| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108677504_108677567delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT | CA2450715755 | COL4A5 | c.3813_3876delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1271=) c.3795_3858delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1265=) n.307_370delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT n.216_279delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT c.3804_3867delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1268=) c.3489_3552delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1163=) c.1386_1449delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu462=) c.3828_3891delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1276=) c.3819_3882delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1273=) c.3810_3873delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu1270=) c.2148_2211delinsACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAAT (p.Leu716=) | |
| X | g.108677510_108677572del | CA16609465 | COL4A5 | c.3819_3881del (p.Pro1274_Gly1294del) c.3801_3863del (p.Pro1268_Gly1288del) n.313_375del n.222_284del c.3810_3872del (p.Pro1271_Gly1291del) c.3495_3557del (p.Pro1166_Gly1186del) c.1392_1454del (p.Pro465_Gly485del) c.3834_3896del (p.Pro1279_Gly1299del) c.3825_3887del (p.Pro1276_Gly1296del) c.3816_3878del (p.Pro1273_Gly1293del) c.2154_2216del (p.Pro719_Gly739del) | ClinVar dbSNP |
| X | g.108677519_108677562del | CA2697544724 | COL4A5 | c.3828_3871del (p.Pro1277LysfsTer25) c.3810_3853del (p.Pro1271LysfsTer25) n.322_365del n.231_274del c.3819_3862del (p.Pro1274LysfsTer25) c.3504_3547del (p.Pro1169LysfsTer25) c.1401_1444del (p.Pro468LysfsTer25) c.3843_3886del (p.Pro1282LysfsTer25) c.3834_3877del (p.Pro1279LysfsTer25) c.3825_3868del (p.Pro1276LysfsTer25) c.3843_3886del (p.Pro1282LysfsTer26) c.2163_2206del (p.Pro722LysfsTer25) | ClinVar |
| X | g.108677546_108677562delinsAGAGAAGGA | CA2695235661 | COL4A5 | c.3855_3871delinsAGAGAAGGA (p.Ile1286GlufsTer28) c.3837_3853delinsAGAGAAGGA (p.Ile1280GlufsTer28) n.349_365delinsAGAGAAGGA n.258_274delinsAGAGAAGGA c.3846_3862delinsAGAGAAGGA (p.Ile1283GlufsTer28) c.3531_3547delinsAGAGAAGGA (p.Ile1178GlufsTer28) c.1428_1444delinsAGAGAAGGA (p.Ile477GlufsTer28) c.3870_3886delinsAGAGAAGGA (p.Ile1291GlufsTer28) c.3861_3877delinsAGAGAAGGA (p.Ile1288GlufsTer28) c.3852_3868delinsAGAGAAGGA (p.Ile1285GlufsTer28) c.3870_3886delinsAGAGAAGGA (p.Ile1291GlufsTer29) c.2190_2206delinsAGAGAAGGA (p.Ile731GlufsTer28) | |
