| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227031949T>A | CA431663395 | COL4A4 | c.3813A>T (p.Pro1271=) c.3258A>T (p.Pro1086=) c.3732A>T (p.Pro1244=) c.3705A>T (p.Pro1235=) c.2139A>T (p.Pro713=) n.4123A>T c.3696A>T (p.Pro1232=) n.4139A>T | |
| 2 | g.227031949T>C | CA431663396 | COL4A4 | c.3813A>G (p.Pro1271=) c.3258A>G (p.Pro1086=) c.3732A>G (p.Pro1244=) c.3705A>G (p.Pro1235=) c.2139A>G (p.Pro713=) n.4123A>G c.3696A>G (p.Pro1232=) n.4139A>G | gnomAD v4 |
| 2 | g.227031949T>G | CA2144417 | COL4A4 | c.3813A>C (p.Pro1271=) c.3258A>C (p.Pro1086=) c.3732A>C (p.Pro1244=) c.3705A>C (p.Pro1235=) c.2139A>C (p.Pro713=) n.4123A>C c.3696A>C (p.Pro1232=) n.4139A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227031949T= | CA1139532105 | COL4A4 | c.3813A= (p.Pro1271=) c.3258A= (p.Pro1086=) c.3732A= (p.Pro1244=) c.3705A= (p.Pro1235=) c.2139A= (p.Pro713=) n.4123A= c.3696A= (p.Pro1232=) n.4139A= | |
| 2 | g.227031950G>A | CA350837501 | COL4A4 | c.3812C>T (p.Pro1271Leu) c.3257C>T (p.Pro1086Leu) c.3731C>T (p.Pro1244Leu) c.3704C>T (p.Pro1235Leu) c.2138C>T (p.Pro713Leu) n.4122C>T c.3695C>T (p.Pro1232Leu) n.4138C>T | |
| 2 | g.227031950G>C | CA350837502 | COL4A4 | c.3812C>G (p.Pro1271Arg) c.3257C>G (p.Pro1086Arg) c.3731C>G (p.Pro1244Arg) c.3704C>G (p.Pro1235Arg) c.2138C>G (p.Pro713Arg) n.4122C>G c.3695C>G (p.Pro1232Arg) n.4138C>G | |
| 2 | g.227031950G= | CA1332734717 | COL4A4 | c.3812C= (p.Pro1271=) c.3257C= (p.Pro1086=) c.3731C= (p.Pro1244=) c.3704C= (p.Pro1235=) c.2138C= (p.Pro713=) n.4122C= c.3695C= (p.Pro1232=) n.4138C= | |
| 2 | g.227031950G>T | CA2144418 | COL4A4 | c.3812C>A (p.Pro1271Gln) c.3257C>A (p.Pro1086Gln) c.3731C>A (p.Pro1244Gln) c.3704C>A (p.Pro1235Gln) c.2138C>A (p.Pro713Gln) n.4122C>A c.3695C>A (p.Pro1232Gln) n.4138C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227031952dup | CA1139771161 | COL4A4 | c.3812dup (p.Arg1272LysfsTer14) c.3257dup (p.Arg1087LysfsTer14) c.3731dup (p.Arg1245LysfsTer14) c.3704dup (p.Arg1236LysfsTer14) c.2138dup (p.Arg714LysfsTer14) n.4122dup c.3695dup (p.Arg1233LysfsTer14) n.4138dup | |
| 2 | g.227031951G>A | CA350837503 | COL4A4 | c.3811C>T (p.Pro1271Ser) c.3256C>T (p.Pro1086Ser) c.3730C>T (p.Pro1244Ser) c.3703C>T (p.Pro1235Ser) c.2137C>T (p.Pro713Ser) n.4121C>T c.3694C>T (p.Pro1232Ser) n.4137C>T | dbSNP |
| 2 | g.227031951G>C | CA350837504 | COL4A4 | c.3811C>G (p.Pro1271Ala) c.3256C>G (p.Pro1086Ala) c.3730C>G (p.Pro1244Ala) c.3703C>G (p.Pro1235Ala) c.2137C>G (p.Pro713Ala) n.4121C>G c.3694C>G (p.Pro1232Ala) n.4137C>G | |
| 2 | g.227031951G= | CA1332734718 | COL4A4 | c.3811C= (p.Pro1271=) c.3256C= (p.Pro1086=) c.3730C= (p.Pro1244=) c.3703C= (p.Pro1235=) c.2137C= (p.Pro713=) n.4121C= c.3694C= (p.Pro1232=) n.4137C= | |
