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.108622696C>A | CA413852583 | COL4A5 | c.2788C>A (p.Gln930Lys) n.2244C>A c.21C>A c.2464C>A (p.Gln822Lys) c.361C>A (p.Gln121Lys) c.2803C>A (p.Gln935Lys) c.1123C>A (p.Gln375Lys) | |
| X | g.108622696C= | CA2450696855 | COL4A5 | c.2788C= (p.Gln930=) n.2244C= c.21C= c.2464C= (p.Gln822=) c.361C= (p.Gln121=) c.2803C= (p.Gln935=) c.1123C= (p.Gln375=) | |
| X | g.108622696C>G | CA413852585 | COL4A5 | c.2788C>G (p.Gln930Glu) n.2244C>G c.21C>G c.2464C>G (p.Gln822Glu) c.361C>G (p.Gln121Glu) c.2803C>G (p.Gln935Glu) c.1123C>G (p.Gln375Glu) | |
| X | g.108622696C>T | CA258762 | COL4A5 | c.2788C>T (p.Gln930Ter) n.2244C>T c.21C>T c.2464C>T (p.Gln822Ter) c.361C>T (p.Gln121Ter) c.2803C>T (p.Gln935Ter) c.1123C>T (p.Gln375Ter) | dbSNP |
| X | g.108622697A>C | CA413852591 | COL4A5 | c.2789A>C (p.Gln930Pro) n.2245A>C c.22A>C c.2465A>C (p.Gln822Pro) c.362A>C (p.Gln121Pro) c.2804A>C (p.Gln935Pro) c.1124A>C (p.Gln375Pro) | |
| X | g.108622697A>G | CA413852589 | COL4A5 | c.2789A>G (p.Gln930Arg) n.2245A>G c.22A>G c.2465A>G (p.Gln822Arg) c.362A>G (p.Gln121Arg) c.2804A>G (p.Gln935Arg) c.1124A>G (p.Gln375Arg) | |
| X | g.108622697A>T | CA413852588 | COL4A5 | c.2789A>T (p.Gln930Leu) n.2245A>T c.22A>T c.2465A>T (p.Gln822Leu) c.362A>T (p.Gln121Leu) c.2804A>T (p.Gln935Leu) c.1124A>T (p.Gln375Leu) | COSMIC COSMIC |
| X | g.108622698G>A | CA517924728 | COL4A5 | c.2790G>A (p.Gln930=) n.2246G>A c.23G>A c.2466G>A (p.Gln822=) c.363G>A (p.Gln121=) c.2805G>A (p.Gln935=) c.1125G>A (p.Gln375=) | ClinVar gnomAD v4 |
| X | g.108622698G>C | CA413852593 | COL4A5 | c.2790G>C (p.Gln930His) n.2246G>C c.23G>C c.2466G>C (p.Gln822His) c.363G>C (p.Gln121His) c.2805G>C (p.Gln935His) c.1125G>C (p.Gln375His) | |
| X | g.108622698G>T | CA413852595 | COL4A5 | c.2790G>T (p.Gln930His) n.2246G>T c.23G>T c.2466G>T (p.Gln822His) c.363G>T (p.Gln121His) c.2805G>T (p.Gln935His) c.1125G>T (p.Gln375His) | |
| X | g.108622699C>A | CA413852597 | COL4A5 | c.2791C>A (p.Pro931Thr) n.2247C>A c.24C>A c.2467C>A (p.Pro823Thr) c.364C>A (p.Pro122Thr) c.2806C>A (p.Pro936Thr) c.1126C>A (p.Pro376Thr) | |
| X | g.108622699C>G | CA413852599 | COL4A5 | c.2791C>G (p.Pro931Ala) n.2247C>G c.24C>G c.2467C>G (p.Pro823Ala) c.364C>G (p.Pro122Ala) c.2806C>G (p.Pro936Ala) c.1126C>G (p.Pro376Ala) | |
| X | g.108622699C>T | CA413852601 | COL4A5 | c.2791C>T (p.Pro931Ser) n.2247C>T c.24C>T c.2467C>T (p.Pro823Ser) c.364C>T (p.Pro122Ser) c.2806C>T (p.Pro936Ser) c.1126C>T (p.Pro376Ser) | |
