G>A (p.Glu1821=) c.*242G>A (n.*242G>A) n.681G>A c.5331G>A (p.Glu1777=) c.5082G>A (p.Glu1694=) c.5004G>A (p.Glu1668=) c.4980G>A (p.Glu1660=) | ClinVar gnomAD v4 |
| 14 | g.74500888T>A | CA390381790 | LTBP2 | c.5462A>T (p.Glu1821Val) c.*241A>T (n.*241A>T) n.680A>T c.5330A>T (p.Glu1777Val) c.5081A>T (p.Glu1694Val) c.5003A>T (p.Glu1668Val) c.4979A>T (p.Glu1660Val) | gnomAD v4 |
| 14 | g.74500888T>C | CA390381791 | LTBP2 | c.5462A>G (p.Glu1821Gly) c.*241A>G (n.*241A>G) n.680A>G c.5330A>G (p.Glu1777Gly) c.5081A>G (p.Glu1694Gly) c.5003A>G (p.Glu1668Gly) c.4979A>G (p.Glu1660Gly) | |
| 14 | g.74500888T>G | CA390381792 | LTBP2 | c.5462A>C (p.Glu1821Ala) c.*241A>C (n.*241A>C) n.680A>C c.5330A>C (p.Glu1777Ala) c.5081A>C (p.Glu1694Ala) c.5003A>C (p.Glu1668Ala) c.4979A>C (p.Glu1660Ala) | |
| 14 | g.74500889C>A | CA390381795 | LTBP2 | c.5461G>T (p.Glu1821Ter) c.*240G>T (n.*240G>T) n.679G>T c.5329G>T (p.Glu1777Ter) c.5080G>T (p.Glu1694Ter) c.5002G>T (p.Glu1668Ter) c.4978G>T (p.Glu1660Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74500889C= | CA2147073415 | LTBP2 | c.5461G= (p.Glu1821=) c.*240G= (n.*240G=) n.679G= c.5329G= (p.Glu1777=) c.5080G= (p.Glu1694=) c.5002G= (p.Glu1668=) c.4978G= (p.Glu1660=) | |
| 14 | g.74500889C>G | CA390381794 | LTBP2 | c.5461G>C (p.Glu1821Gln) c.*240G>C (n.*240G>C) n.679G>C c.5329G>C (p.Glu1777Gln) c.5080G>C (p.Glu1694Gln) c.5002G>C (p.Glu1668Gln) c.4978G>C (p.Glu1660Gln) | |
| 14 | g.74500889C>T | CA390381793 | LTBP2 | c.5461G>A (p.Glu1821Lys) c.*240G>A (n.*240G>A) n.679G>A c.5329G>A (p.Glu1777Lys) c.5080G>A (p.Glu1694Lys) c.5002G>A (p.Glu1668Lys) c.4978G>A (p.Glu1660Lys) | dbSNP COSMIC |
| 14 | g.74500890C>A | CA390381796 | LTBP2 | c.5460G>T (p.Lys1820Asn) c.*239G>T (n.*239G>T) n.678G>T c.5328G>T (p.Lys1776Asn) c.5079G>T (p.Lys1693Asn) c.5001G>T (p.Lys1667Asn) c.4977G>T (p.Lys1659Asn) | |
| 14 | g.74500890C>G | CA390381797 | LTBP2 | c.5460G>C (p.Lys1820Asn) c.*239G>C (n.*239G>C) n.678G>C c.5328G>C (p.Lys1776Asn) c.5079G>C (p.Lys1693Asn) c.5001G>C (p.Lys1667Asn) c.4977G>C (p.Lys1659Asn) | |
| 14 | g.74500890C>T | CA487155706 | LTBP2 | c.5460G>A (p.Lys1820=) c.*239G>A (n.*239G>A) n.678G>A c.5328G>A (p.Lys1776=) c.5079G>A (p.Lys1693=) c.5001G>A (p.Lys1667=) c.4977G>A (p.Lys1659=) | gnomAD v4 |
| 14 | g.74500891T>A | CA390381798 | LTBP2 | c.5459A>T (p.Lys1820Met) c.*238A>T (n.*238A>T) n.677A>T c.5327A>T (p.Lys1776Met) c.5078A>T (p.Lys1693Met) c.5000A>T (p.Lys1667Met) c.4976A>T (p.Lys1659Met) | |
| 14 | g.74500891T>C | CA7268393 | LTBP2 | c.5459A>G (p.Lys1820Arg) c.*238A>G (n.*238A>G) n.677A>G c.5327A>G (p.Lys1776Arg) c.5078A>G (p.Lys1693Arg) c.5000A>G (p.Lys1667Arg) c.4976A>G (p.Lys1659Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500891T>G | CA390381799 | LTBP2 | c.5459A>C (p.Lys1820Thr) c.*238A>C (n.*238A>C) n.677A>C c.5327A>C (p.Lys1776Thr) c.5078A>C (p.Lys1693Thr) c.5000A>C (p.Lys1667Thr) c.4976A>C (p.Lys1659Thr) | |
| 14 | g.74500891T= | CA2147073416 | LTBP2 | c.5459A= (p.Lys1820=) c.*238A= (n.*238A=) n.677A= c.5327A= (p.Lys1776=) c.5078A= (p.Lys1693=) c.5000A= (p.Lys1667=) c.4976A= (p.Lys1659=) | |
| 14 | g.74500892T>A | CA390381800 | LTBP2 | c.5458A>T (p.Lys1820Ter) c.*237A>T (n.*237A>T) n.676A>T c.5326A>T (p.Lys1776Ter) c.5077A>T (p.Lys1693Ter) c.4999A>T (p.Lys1667Ter) c.4975A>T (p.Lys1659Ter) | COSMIC |
| 14 | g.74500892T>C | CA390381801 | LTBP2 | c.5458A>G (p.Lys1820Glu) c.*237A>G (n.*237A>G) n.676A>G c.5326A>G (p.Lys1776Glu) c.5077A>G (p.Lys1693Glu) c.4999A>G (p.Lys1667Glu) c.4975A>G (p.Lys1659Glu) | |
| 14 | g.74500892T>G | CA390381802 | LTBP2 | c.5458A>C (p.Lys1820Gln) c.*237A>C (n.*237A>C) n.676A>C c.5326A>C (p.Lys1776Gln) c.5077A>C (p.Lys1693Gln) c.4999A>C (p.Lys1667Gln) c.4975A>C (p.Lys1659Gln) | |
| 14 | g.74500893G>A | CA7268394 | LTBP2 | c.5457C>T (p.Ala1819=) c.*236C>T (n.*236C>T) n.675C>T c.5325C>T (p.Ala1775=) c.5076C>T (p.Ala1692=) c.4998C>T (p.Ala1666=) c.4974C>T (p.Ala1658=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500893G>C | CA487155708 | LTBP2 | c.5457C>G (p.Ala1819=) c.*236C>G (n.*236C>G) n.675C>G c.5325C>G (p.Ala1775=) c.5076C>G (p.Ala1692=) c.4998C>G (p.Ala1666=) c.4974C>G (p.Ala1658=) | |
| 14 | g.74500893G= | CA2147073417 | LTBP2 | c.5457C= (p.Ala1819=) c.*236C= (n.*236C=) n.675C= c.5325C= (p.Ala1775=) c.5076C= (p.Ala1692=) c.4998C= (p.Ala1666=) c.4974C= (p.Ala1658=) | |
| 14 | g.74500893G>T | CA487155707 | LTBP2 | c.5457C>A (p.Ala1819=) c.*236C>A (n.*236C>A) n.675C>A c.5325C>A (p.Ala1775=) c.5076C>A (p.Ala1692=) c.4998C>A (p.Ala1666=) c.4974C>A (p.Ala1658=) | |
| 14 | g.74500894G>A | CA390381803 | LTBP2 | c.5456C>T (p.Ala1819Val) c.*235C>T (n.*235C>T) n.674C>T c.5324C>T (p.Ala1775Val) c.5075C>T (p.Ala1692Val) c.4997C>T (p.Ala1666Val) c.4973C>T (p.Ala1658Val) | |
| 14 | g.74500894G>C | CA390381804 | LTBP2 | c.5456C>G (p.Ala1819Gly) c.*235C>G (n.*235C>G) n.674C>G c.5324C>G (p.Ala1775Gly) c.5075C>G (p.Ala1692Gly) c.4997C>G (p.Ala1666Gly) c.4973C>G (p.Ala1658Gly) | |
| 14 | g.74500894G>T | CA390381805 | LTBP2 | c.5456C>A (p.Ala1819Asp) c.*235C>A (n.*235C>A) n.674C>A c.5324C>A (p.Ala1775Asp) c.5075C>A (p.Ala1692Asp) c.4997C>A (p.Ala1666Asp) c.4973C>A (p.Ala1658Asp) | |
| 14 | g.74500895C>A | CA390381808 | LTBP2 | c.5455G>T (p.Ala1819Ser) c.*234G>T (n.*234G>T) n.673G>T c.5323G>T (p.Ala1775Ser) c.5074G>T (p.Ala1692Ser) c.4996G>T (p.Ala1666Ser) c.4972G>T (p.Ala1658Ser) | |
| 14 | g.74500895C>G | CA390381807 | LTBP2 | c.5455G>C (p.Ala1819Pro) c.*234G>C (n.*234G>C) n.673G>C c.5323G>C (p.Ala1775Pro) c.5074G>C (p.Ala1692Pro) c.4996G>C (p.Ala1666Pro) c.4972G>C (p.Ala1658Pro) | |
| 14 | g.74500895C>T | CA390381806 | LTBP2 | c.5455G>A (p.Ala1819Thr) c.*234G>A (n.*234G>A) n.673G>A c.5323G>A (p.Ala1775Thr) c.5074G>A (p.Ala1692Thr) c.4996G>A (p.Ala1666Thr) c.4972G>A (p.Ala1658Thr) | |
| 14 | g.74500896A>C | CA487155709 | LTBP2 | c.5454T>G (p.Thr1818=) c.*233T>G (n.*233T>G) n.672T>G c.5322T>G (p.Thr1774=) c.5073T>G (p.Thr1691=) c.4995T>G (p.Thr1665=) c.4971T>G (p.Thr1657=) | |
| 14 | g.74500896A>G | CA487155710 | LTBP2 | c.5454T>C (p.Thr1818=) c.*233T>C (n.*233T>C) n.672T>C c.5322T>C (p.Thr1774=) c.5073T>C (p.Thr1691=) c.4995T>C (p.Thr1665=) c.4971T>C (p.Thr1657=) | gnomAD v4 |
| 14 | g.74500896A>T | CA487155711 | LTBP2 | c.5454T>A (p.Thr1818=) c.*233T>A (n.*233T>A) n.672T>A c.5322T>A (p.Thr1774=) c.5073T>A (p.Thr1691=) c.4995T>A (p.Thr1665=) c.4971T>A (p.Thr1657=) | |
| 14 | g.74500897G>A | CA7268395 | LTBP2 | c.5453C>T (p.Thr1818Ile) c.*232C>T (n.*232C>T) n.671C>T c.5321C>T (p.Thr1774Ile) c.5072C>T (p.Thr1691Ile) c.4994C>T (p.Thr1665Ile) c.4970C>T (p.Thr1657Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500897G>C | CA390381809 | LTBP2 | c.5453C>G (p.Thr1818Ser) c.*232C>G (n.*232C>G) n.671C>G c.5321C>G (p.Thr1774Ser) c.5072C>G (p.Thr1691Ser) c.4994C>G (p.Thr1665Ser) c.4970C>G (p.Thr1657Ser) | |
| 14 | g.74500897G= | CA2147073418 | LTBP2 | c.5453C= (p.Thr1818=) c.*232C= (n.*232C=) n.671C= c.5321C= (p.Thr1774=) c.5072C= (p.Thr1691=) c.4994C= (p.Thr1665=) c.4970C= (p.Thr1657=) | |
| 14 | g.74500897G>T | CA390381810 | LTBP2 | c.5453C>A (p.Thr1818Asn) c.*232C>A (n.*232C>A) n.671C>A c.5321C>A (p.Thr1774Asn) c.5072C>A (p.Thr1691Asn) c.4994C>A (p.Thr1665Asn) c.4970C>A (p.Thr1657Asn) | |
| 14 | g.74500898T>A | CA390381811 | LTBP2 | c.5452A>T (p.Thr1818Ser) c.*231A>T (n.*231A>T) n.670A>T c.5320A>T (p.Thr1774Ser) c.5071A>T (p.Thr1691Ser) c.4993A>T (p.Thr1665Ser) c.4969A>T (p.Thr1657Ser) | |
| 14 | g.74500898T>C | CA390381812 | LTBP2 | c.5452A>G (p.Thr1818Ala) c.*231A>G (n.*231A>G) n.670A>G c.5320A>G (p.Thr1774Ala) c.5071A>G (p.Thr1691Ala) c.4993A>G (p.Thr1665Ala) c.4969A>G (p.Thr1657Ala) | gnomAD v4 |
| 14 | g.74500898T>G | CA390381813 | LTBP2 | c.5452A>C (p.Thr1818Pro) c.*231A>C (n.*231A>C) n.670A>C c.5320A>C (p.Thr1774Pro) c.5071A>C (p.Thr1691Pro) c.4993A>C (p.Thr1665Pro) c.4969A>C (p.Thr1657Pro) | |
| 14 | g.74500899G>A | CA7268396 | LTBP2 | c.5451C>T (p.Cys1817=) c.*230C>T (n.*230C>T) n.669C>T c.5319C>T (p.Cys1773=) c.5070C>T (p.Cys1690=) c.4992C>T (p.Cys1664=) c.4968C>T (p.Cys1656=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500899G>C | CA390381814 | LTBP2 | c.5451C>G (p.Cys1817Trp) c.*230C>G (n.*230C>G) n.669C>G c.5319C>G (p.Cys1773Trp) c.5070C>G (p.Cys1690Trp) c.4992C>G (p.Cys1664Trp) c.4968C>G (p.Cys1656Trp) | |
| 14 | g.74500899G= | CA2147073419 | LTBP2 | c.5451C= (p.Cys1817=) c.*230C= (n.*230C=) n.669C= c.5319C= (p.Cys1773=) c.5070C= (p.Cys1690=) c.4992C= (p.Cys1664=) c.4968C= (p.Cys1656=) | |
| 14 | g.74500899G>T | CA390381815 | LTBP2 | c.5451C>A (p.Cys1817Ter) c.*230C>A (n.*230C>A) n.669C>A c.5319C>A (p.Cys1773Ter) c.5070C>A (p.Cys1690Ter) c.4992C>A (p.Cys1664Ter) c.4968C>A (p.Cys1656Ter) | |
| 14 | g.74500900C>A | CA390381816 | LTBP2 | c.5450G>T (p.Cys1817Phe) c.*229G>T (n.*229G>T) n.668G>T c.5318G>T (p.Cys1773Phe) c.5069G>T (p.Cys1690Phe) c.4991G>T (p.Cys1664Phe) c.4967G>T (p.Cys1656Phe) | |
| 14 | g.74500900C>G | CA390381817 | LTBP2 | c.5450G>C (p.Cys1817Ser) c.*229G>C (n.*229G>C) n.668G>C c.5318G>C (p.Cys1773Ser) c.5069G>C (p.Cys1690Ser) c.4991G>C (p.Cys1664Ser) c.4967G>C (p.Cys1656Ser) | |
| 14 | g.74500900C>T | CA390381818 | LTBP2 | c.5450G>A (p.Cys1817Tyr) c.*229G>A (n.*229G>A) n.668G>A c.5318G>A (p.Cys1773Tyr) c.5069G>A (p.Cys1690Tyr) c.4991G>A (p.Cys1664Tyr) c.4967G>A (p.Cys1656Tyr) | |