| 2 | g.227031951G>T | CA350837505 | COL4A4 | c.3811C>A (p.Pro1271Thr) c.3256C>A (p.Pro1086Thr) c.3730C>A (p.Pro1244Thr) c.3703C>A (p.Pro1235Thr) c.2137C>A (p.Pro713Thr) n.4121C>A c.3694C>A (p.Pro1232Thr) n.4137C>A | gnomAD v4 |
| 2 | g.227031952G>A | CA431663405 | COL4A4 | c.3810C>T (p.Gly1270=) c.3255C>T (p.Gly1085=) c.3729C>T (p.Gly1243=) c.3702C>T (p.Gly1234=) c.2136C>T (p.Gly712=) n.4120C>T c.3693C>T (p.Gly1231=) n.4136C>T | |
| 2 | g.227031952G>C | CA431663406 | COL4A4 | c.3810C>G (p.Gly1270=) c.3255C>G (p.Gly1085=) c.3729C>G (p.Gly1243=) c.3702C>G (p.Gly1234=) c.2136C>G (p.Gly712=) n.4120C>G c.3693C>G (p.Gly1231=) n.4136C>G | |
| 2 | g.227031952G>T | CA431663407 | COL4A4 | c.3810C>A (p.Gly1270=) c.3255C>A (p.Gly1085=) c.3729C>A (p.Gly1243=) c.3702C>A (p.Gly1234=) c.2136C>A (p.Gly712=) n.4120C>A c.3693C>A (p.Gly1231=) n.4136C>A | gnomAD v4 |
| 2 | g.227031953C>A | CA350837506 | COL4A4 | c.3809G>T (p.Gly1270Val) c.3254G>T (p.Gly1085Val) c.3728G>T (p.Gly1243Val) c.3701G>T (p.Gly1234Val) c.2135G>T (p.Gly712Val) n.4119G>T c.3692G>T (p.Gly1231Val) n.4135G>T | |
| 2 | g.227031953C= | CA1332734719 | COL4A4 | c.3809G= (p.Gly1270=) c.3254G= (p.Gly1085=) c.3728G= (p.Gly1243=) c.3701G= (p.Gly1234=) c.2135G= (p.Gly712=) n.4119G= c.3692G= (p.Gly1231=) n.4135G= | |
| 2 | g.227031953C>G | CA350837507 | COL4A4 | c.3809G>C (p.Gly1270Ala) c.3254G>C (p.Gly1085Ala) c.3728G>C (p.Gly1243Ala) c.3701G>C (p.Gly1234Ala) c.2135G>C (p.Gly712Ala) n.4119G>C c.3692G>C (p.Gly1231Ala) n.4135G>C | |
| 2 | g.227031953C>T | CA350837508 | COL4A4 | c.3809G>A (p.Gly1270Asp) c.3254G>A (p.Gly1085Asp) c.3728G>A (p.Gly1243Asp) c.3701G>A (p.Gly1234Asp) c.2135G>A (p.Gly712Asp) n.4119G>A c.3692G>A (p.Gly1231Asp) n.4135G>A | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227031954C>A | CA350837509 | COL4A4 | c.3808G>T (p.Gly1270Cys) c.3253G>T (p.Gly1085Cys) c.3727G>T (p.Gly1243Cys) c.3700G>T (p.Gly1234Cys) c.2134G>T (p.Gly712Cys) n.4118G>T c.3691G>T (p.Gly1231Cys) n.4134G>T | |
| 2 | g.227031954C>G | CA350837511 | COL4A4 | c.3808G>C (p.Gly1270Arg) c.3253G>C (p.Gly1085Arg) c.3727G>C (p.Gly1243Arg) c.3700G>C (p.Gly1234Arg) c.2134G>C (p.Gly712Arg) n.4118G>C c.3691G>C (p.Gly1231Arg) n.4134G>C | |
| 2 | g.227031954C>T | CA350837510 | COL4A4 | c.3808G>A (p.Gly1270Ser) c.3253G>A (p.Gly1085Ser) c.3727G>A (p.Gly1243Ser) c.3700G>A (p.Gly1234Ser) c.2134G>A (p.Gly712Ser) n.4118G>A c.3691G>A (p.Gly1231Ser) n.4134G>A | |
| 2 | g.227031956_227031958del | CA2663406209 | COL4A4 | c.3806_3808del (p.Asp1269del) c.3251_3253del (p.Asp1084del) c.3725_3727del (p.Asp1242del) c.3698_3700del (p.Asp1233del) c.2132_2134del (p.Asp711del) n.4116_4118del c.3689_3691del (p.Asp1230del) n.4132_4134del | gnomAD v4 |
| 2 | g.227031955A>C | CA350837512 | COL4A4 | c.3807T>G (p.Asp1269Glu) c.3252T>G (p.Asp1084Glu) c.3726T>G (p.Asp1242Glu) c.3699T>G (p.Asp1233Glu) c.2133T>G (p.Asp711Glu) n.4117T>G c.3690T>G (p.Asp1230Glu) n.4133T>G | |
