UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108668320_108668505del | CA2695235652 | COL4A5 | c.3606_3790+1del c.3282_3466+1del c.1179_1363+1del c.3621_3805+1del c.1941_2125+1del | |
| X | g.108668496_108668497del | CA2580100190 | COL4A5 | c.3782_3783del (p.Gly1261GlufsTer26) c.3782_3783del (p.Gly1261GlufsTer20) c.3782_3783del (p.Gly1261GlufsTer23) c.3458_3459del (p.Gly1153GlufsTer26) c.3782_3783del (p.Gly1261GlufsTer28) c.1355_1356del (p.Gly452GlufsTer26) c.3797_3798del (p.Gly1266GlufsTer26) c.3797_3798del (p.Gly1266GlufsTer23) c.3797_3798del (p.Gly1266GlufsTer20) c.3797_3798del (p.Gly1266GlufsTer28) c.2117_2118del (p.Gly706GlufsTer26) | ClinVar |
| X | g.108668496G>A | CA258955 | COL4A5 | c.3782G>A (p.Gly1261Glu) c.3458G>A (p.Gly1153Glu) c.1355G>A (p.Gly452Glu) c.3797G>A (p.Gly1266Glu) c.2117G>A (p.Gly706Glu) | ClinVar dbSNP |
| X | g.108668496G>C | CA413849152 | COL4A5 | c.3782G>C (p.Gly1261Ala) c.3458G>C (p.Gly1153Ala) c.1355G>C (p.Gly452Ala) c.3797G>C (p.Gly1266Ala) c.2117G>C (p.Gly706Ala) | |
| X | g.108668496G= | CA2450712990 | COL4A5 | c.3782G= (p.Gly1261=) c.3458G= (p.Gly1153=) c.1355G= (p.Gly452=) c.3797G= (p.Gly1266=) c.2117G= (p.Gly706=) | |
| X | g.108668496G>T | CA413849153 | COL4A5 | c.3782G>T (p.Gly1261Val) c.3458G>T (p.Gly1153Val) c.1355G>T (p.Gly452Val) c.3797G>T (p.Gly1266Val) c.2117G>T (p.Gly706Val) | |
| X | g.108668497G>A | CA517922763 | COL4A5 | c.3783G>A (p.Gly1261=) c.3459G>A (p.Gly1153=) c.1356G>A (p.Gly452=) c.3798G>A (p.Gly1266=) c.2118G>A (p.Gly706=) | COSMIC COSMIC |
| X | g.108668497G>C | CA517922761 | COL4A5 | c.3783G>C (p.Gly1261=) c.3459G>C (p.Gly1153=) c.1356G>C (p.Gly452=) c.3798G>C (p.Gly1266=) c.2118G>C (p.Gly706=) | gnomAD v4 |
| X | g.108668497G>T | CA517922762 | COL4A5 | c.3783G>T (p.Gly1261=) c.3459G>T (p.Gly1153=) c.1356G>T (p.Gly452=) c.3798G>T (p.Gly1266=) c.2118G>T (p.Gly706=) | |
| X | g.108668498del | CA2580100191 | COL4A5 | c.3784del (p.Arg1262AspfsTer?) c.3460del (p.Arg1154AspfsTer?) c.1357del (p.Arg453AspfsTer?) c.3799del (p.Arg1267AspfsTer?) c.2119del (p.Arg707AspfsTer?) | ClinVar |
| X | g.108668498A>C | CA517922764 | COL4A5 | c.3784A>C (p.Arg1262=) c.3460A>C (p.Arg1154=) c.1357A>C (p.Arg453=) c.3799A>C (p.Arg1267=) c.2119A>C (p.Arg707=) | |
