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 |
|---|---|---|---|---|---|
| 2 | g.237350177T>A | CA431676549 | COL6A3 | c.6231A>T (p.Gly2077=) c.6849A>T (p.Gly2283=) c.5028A>T (p.Gly1676=) n.1103A>T c.6249A>T (p.Gly2083=) c.5628A>T (p.Gly1876=) c.6348A>T (p.Gly2116=) c.6846A>T (p.Gly2282=) c.4443A>T (p.Gly1481=) | |
| 2 | g.237350177T>C | CA431676547 | COL6A3 | c.6231A>G (p.Gly2077=) c.6849A>G (p.Gly2283=) c.5028A>G (p.Gly1676=) n.1103A>G c.6249A>G (p.Gly2083=) c.5628A>G (p.Gly1876=) c.6348A>G (p.Gly2116=) c.6846A>G (p.Gly2282=) c.4443A>G (p.Gly1481=) | |
| 2 | g.237350177T>G | CA431676548 | COL6A3 | c.6231A>C (p.Gly2077=) c.6849A>C (p.Gly2283=) c.5028A>C (p.Gly1676=) n.1103A>C c.6249A>C (p.Gly2083=) c.5628A>C (p.Gly1876=) c.6348A>C (p.Gly2116=) c.6846A>C (p.Gly2282=) c.4443A>C (p.Gly1481=) | |
| 2 | g.237350178C>A | CA351209230 | COL6A3 | c.6230G>T (p.Gly2077Val) c.6848G>T (p.Gly2283Val) c.5027G>T (p.Gly1676Val) n.1102G>T c.6248G>T (p.Gly2083Val) c.5627G>T (p.Gly1876Val) c.6347G>T (p.Gly2116Val) c.6845G>T (p.Gly2282Val) c.4442G>T (p.Gly1481Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.237350178C= | CA1337613358 | COL6A3 | c.6230G= (p.Gly2077=) c.6848G= (p.Gly2283=) c.5027G= (p.Gly1676=) n.1102G= c.6248G= (p.Gly2083=) c.5627G= (p.Gly1876=) c.6347G= (p.Gly2116=) c.6845G= (p.Gly2282=) c.4442G= (p.Gly1481=) | |
| 2 | g.237350178C>G | CA351209235 | COL6A3 | c.6230G>C (p.Gly2077Ala) c.6848G>C (p.Gly2283Ala) c.5027G>C (p.Gly1676Ala) n.1102G>C c.6248G>C (p.Gly2083Ala) c.5627G>C (p.Gly1876Ala) c.6347G>C (p.Gly2116Ala) c.6845G>C (p.Gly2282Ala) c.4442G>C (p.Gly1481Ala) | |
| 2 | g.237350178C>T | CA351209237 | COL6A3 | c.6230G>A (p.Gly2077Glu) c.6848G>A (p.Gly2283Glu) c.5027G>A (p.Gly1676Glu) n.1102G>A c.6248G>A (p.Gly2083Glu) c.5627G>A (p.Gly1876Glu) c.6347G>A (p.Gly2116Glu) c.6845G>A (p.Gly2282Glu) c.4442G>A (p.Gly1481Glu) | |
| 2 | g.237350179C>A | CA351209244 | COL6A3 | c.6229G>T (p.Gly2077Ter) c.6847G>T (p.Gly2283Ter) c.5026G>T (p.Gly1676Ter) n.1101G>T c.6247G>T (p.Gly2083Ter) c.5626G>T (p.Gly1876Ter) c.6346G>T (p.Gly2116Ter) c.6844G>T (p.Gly2282Ter) c.4441G>T (p.Gly1481Ter) | |
