Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.40605681G>ACA2585156289LTBP4c.690+29G>A (n.690+29G>A)
c.780+29G>A (n.780+29G>A)
c.891+29G>A (n.891+29G>A)
n.428+5578G>A
c.924+29G>A (n.924+29G>A)
c.282+29G>A (n.282+29G>A)
 gnomAD v4
19g.40605681G>CCA2576787755LTBP4c.690+29G>C (n.690+29G>C)
c.780+29G>C (n.780+29G>C)
c.891+29G>C (n.891+29G>C)
n.428+5578G>C
c.924+29G>C (n.924+29G>C)
c.282+29G>C (n.282+29G>C)
19g.40605684G>ACA2736065292LTBP4c.690+32G>A (n.690+32G>A)
c.780+32G>A (n.780+32G>A)
c.891+32G>A (n.891+32G>A)
n.428+5581G>A
c.924+32G>A (n.924+32G>A)
c.282+32G>A (n.282+32G>A)
 dbSNP
19g.40605684G>TCA2585156290LTBP4c.690+32G>T (n.690+32G>T)
c.780+32G>T (n.780+32G>T)
c.891+32G>T (n.891+32G>T)
n.428+5581G>T
c.924+32G>T (n.924+32G>T)
c.282+32G>T (n.282+32G>T)
 gnomAD v4
19g.40605685C>ACA2585156291LTBP4c.690+33C>A (n.690+33C>A)
c.780+33C>A (n.780+33C>A)
c.891+33C>A (n.891+33C>A)
n.428+5582C>A
c.924+33C>A (n.924+33C>A)
c.282+33C>A (n.282+33C>A)
 gnomAD v4
19g.40605685C>TCA2585156292LTBP4c.690+33C>T (n.690+33C>T)
c.780+33C>T (n.780+33C>T)
c.891+33C>T (n.891+33C>T)
n.428+5582C>T
c.924+33C>T (n.924+33C>T)
c.282+33C>T (n.282+33C>T)
 gnomAD v4
19g.40605686T>ACA2576787756LTBP4c.690+34T>A (n.690+34T>A)
c.780+34T>A (n.780+34T>A)
c.891+34T>A (n.891+34T>A)
n.428+5583T>A
c.924+34T>A (n.924+34T>A)
c.282+34T>A (n.282+34T>A)
19g.40605686T>GCA2576787757LTBP4c.690+34T>G (n.690+34T>G)
c.780+34T>G (n.780+34T>G)
c.891+34T>G (n.891+34T>G)
n.428+5583T>G
c.924+34T>G (n.924+34T>G)
c.282+34T>G (n.282+34T>G)
19g.40605687T>ACA2576787758LTBP4c.690+35T>A (n.690+35T>A)
c.780+35T>A (n.780+35T>A)
c.891+35T>A (n.891+35T>A)
n.428+5584T>A
c.924+35T>A (n.924+35T>A)
c.282+35T>A (n.282+35T>A)
19g.40605687T>CCA882257932LTBP4c.690+35T>C (n.690+35T>C)
c.780+35T>C (n.780+35T>C)
c.891+35T>C (n.891+35T>C)
n.428+5584T>C
c.924+35T>C (n.924+35T>C)
c.282+35T>C (n.282+35T>C)
 dbSNP gnomAD v3 gnomAD v4
19g.40605687T>GCA2585156293LTBP4c.690+35T>G (n.690+35T>G)
c.780+35T>G (n.780+35T>G)
c.891+35T>G (n.891+35T>G)
n.428+5584T>G
c.924+35T>G (n.924+35T>G)
c.282+35T>G (n.282+35T>G)
 gnomAD v4
19g.40605687T=CA2336060128LTBP4c.690+35T= (n.690+35T=)
c.780+35T= (n.780+35T=)
c.891+35T= (n.891+35T=)
n.428+5584T=
c.924+35T= (n.924+35T=)
c.282+35T= (n.282+35T=)
19g.40605688G>ACA2585156294LTBP4c.690+36G>A (n.690+36G>A)
c.780+36G>A (n.780+36G>A)
c.891+36G>A (n.891+36G>A)
n.428+5585G>A
c.924+36G>A (n.924+36G>A)
c.282+36G>A (n.282+36G>A)
 gnomAD v4
19g.40605688G=CA2336060129LTBP4c.690+36G= (n.690+36G=)
c.780+36G= (n.780+36G=)
c.891+36G= (n.891+36G=)
n.428+5585G=
c.924+36G= (n.924+36G=)
c.282+36G= (n.282+36G=)
19g.40605688G>TCA633466925LTBP4c.690+36G>T (n.690+36G>T)
c.780+36G>T (n.780+36G>T)
c.891+36G>T (n.891+36G>T)
n.428+5585G>T
c.924+36G>T (n.924+36G>T)
c.282+36G>T (n.282+36G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.40605689C>ACA2585156295LTBP4c.690+37C>A (n.690+37C>A)
c.780+37C>A (n.780+37C>A)
c.891+37C>A (n.891+37C>A)
n.428+5586C>A
c.924+37C>A (n.924+37C>A)
c.282+37C>A (n.282+37C>A)
 gnomAD v4
19g.40605689C>TCA2585156296LTBP4c.690+37C>T (n.690+37C>T)
c.780+37C>T (n.780+37C>T)
c.891+37C>T (n.891+37C>T)
n.428+5586C>T
c.924+37C>T (n.924+37C>T)
c.282+37C>T (n.282+37C>T)
 gnomAD v4
19g.40605690C>ACA2585156297LTBP4c.691-39C>A (n.691-39C>A)
c.781-39C>A (n.781-39C>A)
c.892-39C>A (n.892-39C>A)
n.428+5587C>A
c.925-39C>A (n.925-39C>A)
c.283-39C>A (n.283-39C>A)
 gnomAD v4
19g.40605691T>ACA2576787759LTBP4c.691-38T>A (n.691-38T>A)
c.781-38T>A (n.781-38T>A)
c.892-38T>A (n.892-38T>A)
n.428+5588T>A
c.925-38T>A (n.925-38T>A)
c.283-38T>A (n.283-38T>A)
19g.40605691T>CCA9448090LTBP4c.691-38T>C (n.691-38T>C)
c.781-38T>C (n.781-38T>C)
c.892-38T>C (n.892-38T>C)
n.428+5588T>C
c.925-38T>C (n.925-38T>C)
c.283-38T>C (n.283-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605691T>GCA882257934LTBP4c.691-38T>G (n.691-38T>G)
c.781-38T>G (n.781-38T>G)
c.892-38T>G (n.892-38T>G)
n.428+5588T>G
c.925-38T>G (n.925-38T>G)
c.283-38T>G (n.283-38T>G)
 dbSNP
19g.40605691T=CA2336060130LTBP4c.691-38T= (n.691-38T=)
c.781-38T= (n.781-38T=)
c.892-38T= (n.892-38T=)
n.428+5588T=
c.925-38T= (n.925-38T=)
c.283-38T= (n.283-38T=)
19g.40605692C>ACA2585156298LTBP4c.691-37C>A (n.691-37C>A)
c.781-37C>A (n.781-37C>A)
c.892-37C>A (n.892-37C>A)
n.428+5589C>A
c.925-37C>A (n.925-37C>A)
c.283-37C>A (n.283-37C>A)
 gnomAD v4
19g.40605693C>ACA2585156299LTBP4c.691-36C>A (n.691-36C>A)
c.781-36C>A (n.781-36C>A)
c.892-36C>A (n.892-36C>A)
n.428+5590C>A
c.925-36C>A (n.925-36C>A)
c.283-36C>A (n.283-36C>A)
 gnomAD v4
19g.40605693C=CA2336060131LTBP4c.691-36C= (n.691-36C=)
c.781-36C= (n.781-36C=)
c.892-36C= (n.892-36C=)
n.428+5590C=
c.925-36C= (n.925-36C=)
c.283-36C= (n.283-36C=)
19g.40605693C>TCA633466926LTBP4c.691-36C>T (n.691-36C>T)
c.781-36C>T (n.781-36C>T)
c.892-36C>T (n.892-36C>T)
n.428+5590C>T
c.925-36C>T (n.925-36C>T)
c.283-36C>T (n.283-36C>T)
 dbSNP gnomAD v2
19g.40605694G>ACA2585156300LTBP4c.691-35G>A (n.691-35G>A)
c.781-35G>A (n.781-35G>A)
c.892-35G>A (n.892-35G>A)
n.428+5591G>A
c.925-35G>A (n.925-35G>A)
c.283-35G>A (n.283-35G>A)
 gnomAD v4
19g.40605694G>TCA2585156301LTBP4c.691-35G>T (n.691-35G>T)
c.781-35G>T (n.781-35G>T)
c.892-35G>T (n.892-35G>T)
n.428+5591G>T
c.925-35G>T (n.925-35G>T)
c.283-35G>T (n.283-35G>T)
 gnomAD v4
19g.40605695C>ACA633466927LTBP4c.691-34C>A (n.691-34C>A)
c.781-34C>A (n.781-34C>A)
c.892-34C>A (n.892-34C>A)
n.428+5592C>A
c.925-34C>A (n.925-34C>A)
c.283-34C>A (n.283-34C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.40605695C=CA2336060132LTBP4c.691-34C= (n.691-34C=)
c.781-34C= (n.781-34C=)
c.892-34C= (n.892-34C=)
n.428+5592C=
c.925-34C= (n.925-34C=)
c.283-34C= (n.283-34C=)
19g.40605695C>TCA633466928LTBP4c.691-34C>T (n.691-34C>T)
c.781-34C>T (n.781-34C>T)
c.892-34C>T (n.892-34C>T)
n.428+5592C>T
c.925-34C>T (n.925-34C>T)
c.283-34C>T (n.283-34C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.40605696G>ACA2576787760LTBP4c.691-33G>A (n.691-33G>A)
c.781-33G>A (n.781-33G>A)
c.892-33G>A (n.892-33G>A)
n.428+5593G>A
c.925-33G>A (n.925-33G>A)
c.283-33G>A (n.283-33G>A)
19g.40605696G>CCA2336060135LTBP4c.691-33G>C (n.691-33G>C)
c.781-33G>C (n.781-33G>C)
c.892-33G>C (n.892-33G>C)
n.428+5593G>C
c.925-33G>C (n.925-33G>C)
c.283-33G>C (n.283-33G>C)
 dbSNP gnomAD v4
19g.40605696G=CA2336060134LTBP4c.691-33G= (n.691-33G=)
c.781-33G= (n.781-33G=)
c.892-33G= (n.892-33G=)
n.428+5593G=
c.925-33G= (n.925-33G=)
c.283-33G= (n.283-33G=)
