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 |
|---|---|---|---|---|---|
| 18 | g.23905525G>A | CA402051250 | LAMA3 | c.1792G>A (p.Val598Met) c.6619G>A (p.Val2207Met) c.3511G>A (p.Val1171Met) c.6451G>A (p.Val2151Met) c.1397G>A c.1624G>A (p.Val542Met) n.1197G>A c.6646G>A (p.Val2216Met) c.6637G>A (p.Val2213Met) c.6628G>A (p.Val2210Met) c.6514G>A (p.Val2172Met) c.4498G>A (p.Val1500Met) c.2188G>A (p.Val730Met) n.6887G>A | dbSNP gnomAD v4 |
| 18 | g.23905525G>C | CA402051254 | LAMA3 | c.1792G>C (p.Val598Leu) c.6619G>C (p.Val2207Leu) c.3511G>C (p.Val1171Leu) c.6451G>C (p.Val2151Leu) c.1397G>C c.1624G>C (p.Val542Leu) n.1197G>C c.6646G>C (p.Val2216Leu) c.6637G>C (p.Val2213Leu) c.6628G>C (p.Val2210Leu) c.6514G>C (p.Val2172Leu) c.4498G>C (p.Val1500Leu) c.2188G>C (p.Val730Leu) n.6887G>C | |
| 18 | g.23905525G= | CA2290325042 | LAMA3 | c.1792G= (p.Val598=) c.6619G= (p.Val2207=) c.3511G= (p.Val1171=) c.6451G= (p.Val2151=) c.1397G= c.1624G= (p.Val542=) n.1197G= c.6646G= (p.Val2216=) c.6637G= (p.Val2213=) c.6628G= (p.Val2210=) c.6514G= (p.Val2172=) c.4498G= (p.Val1500=) c.2188G= (p.Val730=) n.6887G= | |
| 18 | g.23905525G>T | CA402051252 | LAMA3 | c.1792G>T (p.Val598Leu) c.6619G>T (p.Val2207Leu) c.3511G>T (p.Val1171Leu) c.6451G>T (p.Val2151Leu) c.1397G>T c.1624G>T (p.Val542Leu) n.1197G>T c.6646G>T (p.Val2216Leu) c.6637G>T (p.Val2213Leu) c.6628G>T (p.Val2210Leu) c.6514G>T (p.Val2172Leu) c.4498G>T (p.Val1500Leu) c.2188G>T (p.Val730Leu) n.6887G>T | |
| 18 | g.23905526T>A | CA402051256 | LAMA3 | c.1793T>A (p.Val598Glu) c.6620T>A (p.Val2207Glu) c.3512T>A (p.Val1171Glu) c.6452T>A (p.Val2151Glu) c.1398T>A c.1625T>A (p.Val542Glu) n.1198T>A c.6647T>A (p.Val2216Glu) c.6638T>A (p.Val2213Glu) c.6629T>A (p.Val2210Glu) c.6515T>A (p.Val2172Glu) c.4499T>A (p.Val1500Glu) c.2189T>A (p.Val730Glu) n.6888T>A | |
| 18 | g.23905526T>C | CA402051257 | LAMA3 | c.1793T>C (p.Val598Ala) c.6620T>C (p.Val2207Ala) c.3512T>C (p.Val1171Ala) c.6452T>C (p.Val2151Ala) c.1398T>C c.1625T>C (p.Val542Ala) n.1198T>C c.6647T>C (p.Val2216Ala) c.6638T>C (p.Val2213Ala) c.6629T>C (p.Val2210Ala) c.6515T>C (p.Val2172Ala) c.4499T>C (p.Val1500Ala) c.2189T>C (p.Val730Ala) n.6888T>C | gnomAD v4 |