| X | g.108622700C>A | CA413852602 | COL4A5 | c.2792C>A (p.Pro931Gln) n.2248C>A c.25C>A c.2468C>A (p.Pro823Gln) c.365C>A (p.Pro122Gln) c.2807C>A (p.Pro936Gln) c.1127C>A (p.Pro376Gln) | |
| X | g.108622700C>G | CA413852604 | COL4A5 | c.2792C>G (p.Pro931Arg) n.2248C>G c.25C>G c.2468C>G (p.Pro823Arg) c.365C>G (p.Pro122Arg) c.2807C>G (p.Pro936Arg) c.1127C>G (p.Pro376Arg) | |
| X | g.108622700C>T | CA413852606 | COL4A5 | c.2792C>T (p.Pro931Leu) n.2248C>T c.25C>T c.2468C>T (p.Pro823Leu) c.365C>T (p.Pro122Leu) c.2807C>T (p.Pro936Leu) c.1127C>T (p.Pro376Leu) | gnomAD v4 |
| X | g.108622701A= | CA2450696856 | COL4A5 | c.2793A= (p.Pro931=) n.2249A= c.26A= c.2469A= (p.Pro823=) c.366A= (p.Pro122=) c.2808A= (p.Pro936=) c.1128A= (p.Pro376=) | |
| X | g.108622701A>C | CA517924729 | COL4A5 | c.2793A>C (p.Pro931=) n.2249A>C c.26A>C c.2469A>C (p.Pro823=) c.366A>C (p.Pro122=) c.2808A>C (p.Pro936=) c.1128A>C (p.Pro376=) | |
| X | g.108622701A>G | CA517924730 | COL4A5 | c.2793A>G (p.Pro931=) n.2249A>G c.26A>G c.2469A>G (p.Pro823=) c.366A>G (p.Pro122=) c.2808A>G (p.Pro936=) c.1128A>G (p.Pro376=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.108622701A>T | CA517924731 | COL4A5 | c.2793A>T (p.Pro931=) n.2249A>T c.26A>T c.2469A>T (p.Pro823=) c.366A>T (p.Pro122=) c.2808A>T (p.Pro936=) c.1128A>T (p.Pro376=) | |
| X | g.108622702G>A | CA413852608 | COL4A5 | c.2794G>A (p.Gly932Arg) n.2250G>A c.27G>A c.2470G>A (p.Gly824Arg) c.367G>A (p.Gly123Arg) c.2809G>A (p.Gly937Arg) c.1129G>A (p.Gly377Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.108622702G>C | CA413852610 | COL4A5 | c.2794G>C (p.Gly932Arg) n.2250G>C c.27G>C c.2470G>C (p.Gly824Arg) c.367G>C (p.Gly123Arg) c.2809G>C (p.Gly937Arg) c.1129G>C (p.Gly377Arg) | ClinVar |
| X | g.108622702G>T | CA413852612 | COL4A5 | c.2794G>T (p.Gly932Ter) n.2250G>T c.27G>T c.2470G>T (p.Gly824Ter) c.367G>T (p.Gly123Ter) c.2809G>T (p.Gly937Ter) c.1129G>T (p.Gly377Ter) | |
| X | g.108622703G>A | CA413852617 | COL4A5 | c.2795G>A (p.Gly932Glu) n.2251G>A c.28G>A c.2471G>A (p.Gly824Glu) c.368G>A (p.Gly123Glu) c.2810G>A (p.Gly937Glu) c.1130G>A (p.Gly377Glu) | |
| X | g.108622703G>C | CA413852615 | COL4A5 | c.2795G>C (p.Gly932Ala) n.2251G>C c.28G>C c.2471G>C (p.Gly824Ala) c.368G>C (p.Gly123Ala) c.2810G>C (p.Gly937Ala) c.1130G>C (p.Gly377Ala) | |