| X | g.108668498A>G | CA413849155 | COL4A5 | c.3784A>G (p.Arg1262Gly) c.3460A>G (p.Arg1154Gly) c.1357A>G (p.Arg453Gly) c.3799A>G (p.Arg1267Gly) c.2119A>G (p.Arg707Gly) | |
| X | g.108668498A>T | CA413849157 | COL4A5 | c.3784A>T (p.Arg1262Ter) c.3460A>T (p.Arg1154Ter) c.1357A>T (p.Arg453Ter) c.3799A>T (p.Arg1267Ter) c.2119A>T (p.Arg707Ter) | ClinVar |
| X | g.108668499G>A | CA413849160 | COL4A5 | c.3785G>A (p.Arg1262Lys) c.3461G>A (p.Arg1154Lys) c.1358G>A (p.Arg453Lys) c.3800G>A (p.Arg1267Lys) c.2120G>A (p.Arg707Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668499G>C | CA413849162 | COL4A5 | c.3785G>C (p.Arg1262Thr) c.3461G>C (p.Arg1154Thr) c.1358G>C (p.Arg453Thr) c.3800G>C (p.Arg1267Thr) c.2120G>C (p.Arg707Thr) | |
| X | g.108668499G= | CA2450712991 | COL4A5 | c.3785G= (p.Arg1262=) c.3461G= (p.Arg1154=) c.1358G= (p.Arg453=) c.3800G= (p.Arg1267=) c.2120G= (p.Arg707=) | |
| X | g.108668499G>T | CA413849158 | COL4A5 | c.3785G>T (p.Arg1262Ile) c.3461G>T (p.Arg1154Ile) c.1358G>T (p.Arg453Ile) c.3800G>T (p.Arg1267Ile) c.2120G>T (p.Arg707Ile) | |
| X | g.108668500A>C | CA413849165 | COL4A5 | c.3786A>C (p.Arg1262Ser) c.3462A>C (p.Arg1154Ser) c.1359A>C (p.Arg453Ser) c.3801A>C (p.Arg1267Ser) c.2121A>C (p.Arg707Ser) | |
| X | g.108668500A>G | CA517922765 | COL4A5 | c.3786A>G (p.Arg1262=) c.3462A>G (p.Arg1154=) c.1359A>G (p.Arg453=) c.3801A>G (p.Arg1267=) c.2121A>G (p.Arg707=) | gnomAD v4 |
| X | g.108668500A>T | CA413849163 | COL4A5 | c.3786A>T (p.Arg1262Ser) c.3462A>T (p.Arg1154Ser) c.1359A>T (p.Arg453Ser) c.3801A>T (p.Arg1267Ser) c.2121A>T (p.Arg707Ser) | |
| X | g.108668501C>A | CA413849167 | COL4A5 | c.3787C>A (p.Pro1263Thr) c.3463C>A (p.Pro1155Thr) c.1360C>A (p.Pro454Thr) c.3802C>A (p.Pro1268Thr) c.2122C>A (p.Pro708Thr) | dbSNP |
| X | g.108668501C= | CA2450712992 | COL4A5 | c.3787C= (p.Pro1263=) c.3463C= (p.Pro1155=) c.1360C= (p.Pro454=) c.3802C= (p.Pro1268=) c.2122C= (p.Pro708=) | |
| X | g.108668501C>G | CA413849168 | COL4A5 | c.3787C>G (p.Pro1263Ala) c.3463C>G (p.Pro1155Ala) c.1360C>G (p.Pro454Ala) c.3802C>G (p.Pro1268Ala) c.2122C>G (p.Pro708Ala) | |
| X | g.108668501C>T | CA334047053 | COL4A5 | c.3787C>T (p.Pro1263Ser) c.3463C>T (p.Pro1155Ser) c.1360C>T (p.Pro454Ser) c.3802C>T (p.Pro1268Ser) c.2122C>T (p.Pro708Ser) | ClinVar dbSNP |
