UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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=) | |
| X | g.108677573C>G | CA517923351 | COL4A5 | c.3882C>G (p.Gly1294=) c.3864C>G (p.Gly1288=) n.376C>G n.285C>G c.3873C>G (p.Gly1291=) c.3558C>G (p.Gly1186=) c.1455C>G (p.Gly485=) c.3897C>G (p.Gly1299=) c.3888C>G (p.Gly1296=) c.3879C>G (p.Gly1293=) c.2217C>G (p.Gly739=) | |
| X | g.108677573C>T | CA517923353 | COL4A5 | c.3882C>T (p.Gly1294=) c.3864C>T (p.Gly1288=) n.376C>T n.285C>T c.3873C>T (p.Gly1291=) c.3558C>T (p.Gly1186=) c.1455C>T (p.Gly485=) c.3897C>T (p.Gly1299=) c.3888C>T (p.Gly1296=) c.3879C>T (p.Gly1293=) c.2217C>T (p.Gly739=) | COSMIC COSMIC |
| X | g.108677575_108677578dup | CA258961 | COL4A5 | c.3884_3887dup (p.Gly1297ThrfsTer21) c.3866_3869dup (p.Gly1291ThrfsTer21) n.378_381dup n.287_290dup c.3875_3878dup (p.Gly1294ThrfsTer21) c.3560_3563dup (p.Gly1189ThrfsTer21) c.1457_1460dup (p.Gly488ThrfsTer21) c.3899_3902dup (p.Gly1302ThrfsTer21) c.3890_3893dup (p.Gly1299ThrfsTer21) c.3881_3884dup (p.Gly1296ThrfsTer21) c.3899_3902dup (p.Gly1302ThrfsTer22) c.2219_2222dup (p.Gly742ThrfsTer21) | dbSNP |
| X | g.108677574C>A | CA413850433 | COL4A5 | c.3883C>A (p.Gln1295Lys) c.3865C>A (p.Gln1289Lys) n.377C>A n.286C>A c.3874C>A (p.Gln1292Lys) c.3559C>A (p.Gln1187Lys) c.1456C>A (p.Gln486Lys) c.3898C>A (p.Gln1300Lys) c.3889C>A (p.Gln1297Lys) c.3880C>A (p.Gln1294Lys) c.2218C>A (p.Gln740Lys) | |
| X | g.108677574C= | CA2450715781 | COL4A5 | c.3883C= (p.Gln1295=) c.3865C= (p.Gln1289=) n.377C= n.286C= c.3874C= (p.Gln1292=) c.3559C= (p.Gln1187=) c.1456C= (p.Gln486=) c.3898C= (p.Gln1300=) c.3889C= (p.Gln1297=) c.3880C= (p.Gln1294=) c.2218C= (p.Gln740=) | |
| X | g.108677574C>G | CA413850435 | COL4A5 | c.3883C>G (p.Gln1295Glu) c.3865C>G (p.Gln1289Glu) n.377C>G n.286C>G c.3874C>G (p.Gln1292Glu) c.3559C>G (p.Gln1187Glu) c.1456C>G (p.Gln486Glu) c.3898C>G (p.Gln1300Glu) c.3889C>G (p.Gln1297Glu) c.3880C>G (p.Gln1294Glu) c.2218C>G (p.Gln740Glu) | |
| X | g.108677574C>T | CA413850436 | COL4A5 | c.3883C>T (p.Gln1295Ter) c.3865C>T (p.Gln1289Ter) n.377C>T n.286C>T c.3874C>T (p.Gln1292Ter) c.3559C>T (p.Gln1187Ter) c.1456C>T (p.Gln486Ter) c.3898C>T (p.Gln1300Ter) c.3889C>T (p.Gln1297Ter) c.3880C>T (p.Gln1294Ter) c.2218C>T (p.Gln740Ter) | ClinVar dbSNP |
| X | g.108677575A>C | CA413850439 | COL4A5 | c.3884A>C (p.Gln1295Pro) c.3866A>C (p.Gln1289Pro) n.378A>C n.287A>C c.3875A>C (p.Gln1292Pro) c.3560A>C (p.Gln1187Pro) c.1457A>C (p.Gln486Pro) c.3899A>C (p.Gln1300Pro) c.3890A>C (p.Gln1297Pro) c.3881A>C (p.Gln1294Pro) c.2219A>C (p.Gln740Pro) | |
