| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591105dup | CA258425 | COL4A5 | c.1213dup (p.Arg405LysfsTer6) n.669dup c.889dup (p.Arg297LysfsTer6) c.1228dup (p.Arg410LysfsTer6) c.-497dup (n.-497dup) | dbSNP |
| X | g.108591105A= | CA2450686400 | COL4A5 | c.1213A= (p.Arg405=) n.669A= c.889A= (p.Arg297=) c.1228A= (p.Arg410=) c.-497A= (n.-497A=) | |
| X | g.108591105A>C | CA517992169 | COL4A5 | c.1213A>C (p.Arg405=) n.669A>C c.889A>C (p.Arg297=) c.1228A>C (p.Arg410=) c.-497A>C (n.-497A>C) | |
| X | g.108591105A>G | CA413932327 | COL4A5 | c.1213A>G (p.Arg405Gly) n.669A>G c.889A>G (p.Arg297Gly) c.1228A>G (p.Arg410Gly) c.-497A>G (n.-497A>G) | |
| X | g.108591105A>T | CA413932328 | COL4A5 | c.1213A>T (p.Arg405Trp) n.669A>T c.889A>T (p.Arg297Trp) c.1228A>T (p.Arg410Trp) c.-497A>T (n.-497A>T) | |
| X | g.108591106G>A | CA334182224 | COL4A5 | c.1214G>A (p.Arg405Lys) n.670G>A c.890G>A (p.Arg297Lys) c.1229G>A (p.Arg410Lys) c.-496G>A (n.-496G>A) | dbSNP |
| X | g.108591106G>C | CA413932329 | COL4A5 | c.1214G>C (p.Arg405Thr) n.670G>C c.890G>C (p.Arg297Thr) c.1229G>C (p.Arg410Thr) c.-496G>C (n.-496G>C) | gnomAD v4 |
| X | g.108591106G= | CA2450686401 | COL4A5 | c.1214G= (p.Arg405=) n.670G= c.890G= (p.Arg297=) c.1229G= (p.Arg410=) c.-496G= (n.-496G=) | |
| X | g.108591106G>T | CA413932330 | COL4A5 | c.1214G>T (p.Arg405Met) n.670G>T c.890G>T (p.Arg297Met) c.1229G>T (p.Arg410Met) c.-496G>T (n.-496G>T) | COSMIC |
| X | g.108591106_108591109dup | CA334182222 | COL4A5 | c.1214_1217dup (p.Gln407GlyfsTer5) n.670_673dup c.890_893dup (p.Gln299GlyfsTer5) c.1229_1232dup (p.Gln412GlyfsTer5) c.-496_-493dup (n.-496_-493dup) | dbSNP |
| X | g.108591109del | CA1139771365 | COL4A5 | c.1217del (p.Gly406ValfsTer?) n.673del c.893del (p.Gly298ValfsTer?) c.1232del (p.Gly411ValfsTer?) c.-493del (n.-493del) | |
| X | g.108591106_108591107insA | CA258426 | COL4A5 | c.1214_1215insA (p.Gln407SerfsTer4) n.670_671insA c.890_891insA (p.Gln299SerfsTer4) c.1229_1230insA (p.Gln412SerfsTer4) c.-496_-495insA (n.-496_-495insA) | dbSNP |
| X | g.108591107G>A | CA517992170 | COL4A5 | c.1215G>A (p.Arg405=) n.671G>A c.891G>A (p.Arg297=) c.1230G>A (p.Arg410=) c.-495G>A (n.-495G>A) | |
| X | g.108591107G>C | CA413932336 | COL4A5 | c.1215G>C (p.Arg405Ser) n.671G>C c.891G>C (p.Arg297Ser) c.1230G>C (p.Arg410Ser) c.-495G>C (n.-495G>C) | |
| X | g.108591107G= | CA2450686402 | COL4A5 | c.1215G= (p.Arg405=) n.671G= c.891G= (p.Arg297=) c.1230G= (p.Arg410=) c.-495G= (n.-495G=) | |
| X | g.108591107G>T | CA413932333 | COL4A5 | c.1215G>T (p.Arg405Ser) n.671G>T c.891G>T (p.Arg297Ser) c.1230G>T (p.Arg410Ser) c.-495G>T (n.-495G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591108G>A | CA261054 | COL4A5 | c.1216G>A (p.Gly406Ser) n.672G>A c.892G>A (p.Gly298Ser) c.1231G>A (p.Gly411Ser) c.-494G>A (n.-494G>A) | dbSNP |
| X | g.108591108G>C | CA413932350 | COL4A5 | c.1216G>C (p.Gly406Arg) n.672G>C c.892G>C (p.Gly298Arg) c.1231G>C (p.Gly411Arg) c.-494G>C (n.-494G>C) | |
| X | g.108591108G= | CA2450686403 | COL4A5 | c.1216G= (p.Gly406=) n.672G= c.892G= (p.Gly298=) c.1231G= (p.Gly411=) c.-494G= (n.-494G=) | |
| X | g.108591108G>T | CA413932352 | COL4A5 | c.1216G>T (p.Gly406Cys) n.672G>T c.892G>T (p.Gly298Cys) c.1231G>T (p.Gly411Cys) c.-494G>T (n.-494G>T) | |
| X | g.108591109G>A | CA413932356 | COL4A5 | c.1217G>A (p.Gly406Asp) n.673G>A c.893G>A (p.Gly298Asp) c.1232G>A (p.Gly411Asp) c.-493G>A (n.-493G>A) | ClinVar dbSNP |
| X | g.108591109G>C | CA413932358 | COL4A5 | c.1217G>C (p.Gly406Ala) n.673G>C c.893G>C (p.Gly298Ala) c.1232G>C (p.Gly411Ala) c.-493G>C (n.-493G>C) | |
| X | g.108591109G= | CA2450686404 | COL4A5 | c.1217G= (p.Gly406=) n.673G= c.893G= (p.Gly298=) c.1232G= (p.Gly411=) c.-493G= (n.-493G=) | |
| X | g.108591109G>T | CA258427 | COL4A5 | c.1217G>T (p.Gly406Val) n.673G>T c.893G>T (p.Gly298Val) c.1232G>T (p.Gly411Val) c.-493G>T (n.-493G>T) | ClinVar dbSNP |
| X | g.108591110T>A | CA517992171 | COL4A5 | c.1218T>A (p.Gly406=) n.674T>A c.894T>A (p.Gly298=) c.1233T>A (p.Gly411=) c.-492T>A (n.-492T>A) | |
| X | g.108591110T>C | CA517992172 | COL4A5 | c.1218T>C (p.Gly406=) n.674T>C c.894T>C (p.Gly298=) c.1233T>C (p.Gly411=) c.-492T>C (n.-492T>C) | |
| X | g.108591110T>G | CA517992173 | COL4A5 | c.1218T>G (p.Gly406=) n.674T>G c.894T>G (p.Gly298=) c.1233T>G (p.Gly411=) c.-492T>G (n.-492T>G) | |
| X | g.108591111C>A | CA413932359 | COL4A5 | c.1219C>A (p.Gln407Lys) n.675C>A c.895C>A (p.Gln299Lys) c.1234C>A (p.Gln412Lys) c.-491C>A (n.-491C>A) | |
| X | g.108591111C= | CA2450686405 | COL4A5 | c.1219C= (p.Gln407=) n.675C= c.895C= (p.Gln299=) c.1234C= (p.Gln412=) c.-491C= (n.-491C=) | |
| X | g.108591111C>G | CA413932362 | COL4A5 | c.1219C>G (p.Gln407Glu) n.675C>G c.895C>G (p.Gln299Glu) c.1234C>G (p.Gln412Glu) c.-491C>G (n.-491C>G) | |
| X | g.108591111C>T | CA258429 | COL4A5 | c.1219C>T (p.Gln407Ter) n.675C>T c.895C>T (p.Gln299Ter) c.1234C>T (p.Gln412Ter) c.-491C>T (n.-491C>T) | dbSNP COSMIC COSMIC |
| X | g.108591112A>C | CA413932371 | COL4A5 | c.1220A>C (p.Gln407Pro) n.676A>C c.896A>C (p.Gln299Pro) c.1235A>C (p.Gln412Pro) c.-490A>C (n.-490A>C) | |
| X | g.108591112A>G | CA413932375 | COL4A5 | c.1220A>G (p.Gln407Arg) n.676A>G c.896A>G (p.Gln299Arg) c.1235A>G (p.Gln412Arg) c.-490A>G (n.-490A>G) | |
| X | g.108591112A>T | CA413932384 | COL4A5 | c.1220A>T (p.Gln407Leu) n.676A>T c.896A>T (p.Gln299Leu) c.1235A>T (p.Gln412Leu) c.-490A>T (n.-490A>T) | |
| X | g.108591113G>A | CA517992174 | COL4A5 | c.1221G>A (p.Gln407=) n.677G>A c.897G>A (p.Gln299=) c.1236G>A (p.Gln412=) c.-489G>A (n.-489G>A) | ClinVar |
| X | g.108591113G>C | CA413932426 | COL4A5 | c.1221G>C (p.Gln407His) n.677G>C c.897G>C (p.Gln299His) c.1236G>C (p.Gln412His) c.-489G>C (n.-489G>C) | |
| X | g.108591113G>T | CA413932429 | COL4A5 | c.1221G>T (p.Gln407His) n.677G>T c.897G>T (p.Gln299His) c.1236G>T (p.Gln412His) c.-489G>T (n.-489G>T) | |
| X | g.108591114A= | CA2450686406 | COL4A5 | c.1222A= (p.Lys408=) n.678A= c.898A= (p.Lys300=) c.1237A= (p.Lys413=) c.-488A= (n.-488A=) | |
| X | g.108591114A>C | CA413932433 | COL4A5 | c.1222A>C (p.Lys408Gln) n.678A>C c.898A>C (p.Lys300Gln) c.1237A>C (p.Lys413Gln) c.-488A>C (n.-488A>C) | |
| X | g.108591114A>G | CA413932432 | COL4A5 | c.1222A>G (p.Lys408Glu) n.678A>G c.898A>G (p.Lys300Glu) c.1237A>G (p.Lys413Glu) c.-488A>G (n.-488A>G) | |
| X | g.108591114A>T | CA258433 | COL4A5 | c.1222A>T (p.Lys408Ter) n.678A>T c.898A>T (p.Lys300Ter) c.1237A>T (p.Lys413Ter) c.-488A>T (n.-488A>T) | dbSNP |
| X | g.108591115A>C | CA413932434 | COL4A5 | c.1223A>C (p.Lys408Thr) n.679A>C c.899A>C (p.Lys300Thr) c.1238A>C (p.Lys413Thr) c.-487A>C (n.-487A>C) | |
| X | g.108591115A>G | CA413932435 | COL4A5 | c.1223A>G (p.Lys408Arg) n.679A>G c.899A>G (p.Lys300Arg) c.1238A>G (p.Lys413Arg) c.-487A>G (n.-487A>G) | |
| X | g.108591115A>T | CA413932438 | COL4A5 | c.1223A>T (p.Lys408Ile) n.679A>T c.899A>T (p.Lys300Ile) c.1238A>T (p.Lys413Ile) c.-487A>T (n.-487A>T) | |
| X | g.108591116A>C | CA413932444 | COL4A5 | c.1224A>C (p.Lys408Asn) n.680A>C c.900A>C (p.Lys300Asn) c.1239A>C (p.Lys413Asn) c.-486A>C (n.-486A>C) | |
