WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.108677525_108677532del | CA2695235660 | COL4A5 | c.3834_3841del (p.Gly1279TrpfsTer6) c.3816_3823del (p.Gly1273TrpfsTer6) n.328_335del n.237_244del c.3825_3832del (p.Gly1276TrpfsTer6) c.3510_3517del (p.Gly1171TrpfsTer6) c.1407_1414del (p.Gly470TrpfsTer6) c.3849_3856del (p.Gly1284TrpfsTer6) c.3840_3847del (p.Gly1281TrpfsTer6) c.3831_3838del (p.Gly1278TrpfsTer6) c.2169_2176del (p.Gly724TrpfsTer6) | |
| X | g.108677524del | CA258960 | COL4A5 | c.3833del (p.Pro1278GlnfsTer27) c.3815del (p.Pro1272GlnfsTer27) n.327del n.236del c.3824del (p.Pro1275GlnfsTer27) c.3509del (p.Pro1170GlnfsTer27) c.1406del (p.Pro469GlnfsTer27) c.3848del (p.Pro1283GlnfsTer27) c.3839del (p.Pro1280GlnfsTer27) c.3830del (p.Pro1277GlnfsTer27) c.2168del (p.Pro723GlnfsTer27) | dbSNP |
| X | g.108677524C>A | CA413850186 | COL4A5 | c.3833C>A (p.Pro1278Gln) c.3815C>A (p.Pro1272Gln) n.327C>A n.236C>A c.3824C>A (p.Pro1275Gln) c.3509C>A (p.Pro1170Gln) c.1406C>A (p.Pro469Gln) c.3848C>A (p.Pro1283Gln) c.3839C>A (p.Pro1280Gln) c.3830C>A (p.Pro1277Gln) c.2168C>A (p.Pro723Gln) | |
| X | g.108677524C= | CA2450715763 | COL4A5 | c.3833C= (p.Pro1278=) c.3815C= (p.Pro1272=) n.327C= n.236C= c.3824C= (p.Pro1275=) c.3509C= (p.Pro1170=) c.1406C= (p.Pro469=) c.3848C= (p.Pro1283=) c.3839C= (p.Pro1280=) c.3830C= (p.Pro1277=) c.2168C= (p.Pro723=) | |
| X | g.108677524C>G | CA413850188 | COL4A5 | c.3833C>G (p.Pro1278Arg) c.3815C>G (p.Pro1272Arg) n.327C>G n.236C>G c.3824C>G (p.Pro1275Arg) c.3509C>G (p.Pro1170Arg) c.1406C>G (p.Pro469Arg) c.3848C>G (p.Pro1283Arg) c.3839C>G (p.Pro1280Arg) c.3830C>G (p.Pro1277Arg) c.2168C>G (p.Pro723Arg) | |
| X | g.108677524C>T | CA413850191 | COL4A5 | c.3833C>T (p.Pro1278Leu) c.3815C>T (p.Pro1272Leu) n.327C>T n.236C>T c.3824C>T (p.Pro1275Leu) c.3509C>T (p.Pro1170Leu) c.1406C>T (p.Pro469Leu) c.3848C>T (p.Pro1283Leu) c.3839C>T (p.Pro1280Leu) c.3830C>T (p.Pro1277Leu) c.2168C>T (p.Pro723Leu) | dbSNP gnomAD v2 |
| X | g.108677525A>C | CA517923293 | COL4A5 | c.3834A>C (p.Pro1278=) c.3816A>C (p.Pro1272=) n.328A>C n.237A>C c.3825A>C (p.Pro1275=) c.3510A>C (p.Pro1170=) c.1407A>C (p.Pro469=) c.3849A>C (p.Pro1283=) c.3840A>C (p.Pro1280=) c.3831A>C (p.Pro1277=) c.2169A>C (p.Pro723=) | gnomAD v4 |
