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.108621821_108621830del | CA261085 | COL4A5 | c.2696_2705del (p.Gly899AspfsTer?) n.2152_2161del c.2372_2381del (p.Gly791AspfsTer?) c.269_278del (p.Gly90AspfsTer?) c.2711_2720del (p.Gly904AspfsTer?) c.1031_1040del (p.Gly344AspfsTer?) | dbSNP |
| X | g.108621830G>A | CA258741 | COL4A5 | c.2705G>A (p.Gly902Glu) n.2161G>A c.2381G>A (p.Gly794Glu) c.278G>A (p.Gly93Glu) c.2720G>A (p.Gly907Glu) c.1040G>A (p.Gly347Glu) | dbSNP |
| X | g.108621830G>C | CA413851966 | COL4A5 | c.2705G>C (p.Gly902Ala) n.2161G>C c.2381G>C (p.Gly794Ala) c.278G>C (p.Gly93Ala) c.2720G>C (p.Gly907Ala) c.1040G>C (p.Gly347Ala) | |
| X | g.108621830G= | CA2450696572 | COL4A5 | c.2705G= (p.Gly902=) n.2161G= c.2381G= (p.Gly794=) c.278G= (p.Gly93=) c.2720G= (p.Gly907=) c.1040G= (p.Gly347=) | |
| X | g.108621830G>T | CA413851964 | COL4A5 | c.2705G>T (p.Gly902Val) n.2161G>T c.2381G>T (p.Gly794Val) c.278G>T (p.Gly93Val) c.2720G>T (p.Gly907Val) c.1040G>T (p.Gly347Val) | |
| X | g.108621831A= | CA2450696573 | COL4A5 | c.2706A= (p.Gly902=) n.2162A= c.2382A= (p.Gly794=) c.279A= (p.Gly93=) c.2721A= (p.Gly907=) c.1041A= (p.Gly347=) | |
| X | g.108621831A>C | CA517924395 | COL4A5 | c.2706A>C (p.Gly902=) n.2162A>C c.2382A>C (p.Gly794=) c.279A>C (p.Gly93=) c.2721A>C (p.Gly907=) c.1041A>C (p.Gly347=) | |
| X | g.108621831A>G | CA517924396 | COL4A5 | c.2706A>G (p.Gly902=) n.2162A>G c.2382A>G (p.Gly794=) c.279A>G (p.Gly93=) c.2721A>G (p.Gly907=) c.1041A>G (p.Gly347=) | |
| X | g.108621831A>T | CA517924394 | COL4A5 | c.2706A>T (p.Gly902=) n.2162A>T c.2382A>T (p.Gly794=) c.279A>T (p.Gly93=) c.2721A>T (p.Gly907=) c.1041A>T (p.Gly347=) | |
| X | g.108621832C>A | CA413851968 | COL4A5 | c.2707C>A (p.Pro903Thr) n.2163C>A c.2383C>A (p.Pro795Thr) c.280C>A (p.Pro94Thr) c.2722C>A (p.Pro908Thr) c.1042C>A (p.Pro348Thr) | gnomAD v4 |
| X | g.108621832C>G | CA413851970 | COL4A5 | c.2707C>G (p.Pro903Ala) n.2163C>G c.2383C>G (p.Pro795Ala) c.280C>G (p.Pro94Ala) c.2722C>G (p.Pro908Ala) c.1042C>G (p.Pro348Ala) | |
| X | g.108621832C>T | CA413851972 | COL4A5 | c.2707C>T (p.Pro903Ser) n.2163C>T c.2383C>T (p.Pro795Ser) c.280C>T (p.Pro94Ser) c.2722C>T (p.Pro908Ser) c.1042C>T (p.Pro348Ser) | |
| X | g.108621833dup | CA258744 | COL4A5 | c.2708dup (p.Pro904SerfsTer19) n.2164dup c.2384dup (p.Pro796SerfsTer19) c.281dup (p.Pro95SerfsTer19) c.2723dup (p.Pro909SerfsTer19) c.1043dup (p.Pro349SerfsTer19) | dbSNP |
| X | g.108621833C>A | CA413851974 | COL4A5 | c.2708C>A (p.Pro903His) n.2164C>A c.2384C>A (p.Pro795His) c.281C>A (p.Pro94His) c.2723C>A (p.Pro908His) c.1043C>A (p.Pro348His) | |
| X | g.108621833C>G | CA413851975 | COL4A5 | c.2708C>G (p.Pro903Arg) n.2164C>G c.2384C>G (p.Pro795Arg) c.281C>G (p.Pro94Arg) c.2723C>G (p.Pro908Arg) c.1043C>G (p.Pro348Arg) | |
| X | g.108621833C>T | CA413851976 | COL4A5 | c.2708C>T (p.Pro903Leu) n.2164C>T c.2384C>T (p.Pro795Leu) c.281C>T (p.Pro94Leu) c.2723C>T (p.Pro908Leu) c.1043C>T (p.Pro348Leu) | |
