Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.40605675G>C | CA2585156282 | LTBP4 | c.690+23G>C (n.690+23G>C) c.780+23G>C (n.780+23G>C) c.891+23G>C (n.891+23G>C) n.428+5572G>C c.924+23G>C (n.924+23G>C) c.282+23G>C (n.282+23G>C) | gnomAD v4 |
19 | g.40605675G>T | CA2585156283 | LTBP4 | c.690+23G>T (n.690+23G>T) c.780+23G>T (n.780+23G>T) c.891+23G>T (n.891+23G>T) n.428+5572G>T c.924+23G>T (n.924+23G>T) c.282+23G>T (n.282+23G>T) | gnomAD v4 |
19 | g.40605676G>A | CA2585156284 | LTBP4 | c.690+24G>A (n.690+24G>A) c.780+24G>A (n.780+24G>A) c.891+24G>A (n.891+24G>A) n.428+5573G>A c.924+24G>A (n.924+24G>A) c.282+24G>A (n.282+24G>A) | gnomAD v4 |
19 | g.40605676G>C | CA2585156285 | LTBP4 | c.690+24G>C (n.690+24G>C) c.780+24G>C (n.780+24G>C) c.891+24G>C (n.891+24G>C) n.428+5573G>C c.924+24G>C (n.924+24G>C) c.282+24G>C (n.282+24G>C) | gnomAD v4 |
19 | g.40605677G>A | CA633466922 | LTBP4 | c.690+25G>A (n.690+25G>A) c.780+25G>A (n.780+25G>A) c.891+25G>A (n.891+25G>A) n.428+5574G>A c.924+25G>A (n.924+25G>A) c.282+25G>A (n.282+25G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605677G>C | CA995924656 | LTBP4 | c.690+25G>C (n.690+25G>C) c.780+25G>C (n.780+25G>C) c.891+25G>C (n.891+25G>C) n.428+5574G>C c.924+25G>C (n.924+25G>C) c.282+25G>C (n.282+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.40605677G= | CA2336060125 | LTBP4 | c.690+25G= (n.690+25G=) c.780+25G= (n.780+25G=) c.891+25G= (n.891+25G=) n.428+5574G= c.924+25G= (n.924+25G=) c.282+25G= (n.282+25G=) | |
19 | g.40605677G>T | CA633466923 | LTBP4 | c.690+25G>T (n.690+25G>T) c.780+25G>T (n.780+25G>T) c.891+25G>T (n.891+25G>T) n.428+5574G>T c.924+25G>T (n.924+25G>T) c.282+25G>T (n.282+25G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605678C>A | CA2576787754 | LTBP4 | c.690+26C>A (n.690+26C>A) c.780+26C>A (n.780+26C>A) c.891+26C>A (n.891+26C>A) n.428+5575C>A c.924+26C>A (n.924+26C>A) c.282+26C>A (n.282+26C>A) | |
19 | g.40605678C= | CA2336060126 | LTBP4 | c.690+26C= (n.690+26C=) c.780+26C= (n.780+26C=) c.891+26C= (n.891+26C=) n.428+5575C= c.924+26C= (n.924+26C=) c.282+26C= (n.282+26C=) | |
19 | g.40605678C>T | CA633466924 | LTBP4 | c.690+26C>T (n.690+26C>T) c.780+26C>T (n.780+26C>T) c.891+26C>T (n.891+26C>T) n.428+5575C>T c.924+26C>T (n.924+26C>T) c.282+26C>T (n.282+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.40605679C>A | CA2585156287 | LTBP4 | c.690+27C>A (n.690+27C>A) c.780+27C>A (n.780+27C>A) c.891+27C>A (n.891+27C>A) n.428+5576C>A c.924+27C>A (n.924+27C>A) c.282+27C>A (n.282+27C>A) | gnomAD v4 |
19 | g.40605679C>G | CA2585156286 | LTBP4 | c.690+27C>G (n.690+27C>G) c.780+27C>G (n.780+27C>G) c.891+27C>G (n.891+27C>G) n.428+5576C>G c.924+27C>G (n.924+27C>G) c.282+27C>G (n.282+27C>G) | gnomAD v4 |
19 | g.40605680C>A | CA2585156288 | LTBP4 | c.690+28C>A (n.690+28C>A) c.780+28C>A (n.780+28C>A) c.891+28C>A (n.891+28C>A) n.428+5577C>A c.924+28C>A (n.924+28C>A) c.282+28C>A (n.282+28C>A) | gnomAD v4 |
19 | g.40605680C= | CA2336060127 | LTBP4 | c.690+28C= (n.690+28C=) c.780+28C= (n.780+28C=) c.891+28C= (n.891+28C=) n.428+5577C= c.924+28C= (n.924+28C=) c.282+28C= (n.282+28C=) | |
19 | g.40605680C>T | CA9448089 | LTBP4 | c.690+28C>T (n.690+28C>T) c.780+28C>T (n.780+28C>T) c.891+28C>T (n.891+28C>T) n.428+5577C>T c.924+28C>T (n.924+28C>T) c.282+28C>T (n.282+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.40605681G>A | CA2585156289 | LTBP4 | c.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 |
19 | g.40605681G>C | CA2576787755 | LTBP4 | c.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) | |
19 | g.40605684G>A | CA2736065292 | LTBP4 | c.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 |
19 | g.40605684G>T | CA2585156290 | LTBP4 | c.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 |
19 | g.40605685C>A | CA2585156291 | LTBP4 | c.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 |
19 | g.40605685C>T | CA2585156292 | LTBP4 | c.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 |
19 | g.40605686T>A | CA2576787756 | LTBP4 | c.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) | |