| X | g.108591116A>G | CA517992175 | COL4A5 | c.1224A>G (p.Lys408=) n.680A>G c.900A>G (p.Lys300=) c.1239A>G (p.Lys413=) c.-486A>G (n.-486A>G) | |
| X | g.108591116A>T | CA413932446 | COL4A5 | c.1224A>T (p.Lys408Asn) n.680A>T c.900A>T (p.Lys300Asn) c.1239A>T (p.Lys413Asn) c.-486A>T (n.-486A>T) | |
| X | g.108591117G>A | CA413932449 | COL4A5 | c.1225G>A (p.Gly409Ser) n.681G>A c.901G>A (p.Gly301Ser) c.1240G>A (p.Gly414Ser) c.-485G>A (n.-485G>A) | ClinVar dbSNP |
| X | g.108591117G>C | CA413932451 | COL4A5 | c.1225G>C (p.Gly409Arg) n.681G>C c.901G>C (p.Gly301Arg) c.1240G>C (p.Gly414Arg) c.-485G>C (n.-485G>C) | |
| X | g.108591117G= | CA2450686407 | COL4A5 | c.1225G= (p.Gly409=) n.681G= c.901G= (p.Gly301=) c.1240G= (p.Gly414=) c.-485G= (n.-485G=) | |
| X | g.108591117G>T | CA413932457 | COL4A5 | c.1225G>T (p.Gly409Cys) n.681G>T c.901G>T (p.Gly301Cys) c.1240G>T (p.Gly414Cys) c.-485G>T (n.-485G>T) | |
| X | g.108591118G>A | CA258437 | COL4A5 | c.1226G>A (p.Gly409Asp) n.682G>A c.902G>A (p.Gly301Asp) c.1241G>A (p.Gly414Asp) c.-484G>A (n.-484G>A) | ClinVar dbSNP |
| X | g.108591118G>C | CA413932460 | COL4A5 | c.1226G>C (p.Gly409Ala) n.682G>C c.902G>C (p.Gly301Ala) c.1241G>C (p.Gly414Ala) c.-484G>C (n.-484G>C) | ClinVar dbSNP |
| X | g.108591118G= | CA2450686408 | COL4A5 | c.1226G= (p.Gly409=) n.682G= c.902G= (p.Gly301=) c.1241G= (p.Gly414=) c.-484G= (n.-484G=) | |
| X | g.108591118G>T | CA413932463 | COL4A5 | c.1226G>T (p.Gly409Val) n.682G>T c.902G>T (p.Gly301Val) c.1241G>T (p.Gly414Val) c.-484G>T (n.-484G>T) | ClinVar dbSNP |
| X | g.108591119T>A | CA517992176 | COL4A5 | c.1227T>A (p.Gly409=) n.683T>A c.903T>A (p.Gly301=) c.1242T>A (p.Gly414=) c.-483T>A (n.-483T>A) | |
| X | g.108591119T>C | CA517992178 | COL4A5 | c.1227T>C (p.Gly409=) n.683T>C c.903T>C (p.Gly301=) c.1242T>C (p.Gly414=) c.-483T>C (n.-483T>C) | dbSNP |
| X | g.108591119T>G | CA517992177 | COL4A5 | c.1227T>G (p.Gly409=) n.683T>G c.903T>G (p.Gly301=) c.1242T>G (p.Gly414=) c.-483T>G (n.-483T>G) | |
| X | g.108591119T= | CA2450686409 | COL4A5 | c.1227T= (p.Gly409=) n.683T= c.903T= (p.Gly301=) c.1242T= (p.Gly414=) c.-483T= (n.-483T=) | |
| X | g.108591120G>A | CA413932466 | COL4A5 | c.1228G>A (p.Asp410Asn) n.684G>A c.904G>A (p.Asp302Asn) c.1243G>A (p.Asp415Asn) c.-482G>A (n.-482G>A) | gnomAD v4 COSMIC COSMIC |
| X | g.108591120G>C | CA413932469 | COL4A5 | c.1228G>C (p.Asp410His) n.684G>C c.904G>C (p.Asp302His) c.1243G>C (p.Asp415His) c.-482G>C (n.-482G>C) | |
| X | g.108591120G>T | CA413932474 | COL4A5 | c.1228G>T (p.Asp410Tyr) n.684G>T c.904G>T (p.Asp302Tyr) c.1243G>T (p.Asp415Tyr) c.-482G>T (n.-482G>T) | |
| X | g.108591121A>C | CA413932481 | COL4A5 | c.1229A>C (p.Asp410Ala) n.685A>C c.905A>C (p.Asp302Ala) c.1244A>C (p.Asp415Ala) c.-481A>C (n.-481A>C) | |
| X | g.108591121A>G | CA413932485 | COL4A5 | c.1229A>G (p.Asp410Gly) n.685A>G c.905A>G (p.Asp302Gly) c.1244A>G (p.Asp415Gly) c.-481A>G (n.-481A>G) | |
| X | g.108591121A>T | CA413932477 | COL4A5 | c.1229A>T (p.Asp410Val) n.685A>T c.905A>T (p.Asp302Val) c.1244A>T (p.Asp415Val) c.-481A>T (n.-481A>T) | |
| X | g.108591122T>A | CA413932489 | COL4A5 | c.1230T>A (p.Asp410Glu) n.686T>A c.906T>A (p.Asp302Glu) c.1245T>A (p.Asp415Glu) c.-480T>A (n.-480T>A) | |
| X | g.108591122T>C | CA517992179 | COL4A5 | c.1230T>C (p.Asp410=) n.686T>C c.906T>C (p.Asp302=) c.1245T>C (p.Asp415=) c.-480T>C (n.-480T>C) | ClinVar dbSNP gnomAD v4 |
| X | g.108591122T>G | CA413932493 | COL4A5 | c.1230T>G (p.Asp410Glu) n.686T>G c.906T>G (p.Asp302Glu) c.1245T>G (p.Asp415Glu) c.-480T>G (n.-480T>G) | |
| X | g.108591122T= | CA2450686410 | COL4A5 | c.1230T= (p.Asp410=) n.686T= c.906T= (p.Asp302=) c.1245T= (p.Asp415=) c.-480T= (n.-480T=) | |
| X | g.108591123G>A | CA413932513 | COL4A5 | c.1231G>A (p.Glu411Lys) n.687G>A c.907G>A (p.Glu303Lys) c.1246G>A (p.Glu416Lys) c.-479G>A (n.-479G>A) | |
| X | g.108591123G>C | CA413932515 | COL4A5 | c.1231G>C (p.Glu411Gln) n.687G>C c.907G>C (p.Glu303Gln) c.1246G>C (p.Glu416Gln) c.-479G>C (n.-479G>C) | |
| X | g.108591123G>T | CA413932518 | COL4A5 | c.1231G>T (p.Glu411Ter) n.687G>T c.907G>T (p.Glu303Ter) c.1246G>T (p.Glu416Ter) c.-479G>T (n.-479G>T) | |
| X | g.108591124A>C | CA413932526 | COL4A5 | c.1232A>C (p.Glu411Ala) n.688A>C c.908A>C (p.Glu303Ala) c.1247A>C (p.Glu416Ala) c.-478A>C (n.-478A>C) | |
| X | g.108591124A>G | CA413932541 | COL4A5 | c.1232A>G (p.Glu411Gly) n.688A>G c.908A>G (p.Glu303Gly) c.1247A>G (p.Glu416Gly) c.-478A>G (n.-478A>G) | |
| X | g.108591124A>T | CA413932545 | COL4A5 | c.1232A>T (p.Glu411Val) n.688A>T c.908A>T (p.Glu303Val) c.1247A>T (p.Glu416Val) c.-478A>T (n.-478A>T) | |
| X | g.108591125A>C | CA413932548 | COL4A5 | c.1233A>C (p.Glu411Asp) n.689A>C c.909A>C (p.Glu303Asp) c.1248A>C (p.Glu416Asp) c.-477A>C (n.-477A>C) | |
| X | g.108591125A>G | CA517992180 | COL4A5 | c.1233A>G (p.Glu411=) n.689A>G c.909A>G (p.Glu303=) c.1248A>G (p.Glu416=) c.-477A>G (n.-477A>G) | |
| X | g.108591125A>T | CA413932551 | COL4A5 | c.1233A>T (p.Glu411Asp) n.689A>T c.909A>T (p.Glu303Asp) c.1248A>T (p.Glu416Asp) c.-477A>T (n.-477A>T) | |
| X | g.108591126G>A | CA413932553 | COL4A5 | c.1234G>A (p.Gly412Arg) n.690G>A c.910G>A (p.Gly304Arg) c.1249G>A (p.Gly417Arg) c.-476G>A (n.-476G>A) | ClinVar dbSNP |
| X | g.108591126G>C | CA413932557 | COL4A5 | c.1234G>C (p.Gly412Arg) n.690G>C c.910G>C (p.Gly304Arg) c.1249G>C (p.Gly417Arg) c.-476G>C (n.-476G>C) | ClinVar dbSNP |
| X | g.108591126G= | CA2450686411 | COL4A5 | c.1234G= (p.Gly412=) n.690G= c.910G= (p.Gly304=) c.1249G= (p.Gly417=) c.-476G= (n.-476G=) | |
| X | g.108591126G>T | CA413932558 | COL4A5 | c.1234G>T (p.Gly412Ter) n.690G>T c.910G>T (p.Gly304Ter) c.1249G>T (p.Gly417Ter) c.-476G>T (n.-476G>T) | |
| X | g.108591127G>A | CA413932564 | COL4A5 | c.1235G>A (p.Gly412Glu) n.691G>A c.911G>A (p.Gly304Glu) c.1250G>A (p.Gly417Glu) c.-475G>A (n.-475G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108591127G>C | CA413932560 | COL4A5 | c.1235G>C (p.Gly412Ala) n.691G>C c.911G>C (p.Gly304Ala) c.1250G>C (p.Gly417Ala) c.-475G>C (n.-475G>C) | |
| X | g.108591127G= | CA2450686412 | COL4A5 | c.1235G= (p.Gly412=) n.691G= c.911G= (p.Gly304=) c.1250G= (p.Gly417=) c.-475G= (n.-475G=) | |
| X | g.108591127G>T | CA258439 | COL4A5 | c.1235G>T (p.Gly412Val) n.691G>T c.911G>T (p.Gly304Val) c.1250G>T (p.Gly417Val) c.-475G>T (n.-475G>T) | dbSNP |
| X | g.108591128A= | CA2450686413 | COL4A5 | c.1236A= (p.Gly412=) n.692A= c.912A= (p.Gly304=) c.1251A= (p.Gly417=) c.-474A= (n.-474A=) | |
| X | g.108591128A>C | CA517992181 | COL4A5 | c.1236A>C (p.Gly412=) n.692A>C c.912A>C (p.Gly304=) c.1251A>C (p.Gly417=) c.-474A>C (n.-474A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591128A>G | CA517992182 | COL4A5 | c.1236A>G (p.Gly412=) n.692A>G c.912A>G (p.Gly304=) c.1251A>G (p.Gly417=) c.-474A>G (n.-474A>G) | |
| X | g.108591128A>T | CA517992183 | COL4A5 | c.1236A>T (p.Gly412=) n.692A>T c.912A>T (p.Gly304=) c.1251A>T (p.Gly417=) c.-474A>T (n.-474A>T) | |
| X | g.108591129C>A | CA413932566 | COL4A5 | c.1237C>A (p.Pro413Thr) n.693C>A c.913C>A (p.Pro305Thr) c.1252C>A (p.Pro418Thr) c.-473C>A (n.-473C>A) | |
| X | g.108591129C>G | CA413932569 | COL4A5 | c.1237C>G (p.Pro413Ala) n.693C>G c.913C>G (p.Pro305Ala) c.1252C>G (p.Pro418Ala) c.-473C>G (n.-473C>G) | |
