| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 14 | g.74500987C>A | CA390382073 | LTBP2 | c.5363G>T (p.Cys1788Phe) c.*142G>T (n.*142G>T) n.581G>T c.5231G>T (p.Cys1744Phe) c.4982G>T (p.Cys1661Phe) c.4904G>T (p.Cys1635Phe) c.4880G>T (p.Cys1627Phe) | |
| 14 | g.74500987C>G | CA390382074 | LTBP2 | c.5363G>C (p.Cys1788Ser) c.*142G>C (n.*142G>C) n.581G>C c.5231G>C (p.Cys1744Ser) c.4982G>C (p.Cys1661Ser) c.4904G>C (p.Cys1635Ser) c.4880G>C (p.Cys1627Ser) | |
| 14 | g.74500987C>T | CA390382075 | LTBP2 | c.5363G>A (p.Cys1788Tyr) c.*142G>A (n.*142G>A) n.581G>A c.5231G>A (p.Cys1744Tyr) c.4982G>A (p.Cys1661Tyr) c.4904G>A (p.Cys1635Tyr) c.4880G>A (p.Cys1627Tyr) | |
| 14 | g.74500987_74500989delinsCAG | CA2147073459 | LTBP2 | c.5361_5363delinsCTG (p.Leu1787=) c.*140_*142delinsCTG (n.*140_*142delinsCTG) n.579_581delinsCTG c.5229_5231delinsCTG (p.Leu1743=) c.4980_4982delinsCTG (p.Leu1660=) c.4902_4904delinsCTG (p.Leu1634=) c.4878_4880delinsCTG (p.Leu1626=) | |
| 14 | g.74500988A= | CA2147073461 | LTBP2 | c.5362T= (p.Cys1788=) c.*141T= (n.*141T=) n.580T= c.5230T= (p.Cys1744=) c.4981T= (p.Cys1661=) c.4903T= (p.Cys1635=) c.4879T= (p.Cys1627=) |