WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108621871A= | CA2450696589 | COL4A5 | c.2746A= (p.Ser916=) n.2202A= c.2422A= (p.Ser808=) c.319A= (p.Ser107=) c.2761A= (p.Ser921=) c.1081A= (p.Ser361=) | |
| X | g.108621871A>C | CA413852201 | COL4A5 | c.2746A>C (p.Ser916Arg) n.2202A>C c.2422A>C (p.Ser808Arg) c.319A>C (p.Ser107Arg) c.2761A>C (p.Ser921Arg) c.1081A>C (p.Ser361Arg) | |
| X | g.108621871A>G | CA258753 | COL4A5 | c.2746A>G (p.Ser916Gly) n.2202A>G c.2422A>G (p.Ser808Gly) c.319A>G (p.Ser107Gly) c.2761A>G (p.Ser921Gly) c.1081A>G (p.Ser361Gly) | dbSNP |
| X | g.108621871A>T | CA413852205 | COL4A5 | c.2746A>T (p.Ser916Cys) n.2202A>T c.2422A>T (p.Ser808Cys) c.319A>T (p.Ser107Cys) c.2761A>T (p.Ser921Cys) c.1081A>T (p.Ser361Cys) | |
| X | g.108621871_108621883delinsAGTGGTGTACCTG | CA2450696591 | COL4A5 | c.2746_2758delinsAGTGGTGTACCTG (p.Ser916=) n.2202_2214delinsAGTGGTGTACCTG c.2422_2434delinsAGTGGTGTACCTG (p.Ser808=) c.319_331delinsAGTGGTGTACCTG (p.Ser107=) c.2761_2773delinsAGTGGTGTACCTG (p.Ser921=) c.1081_1093delinsAGTGGTGTACCTG (p.Ser361=) | |
| X | g.108621871_108621884delinsAGTGGTGTACCTGG | CA2450696590 | COL4A5 | c.2746_2759delinsAGTGGTGTACCTGG (p.Ser916=) n.2202_2215delinsAGTGGTGTACCTGG c.2422_2435delinsAGTGGTGTACCTGG (p.Ser808=) c.319_332delinsAGTGGTGTACCTGG (p.Ser107=) c.2761_2774delinsAGTGGTGTACCTGG (p.Ser921=) c.1081_1094delinsAGTGGTGTACCTGG (p.Ser361=) | |
| X | g.108621872G>A | CA10488970 | COL4A5 | c.2747G>A (p.Ser916Asn) n.2203G>A c.2423G>A (p.Ser808Asn) c.320G>A (p.Ser107Asn) c.2762G>A (p.Ser921Asn) c.1082G>A (p.Ser361Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108621872G>C | CA413852209 | COL4A5 | c.2747G>C (p.Ser916Thr) n.2203G>C c.2423G>C (p.Ser808Thr) c.320G>C (p.Ser107Thr) c.2762G>C (p.Ser921Thr) c.1082G>C (p.Ser361Thr) | |
| X | g.108621872G= | CA2450696592 | COL4A5 | c.2747G= (p.Ser916=) n.2203G= c.2423G= (p.Ser808=) c.320G= (p.Ser107=) c.2762G= (p.Ser921=) c.1082G= (p.Ser361=) | |
| X | g.108621872G>T | CA413852210 | COL4A5 | c.2747G>T (p.Ser916Ile) n.2203G>T c.2423G>T (p.Ser808Ile) c.320G>T (p.Ser107Ile) c.2762G>T (p.Ser921Ile) c.1082G>T (p.Ser361Ile) | |
| X | g.108621872_108621883delinsT | CA891843944 | COL4A5 | c.2747_2758delinsT (p.Ser916MetfsTer3) n.2203_2214delinsT c.2423_2434delinsT (p.Ser808MetfsTer3) c.320_331delinsT (p.Ser107MetfsTer3) c.2762_2773delinsT (p.Ser921MetfsTer3) c.1082_1093delinsT (p.Ser361MetfsTer3) | |
