| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | 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) | |
| X | g.108681838A>T | CA413852239 | COL4A5 | c.4166A>T (p.Gln1389Leu) c.4148A>T (p.Gln1383Leu) n.660A>T n.569A>T c.4157A>T (p.Gln1386Leu) c.3842A>T (p.Gln1281Leu) c.1739A>T (p.Gln580Leu) c.4181A>T (p.Gln1394Leu) c.4172A>T (p.Gln1391Leu) c.4163A>T (p.Gln1388Leu) c.2501A>T (p.Gln834Leu) | |
| X | g.108681839G>A | CA517923847 | COL4A5 | c.4167G>A (p.Gln1389=) c.4149G>A (p.Gln1383=) n.661G>A n.570G>A c.4158G>A (p.Gln1386=) c.3843G>A (p.Gln1281=) c.1740G>A (p.Gln580=) c.4182G>A (p.Gln1394=) c.4173G>A (p.Gln1391=) c.4164G>A (p.Gln1388=) c.2502G>A (p.Gln834=) | gnomAD v4 |
| X | g.108681839G>C | CA413852245 | COL4A5 | c.4167G>C (p.Gln1389His) c.4149G>C (p.Gln1383His) n.661G>C n.570G>C c.4158G>C (p.Gln1386His) c.3843G>C (p.Gln1281His) c.1740G>C (p.Gln580His) c.4182G>C (p.Gln1394His) c.4173G>C (p.Gln1391His) c.4164G>C (p.Gln1388His) c.2502G>C (p.Gln834His) | |
| X | g.108681839G>T | CA413852248 | COL4A5 | c.4167G>T (p.Gln1389His) c.4149G>T (p.Gln1383His) n.661G>T n.570G>T c.4158G>T (p.Gln1386His) c.3843G>T (p.Gln1281His) c.1740G>T (p.Gln580His) c.4182G>T (p.Gln1394His) c.4173G>T (p.Gln1391His) c.4164G>T (p.Gln1388His) c.2502G>T (p.Gln834His) | |
| X | g.108681840C>A | CA413852251 | COL4A5 | c.4168C>A (p.Pro1390Thr) c.4150C>A (p.Pro1384Thr) n.662C>A n.571C>A c.4159C>A (p.Pro1387Thr) c.3844C>A (p.Pro1282Thr) c.1741C>A (p.Pro581Thr) c.4183C>A (p.Pro1395Thr) c.4174C>A (p.Pro1392Thr) c.4165C>A (p.Pro1389Thr) c.2503C>A (p.Pro835Thr) | |
| X | g.108681840C>G | CA413852252 | COL4A5 | c.4168C>G (p.Pro1390Ala) c.4150C>G (p.Pro1384Ala) n.662C>G n.571C>G c.4159C>G (p.Pro1387Ala) c.3844C>G (p.Pro1282Ala) c.1741C>G (p.Pro581Ala) c.4183C>G (p.Pro1395Ala) c.4174C>G (p.Pro1392Ala) c.4165C>G (p.Pro1389Ala) c.2503C>G (p.Pro835Ala) | |
| X | g.108681840C>T | CA413852254 | COL4A5 | c.4168C>T (p.Pro1390Ser) c.4150C>T (p.Pro1384Ser) n.662C>T n.571C>T c.4159C>T (p.Pro1387Ser) c.3844C>T (p.Pro1282Ser) c.1741C>T (p.Pro581Ser) c.4183C>T (p.Pro1395Ser) c.4174C>T (p.Pro1392Ser) c.4165C>T (p.Pro1389Ser) c.2503C>T (p.Pro835Ser) | gnomAD v4 |
| X | g.108681841del | CA2573051218 | COL4A5 | c.4169del (p.Pro1390LeufsTer3) c.4151del (p.Pro1384LeufsTer3) n.663del n.572del c.4160del (p.Pro1387LeufsTer3) c.3845del (p.Pro1282LeufsTer3) c.1742del (p.Pro581LeufsTer3) c.4184del (p.Pro1395LeufsTer3) c.4175del (p.Pro1392LeufsTer3) c.4166del (p.Pro1389LeufsTer3) c.2504del (p.Pro835LeufsTer3) | |
| X | g.108681841C>A | CA413852256 | COL4A5 | c.4169C>A (p.Pro1390His) c.4151C>A (p.Pro1384His) n.663C>A n.572C>A c.4160C>A (p.Pro1387His) c.3845C>A (p.Pro1282His) c.1742C>A (p.Pro581His) c.4184C>A (p.Pro1395His) c.4175C>A (p.Pro1392His) c.4166C>A (p.Pro1389His) c.2504C>A (p.Pro835His) | |
| X | g.108681841C>G | CA413852260 | COL4A5 | c.4169C>G (p.Pro1390Arg) c.4151C>G (p.Pro1384Arg) n.663C>G n.572C>G c.4160C>G (p.Pro1387Arg) c.3845C>G (p.Pro1282Arg) c.1742C>G (p.Pro581Arg) c.4184C>G (p.Pro1395Arg) c.4175C>G (p.Pro1392Arg) c.4166C>G (p.Pro1389Arg) c.2504C>G (p.Pro835Arg) | |
| X | g.108681841C>T | CA413852262 | COL4A5 | c.4169C>T (p.Pro1390Leu) c.4151C>T (p.Pro1384Leu) n.663C>T n.572C>T c.4160C>T (p.Pro1387Leu) c.3845C>T (p.Pro1282Leu) c.1742C>T (p.Pro581Leu) c.4184C>T (p.Pro1395Leu) c.4175C>T (p.Pro1392Leu) c.4166C>T (p.Pro1389Leu) c.2504C>T (p.Pro835Leu) | |
