| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.237350166_237350167delinsCG | CA1337613350 | COL6A3 | c.6241_6242delinsCG (p.Arg2081=) c.6859_6860delinsCG (p.Arg2287=) c.5038_5039delinsCG (p.Arg1680=) n.1113_1114delinsCG c.6259_6260delinsCG (p.Arg2087=) c.5638_5639delinsCG (p.Arg1880=) c.6358_6359delinsCG (p.Arg2120=) c.6856_6857delinsCG (p.Arg2286=) c.4453_4454delinsCG (p.Arg1485=) | |
| 2 | g.237350167G>A | CA2188060 | COL6A3 | c.6241C>T (p.Arg2081Trp) c.6859C>T (p.Arg2287Trp) c.5038C>T (p.Arg1680Trp) n.1113C>T c.6259C>T (p.Arg2087Trp) c.5638C>T (p.Arg1880Trp) c.6358C>T (p.Arg2120Trp) c.6856C>T (p.Arg2286Trp) c.4453C>T (p.Arg1485Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237350167G>C | CA351209141 | COL6A3 | c.6241C>G (p.Arg2081Gly) c.6859C>G (p.Arg2287Gly) c.5038C>G (p.Arg1680Gly) n.1113C>G c.6259C>G (p.Arg2087Gly) c.5638C>G (p.Arg1880Gly) c.6358C>G (p.Arg2120Gly) c.6856C>G (p.Arg2286Gly) c.4453C>G (p.Arg1485Gly) | gnomAD v4 |
| 2 | g.237350167G= | CA1337613351 | COL6A3 | c.6241C= (p.Arg2081=) c.6859C= (p.Arg2287=) c.5038C= (p.Arg1680=) n.1113C= c.6259C= (p.Arg2087=) c.5638C= (p.Arg1880=) c.6358C= (p.Arg2120=) c.6856C= (p.Arg2286=) c.4453C= (p.Arg1485=) | |
| 2 | g.237350167G>T | CA431676540 | COL6A3 | c.6241C>A (p.Arg2081=) c.6859C>A (p.Arg2287=) c.5038C>A (p.Arg1680=) n.1113C>A c.6259C>A (p.Arg2087=) c.5638C>A (p.Arg1880=) c.6358C>A (p.Arg2120=) c.6856C>A (p.Arg2286=) c.4453C>A (p.Arg1485=) | |
| 2 | g.237350168del | CA052246 | COL6A3 | c.6241del (p.Arg2081GlyfsTer?) c.6859del (p.Arg2287GlyfsTer?) c.5038del (p.Arg1680GlyfsTer?) n.1113del c.6259del (p.Arg2087GlyfsTer?) c.5638del (p.Arg1880GlyfsTer?) c.6358del (p.Arg2120GlyfsTer?) c.6856del (p.Arg2286GlyfsTer?) c.4453del (p.Arg1485GlyfsTer?) | ClinVar dbSNP |
| 2 | g.237350168G>A | CA431676541 | COL6A3 | c.6240C>T (p.Asn2080=) c.6858C>T (p.Asn2286=) c.5037C>T (p.Asn1679=) n.1112C>T c.6258C>T (p.Asn2086=) c.5637C>T (p.Asn1879=) c.6357C>T (p.Asn2119=) c.6855C>T (p.Asn2285=) c.4452C>T (p.Asn1484=) | gnomAD v4 |
| 2 | g.237350168G>C | CA351209145 | COL6A3 | c.6240C>G (p.Asn2080Lys) c.6858C>G (p.Asn2286Lys) c.5037C>G (p.Asn1679Lys) n.1112C>G c.6258C>G (p.Asn2086Lys) c.5637C>G (p.Asn1879Lys) c.6357C>G (p.Asn2119Lys) c.6855C>G (p.Asn2285Lys) c.4452C>G (p.Asn1484Lys) | |
| 2 | g.237350168G>T | CA351209146 | COL6A3 | c.6240C>A (p.Asn2080Lys) c.6858C>A (p.Asn2286Lys) c.5037C>A (p.Asn1679Lys) n.1112C>A c.6258C>A (p.Asn2086Lys) c.5637C>A (p.Asn1879Lys) c.6357C>A (p.Asn2119Lys) c.6855C>A (p.Asn2285Lys) c.4452C>A (p.Asn1484Lys) | |