| 18 | g.23905526T>G | CA402051259 | LAMA3 | c.1793T>G (p.Val598Gly) c.6620T>G (p.Val2207Gly) c.3512T>G (p.Val1171Gly) c.6452T>G (p.Val2151Gly) c.1398T>G c.1625T>G (p.Val542Gly) n.1198T>G c.6647T>G (p.Val2216Gly) c.6638T>G (p.Val2213Gly) c.6629T>G (p.Val2210Gly) c.6515T>G (p.Val2172Gly) c.4499T>G (p.Val1500Gly) c.2189T>G (p.Val730Gly) n.6888T>G | |
| 18 | g.23905527G>A | CA503336542 | LAMA3 | c.1794G>A (p.Val598=) c.6621G>A (p.Val2207=) c.3513G>A (p.Val1171=) c.6453G>A (p.Val2151=) c.1399G>A c.1626G>A (p.Val542=) n.1199G>A c.6648G>A (p.Val2216=) c.6639G>A (p.Val2213=) c.6630G>A (p.Val2210=) c.6516G>A (p.Val2172=) c.4500G>A (p.Val1500=) c.2190G>A (p.Val730=) n.6889G>A | |
| 18 | g.23905527G>C | CA503336543 | LAMA3 | c.1794G>C (p.Val598=) c.6621G>C (p.Val2207=) c.3513G>C (p.Val1171=) c.6453G>C (p.Val2151=) c.1399G>C c.1626G>C (p.Val542=) n.1199G>C c.6648G>C (p.Val2216=) c.6639G>C (p.Val2213=) c.6630G>C (p.Val2210=) c.6516G>C (p.Val2172=) c.4500G>C (p.Val1500=) c.2190G>C (p.Val730=) n.6889G>C | |
| 18 | g.23905527G>T | CA503336544 | LAMA3 | c.1794G>T (p.Val598=) c.6621G>T (p.Val2207=) c.3513G>T (p.Val1171=) c.6453G>T (p.Val2151=) c.1399G>T c.1626G>T (p.Val542=) n.1199G>T c.6648G>T (p.Val2216=) c.6639G>T (p.Val2213=) c.6630G>T (p.Val2210=) c.6516G>T (p.Val2172=) c.4500G>T (p.Val1500=) c.2190G>T (p.Val730=) n.6889G>T | gnomAD v4 |
| 18 | g.23905528A>C | CA402051261 | LAMA3 | c.1795A>C (p.Ile599Leu) c.6622A>C (p.Ile2208Leu) c.3514A>C (p.Ile1172Leu) c.6454A>C (p.Ile2152Leu) c.1400A>C c.1627A>C (p.Ile543Leu) n.1200A>C c.6649A>C (p.Ile2217Leu) c.6640A>C (p.Ile2214Leu) c.6631A>C (p.Ile2211Leu) c.6517A>C (p.Ile2173Leu) c.4501A>C (p.Ile1501Leu) c.2191A>C (p.Ile731Leu) n.6890A>C | |
| 18 | g.23905528A>G | CA402051263 | LAMA3 | c.1795A>G (p.Ile599Val) c.6622A>G (p.Ile2208Val) c.3514A>G (p.Ile1172Val) c.6454A>G (p.Ile2152Val) c.1400A>G c.1627A>G (p.Ile543Val) n.1200A>G c.6649A>G (p.Ile2217Val) c.6640A>G (p.Ile2214Val) c.6631A>G (p.Ile2211Val) c.6517A>G (p.Ile2173Val) c.4501A>G (p.Ile1501Val) c.2191A>G (p.Ile731Val) n.6890A>G | |
