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.127428603_127428616dup | CA2660997781 | PROC | c.1043_1056dup (p.Lys353GlufsTer30) c.367_380dup c.1145_1158dup (p.Lys387GlufsTer30) c.1226_1239dup (p.Lys414GlufsTer30) c.1208_1221dup (p.Lys408GlufsTer30) c.1106_1119dup (p.Lys374GlufsTer30) n.1332-349_1332-336dup c.1286_1299dup (p.Lys434GlufsTer30) c.1388_1401dup (p.Lys468GlufsTer30) c.1328_1341dup (p.Lys448GlufsTer30) n.3607-349_3607-336dup n.4043-349_4043-336dup c.1211_1224dup (p.Lys409GlufsTer30) c.1229_1242dup (p.Lys415GlufsTer30) c.986_999dup (p.Lys334GlufsTer30) c.1019_1032dup (p.Lys345GlufsTer30) c.1037_1050dup (p.Lys351GlufsTer30) | gnomAD v4 |
| 2 | g.127428607_127428608del | CA536067712 | PROC | c.1047_1048del (p.Lys350GlyfsTer22) c.371_372del c.1149_1150del (p.Lys384GlyfsTer22) c.1230_1231del (p.Lys411GlyfsTer22) c.1212_1213del (p.Lys405GlyfsTer22) c.1110_1111del (p.Lys371GlyfsTer22) n.1332-340_1332-339del c.1290_1291del (p.Lys431GlyfsTer22) c.1392_1393del (p.Lys465GlyfsTer22) c.1332_1333del (p.Lys445GlyfsTer22) n.3607-340_3607-339del n.4043-340_4043-339del c.1215_1216del (p.Lys406GlyfsTer22) c.1233_1234del (p.Lys412GlyfsTer22) c.990_991del (p.Lys331GlyfsTer22) c.1023_1024del (p.Lys342GlyfsTer22) c.1041_1042del (p.Lys348GlyfsTer22) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428607G>A | CA55351005 | PROC | c.1047G>A (p.Glu349=) c.371G>A c.1149G>A (p.Glu383=) c.1230G>A (p.Glu410=) c.1212G>A (p.Glu404=) c.1110G>A (p.Glu370=) n.1332-343C>T c.1290G>A (p.Glu430=) c.1392G>A (p.Glu464=) c.1332G>A (p.Glu444=) n.3607-343C>T n.4043-343C>T c.1215G>A (p.Glu405=) c.1233G>A (p.Glu411=) c.990G>A (p.Glu330=) c.1023G>A (p.Glu341=) c.1041G>A (p.Glu347=) | dbSNP gnomAD v4 |
| 2 | g.127428607G>C | CA1859510 | PROC | c.1047G>C (p.Glu349Asp) c.371G>C c.1149G>C (p.Glu383Asp) c.1230G>C (p.Glu410Asp) c.1212G>C (p.Glu404Asp) c.1110G>C (p.Glu370Asp) n.1332-343C>G c.1290G>C (p.Glu430Asp) c.1392G>C (p.Glu464Asp) c.1332G>C (p.Glu444Asp) n.3607-343C>G n.4043-343C>G c.1215G>C (p.Glu405Asp) c.1233G>C (p.Glu411Asp) c.990G>C (p.Glu330Asp) c.1023G>C (p.Glu341Asp) c.1041G>C (p.Glu347Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428607G= | CA1286884547 | PROC | c.1047G= (p.Glu349=) c.371G= c.1149G= (p.Glu383=) c.1230G= (p.Glu410=) c.1212G= (p.Glu404=) c.1110G= (p.Glu370=) n.1332-343C= c.1290G= (p.Glu430=) c.1392G= (p.Glu464=) c.1332G= (p.Glu444=) n.3607-343C= n.4043-343C= c.1215G= (p.Glu405=) c.1233G= (p.Glu411=) c.990G= (p.Glu330=) c.1023G= (p.Glu341=) c.1041G= (p.Glu347=) | |
