| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108681823_108681827delinsCAGGA | CA2450717230 | COL4A5 | c.4151_4155delinsCAGGA (p.Pro1384=) c.4133_4137delinsCAGGA (p.Pro1378=) n.645_649delinsCAGGA n.554_558delinsCAGGA c.4142_4146delinsCAGGA (p.Pro1381=) c.3827_3831delinsCAGGA (p.Pro1276=) c.1724_1728delinsCAGGA (p.Pro575=) c.4166_4170delinsCAGGA (p.Pro1389=) c.4157_4161delinsCAGGA (p.Pro1386=) c.4148_4152delinsCAGGA (p.Pro1383=) c.2486_2490delinsCAGGA (p.Pro829=) | |
| X | g.108681825_108681828del | CA869823025 | COL4A5 | c.4153_4156del (p.Gly1385SerfsTer7) c.4135_4138del (p.Gly1379SerfsTer7) n.647_650del n.556_559del c.4144_4147del (p.Gly1382SerfsTer7) c.3829_3832del (p.Gly1277SerfsTer7) c.1726_1729del (p.Gly576SerfsTer7) c.4168_4171del (p.Gly1390SerfsTer7) c.4159_4162del (p.Gly1387SerfsTer7) c.4150_4153del (p.Gly1384SerfsTer7) c.2488_2491del (p.Gly830SerfsTer7) | dbSNP |
| X | g.108681826G>A | CA413852168 | COL4A5 | c.4154G>A (p.Gly1385Glu) c.4136G>A (p.Gly1379Glu) n.648G>A n.557G>A c.4145G>A (p.Gly1382Glu) c.3830G>A (p.Gly1277Glu) c.1727G>A (p.Gly576Glu) c.4169G>A (p.Gly1390Glu) c.4160G>A (p.Gly1387Glu) c.4151G>A (p.Gly1384Glu) c.2489G>A (p.Gly830Glu) | |
| X | g.108681826G>C | CA413852173 | COL4A5 | c.4154G>C (p.Gly1385Ala) c.4136G>C (p.Gly1379Ala) n.648G>C n.557G>C c.4145G>C (p.Gly1382Ala) c.3830G>C (p.Gly1277Ala) c.1727G>C (p.Gly576Ala) c.4169G>C (p.Gly1390Ala) c.4160G>C (p.Gly1387Ala) c.4151G>C (p.Gly1384Ala) c.2489G>C (p.Gly830Ala) | |
| X | g.108681826G= | CA2450717231 | COL4A5 | c.4154G= (p.Gly1385=) c.4136G= (p.Gly1379=) n.648G= n.557G= c.4145G= (p.Gly1382=) c.3830G= (p.Gly1277=) c.1727G= (p.Gly576=) c.4169G= (p.Gly1390=) c.4160G= (p.Gly1387=) c.4151G= (p.Gly1384=) c.2489G= (p.Gly830=) | |
| X | g.108681826G>T | CA258987 | COL4A5 | c.4154G>T (p.Gly1385Val) c.4136G>T (p.Gly1379Val) n.648G>T n.557G>T c.4145G>T (p.Gly1382Val) c.3830G>T (p.Gly1277Val) c.1727G>T (p.Gly576Val) c.4169G>T (p.Gly1390Val) c.4160G>T (p.Gly1387Val) c.4151G>T (p.Gly1384Val) c.2489G>T (p.Gly830Val) | dbSNP |
| X | g.108681826_108681829delinsGAAT | CA2450717232 | COL4A5 | c.4154_4157delinsGAAT (p.Gly1385=) c.4136_4139delinsGAAT (p.Gly1379=) n.648_651delinsGAAT n.557_560delinsGAAT c.4145_4148delinsGAAT (p.Gly1382=) c.3830_3833delinsGAAT (p.Gly1277=) c.1727_1730delinsGAAT (p.Gly576=) c.4169_4172delinsGAAT (p.Gly1390=) c.4160_4163delinsGAAT (p.Gly1387=) c.4151_4154delinsGAAT (p.Gly1384=) c.2489_2492delinsGAAT (p.Gly830=) | |