| X | g.108677561G>A | CA517923332 | COL4A5 | c.3870G>A (p.Lys1290=) c.3852G>A (p.Lys1284=) n.364G>A n.273G>A c.3861G>A (p.Lys1287=) c.3546G>A (p.Lys1182=) c.1443G>A (p.Lys481=) c.3885G>A (p.Lys1295=) c.3876G>A (p.Lys1292=) c.3867G>A (p.Lys1289=) c.2205G>A (p.Lys735=) | |
| X | g.108677561G>C | CA413850365 | COL4A5 | c.3870G>C (p.Lys1290Asn) c.3852G>C (p.Lys1284Asn) n.364G>C n.273G>C c.3861G>C (p.Lys1287Asn) c.3546G>C (p.Lys1182Asn) c.1443G>C (p.Lys481Asn) c.3885G>C (p.Lys1295Asn) c.3876G>C (p.Lys1292Asn) c.3867G>C (p.Lys1289Asn) c.2205G>C (p.Lys735Asn) | |
| X | g.108677561G>T | CA413850368 | COL4A5 | c.3870G>T (p.Lys1290Asn) c.3852G>T (p.Lys1284Asn) n.364G>T n.273G>T c.3861G>T (p.Lys1287Asn) c.3546G>T (p.Lys1182Asn) c.1443G>T (p.Lys481Asn) c.3885G>T (p.Lys1295Asn) c.3876G>T (p.Lys1292Asn) c.3867G>T (p.Lys1289Asn) c.2205G>T (p.Lys735Asn) | gnomAD v4 |
| X | g.108677563dup | CA1139667745 | COL4A5 | c.3872dup (p.Asn1292LysfsTer25) c.3854dup (p.Asn1286LysfsTer25) n.366dup n.275dup c.3863dup (p.Asn1289LysfsTer25) c.3548dup (p.Asn1184LysfsTer25) c.1445dup (p.Asn483LysfsTer25) c.3887dup (p.Asn1297LysfsTer25) c.3878dup (p.Asn1294LysfsTer25) c.3869dup (p.Asn1291LysfsTer25) c.3887dup (p.Asn1297LysfsTer26) c.2207dup (p.Asn737LysfsTer25) | ClinVar dbSNP |
| X | g.108677562G>A | CA413850370 | COL4A5 | c.3871G>A (p.Gly1291Arg) c.3853G>A (p.Gly1285Arg) n.365G>A n.274G>A c.3862G>A (p.Gly1288Arg) c.3547G>A (p.Gly1183Arg) c.1444G>A (p.Gly482Arg) c.3886G>A (p.Gly1296Arg) c.3877G>A (p.Gly1293Arg) c.3868G>A (p.Gly1290Arg) c.2206G>A (p.Gly736Arg) | |
| X | g.108677562G>C | CA413850371 | COL4A5 | c.3871G>C (p.Gly1291Arg) c.3853G>C (p.Gly1285Arg) n.365G>C n.274G>C c.3862G>C (p.Gly1288Arg) c.3547G>C (p.Gly1183Arg) c.1444G>C (p.Gly482Arg) c.3886G>C (p.Gly1296Arg) c.3877G>C (p.Gly1293Arg) c.3868G>C (p.Gly1290Arg) c.2206G>C (p.Gly736Arg) | |
| X | g.108677562G>T | CA413850373 | COL4A5 | c.3871G>T (p.Gly1291Ter) c.3853G>T (p.Gly1285Ter) n.365G>T n.274G>T c.3862G>T (p.Gly1288Ter) c.3547G>T (p.Gly1183Ter) c.1444G>T (p.Gly482Ter) c.3886G>T (p.Gly1296Ter) c.3877G>T (p.Gly1293Ter) c.3868G>T (p.Gly1290Ter) c.2206G>T (p.Gly736Ter) | |