19g.40605696G>TCA2585156302LTBP4c.691-33G>T (n.691-33G>T)
c.781-33G>T (n.781-33G>T)
c.892-33G>T (n.892-33G>T)
n.428+5593G>T
c.925-33G>T (n.925-33G>T)
c.283-33G>T (n.283-33G>T)
 gnomAD v4
19g.40605696_40605697delinsGCCA2336060133LTBP4c.691-33_691-32delinsGC (n.691-33_691-32delinsGC)
c.781-33_781-32delinsGC (n.781-33_781-32delinsGC)
c.892-33_892-32delinsGC (n.892-33_892-32delinsGC)
n.428+5593_428+5594delinsGC
c.925-33_925-32delinsGC (n.925-33_925-32delinsGC)
c.283-33_283-32delinsGC (n.283-33_283-32delinsGC)
19g.40605697delCA882257938LTBP4c.691-32del (n.691-32del)
c.781-32del (n.781-32del)
c.892-32del (n.892-32del)
n.428+5594del
c.925-32del (n.925-32del)
c.283-32del (n.283-32del)
 dbSNP gnomAD v3 gnomAD v4
19g.40605697C>ACA882257937LTBP4c.691-32C>A (n.691-32C>A)
c.781-32C>A (n.781-32C>A)
c.892-32C>A (n.892-32C>A)
n.428+5594C>A
c.925-32C>A (n.925-32C>A)
c.283-32C>A (n.283-32C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.40605697C=CA2336060136LTBP4c.691-32C= (n.691-32C=)
c.781-32C= (n.781-32C=)
c.892-32C= (n.892-32C=)
n.428+5594C=
c.925-32C= (n.925-32C=)
c.283-32C= (n.283-32C=)
19g.40605697C>TCA633466929LTBP4c.691-32C>T (n.691-32C>T)
c.781-32C>T (n.781-32C>T)
c.892-32C>T (n.892-32C>T)
n.428+5594C>T
c.925-32C>T (n.925-32C>T)
c.283-32C>T (n.283-32C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.40605698G>CCA2585156305LTBP4c.691-31G>C (n.691-31G>C)
c.781-31G>C (n.781-31G>C)
c.892-31G>C (n.892-31G>C)
n.428+5595G>C
c.925-31G>C (n.925-31G>C)
c.283-31G>C (n.283-31G>C)
 gnomAD v4
19g.40605698G>TCA2585156306LTBP4c.691-31G>T (n.691-31G>T)
c.781-31G>T (n.781-31G>T)
c.892-31G>T (n.892-31G>T)
n.428+5595G>T
c.925-31G>T (n.925-31G>T)
c.283-31G>T (n.283-31G>T)
 gnomAD v4
19g.40605702dupCA2585156303LTBP4c.691-27dup (n.691-27dup)
c.781-27dup (n.781-27dup)
c.892-27dup (n.892-27dup)
n.428+5599dup
c.925-27dup (n.925-27dup)
c.283-27dup (n.283-27dup)
 gnomAD v4
19g.40605702delCA2585156304LTBP4c.691-27del (n.691-27del)
c.781-27del (n.781-27del)
c.892-27del (n.892-27del)
n.428+5599del
c.925-27del (n.925-27del)
c.283-27del (n.283-27del)
 gnomAD v4
19g.40605699G>ACA2585156307LTBP4c.691-30G>A (n.691-30G>A)
c.781-30G>A (n.781-30G>A)
c.892-30G>A (n.892-30G>A)
n.428+5596G>A
c.925-30G>A (n.925-30G>A)
c.283-30G>A (n.283-30G>A)
 gnomAD v4
19g.40605700G>ACA633466930LTBP4c.691-29G>A (n.691-29G>A)
c.781-29G>A (n.781-29G>A)
c.892-29G>A (n.892-29G>A)
n.428+5597G>A
c.925-29G>A (n.925-29G>A)
c.283-29G>A (n.283-29G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605700G=CA2336060137LTBP4c.691-29G= (n.691-29G=)
c.781-29G= (n.781-29G=)
c.892-29G= (n.892-29G=)
n.428+5597G=
c.925-29G= (n.925-29G=)
c.283-29G= (n.283-29G=)
19g.40605700G>TCA2585156308LTBP4c.691-29G>T (n.691-29G>T)
c.781-29G>T (n.781-29G>T)
c.892-29G>T (n.892-29G>T)
n.428+5597G>T
c.925-29G>T (n.925-29G>T)
c.283-29G>T (n.283-29G>T)
 gnomAD v4
19g.40605701G>ACA2576787761LTBP4c.691-28G>A (n.691-28G>A)
c.781-28G>A (n.781-28G>A)
c.892-28G>A (n.892-28G>A)
n.428+5598G>A
c.925-28G>A (n.925-28G>A)
c.283-28G>A (n.283-28G>A)
 gnomAD v4
19g.40605702G>ACA308447862LTBP4c.691-27G>A (n.691-27G>A)
c.781-27G>A (n.781-27G>A)
c.892-27G>A (n.892-27G>A)
n.428+5599G>A
c.925-27G>A (n.925-27G>A)
c.283-27G>A (n.283-27G>A)
 dbSNP gnomAD v4
19g.40605702G>CCA2336060139LTBP4c.691-27G>C (n.691-27G>C)
c.781-27G>C (n.781-27G>C)
c.892-27G>C (n.892-27G>C)
n.428+5599G>C
c.925-27G>C (n.925-27G>C)
c.283-27G>C (n.283-27G>C)
 dbSNP gnomAD v4
19g.40605702G=CA2336060138LTBP4c.691-27G= (n.691-27G=)
c.781-27G= (n.781-27G=)
c.892-27G= (n.892-27G=)
n.428+5599G=
c.925-27G= (n.925-27G=)
c.283-27G= (n.283-27G=)
19g.40605702G>TCA2585156309LTBP4c.691-27G>T (n.691-27G>T)
c.781-27G>T (n.781-27G>T)
c.892-27G>T (n.892-27G>T)
n.428+5599G>T
c.925-27G>T (n.925-27G>T)
c.283-27G>T (n.283-27G>T)
 gnomAD v4
19g.40605703C>ACA2336060141LTBP4c.691-26C>A (n.691-26C>A)
c.781-26C>A (n.781-26C>A)
c.892-26C>A (n.892-26C>A)
n.428+5600C>A
c.925-26C>A (n.925-26C>A)
c.283-26C>A (n.283-26C>A)
 dbSNP
19g.40605703C=CA2336060140LTBP4c.691-26C= (n.691-26C=)
c.781-26C= (n.781-26C=)
c.892-26C= (n.892-26C=)
n.428+5600C=
c.925-26C= (n.925-26C=)
c.283-26C= (n.283-26C=)
19g.40605703C>TCA2585156310LTBP4c.691-26C>T (n.691-26C>T)
c.781-26C>T (n.781-26C>T)
c.892-26C>T (n.892-26C>T)
n.428+5600C>T
c.925-26C>T (n.925-26C>T)
c.283-26C>T (n.283-26C>T)
 gnomAD v4
19g.40605704G>ACA633466931LTBP4c.691-25G>A (n.691-25G>A)
c.781-25G>A (n.781-25G>A)
c.892-25G>A (n.892-25G>A)
n.428+5601G>A
c.925-25G>A (n.925-25G>A)
c.283-25G>A (n.283-25G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.40605704G=CA2336060142LTBP4c.691-25G= (n.691-25G=)
c.781-25G= (n.781-25G=)
c.892-25G= (n.892-25G=)
n.428+5601G=
c.925-25G= (n.925-25G=)
c.283-25G= (n.283-25G=)
19g.40605705C>ACA9448091LTBP4c.691-24C>A (n.691-24C>A)
c.781-24C>A (n.781-24C>A)
c.892-24C>A (n.892-24C>A)
n.428+5602C>A
c.925-24C>A (n.925-24C>A)
c.283-24C>A (n.283-24C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605705C=CA2336060143LTBP4c.691-24C= (n.691-24C=)
c.781-24C= (n.781-24C=)
c.892-24C= (n.892-24C=)
n.428+5602C=
c.925-24C= (n.925-24C=)
c.283-24C= (n.283-24C=)
19g.40605705C>GCA2336060144LTBP4c.691-24C>G (n.691-24C>G)
c.781-24C>G (n.781-24C>G)
c.892-24C>G (n.892-24C>G)
n.428+5602C>G
c.925-24C>G (n.925-24C>G)
c.283-24C>G (n.283-24C>G)
 dbSNP
19g.40605705C>TCA308447866LTBP4c.691-24C>T (n.691-24C>T)
c.781-24C>T (n.781-24C>T)
c.892-24C>T (n.892-24C>T)
n.428+5602C>T
c.925-24C>T (n.925-24C>T)
c.283-24C>T (n.283-24C>T)
 dbSNP gnomAD v4
19g.40605706G>ACA2585156311LTBP4c.691-23G>A (n.691-23G>A)
c.781-23G>A (n.781-23G>A)
c.892-23G>A (n.892-23G>A)
n.428+5603G>A
c.925-23G>A (n.925-23G>A)
c.283-23G>A (n.283-23G>A)
 gnomAD v4
19g.40605706G>CCA2585156312LTBP4c.691-23G>C (n.691-23G>C)
c.781-23G>C (n.781-23G>C)
c.892-23G>C (n.892-23G>C)
n.428+5603G>C
c.925-23G>C (n.925-23G>C)
c.283-23G>C (n.283-23G>C)
 gnomAD v4
19g.40605708T>ACA2336060146LTBP4c.691-21T>A (n.691-21T>A)
c.781-21T>A (n.781-21T>A)
c.892-21T>A (n.892-21T>A)
n.428+5605T>A
c.925-21T>A (n.925-21T>A)
c.283-21T>A (n.283-21T>A)
 dbSNP gnomAD v4
19g.40605708T=CA2336060145LTBP4c.691-21T= (n.691-21T=)
c.781-21T= (n.781-21T=)
c.892-21T= (n.892-21T=)
n.428+5605T=
c.925-21T= (n.925-21T=)
c.283-21T= (n.283-21T=)
19g.40605709C>ACA2336060148LTBP4c.691-20C>A (n.691-20C>A)
c.781-20C>A (n.781-20C>A)
c.892-20C>A (n.892-20C>A)
n.428+5606C>A
c.925-20C>A (n.925-20C>A)
c.283-20C>A (n.283-20C>A)
 dbSNP gnomAD v4