| X | g.108681827A= | CA2450717233 | COL4A5 | c.4155A= (p.Gly1385=) c.4137A= (p.Gly1379=) n.649A= n.558A= c.4146A= (p.Gly1382=) c.3831A= (p.Gly1277=) c.1728A= (p.Gly576=) c.4170A= (p.Gly1390=) c.4161A= (p.Gly1387=) c.4152A= (p.Gly1384=) c.2490A= (p.Gly830=) | |
| X | g.108681827A>C | CA517923836 | COL4A5 | c.4155A>C (p.Gly1385=) c.4137A>C (p.Gly1379=) n.649A>C n.558A>C c.4146A>C (p.Gly1382=) c.3831A>C (p.Gly1277=) c.1728A>C (p.Gly576=) c.4170A>C (p.Gly1390=) c.4161A>C (p.Gly1387=) c.4152A>C (p.Gly1384=) c.2490A>C (p.Gly830=) | |
| X | g.108681827A>G | CA517923837 | COL4A5 | c.4155A>G (p.Gly1385=) c.4137A>G (p.Gly1379=) n.649A>G n.558A>G c.4146A>G (p.Gly1382=) c.3831A>G (p.Gly1277=) c.1728A>G (p.Gly576=) c.4170A>G (p.Gly1390=) c.4161A>G (p.Gly1387=) c.4152A>G (p.Gly1384=) c.2490A>G (p.Gly830=) | dbSNP |
| X | g.108681827A>T | CA517923838 | COL4A5 | c.4155A>T (p.Gly1385=) c.4137A>T (p.Gly1379=) n.649A>T n.558A>T c.4146A>T (p.Gly1382=) c.3831A>T (p.Gly1277=) c.1728A>T (p.Gly576=) c.4170A>T (p.Gly1390=) c.4161A>T (p.Gly1387=) c.4152A>T (p.Gly1384=) c.2490A>T (p.Gly830=) | |
| X | g.108681827_108681829del | CA891863094 | COL4A5 | c.4155_4157del (p.Ile1386del) c.4137_4139del (p.Ile1380del) n.649_651del n.558_560del c.4146_4148del (p.Ile1383del) c.3831_3833del (p.Ile1278del) c.1728_1730del (p.Ile577del) c.4170_4172del (p.Ile1391del) c.4161_4163del (p.Ile1388del) c.4152_4154del (p.Ile1385del) c.2490_2492del (p.Ile831del) | ClinVar dbSNP |
| X | g.108681828A>C | CA413852179 | COL4A5 | c.4156A>C (p.Ile1386Leu) c.4138A>C (p.Ile1380Leu) n.650A>C n.559A>C c.4147A>C (p.Ile1383Leu) c.3832A>C (p.Ile1278Leu) c.1729A>C (p.Ile577Leu) c.4171A>C (p.Ile1391Leu) c.4162A>C (p.Ile1388Leu) c.4153A>C (p.Ile1385Leu) c.2491A>C (p.Ile831Leu) | |
| X | g.108681828A>G | CA413852181 | COL4A5 | c.4156A>G (p.Ile1386Val) c.4138A>G (p.Ile1380Val) n.650A>G n.559A>G c.4147A>G (p.Ile1383Val) c.3832A>G (p.Ile1278Val) c.1729A>G (p.Ile577Val) c.4171A>G (p.Ile1391Val) c.4162A>G (p.Ile1388Val) c.4153A>G (p.Ile1385Val) c.2491A>G (p.Ile831Val) | |
| X | g.108681828A>T | CA413852183 | COL4A5 | c.4156A>T (p.Ile1386Phe) c.4138A>T (p.Ile1380Phe) n.650A>T n.559A>T c.4147A>T (p.Ile1383Phe) c.3832A>T (p.Ile1278Phe) c.1729A>T (p.Ile577Phe) c.4171A>T (p.Ile1391Phe) c.4162A>T (p.Ile1388Phe) c.4153A>T (p.Ile1385Phe) c.2491A>T (p.Ile831Phe) | |
| X | g.108681829T>A | CA413852185 | COL4A5 | c.4157T>A (p.Ile1386Asn) c.4139T>A (p.Ile1380Asn) n.651T>A n.560T>A c.4148T>A (p.Ile1383Asn) c.3833T>A (p.Ile1278Asn) c.1730T>A (p.Ile577Asn) c.4172T>A (p.Ile1391Asn) c.4163T>A (p.Ile1388Asn) c.4154T>A (p.Ile1385Asn) c.2492T>A (p.Ile831Asn) | |