19 | g.40605686T>G | CA2576787757 | LTBP4 | c.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) | |
19 | g.40605687T>A | CA2576787758 | LTBP4 | c.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) | |
19 | g.40605687T>C | CA882257932 | LTBP4 | c.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 |
19 | g.40605687T>G | CA2585156293 | LTBP4 | c.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 |
19 | g.40605687T= | CA2336060128 | LTBP4 | c.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=) | |
19 | g.40605688G>A | CA2585156294 | LTBP4 | c.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 |
19 | g.40605688G= | CA2336060129 | LTBP4 | c.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=) | |
19 | g.40605688G>T | CA633466925 | LTBP4 | c.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 |
19 | g.40605689C>A | CA2585156295 | LTBP4 | c.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 |
19 | g.40605689C>T | CA2585156296 | LTBP4 | c.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 |
19 | g.40605690C>A | CA2585156297 | LTBP4 | c.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 |
19 | g.40605691T>A | CA2576787759 | LTBP4 | c.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) | |
19 | g.40605691T>C | CA9448090 | LTBP4 | c.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 |
19 | g.40605691T>G | CA882257934 | LTBP4 | c.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 |
19 | g.40605691T= | CA2336060130 | LTBP4 | c.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=) | |
19 | g.40605692C>A | CA2585156298 | LTBP4 | c.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 |
19 | g.40605693C>A | CA2585156299 | LTBP4 | c.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 |
19 | g.40605693C= | CA2336060131 | LTBP4 | c.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=) | |
19 | g.40605693C>T | CA633466926 | LTBP4 | c.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 |
19 | g.40605694G>A | CA2585156300 | LTBP4 | c.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 |
19 | g.40605694G>T | CA2585156301 | LTBP4 | c.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 |
19 | g.40605695C>A | CA633466927 | LTBP4 | c.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 |
19 | g.40605695C= | CA2336060132 | LTBP4 | c.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=) | |
19 | g.40605695C>T | CA633466928 | LTBP4 | c.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 |
19 | g.40605696G>A | CA2576787760 | LTBP4 | c.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) | |
19 | g.40605696G>C | CA2336060135 | LTBP4 | c.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 |
19 | g.40605696G= | CA2336060134 | LTBP4 | c.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=) | |
19 | g.40605696G>T | CA2585156302 | LTBP4 | c.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 |
19 | g.40605696_40605697delinsGC | CA2336060133 | LTBP4 | c.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) | |
19 | g.40605697del | CA882257938 | LTBP4 | c.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 |
19 | g.40605697C>A | CA882257937 | LTBP4 | c.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 |
19 | g.40605697C= | CA2336060136 | LTBP4 | c.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=) | |
19 | g.40605697C>T | CA633466929 | LTBP4 | c.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 |
19 | g.40605698G>C | CA2585156305 | LTBP4 | c.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 |
19 | g.40605698G>T | CA2585156306 | LTBP4 | c.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 |
19 | g.40605702dup | CA2585156303 | LTBP4 | c.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 |
19 | g.40605702del | CA2585156304 | LTBP4 | c.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 |
19 | g.40605699G>A | CA2585156307 | LTBP4 | c.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 |
19 | g.40605700G>A | CA633466930 | LTBP4 | c.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 |