19g.40605709C=CA2336060147LTBP4c.691-20C= (n.691-20C=)
c.781-20C= (n.781-20C=)
c.892-20C= (n.892-20C=)
n.428+5606C=
c.925-20C= (n.925-20C=)
c.283-20C= (n.283-20C=)
19g.40605709C>TCA995924661LTBP4c.691-20C>T (n.691-20C>T)
c.781-20C>T (n.781-20C>T)
c.892-20C>T (n.892-20C>T)
n.428+5606C>T
c.925-20C>T (n.925-20C>T)
c.283-20C>T (n.283-20C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.40605711C=CA2336060149LTBP4c.691-18C= (n.691-18C=)
c.781-18C= (n.781-18C=)
c.892-18C= (n.892-18C=)
n.428+5608C=
c.925-18C= (n.925-18C=)
c.283-18C= (n.283-18C=)
19g.40605711C>TCA308447870LTBP4c.691-18C>T (n.691-18C>T)
c.781-18C>T (n.781-18C>T)
c.892-18C>T (n.892-18C>T)
n.428+5608C>T
c.925-18C>T (n.925-18C>T)
c.283-18C>T (n.283-18C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605712C=CA2336060150LTBP4c.691-17C= (n.691-17C=)
c.781-17C= (n.781-17C=)
c.892-17C= (n.892-17C=)
n.428+5609C=
c.925-17C= (n.925-17C=)
c.283-17C= (n.283-17C=)
19g.40605712C>GCA9448092LTBP4c.691-17C>G (n.691-17C>G)
c.781-17C>G (n.781-17C>G)
c.892-17C>G (n.892-17C>G)
n.428+5609C>G
c.925-17C>G (n.925-17C>G)
c.283-17C>G (n.283-17C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605714A>TCA2576787762LTBP4c.691-15A>T (n.691-15A>T)
c.781-15A>T (n.781-15A>T)
c.892-15A>T (n.892-15A>T)
n.428+5611A>T
c.925-15A>T (n.925-15A>T)
c.283-15A>T (n.283-15A>T)
19g.40605717A=CA2336060151LTBP4c.691-12A= (n.691-12A=)
c.781-12A= (n.781-12A=)
c.892-12A= (n.892-12A=)
n.428+5614A=
c.925-12A= (n.925-12A=)
c.283-12A= (n.283-12A=)
19g.40605717A>CCA2336060152LTBP4c.691-12A>C (n.691-12A>C)
c.781-12A>C (n.781-12A>C)
c.892-12A>C (n.892-12A>C)
n.428+5614A>C
c.925-12A>C (n.925-12A>C)
c.283-12A>C (n.283-12A>C)
 dbSNP
19g.40605718C>GCA2585156313LTBP4c.691-11C>G (n.691-11C>G)
c.781-11C>G (n.781-11C>G)
c.892-11C>G (n.892-11C>G)
n.428+5615C>G
c.925-11C>G (n.925-11C>G)
c.283-11C>G (n.283-11C>G)
 gnomAD v4
19g.40605719T>ACA633466932LTBP4c.691-10T>A (n.691-10T>A)
c.781-10T>A (n.781-10T>A)
c.892-10T>A (n.892-10T>A)
n.428+5616T>A
c.925-10T>A (n.925-10T>A)
c.283-10T>A (n.283-10T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605719T>GCA2546369607LTBP4c.691-10T>G (n.691-10T>G)
c.781-10T>G (n.781-10T>G)
c.892-10T>G (n.892-10T>G)
n.428+5616T>G
c.925-10T>G (n.925-10T>G)
c.283-10T>G (n.283-10T>G)
19g.40605719T=CA2336060153LTBP4c.691-10T= (n.691-10T=)
c.781-10T= (n.781-10T=)
c.892-10T= (n.892-10T=)
n.428+5616T=
c.925-10T= (n.925-10T=)
c.283-10T= (n.283-10T=)
19g.40605721C>ACA995924670LTBP4c.691-8C>A (n.691-8C>A)
c.781-8C>A (n.781-8C>A)
c.892-8C>A (n.892-8C>A)
n.428+5618C>A
c.925-8C>A (n.925-8C>A)
c.283-8C>A (n.283-8C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.40605721C=CA2336060154LTBP4c.691-8C= (n.691-8C=)
c.781-8C= (n.781-8C=)
c.892-8C= (n.892-8C=)
n.428+5618C=
c.925-8C= (n.925-8C=)
c.283-8C= (n.283-8C=)
19g.40605721C>TCA2585156314LTBP4c.691-8C>T (n.691-8C>T)
c.781-8C>T (n.781-8C>T)
c.892-8C>T (n.892-8C>T)
n.428+5618C>T
c.925-8C>T (n.925-8C>T)
c.283-8C>T (n.283-8C>T)
 gnomAD v4
19g.40605722C=CA2336060155LTBP4c.691-7C= (n.691-7C=)
c.781-7C= (n.781-7C=)
c.892-7C= (n.892-7C=)
n.428+5619C=
c.925-7C= (n.925-7C=)
c.283-7C= (n.283-7C=)
19g.40605722C>TCA9448093LTBP4c.691-7C>T (n.691-7C>T)
c.781-7C>T (n.781-7C>T)
c.892-7C>T (n.892-7C>T)
n.428+5619C>T
c.925-7C>T (n.925-7C>T)
c.283-7C>T (n.283-7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605723C>TCA2585156315LTBP4c.691-6C>T (n.691-6C>T)
c.781-6C>T (n.781-6C>T)
c.892-6C>T (n.892-6C>T)
n.428+5620C>T
c.925-6C>T (n.925-6C>T)
c.283-6C>T (n.283-6C>T)
 gnomAD v4
19g.40605724C=CA2336060156LTBP4c.691-5C= (n.691-5C=)
c.781-5C= (n.781-5C=)
c.892-5C= (n.892-5C=)
n.428+5621C=
c.925-5C= (n.925-5C=)
c.283-5C= (n.283-5C=)
19g.40605724C>GCA995924675LTBP4c.691-5C>G (n.691-5C>G)
c.781-5C>G (n.781-5C>G)
c.892-5C>G (n.892-5C>G)
n.428+5621C>G
c.925-5C>G (n.925-5C>G)
c.283-5C>G (n.283-5C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.40605724C>TCA995924676LTBP4c.691-5C>T (n.691-5C>T)
c.781-5C>T (n.781-5C>T)
c.892-5C>T (n.892-5C>T)
n.428+5621C>T
c.925-5C>T (n.925-5C>T)
c.283-5C>T (n.283-5C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.40605725G>ACA2576787763LTBP4c.691-4G>A (n.691-4G>A)
c.781-4G>A (n.781-4G>A)
c.892-4G>A (n.892-4G>A)
n.428+5622G>A
c.925-4G>A (n.925-4G>A)
c.283-4G>A (n.283-4G>A)
19g.40605725G=CA2336060157LTBP4c.691-4G= (n.691-4G=)
c.781-4G= (n.781-4G=)
c.892-4G= (n.892-4G=)
n.428+5622G=
c.925-4G= (n.925-4G=)
c.283-4G= (n.283-4G=)
19g.40605725G>TCA633466933LTBP4c.691-4G>T (n.691-4G>T)
c.781-4G>T (n.781-4G>T)
c.892-4G>T (n.892-4G>T)
n.428+5622G>T
c.925-4G>T (n.925-4G>T)
c.283-4G>T (n.283-4G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.40605726C>TCA2585156316LTBP4c.691-3C>T (n.691-3C>T)
c.781-3C>T (n.781-3C>T)
c.892-3C>T (n.892-3C>T)
n.428+5623C>T
c.925-3C>T (n.925-3C>T)
c.283-3C>T (n.283-3C>T)
 gnomAD v4
19g.40605727A>CCA405933761LTBP4c.691-2A>C (n.691-2A>C)
c.781-2A>C (n.781-2A>C)
c.892-2A>C (n.892-2A>C)
n.428+5624A>C
c.925-2A>C (n.925-2A>C)
c.283-2A>C (n.283-2A>C)
19g.40605727A>GCA405933765LTBP4c.691-2A>G (n.691-2A>G)
c.781-2A>G (n.781-2A>G)
c.892-2A>G (n.892-2A>G)
n.428+5624A>G
c.925-2A>G (n.925-2A>G)
c.283-2A>G (n.283-2A>G)
19g.40605727A>TCA405933762LTBP4c.691-2A>T (n.691-2A>T)
c.781-2A>T (n.781-2A>T)
c.892-2A>T (n.892-2A>T)
n.428+5624A>T
c.925-2A>T (n.925-2A>T)
c.283-2A>T (n.283-2A>T)
19g.40605728G>ACA405933767LTBP4c.691-1G>A (n.691-1G>A)
c.781-1G>A (n.781-1G>A)
c.892-1G>A (n.892-1G>A)
n.428+5625G>A
c.925-1G>A (n.925-1G>A)
c.283-1G>A (n.283-1G>A)
19g.40605728G>CCA405933769LTBP4c.691-1G>C (n.691-1G>C)
c.781-1G>C (n.781-1G>C)
c.892-1G>C (n.892-1G>C)
n.428+5625G>C
c.925-1G>C (n.925-1G>C)
c.283-1G>C (n.283-1G>C)
19g.40605728G>TCA405933768LTBP4c.691-1G>T (n.691-1G>T)
c.781-1G>T (n.781-1G>T)
c.892-1G>T (n.892-1G>T)
n.428+5625G>T
c.925-1G>T (n.925-1G>T)
c.283-1G>T (n.283-1G>T)
19g.40605729T>ACA405933771LTBP4c.691T>A (p.Cys231Ser)
c.781T>A (p.Cys261Ser)
c.892T>A (p.Cys298Ser)
n.428+5626T>A
c.925T>A (p.Cys309Ser)
c.283T>A (p.Cys95Ser)
 gnomAD v4
19g.40605729T>CCA405933772LTBP4c.691T>C (p.Cys231Arg)
c.781T>C (p.Cys261Arg)
c.892T>C (p.Cys298Arg)
n.428+5626T>C
c.925T>C (p.Cys309Arg)
c.283T>C (p.Cys95Arg)
 gnomAD v4
19g.40605729T>GCA405933773LTBP4c.691T>G (p.Cys231Gly)
c.781T>G (p.Cys261Gly)
c.892T>G (p.Cys298Gly)
n.428+5626T>G
c.925T>G (p.Cys309Gly)
c.283T>G (p.Cys95Gly)
19g.40605730G>ACA405933776LTBP4c.692G>A (p.Cys231Tyr)
c.782G>A (p.Cys261Tyr)