| X | g.108622703G>T | CA413852614 | COL4A5 | c.2795G>T (p.Gly932Val) n.2251G>T c.28G>T c.2471G>T (p.Gly824Val) c.368G>T (p.Gly123Val) c.2810G>T (p.Gly937Val) c.1130G>T (p.Gly377Val) | |
| X | g.108622704del | CA2552964910 | COL4A5 | c.2796del (p.Leu933PhefsTer?) n.2252del c.29del c.2472del (p.Leu825PhefsTer?) c.369del (p.Leu124PhefsTer?) c.2811del (p.Leu938PhefsTer?) c.1131del (p.Leu378PhefsTer?) | |
| X | g.108622704A>C | CA517924732 | COL4A5 | c.2796A>C (p.Gly932=) n.2252A>C c.29A>C c.2472A>C (p.Gly824=) c.369A>C (p.Gly123=) c.2811A>C (p.Gly937=) c.1131A>C (p.Gly377=) | |
| X | g.108622704A>G | CA517924733 | COL4A5 | c.2796A>G (p.Gly932=) n.2252A>G c.29A>G c.2472A>G (p.Gly824=) c.369A>G (p.Gly123=) c.2811A>G (p.Gly937=) c.1131A>G (p.Gly377=) | |
| X | g.108622704A>T | CA517924734 | COL4A5 | c.2796A>T (p.Gly932=) n.2252A>T c.29A>T c.2472A>T (p.Gly824=) c.369A>T (p.Gly123=) c.2811A>T (p.Gly937=) c.1131A>T (p.Gly377=) | |
| X | g.108622705C>A | CA413852619 | COL4A5 | c.2797C>A (p.Leu933Ile) n.2253C>A c.30C>A c.2473C>A (p.Leu825Ile) c.370C>A (p.Leu124Ile) c.2812C>A (p.Leu938Ile) c.1132C>A (p.Leu378Ile) | |
| X | g.108622705C= | CA2450696857 | COL4A5 | c.2797C= (p.Leu933=) n.2253C= c.30C= c.2473C= (p.Leu825=) c.370C= (p.Leu124=) c.2812C= (p.Leu938=) c.1132C= (p.Leu378=) | |
| X | g.108622705C>G | CA413852620 | COL4A5 | c.2797C>G (p.Leu933Val) n.2253C>G c.30C>G c.2473C>G (p.Leu825Val) c.370C>G (p.Leu124Val) c.2812C>G (p.Leu938Val) c.1132C>G (p.Leu378Val) | |
| X | g.108622705C>T | CA10488988 | COL4A5 | c.2797C>T (p.Leu933Phe) n.2253C>T c.30C>T c.2473C>T (p.Leu825Phe) c.370C>T (p.Leu124Phe) c.2812C>T (p.Leu938Phe) c.1132C>T (p.Leu378Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108622706T>A | CA413852624 | COL4A5 | c.2798T>A (p.Leu933His) n.2254T>A c.31T>A c.2474T>A (p.Leu825His) c.371T>A (p.Leu124His) c.2813T>A (p.Leu938His) c.1133T>A (p.Leu378His) | |
| X | g.108622706T>C | CA413852625 | COL4A5 | c.2798T>C (p.Leu933Pro) n.2254T>C c.31T>C c.2474T>C (p.Leu825Pro) c.371T>C (p.Leu124Pro) c.2813T>C (p.Leu938Pro) c.1133T>C (p.Leu378Pro) | |
| X | g.108622706T>G | CA413852627 | COL4A5 | c.2798T>G (p.Leu933Arg) n.2254T>G c.31T>G c.2474T>G (p.Leu825Arg) c.371T>G (p.Leu124Arg) c.2813T>G (p.Leu938Arg) c.1133T>G (p.Leu378Arg) | |
| X | g.108622707T>A | CA517924737 | COL4A5 | c.2799T>A (p.Leu933=) n.2255T>A c.32T>A c.2475T>A (p.Leu825=) c.372T>A (p.Leu124=) c.2814T>A (p.Leu938=) c.1134T>A (p.Leu378=) | |
