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.108625745del | CA258799 | COL4A5 | c.3057del (p.Ile1020Ter) n.2513del c.290del c.2733del (p.Ile912Ter) c.630del (p.Ile211Ter) c.3072del (p.Ile1025Ter) c.1392del (p.Ile465Ter) | dbSNP |
| X | g.108625745T>A | CA517925361 | COL4A5 | c.3057T>A (p.Leu1019=) n.2513T>A c.290T>A c.2733T>A (p.Leu911=) c.630T>A (p.Leu210=) c.3072T>A (p.Leu1024=) c.1392T>A (p.Leu464=) | gnomAD v4 |
| X | g.108625745T>C | CA517925362 | COL4A5 | c.3057T>C (p.Leu1019=) n.2513T>C c.290T>C c.2733T>C (p.Leu911=) c.630T>C (p.Leu210=) c.3072T>C (p.Leu1024=) c.1392T>C (p.Leu464=) | COSMIC COSMIC |
| X | g.108625745T>G | CA517925363 | COL4A5 | c.3057T>G (p.Leu1019=) n.2513T>G c.290T>G c.2733T>G (p.Leu911=) c.630T>G (p.Leu210=) c.3072T>G (p.Leu1024=) c.1392T>G (p.Leu464=) | |
| X | g.108625746A= | CA2450697904 | COL4A5 | c.3058A= (p.Ile1020=) n.2514A= c.291A= c.2734A= (p.Ile912=) c.631A= (p.Ile211=) c.3073A= (p.Ile1025=) c.1393A= (p.Ile465=) | |
| X | g.108625746A>C | CA413854606 | COL4A5 | c.3058A>C (p.Ile1020Leu) n.2514A>C c.291A>C c.2734A>C (p.Ile912Leu) c.631A>C (p.Ile211Leu) c.3073A>C (p.Ile1025Leu) c.1393A>C (p.Ile465Leu) | |
| X | g.108625746A>G | CA10489025 | COL4A5 | c.3058A>G (p.Ile1020Val) n.2514A>G c.291A>G c.2734A>G (p.Ile912Val) c.631A>G (p.Ile211Val) c.3073A>G (p.Ile1025Val) c.1393A>G (p.Ile465Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108625746A>T | CA413854608 | COL4A5 | c.3058A>T (p.Ile1020Leu) n.2514A>T c.291A>T c.2734A>T (p.Ile912Leu) c.631A>T (p.Ile211Leu) c.3073A>T (p.Ile1025Leu) c.1393A>T (p.Ile465Leu) | |
| X | g.108625747T>A | CA413854610 | COL4A5 | c.3059T>A (p.Ile1020Lys) n.2515T>A c.292T>A c.2735T>A (p.Ile912Lys) c.632T>A (p.Ile211Lys) c.3074T>A (p.Ile1025Lys) c.1394T>A (p.Ile465Lys) | |
| X | g.108625747T>C | CA413854611 | COL4A5 | c.3059T>C (p.Ile1020Thr) n.2515T>C c.292T>C c.2735T>C (p.Ile912Thr) c.632T>C (p.Ile211Thr) c.3074T>C (p.Ile1025Thr) c.1394T>C (p.Ile465Thr) | dbSNP |
| X | g.108625747T>G | CA413854612 | COL4A5 | c.3059T>G (p.Ile1020Arg) n.2515T>G c.292T>G c.2735T>G (p.Ile912Arg) c.632T>G (p.Ile211Arg) c.3074T>G (p.Ile1025Arg) c.1394T>G (p.Ile465Arg) | |
| X | g.108625747T= | CA2450697905 | COL4A5 | c.3059T= (p.Ile1020=) n.2515T= c.292T= c.2735T= (p.Ile912=) c.632T= (p.Ile211=) c.3074T= (p.Ile1025=) c.1394T= (p.Ile465=) | |