| X | g.108677562_108677563insA | CA2695235662 | COL4A5 | c.3871_3872insA (p.Gly1291GlufsTer26) c.3853_3854insA (p.Gly1285GlufsTer26) n.365_366insA n.274_275insA c.3862_3863insA (p.Gly1288GlufsTer26) c.3547_3548insA (p.Gly1183GlufsTer26) c.1444_1445insA (p.Gly482GlufsTer26) c.3886_3887insA (p.Gly1296GlufsTer26) c.3877_3878insA (p.Gly1293GlufsTer26) c.3868_3869insA (p.Gly1290GlufsTer26) c.3886_3887insA (p.Gly1296GlufsTer27) c.2206_2207insA (p.Gly736GlufsTer26) | |
| X | g.108677563G>A | CA413850375 | COL4A5 | c.3872G>A (p.Gly1291Glu) c.3854G>A (p.Gly1285Glu) n.366G>A n.275G>A c.3863G>A (p.Gly1288Glu) c.3548G>A (p.Gly1183Glu) c.1445G>A (p.Gly482Glu) c.3887G>A (p.Gly1296Glu) c.3878G>A (p.Gly1293Glu) c.3869G>A (p.Gly1290Glu) c.2207G>A (p.Gly736Glu) | dbSNP |
| X | g.108677563G>C | CA413850379 | COL4A5 | c.3872G>C (p.Gly1291Ala) c.3854G>C (p.Gly1285Ala) n.366G>C n.275G>C c.3863G>C (p.Gly1288Ala) c.3548G>C (p.Gly1183Ala) c.1445G>C (p.Gly482Ala) c.3887G>C (p.Gly1296Ala) c.3878G>C (p.Gly1293Ala) c.3869G>C (p.Gly1290Ala) c.2207G>C (p.Gly736Ala) | |
| X | g.108677563G= | CA2450715777 | COL4A5 | c.3872G= (p.Gly1291=) c.3854G= (p.Gly1285=) n.366G= n.275G= c.3863G= (p.Gly1288=) c.3548G= (p.Gly1183=) c.1445G= (p.Gly482=) c.3887G= (p.Gly1296=) c.3878G= (p.Gly1293=) c.3869G= (p.Gly1290=) c.2207G= (p.Gly736=) | |
| X | g.108677563G>T | CA413850377 | COL4A5 | c.3872G>T (p.Gly1291Val) c.3854G>T (p.Gly1285Val) n.366G>T n.275G>T c.3863G>T (p.Gly1288Val) c.3548G>T (p.Gly1183Val) c.1445G>T (p.Gly482Val) c.3887G>T (p.Gly1296Val) c.3878G>T (p.Gly1293Val) c.3869G>T (p.Gly1290Val) c.2207G>T (p.Gly736Val) | |
| X | g.108677564A>C | CA517923334 | COL4A5 | c.3873A>C (p.Gly1291=) c.3855A>C (p.Gly1285=) n.367A>C n.276A>C c.3864A>C (p.Gly1288=) c.3549A>C (p.Gly1183=) c.1446A>C (p.Gly482=) c.3888A>C (p.Gly1296=) c.3879A>C (p.Gly1293=) c.3870A>C (p.Gly1290=) c.2208A>C (p.Gly736=) | |
| X | g.108677564A>G | CA517923336 | COL4A5 | c.3873A>G (p.Gly1291=) c.3855A>G (p.Gly1285=) n.367A>G n.276A>G c.3864A>G (p.Gly1288=) c.3549A>G (p.Gly1183=) c.1446A>G (p.Gly482=) c.3888A>G (p.Gly1296=) c.3879A>G (p.Gly1293=) c.3870A>G (p.Gly1290=) c.2208A>G (p.Gly736=) | |
| X | g.108677564A>T | CA517923338 | COL4A5 | c.3873A>T (p.Gly1291=) c.3855A>T (p.Gly1285=) n.367A>T n.276A>T c.3864A>T (p.Gly1288=) c.3549A>T (p.Gly1183=) c.1446A>T (p.Gly482=) c.3888A>T (p.Gly1296=) c.3879A>T (p.Gly1293=) c.3870A>T (p.Gly1290=) c.2208A>T (p.Gly736=) | |