19 | g.40605700G= | CA2336060137 | LTBP4 | c.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=) | |
19 | g.40605700G>T | CA2585156308 | LTBP4 | c.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 |
19 | g.40605701G>A | CA2576787761 | LTBP4 | c.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 |
19 | g.40605702G>A | CA308447862 | LTBP4 | c.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 |
19 | g.40605702G>C | CA2336060139 | LTBP4 | c.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 |
19 | g.40605702G= | CA2336060138 | LTBP4 | c.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=) | |
19 | g.40605702G>T | CA2585156309 | LTBP4 | c.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 |
19 | g.40605703C>A | CA2336060141 | LTBP4 | c.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 |
19 | g.40605703C= | CA2336060140 | LTBP4 | c.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=) | |
19 | g.40605703C>T | CA2585156310 | LTBP4 | c.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 |
19 | g.40605704G>A | CA633466931 | LTBP4 | c.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 |
19 | g.40605704G= | CA2336060142 | LTBP4 | c.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=) | |
19 | g.40605705C>A | CA9448091 | LTBP4 | c.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 |
19 | g.40605705C= | CA2336060143 | LTBP4 | c.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=) | |
19 | g.40605705C>G | CA2336060144 | LTBP4 | c.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 |
19 | g.40605705C>T | CA308447866 | LTBP4 | c.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 |
19 | g.40605706G>A | CA2585156311 | LTBP4 | c.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 |
19 | g.40605706G>C | CA2585156312 | LTBP4 | c.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 |
19 | g.40605708T>A | CA2336060146 | LTBP4 | c.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 |
19 | g.40605708T= | CA2336060145 | LTBP4 | c.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=) | |
19 | g.40605709C>A | CA2336060148 | LTBP4 | c.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 |
19 | g.40605709C= | CA2336060147 | LTBP4 | c.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=) | |
19 | g.40605709C>T | CA995924661 | LTBP4 | c.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 |
19 | g.40605711C= | CA2336060149 | LTBP4 | c.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=) | |
19 | g.40605711C>T | CA308447870 | LTBP4 | c.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 |
19 | g.40605712C= | CA2336060150 | LTBP4 | c.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=) | |
19 | g.40605712C>G | CA9448092 | LTBP4 | c.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 |
19 | g.40605714A>T | CA2576787762 | LTBP4 | c.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) | |
19 | g.40605717A= | CA2336060151 | LTBP4 | c.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=) | |
19 | g.40605717A>C | CA2336060152 | LTBP4 | c.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 |
19 | g.40605718C>G | CA2585156313 | LTBP4 | c.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 |
19 | g.40605719T>A | CA633466932 | LTBP4 | c.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 |
19 | g.40605719T>G | CA2546369607 | LTBP4 | c.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) | |
19 | g.40605719T= | CA2336060153 | LTBP4 | c.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=) | |
19 | g.40605721C>A | CA995924670 | LTBP4 | c.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 |
19 | g.40605721C= | CA2336060154 | LTBP4 | c.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=) | |
19 | g.40605721C>T | CA2585156314 | LTBP4 | c.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 |
19 | g.40605722C= | CA2336060155 | LTBP4 | c.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=) | |
19 | g.40605722C>T | CA9448093 | LTBP4 | c.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 |