| 2 | g.237350169T>A | CA351209159 | COL6A3 | c.6239A>T (p.Asn2080Ile) c.6857A>T (p.Asn2286Ile) c.5036A>T (p.Asn1679Ile) n.1111A>T c.6257A>T (p.Asn2086Ile) c.5636A>T (p.Asn1879Ile) c.6356A>T (p.Asn2119Ile) c.6854A>T (p.Asn2285Ile) c.4451A>T (p.Asn1484Ile) | |
| 2 | g.237350169T>C | CA351209167 | COL6A3 | c.6239A>G (p.Asn2080Ser) c.6857A>G (p.Asn2286Ser) c.5036A>G (p.Asn1679Ser) n.1111A>G c.6257A>G (p.Asn2086Ser) c.5636A>G (p.Asn1879Ser) c.6356A>G (p.Asn2119Ser) c.6854A>G (p.Asn2285Ser) c.4451A>G (p.Asn1484Ser) | dbSNP gnomAD v4 |
| 2 | g.237350169T>G | CA351209170 | COL6A3 | c.6239A>C (p.Asn2080Thr) c.6857A>C (p.Asn2286Thr) c.5036A>C (p.Asn1679Thr) n.1111A>C c.6257A>C (p.Asn2086Thr) c.5636A>C (p.Asn1879Thr) c.6356A>C (p.Asn2119Thr) c.6854A>C (p.Asn2285Thr) c.4451A>C (p.Asn1484Thr) | dbSNP gnomAD v2 |
| 2 | g.237350169T= | CA1337613352 | COL6A3 | c.6239A= (p.Asn2080=) c.6857A= (p.Asn2286=) c.5036A= (p.Asn1679=) n.1111A= c.6257A= (p.Asn2086=) c.5636A= (p.Asn1879=) c.6356A= (p.Asn2119=) c.6854A= (p.Asn2285=) c.4451A= (p.Asn1484=) | |
| 2 | g.237350170T>A | CA351209174 | COL6A3 | c.6238A>T (p.Asn2080Tyr) c.6856A>T (p.Asn2286Tyr) c.5035A>T (p.Asn1679Tyr) n.1110A>T c.6256A>T (p.Asn2086Tyr) c.5635A>T (p.Asn1879Tyr) c.6355A>T (p.Asn2119Tyr) c.6853A>T (p.Asn2285Tyr) c.4450A>T (p.Asn1484Tyr) | |
| 2 | g.237350170T>C | CA351209176 | COL6A3 | c.6238A>G (p.Asn2080Asp) c.6856A>G (p.Asn2286Asp) c.5035A>G (p.Asn1679Asp) n.1110A>G c.6256A>G (p.Asn2086Asp) c.5635A>G (p.Asn1879Asp) c.6355A>G (p.Asn2119Asp) c.6853A>G (p.Asn2285Asp) c.4450A>G (p.Asn1484Asp) | |
| 2 | g.237350170T>G | CA351209178 | COL6A3 | c.6238A>C (p.Asn2080His) c.6856A>C (p.Asn2286His) c.5035A>C (p.Asn1679His) n.1110A>C c.6256A>C (p.Asn2086His) c.5635A>C (p.Asn1879His) c.6355A>C (p.Asn2119His) c.6853A>C (p.Asn2285His) c.4450A>C (p.Asn1484His) | |
| 2 | g.237350171C>A | CA431676542 | COL6A3 | c.6237G>T (p.Gly2079=) c.6855G>T (p.Gly2285=) c.5034G>T (p.Gly1678=) n.1109G>T c.6255G>T (p.Gly2085=) c.5634G>T (p.Gly1878=) c.6354G>T (p.Gly2118=) c.6852G>T (p.Gly2284=) c.4449G>T (p.Gly1483=) | |
| 2 | g.237350171C= | CA1337613353 | COL6A3 | c.6237G= (p.Gly2079=) c.6855G= (p.Gly2285=) c.5034G= (p.Gly1678=) n.1109G= c.6255G= (p.Gly2085=) c.5634G= (p.Gly1878=) c.6354G= (p.Gly2118=) c.6852G= (p.Gly2284=) c.4449G= (p.Gly1483=) | |