| X | g.108668502del | CA2579676919 | COL4A5 | c.3788del (p.Pro1263GlnfsTer?) c.3464del (p.Pro1155GlnfsTer?) c.1361del (p.Pro454GlnfsTer?) c.3803del (p.Pro1268GlnfsTer?) c.2123del (p.Pro708GlnfsTer?) | |
| X | g.108668502C>A | CA413849171 | COL4A5 | c.3788C>A (p.Pro1263Gln) c.3464C>A (p.Pro1155Gln) c.1361C>A (p.Pro454Gln) c.3803C>A (p.Pro1268Gln) c.2123C>A (p.Pro708Gln) | gnomAD v4 |
| X | g.108668502C>G | CA413849173 | COL4A5 | c.3788C>G (p.Pro1263Arg) c.3464C>G (p.Pro1155Arg) c.1361C>G (p.Pro454Arg) c.3803C>G (p.Pro1268Arg) c.2123C>G (p.Pro708Arg) | |
| X | g.108668502C>T | CA413849175 | COL4A5 | c.3788C>T (p.Pro1263Leu) c.3464C>T (p.Pro1155Leu) c.1361C>T (p.Pro454Leu) c.3803C>T (p.Pro1268Leu) c.2123C>T (p.Pro708Leu) | gnomAD v4 |
| X | g.108668503A>C | CA517922766 | COL4A5 | c.3789A>C (p.Pro1263=) c.3465A>C (p.Pro1155=) c.1362A>C (p.Pro454=) c.3804A>C (p.Pro1268=) c.2124A>C (p.Pro708=) | |
| X | g.108668503A>G | CA517922767 | COL4A5 | c.3789A>G (p.Pro1263=) c.3465A>G (p.Pro1155=) c.1362A>G (p.Pro454=) c.3804A>G (p.Pro1268=) c.2124A>G (p.Pro708=) | |
| X | g.108668503A>T | CA517922768 | COL4A5 | c.3789A>T (p.Pro1263=) c.3465A>T (p.Pro1155=) c.1362A>T (p.Pro454=) c.3804A>T (p.Pro1268=) c.2124A>T (p.Pro708=) | |
| X | g.108668503_108668504delinsAG | CA2450712993 | COL4A5 | c.3789_3790delinsAG (p.Pro1263=) c.3465_3466delinsAG (p.Pro1155=) c.1362_1363delinsAG (p.Pro454=) c.3804_3805delinsAG (p.Pro1268=) c.2124_2125delinsAG (p.Pro708=) | |
| X | g.108668504G>A | CA413849176 | COL4A5 | c.3790G>A (p.Gly1264Ser) c.3466G>A (p.Gly1156Ser) c.1363G>A (p.Gly455Ser) c.3805G>A (p.Gly1269Ser) c.2125G>A (p.Gly709Ser) | |
| X | g.108668504G>C | CA413849179 | COL4A5 | c.3790G>C (p.Gly1264Arg) c.3466G>C (p.Gly1156Arg) c.1363G>C (p.Gly455Arg) c.3805G>C (p.Gly1269Arg) c.2125G>C (p.Gly709Arg) | |
| X | g.108668504G>T | CA413849177 | COL4A5 | c.3790G>T (p.Gly1264Cys) c.3466G>T (p.Gly1156Cys) c.1363G>T (p.Gly455Cys) c.3805G>T (p.Gly1269Cys) c.2125G>T (p.Gly709Cys) | |
| X | g.108668505del | CA258957 | COL4A5 | c.3790+1del c.3466+1del c.1363+1del c.3805+1del c.2125+1del | dbSNP |
| X | g.108668505G>A | CA413849181 | COL4A5 | c.3790+1G>A (n.3790+1G>A) c.3466+1G>A (n.3466+1G>A) c.1363+1G>A (n.1363+1G>A) c.3805+1G>A (n.3805+1G>A) c.2125+1G>A (n.2125+1G>A) | |
| X | g.108668505G>C | CA413849182 | COL4A5 | c.3790+1G>C (n.3790+1G>C) c.3466+1G>C (n.3466+1G>C) c.1363+1G>C (n.1363+1G>C) c.3805+1G>C (n.3805+1G>C) c.2125+1G>C (n.2125+1G>C) | |