| X | g.108677566dup | CA1139667746 | COL4A5 | c.3875dup (p.Asn1292LysfsTer25) c.3857dup (p.Asn1286LysfsTer25) n.369dup n.278dup c.3866dup (p.Asn1289LysfsTer25) c.3551dup (p.Asn1184LysfsTer25) c.1448dup (p.Asn483LysfsTer25) c.3890dup (p.Asn1297LysfsTer25) c.3881dup (p.Asn1294LysfsTer25) c.3872dup (p.Asn1291LysfsTer25) c.3890dup (p.Asn1297LysfsTer26) c.2210dup (p.Asn737LysfsTer25) | |
| X | g.108677565A>C | CA413850384 | COL4A5 | c.3874A>C (p.Asn1292His) c.3856A>C (p.Asn1286His) n.368A>C n.277A>C c.3865A>C (p.Asn1289His) c.3550A>C (p.Asn1184His) c.1447A>C (p.Asn483His) c.3889A>C (p.Asn1297His) c.3880A>C (p.Asn1294His) c.3871A>C (p.Asn1291His) c.2209A>C (p.Asn737His) | |
| X | g.108677565A>G | CA413850385 | COL4A5 | c.3874A>G (p.Asn1292Asp) c.3856A>G (p.Asn1286Asp) n.368A>G n.277A>G c.3865A>G (p.Asn1289Asp) c.3550A>G (p.Asn1184Asp) c.1447A>G (p.Asn483Asp) c.3889A>G (p.Asn1297Asp) c.3880A>G (p.Asn1294Asp) c.3871A>G (p.Asn1291Asp) c.2209A>G (p.Asn737Asp) | |
| X | g.108677565A>T | CA413850388 | COL4A5 | c.3874A>T (p.Asn1292Tyr) c.3856A>T (p.Asn1286Tyr) n.368A>T n.277A>T c.3865A>T (p.Asn1289Tyr) c.3550A>T (p.Asn1184Tyr) c.1447A>T (p.Asn483Tyr) c.3889A>T (p.Asn1297Tyr) c.3880A>T (p.Asn1294Tyr) c.3871A>T (p.Asn1291Tyr) c.2209A>T (p.Asn737Tyr) | |
| X | g.108677566A>C | CA413850390 | COL4A5 | c.3875A>C (p.Asn1292Thr) c.3857A>C (p.Asn1286Thr) n.369A>C n.278A>C c.3866A>C (p.Asn1289Thr) c.3551A>C (p.Asn1184Thr) c.1448A>C (p.Asn483Thr) c.3890A>C (p.Asn1297Thr) c.3881A>C (p.Asn1294Thr) c.3872A>C (p.Asn1291Thr) c.2210A>C (p.Asn737Thr) | |
| X | g.108677566A>G | CA413850392 | COL4A5 | c.3875A>G (p.Asn1292Ser) c.3857A>G (p.Asn1286Ser) n.369A>G n.278A>G c.3866A>G (p.Asn1289Ser) c.3551A>G (p.Asn1184Ser) c.1448A>G (p.Asn483Ser) c.3890A>G (p.Asn1297Ser) c.3881A>G (p.Asn1294Ser) c.3872A>G (p.Asn1291Ser) c.2210A>G (p.Asn737Ser) | |
| X | g.108677566A>T | CA413850394 | COL4A5 | c.3875A>T (p.Asn1292Ile) c.3857A>T (p.Asn1286Ile) n.369A>T n.278A>T c.3866A>T (p.Asn1289Ile) c.3551A>T (p.Asn1184Ile) c.1448A>T (p.Asn483Ile) c.3890A>T (p.Asn1297Ile) c.3881A>T (p.Asn1294Ile) c.3872A>T (p.Asn1291Ile) c.2210A>T (p.Asn737Ile) | gnomAD v4 |