| X | g.108677575A>G | CA413850441 | COL4A5 | c.3884A>G (p.Gln1295Arg) c.3866A>G (p.Gln1289Arg) n.378A>G n.287A>G c.3875A>G (p.Gln1292Arg) c.3560A>G (p.Gln1187Arg) c.1457A>G (p.Gln486Arg) c.3899A>G (p.Gln1300Arg) c.3890A>G (p.Gln1297Arg) c.3881A>G (p.Gln1294Arg) c.2219A>G (p.Gln740Arg) | |
| X | g.108677575A>T | CA413850442 | COL4A5 | c.3884A>T (p.Gln1295Leu) c.3866A>T (p.Gln1289Leu) n.378A>T n.287A>T c.3875A>T (p.Gln1292Leu) c.3560A>T (p.Gln1187Leu) c.1457A>T (p.Gln486Leu) c.3899A>T (p.Gln1300Leu) c.3890A>T (p.Gln1297Leu) c.3881A>T (p.Gln1294Leu) c.2219A>T (p.Gln740Leu) | |
| X | g.108677576A= | CA2450715782 | COL4A5 | c.3885A= (p.Gln1295=) c.3867A= (p.Gln1289=) n.379A= n.288A= c.3876A= (p.Gln1292=) c.3561A= (p.Gln1187=) c.1458A= (p.Gln486=) c.3900A= (p.Gln1300=) c.3891A= (p.Gln1297=) c.3882A= (p.Gln1294=) c.2220A= (p.Gln740=) | |
| X | g.108677576A>C | CA413850448 | COL4A5 | c.3885A>C (p.Gln1295His) c.3867A>C (p.Gln1289His) n.379A>C n.288A>C c.3876A>C (p.Gln1292His) c.3561A>C (p.Gln1187His) c.1458A>C (p.Gln486His) c.3900A>C (p.Gln1300His) c.3891A>C (p.Gln1297His) c.3882A>C (p.Gln1294His) c.2220A>C (p.Gln740His) | |
| X | g.108677576A>G | CA517923355 | COL4A5 | c.3885A>G (p.Gln1295=) c.3867A>G (p.Gln1289=) n.379A>G n.288A>G c.3876A>G (p.Gln1292=) c.3561A>G (p.Gln1187=) c.1458A>G (p.Gln486=) c.3900A>G (p.Gln1300=) c.3891A>G (p.Gln1297=) c.3882A>G (p.Gln1294=) c.2220A>G (p.Gln740=) | dbSNP gnomAD v4 |
| X | g.108677576A>T | CA413850446 | COL4A5 | c.3885A>T (p.Gln1295His) c.3867A>T (p.Gln1289His) n.379A>T n.288A>T c.3876A>T (p.Gln1292His) c.3561A>T (p.Gln1187His) c.1458A>T (p.Gln486His) c.3900A>T (p.Gln1300His) c.3891A>T (p.Gln1297His) c.3882A>T (p.Gln1294His) c.2220A>T (p.Gln740His) | |
| X | g.108677577C>A | CA413850449 | COL4A5 | c.3886C>A (p.Pro1296Thr) c.3868C>A (p.Pro1290Thr) n.380C>A n.289C>A c.3877C>A (p.Pro1293Thr) c.3562C>A (p.Pro1188Thr) c.1459C>A (p.Pro487Thr) c.3901C>A (p.Pro1301Thr) c.3892C>A (p.Pro1298Thr) c.3883C>A (p.Pro1295Thr) c.2221C>A (p.Pro741Thr) | |
| X | g.108677577C= | CA2450715783 | COL4A5 | c.3886C= (p.Pro1296=) c.3868C= (p.Pro1290=) n.380C= n.289C= c.3877C= (p.Pro1293=) c.3562C= (p.Pro1188=) c.1459C= (p.Pro487=) c.3901C= (p.Pro1301=) c.3892C= (p.Pro1298=) c.3883C= (p.Pro1295=) c.2221C= (p.Pro741=) | |
| X | g.108677577C>G | CA413850450 | COL4A5 | c.3886C>G (p.Pro1296Ala) c.3868C>G (p.Pro1290Ala) n.380C>G n.289C>G c.3877C>G (p.Pro1293Ala) c.3562C>G (p.Pro1188Ala) c.1459C>G (p.Pro487Ala) c.3901C>G (p.Pro1301Ala) c.3892C>G (p.Pro1298Ala) c.3883C>G (p.Pro1295Ala) c.2221C>G (p.Pro741Ala) | gnomAD v4 |
| X | g.108677577C>T | CA413850452 | COL4A5 | c.3886C>T (p.Pro1296Ser) c.3868C>T (p.Pro1290Ser) n.380C>T n.289C>T c.3877C>T (p.Pro1293Ser) c.3562C>T (p.Pro1188Ser) c.1459C>T (p.Pro487Ser) c.3901C>T (p.Pro1301Ser) c.3892C>T (p.Pro1298Ser) c.3883C>T (p.Pro1295Ser) c.2221C>T (p.Pro741Ser) | dbSNP gnomAD v2 |