| 2 | g.127428607G>T | CA348405633 | PROC | c.1047G>T (p.Glu349Asp) c.371G>T c.1149G>T (p.Glu383Asp) c.1230G>T (p.Glu410Asp) c.1212G>T (p.Glu404Asp) c.1110G>T (p.Glu370Asp) n.1332-343C>A c.1290G>T (p.Glu430Asp) c.1392G>T (p.Glu464Asp) c.1332G>T (p.Glu444Asp) n.3607-343C>A n.4043-343C>A c.1215G>T (p.Glu405Asp) c.1233G>T (p.Glu411Asp) c.990G>T (p.Glu330Asp) c.1023G>T (p.Glu341Asp) c.1041G>T (p.Glu347Asp) | |
| 2 | g.127428608A= | CA1286884548 | PROC | c.1048A= (p.Lys350=) c.372A= c.1150A= (p.Lys384=) c.1231A= (p.Lys411=) c.1213A= (p.Lys405=) c.1111A= (p.Lys371=) n.1332-344T= c.1291A= (p.Lys431=) c.1393A= (p.Lys465=) c.1333A= (p.Lys445=) n.3607-344T= n.4043-344T= c.1216A= (p.Lys406=) c.1234A= (p.Lys412=) c.991A= (p.Lys331=) c.1024A= (p.Lys342=) c.1042A= (p.Lys348=) | |
| 2 | g.127428608A>C | CA348405636 | PROC | c.1048A>C (p.Lys350Gln) c.372A>C c.1150A>C (p.Lys384Gln) c.1231A>C (p.Lys411Gln) c.1213A>C (p.Lys405Gln) c.1111A>C (p.Lys371Gln) n.1332-344T>G c.1291A>C (p.Lys431Gln) c.1393A>C (p.Lys465Gln) c.1333A>C (p.Lys445Gln) n.3607-344T>G n.4043-344T>G c.1216A>C (p.Lys406Gln) c.1234A>C (p.Lys412Gln) c.991A>C (p.Lys331Gln) c.1024A>C (p.Lys342Gln) c.1042A>C (p.Lys348Gln) | |
| 2 | g.127428608A>G | CA348405638 | PROC | c.1048A>G (p.Lys350Glu) c.372A>G c.1150A>G (p.Lys384Glu) c.1231A>G (p.Lys411Glu) c.1213A>G (p.Lys405Glu) c.1111A>G (p.Lys371Glu) n.1332-344T>C c.1291A>G (p.Lys431Glu) c.1393A>G (p.Lys465Glu) c.1333A>G (p.Lys445Glu) n.3607-344T>C n.4043-344T>C c.1216A>G (p.Lys406Glu) c.1234A>G (p.Lys412Glu) c.991A>G (p.Lys331Glu) c.1024A>G (p.Lys342Glu) c.1042A>G (p.Lys348Glu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428608A>T | CA348405639 | PROC | c.1048A>T (p.Lys350Ter) c.372A>T c.1150A>T (p.Lys384Ter) c.1231A>T (p.Lys411Ter) c.1213A>T (p.Lys405Ter) c.1111A>T (p.Lys371Ter) n.1332-344T>A c.1291A>T (p.Lys431Ter) c.1393A>T (p.Lys465Ter) c.1333A>T (p.Lys445Ter) n.3607-344T>A n.4043-344T>A c.1216A>T (p.Lys406Ter) c.1234A>T (p.Lys412Ter) c.991A>T (p.Lys331Ter) c.1024A>T (p.Lys342Ter) c.1042A>T (p.Lys348Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.127428609A= | CA1286884549 | PROC | c.1049A= (p.Lys350=) c.373A= c.1151A= (p.Lys384=) c.1232A= (p.Lys411=) c.1214A= (p.Lys405=) c.1112A= (p.Lys371=) n.1332-345T= c.1292A= (p.Lys431=) c.1394A= (p.Lys465=) c.1334A= (p.Lys445=) n.3607-345T= n.4043-345T= c.1217A= (p.Lys406=) c.1235A= (p.Lys412=) c.992A= (p.Lys331=) c.1025A= (p.Lys342=) c.1043A= (p.Lys348=) | |