| 2 | g.237350171C>G | CA148000 | COL6A3 | c.6237G>C (p.Gly2079=) c.6855G>C (p.Gly2285=) c.5034G>C (p.Gly1678=) n.1109G>C c.6255G>C (p.Gly2085=) c.5634G>C (p.Gly1878=) c.6354G>C (p.Gly2118=) c.6852G>C (p.Gly2284=) c.4449G>C (p.Gly1483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237350171C>T | CA431676543 | COL6A3 | c.6237G>A (p.Gly2079=) c.6855G>A (p.Gly2285=) c.5034G>A (p.Gly1678=) n.1109G>A c.6255G>A (p.Gly2085=) c.5634G>A (p.Gly1878=) c.6354G>A (p.Gly2118=) c.6852G>A (p.Gly2284=) c.4449G>A (p.Gly1483=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237350172C>A | CA351209185 | COL6A3 | c.6236G>T (p.Gly2079Val) c.6854G>T (p.Gly2285Val) c.5033G>T (p.Gly1678Val) n.1108G>T c.6254G>T (p.Gly2085Val) c.5633G>T (p.Gly1878Val) c.6353G>T (p.Gly2118Val) c.6851G>T (p.Gly2284Val) c.4448G>T (p.Gly1483Val) | |
| 2 | g.237350172C= | CA1337613354 | COL6A3 | c.6236G= (p.Gly2079=) c.6854G= (p.Gly2285=) c.5033G= (p.Gly1678=) n.1108G= c.6254G= (p.Gly2085=) c.5633G= (p.Gly1878=) c.6353G= (p.Gly2118=) c.6851G= (p.Gly2284=) c.4448G= (p.Gly1483=) | |
| 2 | g.237350172C>G | CA351209184 | COL6A3 | c.6236G>C (p.Gly2079Ala) c.6854G>C (p.Gly2285Ala) c.5033G>C (p.Gly1678Ala) n.1108G>C c.6254G>C (p.Gly2085Ala) c.5633G>C (p.Gly1878Ala) c.6353G>C (p.Gly2118Ala) c.6851G>C (p.Gly2284Ala) c.4448G>C (p.Gly1483Ala) | gnomAD v4 |
| 2 | g.237350172C>T | CA67845852 | COL6A3 | c.6236G>A (p.Gly2079Glu) c.6854G>A (p.Gly2285Glu) c.5033G>A (p.Gly1678Glu) n.1108G>A c.6254G>A (p.Gly2085Glu) c.5633G>A (p.Gly1878Glu) c.6353G>A (p.Gly2118Glu) c.6851G>A (p.Gly2284Glu) c.4448G>A (p.Gly1483Glu) | dbSNP gnomAD v4 |
| 2 | g.237350173C>A | CA351209187 | COL6A3 | c.6235G>T (p.Gly2079Trp) c.6853G>T (p.Gly2285Trp) c.5032G>T (p.Gly1678Trp) n.1107G>T c.6253G>T (p.Gly2085Trp) c.5632G>T (p.Gly1878Trp) c.6352G>T (p.Gly2118Trp) c.6850G>T (p.Gly2284Trp) c.4447G>T (p.Gly1483Trp) | |
| 2 | g.237350173C= | CA1337613355 | COL6A3 | c.6235G= (p.Gly2079=) c.6853G= (p.Gly2285=) c.5032G= (p.Gly1678=) n.1107G= c.6253G= (p.Gly2085=) c.5632G= (p.Gly1878=) c.6352G= (p.Gly2118=) c.6850G= (p.Gly2284=) c.4447G= (p.Gly1483=) | |
| 2 | g.237350173C>G | CA351209192 | COL6A3 | c.6235G>C (p.Gly2079Arg) c.6853G>C (p.Gly2285Arg) c.5032G>C (p.Gly1678Arg) n.1107G>C c.6253G>C (p.Gly2085Arg) c.5632G>C (p.Gly1878Arg) c.6352G>C (p.Gly2118Arg) c.6850G>C (p.Gly2284Arg) c.4447G>C (p.Gly1483Arg) | |
| 2 | g.237350173C>T | CA351209193 | COL6A3 | c.6235G>A (p.Gly2079Arg) c.6853G>A (p.Gly2285Arg) c.5032G>A (p.Gly1678Arg) n.1107G>A c.6253G>A (p.Gly2085Arg) c.5632G>A (p.Gly1878Arg) c.6352G>A (p.Gly2118Arg) c.6850G>A (p.Gly2284Arg) c.4447G>A (p.Gly1483Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.237350174G>A | CA2188061 | COL6A3 | c.6234C>T (p.Ile2078=) c.6852C>T (p.Ile2284=) c.5031C>T (p.Ile1677=) n.1106C>T c.6252C>T (p.Ile2084=) c.5631C>T (p.Ile1877=) c.6351C>T (p.Ile2117=) c.6849C>T (p.Ile2283=) c.4446C>T (p.Ile1482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.237350174G>C | CA351209195 | COL6A3 | c.6234C>G (p.Ile2078Met) c.6852C>G (p.Ile2284Met) c.5031C>G (p.Ile1677Met) n.1106C>G c.6252C>G (p.Ile2084Met) c.5631C>G (p.Ile1877Met) c.6351C>G (p.Ile2117Met) c.6849C>G (p.Ile2283Met) c.4446C>G (p.Ile1482Met) | |