| X | g.108621834T>A | CA517924402 | COL4A5 | c.2709T>A (p.Pro903=) n.2165T>A c.2385T>A (p.Pro795=) c.282T>A (p.Pro94=) c.2724T>A (p.Pro908=) c.1044T>A (p.Pro348=) | |
| X | g.108621834T>C | CA517924403 | COL4A5 | c.2709T>C (p.Pro903=) n.2165T>C c.2385T>C (p.Pro795=) c.282T>C (p.Pro94=) c.2724T>C (p.Pro908=) c.1044T>C (p.Pro348=) | ClinVar |
| X | g.108621834T>G | CA517924405 | COL4A5 | c.2709T>G (p.Pro903=) n.2165T>G c.2385T>G (p.Pro795=) c.282T>G (p.Pro94=) c.2724T>G (p.Pro908=) c.1044T>G (p.Pro348=) | |
| X | g.108621835C>A | CA413851979 | COL4A5 | c.2710C>A (p.Pro904Thr) n.2166C>A c.2386C>A (p.Pro796Thr) c.283C>A (p.Pro95Thr) c.2725C>A (p.Pro909Thr) c.1045C>A (p.Pro349Thr) | |
| X | g.108621835C= | CA2450696574 | COL4A5 | c.2710C= (p.Pro904=) n.2166C= c.2386C= (p.Pro796=) c.283C= (p.Pro95=) c.2725C= (p.Pro909=) c.1045C= (p.Pro349=) | |
| X | g.108621835C>G | CA413851981 | COL4A5 | c.2710C>G (p.Pro904Ala) n.2166C>G c.2386C>G (p.Pro796Ala) c.283C>G (p.Pro95Ala) c.2725C>G (p.Pro909Ala) c.1045C>G (p.Pro349Ala) | |
| X | g.108621835C>T | CA413851984 | COL4A5 | c.2710C>T (p.Pro904Ser) n.2166C>T c.2386C>T (p.Pro796Ser) c.283C>T (p.Pro95Ser) c.2725C>T (p.Pro909Ser) c.1045C>T (p.Pro349Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.108621836C>A | CA413851987 | COL4A5 | c.2711C>A (p.Pro904Gln) n.2167C>A c.2387C>A (p.Pro796Gln) c.284C>A (p.Pro95Gln) c.2726C>A (p.Pro909Gln) c.1046C>A (p.Pro349Gln) | |
| X | g.108621836C>G | CA413851992 | COL4A5 | c.2711C>G (p.Pro904Arg) n.2167C>G c.2387C>G (p.Pro796Arg) c.284C>G (p.Pro95Arg) c.2726C>G (p.Pro909Arg) c.1046C>G (p.Pro349Arg) | |
| X | g.108621836C>T | CA413852003 | COL4A5 | c.2711C>T (p.Pro904Leu) n.2167C>T c.2387C>T (p.Pro796Leu) c.284C>T (p.Pro95Leu) c.2726C>T (p.Pro909Leu) c.1046C>T (p.Pro349Leu) | COSMIC COSMIC |
| X | g.108621837A>C | CA517924408 | COL4A5 | c.2712A>C (p.Pro904=) n.2168A>C c.2388A>C (p.Pro796=) c.285A>C (p.Pro95=) c.2727A>C (p.Pro909=) c.1047A>C (p.Pro349=) | |
| X | g.108621837A>G | CA517924409 | COL4A5 | c.2712A>G (p.Pro904=) n.2168A>G c.2388A>G (p.Pro796=) c.285A>G (p.Pro95=) c.2727A>G (p.Pro909=) c.1047A>G (p.Pro349=) | |
| X | g.108621837A>T | CA517924411 | COL4A5 | c.2712A>T (p.Pro904=) n.2168A>T c.2388A>T (p.Pro796=) c.285A>T (p.Pro95=) c.2727A>T (p.Pro909=) c.1047A>T (p.Pro349=) | |
| X | g.108621838G>A | CA334050070 | COL4A5 | c.2713G>A (p.Gly905Ser) n.2169G>A c.2389G>A (p.Gly797Ser) c.286G>A (p.Gly96Ser) c.2728G>A (p.Gly910Ser) c.1048G>A (p.Gly350Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108621838G>C | CA413852009 | COL4A5 | c.2713G>C (p.Gly905Arg) n.2169G>C c.2389G>C (p.Gly797Arg) c.286G>C (p.Gly96Arg) c.2728G>C (p.Gly910Arg) c.1048G>C (p.Gly350Arg) | ClinVar dbSNP |
| X | g.108621838G= | CA2450696575 | COL4A5 | c.2713G= (p.Gly905=) n.2169G= c.2389G= (p.Gly797=) c.286G= (p.Gly96=) c.2728G= (p.Gly910=) c.1048G= (p.Gly350=) | |
| X | g.108621838G>T | CA413852007 | COL4A5 | c.2713G>T (p.Gly905Cys) n.2169G>T c.2389G>T (p.Gly797Cys) c.286G>T (p.Gly96Cys) c.2728G>T (p.Gly910Cys) c.1048G>T (p.Gly350Cys) | COSMIC COSMIC |