| X | g.108591129C>T | CA413932570 | COL4A5 | c.1237C>T (p.Pro413Ser) n.693C>T c.913C>T (p.Pro305Ser) c.1252C>T (p.Pro418Ser) c.-473C>T (n.-473C>T) | |
| X | g.108591130C>A | CA413932573 | COL4A5 | c.1238C>A (p.Pro413Gln) n.694C>A c.914C>A (p.Pro305Gln) c.1253C>A (p.Pro418Gln) c.-472C>A (n.-472C>A) | |
| X | g.108591130C>G | CA413932575 | COL4A5 | c.1238C>G (p.Pro413Arg) n.694C>G c.914C>G (p.Pro305Arg) c.1253C>G (p.Pro418Arg) c.-472C>G (n.-472C>G) | |
| X | g.108591130C>T | CA413932578 | COL4A5 | c.1238C>T (p.Pro413Leu) n.694C>T c.914C>T (p.Pro305Leu) c.1253C>T (p.Pro418Leu) c.-472C>T (n.-472C>T) | |
| X | g.108591131A>C | CA517992184 | COL4A5 | c.1239A>C (p.Pro413=) n.695A>C c.915A>C (p.Pro305=) c.1254A>C (p.Pro418=) c.-471A>C (n.-471A>C) | |
| X | g.108591131A>G | CA517992186 | COL4A5 | c.1239A>G (p.Pro413=) n.695A>G c.915A>G (p.Pro305=) c.1254A>G (p.Pro418=) c.-471A>G (n.-471A>G) | gnomAD v4 |
| X | g.108591131A>T | CA517992185 | COL4A5 | c.1239A>T (p.Pro413=) n.695A>T c.915A>T (p.Pro305=) c.1254A>T (p.Pro418=) c.-471A>T (n.-471A>T) | |
| X | g.108591131_108591155delinsACCTGGAATTTCCATTCCTGGACCT | CA2450686414 | COL4A5 | c.1239_1263delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro413=) n.695_719delinsACCTGGAATTTCCATTCCTGGACCT c.915_939delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro305=) c.1254_1278delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro418=) c.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT (n.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT) | |
| X | g.108591132C>A | CA413932581 | COL4A5 | c.1240C>A (p.Pro414Thr) n.696C>A c.916C>A (p.Pro306Thr) c.1255C>A (p.Pro419Thr) c.-470C>A (n.-470C>A) | |
| X | g.108591132C>G | CA413932583 | COL4A5 | c.1240C>G (p.Pro414Ala) n.696C>G c.916C>G (p.Pro306Ala) c.1255C>G (p.Pro419Ala) c.-470C>G (n.-470C>G) | gnomAD v4 |
| X | g.108591132C>T | CA413932584 | COL4A5 | c.1240C>T (p.Pro414Ser) n.696C>T c.916C>T (p.Pro306Ser) c.1255C>T (p.Pro419Ser) c.-470C>T (n.-470C>T) | |
| X | g.108591138_108591161del | CA891843923 | COL4A5 | c.1246_1269del (p.Ile416_Gly423del) n.702_725del c.922_945del (p.Ile308_Gly315del) c.1261_1284del (p.Ile421_Gly428del) c.-464_-441del (n.-464_-441del) | |
| X | g.108591133C>A | CA413932587 | COL4A5 | c.1241C>A (p.Pro414His) n.697C>A c.917C>A (p.Pro306His) c.1256C>A (p.Pro419His) c.-469C>A (n.-469C>A) | |
| X | g.108591133C>G | CA413932589 | COL4A5 | c.1241C>G (p.Pro414Arg) n.697C>G c.917C>G (p.Pro306Arg) c.1256C>G (p.Pro419Arg) c.-469C>G (n.-469C>G) | |
| X | g.108591133C>T | CA413932597 | COL4A5 | c.1241C>T (p.Pro414Leu) n.697C>T c.917C>T (p.Pro306Leu) c.1256C>T (p.Pro419Leu) c.-469C>T (n.-469C>T) | |
| X | g.108591134T>A | CA517992187 | COL4A5 | c.1242T>A (p.Pro414=) n.698T>A c.918T>A (p.Pro306=) c.1257T>A (p.Pro419=) c.-468T>A (n.-468T>A) | |
| X | g.108591134T>C | CA517992188 | COL4A5 | c.1242T>C (p.Pro414=) n.698T>C c.918T>C (p.Pro306=) c.1257T>C (p.Pro419=) c.-468T>C (n.-468T>C) | COSMIC COSMIC |
| X | g.108591134T>G | CA517992189 | COL4A5 | c.1242T>G (p.Pro414=) n.698T>G c.918T>G (p.Pro306=) c.1257T>G (p.Pro419=) c.-468T>G (n.-468T>G) | gnomAD v4 |
| X | g.108591135G>A | CA258441 | COL4A5 | c.1243G>A (p.Gly415Arg) n.699G>A c.919G>A (p.Gly307Arg) c.1258G>A (p.Gly420Arg) c.-467G>A (n.-467G>A) | dbSNP |
| X | g.108591135G>C | CA413932605 | COL4A5 | c.1243G>C (p.Gly415Arg) n.699G>C c.919G>C (p.Gly307Arg) c.1258G>C (p.Gly420Arg) c.-467G>C (n.-467G>C) | |
| X | g.108591135G= | CA2450686415 | COL4A5 | c.1243G= (p.Gly415=) n.699G= c.919G= (p.Gly307=) c.1258G= (p.Gly420=) c.-467G= (n.-467G=) | |
| X | g.108591135G>T | CA413932603 | COL4A5 | c.1243G>T (p.Gly415Ter) n.699G>T c.919G>T (p.Gly307Ter) c.1258G>T (p.Gly420Ter) c.-467G>T (n.-467G>T) | |
| X | g.108591136G>A | CA413932611 | COL4A5 | c.1244G>A (p.Gly415Glu) n.700G>A c.920G>A (p.Gly307Glu) c.1259G>A (p.Gly420Glu) c.-466G>A (n.-466G>A) | |
| X | g.108591136G>C | CA413932613 | COL4A5 | c.1244G>C (p.Gly415Ala) n.700G>C c.920G>C (p.Gly307Ala) c.1259G>C (p.Gly420Ala) c.-466G>C (n.-466G>C) | |
| X | g.108591136G>T | CA413932612 | COL4A5 | c.1244G>T (p.Gly415Val) n.700G>T c.920G>T (p.Gly307Val) c.1259G>T (p.Gly420Val) c.-466G>T (n.-466G>T) | COSMIC COSMIC |
| X | g.108591137A>C | CA517992190 | COL4A5 | c.1245A>C (p.Gly415=) n.701A>C c.921A>C (p.Gly307=) c.1260A>C (p.Gly420=) c.-465A>C (n.-465A>C) | |
| X | g.108591137A>G | CA517992191 | COL4A5 | c.1245A>G (p.Gly415=) n.701A>G c.921A>G (p.Gly307=) c.1260A>G (p.Gly420=) c.-465A>G (n.-465A>G) | |
| X | g.108591137A>T | CA517992192 | COL4A5 | c.1245A>T (p.Gly415=) n.701A>T c.921A>T (p.Gly307=) c.1260A>T (p.Gly420=) c.-465A>T (n.-465A>T) | |
| X | g.108591138A= | CA2450686416 | COL4A5 | c.1246A= (p.Ile416=) n.702A= c.922A= (p.Ile308=) c.1261A= (p.Ile421=) c.-464A= (n.-464A=) | |
| X | g.108591138A>C | CA413932614 | COL4A5 | c.1246A>C (p.Ile416Leu) n.702A>C c.922A>C (p.Ile308Leu) c.1261A>C (p.Ile421Leu) c.-464A>C (n.-464A>C) | |
| X | g.108591138A>G | CA413932615 | COL4A5 | c.1246A>G (p.Ile416Val) n.702A>G c.922A>G (p.Ile308Val) c.1261A>G (p.Ile421Val) c.-464A>G (n.-464A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591138A>T | CA413932617 | COL4A5 | c.1246A>T (p.Ile416Phe) n.702A>T c.922A>T (p.Ile308Phe) c.1261A>T (p.Ile421Phe) c.-464A>T (n.-464A>T) | |
| X | g.108591139T>A | CA413932619 | COL4A5 | c.1247T>A (p.Ile416Asn) n.703T>A c.923T>A (p.Ile308Asn) c.1262T>A (p.Ile421Asn) c.-463T>A (n.-463T>A) | |
| X | g.108591139T>C | CA413932623 | COL4A5 | c.1247T>C (p.Ile416Thr) n.703T>C c.923T>C (p.Ile308Thr) c.1262T>C (p.Ile421Thr) c.-463T>C (n.-463T>C) | |
| X | g.108591139T>G | CA413932626 | COL4A5 | c.1247T>G (p.Ile416Ser) n.703T>G c.923T>G (p.Ile308Ser) c.1262T>G (p.Ile421Ser) c.-463T>G (n.-463T>G) | |
| X | g.108591141_108591164dup | CA2450686417 | COL4A5 | c.1249_1272dup (p.Leu424_Asp425insSerIleProGlyProProGlyLeu) n.705_728dup c.925_948dup (p.Leu316_Asp317insSerIleProGlyProProGlyLeu) c.1264_1287dup (p.Leu429_Asp430insSerIleProGlyProProGlyLeu) c.-461_-438dup (n.-461_-438dup) | ClinVar dbSNP |
| X | g.108591140T>A | CA517992193 | COL4A5 | c.1248T>A (p.Ile416=) n.704T>A c.924T>A (p.Ile308=) c.1263T>A (p.Ile421=) c.-462T>A (n.-462T>A) | |
| X | g.108591140T>C | CA517992194 | COL4A5 | c.1248T>C (p.Ile416=) n.704T>C c.924T>C (p.Ile308=) c.1263T>C (p.Ile421=) c.-462T>C (n.-462T>C) | |
| X | g.108591140T>G | CA413932627 | COL4A5 | c.1248T>G (p.Ile416Met) n.704T>G c.924T>G (p.Ile308Met) c.1263T>G (p.Ile421Met) c.-462T>G (n.-462T>G) | |
| X | g.108591141T>A | CA413932631 | COL4A5 | c.1249T>A (p.Ser417Thr) n.705T>A c.925T>A (p.Ser309Thr) c.1264T>A (p.Ser422Thr) c.-461T>A (n.-461T>A) | |
| X | g.108591141T>C | CA413932632 | COL4A5 | c.1249T>C (p.Ser417Pro) n.705T>C c.925T>C (p.Ser309Pro) c.1264T>C (p.Ser422Pro) c.-461T>C (n.-461T>C) | |
| X | g.108591141T>G | CA413932634 | COL4A5 | c.1249T>G (p.Ser417Ala) n.705T>G c.925T>G (p.Ser309Ala) c.1264T>G (p.Ser422Ala) c.-461T>G (n.-461T>G) | |
| X | g.108591142C>A | CA413932638 | COL4A5 | c.1250C>A (p.Ser417Tyr) n.706C>A c.926C>A (p.Ser309Tyr) c.1265C>A (p.Ser422Tyr) c.-460C>A (n.-460C>A) | |
