Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74503317T>ACA390384672LTBP2c.4790A>T (p.Glu1597Val)
c.4658A>T (p.Glu1553Val)
c.4409A>T (p.Glu1470Val)
c.4331A>T (p.Glu1444Val)
c.4307A>T (p.Glu1436Val)
14g.74503317T>CCA390384673LTBP2c.4790A>G (p.Glu1597Gly)
c.4658A>G (p.Glu1553Gly)
c.4409A>G (p.Glu1470Gly)
c.4331A>G (p.Glu1444Gly)
c.4307A>G (p.Glu1436Gly)
14g.74503317T>GCA390384675LTBP2c.4790A>C (p.Glu1597Ala)
c.4658A>C (p.Glu1553Ala)
c.4409A>C (p.Glu1470Ala)
c.4331A>C (p.Glu1444Ala)
c.4307A>C (p.Glu1436Ala)
14g.74503318C>ACA390384678LTBP2c.4789G>T (p.Glu1597Ter)
c.4657G>T (p.Glu1553Ter)
c.4408G>T (p.Glu1470Ter)
c.4330G>T (p.Glu1444Ter)
c.4306G>T (p.Glu1436Ter)
 dbSNP
14g.74503318C=CA2147075239LTBP2c.4789G= (p.Glu1597=)
c.4657G= (p.Glu1553=)
c.4408G= (p.Glu1470=)
c.4330G= (p.Glu1444=)
c.4306G= (p.Glu1436=)
14g.74503318C>GCA390384680LTBP2c.4789G>C (p.Glu1597Gln)
c.4657G>C (p.Glu1553Gln)
c.4408G>C (p.Glu1470Gln)
c.4330G>C (p.Glu1444Gln)
c.4306G>C (p.Glu1436Gln)
14g.74503318C>TCA7268633LTBP2c.4789G>A (p.Glu1597Lys)
c.4657G>A (p.Glu1553Lys)
c.4408G>A (p.Glu1470Lys)
c.4330G>A (p.Glu1444Lys)
c.4306G>A (p.Glu1436Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.74503319G>ACA7268634LTBP2c.4788C>T (p.Ser1596=)
c.4656C>T (p.Ser1552=)
c.4407C>T (p.Ser1469=)
c.4329C>T (p.Ser1443=)
c.4305C>T (p.Ser1435=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503319G>CCA390384683LTBP2c.4788C>G (p.Ser1596Arg)
c.4656C>G (p.Ser1552Arg)
c.4407C>G (p.Ser1469Arg)
c.4329C>G (p.Ser1443Arg)
c.4305C>G (p.Ser1435Arg)
14g.74503319G=CA2147075242LTBP2c.4788C= (p.Ser1596=)
c.4656C= (p.Ser1552=)
c.4407C= (p.Ser1469=)
c.4329C= (p.Ser1443=)
c.4305C= (p.Ser1435=)
14g.74503319G>TCA390384685LTBP2c.4788C>A (p.Ser1596Arg)
c.4656C>A (p.Ser1552Arg)
c.4407C>A (p.Ser1469Arg)
c.4329C>A (p.Ser1443Arg)
c.4305C>A (p.Ser1435Arg)
14g.74503320C>ACA390384687LTBP2c.4787G>T (p.Ser1596Ile)
c.4655G>T (p.Ser1552Ile)
c.4406G>T (p.Ser1469Ile)
c.4328G>T (p.Ser1443Ile)
c.4304G>T (p.Ser1435Ile)
14g.74503320C>GCA390384688LTBP2c.4787G>C (p.Ser1596Thr)
c.4655G>C (p.Ser1552Thr)
c.4406G>C (p.Ser1469Thr)
c.4328G>C (p.Ser1443Thr)
c.4304G>C (p.Ser1435Thr)
14g.74503320C>TCA390384689LTBP2c.4787G>A (p.Ser1596Asn)
c.4655G>A (p.Ser1552Asn)
c.4406G>A (p.Ser1469Asn)
c.4328G>A (p.Ser1443Asn)
c.4304G>A (p.Ser1435Asn)
14g.74503321T>ACA390384696LTBP2c.4786A>T (p.Ser1596Cys)
c.4654A>T (p.Ser1552Cys)
c.4405A>T (p.Ser1469Cys)
c.4327A>T (p.Ser1443Cys)
c.4303A>T (p.Ser1435Cys)
14g.74503321T>CCA390384692LTBP2c.4786A>G (p.Ser1596Gly)
c.4654A>G (p.Ser1552Gly)
c.4405A>G (p.Ser1469Gly)
c.4327A>G (p.Ser1443Gly)
c.4303A>G (p.Ser1435Gly)
 gnomAD v4
14g.74503321T>GCA390384695LTBP2c.4786A>C (p.Ser1596Arg)
c.4654A>C (p.Ser1552Arg)
c.4405A>C (p.Ser1469Arg)
c.4327A>C (p.Ser1443Arg)
c.4303A>C (p.Ser1435Arg)
14g.74503328_74503329insATGCACACACA2625668525LTBP2c.4786_4787insTTGTGTGCA (p.Cys1595_Ser1596insIleValCys)
c.4654_4655insTTGTGTGCA (p.Cys1551_Ser1552insIleValCys)
c.4405_4406insTTGTGTGCA (p.Cys1468_Ser1469insIleValCys)
c.4327_4328insTTGTGTGCA (p.Cys1442_Ser1443insIleValCys)
c.4303_4304insTTGTGTGCA (p.Cys1434_Ser1435insIleValCys)
 gnomAD v4
14g.74503322G>ACA487267146LTBP2c.4785C>T (p.Cys1595=)
c.4653C>T (p.Cys1551=)
c.4404C>T (p.Cys1468=)
c.4326C>T (p.Cys1442=)
c.4302C>T (p.Cys1434=)
14g.74503322G>CCA390384698LTBP2c.4785C>G (p.Cys1595Trp)
c.4653C>G (p.Cys1551Trp)
c.4404C>G (p.Cys1468Trp)
c.4326C>G (p.Cys1442Trp)
c.4302C>G (p.Cys1434Trp)
14g.74503322G>TCA390384700LTBP2c.4785C>A (p.Cys1595Ter)
c.4653C>A (p.Cys1551Ter)
c.4404C>A (p.Cys1468Ter)
c.4326C>A (p.Cys1442Ter)
c.4302C>A (p.Cys1434Ter)
14g.74503323C>ACA390384701LTBP2c.4784G>T (p.Cys1595Phe)
c.4652G>T (p.Cys1551Phe)
c.4403G>T (p.Cys1468Phe)
c.4325G>T (p.Cys1442Phe)
c.4301G>T (p.Cys1434Phe)
14g.74503323C>GCA390384703LTBP2c.4784G>C (p.Cys1595Ser)
c.4652G>C (p.Cys1551Ser)
c.4403G>C (p.Cys1468Ser)
c.4325G>C (p.Cys1442Ser)
c.4301G>C (p.Cys1434Ser)
14g.74503323C>TCA390384704LTBP2c.4784G>A (p.Cys1595Tyr)
c.4652G>A (p.Cys1551Tyr)
c.4403G>A (p.Cys1468Tyr)
c.4325G>A (p.Cys1442Tyr)
c.4301G>A (p.Cys1434Tyr)
14g.74503324A>CCA390384706LTBP2c.4783T>G (p.Cys1595Gly)
c.4651T>G (p.Cys1551Gly)
c.4402T>G (p.Cys1468Gly)
c.4324T>G (p.Cys1442Gly)
c.4300T>G (p.Cys1434Gly)
14g.74503324A>GCA390384709LTBP2c.4783T>C (p.Cys1595Arg)
c.4651T>C (p.Cys1551Arg)
c.4402T>C (p.Cys1468Arg)
c.4324T>C (p.Cys1442Arg)
c.4300T>C (p.Cys1434Arg)
 gnomAD v4
14g.74503324A>TCA390384707LTBP2c.4783T>A (p.Cys1595Ser)
c.4651T>A (p.Cys1551Ser)
c.4402T>A (p.Cys1468Ser)
c.4324T>A (p.Cys1442Ser)
c.4300T>A (p.Cys1434Ser)
14g.74503325C>ACA487267147LTBP2c.4782G>T (p.Val1594=)
c.4650G>T (p.Val1550=)
c.4401G>T (p.Val1467=)
c.4323G>T (p.Val1441=)
c.4299G>T (p.Val1433=)
14g.74503325C=CA2147075245LTBP2c.4782G= (p.Val1594=)
c.4650G= (p.Val1550=)
c.4401G= (p.Val1467=)
c.4323G= (p.Val1441=)
c.4299G= (p.Val1433=)
14g.74503325C>GCA487267148LTBP2c.4782G>C (p.Val1594=)
c.4650G>C (p.Val1550=)
c.4401G>C (p.Val1467=)
c.4323G>C (p.Val1441=)
c.4299G>C (p.Val1433=)
14g.74503325C>TCA7268635LTBP2c.4782G>A (p.Val1594=)
c.4650G>A (p.Val1550=)
c.4401G>A (p.Val1467=)
c.4323G>A (p.Val1441=)
c.4299G>A (p.Val1433=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503326A>CCA390384712LTBP2c.4781T>G (p.Val1594Gly)
c.4649T>G (p.Val1550Gly)
c.4400T>G (p.Val1467Gly)
c.4322T>G (p.Val1441Gly)
c.4298T>G (p.Val1433Gly)
14g.74503326A>GCA390384713LTBP2c.4781T>C (p.Val1594Ala)
c.4649T>C (p.Val1550Ala)
c.4400T>C (p.Val1467Ala)
c.4322T>C (p.Val1441Ala)
c.4298T>C (p.Val1433Ala)
14g.74503326A>TCA390384715LTBP2c.4781T>A (p.Val1594Glu)
c.4649T>A (p.Val1550Glu)
c.4400T>A (p.Val1467Glu)
c.4322T>A (p.Val1441Glu)
c.4298T>A (p.Val1433Glu)
14g.74503327C>ACA390384717LTBP2c.4780G>T (p.Val1594Leu)
c.4648G>T (p.Val1550Leu)
c.4399G>T (p.Val1467Leu)
c.4321G>T (p.Val1441Leu)
c.4297G>T (p.Val1433Leu)
14g.74503327C=CA2147075249LTBP2c.4780G= (p.Val1594=)
c.4648G= (p.Val1550=)
c.4399G= (p.Val1467=)
c.4321G= (p.Val1441=)
c.4297G= (p.Val1433=)
14g.74503327C>GCA390384719LTBP2c.4780G>C (p.Val1594Leu)
c.4648G>C (p.Val1550Leu)
c.4399G>C (p.Val1467Leu)
c.4321G>C (p.Val1441Leu)
c.4297G>C (p.Val1433Leu)
14g.74503327C>TCA390384720LTBP2c.4780G>A (p.Val1594Met)
c.4648G>A (p.Val1550Met)
c.4399G>A (p.Val1467Met)
c.4321G>A (p.Val1441Met)
c.4297G>A (p.Val1433Met)
 dbSNP gnomAD v3 gnomAD v4
14g.74503328A=CA2147075253LTBP2c.4779T= (p.Asp1593=)
c.4647T= (p.Asp1549=)
c.4398T= (p.Asp1466=)
c.4320T= (p.Asp1440=)
c.4296T= (p.Asp1432=)
14g.74503328A>CCA390384723LTBP2c.4779T>G (p.Asp1593Glu)
c.4647T>G (p.Asp1549Glu)
c.4398T>G (p.Asp1466Glu)
c.4320T>G (p.Asp1440Glu)
c.4296T>G (p.Asp1432Glu)
14g.74503328A>GCA7268636LTBP2c.4779T>C (p.Asp1593=)
c.4647T>C (p.Asp1549=)
c.4398T>C (p.Asp1466=)
c.4320T>C (p.Asp1440=)
c.4296T>C (p.Asp1432=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503328A>TCA263578867LTBP2c.4779T>A (p.Asp1593Glu)
c.4647T>A (p.Asp1549Glu)
c.4398T>A (p.Asp1466Glu)
c.4320T>A (p.Asp1440Glu)
c.4296T>A (p.Asp1432Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503329T>ACA390384725LTBP2c.4778A>T (p.Asp1593Val)
c.4646A>T (p.Asp1549Val)
c.4397A>T (p.Asp1466Val)