| X | g.108677578C>A | CA413850455 | COL4A5 | c.3887C>A (p.Pro1296His) c.3869C>A (p.Pro1290His) n.381C>A n.290C>A c.3878C>A (p.Pro1293His) c.3563C>A (p.Pro1188His) c.1460C>A (p.Pro487His) c.3902C>A (p.Pro1301His) c.3893C>A (p.Pro1298His) c.3884C>A (p.Pro1295His) c.2222C>A (p.Pro741His) | |
| X | g.108677578C= | CA2450715784 | COL4A5 | c.3887C= (p.Pro1296=) c.3869C= (p.Pro1290=) n.381C= n.290C= c.3878C= (p.Pro1293=) c.3563C= (p.Pro1188=) c.1460C= (p.Pro487=) c.3902C= (p.Pro1301=) c.3893C= (p.Pro1298=) c.3884C= (p.Pro1295=) c.2222C= (p.Pro741=) | |
| X | g.108677578C>G | CA413850456 | COL4A5 | c.3887C>G (p.Pro1296Arg) c.3869C>G (p.Pro1290Arg) n.381C>G n.290C>G c.3878C>G (p.Pro1293Arg) c.3563C>G (p.Pro1188Arg) c.1460C>G (p.Pro487Arg) c.3902C>G (p.Pro1301Arg) c.3893C>G (p.Pro1298Arg) c.3884C>G (p.Pro1295Arg) c.2222C>G (p.Pro741Arg) | |
| X | g.108677578C>T | CA10489237 | COL4A5 | c.3887C>T (p.Pro1296Leu) c.3869C>T (p.Pro1290Leu) n.381C>T n.290C>T c.3878C>T (p.Pro1293Leu) c.3563C>T (p.Pro1188Leu) c.1460C>T (p.Pro487Leu) c.3902C>T (p.Pro1301Leu) c.3893C>T (p.Pro1298Leu) c.3884C>T (p.Pro1295Leu) c.2222C>T (p.Pro741Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108677579T>A | CA517923358 | COL4A5 | c.3888T>A (p.Pro1296=) c.3870T>A (p.Pro1290=) n.382T>A n.291T>A c.3879T>A (p.Pro1293=) c.3564T>A (p.Pro1188=) c.1461T>A (p.Pro487=) c.3903T>A (p.Pro1301=) c.3894T>A (p.Pro1298=) c.3885T>A (p.Pro1295=) c.2223T>A (p.Pro741=) | |
| X | g.108677579T>C | CA517923362 | COL4A5 | c.3888T>C (p.Pro1296=) c.3870T>C (p.Pro1290=) n.382T>C n.291T>C c.3879T>C (p.Pro1293=) c.3564T>C (p.Pro1188=) c.1461T>C (p.Pro487=) c.3903T>C (p.Pro1301=) c.3894T>C (p.Pro1298=) c.3885T>C (p.Pro1295=) c.2223T>C (p.Pro741=) | |
| X | g.108677579T>G | CA517923360 | COL4A5 | c.3888T>G (p.Pro1296=) c.3870T>G (p.Pro1290=) n.382T>G n.291T>G c.3879T>G (p.Pro1293=) c.3564T>G (p.Pro1188=) c.1461T>G (p.Pro487=) c.3903T>G (p.Pro1301=) c.3894T>G (p.Pro1298=) c.3885T>G (p.Pro1295=) c.2223T>G (p.Pro741=) | |
| X | g.108677580G>A | CA413850464 | COL4A5 | c.3889G>A (p.Gly1297Arg) c.3871G>A (p.Gly1291Arg) n.383G>A n.292G>A c.3880G>A (p.Gly1294Arg) c.3565G>A (p.Gly1189Arg) c.1462G>A (p.Gly488Arg) c.3904G>A (p.Gly1302Arg) c.3895G>A (p.Gly1299Arg) c.3886G>A (p.Gly1296Arg) c.2224G>A (p.Gly742Arg) | |
| X | g.108677580G>C | CA413850460 | COL4A5 | c.3889G>C (p.Gly1297Arg) c.3871G>C (p.Gly1291Arg) n.383G>C n.292G>C c.3880G>C (p.Gly1294Arg) c.3565G>C (p.Gly1189Arg) c.1462G>C (p.Gly488Arg) c.3904G>C (p.Gly1302Arg) c.3895G>C (p.Gly1299Arg) c.3886G>C (p.Gly1296Arg) c.2224G>C (p.Gly742Arg) | |