| 2 | g.127428609A>C | CA55351006 | PROC | c.1049A>C (p.Lys350Thr) c.373A>C c.1151A>C (p.Lys384Thr) c.1232A>C (p.Lys411Thr) c.1214A>C (p.Lys405Thr) c.1112A>C (p.Lys371Thr) n.1332-345T>G c.1292A>C (p.Lys431Thr) c.1394A>C (p.Lys465Thr) c.1334A>C (p.Lys445Thr) n.3607-345T>G n.4043-345T>G c.1217A>C (p.Lys406Thr) c.1235A>C (p.Lys412Thr) c.992A>C (p.Lys331Thr) c.1025A>C (p.Lys342Thr) c.1043A>C (p.Lys348Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428609A>G | CA348405645 | PROC | c.1049A>G (p.Lys350Arg) c.373A>G c.1151A>G (p.Lys384Arg) c.1232A>G (p.Lys411Arg) c.1214A>G (p.Lys405Arg) c.1112A>G (p.Lys371Arg) n.1332-345T>C c.1292A>G (p.Lys431Arg) c.1394A>G (p.Lys465Arg) c.1334A>G (p.Lys445Arg) n.3607-345T>C n.4043-345T>C c.1217A>G (p.Lys406Arg) c.1235A>G (p.Lys412Arg) c.992A>G (p.Lys331Arg) c.1025A>G (p.Lys342Arg) c.1043A>G (p.Lys348Arg) | |
| 2 | g.127428609A>T | CA348405643 | PROC | c.1049A>T (p.Lys350Met) c.373A>T c.1151A>T (p.Lys384Met) c.1232A>T (p.Lys411Met) c.1214A>T (p.Lys405Met) c.1112A>T (p.Lys371Met) n.1332-345T>A c.1292A>T (p.Lys431Met) c.1394A>T (p.Lys465Met) c.1334A>T (p.Lys445Met) n.3607-345T>A n.4043-345T>A c.1217A>T (p.Lys406Met) c.1235A>T (p.Lys412Met) c.992A>T (p.Lys331Met) c.1025A>T (p.Lys342Met) c.1043A>T (p.Lys348Met) | |
| 2 | g.127428610G>A | CA1859511 | PROC | c.1050G>A (p.Lys350=) c.374G>A c.1152G>A (p.Lys384=) c.1233G>A (p.Lys411=) c.1215G>A (p.Lys405=) c.1113G>A (p.Lys371=) n.1332-346C>T c.1293G>A (p.Lys431=) c.1395G>A (p.Lys465=) c.1335G>A (p.Lys445=) n.3607-346C>T n.4043-346C>T c.1218G>A (p.Lys406=) c.1236G>A (p.Lys412=) c.993G>A (p.Lys331=) c.1026G>A (p.Lys342=) c.1044G>A (p.Lys348=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428610G>C | CA348405648 | PROC | c.1050G>C (p.Lys350Asn) c.374G>C c.1152G>C (p.Lys384Asn) c.1233G>C (p.Lys411Asn) c.1215G>C (p.Lys405Asn) c.1113G>C (p.Lys371Asn) n.1332-346C>G c.1293G>C (p.Lys431Asn) c.1395G>C (p.Lys465Asn) c.1335G>C (p.Lys445Asn) n.3607-346C>G n.4043-346C>G c.1218G>C (p.Lys406Asn) c.1236G>C (p.Lys412Asn) c.993G>C (p.Lys331Asn) c.1026G>C (p.Lys342Asn) c.1044G>C (p.Lys348Asn) | |
| 2 | g.127428610G= | CA1286884550 | PROC | c.1050G= (p.Lys350=) c.374G= c.1152G= (p.Lys384=) c.1233G= (p.Lys411=) c.1215G= (p.Lys405=) c.1113G= (p.Lys371=) n.1332-346C= c.1293G= (p.Lys431=) c.1395G= (p.Lys465=) c.1335G= (p.Lys445=) n.3607-346C= n.4043-346C= c.1218G= (p.Lys406=) c.1236G= (p.Lys412=) c.993G= (p.Lys331=) c.1026G= (p.Lys342=) c.1044G= (p.Lys348=) | |
| 2 | g.127428610G>T | CA348405650 | PROC | c.1050G>T (p.Lys350Asn) c.374G>T c.1152G>T (p.Lys384Asn) c.1233G>T (p.Lys411Asn) c.1215G>T (p.Lys405Asn) c.1113G>T (p.Lys371Asn) n.1332-346C>A c.1293G>T (p.Lys431Asn) c.1395G>T (p.Lys465Asn) c.1335G>T (p.Lys445Asn) n.3607-346C>A n.4043-346C>A c.1218G>T (p.Lys406Asn) c.1236G>T (p.Lys412Asn) c.993G>T (p.Lys331Asn) c.1026G>T (p.Lys342Asn) c.1044G>T (p.Lys348Asn) | |