19 | g.40605723C>T | CA2585156315 | LTBP4 | c.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 |
19 | g.40605724C= | CA2336060156 | LTBP4 | c.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=) | |
19 | g.40605724C>G | CA995924675 | LTBP4 | c.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 |
19 | g.40605724C>T | CA995924676 | LTBP4 | c.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 |
19 | g.40605725G>A | CA2576787763 | LTBP4 | c.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) | |
19 | g.40605725G= | CA2336060157 | LTBP4 | c.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=) | |
19 | g.40605725G>T | CA633466933 | LTBP4 | c.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 |
19 | g.40605726C>T | CA2585156316 | LTBP4 | c.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 |
19 | g.40605727A>C | CA405933761 | LTBP4 | c.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) | |
19 | g.40605727A>G | CA405933765 | LTBP4 | c.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) | |
19 | g.40605727A>T | CA405933762 | LTBP4 | c.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) | |
19 | g.40605728G>A | CA405933767 | LTBP4 | c.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) | |
19 | g.40605728G>C | CA405933769 | LTBP4 | c.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) | |
19 | g.40605728G>T | CA405933768 | LTBP4 | c.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) | |
19 | g.40605729T>A | CA405933771 | LTBP4 | c.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 |
19 | g.40605729T>C | CA405933772 | LTBP4 | c.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 |
19 | g.40605729T>G | CA405933773 | LTBP4 | c.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) | |
19 | g.40605730G>A | CA405933776 | LTBP4 | c.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 |
19 | g.40605730G>C | CA405933777 | LTBP4 | c.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) | |
19 | g.40605730G= | CA2336060158 | LTBP4 | c.692G= (p.Cys231=) c.782G= (p.Cys261=) c.893G= (p.Cys298=) n.428+5627G= c.926G= (p.Cys309=) c.284G= (p.Cys95=) | |
19 | g.40605730G>T | CA405933779 | LTBP4 | c.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) | |
19 | g.40605731C>A | CA405933781 | LTBP4 | c.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) | |
19 | g.40605731C>G | CA405933783 | LTBP4 | c.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) | |
19 | g.40605731C>T | CA507684632 | LTBP4 | c.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 |
19 | g.40605732G>A | CA405933784 | LTBP4 | c.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) | |
19 | g.40605732G>C | CA405933786 | LTBP4 | c.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) | |
19 | g.40605732G>T | CA405933787 | LTBP4 | c.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 |
19 | g.40605733C>A | CA405933793 | LTBP4 | c.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) | |
19 | g.40605733C= | CA2336060159 | LTBP4 | c.695C= (p.Ala232=) c.785C= (p.Ala262=) c.896C= (p.Ala299=) n.428+5630C= c.929C= (p.Ala310=) c.287C= (p.Ala96=) | |
19 | g.40605733C>G | CA405933789 | LTBP4 | c.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) | |
19 | g.40605733C>T | CA405933791 | LTBP4 | c.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 |
19 | g.40605734G>A | CA507684633 | LTBP4 | c.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=) | |
19 | g.40605734G>C | CA507684634 | LTBP4 | c.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=) | |
19 | g.40605734G>T | CA507684635 | LTBP4 | c.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 |
19 | g.40605735T>A | CA405933796 | LTBP4 | c.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 |
19 | g.40605735T>C | CA405933797 | LTBP4 | c.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) | |
19 | g.40605735T>G | CA405933799 | LTBP4 | c.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) | |
19 | g.40605735T= | CA2336060161 | LTBP4 | c.697T= (p.Ser233=) c.787T= (p.Ser263=) c.898T= (p.Ser300=) n.428+5632T= c.931T= (p.Ser311=) c.289T= (p.Ser97=) | |