| X | g.108681842T>A | CA517923848 | COL4A5 | c.4170T>A (p.Pro1390=) c.4152T>A (p.Pro1384=) n.664T>A n.573T>A c.4161T>A (p.Pro1387=) c.3846T>A (p.Pro1282=) c.1743T>A (p.Pro581=) c.4185T>A (p.Pro1395=) c.4176T>A (p.Pro1392=) c.4167T>A (p.Pro1389=) c.2505T>A (p.Pro835=) | |
| X | g.108681842T>C | CA517923849 | COL4A5 | c.4170T>C (p.Pro1390=) c.4152T>C (p.Pro1384=) n.664T>C n.573T>C c.4161T>C (p.Pro1387=) c.3846T>C (p.Pro1282=) c.1743T>C (p.Pro581=) c.4185T>C (p.Pro1395=) c.4176T>C (p.Pro1392=) c.4167T>C (p.Pro1389=) c.2505T>C (p.Pro835=) | |
| X | g.108681842T>G | CA517923850 | COL4A5 | c.4170T>G (p.Pro1390=) c.4152T>G (p.Pro1384=) n.664T>G n.573T>G c.4161T>G (p.Pro1387=) c.3846T>G (p.Pro1282=) c.1743T>G (p.Pro581=) c.4185T>G (p.Pro1395=) c.4176T>G (p.Pro1392=) c.4167T>G (p.Pro1389=) c.2505T>G (p.Pro835=) | |
| X | g.108681843G>A | CA413852265 | COL4A5 | c.4171G>A (p.Gly1391Arg) c.4153G>A (p.Gly1385Arg) n.665G>A n.574G>A c.4162G>A (p.Gly1388Arg) c.3847G>A (p.Gly1283Arg) c.1744G>A (p.Gly582Arg) c.4186G>A (p.Gly1396Arg) c.4177G>A (p.Gly1393Arg) c.4168G>A (p.Gly1390Arg) c.2506G>A (p.Gly836Arg) | |
| X | g.108681843G>C | CA413852266 | COL4A5 | c.4171G>C (p.Gly1391Arg) c.4153G>C (p.Gly1385Arg) n.665G>C n.574G>C c.4162G>C (p.Gly1388Arg) c.3847G>C (p.Gly1283Arg) c.1744G>C (p.Gly582Arg) c.4186G>C (p.Gly1396Arg) c.4177G>C (p.Gly1393Arg) c.4168G>C (p.Gly1390Arg) c.2506G>C (p.Gly836Arg) | |
| X | g.108681843G>T | CA413852270 | COL4A5 | c.4171G>T (p.Gly1391Trp) c.4153G>T (p.Gly1385Trp) n.665G>T n.574G>T c.4162G>T (p.Gly1388Trp) c.3847G>T (p.Gly1283Trp) c.1744G>T (p.Gly582Trp) c.4186G>T (p.Gly1396Trp) c.4177G>T (p.Gly1393Trp) c.4168G>T (p.Gly1390Trp) c.2506G>T (p.Gly836Trp) | |
| X | g.108681844G>A | CA413852279 | COL4A5 | c.4172G>A (p.Gly1391Glu) c.4154G>A (p.Gly1385Glu) n.666G>A n.575G>A c.4163G>A (p.Gly1388Glu) c.3848G>A (p.Gly1283Glu) c.1745G>A (p.Gly582Glu) c.4187G>A (p.Gly1396Glu) c.4178G>A (p.Gly1393Glu) c.4169G>A (p.Gly1390Glu) c.2507G>A (p.Gly836Glu) | |
| X | g.108681844G>C | CA413852281 | COL4A5 | c.4172G>C (p.Gly1391Ala) c.4154G>C (p.Gly1385Ala) n.666G>C n.575G>C c.4163G>C (p.Gly1388Ala) c.3848G>C (p.Gly1283Ala) c.1745G>C (p.Gly582Ala) c.4187G>C (p.Gly1396Ala) c.4178G>C (p.Gly1393Ala) c.4169G>C (p.Gly1390Ala) c.2507G>C (p.Gly836Ala) | |
| X | g.108681844G= | CA2450717238 | COL4A5 | c.4172G= (p.Gly1391=) c.4154G= (p.Gly1385=) n.666G= n.575G= c.4163G= (p.Gly1388=) c.3848G= (p.Gly1283=) c.1745G= (p.Gly582=) c.4187G= (p.Gly1396=) c.4178G= (p.Gly1393=) c.4169G= (p.Gly1390=) c.2507G= (p.Gly836=) | |
| X | g.108681844G>T | CA413852277 | COL4A5 | c.4172G>T (p.Gly1391Val) c.4154G>T (p.Gly1385Val) n.666G>T n.575G>T c.4163G>T (p.Gly1388Val) c.3848G>T (p.Gly1283Val) c.1745G>T (p.Gly582Val) c.4187G>T (p.Gly1396Val) c.4178G>T (p.Gly1393Val) c.4169G>T (p.Gly1390Val) c.2507G>T (p.Gly836Val) | dbSNP |
| X | g.108681845G>A | CA517923851 | COL4A5 | c.4173G>A (p.Gly1391=) c.4155G>A (p.Gly1385=) n.667G>A n.576G>A c.4164G>A (p.Gly1388=) c.3849G>A (p.Gly1283=) c.1746G>A (p.Gly582=) c.4188G>A (p.Gly1396=) c.4179G>A (p.Gly1393=) c.4170G>A (p.Gly1390=) c.2508G>A (p.Gly836=) | dbSNP gnomAD v3 gnomAD v4 |