| 2 | g.227031955A>G | CA431663409 | COL4A4 | c.3807T>C (p.Asp1269=) c.3252T>C (p.Asp1084=) c.3726T>C (p.Asp1242=) c.3699T>C (p.Asp1233=) c.2133T>C (p.Asp711=) n.4117T>C c.3690T>C (p.Asp1230=) n.4133T>C | ClinVar gnomAD v4 |
| 2 | g.227031955A>T | CA350837513 | COL4A4 | c.3807T>A (p.Asp1269Glu) c.3252T>A (p.Asp1084Glu) c.3726T>A (p.Asp1242Glu) c.3699T>A (p.Asp1233Glu) c.2133T>A (p.Asp711Glu) n.4117T>A c.3690T>A (p.Asp1230Glu) n.4133T>A | |
| 2 | g.227031956T>A | CA350837514 | COL4A4 | c.3806A>T (p.Asp1269Val) c.3251A>T (p.Asp1084Val) c.3725A>T (p.Asp1242Val) c.3698A>T (p.Asp1233Val) c.2132A>T (p.Asp711Val) n.4116A>T c.3689A>T (p.Asp1230Val) n.4132A>T | |
| 2 | g.227031956T>C | CA66561515 | COL4A4 | c.3806A>G (p.Asp1269Gly) c.3251A>G (p.Asp1084Gly) c.3725A>G (p.Asp1242Gly) c.3698A>G (p.Asp1233Gly) c.2132A>G (p.Asp711Gly) n.4116A>G c.3689A>G (p.Asp1230Gly) n.4132A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227031956T>G | CA350837515 | COL4A4 | c.3806A>C (p.Asp1269Ala) c.3251A>C (p.Asp1084Ala) c.3725A>C (p.Asp1242Ala) c.3698A>C (p.Asp1233Ala) c.2132A>C (p.Asp711Ala) n.4116A>C c.3689A>C (p.Asp1230Ala) n.4132A>C | |
| 2 | g.227031956T= | CA1332734720 | COL4A4 | c.3806A= (p.Asp1269=) c.3251A= (p.Asp1084=) c.3725A= (p.Asp1242=) c.3698A= (p.Asp1233=) c.2132A= (p.Asp711=) n.4116A= c.3689A= (p.Asp1230=) n.4132A= | |
| 2 | g.227031956dup | CA2577263250 | COL4A4 | c.3806dup (p.Asp1269GlufsTer17) c.3251dup (p.Asp1084GlufsTer17) c.3725dup (p.Asp1242GlufsTer17) c.3698dup (p.Asp1233GlufsTer17) c.2132dup (p.Asp711GlufsTer17) n.4116dup c.3689dup (p.Asp1230GlufsTer17) n.4132dup | |
| 2 | g.227031957C>A | CA350837516 | COL4A4 | c.3805G>T (p.Asp1269Tyr) c.3250G>T (p.Asp1084Tyr) c.3724G>T (p.Asp1242Tyr) c.3697G>T (p.Asp1233Tyr) c.2131G>T (p.Asp711Tyr) n.4115G>T c.3688G>T (p.Asp1230Tyr) n.4131G>T | gnomAD v4 |
| 2 | g.227031957C= | CA1332734721 | COL4A4 | c.3805G= (p.Asp1269=) c.3250G= (p.Asp1084=) c.3724G= (p.Asp1242=) c.3697G= (p.Asp1233=) c.2131G= (p.Asp711=) n.4115G= c.3688G= (p.Asp1230=) n.4131G= | |
| 2 | g.227031957C>G | CA2144419 | COL4A4 | c.3805G>C (p.Asp1269His) c.3250G>C (p.Asp1084His) c.3724G>C (p.Asp1242His) c.3697G>C (p.Asp1233His) c.2131G>C (p.Asp711His) n.4115G>C c.3688G>C (p.Asp1230His) n.4131G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227031957C>T | CA350837517 | COL4A4 | c.3805G>A (p.Asp1269Asn) c.3250G>A (p.Asp1084Asn) c.3724G>A (p.Asp1242Asn) c.3697G>A (p.Asp1233Asn) c.2131G>A (p.Asp711Asn) n.4115G>A c.3688G>A (p.Asp1230Asn) n.4131G>A | gnomAD v4 |
| 2 | g.227031958A>C | CA431663413 | COL4A4 | c.3804T>G (p.Pro1268=) c.3249T>G (p.Pro1083=) c.3723T>G (p.Pro1241=) c.3696T>G (p.Pro1232=) c.2130T>G (p.Pro710=) n.4114T>G c.3687T>G (p.Pro1229=) n.4130T>G | |