| X | g.108677566_108677572del | CA2695235663 | COL4A5 | c.3875_3881del (p.Asn1292ThrfsTer11) c.3857_3863del (p.Asn1286ThrfsTer11) n.369_375del n.278_284del c.3866_3872del (p.Asn1289ThrfsTer11) c.3551_3557del (p.Asn1184ThrfsTer11) c.1448_1454del (p.Asn483ThrfsTer11) c.3890_3896del (p.Asn1297ThrfsTer11) c.3881_3887del (p.Asn1294ThrfsTer11) c.3872_3878del (p.Asn1291ThrfsTer11) c.2210_2216del (p.Asn737ThrfsTer11) | |
| X | g.108677567T>A | CA413850398 | COL4A5 | c.3876T>A (p.Asn1292Lys) c.3858T>A (p.Asn1286Lys) n.370T>A n.279T>A c.3867T>A (p.Asn1289Lys) c.3552T>A (p.Asn1184Lys) c.1449T>A (p.Asn483Lys) c.3891T>A (p.Asn1297Lys) c.3882T>A (p.Asn1294Lys) c.3873T>A (p.Asn1291Lys) c.2211T>A (p.Asn737Lys) | |
| X | g.108677567T>C | CA517923341 | COL4A5 | c.3876T>C (p.Asn1292=) c.3858T>C (p.Asn1286=) n.370T>C n.279T>C c.3867T>C (p.Asn1289=) c.3552T>C (p.Asn1184=) c.1449T>C (p.Asn483=) c.3891T>C (p.Asn1297=) c.3882T>C (p.Asn1294=) c.3873T>C (p.Asn1291=) c.2211T>C (p.Asn737=) | ClinVar |
| X | g.108677567T>G | CA413850399 | COL4A5 | c.3876T>G (p.Asn1292Lys) c.3858T>G (p.Asn1286Lys) n.370T>G n.279T>G c.3867T>G (p.Asn1289Lys) c.3552T>G (p.Asn1184Lys) c.1449T>G (p.Asn483Lys) c.3891T>G (p.Asn1297Lys) c.3882T>G (p.Asn1294Lys) c.3873T>G (p.Asn1291Lys) c.2211T>G (p.Asn737Lys) | |
| X | g.108677568C>A | CA413850400 | COL4A5 | c.3877C>A (p.Pro1293Thr) c.3859C>A (p.Pro1287Thr) n.371C>A n.280C>A c.3868C>A (p.Pro1290Thr) c.3553C>A (p.Pro1185Thr) c.1450C>A (p.Pro484Thr) c.3892C>A (p.Pro1298Thr) c.3883C>A (p.Pro1295Thr) c.3874C>A (p.Pro1292Thr) c.2212C>A (p.Pro738Thr) | |
| X | g.108677568C= | CA2450715778 | COL4A5 | c.3877C= (p.Pro1293=) c.3859C= (p.Pro1287=) n.371C= n.280C= c.3868C= (p.Pro1290=) c.3553C= (p.Pro1185=) c.1450C= (p.Pro484=) c.3892C= (p.Pro1298=) c.3883C= (p.Pro1295=) c.3874C= (p.Pro1292=) c.2212C= (p.Pro738=) | |
| X | g.108677568C>G | CA413850401 | COL4A5 | c.3877C>G (p.Pro1293Ala) c.3859C>G (p.Pro1287Ala) n.371C>G n.280C>G c.3868C>G (p.Pro1290Ala) c.3553C>G (p.Pro1185Ala) c.1450C>G (p.Pro484Ala) c.3892C>G (p.Pro1298Ala) c.3883C>G (p.Pro1295Ala) c.3874C>G (p.Pro1292Ala) c.2212C>G (p.Pro738Ala) | dbSNP |
| X | g.108677568C>T | CA413850403 | COL4A5 | c.3877C>T (p.Pro1293Ser) c.3859C>T (p.Pro1287Ser) n.371C>T n.280C>T c.3868C>T (p.Pro1290Ser) c.3553C>T (p.Pro1185Ser) c.1450C>T (p.Pro484Ser) c.3892C>T (p.Pro1298Ser) c.3883C>T (p.Pro1295Ser) c.3874C>T (p.Pro1292Ser) c.2212C>T (p.Pro738Ser) | |
