| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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) |