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