| 14 | g.74500901A>C | CA390381821 | LTBP2 | c.5449T>G (p.Cys1817Gly) c.*228T>G (n.*228T>G) n.667T>G c.5317T>G (p.Cys1773Gly) c.5068T>G (p.Cys1690Gly) c.4990T>G (p.Cys1664Gly) c.4966T>G (p.Cys1656Gly) | |
| 14 | g.74500901A>G | CA390381820 | LTBP2 | c.5449T>C (p.Cys1817Arg) c.*228T>C (n.*228T>C) n.667T>C c.5317T>C (p.Cys1773Arg) c.5068T>C (p.Cys1690Arg) c.4990T>C (p.Cys1664Arg) c.4966T>C (p.Cys1656Arg) | |
| 14 | g.74500901A>T | CA390381819 | LTBP2 | c.5449T>A (p.Cys1817Ser) c.*228T>A (n.*228T>A) n.667T>A c.5317T>A (p.Cys1773Ser) c.5068T>A (p.Cys1690Ser) c.4990T>A (p.Cys1664Ser) c.4966T>A (p.Cys1656Ser) | COSMIC |
| 14 | g.74500902G>A | CA487155712 | LTBP2 | c.5448C>T (p.His1816=) c.*227C>T (n.*227C>T) n.666C>T c.5316C>T (p.His1772=) c.5067C>T (p.His1689=) c.4989C>T (p.His1663=) c.4965C>T (p.His1655=) | |
| 14 | g.74500902G>C | CA390381822 | LTBP2 | c.5448C>G (p.His1816Gln) c.*227C>G (n.*227C>G) n.666C>G c.5316C>G (p.His1772Gln) c.5067C>G (p.His1689Gln) c.4989C>G (p.His1663Gln) c.4965C>G (p.His1655Gln) | |
| 14 | g.74500902G>T | CA390381823 | LTBP2 | c.5448C>A (p.His1816Gln) c.*227C>A (n.*227C>A) n.666C>A c.5316C>A (p.His1772Gln) c.5067C>A (p.His1689Gln) c.4989C>A (p.His1663Gln) c.4965C>A (p.His1655Gln) | |
| 14 | g.74500902dup | CA645569592 | LTBP2 | c.5448dup (p.Cys1817LeufsTer27) c.*227dup (n.*227dup) n.666dup c.5316dup (p.Cys1773LeufsTer27) c.5067dup (p.Cys1690LeufsTer27) c.4989dup (p.Cys1664LeufsTer27) c.4965dup (p.Cys1656LeufsTer27) | COSMIC |
| 14 | g.74500903T>A | CA390381824 | LTBP2 | c.5447A>T (p.His1816Leu) c.*226A>T (n.*226A>T) n.665A>T c.5315A>T (p.His1772Leu) c.5066A>T (p.His1689Leu) c.4988A>T (p.His1663Leu) c.4964A>T (p.His1655Leu) | |
| 14 | g.74500903T>C | CA390381825 | LTBP2 | c.5447A>G (p.His1816Arg) c.*226A>G (n.*226A>G) n.665A>G c.5315A>G (p.His1772Arg) c.5066A>G (p.His1689Arg) c.4988A>G (p.His1663Arg) c.4964A>G (p.His1655Arg) | |
| 14 | g.74500903T>G | CA390381826 | LTBP2 | c.5447A>C (p.His1816Pro) c.*226A>C (n.*226A>C) n.665A>C c.5315A>C (p.His1772Pro) c.5066A>C (p.His1689Pro) c.4988A>C (p.His1663Pro) c.4964A>C (p.His1655Pro) | |
| 14 | g.74500903T= | CA2147073420 | LTBP2 | c.5447A= (p.His1816=) c.*226A= (n.*226A=) n.665A= c.5315A= (p.His1772=) c.5066A= (p.His1689=) c.4988A= (p.His1663=) c.4964A= (p.His1655=) | |
| 14 | g.74500903_74500904insC | CA645569593 | LTBP2 | c.5446_5447insG (p.His1816ArgfsTer28) c.*225_*226insG (n.*225_*226insG) n.664_665insG c.5314_5315insG (p.His1772ArgfsTer28) c.5065_5066insG (p.His1689ArgfsTer28) c.4987_4988insG (p.His1663ArgfsTer28) c.4963_4964insG (p.His1655ArgfsTer28) | COSMIC |
| 14 | g.74500904G>A | CA390381827 | LTBP2 | c.5446C>T (p.His1816Tyr) c.*225C>T (n.*225C>T) n.664C>T c.5314C>T (p.His1772Tyr) c.5065C>T (p.His1689Tyr) c.4987C>T (p.His1663Tyr) c.4963C>T (p.His1655Tyr) | gnomAD v4 |
| 14 | g.74500904G>C | CA390381828 | LTBP2 | c.5446C>G (p.His1816Asp) c.*225C>G (n.*225C>G) n.664C>G c.5314C>G (p.His1772Asp) c.5065C>G (p.His1689Asp) c.4987C>G (p.His1663Asp) c.4963C>G (p.His1655Asp) | |
| 14 | g.74500904G= | CA2147073421 | LTBP2 | c.5446C= (p.His1816=) c.*225C= (n.*225C=) n.664C= c.5314C= (p.His1772=) c.5065C= (p.His1689=) c.4987C= (p.His1663=) c.4963C= (p.His1655=) | |
| 14 | g.74500904G>T | CA7268398 | LTBP2 | c.5446C>A (p.His1816Asn) c.*225C>A (n.*225C>A) n.664C>A c.5314C>A (p.His1772Asn) c.5065C>A (p.His1689Asn) c.4987C>A (p.His1663Asn) c.4963C>A (p.His1655Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500910dup | CA7268397 | LTBP2 | c.5446dup (p.His1816ProfsTer28) c.*225dup (n.*225dup) n.664dup c.5314dup (p.His1772ProfsTer28) c.5065dup (p.His1689ProfsTer28) c.4987dup (p.His1663ProfsTer28) c.4963dup (p.His1655ProfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.74500909_74500910dup | CA2802156142 | LTBP2 | c.5445_5446dup (p.His1816ProfsTer?) c.*224_*225dup (n.*224_*225dup) n.663_664dup c.5313_5314dup (p.His1772ProfsTer?) c.5064_5065dup (p.His1689ProfsTer?) c.4986_4987dup (p.His1663ProfsTer?) c.4962_4963dup (p.His1655ProfsTer?) | |
| 14 | g.74500910del | CA487155713 | LTBP2 | c.5446del (p.His1816ThrfsTer?) c.*225del (n.*225del) n.664del c.5314del (p.His1772ThrfsTer?) c.5065del (p.His1689ThrfsTer?) c.4987del (p.His1663ThrfsTer?) c.4963del (p.His1655ThrfsTer?) | gnomAD v2 COSMIC |
| 14 | g.74500904_74500905insC | CA487155714 | LTBP2 | c.5445_5446insG (p.His1816AlafsTer28) c.*224_*225insG (n.*224_*225insG) n.663_664insG c.5313_5314insG (p.His1772AlafsTer28) c.5064_5065insG (p.His1689AlafsTer28) c.4986_4987insG (p.His1663AlafsTer28) c.4962_4963insG (p.His1655AlafsTer28) | |
| 14 | g.74500905G>A | CA263577253 | LTBP2 | c.5445C>T (p.Pro1815=) c.*224C>T (n.*224C>T) n.663C>T c.5313C>T (p.Pro1771=) c.5064C>T (p.Pro1688=) c.4986C>T (p.Pro1662=) c.4962C>T (p.Pro1654=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500905G>C | CA487155715 | LTBP2 | c.5445C>G (p.Pro1815=) c.*224C>G (n.*224C>G) n.663C>G c.5313C>G (p.Pro1771=) c.5064C>G (p.Pro1688=) c.4986C>G (p.Pro1662=) c.4962C>G (p.Pro1654=) | |
| 14 | g.74500905G= | CA2147073422 | LTBP2 | c.5445C= (p.Pro1815=) c.*224C= (n.*224C=) n.663C= c.5313C= (p.Pro1771=) c.5064C= (p.Pro1688=) c.4986C= (p.Pro1662=) c.4962C= (p.Pro1654=) | |
| 14 | g.74500905G>T | CA487155716 | LTBP2 | c.5445C>A (p.Pro1815=) c.*224C>A (n.*224C>A) n.663C>A c.5313C>A (p.Pro1771=) c.5064C>A (p.Pro1688=) c.4986C>A (p.Pro1662=) c.4962C>A (p.Pro1654=) | |
| 14 | g.74500906G>A | CA7268399 | LTBP2 | c.5444C>T (p.Pro1815Leu) c.*223C>T (n.*223C>T) n.662C>T c.5312C>T (p.Pro1771Leu) c.5063C>T (p.Pro1688Leu) c.4985C>T (p.Pro1662Leu) c.4961C>T (p.Pro1654Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500906G>C | CA390381829 | LTBP2 | c.5444C>G (p.Pro1815Arg) c.*223C>G (n.*223C>G) n.662C>G c.5312C>G (p.Pro1771Arg) c.5063C>G (p.Pro1688Arg) c.4985C>G (p.Pro1662Arg) c.4961C>G (p.Pro1654Arg) | |
| 14 | g.74500906G= | CA2147073423 | LTBP2 | c.5444C= (p.Pro1815=) c.*223C= (n.*223C=) n.662C= c.5312C= (p.Pro1771=) c.5063C= (p.Pro1688=) c.4985C= (p.Pro1662=) c.4961C= (p.Pro1654=) | |
| 14 | g.74500906G>T | CA390381830 | LTBP2 | c.5444C>A (p.Pro1815His) c.*223C>A (n.*223C>A) n.662C>A c.5312C>A (p.Pro1771His) c.5063C>A (p.Pro1688His) c.4985C>A (p.Pro1662His) c.4961C>A (p.Pro1654His) | gnomAD v4 |
| 14 | g.74500907G>A | CA390381833 | LTBP2 | c.5443C>T (p.Pro1815Ser) c.*222C>T (n.*222C>T) n.661C>T c.5311C>T (p.Pro1771Ser) c.5062C>T (p.Pro1688Ser) c.4984C>T (p.Pro1662Ser) c.4960C>T (p.Pro1654Ser) | |
| 14 | g.74500907G>C | CA390381832 | LTBP2 | c.5443C>G (p.Pro1815Ala) c.*222C>G (n.*222C>G) n.661C>G c.5311C>G (p.Pro1771Ala) c.5062C>G (p.Pro1688Ala) c.4984C>G (p.Pro1662Ala) c.4960C>G (p.Pro1654Ala) | |
| 14 | g.74500907G= | CA2147073424 | LTBP2 | c.5443C= (p.Pro1815=) c.*222C= (n.*222C=) n.661C= c.5311C= (p.Pro1771=) c.5062C= (p.Pro1688=) c.4984C= (p.Pro1662=) c.4960C= (p.Pro1654=) | |
| 14 | g.74500907G>T | CA390381831 | LTBP2 | c.5443C>A (p.Pro1815Thr) c.*222C>A (n.*222C>A) n.661C>A c.5311C>A (p.Pro1771Thr) c.5062C>A (p.Pro1688Thr) c.4984C>A (p.Pro1662Thr) c.4960C>A (p.Pro1654Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74500908G>A | CA7268400 | LTBP2 | c.5442C>T (p.Pro1814=) c.*221C>T (n.*221C>T) n.660C>T c.5310C>T (p.Pro1770=) c.5061C>T (p.Pro1687=) c.4983C>T (p.Pro1661=) c.4959C>T (p.Pro1653=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500908G>C | CA487155718 | LTBP2 | c.5442C>G (p.Pro1814=) c.*221C>G (n.*221C>G) n.660C>G c.5310C>G (p.Pro1770=) c.5061C>G (p.Pro1687=) c.4983C>G (p.Pro1661=) c.4959C>G (p.Pro1653=) | |
| 14 | g.74500908G= | CA2147073425 | LTBP2 | c.5442C= (p.Pro1814=) c.*221C= (n.*221C=) n.660C= c.5310C= (p.Pro1770=) c.5061C= (p.Pro1687=) c.4983C= (p.Pro1661=) c.4959C= (p.Pro1653=) | |
| 14 | g.74500908G>T | CA487155717 | LTBP2 | c.5442C>A (p.Pro1814=) c.*221C>A (n.*221C>A) n.660C>A c.5310C>A (p.Pro1770=) c.5061C>A (p.Pro1687=) c.4983C>A (p.Pro1661=) c.4959C>A (p.Pro1653=) | |
| 14 | g.74500909G>A | CA390381836 | LTBP2 | c.5441C>T (p.Pro1814Leu) c.*220C>T (n.*220C>T) n.659C>T c.5309C>T (p.Pro1770Leu) c.5060C>T (p.Pro1687Leu) c.4982C>T (p.Pro1661Leu) c.4958C>T (p.Pro1653Leu) | ClinVar |
| 14 | g.74500909G>C | CA390381834 | LTBP2 | c.5441C>G (p.Pro1814Arg) c.*220C>G (n.*220C>G) n.659C>G c.5309C>G (p.Pro1770Arg) c.5060C>G (p.Pro1687Arg) c.4982C>G (p.Pro1661Arg) c.4958C>G (p.Pro1653Arg) | gnomAD v4 |
| 14 | g.74500909G>T | CA390381835 | LTBP2 | c.5441C>A (p.Pro1814His) c.*220C>A (n.*220C>A) n.659C>A c.5309C>A (p.Pro1770His) c.5060C>A (p.Pro1687His) c.4982C>A (p.Pro1661His) c.4958C>A (p.Pro1653His) | |
| 14 | g.74500910G>A | CA7268401 | LTBP2 | c.5440C>T (p.Pro1814Ser) c.*219C>T (n.*219C>T) n.658C>T c.5308C>T (p.Pro1770Ser) c.5059C>T (p.Pro1687Ser) c.4981C>T (p.Pro1661Ser) c.4957C>T (p.Pro1653Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500910G>C | CA390381837 | LTBP2 | c.5440C>G (p.Pro1814Ala) c.*219C>G (n.*219C>G) n.658C>G c.5308C>G (p.Pro1770Ala) c.5059C>G (p.Pro1687Ala) c.4981C>G (p.Pro1661Ala) c.4957C>G (p.Pro1653Ala) | gnomAD v4 |
| 14 | g.74500910G= | CA2147073426 | LTBP2 | c.5440C= (p.Pro1814=) c.*219C= (n.*219C=) n.658C= c.5308C= (p.Pro1770=) c.5059C= (p.Pro1687=) c.4981C= (p.Pro1661=) c.4957C= (p.Pro1653=) | |