| X | g.108625747dup | CA2695235752 | COL4A5 | c.3059dup (p.Gly1021ArgfsTer6) n.2515dup c.292dup c.2735dup (p.Gly913ArgfsTer6) c.632dup (p.Gly212ArgfsTer6) c.3074dup (p.Gly1026ArgfsTer6) c.1394dup (p.Gly466ArgfsTer6) | |
| X | g.108625748A>C | CA517925364 | COL4A5 | c.3060A>C (p.Ile1020=) n.2516A>C c.293A>C c.2736A>C (p.Ile912=) c.633A>C (p.Ile211=) c.3075A>C (p.Ile1025=) c.1395A>C (p.Ile465=) | |
| X | g.108625748A>G | CA413854615 | COL4A5 | c.3060A>G (p.Ile1020Met) n.2516A>G c.293A>G c.2736A>G (p.Ile912Met) c.633A>G (p.Ile211Met) c.3075A>G (p.Ile1025Met) c.1395A>G (p.Ile465Met) | gnomAD v4 |
| X | g.108625748A>T | CA517925365 | COL4A5 | c.3060A>T (p.Ile1020=) n.2516A>T c.293A>T c.2736A>T (p.Ile912=) c.633A>T (p.Ile211=) c.3075A>T (p.Ile1025=) c.1395A>T (p.Ile465=) | |
| X | g.108625749G>A | CA413854617 | COL4A5 | c.3061G>A (p.Gly1021Arg) n.2517G>A c.294G>A c.2737G>A (p.Gly913Arg) c.634G>A (p.Gly212Arg) c.3076G>A (p.Gly1026Arg) c.1396G>A (p.Gly466Arg) | |
| X | g.108625749G>C | CA413854620 | COL4A5 | c.3061G>C (p.Gly1021Arg) n.2517G>C c.294G>C c.2737G>C (p.Gly913Arg) c.634G>C (p.Gly212Arg) c.3076G>C (p.Gly1026Arg) c.1396G>C (p.Gly466Arg) | |
| X | g.108625749G>T | CA413854618 | COL4A5 | c.3061G>T (p.Gly1021Ter) n.2517G>T c.294G>T c.2737G>T (p.Gly913Ter) c.634G>T (p.Gly212Ter) c.3076G>T (p.Gly1026Ter) c.1396G>T (p.Gly466Ter) | |
| X | g.108625750G>A | CA413854623 | COL4A5 | c.3062G>A (p.Gly1021Glu) n.2518G>A c.295G>A c.2738G>A (p.Gly913Glu) c.635G>A (p.Gly212Glu) c.3077G>A (p.Gly1026Glu) c.1397G>A (p.Gly466Glu) | dbSNP |
| X | g.108625750G>C | CA413854625 | COL4A5 | c.3062G>C (p.Gly1021Ala) n.2518G>C c.295G>C c.2738G>C (p.Gly913Ala) c.635G>C (p.Gly212Ala) c.3077G>C (p.Gly1026Ala) c.1397G>C (p.Gly466Ala) | COSMIC |
| X | g.108625750G= | CA2450697906 | COL4A5 | c.3062G= (p.Gly1021=) n.2518G= c.295G= c.2738G= (p.Gly913=) c.635G= (p.Gly212=) c.3077G= (p.Gly1026=) c.1397G= (p.Gly466=) | |
| X | g.108625750G>T | CA413854626 | COL4A5 | c.3062G>T (p.Gly1021Val) n.2518G>T c.295G>T c.2738G>T (p.Gly913Val) c.635G>T (p.Gly212Val) c.3077G>T (p.Gly1026Val) c.1397G>T (p.Gly466Val) | |
| X | g.108625751A= | CA2450697907 | COL4A5 | c.3063A= (p.Gly1021=) n.2519A= c.296A= c.2739A= (p.Gly913=) c.636A= (p.Gly212=) c.3078A= (p.Gly1026=) c.1398A= (p.Gly466=) | |
| X | g.108625751A>C | CA517925366 | COL4A5 | c.3063A>C (p.Gly1021=) n.2519A>C c.296A>C c.2739A>C (p.Gly913=) c.636A>C (p.Gly212=) c.3078A>C (p.Gly1026=) c.1398A>C (p.Gly466=) | gnomAD v4 |