c.4319A>T (p.Asp1440Val)
c.4295A>T (p.Asp1432Val)
14g.74503329T>CCA7268637LTBP2c.4778A>G (p.Asp1593Gly)
c.4646A>G (p.Asp1549Gly)
c.4397A>G (p.Asp1466Gly)
c.4319A>G (p.Asp1440Gly)
c.4295A>G (p.Asp1432Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503329T>GCA390384727LTBP2c.4778A>C (p.Asp1593Ala)
c.4646A>C (p.Asp1549Ala)
c.4397A>C (p.Asp1466Ala)
c.4319A>C (p.Asp1440Ala)
c.4295A>C (p.Asp1432Ala)
14g.74503329T=CA2147075256LTBP2c.4778A= (p.Asp1593=)
c.4646A= (p.Asp1549=)
c.4397A= (p.Asp1466=)
c.4319A= (p.Asp1440=)
c.4295A= (p.Asp1432=)
14g.74503330C>ACA390384731LTBP2c.4777G>T (p.Asp1593Tyr)
c.4645G>T (p.Asp1549Tyr)
c.4396G>T (p.Asp1466Tyr)
c.4318G>T (p.Asp1440Tyr)
c.4294G>T (p.Asp1432Tyr)
14g.74503330C>GCA390384733LTBP2c.4777G>C (p.Asp1593His)
c.4645G>C (p.Asp1549His)
c.4396G>C (p.Asp1466His)
c.4318G>C (p.Asp1440His)
c.4294G>C (p.Asp1432His)
14g.74503330C>TCA390384729LTBP2c.4777G>A (p.Asp1593Asn)
c.4645G>A (p.Asp1549Asn)
c.4396G>A (p.Asp1466Asn)
c.4318G>A (p.Asp1440Asn)
c.4294G>A (p.Asp1432Asn)
14g.74503331A=CA2147075258LTBP2c.4776T= (p.Asn1592=)
c.4644T= (p.Asn1548=)
c.4395T= (p.Asn1465=)
c.4317T= (p.Asn1439=)
c.4293T= (p.Asn1431=)
14g.74503331A>CCA390384735LTBP2c.4776T>G (p.Asn1592Lys)
c.4644T>G (p.Asn1548Lys)
c.4395T>G (p.Asn1465Lys)
c.4317T>G (p.Asn1439Lys)
c.4293T>G (p.Asn1431Lys)
14g.74503331A>GCA7268638LTBP2c.4776T>C (p.Asn1592=)
c.4644T>C (p.Asn1548=)
c.4395T>C (p.Asn1465=)
c.4317T>C (p.Asn1439=)
c.4293T>C (p.Asn1431=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503331A>TCA390384736LTBP2c.4776T>A (p.Asn1592Lys)
c.4644T>A (p.Asn1548Lys)
c.4395T>A (p.Asn1465Lys)
c.4317T>A (p.Asn1439Lys)
c.4293T>A (p.Asn1431Lys)
14g.74503332T>ACA390384737LTBP2c.4775A>T (p.Asn1592Ile)
c.4643A>T (p.Asn1548Ile)
c.4394A>T (p.Asn1465Ile)
c.4316A>T (p.Asn1439Ile)
c.4292A>T (p.Asn1431Ile)
14g.74503332T>CCA390384739LTBP2c.4775A>G (p.Asn1592Ser)
c.4643A>G (p.Asn1548Ser)
c.4394A>G (p.Asn1465Ser)
c.4316A>G (p.Asn1439Ser)
c.4292A>G (p.Asn1431Ser)
 gnomAD v4
14g.74503332T>GCA390384738LTBP2c.4775A>C (p.Asn1592Thr)
c.4643A>C (p.Asn1548Thr)
c.4394A>C (p.Asn1465Thr)
c.4316A>C (p.Asn1439Thr)
c.4292A>C (p.Asn1431Thr)
14g.74503333T>ACA390384740LTBP2c.4774A>T (p.Asn1592Tyr)
c.4642A>T (p.Asn1548Tyr)
c.4393A>T (p.Asn1465Tyr)
c.4315A>T (p.Asn1439Tyr)
c.4291A>T (p.Asn1431Tyr)
14g.74503333T>CCA390384741LTBP2c.4774A>G (p.Asn1592Asp)
c.4642A>G (p.Asn1548Asp)
c.4393A>G (p.Asn1465Asp)
c.4315A>G (p.Asn1439Asp)
c.4291A>G (p.Asn1431Asp)
14g.74503333T>GCA390384742LTBP2c.4774A>C (p.Asn1592His)
c.4642A>C (p.Asn1548His)
c.4393A>C (p.Asn1465His)
c.4315A>C (p.Asn1439His)
c.4291A>C (p.Asn1431His)
14g.74503334G>ACA7268639LTBP2c.4773C>T (p.Thr1591=)
c.4641C>T (p.Thr1547=)
c.4392C>T (p.Thr1464=)
c.4314C>T (p.Thr1438=)
c.4290C>T (p.Thr1430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503334G>CCA487267150LTBP2c.4773C>G (p.Thr1591=)
c.4641C>G (p.Thr1547=)
c.4392C>G (p.Thr1464=)
c.4314C>G (p.Thr1438=)
c.4290C>G (p.Thr1430=)
14g.74503334G=CA2147075260LTBP2c.4773C= (p.Thr1591=)
c.4641C= (p.Thr1547=)
c.4392C= (p.Thr1464=)
c.4314C= (p.Thr1438=)
c.4290C= (p.Thr1430=)
14g.74503334G>TCA487267149LTBP2c.4773C>A (p.Thr1591=)
c.4641C>A (p.Thr1547=)
c.4392C>A (p.Thr1464=)
c.4314C>A (p.Thr1438=)
c.4290C>A (p.Thr1430=)
14g.74503335G>ACA7268640LTBP2c.4772C>T (p.Thr1591Ile)
c.4640C>T (p.Thr1547Ile)
c.4391C>T (p.Thr1464Ile)
c.4313C>T (p.Thr1438Ile)
c.4289C>T (p.Thr1430Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503335G>CCA390384743LTBP2c.4772C>G (p.Thr1591Ser)
c.4640C>G (p.Thr1547Ser)
c.4391C>G (p.Thr1464Ser)
c.4313C>G (p.Thr1438Ser)
c.4289C>G (p.Thr1430Ser)
14g.74503335G=CA2147075262LTBP2c.4772C= (p.Thr1591=)
c.4640C= (p.Thr1547=)
c.4391C= (p.Thr1464=)
c.4313C= (p.Thr1438=)
c.4289C= (p.Thr1430=)
14g.74503335G>TCA390384744LTBP2c.4772C>A (p.Thr1591Asn)
c.4640C>A (p.Thr1547Asn)
c.4391C>A (p.Thr1464Asn)
c.4313C>A (p.Thr1438Asn)
c.4289C>A (p.Thr1430Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74503336T>ACA390384747LTBP2c.4771A>T (p.Thr1591Ser)
c.4639A>T (p.Thr1547Ser)
c.4390A>T (p.Thr1464Ser)
c.4312A>T (p.Thr1438Ser)
c.4288A>T (p.Thr1430Ser)
14g.74503336T>CCA390384748LTBP2c.4771A>G (p.Thr1591Ala)
c.4639A>G (p.Thr1547Ala)
c.4390A>G (p.Thr1464Ala)
c.4312A>G (p.Thr1438Ala)
c.4288A>G (p.Thr1430Ala)
14g.74503336T>GCA390384749LTBP2c.4771A>C (p.Thr1591Pro)
c.4639A>C (p.Thr1547Pro)
c.4390A>C (p.Thr1464Pro)
c.4312A>C (p.Thr1438Pro)
c.4288A>C (p.Thr1430Pro)
14g.74503337G>ACA487267151LTBP2c.4770C>T (p.Val1590=)
c.4638C>T (p.Val1546=)
c.4389C>T (p.Val1463=)
c.4311C>T (p.Val1437=)
c.4287C>T (p.Val1429=)
14g.74503337G>CCA487267152LTBP2c.4770C>G (p.Val1590=)
c.4638C>G (p.Val1546=)
c.4389C>G (p.Val1463=)
c.4311C>G (p.Val1437=)
c.4287C>G (p.Val1429=)
14g.74503337G>TCA487267153LTBP2c.4770C>A (p.Val1590=)
c.4638C>A (p.Val1546=)
c.4389C>A (p.Val1463=)
c.4311C>A (p.Val1437=)
c.4287C>A (p.Val1429=)
14g.74503338A=CA2147075264LTBP2c.4769T= (p.Val1590=)
c.4637T= (p.Val1546=)
c.4388T= (p.Val1463=)
c.4310T= (p.Val1437=)
c.4286T= (p.Val1429=)
14g.74503338A>CCA390384752LTBP2c.4769T>G (p.Val1590Gly)
c.4637T>G (p.Val1546Gly)
c.4388T>G (p.Val1463Gly)
c.4310T>G (p.Val1437Gly)
c.4286T>G (p.Val1429Gly)
14g.74503338A>GCA7268641LTBP2c.4769T>C (p.Val1590Ala)
c.4637T>C (p.Val1546Ala)
c.4388T>C (p.Val1463Ala)
c.4310T>C (p.Val1437Ala)
c.4286T>C (p.Val1429Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503338A>TCA390384750LTBP2c.4769T>A (p.Val1590Asp)
c.4637T>A (p.Val1546Asp)
c.4388T>A (p.Val1463Asp)
c.4310T>A (p.Val1437Asp)
c.4286T>A (p.Val1429Asp)
14g.74503339C>ACA390384754LTBP2c.4768G>T (p.Val1590Phe)
c.4636G>T (p.Val1546Phe)
c.4387G>T (p.Val1463Phe)
c.4309G>T (p.Val1437Phe)
c.4285G>T (p.Val1429Phe)
14g.74503339C=CA2147075266LTBP2c.4768G= (p.Val1590=)
c.4636G= (p.Val1546=)
c.4387G= (p.Val1463=)
c.4309G= (p.Val1437=)
c.4285G= (p.Val1429=)
14g.74503339C>GCA390384755LTBP2c.4768G>C (p.Val1590Leu)
c.4636G>C (p.Val1546Leu)
c.4387G>C (p.Val1463Leu)
c.4309G>C (p.Val1437Leu)
c.4285G>C (p.Val1429Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503339C>TCA390384757LTBP2c.4768G>A (p.Val1590Ile)
c.4636G>A (p.Val1546Ile)
c.4387G>A (p.Val1463Ile)
c.4309G>A (p.Val1437Ile)
c.4285G>A (p.Val1429Ile)
14g.74503340T>ACA390384759LTBP2c.4767A>T (p.Lys1589Asn)
c.4635A>T (p.Lys1545Asn)
c.4386A>T (p.Lys1462Asn)
c.4308A>T (p.Lys1436Asn)
c.4284A>T (p.Lys1428Asn)
14g.74503340T>CCA487267154LTBP2c.4767A>G (p.Lys1589=)
c.4635A>G (p.Lys1545=)
c.4386A>G (p.Lys1462=)
c.4308A>G (p.Lys1436=)
c.4284A>G (p.Lys1428=)
 dbSNP gnomAD v3 gnomAD v4
14g.74503340T>GCA390384760LTBP2c.4767A>C (p.Lys1589Asn)
c.4635A>C (p.Lys1545Asn)
c.4386A>C (p.Lys1462Asn)
c.4308A>C (p.Lys1436Asn)
c.4284A>C (p.Lys1428Asn)
14g.74503340T=CA2147075269LTBP2c.4767A= (p.Lys1589=)
c.4635A= (p.Lys1545=)
c.4386A= (p.Lys1462=)
c.4308A= (p.Lys1436=)
c.4284A= (p.Lys1428=)
14g.74503345dupCA708515169LTBP2c.4767dup (p.Val1590SerfsTer4)
c.4635dup (p.Val1546SerfsTer4)
c.4386dup (p.Val1463SerfsTer4)
c.4308dup (p.Val1437SerfsTer4)
c.4284dup (p.Val1429SerfsTer4)
 dbSNP gnomAD v4
14g.74503345delCA645569595LTBP2c.4767del (p.Val1590SerfsTer?)