| 2 | g.237350179C>G | CA351209255 | COL6A3 | c.6229G>C (p.Gly2077Arg) c.6847G>C (p.Gly2283Arg) c.5026G>C (p.Gly1676Arg) n.1101G>C c.6247G>C (p.Gly2083Arg) c.5626G>C (p.Gly1876Arg) c.6346G>C (p.Gly2116Arg) c.6844G>C (p.Gly2282Arg) c.4441G>C (p.Gly1481Arg) | |
| 2 | g.237350179C>T | CA351209251 | COL6A3 | c.6229G>A (p.Gly2077Arg) c.6847G>A (p.Gly2283Arg) c.5026G>A (p.Gly1676Arg) n.1101G>A c.6247G>A (p.Gly2083Arg) c.5626G>A (p.Gly1876Arg) c.6346G>A (p.Gly2116Arg) c.6844G>A (p.Gly2282Arg) c.4441G>A (p.Gly1481Arg) | gnomAD v4 |
| 2 | g.237350180T>A | CA431676550 | COL6A3 | c.6228A>T (p.Gly2076=) c.6846A>T (p.Gly2282=) c.5025A>T (p.Gly1675=) n.1100A>T c.6246A>T (p.Gly2082=) c.5625A>T (p.Gly1875=) c.6345A>T (p.Gly2115=) c.6843A>T (p.Gly2281=) c.4440A>T (p.Gly1480=) | |
| 2 | g.237350180T>C | CA431676551 | COL6A3 | c.6228A>G (p.Gly2076=) c.6846A>G (p.Gly2282=) c.5025A>G (p.Gly1675=) n.1100A>G c.6246A>G (p.Gly2082=) c.5625A>G (p.Gly1875=) c.6345A>G (p.Gly2115=) c.6843A>G (p.Gly2281=) c.4440A>G (p.Gly1480=) | |
| 2 | g.237350180T>G | CA431676552 | COL6A3 | c.6228A>C (p.Gly2076=) c.6846A>C (p.Gly2282=) c.5025A>C (p.Gly1675=) n.1100A>C c.6246A>C (p.Gly2082=) c.5625A>C (p.Gly1875=) c.6345A>C (p.Gly2115=) c.6843A>C (p.Gly2281=) c.4440A>C (p.Gly1480=) | |
| 2 | g.237350181C>A | CA351209256 | COL6A3 | c.6227G>T (p.Gly2076Val) c.6845G>T (p.Gly2282Val) c.5024G>T (p.Gly1675Val) n.1099G>T c.6245G>T (p.Gly2082Val) c.5624G>T (p.Gly1875Val) c.6344G>T (p.Gly2115Val) c.6842G>T (p.Gly2281Val) c.4439G>T (p.Gly1480Val) | |
| 2 | g.237350181C>G | CA351209257 | COL6A3 | c.6227G>C (p.Gly2076Ala) c.6845G>C (p.Gly2282Ala) c.5024G>C (p.Gly1675Ala) n.1099G>C c.6245G>C (p.Gly2082Ala) c.5624G>C (p.Gly1875Ala) c.6344G>C (p.Gly2115Ala) c.6842G>C (p.Gly2281Ala) c.4439G>C (p.Gly1480Ala) | |
| 2 | g.237350181C>T | CA351209258 | COL6A3 | c.6227G>A (p.Gly2076Glu) c.6845G>A (p.Gly2282Glu) c.5024G>A (p.Gly1675Glu) n.1099G>A c.6245G>A (p.Gly2082Glu) c.5624G>A (p.Gly1875Glu) c.6344G>A (p.Gly2115Glu) c.6842G>A (p.Gly2281Glu) c.4439G>A (p.Gly1480Glu) | COSMIC |
| 2 | g.237350182C>A | CA351209260 | COL6A3 | c.6226G>T (p.Gly2076Ter) c.6844G>T (p.Gly2282Ter) c.5023G>T (p.Gly1675Ter) n.1098G>T c.6244G>T (p.Gly2082Ter) c.5623G>T (p.Gly1875Ter) c.6343G>T (p.Gly2115Ter) c.6841G>T (p.Gly2281Ter) c.4438G>T (p.Gly1480Ter) | |