| 2 | g.127428611G>A | CA348405652 | PROC | c.1051G>A (p.Glu351Lys) c.375G>A c.1153G>A (p.Glu385Lys) c.1234G>A (p.Glu412Lys) c.1216G>A (p.Glu406Lys) c.1114G>A (p.Glu372Lys) n.1332-347C>T c.1294G>A (p.Glu432Lys) c.1396G>A (p.Glu466Lys) c.1336G>A (p.Glu446Lys) n.3607-347C>T n.4043-347C>T c.1219G>A (p.Glu407Lys) c.1237G>A (p.Glu413Lys) c.994G>A (p.Glu332Lys) c.1027G>A (p.Glu343Lys) c.1045G>A (p.Glu349Lys) | |
| 2 | g.127428611G>C | CA348405653 | PROC | c.1051G>C (p.Glu351Gln) c.375G>C c.1153G>C (p.Glu385Gln) c.1234G>C (p.Glu412Gln) c.1216G>C (p.Glu406Gln) c.1114G>C (p.Glu372Gln) n.1332-347C>G c.1294G>C (p.Glu432Gln) c.1396G>C (p.Glu466Gln) c.1336G>C (p.Glu446Gln) n.3607-347C>G n.4043-347C>G c.1219G>C (p.Glu407Gln) c.1237G>C (p.Glu413Gln) c.994G>C (p.Glu332Gln) c.1027G>C (p.Glu343Gln) c.1045G>C (p.Glu349Gln) | |
| 2 | g.127428611G>T | CA348405656 | PROC | c.1051G>T (p.Glu351Ter) c.375G>T c.1153G>T (p.Glu385Ter) c.1234G>T (p.Glu412Ter) c.1216G>T (p.Glu406Ter) c.1114G>T (p.Glu372Ter) n.1332-347C>A c.1294G>T (p.Glu432Ter) c.1396G>T (p.Glu466Ter) c.1336G>T (p.Glu446Ter) n.3607-347C>A n.4043-347C>A c.1219G>T (p.Glu407Ter) c.1237G>T (p.Glu413Ter) c.994G>T (p.Glu332Ter) c.1027G>T (p.Glu343Ter) c.1045G>T (p.Glu349Ter) | |
| 2 | g.127428612A= | CA1286884551 | PROC | c.1052A= (p.Glu351=) c.376A= c.1154A= (p.Glu385=) c.1235A= (p.Glu412=) c.1217A= (p.Glu406=) c.1115A= (p.Glu372=) n.1332-348T= c.1295A= (p.Glu432=) c.1397A= (p.Glu466=) c.1337A= (p.Glu446=) n.3607-348T= n.4043-348T= c.1220A= (p.Glu407=) c.1238A= (p.Glu413=) c.995A= (p.Glu332=) c.1028A= (p.Glu343=) c.1046A= (p.Glu349=) | |
| 2 | g.127428612A>C | CA348405658 | PROC | c.1052A>C (p.Glu351Ala) c.376A>C c.1154A>C (p.Glu385Ala) c.1235A>C (p.Glu412Ala) c.1217A>C (p.Glu406Ala) c.1115A>C (p.Glu372Ala) n.1332-348T>G c.1295A>C (p.Glu432Ala) c.1397A>C (p.Glu466Ala) c.1337A>C (p.Glu446Ala) n.3607-348T>G n.4043-348T>G c.1220A>C (p.Glu407Ala) c.1238A>C (p.Glu413Ala) c.995A>C (p.Glu332Ala) c.1028A>C (p.Glu343Ala) c.1046A>C (p.Glu349Ala) | dbSNP |
| 2 | g.127428612A>G | CA348405659 | PROC | c.1052A>G (p.Glu351Gly) c.376A>G c.1154A>G (p.Glu385Gly) c.1235A>G (p.Glu412Gly) c.1217A>G (p.Glu406Gly) c.1115A>G (p.Glu372Gly) n.1332-348T>C c.1295A>G (p.Glu432Gly) c.1397A>G (p.Glu466Gly) c.1337A>G (p.Glu446Gly) n.3607-348T>C n.4043-348T>C c.1220A>G (p.Glu407Gly) c.1238A>G (p.Glu413Gly) c.995A>G (p.Glu332Gly) c.1028A>G (p.Glu343Gly) c.1046A>G (p.Glu349Gly) | |