| X | g.108677569C>A | CA413850407 | COL4A5 | c.3878C>A (p.Pro1293Gln) c.3860C>A (p.Pro1287Gln) n.372C>A n.281C>A c.3869C>A (p.Pro1290Gln) c.3554C>A (p.Pro1185Gln) c.1451C>A (p.Pro484Gln) c.3893C>A (p.Pro1298Gln) c.3884C>A (p.Pro1295Gln) c.3875C>A (p.Pro1292Gln) c.2213C>A (p.Pro738Gln) | |
| X | g.108677569C= | CA2450715779 | COL4A5 | c.3878C= (p.Pro1293=) c.3860C= (p.Pro1287=) n.372C= n.281C= c.3869C= (p.Pro1290=) c.3554C= (p.Pro1185=) c.1451C= (p.Pro484=) c.3893C= (p.Pro1298=) c.3884C= (p.Pro1295=) c.3875C= (p.Pro1292=) c.2213C= (p.Pro738=) | |
| X | g.108677569C>G | CA413850410 | COL4A5 | c.3878C>G (p.Pro1293Arg) c.3860C>G (p.Pro1287Arg) n.372C>G n.281C>G c.3869C>G (p.Pro1290Arg) c.3554C>G (p.Pro1185Arg) c.1451C>G (p.Pro484Arg) c.3893C>G (p.Pro1298Arg) c.3884C>G (p.Pro1295Arg) c.3875C>G (p.Pro1292Arg) c.2213C>G (p.Pro738Arg) | |
| X | g.108677569C>T | CA413850406 | COL4A5 | c.3878C>T (p.Pro1293Leu) c.3860C>T (p.Pro1287Leu) n.372C>T n.281C>T c.3869C>T (p.Pro1290Leu) c.3554C>T (p.Pro1185Leu) c.1451C>T (p.Pro484Leu) c.3893C>T (p.Pro1298Leu) c.3884C>T (p.Pro1295Leu) c.3875C>T (p.Pro1292Leu) c.2213C>T (p.Pro738Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108677570A>C | CA517923343 | COL4A5 | c.3879A>C (p.Pro1293=) c.3861A>C (p.Pro1287=) n.373A>C n.282A>C c.3870A>C (p.Pro1290=) c.3555A>C (p.Pro1185=) c.1452A>C (p.Pro484=) c.3894A>C (p.Pro1298=) c.3885A>C (p.Pro1295=) c.3876A>C (p.Pro1292=) c.2214A>C (p.Pro738=) | |
| X | g.108677570A>G | CA517923345 | COL4A5 | c.3879A>G (p.Pro1293=) c.3861A>G (p.Pro1287=) n.373A>G n.282A>G c.3870A>G (p.Pro1290=) c.3555A>G (p.Pro1185=) c.1452A>G (p.Pro484=) c.3894A>G (p.Pro1298=) c.3885A>G (p.Pro1295=) c.3876A>G (p.Pro1292=) c.2214A>G (p.Pro738=) | |
| X | g.108677570A>T | CA517923347 | COL4A5 | c.3879A>T (p.Pro1293=) c.3861A>T (p.Pro1287=) n.373A>T n.282A>T c.3870A>T (p.Pro1290=) c.3555A>T (p.Pro1185=) c.1452A>T (p.Pro484=) c.3894A>T (p.Pro1298=) c.3885A>T (p.Pro1295=) c.3876A>T (p.Pro1292=) c.2214A>T (p.Pro738=) | |
| X | g.108677570_108677571insC | CA2695235664 | COL4A5 | c.3879_3880insC (p.Gly1294ArgfsTer23) c.3861_3862insC (p.Gly1288ArgfsTer23) n.373_374insC n.282_283insC c.3870_3871insC (p.Gly1291ArgfsTer23) c.3555_3556insC (p.Gly1186ArgfsTer23) c.1452_1453insC (p.Gly485ArgfsTer23) c.3894_3895insC (p.Gly1299ArgfsTer23) c.3885_3886insC (p.Gly1296ArgfsTer23) c.3876_3877insC (p.Gly1293ArgfsTer23) c.3894_3895insC (p.Gly1299ArgfsTer24) c.2214_2215insC (p.Gly739ArgfsTer23) | |