19 | g.40605735_40605736delinsTC | CA2336060160 | LTBP4 | c.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=) | |
19 | g.40605736C>A | CA405933801 | LTBP4 | c.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) | |
19 | g.40605736C= | CA2336060162 | LTBP4 | c.698C= (p.Ser233=) c.788C= (p.Ser263=) c.899C= (p.Ser300=) n.428+5633C= c.932C= (p.Ser311=) c.290C= (p.Ser97=) | |
19 | g.40605736C>G | CA405933803 | LTBP4 | c.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) | |
19 | g.40605736C>T | CA10642834 | LTBP4 | c.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 |
19 | g.40605739del | CA212832 | LTBP4 | c.701del (p.Pro234ArgfsTer?) c.791del (p.Pro264ArgfsTer?) c.902del (p.Pro301ArgfsTer?) n.429-5635del c.935del (p.Pro312ArgfsTer?) c.293del (p.Pro98ArgfsTer?) | ClinVar dbSNP |
19 | g.40605737C>A | CA507684636 | LTBP4 | c.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=) | |
19 | g.40605737C>G | CA507684637 | LTBP4 | c.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=) | |
19 | g.40605737C>T | CA507684638 | LTBP4 | c.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=) | |
19 | g.40605738C>A | CA405933806 | LTBP4 | c.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 |
19 | g.40605738C>G | CA405933808 | LTBP4 | c.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) | |
19 | g.40605738C>T | CA405933810 | LTBP4 | c.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 |
19 | g.40605739C>A | CA405933814 | LTBP4 | c.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 |
19 | g.40605739C>G | CA405933815 | LTBP4 | c.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) | |
19 | g.40605739C>T | CA405933812 | LTBP4 | c.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 |
19 | g.40605740G>A | CA507684639 | LTBP4 | c.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 |
19 | g.40605740G>C | CA507684640 | LTBP4 | c.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=) | |
19 | g.40605740G>T | CA507684641 | LTBP4 | c.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 |
19 | g.40605746_40605774del | CA2585156317 | LTBP4 | c.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 |
19 | g.40605741C>A | CA308447880 | LTBP4 | c.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 |
19 | g.40605741C= | CA2336060163 | LTBP4 | c.703C= (p.Leu235=) c.793C= (p.Leu265=) c.904C= (p.Leu302=) n.429-5633C= c.937C= (p.Leu313=) c.295C= (p.Leu99=) | |
19 | g.40605741C>G | CA405933818 | LTBP4 | c.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) | |
19 | g.40605741C>T | CA507684642 | LTBP4 | c.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=) | |
19 | g.40605742T>A | CA405933820 | LTBP4 | c.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) | |
19 | g.40605742T>C | CA405933822 | LTBP4 | c.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) | |
19 | g.40605742T>G | CA405933823 | LTBP4 | c.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) | |
19 | g.40605743G>A | CA507684643 | LTBP4 | c.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 |
19 | g.40605743G>C | CA507684645 | LTBP4 | c.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 |
19 | g.40605743G>T | CA507684644 | LTBP4 | c.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 |
19 | g.40605744C>A | CA405933825 | LTBP4 | c.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 |
19 | g.40605744C= | CA2336060164 | LTBP4 | c.706C= (p.Pro236=) c.796C= (p.Pro266=) c.907C= (p.Pro303=) n.429-5630C= c.940C= (p.Pro314=) c.298C= (p.Pro100=) | |
19 | g.40605744C>G | CA405933827 | LTBP4 | c.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) | |
19 | g.40605744C>T | CA308447883 | LTBP4 | c.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 |
19 | g.40605745C>A | CA405933830 | LTBP4 | c.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) | |
19 | g.40605745C>G | CA405933831 | LTBP4 | c.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) | |
19 | g.40605745C>T | CA405933833 | LTBP4 | c.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) | |
19 | g.40605746C>A | CA9448094 | LTBP4 | c.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 |
19 | g.40605746C= | CA2336060165 | LTBP4 | c.708C= (p.Pro236=) c.798C= (p.Pro266=) c.909C= (p.Pro303=) n.429-5628C= c.942C= (p.Pro314=) c.300C= (p.Pro100=) | |
19 | g.40605746C>G | CA507684431 | LTBP4 | c.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 |
19 | g.40605746C>T | CA507684432 | LTBP4 | c.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 |
19 | g.40605747G>A | CA405933837 | LTBP4 | c.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 |
19 | g.40605747G>C | CA405933840 | LTBP4 | c.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) | |
19 | g.40605747G= | CA2336060166 | LTBP4 | c.709G= (p.Gly237=) c.799G= (p.Gly267=) c.910G= (p.Gly304=) n.429-5627G= c.943G= (p.Gly315=) c.301G= (p.Gly101=) | |
19 | g.40605747G>T | CA405933838 | LTBP4 | c.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 |
19 | g.40605748G>A | CA405933842 | LTBP4 | c.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) | |
19 | g.40605748G>C | CA405933844 | LTBP4 | c.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) | |
19 | g.40605748G= | CA2336060167 | LTBP4 | c.710G= (p.Gly237=) c.800G= (p.Gly267=) c.911G= (p.Gly304=) n.429-5626G= c.944G= (p.Gly315=) c.302G= (p.Gly101=) | |
19 | g.40605748G>T | CA308447888 | LTBP4 | c.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 |
19 | g.40605749G>A | CA507684434 | LTBP4 | c.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=) | |
19 | g.40605749G>C | CA507684438 | LTBP4 | c.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=) | |
19 | g.40605749G= | CA2336060168 | LTBP4 | c.711G= (p.Gly237=) c.801G= (p.Gly267=) c.912G= (p.Gly304=) n.429-5625G= c.945G= (p.Gly315=) c.303G= (p.Gly101=) | |
19 | g.40605749G>T | CA507684436 | LTBP4 | c.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 |
19 | g.40605750C>A | CA405933846 | LTBP4 | c.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) | |
19 | g.40605750C= | CA2336060169 | LTBP4 | c.712C= (p.Leu238=) c.802C= (p.Leu268=) c.913C= (p.Leu305=) n.429-5624C= c.946C= (p.Leu316=) c.304C= (p.Leu102=) | |
19 | g.40605750C>G | CA405933847 | LTBP4 | c.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) | |
19 | g.40605750C>T | CA9448095 | LTBP4 | c.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 |
19 | g.40605751T>A | CA405933850 | LTBP4 | c.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) | |
19 | g.40605751T>C | CA405933851 | LTBP4 | c.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 |
19 | g.40605751T>G | CA405933853 | LTBP4 | c.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) | |
19 | g.40605752C>A | CA507684442 | LTBP4 | c.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=) | |
19 | g.40605752C>G | CA507684443 | LTBP4 | c.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=) | |
19 | g.40605752C>T | CA507684444 | LTBP4 | c.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 |
19 | g.40605753C>A | CA507684445 | LTBP4 | c.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=) | |
19 | g.40605753C= | CA2336060170 | LTBP4 | c.715C= (p.Arg239=) c.805C= (p.Arg269=) c.916C= (p.Arg306=) n.429-5621C= c.949C= (p.Arg317=) c.307C= (p.Arg103=) | |
19 | g.40605753C>G | CA405933855 | LTBP4 | c.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) | |
19 | g.40605753C>T | CA405933857 | LTBP4 | c.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 |
19 | g.40605754G>A | CA405933861 | LTBP4 | c.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 |
19 | g.40605754G>C | CA405933863 | LTBP4 | c.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 |
19 | g.40605754G= | CA2336060171 | LTBP4 | c.716G= (p.Arg239=) c.806G= (p.Arg269=) c.917G= (p.Arg306=) n.429-5620G= c.950G= (p.Arg317=) c.308G= (p.Arg103=) | |
19 | g.40605754G>T | CA405933859 | LTBP4 | c.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 |
19 | g.40605755G>A | CA507684447 | LTBP4 | c.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=) | |
19 | g.40605755G>C | CA507684448 | LTBP4 | c.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=) | |
19 | g.40605755G>T | CA507684449 | LTBP4 | c.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 |
19 | g.40605756A>C | CA405933868 | LTBP4 | c.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) | |
19 | g.40605756A>G | CA405933865 | LTBP4 | c.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 |
19 | g.40605756A>T | CA405933866 | LTBP4 | c.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) | |
19 | g.40605757del | CA2736065301 | LTBP4 | c.719del (p.Thr240SerfsTer?) c.809del (p.Thr270SerfsTer?) c.920del (p.Thr307SerfsTer?) n.429-5617del c.953del (p.Thr318SerfsTer?) c.311del (p.Thr104SerfsTer?) | dbSNP |
19 | g.40605757C>A | CA405933869 | LTBP4 | c.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 |
19 | g.40605757C= | CA2336060172 | LTBP4 | c.719C= (p.Thr240=) c.809C= (p.Thr270=) c.920C= (p.Thr307=) n.429-5617C= c.953C= (p.Thr318=) c.311C= (p.Thr104=) | |
19 | g.40605757C>G | CA405933870 | LTBP4 | c.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) | |
19 | g.40605757C>T | CA405933871 | LTBP4 | c.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 |
19 | g.40605758G>A | CA507684454 | LTBP4 | c.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 |
19 | g.40605758G>C | CA507684453 | LTBP4 | c.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=) | |
19 | g.40605758G= | CA2336060173 | LTBP4 | c.720G= (p.Thr240=) c.810G= (p.Thr270=) c.921G= (p.Thr307=) n.429-5616G= c.954G= (p.Thr318=) c.312G= (p.Thr104=) | |
19 | g.40605758G>T | CA308447891 | LTBP4 | c.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 |
19 | g.40605759C>A | CA405933878 | LTBP4 | c.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 |
19 | g.40605759C>G | CA405933874 | LTBP4 | c.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 |
19 | g.40605759C>T | CA405933876 | LTBP4 | c.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) | |
19 | g.40605760A= | CA2336060174 | LTBP4 | c.722A= (p.Gln241=) c.812A= (p.Gln271=) c.923A= (p.Gln308=) n.429-5614A= c.956A= (p.Gln319=) c.314A= (p.Gln105=) | |
19 | g.40605760A>C | CA405933879 | LTBP4 | c.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) | |
19 | g.40605760A>G | CA405933881 | LTBP4 | c.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 |
19 | g.40605760A>T | CA405933882 | LTBP4 | c.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 |
19 | g.40605761G>A | CA507684466 | LTBP4 | c.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=) | |
19 | g.40605761G>C | CA405933883 | LTBP4 | c.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) | |
19 | g.40605761G= | CA2336060175 | LTBP4 | c.723G= (p.Gln241=) c.813G= (p.Gln271=) c.924G= (p.Gln308=) n.429-5613G= c.957G= (p.Gln319=) c.315G= (p.Gln105=) | |
19 | g.40605761G>T | CA405933884 | LTBP4 | c.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 |
19 | g.40605762G>A | CA405933886 | LTBP4 | c.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 |
19 | g.40605762G>C | CA405933889 | LTBP4 | c.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) | |
19 | g.40605762G>T | CA405933887 | LTBP4 | c.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 |
19 | g.40605763A>C | CA405933890 | LTBP4 | c.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) | |
19 | g.40605763A>G | CA405933892 | LTBP4 | c.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 |
19 | g.40605763A>T | CA405933894 | LTBP4 | c.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 |
19 | g.40605764G>A | CA507684470 | LTBP4 | c.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 |
19 | g.40605764G>C | CA405933895 | LTBP4 | c.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) | |
19 | g.40605764G= | CA2336060176 | LTBP4 | c.726G= (p.Glu242=) c.816G= (p.Glu272=) c.927G= (p.Glu309=) n.429-5610G= c.960G= (p.Glu320=) c.318G= (p.Glu106=) | |
19 | g.40605764G>T | CA405933897 | LTBP4 | c.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) | |