| 2 | g.237350182C>G | CA351209263 | COL6A3 | c.6226G>C (p.Gly2076Arg) c.6844G>C (p.Gly2282Arg) c.5023G>C (p.Gly1675Arg) n.1098G>C c.6244G>C (p.Gly2082Arg) c.5623G>C (p.Gly1875Arg) c.6343G>C (p.Gly2115Arg) c.6841G>C (p.Gly2281Arg) c.4438G>C (p.Gly1480Arg) | |
| 2 | g.237350182C>T | CA351209285 | COL6A3 | c.6226G>A (p.Gly2076Arg) c.6844G>A (p.Gly2282Arg) c.5023G>A (p.Gly1675Arg) n.1098G>A c.6244G>A (p.Gly2082Arg) c.5623G>A (p.Gly1875Arg) c.6343G>A (p.Gly2115Arg) c.6841G>A (p.Gly2281Arg) c.4438G>A (p.Gly1480Arg) | gnomAD v4 |
| 2 | g.237350183T>A | CA351209289 | COL6A3 | c.6225A>T (p.Lys2075Asn) c.6843A>T (p.Lys2281Asn) c.5022A>T (p.Lys1674Asn) n.1097A>T c.6243A>T (p.Lys2081Asn) c.5622A>T (p.Lys1874Asn) c.6342A>T (p.Lys2114Asn) c.6840A>T (p.Lys2280Asn) c.4437A>T (p.Lys1479Asn) | |
| 2 | g.237350183T>C | CA431676553 | COL6A3 | c.6225A>G (p.Lys2075=) c.6843A>G (p.Lys2281=) c.5022A>G (p.Lys1674=) n.1097A>G c.6243A>G (p.Lys2081=) c.5622A>G (p.Lys1874=) c.6342A>G (p.Lys2114=) c.6840A>G (p.Lys2280=) c.4437A>G (p.Lys1479=) | |
| 2 | g.237350183T>G | CA351209297 | COL6A3 | c.6225A>C (p.Lys2075Asn) c.6843A>C (p.Lys2281Asn) c.5022A>C (p.Lys1674Asn) n.1097A>C c.6243A>C (p.Lys2081Asn) c.5622A>C (p.Lys1874Asn) c.6342A>C (p.Lys2114Asn) c.6840A>C (p.Lys2280Asn) c.4437A>C (p.Lys1479Asn) | |
| 2 | g.237350186del | CA2663794081 | COL6A3 | c.6225del (p.Gly2076GlufsTer?) c.6843del (p.Gly2282GlufsTer?) c.5022del (p.Gly1675GlufsTer?) n.1097del c.6243del (p.Gly2082GlufsTer?) c.5622del (p.Gly1875GlufsTer?) c.6342del (p.Gly2115GlufsTer?) c.6840del (p.Gly2281GlufsTer?) c.4437del (p.Gly1480GlufsTer?) | gnomAD v4 |
| 2 | g.237350184T>A | CA351209301 | COL6A3 | c.6224A>T (p.Lys2075Ile) c.6842A>T (p.Lys2281Ile) c.5021A>T (p.Lys1674Ile) n.1096A>T c.6242A>T (p.Lys2081Ile) c.5621A>T (p.Lys1874Ile) c.6341A>T (p.Lys2114Ile) c.6839A>T (p.Lys2280Ile) c.4436A>T (p.Lys1479Ile) | |
| 2 | g.237350184T>C | CA351209302 | COL6A3 | c.6224A>G (p.Lys2075Arg) c.6842A>G (p.Lys2281Arg) c.5021A>G (p.Lys1674Arg) n.1096A>G c.6242A>G (p.Lys2081Arg) c.5621A>G (p.Lys1874Arg) c.6341A>G (p.Lys2114Arg) c.6839A>G (p.Lys2280Arg) c.4436A>G (p.Lys1479Arg) | gnomAD v4 |