| 18 | g.23905528A>T | CA402051264 | LAMA3 | c.1795A>T (p.Ile599Leu) c.6622A>T (p.Ile2208Leu) c.3514A>T (p.Ile1172Leu) c.6454A>T (p.Ile2152Leu) c.1400A>T c.1627A>T (p.Ile543Leu) n.1200A>T c.6649A>T (p.Ile2217Leu) c.6640A>T (p.Ile2214Leu) c.6631A>T (p.Ile2211Leu) c.6517A>T (p.Ile2173Leu) c.4501A>T (p.Ile1501Leu) c.2191A>T (p.Ile731Leu) n.6890A>T | |
| 18 | g.23905529T>A | CA402051266 | LAMA3 | c.1796T>A (p.Ile599Lys) c.6623T>A (p.Ile2208Lys) c.3515T>A (p.Ile1172Lys) c.6455T>A (p.Ile2152Lys) c.1401T>A c.1628T>A (p.Ile543Lys) n.1201T>A c.6650T>A (p.Ile2217Lys) c.6641T>A (p.Ile2214Lys) c.6632T>A (p.Ile2211Lys) c.6518T>A (p.Ile2173Lys) c.4502T>A (p.Ile1501Lys) c.2192T>A (p.Ile731Lys) n.6891T>A | |
| 18 | g.23905529T>C | CA402051267 | LAMA3 | c.1796T>C (p.Ile599Thr) c.6623T>C (p.Ile2208Thr) c.3515T>C (p.Ile1172Thr) c.6455T>C (p.Ile2152Thr) c.1401T>C c.1628T>C (p.Ile543Thr) n.1201T>C c.6650T>C (p.Ile2217Thr) c.6641T>C (p.Ile2214Thr) c.6632T>C (p.Ile2211Thr) c.6518T>C (p.Ile2173Thr) c.4502T>C (p.Ile1501Thr) c.2192T>C (p.Ile731Thr) n.6891T>C | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23905529T>G | CA402051269 | LAMA3 | c.1796T>G (p.Ile599Arg) c.6623T>G (p.Ile2208Arg) c.3515T>G (p.Ile1172Arg) c.6455T>G (p.Ile2152Arg) c.1401T>G c.1628T>G (p.Ile543Arg) n.1201T>G c.6650T>G (p.Ile2217Arg) c.6641T>G (p.Ile2214Arg) c.6632T>G (p.Ile2211Arg) c.6518T>G (p.Ile2173Arg) c.4502T>G (p.Ile1501Arg) c.2192T>G (p.Ile731Arg) n.6891T>G | |
| 18 | g.23905529T= | CA2290325043 | LAMA3 | c.1796T= (p.Ile599=) c.6623T= (p.Ile2208=) c.3515T= (p.Ile1172=) c.6455T= (p.Ile2152=) c.1401T= c.1628T= (p.Ile543=) n.1201T= c.6650T= (p.Ile2217=) c.6641T= (p.Ile2214=) c.6632T= (p.Ile2211=) c.6518T= (p.Ile2173=) c.4502T= (p.Ile1501=) c.2192T= (p.Ile731=) n.6891T= | |
| 18 | g.23905530A>C | CA503336546 | LAMA3 | c.1797A>C (p.Ile599=) c.6624A>C (p.Ile2208=) c.3516A>C (p.Ile1172=) c.6456A>C (p.Ile2152=) c.1402A>C c.1629A>C (p.Ile543=) n.1202A>C c.6651A>C (p.Ile2217=) c.6642A>C (p.Ile2214=) c.6633A>C (p.Ile2211=) c.6519A>C (p.Ile2173=) c.4503A>C (p.Ile1501=) c.2193A>C (p.Ile731=) n.6892A>C | |
| 18 | g.23905530A>G | CA402051270 | LAMA3 | c.1797A>G (p.Ile599Met) c.6624A>G (p.Ile2208Met) c.3516A>G (p.Ile1172Met) c.6456A>G (p.Ile2152Met) c.1402A>G c.1629A>G (p.Ile543Met) n.1202A>G c.6651A>G (p.Ile2217Met) c.6642A>G (p.Ile2214Met) c.6633A>G (p.Ile2211Met) c.6519A>G (p.Ile2173Met) c.4503A>G (p.Ile1501Met) c.2193A>G (p.Ile731Met) n.6892A>G | gnomAD v4 |