| 2 | g.127428612A>T | CA348405660 | PROC | c.1052A>T (p.Glu351Val) c.376A>T c.1154A>T (p.Glu385Val) c.1235A>T (p.Glu412Val) c.1217A>T (p.Glu406Val) c.1115A>T (p.Glu372Val) n.1332-348T>A c.1295A>T (p.Glu432Val) c.1397A>T (p.Glu466Val) c.1337A>T (p.Glu446Val) n.3607-348T>A n.4043-348T>A c.1220A>T (p.Glu407Val) c.1238A>T (p.Glu413Val) c.995A>T (p.Glu332Val) c.1028A>T (p.Glu343Val) c.1046A>T (p.Glu349Val) | |
| 2 | g.127428613G>A | CA428872906 | PROC | c.1053G>A (p.Glu351=) c.377G>A c.1155G>A (p.Glu385=) c.1236G>A (p.Glu412=) c.1218G>A (p.Glu406=) c.1116G>A (p.Glu372=) n.1332-349C>T c.1296G>A (p.Glu432=) c.1398G>A (p.Glu466=) c.1338G>A (p.Glu446=) n.3607-349C>T n.4043-349C>T c.1221G>A (p.Glu407=) c.1239G>A (p.Glu413=) c.996G>A (p.Glu332=) c.1029G>A (p.Glu343=) c.1047G>A (p.Glu349=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428613G>C | CA348405661 | PROC | c.1053G>C (p.Glu351Asp) c.377G>C c.1155G>C (p.Glu385Asp) c.1236G>C (p.Glu412Asp) c.1218G>C (p.Glu406Asp) c.1116G>C (p.Glu372Asp) n.1332-349C>G c.1296G>C (p.Glu432Asp) c.1398G>C (p.Glu466Asp) c.1338G>C (p.Glu446Asp) n.3607-349C>G n.4043-349C>G c.1221G>C (p.Glu407Asp) c.1239G>C (p.Glu413Asp) c.996G>C (p.Glu332Asp) c.1029G>C (p.Glu343Asp) c.1047G>C (p.Glu349Asp) | |
| 2 | g.127428613G= | CA1286884552 | PROC | c.1053G= (p.Glu351=) c.377G= c.1155G= (p.Glu385=) c.1236G= (p.Glu412=) c.1218G= (p.Glu406=) c.1116G= (p.Glu372=) n.1332-349C= c.1296G= (p.Glu432=) c.1398G= (p.Glu466=) c.1338G= (p.Glu446=) n.3607-349C= n.4043-349C= c.1221G= (p.Glu407=) c.1239G= (p.Glu413=) c.996G= (p.Glu332=) c.1029G= (p.Glu343=) c.1047G= (p.Glu349=) | |
| 2 | g.127428613G>T | CA348405662 | PROC | c.1053G>T (p.Glu351Asp) c.377G>T c.1155G>T (p.Glu385Asp) c.1236G>T (p.Glu412Asp) c.1218G>T (p.Glu406Asp) c.1116G>T (p.Glu372Asp) n.1332-349C>A c.1296G>T (p.Glu432Asp) c.1398G>T (p.Glu466Asp) c.1338G>T (p.Glu446Asp) n.3607-349C>A n.4043-349C>A c.1221G>T (p.Glu407Asp) c.1239G>T (p.Glu413Asp) c.996G>T (p.Glu332Asp) c.1029G>T (p.Glu343Asp) c.1047G>T (p.Glu349Asp) | |
| 2 | g.127428614G>A | CA348405664 | PROC | c.1054G>A (p.Ala352Thr) c.378G>A c.1156G>A (p.Ala386Thr) c.1237G>A (p.Ala413Thr) c.1219G>A (p.Ala407Thr) c.1117G>A (p.Ala373Thr) n.1332-350C>T c.1297G>A (p.Ala433Thr) c.1399G>A (p.Ala467Thr) c.1339G>A (p.Ala447Thr) n.3607-350C>T n.4043-350C>T c.1222G>A (p.Ala408Thr) c.1240G>A (p.Ala414Thr) c.997G>A (p.Ala333Thr) c.1030G>A (p.Ala344Thr) c.1048G>A (p.Ala350Thr) | |
| 2 | g.127428614G>C | CA55351014 | PROC | c.1054G>C (p.Ala352Pro) c.378G>C c.1156G>C (p.Ala386Pro) c.1237G>C (p.Ala413Pro) c.1219G>C (p.Ala407Pro) c.1117G>C (p.Ala373Pro) n.1332-350C>G c.1297G>C (p.Ala433Pro) c.1399G>C (p.Ala467Pro) c.1339G>C (p.Ala447Pro) n.3607-350C>G n.4043-350C>G c.1222G>C (p.Ala408Pro) c.1240G>C (p.Ala414Pro) c.997G>C (p.Ala333Pro) c.1030G>C (p.Ala344Pro) c.1048G>C (p.Ala350Pro) | dbSNP |