c.893G>A (p.Cys298Tyr)
n.428+5627G>A
c.926G>A (p.Cys309Tyr)
c.284G>A (p.Cys95Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.40605730G>CCA405933777LTBP4c.692G>C (p.Cys231Ser)
c.782G>C (p.Cys261Ser)
c.893G>C (p.Cys298Ser)
n.428+5627G>C
c.926G>C (p.Cys309Ser)
c.284G>C (p.Cys95Ser)
19g.40605730G=CA2336060158LTBP4c.692G= (p.Cys231=)
c.782G= (p.Cys261=)
c.893G= (p.Cys298=)
n.428+5627G=
c.926G= (p.Cys309=)
c.284G= (p.Cys95=)
19g.40605730G>TCA405933779LTBP4c.692G>T (p.Cys231Phe)
c.782G>T (p.Cys261Phe)
c.893G>T (p.Cys298Phe)
n.428+5627G>T
c.926G>T (p.Cys309Phe)
c.284G>T (p.Cys95Phe)
19g.40605731C>ACA405933781LTBP4c.693C>A (p.Cys231Ter)
c.783C>A (p.Cys261Ter)
c.894C>A (p.Cys298Ter)
n.428+5628C>A
c.927C>A (p.Cys309Ter)
c.285C>A (p.Cys95Ter)
19g.40605731C>GCA405933783LTBP4c.693C>G (p.Cys231Trp)
c.783C>G (p.Cys261Trp)
c.894C>G (p.Cys298Trp)
n.428+5628C>G
c.927C>G (p.Cys309Trp)
c.285C>G (p.Cys95Trp)
19g.40605731C>TCA507684632LTBP4c.693C>T (p.Cys231=)
c.783C>T (p.Cys261=)
c.894C>T (p.Cys298=)
n.428+5628C>T
c.927C>T (p.Cys309=)
c.285C>T (p.Cys95=)
 gnomAD v4
19g.40605732G>ACA405933784LTBP4c.694G>A (p.Ala232Thr)
c.784G>A (p.Ala262Thr)
c.895G>A (p.Ala299Thr)
n.428+5629G>A
c.928G>A (p.Ala310Thr)
c.286G>A (p.Ala96Thr)
19g.40605732G>CCA405933786LTBP4c.694G>C (p.Ala232Pro)
c.784G>C (p.Ala262Pro)
c.895G>C (p.Ala299Pro)
n.428+5629G>C
c.928G>C (p.Ala310Pro)
c.286G>C (p.Ala96Pro)
19g.40605732G>TCA405933787LTBP4c.694G>T (p.Ala232Ser)
c.784G>T (p.Ala262Ser)
c.895G>T (p.Ala299Ser)
n.428+5629G>T
c.928G>T (p.Ala310Ser)
c.286G>T (p.Ala96Ser)
 gnomAD v4
19g.40605733C>ACA405933793LTBP4c.695C>A (p.Ala232Glu)
c.785C>A (p.Ala262Glu)
c.896C>A (p.Ala299Glu)
n.428+5630C>A
c.929C>A (p.Ala310Glu)
c.287C>A (p.Ala96Glu)
19g.40605733C=CA2336060159LTBP4c.695C= (p.Ala232=)
c.785C= (p.Ala262=)
c.896C= (p.Ala299=)
n.428+5630C=
c.929C= (p.Ala310=)
c.287C= (p.Ala96=)
19g.40605733C>GCA405933789LTBP4c.695C>G (p.Ala232Gly)
c.785C>G (p.Ala262Gly)
c.896C>G (p.Ala299Gly)
n.428+5630C>G
c.929C>G (p.Ala310Gly)
c.287C>G (p.Ala96Gly)
19g.40605733C>TCA405933791LTBP4c.695C>T (p.Ala232Val)
c.785C>T (p.Ala262Val)
c.896C>T (p.Ala299Val)
n.428+5630C>T
c.929C>T (p.Ala310Val)
c.287C>T (p.Ala96Val)
 dbSNP
19g.40605734G>ACA507684633LTBP4c.696G>A (p.Ala232=)
c.786G>A (p.Ala262=)
c.897G>A (p.Ala299=)
n.428+5631G>A
c.930G>A (p.Ala310=)
c.288G>A (p.Ala96=)
19g.40605734G>CCA507684634LTBP4c.696G>C (p.Ala232=)
c.786G>C (p.Ala262=)
c.897G>C (p.Ala299=)
n.428+5631G>C
c.930G>C (p.Ala310=)
c.288G>C (p.Ala96=)
19g.40605734G>TCA507684635LTBP4c.696G>T (p.Ala232=)
c.786G>T (p.Ala262=)
c.897G>T (p.Ala299=)
n.428+5631G>T
c.930G>T (p.Ala310=)
c.288G>T (p.Ala96=)
 gnomAD v4
19g.40605735T>ACA405933796LTBP4c.697T>A (p.Ser233Thr)
c.787T>A (p.Ser263Thr)
c.898T>A (p.Ser300Thr)
n.428+5632T>A
c.931T>A (p.Ser311Thr)
c.289T>A (p.Ser97Thr)
 dbSNP gnomAD v2 gnomAD v4
19g.40605735T>CCA405933797LTBP4c.697T>C (p.Ser233Pro)
c.787T>C (p.Ser263Pro)
c.898T>C (p.Ser300Pro)
n.428+5632T>C
c.931T>C (p.Ser311Pro)
c.289T>C (p.Ser97Pro)
19g.40605735T>GCA405933799LTBP4c.697T>G (p.Ser233Ala)
c.787T>G (p.Ser263Ala)
c.898T>G (p.Ser300Ala)
n.428+5632T>G
c.931T>G (p.Ser311Ala)
c.289T>G (p.Ser97Ala)
19g.40605735T=CA2336060161LTBP4c.697T= (p.Ser233=)
c.787T= (p.Ser263=)
c.898T= (p.Ser300=)
n.428+5632T=
c.931T= (p.Ser311=)
c.289T= (p.Ser97=)
19g.40605735_40605736delinsTCCA2336060160LTBP4c.697_698delinsTC (p.Ser233=)
c.787_788delinsTC (p.Ser263=)
c.898_899delinsTC (p.Ser300=)
n.428+5632_428+5633delinsTC
c.931_932delinsTC (p.Ser311=)
c.289_290delinsTC (p.Ser97=)
19g.40605736C>ACA405933801LTBP4c.698C>A (p.Ser233Tyr)
c.788C>A (p.Ser263Tyr)
c.899C>A (p.Ser300Tyr)
n.428+5633C>A
c.932C>A (p.Ser311Tyr)
c.290C>A (p.Ser97Tyr)
19g.40605736C=CA2336060162LTBP4c.698C= (p.Ser233=)
c.788C= (p.Ser263=)
c.899C= (p.Ser300=)
n.428+5633C=
c.932C= (p.Ser311=)
c.290C= (p.Ser97=)
19g.40605736C>GCA405933803LTBP4c.698C>G (p.Ser233Cys)
c.788C>G (p.Ser263Cys)
c.899C>G (p.Ser300Cys)
n.428+5633C>G
c.932C>G (p.Ser311Cys)
c.290C>G (p.Ser97Cys)
19g.40605736C>TCA10642834LTBP4c.698C>T (p.Ser233Phe)
c.788C>T (p.Ser263Phe)
c.899C>T (p.Ser300Phe)
n.428+5633C>T
c.932C>T (p.Ser311Phe)
c.290C>T (p.Ser97Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605739delCA212832LTBP4c.701del (p.Pro234ArgfsTer?)
c.791del (p.Pro264ArgfsTer?)
c.902del (p.Pro301ArgfsTer?)
n.429-5635del
c.935del (p.Pro312ArgfsTer?)
c.293del (p.Pro98ArgfsTer?)
 ClinVar dbSNP
19g.40605737C>ACA507684636LTBP4c.699C>A (p.Ser233=)
c.789C>A (p.Ser263=)
c.900C>A (p.Ser300=)
n.428+5634C>A
c.933C>A (p.Ser311=)
c.291C>A (p.Ser97=)
19g.40605737C>GCA507684637LTBP4c.699C>G (p.Ser233=)
c.789C>G (p.Ser263=)
c.900C>G (p.Ser300=)
n.428+5634C>G
c.933C>G (p.Ser311=)
c.291C>G (p.Ser97=)
19g.40605737C>TCA507684638LTBP4c.699C>T (p.Ser233=)
c.789C>T (p.Ser263=)
c.900C>T (p.Ser300=)
n.428+5634C>T
c.933C>T (p.Ser311=)
c.291C>T (p.Ser97=)
19g.40605738C>ACA405933806LTBP4c.700C>A (p.Pro234Thr)
c.790C>A (p.Pro264Thr)
c.901C>A (p.Pro301Thr)
n.429-5636C>A
c.934C>A (p.Pro312Thr)
c.292C>A (p.Pro98Thr)
 gnomAD v4
19g.40605738C>GCA405933808LTBP4c.700C>G (p.Pro234Ala)
c.790C>G (p.Pro264Ala)
c.901C>G (p.Pro301Ala)
n.429-5636C>G
c.934C>G (p.Pro312Ala)
c.292C>G (p.Pro98Ala)
19g.40605738C>TCA405933810LTBP4c.700C>T (p.Pro234Ser)
c.790C>T (p.Pro264Ser)
c.901C>T (p.Pro301Ser)
n.429-5636C>T
c.934C>T (p.Pro312Ser)
c.292C>T (p.Pro98Ser)
 gnomAD v4
19g.40605739C>ACA405933814LTBP4c.701C>A (p.Pro234Gln)
c.791C>A (p.Pro264Gln)
c.902C>A (p.Pro301Gln)
n.429-5635C>A
c.935C>A (p.Pro312Gln)
c.293C>A (p.Pro98Gln)
 gnomAD v4
19g.40605739C>GCA405933815LTBP4c.701C>G (p.Pro234Arg)
c.791C>G (p.Pro264Arg)
c.902C>G (p.Pro301Arg)
n.429-5635C>G
c.935C>G (p.Pro312Arg)
c.293C>G (p.Pro98Arg)
19g.40605739C>TCA405933812LTBP4c.701C>T (p.Pro234Leu)
c.791C>T (p.Pro264Leu)
c.902C>T (p.Pro301Leu)
n.429-5635C>T
c.935C>T (p.Pro312Leu)
c.293C>T (p.Pro98Leu)
 gnomAD v4
19g.40605740G>ACA507684639LTBP4c.702G>A (p.Pro234=)
c.792G>A (p.Pro264=)
c.903G>A (p.Pro301=)
n.429-5634G>A
c.936G>A (p.Pro312=)
c.294G>A (p.Pro98=)
 gnomAD v4
19g.40605740G>CCA507684640LTBP4c.702G>C (p.Pro234=)
c.792G>C (p.Pro264=)
c.903G>C (p.Pro301=)
n.429-5634G>C
c.936G>C (p.Pro312=)
c.294G>C (p.Pro98=)
19g.40605740G>TCA507684641LTBP4c.702G>T (p.Pro234=)
c.792G>T (p.Pro264=)
c.903G>T (p.Pro301=)
n.429-5634G>T
c.936G>T (p.Pro312=)
c.294G>T (p.Pro98=)
 gnomAD v4
19g.40605746_40605774delCA2585156317LTBP4c.708_736del (p.Gly237ArgfsTer?)