| 14 | g.74500910G>T | CA390381838 | LTBP2 | c.5440C>A (p.Pro1814Thr) c.*219C>A (n.*219C>A) n.658C>A c.5308C>A (p.Pro1770Thr) c.5059C>A (p.Pro1687Thr) c.4981C>A (p.Pro1661Thr) c.4957C>A (p.Pro1653Thr) | |
| 14 | g.74500910_74500911insT | CA2625672155 | LTBP2 | c.5439_5440insA (p.Pro1814ThrfsTer30) c.*218_*219insA (n.*218_*219insA) n.657_658insA c.5307_5308insA (p.Pro1770ThrfsTer30) c.5058_5059insA (p.Pro1687ThrfsTer30) c.4980_4981insA (p.Pro1661ThrfsTer30) c.4956_4957insA (p.Pro1653ThrfsTer30) | gnomAD v4 |
| 14 | g.74500911C>A | CA487155719 | LTBP2 | c.5439G>T (p.Gly1813=) c.*218G>T (n.*218G>T) n.657G>T c.5307G>T (p.Gly1769=) c.5058G>T (p.Gly1686=) c.4980G>T (p.Gly1660=) c.4956G>T (p.Gly1652=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74500911C= | CA2147073427 | LTBP2 | c.5439G= (p.Gly1813=) c.*218G= (n.*218G=) n.657G= c.5307G= (p.Gly1769=) c.5058G= (p.Gly1686=) c.4980G= (p.Gly1660=) c.4956G= (p.Gly1652=) | |
| 14 | g.74500911C>G | CA487155720 | LTBP2 | c.5439G>C (p.Gly1813=) c.*218G>C (n.*218G>C) n.657G>C c.5307G>C (p.Gly1769=) c.5058G>C (p.Gly1686=) c.4980G>C (p.Gly1660=) c.4956G>C (p.Gly1652=) | dbSNP gnomAD v4 |
| 14 | g.74500911C>T | CA487155721 | LTBP2 | c.5439G>A (p.Gly1813=) c.*218G>A (n.*218G>A) n.657G>A c.5307G>A (p.Gly1769=) c.5058G>A (p.Gly1686=) c.4980G>A (p.Gly1660=) c.4956G>A (p.Gly1652=) | |
| 14 | g.74500912C>A | CA390381840 | LTBP2 | c.5438G>T (p.Gly1813Val) c.*217G>T (n.*217G>T) n.656G>T c.5306G>T (p.Gly1769Val) c.5057G>T (p.Gly1686Val) c.4979G>T (p.Gly1660Val) c.4955G>T (p.Gly1652Val) | dbSNP |
| 14 | g.74500912C= | CA2147073428 | LTBP2 | c.5438G= (p.Gly1813=) c.*217G= (n.*217G=) n.656G= c.5306G= (p.Gly1769=) c.5057G= (p.Gly1686=) c.4979G= (p.Gly1660=) c.4955G= (p.Gly1652=) | |
| 14 | g.74500912C>G | CA390381839 | LTBP2 | c.5438G>C (p.Gly1813Ala) c.*217G>C (n.*217G>C) n.656G>C c.5306G>C (p.Gly1769Ala) c.5057G>C (p.Gly1686Ala) c.4979G>C (p.Gly1660Ala) c.4955G>C (p.Gly1652Ala) | gnomAD v4 |
| 14 | g.74500912C>T | CA7268402 | LTBP2 | c.5438G>A (p.Gly1813Glu) c.*217G>A (n.*217G>A) n.656G>A c.5306G>A (p.Gly1769Glu) c.5057G>A (p.Gly1686Glu) c.4979G>A (p.Gly1660Glu) c.4955G>A (p.Gly1652Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500913C>A | CA390381841 | LTBP2 | c.5437G>T (p.Gly1813Trp) c.*216G>T (n.*216G>T) n.655G>T c.5305G>T (p.Gly1769Trp) c.5056G>T (p.Gly1686Trp) c.4978G>T (p.Gly1660Trp) c.4954G>T (p.Gly1652Trp) | |
| 14 | g.74500913C>G | CA390381842 | LTBP2 | c.5437G>C (p.Gly1813Arg) c.*216G>C (n.*216G>C) n.655G>C c.5305G>C (p.Gly1769Arg) c.5056G>C (p.Gly1686Arg) c.4978G>C (p.Gly1660Arg) c.4954G>C (p.Gly1652Arg) | |
| 14 | g.74500913C>T | CA390381843 | LTBP2 | c.5437G>A (p.Gly1813Arg) c.*216G>A (n.*216G>A) n.655G>A c.5305G>A (p.Gly1769Arg) c.5056G>A (p.Gly1686Arg) c.4978G>A (p.Gly1660Arg) c.4954G>A (p.Gly1652Arg) | dbSNP |
| 14 | g.74500914T>A | CA487155722 | LTBP2 | c.5436A>T (p.Ala1812=) c.*215A>T (n.*215A>T) n.654A>T c.5304A>T (p.Ala1768=) c.5055A>T (p.Ala1685=) c.4977A>T (p.Ala1659=) c.4953A>T (p.Ala1651=) | |
| 14 | g.74500914T>C | CA487155723 | LTBP2 | c.5436A>G (p.Ala1812=) c.*215A>G (n.*215A>G) n.654A>G c.5304A>G (p.Ala1768=) c.5055A>G (p.Ala1685=) c.4977A>G (p.Ala1659=) c.4953A>G (p.Ala1651=) | |
| 14 | g.74500914T>G | CA487155724 | LTBP2 | c.5436A>C (p.Ala1812=) c.*215A>C (n.*215A>C) n.654A>C c.5304A>C (p.Ala1768=) c.5055A>C (p.Ala1685=) c.4977A>C (p.Ala1659=) c.4953A>C (p.Ala1651=) | |
| 14 | g.74500915G>A | CA390381844 | LTBP2 | c.5435C>T (p.Ala1812Val) c.*214C>T (n.*214C>T) n.653C>T c.5303C>T (p.Ala1768Val) c.5054C>T (p.Ala1685Val) c.4976C>T (p.Ala1659Val) c.4952C>T (p.Ala1651Val) | |
| 14 | g.74500915G>C | CA390381845 | LTBP2 | c.5435C>G (p.Ala1812Gly) c.*214C>G (n.*214C>G) n.653C>G c.5303C>G (p.Ala1768Gly) c.5054C>G (p.Ala1685Gly) c.4976C>G (p.Ala1659Gly) c.4952C>G (p.Ala1651Gly) | |
| 14 | g.74500915G>T | CA390381846 | LTBP2 | c.5435C>A (p.Ala1812Glu) c.*214C>A (n.*214C>A) n.653C>A c.5303C>A (p.Ala1768Glu) c.5054C>A (p.Ala1685Glu) c.4976C>A (p.Ala1659Glu) c.4952C>A (p.Ala1651Glu) | dbSNP |
| 14 | g.74500915_74500916delinsGC | CA2147073429 | LTBP2 | c.5434_5435delinsGC (p.Ala1812=) c.*213_*214delinsGC (n.*213_*214delinsGC) n.652_653delinsGC c.5302_5303delinsGC (p.Ala1768=) c.5053_5054delinsGC (p.Ala1685=) c.4975_4976delinsGC (p.Ala1659=) c.4951_4952delinsGC (p.Ala1651=) | |
| 14 | g.74500916C>A | CA390381849 | LTBP2 | c.5434G>T (p.Ala1812Ser) c.*213G>T (n.*213G>T) n.652G>T c.5302G>T (p.Ala1768Ser) c.5053G>T (p.Ala1685Ser) c.4975G>T (p.Ala1659Ser) c.4951G>T (p.Ala1651Ser) | |
| 14 | g.74500916C= | CA2147073430 | LTBP2 | c.5434G= (p.Ala1812=) c.*213G= (n.*213G=) n.652G= c.5302G= (p.Ala1768=) c.5053G= (p.Ala1685=) c.4975G= (p.Ala1659=) c.4951G= (p.Ala1651=) | |
| 14 | g.74500916C>G | CA390381847 | LTBP2 | c.5434G>C (p.Ala1812Pro) c.*213G>C (n.*213G>C) n.652G>C c.5302G>C (p.Ala1768Pro) c.5053G>C (p.Ala1685Pro) c.4975G>C (p.Ala1659Pro) c.4951G>C (p.Ala1651Pro) | |
| 14 | g.74500916C>T | CA390381848 | LTBP2 | c.5434G>A (p.Ala1812Thr) c.*213G>A (n.*213G>A) n.652G>A c.5302G>A (p.Ala1768Thr) c.5053G>A (p.Ala1685Thr) c.4975G>A (p.Ala1659Thr) c.4951G>A (p.Ala1651Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500917del | CA615024503 | LTBP2 | c.5434del (p.Ala1812GlnfsTer?) c.*213del (n.*213del) n.652del c.5302del (p.Ala1768GlnfsTer?) c.5053del (p.Ala1685GlnfsTer?) c.4975del (p.Ala1659GlnfsTer?) c.4951del (p.Ala1651GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74500917C>A | CA390381850 | LTBP2 | c.5433G>T (p.Glu1811Asp) c.*212G>T (n.*212G>T) n.651G>T c.5301G>T (p.Glu1767Asp) c.5052G>T (p.Glu1684Asp) c.4974G>T (p.Glu1658Asp) c.4950G>T (p.Glu1650Asp) | |
| 14 | g.74500917C= | CA2147073431 | LTBP2 | c.5433G= (p.Glu1811=) c.*212G= (n.*212G=) n.651G= c.5301G= (p.Glu1767=) c.5052G= (p.Glu1684=) c.4974G= (p.Glu1658=) c.4950G= (p.Glu1650=) | |
| 14 | g.74500917C>G | CA390381851 | LTBP2 | c.5433G>C (p.Glu1811Asp) c.*212G>C (n.*212G>C) n.651G>C c.5301G>C (p.Glu1767Asp) c.5052G>C (p.Glu1684Asp) c.4974G>C (p.Glu1658Asp) c.4950G>C (p.Glu1650Asp) | |
| 14 | g.74500917C>T | CA7268403 | LTBP2 | c.5433G>A (p.Glu1811=) c.*212G>A (n.*212G>A) n.651G>A c.5301G>A (p.Glu1767=) c.5052G>A (p.Glu1684=) c.4974G>A (p.Glu1658=) c.4950G>A (p.Glu1650=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500918T>A | CA390381852 | LTBP2 | c.5432A>T (p.Glu1811Val) c.*211A>T (n.*211A>T) n.650A>T c.5300A>T (p.Glu1767Val) c.5051A>T (p.Glu1684Val) c.4973A>T (p.Glu1658Val) c.4949A>T (p.Glu1650Val) | |
| 14 | g.74500918T>C | CA390381853 | LTBP2 | c.5432A>G (p.Glu1811Gly) c.*211A>G (n.*211A>G) n.650A>G c.5300A>G (p.Glu1767Gly) c.5051A>G (p.Glu1684Gly) c.4973A>G (p.Glu1658Gly) c.4949A>G (p.Glu1650Gly) | |
| 14 | g.74500918T>G | CA390381854 | LTBP2 | c.5432A>C (p.Glu1811Ala) c.*211A>C (n.*211A>C) n.650A>C c.5300A>C (p.Glu1767Ala) c.5051A>C (p.Glu1684Ala) c.4973A>C (p.Glu1658Ala) c.4949A>C (p.Glu1650Ala) | |
| 14 | g.74500919C>A | CA390381855 | LTBP2 | c.5431G>T (p.Glu1811Ter) c.*210G>T (n.*210G>T) n.649G>T c.5299G>T (p.Glu1767Ter) c.5050G>T (p.Glu1684Ter) c.4972G>T (p.Glu1658Ter) c.4948G>T (p.Glu1650Ter) | |
| 14 | g.74500919C>G | CA390381856 | LTBP2 | c.5431G>C (p.Glu1811Gln) c.*210G>C (n.*210G>C) n.649G>C c.5299G>C (p.Glu1767Gln) c.5050G>C (p.Glu1684Gln) c.4972G>C (p.Glu1658Gln) c.4948G>C (p.Glu1650Gln) | |
| 14 | g.74500919C>T | CA390381857 | LTBP2 | c.5431G>A (p.Glu1811Lys) c.*210G>A (n.*210G>A) n.649G>A c.5299G>A (p.Glu1767Lys) c.5050G>A (p.Glu1684Lys) c.4972G>A (p.Glu1658Lys) c.4948G>A (p.Glu1650Lys) | gnomAD v4 |
| 14 | g.74500920A= | CA2147073432 | LTBP2 | c.5430T= (p.Ala1810=) c.*209T= (n.*209T=) n.648T= c.5298T= (p.Ala1766=) c.5049T= (p.Ala1683=) c.4971T= (p.Ala1657=) c.4947T= (p.Ala1649=) | |
| 14 | g.74500920A>C | CA487155726 | LTBP2 | c.5430T>G (p.Ala1810=) c.*209T>G (n.*209T>G) n.648T>G c.5298T>G (p.Ala1766=) c.5049T>G (p.Ala1683=) c.4971T>G (p.Ala1657=) c.4947T>G (p.Ala1649=) | |
| 14 | g.74500920A>G | CA487155727 | LTBP2 | c.5430T>C (p.Ala1810=) c.*209T>C (n.*209T>C) n.648T>C c.5298T>C (p.Ala1766=) c.5049T>C (p.Ala1683=) c.4971T>C (p.Ala1657=) c.4947T>C (p.Ala1649=) | |
| 14 | g.74500920A>T | CA487155728 | LTBP2 | c.5430T>A (p.Ala1810=) c.*209T>A (n.*209T>A) n.648T>A c.5298T>A (p.Ala1766=) c.5049T>A (p.Ala1683=) c.4971T>A (p.Ala1657=) c.4947T>A (p.Ala1649=) | dbSNP |
| 14 | g.74500921G>A | CA390381858 | LTBP2 | c.5429C>T (p.Ala1810Val) c.*208C>T (n.*208C>T) n.647C>T c.5297C>T (p.Ala1766Val) c.5048C>T (p.Ala1683Val) c.4970C>T (p.Ala1657Val) c.4946C>T (p.Ala1649Val) | |
| 14 | g.74500921G>C | CA390381859 | LTBP2 | c.5429C>G (p.Ala1810Gly) c.*208C>G (n.*208C>G) n.647C>G c.5297C>G (p.Ala1766Gly) c.5048C>G (p.Ala1683Gly) c.4970C>G (p.Ala1657Gly) c.4946C>G (p.Ala1649Gly) | |
| 14 | g.74500921G>T | CA390381860 | LTBP2 | c.5429C>A (p.Ala1810Asp) c.*208C>A (n.*208C>A) n.647C>A c.5297C>A (p.Ala1766Asp) c.5048C>A (p.Ala1683Asp) c.4970C>A (p.Ala1657Asp) c.4946C>A (p.Ala1649Asp) | |
| 14 | g.74500922C>A | CA390381861 | LTBP2 | c.5428G>T (p.Ala1810Ser) c.*207G>T (n.*207G>T) n.646G>T c.5296G>T (p.Ala1766Ser) c.5047G>T (p.Ala1683Ser) c.4969G>T (p.Ala1657Ser) c.4945G>T (p.Ala1649Ser) | |