| 2 | g.127428614G= | CA1286884553 | PROC | c.1054G= (p.Ala352=) c.378G= c.1156G= (p.Ala386=) c.1237G= (p.Ala413=) c.1219G= (p.Ala407=) c.1117G= (p.Ala373=) n.1332-350C= c.1297G= (p.Ala433=) c.1399G= (p.Ala467=) c.1339G= (p.Ala447=) n.3607-350C= n.4043-350C= c.1222G= (p.Ala408=) c.1240G= (p.Ala414=) c.997G= (p.Ala333=) c.1030G= (p.Ala344=) c.1048G= (p.Ala350=) | |
| 2 | g.127428614G>T | CA348405663 | PROC | c.1054G>T (p.Ala352Ser) c.378G>T c.1156G>T (p.Ala386Ser) c.1237G>T (p.Ala413Ser) c.1219G>T (p.Ala407Ser) c.1117G>T (p.Ala373Ser) n.1332-350C>A c.1297G>T (p.Ala433Ser) c.1399G>T (p.Ala467Ser) c.1339G>T (p.Ala447Ser) n.3607-350C>A n.4043-350C>A c.1222G>T (p.Ala408Ser) c.1240G>T (p.Ala414Ser) c.997G>T (p.Ala333Ser) c.1030G>T (p.Ala344Ser) c.1048G>T (p.Ala350Ser) | |
| 2 | g.127428615C>A | CA348405665 | PROC | c.1055C>A (p.Ala352Asp) c.379C>A c.1157C>A (p.Ala386Asp) c.1238C>A (p.Ala413Asp) c.1220C>A (p.Ala407Asp) c.1118C>A (p.Ala373Asp) n.1332-351G>T c.1298C>A (p.Ala433Asp) c.1400C>A (p.Ala467Asp) c.1340C>A (p.Ala447Asp) n.3607-351G>T n.4043-351G>T c.1223C>A (p.Ala408Asp) c.1241C>A (p.Ala414Asp) c.998C>A (p.Ala333Asp) c.1031C>A (p.Ala344Asp) c.1049C>A (p.Ala350Asp) | |
| 2 | g.127428615C>G | CA348405666 | PROC | c.1055C>G (p.Ala352Gly) c.379C>G c.1157C>G (p.Ala386Gly) c.1238C>G (p.Ala413Gly) c.1220C>G (p.Ala407Gly) c.1118C>G (p.Ala373Gly) n.1332-351G>C c.1298C>G (p.Ala433Gly) c.1400C>G (p.Ala467Gly) c.1340C>G (p.Ala447Gly) n.3607-351G>C n.4043-351G>C c.1223C>G (p.Ala408Gly) c.1241C>G (p.Ala414Gly) c.998C>G (p.Ala333Gly) c.1031C>G (p.Ala344Gly) c.1049C>G (p.Ala350Gly) | |
| 2 | g.127428615C>T | CA348405667 | PROC | c.1055C>T (p.Ala352Val) c.379C>T c.1157C>T (p.Ala386Val) c.1238C>T (p.Ala413Val) c.1220C>T (p.Ala407Val) c.1118C>T (p.Ala373Val) n.1332-351G>A c.1298C>T (p.Ala433Val) c.1400C>T (p.Ala467Val) c.1340C>T (p.Ala447Val) n.3607-351G>A n.4043-351G>A c.1223C>T (p.Ala408Val) c.1241C>T (p.Ala414Val) c.998C>T (p.Ala333Val) c.1031C>T (p.Ala344Val) c.1049C>T (p.Ala350Val) | |
| 2 | g.127428616C>A | CA428872925 | PROC | c.1056C>A (p.Ala352=) c.380C>A c.1158C>A (p.Ala386=) c.1239C>A (p.Ala413=) c.1221C>A (p.Ala407=) c.1119C>A (p.Ala373=) n.1332-352G>T c.1299C>A (p.Ala433=) c.1401C>A (p.Ala467=) c.1341C>A (p.Ala447=) n.3607-352G>T n.4043-352G>T c.1224C>A (p.Ala408=) c.1242C>A (p.Ala414=) c.999C>A (p.Ala333=) c.1032C>A (p.Ala344=) c.1050C>A (p.Ala350=) | |