| X | g.108681829T>C | CA413852191 | COL4A5 | c.4157T>C (p.Ile1386Thr) c.4139T>C (p.Ile1380Thr) n.651T>C n.560T>C c.4148T>C (p.Ile1383Thr) c.3833T>C (p.Ile1278Thr) c.1730T>C (p.Ile577Thr) c.4172T>C (p.Ile1391Thr) c.4163T>C (p.Ile1388Thr) c.4154T>C (p.Ile1385Thr) c.2492T>C (p.Ile831Thr) | |
| X | g.108681829T>G | CA413852187 | COL4A5 | c.4157T>G (p.Ile1386Ser) c.4139T>G (p.Ile1380Ser) n.651T>G n.560T>G c.4148T>G (p.Ile1383Ser) c.3833T>G (p.Ile1278Ser) c.1730T>G (p.Ile577Ser) c.4172T>G (p.Ile1391Ser) c.4163T>G (p.Ile1388Ser) c.4154T>G (p.Ile1385Ser) c.2492T>G (p.Ile831Ser) | gnomAD v4 |
| X | g.108681830C>A | CA517923839 | COL4A5 | c.4158C>A (p.Ile1386=) c.4140C>A (p.Ile1380=) n.652C>A n.561C>A c.4149C>A (p.Ile1383=) c.3834C>A (p.Ile1278=) c.1731C>A (p.Ile577=) c.4173C>A (p.Ile1391=) c.4164C>A (p.Ile1388=) c.4155C>A (p.Ile1385=) c.2493C>A (p.Ile831=) | |
| X | g.108681830C= | CA2450717234 | COL4A5 | c.4158C= (p.Ile1386=) c.4140C= (p.Ile1380=) n.652C= n.561C= c.4149C= (p.Ile1383=) c.3834C= (p.Ile1278=) c.1731C= (p.Ile577=) c.4173C= (p.Ile1391=) c.4164C= (p.Ile1388=) c.4155C= (p.Ile1385=) c.2493C= (p.Ile831=) | |
| X | g.108681830C>G | CA413852196 | COL4A5 | c.4158C>G (p.Ile1386Met) c.4140C>G (p.Ile1380Met) n.652C>G n.561C>G c.4149C>G (p.Ile1383Met) c.3834C>G (p.Ile1278Met) c.1731C>G (p.Ile577Met) c.4173C>G (p.Ile1391Met) c.4164C>G (p.Ile1388Met) c.4155C>G (p.Ile1385Met) c.2493C>G (p.Ile831Met) | |
| X | g.108681830C>T | CA517923840 | COL4A5 | c.4158C>T (p.Ile1386=) c.4140C>T (p.Ile1380=) n.652C>T n.561C>T c.4149C>T (p.Ile1383=) c.3834C>T (p.Ile1278=) c.1731C>T (p.Ile577=) c.4173C>T (p.Ile1391=) c.4164C>T (p.Ile1388=) c.4155C>T (p.Ile1385=) c.2493C>T (p.Ile831=) | COSMIC COSMIC |
| X | g.108681830_108681842delinsCCCTGGCCAGCCT | CA2450717235 | COL4A5 | c.4158_4170delinsCCCTGGCCAGCCT (p.Ile1386=) c.4140_4152delinsCCCTGGCCAGCCT (p.Ile1380=) n.652_664delinsCCCTGGCCAGCCT n.561_573delinsCCCTGGCCAGCCT c.4149_4161delinsCCCTGGCCAGCCT (p.Ile1383=) c.3834_3846delinsCCCTGGCCAGCCT (p.Ile1278=) c.1731_1743delinsCCCTGGCCAGCCT (p.Ile577=) c.4173_4185delinsCCCTGGCCAGCCT (p.Ile1391=) c.4164_4176delinsCCCTGGCCAGCCT (p.Ile1388=) c.4155_4167delinsCCCTGGCCAGCCT (p.Ile1385=) c.2493_2505delinsCCCTGGCCAGCCT (p.Ile831=) | |
| X | g.108681831C>A | CA413852203 | COL4A5 | c.4159C>A (p.Pro1387Thr) c.4141C>A (p.Pro1381Thr) n.653C>A n.562C>A c.4150C>A (p.Pro1384Thr) c.3835C>A (p.Pro1279Thr) c.1732C>A (p.Pro578Thr) c.4174C>A (p.Pro1392Thr) c.4165C>A (p.Pro1389Thr) c.4156C>A (p.Pro1386Thr) c.2494C>A (p.Pro832Thr) | |