c.4635del (p.Val1546SerfsTer?)
c.4386del (p.Val1463SerfsTer?)
c.4308del (p.Val1437SerfsTer?)
c.4284del (p.Val1429SerfsTer?)
 gnomAD v4 COSMIC
14g.74503341T>ACA390384762LTBP2c.4766A>T (p.Lys1589Ile)
c.4634A>T (p.Lys1545Ile)
c.4385A>T (p.Lys1462Ile)
c.4307A>T (p.Lys1436Ile)
c.4283A>T (p.Lys1428Ile)
14g.74503341T>CCA390384763LTBP2c.4766A>G (p.Lys1589Arg)
c.4634A>G (p.Lys1545Arg)
c.4385A>G (p.Lys1462Arg)
c.4307A>G (p.Lys1436Arg)
c.4283A>G (p.Lys1428Arg)
 gnomAD v4
14g.74503341T>GCA390384765LTBP2c.4766A>C (p.Lys1589Thr)
c.4634A>C (p.Lys1545Thr)
c.4385A>C (p.Lys1462Thr)
c.4307A>C (p.Lys1436Thr)
c.4283A>C (p.Lys1428Thr)
14g.74503342T>ACA390384767LTBP2c.4765A>T (p.Lys1589Ter)
c.4633A>T (p.Lys1545Ter)
c.4384A>T (p.Lys1462Ter)
c.4306A>T (p.Lys1436Ter)
c.4282A>T (p.Lys1428Ter)
14g.74503342T>CCA390384768LTBP2c.4765A>G (p.Lys1589Glu)
c.4633A>G (p.Lys1545Glu)
c.4384A>G (p.Lys1462Glu)
c.4306A>G (p.Lys1436Glu)
c.4282A>G (p.Lys1428Glu)
14g.74503342T>GCA390384770LTBP2c.4765A>C (p.Lys1589Gln)
c.4633A>C (p.Lys1545Gln)
c.4384A>C (p.Lys1462Gln)
c.4306A>C (p.Lys1436Gln)
c.4282A>C (p.Lys1428Gln)
14g.74503343T>ACA390384773LTBP2c.4764A>T (p.Lys1588Asn)
c.4632A>T (p.Lys1544Asn)
c.4383A>T (p.Lys1461Asn)
c.4305A>T (p.Lys1435Asn)
c.4281A>T (p.Lys1427Asn)
14g.74503343T>CCA487267155LTBP2c.4764A>G (p.Lys1588=)
c.4632A>G (p.Lys1544=)
c.4383A>G (p.Lys1461=)
c.4305A>G (p.Lys1435=)
c.4281A>G (p.Lys1427=)
14g.74503343T>GCA390384772LTBP2c.4764A>C (p.Lys1588Asn)
c.4632A>C (p.Lys1544Asn)
c.4383A>C (p.Lys1461Asn)
c.4305A>C (p.Lys1435Asn)
c.4281A>C (p.Lys1427Asn)
14g.74503344T>ACA390384774LTBP2c.4763A>T (p.Lys1588Ile)
c.4631A>T (p.Lys1544Ile)
c.4382A>T (p.Lys1461Ile)
c.4304A>T (p.Lys1435Ile)
c.4280A>T (p.Lys1427Ile)
14g.74503344T>CCA7268642LTBP2c.4763A>G (p.Lys1588Arg)
c.4631A>G (p.Lys1544Arg)
c.4382A>G (p.Lys1461Arg)
c.4304A>G (p.Lys1435Arg)
c.4280A>G (p.Lys1427Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503344T>GCA390384776LTBP2c.4763A>C (p.Lys1588Thr)
c.4631A>C (p.Lys1544Thr)
c.4382A>C (p.Lys1461Thr)
c.4304A>C (p.Lys1435Thr)
c.4280A>C (p.Lys1427Thr)
14g.74503344T=CA2147075271LTBP2c.4763A= (p.Lys1588=)
c.4631A= (p.Lys1544=)
c.4382A= (p.Lys1461=)
c.4304A= (p.Lys1435=)
c.4280A= (p.Lys1427=)
14g.74503345T>ACA390384779LTBP2c.4762A>T (p.Lys1588Ter)
c.4630A>T (p.Lys1544Ter)
c.4381A>T (p.Lys1461Ter)
c.4303A>T (p.Lys1435Ter)
c.4279A>T (p.Lys1427Ter)
14g.74503345T>CCA390384780LTBP2c.4762A>G (p.Lys1588Glu)
c.4630A>G (p.Lys1544Glu)
c.4381A>G (p.Lys1461Glu)
c.4303A>G (p.Lys1435Glu)
c.4279A>G (p.Lys1427Glu)
14g.74503345T>GCA390384781LTBP2c.4762A>C (p.Lys1588Gln)
c.4630A>C (p.Lys1544Gln)
c.4381A>C (p.Lys1461Gln)
c.4303A>C (p.Lys1435Gln)
c.4279A>C (p.Lys1427Gln)
14g.74503346C>ACA390384783LTBP2c.4761G>T (p.Trp1587Cys)
c.4629G>T (p.Trp1543Cys)
c.4380G>T (p.Trp1460Cys)
c.4302G>T (p.Trp1434Cys)
c.4278G>T (p.Trp1426Cys)
14g.74503346C>GCA390384785LTBP2c.4761G>C (p.Trp1587Cys)
c.4629G>C (p.Trp1543Cys)
c.4380G>C (p.Trp1460Cys)
c.4302G>C (p.Trp1434Cys)
c.4278G>C (p.Trp1426Cys)
14g.74503346C>TCA390384787LTBP2c.4761G>A (p.Trp1587Ter)
c.4629G>A (p.Trp1543Ter)
c.4380G>A (p.Trp1460Ter)
c.4302G>A (p.Trp1434Ter)
c.4278G>A (p.Trp1426Ter)
 COSMIC
14g.74503347C>ACA390384788LTBP2c.4760G>T (p.Trp1587Leu)
c.4628G>T (p.Trp1543Leu)
c.4379G>T (p.Trp1460Leu)
c.4301G>T (p.Trp1434Leu)
c.4277G>T (p.Trp1426Leu)
 gnomAD v4
14g.74503347C>GCA390384789LTBP2c.4760G>C (p.Trp1587Ser)
c.4628G>C (p.Trp1543Ser)
c.4379G>C (p.Trp1460Ser)
c.4301G>C (p.Trp1434Ser)
c.4277G>C (p.Trp1426Ser)
14g.74503347C>TCA390384791LTBP2c.4760G>A (p.Trp1587Ter)
c.4628G>A (p.Trp1543Ter)
c.4379G>A (p.Trp1460Ter)
c.4301G>A (p.Trp1434Ter)
c.4277G>A (p.Trp1426Ter)
14g.74503348A>CCA390384797LTBP2c.4759T>G (p.Trp1587Gly)
c.4627T>G (p.Trp1543Gly)
c.4378T>G (p.Trp1460Gly)
c.4300T>G (p.Trp1434Gly)
c.4276T>G (p.Trp1426Gly)
14g.74503348A>GCA390384793LTBP2c.4759T>C (p.Trp1587Arg)
c.4627T>C (p.Trp1543Arg)
c.4378T>C (p.Trp1460Arg)
c.4300T>C (p.Trp1434Arg)
c.4276T>C (p.Trp1426Arg)
14g.74503348A>TCA390384794LTBP2c.4759T>A (p.Trp1587Arg)
c.4627T>A (p.Trp1543Arg)
c.4378T>A (p.Trp1460Arg)
c.4300T>A (p.Trp1434Arg)
c.4276T>A (p.Trp1426Arg)
14g.74503349G>ACA487267156LTBP2c.4758C>T (p.Cys1586=)
c.4626C>T (p.Cys1542=)
c.4377C>T (p.Cys1459=)
c.4299C>T (p.Cys1433=)
c.4275C>T (p.Cys1425=)
14g.74503349G>CCA390384799LTBP2c.4758C>G (p.Cys1586Trp)
c.4626C>G (p.Cys1542Trp)
c.4377C>G (p.Cys1459Trp)
c.4299C>G (p.Cys1433Trp)
c.4275C>G (p.Cys1425Trp)
14g.74503349G>TCA390384800LTBP2c.4758C>A (p.Cys1586Ter)
c.4626C>A (p.Cys1542Ter)
c.4377C>A (p.Cys1459Ter)
c.4299C>A (p.Cys1433Ter)
c.4275C>A (p.Cys1425Ter)
14g.74503350C>ACA390384803LTBP2c.4757G>T (p.Cys1586Phe)
c.4625G>T (p.Cys1542Phe)
c.4376G>T (p.Cys1459Phe)
c.4298G>T (p.Cys1433Phe)
c.4274G>T (p.Cys1425Phe)
14g.74503350C>GCA390384804LTBP2c.4757G>C (p.Cys1586Ser)
c.4625G>C (p.Cys1542Ser)
c.4376G>C (p.Cys1459Ser)
c.4298G>C (p.Cys1433Ser)
c.4274G>C (p.Cys1425Ser)
14g.74503350C>TCA390384806LTBP2c.4757G>A (p.Cys1586Tyr)
c.4625G>A (p.Cys1542Tyr)
c.4376G>A (p.Cys1459Tyr)
c.4298G>A (p.Cys1433Tyr)
c.4274G>A (p.Cys1425Tyr)
14g.74503351A>CCA390384807LTBP2c.4756T>G (p.Cys1586Gly)
c.4624T>G (p.Cys1542Gly)
c.4375T>G (p.Cys1459Gly)
c.4297T>G (p.Cys1433Gly)
c.4273T>G (p.Cys1425Gly)
14g.74503351A>GCA390384809LTBP2c.4756T>C (p.Cys1586Arg)
c.4624T>C (p.Cys1542Arg)
c.4375T>C (p.Cys1459Arg)
c.4297T>C (p.Cys1433Arg)
c.4273T>C (p.Cys1425Arg)
14g.74503351A>TCA390384811LTBP2c.4756T>A (p.Cys1586Ser)
c.4624T>A (p.Cys1542Ser)
c.4375T>A (p.Cys1459Ser)
c.4297T>A (p.Cys1433Ser)
c.4273T>A (p.Cys1425Ser)
14g.74503352G>ACA487267157LTBP2c.4755C>T (p.Ile1585=)
c.4623C>T (p.Ile1541=)
c.4374C>T (p.Ile1458=)
c.4296C>T (p.Ile1432=)
c.4272C>T (p.Ile1424=)
14g.74503352G>CCA390384812LTBP2c.4755C>G (p.Ile1585Met)
c.4623C>G (p.Ile1541Met)
c.4374C>G (p.Ile1458Met)
c.4296C>G (p.Ile1432Met)
c.4272C>G (p.Ile1424Met)
14g.74503352G=CA2147075273LTBP2c.4755C= (p.Ile1585=)
c.4623C= (p.Ile1541=)
c.4374C= (p.Ile1458=)
c.4296C= (p.Ile1432=)
c.4272C= (p.Ile1424=)
14g.74503352G>TCA487267158LTBP2c.4755C>A (p.Ile1585=)