| X | g.108622707T>C | CA517924735 | COL4A5 | c.2799T>C (p.Leu933=) n.2255T>C c.32T>C c.2475T>C (p.Leu825=) c.372T>C (p.Leu124=) c.2814T>C (p.Leu938=) c.1134T>C (p.Leu378=) | ClinVar |
| X | g.108622707T>G | CA517924736 | COL4A5 | c.2799T>G (p.Leu933=) n.2255T>G c.32T>G c.2475T>G (p.Leu825=) c.372T>G (p.Leu124=) c.2814T>G (p.Leu938=) c.1134T>G (p.Leu378=) | |
| X | g.108622707_108622759del | CA2566557330 | COL4A5 | c.2799_2851del (p.Pro934SerfsTer?) n.2255_2307del c.32_84del c.2475_2527del (p.Pro826SerfsTer?) c.372_424del (p.Pro125SerfsTer?) c.2814_2866del (p.Pro939SerfsTer?) c.1134_1186del (p.Pro379SerfsTer?) | |
| X | g.108622708C>A | CA413852629 | COL4A5 | c.2800C>A (p.Pro934Thr) n.2256C>A c.33C>A c.2476C>A (p.Pro826Thr) c.373C>A (p.Pro125Thr) c.2815C>A (p.Pro939Thr) c.1135C>A (p.Pro379Thr) | |
| X | g.108622708C>G | CA413852631 | COL4A5 | c.2800C>G (p.Pro934Ala) n.2256C>G c.33C>G c.2476C>G (p.Pro826Ala) c.373C>G (p.Pro125Ala) c.2815C>G (p.Pro939Ala) c.1135C>G (p.Pro379Ala) | |
| X | g.108622708C>T | CA413852632 | COL4A5 | c.2800C>T (p.Pro934Ser) n.2256C>T c.33C>T c.2476C>T (p.Pro826Ser) c.373C>T (p.Pro125Ser) c.2815C>T (p.Pro939Ser) c.1135C>T (p.Pro379Ser) | COSMIC |
| X | g.108622709del | CA2739290541 | COL4A5 | c.2801del (p.Pro934LeufsTer?) n.2257del c.34del c.2477del (p.Pro826LeufsTer?) c.374del (p.Pro125LeufsTer?) c.2816del (p.Pro939LeufsTer?) c.1136del (p.Pro379LeufsTer?) | |
| X | g.108622711_108622716del | CA2695235223 | COL4A5 | c.2803_2808del (p.Gly935_Pro936del) n.2259_2264del c.36_41del c.2479_2484del (p.Gly827_Pro828del) c.376_381del (p.Gly126_Pro127del) c.2818_2823del (p.Gly940_Pro941del) c.1138_1143del (p.Gly380_Pro381del) | |
| X | g.108622709C>A | CA413852634 | COL4A5 | c.2801C>A (p.Pro934His) n.2257C>A c.34C>A c.2477C>A (p.Pro826His) c.374C>A (p.Pro125His) c.2816C>A (p.Pro939His) c.1136C>A (p.Pro379His) | |
| X | g.108622709C= | CA2450696858 | COL4A5 | c.2801C= (p.Pro934=) n.2257C= c.34C= c.2477C= (p.Pro826=) c.374C= (p.Pro125=) c.2816C= (p.Pro939=) c.1136C= (p.Pro379=) | |
| X | g.108622709C>G | CA413852636 | COL4A5 | c.2801C>G (p.Pro934Arg) n.2257C>G c.34C>G c.2477C>G (p.Pro826Arg) c.374C>G (p.Pro125Arg) c.2816C>G (p.Pro939Arg) c.1136C>G (p.Pro379Arg) | |
| X | g.108622709C>T | CA413852638 | COL4A5 | c.2801C>T (p.Pro934Leu) n.2257C>T c.34C>T c.2477C>T (p.Pro826Leu) c.374C>T (p.Pro125Leu) c.2816C>T (p.Pro939Leu) c.1136C>T (p.Pro379Leu) |