| X | g.108677525A>G | CA517923294 | COL4A5 | c.3834A>G (p.Pro1278=) c.3816A>G (p.Pro1272=) n.328A>G n.237A>G c.3825A>G (p.Pro1275=) c.3510A>G (p.Pro1170=) c.1407A>G (p.Pro469=) c.3849A>G (p.Pro1283=) c.3840A>G (p.Pro1280=) c.3831A>G (p.Pro1277=) c.2169A>G (p.Pro723=) | |
| X | g.108677525A>T | CA517923295 | COL4A5 | c.3834A>T (p.Pro1278=) c.3816A>T (p.Pro1272=) n.328A>T n.237A>T c.3825A>T (p.Pro1275=) c.3510A>T (p.Pro1170=) c.1407A>T (p.Pro469=) c.3849A>T (p.Pro1283=) c.3840A>T (p.Pro1280=) c.3831A>T (p.Pro1277=) c.2169A>T (p.Pro723=) | |
| X | g.108677526G>A | CA413850194 | COL4A5 | c.3835G>A (p.Gly1279Ser) c.3817G>A (p.Gly1273Ser) n.329G>A n.238G>A c.3826G>A (p.Gly1276Ser) c.3511G>A (p.Gly1171Ser) c.1408G>A (p.Gly470Ser) c.3850G>A (p.Gly1284Ser) c.3841G>A (p.Gly1281Ser) c.3832G>A (p.Gly1278Ser) c.2170G>A (p.Gly724Ser) | COSMIC COSMIC |
| X | g.108677526G>C | CA413850196 | COL4A5 | c.3835G>C (p.Gly1279Arg) c.3817G>C (p.Gly1273Arg) n.329G>C n.238G>C c.3826G>C (p.Gly1276Arg) c.3511G>C (p.Gly1171Arg) c.1408G>C (p.Gly470Arg) c.3850G>C (p.Gly1284Arg) c.3841G>C (p.Gly1281Arg) c.3832G>C (p.Gly1278Arg) c.2170G>C (p.Gly724Arg) | |
| X | g.108677526G>T | CA413850199 | COL4A5 | c.3835G>T (p.Gly1279Cys) c.3817G>T (p.Gly1273Cys) n.329G>T n.238G>T c.3826G>T (p.Gly1276Cys) c.3511G>T (p.Gly1171Cys) c.1408G>T (p.Gly470Cys) c.3850G>T (p.Gly1284Cys) c.3841G>T (p.Gly1281Cys) c.3832G>T (p.Gly1278Cys) c.2170G>T (p.Gly724Cys) | |
| X | g.108677527G>A | CA413850212 | COL4A5 | c.3836G>A (p.Gly1279Asp) c.3818G>A (p.Gly1273Asp) n.330G>A n.239G>A c.3827G>A (p.Gly1276Asp) c.3512G>A (p.Gly1171Asp) c.1409G>A (p.Gly470Asp) c.3851G>A (p.Gly1284Asp) c.3842G>A (p.Gly1281Asp) c.3833G>A (p.Gly1278Asp) c.2171G>A (p.Gly724Asp) | gnomAD v4 |
| X | g.108677527G>C | CA413850215 | COL4A5 | c.3836G>C (p.Gly1279Ala) c.3818G>C (p.Gly1273Ala) n.330G>C n.239G>C c.3827G>C (p.Gly1276Ala) c.3512G>C (p.Gly1171Ala) c.1409G>C (p.Gly470Ala) c.3851G>C (p.Gly1284Ala) c.3842G>C (p.Gly1281Ala) c.3833G>C (p.Gly1278Ala) c.2171G>C (p.Gly724Ala) | |
| X | g.108677527G= | CA2450715764 | COL4A5 | c.3836G= (p.Gly1279=) c.3818G= (p.Gly1273=) n.330G= n.239G= c.3827G= (p.Gly1276=) c.3512G= (p.Gly1171=) c.1409G= (p.Gly470=) c.3851G= (p.Gly1284=) c.3842G= (p.Gly1281=) c.3833G= (p.Gly1278=) c.2171G= (p.Gly724=) | |