| 18 | g.23905530A>T | CA503336548 | LAMA3 | c.1797A>T (p.Ile599=) c.6624A>T (p.Ile2208=) c.3516A>T (p.Ile1172=) c.6456A>T (p.Ile2152=) c.1402A>T c.1629A>T (p.Ile543=) n.1202A>T c.6651A>T (p.Ile2217=) c.6642A>T (p.Ile2214=) c.6633A>T (p.Ile2211=) c.6519A>T (p.Ile2173=) c.4503A>T (p.Ile1501=) c.2193A>T (p.Ile731=) n.6892A>T | |
| 18 | g.23905531A>C | CA402051273 | LAMA3 | c.1798A>C (p.Lys600Gln) c.6625A>C (p.Lys2209Gln) c.3517A>C (p.Lys1173Gln) c.6457A>C (p.Lys2153Gln) c.1403A>C c.1630A>C (p.Lys544Gln) n.1203A>C c.6652A>C (p.Lys2218Gln) c.6643A>C (p.Lys2215Gln) c.6634A>C (p.Lys2212Gln) c.6520A>C (p.Lys2174Gln) c.4504A>C (p.Lys1502Gln) c.2194A>C (p.Lys732Gln) n.6893A>C | |
| 18 | g.23905531A>G | CA402051275 | LAMA3 | c.1798A>G (p.Lys600Glu) c.6625A>G (p.Lys2209Glu) c.3517A>G (p.Lys1173Glu) c.6457A>G (p.Lys2153Glu) c.1403A>G c.1630A>G (p.Lys544Glu) n.1203A>G c.6652A>G (p.Lys2218Glu) c.6643A>G (p.Lys2215Glu) c.6634A>G (p.Lys2212Glu) c.6520A>G (p.Lys2174Glu) c.4504A>G (p.Lys1502Glu) c.2194A>G (p.Lys732Glu) n.6893A>G | gnomAD v4 |
| 18 | g.23905531A>T | CA402051271 | LAMA3 | c.1798A>T (p.Lys600Ter) c.6625A>T (p.Lys2209Ter) c.3517A>T (p.Lys1173Ter) c.6457A>T (p.Lys2153Ter) c.1403A>T c.1630A>T (p.Lys544Ter) n.1203A>T c.6652A>T (p.Lys2218Ter) c.6643A>T (p.Lys2215Ter) c.6634A>T (p.Lys2212Ter) c.6520A>T (p.Lys2174Ter) c.4504A>T (p.Lys1502Ter) c.2194A>T (p.Lys732Ter) n.6893A>T | |
| 18 | g.23905532A>C | CA402051276 | LAMA3 | c.1799A>C (p.Lys600Thr) c.6626A>C (p.Lys2209Thr) c.3518A>C (p.Lys1173Thr) c.6458A>C (p.Lys2153Thr) c.1404A>C c.1631A>C (p.Lys544Thr) n.1204A>C c.6653A>C (p.Lys2218Thr) c.6644A>C (p.Lys2215Thr) c.6635A>C (p.Lys2212Thr) c.6521A>C (p.Lys2174Thr) c.4505A>C (p.Lys1502Thr) c.2195A>C (p.Lys732Thr) n.6894A>C | |
| 18 | g.23905532A>G | CA402051278 | LAMA3 | c.1799A>G (p.Lys600Arg) c.6626A>G (p.Lys2209Arg) c.3518A>G (p.Lys1173Arg) c.6458A>G (p.Lys2153Arg) c.1404A>G c.1631A>G (p.Lys544Arg) n.1204A>G c.6653A>G (p.Lys2218Arg) c.6644A>G (p.Lys2215Arg) c.6635A>G (p.Lys2212Arg) c.6521A>G (p.Lys2174Arg) c.4505A>G (p.Lys1502Arg) c.2195A>G (p.Lys732Arg) n.6894A>G | gnomAD v4 |