c.798_826del (p.Gly267ArgfsTer?)
c.909_937del (p.Gly304ArgfsTer?)
n.429-5628_429-5600del
c.942_970del (p.Gly315ArgfsTer?)
c.300_328del (p.Gly101ArgfsTer?)
 gnomAD v4
19g.40605741C>ACA308447880LTBP4c.703C>A (p.Leu235Met)
c.793C>A (p.Leu265Met)
c.904C>A (p.Leu302Met)
n.429-5633C>A
c.937C>A (p.Leu313Met)
c.295C>A (p.Leu99Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605741C=CA2336060163LTBP4c.703C= (p.Leu235=)
c.793C= (p.Leu265=)
c.904C= (p.Leu302=)
n.429-5633C=
c.937C= (p.Leu313=)
c.295C= (p.Leu99=)
19g.40605741C>GCA405933818LTBP4c.703C>G (p.Leu235Val)
c.793C>G (p.Leu265Val)
c.904C>G (p.Leu302Val)
n.429-5633C>G
c.937C>G (p.Leu313Val)
c.295C>G (p.Leu99Val)
19g.40605741C>TCA507684642LTBP4c.703C>T (p.Leu235=)
c.793C>T (p.Leu265=)
c.904C>T (p.Leu302=)
n.429-5633C>T
c.937C>T (p.Leu313=)
c.295C>T (p.Leu99=)
19g.40605742T>ACA405933820LTBP4c.704T>A (p.Leu235Gln)
c.794T>A (p.Leu265Gln)
c.905T>A (p.Leu302Gln)
n.429-5632T>A
c.938T>A (p.Leu313Gln)
c.296T>A (p.Leu99Gln)
19g.40605742T>CCA405933822LTBP4c.704T>C (p.Leu235Pro)
c.794T>C (p.Leu265Pro)
c.905T>C (p.Leu302Pro)
n.429-5632T>C
c.938T>C (p.Leu313Pro)
c.296T>C (p.Leu99Pro)
19g.40605742T>GCA405933823LTBP4c.704T>G (p.Leu235Arg)
c.794T>G (p.Leu265Arg)
c.905T>G (p.Leu302Arg)
n.429-5632T>G
c.938T>G (p.Leu313Arg)
c.296T>G (p.Leu99Arg)
19g.40605743G>ACA507684643LTBP4c.705G>A (p.Leu235=)
c.795G>A (p.Leu265=)
c.906G>A (p.Leu302=)
n.429-5631G>A
c.939G>A (p.Leu313=)
c.297G>A (p.Leu99=)
 gnomAD v4
19g.40605743G>CCA507684645LTBP4c.705G>C (p.Leu235=)
c.795G>C (p.Leu265=)
c.906G>C (p.Leu302=)
n.429-5631G>C
c.939G>C (p.Leu313=)
c.297G>C (p.Leu99=)
 gnomAD v4
19g.40605743G>TCA507684644LTBP4c.705G>T (p.Leu235=)
c.795G>T (p.Leu265=)
c.906G>T (p.Leu302=)
n.429-5631G>T
c.939G>T (p.Leu313=)
c.297G>T (p.Leu99=)
 gnomAD v4
19g.40605744C>ACA405933825LTBP4c.706C>A (p.Pro236Thr)
c.796C>A (p.Pro266Thr)
c.907C>A (p.Pro303Thr)
n.429-5630C>A
c.940C>A (p.Pro314Thr)
c.298C>A (p.Pro100Thr)
 gnomAD v4
19g.40605744C=CA2336060164LTBP4c.706C= (p.Pro236=)
c.796C= (p.Pro266=)
c.907C= (p.Pro303=)
n.429-5630C=
c.940C= (p.Pro314=)
c.298C= (p.Pro100=)
19g.40605744C>GCA405933827LTBP4c.706C>G (p.Pro236Ala)
c.796C>G (p.Pro266Ala)
c.907C>G (p.Pro303Ala)
n.429-5630C>G
c.940C>G (p.Pro314Ala)
c.298C>G (p.Pro100Ala)
19g.40605744C>TCA308447883LTBP4c.706C>T (p.Pro236Ser)
c.796C>T (p.Pro266Ser)
c.907C>T (p.Pro303Ser)
n.429-5630C>T
c.940C>T (p.Pro314Ser)
c.298C>T (p.Pro100Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.40605745C>ACA405933830LTBP4c.707C>A (p.Pro236His)
c.797C>A (p.Pro266His)
c.908C>A (p.Pro303His)
n.429-5629C>A
c.941C>A (p.Pro314His)
c.299C>A (p.Pro100His)
19g.40605745C>GCA405933831LTBP4c.707C>G (p.Pro236Arg)
c.797C>G (p.Pro266Arg)
c.908C>G (p.Pro303Arg)
n.429-5629C>G
c.941C>G (p.Pro314Arg)
c.299C>G (p.Pro100Arg)
19g.40605745C>TCA405933833LTBP4c.707C>T (p.Pro236Leu)
c.797C>T (p.Pro266Leu)
c.908C>T (p.Pro303Leu)
n.429-5629C>T
c.941C>T (p.Pro314Leu)
c.299C>T (p.Pro100Leu)
19g.40605746C>ACA9448094LTBP4c.708C>A (p.Pro236=)
c.798C>A (p.Pro266=)
c.909C>A (p.Pro303=)
n.429-5628C>A
c.942C>A (p.Pro314=)
c.300C>A (p.Pro100=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605746C=CA2336060165LTBP4c.708C= (p.Pro236=)
c.798C= (p.Pro266=)
c.909C= (p.Pro303=)
n.429-5628C=
c.942C= (p.Pro314=)
c.300C= (p.Pro100=)
19g.40605746C>GCA507684431LTBP4c.708C>G (p.Pro236=)
c.798C>G (p.Pro266=)
c.909C>G (p.Pro303=)
n.429-5628C>G
c.942C>G (p.Pro314=)
c.300C>G (p.Pro100=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605746C>TCA507684432LTBP4c.708C>T (p.Pro236=)
c.798C>T (p.Pro266=)
c.909C>T (p.Pro303=)
n.429-5628C>T
c.942C>T (p.Pro314=)
c.300C>T (p.Pro100=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605747G>ACA405933837LTBP4c.709G>A (p.Gly237Arg)
c.799G>A (p.Gly267Arg)
c.910G>A (p.Gly304Arg)
n.429-5627G>A
c.943G>A (p.Gly315Arg)
c.301G>A (p.Gly101Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.40605747G>CCA405933840LTBP4c.709G>C (p.Gly237Arg)
c.799G>C (p.Gly267Arg)
c.910G>C (p.Gly304Arg)
n.429-5627G>C
c.943G>C (p.Gly315Arg)
c.301G>C (p.Gly101Arg)
19g.40605747G=CA2336060166LTBP4c.709G= (p.Gly237=)
c.799G= (p.Gly267=)
c.910G= (p.Gly304=)
n.429-5627G=
c.943G= (p.Gly315=)
c.301G= (p.Gly101=)
19g.40605747G>TCA405933838LTBP4c.709G>T (p.Gly237Trp)
c.799G>T (p.Gly267Trp)
c.910G>T (p.Gly304Trp)
n.429-5627G>T
c.943G>T (p.Gly315Trp)
c.301G>T (p.Gly101Trp)
 gnomAD v4
19g.40605748G>ACA405933842LTBP4c.710G>A (p.Gly237Glu)
c.800G>A (p.Gly267Glu)
c.911G>A (p.Gly304Glu)
n.429-5626G>A
c.944G>A (p.Gly315Glu)
c.302G>A (p.Gly101Glu)
19g.40605748G>CCA405933844LTBP4c.710G>C (p.Gly237Ala)
c.800G>C (p.Gly267Ala)
c.911G>C (p.Gly304Ala)
n.429-5626G>C
c.944G>C (p.Gly315Ala)
c.302G>C (p.Gly101Ala)
19g.40605748G=CA2336060167LTBP4c.710G= (p.Gly237=)
c.800G= (p.Gly267=)
c.911G= (p.Gly304=)
n.429-5626G=
c.944G= (p.Gly315=)
c.302G= (p.Gly101=)
19g.40605748G>TCA308447888LTBP4c.710G>T (p.Gly237Val)
c.800G>T (p.Gly267Val)
c.911G>T (p.Gly304Val)
n.429-5626G>T
c.944G>T (p.Gly315Val)
c.302G>T (p.Gly101Val)
 dbSNP gnomAD v4
19g.40605749G>ACA507684434LTBP4c.711G>A (p.Gly237=)
c.801G>A (p.Gly267=)
c.912G>A (p.Gly304=)
n.429-5625G>A
c.945G>A (p.Gly315=)
c.303G>A (p.Gly101=)
19g.40605749G>CCA507684438LTBP4c.711G>C (p.Gly237=)
c.801G>C (p.Gly267=)
c.912G>C (p.Gly304=)
n.429-5625G>C
c.945G>C (p.Gly315=)
c.303G>C (p.Gly101=)
19g.40605749G=CA2336060168LTBP4c.711G= (p.Gly237=)
c.801G= (p.Gly267=)
c.912G= (p.Gly304=)
n.429-5625G=
c.945G= (p.Gly315=)
c.303G= (p.Gly101=)
19g.40605749G>TCA507684436LTBP4c.711G>T (p.Gly237=)
c.801G>T (p.Gly267=)
c.912G>T (p.Gly304=)
n.429-5625G>T
c.945G>T (p.Gly315=)
c.303G>T (p.Gly101=)
 dbSNP gnomAD v2 gnomAD v4
19g.40605750C>ACA405933846LTBP4c.712C>A (p.Leu238Ile)
c.802C>A (p.Leu268Ile)
c.913C>A (p.Leu305Ile)
n.429-5624C>A
c.946C>A (p.Leu316Ile)
c.304C>A (p.Leu102Ile)
19g.40605750C=CA2336060169LTBP4c.712C= (p.Leu238=)
c.802C= (p.Leu268=)
c.913C= (p.Leu305=)
n.429-5624C=
c.946C= (p.Leu316=)
c.304C= (p.Leu102=)
19g.40605750C>GCA405933847LTBP4c.712C>G (p.Leu238Val)
c.802C>G (p.Leu268Val)
c.913C>G (p.Leu305Val)
n.429-5624C>G
c.946C>G (p.Leu316Val)
c.304C>G (p.Leu102Val)