| 14 | g.74500922C= | CA2147073433 | LTBP2 | c.5428G= (p.Ala1810=) c.*207G= (n.*207G=) n.646G= c.5296G= (p.Ala1766=) c.5047G= (p.Ala1683=) c.4969G= (p.Ala1657=) c.4945G= (p.Ala1649=) | |
| 14 | g.74500922C>G | CA390381863 | LTBP2 | c.5428G>C (p.Ala1810Pro) c.*207G>C (n.*207G>C) n.646G>C c.5296G>C (p.Ala1766Pro) c.5047G>C (p.Ala1683Pro) c.4969G>C (p.Ala1657Pro) c.4945G>C (p.Ala1649Pro) | dbSNP |
| 14 | g.74500922C>T | CA390381862 | LTBP2 | c.5428G>A (p.Ala1810Thr) c.*207G>A (n.*207G>A) n.646G>A c.5296G>A (p.Ala1766Thr) c.5047G>A (p.Ala1683Thr) c.4969G>A (p.Ala1657Thr) c.4945G>A (p.Ala1649Thr) | |
| 14 | g.74500923C>A | CA487155729 | LTBP2 | c.5427G>T (p.Val1809=) c.*206G>T (n.*206G>T) n.645G>T c.5295G>T (p.Val1765=) c.5046G>T (p.Val1682=) c.4968G>T (p.Val1656=) c.4944G>T (p.Val1648=) | |
| 14 | g.74500923C>G | CA487155730 | LTBP2 | c.5427G>C (p.Val1809=) c.*206G>C (n.*206G>C) n.645G>C c.5295G>C (p.Val1765=) c.5046G>C (p.Val1682=) c.4968G>C (p.Val1656=) c.4944G>C (p.Val1648=) | |
| 14 | g.74500923C>T | CA487155731 | LTBP2 | c.5427G>A (p.Val1809=) c.*206G>A (n.*206G>A) n.645G>A c.5295G>A (p.Val1765=) c.5046G>A (p.Val1682=) c.4968G>A (p.Val1656=) c.4944G>A (p.Val1648=) | |
| 14 | g.74500924A= | CA2147073434 | LTBP2 | c.5426T= (p.Val1809=) c.*205T= (n.*205T=) n.644T= c.5294T= (p.Val1765=) c.5045T= (p.Val1682=) c.4967T= (p.Val1656=) c.4943T= (p.Val1648=) | |
| 14 | g.74500924A>C | CA390381864 | LTBP2 | c.5426T>G (p.Val1809Gly) c.*205T>G (n.*205T>G) n.644T>G c.5294T>G (p.Val1765Gly) c.5045T>G (p.Val1682Gly) c.4967T>G (p.Val1656Gly) c.4943T>G (p.Val1648Gly) | |
| 14 | g.74500924A>G | CA7268404 | LTBP2 | c.5426T>C (p.Val1809Ala) c.*205T>C (n.*205T>C) n.644T>C c.5294T>C (p.Val1765Ala) c.5045T>C (p.Val1682Ala) c.4967T>C (p.Val1656Ala) c.4943T>C (p.Val1648Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500924A>T | CA390381865 | LTBP2 | c.5426T>A (p.Val1809Glu) c.*205T>A (n.*205T>A) n.644T>A c.5294T>A (p.Val1765Glu) c.5045T>A (p.Val1682Glu) c.4967T>A (p.Val1656Glu) c.4943T>A (p.Val1648Glu) | |
| 14 | g.74500925C>A | CA390381866 | LTBP2 | c.5425G>T (p.Val1809Leu) c.*204G>T (n.*204G>T) n.643G>T c.5293G>T (p.Val1765Leu) c.5044G>T (p.Val1682Leu) c.4966G>T (p.Val1656Leu) c.4942G>T (p.Val1648Leu) | |
| 14 | g.74500925C>G | CA390381867 | LTBP2 | c.5425G>C (p.Val1809Leu) c.*204G>C (n.*204G>C) n.643G>C c.5293G>C (p.Val1765Leu) c.5044G>C (p.Val1682Leu) c.4966G>C (p.Val1656Leu) c.4942G>C (p.Val1648Leu) | |
| 14 | g.74500925C>T | CA390381868 | LTBP2 | c.5425G>A (p.Val1809Met) c.*204G>A (n.*204G>A) n.643G>A c.5293G>A (p.Val1765Met) c.5044G>A (p.Val1682Met) c.4966G>A (p.Val1656Met) c.4942G>A (p.Val1648Met) | |
| 14 | g.74500926A= | CA2147073435 | LTBP2 | c.5424T= (p.Tyr1808=) c.*203T= (n.*203T=) n.642T= c.5292T= (p.Tyr1764=) c.5043T= (p.Tyr1681=) c.4965T= (p.Tyr1655=) c.4941T= (p.Tyr1647=) | |
| 14 | g.74500926A>C | CA390381869 | LTBP2 | c.5424T>G (p.Tyr1808Ter) c.*203T>G (n.*203T>G) n.642T>G c.5292T>G (p.Tyr1764Ter) c.5043T>G (p.Tyr1681Ter) c.4965T>G (p.Tyr1655Ter) c.4941T>G (p.Tyr1647Ter) | |
| 14 | g.74500926A>G | CA7268405 | LTBP2 | c.5424T>C (p.Tyr1808=) c.*203T>C (n.*203T>C) n.642T>C c.5292T>C (p.Tyr1764=) c.5043T>C (p.Tyr1681=) c.4965T>C (p.Tyr1655=) c.4941T>C (p.Tyr1647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500926A>T | CA390381870 | LTBP2 | c.5424T>A (p.Tyr1808Ter) c.*203T>A (n.*203T>A) n.642T>A c.5292T>A (p.Tyr1764Ter) c.5043T>A (p.Tyr1681Ter) c.4965T>A (p.Tyr1655Ter) c.4941T>A (p.Tyr1647Ter) | |
| 14 | g.74500927T>A | CA390381871 | LTBP2 | c.5423A>T (p.Tyr1808Phe) c.*202A>T (n.*202A>T) n.641A>T c.5291A>T (p.Tyr1764Phe) c.5042A>T (p.Tyr1681Phe) c.4964A>T (p.Tyr1655Phe) c.4940A>T (p.Tyr1647Phe) | |
| 14 | g.74500927T>C | CA390381872 | LTBP2 | c.5423A>G (p.Tyr1808Cys) c.*202A>G (n.*202A>G) n.641A>G c.5291A>G (p.Tyr1764Cys) c.5042A>G (p.Tyr1681Cys) c.4964A>G (p.Tyr1655Cys) c.4940A>G (p.Tyr1647Cys) | |
| 14 | g.74500927T>G | CA390381873 | LTBP2 | c.5423A>C (p.Tyr1808Ser) c.*202A>C (n.*202A>C) n.641A>C c.5291A>C (p.Tyr1764Ser) c.5042A>C (p.Tyr1681Ser) c.4964A>C (p.Tyr1655Ser) c.4940A>C (p.Tyr1647Ser) | |
| 14 | g.74500928A>C | CA390381876 | LTBP2 | c.5422T>G (p.Tyr1808Asp) c.*201T>G (n.*201T>G) n.640T>G c.5290T>G (p.Tyr1764Asp) c.5041T>G (p.Tyr1681Asp) c.4963T>G (p.Tyr1655Asp) c.4939T>G (p.Tyr1647Asp) | |
| 14 | g.74500928A>G | CA390381874 | LTBP2 | c.5422T>C (p.Tyr1808His) c.*201T>C (n.*201T>C) n.640T>C c.5290T>C (p.Tyr1764His) c.5041T>C (p.Tyr1681His) c.4963T>C (p.Tyr1655His) c.4939T>C (p.Tyr1647His) | |
| 14 | g.74500928A>T | CA390381875 | LTBP2 | c.5422T>A (p.Tyr1808Asn) c.*201T>A (n.*201T>A) n.640T>A c.5290T>A (p.Tyr1764Asn) c.5041T>A (p.Tyr1681Asn) c.4963T>A (p.Tyr1655Asn) c.4939T>A (p.Tyr1647Asn) | |
| 14 | g.74500929T>A | CA487155734 | LTBP2 | c.5421A>T (p.Gly1807=) c.*200A>T (n.*200A>T) n.639A>T c.5289A>T (p.Gly1763=) c.5040A>T (p.Gly1680=) c.4962A>T (p.Gly1654=) c.4938A>T (p.Gly1646=) | |
| 14 | g.74500929T>C | CA487155732 | LTBP2 | c.5421A>G (p.Gly1807=) c.*200A>G (n.*200A>G) n.639A>G c.5289A>G (p.Gly1763=) c.5040A>G (p.Gly1680=) c.4962A>G (p.Gly1654=) c.4938A>G (p.Gly1646=) | |
| 14 | g.74500929T>G | CA487155733 | LTBP2 | c.5421A>C (p.Gly1807=) c.*200A>C (n.*200A>C) n.639A>C c.5289A>C (p.Gly1763=) c.5040A>C (p.Gly1680=) c.4962A>C (p.Gly1654=) c.4938A>C (p.Gly1646=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500929T= | CA2147073436 | LTBP2 | c.5421A= (p.Gly1807=) c.*200A= (n.*200A=) n.639A= c.5289A= (p.Gly1763=) c.5040A= (p.Gly1680=) c.4962A= (p.Gly1654=) c.4938A= (p.Gly1646=) | |
| 14 | g.74500930C>A | CA390381877 | LTBP2 | c.5420G>T (p.Gly1807Val) c.*199G>T (n.*199G>T) n.638G>T c.5288G>T (p.Gly1763Val) c.5039G>T (p.Gly1680Val) c.4961G>T (p.Gly1654Val) c.4937G>T (p.Gly1646Val) | |
| 14 | g.74500930C>G | CA390381878 | LTBP2 | c.5420G>C (p.Gly1807Ala) c.*199G>C (n.*199G>C) n.638G>C c.5288G>C (p.Gly1763Ala) c.5039G>C (p.Gly1680Ala) c.4961G>C (p.Gly1654Ala) c.4937G>C (p.Gly1646Ala) | |
| 14 | g.74500930C>T | CA390381879 | LTBP2 | c.5420G>A (p.Gly1807Glu) c.*199G>A (n.*199G>A) n.638G>A c.5288G>A (p.Gly1763Glu) c.5039G>A (p.Gly1680Glu) c.4961G>A (p.Gly1654Glu) c.4937G>A (p.Gly1646Glu) | |
| 14 | g.74500932dup | CA708513002 | LTBP2 | c.5420dup (p.Tyr1808IlefsTer4) c.*199dup (n.*199dup) n.638dup c.5288dup (p.Tyr1764IlefsTer4) c.5039dup (p.Tyr1681IlefsTer4) c.4961dup (p.Tyr1655IlefsTer4) c.4937dup (p.Tyr1647IlefsTer4) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500931C>A | CA390381880 | LTBP2 | c.5419G>T (p.Gly1807Ter) c.*198G>T (n.*198G>T) n.637G>T c.5287G>T (p.Gly1763Ter) c.5038G>T (p.Gly1680Ter) c.4960G>T (p.Gly1654Ter) c.4936G>T (p.Gly1646Ter) | |
| 14 | g.74500931C>G | CA390381881 | LTBP2 | c.5419G>C (p.Gly1807Arg) c.*198G>C (n.*198G>C) n.637G>C c.5287G>C (p.Gly1763Arg) c.5038G>C (p.Gly1680Arg) c.4960G>C (p.Gly1654Arg) c.4936G>C (p.Gly1646Arg) | |
| 14 | g.74500931C>T | CA390381882 | LTBP2 | c.5419G>A (p.Gly1807Arg) c.*198G>A (n.*198G>A) n.637G>A c.5287G>A (p.Gly1763Arg) c.5038G>A (p.Gly1680Arg) c.4960G>A (p.Gly1654Arg) c.4936G>A (p.Gly1646Arg) | gnomAD v4 |
| 14 | g.74500932C>A | CA487155735 | LTBP2 | c.5418G>T (p.Pro1806=) c.*197G>T (n.*197G>T) n.636G>T c.5286G>T (p.Pro1762=) c.5037G>T (p.Pro1679=) c.4959G>T (p.Pro1653=) c.4935G>T (p.Pro1645=) | |
| 14 | g.74500932C= | CA2147073437 | LTBP2 | c.5418G= (p.Pro1806=) c.*197G= (n.*197G=) n.636G= c.5286G= (p.Pro1762=) c.5037G= (p.Pro1679=) c.4959G= (p.Pro1653=) c.4935G= (p.Pro1645=) | |
| 14 | g.74500932C>G | CA7268406 | LTBP2 | c.5418G>C (p.Pro1806=) c.*197G>C (n.*197G>C) n.636G>C c.5286G>C (p.Pro1762=) c.5037G>C (p.Pro1679=) c.4959G>C (p.Pro1653=) c.4935G>C (p.Pro1645=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500932C>T | CA7268407 | LTBP2 | c.5418G>A (p.Pro1806=) c.*197G>A (n.*197G>A) n.636G>A c.5286G>A (p.Pro1762=) c.5037G>A (p.Pro1679=) c.4959G>A (p.Pro1653=) c.4935G>A (p.Pro1645=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500933G>A | CA7268408 | LTBP2 | c.5417C>T (p.Pro1806Leu) c.*196C>T (n.*196C>T) n.635C>T c.5285C>T (p.Pro1762Leu) c.5036C>T (p.Pro1679Leu) c.4958C>T (p.Pro1653Leu) c.4934C>T (p.Pro1645Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500933G>C | CA390381883 | LTBP2 | c.5417C>G (p.Pro1806Arg) c.*196C>G (n.*196C>G) n.635C>G c.5285C>G (p.Pro1762Arg) c.5036C>G (p.Pro1679Arg) c.4958C>G (p.Pro1653Arg) c.4934C>G (p.Pro1645Arg) | |
| 14 | g.74500933G= | CA2147073438 | LTBP2 | c.5417C= (p.Pro1806=) c.*196C= (n.*196C=) n.635C= c.5285C= (p.Pro1762=) c.5036C= (p.Pro1679=) c.4958C= (p.Pro1653=) c.4934C= (p.Pro1645=) | |
| 14 | g.74500933G>T | CA390381884 | LTBP2 | c.5417C>A (p.Pro1806Gln) c.*196C>A (n.*196C>A) n.635C>A c.5285C>A (p.Pro1762Gln) c.5036C>A (p.Pro1679Gln) c.4958C>A (p.Pro1653Gln) c.4934C>A (p.Pro1645Gln) | |
| 14 | g.74500934G>A | CA390381886 | LTBP2 | c.5416C>T (p.Pro1806Ser) c.*195C>T (n.*195C>T) n.634C>T c.5284C>T (p.Pro1762Ser) c.5035C>T (p.Pro1679Ser) c.4957C>T (p.Pro1653Ser) c.4933C>T (p.Pro1645Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500934G>C | CA390381887 | LTBP2 | c.5416C>G (p.Pro1806Ala) c.*195C>G (n.*195C>G) n.634C>G c.5284C>G (p.Pro1762Ala) c.5035C>G (p.Pro1679Ala) c.4957C>G (p.Pro1653Ala) c.4933C>G (p.Pro1645Ala) | |
| 14 | g.74500934G= | CA2147073439 | LTBP2 | c.5416C= (p.Pro1806=) c.*195C= (n.*195C=) n.634C= c.5284C= (p.Pro1762=) c.5035C= (p.Pro1679=) c.4957C= (p.Pro1653=) c.4933C= (p.Pro1645=) | |