| 2 | g.237350174G= | CA1337613356 | COL6A3 | c.6234C= (p.Ile2078=) c.6852C= (p.Ile2284=) c.5031C= (p.Ile1677=) n.1106C= c.6252C= (p.Ile2084=) c.5631C= (p.Ile1877=) c.6351C= (p.Ile2117=) c.6849C= (p.Ile2283=) c.4446C= (p.Ile1482=) | |
| 2 | g.237350174G>T | CA431676546 | COL6A3 | c.6234C>A (p.Ile2078=) c.6852C>A (p.Ile2284=) c.5031C>A (p.Ile1677=) n.1106C>A c.6252C>A (p.Ile2084=) c.5631C>A (p.Ile1877=) c.6351C>A (p.Ile2117=) c.6849C>A (p.Ile2283=) c.4446C>A (p.Ile1482=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.237350175A>C | CA351209213 | COL6A3 | c.6233T>G (p.Ile2078Ser) c.6851T>G (p.Ile2284Ser) c.5030T>G (p.Ile1677Ser) n.1105T>G c.6251T>G (p.Ile2084Ser) c.5630T>G (p.Ile1877Ser) c.6350T>G (p.Ile2117Ser) c.6848T>G (p.Ile2283Ser) c.4445T>G (p.Ile1482Ser) | |
| 2 | g.237350175A>G | CA351209212 | COL6A3 | c.6233T>C (p.Ile2078Thr) c.6851T>C (p.Ile2284Thr) c.5030T>C (p.Ile1677Thr) n.1105T>C c.6251T>C (p.Ile2084Thr) c.5630T>C (p.Ile1877Thr) c.6350T>C (p.Ile2117Thr) c.6848T>C (p.Ile2283Thr) c.4445T>C (p.Ile1482Thr) | |
| 2 | g.237350175A>T | CA351209199 | COL6A3 | c.6233T>A (p.Ile2078Asn) c.6851T>A (p.Ile2284Asn) c.5030T>A (p.Ile1677Asn) n.1105T>A c.6251T>A (p.Ile2084Asn) c.5630T>A (p.Ile1877Asn) c.6350T>A (p.Ile2117Asn) c.6848T>A (p.Ile2283Asn) c.4445T>A (p.Ile1482Asn) | |
| 2 | g.237350176T>A | CA351209214 | COL6A3 | c.6232A>T (p.Ile2078Phe) c.6850A>T (p.Ile2284Phe) c.5029A>T (p.Ile1677Phe) n.1104A>T c.6250A>T (p.Ile2084Phe) c.5629A>T (p.Ile1877Phe) c.6349A>T (p.Ile2117Phe) c.6847A>T (p.Ile2283Phe) c.4444A>T (p.Ile1482Phe) | |
| 2 | g.237350176T>C | CA351209215 | COL6A3 | c.6232A>G (p.Ile2078Val) c.6850A>G (p.Ile2284Val) c.5029A>G (p.Ile1677Val) n.1104A>G c.6250A>G (p.Ile2084Val) c.5629A>G (p.Ile1877Val) c.6349A>G (p.Ile2117Val) c.6847A>G (p.Ile2283Val) c.4444A>G (p.Ile1482Val) | dbSNP gnomAD v4 |
| 2 | g.237350176T>G | CA351209220 | COL6A3 | c.6232A>C (p.Ile2078Leu) c.6850A>C (p.Ile2284Leu) c.5029A>C (p.Ile1677Leu) n.1104A>C c.6250A>C (p.Ile2084Leu) c.5629A>C (p.Ile1877Leu) c.6349A>C (p.Ile2117Leu) c.6847A>C (p.Ile2283Leu) c.4444A>C (p.Ile1482Leu) | |
| 2 | g.237350176T= | CA1337613357 | COL6A3 | c.6232A= (p.Ile2078=) c.6850A= (p.Ile2284=) c.5029A= (p.Ile1677=) n.1104A= c.6250A= (p.Ile2084=) c.5629A= (p.Ile1877=) c.6349A= (p.Ile2117=) c.6847A= (p.Ile2283=) c.4444A= (p.Ile1482=) | |
| 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=) |