| 2 | g.237350184T>G | CA351209303 | COL6A3 | c.6224A>C (p.Lys2075Thr) c.6842A>C (p.Lys2281Thr) c.5021A>C (p.Lys1674Thr) n.1096A>C c.6242A>C (p.Lys2081Thr) c.5621A>C (p.Lys1874Thr) c.6341A>C (p.Lys2114Thr) c.6839A>C (p.Lys2280Thr) c.4436A>C (p.Lys1479Thr) | |
| 2 | g.237350185T>A | CA351209308 | COL6A3 | c.6223A>T (p.Lys2075Ter) c.6841A>T (p.Lys2281Ter) c.5020A>T (p.Lys1674Ter) n.1095A>T c.6241A>T (p.Lys2081Ter) c.5620A>T (p.Lys1874Ter) c.6340A>T (p.Lys2114Ter) c.6838A>T (p.Lys2280Ter) c.4435A>T (p.Lys1479Ter) | |
| 2 | g.237350185T>C | CA351209324 | COL6A3 | c.6223A>G (p.Lys2075Glu) c.6841A>G (p.Lys2281Glu) c.5020A>G (p.Lys1674Glu) n.1095A>G c.6241A>G (p.Lys2081Glu) c.5620A>G (p.Lys1874Glu) c.6340A>G (p.Lys2114Glu) c.6838A>G (p.Lys2280Glu) c.4435A>G (p.Lys1479Glu) | |
| 2 | g.237350185T>G | CA351209305 | COL6A3 | c.6223A>C (p.Lys2075Gln) c.6841A>C (p.Lys2281Gln) c.5020A>C (p.Lys1674Gln) n.1095A>C c.6241A>C (p.Lys2081Gln) c.5620A>C (p.Lys1874Gln) c.6340A>C (p.Lys2114Gln) c.6838A>C (p.Lys2280Gln) c.4435A>C (p.Lys1479Gln) | |
| 2 | g.237350185_237350187del | CA2663794089 | COL6A3 | c.6221_6223del (p.Pro2074_Lys2075delinsGln) c.6839_6841del (p.Pro2280_Lys2281delinsGln) c.5018_5020del (p.Pro1673_Lys1674delinsGln) n.1093_1095del c.6239_6241del (p.Pro2080_Lys2081delinsGln) c.5618_5620del (p.Pro1873_Lys1874delinsGln) c.6338_6340del (p.Pro2113_Lys2114delinsGln) c.6836_6838del (p.Pro2279_Lys2280delinsGln) c.4433_4435del (p.Pro1478_Lys1479delinsGln) | gnomAD v4 |
| 2 | g.237350186T>A | CA431676554 | COL6A3 | c.6222A>T (p.Pro2074=) c.6840A>T (p.Pro2280=) c.5019A>T (p.Pro1673=) n.1094A>T c.6240A>T (p.Pro2080=) c.5619A>T (p.Pro1873=) c.6339A>T (p.Pro2113=) c.6837A>T (p.Pro2279=) c.4434A>T (p.Pro1478=) | |
| 2 | g.237350186T>C | CA2188062 | COL6A3 | c.6222A>G (p.Pro2074=) c.6840A>G (p.Pro2280=) c.5019A>G (p.Pro1673=) n.1094A>G c.6240A>G (p.Pro2080=) c.5619A>G (p.Pro1873=) c.6339A>G (p.Pro2113=) c.6837A>G (p.Pro2279=) c.4434A>G (p.Pro1478=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237350186T>G | CA431676555 | COL6A3 | c.6222A>C (p.Pro2074=) c.6840A>C (p.Pro2280=) c.5019A>C (p.Pro1673=) n.1094A>C c.6240A>C (p.Pro2080=) c.5619A>C (p.Pro1873=) c.6339A>C (p.Pro2113=) c.6837A>C (p.Pro2279=) c.4434A>C (p.Pro1478=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.237350186T= | CA1337613359 | COL6A3 | c.6222A= (p.Pro2074=) c.6840A= (p.Pro2280=) c.5019A= (p.Pro1673=) n.1094A= c.6240A= (p.Pro2080=) c.5619A= (p.Pro1873=) c.6339A= (p.Pro2113=) c.6837A= (p.Pro2279=) c.4434A= (p.Pro1478=) | |