| X | g.108668505G>T | CA413849183 | COL4A5 | c.3790+1G>T (n.3790+1G>T) c.3466+1G>T (n.3466+1G>T) c.1363+1G>T (n.1363+1G>T) c.3805+1G>T (n.3805+1G>T) c.2125+1G>T (n.2125+1G>T) | |
| X | g.108668506T>A | CA413849184 | COL4A5 | c.3790+2T>A (n.3790+2T>A) c.3466+2T>A (n.3466+2T>A) c.1363+2T>A (n.1363+2T>A) c.3805+2T>A (n.3805+2T>A) c.2125+2T>A (n.2125+2T>A) | |
| X | g.108668506T>C | CA413849186 | COL4A5 | c.3790+2T>C (n.3790+2T>C) c.3466+2T>C (n.3466+2T>C) c.1363+2T>C (n.1363+2T>C) c.3805+2T>C (n.3805+2T>C) c.2125+2T>C (n.2125+2T>C) | |
| X | g.108668506T>G | CA413849185 | COL4A5 | c.3790+2T>G (n.3790+2T>G) c.3466+2T>G (n.3466+2T>G) c.1363+2T>G (n.1363+2T>G) c.3805+2T>G (n.3805+2T>G) c.2125+2T>G (n.2125+2T>G) | |
| X | g.108668509G>A | CA10489167 | COL4A5 | c.3790+5G>A (n.3790+5G>A) c.3466+5G>A (n.3466+5G>A) c.1363+5G>A (n.1363+5G>A) c.3805+5G>A (n.3805+5G>A) c.2125+5G>A (n.2125+5G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108668509G= | CA2450712994 | COL4A5 | c.3790+5G= (n.3790+5G=) c.3466+5G= (n.3466+5G=) c.1363+5G= (n.1363+5G=) c.3805+5G= (n.3805+5G=) c.2125+5G= (n.2125+5G=) | |
| X | g.108668511C>A | CA2558113611 | COL4A5 | c.3790+7C>A (n.3790+7C>A) c.3466+7C>A (n.3466+7C>A) c.1363+7C>A (n.1363+7C>A) c.3805+7C>A (n.3805+7C>A) c.2125+7C>A (n.2125+7C>A) | |
| X | g.108668512C>A | CA10489169 | COL4A5 | c.3790+8C>A (n.3790+8C>A) c.3466+8C>A (n.3466+8C>A) c.1363+8C>A (n.1363+8C>A) c.3805+8C>A (n.3805+8C>A) c.2125+8C>A (n.2125+8C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668512C= | CA2450712995 | COL4A5 | c.3790+8C= (n.3790+8C=) c.3466+8C= (n.3466+8C=) c.1363+8C= (n.1363+8C=) c.3805+8C= (n.3805+8C=) c.2125+8C= (n.2125+8C=) | |
| X | g.108668512C>T | CA10489168 | COL4A5 | c.3790+8C>T (n.3790+8C>T) c.3466+8C>T (n.3466+8C>T) c.1363+8C>T (n.1363+8C>T) c.3805+8C>T (n.3805+8C>T) c.2125+8C>T (n.2125+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108668513G>A | CA10489170 | COL4A5 | c.3790+9G>A (n.3790+9G>A) c.3466+9G>A (n.3466+9G>A) c.1363+9G>A (n.1363+9G>A) c.3805+9G>A (n.3805+9G>A) c.2125+9G>A (n.2125+9G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108668513G= | CA2450712996 | COL4A5 | c.3790+9G= (n.3790+9G=) c.3466+9G= (n.3466+9G=) c.1363+9G= (n.1363+9G=) c.3805+9G= (n.3805+9G=) c.2125+9G= (n.2125+9G=) |