| X | g.108621872_108621884delinsAT | CA334050113 | COL4A5 | c.2747_2759delinsAT (p.Ser916AsnfsTer3) n.2203_2215delinsAT c.2423_2435delinsAT (p.Ser808AsnfsTer3) c.320_332delinsAT (p.Ser107AsnfsTer3) c.2762_2774delinsAT (p.Ser921AsnfsTer3) c.1082_1094delinsAT (p.Ser361AsnfsTer3) | dbSNP |
| X | g.108621873T>A | CA413852216 | COL4A5 | c.2748T>A (p.Ser916Arg) n.2204T>A c.2424T>A (p.Ser808Arg) c.321T>A (p.Ser107Arg) c.2763T>A (p.Ser921Arg) c.1083T>A (p.Ser361Arg) | |
| X | g.108621873T>C | CA517924469 | COL4A5 | c.2748T>C (p.Ser916=) n.2204T>C c.2424T>C (p.Ser808=) c.321T>C (p.Ser107=) c.2763T>C (p.Ser921=) c.1083T>C (p.Ser361=) | |
| X | g.108621873T>G | CA413852211 | COL4A5 | c.2748T>G (p.Ser916Arg) n.2204T>G c.2424T>G (p.Ser808Arg) c.321T>G (p.Ser107Arg) c.2763T>G (p.Ser921Arg) c.1083T>G (p.Ser361Arg) | |
| X | g.108621874G>A | CA413852219 | COL4A5 | c.2749G>A (p.Gly917Ser) n.2205G>A c.2425G>A (p.Gly809Ser) c.322G>A (p.Gly108Ser) c.2764G>A (p.Gly922Ser) c.1084G>A (p.Gly362Ser) | ClinVar |
| X | g.108621874G>C | CA413852226 | COL4A5 | c.2749G>C (p.Gly917Arg) n.2205G>C c.2425G>C (p.Gly809Arg) c.322G>C (p.Gly108Arg) c.2764G>C (p.Gly922Arg) c.1084G>C (p.Gly362Arg) | |
| X | g.108621874G>T | CA413852223 | COL4A5 | c.2749G>T (p.Gly917Cys) n.2205G>T c.2425G>T (p.Gly809Cys) c.322G>T (p.Gly108Cys) c.2764G>T (p.Gly922Cys) c.1084G>T (p.Gly362Cys) | |
| X | g.108621875G>A | CA413852235 | COL4A5 | c.2750G>A (p.Gly917Asp) n.2206G>A c.2426G>A (p.Gly809Asp) c.323G>A (p.Gly108Asp) c.2765G>A (p.Gly922Asp) c.1085G>A (p.Gly362Asp) | ClinVar gnomAD v4 |
| X | g.108621875G>C | CA413852246 | COL4A5 | c.2750G>C (p.Gly917Ala) n.2206G>C c.2426G>C (p.Gly809Ala) c.323G>C (p.Gly108Ala) c.2765G>C (p.Gly922Ala) c.1085G>C (p.Gly362Ala) | |
| X | g.108621875G>T | CA413852237 | COL4A5 | c.2750G>T (p.Gly917Val) n.2206G>T c.2426G>T (p.Gly809Val) c.323G>T (p.Gly108Val) c.2765G>T (p.Gly922Val) c.1085G>T (p.Gly362Val) | COSMIC COSMIC |
| X | g.108621876T>A | CA517924473 | COL4A5 | c.2751T>A (p.Gly917=) n.2207T>A c.2427T>A (p.Gly809=) c.324T>A (p.Gly108=) c.2766T>A (p.Gly922=) c.1086T>A (p.Gly362=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108621876T>C | CA10488971 | COL4A5 | c.2751T>C (p.Gly917=) n.2207T>C c.2427T>C (p.Gly809=) c.324T>C (p.Gly108=) c.2766T>C (p.Gly922=) c.1086T>C (p.Gly362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108621876T>G | CA517924475 | COL4A5 | c.2751T>G (p.Gly917=) n.2207T>G c.2427T>G (p.Gly809=) c.324T>G (p.Gly108=) c.2766T>G (p.Gly922=) c.1086T>G (p.Gly362=) | |