| 14 | g.74500934G>T | CA390381885 | LTBP2 | c.5416C>A (p.Pro1806Thr) c.*195C>A (n.*195C>A) n.634C>A c.5284C>A (p.Pro1762Thr) c.5035C>A (p.Pro1679Thr) c.4957C>A (p.Pro1653Thr) c.4933C>A (p.Pro1645Thr) | gnomAD v4 |
| 14 | g.74500935G>A | CA487155736 | LTBP2 | c.5415C>T (p.Ser1805=) c.*194C>T (n.*194C>T) n.633C>T c.5283C>T (p.Ser1761=) c.5034C>T (p.Ser1678=) c.4956C>T (p.Ser1652=) c.4932C>T (p.Ser1644=) | |
| 14 | g.74500935G>C | CA487155738 | LTBP2 | c.5415C>G (p.Ser1805=) c.*194C>G (n.*194C>G) n.633C>G c.5283C>G (p.Ser1761=) c.5034C>G (p.Ser1678=) c.4956C>G (p.Ser1652=) c.4932C>G (p.Ser1644=) | |
| 14 | g.74500935G>T | CA487155737 | LTBP2 | c.5415C>A (p.Ser1805=) c.*194C>A (n.*194C>A) n.633C>A c.5283C>A (p.Ser1761=) c.5034C>A (p.Ser1678=) c.4956C>A (p.Ser1652=) c.4932C>A (p.Ser1644=) | |
| 14 | g.74500936G>A | CA390381888 | LTBP2 | c.5414C>T (p.Ser1805Phe) c.*193C>T (n.*193C>T) n.632C>T c.5282C>T (p.Ser1761Phe) c.5033C>T (p.Ser1678Phe) c.4955C>T (p.Ser1652Phe) c.4931C>T (p.Ser1644Phe) | dbSNP |
| 14 | g.74500936G>C | CA390381889 | LTBP2 | c.5414C>G (p.Ser1805Cys) c.*193C>G (n.*193C>G) n.632C>G c.5282C>G (p.Ser1761Cys) c.5033C>G (p.Ser1678Cys) c.4955C>G (p.Ser1652Cys) c.4931C>G (p.Ser1644Cys) | |
| 14 | g.74500936G= | CA2147073440 | LTBP2 | c.5414C= (p.Ser1805=) c.*193C= (n.*193C=) n.632C= c.5282C= (p.Ser1761=) c.5033C= (p.Ser1678=) c.4955C= (p.Ser1652=) c.4931C= (p.Ser1644=) | |
| 14 | g.74500936G>T | CA390381890 | LTBP2 | c.5414C>A (p.Ser1805Tyr) c.*193C>A (n.*193C>A) n.632C>A c.5282C>A (p.Ser1761Tyr) c.5033C>A (p.Ser1678Tyr) c.4955C>A (p.Ser1652Tyr) c.4931C>A (p.Ser1644Tyr) | |
| 14 | g.74500937A>C | CA390381891 | LTBP2 | c.5413T>G (p.Ser1805Ala) c.*192T>G (n.*192T>G) n.631T>G c.5281T>G (p.Ser1761Ala) c.5032T>G (p.Ser1678Ala) c.4954T>G (p.Ser1652Ala) c.4930T>G (p.Ser1644Ala) | |
| 14 | g.74500937A>G | CA390381892 | LTBP2 | c.5413T>C (p.Ser1805Pro) c.*192T>C (n.*192T>C) n.631T>C c.5281T>C (p.Ser1761Pro) c.5032T>C (p.Ser1678Pro) c.4954T>C (p.Ser1652Pro) c.4930T>C (p.Ser1644Pro) | |
| 14 | g.74500937A>T | CA390381893 | LTBP2 | c.5413T>A (p.Ser1805Thr) c.*192T>A (n.*192T>A) n.631T>A c.5281T>A (p.Ser1761Thr) c.5032T>A (p.Ser1678Thr) c.4954T>A (p.Ser1652Thr) c.4930T>A (p.Ser1644Thr) | |
| 14 | g.74500938G>A | CA487155739 | LTBP2 | c.5412C>T (p.Cys1804=) c.*191C>T (n.*191C>T) n.630C>T c.5280C>T (p.Cys1760=) c.5031C>T (p.Cys1677=) c.4953C>T (p.Cys1651=) c.4929C>T (p.Cys1643=) | dbSNP |
| 14 | g.74500938G>C | CA390381894 | LTBP2 | c.5412C>G (p.Cys1804Trp) c.*191C>G (n.*191C>G) n.630C>G c.5280C>G (p.Cys1760Trp) c.5031C>G (p.Cys1677Trp) c.4953C>G (p.Cys1651Trp) c.4929C>G (p.Cys1643Trp) | |
| 14 | g.74500938G= | CA2147073441 | LTBP2 | c.5412C= (p.Cys1804=) c.*191C= (n.*191C=) n.630C= c.5280C= (p.Cys1760=) c.5031C= (p.Cys1677=) c.4953C= (p.Cys1651=) c.4929C= (p.Cys1643=) | |
| 14 | g.74500938G>T | CA390381895 | LTBP2 | c.5412C>A (p.Cys1804Ter) c.*191C>A (n.*191C>A) n.630C>A c.5280C>A (p.Cys1760Ter) c.5031C>A (p.Cys1677Ter) c.4953C>A (p.Cys1651Ter) c.4929C>A (p.Cys1643Ter) | |
| 14 | g.74500939C>A | CA390381896 | LTBP2 | c.5411G>T (p.Cys1804Phe) c.*190G>T (n.*190G>T) n.629G>T c.5279G>T (p.Cys1760Phe) c.5030G>T (p.Cys1677Phe) c.4952G>T (p.Cys1651Phe) c.4928G>T (p.Cys1643Phe) | |
| 14 | g.74500939C>G | CA390381897 | LTBP2 | c.5411G>C (p.Cys1804Ser) c.*190G>C (n.*190G>C) n.629G>C c.5279G>C (p.Cys1760Ser) c.5030G>C (p.Cys1677Ser) c.4952G>C (p.Cys1651Ser) c.4928G>C (p.Cys1643Ser) | |
| 14 | g.74500939C>T | CA390381898 | LTBP2 | c.5411G>A (p.Cys1804Tyr) c.*190G>A (n.*190G>A) n.629G>A c.5279G>A (p.Cys1760Tyr) c.5030G>A (p.Cys1677Tyr) c.4952G>A (p.Cys1651Tyr) c.4928G>A (p.Cys1643Tyr) | |
| 14 | g.74500940A= | CA2147073442 | LTBP2 | c.5410T= (p.Cys1804=) c.*189T= (n.*189T=) n.628T= c.5278T= (p.Cys1760=) c.5029T= (p.Cys1677=) c.4951T= (p.Cys1651=) c.4927T= (p.Cys1643=) | |
| 14 | g.74500940A>C | CA390381899 | LTBP2 | c.5410T>G (p.Cys1804Gly) c.*189T>G (n.*189T>G) n.628T>G c.5278T>G (p.Cys1760Gly) c.5029T>G (p.Cys1677Gly) c.4951T>G (p.Cys1651Gly) c.4927T>G (p.Cys1643Gly) | gnomAD v4 |
| 14 | g.74500940A>G | CA7268409 | LTBP2 | c.5410T>C (p.Cys1804Arg) c.*189T>C (n.*189T>C) n.628T>C c.5278T>C (p.Cys1760Arg) c.5029T>C (p.Cys1677Arg) c.4951T>C (p.Cys1651Arg) c.4927T>C (p.Cys1643Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500940A>T | CA390381900 | LTBP2 | c.5410T>A (p.Cys1804Ser) c.*189T>A (n.*189T>A) n.628T>A c.5278T>A (p.Cys1760Ser) c.5029T>A (p.Cys1677Ser) c.4951T>A (p.Cys1651Ser) c.4927T>A (p.Cys1643Ser) | |
| 14 | g.74500941G>A | CA487155740 | LTBP2 | c.5409C>T (p.His1803=) c.*188C>T (n.*188C>T) n.627C>T c.5277C>T (p.His1759=) c.5028C>T (p.His1676=) c.4950C>T (p.His1650=) c.4926C>T (p.His1642=) | |
| 14 | g.74500941G>C | CA390381902 | LTBP2 | c.5409C>G (p.His1803Gln) c.*188C>G (n.*188C>G) n.627C>G c.5277C>G (p.His1759Gln) c.5028C>G (p.His1676Gln) c.4950C>G (p.His1650Gln) c.4926C>G (p.His1642Gln) | |
| 14 | g.74500941G>T | CA390381901 | LTBP2 | c.5409C>A (p.His1803Gln) c.*188C>A (n.*188C>A) n.627C>A c.5277C>A (p.His1759Gln) c.5028C>A (p.His1676Gln) c.4950C>A (p.His1650Gln) c.4926C>A (p.His1642Gln) | |
| 14 | g.74500942T>A | CA390381905 | LTBP2 | c.5408A>T (p.His1803Leu) c.*187A>T (n.*187A>T) n.626A>T c.5276A>T (p.His1759Leu) c.5027A>T (p.His1676Leu) c.4949A>T (p.His1650Leu) c.4925A>T (p.His1642Leu) | |
| 14 | g.74500942T>C | CA390381907 | LTBP2 | c.5408A>G (p.His1803Arg) c.*187A>G (n.*187A>G) n.626A>G c.5276A>G (p.His1759Arg) c.5027A>G (p.His1676Arg) c.4949A>G (p.His1650Arg) c.4925A>G (p.His1642Arg) | |
| 14 | g.74500942T>G | CA390381908 | LTBP2 | c.5408A>C (p.His1803Pro) c.*187A>C (n.*187A>C) n.626A>C c.5276A>C (p.His1759Pro) c.5027A>C (p.His1676Pro) c.4949A>C (p.His1650Pro) c.4925A>C (p.His1642Pro) | |
| 14 | g.74500943G>A | CA390381910 | LTBP2 | c.5407C>T (p.His1803Tyr) c.*186C>T (n.*186C>T) n.625C>T c.5275C>T (p.His1759Tyr) c.5026C>T (p.His1676Tyr) c.4948C>T (p.His1650Tyr) c.4924C>T (p.His1642Tyr) | gnomAD v4 |
| 14 | g.74500943G>C | CA390381912 | LTBP2 | c.5407C>G (p.His1803Asp) c.*186C>G (n.*186C>G) n.625C>G c.5275C>G (p.His1759Asp) c.5026C>G (p.His1676Asp) c.4948C>G (p.His1650Asp) c.4924C>G (p.His1642Asp) | |
| 14 | g.74500943G>T | CA390381914 | LTBP2 | c.5407C>A (p.His1803Asn) c.*186C>A (n.*186C>A) n.625C>A c.5275C>A (p.His1759Asn) c.5026C>A (p.His1676Asn) c.4948C>A (p.His1650Asn) c.4924C>A (p.His1642Asn) | |
| 14 | g.74500944G>A | CA487155742 | LTBP2 | c.5406C>T (p.Cys1802=) c.*185C>T (n.*185C>T) n.624C>T c.5274C>T (p.Cys1758=) c.5025C>T (p.Cys1675=) c.4947C>T (p.Cys1649=) c.4923C>T (p.Cys1641=) | gnomAD v4 |
| 14 | g.74500944G>C | CA390381918 | LTBP2 | c.5406C>G (p.Cys1802Trp) c.*185C>G (n.*185C>G) n.624C>G c.5274C>G (p.Cys1758Trp) c.5025C>G (p.Cys1675Trp) c.4947C>G (p.Cys1649Trp) c.4923C>G (p.Cys1641Trp) | |
| 14 | g.74500944G>T | CA390381916 | LTBP2 | c.5406C>A (p.Cys1802Ter) c.*185C>A (n.*185C>A) n.624C>A c.5274C>A (p.Cys1758Ter) c.5025C>A (p.Cys1675Ter) c.4947C>A (p.Cys1649Ter) c.4923C>A (p.Cys1641Ter) | |
| 14 | g.74500945C>A | CA390381920 | LTBP2 | c.5405G>T (p.Cys1802Phe) c.*184G>T (n.*184G>T) n.623G>T c.5273G>T (p.Cys1758Phe) c.5024G>T (p.Cys1675Phe) c.4946G>T (p.Cys1649Phe) c.4922G>T (p.Cys1641Phe) | |
| 14 | g.74500945C= | CA2147073443 | LTBP2 | c.5405G= (p.Cys1802=) c.*184G= (n.*184G=) n.623G= c.5273G= (p.Cys1758=) c.5024G= (p.Cys1675=) c.4946G= (p.Cys1649=) c.4922G= (p.Cys1641=) | |
| 14 | g.74500945C>G | CA390381922 | LTBP2 | c.5405G>C (p.Cys1802Ser) c.*184G>C (n.*184G>C) n.623G>C c.5273G>C (p.Cys1758Ser) c.5024G>C (p.Cys1675Ser) c.4946G>C (p.Cys1649Ser) c.4922G>C (p.Cys1641Ser) | |
| 14 | g.74500945C>T | CA7268410 | LTBP2 | c.5405G>A (p.Cys1802Tyr) c.*184G>A (n.*184G>A) n.623G>A c.5273G>A (p.Cys1758Tyr) c.5024G>A (p.Cys1675Tyr) c.4946G>A (p.Cys1649Tyr) c.4922G>A (p.Cys1641Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500946A>C | CA390381925 | LTBP2 | c.5404T>G (p.Cys1802Gly) c.*183T>G (n.*183T>G) n.622T>G c.5272T>G (p.Cys1758Gly) c.5023T>G (p.Cys1675Gly) c.4945T>G (p.Cys1649Gly) c.4921T>G (p.Cys1641Gly) | |
| 14 | g.74500946A>G | CA390381927 | LTBP2 | c.5404T>C (p.Cys1802Arg) c.*183T>C (n.*183T>C) n.622T>C c.5272T>C (p.Cys1758Arg) c.5023T>C (p.Cys1675Arg) c.4945T>C (p.Cys1649Arg) c.4921T>C (p.Cys1641Arg) | |
| 14 | g.74500946A>T | CA390381929 | LTBP2 | c.5404T>A (p.Cys1802Ser) c.*183T>A (n.*183T>A) n.622T>A c.5272T>A (p.Cys1758Ser) c.5023T>A (p.Cys1675Ser) c.4945T>A (p.Cys1649Ser) c.4921T>A (p.Cys1641Ser) | |
| 14 | g.74500947G>A | CA487155743 | LTBP2 | c.5403C>T (p.Arg1801=) c.*182C>T (n.*182C>T) n.621C>T c.5271C>T (p.Arg1757=) c.5022C>T (p.Arg1674=) c.4944C>T (p.Arg1648=) c.4920C>T (p.Arg1640=) | |
| 14 | g.74500947G>C | CA487155744 | LTBP2 | c.5403C>G (p.Arg1801=) c.*182C>G (n.*182C>G) n.621C>G c.5271C>G (p.Arg1757=) c.5022C>G (p.Arg1674=) c.4944C>G (p.Arg1648=) c.4920C>G (p.Arg1640=) | |
| 14 | g.74500947G>T | CA487155745 | LTBP2 | c.5403C>A (p.Arg1801=) c.*182C>A (n.*182C>A) n.621C>A c.5271C>A (p.Arg1757=) c.5022C>A (p.Arg1674=) c.4944C>A (p.Arg1648=) c.4920C>A (p.Arg1640=) | |
| 14 | g.74500948C>A | CA390381930 | LTBP2 | c.5402G>T (p.Arg1801Leu) c.*181G>T (n.*181G>T) n.620G>T c.5270G>T (p.Arg1757Leu) c.5021G>T (p.Arg1674Leu) c.4943G>T (p.Arg1648Leu) c.4919G>T (p.Arg1640Leu) | |