| X | g.108681831C>G | CA413852200 | COL4A5 | c.4159C>G (p.Pro1387Ala) c.4141C>G (p.Pro1381Ala) n.653C>G n.562C>G c.4150C>G (p.Pro1384Ala) c.3835C>G (p.Pro1279Ala) c.1732C>G (p.Pro578Ala) c.4174C>G (p.Pro1392Ala) c.4165C>G (p.Pro1389Ala) c.4156C>G (p.Pro1386Ala) c.2494C>G (p.Pro832Ala) | |
| X | g.108681831C>T | CA413852206 | COL4A5 | c.4159C>T (p.Pro1387Ser) c.4141C>T (p.Pro1381Ser) n.653C>T n.562C>T c.4150C>T (p.Pro1384Ser) c.3835C>T (p.Pro1279Ser) c.1732C>T (p.Pro578Ser) c.4174C>T (p.Pro1392Ser) c.4165C>T (p.Pro1389Ser) c.4156C>T (p.Pro1386Ser) c.2494C>T (p.Pro832Ser) | |
| X | g.108681833_108681834insTCCT | CA334055348 | COL4A5 | c.4161_4162insTCCT (p.Gly1388SerfsTer?) c.4143_4144insTCCT (p.Gly1382SerfsTer?) n.655_656insTCCT n.564_565insTCCT c.4152_4153insTCCT (p.Gly1385SerfsTer?) c.3837_3838insTCCT (p.Gly1280SerfsTer?) c.1734_1735insTCCT (p.Gly579SerfsTer?) c.4176_4177insTCCT (p.Gly1393SerfsTer?) c.4167_4168insTCCT (p.Gly1390SerfsTer?) c.4158_4159insTCCT (p.Gly1387SerfsTer?) c.2496_2497insTCCT (p.Gly833SerfsTer?) | dbSNP |
| X | g.108681831_108681842del | CA658824368 | COL4A5 | c.4159_4170del (p.Pro1387_Pro1390del) c.4141_4152del (p.Pro1381_Pro1384del) n.653_664del n.562_573del c.4150_4161del (p.Pro1384_Pro1387del) c.3835_3846del (p.Pro1279_Pro1282del) c.1732_1743del (p.Pro578_Pro581del) c.4174_4185del (p.Pro1392_Pro1395del) c.4165_4176del (p.Pro1389_Pro1392del) c.4156_4167del (p.Pro1386_Pro1389del) c.2494_2505del (p.Pro832_Pro835del) | ClinVar dbSNP |
| X | g.108681832C>A | CA413852214 | COL4A5 | c.4160C>A (p.Pro1387His) c.4142C>A (p.Pro1381His) n.654C>A n.563C>A c.4151C>A (p.Pro1384His) c.3836C>A (p.Pro1279His) c.1733C>A (p.Pro578His) c.4175C>A (p.Pro1392His) c.4166C>A (p.Pro1389His) c.4157C>A (p.Pro1386His) c.2495C>A (p.Pro832His) | |
| X | g.108681832C= | CA2450717236 | COL4A5 | c.4160C= (p.Pro1387=) c.4142C= (p.Pro1381=) n.654C= n.563C= c.4151C= (p.Pro1384=) c.3836C= (p.Pro1279=) c.1733C= (p.Pro578=) c.4175C= (p.Pro1392=) c.4166C= (p.Pro1389=) c.4157C= (p.Pro1386=) c.2495C= (p.Pro832=) | |
| X | g.108681832C>G | CA413852217 | COL4A5 | c.4160C>G (p.Pro1387Arg) c.4142C>G (p.Pro1381Arg) n.654C>G n.563C>G c.4151C>G (p.Pro1384Arg) c.3836C>G (p.Pro1279Arg) c.1733C>G (p.Pro578Arg) c.4175C>G (p.Pro1392Arg) c.4166C>G (p.Pro1389Arg) c.4157C>G (p.Pro1386Arg) c.2495C>G (p.Pro832Arg) | |
| X | g.108681832C>T | CA10489299 | COL4A5 | c.4160C>T (p.Pro1387Leu) c.4142C>T (p.Pro1381Leu) n.654C>T n.563C>T c.4151C>T (p.Pro1384Leu) c.3836C>T (p.Pro1279Leu) c.1733C>T (p.Pro578Leu) c.4175C>T (p.Pro1392Leu) c.4166C>T (p.Pro1389Leu) c.4157C>T (p.Pro1386Leu) c.2495C>T (p.Pro832Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108681833T>A | CA517923841 | COL4A5 | c.4161T>A (p.Pro1387=) c.4143T>A (p.Pro1381=) n.655T>A n.564T>A c.4152T>A (p.Pro1384=) c.3837T>A (p.Pro1279=) c.1734T>A (p.Pro578=) c.4176T>A (p.Pro1392=) c.4167T>A (p.Pro1389=) c.4158T>A (p.Pro1386=) c.2496T>A (p.Pro832=) | |