| X | g.108625751A>G | CA517925367 | COL4A5 | c.3063A>G (p.Gly1021=) n.2519A>G c.296A>G c.2739A>G (p.Gly913=) c.636A>G (p.Gly212=) c.3078A>G (p.Gly1026=) c.1398A>G (p.Gly466=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.108625751A>T | CA517925368 | COL4A5 | c.3063A>T (p.Gly1021=) n.2519A>T c.296A>T c.2739A>T (p.Gly913=) c.636A>T (p.Gly212=) c.3078A>T (p.Gly1026=) c.1398A>T (p.Gly466=) | |
| X | g.108625752C>A | CA413854628 | COL4A5 | c.3064C>A (p.Pro1022Thr) n.2520C>A c.297C>A c.2740C>A (p.Pro914Thr) c.637C>A (p.Pro213Thr) c.3079C>A (p.Pro1027Thr) c.1399C>A (p.Pro467Thr) | dbSNP gnomAD v4 |
| X | g.108625752C= | CA2450697908 | COL4A5 | c.3064C= (p.Pro1022=) n.2520C= c.297C= c.2740C= (p.Pro914=) c.637C= (p.Pro213=) c.3079C= (p.Pro1027=) c.1399C= (p.Pro467=) | |
| X | g.108625752C>G | CA413854630 | COL4A5 | c.3064C>G (p.Pro1022Ala) n.2520C>G c.297C>G c.2740C>G (p.Pro914Ala) c.637C>G (p.Pro213Ala) c.3079C>G (p.Pro1027Ala) c.1399C>G (p.Pro467Ala) | |
| X | g.108625752C>T | CA413854632 | COL4A5 | c.3064C>T (p.Pro1022Ser) n.2520C>T c.297C>T c.2740C>T (p.Pro914Ser) c.637C>T (p.Pro213Ser) c.3079C>T (p.Pro1027Ser) c.1399C>T (p.Pro467Ser) | gnomAD v4 |
| X | g.108625753C>A | CA334052342 | COL4A5 | c.3065C>A (p.Pro1022His) n.2521C>A c.298C>A c.2741C>A (p.Pro914His) c.638C>A (p.Pro213His) c.3080C>A (p.Pro1027His) c.1400C>A (p.Pro467His) | dbSNP |
| X | g.108625753C= | CA2450697909 | COL4A5 | c.3065C= (p.Pro1022=) n.2521C= c.298C= c.2741C= (p.Pro914=) c.638C= (p.Pro213=) c.3080C= (p.Pro1027=) c.1400C= (p.Pro467=) | |
| X | g.108625753C>G | CA413854634 | COL4A5 | c.3065C>G (p.Pro1022Arg) n.2521C>G c.298C>G c.2741C>G (p.Pro914Arg) c.638C>G (p.Pro213Arg) c.3080C>G (p.Pro1027Arg) c.1400C>G (p.Pro467Arg) | |
| X | g.108625753C>T | CA413854636 | COL4A5 | c.3065C>T (p.Pro1022Leu) n.2521C>T c.298C>T c.2741C>T (p.Pro914Leu) c.638C>T (p.Pro213Leu) c.3080C>T (p.Pro1027Leu) c.1400C>T (p.Pro467Leu) | |
| X | g.108625754T>A | CA517925369 | COL4A5 | c.3066T>A (p.Pro1022=) n.2522T>A c.299T>A c.2742T>A (p.Pro914=) c.639T>A (p.Pro213=) c.3081T>A (p.Pro1027=) c.1401T>A (p.Pro467=) | |
| X | g.108625754T>C | CA517925370 | COL4A5 | c.3066T>C (p.Pro1022=) n.2522T>C c.299T>C c.2742T>C (p.Pro914=) c.639T>C (p.Pro213=) c.3081T>C (p.Pro1027=) c.1401T>C (p.Pro467=) | |
| X | g.108625754T>G | CA517925372 | COL4A5 | c.3066T>G (p.Pro1022=) n.2522T>G c.299T>G c.2742T>G (p.Pro914=) c.639T>G (p.Pro213=) c.3081T>G (p.Pro1027=) c.1401T>G (p.Pro467=) | |