| X | g.108677527G>T | CA413850209 | COL4A5 | c.3836G>T (p.Gly1279Val) c.3818G>T (p.Gly1273Val) n.330G>T n.239G>T c.3827G>T (p.Gly1276Val) c.3512G>T (p.Gly1171Val) c.1409G>T (p.Gly470Val) c.3851G>T (p.Gly1284Val) c.3842G>T (p.Gly1281Val) c.3833G>T (p.Gly1278Val) c.2171G>T (p.Gly724Val) | dbSNP |
| X | g.108677528T>A | CA517923296 | COL4A5 | c.3837T>A (p.Gly1279=) c.3819T>A (p.Gly1273=) n.331T>A n.240T>A c.3828T>A (p.Gly1276=) c.3513T>A (p.Gly1171=) c.1410T>A (p.Gly470=) c.3852T>A (p.Gly1284=) c.3843T>A (p.Gly1281=) c.3834T>A (p.Gly1278=) c.2172T>A (p.Gly724=) | |
| X | g.108677528T>C | CA10489232 | COL4A5 | c.3837T>C (p.Gly1279=) c.3819T>C (p.Gly1273=) n.331T>C n.240T>C c.3828T>C (p.Gly1276=) c.3513T>C (p.Gly1171=) c.1410T>C (p.Gly470=) c.3852T>C (p.Gly1284=) c.3843T>C (p.Gly1281=) c.3834T>C (p.Gly1278=) c.2172T>C (p.Gly724=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.108677528T>G | CA517923297 | COL4A5 | c.3837T>G (p.Gly1279=) c.3819T>G (p.Gly1273=) n.331T>G n.240T>G c.3828T>G (p.Gly1276=) c.3513T>G (p.Gly1171=) c.1410T>G (p.Gly470=) c.3852T>G (p.Gly1284=) c.3843T>G (p.Gly1281=) c.3834T>G (p.Gly1278=) c.2172T>G (p.Gly724=) | |
| X | g.108677528T= | CA2450715765 | COL4A5 | c.3837T= (p.Gly1279=) c.3819T= (p.Gly1273=) n.331T= n.240T= c.3828T= (p.Gly1276=) c.3513T= (p.Gly1171=) c.1410T= (p.Gly470=) c.3852T= (p.Gly1284=) c.3843T= (p.Gly1281=) c.3834T= (p.Gly1278=) c.2172T= (p.Gly724=) | |
| X | g.108677529C>A | CA413850225 | COL4A5 | c.3838C>A (p.Leu1280Ile) c.3820C>A (p.Leu1274Ile) n.332C>A n.241C>A c.3829C>A (p.Leu1277Ile) c.3514C>A (p.Leu1172Ile) c.1411C>A (p.Leu471Ile) c.3853C>A (p.Leu1285Ile) c.3844C>A (p.Leu1282Ile) c.3835C>A (p.Leu1279Ile) c.2173C>A (p.Leu725Ile) | gnomAD v4 |
| X | g.108677529C= | CA2450715766 | COL4A5 | c.3838C= (p.Leu1280=) c.3820C= (p.Leu1274=) n.332C= n.241C= c.3829C= (p.Leu1277=) c.3514C= (p.Leu1172=) c.1411C= (p.Leu471=) c.3853C= (p.Leu1285=) c.3844C= (p.Leu1282=) c.3835C= (p.Leu1279=) c.2173C= (p.Leu725=) | |
| X | g.108677529C>G | CA413850228 | COL4A5 | c.3838C>G (p.Leu1280Val) c.3820C>G (p.Leu1274Val) n.332C>G n.241C>G c.3829C>G (p.Leu1277Val) c.3514C>G (p.Leu1172Val) c.1411C>G (p.Leu471Val) c.3853C>G (p.Leu1285Val) c.3844C>G (p.Leu1282Val) c.3835C>G (p.Leu1279Val) c.2173C>G (p.Leu725Val) | |