| 2 | g.127428616C>G | CA428872929 | PROC | c.1056C>G (p.Ala352=) c.380C>G c.1158C>G (p.Ala386=) c.1239C>G (p.Ala413=) c.1221C>G (p.Ala407=) c.1119C>G (p.Ala373=) n.1332-352G>C c.1299C>G (p.Ala433=) c.1401C>G (p.Ala467=) c.1341C>G (p.Ala447=) n.3607-352G>C n.4043-352G>C c.1224C>G (p.Ala408=) c.1242C>G (p.Ala414=) c.999C>G (p.Ala333=) c.1032C>G (p.Ala344=) c.1050C>G (p.Ala350=) | |
| 2 | g.127428616C>T | CA428872927 | PROC | c.1056C>T (p.Ala352=) c.380C>T c.1158C>T (p.Ala386=) c.1239C>T (p.Ala413=) c.1221C>T (p.Ala407=) c.1119C>T (p.Ala373=) n.1332-352G>A c.1299C>T (p.Ala433=) c.1401C>T (p.Ala467=) c.1341C>T (p.Ala447=) n.3607-352G>A n.4043-352G>A c.1224C>T (p.Ala408=) c.1242C>T (p.Ala414=) c.999C>T (p.Ala333=) c.1032C>T (p.Ala344=) c.1050C>T (p.Ala350=) | |
| 2 | g.127428617A>C | CA348405668 | PROC | c.1057A>C (p.Lys353Gln) c.381A>C c.1159A>C (p.Lys387Gln) c.1240A>C (p.Lys414Gln) c.1222A>C (p.Lys408Gln) c.1120A>C (p.Lys374Gln) n.1332-353T>G c.1300A>C (p.Lys434Gln) c.1402A>C (p.Lys468Gln) c.1342A>C (p.Lys448Gln) n.3607-353T>G n.4043-353T>G c.1225A>C (p.Lys409Gln) c.1243A>C (p.Lys415Gln) c.1000A>C (p.Lys334Gln) c.1033A>C (p.Lys345Gln) c.1051A>C (p.Lys351Gln) | |
| 2 | g.127428617A>G | CA348405669 | PROC | c.1057A>G (p.Lys353Glu) c.381A>G c.1159A>G (p.Lys387Glu) c.1240A>G (p.Lys414Glu) c.1222A>G (p.Lys408Glu) c.1120A>G (p.Lys374Glu) n.1332-353T>C c.1300A>G (p.Lys434Glu) c.1402A>G (p.Lys468Glu) c.1342A>G (p.Lys448Glu) n.3607-353T>C n.4043-353T>C c.1225A>G (p.Lys409Glu) c.1243A>G (p.Lys415Glu) c.1000A>G (p.Lys334Glu) c.1033A>G (p.Lys345Glu) c.1051A>G (p.Lys351Glu) | |
| 2 | g.127428617A>T | CA348405670 | PROC | c.1057A>T (p.Lys353Ter) c.381A>T c.1159A>T (p.Lys387Ter) c.1240A>T (p.Lys414Ter) c.1222A>T (p.Lys408Ter) c.1120A>T (p.Lys374Ter) n.1332-353T>A c.1300A>T (p.Lys434Ter) c.1402A>T (p.Lys468Ter) c.1342A>T (p.Lys448Ter) n.3607-353T>A n.4043-353T>A c.1225A>T (p.Lys409Ter) c.1243A>T (p.Lys415Ter) c.1000A>T (p.Lys334Ter) c.1033A>T (p.Lys345Ter) c.1051A>T (p.Lys351Ter) | |
| 2 | g.127428618A= | CA1286884554 | PROC | c.1058A= (p.Lys353=) c.382A= c.1160A= (p.Lys387=) c.1241A= (p.Lys414=) c.1223A= (p.Lys408=) c.1121A= (p.Lys374=) n.1332-354T= c.1301A= (p.Lys434=) c.1403A= (p.Lys468=) c.1343A= (p.Lys448=) n.3607-354T= n.4043-354T= c.1226A= (p.Lys409=) c.1244A= (p.Lys415=) c.1001A= (p.Lys334=) c.1034A= (p.Lys345=) c.1052A= (p.Lys351=) | |
| 2 | g.127428618A>C | CA348405671 | PROC | c.1058A>C (p.Lys353Thr) c.382A>C c.1160A>C (p.Lys387Thr) c.1241A>C (p.Lys414Thr) c.1223A>C (p.Lys408Thr) c.1121A>C (p.Lys374Thr) n.1332-354T>G c.1301A>C (p.Lys434Thr) c.1403A>C (p.Lys468Thr) c.1343A>C (p.Lys448Thr) n.3607-354T>G n.4043-354T>G c.1226A>C (p.Lys409Thr) c.1244A>C (p.Lys415Thr) c.1001A>C (p.Lys334Thr) c.1034A>C (p.Lys345Thr) c.1052A>C (p.Lys351Thr) | |