| X | g.108677580G>T | CA413850462 | COL4A5 | c.3889G>T (p.Gly1297Trp) c.3871G>T (p.Gly1291Trp) n.383G>T n.292G>T c.3880G>T (p.Gly1294Trp) c.3565G>T (p.Gly1189Trp) c.1462G>T (p.Gly488Trp) c.3904G>T (p.Gly1302Trp) c.3895G>T (p.Gly1299Trp) c.3886G>T (p.Gly1296Trp) c.2224G>T (p.Gly742Trp) | |
| X | g.108677582dup | CA2695235665 | COL4A5 | c.3891dup (p.Leu1298AlafsTer19) c.3873dup (p.Leu1292AlafsTer19) n.385dup n.294dup c.3882dup (p.Leu1295AlafsTer19) c.3567dup (p.Leu1190AlafsTer19) c.1464dup (p.Leu489AlafsTer19) c.3906dup (p.Leu1303AlafsTer19) c.3897dup (p.Leu1300AlafsTer19) c.3888dup (p.Leu1297AlafsTer19) c.3906dup (p.Leu1303AlafsTer20) c.2226dup (p.Leu743AlafsTer19) | |
| X | g.108677581G>A | CA413850467 | COL4A5 | c.3890G>A (p.Gly1297Glu) c.3872G>A (p.Gly1291Glu) n.384G>A n.293G>A c.3881G>A (p.Gly1294Glu) c.3566G>A (p.Gly1189Glu) c.1463G>A (p.Gly488Glu) c.3905G>A (p.Gly1302Glu) c.3896G>A (p.Gly1299Glu) c.3887G>A (p.Gly1296Glu) c.2225G>A (p.Gly742Glu) | gnomAD v4 |
| X | g.108677581G>C | CA413850469 | COL4A5 | c.3890G>C (p.Gly1297Ala) c.3872G>C (p.Gly1291Ala) n.384G>C n.293G>C c.3881G>C (p.Gly1294Ala) c.3566G>C (p.Gly1189Ala) c.1463G>C (p.Gly488Ala) c.3905G>C (p.Gly1302Ala) c.3896G>C (p.Gly1299Ala) c.3887G>C (p.Gly1296Ala) c.2225G>C (p.Gly742Ala) | |
| X | g.108677581G>T | CA413850471 | COL4A5 | c.3890G>T (p.Gly1297Val) c.3872G>T (p.Gly1291Val) n.384G>T n.293G>T c.3881G>T (p.Gly1294Val) c.3566G>T (p.Gly1189Val) c.1463G>T (p.Gly488Val) c.3905G>T (p.Gly1302Val) c.3896G>T (p.Gly1299Val) c.3887G>T (p.Gly1296Val) c.2225G>T (p.Gly742Val) | ClinVar |
| X | g.108677582G>A | CA517923364 | COL4A5 | c.3891G>A (p.Gly1297=) c.3873G>A (p.Gly1291=) n.385G>A n.294G>A c.3882G>A (p.Gly1294=) c.3567G>A (p.Gly1189=) c.1464G>A (p.Gly488=) c.3906G>A (p.Gly1302=) c.3897G>A (p.Gly1299=) c.3888G>A (p.Gly1296=) c.2226G>A (p.Gly742=) | |
| X | g.108677582G>C | CA517923365 | COL4A5 | c.3891G>C (p.Gly1297=) c.3873G>C (p.Gly1291=) n.385G>C n.294G>C c.3882G>C (p.Gly1294=) c.3567G>C (p.Gly1189=) c.1464G>C (p.Gly488=) c.3906G>C (p.Gly1302=) c.3897G>C (p.Gly1299=) c.3888G>C (p.Gly1296=) c.2226G>C (p.Gly742=) | |
| X | g.108677582G= | CA2450715785 | COL4A5 | c.3891G= (p.Gly1297=) c.3873G= (p.Gly1291=) n.385G= n.294G= c.3882G= (p.Gly1294=) c.3567G= (p.Gly1189=) c.1464G= (p.Gly488=) c.3906G= (p.Gly1302=) c.3897G= (p.Gly1299=) c.3888G= (p.Gly1296=) c.2226G= (p.Gly742=) | |
| X | g.108677582G>T | CA517923366 | COL4A5 | c.3891G>T (p.Gly1297=) c.3873G>T (p.Gly1291=) n.385G>T n.294G>T c.3882G>T (p.Gly1294=) c.3567G>T (p.Gly1189=) c.1464G>T (p.Gly488=) c.3906G>T (p.Gly1302=) c.3897G>T (p.Gly1299=) c.3888G>T (p.Gly1296=) c.2226G>T (p.Gly742=) | ClinVar dbSNP |