| X | g.108677529C>T | CA10489233 | COL4A5 | c.3838C>T (p.Leu1280Phe) c.3820C>T (p.Leu1274Phe) n.332C>T n.241C>T c.3829C>T (p.Leu1277Phe) c.3514C>T (p.Leu1172Phe) c.1411C>T (p.Leu471Phe) c.3853C>T (p.Leu1285Phe) c.3844C>T (p.Leu1282Phe) c.3835C>T (p.Leu1279Phe) c.2173C>T (p.Leu725Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108677530T>A | CA413850237 | COL4A5 | c.3839T>A (p.Leu1280His) c.3821T>A (p.Leu1274His) n.333T>A n.242T>A c.3830T>A (p.Leu1277His) c.3515T>A (p.Leu1172His) c.1412T>A (p.Leu471His) c.3854T>A (p.Leu1285His) c.3845T>A (p.Leu1282His) c.3836T>A (p.Leu1279His) c.2174T>A (p.Leu725His) | |
| X | g.108677530T>C | CA413850252 | COL4A5 | c.3839T>C (p.Leu1280Pro) c.3821T>C (p.Leu1274Pro) n.333T>C n.242T>C c.3830T>C (p.Leu1277Pro) c.3515T>C (p.Leu1172Pro) c.1412T>C (p.Leu471Pro) c.3854T>C (p.Leu1285Pro) c.3845T>C (p.Leu1282Pro) c.3836T>C (p.Leu1279Pro) c.2174T>C (p.Leu725Pro) | |
| X | g.108677530T>G | CA413850249 | COL4A5 | c.3839T>G (p.Leu1280Arg) c.3821T>G (p.Leu1274Arg) n.333T>G n.242T>G c.3830T>G (p.Leu1277Arg) c.3515T>G (p.Leu1172Arg) c.1412T>G (p.Leu471Arg) c.3854T>G (p.Leu1285Arg) c.3845T>G (p.Leu1282Arg) c.3836T>G (p.Leu1279Arg) c.2174T>G (p.Leu725Arg) | |
| X | g.108677531C>A | CA517923298 | COL4A5 | c.3840C>A (p.Leu1280=) c.3822C>A (p.Leu1274=) n.334C>A n.243C>A c.3831C>A (p.Leu1277=) c.3516C>A (p.Leu1172=) c.1413C>A (p.Leu471=) c.3855C>A (p.Leu1285=) c.3846C>A (p.Leu1282=) c.3837C>A (p.Leu1279=) c.2175C>A (p.Leu725=) | |
| X | g.108677531C= | CA2450715767 | COL4A5 | c.3840C= (p.Leu1280=) c.3822C= (p.Leu1274=) n.334C= n.243C= c.3831C= (p.Leu1277=) c.3516C= (p.Leu1172=) c.1413C= (p.Leu471=) c.3855C= (p.Leu1285=) c.3846C= (p.Leu1282=) c.3837C= (p.Leu1279=) c.2175C= (p.Leu725=) | |
| X | g.108677531C>G | CA517923300 | COL4A5 | c.3840C>G (p.Leu1280=) c.3822C>G (p.Leu1274=) n.334C>G n.243C>G c.3831C>G (p.Leu1277=) c.3516C>G (p.Leu1172=) c.1413C>G (p.Leu471=) c.3855C>G (p.Leu1285=) c.3846C>G (p.Leu1282=) c.3837C>G (p.Leu1279=) c.2175C>G (p.Leu725=) | ClinVar |
| X | g.108677531C>T | CA517923299 | COL4A5 | c.3840C>T (p.Leu1280=) c.3822C>T (p.Leu1274=) n.334C>T n.243C>T c.3831C>T (p.Leu1277=) c.3516C>T (p.Leu1172=) c.1413C>T (p.Leu471=) c.3855C>T (p.Leu1285=) c.3846C>T (p.Leu1282=) c.3837C>T (p.Leu1279=) c.2175C>T (p.Leu725=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108677532C>A | CA413850256 | COL4A5 | c.3841C>A (p.Pro1281Thr) c.3823C>A (p.Pro1275Thr) n.335C>A n.244C>A c.3832C>A (p.Pro1278Thr) c.3517C>A (p.Pro1173Thr) c.1414C>A (p.Pro472Thr) c.3856C>A (p.Pro1286Thr) c.3847C>A (p.Pro1283Thr) c.3838C>A (p.Pro1280Thr) c.2176C>A (p.Pro726Thr) | |