| X | g.108621876T= | CA2450696593 | COL4A5 | c.2751T= (p.Gly917=) n.2207T= c.2427T= (p.Gly809=) c.324T= (p.Gly108=) c.2766T= (p.Gly922=) c.1086T= (p.Gly362=) | |
| X | g.108621877G>A | CA10488972 | COL4A5 | c.2752G>A (p.Val918Ile) n.2208G>A c.2428G>A (p.Val810Ile) c.325G>A (p.Val109Ile) c.2767G>A (p.Val923Ile) c.1087G>A (p.Val363Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108621877G>C | CA413852257 | COL4A5 | c.2752G>C (p.Val918Leu) n.2208G>C c.2428G>C (p.Val810Leu) c.325G>C (p.Val109Leu) c.2767G>C (p.Val923Leu) c.1087G>C (p.Val363Leu) | |
| X | g.108621877G= | CA2450696594 | COL4A5 | c.2752G= (p.Val918=) n.2208G= c.2428G= (p.Val810=) c.325G= (p.Val109=) c.2767G= (p.Val923=) c.1087G= (p.Val363=) | |
| X | g.108621877G>T | CA413852259 | COL4A5 | c.2752G>T (p.Val918Leu) n.2208G>T c.2428G>T (p.Val810Leu) c.325G>T (p.Val109Leu) c.2767G>T (p.Val923Leu) c.1087G>T (p.Val363Leu) | |
| X | g.108621878T>A | CA413852261 | COL4A5 | c.2753T>A (p.Val918Glu) n.2209T>A c.2429T>A (p.Val810Glu) c.326T>A (p.Val109Glu) c.2768T>A (p.Val923Glu) c.1088T>A (p.Val363Glu) | |
| X | g.108621878T>C | CA413852263 | COL4A5 | c.2753T>C (p.Val918Ala) n.2209T>C c.2429T>C (p.Val810Ala) c.326T>C (p.Val109Ala) c.2768T>C (p.Val923Ala) c.1088T>C (p.Val363Ala) | gnomAD v4 |
| X | g.108621878T>G | CA413852264 | COL4A5 | c.2753T>G (p.Val918Gly) n.2209T>G c.2429T>G (p.Val810Gly) c.326T>G (p.Val109Gly) c.2768T>G (p.Val923Gly) c.1088T>G (p.Val363Gly) | |
| X | g.108621879A= | CA2450696595 | COL4A5 | c.2754A= (p.Val918=) n.2210A= c.2430A= (p.Val810=) c.327A= (p.Val109=) c.2769A= (p.Val923=) c.1089A= (p.Val363=) | |
| X | g.108621879A>C | CA517924481 | COL4A5 | c.2754A>C (p.Val918=) n.2210A>C c.2430A>C (p.Val810=) c.327A>C (p.Val109=) c.2769A>C (p.Val923=) c.1089A>C (p.Val363=) | |
| X | g.108621879A>G | CA517924482 | COL4A5 | c.2754A>G (p.Val918=) n.2210A>G c.2430A>G (p.Val810=) c.327A>G (p.Val109=) c.2769A>G (p.Val923=) c.1089A>G (p.Val363=) | ClinVar dbSNP gnomAD v4 |
| X | g.108621879A>T | CA517924483 | COL4A5 | c.2754A>T (p.Val918=) n.2210A>T c.2430A>T (p.Val810=) c.327A>T (p.Val109=) c.2769A>T (p.Val923=) c.1089A>T (p.Val363=) | |
| X | g.108621880C>A | CA413852267 | COL4A5 | c.2755C>A (p.Pro919Thr) n.2211C>A c.2431C>A (p.Pro811Thr) c.328C>A (p.Pro110Thr) c.2770C>A (p.Pro924Thr) c.1090C>A (p.Pro364Thr) | |