19 | g.40605765G>A | CA405933900 | LTBP4 | c.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 |
19 | g.40605765G>C | CA405933901 | LTBP4 | c.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) | |
19 | g.40605765G= | CA2336060177 | LTBP4 | c.727G= (p.Val243=) c.817G= (p.Val273=) c.928G= (p.Val310=) n.429-5609G= c.961G= (p.Val321=) c.319G= (p.Val107=) | |
19 | g.40605765G>T | CA405933902 | LTBP4 | c.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 |
19 | g.40605766T>A | CA405933905 | LTBP4 | c.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) | |
19 | g.40605766T>C | CA405933906 | LTBP4 | c.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) | |
19 | g.40605766T>G | CA405933908 | LTBP4 | c.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) | |
19 | g.40605767C>A | CA507684471 | LTBP4 | c.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 |
19 | g.40605767C>G | CA507684472 | LTBP4 | c.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=) | |
19 | g.40605767C>T | CA507684473 | LTBP4 | c.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=) | |
19 | g.40605768T>A | CA405933913 | LTBP4 | c.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) | |
19 | g.40605768T>C | CA405933911 | LTBP4 | c.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) | |
19 | g.40605768T>G | CA117509 | LTBP4 | c.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 |
19 | g.40605768T= | CA2336060178 | LTBP4 | c.730T= (p.Cys244=) c.820T= (p.Cys274=) c.931T= (p.Cys311=) n.429-5606T= c.964T= (p.Cys322=) c.322T= (p.Cys108=) | |
19 | g.40605769G>A | CA405933916 | LTBP4 | c.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 |
19 | g.40605769G>C | CA405933917 | LTBP4 | c.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 |
19 | g.40605769G>T | CA405933919 | LTBP4 | c.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 |
19 | g.40605770C>A | CA405933920 | LTBP4 | c.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 |
19 | g.40605770C>G | CA405933922 | LTBP4 | c.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) | |
19 | g.40605770C>T | CA507684477 | LTBP4 | c.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 |
19 | g.40605771T>A | CA405933923 | LTBP4 | c.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) | |
19 | g.40605771T>C | CA405933925 | LTBP4 | c.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) | |
19 | g.40605771T>G | CA405933927 | LTBP4 | c.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) | |
19 | g.40605772G>A | CA405933929 | LTBP4 | c.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) | |
19 | g.40605772G>C | CA405933931 | LTBP4 | c.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) | |
19 | g.40605772G>T | CA405933934 | LTBP4 | c.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 |
19 | g.40605773C>A | CA405933936 | LTBP4 | c.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) | |
19 | g.40605773C>G | CA405933938 | LTBP4 | c.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) | |
19 | g.40605773C>T | CA507684478 | LTBP4 | c.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 |
19 | g.40605774C>A | CA9448096 | LTBP4 | c.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 |
19 | g.40605774C= | CA2336060179 | LTBP4 | c.736C= (p.Arg246=) c.826C= (p.Arg276=) c.937C= (p.Arg313=) n.429-5600C= c.970C= (p.Arg324=) c.328C= (p.Arg110=) | |
19 | g.40605774C>G | CA405933940 | LTBP4 | c.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 |
19 | g.40605774C>T | CA405933942 | LTBP4 | c.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) | |
19 | g.40605775G>A | CA9448097 | LTBP4 | c.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 |
19 | g.40605775G>C | CA405933945 | LTBP4 | c.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 |
19 | g.40605775G= | CA2336060180 | LTBP4 | c.737G= (p.Arg246=) c.827G= (p.Arg276=) c.938G= (p.Arg313=) n.429-5599G= c.971G= (p.Arg324=) c.329G= (p.Arg110=) | |
19 | g.40605775G>T | CA405933947 | LTBP4 | c.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 |