| 14 | g.74500948C= | CA2147073444 | LTBP2 | c.5402G= (p.Arg1801=) c.*181G= (n.*181G=) n.620G= c.5270G= (p.Arg1757=) c.5021G= (p.Arg1674=) c.4943G= (p.Arg1648=) c.4919G= (p.Arg1640=) | |
| 14 | g.74500948C>G | CA390381933 | LTBP2 | c.5402G>C (p.Arg1801Pro) c.*181G>C (n.*181G>C) n.620G>C c.5270G>C (p.Arg1757Pro) c.5021G>C (p.Arg1674Pro) c.4943G>C (p.Arg1648Pro) c.4919G>C (p.Arg1640Pro) | dbSNP |
| 14 | g.74500948C>T | CA7268411 | LTBP2 | c.5402G>A (p.Arg1801His) c.*181G>A (n.*181G>A) n.620G>A c.5270G>A (p.Arg1757His) c.5021G>A (p.Arg1674His) c.4943G>A (p.Arg1648His) c.4919G>A (p.Arg1640His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500949G>A | CA390381935 | LTBP2 | c.5401C>T (p.Arg1801Cys) c.*180C>T (n.*180C>T) n.619C>T c.5269C>T (p.Arg1757Cys) c.5020C>T (p.Arg1674Cys) c.4942C>T (p.Arg1648Cys) c.4918C>T (p.Arg1640Cys) | dbSNP gnomAD v4 COSMIC |
| 14 | g.74500949G>C | CA7268412 | LTBP2 | c.5401C>G (p.Arg1801Gly) c.*180C>G (n.*180C>G) n.619C>G c.5269C>G (p.Arg1757Gly) c.5020C>G (p.Arg1674Gly) c.4942C>G (p.Arg1648Gly) c.4918C>G (p.Arg1640Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500949G= | CA2147073445 | LTBP2 | c.5401C= (p.Arg1801=) c.*180C= (n.*180C=) n.619C= c.5269C= (p.Arg1757=) c.5020C= (p.Arg1674=) c.4942C= (p.Arg1648=) c.4918C= (p.Arg1640=) | |
| 14 | g.74500949G>T | CA390381936 | LTBP2 | c.5401C>A (p.Arg1801Ser) c.*180C>A (n.*180C>A) n.619C>A c.5269C>A (p.Arg1757Ser) c.5020C>A (p.Arg1674Ser) c.4942C>A (p.Arg1648Ser) c.4918C>A (p.Arg1640Ser) | dbSNP COSMIC |
| 14 | g.74500950G>A | CA487155746 | LTBP2 | c.5400C>T (p.Tyr1800=) c.*179C>T (n.*179C>T) n.618C>T c.5268C>T (p.Tyr1756=) c.5019C>T (p.Tyr1673=) c.4941C>T (p.Tyr1647=) c.4917C>T (p.Tyr1639=) | |
| 14 | g.74500950G>C | CA390381938 | LTBP2 | c.5400C>G (p.Tyr1800Ter) c.*179C>G (n.*179C>G) n.618C>G c.5268C>G (p.Tyr1756Ter) c.5019C>G (p.Tyr1673Ter) c.4941C>G (p.Tyr1647Ter) c.4917C>G (p.Tyr1639Ter) | |
| 14 | g.74500950G>T | CA390381940 | LTBP2 | c.5400C>A (p.Tyr1800Ter) c.*179C>A (n.*179C>A) n.618C>A c.5268C>A (p.Tyr1756Ter) c.5019C>A (p.Tyr1673Ter) c.4941C>A (p.Tyr1647Ter) c.4917C>A (p.Tyr1639Ter) | |
| 14 | g.74500951T>A | CA390381947 | LTBP2 | c.5399A>T (p.Tyr1800Phe) c.*178A>T (n.*178A>T) n.617A>T c.5267A>T (p.Tyr1756Phe) c.5018A>T (p.Tyr1673Phe) c.4940A>T (p.Tyr1647Phe) c.4916A>T (p.Tyr1639Phe) | |
| 14 | g.74500951T>C | CA390381945 | LTBP2 | c.5399A>G (p.Tyr1800Cys) c.*178A>G (n.*178A>G) n.617A>G c.5267A>G (p.Tyr1756Cys) c.5018A>G (p.Tyr1673Cys) c.4940A>G (p.Tyr1647Cys) c.4916A>G (p.Tyr1639Cys) | |
| 14 | g.74500951T>G | CA390381942 | LTBP2 | c.5399A>C (p.Tyr1800Ser) c.*178A>C (n.*178A>C) n.617A>C c.5267A>C (p.Tyr1756Ser) c.5018A>C (p.Tyr1673Ser) c.4940A>C (p.Tyr1647Ser) c.4916A>C (p.Tyr1639Ser) | dbSNP |
| 14 | g.74500951T= | CA2147073446 | LTBP2 | c.5399A= (p.Tyr1800=) c.*178A= (n.*178A=) n.617A= c.5267A= (p.Tyr1756=) c.5018A= (p.Tyr1673=) c.4940A= (p.Tyr1647=) c.4916A= (p.Tyr1639=) | |
| 14 | g.74500952A>C | CA390381950 | LTBP2 | c.5398T>G (p.Tyr1800Asp) c.*177T>G (n.*177T>G) n.616T>G c.5266T>G (p.Tyr1756Asp) c.5017T>G (p.Tyr1673Asp) c.4939T>G (p.Tyr1647Asp) c.4915T>G (p.Tyr1639Asp) | |
| 14 | g.74500952A>G | CA390381953 | LTBP2 | c.5398T>C (p.Tyr1800His) c.*177T>C (n.*177T>C) n.616T>C c.5266T>C (p.Tyr1756His) c.5017T>C (p.Tyr1673His) c.4939T>C (p.Tyr1647His) c.4915T>C (p.Tyr1639His) | |
| 14 | g.74500952A>T | CA390381955 | LTBP2 | c.5398T>A (p.Tyr1800Asn) c.*177T>A (n.*177T>A) n.616T>A c.5266T>A (p.Tyr1756Asn) c.5017T>A (p.Tyr1673Asn) c.4939T>A (p.Tyr1647Asn) c.4915T>A (p.Tyr1639Asn) | |
| 14 | g.74500953G>A | CA487155748 | LTBP2 | c.5397C>T (p.Ser1799=) c.*176C>T (n.*176C>T) n.615C>T c.5265C>T (p.Ser1755=) c.5016C>T (p.Ser1672=) c.4938C>T (p.Ser1646=) c.4914C>T (p.Ser1638=) | dbSNP gnomAD v2 |
| 14 | g.74500953G>C | CA487155749 | LTBP2 | c.5397C>G (p.Ser1799=) c.*176C>G (n.*176C>G) n.615C>G c.5265C>G (p.Ser1755=) c.5016C>G (p.Ser1672=) c.4938C>G (p.Ser1646=) c.4914C>G (p.Ser1638=) | |
| 14 | g.74500953G= | CA2147073447 | LTBP2 | c.5397C= (p.Ser1799=) c.*176C= (n.*176C=) n.615C= c.5265C= (p.Ser1755=) c.5016C= (p.Ser1672=) c.4938C= (p.Ser1646=) c.4914C= (p.Ser1638=) | |
| 14 | g.74500953G>T | CA487155750 | LTBP2 | c.5397C>A (p.Ser1799=) c.*176C>A (n.*176C>A) n.615C>A c.5265C>A (p.Ser1755=) c.5016C>A (p.Ser1672=) c.4938C>A (p.Ser1646=) c.4914C>A (p.Ser1638=) | |
| 14 | g.74500954G>A | CA390381957 | LTBP2 | c.5396C>T (p.Ser1799Phe) c.*175C>T (n.*175C>T) n.614C>T c.5264C>T (p.Ser1755Phe) c.5015C>T (p.Ser1672Phe) c.4937C>T (p.Ser1646Phe) c.4913C>T (p.Ser1638Phe) | dbSNP gnomAD v2 |
| 14 | g.74500954G>C | CA390381959 | LTBP2 | c.5396C>G (p.Ser1799Cys) c.*175C>G (n.*175C>G) n.614C>G c.5264C>G (p.Ser1755Cys) c.5015C>G (p.Ser1672Cys) c.4937C>G (p.Ser1646Cys) c.4913C>G (p.Ser1638Cys) | |
| 14 | g.74500954G= | CA2147073448 | LTBP2 | c.5396C= (p.Ser1799=) c.*175C= (n.*175C=) n.614C= c.5264C= (p.Ser1755=) c.5015C= (p.Ser1672=) c.4937C= (p.Ser1646=) c.4913C= (p.Ser1638=) | |
| 14 | g.74500954G>T | CA390381961 | LTBP2 | c.5396C>A (p.Ser1799Tyr) c.*175C>A (n.*175C>A) n.614C>A c.5264C>A (p.Ser1755Tyr) c.5015C>A (p.Ser1672Tyr) c.4937C>A (p.Ser1646Tyr) c.4913C>A (p.Ser1638Tyr) | |
| 14 | g.74500955A>C | CA390381963 | LTBP2 | c.5395T>G (p.Ser1799Ala) c.*174T>G (n.*174T>G) n.613T>G c.5263T>G (p.Ser1755Ala) c.5014T>G (p.Ser1672Ala) c.4936T>G (p.Ser1646Ala) c.4912T>G (p.Ser1638Ala) | |
| 14 | g.74500955A>G | CA390381967 | LTBP2 | c.5395T>C (p.Ser1799Pro) c.*174T>C (n.*174T>C) n.613T>C c.5263T>C (p.Ser1755Pro) c.5014T>C (p.Ser1672Pro) c.4936T>C (p.Ser1646Pro) c.4912T>C (p.Ser1638Pro) | |
| 14 | g.74500955A>T | CA390381965 | LTBP2 | c.5395T>A (p.Ser1799Thr) c.*174T>A (n.*174T>A) n.613T>A c.5263T>A (p.Ser1755Thr) c.5014T>A (p.Ser1672Thr) c.4936T>A (p.Ser1646Thr) c.4912T>A (p.Ser1638Thr) | |
| 14 | g.74500956G>A | CA487155751 | LTBP2 | c.5394C>T (p.Gly1798=) c.*173C>T (n.*173C>T) n.612C>T c.5262C>T (p.Gly1754=) c.5013C>T (p.Gly1671=) c.4935C>T (p.Gly1645=) c.4911C>T (p.Gly1637=) | |
| 14 | g.74500956G>C | CA487155752 | LTBP2 | c.5394C>G (p.Gly1798=) c.*173C>G (n.*173C>G) n.612C>G c.5262C>G (p.Gly1754=) c.5013C>G (p.Gly1671=) c.4935C>G (p.Gly1645=) c.4911C>G (p.Gly1637=) | |
| 14 | g.74500956G>T | CA487155753 | LTBP2 | c.5394C>A (p.Gly1798=) c.*173C>A (n.*173C>A) n.612C>A c.5262C>A (p.Gly1754=) c.5013C>A (p.Gly1671=) c.4935C>A (p.Gly1645=) c.4911C>A (p.Gly1637=) | |
| 14 | g.74500957C>A | CA390381968 | LTBP2 | c.5393G>T (p.Gly1798Val) c.*172G>T (n.*172G>T) n.611G>T c.5261G>T (p.Gly1754Val) c.5012G>T (p.Gly1671Val) c.4934G>T (p.Gly1645Val) c.4910G>T (p.Gly1637Val) | |
| 14 | g.74500957C= | CA2147073449 | LTBP2 | c.5393G= (p.Gly1798=) c.*172G= (n.*172G=) n.611G= c.5261G= (p.Gly1754=) c.5012G= (p.Gly1671=) c.4934G= (p.Gly1645=) c.4910G= (p.Gly1637=) | |
| 14 | g.74500957C>G | CA390381970 | LTBP2 | c.5393G>C (p.Gly1798Ala) c.*172G>C (n.*172G>C) n.611G>C c.5261G>C (p.Gly1754Ala) c.5012G>C (p.Gly1671Ala) c.4934G>C (p.Gly1645Ala) c.4910G>C (p.Gly1637Ala) | |
| 14 | g.74500957C>T | CA263577318 | LTBP2 | c.5393G>A (p.Gly1798Asp) c.*172G>A (n.*172G>A) n.611G>A c.5261G>A (p.Gly1754Asp) c.5012G>A (p.Gly1671Asp) c.4934G>A (p.Gly1645Asp) c.4910G>A (p.Gly1637Asp) | dbSNP gnomAD v4 |
| 14 | g.74500958C>A | CA390381972 | LTBP2 | c.5392G>T (p.Gly1798Cys) c.*171G>T (n.*171G>T) n.610G>T c.5260G>T (p.Gly1754Cys) c.5011G>T (p.Gly1671Cys) c.4933G>T (p.Gly1645Cys) c.4909G>T (p.Gly1637Cys) | |
| 14 | g.74500958C>G | CA390381974 | LTBP2 | c.5392G>C (p.Gly1798Arg) c.*171G>C (n.*171G>C) n.610G>C c.5260G>C (p.Gly1754Arg) c.5011G>C (p.Gly1671Arg) c.4933G>C (p.Gly1645Arg) c.4909G>C (p.Gly1637Arg) | |
| 14 | g.74500958C>T | CA390381976 | LTBP2 | c.5392G>A (p.Gly1798Ser) c.*171G>A (n.*171G>A) n.610G>A c.5260G>A (p.Gly1754Ser) c.5011G>A (p.Gly1671Ser) c.4933G>A (p.Gly1645Ser) c.4909G>A (p.Gly1637Ser) | |
| 14 | g.74500959C>A | CA390381977 | LTBP2 | c.5391G>T (p.Glu1797Asp) c.*170G>T (n.*170G>T) n.609G>T c.5259G>T (p.Glu1753Asp) c.5010G>T (p.Glu1670Asp) c.4932G>T (p.Glu1644Asp) c.4908G>T (p.Glu1636Asp) | |
| 14 | g.74500959C>G | CA390381978 | LTBP2 | c.5391G>C (p.Glu1797Asp) c.*170G>C (n.*170G>C) n.609G>C c.5259G>C (p.Glu1753Asp) c.5010G>C (p.Glu1670Asp) c.4932G>C (p.Glu1644Asp) c.4908G>C (p.Glu1636Asp) | |
| 14 | g.74500959C>T | CA487155754 | LTBP2 | c.5391G>A (p.Glu1797=) c.*170G>A (n.*170G>A) n.609G>A c.5259G>A (p.Glu1753=) c.5010G>A (p.Glu1670=) c.4932G>A (p.Glu1644=) c.4908G>A (p.Glu1636=) | |
| 14 | g.74500960T>A | CA390381979 | LTBP2 | c.5390A>T (p.Glu1797Val) c.*169A>T (n.*169A>T) n.608A>T c.5258A>T (p.Glu1753Val) c.5009A>T (p.Glu1670Val) c.4931A>T (p.Glu1644Val) c.4907A>T (p.Glu1636Val) | |
| 14 | g.74500960T>C | CA390381980 | LTBP2 | c.5390A>G (p.Glu1797Gly) c.*169A>G (n.*169A>G) n.608A>G c.5258A>G (p.Glu1753Gly) c.5009A>G (p.Glu1670Gly) c.4931A>G (p.Glu1644Gly) c.4907A>G (p.Glu1636Gly) | |
| 14 | g.74500960T>G | CA390381981 | LTBP2 | c.5390A>C (p.Glu1797Ala) c.*169A>C (n.*169A>C) n.608A>C c.5258A>C (p.Glu1753Ala) c.5009A>C (p.Glu1670Ala) c.4931A>C (p.Glu1644Ala) c.4907A>C (p.Glu1636Ala) | |
| 14 | g.74500961C>A | CA390381983 | LTBP2 | c.5389G>T (p.Glu1797Ter) c.*168G>T (n.*168G>T) n.607G>T c.5257G>T (p.Glu1753Ter) c.5008G>T (p.Glu1670Ter) c.4930G>T (p.Glu1644Ter) c.4906G>T (p.Glu1636Ter) | |
| 14 | g.74500961C>G | CA390381985 | LTBP2 | c.5389G>C (p.Glu1797Gln) c.*168G>C (n.*168G>C) n.607G>C c.5257G>C (p.Glu1753Gln) c.5008G>C (p.Glu1670Gln) c.4930G>C (p.Glu1644Gln) c.4906G>C (p.Glu1636Gln) | |
| 14 | g.74500961C>T | CA390381984 | LTBP2 | c.5389G>A (p.Glu1797Lys) c.*168G>A (n.*168G>A) n.607G>A c.5257G>A (p.Glu1753Lys) c.5008G>A (p.Glu1670Lys) c.4930G>A (p.Glu1644Lys) c.4906G>A (p.Glu1636Lys) | |
| 14 | g.74500962T>A | CA487155755 | LTBP2 | c.5388A>T (p.Thr1796=) c.*167A>T (n.*167A>T) n.606A>T c.5256A>T (p.Thr1752=) c.5007A>T (p.Thr1669=) c.4929A>T (p.Thr1643=) c.4905A>T (p.Thr1635=) | gnomAD v4 |
| 14 | g.74500962T>C | CA487155756 | LTBP2 | c.5388A>G (p.Thr1796=) c.*167A>G (n.*167A>G) n.606A>G c.5256A>G (p.Thr1752=) c.5007A>G (p.Thr1669=) c.4929A>G (p.Thr1643=) c.4905A>G (p.Thr1635=) | |
| 14 | g.74500962T>G | CA487155757 | LTBP2 | c.5388A>C (p.Thr1796=) c.*167A>C (n.*167A>C) n.606A>C c.5256A>C (p.Thr1752=) c.5007A>C (p.Thr1669=) c.4929A>C (p.Thr1643=) c.4905A>C (p.Thr1635=) | |
| 14 | g.74500963G>A | CA390381987 | LTBP2 | c.5387C>T (p.Thr1796Ile) c.*166C>T (n.*166C>T) n.605C>T c.5255C>T (p.Thr1752Ile) c.5006C>T (p.Thr1669Ile) c.4928C>T (p.Thr1643Ile) c.4904C>T (p.Thr1635Ile) | dbSNP |
| 14 | g.74500963G>C | CA390381989 | LTBP2 | c.5387C>G (p.Thr1796Arg) c.*166C>G (n.*166C>G) n.605C>G c.5255C>G (p.Thr1752Arg) c.5006C>G (p.Thr1669Arg) c.4928C>G (p.Thr1643Arg) c.4904C>G (p.Thr1635Arg) | |
| 14 | g.74500963G= | CA2147073450 | LTBP2 | c.5387C= (p.Thr1796=) c.*166C= (n.*166C=) n.605C= c.5255C= (p.Thr1752=) c.5006C= (p.Thr1669=) c.4928C= (p.Thr1643=) c.4904C= (p.Thr1635=) | |
| 14 | g.74500963G>T | CA390381988 | LTBP2 | c.5387C>A (p.Thr1796Lys) c.*166C>A (n.*166C>A) n.605C>A c.5255C>A (p.Thr1752Lys) c.5006C>A (p.Thr1669Lys) c.4928C>A (p.Thr1643Lys) c.4904C>A (p.Thr1635Lys) | |
| 14 | g.74500964T>A | CA390381990 | LTBP2 | c.5386A>T (p.Thr1796Ser) c.*165A>T (n.*165A>T) n.604A>T c.5254A>T (p.Thr1752Ser) c.5005A>T (p.Thr1669Ser) c.4927A>T (p.Thr1643Ser) c.4903A>T (p.Thr1635Ser) | |
| 14 | g.74500964T>C | CA390381991 | LTBP2 | c.5386A>G (p.Thr1796Ala) c.*165A>G (n.*165A>G) n.604A>G c.5254A>G (p.Thr1752Ala) c.5005A>G (p.Thr1669Ala) c.4927A>G (p.Thr1643Ala) c.4903A>G (p.Thr1635Ala) | COSMIC |
| 14 | g.74500964T>G | CA390381992 | LTBP2 | c.5386A>C (p.Thr1796Pro) c.*165A>C (n.*165A>C) n.604A>C c.5254A>C (p.Thr1752Pro) c.5005A>C (p.Thr1669Pro) c.4927A>C (p.Thr1643Pro) c.4903A>C (p.Thr1635Pro) | |
| 14 | g.74500965G>A | CA487155759 | LTBP2 | c.5385C>T (p.Asn1795=) c.*164C>T (n.*164C>T) n.603C>T c.5253C>T (p.Asn1751=) c.5004C>T (p.Asn1668=) c.4926C>T (p.Asn1642=) c.4902C>T (p.Asn1634=) | |
| 14 | g.74500965G>C | CA390381993 | LTBP2 | c.5385C>G (p.Asn1795Lys) c.*164C>G (n.*164C>G) n.603C>G c.5253C>G (p.Asn1751Lys) c.5004C>G (p.Asn1668Lys) c.4926C>G (p.Asn1642Lys) c.4902C>G (p.Asn1634Lys) | |
| 14 | g.74500965G>T | CA390381994 | LTBP2 | c.5385C>A (p.Asn1795Lys) c.*164C>A (n.*164C>A) n.603C>A c.5253C>A (p.Asn1751Lys) c.5004C>A (p.Asn1668Lys) c.4926C>A (p.Asn1642Lys) c.4902C>A (p.Asn1634Lys) | |
| 14 | g.74500966T>A | CA390381997 | LTBP2 | c.5384A>T (p.Asn1795Ile) c.*163A>T (n.*163A>T) n.602A>T c.5252A>T (p.Asn1751Ile) c.5003A>T (p.Asn1668Ile) c.4925A>T (p.Asn1642Ile) c.4901A>T (p.Asn1634Ile) | |
| 14 | g.74500966T>C | CA390381998 | LTBP2 | c.5384A>G (p.Asn1795Ser) c.*163A>G (n.*163A>G) n.602A>G c.5252A>G (p.Asn1751Ser) c.5003A>G (p.Asn1668Ser) c.4925A>G (p.Asn1642Ser) c.4901A>G (p.Asn1634Ser) | |
| 14 | g.74500966T>G | CA390382000 | LTBP2 | c.5384A>C (p.Asn1795Thr) c.*163A>C (n.*163A>C) n.602A>C c.5252A>C (p.Asn1751Thr) c.5003A>C (p.Asn1668Thr) c.4925A>C (p.Asn1642Thr) c.4901A>C (p.Asn1634Thr) | |
| 14 | g.74500967T>A | CA390382002 | LTBP2 | c.5383A>T (p.Asn1795Tyr) c.*162A>T (n.*162A>T) n.601A>T c.5251A>T (p.Asn1751Tyr) c.5002A>T (p.Asn1668Tyr) c.4924A>T (p.Asn1642Tyr) c.4900A>T (p.Asn1634Tyr) | |
| 14 | g.74500967T>C | CA390382005 | LTBP2 | c.5383A>G (p.Asn1795Asp) c.*162A>G (n.*162A>G) n.601A>G c.5251A>G (p.Asn1751Asp) c.5002A>G (p.Asn1668Asp) c.4924A>G (p.Asn1642Asp) c.4900A>G (p.Asn1634Asp) | gnomAD v4 |
| 14 | g.74500967T>G | CA390382004 | LTBP2 | c.5383A>C (p.Asn1795His) c.*162A>C (n.*162A>C) n.601A>C c.5251A>C (p.Asn1751His) c.5002A>C (p.Asn1668His) c.4924A>C (p.Asn1642His) c.4900A>C (p.Asn1634His) | |
| 14 | g.74500968C>A | CA390382006 | LTBP2 | c.5382G>T (p.Glu1794Asp) c.*161G>T (n.*161G>T) n.600G>T c.5250G>T (p.Glu1750Asp) c.5001G>T (p.Glu1667Asp) c.4923G>T (p.Glu1641Asp) c.4899G>T (p.Glu1633Asp) | |
| 14 | g.74500968C>G | CA390382007 | LTBP2 | c.5382G>C (p.Glu1794Asp) c.*161G>C (n.*161G>C) n.600G>C c.5250G>C (p.Glu1750Asp) c.5001G>C (p.Glu1667Asp) c.4923G>C (p.Glu1641Asp) c.4899G>C (p.Glu1633Asp) | |
| 14 | g.74500968C>T | CA487155760 | LTBP2 | c.5382G>A (p.Glu1794=) c.*161G>A (n.*161G>A) n.600G>A c.5250G>A (p.Glu1750=) c.5001G>A (p.Glu1667=) c.4923G>A (p.Glu1641=) c.4899G>A (p.Glu1633=) | |
| 14 | g.74500969T>A | CA390382009 | LTBP2 | c.5381A>T (p.Glu1794Val) c.*160A>T (n.*160A>T) n.599A>T c.5249A>T (p.Glu1750Val) c.5000A>T (p.Glu1667Val) c.4922A>T (p.Glu1641Val) c.4898A>T (p.Glu1633Val) | |
| 14 | g.74500969T>C | CA390382011 | LTBP2 | c.5381A>G (p.Glu1794Gly) c.*160A>G (n.*160A>G) n.599A>G c.5249A>G (p.Glu1750Gly) c.5000A>G (p.Glu1667Gly) c.4922A>G (p.Glu1641Gly) c.4898A>G (p.Glu1633Gly) | |
| 14 | g.74500969T>G | CA390382013 | LTBP2 | c.5381A>C (p.Glu1794Ala) c.*160A>C (n.*160A>C) n.599A>C c.5249A>C (p.Glu1750Ala) c.5000A>C (p.Glu1667Ala) c.4922A>C (p.Glu1641Ala) c.4898A>C (p.Glu1633Ala) | |
| 14 | g.74500970C>A | CA390382015 | LTBP2 | c.5380G>T (p.Glu1794Ter) c.*159G>T (n.*159G>T) n.598G>T c.5248G>T (p.Glu1750Ter) c.4999G>T (p.Glu1667Ter) c.4921G>T (p.Glu1641Ter) c.4897G>T (p.Glu1633Ter) | |
| 14 | g.74500970C= | CA2147073451 | LTBP2 | c.5380G= (p.Glu1794=) c.*159G= (n.*159G=) n.598G= c.5248G= (p.Glu1750=) c.4999G= (p.Glu1667=) c.4921G= (p.Glu1641=) c.4897G= (p.Glu1633=) | |
| 14 | g.74500970C>G | CA390382017 | LTBP2 | c.5380G>C (p.Glu1794Gln) c.*159G>C (n.*159G>C) n.598G>C c.5248G>C (p.Glu1750Gln) c.4999G>C (p.Glu1667Gln) c.4921G>C (p.Glu1641Gln) c.4897G>C (p.Glu1633Gln) | |
| 14 | g.74500970C>T | CA7268413 | LTBP2 | c.5380G>A (p.Glu1794Lys) c.*159G>A (n.*159G>A) n.598G>A c.5248G>A (p.Glu1750Lys) c.4999G>A (p.Glu1667Lys) c.4921G>A (p.Glu1641Lys) c.4897G>A (p.Glu1633Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500971G>A | CA7268414 | LTBP2 | c.5379C>T (p.Cys1793=) c.*158C>T (n.*158C>T) n.597C>T c.5247C>T (p.Cys1749=) c.4998C>T (p.Cys1666=) c.4920C>T (p.Cys1640=) c.4896C>T (p.Cys1632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500971G>C | CA390382018 | LTBP2 | c.5379C>G (p.Cys1793Trp) c.*158C>G (n.*158C>G) n.597C>G c.5247C>G (p.Cys1749Trp) c.4998C>G (p.Cys1666Trp) c.4920C>G (p.Cys1640Trp) c.4896C>G (p.Cys1632Trp) | dbSNP |
| 14 | g.74500971G= | CA2147073452 | LTBP2 | c.5379C= (p.Cys1793=) c.*158C= (n.*158C=) n.597C= c.5247C= (p.Cys1749=) c.4998C= (p.Cys1666=) c.4920C= (p.Cys1640=) c.4896C= (p.Cys1632=) | |
| 14 | g.74500971G>T | CA7268415 | LTBP2 | c.5379C>A (p.Cys1793Ter) c.*158C>A (n.*158C>A) n.597C>A c.5247C>A (p.Cys1749Ter) c.4998C>A (p.Cys1666Ter) c.4920C>A (p.Cys1640Ter) c.4896C>A (p.Cys1632Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500972C>A | CA390382020 | LTBP2 | c.5378G>T (p.Cys1793Phe) c.*157G>T (n.*157G>T) n.596G>T c.5246G>T (p.Cys1749Phe) c.4997G>T (p.Cys1666Phe) c.4919G>T (p.Cys1640Phe) c.4895G>T (p.Cys1632Phe) | |
| 14 | g.74500972C= | CA2147073453 | LTBP2 | c.5378G= (p.Cys1793=) c.*157G= (n.*157G=) n.596G= c.5246G= (p.Cys1749=) c.4997G= (p.Cys1666=) c.4919G= (p.Cys1640=) c.4895G= (p.Cys1632=) | |
| 14 | g.74500972C>G | CA390382022 | LTBP2 | c.5378G>C (p.Cys1793Ser) c.*157G>C (n.*157G>C) n.596G>C c.5246G>C (p.Cys1749Ser) c.4997G>C (p.Cys1666Ser) c.4919G>C (p.Cys1640Ser) c.4895G>C (p.Cys1632Ser) | |
| 14 | g.74500972C>T | CA7268416 | LTBP2 | c.5378G>A (p.Cys1793Tyr) c.*157G>A (n.*157G>A) n.596G>A c.5246G>A (p.Cys1749Tyr) c.4997G>A (p.Cys1666Tyr) c.4919G>A (p.Cys1640Tyr) c.4895G>A (p.Cys1632Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500973A= | CA2147073455 | LTBP2 | c.5377T= (p.Cys1793=) c.*156T= (n.*156T=) n.595T= c.5245T= (p.Cys1749=) c.4996T= (p.Cys1666=) c.4918T= (p.Cys1640=) c.4894T= (p.Cys1632=) | |
| 14 | g.74500973A>C | CA390382025 | LTBP2 | c.5377T>G (p.Cys1793Gly) c.*156T>G (n.*156T>G) n.595T>G c.5245T>G (p.Cys1749Gly) c.4996T>G (p.Cys1666Gly) c.4918T>G (p.Cys1640Gly) c.4894T>G (p.Cys1632Gly) | |
| 14 | g.74500973A>G | CA390382026 | LTBP2 | c.5377T>C (p.Cys1793Arg) c.*156T>C (n.*156T>C) n.595T>C c.5245T>C (p.Cys1749Arg) c.4996T>C (p.Cys1666Arg) c.4918T>C (p.Cys1640Arg) c.4894T>C (p.Cys1632Arg) | dbSNP |
| 14 | g.74500973A>T | CA390382027 | LTBP2 | c.5377T>A (p.Cys1793Ser) c.*156T>A (n.*156T>A) n.595T>A c.5245T>A (p.Cys1749Ser) c.4996T>A (p.Cys1666Ser) c.4918T>A (p.Cys1640Ser) c.4894T>A (p.Cys1632Ser) | |
| 14 | g.74500973_74500974delinsAG | CA2147073454 | LTBP2 | c.5376_5377delinsCT (p.Tyr1792=) c.*155_*156delinsCT (n.*155_*156delinsCT) n.594_595delinsCT c.5244_5245delinsCT (p.Tyr1748=) c.4995_4996delinsCT (p.Tyr1665=) c.4917_4918delinsCT (p.Tyr1639=) c.4893_4894delinsCT (p.Tyr1631=) | |