| 2 | g.227031958A>G | CA431663414 | COL4A4 | c.3804T>C (p.Pro1268=) c.3249T>C (p.Pro1083=) c.3723T>C (p.Pro1241=) c.3696T>C (p.Pro1232=) c.2130T>C (p.Pro710=) n.4114T>C c.3687T>C (p.Pro1229=) n.4130T>C | |
| 2 | g.227031958A>T | CA431663415 | COL4A4 | c.3804T>A (p.Pro1268=) c.3249T>A (p.Pro1083=) c.3723T>A (p.Pro1241=) c.3696T>A (p.Pro1232=) c.2130T>A (p.Pro710=) n.4114T>A c.3687T>A (p.Pro1229=) n.4130T>A | |
| 2 | g.227031959G>A | CA350837520 | COL4A4 | c.3803C>T (p.Pro1268Leu) c.3248C>T (p.Pro1083Leu) c.3722C>T (p.Pro1241Leu) c.3695C>T (p.Pro1232Leu) c.2129C>T (p.Pro710Leu) n.4113C>T c.3686C>T (p.Pro1229Leu) n.4129C>T | |
| 2 | g.227031959G>C | CA350837519 | COL4A4 | c.3803C>G (p.Pro1268Arg) c.3248C>G (p.Pro1083Arg) c.3722C>G (p.Pro1241Arg) c.3695C>G (p.Pro1232Arg) c.2129C>G (p.Pro710Arg) n.4113C>G c.3686C>G (p.Pro1229Arg) n.4129C>G | |
| 2 | g.227031959G>T | CA350837518 | COL4A4 | c.3803C>A (p.Pro1268His) c.3248C>A (p.Pro1083His) c.3722C>A (p.Pro1241His) c.3695C>A (p.Pro1232His) c.2129C>A (p.Pro710His) n.4113C>A c.3686C>A (p.Pro1229His) n.4129C>A | COSMIC |
| 2 | g.227031960G>A | CA350837521 | COL4A4 | c.3802C>T (p.Pro1268Ser) c.3247C>T (p.Pro1083Ser) c.3721C>T (p.Pro1241Ser) c.3694C>T (p.Pro1232Ser) c.2128C>T (p.Pro710Ser) n.4112C>T c.3685C>T (p.Pro1229Ser) n.4128C>T | ClinVar gnomAD v4 |
| 2 | g.227031960G>C | CA350837522 | COL4A4 | c.3802C>G (p.Pro1268Ala) c.3247C>G (p.Pro1083Ala) c.3721C>G (p.Pro1241Ala) c.3694C>G (p.Pro1232Ala) c.2128C>G (p.Pro710Ala) n.4112C>G c.3685C>G (p.Pro1229Ala) n.4128C>G | |
| 2 | g.227031960G>T | CA350837523 | COL4A4 | c.3802C>A (p.Pro1268Thr) c.3247C>A (p.Pro1083Thr) c.3721C>A (p.Pro1241Thr) c.3694C>A (p.Pro1232Thr) c.2128C>A (p.Pro710Thr) n.4112C>A c.3685C>A (p.Pro1229Thr) n.4128C>A | gnomAD v4 |
| 2 | g.227031961A>C | CA431663417 | COL4A4 | c.3801T>G (p.Gly1267=) c.3246T>G (p.Gly1082=) c.3720T>G (p.Gly1240=) c.3693T>G (p.Gly1231=) c.2127T>G (p.Gly709=) n.4111T>G c.3684T>G (p.Gly1228=) n.4127T>G | |
| 2 | g.227031961A>G | CA431663418 | COL4A4 | c.3801T>C (p.Gly1267=) c.3246T>C (p.Gly1082=) c.3720T>C (p.Gly1240=) c.3693T>C (p.Gly1231=) c.2127T>C (p.Gly709=) n.4111T>C c.3684T>C (p.Gly1228=) n.4127T>C | |
| 2 | g.227031961A>T | CA431663420 | COL4A4 | c.3801T>A (p.Gly1267=) c.3246T>A (p.Gly1082=) c.3720T>A (p.Gly1240=) c.3693T>A (p.Gly1231=) c.2127T>A (p.Gly709=) n.4111T>A c.3684T>A (p.Gly1228=) n.4127T>A | gnomAD v4 |
| 2 | g.227031962C>A | CA350837524 | COL4A4 | c.3800G>T (p.Gly1267Val) c.3245G>T (p.Gly1082Val) c.3719G>T (p.Gly1240Val) c.3692G>T (p.Gly1231Val) c.2126G>T (p.Gly709Val) n.4110G>T c.3683G>T (p.Gly1228Val) n.4126G>T | |
| 2 | g.227031962C>G | CA350837525 | COL4A4 | c.3800G>C (p.Gly1267Ala) c.3245G>C (p.Gly1082Ala) c.3719G>C (p.Gly1240Ala) c.3692G>C (p.Gly1231Ala) c.2126G>C (p.Gly709Ala) n.4110G>C c.3683G>C (p.Gly1228Ala) n.4126G>C | gnomAD v4 |