| X | g.108681833T>C | CA517923843 | COL4A5 | c.4161T>C (p.Pro1387=) c.4143T>C (p.Pro1381=) n.655T>C n.564T>C c.4152T>C (p.Pro1384=) c.3837T>C (p.Pro1279=) c.1734T>C (p.Pro578=) c.4176T>C (p.Pro1392=) c.4167T>C (p.Pro1389=) c.4158T>C (p.Pro1386=) c.2496T>C (p.Pro832=) | gnomAD v4 |
| X | g.108681833T>G | CA517923842 | COL4A5 | c.4161T>G (p.Pro1387=) c.4143T>G (p.Pro1381=) n.655T>G n.564T>G c.4152T>G (p.Pro1384=) c.3837T>G (p.Pro1279=) c.1734T>G (p.Pro578=) c.4176T>G (p.Pro1392=) c.4167T>G (p.Pro1389=) c.4158T>G (p.Pro1386=) c.2496T>G (p.Pro832=) | |
| X | g.108681834G>A | CA413852220 | COL4A5 | c.4162G>A (p.Gly1388Ser) c.4144G>A (p.Gly1382Ser) n.656G>A n.565G>A c.4153G>A (p.Gly1385Ser) c.3838G>A (p.Gly1280Ser) c.1735G>A (p.Gly579Ser) c.4177G>A (p.Gly1393Ser) c.4168G>A (p.Gly1390Ser) c.4159G>A (p.Gly1387Ser) c.2497G>A (p.Gly833Ser) | ClinVar gnomAD v4 |
| X | g.108681834G>C | CA413852221 | COL4A5 | c.4162G>C (p.Gly1388Arg) c.4144G>C (p.Gly1382Arg) n.656G>C n.565G>C c.4153G>C (p.Gly1385Arg) c.3838G>C (p.Gly1280Arg) c.1735G>C (p.Gly579Arg) c.4177G>C (p.Gly1393Arg) c.4168G>C (p.Gly1390Arg) c.4159G>C (p.Gly1387Arg) c.2497G>C (p.Gly833Arg) | |
| X | g.108681834G>T | CA413852222 | COL4A5 | c.4162G>T (p.Gly1388Cys) c.4144G>T (p.Gly1382Cys) n.656G>T n.565G>T c.4153G>T (p.Gly1385Cys) c.3838G>T (p.Gly1280Cys) c.1735G>T (p.Gly579Cys) c.4177G>T (p.Gly1393Cys) c.4168G>T (p.Gly1390Cys) c.4159G>T (p.Gly1387Cys) c.2497G>T (p.Gly833Cys) | |
| X | g.108681835G>A | CA413852224 | COL4A5 | c.4163G>A (p.Gly1388Asp) c.4145G>A (p.Gly1382Asp) n.657G>A n.566G>A c.4154G>A (p.Gly1385Asp) c.3839G>A (p.Gly1280Asp) c.1736G>A (p.Gly579Asp) c.4178G>A (p.Gly1393Asp) c.4169G>A (p.Gly1390Asp) c.4160G>A (p.Gly1387Asp) c.2498G>A (p.Gly833Asp) | gnomAD v4 |
| X | g.108681835G>C | CA413852225 | COL4A5 | c.4163G>C (p.Gly1388Ala) c.4145G>C (p.Gly1382Ala) n.657G>C n.566G>C c.4154G>C (p.Gly1385Ala) c.3839G>C (p.Gly1280Ala) c.1736G>C (p.Gly579Ala) c.4178G>C (p.Gly1393Ala) c.4169G>C (p.Gly1390Ala) c.4160G>C (p.Gly1387Ala) c.2498G>C (p.Gly833Ala) | |
| X | g.108681835G>T | CA413852229 | COL4A5 | c.4163G>T (p.Gly1388Val) c.4145G>T (p.Gly1382Val) n.657G>T n.566G>T c.4154G>T (p.Gly1385Val) c.3839G>T (p.Gly1280Val) c.1736G>T (p.Gly579Val) c.4178G>T (p.Gly1393Val) c.4169G>T (p.Gly1390Val) c.4160G>T (p.Gly1387Val) c.2498G>T (p.Gly833Val) | |