| 14 | g.74500974del | CA269734 | LTBP2 | c.5376del (p.Cys1793AlafsTer?) c.*155del (n.*155del) n.594del c.5244del (p.Cys1749AlafsTer?) c.4995del (p.Cys1666AlafsTer?) c.4917del (p.Cys1640AlafsTer?) c.4893del (p.Cys1632AlafsTer?) | ClinVar dbSNP |
| 14 | g.74500974G>A | CA487155761 | LTBP2 | c.5376C>T (p.Tyr1792=) c.*155C>T (n.*155C>T) n.594C>T c.5244C>T (p.Tyr1748=) c.4995C>T (p.Tyr1665=) c.4917C>T (p.Tyr1639=) c.4893C>T (p.Tyr1631=) | |
| 14 | g.74500974G>C | CA390382029 | LTBP2 | c.5376C>G (p.Tyr1792Ter) c.*155C>G (n.*155C>G) n.594C>G c.5244C>G (p.Tyr1748Ter) c.4995C>G (p.Tyr1665Ter) c.4917C>G (p.Tyr1639Ter) c.4893C>G (p.Tyr1631Ter) | |
| 14 | g.74500974G>T | CA390382031 | LTBP2 | c.5376C>A (p.Tyr1792Ter) c.*155C>A (n.*155C>A) n.594C>A c.5244C>A (p.Tyr1748Ter) c.4995C>A (p.Tyr1665Ter) c.4917C>A (p.Tyr1639Ter) c.4893C>A (p.Tyr1631Ter) | |
| 14 | g.74500975T>A | CA390382037 | LTBP2 | c.5375A>T (p.Tyr1792Phe) c.*154A>T (n.*154A>T) n.593A>T c.5243A>T (p.Tyr1748Phe) c.4994A>T (p.Tyr1665Phe) c.4916A>T (p.Tyr1639Phe) c.4892A>T (p.Tyr1631Phe) | |
| 14 | g.74500975T>C | CA390382035 | LTBP2 | c.5375A>G (p.Tyr1792Cys) c.*154A>G (n.*154A>G) n.593A>G c.5243A>G (p.Tyr1748Cys) c.4994A>G (p.Tyr1665Cys) c.4916A>G (p.Tyr1639Cys) c.4892A>G (p.Tyr1631Cys) | |
| 14 | g.74500975T>G | CA390382036 | LTBP2 | c.5375A>C (p.Tyr1792Ser) c.*154A>C (n.*154A>C) n.593A>C c.5243A>C (p.Tyr1748Ser) c.4994A>C (p.Tyr1665Ser) c.4916A>C (p.Tyr1639Ser) c.4892A>C (p.Tyr1631Ser) | |
| 14 | g.74500976A>C | CA390382040 | LTBP2 | c.5374T>G (p.Tyr1792Asp) c.*153T>G (n.*153T>G) n.592T>G c.5242T>G (p.Tyr1748Asp) c.4993T>G (p.Tyr1665Asp) c.4915T>G (p.Tyr1639Asp) c.4891T>G (p.Tyr1631Asp) | |
| 14 | g.74500976A>G | CA390382042 | LTBP2 | c.5374T>C (p.Tyr1792His) c.*153T>C (n.*153T>C) n.592T>C c.5242T>C (p.Tyr1748His) c.4993T>C (p.Tyr1665His) c.4915T>C (p.Tyr1639His) c.4891T>C (p.Tyr1631His) | |
| 14 | g.74500976A>T | CA390382044 | LTBP2 | c.5374T>A (p.Tyr1792Asn) c.*153T>A (n.*153T>A) n.592T>A c.5242T>A (p.Tyr1748Asn) c.4993T>A (p.Tyr1665Asn) c.4915T>A (p.Tyr1639Asn) c.4891T>A (p.Tyr1631Asn) | |
| 14 | g.74500977A>C | CA487155762 | LTBP2 | c.5373T>G (p.Gly1791=) c.*152T>G (n.*152T>G) n.591T>G c.5241T>G (p.Gly1747=) c.4992T>G (p.Gly1664=) c.4914T>G (p.Gly1638=) c.4890T>G (p.Gly1630=) | |
| 14 | g.74500977A>G | CA487155763 | LTBP2 | c.5373T>C (p.Gly1791=) c.*152T>C (n.*152T>C) n.591T>C c.5241T>C (p.Gly1747=) c.4992T>C (p.Gly1664=) c.4914T>C (p.Gly1638=) c.4890T>C (p.Gly1630=) | |
| 14 | g.74500977A>T | CA487155764 | LTBP2 | c.5373T>A (p.Gly1791=) c.*152T>A (n.*152T>A) n.591T>A c.5241T>A (p.Gly1747=) c.4992T>A (p.Gly1664=) c.4914T>A (p.Gly1638=) c.4890T>A (p.Gly1630=) | |
| 14 | g.74500978C>A | CA390382046 | LTBP2 | c.5372G>T (p.Gly1791Val) c.*151G>T (n.*151G>T) n.590G>T c.5240G>T (p.Gly1747Val) c.4991G>T (p.Gly1664Val) c.4913G>T (p.Gly1638Val) c.4889G>T (p.Gly1630Val) | |
| 14 | g.74500978C>G | CA390382048 | LTBP2 | c.5372G>C (p.Gly1791Ala) c.*151G>C (n.*151G>C) n.590G>C c.5240G>C (p.Gly1747Ala) c.4991G>C (p.Gly1664Ala) c.4913G>C (p.Gly1638Ala) c.4889G>C (p.Gly1630Ala) | |
| 14 | g.74500978C>T | CA390382050 | LTBP2 | c.5372G>A (p.Gly1791Asp) c.*151G>A (n.*151G>A) n.590G>A c.5240G>A (p.Gly1747Asp) c.4991G>A (p.Gly1664Asp) c.4913G>A (p.Gly1638Asp) c.4889G>A (p.Gly1630Asp) | |
| 14 | g.74500979C>A | CA390382055 | LTBP2 | c.5371G>T (p.Gly1791Cys) c.*150G>T (n.*150G>T) n.589G>T c.5239G>T (p.Gly1747Cys) c.4990G>T (p.Gly1664Cys) c.4912G>T (p.Gly1638Cys) c.4888G>T (p.Gly1630Cys) | |
| 14 | g.74500979C>G | CA390382053 | LTBP2 | c.5371G>C (p.Gly1791Arg) c.*150G>C (n.*150G>C) n.589G>C c.5239G>C (p.Gly1747Arg) c.4990G>C (p.Gly1664Arg) c.4912G>C (p.Gly1638Arg) c.4888G>C (p.Gly1630Arg) | |
| 14 | g.74500979C>T | CA390382051 | LTBP2 | c.5371G>A (p.Gly1791Ser) c.*150G>A (n.*150G>A) n.589G>A c.5239G>A (p.Gly1747Ser) c.4990G>A (p.Gly1664Ser) c.4912G>A (p.Gly1638Ser) c.4888G>A (p.Gly1630Ser) | COSMIC |
| 14 | g.74500980A= | CA2147073456 | LTBP2 | c.5370T= (p.His1790=) c.*149T= (n.*149T=) n.588T= c.5238T= (p.His1746=) c.4989T= (p.His1663=) c.4911T= (p.His1637=) c.4887T= (p.His1629=) | |
| 14 | g.74500980A>C | CA390382057 | LTBP2 | c.5370T>G (p.His1790Gln) c.*149T>G (n.*149T>G) n.588T>G c.5238T>G (p.His1746Gln) c.4989T>G (p.His1663Gln) c.4911T>G (p.His1637Gln) c.4887T>G (p.His1629Gln) | |
| 14 | g.74500980A>G | CA263577373 | LTBP2 | c.5370T>C (p.His1790=) c.*149T>C (n.*149T>C) n.588T>C c.5238T>C (p.His1746=) c.4989T>C (p.His1663=) c.4911T>C (p.His1637=) c.4887T>C (p.His1629=) | dbSNP |
| 14 | g.74500980A>T | CA390382059 | LTBP2 | c.5370T>A (p.His1790Gln) c.*149T>A (n.*149T>A) n.588T>A c.5238T>A (p.His1746Gln) c.4989T>A (p.His1663Gln) c.4911T>A (p.His1637Gln) c.4887T>A (p.His1629Gln) | |
| 14 | g.74500981T>A | CA390382062 | LTBP2 | c.5369A>T (p.His1790Leu) c.*148A>T (n.*148A>T) n.587A>T c.5237A>T (p.His1746Leu) c.4988A>T (p.His1663Leu) c.4910A>T (p.His1637Leu) c.4886A>T (p.His1629Leu) | |
| 14 | g.74500981T>C | CA390382063 | LTBP2 | c.5369A>G (p.His1790Arg) c.*148A>G (n.*148A>G) n.587A>G c.5237A>G (p.His1746Arg) c.4988A>G (p.His1663Arg) c.4910A>G (p.His1637Arg) c.4886A>G (p.His1629Arg) | |
| 14 | g.74500981T>G | CA390382064 | LTBP2 | c.5369A>C (p.His1790Pro) c.*148A>C (n.*148A>C) n.587A>C c.5237A>C (p.His1746Pro) c.4988A>C (p.His1663Pro) c.4910A>C (p.His1637Pro) c.4886A>C (p.His1629Pro) | |
| 14 | g.74500982G>A | CA390382065 | LTBP2 | c.5368C>T (p.His1790Tyr) c.*147C>T (n.*147C>T) n.586C>T c.5236C>T (p.His1746Tyr) c.4987C>T (p.His1663Tyr) c.4909C>T (p.His1637Tyr) c.4885C>T (p.His1629Tyr) | |
| 14 | g.74500982G>C | CA390382067 | LTBP2 | c.5368C>G (p.His1790Asp) c.*147C>G (n.*147C>G) n.586C>G c.5236C>G (p.His1746Asp) c.4987C>G (p.His1663Asp) c.4909C>G (p.His1637Asp) c.4885C>G (p.His1629Asp) | |
| 14 | g.74500982G>T | CA390382066 | LTBP2 | c.5368C>A (p.His1790Asn) c.*147C>A (n.*147C>A) n.586C>A c.5236C>A (p.His1746Asn) c.4987C>A (p.His1663Asn) c.4909C>A (p.His1637Asn) c.4885C>A (p.His1629Asn) | |
| 14 | g.74500983dup | CA2625672202 | LTBP2 | c.5368dup (p.His1790ProfsTer22) c.*147dup (n.*147dup) n.586dup c.5236dup (p.His1746ProfsTer22) c.4987dup (p.His1663ProfsTer22) c.4909dup (p.His1637ProfsTer22) c.4885dup (p.His1629ProfsTer22) | gnomAD v4 |
| 14 | g.74500983G>A | CA487155765 | LTBP2 | c.5367C>T (p.Val1789=) c.*146C>T (n.*146C>T) n.585C>T c.5235C>T (p.Val1745=) c.4986C>T (p.Val1662=) c.4908C>T (p.Val1636=) c.4884C>T (p.Val1628=) | |
| 14 | g.74500983G>C | CA487155766 | LTBP2 | c.5367C>G (p.Val1789=) c.*146C>G (n.*146C>G) n.585C>G c.5235C>G (p.Val1745=) c.4986C>G (p.Val1662=) c.4908C>G (p.Val1636=) c.4884C>G (p.Val1628=) | |
| 14 | g.74500983G>T | CA487155767 | LTBP2 | c.5367C>A (p.Val1789=) c.*146C>A (n.*146C>A) n.585C>A c.5235C>A (p.Val1745=) c.4986C>A (p.Val1662=) c.4908C>A (p.Val1636=) c.4884C>A (p.Val1628=) | |
| 14 | g.74500984A= | CA2147073457 | LTBP2 | c.5366T= (p.Val1789=) c.*145T= (n.*145T=) n.584T= c.5234T= (p.Val1745=) c.4985T= (p.Val1662=) c.4907T= (p.Val1636=) c.4883T= (p.Val1628=) | |
| 14 | g.74500984A>C | CA390382068 | LTBP2 | c.5366T>G (p.Val1789Gly) c.*145T>G (n.*145T>G) n.584T>G c.5234T>G (p.Val1745Gly) c.4985T>G (p.Val1662Gly) c.4907T>G (p.Val1636Gly) c.4883T>G (p.Val1628Gly) | |
| 14 | g.74500984A>G | CA7268418 | LTBP2 | c.5366T>C (p.Val1789Ala) c.*145T>C (n.*145T>C) n.584T>C c.5234T>C (p.Val1745Ala) c.4985T>C (p.Val1662Ala) c.4907T>C (p.Val1636Ala) c.4883T>C (p.Val1628Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500984A>T | CA7268417 | LTBP2 | c.5366T>A (p.Val1789Asp) c.*145T>A (n.*145T>A) n.584T>A c.5234T>A (p.Val1745Asp) c.4985T>A (p.Val1662Asp) c.4907T>A (p.Val1636Asp) c.4883T>A (p.Val1628Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500985C>A | CA390382069 | LTBP2 | c.5365G>T (p.Val1789Phe) c.*144G>T (n.*144G>T) n.583G>T c.5233G>T (p.Val1745Phe) c.4984G>T (p.Val1662Phe) c.4906G>T (p.Val1636Phe) c.4882G>T (p.Val1628Phe) | |
| 14 | g.74500985C= | CA2147073458 | LTBP2 | c.5365G= (p.Val1789=) c.*144G= (n.*144G=) n.583G= c.5233G= (p.Val1745=) c.4984G= (p.Val1662=) c.4906G= (p.Val1636=) c.4882G= (p.Val1628=) | |
| 14 | g.74500985C>G | CA7268419 | LTBP2 | c.5365G>C (p.Val1789Leu) c.*144G>C (n.*144G>C) n.583G>C c.5233G>C (p.Val1745Leu) c.4984G>C (p.Val1662Leu) c.4906G>C (p.Val1636Leu) c.4882G>C (p.Val1628Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74500985C>T | CA390382070 | LTBP2 | c.5365G>A (p.Val1789Ile) c.*144G>A (n.*144G>A) n.583G>A c.5233G>A (p.Val1745Ile) c.4984G>A (p.Val1662Ile) c.4906G>A (p.Val1636Ile) c.4882G>A (p.Val1628Ile) | |
| 14 | g.74500986A>C | CA390382071 | LTBP2 | c.5364T>G (p.Cys1788Trp) c.*143T>G (n.*143T>G) n.582T>G c.5232T>G (p.Cys1744Trp) c.4983T>G (p.Cys1661Trp) c.4905T>G (p.Cys1635Trp) c.4881T>G (p.Cys1627Trp) | |
| 14 | g.74500986A>G | CA487155768 | LTBP2 | c.5364T>C (p.Cys1788=) c.*143T>C (n.*143T>C) n.582T>C c.5232T>C (p.Cys1744=) c.4983T>C (p.Cys1661=) c.4905T>C (p.Cys1635=) c.4881T>C (p.Cys1627=) | ClinVar dbSNP |
| 14 | g.74500986A>T | CA390382072 | LTBP2 | c.5364T>A (p.Cys1788Ter) c.*143T>A (n.*143T>A) n.582T>A c.5232T>A (p.Cys1744Ter) c.4983T>A (p.Cys1661Ter) c.4905T>A (p.Cys1635Ter) c.4881T>A (p.Cys1627Ter) | gnomAD v4 |