| X | g.108621839G>A | CA413852012 | COL4A5 | c.2714G>A (p.Gly905Asp) n.2170G>A c.2390G>A (p.Gly797Asp) c.287G>A (p.Gly96Asp) c.2729G>A (p.Gly910Asp) c.1049G>A (p.Gly350Asp) | |
| X | g.108621839G>C | CA413852014 | COL4A5 | c.2714G>C (p.Gly905Ala) n.2170G>C c.2390G>C (p.Gly797Ala) c.287G>C (p.Gly96Ala) c.2729G>C (p.Gly910Ala) c.1049G>C (p.Gly350Ala) | |
| X | g.108621839G= | CA2450696576 | COL4A5 | c.2714G= (p.Gly905=) n.2170G= c.2390G= (p.Gly797=) c.287G= (p.Gly96=) c.2729G= (p.Gly910=) c.1049G= (p.Gly350=) | |
| X | g.108621839G>T | CA413852016 | COL4A5 | c.2714G>T (p.Gly905Val) n.2170G>T c.2390G>T (p.Gly797Val) c.287G>T (p.Gly96Val) c.2729G>T (p.Gly910Val) c.1049G>T (p.Gly350Val) | |
| X | g.108621840C>A | CA517924412 | COL4A5 | c.2715C>A (p.Gly905=) n.2171C>A c.2391C>A (p.Gly797=) c.288C>A (p.Gly96=) c.2730C>A (p.Gly910=) c.1050C>A (p.Gly350=) | |
| X | g.108621840C= | CA2450696577 | COL4A5 | c.2715C= (p.Gly905=) n.2171C= c.2391C= (p.Gly797=) c.288C= (p.Gly96=) c.2730C= (p.Gly910=) c.1050C= (p.Gly350=) | |
| X | g.108621840C>G | CA517924413 | COL4A5 | c.2715C>G (p.Gly905=) n.2171C>G c.2391C>G (p.Gly797=) c.288C>G (p.Gly96=) c.2730C>G (p.Gly910=) c.1050C>G (p.Gly350=) | |
| X | g.108621840C>T | CA517924414 | COL4A5 | c.2715C>T (p.Gly905=) n.2171C>T c.2391C>T (p.Gly797=) c.288C>T (p.Gly96=) c.2730C>T (p.Gly910=) c.1050C>T (p.Gly350=) | ClinVar dbSNP gnomAD v4 |
| X | g.108621841C>A | CA10488967 | COL4A5 | c.2716C>A (p.Pro906Thr) n.2172C>A c.2392C>A (p.Pro798Thr) c.289C>A (p.Pro97Thr) c.2731C>A (p.Pro911Thr) c.1051C>A (p.Pro351Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108621841C= | CA2450696578 | COL4A5 | c.2716C= (p.Pro906=) n.2172C= c.2392C= (p.Pro798=) c.289C= (p.Pro97=) c.2731C= (p.Pro911=) c.1051C= (p.Pro351=) | |
| X | g.108621841C>G | CA413852025 | COL4A5 | c.2716C>G (p.Pro906Ala) n.2172C>G c.2392C>G (p.Pro798Ala) c.289C>G (p.Pro97Ala) c.2731C>G (p.Pro911Ala) c.1051C>G (p.Pro351Ala) | |
| X | g.108621841C>T | CA413852027 | COL4A5 | c.2716C>T (p.Pro906Ser) n.2172C>T c.2392C>T (p.Pro798Ser) c.289C>T (p.Pro97Ser) c.2731C>T (p.Pro911Ser) c.1051C>T (p.Pro351Ser) | |
| X | g.108621842C>A | CA413852033 | COL4A5 | c.2717C>A (p.Pro906Gln) n.2173C>A c.2393C>A (p.Pro798Gln) c.290C>A (p.Pro97Gln) c.2732C>A (p.Pro911Gln) c.1052C>A (p.Pro351Gln) | gnomAD v4 |
| X | g.108621842C= | CA2450696579 | COL4A5 | c.2717C= (p.Pro906=) n.2173C= c.2393C= (p.Pro798=) c.290C= (p.Pro97=) c.2732C= (p.Pro911=) c.1052C= (p.Pro351=) | |
| X | g.108621842C>G | CA10488968 | COL4A5 | c.2717C>G (p.Pro906Arg) n.2173C>G c.2393C>G (p.Pro798Arg) c.290C>G (p.Pro97Arg) c.2732C>G (p.Pro911Arg) c.1052C>G (p.Pro351Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108621842C>T | CA413852044 | COL4A5 | c.2717C>T (p.Pro906Leu) n.2173C>T c.2393C>T (p.Pro798Leu) c.290C>T (p.Pro97Leu) c.2732C>T (p.Pro911Leu) c.1052C>T (p.Pro351Leu) | dbSNP gnomAD v4 |
| X | g.108621843A= | CA2450696580 | COL4A5 | c.2718A= (p.Pro906=) n.2174A= c.2394A= (p.Pro798=) c.291A= (p.Pro97=) c.2733A= (p.Pro911=) c.1053A= (p.Pro351=) |