| 2 | g.237350187G>A | CA2188063 | COL6A3 | c.6221C>T (p.Pro2074Leu) c.6839C>T (p.Pro2280Leu) c.5018C>T (p.Pro1673Leu) n.1093C>T c.6239C>T (p.Pro2080Leu) c.5618C>T (p.Pro1873Leu) c.6338C>T (p.Pro2113Leu) c.6836C>T (p.Pro2279Leu) c.4433C>T (p.Pro1478Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237350187G>C | CA351209337 | COL6A3 | c.6221C>G (p.Pro2074Arg) c.6839C>G (p.Pro2280Arg) c.5018C>G (p.Pro1673Arg) n.1093C>G c.6239C>G (p.Pro2080Arg) c.5618C>G (p.Pro1873Arg) c.6338C>G (p.Pro2113Arg) c.6836C>G (p.Pro2279Arg) c.4433C>G (p.Pro1478Arg) | |
| 2 | g.237350187G= | CA1337613360 | COL6A3 | c.6221C= (p.Pro2074=) c.6839C= (p.Pro2280=) c.5018C= (p.Pro1673=) n.1093C= c.6239C= (p.Pro2080=) c.5618C= (p.Pro1873=) c.6338C= (p.Pro2113=) c.6836C= (p.Pro2279=) c.4433C= (p.Pro1478=) | |
| 2 | g.237350187G>T | CA351209335 | COL6A3 | c.6221C>A (p.Pro2074Gln) c.6839C>A (p.Pro2280Gln) c.5018C>A (p.Pro1673Gln) n.1093C>A c.6239C>A (p.Pro2080Gln) c.5618C>A (p.Pro1873Gln) c.6338C>A (p.Pro2113Gln) c.6836C>A (p.Pro2279Gln) c.4433C>A (p.Pro1478Gln) | |
| 2 | g.237350188G>A | CA351209340 | COL6A3 | c.6220C>T (p.Pro2074Ser) c.6838C>T (p.Pro2280Ser) c.5017C>T (p.Pro1673Ser) n.1092C>T c.6238C>T (p.Pro2080Ser) c.5617C>T (p.Pro1873Ser) c.6337C>T (p.Pro2113Ser) c.6835C>T (p.Pro2279Ser) c.4432C>T (p.Pro1478Ser) | gnomAD v4 |
| 2 | g.237350188G>C | CA351209354 | COL6A3 | c.6220C>G (p.Pro2074Ala) c.6838C>G (p.Pro2280Ala) c.5017C>G (p.Pro1673Ala) n.1092C>G c.6238C>G (p.Pro2080Ala) c.5617C>G (p.Pro1873Ala) c.6337C>G (p.Pro2113Ala) c.6835C>G (p.Pro2279Ala) c.4432C>G (p.Pro1478Ala) | gnomAD v4 |
| 2 | g.237350188G= | CA1337613361 | COL6A3 | c.6220C= (p.Pro2074=) c.6838C= (p.Pro2280=) c.5017C= (p.Pro1673=) n.1092C= c.6238C= (p.Pro2080=) c.5617C= (p.Pro1873=) c.6337C= (p.Pro2113=) c.6835C= (p.Pro2279=) c.4432C= (p.Pro1478=) | |