| 18 | g.23905532A>T | CA402051280 | LAMA3 | c.1799A>T (p.Lys600Met) c.6626A>T (p.Lys2209Met) c.3518A>T (p.Lys1173Met) c.6458A>T (p.Lys2153Met) c.1404A>T c.1631A>T (p.Lys544Met) n.1204A>T c.6653A>T (p.Lys2218Met) c.6644A>T (p.Lys2215Met) c.6635A>T (p.Lys2212Met) c.6521A>T (p.Lys2174Met) c.4505A>T (p.Lys1502Met) c.2195A>T (p.Lys732Met) n.6894A>T | |
| 18 | g.23905533G>A | CA503336551 | LAMA3 | c.1800G>A (p.Lys600=) c.6627G>A (p.Lys2209=) c.3519G>A (p.Lys1173=) c.6459G>A (p.Lys2153=) c.1405G>A c.1632G>A (p.Lys544=) n.1205G>A c.6654G>A (p.Lys2218=) c.6645G>A (p.Lys2215=) c.6636G>A (p.Lys2212=) c.6522G>A (p.Lys2174=) c.4506G>A (p.Lys1502=) c.2196G>A (p.Lys732=) n.6895G>A | |
| 18 | g.23905533G>C | CA402051282 | LAMA3 | c.1800G>C (p.Lys600Asn) c.6627G>C (p.Lys2209Asn) c.3519G>C (p.Lys1173Asn) c.6459G>C (p.Lys2153Asn) c.1405G>C c.1632G>C (p.Lys544Asn) n.1205G>C c.6654G>C (p.Lys2218Asn) c.6645G>C (p.Lys2215Asn) c.6636G>C (p.Lys2212Asn) c.6522G>C (p.Lys2174Asn) c.4506G>C (p.Lys1502Asn) c.2196G>C (p.Lys732Asn) n.6895G>C | |
| 18 | g.23905533G>T | CA402051283 | LAMA3 | c.1800G>T (p.Lys600Asn) c.6627G>T (p.Lys2209Asn) c.3519G>T (p.Lys1173Asn) c.6459G>T (p.Lys2153Asn) c.1405G>T c.1632G>T (p.Lys544Asn) n.1205G>T c.6654G>T (p.Lys2218Asn) c.6645G>T (p.Lys2215Asn) c.6636G>T (p.Lys2212Asn) c.6522G>T (p.Lys2174Asn) c.4506G>T (p.Lys1502Asn) c.2196G>T (p.Lys732Asn) n.6895G>T | |
| 18 | g.23905534G>A | CA402051285 | LAMA3 | c.1801G>A (p.Glu601Lys) c.6628G>A (p.Glu2210Lys) c.3520G>A (p.Glu1174Lys) c.6460G>A (p.Glu2154Lys) c.1406G>A c.1633G>A (p.Glu545Lys) n.1206G>A c.6655G>A (p.Glu2219Lys) c.6646G>A (p.Glu2216Lys) c.6637G>A (p.Glu2213Lys) c.6523G>A (p.Glu2175Lys) c.4507G>A (p.Glu1503Lys) c.2197G>A (p.Glu733Lys) n.6896G>A | |
| 18 | g.23905534G>C | CA402051286 | LAMA3 | c.1801G>C (p.Glu601Gln) c.6628G>C (p.Glu2210Gln) c.3520G>C (p.Glu1174Gln) c.6460G>C (p.Glu2154Gln) c.1406G>C c.1633G>C (p.Glu545Gln) n.1206G>C c.6655G>C (p.Glu2219Gln) c.6646G>C (p.Glu2216Gln) c.6637G>C (p.Glu2213Gln) c.6523G>C (p.Glu2175Gln) c.4507G>C (p.Glu1503Gln) c.2197G>C (p.Glu733Gln) n.6896G>C | |