19g.40605750C>TCA9448095LTBP4c.712C>T (p.Leu238Phe)
c.802C>T (p.Leu268Phe)
c.913C>T (p.Leu305Phe)
n.429-5624C>T
c.946C>T (p.Leu316Phe)
c.304C>T (p.Leu102Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605751T>ACA405933850LTBP4c.713T>A (p.Leu238His)
c.803T>A (p.Leu268His)
c.914T>A (p.Leu305His)
n.429-5623T>A
c.947T>A (p.Leu316His)
c.305T>A (p.Leu102His)
19g.40605751T>CCA405933851LTBP4c.713T>C (p.Leu238Pro)
c.803T>C (p.Leu268Pro)
c.914T>C (p.Leu305Pro)
n.429-5623T>C
c.947T>C (p.Leu316Pro)
c.305T>C (p.Leu102Pro)
 gnomAD v4
19g.40605751T>GCA405933853LTBP4c.713T>G (p.Leu238Arg)
c.803T>G (p.Leu268Arg)
c.914T>G (p.Leu305Arg)
n.429-5623T>G
c.947T>G (p.Leu316Arg)
c.305T>G (p.Leu102Arg)
19g.40605752C>ACA507684442LTBP4c.714C>A (p.Leu238=)
c.804C>A (p.Leu268=)
c.915C>A (p.Leu305=)
n.429-5622C>A
c.948C>A (p.Leu316=)
c.306C>A (p.Leu102=)
19g.40605752C>GCA507684443LTBP4c.714C>G (p.Leu238=)
c.804C>G (p.Leu268=)
c.915C>G (p.Leu305=)
n.429-5622C>G
c.948C>G (p.Leu316=)
c.306C>G (p.Leu102=)
19g.40605752C>TCA507684444LTBP4c.714C>T (p.Leu238=)
c.804C>T (p.Leu268=)
c.915C>T (p.Leu305=)
n.429-5622C>T
c.948C>T (p.Leu316=)
c.306C>T (p.Leu102=)
 COSMIC COSMIC
19g.40605753C>ACA507684445LTBP4c.715C>A (p.Arg239=)
c.805C>A (p.Arg269=)
c.916C>A (p.Arg306=)
n.429-5621C>A
c.949C>A (p.Arg317=)
c.307C>A (p.Arg103=)
19g.40605753C=CA2336060170LTBP4c.715C= (p.Arg239=)
c.805C= (p.Arg269=)
c.916C= (p.Arg306=)
n.429-5621C=
c.949C= (p.Arg317=)
c.307C= (p.Arg103=)
19g.40605753C>GCA405933855LTBP4c.715C>G (p.Arg239Gly)
c.805C>G (p.Arg269Gly)
c.916C>G (p.Arg306Gly)
n.429-5621C>G
c.949C>G (p.Arg317Gly)
c.307C>G (p.Arg103Gly)
19g.40605753C>TCA405933857LTBP4c.715C>T (p.Arg239Trp)
c.805C>T (p.Arg269Trp)
c.916C>T (p.Arg306Trp)
n.429-5621C>T
c.949C>T (p.Arg317Trp)
c.307C>T (p.Arg103Trp)
 dbSNP gnomAD v2 gnomAD v4
19g.40605754G>ACA405933861LTBP4c.716G>A (p.Arg239Gln)
c.806G>A (p.Arg269Gln)
c.917G>A (p.Arg306Gln)
n.429-5620G>A
c.950G>A (p.Arg317Gln)
c.308G>A (p.Arg103Gln)
 COSMIC COSMIC COSMIC
19g.40605754G>CCA405933863LTBP4c.716G>C (p.Arg239Pro)
c.806G>C (p.Arg269Pro)
c.917G>C (p.Arg306Pro)
n.429-5620G>C
c.950G>C (p.Arg317Pro)
c.308G>C (p.Arg103Pro)
 dbSNP
19g.40605754G=CA2336060171LTBP4c.716G= (p.Arg239=)
c.806G= (p.Arg269=)
c.917G= (p.Arg306=)
n.429-5620G=
c.950G= (p.Arg317=)
c.308G= (p.Arg103=)
19g.40605754G>TCA405933859LTBP4c.716G>T (p.Arg239Leu)
c.806G>T (p.Arg269Leu)
c.917G>T (p.Arg306Leu)
n.429-5620G>T
c.950G>T (p.Arg317Leu)
c.308G>T (p.Arg103Leu)
 dbSNP gnomAD v4
19g.40605755G>ACA507684447LTBP4c.717G>A (p.Arg239=)
c.807G>A (p.Arg269=)
c.918G>A (p.Arg306=)
n.429-5619G>A
c.951G>A (p.Arg317=)
c.309G>A (p.Arg103=)
19g.40605755G>CCA507684448LTBP4c.717G>C (p.Arg239=)
c.807G>C (p.Arg269=)
c.918G>C (p.Arg306=)
n.429-5619G>C
c.951G>C (p.Arg317=)
c.309G>C (p.Arg103=)
19g.40605755G>TCA507684449LTBP4c.717G>T (p.Arg239=)
c.807G>T (p.Arg269=)
c.918G>T (p.Arg306=)
n.429-5619G>T
c.951G>T (p.Arg317=)
c.309G>T (p.Arg103=)
 gnomAD v4
19g.40605756A>CCA405933868LTBP4c.718A>C (p.Thr240Pro)
c.808A>C (p.Thr270Pro)
c.919A>C (p.Thr307Pro)
n.429-5618A>C
c.952A>C (p.Thr318Pro)
c.310A>C (p.Thr104Pro)
19g.40605756A>GCA405933865LTBP4c.718A>G (p.Thr240Ala)
c.808A>G (p.Thr270Ala)
c.919A>G (p.Thr307Ala)
n.429-5618A>G
c.952A>G (p.Thr318Ala)
c.310A>G (p.Thr104Ala)
 gnomAD v4
19g.40605756A>TCA405933866LTBP4c.718A>T (p.Thr240Ser)
c.808A>T (p.Thr270Ser)
c.919A>T (p.Thr307Ser)
n.429-5618A>T
c.952A>T (p.Thr318Ser)
c.310A>T (p.Thr104Ser)
19g.40605757delCA2736065301LTBP4c.719del (p.Thr240SerfsTer?)
c.809del (p.Thr270SerfsTer?)
c.920del (p.Thr307SerfsTer?)
n.429-5617del
c.953del (p.Thr318SerfsTer?)
c.311del (p.Thr104SerfsTer?)
 dbSNP
19g.40605757C>ACA405933869LTBP4c.719C>A (p.Thr240Lys)
c.809C>A (p.Thr270Lys)
c.920C>A (p.Thr307Lys)
n.429-5617C>A
c.953C>A (p.Thr318Lys)
c.311C>A (p.Thr104Lys)
 gnomAD v4
19g.40605757C=CA2336060172LTBP4c.719C= (p.Thr240=)
c.809C= (p.Thr270=)
c.920C= (p.Thr307=)
n.429-5617C=
c.953C= (p.Thr318=)
c.311C= (p.Thr104=)
19g.40605757C>GCA405933870LTBP4c.719C>G (p.Thr240Arg)
c.809C>G (p.Thr270Arg)
c.920C>G (p.Thr307Arg)
n.429-5617C>G
c.953C>G (p.Thr318Arg)
c.311C>G (p.Thr104Arg)
19g.40605757C>TCA405933871LTBP4c.719C>T (p.Thr240Met)
c.809C>T (p.Thr270Met)
c.920C>T (p.Thr307Met)
n.429-5617C>T
c.953C>T (p.Thr318Met)
c.311C>T (p.Thr104Met)
 dbSNP gnomAD v2 gnomAD v4
19g.40605758G>ACA507684454LTBP4c.720G>A (p.Thr240=)
c.810G>A (p.Thr270=)
c.921G>A (p.Thr307=)
n.429-5616G>A
c.954G>A (p.Thr318=)
c.312G>A (p.Thr104=)
 gnomAD v4
19g.40605758G>CCA507684453LTBP4c.720G>C (p.Thr240=)
c.810G>C (p.Thr270=)
c.921G>C (p.Thr307=)
n.429-5616G>C
c.954G>C (p.Thr318=)
c.312G>C (p.Thr104=)
19g.40605758G=CA2336060173LTBP4c.720G= (p.Thr240=)
c.810G= (p.Thr270=)
c.921G= (p.Thr307=)
n.429-5616G=
c.954G= (p.Thr318=)
c.312G= (p.Thr104=)
19g.40605758G>TCA308447891LTBP4c.720G>T (p.Thr240=)
c.810G>T (p.Thr270=)
c.921G>T (p.Thr307=)
n.429-5616G>T
c.954G>T (p.Thr318=)
c.312G>T (p.Thr104=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605759C>ACA405933878LTBP4c.721C>A (p.Gln241Lys)
c.811C>A (p.Gln271Lys)
c.922C>A (p.Gln308Lys)
n.429-5615C>A
c.955C>A (p.Gln319Lys)
c.313C>A (p.Gln105Lys)
 gnomAD v4
19g.40605759C>GCA405933874LTBP4c.721C>G (p.Gln241Glu)
c.811C>G (p.Gln271Glu)
c.922C>G (p.Gln308Glu)
n.429-5615C>G
c.955C>G (p.Gln319Glu)
c.313C>G (p.Gln105Glu)
 dbSNP
19g.40605759C>TCA405933876LTBP4c.721C>T (p.Gln241Ter)
c.811C>T (p.Gln271Ter)
c.922C>T (p.Gln308Ter)
n.429-5615C>T
c.955C>T (p.Gln319Ter)
c.313C>T (p.Gln105Ter)
19g.40605760A=CA2336060174LTBP4c.722A= (p.Gln241=)
c.812A= (p.Gln271=)
c.923A= (p.Gln308=)
n.429-5614A=
c.956A= (p.Gln319=)
c.314A= (p.Gln105=)
19g.40605760A>CCA405933879LTBP4c.722A>C (p.Gln241Pro)
c.812A>C (p.Gln271Pro)
c.923A>C (p.Gln308Pro)
n.429-5614A>C
c.956A>C (p.Gln319Pro)
c.314A>C (p.Gln105Pro)
19g.40605760A>GCA405933881LTBP4c.722A>G (p.Gln241Arg)
c.812A>G (p.Gln271Arg)
c.923A>G (p.Gln308Arg)
n.429-5614A>G
c.956A>G (p.Gln319Arg)
c.314A>G (p.Gln105Arg)
 gnomAD v4
19g.40605760A>TCA405933882LTBP4c.722A>T (p.Gln241Leu)
c.812A>T (p.Gln271Leu)
c.923A>T (p.Gln308Leu)
n.429-5614A>T
c.956A>T (p.Gln319Leu)