| 2 | g.237350188G>T | CA2188064 | COL6A3 | c.6220C>A (p.Pro2074Thr) c.6838C>A (p.Pro2280Thr) c.5017C>A (p.Pro1673Thr) n.1092C>A c.6238C>A (p.Pro2080Thr) c.5617C>A (p.Pro1873Thr) c.6337C>A (p.Pro2113Thr) c.6835C>A (p.Pro2279Thr) c.4432C>A (p.Pro1478Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237350189T>A | CA431676559 | COL6A3 | c.6219A>T (p.Gly2073=) c.6837A>T (p.Gly2279=) c.5016A>T (p.Gly1672=) n.1091A>T c.6237A>T (p.Gly2079=) c.5616A>T (p.Gly1872=) c.6336A>T (p.Gly2112=) c.6834A>T (p.Gly2278=) c.4431A>T (p.Gly1477=) | |
| 2 | g.237350189T>C | CA2188065 | COL6A3 | c.6219A>G (p.Gly2073=) c.6837A>G (p.Gly2279=) c.5016A>G (p.Gly1672=) n.1091A>G c.6237A>G (p.Gly2079=) c.5616A>G (p.Gly1872=) c.6336A>G (p.Gly2112=) c.6834A>G (p.Gly2278=) c.4431A>G (p.Gly1477=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.237350189T>G | CA431676558 | COL6A3 | c.6219A>C (p.Gly2073=) c.6837A>C (p.Gly2279=) c.5016A>C (p.Gly1672=) n.1091A>C c.6237A>C (p.Gly2079=) c.5616A>C (p.Gly1872=) c.6336A>C (p.Gly2112=) c.6834A>C (p.Gly2278=) c.4431A>C (p.Gly1477=) | |
| 2 | g.237350189T= | CA1337613362 | COL6A3 | c.6219A= (p.Gly2073=) c.6837A= (p.Gly2279=) c.5016A= (p.Gly1672=) n.1091A= c.6237A= (p.Gly2079=) c.5616A= (p.Gly1872=) c.6336A= (p.Gly2112=) c.6834A= (p.Gly2278=) c.4431A= (p.Gly1477=) | |
| 2 | g.237350190C>A | CA351209364 | COL6A3 | c.6218G>T (p.Gly2073Val) c.6836G>T (p.Gly2279Val) c.5015G>T (p.Gly1672Val) n.1090G>T c.6236G>T (p.Gly2079Val) c.5615G>T (p.Gly1872Val) c.6335G>T (p.Gly2112Val) c.6833G>T (p.Gly2278Val) c.4430G>T (p.Gly1477Val) | gnomAD v4 |
| 2 | g.237350190C= | CA1337613363 | COL6A3 | c.6218G= (p.Gly2073=) c.6836G= (p.Gly2279=) c.5015G= (p.Gly1672=) n.1090G= c.6236G= (p.Gly2079=) c.5615G= (p.Gly1872=) c.6335G= (p.Gly2112=) c.6833G= (p.Gly2278=) c.4430G= (p.Gly1477=) | |
| 2 | g.237350190C>G | CA351209360 | COL6A3 | c.6218G>C (p.Gly2073Ala) c.6836G>C (p.Gly2279Ala) c.5015G>C (p.Gly1672Ala) n.1090G>C c.6236G>C (p.Gly2079Ala) c.5615G>C (p.Gly1872Ala) c.6335G>C (p.Gly2112Ala) c.6833G>C (p.Gly2278Ala) c.4430G>C (p.Gly1477Ala) | |
| 2 | g.237350190C>T | CA2188066 | COL6A3 | c.6218G>A (p.Gly2073Glu) c.6836G>A (p.Gly2279Glu) c.5015G>A (p.Gly1672Glu) n.1090G>A c.6236G>A (p.Gly2079Glu) c.5615G>A (p.Gly1872Glu) c.6335G>A (p.Gly2112Glu) c.6833G>A (p.Gly2278Glu) c.4430G>A (p.Gly1477Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |