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.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=) | |
| 14 | g.74500988A>C | CA263577396 | LTBP2 | c.5362T>G (p.Cys1788Gly) c.*141T>G (n.*141T>G) n.580T>G c.5230T>G (p.Cys1744Gly) c.4981T>G (p.Cys1661Gly) c.4903T>G (p.Cys1635Gly) c.4879T>G (p.Cys1627Gly) | dbSNP |
| 14 | g.74500988A>G | CA390382077 | LTBP2 | c.5362T>C (p.Cys1788Arg) c.*141T>C (n.*141T>C) n.580T>C c.5230T>C (p.Cys1744Arg) c.4981T>C (p.Cys1661Arg) c.4903T>C (p.Cys1635Arg) c.4879T>C (p.Cys1627Arg) | |
| 14 | g.74500988A>T | CA390382076 | LTBP2 | c.5362T>A (p.Cys1788Ser) c.*141T>A (n.*141T>A) n.580T>A c.5230T>A (p.Cys1744Ser) c.4981T>A (p.Cys1661Ser) c.4903T>A (p.Cys1635Ser) c.4879T>A (p.Cys1627Ser) | |
| 14 | g.74500990_74500991del | CA2147073460 | LTBP2 | c.5361_5362del (p.Val1789ProfsTer22) c.*140_*141del (n.*140_*141del) n.579_580del c.5229_5230del (p.Val1745ProfsTer22) c.4980_4981del (p.Val1662ProfsTer22) c.4902_4903del (p.Val1636ProfsTer22) c.4878_4879del (p.Val1628ProfsTer22) | dbSNP |
| 14 | g.74500989G>A | CA487155769 | LTBP2 | c.5361C>T (p.Leu1787=) c.*140C>T (n.*140C>T) n.579C>T c.5229C>T (p.Leu1743=) c.4980C>T (p.Leu1660=) c.4902C>T (p.Leu1634=) c.4878C>T (p.Leu1626=) | |
| 14 | g.74500989G>C | CA487155770 | LTBP2 | c.5361C>G (p.Leu1787=) c.*140C>G (n.*140C>G) n.579C>G c.5229C>G (p.Leu1743=) c.4980C>G (p.Leu1660=) c.4902C>G (p.Leu1634=) c.4878C>G (p.Leu1626=) | |
| 14 | g.74500989G>T | CA487155771 | LTBP2 | c.5361C>A (p.Leu1787=) c.*140C>A (n.*140C>A) n.579C>A c.5229C>A (p.Leu1743=) c.4980C>A (p.Leu1660=) c.4902C>A (p.Leu1634=) c.4878C>A (p.Leu1626=) | |
| 14 | g.74500990A>C | CA390382078 | LTBP2 | c.5360T>G (p.Leu1787Arg) c.*139T>G (n.*139T>G) n.578T>G c.5228T>G (p.Leu1743Arg) c.4979T>G (p.Leu1660Arg) c.4901T>G (p.Leu1634Arg) c.4877T>G (p.Leu1626Arg) | |
| 14 | g.74500990A>G | CA390382080 | LTBP2 | c.5360T>C (p.Leu1787Pro) c.*139T>C (n.*139T>C) n.578T>C c.5228T>C (p.Leu1743Pro) c.4979T>C (p.Leu1660Pro) c.4901T>C (p.Leu1634Pro) c.4877T>C (p.Leu1626Pro) | |
| 14 | g.74500990A>T | CA390382079 | LTBP2 | c.5360T>A (p.Leu1787His) c.*139T>A (n.*139T>A) n.578T>A c.5228T>A (p.Leu1743His) c.4979T>A (p.Leu1660His) c.4901T>A (p.Leu1634His) c.4877T>A (p.Leu1626His) | |
| 14 | g.74500991G>A | CA390382081 | LTBP2 | c.5359C>T (p.Leu1787Phe) c.*138C>T (n.*138C>T) n.577C>T c.5227C>T (p.Leu1743Phe) c.4978C>T (p.Leu1660Phe) c.4900C>T (p.Leu1634Phe) c.4876C>T (p.Leu1626Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74500991G>C | CA390382082 | LTBP2 | c.5359C>G (p.Leu1787Val) c.*138C>G (n.*138C>G) n.577C>G c.5227C>G (p.Leu1743Val) c.4978C>G (p.Leu1660Val) c.4900C>G (p.Leu1634Val) c.4876C>G (p.Leu1626Val) | |
| 14 | g.74500991G= | CA2147073462 | LTBP2 | c.5359C= (p.Leu1787=) c.*138C= (n.*138C=) n.577C= c.5227C= (p.Leu1743=) c.4978C= (p.Leu1660=) c.4900C= (p.Leu1634=) c.4876C= (p.Leu1626=) | |
| 14 | g.74500991G>T | CA390382083 | LTBP2 | c.5359C>A (p.Leu1787Ile) c.*138C>A (n.*138C>A) n.577C>A c.5227C>A (p.Leu1743Ile) c.4978C>A (p.Leu1660Ile) c.4900C>A (p.Leu1634Ile) c.4876C>A (p.Leu1626Ile) | |
| 14 | g.74500992C>A | CA7268420 | LTBP2 | c.5358G>T (p.Val1786=) c.*137G>T (n.*137G>T) n.576G>T c.5226G>T (p.Val1742=) c.4977G>T (p.Val1659=) c.4899G>T (p.Val1633=) c.4875G>T (p.Val1625=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500992C= | CA2147073463 | LTBP2 | c.5358G= (p.Val1786=) c.*137G= (n.*137G=) n.576G= c.5226G= (p.Val1742=) c.4977G= (p.Val1659=) c.4899G= (p.Val1633=) c.4875G= (p.Val1625=) | |
| 14 | g.74500992C>G | CA487155772 | LTBP2 | c.5358G>C (p.Val1786=) c.*137G>C (n.*137G>C) n.576G>C c.5226G>C (p.Val1742=) c.4977G>C (p.Val1659=) c.4899G>C (p.Val1633=) c.4875G>C (p.Val1625=) | |
| 14 | g.74500992C>T | CA487155773 | LTBP2 | c.5358G>A (p.Val1786=) c.*137G>A (n.*137G>A) n.576G>A c.5226G>A (p.Val1742=) c.4977G>A (p.Val1659=) c.4899G>A (p.Val1633=) c.4875G>A (p.Val1625=) | |
| 14 | g.74500993A>C | CA390382084 | LTBP2 | c.5357T>G (p.Val1786Gly) c.*136T>G (n.*136T>G) n.575T>G c.5225T>G (p.Val1742Gly) c.4976T>G (p.Val1659Gly) c.4898T>G (p.Val1633Gly) c.4874T>G (p.Val1625Gly) | |
| 14 | g.74500993A>G | CA390382085 | LTBP2 | c.5357T>C (p.Val1786Ala) c.*136T>C (n.*136T>C) n.575T>C c.5225T>C (p.Val1742Ala) c.4976T>C (p.Val1659Ala) c.4898T>C (p.Val1633Ala) c.4874T>C (p.Val1625Ala) | |
| 14 | g.74500993A>T | CA390382086 | LTBP2 | c.5357T>A (p.Val1786Glu) c.*136T>A (n.*136T>A) n.575T>A c.5225T>A (p.Val1742Glu) c.4976T>A (p.Val1659Glu) c.4898T>A (p.Val1633Glu) c.4874T>A (p.Val1625Glu) | |
| 14 | g.74500994C>A | CA390382087 | LTBP2 | c.5356G>T (p.Val1786Leu) c.*135G>T (n.*135G>T) n.574G>T c.5224G>T (p.Val1742Leu) c.4975G>T (p.Val1659Leu) c.4897G>T (p.Val1633Leu) c.4873G>T (p.Val1625Leu) | |
| 14 | g.74500994C= | CA2147073464 | LTBP2 | c.5356G= (p.Val1786=) c.*135G= (n.*135G=) n.574G= c.5224G= (p.Val1742=) c.4975G= (p.Val1659=) c.4897G= (p.Val1633=) c.4873G= (p.Val1625=) | |
| 14 | g.74500994C>G | CA390382088 | LTBP2 | c.5356G>C (p.Val1786Leu) c.*135G>C (n.*135G>C) n.574G>C c.5224G>C (p.Val1742Leu) c.4975G>C (p.Val1659Leu) c.4897G>C (p.Val1633Leu) c.4873G>C (p.Val1625Leu) | |
| 14 | g.74500994C>T | CA390382089 | LTBP2 | c.5356G>A (p.Val1786Met) c.*135G>A (n.*135G>A) n.574G>A c.5224G>A (p.Val1742Met) c.4975G>A (p.Val1659Met) c.4897G>A (p.Val1633Met) c.4873G>A (p.Val1625Met) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74500995A= | CA2147073465 | LTBP2 | c.5355T= (p.Ala1785=) c.*134T= (n.*134T=) n.573T= c.5223T= (p.Ala1741=) c.4974T= (p.Ala1658=) c.4896T= (p.Ala1632=) c.4872T= (p.Ala1624=) | |
| 14 | g.74500995A>C | CA487155774 | LTBP2 | c.5355T>G (p.Ala1785=) c.*134T>G (n.*134T>G) n.573T>G c.5223T>G (p.Ala1741=) c.4974T>G (p.Ala1658=) c.4896T>G (p.Ala1632=) c.4872T>G (p.Ala1624=) | |
| 14 | g.74500995A>G | CA7268421 | LTBP2 | c.5355T>C (p.Ala1785=) c.*134T>C (n.*134T>C) n.573T>C c.5223T>C (p.Ala1741=) c.4974T>C (p.Ala1658=) c.4896T>C (p.Ala1632=) c.4872T>C (p.Ala1624=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74500995A>T | CA487155775 | LTBP2 | c.5355T>A (p.Ala1785=) c.*134T>A (n.*134T>A) n.573T>A c.5223T>A (p.Ala1741=) c.4974T>A (p.Ala1658=) c.4896T>A (p.Ala1632=) c.4872T>A (p.Ala1624=) | |
| 14 | g.74500996G>A | CA390382092 | LTBP2 | c.5354C>T (p.Ala1785Val) c.*133C>T (n.*133C>T) n.572C>T c.5222C>T (p.Ala1741Val) c.4973C>T (p.Ala1658Val) c.4895C>T (p.Ala1632Val) c.4871C>T (p.Ala1624Val) | |
| 14 | g.74500996G>C | CA390382091 | LTBP2 | c.5354C>G (p.Ala1785Gly) c.*133C>G (n.*133C>G) n.572C>G c.5222C>G (p.Ala1741Gly) c.4973C>G (p.Ala1658Gly) c.4895C>G (p.Ala1632Gly) c.4871C>G (p.Ala1624Gly) | |
| 14 | g.74500996G>T | CA390382090 | LTBP2 | c.5354C>A (p.Ala1785Asp) c.*133C>A (n.*133C>A) n.572C>A c.5222C>A (p.Ala1741Asp) c.4973C>A (p.Ala1658Asp) c.4895C>A (p.Ala1632Asp) c.4871C>A (p.Ala1624Asp) | gnomAD v4 |
| 14 | g.74500997C>A | CA390382093 | LTBP2 | c.5353G>T (p.Ala1785Ser) c.*132G>T (n.*132G>T) n.571G>T c.5221G>T (p.Ala1741Ser) c.4972G>T (p.Ala1658Ser) c.4894G>T (p.Ala1632Ser) c.4870G>T (p.Ala1624Ser) | |
| 14 | g.74500997C>G | CA390382094 | LTBP2 | c.5353G>C (p.Ala1785Pro) c.*132G>C (n.*132G>C) n.571G>C c.5221G>C (p.Ala1741Pro) c.4972G>C (p.Ala1658Pro) c.4894G>C (p.Ala1632Pro) c.4870G>C (p.Ala1624Pro) | |
| 14 | g.74500997C>T | CA390382095 | LTBP2 | c.5353G>A (p.Ala1785Thr) c.*132G>A (n.*132G>A) n.571G>A c.5221G>A (p.Ala1741Thr) c.4972G>A (p.Ala1658Thr) c.4894G>A (p.Ala1632Thr) c.4870G>A (p.Ala1624Thr) | |
| 14 | g.74500998A>C | CA487155776 | LTBP2 | c.5352T>G (p.Pro1784=) c.*131T>G (n.*131T>G) n.570T>G c.5220T>G (p.Pro1740=) c.4971T>G (p.Pro1657=) c.4893T>G (p.Pro1631=) c.4869T>G (p.Pro1623=) | |
| 14 | g.74500998A>G | CA487155777 | LTBP2 | c.5352T>C (p.Pro1784=) c.*131T>C (n.*131T>C) n.570T>C c.5220T>C (p.Pro1740=) c.4971T>C (p.Pro1657=) c.4893T>C (p.Pro1631=) c.4869T>C (p.Pro1623=) | |
| 14 | g.74500998A>T | CA487155778 | LTBP2 | c.5352T>A (p.Pro1784=) c.*131T>A (n.*131T>A) n.570T>A c.5220T>A (p.Pro1740=) c.4971T>A (p.Pro1657=) c.4893T>A (p.Pro1631=) c.4869T>A (p.Pro1623=) | |
| 14 | g.74500999G>A | CA390382096 | LTBP2 | c.5351C>T (p.Pro1784Leu) c.*130C>T (n.*130C>T) n.569C>T c.5219C>T (p.Pro1740Leu) c.4970C>T (p.Pro1657Leu) c.4892C>T (p.Pro1631Leu) c.4868C>T (p.Pro1623Leu) | |
| 14 | g.74500999G>C | CA390382097 | LTBP2 | c.5351C>G (p.Pro1784Arg) c.*130C>G (n.*130C>G) n.569C>G c.5219C>G (p.Pro1740Arg) c.4970C>G (p.Pro1657Arg) c.4892C>G (p.Pro1631Arg) c.4868C>G (p.Pro1623Arg) | |
| 14 | g.74500999G>T | CA390382098 | LTBP2 | c.5351C>A (p.Pro1784His) c.*130C>A (n.*130C>A) n.569C>A c.5219C>A (p.Pro1740His) c.4970C>A (p.Pro1657His) c.4892C>A (p.Pro1631His) c.4868C>A (p.Pro1623His) | |
| 14 | g.74501000G>A | CA390382099 | LTBP2 | c.5350C>T (p.Pro1784Ser) c.*129C>T (n.*129C>T) n.568C>T c.5218C>T (p.Pro1740Ser) c.4969C>T (p.Pro1657Ser) c.4891C>T (p.Pro1631Ser) c.4867C>T (p.Pro1623Ser) | |
| 14 | g.74501000G>C | CA7268422 | LTBP2 | c.5350C>G (p.Pro1784Ala) c.*129C>G (n.*129C>G) n.568C>G c.5218C>G (p.Pro1740Ala) c.4969C>G (p.Pro1657Ala) c.4891C>G (p.Pro1631Ala) c.4867C>G (p.Pro1623Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501000G= | CA2147073466 | LTBP2 | c.5350C= (p.Pro1784=) c.*129C= (n.*129C=) n.568C= c.5218C= (p.Pro1740=) c.4969C= (p.Pro1657=) c.4891C= (p.Pro1631=) c.4867C= (p.Pro1623=) | |
| 14 | g.74501000G>T | CA390382100 | LTBP2 | c.5350C>A (p.Pro1784Thr) c.*129C>A (n.*129C>A) n.568C>A c.5218C>A (p.Pro1740Thr) c.4969C>A (p.Pro1657Thr) c.4891C>A (p.Pro1631Thr) c.4867C>A (p.Pro1623Thr) | |
| 14 | g.74501000_74501001delinsGC | CA2147073467 | LTBP2 | c.5349_5350delinsGC (p.Gly1783=) c.*128_*129delinsGC (n.*128_*129delinsGC) n.567_568delinsGC c.5217_5218delinsGC (p.Gly1739=) c.4968_4969delinsGC (p.Gly1656=) c.4890_4891delinsGC (p.Gly1630=) c.4866_4867delinsGC (p.Gly1622=) | |
| 14 | g.74501001C>A | CA487155781 | LTBP2 | c.5349G>T (p.Gly1783=) c.*128G>T (n.*128G>T) n.567G>T c.5217G>T (p.Gly1739=) c.4968G>T (p.Gly1656=) c.4890G>T (p.Gly1630=) c.4866G>T (p.Gly1622=) | gnomAD v4 |
| 14 | g.74501001C= | CA2147073468 | LTBP2 | c.5349G= (p.Gly1783=) c.*128G= (n.*128G=) n.567G= c.5217G= (p.Gly1739=) c.4968G= (p.Gly1656=) c.4890G= (p.Gly1630=) c.4866G= (p.Gly1622=) | |
| 14 | g.74501001C>G | CA487155780 | LTBP2 | c.5349G>C (p.Gly1783=) c.*128G>C (n.*128G>C) n.567G>C c.5217G>C (p.Gly1739=) c.4968G>C (p.Gly1656=) c.4890G>C (p.Gly1630=) c.4866G>C (p.Gly1622=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501001C>T | CA487155779 | LTBP2 | c.5349G>A (p.Gly1783=) c.*128G>A (n.*128G>A) n.567G>A c.5217G>A (p.Gly1739=) c.4968G>A (p.Gly1656=) c.4890G>A (p.Gly1630=) c.4866G>A (p.Gly1622=) | dbSNP |
| 14 | g.74501003del | CA708513157 | LTBP2 | c.5349del (p.Pro1784LeufsTer?) c.*128del (n.*128del) n.567del c.5217del (p.Pro1740LeufsTer?) c.4968del (p.Pro1657LeufsTer?) c.4890del (p.Pro1631LeufsTer?) c.4866del (p.Pro1623LeufsTer?) | dbSNP |
| 14 | g.74501002C>A | CA390382101 | LTBP2 | c.5348G>T (p.Gly1783Val) c.*127G>T (n.*127G>T) n.566G>T c.5216G>T (p.Gly1739Val) c.4967G>T (p.Gly1656Val) c.4889G>T (p.Gly1630Val) c.4865G>T (p.Gly1622Val) | |
| 14 | g.74501002C>G | CA390382102 | LTBP2 | c.5348G>C (p.Gly1783Ala) c.*127G>C (n.*127G>C) n.566G>C c.5216G>C (p.Gly1739Ala) c.4967G>C (p.Gly1656Ala) c.4889G>C (p.Gly1630Ala) c.4865G>C (p.Gly1622Ala) | |
| 14 | g.74501002C>T | CA390382103 | LTBP2 | c.5348G>A (p.Gly1783Glu) c.*127G>A (n.*127G>A) n.566G>A c.5216G>A (p.Gly1739Glu) c.4967G>A (p.Gly1656Glu) c.4889G>A (p.Gly1630Glu) c.4865G>A (p.Gly1622Glu) | gnomAD v4 |
| 14 | g.74501003C>A | CA7268423 | LTBP2 | c.5347G>T (p.Gly1783Trp) c.*126G>T (n.*126G>T) n.565G>T c.5215G>T (p.Gly1739Trp) c.4966G>T (p.Gly1656Trp) c.4888G>T (p.Gly1630Trp) c.4864G>T (p.Gly1622Trp) | dbSNP ExAC |
| 14 | g.74501003C= | CA2147073469 | LTBP2 | c.5347G= (p.Gly1783=) c.*126G= (n.*126G=) n.565G= c.5215G= (p.Gly1739=) c.4966G= (p.Gly1656=) c.4888G= (p.Gly1630=) c.4864G= (p.Gly1622=) | |
| 14 | g.74501003C>G | CA7268425 | LTBP2 | c.5347G>C (p.Gly1783Arg) c.*126G>C (n.*126G>C) n.565G>C c.5215G>C (p.Gly1739Arg) c.4966G>C (p.Gly1656Arg) c.4888G>C (p.Gly1630Arg) c.4864G>C (p.Gly1622Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501003C>T | CA7268424 | LTBP2 | c.5347G>A (p.Gly1783Arg) c.*126G>A (n.*126G>A) n.565G>A c.5215G>A (p.Gly1739Arg) c.4966G>A (p.Gly1656Arg) c.4888G>A (p.Gly1630Arg) c.4864G>A (p.Gly1622Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501004G>A | CA7268426 | LTBP2 | c.5346C>T (p.Asn1782=) c.*125C>T (n.*125C>T) n.564C>T c.5214C>T (p.Asn1738=) c.4965C>T (p.Asn1655=) c.4887C>T (p.Asn1629=) c.4863C>T (p.Asn1621=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501004G>C | CA390382104 | LTBP2 | c.5346C>G (p.Asn1782Lys) c.*125C>G (n.*125C>G) n.564C>G c.5214C>G (p.Asn1738Lys) c.4965C>G (p.Asn1655Lys) c.4887C>G (p.Asn1629Lys) c.4863C>G (p.Asn1621Lys) | gnomAD v4 |
| 14 | g.74501004G= | CA2147073470 | LTBP2 | c.5346C= (p.Asn1782=) c.*125C= (n.*125C=) n.564C= c.5214C= (p.Asn1738=) c.4965C= (p.Asn1655=) c.4887C= (p.Asn1629=) c.4863C= (p.Asn1621=) | |
| 14 | g.74501004G>T | CA390382105 | LTBP2 | c.5346C>A (p.Asn1782Lys) c.*125C>A (n.*125C>A) n.564C>A c.5214C>A (p.Asn1738Lys) c.4965C>A (p.Asn1655Lys) c.4887C>A (p.Asn1629Lys) c.4863C>A (p.Asn1621Lys) | |
| 14 | g.74501005T>A | CA390382106 | LTBP2 | c.5345A>T (p.Asn1782Ile) c.*124A>T (n.*124A>T) n.563A>T c.5213A>T (p.Asn1738Ile) c.4964A>T (p.Asn1655Ile) c.4886A>T (p.Asn1629Ile) c.4862A>T (p.Asn1621Ile) | |
| 14 | g.74501005T>C | CA390382107 | LTBP2 | c.5345A>G (p.Asn1782Ser) c.*124A>G (n.*124A>G) n.563A>G c.5213A>G (p.Asn1738Ser) c.4964A>G (p.Asn1655Ser) c.4886A>G (p.Asn1629Ser) c.4862A>G (p.Asn1621Ser) | COSMIC |
| 14 | g.74501005T>G | CA390382108 | LTBP2 | c.5345A>C (p.Asn1782Thr) c.*124A>C (n.*124A>C) n.563A>C c.5213A>C (p.Asn1738Thr) c.4964A>C (p.Asn1655Thr) c.4886A>C (p.Asn1629Thr) c.4862A>C (p.Asn1621Thr) | dbSNP |
| 14 | g.74501005T= | CA2147073471 | LTBP2 | c.5345A= (p.Asn1782=) c.*124A= (n.*124A=) n.563A= c.5213A= (p.Asn1738=) c.4964A= (p.Asn1655=) c.4886A= (p.Asn1629=) c.4862A= (p.Asn1621=) | |
| 14 | g.74501006T>A | CA390382109 | LTBP2 | c.5344A>T (p.Asn1782Tyr) c.*123A>T (n.*123A>T) n.562A>T c.5212A>T (p.Asn1738Tyr) c.4963A>T (p.Asn1655Tyr) c.4885A>T (p.Asn1629Tyr) c.4861A>T (p.Asn1621Tyr) | |
| 14 | g.74501006T>C | CA390382110 | LTBP2 | c.5344A>G (p.Asn1782Asp) c.*123A>G (n.*123A>G) n.562A>G c.5212A>G (p.Asn1738Asp) c.4963A>G (p.Asn1655Asp) c.4885A>G (p.Asn1629Asp) c.4861A>G (p.Asn1621Asp) | |
| 14 | g.74501006T>G | CA390382111 | LTBP2 | c.5344A>C (p.Asn1782His) c.*123A>C (n.*123A>C) n.562A>C c.5212A>C (p.Asn1738His) c.4963A>C (p.Asn1655His) c.4885A>C (p.Asn1629His) c.4861A>C (p.Asn1621His) | |
| 14 | g.74501007C>A | CA390382112 | LTBP2 | c.5343G>T (p.Leu1781Phe) c.*122G>T (n.*122G>T) n.561G>T c.5211G>T (p.Leu1737Phe) c.4962G>T (p.Leu1654Phe) c.4884G>T (p.Leu1628Phe) c.4860G>T (p.Leu1620Phe) | |
| 14 | g.74501007C= | CA2147073472 | LTBP2 | c.5343G= (p.Leu1781=) c.*122G= (n.*122G=) n.561G= c.5211G= (p.Leu1737=) c.4962G= (p.Leu1654=) c.4884G= (p.Leu1628=) c.4860G= (p.Leu1620=) | |
| 14 | g.74501007C>G | CA7268427 | LTBP2 | c.5343G>C (p.Leu1781Phe) c.*122G>C (n.*122G>C) n.561G>C c.5211G>C (p.Leu1737Phe) c.4962G>C (p.Leu1654Phe) c.4884G>C (p.Leu1628Phe) c.4860G>C (p.Leu1620Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501007C>T | CA487155782 | LTBP2 | c.5343G>A (p.Leu1781=) c.*122G>A (n.*122G>A) n.561G>A c.5211G>A (p.Leu1737=) c.4962G>A (p.Leu1654=) c.4884G>A (p.Leu1628=) c.4860G>A (p.Leu1620=) | |
| 14 | g.74501008A>C | CA390382113 | LTBP2 | c.5342T>G (p.Leu1781Trp) c.*121T>G (n.*121T>G) n.560T>G c.5210T>G (p.Leu1737Trp) c.4961T>G (p.Leu1654Trp) c.4883T>G (p.Leu1628Trp) c.4859T>G (p.Leu1620Trp) | gnomAD v4 |
| 14 | g.74501008A>G | CA390382114 | LTBP2 | c.5342T>C (p.Leu1781Ser) c.*121T>C (n.*121T>C) n.560T>C c.5210T>C (p.Leu1737Ser) c.4961T>C (p.Leu1654Ser) c.4883T>C (p.Leu1628Ser) c.4859T>C (p.Leu1620Ser) | |
| 14 | g.74501008A>T | CA390382115 | LTBP2 | c.5342T>A (p.Leu1781Ter) c.*121T>A (n.*121T>A) n.560T>A c.5210T>A (p.Leu1737Ter) c.4961T>A (p.Leu1654Ter) c.4883T>A (p.Leu1628Ter) c.4859T>A (p.Leu1620Ter) | |
| 14 | g.74501008_74501009insCCCTTTCTCATCAACTCCACGTATTTTTCATCATGTCCTCTTGCTGCTTTCTC | CA2625672218 | LTBP2 | c.5341_5342insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (p.Leu1781Ter) c.*120_*121insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (n.*120_*121insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG) n.559_560insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG c.5209_5210insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (p.Leu1737Ter) c.4960_4961insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (p.Leu1654Ter) c.4882_4883insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (p.Leu1628Ter) c.4858_4859insGAGAAAGCAGCAAGAGGACATGATGAAAAATACGTGGAGTTGATGAGAAAGGG (p.Leu1620Ter) | gnomAD v4 |
| 14 | g.74501009A= | CA2147073473 | LTBP2 | c.5341T= (p.Leu1781=) c.*120T= (n.*120T=) n.559T= c.5209T= (p.Leu1737=) c.4960T= (p.Leu1654=) c.4882T= (p.Leu1628=) c.4858T= (p.Leu1620=) | |
| 14 | g.74501009A>C | CA390382116 | LTBP2 | c.5341T>G (p.Leu1781Val) c.*120T>G (n.*120T>G) n.559T>G c.5209T>G (p.Leu1737Val) c.4960T>G (p.Leu1654Val) c.4882T>G (p.Leu1628Val) c.4858T>G (p.Leu1620Val) | |
| 14 | g.74501009A>G | CA487155783 | LTBP2 | c.5341T>C (p.Leu1781=) c.*120T>C (n.*120T>C) n.559T>C c.5209T>C (p.Leu1737=) c.4960T>C (p.Leu1654=) c.4882T>C (p.Leu1628=) c.4858T>C (p.Leu1620=) | gnomAD v4 |
| 14 | g.74501009A>T | CA390382117 | LTBP2 | c.5341T>A (p.Leu1781Met) c.*120T>A (n.*120T>A) n.559T>A c.5209T>A (p.Leu1737Met) c.4960T>A (p.Leu1654Met) c.4882T>A (p.Leu1628Met) c.4858T>A (p.Leu1620Met) | |
| 14 | g.74501009_74501010insTTCCTGTAAGAAGCAGTGTTTATGTAATAGAGGTCTTTGTAGATGG | CA7268428 | LTBP2 | c.5340_5341insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (p.Leu1781ProfsTer9) c.*119_*120insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (n.*119_*120insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA) n.558_559insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA c.5208_5209insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (p.Leu1737ProfsTer9) c.4959_4960insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (p.Leu1654ProfsTer9) c.4881_4882insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (p.Leu1628ProfsTer9) c.4857_4858insCCATCTACAAAGACCTCTATTACATAAACACTGCTTCTTACAGGAA (p.Leu1620ProfsTer9) | dbSNP ExAC |
| 14 | g.74501010G>A | CA487155784 | LTBP2 | c.5340C>T (p.Asp1780=) c.*119C>T (n.*119C>T) n.558C>T c.5208C>T (p.Asp1736=) c.4959C>T (p.Asp1653=) c.4881C>T (p.Asp1627=) c.4857C>T (p.Asp1619=) | gnomAD v4 |
| 14 | g.74501010G>C | CA390382118 | LTBP2 | c.5340C>G (p.Asp1780Glu) c.*119C>G (n.*119C>G) n.558C>G c.5208C>G (p.Asp1736Glu) c.4959C>G (p.Asp1653Glu) c.4881C>G (p.Asp1627Glu) c.4857C>G (p.Asp1619Glu) | |
| 14 | g.74501010G>T | CA390382119 | LTBP2 | c.5340C>A (p.Asp1780Glu) c.*119C>A (n.*119C>A) n.558C>A c.5208C>A (p.Asp1736Glu) c.4959C>A (p.Asp1653Glu) c.4881C>A (p.Asp1627Glu) c.4857C>A (p.Asp1619Glu) | |
| 14 | g.74501011T>A | CA390382120 | LTBP2 | c.5339A>T (p.Asp1780Val) c.*118A>T (n.*118A>T) n.557A>T c.5207A>T (p.Asp1736Val) c.4958A>T (p.Asp1653Val) c.4880A>T (p.Asp1627Val) c.4856A>T (p.Asp1619Val) | |
| 14 | g.74501011T>C | CA390382121 | LTBP2 | c.5339A>G (p.Asp1780Gly) c.*118A>G (n.*118A>G) n.557A>G c.5207A>G (p.Asp1736Gly) c.4958A>G (p.Asp1653Gly) c.4880A>G (p.Asp1627Gly) c.4856A>G (p.Asp1619Gly) | |
| 14 | g.74501011T>G | CA390382122 | LTBP2 | c.5339A>C (p.Asp1780Ala) c.*118A>C (n.*118A>C) n.557A>C c.5207A>C (p.Asp1736Ala) c.4958A>C (p.Asp1653Ala) c.4880A>C (p.Asp1627Ala) c.4856A>C (p.Asp1619Ala) | |
| 14 | g.74501012C>A | CA390382123 | LTBP2 | c.5338G>T (p.Asp1780Tyr) c.*117G>T (n.*117G>T) n.556G>T c.5206G>T (p.Asp1736Tyr) c.4957G>T (p.Asp1653Tyr) c.4879G>T (p.Asp1627Tyr) c.4855G>T (p.Asp1619Tyr) | |
| 14 | g.74501012C>G | CA390382124 | LTBP2 | c.5338G>C (p.Asp1780His) c.*117G>C (n.*117G>C) n.556G>C c.5206G>C (p.Asp1736His) c.4957G>C (p.Asp1653His) c.4879G>C (p.Asp1627His) c.4855G>C (p.Asp1619His) | |
| 14 | g.74501012C>T | CA390382125 | LTBP2 | c.5338G>A (p.Asp1780Asn) c.*117G>A (n.*117G>A) n.556G>A c.5206G>A (p.Asp1736Asn) c.4957G>A (p.Asp1653Asn) c.4879G>A (p.Asp1627Asn) c.4855G>A (p.Asp1619Asn) | COSMIC |
| 14 | g.74501013A= | CA2147073474 | LTBP2 | c.5337T= (p.Asp1779=) c.*116T= (n.*116T=) n.555T= c.5205T= (p.Asp1735=) c.4956T= (p.Asp1652=) c.4878T= (p.Asp1626=) c.4854T= (p.Asp1618=) | |
| 14 | g.74501013A>C | CA390382126 | LTBP2 | c.5337T>G (p.Asp1779Glu) c.*116T>G (n.*116T>G) n.555T>G c.5205T>G (p.Asp1735Glu) c.4956T>G (p.Asp1652Glu) c.4878T>G (p.Asp1626Glu) c.4854T>G (p.Asp1618Glu) | |
| 14 | g.74501013A>G | CA487155785 | LTBP2 | c.5337T>C (p.Asp1779=) c.*116T>C (n.*116T>C) n.555T>C c.5205T>C (p.Asp1735=) c.4956T>C (p.Asp1652=) c.4878T>C (p.Asp1626=) c.4854T>C (p.Asp1618=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501013A>T | CA7268429 | LTBP2 | c.5337T>A (p.Asp1779Glu) c.*116T>A (n.*116T>A) n.555T>A c.5205T>A (p.Asp1735Glu) c.4956T>A (p.Asp1652Glu) c.4878T>A (p.Asp1626Glu) c.4854T>A (p.Asp1618Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501014T>A | CA390382127 | LTBP2 | c.5336A>T (p.Asp1779Val) c.*115A>T (n.*115A>T) n.554A>T c.5204A>T (p.Asp1735Val) c.4955A>T (p.Asp1652Val) c.4877A>T (p.Asp1626Val) c.4853A>T (p.Asp1618Val) | |
| 14 | g.74501014T>C | CA390382129 | LTBP2 | c.5336A>G (p.Asp1779Gly) c.*115A>G (n.*115A>G) n.554A>G c.5204A>G (p.Asp1735Gly) c.4955A>G (p.Asp1652Gly) c.4877A>G (p.Asp1626Gly) c.4853A>G (p.Asp1618Gly) | |
| 14 | g.74501014T>G | CA390382128 | LTBP2 | c.5336A>C (p.Asp1779Ala) c.*115A>C (n.*115A>C) n.554A>C c.5204A>C (p.Asp1735Ala) c.4955A>C (p.Asp1652Ala) c.4877A>C (p.Asp1626Ala) c.4853A>C (p.Asp1618Ala) | |
| 14 | g.74501015C>A | CA263577405 | LTBP2 | c.5335G>T (p.Asp1779Tyr) c.*114G>T (n.*114G>T) n.553G>T c.5203G>T (p.Asp1735Tyr) c.4954G>T (p.Asp1652Tyr) c.4876G>T (p.Asp1626Tyr) c.4852G>T (p.Asp1618Tyr) | dbSNP |
| 14 | g.74501015C= | CA2147073475 | LTBP2 | c.5335G= (p.Asp1779=) c.*114G= (n.*114G=) n.553G= c.5203G= (p.Asp1735=) c.4954G= (p.Asp1652=) c.4876G= (p.Asp1626=) c.4852G= (p.Asp1618=) | |
| 14 | g.74501015C>G | CA390382131 | LTBP2 | c.5335G>C (p.Asp1779His) c.*114G>C (n.*114G>C) n.553G>C c.5203G>C (p.Asp1735His) c.4954G>C (p.Asp1652His) c.4876G>C (p.Asp1626His) c.4852G>C (p.Asp1618His) | |
| 14 | g.74501015C>T | CA390382130 | LTBP2 | c.5335G>A (p.Asp1779Asn) c.*114G>A (n.*114G>A) n.553G>A c.5203G>A (p.Asp1735Asn) c.4954G>A (p.Asp1652Asn) c.4876G>A (p.Asp1626Asn) c.4852G>A (p.Asp1618Asn) | |
| 14 | g.74501016A>C | CA390382132 | LTBP2 | c.5334T>G (p.Cys1778Trp) c.*113T>G (n.*113T>G) n.552T>G c.5202T>G (p.Cys1734Trp) c.4953T>G (p.Cys1651Trp) c.4875T>G (p.Cys1625Trp) c.4851T>G (p.Cys1617Trp) | |
| 14 | g.74501016A>G | CA487155787 | LTBP2 | c.5334T>C (p.Cys1778=) c.*113T>C (n.*113T>C) n.552T>C c.5202T>C (p.Cys1734=) c.4953T>C (p.Cys1651=) c.4875T>C (p.Cys1625=) c.4851T>C (p.Cys1617=) | |
| 14 | g.74501016A>T | CA390382133 | LTBP2 | c.5334T>A (p.Cys1778Ter) c.*113T>A (n.*113T>A) n.552T>A c.5202T>A (p.Cys1734Ter) c.4953T>A (p.Cys1651Ter) c.4875T>A (p.Cys1625Ter) c.4851T>A (p.Cys1617Ter) | |
| 14 | g.74501017C>A | CA7268430 | LTBP2 | c.5333G>T (p.Cys1778Phe) c.*112G>T (n.*112G>T) n.551G>T c.5201G>T (p.Cys1734Phe) c.4952G>T (p.Cys1651Phe) c.4874G>T (p.Cys1625Phe) c.4850G>T (p.Cys1617Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501017C= | CA2147073476 | LTBP2 | c.5333G= (p.Cys1778=) c.*112G= (n.*112G=) n.551G= c.5201G= (p.Cys1734=) c.4952G= (p.Cys1651=) c.4874G= (p.Cys1625=) c.4850G= (p.Cys1617=) | |
| 14 | g.74501017C>G | CA390382134 | LTBP2 | c.5333G>C (p.Cys1778Ser) c.*112G>C (n.*112G>C) n.551G>C c.5201G>C (p.Cys1734Ser) c.4952G>C (p.Cys1651Ser) c.4874G>C (p.Cys1625Ser) c.4850G>C (p.Cys1617Ser) | |
| 14 | g.74501017C>T | CA390382135 | LTBP2 | c.5333G>A (p.Cys1778Tyr) c.*112G>A (n.*112G>A) n.551G>A c.5201G>A (p.Cys1734Tyr) c.4952G>A (p.Cys1651Tyr) c.4874G>A (p.Cys1625Tyr) c.4850G>A (p.Cys1617Tyr) | |
| 14 | g.74501018A>C | CA390382136 | LTBP2 | c.5332T>G (p.Cys1778Gly) c.*111T>G (n.*111T>G) n.550T>G c.5200T>G (p.Cys1734Gly) c.4951T>G (p.Cys1651Gly) c.4873T>G (p.Cys1625Gly) c.4849T>G (p.Cys1617Gly) | |
| 14 | g.74501018A>G | CA390382137 | LTBP2 | c.5332T>C (p.Cys1778Arg) c.*111T>C (n.*111T>C) n.550T>C c.5200T>C (p.Cys1734Arg) c.4951T>C (p.Cys1651Arg) c.4873T>C (p.Cys1625Arg) c.4849T>C (p.Cys1617Arg) | |
| 14 | g.74501018A>T | CA390382138 | LTBP2 | c.5332T>A (p.Cys1778Ser) c.*111T>A (n.*111T>A) n.550T>A c.5200T>A (p.Cys1734Ser) c.4951T>A (p.Cys1651Ser) c.4873T>A (p.Cys1625Ser) c.4849T>A (p.Cys1617Ser) | |
| 14 | g.74501019C>A | CA390382139 | LTBP2 | c.5331G>T (p.Glu1777Asp) c.*110G>T (n.*110G>T) n.549G>T c.5199G>T (p.Glu1733Asp) c.4950G>T (p.Glu1650Asp) c.4872G>T (p.Glu1624Asp) c.4848G>T (p.Glu1616Asp) | |
| 14 | g.74501019C>G | CA390382140 | LTBP2 | c.5331G>C (p.Glu1777Asp) c.*110G>C (n.*110G>C) n.549G>C c.5199G>C (p.Glu1733Asp) c.4950G>C (p.Glu1650Asp) c.4872G>C (p.Glu1624Asp) c.4848G>C (p.Glu1616Asp) | |
| 14 | g.74501019C>T | CA487155788 | LTBP2 | c.5331G>A (p.Glu1777=) c.*110G>A (n.*110G>A) n.549G>A c.5199G>A (p.Glu1733=) c.4950G>A (p.Glu1650=) c.4872G>A (p.Glu1624=) c.4848G>A (p.Glu1616=) | gnomAD v4 |
| 14 | g.74501019_74501023delinsCTCAT | CA2147073477 | LTBP2 | c.5327_5331delinsATGAG (p.Asn1776=) c.*106_*110delinsATGAG (n.*106_*110delinsATGAG) n.545_549delinsATGAG c.5195_5199delinsATGAG (p.Asn1732=) c.4946_4950delinsATGAG (p.Asn1649=) c.4868_4872delinsATGAG (p.Asn1623=) c.4844_4848delinsATGAG (p.Asn1615=) | |
| 14 | g.74501020T>A | CA390382141 | LTBP2 | c.5330A>T (p.Glu1777Val) c.*109A>T (n.*109A>T) n.548A>T c.5198A>T (p.Glu1733Val) c.4949A>T (p.Glu1650Val) c.4871A>T (p.Glu1624Val) c.4847A>T (p.Glu1616Val) | |
| 14 | g.74501020T>C | CA390382142 | LTBP2 | c.5330A>G (p.Glu1777Gly) c.*109A>G (n.*109A>G) n.548A>G c.5198A>G (p.Glu1733Gly) c.4949A>G (p.Glu1650Gly) c.4871A>G (p.Glu1624Gly) c.4847A>G (p.Glu1616Gly) | |
| 14 | g.74501020T>G | CA390382143 | LTBP2 | c.5330A>C (p.Glu1777Ala) c.*109A>C (n.*109A>C) n.548A>C c.5198A>C (p.Glu1733Ala) c.4949A>C (p.Glu1650Ala) c.4871A>C (p.Glu1624Ala) c.4847A>C (p.Glu1616Ala) | |
| 14 | g.74501023_74501026del | CA615024592 | LTBP2 | c.5327_5330del (p.Asn1776SerfsTer5) c.*106_*109del (n.*106_*109del) n.545_548del c.5195_5198del (p.Asn1732SerfsTer5) c.4946_4949del (p.Asn1649SerfsTer5) c.4868_4871del (p.Asn1623SerfsTer5) c.4844_4847del (p.Asn1615SerfsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501020_74501021insAGA | CA2802156143 | LTBP2 | c.5329_5330insTCT (p.Glu1777ValfsTer2) c.*108_*109insTCT (n.*108_*109insTCT) n.547_548insTCT c.5197_5198insTCT (p.Glu1733ValfsTer2) c.4948_4949insTCT (p.Glu1650ValfsTer2) c.4870_4871insTCT (p.Glu1624ValfsTer2) c.4846_4847insTCT (p.Glu1616ValfsTer2) | |
| 14 | g.74501021C>A | CA390382146 | LTBP2 | c.5329G>T (p.Glu1777Ter) c.*108G>T (n.*108G>T) n.547G>T c.5197G>T (p.Glu1733Ter) c.4948G>T (p.Glu1650Ter) c.4870G>T (p.Glu1624Ter) c.4846G>T (p.Glu1616Ter) | |
| 14 | g.74501021C>G | CA390382145 | LTBP2 | c.5329G>C (p.Glu1777Gln) c.*108G>C (n.*108G>C) n.547G>C c.5197G>C (p.Glu1733Gln) c.4948G>C (p.Glu1650Gln) c.4870G>C (p.Glu1624Gln) c.4846G>C (p.Glu1616Gln) | |
| 14 | g.74501021C>T | CA390382144 | LTBP2 | c.5329G>A (p.Glu1777Lys) c.*108G>A (n.*108G>A) n.547G>A c.5197G>A (p.Glu1733Lys) c.4948G>A (p.Glu1650Lys) c.4870G>A (p.Glu1624Lys) c.4846G>A (p.Glu1616Lys) | |
| 14 | g.74501022A= | CA2147073478 | LTBP2 | c.5328T= (p.Asn1776=) c.*107T= (n.*107T=) n.546T= c.5196T= (p.Asn1732=) c.4947T= (p.Asn1649=) c.4869T= (p.Asn1623=) c.4845T= (p.Asn1615=) | |
| 14 | g.74501022A>C | CA390382147 | LTBP2 | c.5328T>G (p.Asn1776Lys) c.*107T>G (n.*107T>G) n.546T>G c.5196T>G (p.Asn1732Lys) c.4947T>G (p.Asn1649Lys) c.4869T>G (p.Asn1623Lys) c.4845T>G (p.Asn1615Lys) | gnomAD v4 |
| 14 | g.74501022A>G | CA7268431 | LTBP2 | c.5328T>C (p.Asn1776=) c.*107T>C (n.*107T>C) n.546T>C c.5196T>C (p.Asn1732=) c.4947T>C (p.Asn1649=) c.4869T>C (p.Asn1623=) c.4845T>C (p.Asn1615=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501022A>T | CA390382148 | LTBP2 | c.5328T>A (p.Asn1776Lys) c.*107T>A (n.*107T>A) n.546T>A c.5196T>A (p.Asn1732Lys) c.4947T>A (p.Asn1649Lys) c.4869T>A (p.Asn1623Lys) c.4845T>A (p.Asn1615Lys) | |
| 14 | g.74501023T>A | CA390382149 | LTBP2 | c.5327A>T (p.Asn1776Ile) c.*106A>T (n.*106A>T) n.545A>T c.5195A>T (p.Asn1732Ile) c.4946A>T (p.Asn1649Ile) c.4868A>T (p.Asn1623Ile) c.4844A>T (p.Asn1615Ile) | |
| 14 | g.74501023T>C | CA390382150 | LTBP2 | c.5327A>G (p.Asn1776Ser) c.*106A>G (n.*106A>G) n.545A>G c.5195A>G (p.Asn1732Ser) c.4946A>G (p.Asn1649Ser) c.4868A>G (p.Asn1623Ser) c.4844A>G (p.Asn1615Ser) | |
| 14 | g.74501023T>G | CA390382151 | LTBP2 | c.5327A>C (p.Asn1776Thr) c.*106A>C (n.*106A>C) n.545A>C c.5195A>C (p.Asn1732Thr) c.4946A>C (p.Asn1649Thr) c.4868A>C (p.Asn1623Thr) c.4844A>C (p.Asn1615Thr) | |
| 14 | g.74501024T>A | CA390382152 | LTBP2 | c.5326A>T (p.Asn1776Tyr) c.*105A>T (n.*105A>T) n.544A>T c.5194A>T (p.Asn1732Tyr) c.4945A>T (p.Asn1649Tyr) c.4867A>T (p.Asn1623Tyr) c.4843A>T (p.Asn1615Tyr) | |
| 14 | g.74501024T>C | CA390382153 | LTBP2 | c.5326A>G (p.Asn1776Asp) c.*105A>G (n.*105A>G) n.544A>G c.5194A>G (p.Asn1732Asp) c.4945A>G (p.Asn1649Asp) c.4867A>G (p.Asn1623Asp) c.4843A>G (p.Asn1615Asp) | |
| 14 | g.74501024T>G | CA390382154 | LTBP2 | c.5326A>C (p.Asn1776His) c.*105A>C (n.*105A>C) n.544A>C c.5194A>C (p.Asn1732His) c.4945A>C (p.Asn1649His) c.4867A>C (p.Asn1623His) c.4843A>C (p.Asn1615His) | |
| 14 | g.74501024_74501027dup | CA2625672220 | LTBP2 | c.5323_5326dup (p.Asn1776SerfsTer3) c.*102_*105dup (n.*102_*105dup) n.541_544dup c.5191_5194dup (p.Asn1732SerfsTer3) c.4942_4945dup (p.Asn1649SerfsTer3) c.4864_4867dup (p.Asn1623SerfsTer3) c.4840_4843dup (p.Asn1615SerfsTer3) | gnomAD v4 |
| 14 | g.74501025C>A | CA487155789 | LTBP2 | c.5325G>T (p.Val1775=) c.*104G>T (n.*104G>T) n.543G>T c.5193G>T (p.Val1731=) c.4944G>T (p.Val1648=) c.4866G>T (p.Val1622=) c.4842G>T (p.Val1614=) | |
| 14 | g.74501025C>G | CA487155790 | LTBP2 | c.5325G>C (p.Val1775=) c.*104G>C (n.*104G>C) n.543G>C c.5193G>C (p.Val1731=) c.4944G>C (p.Val1648=) c.4866G>C (p.Val1622=) c.4842G>C (p.Val1614=) | |
| 14 | g.74501025C>T | CA487155791 | LTBP2 | c.5325G>A (p.Val1775=) c.*104G>A (n.*104G>A) n.543G>A c.5193G>A (p.Val1731=) c.4944G>A (p.Val1648=) c.4866G>A (p.Val1622=) c.4842G>A (p.Val1614=) | |
| 14 | g.74501025_74501032del | CA2802156144 | LTBP2 | c.5321-3_5325del c.*100-3_*104del n.539-3_543del c.5189-3_5193del c.4940-3_4944del c.4862-3_4866del c.4838-3_4842del | |
| 14 | g.74501026A>C | CA390382155 | LTBP2 | c.5324T>G (p.Val1775Gly) c.*103T>G (n.*103T>G) n.542T>G c.5192T>G (p.Val1731Gly) c.4943T>G (p.Val1648Gly) c.4865T>G (p.Val1622Gly) c.4841T>G (p.Val1614Gly) | |
| 14 | g.74501026A>G | CA390382156 | LTBP2 | c.5324T>C (p.Val1775Ala) c.*103T>C (n.*103T>C) n.542T>C c.5192T>C (p.Val1731Ala) c.4943T>C (p.Val1648Ala) c.4865T>C (p.Val1622Ala) c.4841T>C (p.Val1614Ala) | COSMIC |
| 14 | g.74501026A>T | CA390382157 | LTBP2 | c.5324T>A (p.Val1775Glu) c.*103T>A (n.*103T>A) n.542T>A c.5192T>A (p.Val1731Glu) c.4943T>A (p.Val1648Glu) c.4865T>A (p.Val1622Glu) c.4841T>A (p.Val1614Glu) | |
| 14 | g.74501027C>A | CA390382160 | LTBP2 | c.5323G>T (p.Val1775Leu) c.*102G>T (n.*102G>T) n.541G>T c.5191G>T (p.Val1731Leu) c.4942G>T (p.Val1648Leu) c.4864G>T (p.Val1622Leu) c.4840G>T (p.Val1614Leu) | |
| 14 | g.74501027C= | CA2147073479 | LTBP2 | c.5323G= (p.Val1775=) c.*102G= (n.*102G=) n.541G= c.5191G= (p.Val1731=) c.4942G= (p.Val1648=) c.4864G= (p.Val1622=) c.4840G= (p.Val1614=) | |
| 14 | g.74501027C>G | CA390382159 | LTBP2 | c.5323G>C (p.Val1775Leu) c.*102G>C (n.*102G>C) n.541G>C c.5191G>C (p.Val1731Leu) c.4942G>C (p.Val1648Leu) c.4864G>C (p.Val1622Leu) c.4840G>C (p.Val1614Leu) | |
| 14 | g.74501027C>T | CA390382158 | LTBP2 | c.5323G>A (p.Val1775Met) c.*102G>A (n.*102G>A) n.541G>A c.5191G>A (p.Val1731Met) c.4942G>A (p.Val1648Met) c.4864G>A (p.Val1622Met) c.4840G>A (p.Val1614Met) | dbSNP gnomAD v4 |
| 14 | g.74501028A>C | CA390382161 | LTBP2 | c.5322T>G (p.Asp1774Glu) c.*101T>G (n.*101T>G) n.540T>G c.5190T>G (p.Asp1730Glu) c.4941T>G (p.Asp1647Glu) c.4863T>G (p.Asp1621Glu) c.4839T>G (p.Asp1613Glu) | |
| 14 | g.74501028A>G | CA487155792 | LTBP2 | c.5322T>C (p.Asp1774=) c.*101T>C (n.*101T>C) n.540T>C c.5190T>C (p.Asp1730=) c.4941T>C (p.Asp1647=) c.4863T>C (p.Asp1621=) c.4839T>C (p.Asp1613=) | gnomAD v4 |
| 14 | g.74501028A>T | CA390382162 | LTBP2 | c.5322T>A (p.Asp1774Glu) c.*101T>A (n.*101T>A) n.540T>A c.5190T>A (p.Asp1730Glu) c.4941T>A (p.Asp1647Glu) c.4863T>A (p.Asp1621Glu) c.4839T>A (p.Asp1613Glu) | gnomAD v4 |
| 14 | g.74501029T>A | CA390382163 | LTBP2 | c.5321A>T (p.Asp1774Val) c.*100A>T (n.*100A>T) n.539A>T c.5189A>T (p.Asp1730Val) c.4940A>T (p.Asp1647Val) c.4862A>T (p.Asp1621Val) c.4838A>T (p.Asp1613Val) | |
