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