| X | g.108677571G>A | CA413850412 | COL4A5 | c.3880G>A (p.Gly1294Ser) c.3862G>A (p.Gly1288Ser) n.374G>A n.283G>A c.3871G>A (p.Gly1291Ser) c.3556G>A (p.Gly1186Ser) c.1453G>A (p.Gly485Ser) c.3895G>A (p.Gly1299Ser) c.3886G>A (p.Gly1296Ser) c.3877G>A (p.Gly1293Ser) c.2215G>A (p.Gly739Ser) | |
| X | g.108677571G>C | CA413850413 | COL4A5 | c.3880G>C (p.Gly1294Arg) c.3862G>C (p.Gly1288Arg) n.374G>C n.283G>C c.3871G>C (p.Gly1291Arg) c.3556G>C (p.Gly1186Arg) c.1453G>C (p.Gly485Arg) c.3895G>C (p.Gly1299Arg) c.3886G>C (p.Gly1296Arg) c.3877G>C (p.Gly1293Arg) c.2215G>C (p.Gly739Arg) | |
| X | g.108677571G>T | CA413850415 | COL4A5 | c.3880G>T (p.Gly1294Cys) c.3862G>T (p.Gly1288Cys) n.374G>T n.283G>T c.3871G>T (p.Gly1291Cys) c.3556G>T (p.Gly1186Cys) c.1453G>T (p.Gly485Cys) c.3895G>T (p.Gly1299Cys) c.3886G>T (p.Gly1296Cys) c.3877G>T (p.Gly1293Cys) c.2215G>T (p.Gly739Cys) | |
| X | g.108677572G>A | CA413850425 | COL4A5 | c.3881G>A (p.Gly1294Asp) c.3863G>A (p.Gly1288Asp) n.375G>A n.284G>A c.3872G>A (p.Gly1291Asp) c.3557G>A (p.Gly1186Asp) c.1454G>A (p.Gly485Asp) c.3896G>A (p.Gly1299Asp) c.3887G>A (p.Gly1296Asp) c.3878G>A (p.Gly1293Asp) c.2216G>A (p.Gly739Asp) | |
| X | g.108677572G>C | CA413850427 | COL4A5 | c.3881G>C (p.Gly1294Ala) c.3863G>C (p.Gly1288Ala) n.375G>C n.284G>C c.3872G>C (p.Gly1291Ala) c.3557G>C (p.Gly1186Ala) c.1454G>C (p.Gly485Ala) c.3896G>C (p.Gly1299Ala) c.3887G>C (p.Gly1296Ala) c.3878G>C (p.Gly1293Ala) c.2216G>C (p.Gly739Ala) | |
| X | g.108677572G= | CA2450715780 | COL4A5 | c.3881G= (p.Gly1294=) c.3863G= (p.Gly1288=) n.375G= n.284G= c.3872G= (p.Gly1291=) c.3557G= (p.Gly1186=) c.1454G= (p.Gly485=) c.3896G= (p.Gly1299=) c.3887G= (p.Gly1296=) c.3878G= (p.Gly1293=) c.2216G= (p.Gly739=) | |
| X | g.108677572G>T | CA413850430 | COL4A5 | c.3881G>T (p.Gly1294Val) c.3863G>T (p.Gly1288Val) n.375G>T n.284G>T c.3872G>T (p.Gly1291Val) c.3557G>T (p.Gly1186Val) c.1454G>T (p.Gly485Val) c.3896G>T (p.Gly1299Val) c.3887G>T (p.Gly1296Val) c.3878G>T (p.Gly1293Val) c.2216G>T (p.Gly739Val) | COSMIC COSMIC |
| X | g.108677573C>A | CA517923349 | COL4A5 | c.3882C>A (p.Gly1294=) c.3864C>A (p.Gly1288=) n.376C>A n.285C>A c.3873C>A (p.Gly1291=) c.3558C>A (p.Gly1186=) c.1455C>A (p.Gly485=) c.3897C>A (p.Gly1299=) c.3888C>A (p.Gly1296=) c.3879C>A (p.Gly1293=) c.2217C>A (p.Gly739=) |