| X | g.108677532C>G | CA413850261 | COL4A5 | c.3841C>G (p.Pro1281Ala) c.3823C>G (p.Pro1275Ala) n.335C>G n.244C>G c.3832C>G (p.Pro1278Ala) c.3517C>G (p.Pro1173Ala) c.1414C>G (p.Pro472Ala) c.3856C>G (p.Pro1286Ala) c.3847C>G (p.Pro1283Ala) c.3838C>G (p.Pro1280Ala) c.2176C>G (p.Pro726Ala) | |
| X | g.108677532C>T | CA413850259 | COL4A5 | c.3841C>T (p.Pro1281Ser) c.3823C>T (p.Pro1275Ser) n.335C>T n.244C>T c.3832C>T (p.Pro1278Ser) c.3517C>T (p.Pro1173Ser) c.1414C>T (p.Pro472Ser) c.3856C>T (p.Pro1286Ser) c.3847C>T (p.Pro1283Ser) c.3838C>T (p.Pro1280Ser) c.2176C>T (p.Pro726Ser) | |
| X | g.108677533C>A | CA413850262 | COL4A5 | c.3842C>A (p.Pro1281His) c.3824C>A (p.Pro1275His) n.336C>A n.245C>A c.3833C>A (p.Pro1278His) c.3518C>A (p.Pro1173His) c.1415C>A (p.Pro472His) c.3857C>A (p.Pro1286His) c.3848C>A (p.Pro1283His) c.3839C>A (p.Pro1280His) c.2177C>A (p.Pro726His) | |
| X | g.108677533C>G | CA413850263 | COL4A5 | c.3842C>G (p.Pro1281Arg) c.3824C>G (p.Pro1275Arg) n.336C>G n.245C>G c.3833C>G (p.Pro1278Arg) c.3518C>G (p.Pro1173Arg) c.1415C>G (p.Pro472Arg) c.3857C>G (p.Pro1286Arg) c.3848C>G (p.Pro1283Arg) c.3839C>G (p.Pro1280Arg) c.2177C>G (p.Pro726Arg) | |
| X | g.108677533C>T | CA413850264 | COL4A5 | c.3842C>T (p.Pro1281Leu) c.3824C>T (p.Pro1275Leu) n.336C>T n.245C>T c.3833C>T (p.Pro1278Leu) c.3518C>T (p.Pro1173Leu) c.1415C>T (p.Pro472Leu) c.3857C>T (p.Pro1286Leu) c.3848C>T (p.Pro1283Leu) c.3839C>T (p.Pro1280Leu) c.2177C>T (p.Pro726Leu) | |
| X | g.108677534T>A | CA517923301 | COL4A5 | c.3843T>A (p.Pro1281=) c.3825T>A (p.Pro1275=) n.337T>A n.246T>A c.3834T>A (p.Pro1278=) c.3519T>A (p.Pro1173=) c.1416T>A (p.Pro472=) c.3858T>A (p.Pro1286=) c.3849T>A (p.Pro1283=) c.3840T>A (p.Pro1280=) c.2178T>A (p.Pro726=) | |
| X | g.108677534T>C | CA517923303 | COL4A5 | c.3843T>C (p.Pro1281=) c.3825T>C (p.Pro1275=) n.337T>C n.246T>C c.3834T>C (p.Pro1278=) c.3519T>C (p.Pro1173=) c.1416T>C (p.Pro472=) c.3858T>C (p.Pro1286=) c.3849T>C (p.Pro1283=) c.3840T>C (p.Pro1280=) c.2178T>C (p.Pro726=) | |
| X | g.108677534T>G | CA517923304 | COL4A5 | c.3843T>G (p.Pro1281=) c.3825T>G (p.Pro1275=) n.337T>G n.246T>G c.3834T>G (p.Pro1278=) c.3519T>G (p.Pro1173=) c.1416T>G (p.Pro472=) c.3858T>G (p.Pro1286=) c.3849T>G (p.Pro1283=) c.3840T>G (p.Pro1280=) c.2178T>G (p.Pro726=) | |
| X | g.108677535G>A | CA413850265 | COL4A5 | c.3844G>A (p.Gly1282Arg) c.3826G>A (p.Gly1276Arg) n.338G>A n.247G>A c.3835G>A (p.Gly1279Arg) c.3520G>A (p.Gly1174Arg) c.1417G>A (p.Gly473Arg) c.3859G>A (p.Gly1287Arg) c.3850G>A (p.Gly1284Arg) c.3841G>A (p.Gly1281Arg) c.2179G>A (p.Gly727Arg) | ClinVar dbSNP |
| X | g.108677535G>C | CA413850267 | COL4A5 | c.3844G>C (p.Gly1282Arg) c.3826G>C (p.Gly1276Arg) n.338G>C n.247G>C c.3835G>C (p.Gly1279Arg) c.3520G>C (p.Gly1174Arg) c.1417G>C (p.Gly473Arg) c.3859G>C (p.Gly1287Arg) c.3850G>C (p.Gly1284Arg) c.3841G>C (p.Gly1281Arg) c.2179G>C (p.Gly727Arg) | |
| X | g.108677535G= | CA2450715768 | COL4A5 | c.3844G= (p.Gly1282=) c.3826G= (p.Gly1276=) n.338G= n.247G= c.3835G= (p.Gly1279=) c.3520G= (p.Gly1174=) c.1417G= (p.Gly473=) c.3859G= (p.Gly1287=) c.3850G= (p.Gly1284=) c.3841G= (p.Gly1281=) c.2179G= (p.Gly727=) | |
| X | g.108677535G>T | CA413850269 | COL4A5 | c.3844G>T (p.Gly1282Ter) c.3826G>T (p.Gly1276Ter) n.338G>T n.247G>T c.3835G>T (p.Gly1279Ter) c.3520G>T (p.Gly1174Ter) c.1417G>T (p.Gly473Ter) c.3859G>T (p.Gly1287Ter) c.3850G>T (p.Gly1284Ter) c.3841G>T (p.Gly1281Ter) c.2179G>T (p.Gly727Ter) | |
| X | g.108677536G>A | CA10489234 | COL4A5 | c.3845G>A (p.Gly1282Glu) c.3827G>A (p.Gly1276Glu) n.339G>A n.248G>A c.3836G>A (p.Gly1279Glu) c.3521G>A (p.Gly1174Glu) c.1418G>A (p.Gly473Glu) c.3860G>A (p.Gly1287Glu) c.3851G>A (p.Gly1284Glu) c.3842G>A (p.Gly1281Glu) c.2180G>A (p.Gly727Glu) | dbSNP ExAC gnomAD v2 |
| X | g.108677536G>C | CA413850270 | COL4A5 | c.3845G>C (p.Gly1282Ala) c.3827G>C (p.Gly1276Ala) n.339G>C n.248G>C c.3836G>C (p.Gly1279Ala) c.3521G>C (p.Gly1174Ala) c.1418G>C (p.Gly473Ala) c.3860G>C (p.Gly1287Ala) c.3851G>C (p.Gly1284Ala) c.3842G>C (p.Gly1281Ala) c.2180G>C (p.Gly727Ala) | |
| X | g.108677536G= | CA2450715769 | COL4A5 | c.3845G= (p.Gly1282=) c.3827G= (p.Gly1276=) n.339G= n.248G= c.3836G= (p.Gly1279=) c.3521G= (p.Gly1174=) c.1418G= (p.Gly473=) c.3860G= (p.Gly1287=) c.3851G= (p.Gly1284=) c.3842G= (p.Gly1281=) c.2180G= (p.Gly727=) |