| X | g.108681836C>A | CA517923844 | COL4A5 | c.4164C>A (p.Gly1388=) c.4146C>A (p.Gly1382=) n.658C>A n.567C>A c.4155C>A (p.Gly1385=) c.3840C>A (p.Gly1280=) c.1737C>A (p.Gly579=) c.4179C>A (p.Gly1393=) c.4170C>A (p.Gly1390=) c.4161C>A (p.Gly1387=) c.2499C>A (p.Gly833=) | |
| X | g.108681836C>G | CA517923845 | COL4A5 | c.4164C>G (p.Gly1388=) c.4146C>G (p.Gly1382=) n.658C>G n.567C>G c.4155C>G (p.Gly1385=) c.3840C>G (p.Gly1280=) c.1737C>G (p.Gly579=) c.4179C>G (p.Gly1393=) c.4170C>G (p.Gly1390=) c.4161C>G (p.Gly1387=) c.2499C>G (p.Gly833=) | |
| X | g.108681836C>T | CA517923846 | COL4A5 | c.4164C>T (p.Gly1388=) c.4146C>T (p.Gly1382=) n.658C>T n.567C>T c.4155C>T (p.Gly1385=) c.3840C>T (p.Gly1280=) c.1737C>T (p.Gly579=) c.4179C>T (p.Gly1393=) c.4170C>T (p.Gly1390=) c.4161C>T (p.Gly1387=) c.2499C>T (p.Gly833=) | COSMIC COSMIC |
| X | g.108681837C>A | CA413852231 | COL4A5 | c.4165C>A (p.Gln1389Lys) c.4147C>A (p.Gln1383Lys) n.659C>A n.568C>A c.4156C>A (p.Gln1386Lys) c.3841C>A (p.Gln1281Lys) c.1738C>A (p.Gln580Lys) c.4180C>A (p.Gln1394Lys) c.4171C>A (p.Gln1391Lys) c.4162C>A (p.Gln1388Lys) c.2500C>A (p.Gln834Lys) | |
| X | g.108681837C= | CA2450717237 | COL4A5 | c.4165C= (p.Gln1389=) c.4147C= (p.Gln1383=) n.659C= n.568C= c.4156C= (p.Gln1386=) c.3841C= (p.Gln1281=) c.1738C= (p.Gln580=) c.4180C= (p.Gln1394=) c.4171C= (p.Gln1391=) c.4162C= (p.Gln1388=) c.2500C= (p.Gln834=) | |
| X | g.108681837C>G | CA413852233 | COL4A5 | c.4165C>G (p.Gln1389Glu) c.4147C>G (p.Gln1383Glu) n.659C>G n.568C>G c.4156C>G (p.Gln1386Glu) c.3841C>G (p.Gln1281Glu) c.1738C>G (p.Gln580Glu) c.4180C>G (p.Gln1394Glu) c.4171C>G (p.Gln1391Glu) c.4162C>G (p.Gln1388Glu) c.2500C>G (p.Gln834Glu) | |
| X | g.108681837C>T | CA258989 | COL4A5 | c.4165C>T (p.Gln1389Ter) c.4147C>T (p.Gln1383Ter) n.659C>T n.568C>T c.4156C>T (p.Gln1386Ter) c.3841C>T (p.Gln1281Ter) c.1738C>T (p.Gln580Ter) c.4180C>T (p.Gln1394Ter) c.4171C>T (p.Gln1391Ter) c.4162C>T (p.Gln1388Ter) c.2500C>T (p.Gln834Ter) | ClinVar dbSNP |
| X | g.108681838A>C | CA413852240 | COL4A5 | c.4166A>C (p.Gln1389Pro) c.4148A>C (p.Gln1383Pro) n.660A>C n.569A>C c.4157A>C (p.Gln1386Pro) c.3842A>C (p.Gln1281Pro) c.1739A>C (p.Gln580Pro) c.4181A>C (p.Gln1394Pro) c.4172A>C (p.Gln1391Pro) c.4163A>C (p.Gln1388Pro) c.2501A>C (p.Gln834Pro) | |
| X | g.108681838A>G | CA413852238 | COL4A5 | c.4166A>G (p.Gln1389Arg) c.4148A>G (p.Gln1383Arg) n.660A>G n.569A>G c.4157A>G (p.Gln1386Arg) c.3842A>G (p.Gln1281Arg) c.1739A>G (p.Gln580Arg) c.4181A>G (p.Gln1394Arg) c.4172A>G (p.Gln1391Arg) c.4163A>G (p.Gln1388Arg) c.2501A>G (p.Gln834Arg) |