| 2 | g.127428618A>G | CA1859512 | PROC | c.1058A>G (p.Lys353Arg) c.382A>G c.1160A>G (p.Lys387Arg) c.1241A>G (p.Lys414Arg) c.1223A>G (p.Lys408Arg) c.1121A>G (p.Lys374Arg) n.1332-354T>C c.1301A>G (p.Lys434Arg) c.1403A>G (p.Lys468Arg) c.1343A>G (p.Lys448Arg) n.3607-354T>C n.4043-354T>C c.1226A>G (p.Lys409Arg) c.1244A>G (p.Lys415Arg) c.1001A>G (p.Lys334Arg) c.1034A>G (p.Lys345Arg) c.1052A>G (p.Lys351Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428618A>T | CA348405672 | PROC | c.1058A>T (p.Lys353Met) c.382A>T c.1160A>T (p.Lys387Met) c.1241A>T (p.Lys414Met) c.1223A>T (p.Lys408Met) c.1121A>T (p.Lys374Met) n.1332-354T>A c.1301A>T (p.Lys434Met) c.1403A>T (p.Lys468Met) c.1343A>T (p.Lys448Met) n.3607-354T>A n.4043-354T>A c.1226A>T (p.Lys409Met) c.1244A>T (p.Lys415Met) c.1001A>T (p.Lys334Met) c.1034A>T (p.Lys345Met) c.1052A>T (p.Lys351Met) | |
| 2 | g.127428619G>A | CA428872940 | PROC | c.1059G>A (p.Lys353=) c.383G>A c.1161G>A (p.Lys387=) c.1242G>A (p.Lys414=) c.1224G>A (p.Lys408=) c.1122G>A (p.Lys374=) n.1332-355C>T c.1302G>A (p.Lys434=) c.1404G>A (p.Lys468=) c.1344G>A (p.Lys448=) n.3607-355C>T n.4043-355C>T c.1227G>A (p.Lys409=) c.1245G>A (p.Lys415=) c.1002G>A (p.Lys334=) c.1035G>A (p.Lys345=) c.1053G>A (p.Lys351=) | gnomAD v4 |
| 2 | g.127428619G>C | CA348405674 | PROC | c.1059G>C (p.Lys353Asn) c.383G>C c.1161G>C (p.Lys387Asn) c.1242G>C (p.Lys414Asn) c.1224G>C (p.Lys408Asn) c.1122G>C (p.Lys374Asn) n.1332-355C>G c.1302G>C (p.Lys434Asn) c.1404G>C (p.Lys468Asn) c.1344G>C (p.Lys448Asn) n.3607-355C>G n.4043-355C>G c.1227G>C (p.Lys409Asn) c.1245G>C (p.Lys415Asn) c.1002G>C (p.Lys334Asn) c.1035G>C (p.Lys345Asn) c.1053G>C (p.Lys351Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.127428619G= | CA1286884555 | PROC | c.1059G= (p.Lys353=) c.383G= c.1161G= (p.Lys387=) c.1242G= (p.Lys414=) c.1224G= (p.Lys408=) c.1122G= (p.Lys374=) n.1332-355C= c.1302G= (p.Lys434=) c.1404G= (p.Lys468=) c.1344G= (p.Lys448=) n.3607-355C= n.4043-355C= c.1227G= (p.Lys409=) c.1245G= (p.Lys415=) c.1002G= (p.Lys334=) c.1035G= (p.Lys345=) c.1053G= (p.Lys351=) | |
| 2 | g.127428619G>T | CA348405675 | PROC | c.1059G>T (p.Lys353Asn) c.383G>T c.1161G>T (p.Lys387Asn) c.1242G>T (p.Lys414Asn) c.1224G>T (p.Lys408Asn) c.1122G>T (p.Lys374Asn) n.1332-355C>A c.1302G>T (p.Lys434Asn) c.1404G>T (p.Lys468Asn) c.1344G>T (p.Lys448Asn) n.3607-355C>A n.4043-355C>A c.1227G>T (p.Lys409Asn) c.1245G>T (p.Lys415Asn) c.1002G>T (p.Lys334Asn) c.1035G>T (p.Lys345Asn) c.1053G>T (p.Lys351Asn) | gnomAD v4 |