| X | g.108621880C>G | CA413852269 | COL4A5 | c.2755C>G (p.Pro919Ala) n.2211C>G c.2431C>G (p.Pro811Ala) c.328C>G (p.Pro110Ala) c.2770C>G (p.Pro924Ala) c.1090C>G (p.Pro364Ala) | |
| X | g.108621880C>T | CA413852271 | COL4A5 | c.2755C>T (p.Pro919Ser) n.2211C>T c.2431C>T (p.Pro811Ser) c.328C>T (p.Pro110Ser) c.2770C>T (p.Pro924Ser) c.1090C>T (p.Pro364Ser) | |
| X | g.108621881C>A | CA413852282 | COL4A5 | c.2756C>A (p.Pro919His) n.2212C>A c.2432C>A (p.Pro811His) c.329C>A (p.Pro110His) c.2771C>A (p.Pro924His) c.1091C>A (p.Pro364His) | |
| X | g.108621881C>G | CA413852285 | COL4A5 | c.2756C>G (p.Pro919Arg) n.2212C>G c.2432C>G (p.Pro811Arg) c.329C>G (p.Pro110Arg) c.2771C>G (p.Pro924Arg) c.1091C>G (p.Pro364Arg) | |
| X | g.108621881C>T | CA413852286 | COL4A5 | c.2756C>T (p.Pro919Leu) n.2212C>T c.2432C>T (p.Pro811Leu) c.329C>T (p.Pro110Leu) c.2771C>T (p.Pro924Leu) c.1091C>T (p.Pro364Leu) | |
| X | g.108621882T>A | CA517924489 | COL4A5 | c.2757T>A (p.Pro919=) n.2213T>A c.2433T>A (p.Pro811=) c.330T>A (p.Pro110=) c.2772T>A (p.Pro924=) c.1092T>A (p.Pro364=) | |
| X | g.108621882T>C | CA517924490 | COL4A5 | c.2757T>C (p.Pro919=) n.2213T>C c.2433T>C (p.Pro811=) c.330T>C (p.Pro110=) c.2772T>C (p.Pro924=) c.1092T>C (p.Pro364=) | ClinVar dbSNP |
| X | g.108621882T>G | CA517924491 | COL4A5 | c.2757T>G (p.Pro919=) n.2213T>G c.2433T>G (p.Pro811=) c.330T>G (p.Pro110=) c.2772T>G (p.Pro924=) c.1092T>G (p.Pro364=) | |
| X | g.108621883G>A | CA413852287 | COL4A5 | c.2758G>A (p.Gly920Ser) n.2214G>A c.2434G>A (p.Gly812Ser) c.331G>A (p.Gly111Ser) c.2773G>A (p.Gly925Ser) c.1093G>A (p.Gly365Ser) | |
| X | g.108621883G>C | CA413852289 | COL4A5 | c.2758G>C (p.Gly920Arg) n.2214G>C c.2434G>C (p.Gly812Arg) c.331G>C (p.Gly111Arg) c.2773G>C (p.Gly925Arg) c.1093G>C (p.Gly365Arg) | |
| X | g.108621883G>T | CA413852288 | COL4A5 | c.2758G>T (p.Gly920Cys) n.2214G>T c.2434G>T (p.Gly812Cys) c.331G>T (p.Gly111Cys) c.2773G>T (p.Gly925Cys) c.1093G>T (p.Gly365Cys) | |
| X | g.108621884G>A | CA413852292 | COL4A5 | c.2759G>A (p.Gly920Asp) n.2215G>A c.2435G>A (p.Gly812Asp) c.332G>A (p.Gly111Asp) c.2774G>A (p.Gly925Asp) c.1094G>A (p.Gly365Asp) | |
| X | g.108621884G>C | CA413852294 | COL4A5 | c.2759G>C (p.Gly920Ala) n.2215G>C c.2435G>C (p.Gly812Ala) c.332G>C (p.Gly111Ala) c.2774G>C (p.Gly925Ala) c.1094G>C (p.Gly365Ala) |