c.4623C>A (p.Ile1541=)
c.4374C>A (p.Ile1458=)
c.4296C>A (p.Ile1432=)
c.4272C>A (p.Ile1424=)
 dbSNP gnomAD v3 gnomAD v4
14g.74503353A=CA2147075275LTBP2c.4754T= (p.Ile1585=)
c.4622T= (p.Ile1541=)
c.4373T= (p.Ile1458=)
c.4295T= (p.Ile1432=)
c.4271T= (p.Ile1424=)
14g.74503353A>CCA390384815LTBP2c.4754T>G (p.Ile1585Ser)
c.4622T>G (p.Ile1541Ser)
c.4373T>G (p.Ile1458Ser)
c.4295T>G (p.Ile1432Ser)
c.4271T>G (p.Ile1424Ser)
14g.74503353A>GCA263578900LTBP2c.4754T>C (p.Ile1585Thr)
c.4622T>C (p.Ile1541Thr)
c.4373T>C (p.Ile1458Thr)
c.4295T>C (p.Ile1432Thr)
c.4271T>C (p.Ile1424Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.74503353A>TCA390384817LTBP2c.4754T>A (p.Ile1585Asn)
c.4622T>A (p.Ile1541Asn)
c.4373T>A (p.Ile1458Asn)
c.4295T>A (p.Ile1432Asn)
c.4271T>A (p.Ile1424Asn)
14g.74503354T>ACA390384819LTBP2c.4753A>T (p.Ile1585Phe)
c.4621A>T (p.Ile1541Phe)
c.4372A>T (p.Ile1458Phe)
c.4294A>T (p.Ile1432Phe)
c.4270A>T (p.Ile1424Phe)
14g.74503354T>CCA390384821LTBP2c.4753A>G (p.Ile1585Val)
c.4621A>G (p.Ile1541Val)
c.4372A>G (p.Ile1458Val)
c.4294A>G (p.Ile1432Val)
c.4270A>G (p.Ile1424Val)
 dbSNP
14g.74503354T>GCA390384818LTBP2c.4753A>C (p.Ile1585Leu)
c.4621A>C (p.Ile1541Leu)
c.4372A>C (p.Ile1458Leu)
c.4294A>C (p.Ile1432Leu)
c.4270A>C (p.Ile1424Leu)
14g.74503355G>ACA487267159LTBP2c.4752C>T (p.Asp1584=)
c.4620C>T (p.Asp1540=)
c.4371C>T (p.Asp1457=)
c.4293C>T (p.Asp1431=)
c.4269C>T (p.Asp1423=)
 ClinVar
14g.74503355G>CCA390384822LTBP2c.4752C>G (p.Asp1584Glu)
c.4620C>G (p.Asp1540Glu)
c.4371C>G (p.Asp1457Glu)
c.4293C>G (p.Asp1431Glu)
c.4269C>G (p.Asp1423Glu)
14g.74503355G>TCA390384824LTBP2c.4752C>A (p.Asp1584Glu)
c.4620C>A (p.Asp1540Glu)
c.4371C>A (p.Asp1457Glu)
c.4293C>A (p.Asp1431Glu)
c.4269C>A (p.Asp1423Glu)
14g.74503356T>ACA390384826LTBP2c.4751A>T (p.Asp1584Val)
c.4619A>T (p.Asp1540Val)
c.4370A>T (p.Asp1457Val)
c.4292A>T (p.Asp1431Val)
c.4268A>T (p.Asp1423Val)
14g.74503356T>CCA390384827LTBP2c.4751A>G (p.Asp1584Gly)
c.4619A>G (p.Asp1540Gly)
c.4370A>G (p.Asp1457Gly)
c.4292A>G (p.Asp1431Gly)
c.4268A>G (p.Asp1423Gly)
14g.74503356T>GCA390384829LTBP2c.4751A>C (p.Asp1584Ala)
c.4619A>C (p.Asp1540Ala)
c.4370A>C (p.Asp1457Ala)
c.4292A>C (p.Asp1431Ala)
c.4268A>C (p.Asp1423Ala)
14g.74503357C>ACA390384834LTBP2c.4750G>T (p.Asp1584Tyr)
c.4618G>T (p.Asp1540Tyr)
c.4369G>T (p.Asp1457Tyr)
c.4291G>T (p.Asp1431Tyr)
c.4267G>T (p.Asp1423Tyr)
14g.74503357C>GCA390384832LTBP2c.4750G>C (p.Asp1584His)
c.4618G>C (p.Asp1540His)
c.4369G>C (p.Asp1457His)
c.4291G>C (p.Asp1431His)
c.4267G>C (p.Asp1423His)
14g.74503357C>TCA390384830LTBP2c.4750G>A (p.Asp1584Asn)
c.4618G>A (p.Asp1540Asn)
c.4369G>A (p.Asp1457Asn)
c.4291G>A (p.Asp1431Asn)
c.4267G>A (p.Asp1423Asn)
14g.74503358C>ACA390384836LTBP2c.4749G>T (p.Met1583Ile)
c.4617G>T (p.Met1539Ile)
c.4368G>T (p.Met1456Ile)
c.4290G>T (p.Met1430Ile)
c.4266G>T (p.Met1422Ile)
14g.74503358C>GCA390384837LTBP2c.4749G>C (p.Met1583Ile)
c.4617G>C (p.Met1539Ile)
c.4368G>C (p.Met1456Ile)
c.4290G>C (p.Met1430Ile)
c.4266G>C (p.Met1422Ile)
14g.74503358C>TCA390384839LTBP2c.4749G>A (p.Met1583Ile)
c.4617G>A (p.Met1539Ile)
c.4368G>A (p.Met1456Ile)
c.4290G>A (p.Met1430Ile)
c.4266G>A (p.Met1422Ile)
 gnomAD v4
14g.74503359A=CA2147075277LTBP2c.4748T= (p.Met1583=)
c.4616T= (p.Met1539=)
c.4367T= (p.Met1456=)
c.4289T= (p.Met1430=)
c.4265T= (p.Met1422=)
14g.74503359A>CCA390384841LTBP2c.4748T>G (p.Met1583Arg)
c.4616T>G (p.Met1539Arg)
c.4367T>G (p.Met1456Arg)
c.4289T>G (p.Met1430Arg)
c.4265T>G (p.Met1422Arg)
 gnomAD v4
14g.74503359A>GCA390384843LTBP2c.4748T>C (p.Met1583Thr)
c.4616T>C (p.Met1539Thr)
c.4367T>C (p.Met1456Thr)
c.4289T>C (p.Met1430Thr)
c.4265T>C (p.Met1422Thr)
 dbSNP gnomAD v4
14g.74503359A>TCA390384844LTBP2c.4748T>A (p.Met1583Lys)
c.4616T>A (p.Met1539Lys)
c.4367T>A (p.Met1456Lys)
c.4289T>A (p.Met1430Lys)
c.4265T>A (p.Met1422Lys)
14g.74503360T>ACA390384849LTBP2c.4747A>T (p.Met1583Leu)
c.4615A>T (p.Met1539Leu)
c.4366A>T (p.Met1456Leu)
c.4288A>T (p.Met1430Leu)
c.4264A>T (p.Met1422Leu)
 gnomAD v4
14g.74503360T>CCA390384846LTBP2c.4747A>G (p.Met1583Val)
c.4615A>G (p.Met1539Val)
c.4366A>G (p.Met1456Val)
c.4288A>G (p.Met1430Val)
c.4264A>G (p.Met1422Val)
14g.74503360T>GCA390384848LTBP2c.4747A>C (p.Met1583Leu)
c.4615A>C (p.Met1539Leu)
c.4366A>C (p.Met1456Leu)
c.4288A>C (p.Met1430Leu)
c.4264A>C (p.Met1422Leu)
14g.74503361G>ACA487267160LTBP2c.4746C>T (p.His1582=)
c.4614C>T (p.His1538=)
c.4365C>T (p.His1455=)
c.4287C>T (p.His1429=)
c.4263C>T (p.His1421=)
 gnomAD v4
14g.74503361G>CCA390384850LTBP2c.4746C>G (p.His1582Gln)
c.4614C>G (p.His1538Gln)
c.4365C>G (p.His1455Gln)
c.4287C>G (p.His1429Gln)
c.4263C>G (p.His1421Gln)
14g.74503361G=CA2147075279LTBP2c.4746C= (p.His1582=)
c.4614C= (p.His1538=)
c.4365C= (p.His1455=)
c.4287C= (p.His1429=)
c.4263C= (p.His1421=)
14g.74503361G>TCA390384851LTBP2c.4746C>A (p.His1582Gln)
c.4614C>A (p.His1538Gln)
c.4365C>A (p.His1455Gln)
c.4287C>A (p.His1429Gln)
c.4263C>A (p.His1421Gln)
 dbSNP
14g.74503362T>ACA390384854LTBP2c.4745A>T (p.His1582Leu)
c.4613A>T (p.His1538Leu)
c.4364A>T (p.His1455Leu)
c.4286A>T (p.His1429Leu)
c.4262A>T (p.His1421Leu)
14g.74503362T>CCA390384856LTBP2c.4745A>G (p.His1582Arg)
c.4613A>G (p.His1538Arg)
c.4364A>G (p.His1455Arg)
c.4286A>G (p.His1429Arg)
c.4262A>G (p.His1421Arg)
14g.74503362T>GCA390384857LTBP2c.4745A>C (p.His1582Pro)
c.4613A>C (p.His1538Pro)
c.4364A>C (p.His1455Pro)
c.4286A>C (p.His1429Pro)
c.4262A>C (p.His1421Pro)
14g.74503363G>ACA7268643LTBP2c.4744C>T (p.His1582Tyr)
c.4612C>T (p.His1538Tyr)
c.4363C>T (p.His1455Tyr)
c.4285C>T (p.His1429Tyr)
c.4261C>T (p.His1421Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503363G>CCA390384860LTBP2c.4744C>G (p.His1582Asp)
c.4612C>G (p.His1538Asp)
c.4363C>G (p.His1455Asp)
c.4285C>G (p.His1429Asp)
c.4261C>G (p.His1421Asp)
14g.74503363G=CA2147075281LTBP2c.4744C= (p.His1582=)
c.4612C= (p.His1538=)
c.4363C= (p.His1455=)
c.4285C= (p.His1429=)
c.4261C= (p.His1421=)
14g.74503363G>TCA390384862LTBP2c.4744C>A (p.His1582Asn)
c.4612C>A (p.His1538Asn)
c.4363C>A (p.His1455Asn)
c.4285C>A (p.His1429Asn)