| X | g.108591142C>G | CA413932637 | COL4A5 | c.1250C>G (p.Ser417Cys) n.706C>G c.926C>G (p.Ser309Cys) c.1265C>G (p.Ser422Cys) c.-460C>G (n.-460C>G) | |
| X | g.108591142C>T | CA413932636 | COL4A5 | c.1250C>T (p.Ser417Phe) n.706C>T c.926C>T (p.Ser309Phe) c.1265C>T (p.Ser422Phe) c.-460C>T (n.-460C>T) | gnomAD v4 COSMIC |
| X | g.108591143C>A | CA517992195 | COL4A5 | c.1251C>A (p.Ser417=) n.707C>A c.927C>A (p.Ser309=) c.1266C>A (p.Ser422=) c.-459C>A (n.-459C>A) | gnomAD v4 |
| X | g.108591143C>G | CA517992196 | COL4A5 | c.1251C>G (p.Ser417=) n.707C>G c.927C>G (p.Ser309=) c.1266C>G (p.Ser422=) c.-459C>G (n.-459C>G) | |
| X | g.108591143C>T | CA517992197 | COL4A5 | c.1251C>T (p.Ser417=) n.707C>T c.927C>T (p.Ser309=) c.1266C>T (p.Ser422=) c.-459C>T (n.-459C>T) | COSMIC COSMIC |
| X | g.108591144A>C | CA413932640 | COL4A5 | c.1252A>C (p.Ile418Leu) n.708A>C c.928A>C (p.Ile310Leu) c.1267A>C (p.Ile423Leu) c.-458A>C (n.-458A>C) | |
| X | g.108591144A>G | CA413932642 | COL4A5 | c.1252A>G (p.Ile418Val) n.708A>G c.928A>G (p.Ile310Val) c.1267A>G (p.Ile423Val) c.-458A>G (n.-458A>G) | |
| X | g.108591144A>T | CA413932644 | COL4A5 | c.1252A>T (p.Ile418Phe) n.708A>T c.928A>T (p.Ile310Phe) c.1267A>T (p.Ile423Phe) c.-458A>T (n.-458A>T) | |
| X | g.108591144_108591145delinsAT | CA2450686418 | COL4A5 | c.1252_1253delinsAT (p.Ile418=) n.708_709delinsAT c.928_929delinsAT (p.Ile310=) c.1267_1268delinsAT (p.Ile423=) c.-458_-457delinsAT (n.-458_-457delinsAT) | |
| X | g.108591145T>A | CA413932646 | COL4A5 | c.1253T>A (p.Ile418Asn) n.709T>A c.929T>A (p.Ile310Asn) c.1268T>A (p.Ile423Asn) c.-457T>A (n.-457T>A) | |
| X | g.108591145T>C | CA413932649 | COL4A5 | c.1253T>C (p.Ile418Thr) n.709T>C c.929T>C (p.Ile310Thr) c.1268T>C (p.Ile423Thr) c.-457T>C (n.-457T>C) | |
| X | g.108591145T>G | CA413932655 | COL4A5 | c.1253T>G (p.Ile418Ser) n.709T>G c.929T>G (p.Ile310Ser) c.1268T>G (p.Ile423Ser) c.-457T>G (n.-457T>G) | |
| X | g.108591146del | CA258443 | COL4A5 | c.1254del (p.Pro419LeufsTer?) n.710del c.930del (p.Pro311LeufsTer?) c.1269del (p.Pro424LeufsTer?) c.-456del (n.-456del) | dbSNP |
| X | g.108591146T>A | CA517992198 | COL4A5 | c.1254T>A (p.Ile418=) n.710T>A c.930T>A (p.Ile310=) c.1269T>A (p.Ile423=) c.-456T>A (n.-456T>A) | |
| X | g.108591146T>C | CA517992199 | COL4A5 | c.1254T>C (p.Ile418=) n.710T>C c.930T>C (p.Ile310=) c.1269T>C (p.Ile423=) c.-456T>C (n.-456T>C) | ClinVar dbSNP |
| X | g.108591146T>G | CA413932659 | COL4A5 | c.1254T>G (p.Ile418Met) n.710T>G c.930T>G (p.Ile310Met) c.1269T>G (p.Ile423Met) c.-456T>G (n.-456T>G) | |
| X | g.108591147C>A | CA413932661 | COL4A5 | c.1255C>A (p.Pro419Thr) n.711C>A c.931C>A (p.Pro311Thr) c.1270C>A (p.Pro424Thr) c.-455C>A (n.-455C>A) | |
| X | g.108591147C>G | CA413932662 | COL4A5 | c.1255C>G (p.Pro419Ala) n.711C>G c.931C>G (p.Pro311Ala) c.1270C>G (p.Pro424Ala) c.-455C>G (n.-455C>G) | |
| X | g.108591147C>T | CA413932663 | COL4A5 | c.1255C>T (p.Pro419Ser) n.711C>T c.931C>T (p.Pro311Ser) c.1270C>T (p.Pro424Ser) c.-455C>T (n.-455C>T) | |
| X | g.108591148C>A | CA413932666 | COL4A5 | c.1256C>A (p.Pro419His) n.712C>A c.932C>A (p.Pro311His) c.1271C>A (p.Pro424His) c.-454C>A (n.-454C>A) | |
| X | g.108591148C>G | CA413932670 | COL4A5 | c.1256C>G (p.Pro419Arg) n.712C>G c.932C>G (p.Pro311Arg) c.1271C>G (p.Pro424Arg) c.-454C>G (n.-454C>G) | |
| X | g.108591148C>T | CA413932665 | COL4A5 | c.1256C>T (p.Pro419Leu) n.712C>T c.932C>T (p.Pro311Leu) c.1271C>T (p.Pro424Leu) c.-454C>T (n.-454C>T) | gnomAD v4 |
| X | g.108591149T>A | CA517992200 | COL4A5 | c.1257T>A (p.Pro419=) n.713T>A c.933T>A (p.Pro311=) c.1272T>A (p.Pro424=) c.-453T>A (n.-453T>A) | |
| X | g.108591149T>C | CA517992201 | COL4A5 | c.1257T>C (p.Pro419=) n.713T>C c.933T>C (p.Pro311=) c.1272T>C (p.Pro424=) c.-453T>C (n.-453T>C) | |
| X | g.108591149T>G | CA517992202 | COL4A5 | c.1257T>G (p.Pro419=) n.713T>G c.933T>G (p.Pro311=) c.1272T>G (p.Pro424=) c.-453T>G (n.-453T>G) | ClinVar |
| X | g.108591150G>A | CA413932671 | COL4A5 | c.1258G>A (p.Gly420Arg) n.714G>A c.934G>A (p.Gly312Arg) c.1273G>A (p.Gly425Arg) c.-452G>A (n.-452G>A) | ClinVar dbSNP |
| X | g.108591150G>C | CA413932672 | COL4A5 | c.1258G>C (p.Gly420Arg) n.714G>C c.934G>C (p.Gly312Arg) c.1273G>C (p.Gly425Arg) c.-452G>C (n.-452G>C) | |
| X | g.108591150G= | CA2450686419 | COL4A5 | c.1258G= (p.Gly420=) n.714G= c.934G= (p.Gly312=) c.1273G= (p.Gly425=) c.-452G= (n.-452G=) | |
| X | g.108591150G>T | CA413932675 | COL4A5 | c.1258G>T (p.Gly420Ter) n.714G>T c.934G>T (p.Gly312Ter) c.1273G>T (p.Gly425Ter) c.-452G>T (n.-452G>T) | |
| X | g.108591151del | CA2579676150 | COL4A5 | c.1259del (p.Gly420AspfsTer?) n.715del c.935del (p.Gly312AspfsTer?) c.1274del (p.Gly425AspfsTer?) c.-451del (n.-451del) | |
| X | g.108591151G>A | CA258444 | COL4A5 | c.1259G>A (p.Gly420Glu) n.715G>A c.935G>A (p.Gly312Glu) c.1274G>A (p.Gly425Glu) c.-451G>A (n.-451G>A) | dbSNP |
| X | g.108591151G>C | CA413932684 | COL4A5 | c.1259G>C (p.Gly420Ala) n.715G>C c.935G>C (p.Gly312Ala) c.1274G>C (p.Gly425Ala) c.-451G>C (n.-451G>C) | |
| X | g.108591151G= | CA2450686420 | COL4A5 | c.1259G= (p.Gly420=) n.715G= c.935G= (p.Gly312=) c.1274G= (p.Gly425=) c.-451G= (n.-451G=) | |
| X | g.108591151G>T | CA413932686 | COL4A5 | c.1259G>T (p.Gly420Val) n.715G>T c.935G>T (p.Gly312Val) c.1274G>T (p.Gly425Val) c.-451G>T (n.-451G>T) | ClinVar dbSNP |
| X | g.108591152A>C | CA517992203 | COL4A5 | c.1260A>C (p.Gly420=) n.716A>C c.936A>C (p.Gly312=) c.1275A>C (p.Gly425=) c.-450A>C (n.-450A>C) | |
| X | g.108591152A>G | CA517992204 | COL4A5 | c.1260A>G (p.Gly420=) n.716A>G c.936A>G (p.Gly312=) c.1275A>G (p.Gly425=) c.-450A>G (n.-450A>G) | |
| X | g.108591152A>T | CA517992205 | COL4A5 | c.1260A>T (p.Gly420=) n.716A>T c.936A>T (p.Gly312=) c.1275A>T (p.Gly425=) c.-450A>T (n.-450A>T) | |
| X | g.108591153C>A | CA413932696 | COL4A5 | c.1261C>A (p.Pro421Thr) n.717C>A c.937C>A (p.Pro313Thr) c.1276C>A (p.Pro426Thr) c.-449C>A (n.-449C>A) | |
| X | g.108591153C>G | CA413932702 | COL4A5 | c.1261C>G (p.Pro421Ala) n.717C>G c.937C>G (p.Pro313Ala) c.1276C>G (p.Pro426Ala) c.-449C>G (n.-449C>G) | |
| X | g.108591153C>T | CA413932714 | COL4A5 | c.1261C>T (p.Pro421Ser) n.717C>T c.937C>T (p.Pro313Ser) c.1276C>T (p.Pro426Ser) c.-449C>T (n.-449C>T) | |
| X | g.108591154C>A | CA413932733 | COL4A5 | c.1262C>A (p.Pro421His) n.718C>A c.938C>A (p.Pro313His) c.1277C>A (p.Pro426His) c.-448C>A (n.-448C>A) | |
| X | g.108591154C>G | CA413932735 | COL4A5 | c.1262C>G (p.Pro421Arg) n.718C>G c.938C>G (p.Pro313Arg) c.1277C>G (p.Pro426Arg) c.-448C>G (n.-448C>G) | |
| X | g.108591154C>T | CA413932739 | COL4A5 | c.1262C>T (p.Pro421Leu) n.718C>T c.938C>T (p.Pro313Leu) c.1277C>T (p.Pro426Leu) c.-448C>T (n.-448C>T) | |
| X | g.108591155T>A | CA517992206 | COL4A5 | c.1263T>A (p.Pro421=) n.719T>A c.939T>A (p.Pro313=) c.1278T>A (p.Pro426=) c.-447T>A (n.-447T>A) | |
| X | g.108591155T>C | CA517992207 | COL4A5 | c.1263T>C (p.Pro421=) n.719T>C c.939T>C (p.Pro313=) c.1278T>C (p.Pro426=) c.-447T>C (n.-447T>C) | |
| X | g.108591155T>G | CA517992208 | COL4A5 | c.1263T>G (p.Pro421=) n.719T>G c.939T>G (p.Pro313=) c.1278T>G (p.Pro426=) c.-447T>G (n.-447T>G) | COSMIC COSMIC |