| X | g.108625755C>A | CA10489026 | COL4A5 | c.3067C>A (p.Pro1023Thr) n.2523C>A c.300C>A c.2743C>A (p.Pro915Thr) c.640C>A (p.Pro214Thr) c.3082C>A (p.Pro1028Thr) c.1402C>A (p.Pro468Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108625755C= | CA2450697910 | COL4A5 | c.3067C= (p.Pro1023=) n.2523C= c.300C= c.2743C= (p.Pro915=) c.640C= (p.Pro214=) c.3082C= (p.Pro1028=) c.1402C= (p.Pro468=) | |
| X | g.108625755C>G | CA413854638 | COL4A5 | c.3067C>G (p.Pro1023Ala) n.2523C>G c.300C>G c.2743C>G (p.Pro915Ala) c.640C>G (p.Pro214Ala) c.3082C>G (p.Pro1028Ala) c.1402C>G (p.Pro468Ala) | gnomAD v4 |
| X | g.108625755C>T | CA413854640 | COL4A5 | c.3067C>T (p.Pro1023Ser) n.2523C>T c.300C>T c.2743C>T (p.Pro915Ser) c.640C>T (p.Pro214Ser) c.3082C>T (p.Pro1028Ser) c.1402C>T (p.Pro468Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.108625756C>A | CA413854644 | COL4A5 | c.3068C>A (p.Pro1023His) n.2524C>A c.301C>A c.2744C>A (p.Pro915His) c.641C>A (p.Pro214His) c.3083C>A (p.Pro1028His) c.1403C>A (p.Pro468His) | |
| X | g.108625756C>G | CA413854646 | COL4A5 | c.3068C>G (p.Pro1023Arg) n.2524C>G c.301C>G c.2744C>G (p.Pro915Arg) c.641C>G (p.Pro214Arg) c.3083C>G (p.Pro1028Arg) c.1403C>G (p.Pro468Arg) | |
| X | g.108625756C>T | CA413854642 | COL4A5 | c.3068C>T (p.Pro1023Leu) n.2524C>T c.301C>T c.2744C>T (p.Pro915Leu) c.641C>T (p.Pro214Leu) c.3083C>T (p.Pro1028Leu) c.1403C>T (p.Pro468Leu) | |
| X | g.108625757T>A | CA517925373 | COL4A5 | c.3069T>A (p.Pro1023=) n.2525T>A c.302T>A c.2745T>A (p.Pro915=) c.642T>A (p.Pro214=) c.3084T>A (p.Pro1028=) c.1404T>A (p.Pro468=) | |
| X | g.108625757T>C | CA517925374 | COL4A5 | c.3069T>C (p.Pro1023=) n.2525T>C c.302T>C c.2745T>C (p.Pro915=) c.642T>C (p.Pro214=) c.3084T>C (p.Pro1028=) c.1404T>C (p.Pro468=) | dbSNP gnomAD v4 |
| X | g.108625757T>G | CA517925375 | COL4A5 | c.3069T>G (p.Pro1023=) n.2525T>G c.302T>G c.2745T>G (p.Pro915=) c.642T>G (p.Pro214=) c.3084T>G (p.Pro1028=) c.1404T>G (p.Pro468=) | COSMIC |
| X | g.108625757T= | CA2450697911 | COL4A5 | c.3069T= (p.Pro1023=) n.2525T= c.302T= c.2745T= (p.Pro915=) c.642T= (p.Pro214=) c.3084T= (p.Pro1028=) c.1404T= (p.Pro468=) | |
| X | g.108625758G>A | CA413854648 | COL4A5 | c.3070G>A (p.Gly1024Arg) n.2526G>A c.303G>A c.2746G>A (p.Gly916Arg) c.643G>A (p.Gly215Arg) c.3085G>A (p.Gly1029Arg) c.1405G>A (p.Gly469Arg) |