c.4261C>A (p.His1421Asn)
14g.74503364G>ACA487267161LTBP2c.4743C>T (p.Ile1581=)
c.4611C>T (p.Ile1537=)
c.4362C>T (p.Ile1454=)
c.4284C>T (p.Ile1428=)
c.4260C>T (p.Ile1420=)
14g.74503364G>CCA390384864LTBP2c.4743C>G (p.Ile1581Met)
c.4611C>G (p.Ile1537Met)
c.4362C>G (p.Ile1454Met)
c.4284C>G (p.Ile1428Met)
c.4260C>G (p.Ile1420Met)
14g.74503364G=CA2147075283LTBP2c.4743C= (p.Ile1581=)
c.4611C= (p.Ile1537=)
c.4362C= (p.Ile1454=)
c.4284C= (p.Ile1428=)
c.4260C= (p.Ile1420=)
14g.74503364G>TCA7268644LTBP2c.4743C>A (p.Ile1581=)
c.4611C>A (p.Ile1537=)
c.4362C>A (p.Ile1454=)
c.4284C>A (p.Ile1428=)
c.4260C>A (p.Ile1420=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503365A=CA2147075285LTBP2c.4742T= (p.Ile1581=)
c.4610T= (p.Ile1537=)
c.4361T= (p.Ile1454=)
c.4283T= (p.Ile1428=)
c.4259T= (p.Ile1420=)
14g.74503365A>CCA390384867LTBP2c.4742T>G (p.Ile1581Ser)
c.4610T>G (p.Ile1537Ser)
c.4361T>G (p.Ile1454Ser)
c.4283T>G (p.Ile1428Ser)
c.4259T>G (p.Ile1420Ser)
14g.74503365A>GCA390384869LTBP2c.4742T>C (p.Ile1581Thr)
c.4610T>C (p.Ile1537Thr)
c.4361T>C (p.Ile1454Thr)
c.4283T>C (p.Ile1428Thr)
c.4259T>C (p.Ile1420Thr)
 dbSNP
14g.74503365A>TCA390384871LTBP2c.4742T>A (p.Ile1581Asn)
c.4610T>A (p.Ile1537Asn)
c.4361T>A (p.Ile1454Asn)
c.4283T>A (p.Ile1428Asn)
c.4259T>A (p.Ile1420Asn)
14g.74503366T>ACA390384873LTBP2c.4741A>T (p.Ile1581Phe)
c.4609A>T (p.Ile1537Phe)
c.4360A>T (p.Ile1454Phe)
c.4282A>T (p.Ile1428Phe)
c.4258A>T (p.Ile1420Phe)
14g.74503366T>CCA390384877LTBP2c.4741A>G (p.Ile1581Val)
c.4609A>G (p.Ile1537Val)
c.4360A>G (p.Ile1454Val)
c.4282A>G (p.Ile1428Val)
c.4258A>G (p.Ile1420Val)
14g.74503366T>GCA390384874LTBP2c.4741A>C (p.Ile1581Leu)
c.4609A>C (p.Ile1537Leu)
c.4360A>C (p.Ile1454Leu)
c.4282A>C (p.Ile1428Leu)
c.4258A>C (p.Ile1420Leu)
14g.74503367G>ACA487267162LTBP2c.4740C>T (p.Asp1580=)
c.4608C>T (p.Asp1536=)
c.4359C>T (p.Asp1453=)
c.4281C>T (p.Asp1427=)
c.4257C>T (p.Asp1419=)
 gnomAD v4
14g.74503367G>CCA390384878LTBP2c.4740C>G (p.Asp1580Glu)
c.4608C>G (p.Asp1536Glu)
c.4359C>G (p.Asp1453Glu)
c.4281C>G (p.Asp1427Glu)
c.4257C>G (p.Asp1419Glu)
14g.74503367G>TCA390384880LTBP2c.4740C>A (p.Asp1580Glu)
c.4608C>A (p.Asp1536Glu)
c.4359C>A (p.Asp1453Glu)
c.4281C>A (p.Asp1427Glu)
c.4257C>A (p.Asp1419Glu)
14g.74503368T>ACA390384882LTBP2c.4739A>T (p.Asp1580Val)
c.4607A>T (p.Asp1536Val)
c.4358A>T (p.Asp1453Val)
c.4280A>T (p.Asp1427Val)
c.4256A>T (p.Asp1419Val)
14g.74503368T>CCA390384884LTBP2c.4739A>G (p.Asp1580Gly)
c.4607A>G (p.Asp1536Gly)
c.4358A>G (p.Asp1453Gly)
c.4280A>G (p.Asp1427Gly)
c.4256A>G (p.Asp1419Gly)
14g.74503368T>GCA390384885LTBP2c.4739A>C (p.Asp1580Ala)
c.4607A>C (p.Asp1536Ala)
c.4358A>C (p.Asp1453Ala)
c.4280A>C (p.Asp1427Ala)
c.4256A>C (p.Asp1419Ala)
14g.74503369C>ACA390384889LTBP2c.4738G>T (p.Asp1580Tyr)
c.4606G>T (p.Asp1536Tyr)
c.4357G>T (p.Asp1453Tyr)
c.4279G>T (p.Asp1427Tyr)
c.4255G>T (p.Asp1419Tyr)
14g.74503369C=CA2147075287LTBP2c.4738G= (p.Asp1580=)
c.4606G= (p.Asp1536=)
c.4357G= (p.Asp1453=)
c.4279G= (p.Asp1427=)
c.4255G= (p.Asp1419=)
14g.74503369C>GCA390384887LTBP2c.4738G>C (p.Asp1580His)
c.4606G>C (p.Asp1536His)
c.4357G>C (p.Asp1453His)
c.4279G>C (p.Asp1427His)
c.4255G>C (p.Asp1419His)
14g.74503369C>TCA7268645LTBP2c.4738G>A (p.Asp1580Asn)
c.4606G>A (p.Asp1536Asn)
c.4357G>A (p.Asp1453Asn)
c.4279G>A (p.Asp1427Asn)
c.4255G>A (p.Asp1419Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503370G>ACA7268646LTBP2c.4737C>T (p.His1579=)
c.4605C>T (p.His1535=)
c.4356C>T (p.His1452=)
c.4278C>T (p.His1426=)
c.4254C>T (p.His1418=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503370G>CCA390384892LTBP2c.4737C>G (p.His1579Gln)
c.4605C>G (p.His1535Gln)
c.4356C>G (p.His1452Gln)
c.4278C>G (p.His1426Gln)
c.4254C>G (p.His1418Gln)
14g.74503370G=CA2147075288LTBP2c.4737C= (p.His1579=)
c.4605C= (p.His1535=)
c.4356C= (p.His1452=)
c.4278C= (p.His1426=)
c.4254C= (p.His1418=)
14g.74503370G>TCA390384894LTBP2c.4737C>A (p.His1579Gln)
c.4605C>A (p.His1535Gln)
c.4356C>A (p.His1452Gln)
c.4278C>A (p.His1426Gln)
c.4254C>A (p.His1418Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503371T>ACA390384895LTBP2c.4736A>T (p.His1579Leu)
c.4604A>T (p.His1535Leu)
c.4355A>T (p.His1452Leu)
c.4277A>T (p.His1426Leu)
c.4253A>T (p.His1418Leu)
14g.74503371T>CCA390384897LTBP2c.4736A>G (p.His1579Arg)
c.4604A>G (p.His1535Arg)
c.4355A>G (p.His1452Arg)
c.4277A>G (p.His1426Arg)
c.4253A>G (p.His1418Arg)
14g.74503371T>GCA390384899LTBP2c.4736A>C (p.His1579Pro)
c.4604A>C (p.His1535Pro)
c.4355A>C (p.His1452Pro)
c.4277A>C (p.His1426Pro)
c.4253A>C (p.His1418Pro)
14g.74503372G>ACA390384901LTBP2c.4735C>T (p.His1579Tyr)
c.4603C>T (p.His1535Tyr)
c.4354C>T (p.His1452Tyr)
c.4276C>T (p.His1426Tyr)
c.4252C>T (p.His1418Tyr)
 gnomAD v4
14g.74503372G>CCA390384906LTBP2c.4735C>G (p.His1579Asp)
c.4603C>G (p.His1535Asp)
c.4354C>G (p.His1452Asp)
c.4276C>G (p.His1426Asp)
c.4252C>G (p.His1418Asp)
14g.74503372G>TCA390384903LTBP2c.4735C>A (p.His1579Asn)
c.4603C>A (p.His1535Asn)
c.4354C>A (p.His1452Asn)
c.4276C>A (p.His1426Asn)
c.4252C>A (p.His1418Asn)
 COSMIC
14g.74503373G>ACA487267163LTBP2c.4734C>T (p.Asp1578=)
c.4602C>T (p.Asp1534=)
c.4353C>T (p.Asp1451=)
c.4275C>T (p.Asp1425=)
c.4251C>T (p.Asp1417=)
 dbSNP
14g.74503373G>CCA390384908LTBP2c.4734C>G (p.Asp1578Glu)
c.4602C>G (p.Asp1534Glu)
c.4353C>G (p.Asp1451Glu)
c.4275C>G (p.Asp1425Glu)
c.4251C>G (p.Asp1417Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503373G=CA2147075290LTBP2c.4734C= (p.Asp1578=)
c.4602C= (p.Asp1534=)
c.4353C= (p.Asp1451=)
c.4275C= (p.Asp1425=)
c.4251C= (p.Asp1417=)
14g.74503373G>TCA390384910LTBP2c.4734C>A (p.Asp1578Glu)
c.4602C>A (p.Asp1534Glu)
c.4353C>A (p.Asp1451Glu)
c.4275C>A (p.Asp1425Glu)
c.4251C>A (p.Asp1417Glu)
14g.74503374T>ACA390384912LTBP2c.4733A>T (p.Asp1578Val)
c.4601A>T (p.Asp1534Val)
c.4352A>T (p.Asp1451Val)
c.4274A>T (p.Asp1425Val)
c.4250A>T (p.Asp1417Val)
14g.74503374T>CCA390384913LTBP2c.4733A>G (p.Asp1578Gly)
c.4601A>G (p.Asp1534Gly)
c.4352A>G (p.Asp1451Gly)
c.4274A>G (p.Asp1425Gly)
c.4250A>G (p.Asp1417Gly)