| X | g.108591155_108591156delinsTC | CA2450686421 | COL4A5 | c.1263_1264delinsTC (p.Pro421=) n.719_720delinsTC c.939_940delinsTC (p.Pro313=) c.1278_1279delinsTC (p.Pro426=) c.-447_-446delinsTC (n.-447_-446delinsTC) | |
| X | g.108591156C>A | CA413932762 | COL4A5 | c.1264C>A (p.Pro422Thr) n.720C>A c.940C>A (p.Pro314Thr) c.1279C>A (p.Pro427Thr) c.-446C>A (n.-446C>A) | |
| X | g.108591156C= | CA2450686422 | COL4A5 | c.1264C= (p.Pro422=) n.720C= c.940C= (p.Pro314=) c.1279C= (p.Pro427=) c.-446C= (n.-446C=) | |
| X | g.108591156C>G | CA10488699 | COL4A5 | c.1264C>G (p.Pro422Ala) n.720C>G c.940C>G (p.Pro314Ala) c.1279C>G (p.Pro427Ala) c.-446C>G (n.-446C>G) | dbSNP ExAC |
| X | g.108591156C>T | CA413932742 | COL4A5 | c.1264C>T (p.Pro422Ser) n.720C>T c.940C>T (p.Pro314Ser) c.1279C>T (p.Pro427Ser) c.-446C>T (n.-446C>T) | |
| X | g.108591157del | CA258446 | COL4A5 | c.1265del (p.Pro422LeufsTer?) n.721del c.941del (p.Pro314LeufsTer?) c.1280del (p.Pro427LeufsTer?) c.-445del (n.-445del) | dbSNP |
| X | g.108591157C>A | CA413932770 | COL4A5 | c.1265C>A (p.Pro422His) n.721C>A c.941C>A (p.Pro314His) c.1280C>A (p.Pro427His) c.-445C>A (n.-445C>A) | |
| X | g.108591157C>G | CA413932774 | COL4A5 | c.1265C>G (p.Pro422Arg) n.721C>G c.941C>G (p.Pro314Arg) c.1280C>G (p.Pro427Arg) c.-445C>G (n.-445C>G) | |
| X | g.108591157C>T | CA413932779 | COL4A5 | c.1265C>T (p.Pro422Leu) n.721C>T c.941C>T (p.Pro314Leu) c.1280C>T (p.Pro427Leu) c.-445C>T (n.-445C>T) | |
| X | g.108591158T>A | CA517992209 | COL4A5 | c.1266T>A (p.Pro422=) n.722T>A c.942T>A (p.Pro314=) c.1281T>A (p.Pro427=) c.-444T>A (n.-444T>A) | |
| X | g.108591158T>C | CA517992210 | COL4A5 | c.1266T>C (p.Pro422=) n.722T>C c.942T>C (p.Pro314=) c.1281T>C (p.Pro427=) c.-444T>C (n.-444T>C) | |
| X | g.108591158T>G | CA517992211 | COL4A5 | c.1266T>G (p.Pro422=) n.722T>G c.942T>G (p.Pro314=) c.1281T>G (p.Pro427=) c.-444T>G (n.-444T>G) | |
| X | g.108591159G>A | CA413932782 | COL4A5 | c.1267G>A (p.Gly423Arg) n.723G>A c.943G>A (p.Gly315Arg) c.1282G>A (p.Gly428Arg) c.-443G>A (n.-443G>A) | |
| X | g.108591159G>C | CA413932784 | COL4A5 | c.1267G>C (p.Gly423Arg) n.723G>C c.943G>C (p.Gly315Arg) c.1282G>C (p.Gly428Arg) c.-443G>C (n.-443G>C) | |
| X | g.108591159G>T | CA413932787 | COL4A5 | c.1267G>T (p.Gly423Ter) n.723G>T c.943G>T (p.Gly315Ter) c.1282G>T (p.Gly428Ter) c.-443G>T (n.-443G>T) | ClinVar |
| X | g.108591160G>A | CA258447 | COL4A5 | c.1268G>A (p.Gly423Glu) n.724G>A c.944G>A (p.Gly315Glu) c.1283G>A (p.Gly428Glu) c.-442G>A (n.-442G>A) | dbSNP gnomAD v4 |
| X | g.108591160G>C | CA413932790 | COL4A5 | c.1268G>C (p.Gly423Ala) n.724G>C c.944G>C (p.Gly315Ala) c.1283G>C (p.Gly428Ala) c.-442G>C (n.-442G>C) | |
| X | g.108591160G= | CA2450686423 | COL4A5 | c.1268G= (p.Gly423=) n.724G= c.944G= (p.Gly315=) c.1283G= (p.Gly428=) c.-442G= (n.-442G=) | |
| X | g.108591160G>T | CA413932792 | COL4A5 | c.1268G>T (p.Gly423Val) n.724G>T c.944G>T (p.Gly315Val) c.1283G>T (p.Gly428Val) c.-442G>T (n.-442G>T) | |
| X | g.108591161A>C | CA517992212 | COL4A5 | c.1269A>C (p.Gly423=) n.725A>C c.945A>C (p.Gly315=) c.1284A>C (p.Gly428=) c.-441A>C (n.-441A>C) | |
| X | g.108591161A>G | CA517992214 | COL4A5 | c.1269A>G (p.Gly423=) n.725A>G c.945A>G (p.Gly315=) c.1284A>G (p.Gly428=) c.-441A>G (n.-441A>G) | |
| X | g.108591161A>T | CA517992213 | COL4A5 | c.1269A>T (p.Gly423=) n.725A>T c.945A>T (p.Gly315=) c.1284A>T (p.Gly428=) c.-441A>T (n.-441A>T) | |
| X | g.108591162C>A | CA413932795 | COL4A5 | c.1270C>A (p.Leu424Ile) n.726C>A c.946C>A (p.Leu316Ile) c.1285C>A (p.Leu429Ile) c.-440C>A (n.-440C>A) | |
| X | g.108591162C>G | CA413932807 | COL4A5 | c.1270C>G (p.Leu424Val) n.726C>G c.946C>G (p.Leu316Val) c.1285C>G (p.Leu429Val) c.-440C>G (n.-440C>G) | |
| X | g.108591162C>T | CA413932811 | COL4A5 | c.1270C>T (p.Leu424Phe) n.726C>T c.946C>T (p.Leu316Phe) c.1285C>T (p.Leu429Phe) c.-440C>T (n.-440C>T) | |
| X | g.108591163T>A | CA413932819 | COL4A5 | c.1271T>A (p.Leu424His) n.727T>A c.947T>A (p.Leu316His) c.1286T>A (p.Leu429His) c.-439T>A (n.-439T>A) | |
| X | g.108591163T>C | CA413932815 | COL4A5 | c.1271T>C (p.Leu424Pro) n.727T>C c.947T>C (p.Leu316Pro) c.1286T>C (p.Leu429Pro) c.-439T>C (n.-439T>C) | |
| X | g.108591163T>G | CA413932814 | COL4A5 | c.1271T>G (p.Leu424Arg) n.727T>G c.947T>G (p.Leu316Arg) c.1286T>G (p.Leu429Arg) c.-439T>G (n.-439T>G) | |
| X | g.108591164T>A | CA517992215 | COL4A5 | c.1272T>A (p.Leu424=) n.728T>A c.948T>A (p.Leu316=) c.1287T>A (p.Leu429=) c.-438T>A (n.-438T>A) | |
| X | g.108591164T>C | CA517992216 | COL4A5 | c.1272T>C (p.Leu424=) n.728T>C c.948T>C (p.Leu316=) c.1287T>C (p.Leu429=) c.-438T>C (n.-438T>C) | |
| X | g.108591164T>G | CA517992217 | COL4A5 | c.1272T>G (p.Leu424=) n.728T>G c.948T>G (p.Leu316=) c.1287T>G (p.Leu429=) c.-438T>G (n.-438T>G) | |
| X | g.108591165G>A | CA413932823 | COL4A5 | c.1273G>A (p.Asp425Asn) n.729G>A c.949G>A (p.Asp317Asn) c.1288G>A (p.Asp430Asn) c.-437G>A (n.-437G>A) | |
| X | g.108591165G>C | CA413932827 | COL4A5 | c.1273G>C (p.Asp425His) n.729G>C c.949G>C (p.Asp317His) c.1288G>C (p.Asp430His) c.-437G>C (n.-437G>C) | |
| X | g.108591165G>T | CA413932826 | COL4A5 | c.1273G>T (p.Asp425Tyr) n.729G>T c.949G>T (p.Asp317Tyr) c.1288G>T (p.Asp430Tyr) c.-437G>T (n.-437G>T) | |
| X | g.108591166A>C | CA413932828 | COL4A5 | c.1274A>C (p.Asp425Ala) n.730A>C c.950A>C (p.Asp317Ala) c.1289A>C (p.Asp430Ala) c.-436A>C (n.-436A>C) | |
| X | g.108591166A>G | CA413932830 | COL4A5 | c.1274A>G (p.Asp425Gly) n.730A>G c.950A>G (p.Asp317Gly) c.1289A>G (p.Asp430Gly) c.-436A>G (n.-436A>G) | |
| X | g.108591166A>T | CA413932833 | COL4A5 | c.1274A>T (p.Asp425Val) n.730A>T c.950A>T (p.Asp317Val) c.1289A>T (p.Asp430Val) c.-436A>T (n.-436A>T) | |
| X | g.108591167C>A | CA413932836 | COL4A5 | c.1275C>A (p.Asp425Glu) n.731C>A c.951C>A (p.Asp317Glu) c.1290C>A (p.Asp430Glu) c.-435C>A (n.-435C>A) | |
| X | g.108591167C= | CA2450686424 | COL4A5 | c.1275C= (p.Asp425=) n.731C= c.951C= (p.Asp317=) c.1290C= (p.Asp430=) c.-435C= (n.-435C=) | |
| X | g.108591167C>G | CA413932841 | COL4A5 | c.1275C>G (p.Asp425Glu) n.731C>G c.951C>G (p.Asp317Glu) c.1290C>G (p.Asp430Glu) c.-435C>G (n.-435C>G) | |
| X | g.108591167C>T | CA10488700 | COL4A5 | c.1275C>T (p.Asp425=) n.731C>T c.951C>T (p.Asp317=) c.1290C>T (p.Asp430=) c.-435C>T (n.-435C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591168G>A | CA258449 | COL4A5 | c.1276G>A (p.Gly426Arg) n.732G>A c.952G>A (p.Gly318Arg) c.1291G>A (p.Gly431Arg) c.-434G>A (n.-434G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.108591168G>C | CA413932850 | COL4A5 | c.1276G>C (p.Gly426Arg) n.732G>C c.952G>C (p.Gly318Arg) c.1291G>C (p.Gly431Arg) c.-434G>C (n.-434G>C) | |
| X | g.108591168G= | CA2450686425 | COL4A5 | c.1276G= (p.Gly426=) n.732G= c.952G= (p.Gly318=) c.1291G= (p.Gly431=) c.-434G= (n.-434G=) | |
| X | g.108591168G>T | CA413932856 | COL4A5 | c.1276G>T (p.Gly426Ter) n.732G>T c.952G>T (p.Gly318Ter) c.1291G>T (p.Gly431Ter) c.-434G>T (n.-434G>T) | ClinVar dbSNP |
| X | g.108591169dup | CA2695235602 | COL4A5 | c.1277dup (p.Gln427ThrfsTer21) n.733dup c.953dup (p.Gln319ThrfsTer21) c.1292dup (p.Gln432ThrfsTer21) c.-433dup (n.-433dup) | |