| 18 | g.23905534G>T | CA402051288 | LAMA3 | c.1801G>T (p.Glu601Ter) c.6628G>T (p.Glu2210Ter) c.3520G>T (p.Glu1174Ter) c.6460G>T (p.Glu2154Ter) c.1406G>T c.1633G>T (p.Glu545Ter) n.1206G>T c.6655G>T (p.Glu2219Ter) c.6646G>T (p.Glu2216Ter) c.6637G>T (p.Glu2213Ter) c.6523G>T (p.Glu2175Ter) c.4507G>T (p.Glu1503Ter) c.2197G>T (p.Glu733Ter) n.6896G>T | |
| 18 | g.23905535A= | CA2290325044 | LAMA3 | c.1802A= (p.Glu601=) c.6629A= (p.Glu2210=) c.3521A= (p.Glu1174=) c.6461A= (p.Glu2154=) c.1407A= c.1634A= (p.Glu545=) n.1207A= c.6656A= (p.Glu2219=) c.6647A= (p.Glu2216=) c.6638A= (p.Glu2213=) c.6524A= (p.Glu2175=) c.4508A= (p.Glu1503=) c.2198A= (p.Glu733=) n.6897A= | |
| 18 | g.23905535A>C | CA402051291 | LAMA3 | c.1802A>C (p.Glu601Ala) c.6629A>C (p.Glu2210Ala) c.3521A>C (p.Glu1174Ala) c.6461A>C (p.Glu2154Ala) c.1407A>C c.1634A>C (p.Glu545Ala) n.1207A>C c.6656A>C (p.Glu2219Ala) c.6647A>C (p.Glu2216Ala) c.6638A>C (p.Glu2213Ala) c.6524A>C (p.Glu2175Ala) c.4508A>C (p.Glu1503Ala) c.2198A>C (p.Glu733Ala) n.6897A>C | |
| 18 | g.23905535A>G | CA402051292 | LAMA3 | c.1802A>G (p.Glu601Gly) c.6629A>G (p.Glu2210Gly) c.3521A>G (p.Glu1174Gly) c.6461A>G (p.Glu2154Gly) c.1407A>G c.1634A>G (p.Glu545Gly) n.1207A>G c.6656A>G (p.Glu2219Gly) c.6647A>G (p.Glu2216Gly) c.6638A>G (p.Glu2213Gly) c.6524A>G (p.Glu2175Gly) c.4508A>G (p.Glu1503Gly) c.2198A>G (p.Glu733Gly) n.6897A>G | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23905535A>T | CA402051294 | LAMA3 | c.1802A>T (p.Glu601Val) c.6629A>T (p.Glu2210Val) c.3521A>T (p.Glu1174Val) c.6461A>T (p.Glu2154Val) c.1407A>T c.1634A>T (p.Glu545Val) n.1207A>T c.6656A>T (p.Glu2219Val) c.6647A>T (p.Glu2216Val) c.6638A>T (p.Glu2213Val) c.6524A>T (p.Glu2175Val) c.4508A>T (p.Glu1503Val) c.2198A>T (p.Glu733Val) n.6897A>T | |
| 18 | g.23905536A>C | CA402051295 | LAMA3 | c.1803A>C (p.Glu601Asp) c.6630A>C (p.Glu2210Asp) c.3522A>C (p.Glu1174Asp) c.6462A>C (p.Glu2154Asp) c.1408A>C c.1635A>C (p.Glu545Asp) n.1208A>C c.6657A>C (p.Glu2219Asp) c.6648A>C (p.Glu2216Asp) c.6639A>C (p.Glu2213Asp) c.6525A>C (p.Glu2175Asp) c.4509A>C (p.Glu1503Asp) c.2199A>C (p.Glu733Asp) n.6898A>C | |
