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