c.314A>T (p.Gln105Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.40605761G>ACA507684466LTBP4c.723G>A (p.Gln241=)
c.813G>A (p.Gln271=)
c.924G>A (p.Gln308=)
n.429-5613G>A
c.957G>A (p.Gln319=)
c.315G>A (p.Gln105=)
19g.40605761G>CCA405933883LTBP4c.723G>C (p.Gln241His)
c.813G>C (p.Gln271His)
c.924G>C (p.Gln308His)
n.429-5613G>C
c.957G>C (p.Gln319His)
c.315G>C (p.Gln105His)
19g.40605761G=CA2336060175LTBP4c.723G= (p.Gln241=)
c.813G= (p.Gln271=)
c.924G= (p.Gln308=)
n.429-5613G=
c.957G= (p.Gln319=)
c.315G= (p.Gln105=)
19g.40605761G>TCA405933884LTBP4c.723G>T (p.Gln241His)
c.813G>T (p.Gln271His)
c.924G>T (p.Gln308His)
n.429-5613G>T
c.957G>T (p.Gln319His)
c.315G>T (p.Gln105His)
 dbSNP gnomAD v2 gnomAD v4
19g.40605762G>ACA405933886LTBP4c.724G>A (p.Glu242Lys)
c.814G>A (p.Glu272Lys)
c.925G>A (p.Glu309Lys)
n.429-5612G>A
c.958G>A (p.Glu320Lys)
c.316G>A (p.Glu106Lys)
 gnomAD v4
19g.40605762G>CCA405933889LTBP4c.724G>C (p.Glu242Gln)
c.814G>C (p.Glu272Gln)
c.925G>C (p.Glu309Gln)
n.429-5612G>C
c.958G>C (p.Glu320Gln)
c.316G>C (p.Glu106Gln)
19g.40605762G>TCA405933887LTBP4c.724G>T (p.Glu242Ter)
c.814G>T (p.Glu272Ter)
c.925G>T (p.Glu309Ter)
n.429-5612G>T
c.958G>T (p.Glu320Ter)
c.316G>T (p.Glu106Ter)
 gnomAD v4
19g.40605763A>CCA405933890LTBP4c.725A>C (p.Glu242Ala)
c.815A>C (p.Glu272Ala)
c.926A>C (p.Glu309Ala)
n.429-5611A>C
c.959A>C (p.Glu320Ala)
c.317A>C (p.Glu106Ala)
19g.40605763A>GCA405933892LTBP4c.725A>G (p.Glu242Gly)
c.815A>G (p.Glu272Gly)
c.926A>G (p.Glu309Gly)
n.429-5611A>G
c.959A>G (p.Glu320Gly)
c.317A>G (p.Glu106Gly)
 gnomAD v4
19g.40605763A>TCA405933894LTBP4c.725A>T (p.Glu242Val)
c.815A>T (p.Glu272Val)
c.926A>T (p.Glu309Val)
n.429-5611A>T
c.959A>T (p.Glu320Val)
c.317A>T (p.Glu106Val)
 gnomAD v4
19g.40605764G>ACA507684470LTBP4c.726G>A (p.Glu242=)
c.816G>A (p.Glu272=)
c.927G>A (p.Glu309=)
n.429-5610G>A
c.960G>A (p.Glu320=)
c.318G>A (p.Glu106=)
 dbSNP gnomAD v4
19g.40605764G>CCA405933895LTBP4c.726G>C (p.Glu242Asp)
c.816G>C (p.Glu272Asp)
c.927G>C (p.Glu309Asp)
n.429-5610G>C
c.960G>C (p.Glu320Asp)
c.318G>C (p.Glu106Asp)
19g.40605764G=CA2336060176LTBP4c.726G= (p.Glu242=)
c.816G= (p.Glu272=)
c.927G= (p.Glu309=)
n.429-5610G=
c.960G= (p.Glu320=)
c.318G= (p.Glu106=)
19g.40605764G>TCA405933897LTBP4c.726G>T (p.Glu242Asp)
c.816G>T (p.Glu272Asp)
c.927G>T (p.Glu309Asp)
n.429-5610G>T
c.960G>T (p.Glu320Asp)
c.318G>T (p.Glu106Asp)
19g.40605765G>ACA405933900LTBP4c.727G>A (p.Val243Ile)
c.817G>A (p.Val273Ile)
c.928G>A (p.Val310Ile)
n.429-5609G>A
c.961G>A (p.Val321Ile)
c.319G>A (p.Val107Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.40605765G>CCA405933901LTBP4c.727G>C (p.Val243Leu)
c.817G>C (p.Val273Leu)
c.928G>C (p.Val310Leu)
n.429-5609G>C
c.961G>C (p.Val321Leu)
c.319G>C (p.Val107Leu)
19g.40605765G=CA2336060177LTBP4c.727G= (p.Val243=)
c.817G= (p.Val273=)
c.928G= (p.Val310=)
n.429-5609G=
c.961G= (p.Val321=)
c.319G= (p.Val107=)
19g.40605765G>TCA405933902LTBP4c.727G>T (p.Val243Phe)
c.817G>T (p.Val273Phe)
c.928G>T (p.Val310Phe)
n.429-5609G>T
c.961G>T (p.Val321Phe)
c.319G>T (p.Val107Phe)
 gnomAD v4
19g.40605766T>ACA405933905LTBP4c.728T>A (p.Val243Asp)
c.818T>A (p.Val273Asp)
c.929T>A (p.Val310Asp)
n.429-5608T>A
c.962T>A (p.Val321Asp)
c.320T>A (p.Val107Asp)
19g.40605766T>CCA405933906LTBP4c.728T>C (p.Val243Ala)
c.818T>C (p.Val273Ala)
c.929T>C (p.Val310Ala)
n.429-5608T>C
c.962T>C (p.Val321Ala)
c.320T>C (p.Val107Ala)
19g.40605766T>GCA405933908LTBP4c.728T>G (p.Val243Gly)
c.818T>G (p.Val273Gly)
c.929T>G (p.Val310Gly)
n.429-5608T>G
c.962T>G (p.Val321Gly)
c.320T>G (p.Val107Gly)
19g.40605767C>ACA507684471LTBP4c.729C>A (p.Val243=)
c.819C>A (p.Val273=)
c.930C>A (p.Val310=)
n.429-5607C>A
c.963C>A (p.Val321=)
c.321C>A (p.Val107=)
 gnomAD v4
19g.40605767C>GCA507684472LTBP4c.729C>G (p.Val243=)
c.819C>G (p.Val273=)
c.930C>G (p.Val310=)
n.429-5607C>G
c.963C>G (p.Val321=)
c.321C>G (p.Val107=)
19g.40605767C>TCA507684473LTBP4c.729C>T (p.Val243=)
c.819C>T (p.Val273=)
c.930C>T (p.Val310=)
n.429-5607C>T
c.963C>T (p.Val321=)
c.321C>T (p.Val107=)
19g.40605768T>ACA405933913LTBP4c.730T>A (p.Cys244Ser)
c.820T>A (p.Cys274Ser)
c.931T>A (p.Cys311Ser)
n.429-5606T>A
c.964T>A (p.Cys322Ser)
c.322T>A (p.Cys108Ser)
19g.40605768T>CCA405933911LTBP4c.730T>C (p.Cys244Arg)
c.820T>C (p.Cys274Arg)
c.931T>C (p.Cys311Arg)
n.429-5606T>C
c.964T>C (p.Cys322Arg)
c.322T>C (p.Cys108Arg)
19g.40605768T>GCA117509LTBP4c.730T>G (p.Cys244Gly)
c.820T>G (p.Cys274Gly)
c.931T>G (p.Cys311Gly)
n.429-5606T>G
c.964T>G (p.Cys322Gly)
c.322T>G (p.Cys108Gly)
 ClinVar dbSNP
19g.40605768T=CA2336060178LTBP4c.730T= (p.Cys244=)
c.820T= (p.Cys274=)
c.931T= (p.Cys311=)
n.429-5606T=
c.964T= (p.Cys322=)
c.322T= (p.Cys108=)
19g.40605769G>ACA405933916LTBP4c.731G>A (p.Cys244Tyr)
c.821G>A (p.Cys274Tyr)
c.932G>A (p.Cys311Tyr)
n.429-5605G>A
c.965G>A (p.Cys322Tyr)
c.323G>A (p.Cys108Tyr)
 gnomAD v4
19g.40605769G>CCA405933917LTBP4c.731G>C (p.Cys244Ser)
c.821G>C (p.Cys274Ser)
c.932G>C (p.Cys311Ser)
n.429-5605G>C
c.965G>C (p.Cys322Ser)
c.323G>C (p.Cys108Ser)
 gnomAD v4
19g.40605769G>TCA405933919LTBP4c.731G>T (p.Cys244Phe)
c.821G>T (p.Cys274Phe)
c.932G>T (p.Cys311Phe)
n.429-5605G>T
c.965G>T (p.Cys322Phe)
c.323G>T (p.Cys108Phe)
 gnomAD v4
19g.40605770C>ACA405933920LTBP4c.732C>A (p.Cys244Ter)
c.822C>A (p.Cys274Ter)
c.933C>A (p.Cys311Ter)
n.429-5604C>A
c.966C>A (p.Cys322Ter)
c.324C>A (p.Cys108Ter)
 gnomAD v4
19g.40605770C>GCA405933922LTBP4c.732C>G (p.Cys244Trp)
c.822C>G (p.Cys274Trp)
c.933C>G (p.Cys311Trp)
n.429-5604C>G
c.966C>G (p.Cys322Trp)
c.324C>G (p.Cys108Trp)
19g.40605770C>TCA507684477LTBP4c.732C>T (p.Cys244=)
c.822C>T (p.Cys274=)
c.933C>T (p.Cys311=)
n.429-5604C>T
c.966C>T (p.Cys322=)
c.324C>T (p.Cys108=)
 gnomAD v4
19g.40605771T>ACA405933923LTBP4c.733T>A (p.Cys245Ser)
c.823T>A (p.Cys275Ser)
c.934T>A (p.Cys312Ser)
n.429-5603T>A
c.967T>A (p.Cys323Ser)
c.325T>A (p.Cys109Ser)
19g.40605771T>CCA405933925LTBP4c.733T>C (p.Cys245Arg)
c.823T>C (p.Cys275Arg)
c.934T>C (p.Cys312Arg)
n.429-5603T>C
c.967T>C (p.Cys323Arg)
c.325T>C (p.Cys109Arg)
19g.40605771T>GCA405933927LTBP4c.733T>G (p.Cys245Gly)
c.823T>G (p.Cys275Gly)
c.934T>G (p.Cys312Gly)
n.429-5603T>G
c.967T>G (p.Cys323Gly)