| 18 | g.23905536A>G | CA503336555 | LAMA3 | c.1803A>G (p.Glu601=) c.6630A>G (p.Glu2210=) c.3522A>G (p.Glu1174=) c.6462A>G (p.Glu2154=) c.1408A>G c.1635A>G (p.Glu545=) n.1208A>G c.6657A>G (p.Glu2219=) c.6648A>G (p.Glu2216=) c.6639A>G (p.Glu2213=) c.6525A>G (p.Glu2175=) c.4509A>G (p.Glu1503=) c.2199A>G (p.Glu733=) n.6898A>G | |
| 18 | g.23905536A>T | CA402051296 | LAMA3 | c.1803A>T (p.Glu601Asp) c.6630A>T (p.Glu2210Asp) c.3522A>T (p.Glu1174Asp) c.6462A>T (p.Glu2154Asp) c.1408A>T c.1635A>T (p.Glu545Asp) n.1208A>T c.6657A>T (p.Glu2219Asp) c.6648A>T (p.Glu2216Asp) c.6639A>T (p.Glu2213Asp) c.6525A>T (p.Glu2175Asp) c.4509A>T (p.Glu1503Asp) c.2199A>T (p.Glu733Asp) n.6898A>T | |
| 18 | g.23905537G>A | CA402051299 | LAMA3 | c.1804G>A (p.Asp602Asn) c.6631G>A (p.Asp2211Asn) c.3523G>A (p.Asp1175Asn) c.6463G>A (p.Asp2155Asn) c.1409G>A c.1636G>A (p.Asp546Asn) n.1209G>A c.6658G>A (p.Asp2220Asn) c.6649G>A (p.Asp2217Asn) c.6640G>A (p.Asp2214Asn) c.6526G>A (p.Asp2176Asn) c.4510G>A (p.Asp1504Asn) c.2200G>A (p.Asp734Asn) n.6899G>A | |
| 18 | g.23905537G>C | CA402051298 | LAMA3 | c.1804G>C (p.Asp602His) c.6631G>C (p.Asp2211His) c.3523G>C (p.Asp1175His) c.6463G>C (p.Asp2155His) c.1409G>C c.1636G>C (p.Asp546His) n.1209G>C c.6658G>C (p.Asp2220His) c.6649G>C (p.Asp2217His) c.6640G>C (p.Asp2214His) c.6526G>C (p.Asp2176His) c.4510G>C (p.Asp1504His) c.2200G>C (p.Asp734His) n.6899G>C | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23905537G= | CA2290325045 | LAMA3 | c.1804G= (p.Asp602=) c.6631G= (p.Asp2211=) c.3523G= (p.Asp1175=) c.6463G= (p.Asp2155=) c.1409G= c.1636G= (p.Asp546=) n.1209G= c.6658G= (p.Asp2220=) c.6649G= (p.Asp2217=) c.6640G= (p.Asp2214=) c.6526G= (p.Asp2176=) c.4510G= (p.Asp1504=) c.2200G= (p.Asp734=) n.6899G= | |
| 18 | g.23905537G>T | CA402051297 | LAMA3 | c.1804G>T (p.Asp602Tyr) c.6631G>T (p.Asp2211Tyr) c.3523G>T (p.Asp1175Tyr) c.6463G>T (p.Asp2155Tyr) c.1409G>T c.1636G>T (p.Asp546Tyr) n.1209G>T c.6658G>T (p.Asp2220Tyr) c.6649G>T (p.Asp2217Tyr) c.6640G>T (p.Asp2214Tyr) c.6526G>T (p.Asp2176Tyr) c.4510G>T (p.Asp1504Tyr) c.2200G>T (p.Asp734Tyr) n.6899G>T | |
| 18 | g.23905538A>C | CA402051300 | LAMA3 | c.1805A>C (p.Asp602Ala) c.6632A>C (p.Asp2211Ala) c.3524A>C (p.Asp1175Ala) c.6464A>C (p.Asp2155Ala) c.1410A>C c.1637A>C (p.Asp546Ala) n.1210A>C c.6659A>C (p.Asp2220Ala) c.6650A>C (p.Asp2217Ala) c.6641A>C (p.Asp2214Ala) c.6527A>C (p.Asp2176Ala) c.4511A>C (p.Asp1504Ala) c.2201A>C (p.Asp734Ala) n.6900A>C | |