| X | g.108591169G>A | CA413932860 | COL4A5 | c.1277G>A (p.Gly426Glu) n.733G>A c.953G>A (p.Gly318Glu) c.1292G>A (p.Gly431Glu) c.-433G>A (n.-433G>A) | |
| X | g.108591169G>C | CA413932862 | COL4A5 | c.1277G>C (p.Gly426Ala) n.733G>C c.953G>C (p.Gly318Ala) c.1292G>C (p.Gly431Ala) c.-433G>C (n.-433G>C) | |
| X | g.108591169G>T | CA413932875 | COL4A5 | c.1277G>T (p.Gly426Val) n.733G>T c.953G>T (p.Gly318Val) c.1292G>T (p.Gly431Val) c.-433G>T (n.-433G>T) | |
| X | g.108591170A>C | CA517992218 | COL4A5 | c.1278A>C (p.Gly426=) n.734A>C c.954A>C (p.Gly318=) c.1293A>C (p.Gly431=) c.-432A>C (n.-432A>C) | |
| X | g.108591170A>G | CA517992219 | COL4A5 | c.1278A>G (p.Gly426=) n.734A>G c.954A>G (p.Gly318=) c.1293A>G (p.Gly431=) c.-432A>G (n.-432A>G) | |
| X | g.108591170A>T | CA517992220 | COL4A5 | c.1278A>T (p.Gly426=) n.734A>T c.954A>T (p.Gly318=) c.1293A>T (p.Gly431=) c.-432A>T (n.-432A>T) | ClinVar |
| X | g.108591171C>A | CA413932878 | COL4A5 | c.1279C>A (p.Gln427Lys) n.735C>A c.955C>A (p.Gln319Lys) c.1294C>A (p.Gln432Lys) c.-431C>A (n.-431C>A) | |
| X | g.108591171C= | CA2450686426 | COL4A5 | c.1279C= (p.Gln427=) n.735C= c.955C= (p.Gln319=) c.1294C= (p.Gln432=) c.-431C= (n.-431C=) | |
| X | g.108591171C>G | CA413932876 | COL4A5 | c.1279C>G (p.Gln427Glu) n.735C>G c.955C>G (p.Gln319Glu) c.1294C>G (p.Gln432Glu) c.-431C>G (n.-431C>G) | |
| X | g.108591171C>T | CA413932877 | COL4A5 | c.1279C>T (p.Gln427Ter) n.735C>T c.955C>T (p.Gln319Ter) c.1294C>T (p.Gln432Ter) c.-431C>T (n.-431C>T) | |
| X | g.108591172A= | CA2580701028 | COL4A5 | c.1280A= (p.Gln427=) n.736A= c.956A= (p.Gln319=) c.1295A= (p.Gln432=) c.-430A= (n.-430A=) | |
| X | g.108591172A>C | CA413932879 | COL4A5 | c.1280A>C (p.Gln427Pro) n.736A>C c.956A>C (p.Gln319Pro) c.1295A>C (p.Gln432Pro) c.-430A>C (n.-430A>C) | |
| X | g.108591172A>G | CA413932881 | COL4A5 | c.1280A>G (p.Gln427Arg) n.736A>G c.956A>G (p.Gln319Arg) c.1295A>G (p.Gln432Arg) c.-430A>G (n.-430A>G) | |
| X | g.108591172A>T | CA413932883 | COL4A5 | c.1280A>T (p.Gln427Leu) n.736A>T c.956A>T (p.Gln319Leu) c.1295A>T (p.Gln432Leu) c.-430A>T (n.-430A>T) | |
| X | g.108591172dup | CA258452 | COL4A5 | c.1280dup (p.Pro428AlafsTer20) n.736dup c.956dup (p.Pro320AlafsTer20) c.1295dup (p.Pro433AlafsTer20) c.-430dup (n.-430dup) | dbSNP |
| X | g.108591173G>A | CA517992221 | COL4A5 | c.1281G>A (p.Gln427=) n.737G>A c.957G>A (p.Gln319=) c.1296G>A (p.Gln432=) c.-429G>A (n.-429G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108591173G>C | CA413932886 | COL4A5 | c.1281G>C (p.Gln427His) n.737G>C c.957G>C (p.Gln319His) c.1296G>C (p.Gln432His) c.-429G>C (n.-429G>C) | |
| X | g.108591173G= | CA2450686427 | COL4A5 | c.1281G= (p.Gln427=) n.737G= c.957G= (p.Gln319=) c.1296G= (p.Gln432=) c.-429G= (n.-429G=) | |
| X | g.108591173G>T | CA413932890 | COL4A5 | c.1281G>T (p.Gln427His) n.737G>T c.957G>T (p.Gln319His) c.1296G>T (p.Gln432His) c.-429G>T (n.-429G>T) | |
| X | g.108591174C>A | CA413932892 | COL4A5 | c.1282C>A (p.Pro428Thr) n.738C>A c.958C>A (p.Pro320Thr) c.1297C>A (p.Pro433Thr) c.-428C>A (n.-428C>A) | |
| X | g.108591174C>G | CA413932897 | COL4A5 | c.1282C>G (p.Pro428Ala) n.738C>G c.958C>G (p.Pro320Ala) c.1297C>G (p.Pro433Ala) c.-428C>G (n.-428C>G) | |
| X | g.108591174C>T | CA413932900 | COL4A5 | c.1282C>T (p.Pro428Ser) n.738C>T c.958C>T (p.Pro320Ser) c.1297C>T (p.Pro433Ser) c.-428C>T (n.-428C>T) | |
| X | g.108591175C>A | CA413932904 | COL4A5 | c.1283C>A (p.Pro428His) n.739C>A c.959C>A (p.Pro320His) c.1298C>A (p.Pro433His) c.-427C>A (n.-427C>A) | |
| X | g.108591175C= | CA2450686428 | COL4A5 | c.1283C= (p.Pro428=) n.739C= c.959C= (p.Pro320=) c.1298C= (p.Pro433=) c.-427C= (n.-427C=) | |
| X | g.108591175C>G | CA10488701 | COL4A5 | c.1283C>G (p.Pro428Arg) n.739C>G c.959C>G (p.Pro320Arg) c.1298C>G (p.Pro433Arg) c.-427C>G (n.-427C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591175C>T | CA413932932 | COL4A5 | c.1283C>T (p.Pro428Leu) n.739C>T c.959C>T (p.Pro320Leu) c.1298C>T (p.Pro433Leu) c.-427C>T (n.-427C>T) | |
| X | g.108591176T>A | CA517992222 | COL4A5 | c.1284T>A (p.Pro428=) n.740T>A c.960T>A (p.Pro320=) c.1299T>A (p.Pro433=) c.-426T>A (n.-426T>A) | |
| X | g.108591176T>C | CA10488702 | COL4A5 | c.1284T>C (p.Pro428=) n.740T>C c.960T>C (p.Pro320=) c.1299T>C (p.Pro433=) c.-426T>C (n.-426T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591176T>G | CA517992223 | COL4A5 | c.1284T>G (p.Pro428=) n.740T>G c.960T>G (p.Pro320=) c.1299T>G (p.Pro433=) c.-426T>G (n.-426T>G) | |
| X | g.108591176T= | CA2450686429 | COL4A5 | c.1284T= (p.Pro428=) n.740T= c.960T= (p.Pro320=) c.1299T= (p.Pro433=) c.-426T= (n.-426T=) | |
| X | g.108591176_108591177delinsTG | CA2450686430 | COL4A5 | c.1284_1285delinsTG (p.Pro428=) n.740_741delinsTG c.960_961delinsTG (p.Pro320=) c.1299_1300delinsTG (p.Pro433=) c.-426_-425delinsTG (n.-426_-425delinsTG) | |
| X | g.108591177G>A | CA413932946 | COL4A5 | c.1285G>A (p.Gly429Arg) n.741G>A c.961G>A (p.Gly321Arg) c.1300G>A (p.Gly434Arg) c.-425G>A (n.-425G>A) | |
| X | g.108591177G>C | CA413932944 | COL4A5 | c.1285G>C (p.Gly429Arg) n.741G>C c.961G>C (p.Gly321Arg) c.1300G>C (p.Gly434Arg) c.-425G>C (n.-425G>C) | |
| X | g.108591177G>T | CA413932940 | COL4A5 | c.1285G>T (p.Gly429Trp) n.741G>T c.961G>T (p.Gly321Trp) c.1300G>T (p.Gly434Trp) c.-425G>T (n.-425G>T) | |
| X | g.108591180dup | CA334182245 | COL4A5 | c.1288dup (p.Ala430GlyfsTer18) n.744dup c.964dup (p.Ala322GlyfsTer18) c.1303dup (p.Ala435GlyfsTer18) c.-422dup (n.-422dup) | dbSNP |
| X | g.108591180del | CA2450686431 | COL4A5 | c.1288del (p.Ala430LeufsTer?) n.744del c.964del (p.Ala322LeufsTer?) c.1303del (p.Ala435LeufsTer?) c.-422del (n.-422del) | dbSNP |
| X | g.108591180_108591197dup | CA2694411164 | COL4A5 | c.1288_1305dup (p.Gly435_Pro436insAlaProGlyLeuProGly) n.744_761dup c.964_981dup (p.Gly327_Pro328insAlaProGlyLeuProGly) c.1303_1320dup (p.Gly440_Pro441insAlaProGlyLeuProGly) c.-422_-405dup (n.-422_-405dup) | gnomAD v4 |
| X | g.108591178G>A | CA258453 | COL4A5 | c.1286G>A (p.Gly429Glu) n.742G>A c.962G>A (p.Gly321Glu) c.1301G>A (p.Gly434Glu) c.-424G>A (n.-424G>A) | ClinVar dbSNP |
| X | g.108591178G>C | CA413932950 | COL4A5 | c.1286G>C (p.Gly429Ala) n.742G>C c.962G>C (p.Gly321Ala) c.1301G>C (p.Gly434Ala) c.-424G>C (n.-424G>C) | |
| X | g.108591178G= | CA2450686432 | COL4A5 | c.1286G= (p.Gly429=) n.742G= c.962G= (p.Gly321=) c.1301G= (p.Gly434=) c.-424G= (n.-424G=) | |
| X | g.108591178G>T | CA413932953 | COL4A5 | c.1286G>T (p.Gly429Val) n.742G>T c.962G>T (p.Gly321Val) c.1301G>T (p.Gly434Val) c.-424G>T (n.-424G>T) | |
| X | g.108591179G>A | CA517992224 | COL4A5 | c.1287G>A (p.Gly429=) n.743G>A c.963G>A (p.Gly321=) c.1302G>A (p.Gly434=) c.-423G>A (n.-423G>A) | |
| X | g.108591179G>C | CA517992225 | COL4A5 | c.1287G>C (p.Gly429=) n.743G>C c.963G>C (p.Gly321=) c.1302G>C (p.Gly434=) c.-423G>C (n.-423G>C) | |
| X | g.108591179G= | CA2450686433 | COL4A5 | c.1287G= (p.Gly429=) n.743G= c.963G= (p.Gly321=) c.1302G= (p.Gly434=) c.-423G= (n.-423G=) | |
| X | g.108591179G>T | CA10488703 | COL4A5 | c.1287G>T (p.Gly429=) n.743G>T c.963G>T (p.Gly321=) c.1302G>T (p.Gly434=) c.-423G>T (n.-423G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591180G>A | CA413932969 | COL4A5 | c.1288G>A (p.Ala430Thr) n.744G>A c.964G>A (p.Ala322Thr) c.1303G>A (p.Ala435Thr) c.-422G>A (n.-422G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591180G>C | CA413932972 | COL4A5 | c.1288G>C (p.Ala430Pro) n.744G>C c.964G>C (p.Ala322Pro) c.1303G>C (p.Ala435Pro) c.-422G>C (n.-422G>C) | dbSNP |
| X | g.108591180G= | CA2450686434 | COL4A5 | c.1288G= (p.Ala430=) n.744G= c.964G= (p.Ala322=) c.1303G= (p.Ala435=) c.-422G= (n.-422G=) | |
| X | g.108591180G>T | CA413932976 | COL4A5 | c.1288G>T (p.Ala430Ser) n.744G>T c.964G>T (p.Ala322Ser) c.1303G>T (p.Ala435Ser) c.-422G>T (n.-422G>T) | dbSNP gnomAD v4 |
| X | g.108591181C>A | CA10488704 | COL4A5 | c.1289C>A (p.Ala430Asp) n.745C>A c.965C>A (p.Ala322Asp) c.1304C>A (p.Ala435Asp) c.-421C>A (n.-421C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591181C= | CA2450686435 | COL4A5 | c.1289C= (p.Ala430=) n.745C= c.965C= (p.Ala322=) c.1304C= (p.Ala435=) c.-421C= (n.-421C=) | |
| X | g.108591181C>G | CA413932986 | COL4A5 | c.1289C>G (p.Ala430Gly) n.745C>G c.965C>G (p.Ala322Gly) c.1304C>G (p.Ala435Gly) c.-421C>G (n.-421C>G) | |
| X | g.108591181C>T | CA10488705 | COL4A5 | c.1289C>T (p.Ala430Val) n.745C>T c.965C>T (p.Ala322Val) c.1304C>T (p.Ala435Val) c.-421C>T (n.-421C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591182T>A | CA517992227 | COL4A5 | c.1290T>A (p.Ala430=) n.746T>A c.966T>A (p.Ala322=) c.1305T>A (p.Ala435=) c.-420T>A (n.-420T>A) | |
| X | g.108591182T>C | CA517992228 | COL4A5 | c.1290T>C (p.Ala430=) n.746T>C c.966T>C (p.Ala322=) c.1305T>C (p.Ala435=) c.-420T>C (n.-420T>C) | |
| X | g.108591182T>G | CA517992226 | COL4A5 | c.1290T>G (p.Ala430=) n.746T>G c.966T>G (p.Ala322=) c.1305T>G (p.Ala435=) c.-420T>G (n.-420T>G) | |
| X | g.108591183C>A | CA413932990 | COL4A5 | c.1291C>A (p.Pro431Thr) n.747C>A c.967C>A (p.Pro323Thr) c.1306C>A (p.Pro436Thr) c.-419C>A (n.-419C>A) | |
| X | g.108591183C>G | CA413932992 | COL4A5 | c.1291C>G (p.Pro431Ala) n.747C>G c.967C>G (p.Pro323Ala) c.1306C>G (p.Pro436Ala) c.-419C>G (n.-419C>G) | |
| X | g.108591183C>T | CA413932993 | COL4A5 | c.1291C>T (p.Pro431Ser) n.747C>T c.967C>T (p.Pro323Ser) c.1306C>T (p.Pro436Ser) c.-419C>T (n.-419C>T) | |
| X | g.108591184C>A | CA413932999 | COL4A5 | c.1292C>A (p.Pro431His) n.748C>A c.968C>A (p.Pro323His) c.1307C>A (p.Pro436His) c.-418C>A (n.-418C>A) | |
| X | g.108591184C>G | CA413933003 | COL4A5 | c.1292C>G (p.Pro431Arg) n.748C>G c.968C>G (p.Pro323Arg) c.1307C>G (p.Pro436Arg) c.-418C>G (n.-418C>G) | |
| X | g.108591184C>T | CA413932996 | COL4A5 | c.1292C>T (p.Pro431Leu) n.748C>T c.968C>T (p.Pro323Leu) c.1307C>T (p.Pro436Leu) c.-418C>T (n.-418C>T) | COSMIC COSMIC |
| X | g.108591185del | CA2697544711 | COL4A5 | c.1293del (p.Leu433PhefsTer?) n.749del c.969del (p.Leu325PhefsTer?) c.1308del (p.Leu438PhefsTer?) c.-417del (n.-417del) | ClinVar |
| X | g.108591185T>A | CA517992229 | COL4A5 | c.1293T>A (p.Pro431=) n.749T>A c.969T>A (p.Pro323=) c.1308T>A (p.Pro436=) c.-417T>A (n.-417T>A) | |
| X | g.108591185T>C | CA334182250 | COL4A5 | c.1293T>C (p.Pro431=) n.749T>C c.969T>C (p.Pro323=) c.1308T>C (p.Pro436=) c.-417T>C (n.-417T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108591185T>G | CA517992230 | COL4A5 | c.1293T>G (p.Pro431=) n.749T>G c.969T>G (p.Pro323=) c.1308T>G (p.Pro436=) c.-417T>G (n.-417T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591185T= | CA2450686436 | COL4A5 | c.1293T= (p.Pro431=) n.749T= c.969T= (p.Pro323=) c.1308T= (p.Pro436=) c.-417T= (n.-417T=) | |
| X | g.108591186G>A | CA258456 | COL4A5 | c.1294G>A (p.Gly432Arg) n.750G>A c.970G>A (p.Gly324Arg) c.1309G>A (p.Gly437Arg) c.-416G>A (n.-416G>A) | ClinVar dbSNP |
| X | g.108591186G>C | CA413933023 | COL4A5 | c.1294G>C (p.Gly432Arg) n.750G>C c.970G>C (p.Gly324Arg) c.1309G>C (p.Gly437Arg) c.-416G>C (n.-416G>C) | ClinVar |
| X | g.108591186G= | CA2450686437 | COL4A5 | c.1294G= (p.Gly432=) n.750G= c.970G= (p.Gly324=) c.1309G= (p.Gly437=) c.-416G= (n.-416G=) | |
| X | g.108591186G>T | CA413933028 | COL4A5 | c.1294G>T (p.Gly432Trp) n.750G>T c.970G>T (p.Gly324Trp) c.1309G>T (p.Gly437Trp) c.-416G>T (n.-416G>T) | |
| X | g.108591187G>A | CA413933040 | COL4A5 | c.1295G>A (p.Gly432Glu) n.751G>A c.971G>A (p.Gly324Glu) c.1310G>A (p.Gly437Glu) c.-415G>A (n.-415G>A) | ClinVar dbSNP |
| X | g.108591187G>C | CA413933035 | COL4A5 | c.1295G>C (p.Gly432Ala) n.751G>C c.971G>C (p.Gly324Ala) c.1310G>C (p.Gly437Ala) c.-415G>C (n.-415G>C) | |
| X | g.108591187G= | CA2450686438 | COL4A5 | c.1295G= (p.Gly432=) n.751G= c.971G= (p.Gly324=) c.1310G= (p.Gly437=) c.-415G= (n.-415G=) | |
| X | g.108591187G>T | CA413933032 | COL4A5 | c.1295G>T (p.Gly432Val) n.751G>T c.971G>T (p.Gly324Val) c.1310G>T (p.Gly437Val) c.-415G>T (n.-415G>T) | |
| X | g.108591188G>A | CA517992231 | COL4A5 | c.1296G>A (p.Gly432=) n.752G>A c.972G>A (p.Gly324=) c.1311G>A (p.Gly437=) c.-414G>A (n.-414G>A) | |
| X | g.108591188G>C | CA10488706 | COL4A5 | c.1296G>C (p.Gly432=) n.752G>C c.972G>C (p.Gly324=) c.1311G>C (p.Gly437=) c.-414G>C (n.-414G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591188G= | CA2450686439 | COL4A5 | c.1296G= (p.Gly432=) n.752G= c.972G= (p.Gly324=) c.1311G= (p.Gly437=) c.-414G= (n.-414G=) | |
| X | g.108591188G>T | CA517992232 | COL4A5 | c.1296G>T (p.Gly432=) n.752G>T c.972G>T (p.Gly324=) c.1311G>T (p.Gly437=) c.-414G>T (n.-414G>T) | |
| X | g.108591189C>A | CA413933056 | COL4A5 | c.1297C>A (p.Leu433Ile) n.753C>A c.973C>A (p.Leu325Ile) c.1312C>A (p.Leu438Ile) c.-413C>A (n.-413C>A) | |
| X | g.108591189C>G | CA413933059 | COL4A5 | c.1297C>G (p.Leu433Val) n.753C>G c.973C>G (p.Leu325Val) c.1312C>G (p.Leu438Val) c.-413C>G (n.-413C>G) | |
| X | g.108591189C>T | CA413933063 | COL4A5 | c.1297C>T (p.Leu433Phe) n.753C>T c.973C>T (p.Leu325Phe) c.1312C>T (p.Leu438Phe) c.-413C>T (n.-413C>T) | |
| X | g.108591190T>A | CA413933066 | COL4A5 | c.1298T>A (p.Leu433His) n.754T>A c.974T>A (p.Leu325His) c.1313T>A (p.Leu438His) c.-412T>A (n.-412T>A) | |
| X | g.108591190T>C | CA413933070 | COL4A5 | c.1298T>C (p.Leu433Pro) n.754T>C c.974T>C (p.Leu325Pro) c.1313T>C (p.Leu438Pro) c.-412T>C (n.-412T>C) | |
| X | g.108591190T>G | CA413933071 | COL4A5 | c.1298T>G (p.Leu433Arg) n.754T>G c.974T>G (p.Leu325Arg) c.1313T>G (p.Leu438Arg) c.-412T>G (n.-412T>G) | |
| X | g.108591191T>A | CA517992233 | COL4A5 | c.1299T>A (p.Leu433=) n.755T>A c.975T>A (p.Leu325=) c.1314T>A (p.Leu438=) c.-411T>A (n.-411T>A) | |
| X | g.108591191T>C | CA517992234 | COL4A5 | c.1299T>C (p.Leu433=) n.755T>C c.975T>C (p.Leu325=) c.1314T>C (p.Leu438=) c.-411T>C (n.-411T>C) | |
| X | g.108591191T>G | CA517992235 | COL4A5 | c.1299T>G (p.Leu433=) n.755T>G c.975T>G (p.Leu325=) c.1314T>G (p.Leu438=) c.-411T>G (n.-411T>G) | |
| X | g.108591192C>A | CA413933073 | COL4A5 | c.1300C>A (p.Pro434Thr) n.756C>A c.976C>A (p.Pro326Thr) c.1315C>A (p.Pro439Thr) c.-410C>A (n.-410C>A) | gnomAD v4 |
| X | g.108591192C>G | CA413933075 | COL4A5 | c.1300C>G (p.Pro434Ala) n.756C>G c.976C>G (p.Pro326Ala) c.1315C>G (p.Pro439Ala) c.-410C>G (n.-410C>G) | |
| X | g.108591192C>T | CA413933072 | COL4A5 | c.1300C>T (p.Pro434Ser) n.756C>T c.976C>T (p.Pro326Ser) c.1315C>T (p.Pro439Ser) c.-410C>T (n.-410C>T) | |
| X | g.108591193del | CA2695235603 | COL4A5 | c.1301del (p.Pro434GlnfsTer?) n.757del c.977del (p.Pro326GlnfsTer?) c.1316del (p.Pro439GlnfsTer?) c.-409del (n.-409del) | |
| X | g.108591193C>A | CA413933079 | COL4A5 | c.1301C>A (p.Pro434Gln) n.757C>A c.977C>A (p.Pro326Gln) c.1316C>A (p.Pro439Gln) c.-409C>A (n.-409C>A) | |
| X | g.108591193C= | CA2450686440 | COL4A5 | c.1301C= (p.Pro434=) n.757C= c.977C= (p.Pro326=) c.1316C= (p.Pro439=) c.-409C= (n.-409C=) | |
| X | g.108591193C>G | CA334182255 | COL4A5 | c.1301C>G (p.Pro434Arg) n.757C>G c.977C>G (p.Pro326Arg) c.1316C>G (p.Pro439Arg) c.-409C>G (n.-409C>G) | dbSNP |
| X | g.108591193C>T | CA413933080 | COL4A5 | c.1301C>T (p.Pro434Leu) n.757C>T c.977C>T (p.Pro326Leu) c.1316C>T (p.Pro439Leu) c.-409C>T (n.-409C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108591194A= | CA2450686441 | COL4A5 | c.1302A= (p.Pro434=) n.758A= c.978A= (p.Pro326=) c.1317A= (p.Pro439=) c.-408A= (n.-408A=) | |
| X | g.108591194A>C | CA517992236 | COL4A5 | c.1302A>C (p.Pro434=) n.758A>C c.978A>C (p.Pro326=) c.1317A>C (p.Pro439=) c.-408A>C (n.-408A>C) | |
| X | g.108591194A>G | CA10488707 | COL4A5 | c.1302A>G (p.Pro434=) n.758A>G c.978A>G (p.Pro326=) c.1317A>G (p.Pro439=) c.-408A>G (n.-408A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108591194A>T | CA517992237 | COL4A5 | c.1302A>T (p.Pro434=) n.758A>T c.978A>T (p.Pro326=) c.1317A>T (p.Pro439=) c.-408A>T (n.-408A>T) | |
| X | g.108591195G>A | CA413933083 | COL4A5 | c.1303G>A (p.Gly435Arg) n.759G>A c.979G>A (p.Gly327Arg) c.1318G>A (p.Gly440Arg) c.-407G>A (n.-407G>A) | |
| X | g.108591195G>C | CA413933087 | COL4A5 | c.1303G>C (p.Gly435Arg) n.759G>C c.979G>C (p.Gly327Arg) c.1318G>C (p.Gly440Arg) c.-407G>C (n.-407G>C) | |
| X | g.108591195G>T | CA413933088 | COL4A5 | c.1303G>T (p.Gly435Trp) n.759G>T c.979G>T (p.Gly327Trp) c.1318G>T (p.Gly440Trp) c.-407G>T (n.-407G>T) | |
| X | g.108591196G>A | CA413933089 | COL4A5 | c.1304G>A (p.Gly435Glu) n.760G>A c.980G>A (p.Gly327Glu) c.1319G>A (p.Gly440Glu) c.-406G>A (n.-406G>A) | ClinVar |
| X | g.108591196G>C | CA413933090 | COL4A5 | c.1304G>C (p.Gly435Ala) n.760G>C c.980G>C (p.Gly327Ala) c.1319G>C (p.Gly440Ala) c.-406G>C (n.-406G>C) | |
| X | g.108591196G>T | CA413933091 | COL4A5 | c.1304G>T (p.Gly435Val) n.760G>T c.980G>T (p.Gly327Val) c.1319G>T (p.Gly440Val) c.-406G>T (n.-406G>T) | |
| X | g.108591196_108591197delinsTT | CA2573159094 | COL4A5 | c.1304_1305delinsTT (p.Gly435Val) n.760_761delinsTT c.980_981delinsTT (p.Gly327Val) c.1319_1320delinsTT (p.Gly440Val) c.-406_-405delinsTT (n.-406_-405delinsTT) | ClinVar dbSNP |
| X | g.108591200_108591216del | CA2695235604 | COL4A5 | c.1308_1324del (p.Pro437SerfsTer5) n.764_780del c.984_1000del (p.Pro329SerfsTer5) c.1323_1339del (p.Pro442SerfsTer5) c.-402_-386del (n.-402_-386del) | |
| X | g.108591197G>A | CA517992238 | COL4A5 | c.1305G>A (p.Gly435=) n.761G>A c.981G>A (p.Gly327=) c.1320G>A (p.Gly440=) c.-405G>A (n.-405G>A) | |
| X | g.108591197G>C | CA517992239 | COL4A5 | c.1305G>C (p.Gly435=) n.761G>C c.981G>C (p.Gly327=) c.1320G>C (p.Gly440=) c.-405G>C (n.-405G>C) | |
| X | g.108591197G>T | CA517992240 | COL4A5 | c.1305G>T (p.Gly435=) n.761G>T c.981G>T (p.Gly327=) c.1320G>T (p.Gly440=) c.-405G>T (n.-405G>T) | |
| X | g.108591198C>A | CA413933093 | COL4A5 | c.1306C>A (p.Pro436Thr) n.762C>A c.982C>A (p.Pro328Thr) c.1321C>A (p.Pro441Thr) c.-404C>A (n.-404C>A) | |
| X | g.108591198C>G | CA413933097 | COL4A5 | c.1306C>G (p.Pro436Ala) n.762C>G c.982C>G (p.Pro328Ala) c.1321C>G (p.Pro441Ala) c.-404C>G (n.-404C>G) | |
| X | g.108591198C>T | CA413933102 | COL4A5 | c.1306C>T (p.Pro436Ser) n.762C>T c.982C>T (p.Pro328Ser) c.1321C>T (p.Pro441Ser) c.-404C>T (n.-404C>T) | |
| X | g.108591199C>A | CA413933113 | COL4A5 | c.1307C>A (p.Pro436His) n.763C>A c.983C>A (p.Pro328His) c.1322C>A (p.Pro441His) c.-403C>A (n.-403C>A) | |
| X | g.108591199C>G | CA413933108 | COL4A5 | c.1307C>G (p.Pro436Arg) n.763C>G c.983C>G (p.Pro328Arg) c.1322C>G (p.Pro441Arg) c.-403C>G (n.-403C>G) | |
| X | g.108591199C>T | CA413933106 | COL4A5 | c.1307C>T (p.Pro436Leu) n.763C>T c.983C>T (p.Pro328Leu) c.1322C>T (p.Pro441Leu) c.-403C>T (n.-403C>T) | |
| X | g.108591200T>A | CA517992241 | COL4A5 | c.1308T>A (p.Pro436=) n.764T>A c.984T>A (p.Pro328=) c.1323T>A (p.Pro441=) c.-402T>A (n.-402T>A) | gnomAD v4 |
| X | g.108591200T>C | CA517992242 | COL4A5 | c.1308T>C (p.Pro436=) n.764T>C c.984T>C (p.Pro328=) c.1323T>C (p.Pro441=) c.-402T>C (n.-402T>C) | |
| X | g.108591200T>G | CA517992243 | COL4A5 | c.1308T>G (p.Pro436=) n.764T>G c.984T>G (p.Pro328=) c.1323T>G (p.Pro441=) c.-402T>G (n.-402T>G) | |
| X | g.108591201C>A | CA413933117 | COL4A5 | c.1309C>A (p.Pro437Thr) n.765C>A c.985C>A (p.Pro329Thr) c.1324C>A (p.Pro442Thr) c.-401C>A (n.-401C>A) | |
| X | g.108591201C= | CA2450686442 | COL4A5 | c.1309C= (p.Pro437=) n.765C= c.985C= (p.Pro329=) c.1324C= (p.Pro442=) c.-401C= (n.-401C=) | |
| X | g.108591201C>G | CA413933118 | COL4A5 | c.1309C>G (p.Pro437Ala) n.765C>G c.985C>G (p.Pro329Ala) c.1324C>G (p.Pro442Ala) c.-401C>G (n.-401C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108591201C>T | CA413933120 | COL4A5 | c.1309C>T (p.Pro437Ser) n.765C>T c.985C>T (p.Pro329Ser) c.1324C>T (p.Pro442Ser) c.-401C>T (n.-401C>T) | |
| X | g.108591202C>A | CA413933123 | COL4A5 | c.1310C>A (p.Pro437His) n.766C>A c.986C>A (p.Pro329His) c.1325C>A (p.Pro442His) c.-400C>A (n.-400C>A) | |
| X | g.108591202C>G | CA413933126 | COL4A5 | c.1310C>G (p.Pro437Arg) n.766C>G c.986C>G (p.Pro329Arg) c.1325C>G (p.Pro442Arg) c.-400C>G (n.-400C>G) | |
| X | g.108591202C>T | CA413933137 | COL4A5 | c.1310C>T (p.Pro437Leu) n.766C>T c.986C>T (p.Pro329Leu) c.1325C>T (p.Pro442Leu) c.-400C>T (n.-400C>T) | gnomAD v4 COSMIC |
| X | g.108591203T>A | CA517992244 | COL4A5 | c.1311T>A (p.Pro437=) n.767T>A c.987T>A (p.Pro329=) c.1326T>A (p.Pro442=) c.-399T>A (n.-399T>A) | |
| X | g.108591203T>C | CA517992246 | COL4A5 | c.1311T>C (p.Pro437=) n.767T>C c.987T>C (p.Pro329=) c.1326T>C (p.Pro442=) c.-399T>C (n.-399T>C) | gnomAD v4 |
| X | g.108591203T>G | CA517992245 | COL4A5 | c.1311T>G (p.Pro437=) n.767T>G c.987T>G (p.Pro329=) c.1326T>G (p.Pro442=) c.-399T>G (n.-399T>G) | |
| X | g.108591204G>A | CA413933141 | COL4A5 | c.1312G>A (p.Gly438Ser) n.768G>A c.988G>A (p.Gly330Ser) c.1327G>A (p.Gly443Ser) c.-398G>A (n.-398G>A) | |
| X | g.108591204G>C | CA413933155 | COL4A5 | c.1312G>C (p.Gly438Arg) n.768G>C c.988G>C (p.Gly330Arg) c.1327G>C (p.Gly443Arg) c.-398G>C (n.-398G>C) | ClinVar dbSNP |
| X | g.108591204G>T | CA413933156 | COL4A5 | c.1312G>T (p.Gly438Cys) n.768G>T c.988G>T (p.Gly330Cys) c.1327G>T (p.Gly443Cys) c.-398G>T (n.-398G>T) | |
| X | g.108591205G>A | CA413933157 | COL4A5 | c.1313G>A (p.Gly438Asp) n.769G>A c.989G>A (p.Gly330Asp) c.1328G>A (p.Gly443Asp) c.-397G>A (n.-397G>A) | COSMIC |
| X | g.108591205G>C | CA413933158 | COL4A5 | c.1313G>C (p.Gly438Ala) n.769G>C c.989G>C (p.Gly330Ala) c.1328G>C (p.Gly443Ala) c.-397G>C (n.-397G>C) | |
| X | g.108591205G>T | CA413933159 | COL4A5 | c.1313G>T (p.Gly438Val) n.769G>T c.989G>T (p.Gly330Val) c.1328G>T (p.Gly443Val) c.-397G>T (n.-397G>T) |