| 14 | g.74501029T>C | CA390382164 | LTBP2 | c.5321A>G (p.Asp1774Gly) c.*100A>G (n.*100A>G) n.539A>G c.5189A>G (p.Asp1730Gly) c.4940A>G (p.Asp1647Gly) c.4862A>G (p.Asp1621Gly) c.4838A>G (p.Asp1613Gly) | |
| 14 | g.74501029T>G | CA390382165 | LTBP2 | c.5321A>C (p.Asp1774Ala) c.*100A>C (n.*100A>C) n.539A>C c.5189A>C (p.Asp1730Ala) c.4940A>C (p.Asp1647Ala) c.4862A>C (p.Asp1621Ala) c.4838A>C (p.Asp1613Ala) | |
| 14 | g.74501029_74501030insA | CA2802156145 | LTBP2 | c.5321-1_5321insT (n.5321-1_5321insT) c.*100-1_*100insT (n.*100-1_*100insT) n.539-1_539insT c.5189-1_5189insT (n.5189-1_5189insT) c.4940-1_4940insT (n.4940-1_4940insT) c.4862-1_4862insT (n.4862-1_4862insT) c.4838-1_4838insT (n.4838-1_4838insT) | |
| 14 | g.74501030C>A | CA390382166 | LTBP2 | c.5321-1G>T (n.5321-1G>T) c.*100-1G>T (n.*100-1G>T) n.539-1G>T c.5189-1G>T (n.5189-1G>T) c.4940-1G>T (n.4940-1G>T) c.4862-1G>T (n.4862-1G>T) c.4838-1G>T (n.4838-1G>T) | |
| 14 | g.74501030C>G | CA390382167 | LTBP2 | c.5321-1G>C (n.5321-1G>C) c.*100-1G>C (n.*100-1G>C) n.539-1G>C c.5189-1G>C (n.5189-1G>C) c.4940-1G>C (n.4940-1G>C) c.4862-1G>C (n.4862-1G>C) c.4838-1G>C (n.4838-1G>C) | |
| 14 | g.74501030C>T | CA390382168 | LTBP2 | c.5321-1G>A (n.5321-1G>A) c.*100-1G>A (n.*100-1G>A) n.539-1G>A c.5189-1G>A (n.5189-1G>A) c.4940-1G>A (n.4940-1G>A) c.4862-1G>A (n.4862-1G>A) c.4838-1G>A (n.4838-1G>A) | gnomAD v4 |
| 14 | g.74501030_74501032del | CA2802156146 | LTBP2 | c.5321-3_5321-1del (n.5321-3_5321-1del) c.*100-3_*100-1del (n.*100-3_*100-1del) n.539-3_539-1del c.5189-3_5189-1del (n.5189-3_5189-1del) c.4940-3_4940-1del (n.4940-3_4940-1del) c.4862-3_4862-1del (n.4862-3_4862-1del) c.4838-3_4838-1del (n.4838-3_4838-1del) | |
| 14 | g.74501031T>A | CA390382169 | LTBP2 | c.5321-2A>T (n.5321-2A>T) c.*100-2A>T (n.*100-2A>T) n.539-2A>T c.5189-2A>T (n.5189-2A>T) c.4940-2A>T (n.4940-2A>T) c.4862-2A>T (n.4862-2A>T) c.4838-2A>T (n.4838-2A>T) | gnomAD v4 |
| 14 | g.74501031T>C | CA390382170 | LTBP2 | c.5321-2A>G (n.5321-2A>G) c.*100-2A>G (n.*100-2A>G) n.539-2A>G c.5189-2A>G (n.5189-2A>G) c.4940-2A>G (n.4940-2A>G) c.4862-2A>G (n.4862-2A>G) c.4838-2A>G (n.4838-2A>G) | |
| 14 | g.74501031T>G | CA390382171 | LTBP2 | c.5321-2A>C (n.5321-2A>C) c.*100-2A>C (n.*100-2A>C) n.539-2A>C c.5189-2A>C (n.5189-2A>C) c.4940-2A>C (n.4940-2A>C) c.4862-2A>C (n.4862-2A>C) c.4838-2A>C (n.4838-2A>C) | |
| 14 | g.74501033A>G | CA2575576828 | LTBP2 | c.5321-4T>C (n.5321-4T>C) c.*100-4T>C (n.*100-4T>C) n.539-4T>C c.5189-4T>C (n.5189-4T>C) c.4940-4T>C (n.4940-4T>C) c.4862-4T>C (n.4862-4T>C) c.4838-4T>C (n.4838-4T>C) | gnomAD v4 |
| 14 | g.74501035_74501036del | CA2575576827 | LTBP2 | c.5321-5_5321-4del (n.5321-5_5321-4del) c.*100-5_*100-4del (n.*100-5_*100-4del) n.539-5_539-4del c.5189-5_5189-4del (n.5189-5_5189-4del) c.4940-5_4940-4del (n.4940-5_4940-4del) c.4862-5_4862-4del (n.4862-5_4862-4del) c.4838-5_4838-4del (n.4838-5_4838-4del) | |
| 14 | g.74501034G>C | CA615024597 | LTBP2 | c.5321-5C>G (n.5321-5C>G) c.*100-5C>G (n.*100-5C>G) n.539-5C>G c.5189-5C>G (n.5189-5C>G) c.4940-5C>G (n.4940-5C>G) c.4862-5C>G (n.4862-5C>G) c.4838-5C>G (n.4838-5C>G) | dbSNP gnomAD v2 |
| 14 | g.74501034G= | CA2147073480 | LTBP2 | c.5321-5C= (n.5321-5C=) c.*100-5C= (n.*100-5C=) n.539-5C= c.5189-5C= (n.5189-5C=) c.4940-5C= (n.4940-5C=) c.4862-5C= (n.4862-5C=) c.4838-5C= (n.4838-5C=) | |
| 14 | g.74501035A= | CA2147073481 | LTBP2 | c.5321-6T= (n.5321-6T=) c.*100-6T= (n.*100-6T=) n.539-6T= c.5189-6T= (n.5189-6T=) c.4940-6T= (n.4940-6T=) c.4862-6T= (n.4862-6T=) c.4838-6T= (n.4838-6T=) | |
| 14 | g.74501035A>G | CA263577413 | LTBP2 | c.5321-6T>C (n.5321-6T>C) c.*100-6T>C (n.*100-6T>C) n.539-6T>C c.5189-6T>C (n.5189-6T>C) c.4940-6T>C (n.4940-6T>C) c.4862-6T>C (n.4862-6T>C) c.4838-6T>C (n.4838-6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501035A>T | CA2802156147 | LTBP2 | c.5321-6T>A (n.5321-6T>A) c.*100-6T>A (n.*100-6T>A) n.539-6T>A c.5189-6T>A (n.5189-6T>A) c.4940-6T>A (n.4940-6T>A) c.4862-6T>A (n.4862-6T>A) c.4838-6T>A (n.4838-6T>A) | |
| 14 | g.74501036G>A | CA2147073482 | LTBP2 | c.5321-7C>T (n.5321-7C>T) c.*100-7C>T (n.*100-7C>T) n.539-7C>T c.5189-7C>T (n.5189-7C>T) c.4940-7C>T (n.4940-7C>T) c.4862-7C>T (n.4862-7C>T) c.4838-7C>T (n.4838-7C>T) | dbSNP |
| 14 | g.74501036G= | CA2147073483 | LTBP2 | c.5321-7C= (n.5321-7C=) c.*100-7C= (n.*100-7C=) n.539-7C= c.5189-7C= (n.5189-7C=) c.4940-7C= (n.4940-7C=) c.4862-7C= (n.4862-7C=) c.4838-7C= (n.4838-7C=) | |
| 14 | g.74501037dup | CA7268432 | LTBP2 | c.5321-7dup (n.5321-7dup) c.*100-7dup (n.*100-7dup) n.539-7dup c.5189-7dup (n.5189-7dup) c.4940-7dup (n.4940-7dup) c.4862-7dup (n.4862-7dup) c.4838-7dup (n.4838-7dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501037G>A | CA2625672221 | LTBP2 | c.5321-8C>T (n.5321-8C>T) c.*100-8C>T (n.*100-8C>T) n.539-8C>T c.5189-8C>T (n.5189-8C>T) c.4940-8C>T (n.4940-8C>T) c.4862-8C>T (n.4862-8C>T) c.4838-8C>T (n.4838-8C>T) | gnomAD v4 |
| 14 | g.74501038A>G | CA2625672222 | LTBP2 | c.5321-9T>C (n.5321-9T>C) c.*100-9T>C (n.*100-9T>C) n.539-9T>C c.5189-9T>C (n.5189-9T>C) c.4940-9T>C (n.4940-9T>C) c.4862-9T>C (n.4862-9T>C) c.4838-9T>C (n.4838-9T>C) | gnomAD v4 |
| 14 | g.74501040A= | CA2147073484 | LTBP2 | c.5321-11T= (n.5321-11T=) c.*100-11T= (n.*100-11T=) n.539-11T= c.5189-11T= (n.5189-11T=) c.4940-11T= (n.4940-11T=) c.4862-11T= (n.4862-11T=) c.4838-11T= (n.4838-11T=) | |
| 14 | g.74501040A>G | CA263577414 | LTBP2 | c.5321-11T>C (n.5321-11T>C) c.*100-11T>C (n.*100-11T>C) n.539-11T>C c.5189-11T>C (n.5189-11T>C) c.4940-11T>C (n.4940-11T>C) c.4862-11T>C (n.4862-11T>C) c.4838-11T>C (n.4838-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74501041_74501043delinsCAA | CA2147073486 | LTBP2 | c.5321-14_5321-12delinsTTG (n.5321-14_5321-12delinsTTG) c.*100-14_*100-12delinsTTG (n.*100-14_*100-12delinsTTG) n.539-14_539-12delinsTTG c.5189-14_5189-12delinsTTG (n.5189-14_5189-12delinsTTG) c.4940-14_4940-12delinsTTG (n.4940-14_4940-12delinsTTG) c.4862-14_4862-12delinsTTG (n.4862-14_4862-12delinsTTG) c.4838-14_4838-12delinsTTG (n.4838-14_4838-12delinsTTG) | |
| 14 | g.74501041_74501046delinsCAAAGG | CA2147073485 | LTBP2 | c.5321-17_5321-12delinsCCTTTG (n.5321-17_5321-12delinsCCTTTG) c.*100-17_*100-12delinsCCTTTG (n.*100-17_*100-12delinsCCTTTG) n.539-17_539-12delinsCCTTTG c.5189-17_5189-12delinsCCTTTG (n.5189-17_5189-12delinsCCTTTG) c.4940-17_4940-12delinsCCTTTG (n.4940-17_4940-12delinsCCTTTG) c.4862-17_4862-12delinsCCTTTG (n.4862-17_4862-12delinsCCTTTG) c.4838-17_4838-12delinsCCTTTG (n.4838-17_4838-12delinsCCTTTG) | |
| 14 | g.74501042A= | CA2147073488 | LTBP2 | c.5321-13T= (n.5321-13T=) c.*100-13T= (n.*100-13T=) n.539-13T= c.5189-13T= (n.5189-13T=) c.4940-13T= (n.4940-13T=) c.4862-13T= (n.4862-13T=) c.4838-13T= (n.4838-13T=) | |
| 14 | g.74501042A>G | CA2147073489 | LTBP2 | c.5321-13T>C (n.5321-13T>C) c.*100-13T>C (n.*100-13T>C) n.539-13T>C c.5189-13T>C (n.5189-13T>C) c.4940-13T>C (n.4940-13T>C) c.4862-13T>C (n.4862-13T>C) c.4838-13T>C (n.4838-13T>C) | dbSNP |
| 14 | g.74501044del | CA2147073487 | LTBP2 | c.5321-13del (n.5321-13del) c.*100-13del (n.*100-13del) n.539-13del c.5189-13del (n.5189-13del) c.4940-13del (n.4940-13del) c.4862-13del (n.4862-13del) c.4838-13del (n.4838-13del) | dbSNP |
| 14 | g.74501043_74501044del | CA919452135 | LTBP2 | c.5321-14_5321-13del (n.5321-14_5321-13del) c.*100-14_*100-13del (n.*100-14_*100-13del) n.539-14_539-13del c.5189-14_5189-13del (n.5189-14_5189-13del) c.4940-14_4940-13del (n.4940-14_4940-13del) c.4862-14_4862-13del (n.4862-14_4862-13del) c.4838-14_4838-13del (n.4838-14_4838-13del) | dbSNP |
| 14 | g.74501043_74501047del | CA708513238 | LTBP2 | c.5321-17_5321-13del (n.5321-17_5321-13del) c.*100-17_*100-13del (n.*100-17_*100-13del) n.539-17_539-13del c.5189-17_5189-13del (n.5189-17_5189-13del) c.4940-17_4940-13del (n.4940-17_4940-13del) c.4862-17_4862-13del (n.4862-17_4862-13del) c.4838-17_4838-13del (n.4838-17_4838-13del) | dbSNP gnomAD v4 |
| 14 | g.74501043A= | CA2147073490 | LTBP2 | c.5321-14T= (n.5321-14T=) c.*100-14T= (n.*100-14T=) n.539-14T= c.5189-14T= (n.5189-14T=) c.4940-14T= (n.4940-14T=) c.4862-14T= (n.4862-14T=) c.4838-14T= (n.4838-14T=) | |
| 14 | g.74501043A>C | CA2625672223 | LTBP2 | c.5321-14T>G (n.5321-14T>G) c.*100-14T>G (n.*100-14T>G) n.539-14T>G c.5189-14T>G (n.5189-14T>G) c.4940-14T>G (n.4940-14T>G) c.4862-14T>G (n.4862-14T>G) c.4838-14T>G (n.4838-14T>G) | gnomAD v4 |
| 14 | g.74501043A>G | CA964722983 | LTBP2 | c.5321-14T>C (n.5321-14T>C) c.*100-14T>C (n.*100-14T>C) n.539-14T>C c.5189-14T>C (n.5189-14T>C) c.4940-14T>C (n.4940-14T>C) c.4862-14T>C (n.4862-14T>C) c.4838-14T>C (n.4838-14T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74501044A= | CA2147073491 | LTBP2 | c.5321-15T= (n.5321-15T=) c.*100-15T= (n.*100-15T=) n.539-15T= c.5189-15T= (n.5189-15T=) c.4940-15T= (n.4940-15T=) c.4862-15T= (n.4862-15T=) c.4838-15T= (n.4838-15T=) | |
| 14 | g.74501044A>G | CA263577415 | LTBP2 | c.5321-15T>C (n.5321-15T>C) c.*100-15T>C (n.*100-15T>C) n.539-15T>C c.5189-15T>C (n.5189-15T>C) c.4940-15T>C (n.4940-15T>C) c.4862-15T>C (n.4862-15T>C) c.4838-15T>C (n.4838-15T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74501046_74501048del | CA2625672224 | LTBP2 | c.5321-17_5321-15del (n.5321-17_5321-15del) c.*100-17_*100-15del (n.*100-17_*100-15del) n.539-17_539-15del c.5189-17_5189-15del (n.5189-17_5189-15del) c.4940-17_4940-15del (n.4940-17_4940-15del) c.4862-17_4862-15del (n.4862-17_4862-15del) c.4838-17_4838-15del (n.4838-17_4838-15del) | gnomAD v4 |
| 14 | g.74501045G>A | CA7268433 | LTBP2 | c.5321-16C>T (n.5321-16C>T) c.*100-16C>T (n.*100-16C>T) n.539-16C>T c.5189-16C>T (n.5189-16C>T) c.4940-16C>T (n.4940-16C>T) c.4862-16C>T (n.4862-16C>T) c.4838-16C>T (n.4838-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501045G= | CA2147073492 | LTBP2 | c.5321-16C= (n.5321-16C=) c.*100-16C= (n.*100-16C=) n.539-16C= c.5189-16C= (n.5189-16C=) c.4940-16C= (n.4940-16C=) c.4862-16C= (n.4862-16C=) c.4838-16C= (n.4838-16C=) | |
| 14 | g.74501045_74501047delinsGGA | CA2147073493 | LTBP2 | c.5321-18_5321-16delinsTCC (n.5321-18_5321-16delinsTCC) c.*100-18_*100-16delinsTCC (n.*100-18_*100-16delinsTCC) n.539-18_539-16delinsTCC c.5189-18_5189-16delinsTCC (n.5189-18_5189-16delinsTCC) c.4940-18_4940-16delinsTCC (n.4940-18_4940-16delinsTCC) c.4862-18_4862-16delinsTCC (n.4862-18_4862-16delinsTCC) c.4838-18_4838-16delinsTCC (n.4838-18_4838-16delinsTCC) | |
| 14 | g.74501049_74501050del | CA7268434 | LTBP2 | c.5321-18_5321-17del (n.5321-18_5321-17del) c.*100-18_*100-17del (n.*100-18_*100-17del) n.539-18_539-17del c.5189-18_5189-17del (n.5189-18_5189-17del) c.4940-18_4940-17del (n.4940-18_4940-17del) c.4862-18_4862-17del (n.4862-18_4862-17del) c.4838-18_4838-17del (n.4838-18_4838-17del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501047A= | CA2147073494 | LTBP2 | c.5321-18T= (n.5321-18T=) c.*100-18T= (n.*100-18T=) n.539-18T= c.5189-18T= (n.5189-18T=) c.4940-18T= (n.4940-18T=) c.4862-18T= (n.4862-18T=) c.4838-18T= (n.4838-18T=) | |
| 14 | g.74501047A>C | CA263577441 | LTBP2 | c.5321-18T>G (n.5321-18T>G) c.*100-18T>G (n.*100-18T>G) n.539-18T>G c.5189-18T>G (n.5189-18T>G) c.4940-18T>G (n.4940-18T>G) c.4862-18T>G (n.4862-18T>G) c.4838-18T>G (n.4838-18T>G) | dbSNP |
| 14 | g.74501047A>G | CA7268435 | LTBP2 | c.5321-18T>C (n.5321-18T>C) c.*100-18T>C (n.*100-18T>C) n.539-18T>C c.5189-18T>C (n.5189-18T>C) c.4940-18T>C (n.4940-18T>C) c.4862-18T>C (n.4862-18T>C) c.4838-18T>C (n.4838-18T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501049A>G | CA655625789 | LTBP2 | c.5321-20T>C (n.5321-20T>C) c.*100-20T>C (n.*100-20T>C) n.539-20T>C c.5189-20T>C (n.5189-20T>C) c.4940-20T>C (n.4940-20T>C) c.4862-20T>C (n.4862-20T>C) c.4838-20T>C (n.4838-20T>C) | COSMIC |
| 14 | g.74501050G>C | CA2802156148 | LTBP2 | c.5321-21C>G (n.5321-21C>G) c.*100-21C>G (n.*100-21C>G) n.539-21C>G c.5189-21C>G (n.5189-21C>G) c.4940-21C>G (n.4940-21C>G) c.4862-21C>G (n.4862-21C>G) c.4838-21C>G (n.4838-21C>G) | |
| 14 | g.74501050G= | CA2147073495 | LTBP2 | c.5321-21C= (n.5321-21C=) c.*100-21C= (n.*100-21C=) n.539-21C= c.5189-21C= (n.5189-21C=) c.4940-21C= (n.4940-21C=) c.4862-21C= (n.4862-21C=) c.4838-21C= (n.4838-21C=) | |
| 14 | g.74501050G>T | CA615024613 | LTBP2 | c.5321-21C>A (n.5321-21C>A) c.*100-21C>A (n.*100-21C>A) n.539-21C>A c.5189-21C>A (n.5189-21C>A) c.4940-21C>A (n.4940-21C>A) c.4862-21C>A (n.4862-21C>A) c.4838-21C>A (n.4838-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501052G>A | CA615024615 | LTBP2 | c.5321-23C>T (n.5321-23C>T) c.*100-23C>T (n.*100-23C>T) n.539-23C>T c.5189-23C>T (n.5189-23C>T) c.4940-23C>T (n.4940-23C>T) c.4862-23C>T (n.4862-23C>T) c.4838-23C>T (n.4838-23C>T) | dbSNP gnomAD v2 |
| 14 | g.74501052G= | CA2147073496 | LTBP2 | c.5321-23C= (n.5321-23C=) c.*100-23C= (n.*100-23C=) n.539-23C= c.5189-23C= (n.5189-23C=) c.4940-23C= (n.4940-23C=) c.4862-23C= (n.4862-23C=) c.4838-23C= (n.4838-23C=) | |
| 14 | g.74501052_74501053del | CA2802156149 | LTBP2 | c.5321-24_5321-23del (n.5321-24_5321-23del) c.*100-24_*100-23del (n.*100-24_*100-23del) n.539-24_539-23del c.5189-24_5189-23del (n.5189-24_5189-23del) c.4940-24_4940-23del (n.4940-24_4940-23del) c.4862-24_4862-23del (n.4862-24_4862-23del) c.4838-24_4838-23del (n.4838-24_4838-23del) | |
| 14 | g.74501053C= | CA2147073497 | LTBP2 | c.5321-24G= (n.5321-24G=) c.*100-24G= (n.*100-24G=) n.539-24G= c.5189-24G= (n.5189-24G=) c.4940-24G= (n.4940-24G=) c.4862-24G= (n.4862-24G=) c.4838-24G= (n.4838-24G=) | |
| 14 | g.74501053C>T | CA615024617 | LTBP2 | c.5321-24G>A (n.5321-24G>A) c.*100-24G>A (n.*100-24G>A) n.539-24G>A c.5189-24G>A (n.5189-24G>A) c.4940-24G>A (n.4940-24G>A) c.4862-24G>A (n.4862-24G>A) c.4838-24G>A (n.4838-24G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501053_74501054insACA | CA2802156150 | LTBP2 | c.5321-25_5321-24insTGT (n.5321-25_5321-24insTGT) c.*100-25_*100-24insTGT (n.*100-25_*100-24insTGT) n.539-25_539-24insTGT c.5189-25_5189-24insTGT (n.5189-25_5189-24insTGT) c.4940-25_4940-24insTGT (n.4940-25_4940-24insTGT) c.4862-25_4862-24insTGT (n.4862-25_4862-24insTGT) c.4838-25_4838-24insTGT (n.4838-25_4838-24insTGT) | |
| 14 | g.74501054T>A | CA2802156151 | LTBP2 | c.5321-25A>T (n.5321-25A>T) c.*100-25A>T (n.*100-25A>T) n.539-25A>T c.5189-25A>T (n.5189-25A>T) c.4940-25A>T (n.4940-25A>T) c.4862-25A>T (n.4862-25A>T) c.4838-25A>T (n.4838-25A>T) | |
| 14 | g.74501055G>A | CA964722988 | LTBP2 | c.5321-26C>T (n.5321-26C>T) c.*100-26C>T (n.*100-26C>T) n.539-26C>T c.5189-26C>T (n.5189-26C>T) c.4940-26C>T (n.4940-26C>T) c.4862-26C>T (n.4862-26C>T) c.4838-26C>T (n.4838-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74501055G= | CA2147073498 | LTBP2 | c.5321-26C= (n.5321-26C=) c.*100-26C= (n.*100-26C=) n.539-26C= c.5189-26C= (n.5189-26C=) c.4940-26C= (n.4940-26C=) c.4862-26C= (n.4862-26C=) c.4838-26C= (n.4838-26C=) | |
| 14 | g.74501056del | CA2802156152 | LTBP2 | c.5321-27del (n.5321-27del) c.*100-27del (n.*100-27del) n.539-27del c.5189-27del (n.5189-27del) c.4940-27del (n.4940-27del) c.4862-27del (n.4862-27del) c.4838-27del (n.4838-27del) | |
| 14 | g.74501057A= | CA2147073499 | LTBP2 | c.5321-28T= (n.5321-28T=) c.*100-28T= (n.*100-28T=) n.539-28T= c.5189-28T= (n.5189-28T=) c.4940-28T= (n.4940-28T=) c.4862-28T= (n.4862-28T=) c.4838-28T= (n.4838-28T=) | |
| 14 | g.74501057A>G | CA263577442 | LTBP2 | c.5321-28T>C (n.5321-28T>C) c.*100-28T>C (n.*100-28T>C) n.539-28T>C c.5189-28T>C (n.5189-28T>C) c.4940-28T>C (n.4940-28T>C) c.4862-28T>C (n.4862-28T>C) c.4838-28T>C (n.4838-28T>C) | dbSNP |
| 14 | g.74501060del | CA2625672225 | LTBP2 | c.5321-29del (n.5321-29del) c.*100-29del (n.*100-29del) n.539-29del c.5189-29del (n.5189-29del) c.4940-29del (n.4940-29del) c.4862-29del (n.4862-29del) c.4838-29del (n.4838-29del) | gnomAD v4 |
| 14 | g.74501058_74501059insACA | CA2802156153 | LTBP2 | c.5321-30_5321-29insTGT (n.5321-30_5321-29insTGT) c.*100-30_*100-29insTGT (n.*100-30_*100-29insTGT) n.539-30_539-29insTGT c.5189-30_5189-29insTGT (n.5189-30_5189-29insTGT) c.4940-30_4940-29insTGT (n.4940-30_4940-29insTGT) c.4862-30_4862-29insTGT (n.4862-30_4862-29insTGT) c.4838-30_4838-29insTGT (n.4838-30_4838-29insTGT) | |
| 14 | g.74501059G>A | CA487155796 | LTBP2 | c.5321-30C>T (n.5321-30C>T) c.*100-30C>T (n.*100-30C>T) n.539-30C>T c.5189-30C>T (n.5189-30C>T) c.4940-30C>T (n.4940-30C>T) c.4862-30C>T (n.4862-30C>T) c.4838-30C>T (n.4838-30C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501059G= | CA2147073500 | LTBP2 | c.5321-30C= (n.5321-30C=) c.*100-30C= (n.*100-30C=) n.539-30C= c.5189-30C= (n.5189-30C=) c.4940-30C= (n.4940-30C=) c.4862-30C= (n.4862-30C=) c.4838-30C= (n.4838-30C=) | |
| 14 | g.74501060_74501065del | CA2802156154 | LTBP2 | c.5321-36_5321-31del (n.5321-36_5321-31del) c.*100-36_*100-31del (n.*100-36_*100-31del) n.539-36_539-31del c.5189-36_5189-31del (n.5189-36_5189-31del) c.4940-36_4940-31del (n.4940-36_4940-31del) c.4862-36_4862-31del (n.4862-36_4862-31del) c.4838-36_4838-31del (n.4838-36_4838-31del) | |
| 14 | g.74501061A= | CA2147073501 | LTBP2 | c.5321-32T= (n.5321-32T=) c.*100-32T= (n.*100-32T=) n.539-32T= c.5189-32T= (n.5189-32T=) c.4940-32T= (n.4940-32T=) c.4862-32T= (n.4862-32T=) c.4838-32T= (n.4838-32T=) | |
| 14 | g.74501061A>G | CA2147073502 | LTBP2 | c.5321-32T>C (n.5321-32T>C) c.*100-32T>C (n.*100-32T>C) n.539-32T>C c.5189-32T>C (n.5189-32T>C) c.4940-32T>C (n.4940-32T>C) c.4862-32T>C (n.4862-32T>C) c.4838-32T>C (n.4838-32T>C) | dbSNP |
| 14 | g.74501062G>T | CA2625672226 | LTBP2 | c.5321-33C>A (n.5321-33C>A) c.*100-33C>A (n.*100-33C>A) n.539-33C>A c.5189-33C>A (n.5189-33C>A) c.4940-33C>A (n.4940-33C>A) c.4862-33C>A (n.4862-33C>A) c.4838-33C>A (n.4838-33C>A) | gnomAD v4 |
| 14 | g.74501062_74501064del | CA2802156155 | LTBP2 | c.5321-35_5321-33del (n.5321-35_5321-33del) c.*100-35_*100-33del (n.*100-35_*100-33del) n.539-35_539-33del c.5189-35_5189-33del (n.5189-35_5189-33del) c.4940-35_4940-33del (n.4940-35_4940-33del) c.4862-35_4862-33del (n.4862-35_4862-33del) c.4838-35_4838-33del (n.4838-35_4838-33del) | |
| 14 | g.74501063C>A | CA2625672227 | LTBP2 | c.5321-34G>T (n.5321-34G>T) c.*100-34G>T (n.*100-34G>T) n.539-34G>T c.5189-34G>T (n.5189-34G>T) c.4940-34G>T (n.4940-34G>T) c.4862-34G>T (n.4862-34G>T) c.4838-34G>T (n.4838-34G>T) | gnomAD v4 |
| 14 | g.74501063C>T | CA2575576829 | LTBP2 | c.5321-34G>A (n.5321-34G>A) c.*100-34G>A (n.*100-34G>A) n.539-34G>A c.5189-34G>A (n.5189-34G>A) c.4940-34G>A (n.4940-34G>A) c.4862-34G>A (n.4862-34G>A) c.4838-34G>A (n.4838-34G>A) | |
| 14 | g.74501065C= | CA2147073503 | LTBP2 | c.5321-36G= (n.5321-36G=) c.*100-36G= (n.*100-36G=) n.539-36G= c.5189-36G= (n.5189-36G=) c.4940-36G= (n.4940-36G=) c.4862-36G= (n.4862-36G=) c.4838-36G= (n.4838-36G=) | |
| 14 | g.74501065C>G | CA7268436 | LTBP2 | c.5321-36G>C (n.5321-36G>C) c.*100-36G>C (n.*100-36G>C) n.539-36G>C c.5189-36G>C (n.5189-36G>C) c.4940-36G>C (n.4940-36G>C) c.4862-36G>C (n.4862-36G>C) c.4838-36G>C (n.4838-36G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501066del | CA2625672228 | LTBP2 | c.5321-37del (n.5321-37del) c.*100-37del (n.*100-37del) n.539-37del c.5189-37del (n.5189-37del) c.4940-37del (n.4940-37del) c.4862-37del (n.4862-37del) c.4838-37del (n.4838-37del) | gnomAD v4 |
| 14 | g.74501068G>A | CA2625672229 | LTBP2 | c.5321-39C>T (n.5321-39C>T) c.*100-39C>T (n.*100-39C>T) n.539-39C>T c.5189-39C>T (n.5189-39C>T) c.4940-39C>T (n.4940-39C>T) c.4862-39C>T (n.4862-39C>T) c.4838-39C>T (n.4838-39C>T) | gnomAD v4 |
| 14 | g.74501068G>T | CA2802156156 | LTBP2 | c.5321-39C>A (n.5321-39C>A) c.*100-39C>A (n.*100-39C>A) n.539-39C>A c.5189-39C>A (n.5189-39C>A) c.4940-39C>A (n.4940-39C>A) c.4862-39C>A (n.4862-39C>A) c.4838-39C>A (n.4838-39C>A) | |
| 14 | g.74501068_74501081delinsGTGCCTCTGCTGGC | CA2147073504 | LTBP2 | c.5321-52_5321-39delinsGCCAGCAGAGGCAC (n.5321-52_5321-39delinsGCCAGCAGAGGCAC) c.*100-52_*100-39delinsGCCAGCAGAGGCAC (n.*100-52_*100-39delinsGCCAGCAGAGGCAC) n.539-52_539-39delinsGCCAGCAGAGGCAC c.5189-52_5189-39delinsGCCAGCAGAGGCAC (n.5189-52_5189-39delinsGCCAGCAGAGGCAC) c.4940-52_4940-39delinsGCCAGCAGAGGCAC (n.4940-52_4940-39delinsGCCAGCAGAGGCAC) c.4862-52_4862-39delinsGCCAGCAGAGGCAC (n.4862-52_4862-39delinsGCCAGCAGAGGCAC) c.4838-52_4838-39delinsGCCAGCAGAGGCAC (n.4838-52_4838-39delinsGCCAGCAGAGGCAC) | |
| 14 | g.74501069T>A | CA2802156157 | LTBP2 | c.5321-40A>T (n.5321-40A>T) c.*100-40A>T (n.*100-40A>T) n.539-40A>T c.5189-40A>T (n.5189-40A>T) c.4940-40A>T (n.4940-40A>T) c.4862-40A>T (n.4862-40A>T) c.4838-40A>T (n.4838-40A>T) | |
| 14 | g.74501075_74501087del | CA2147073505 | LTBP2 | c.5321-52_5321-40del (n.5321-52_5321-40del) c.*100-52_*100-40del (n.*100-52_*100-40del) n.539-52_539-40del c.5189-52_5189-40del (n.5189-52_5189-40del) c.4940-52_4940-40del (n.4940-52_4940-40del) c.4862-52_4862-40del (n.4862-52_4862-40del) c.4838-52_4838-40del (n.4838-52_4838-40del) | dbSNP |
| 14 | g.74501070del | CA2802156158 | LTBP2 | c.5321-41del (n.5321-41del) c.*100-41del (n.*100-41del) n.539-41del c.5189-41del (n.5189-41del) c.4940-41del (n.4940-41del) c.4862-41del (n.4862-41del) c.4838-41del (n.4838-41del) | |
| 14 | g.74501070G>A | CA2802156159 | LTBP2 | c.5321-41C>T (n.5321-41C>T) c.*100-41C>T (n.*100-41C>T) n.539-41C>T c.5189-41C>T (n.5189-41C>T) c.4940-41C>T (n.4940-41C>T) c.4862-41C>T (n.4862-41C>T) c.4838-41C>T (n.4838-41C>T) | |
| 14 | g.74501071C>A | CA7268437 | LTBP2 | c.5321-42G>T (n.5321-42G>T) c.*100-42G>T (n.*100-42G>T) n.539-42G>T c.5189-42G>T (n.5189-42G>T) c.4940-42G>T (n.4940-42G>T) c.4862-42G>T (n.4862-42G>T) c.4838-42G>T (n.4838-42G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501071C= | CA2147073506 | LTBP2 | c.5321-42G= (n.5321-42G=) c.*100-42G= (n.*100-42G=) n.539-42G= c.5189-42G= (n.5189-42G=) c.4940-42G= (n.4940-42G=) c.4862-42G= (n.4862-42G=) c.4838-42G= (n.4838-42G=) | |
| 14 | g.74501071C>T | CA263577444 | LTBP2 | c.5321-42G>A (n.5321-42G>A) c.*100-42G>A (n.*100-42G>A) n.539-42G>A c.5189-42G>A (n.5189-42G>A) c.4940-42G>A (n.4940-42G>A) c.4862-42G>A (n.4862-42G>A) c.4838-42G>A (n.4838-42G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501072C>A | CA2625672230 | LTBP2 | c.5321-43G>T (n.5321-43G>T) c.*100-43G>T (n.*100-43G>T) n.539-43G>T c.5189-43G>T (n.5189-43G>T) c.4940-43G>T (n.4940-43G>T) c.4862-43G>T (n.4862-43G>T) c.4838-43G>T (n.4838-43G>T) | gnomAD v4 |
| 14 | g.74501072_74501073insACA | CA2802156160 | LTBP2 | c.5321-44_5321-43insTGT (n.5321-44_5321-43insTGT) c.*100-44_*100-43insTGT (n.*100-44_*100-43insTGT) n.539-44_539-43insTGT c.5189-44_5189-43insTGT (n.5189-44_5189-43insTGT) c.4940-44_4940-43insTGT (n.4940-44_4940-43insTGT) c.4862-44_4862-43insTGT (n.4862-44_4862-43insTGT) c.4838-44_4838-43insTGT (n.4838-44_4838-43insTGT) | |
| 14 | g.74501073_74501074insA | CA2802156161 | LTBP2 | c.5321-45_5321-44insT (n.5321-45_5321-44insT) c.*100-45_*100-44insT (n.*100-45_*100-44insT) n.539-45_539-44insT c.5189-45_5189-44insT (n.5189-45_5189-44insT) c.4940-45_4940-44insT (n.4940-45_4940-44insT) c.4862-45_4862-44insT (n.4862-45_4862-44insT) c.4838-45_4838-44insT (n.4838-45_4838-44insT) | |
| 14 | g.74501074C>A | CA2625672232 | LTBP2 | c.5321-45G>T (n.5321-45G>T) c.*100-45G>T (n.*100-45G>T) n.539-45G>T c.5189-45G>T (n.5189-45G>T) c.4940-45G>T (n.4940-45G>T) c.4862-45G>T (n.4862-45G>T) c.4838-45G>T (n.4838-45G>T) | gnomAD v4 |
| 14 | g.74501074C= | CA2147073507 | LTBP2 | c.5321-45G= (n.5321-45G=) c.*100-45G= (n.*100-45G=) n.539-45G= c.5189-45G= (n.5189-45G=) c.4940-45G= (n.4940-45G=) c.4862-45G= (n.4862-45G=) c.4838-45G= (n.4838-45G=) | |
| 14 | g.74501074C>G | CA263577449 | LTBP2 | c.5321-45G>C (n.5321-45G>C) c.*100-45G>C (n.*100-45G>C) n.539-45G>C c.5189-45G>C (n.5189-45G>C) c.4940-45G>C (n.4940-45G>C) c.4862-45G>C (n.4862-45G>C) c.4838-45G>C (n.4838-45G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501074C>T | CA7268438 | LTBP2 | c.5321-45G>A (n.5321-45G>A) c.*100-45G>A (n.*100-45G>A) n.539-45G>A c.5189-45G>A (n.5189-45G>A) c.4940-45G>A (n.4940-45G>A) c.4862-45G>A (n.4862-45G>A) c.4838-45G>A (n.4838-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74501074_74501075insACA | CA2802156162 | LTBP2 | c.5321-46_5321-45insTGT (n.5321-46_5321-45insTGT) c.*100-46_*100-45insTGT (n.*100-46_*100-45insTGT) n.539-46_539-45insTGT c.5189-46_5189-45insTGT (n.5189-46_5189-45insTGT) c.4940-46_4940-45insTGT (n.4940-46_4940-45insTGT) c.4862-46_4862-45insTGT (n.4862-46_4862-45insTGT) c.4838-46_4838-45insTGT (n.4838-46_4838-45insTGT) | |
| 14 | g.74501075T>C | CA7268439 | LTBP2 | c.5321-46A>G (n.5321-46A>G) c.*100-46A>G (n.*100-46A>G) n.539-46A>G c.5189-46A>G (n.5189-46A>G) c.4940-46A>G (n.4940-46A>G) c.4862-46A>G (n.4862-46A>G) c.4838-46A>G (n.4838-46A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74501075T= | CA2147073508 | LTBP2 | c.5321-46A= (n.5321-46A=) c.*100-46A= (n.*100-46A=) n.539-46A= c.5189-46A= (n.5189-46A=) c.4940-46A= (n.4940-46A=) c.4862-46A= (n.4862-46A=) c.4838-46A= (n.4838-46A=) | |
| 14 | g.74501075_74501076insA | CA2802156163 | LTBP2 | c.5321-47_5321-46insT (n.5321-47_5321-46insT) c.*100-47_*100-46insT (n.*100-47_*100-46insT) n.539-47_539-46insT c.5189-47_5189-46insT (n.5189-47_5189-46insT) c.4940-47_4940-46insT (n.4940-47_4940-46insT) c.4862-47_4862-46insT (n.4862-47_4862-46insT) c.4838-47_4838-46insT (n.4838-47_4838-46insT) | |
| 14 | g.74501076G>A | CA2625672233 | LTBP2 | c.5321-47C>T (n.5321-47C>T) c.*100-47C>T (n.*100-47C>T) n.539-47C>T c.5189-47C>T (n.5189-47C>T) c.4940-47C>T (n.4940-47C>T) c.4862-47C>T (n.4862-47C>T) c.4838-47C>T (n.4838-47C>T) | gnomAD v4 |
| 14 | g.74501076G>T | CA2625672234 | LTBP2 | c.5321-47C>A (n.5321-47C>A) c.*100-47C>A (n.*100-47C>A) n.539-47C>A c.5189-47C>A (n.5189-47C>A) c.4940-47C>A (n.4940-47C>A) c.4862-47C>A (n.4862-47C>A) c.4838-47C>A (n.4838-47C>A) | gnomAD v4 |
| 14 | g.74501077C>A | CA2625672235 | LTBP2 | c.5321-48G>T (n.5321-48G>T) c.*100-48G>T (n.*100-48G>T) n.539-48G>T c.5189-48G>T (n.5189-48G>T) c.4940-48G>T (n.4940-48G>T) c.4862-48G>T (n.4862-48G>T) c.4838-48G>T (n.4838-48G>T) | gnomAD v4 |
| 14 | g.74501077C= | CA2147073509 | LTBP2 | c.5321-48G= (n.5321-48G=) c.*100-48G= (n.*100-48G=) n.539-48G= c.5189-48G= (n.5189-48G=) c.4940-48G= (n.4940-48G=) c.4862-48G= (n.4862-48G=) c.4838-48G= (n.4838-48G=) | |
| 14 | g.74501077C>T | CA615024644 | LTBP2 | c.5321-48G>A (n.5321-48G>A) c.*100-48G>A (n.*100-48G>A) n.539-48G>A c.5189-48G>A (n.5189-48G>A) c.4940-48G>A (n.4940-48G>A) c.4862-48G>A (n.4862-48G>A) c.4838-48G>A (n.4838-48G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501077_74501078insAG | CA2802156164 | LTBP2 | c.5321-49_5321-48insCT (n.5321-49_5321-48insCT) c.*100-49_*100-48insCT (n.*100-49_*100-48insCT) n.539-49_539-48insCT c.5189-49_5189-48insCT (n.5189-49_5189-48insCT) c.4940-49_4940-48insCT (n.4940-49_4940-48insCT) c.4862-49_4862-48insCT (n.4862-49_4862-48insCT) c.4838-49_4838-48insCT (n.4838-49_4838-48insCT) | |
| 14 | g.74501079G>T | CA2625672236 | LTBP2 | c.5321-50C>A (n.5321-50C>A) c.*100-50C>A (n.*100-50C>A) n.539-50C>A c.5189-50C>A (n.5189-50C>A) c.4940-50C>A (n.4940-50C>A) c.4862-50C>A (n.4862-50C>A) c.4838-50C>A (n.4838-50C>A) | gnomAD v4 |
| 14 | g.74501079_74501083del | CA2802156165 | LTBP2 | c.5321-54_5321-50del (n.5321-54_5321-50del) c.*100-54_*100-50del (n.*100-54_*100-50del) n.539-54_539-50del c.5189-54_5189-50del (n.5189-54_5189-50del) c.4940-54_4940-50del (n.4940-54_4940-50del) c.4862-54_4862-50del (n.4862-54_4862-50del) c.4838-54_4838-50del (n.4838-54_4838-50del) | |
| 14 | g.74501080G>A | CA615024654 | LTBP2 | c.5321-51C>T (n.5321-51C>T) c.*100-51C>T (n.*100-51C>T) n.539-51C>T c.5189-51C>T (n.5189-51C>T) c.4940-51C>T (n.4940-51C>T) c.4862-51C>T (n.4862-51C>T) c.4838-51C>T (n.4838-51C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74501080G>C | CA2625672239 | LTBP2 | c.5321-51C>G (n.5321-51C>G) c.*100-51C>G (n.*100-51C>G) n.539-51C>G c.5189-51C>G (n.5189-51C>G) c.4940-51C>G (n.4940-51C>G) c.4862-51C>G (n.4862-51C>G) c.4838-51C>G (n.4838-51C>G) | gnomAD v4 |
| 14 | g.74501080G= | CA2147073510 | LTBP2 | c.5321-51C= (n.5321-51C=) c.*100-51C= (n.*100-51C=) n.539-51C= c.5189-51C= (n.5189-51C=) c.4940-51C= (n.4940-51C=) c.4862-51C= (n.4862-51C=) c.4838-51C= (n.4838-51C=) | |
| 14 | g.74501080G>T | CA2625672238 | LTBP2 | c.5321-51C>A (n.5321-51C>A) c.*100-51C>A (n.*100-51C>A) n.539-51C>A c.5189-51C>A (n.5189-51C>A) c.4940-51C>A (n.4940-51C>A) c.4862-51C>A (n.4862-51C>A) c.4838-51C>A (n.4838-51C>A) | gnomAD v4 |
| 14 | g.74501080_74501081insAGA | CA2802156166 | LTBP2 | c.5321-52_5321-51insTCT (n.5321-52_5321-51insTCT) c.*100-52_*100-51insTCT (n.*100-52_*100-51insTCT) n.539-52_539-51insTCT c.5189-52_5189-51insTCT (n.5189-52_5189-51insTCT) c.4940-52_4940-51insTCT (n.4940-52_4940-51insTCT) c.4862-52_4862-51insTCT (n.4862-52_4862-51insTCT) c.4838-52_4838-51insTCT (n.4838-52_4838-51insTCT) | |
| 14 | g.74501081C>A | CA2625672240 | LTBP2 | c.5321-52G>T (n.5321-52G>T) c.*100-52G>T (n.*100-52G>T) n.539-52G>T c.5189-52G>T (n.5189-52G>T) c.4940-52G>T (n.4940-52G>T) c.4862-52G>T (n.4862-52G>T) c.4838-52G>T (n.4838-52G>T) | gnomAD v4 |
| 14 | g.74501081_74501100del | CA2802156167 | LTBP2 | c.5321-71_5321-52del (n.5321-71_5321-52del) c.*100-71_*100-52del (n.*100-71_*100-52del) n.539-71_539-52del c.5189-71_5189-52del (n.5189-71_5189-52del) c.4940-71_4940-52del (n.4940-71_4940-52del) c.4862-71_4862-52del (n.4862-71_4862-52del) c.4838-71_4838-52del (n.4838-71_4838-52del) | |
| 14 | g.74501081_74501082insA | CA2802156168 | LTBP2 | c.5321-53_5321-52insT (n.5321-53_5321-52insT) c.*100-53_*100-52insT (n.*100-53_*100-52insT) n.539-53_539-52insT c.5189-53_5189-52insT (n.5189-53_5189-52insT) c.4940-53_4940-52insT (n.4940-53_4940-52insT) c.4862-53_4862-52insT (n.4862-53_4862-52insT) c.4838-53_4838-52insT (n.4838-53_4838-52insT) | |
| 14 | g.74501082_74501083insA | CA2802156169 | LTBP2 | c.5321-54_5321-53insT (n.5321-54_5321-53insT) c.*100-54_*100-53insT (n.*100-54_*100-53insT) n.539-54_539-53insT c.5189-54_5189-53insT (n.5189-54_5189-53insT) c.4940-54_4940-53insT (n.4940-54_4940-53insT) c.4862-54_4862-53insT (n.4862-54_4862-53insT) c.4838-54_4838-53insT (n.4838-54_4838-53insT) | |
| 14 | g.74501083del | CA2802156170 | LTBP2 | c.5321-54del (n.5321-54del) c.*100-54del (n.*100-54del) n.539-54del c.5189-54del (n.5189-54del) c.4940-54del (n.4940-54del) c.4862-54del (n.4862-54del) c.4838-54del (n.4838-54del) | |
| 14 | g.74501083G>A | CA964722994 | LTBP2 | c.5321-54C>T (n.5321-54C>T) c.*100-54C>T (n.*100-54C>T) n.539-54C>T c.5189-54C>T (n.5189-54C>T) c.4940-54C>T (n.4940-54C>T) c.4862-54C>T (n.4862-54C>T) c.4838-54C>T (n.4838-54C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.74501083G= | CA2147073511 | LTBP2 | c.5321-54C= (n.5321-54C=) c.*100-54C= (n.*100-54C=) n.539-54C= c.5189-54C= (n.5189-54C=) c.4940-54C= (n.4940-54C=) c.4862-54C= (n.4862-54C=) c.4838-54C= (n.4838-54C=) | |
| 14 | g.74501083G>T | CA2625672241 | LTBP2 | c.5321-54C>A (n.5321-54C>A) c.*100-54C>A (n.*100-54C>A) n.539-54C>A c.5189-54C>A (n.5189-54C>A) c.4940-54C>A (n.4940-54C>A) c.4862-54C>A (n.4862-54C>A) c.4838-54C>A (n.4838-54C>A) | gnomAD v4 |
| 14 | g.74501084C>A | CA2802156171 | LTBP2 | c.5321-55G>T (n.5321-55G>T) c.*100-55G>T (n.*100-55G>T) n.539-55G>T c.5189-55G>T (n.5189-55G>T) c.4940-55G>T (n.4940-55G>T) c.4862-55G>T (n.4862-55G>T) c.4838-55G>T (n.4838-55G>T) | |
| 14 | g.74501084C>G | CA2802156172 | LTBP2 | c.5321-55G>C (n.5321-55G>C) c.*100-55G>C (n.*100-55G>C) n.539-55G>C c.5189-55G>C (n.5189-55G>C) c.4940-55G>C (n.4940-55G>C) c.4862-55G>C (n.4862-55G>C) c.4838-55G>C (n.4838-55G>C) | |
| 14 | g.74501084C>T | CA2625672242 | LTBP2 | c.5321-55G>A (n.5321-55G>A) c.*100-55G>A (n.*100-55G>A) n.539-55G>A c.5189-55G>A (n.5189-55G>A) c.4940-55G>A (n.4940-55G>A) c.4862-55G>A (n.4862-55G>A) c.4838-55G>A (n.4838-55G>A) | gnomAD v4 |
| 14 | g.74501084_74501085insAGT | CA2802156173 | LTBP2 | c.5321-56_5321-55insACT (n.5321-56_5321-55insACT) c.*100-56_*100-55insACT (n.*100-56_*100-55insACT) n.539-56_539-55insACT c.5189-56_5189-55insACT (n.5189-56_5189-55insACT) c.4940-56_4940-55insACT (n.4940-56_4940-55insACT) c.4862-56_4862-55insACT (n.4862-56_4862-55insACT) c.4838-56_4838-55insACT (n.4838-56_4838-55insACT) | |
| 14 | g.74501085C>A | CA2625672243 | LTBP2 | c.5321-56G>T (n.5321-56G>T) c.*100-56G>T (n.*100-56G>T) n.539-56G>T c.5189-56G>T (n.5189-56G>T) c.4940-56G>T (n.4940-56G>T) c.4862-56G>T (n.4862-56G>T) c.4838-56G>T (n.4838-56G>T) | gnomAD v4 |
| 14 | g.74501085C= | CA2147073512 | LTBP2 | c.5321-56G= (n.5321-56G=) c.*100-56G= (n.*100-56G=) n.539-56G= c.5189-56G= (n.5189-56G=) c.4940-56G= (n.4940-56G=) c.4862-56G= (n.4862-56G=) c.4838-56G= (n.4838-56G=) | |
| 14 | g.74501085C>T | CA2147073513 | LTBP2 | c.5321-56G>A (n.5321-56G>A) c.*100-56G>A (n.*100-56G>A) n.539-56G>A c.5189-56G>A (n.5189-56G>A) c.4940-56G>A (n.4940-56G>A) c.4862-56G>A (n.4862-56G>A) c.4838-56G>A (n.4838-56G>A) | dbSNP |