| 18 | g.23905538A>G | CA402051301 | LAMA3 | c.1805A>G (p.Asp602Gly) c.6632A>G (p.Asp2211Gly) c.3524A>G (p.Asp1175Gly) c.6464A>G (p.Asp2155Gly) c.1410A>G c.1637A>G (p.Asp546Gly) n.1210A>G c.6659A>G (p.Asp2220Gly) c.6650A>G (p.Asp2217Gly) c.6641A>G (p.Asp2214Gly) c.6527A>G (p.Asp2176Gly) c.4511A>G (p.Asp1504Gly) c.2201A>G (p.Asp734Gly) n.6900A>G | |
| 18 | g.23905538A>T | CA402051302 | LAMA3 | c.1805A>T (p.Asp602Val) c.6632A>T (p.Asp2211Val) c.3524A>T (p.Asp1175Val) c.6464A>T (p.Asp2155Val) c.1410A>T c.1637A>T (p.Asp546Val) n.1210A>T c.6659A>T (p.Asp2220Val) c.6650A>T (p.Asp2217Val) c.6641A>T (p.Asp2214Val) c.6527A>T (p.Asp2176Val) c.4511A>T (p.Asp1504Val) c.2201A>T (p.Asp734Val) n.6900A>T | |
| 18 | g.23905539T>A | CA402051303 | LAMA3 | c.1806T>A (p.Asp602Glu) c.6633T>A (p.Asp2211Glu) c.3525T>A (p.Asp1175Glu) c.6465T>A (p.Asp2155Glu) c.1411T>A c.1638T>A (p.Asp546Glu) n.1211T>A c.6660T>A (p.Asp2220Glu) c.6651T>A (p.Asp2217Glu) c.6642T>A (p.Asp2214Glu) c.6528T>A (p.Asp2176Glu) c.4512T>A (p.Asp1504Glu) c.2202T>A (p.Asp734Glu) n.6901T>A | gnomAD v4 |
| 18 | g.23905539T>C | CA503336559 | LAMA3 | c.1806T>C (p.Asp602=) c.6633T>C (p.Asp2211=) c.3525T>C (p.Asp1175=) c.6465T>C (p.Asp2155=) c.1411T>C c.1638T>C (p.Asp546=) n.1211T>C c.6660T>C (p.Asp2220=) c.6651T>C (p.Asp2217=) c.6642T>C (p.Asp2214=) c.6528T>C (p.Asp2176=) c.4512T>C (p.Asp1504=) c.2202T>C (p.Asp734=) n.6901T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23905539T>G | CA402051304 | LAMA3 | c.1806T>G (p.Asp602Glu) c.6633T>G (p.Asp2211Glu) c.3525T>G (p.Asp1175Glu) c.6465T>G (p.Asp2155Glu) c.1411T>G c.1638T>G (p.Asp546Glu) n.1211T>G c.6660T>G (p.Asp2220Glu) c.6651T>G (p.Asp2217Glu) c.6642T>G (p.Asp2214Glu) c.6528T>G (p.Asp2176Glu) c.4512T>G (p.Asp1504Glu) c.2202T>G (p.Asp734Glu) n.6901T>G | |
| 18 | g.23905539T= | CA2290325046 | LAMA3 | c.1806T= (p.Asp602=) c.6633T= (p.Asp2211=) c.3525T= (p.Asp1175=) c.6465T= (p.Asp2155=) c.1411T= c.1638T= (p.Asp546=) n.1211T= c.6660T= (p.Asp2220=) c.6651T= (p.Asp2217=) c.6642T= (p.Asp2214=) c.6528T= (p.Asp2176=) c.4512T= (p.Asp1504=) c.2202T= (p.Asp734=) n.6901T= |