14g.74503374T>GCA390384915LTBP2c.4733A>C (p.Asp1578Ala)
c.4601A>C (p.Asp1534Ala)
c.4352A>C (p.Asp1451Ala)
c.4274A>C (p.Asp1425Ala)
c.4250A>C (p.Asp1417Ala)
14g.74503375C>ACA390384917LTBP2c.4732G>T (p.Asp1578Tyr)
c.4600G>T (p.Asp1534Tyr)
c.4351G>T (p.Asp1451Tyr)
c.4273G>T (p.Asp1425Tyr)
c.4249G>T (p.Asp1417Tyr)
14g.74503375C>GCA390384918LTBP2c.4732G>C (p.Asp1578His)
c.4600G>C (p.Asp1534His)
c.4351G>C (p.Asp1451His)
c.4273G>C (p.Asp1425His)
c.4249G>C (p.Asp1417His)
14g.74503375C>TCA390384920LTBP2c.4732G>A (p.Asp1578Asn)
c.4600G>A (p.Asp1534Asn)
c.4351G>A (p.Asp1451Asn)
c.4273G>A (p.Asp1425Asn)
c.4249G>A (p.Asp1417Asn)
14g.74503376A=CA2147075291LTBP2c.4731T= (p.Pro1577=)
c.4599T= (p.Pro1533=)
c.4350T= (p.Pro1450=)
c.4272T= (p.Pro1424=)
c.4248T= (p.Pro1416=)
14g.74503376A>CCA487267164LTBP2c.4731T>G (p.Pro1577=)
c.4599T>G (p.Pro1533=)
c.4350T>G (p.Pro1450=)
c.4272T>G (p.Pro1424=)
c.4248T>G (p.Pro1416=)
14g.74503376A>GCA487267165LTBP2c.4731T>C (p.Pro1577=)
c.4599T>C (p.Pro1533=)
c.4350T>C (p.Pro1450=)
c.4272T>C (p.Pro1424=)
c.4248T>C (p.Pro1416=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.74503376A>TCA487267166LTBP2c.4731T>A (p.Pro1577=)
c.4599T>A (p.Pro1533=)
c.4350T>A (p.Pro1450=)
c.4272T>A (p.Pro1424=)
c.4248T>A (p.Pro1416=)
14g.74503377G>ACA390384923LTBP2c.4730C>T (p.Pro1577Leu)
c.4598C>T (p.Pro1533Leu)
c.4349C>T (p.Pro1450Leu)
c.4271C>T (p.Pro1424Leu)
c.4247C>T (p.Pro1416Leu)
 dbSNP gnomAD v2
14g.74503377G>CCA390384924LTBP2c.4730C>G (p.Pro1577Arg)
c.4598C>G (p.Pro1533Arg)
c.4349C>G (p.Pro1450Arg)
c.4271C>G (p.Pro1424Arg)
c.4247C>G (p.Pro1416Arg)
14g.74503377G=CA2147075293LTBP2c.4730C= (p.Pro1577=)
c.4598C= (p.Pro1533=)
c.4349C= (p.Pro1450=)
c.4271C= (p.Pro1424=)
c.4247C= (p.Pro1416=)
14g.74503377G>TCA390384925LTBP2c.4730C>A (p.Pro1577His)
c.4598C>A (p.Pro1533His)
c.4349C>A (p.Pro1450His)
c.4271C>A (p.Pro1424His)
c.4247C>A (p.Pro1416His)
14g.74503378G>ACA390384931LTBP2c.4729C>T (p.Pro1577Ser)
c.4597C>T (p.Pro1533Ser)
c.4348C>T (p.Pro1450Ser)
c.4270C>T (p.Pro1424Ser)
c.4246C>T (p.Pro1416Ser)
 dbSNP gnomAD v3 gnomAD v4
14g.74503378G>CCA390384930LTBP2c.4729C>G (p.Pro1577Ala)
c.4597C>G (p.Pro1533Ala)
c.4348C>G (p.Pro1450Ala)
c.4270C>G (p.Pro1424Ala)
c.4246C>G (p.Pro1416Ala)
14g.74503378G=CA2147075294LTBP2c.4729C= (p.Pro1577=)
c.4597C= (p.Pro1533=)
c.4348C= (p.Pro1450=)
c.4270C= (p.Pro1424=)
c.4246C= (p.Pro1416=)
14g.74503378G>TCA390384927LTBP2c.4729C>A (p.Pro1577Thr)
c.4597C>A (p.Pro1533Thr)
c.4348C>A (p.Pro1450Thr)
c.4270C>A (p.Pro1424Thr)
c.4246C>A (p.Pro1416Thr)
14g.74503379G>ACA487267167LTBP2c.4728C>T (p.Leu1576=)
c.4596C>T (p.Leu1532=)
c.4347C>T (p.Leu1449=)
c.4269C>T (p.Leu1423=)
c.4245C>T (p.Leu1415=)
14g.74503379G>CCA487267168LTBP2c.4728C>G (p.Leu1576=)
c.4596C>G (p.Leu1532=)
c.4347C>G (p.Leu1449=)
c.4269C>G (p.Leu1423=)
c.4245C>G (p.Leu1415=)
14g.74503379G>TCA487267169LTBP2c.4728C>A (p.Leu1576=)
c.4596C>A (p.Leu1532=)
c.4347C>A (p.Leu1449=)
c.4269C>A (p.Leu1423=)
c.4245C>A (p.Leu1415=)
14g.74503380A>CCA390384933LTBP2c.4727T>G (p.Leu1576Arg)
c.4595T>G (p.Leu1532Arg)
c.4346T>G (p.Leu1449Arg)
c.4268T>G (p.Leu1423Arg)
c.4244T>G (p.Leu1415Arg)
14g.74503380A>GCA390384932LTBP2c.4727T>C (p.Leu1576Pro)
c.4595T>C (p.Leu1532Pro)
c.4346T>C (p.Leu1449Pro)
c.4268T>C (p.Leu1423Pro)
c.4244T>C (p.Leu1415Pro)
 gnomAD v4
14g.74503380A>TCA390384934LTBP2c.4727T>A (p.Leu1576His)
c.4595T>A (p.Leu1532His)
c.4346T>A (p.Leu1449His)
c.4268T>A (p.Leu1423His)
c.4244T>A (p.Leu1415His)
 gnomAD v4
14g.74503381G>ACA390384935LTBP2c.4726C>T (p.Leu1576Phe)
c.4594C>T (p.Leu1532Phe)
c.4345C>T (p.Leu1449Phe)
c.4267C>T (p.Leu1423Phe)
c.4243C>T (p.Leu1415Phe)
14g.74503381G>CCA390384936LTBP2c.4726C>G (p.Leu1576Val)
c.4594C>G (p.Leu1532Val)
c.4345C>G (p.Leu1449Val)
c.4267C>G (p.Leu1423Val)
c.4243C>G (p.Leu1415Val)
14g.74503381G>TCA390384937LTBP2c.4726C>A (p.Leu1576Ile)
c.4594C>A (p.Leu1532Ile)
c.4345C>A (p.Leu1449Ile)
c.4267C>A (p.Leu1423Ile)
c.4243C>A (p.Leu1415Ile)
 gnomAD v4
14g.74503382G>ACA487267170LTBP2c.4725C>T (p.Asp1575=)
c.4593C>T (p.Asp1531=)
c.4344C>T (p.Asp1448=)
c.4266C>T (p.Asp1422=)
c.4242C>T (p.Asp1414=)
 gnomAD v4
14g.74503382G>CCA390384938LTBP2c.4725C>G (p.Asp1575Glu)
c.4593C>G (p.Asp1531Glu)
c.4344C>G (p.Asp1448Glu)
c.4266C>G (p.Asp1422Glu)
c.4242C>G (p.Asp1414Glu)
 dbSNP
14g.74503382G=CA2147075295LTBP2c.4725C= (p.Asp1575=)
c.4593C= (p.Asp1531=)
c.4344C= (p.Asp1448=)
c.4266C= (p.Asp1422=)
c.4242C= (p.Asp1414=)
14g.74503382G>TCA390384939LTBP2c.4725C>A (p.Asp1575Glu)
c.4593C>A (p.Asp1531Glu)
c.4344C>A (p.Asp1448Glu)
c.4266C>A (p.Asp1422Glu)
c.4242C>A (p.Asp1414Glu)
14g.74503383T>ACA390384940LTBP2c.4724A>T (p.Asp1575Val)
c.4592A>T (p.Asp1531Val)
c.4343A>T (p.Asp1448Val)
c.4265A>T (p.Asp1422Val)
c.4241A>T (p.Asp1414Val)
14g.74503383T>CCA390384941LTBP2c.4724A>G (p.Asp1575Gly)
c.4592A>G (p.Asp1531Gly)
c.4343A>G (p.Asp1448Gly)
c.4265A>G (p.Asp1422Gly)
c.4241A>G (p.Asp1414Gly)
14g.74503383T>GCA390384942LTBP2c.4724A>C (p.Asp1575Ala)
c.4592A>C (p.Asp1531Ala)
c.4343A>C (p.Asp1448Ala)
c.4265A>C (p.Asp1422Ala)
c.4241A>C (p.Asp1414Ala)
14g.74503384C>ACA390384943LTBP2c.4723G>T (p.Asp1575Tyr)
c.4591G>T (p.Asp1531Tyr)
c.4342G>T (p.Asp1448Tyr)
c.4264G>T (p.Asp1422Tyr)
c.4240G>T (p.Asp1414Tyr)
 gnomAD v4
14g.74503384C>GCA390384944LTBP2c.4723G>C (p.Asp1575His)
c.4591G>C (p.Asp1531His)
c.4342G>C (p.Asp1448His)
c.4264G>C (p.Asp1422His)
c.4240G>C (p.Asp1414His)
14g.74503384C>TCA390384945LTBP2c.4723G>A (p.Asp1575Asn)
c.4591G>A (p.Asp1531Asn)
c.4342G>A (p.Asp1448Asn)
c.4264G>A (p.Asp1422Asn)
c.4240G>A (p.Asp1414Asn)
 gnomAD v4
14g.74503385C>ACA390384946LTBP2c.4722G>T (p.Glu1574Asp)
c.4590G>T (p.Glu1530Asp)
c.4341G>T (p.Glu1447Asp)
c.4263G>T (p.Glu1421Asp)
c.4239G>T (p.Glu1413Asp)
14g.74503385C=CA2147075296LTBP2c.4722G= (p.Glu1574=)
c.4590G= (p.Glu1530=)
c.4341G= (p.Glu1447=)
c.4263G= (p.Glu1421=)
c.4239G= (p.Glu1413=)
14g.74503385C>GCA7268647LTBP2c.4722G>C (p.Glu1574Asp)
c.4590G>C (p.Glu1530Asp)
c.4341G>C (p.Glu1447Asp)
c.4263G>C (p.Glu1421Asp)
c.4239G>C (p.Glu1413Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503385C>TCA487267171LTBP2c.4722G>A (p.Glu1574=)
c.4590G>A (p.Glu1530=)
c.4341G>A (p.Glu1447=)
c.4263G>A (p.Glu1421=)
c.4239G>A (p.Glu1413=)
 dbSNP gnomAD v2 gnomAD v4
14g.74503386T>ACA390384949LTBP2c.4721A>T (p.Glu1574Val)
c.4589A>T (p.Glu1530Val)
c.4340A>T (p.Glu1447Val)
c.4262A>T (p.Glu1421Val)
c.4238A>T (p.Glu1413Val)
14g.74503386T>CCA390384947LTBP2c.4721A>G (p.Glu1574Gly)
c.4589A>G (p.Glu1530Gly)
c.4340A>G (p.Glu1447Gly)
c.4262A>G (p.Glu1421Gly)
c.4238A>G (p.Glu1413Gly)
14g.74503386T>GCA390384948LTBP2c.4721A>C (p.Glu1574Ala)
c.4589A>C (p.Glu1530Ala)
c.4340A>C (p.Glu1447Ala)
c.4262A>C (p.Glu1421Ala)
c.4238A>C (p.Glu1413Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503386T=CA2147075297LTBP2c.4721A= (p.Glu1574=)
c.4589A= (p.Glu1530=)
c.4340A= (p.Glu1447=)
c.4262A= (p.Glu1421=)
c.4238A= (p.Glu1413=)
14g.74503387C>ACA390384950LTBP2c.4721-1G>T (n.4721-1G>T)
c.4589-1G>T (n.4589-1G>T)
c.4340-1G>T (n.4340-1G>T)
c.4262-1G>T (n.4262-1G>T)
c.4238-1G>T (n.4238-1G>T)
14g.74503387C>GCA390384951LTBP2c.4721-1G>C (n.4721-1G>C)
c.4589-1G>C (n.4589-1G>C)
c.4340-1G>C (n.4340-1G>C)
c.4262-1G>C (n.4262-1G>C)
c.4238-1G>C (n.4238-1G>C)
 gnomAD v4
14g.74503387C>TCA390384952LTBP2c.4721-1G>A (n.4721-1G>A)
c.4589-1G>A (n.4589-1G>A)
c.4340-1G>A (n.4340-1G>A)
c.4262-1G>A (n.4262-1G>A)
c.4238-1G>A (n.4238-1G>A)
14g.74503388_74503469delCA2802156392LTBP2c.4720+1_4721-1del
c.4588+1_4589-1del
c.4339+1_4340-1del
c.4261+1_4262-1del
c.4237+1_4238-1del
14g.74503388T>ACA390384953LTBP2c.4721-2A>T (n.4721-2A>T)
c.4589-2A>T (n.4589-2A>T)
c.4340-2A>T (n.4340-2A>T)
c.4262-2A>T (n.4262-2A>T)
c.4238-2A>T (n.4238-2A>T)
14g.74503388T>CCA390384954LTBP2c.4721-2A>G (n.4721-2A>G)
c.4589-2A>G (n.4589-2A>G)
c.4340-2A>G (n.4340-2A>G)
c.4262-2A>G (n.4262-2A>G)
c.4238-2A>G (n.4238-2A>G)
14g.74503388T>GCA390384955LTBP2c.4721-2A>C (n.4721-2A>C)
c.4589-2A>C (n.4589-2A>C)
c.4340-2A>C (n.4340-2A>C)
c.4262-2A>C (n.4262-2A>C)
c.4238-2A>C (n.4238-2A>C)
14g.74503390_74503414delCA2625668654LTBP2c.4721-26_4721-2del (n.4721-26_4721-2del)
c.4589-26_4589-2del (n.4589-26_4589-2del)
c.4340-26_4340-2del (n.4340-26_4340-2del)
c.4262-26_4262-2del (n.4262-26_4262-2del)
c.4238-26_4238-2del (n.4238-26_4238-2del)
 gnomAD v4
14g.74503390G>ACA2147075299LTBP2c.4721-4C>T (n.4721-4C>T)
c.4589-4C>T (n.4589-4C>T)
c.4340-4C>T (n.4340-4C>T)
c.4262-4C>T (n.4262-4C>T)
c.4238-4C>T (n.4238-4C>T)
 dbSNP
14g.74503390G=CA2147075298LTBP2c.4721-4C= (n.4721-4C=)
c.4589-4C= (n.4589-4C=)
c.4340-4C= (n.4340-4C=)
c.4262-4C= (n.4262-4C=)
c.4238-4C= (n.4238-4C=)
14g.74503390_74503391delinsGTCA2147075300LTBP2c.4721-5_4721-4delinsAC (n.4721-5_4721-4delinsAC)
c.4589-5_4589-4delinsAC (n.4589-5_4589-4delinsAC)
c.4340-5_4340-4delinsAC (n.4340-5_4340-4delinsAC)
c.4262-5_4262-4delinsAC (n.4262-5_4262-4delinsAC)
c.4238-5_4238-4delinsAC (n.4238-5_4238-4delinsAC)
14g.74503391delCA2147075301LTBP2c.4721-5del (n.4721-5del)
c.4589-5del (n.4589-5del)
c.4340-5del (n.4340-5del)
c.4262-5del (n.4262-5del)
c.4238-5del (n.4238-5del)
 dbSNP gnomAD v4
14g.74503392G>ACA7268648LTBP2c.4721-6C>T (n.4721-6C>T)
c.4589-6C>T (n.4589-6C>T)
c.4340-6C>T (n.4340-6C>T)
c.4262-6C>T (n.4262-6C>T)
c.4238-6C>T (n.4238-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503392G=CA2147075302LTBP2c.4721-6C= (n.4721-6C=)
c.4589-6C= (n.4589-6C=)
c.4340-6C= (n.4340-6C=)
c.4262-6C= (n.4262-6C=)
c.4238-6C= (n.4238-6C=)
14g.74503393G>ACA2625668658LTBP2c.4721-7C>T (n.4721-7C>T)
c.4589-7C>T (n.4589-7C>T)
c.4340-7C>T (n.4340-7C>T)
c.4262-7C>T (n.4262-7C>T)
c.4238-7C>T (n.4238-7C>T)
 gnomAD v4
14g.74503394C>TCA2625668660LTBP2c.4721-8G>A (n.4721-8G>A)
c.4589-8G>A (n.4589-8G>A)
c.4340-8G>A (n.4340-8G>A)
c.4262-8G>A (n.4262-8G>A)
c.4238-8G>A (n.4238-8G>A)
 dbSNP gnomAD v4
14g.74503396C=CA2147075303LTBP2c.4721-10G= (n.4721-10G=)
c.4589-10G= (n.4589-10G=)
c.4340-10G= (n.4340-10G=)
c.4262-10G= (n.4262-10G=)
c.4238-10G= (n.4238-10G=)
14g.74503396C>TCA263578922LTBP2c.4721-10G>A (n.4721-10G>A)
c.4589-10G>A (n.4589-10G>A)
c.4340-10G>A (n.4340-10G>A)
c.4262-10G>A (n.4262-10G>A)
c.4238-10G>A (n.4238-10G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503398G>ACA2625668666LTBP2c.4721-12C>T (n.4721-12C>T)
c.4589-12C>T (n.4589-12C>T)
c.4340-12C>T (n.4340-12C>T)
c.4262-12C>T (n.4262-12C>T)
c.4238-12C>T (n.4238-12C>T)
 gnomAD v4
14g.74503398G>CCA2739278664LTBP2c.4721-12C>G (n.4721-12C>G)
c.4589-12C>G (n.4589-12C>G)
c.4340-12C>G (n.4340-12C>G)
c.4262-12C>G (n.4262-12C>G)
c.4238-12C>G (n.4238-12C>G)
 ClinVar
14g.74503398G>TCA2575576895LTBP2c.4721-12C>A (n.4721-12C>A)
c.4589-12C>A (n.4589-12C>A)
c.4340-12C>A (n.4340-12C>A)
c.4262-12C>A (n.4262-12C>A)
c.4238-12C>A (n.4238-12C>A)
 gnomAD v4
14g.74503399G>ACA7268649LTBP2c.4721-13C>T (n.4721-13C>T)
c.4589-13C>T (n.4589-13C>T)
c.4340-13C>T (n.4340-13C>T)
c.4262-13C>T (n.4262-13C>T)
c.4238-13C>T (n.4238-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503399G=CA2147075304LTBP2c.4721-13C= (n.4721-13C=)
c.4589-13C= (n.4589-13C=)
c.4340-13C= (n.4340-13C=)
c.4262-13C= (n.4262-13C=)
c.4238-13C= (n.4238-13C=)
14g.74503400G>ACA615193021LTBP2c.4721-14C>T (n.4721-14C>T)
c.4589-14C>T (n.4589-14C>T)
c.4340-14C>T (n.4340-14C>T)
c.4262-14C>T (n.4262-14C>T)
c.4238-14C>T (n.4238-14C>T)
 dbSNP gnomAD v2 gnomAD v4
14g.74503400G>CCA2625668670LTBP2c.4721-14C>G (n.4721-14C>G)
c.4589-14C>G (n.4589-14C>G)
c.4340-14C>G (n.4340-14C>G)
c.4262-14C>G (n.4262-14C>G)
c.4238-14C>G (n.4238-14C>G)
 gnomAD v4
14g.74503400G=CA2147075305LTBP2c.4721-14C= (n.4721-14C=)
c.4589-14C= (n.4589-14C=)
c.4340-14C= (n.4340-14C=)
c.4262-14C= (n.4262-14C=)
c.4238-14C= (n.4238-14C=)
14g.74503401C>ACA7268650LTBP2c.4721-15G>T (n.4721-15G>T)
c.4589-15G>T (n.4589-15G>T)
c.4340-15G>T (n.4340-15G>T)
c.4262-15G>T (n.4262-15G>T)
c.4238-15G>T (n.4238-15G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503401C=CA2147075306LTBP2c.4721-15G= (n.4721-15G=)
c.4589-15G= (n.4589-15G=)
c.4340-15G= (n.4340-15G=)
c.4262-15G= (n.4262-15G=)
c.4238-15G= (n.4238-15G=)
14g.74503401C>TCA7268651LTBP2c.4721-15G>A (n.4721-15G>A)
c.4589-15G>A (n.4589-15G>A)
c.4340-15G>A (n.4340-15G>A)
c.4262-15G>A (n.4262-15G>A)
c.4238-15G>A (n.4238-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503402A>GCA2625668676LTBP2c.4721-16T>C (n.4721-16T>C)
c.4589-16T>C (n.4589-16T>C)
c.4340-16T>C (n.4340-16T>C)
c.4262-16T>C (n.4262-16T>C)
c.4238-16T>C (n.4238-16T>C)
 gnomAD v4
14g.74503403C=CA2147075307LTBP2c.4721-17G= (n.4721-17G=)
c.4589-17G= (n.4589-17G=)
c.4340-17G= (n.4340-17G=)
c.4262-17G= (n.4262-17G=)
c.4238-17G= (n.4238-17G=)
14g.74503403C>TCA7268652LTBP2c.4721-17G>A (n.4721-17G>A)
c.4589-17G>A (n.4589-17G>A)
c.4340-17G>A (n.4340-17G>A)
c.4262-17G>A (n.4262-17G>A)
c.4238-17G>A (n.4238-17G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503404G>ACA7268653LTBP2c.4721-18C>T (n.4721-18C>T)
c.4589-18C>T (n.4589-18C>T)
c.4340-18C>T (n.4340-18C>T)
c.4262-18C>T (n.4262-18C>T)
c.4238-18C>T (n.4238-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503404G=CA2147075308LTBP2c.4721-18C= (n.4721-18C=)
c.4589-18C= (n.4589-18C=)
c.4340-18C= (n.4340-18C=)
c.4262-18C= (n.4262-18C=)
c.4238-18C= (n.4238-18C=)
14g.74503408dupCA2625668684LTBP2c.4721-21dup (n.4721-21dup)
c.4589-21dup (n.4589-21dup)
c.4340-21dup (n.4340-21dup)
c.4262-21dup (n.4262-21dup)
c.4238-21dup (n.4238-21dup)
 gnomAD v4
14g.74503408G>ACA7268654LTBP2c.4721-22C>T (n.4721-22C>T)
c.4589-22C>T (n.4589-22C>T)
c.4340-22C>T (n.4340-22C>T)
c.4262-22C>T (n.4262-22C>T)
c.4238-22C>T (n.4238-22C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503408G=CA2147075310LTBP2c.4721-22C= (n.4721-22C=)
c.4589-22C= (n.4589-22C=)
c.4340-22C= (n.4340-22C=)
c.4262-22C= (n.4262-22C=)
c.4238-22C= (n.4238-22C=)
14g.74503409C>ACA2625668688LTBP2c.4721-23G>T (n.4721-23G>T)
c.4589-23G>T (n.4589-23G>T)
c.4340-23G>T (n.4340-23G>T)
c.4262-23G>T (n.4262-23G>T)
c.4238-23G>T (n.4238-23G>T)
 gnomAD v4
14g.74503409C=CA2147075318LTBP2c.4721-23G= (n.4721-23G=)
c.4589-23G= (n.4589-23G=)
c.4340-23G= (n.4340-23G=)
c.4262-23G= (n.4262-23G=)
c.4238-23G= (n.4238-23G=)
14g.74503409C>TCA2147075317LTBP2c.4721-23G>A (n.4721-23G>A)
c.4589-23G>A (n.4589-23G>A)
c.4340-23G>A (n.4340-23G>A)
c.4262-23G>A (n.4262-23G>A)
c.4238-23G>A (n.4238-23G>A)
 dbSNP
14g.74503411_74503412delCA2625668687LTBP2c.4721-24_4721-23del (n.4721-24_4721-23del)
c.4589-24_4589-23del (n.4589-24_4589-23del)
c.4340-24_4340-23del (n.4340-24_4340-23del)
c.4262-24_4262-23del (n.4262-24_4262-23del)
c.4238-24_4238-23del (n.4238-24_4238-23del)
 gnomAD v4
14g.74503410A>GCA2625668689LTBP2c.4721-24T>C (n.4721-24T>C)
c.4589-24T>C (n.4589-24T>C)
c.4340-24T>C (n.4340-24T>C)
c.4262-24T>C (n.4262-24T>C)
c.4238-24T>C (n.4238-24T>C)
 gnomAD v4
14g.74503410A>TCA2625668690LTBP2c.4721-24T>A (n.4721-24T>A)
c.4589-24T>A (n.4589-24T>A)
c.4340-24T>A (n.4340-24T>A)
c.4262-24T>A (n.4262-24T>A)
c.4238-24T>A (n.4238-24T>A)
 gnomAD v4
14g.74503412A=CA2147075320LTBP2c.4721-26T= (n.4721-26T=)
c.4589-26T= (n.4589-26T=)
c.4340-26T= (n.4340-26T=)
c.4262-26T= (n.4262-26T=)
c.4238-26T= (n.4238-26T=)
14g.74503412A>GCA615193022LTBP2c.4721-26T>C (n.4721-26T>C)
c.4589-26T>C (n.4589-26T>C)
c.4340-26T>C (n.4340-26T>C)
c.4262-26T>C (n.4262-26T>C)
c.4238-26T>C (n.4238-26T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503412A>TCA2625668691LTBP2c.4721-26T>A (n.4721-26T>A)
c.4589-26T>A (n.4589-26T>A)
c.4340-26T>A (n.4340-26T>A)
c.4262-26T>A (n.4262-26T>A)
c.4238-26T>A (n.4238-26T>A)
 gnomAD v4
14g.74503413T>ACA615193023LTBP2c.4721-27A>T (n.4721-27A>T)
c.4589-27A>T (n.4589-27A>T)
c.4340-27A>T (n.4340-27A>T)
c.4262-27A>T (n.4262-27A>T)
c.4238-27A>T (n.4238-27A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74503413T=CA2147075321LTBP2c.4721-27A= (n.4721-27A=)
c.4589-27A= (n.4589-27A=)
c.4340-27A= (n.4340-27A=)
c.4262-27A= (n.4262-27A=)
c.4238-27A= (n.4238-27A=)
14g.74503414G>ACA2147075323LTBP2c.4721-28C>T (n.4721-28C>T)
c.4589-28C>T (n.4589-28C>T)
c.4340-28C>T (n.4340-28C>T)
c.4262-28C>T (n.4262-28C>T)
c.4238-28C>T (n.4238-28C>T)
 dbSNP
14g.74503414G=CA2147075322LTBP2c.4721-28C= (n.4721-28C=)
c.4589-28C= (n.4589-28C=)
c.4340-28C= (n.4340-28C=)
c.4262-28C= (n.4262-28C=)
c.4238-28C= (n.4238-28C=)
14g.74503414G>TCA2625668692LTBP2c.4721-28C>A (n.4721-28C>A)
c.4589-28C>A (n.4589-28C>A)
c.4340-28C>A (n.4340-28C>A)
c.4262-28C>A (n.4262-28C>A)
c.4238-28C>A (n.4238-28C>A)
 gnomAD v4
14g.74503416G>ACA7268656LTBP2c.4721-30C>T (n.4721-30C>T)
c.4589-30C>T (n.4589-30C>T)
c.4340-30C>T (n.4340-30C>T)
c.4262-30C>T (n.4262-30C>T)
c.4238-30C>T (n.4238-30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.74503416G>CCA2625668695LTBP2c.4721-30C>G (n.4721-30C>G)
c.4589-30C>G (n.4589-30C>G)
c.4340-30C>G (n.4340-30C>G)
c.4262-30C>G (n.4262-30C>G)
c.4238-30C>G (n.4238-30C>G)
 gnomAD v4
14g.74503416G=CA2147075325LTBP2c.4721-30C= (n.4721-30C=)
c.4589-30C= (n.4589-30C=)
c.4340-30C= (n.4340-30C=)
c.4262-30C= (n.4262-30C=)
c.4238-30C= (n.4238-30C=)
14g.74503416G>TCA2625668696LTBP2c.4721-30C>A (n.4721-30C>A)
c.4589-30C>A (n.4589-30C>A)
c.4340-30C>A (n.4340-30C>A)
c.4262-30C>A (n.4262-30C>A)
c.4238-30C>A (n.4238-30C>A)
 gnomAD v4
14g.74503417C>ACA2802156393LTBP2c.4721-31G>T (n.4721-31G>T)
c.4589-31G>T (n.4589-31G>T)
c.4340-31G>T (n.4340-31G>T)
c.4262-31G>T (n.4262-31G>T)
c.4238-31G>T (n.4238-31G>T)
14g.74503417C=CA2147075327LTBP2c.4721-31G= (n.4721-31G=)
c.4589-31G= (n.4589-31G=)
c.4340-31G= (n.4340-31G=)
c.4262-31G= (n.4262-31G=)
c.4238-31G= (n.4238-31G=)
14g.74503417C>TCA7268657LTBP2c.4721-31G>A (n.4721-31G>A)
c.4589-31G>A (n.4589-31G>A)
c.4340-31G>A (n.4340-31G>A)
c.4262-31G>A (n.4262-31G>A)
c.4238-31G>A (n.4238-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503422dupCA7268655LTBP2c.4721-31dup (n.4721-31dup)
c.4589-31dup (n.4589-31dup)
c.4340-31dup (n.4340-31dup)
c.4262-31dup (n.4262-31dup)
c.4238-31dup (n.4238-31dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74503422delCA2625668698LTBP2c.4721-31del (n.4721-31del)
c.4589-31del (n.4589-31del)
c.4340-31del (n.4340-31del)
c.4262-31del (n.4262-31del)
c.4238-31del (n.4238-31del)
 gnomAD v4

Number of alleles fetched