c.325T>G (p.Cys109Gly)
19g.40605772G>ACA405933929LTBP4c.734G>A (p.Cys245Tyr)
c.824G>A (p.Cys275Tyr)
c.935G>A (p.Cys312Tyr)
n.429-5602G>A
c.968G>A (p.Cys323Tyr)
c.326G>A (p.Cys109Tyr)
19g.40605772G>CCA405933931LTBP4c.734G>C (p.Cys245Ser)
c.824G>C (p.Cys275Ser)
c.935G>C (p.Cys312Ser)
n.429-5602G>C
c.968G>C (p.Cys323Ser)
c.326G>C (p.Cys109Ser)
19g.40605772G>TCA405933934LTBP4c.734G>T (p.Cys245Phe)
c.824G>T (p.Cys275Phe)
c.935G>T (p.Cys312Phe)
n.429-5602G>T
c.968G>T (p.Cys323Phe)
c.326G>T (p.Cys109Phe)
 gnomAD v4
19g.40605773C>ACA405933936LTBP4c.735C>A (p.Cys245Ter)
c.825C>A (p.Cys275Ter)
c.936C>A (p.Cys312Ter)
n.429-5601C>A
c.969C>A (p.Cys323Ter)
c.327C>A (p.Cys109Ter)
19g.40605773C>GCA405933938LTBP4c.735C>G (p.Cys245Trp)
c.825C>G (p.Cys275Trp)
c.936C>G (p.Cys312Trp)
n.429-5601C>G
c.969C>G (p.Cys323Trp)
c.327C>G (p.Cys109Trp)
19g.40605773C>TCA507684478LTBP4c.735C>T (p.Cys245=)
c.825C>T (p.Cys275=)
c.936C>T (p.Cys312=)
n.429-5601C>T
c.969C>T (p.Cys323=)
c.327C>T (p.Cys109=)
 gnomAD v4
19g.40605774C>ACA9448096LTBP4c.736C>A (p.Arg246=)
c.826C>A (p.Arg276=)
c.937C>A (p.Arg313=)
n.429-5600C>A
c.970C>A (p.Arg324=)
c.328C>A (p.Arg110=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.40605774C=CA2336060179LTBP4c.736C= (p.Arg246=)
c.826C= (p.Arg276=)
c.937C= (p.Arg313=)
n.429-5600C=
c.970C= (p.Arg324=)
c.328C= (p.Arg110=)
19g.40605774C>GCA405933940LTBP4c.736C>G (p.Arg246Gly)
c.826C>G (p.Arg276Gly)
c.937C>G (p.Arg313Gly)
n.429-5600C>G
c.970C>G (p.Arg324Gly)
c.328C>G (p.Arg110Gly)
 dbSNP gnomAD v4
19g.40605774C>TCA405933942LTBP4c.736C>T (p.Arg246Ter)
c.826C>T (p.Arg276Ter)
c.937C>T (p.Arg313Ter)
n.429-5600C>T
c.970C>T (p.Arg324Ter)
c.328C>T (p.Arg110Ter)
19g.40605775G>ACA9448097LTBP4c.737G>A (p.Arg246Gln)
c.827G>A (p.Arg276Gln)
c.938G>A (p.Arg313Gln)
n.429-5599G>A
c.971G>A (p.Arg324Gln)
c.329G>A (p.Arg110Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.40605775G>CCA405933945LTBP4c.737G>C (p.Arg246Pro)
c.827G>C (p.Arg276Pro)
c.938G>C (p.Arg313Pro)
n.429-5599G>C
c.971G>C (p.Arg324Pro)
c.329G>C (p.Arg110Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.40605775G=CA2336060180LTBP4c.737G= (p.Arg246=)
c.827G= (p.Arg276=)
c.938G= (p.Arg313=)
n.429-5599G=
c.971G= (p.Arg324=)
c.329G= (p.Arg110=)
19g.40605775G>TCA405933947LTBP4c.737G>T (p.Arg246Leu)
c.827G>T (p.Arg276Leu)
c.938G>T (p.Arg313Leu)
n.429-5599G>T
c.971G>T (p.Arg324Leu)
c.329G>T (p.Arg110Leu)
 gnomAD v4
19g.40605776A>CCA507684479LTBP4c.738A>C (p.Arg246=)
c.828A>C (p.Arg276=)
c.939A>C (p.Arg313=)
n.429-5598A>C
c.972A>C (p.Arg324=)
c.330A>C (p.Arg110=)
19g.40605776A>GCA507684480LTBP4c.738A>G (p.Arg246=)
c.828A>G (p.Arg276=)
c.939A>G (p.Arg313=)
n.429-5598A>G
c.972A>G (p.Arg324=)
c.330A>G (p.Arg110=)
19g.40605776A>TCA507684481LTBP4c.738A>T (p.Arg246=)
c.828A>T (p.Arg276=)
c.939A>T (p.Arg313=)
n.429-5598A>T
c.972A>T (p.Arg324=)
c.330A>T (p.Arg110=)
19g.40605777G>ACA405933948LTBP4c.739G>A (p.Gly247Arg)
c.829G>A (p.Gly277Arg)
c.940G>A (p.Gly314Arg)
n.429-5597G>A
c.973G>A (p.Gly325Arg)
c.331G>A (p.Gly111Arg)
 dbSNP gnomAD v2 gnomAD v4
19g.40605777G>CCA405933950LTBP4c.739G>C (p.Gly247Arg)
c.829G>C (p.Gly277Arg)
c.940G>C (p.Gly314Arg)
n.429-5597G>C
c.973G>C (p.Gly325Arg)
c.331G>C (p.Gly111Arg)
19g.40605777G=CA2336060181LTBP4c.739G= (p.Gly247=)
c.829G= (p.Gly277=)
c.940G= (p.Gly314=)
n.429-5597G=
c.973G= (p.Gly325=)
c.331G= (p.Gly111=)
19g.40605777G>TCA405933952LTBP4c.739G>T (p.Gly247Trp)
c.829G>T (p.Gly277Trp)
c.940G>T (p.Gly314Trp)
n.429-5597G>T
c.973G>T (p.Gly325Trp)
c.331G>T (p.Gly111Trp)
 gnomAD v4
19g.40605780delCA2585156318LTBP4c.742del (p.Ala248ProfsTer23)
c.832del (p.Ala278ProfsTer23)
c.943del (p.Ala315ProfsTer23)
n.429-5594del
c.976del (p.Ala326ProfsTer23)
c.334del (p.Ala112ProfsTer23)
 gnomAD v4
19g.40605778G>ACA405933954LTBP4c.740G>A (p.Gly247Glu)
c.830G>A (p.Gly277Glu)
c.941G>A (p.Gly314Glu)
n.429-5596G>A
c.974G>A (p.Gly325Glu)
c.332G>A (p.Gly111Glu)
 gnomAD v4
19g.40605778G>CCA405933956LTBP4c.740G>C (p.Gly247Ala)
c.830G>C (p.Gly277Ala)
c.941G>C (p.Gly314Ala)
n.429-5596G>C
c.974G>C (p.Gly325Ala)
c.332G>C (p.Gly111Ala)
19g.40605778G>TCA405933957LTBP4c.740G>T (p.Gly247Val)
c.830G>T (p.Gly277Val)
c.941G>T (p.Gly314Val)
n.429-5596G>T
c.974G>T (p.Gly325Val)
c.332G>T (p.Gly111Val)
 gnomAD v4
19g.40605779G>ACA507684484LTBP4c.741G>A (p.Gly247=)
c.831G>A (p.Gly277=)
c.942G>A (p.Gly314=)
n.429-5595G>A
c.975G>A (p.Gly325=)
c.333G>A (p.Gly111=)
 gnomAD v4
19g.40605779G>CCA507684482LTBP4c.741G>C (p.Gly247=)
c.831G>C (p.Gly277=)
c.942G>C (p.Gly314=)
n.429-5595G>C
c.975G>C (p.Gly325=)
c.333G>C (p.Gly111=)
 gnomAD v4
19g.40605779G>TCA507684483LTBP4c.741G>T (p.Gly247=)
c.831G>T (p.Gly277=)
c.942G>T (p.Gly314=)
n.429-5595G>T
c.975G>T (p.Gly325=)
c.333G>T (p.Gly111=)
19g.40605780G>ACA405933959LTBP4c.742G>A (p.Ala248Thr)
c.832G>A (p.Ala278Thr)
c.943G>A (p.Ala315Thr)
n.429-5594G>A
c.976G>A (p.Ala326Thr)
c.334G>A (p.Ala112Thr)
 dbSNP gnomAD v4
19g.40605780G>CCA405933960LTBP4c.742G>C (p.Ala248Pro)
c.832G>C (p.Ala278Pro)
c.943G>C (p.Ala315Pro)
n.429-5594G>C
c.976G>C (p.Ala326Pro)
c.334G>C (p.Ala112Pro)
19g.40605780G=CA2336060182LTBP4c.742G= (p.Ala248=)
c.832G= (p.Ala278=)
c.943G= (p.Ala315=)
n.429-5594G=
c.976G= (p.Ala326=)
c.334G= (p.Ala112=)
19g.40605780G>TCA405933961LTBP4c.742G>T (p.Ala248Ser)
c.832G>T (p.Ala278Ser)
c.943G>T (p.Ala315Ser)
n.429-5594G>T
c.976G>T (p.Ala326Ser)
c.334G>T (p.Ala112Ser)
 gnomAD v4
19g.40605781C>ACA405933965LTBP4c.743C>A (p.Ala248Asp)
c.833C>A (p.Ala278Asp)
c.944C>A (p.Ala315Asp)
n.429-5593C>A
c.977C>A (p.Ala326Asp)
c.335C>A (p.Ala112Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.40605781C=CA2336060183LTBP4c.743C= (p.Ala248=)
c.833C= (p.Ala278=)
c.944C= (p.Ala315=)
n.429-5593C=
c.977C= (p.Ala326=)
c.335C= (p.Ala112=)
19g.40605781C>GCA405933963LTBP4c.743C>G (p.Ala248Gly)
c.833C>G (p.Ala278Gly)
c.944C>G (p.Ala315Gly)
n.429-5593C>G
c.977C>G (p.Ala326Gly)
c.335C>G (p.Ala112Gly)
19g.40605781C>TCA405933962LTBP4c.743C>T (p.Ala248Val)
c.833C>T (p.Ala278Val)
c.944C>T (p.Ala315Val)
n.429-5593C>T
c.977C>T (p.Ala326Val)
c.335C>T (p.Ala112Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched