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 |
|---|---|---|---|---|---|
| 12 | g.21872637A= | CA2021314700 | ABCC9 | c.2186T= (p.Val729=) c.*1287T= (n.*1287T=) n.2531T= c.1067T= (p.Val356=) c.1322T= (p.Val441=) | |
| 12 | g.21872637A>C | CA384132383 | ABCC9 | c.2186T>G (p.Val729Gly) c.*1287T>G (n.*1287T>G) n.2531T>G c.1067T>G (p.Val356Gly) c.1322T>G (p.Val441Gly) | |
| 12 | g.21872637A>G | CA384132391 | ABCC9 | c.2186T>C (p.Val729Ala) c.*1287T>C (n.*1287T>C) n.2531T>C c.1067T>C (p.Val356Ala) c.1322T>C (p.Val441Ala) | gnomAD v4 |
| 12 | g.21872637A>T | CA384132387 | ABCC9 | c.2186T>A (p.Val729Asp) c.*1287T>A (n.*1287T>A) n.2531T>A c.1067T>A (p.Val356Asp) c.1322T>A (p.Val441Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21872638C>A | CA384132395 | ABCC9 | c.2185G>T (p.Val729Phe) c.*1286G>T (n.*1286G>T) n.2530G>T c.1066G>T (p.Val356Phe) c.1321G>T (p.Val441Phe) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21872638C= | CA2021314703 | ABCC9 | c.2185G= (p.Val729=) c.*1286G= (n.*1286G=) n.2530G= c.1066G= (p.Val356=) c.1321G= (p.Val441=) | |
| 12 | g.21872638C>G | CA384132397 | ABCC9 | c.2185G>C (p.Val729Leu) c.*1286G>C (n.*1286G>C) n.2530G>C c.1066G>C (p.Val356Leu) c.1321G>C (p.Val441Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21872638C>T | CA384132400 | ABCC9 | c.2185G>A (p.Val729Ile) c.*1286G>A (n.*1286G>A) n.2530G>A c.1066G>A (p.Val356Ile) c.1321G>A (p.Val441Ile) | |
| 12 | g.21872639T>A | CA384132406 | ABCC9 | c.2184A>T (p.Lys728Asn) c.*1285A>T (n.*1285A>T) n.2529A>T c.1065A>T (p.Lys355Asn) c.1320A>T (p.Lys440Asn) | |
| 12 | g.21872639T>C | CA478874818 | ABCC9 | c.2184A>G (p.Lys728=) c.*1285A>G (n.*1285A>G) n.2529A>G c.1065A>G (p.Lys355=) c.1320A>G (p.Lys440=) | ClinVar |
| 12 | g.21872639T>G | CA384132408 | ABCC9 | c.2184A>C (p.Lys728Asn) c.*1285A>C (n.*1285A>C) n.2529A>C c.1065A>C (p.Lys355Asn) c.1320A>C (p.Lys440Asn) | |
| 12 | g.21872640T>A | CA384132412 | ABCC9 | c.2183A>T (p.Lys728Ile) c.*1284A>T (n.*1284A>T) n.2528A>T c.1064A>T (p.Lys355Ile) c.1319A>T (p.Lys440Ile) | |
| 12 | g.21872640T>C | CA384132415 | ABCC9 | c.2183A>G (p.Lys728Arg) c.*1284A>G (n.*1284A>G) n.2528A>G c.1064A>G (p.Lys355Arg) c.1319A>G (p.Lys440Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21872640T>G | CA384132419 | ABCC9 | c.2183A>C (p.Lys728Thr) c.*1284A>C (n.*1284A>C) n.2528A>C c.1064A>C (p.Lys355Thr) c.1319A>C (p.Lys440Thr) | |
| 12 | g.21872640T= | CA2021314706 | ABCC9 | c.2183A= (p.Lys728=) c.*1284A= (n.*1284A=) n.2528A= c.1064A= (p.Lys355=) c.1319A= (p.Lys440=) | |
| 12 | g.21872641T>A | CA384132420 | ABCC9 | c.2182A>T (p.Lys728Ter) c.*1283A>T (n.*1283A>T) n.2527A>T c.1063A>T (p.Lys355Ter) c.1318A>T (p.Lys440Ter) | |
| 12 | g.21872641T>C | CA384132421 | ABCC9 | c.2182A>G (p.Lys728Glu) c.*1283A>G (n.*1283A>G) n.2527A>G c.1063A>G (p.Lys355Glu) c.1318A>G (p.Lys440Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21872641T>G | CA233611467 | ABCC9 | c.2182A>C (p.Lys728Gln) c.*1283A>C (n.*1283A>C) n.2527A>C c.1063A>C (p.Lys355Gln) c.1318A>C (p.Lys440Gln) | dbSNP |
| 12 | g.21872641T= | CA2021314707 | ABCC9 | c.2182A= (p.Lys728=) c.*1283A= (n.*1283A=) n.2527A= c.1063A= (p.Lys355=) c.1318A= (p.Lys440=) | |
| 12 | g.21872642T>A | CA478874819 | ABCC9 | c.2181A>T (p.Gly727=) c.*1282A>T (n.*1282A>T) n.2526A>T c.1062A>T (p.Gly354=) c.1317A>T (p.Gly439=) | |
| 12 | g.21872642T>C | CA478874820 | ABCC9 | c.2181A>G (p.Gly727=) c.*1282A>G (n.*1282A>G) n.2526A>G c.1062A>G (p.Gly354=) c.1317A>G (p.Gly439=) | |
| 12 | g.21872642T>G | CA478874821 | ABCC9 | c.2181A>C (p.Gly727=) c.*1282A>C (n.*1282A>C) n.2526A>C c.1062A>C (p.Gly354=) c.1317A>C (p.Gly439=) | |
| 12 | g.21872643C>A | CA384132422 | ABCC9 | c.2180G>T (p.Gly727Val) c.*1281G>T (n.*1281G>T) n.2525G>T c.1061G>T (p.Gly354Val) c.1316G>T (p.Gly439Val) | |
| 12 | g.21872643C>G | CA384132424 | ABCC9 | c.2180G>C (p.Gly727Ala) c.*1281G>C (n.*1281G>C) n.2525G>C c.1061G>C (p.Gly354Ala) c.1316G>C (p.Gly439Ala) | |
| 12 | g.21872643C>T | CA384132423 | ABCC9 | c.2180G>A (p.Gly727Glu) c.*1281G>A (n.*1281G>A) n.2525G>A c.1061G>A (p.Gly354Glu) c.1316G>A (p.Gly439Glu) | COSMIC COSMIC |
| 12 | g.21872644C>A | CA384132427 | ABCC9 | c.2179G>T (p.Gly727Ter) c.*1280G>T (n.*1280G>T) n.2524G>T c.1060G>T (p.Gly354Ter) c.1315G>T (p.Gly439Ter) | |
| 12 | g.21872644C= | CA2021314709 | ABCC9 | c.2179G= (p.Gly727=) c.*1280G= (n.*1280G=) n.2524G= c.1060G= (p.Gly354=) c.1315G= (p.Gly439=) | |
| 12 | g.21872644C>G | CA384132433 | ABCC9 | c.2179G>C (p.Gly727Arg) c.*1280G>C (n.*1280G>C) n.2524G>C c.1060G>C (p.Gly354Arg) c.1315G>C (p.Gly439Arg) | |
| 12 | g.21872644C>T | CA384132431 | ABCC9 | c.2179G>A (p.Gly727Arg) c.*1280G>A (n.*1280G>A) n.2524G>A c.1060G>A (p.Gly354Arg) c.1315G>A (p.Gly439Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.21872645T>A | CA384132436 | ABCC9 | c.2178A>T (p.Glu726Asp) c.*1279A>T (n.*1279A>T) n.2523A>T c.1059A>T (p.Glu353Asp) c.1314A>T (p.Glu438Asp) | |
| 12 | g.21872645T>C | CA478874822 | ABCC9 | c.2178A>G (p.Glu726=) c.*1279A>G (n.*1279A>G) n.2523A>G c.1059A>G (p.Glu353=) c.1314A>G (p.Glu438=) | |
| 12 | g.21872645T>G | CA384132440 | ABCC9 | c.2178A>C (p.Glu726Asp) c.*1279A>C (n.*1279A>C) n.2523A>C c.1059A>C (p.Glu353Asp) c.1314A>C (p.Glu438Asp) | |
| 12 | g.21872646T>A | CA384132442 | ABCC9 | c.2177A>T (p.Glu726Val) c.*1278A>T (n.*1278A>T) n.2522A>T c.1058A>T (p.Glu353Val) c.1313A>T (p.Glu438Val) | |
| 12 | g.21872646T>C | CA384132446 | ABCC9 | c.2177A>G (p.Glu726Gly) c.*1278A>G (n.*1278A>G) n.2522A>G c.1058A>G (p.Glu353Gly) c.1313A>G (p.Glu438Gly) | |
| 12 | g.21872646T>G | CA384132448 | ABCC9 | c.2177A>C (p.Glu726Ala) c.*1278A>C (n.*1278A>C) n.2522A>C c.1058A>C (p.Glu353Ala) c.1313A>C (p.Glu438Ala) | |
| 12 | g.21872647C>A | CA384132451 | ABCC9 | c.2176G>T (p.Glu726Ter) c.*1277G>T (n.*1277G>T) n.2521G>T c.1057G>T (p.Glu353Ter) c.1312G>T (p.Glu438Ter) | COSMIC COSMIC |
| 12 | g.21872647C>G | CA384132456 | ABCC9 | c.2176G>C (p.Glu726Gln) c.*1277G>C (n.*1277G>C) n.2521G>C c.1057G>C (p.Glu353Gln) c.1312G>C (p.Glu438Gln) | |
| 12 | g.21872647C>T | CA384132458 | ABCC9 | c.2176G>A (p.Glu726Lys) c.*1277G>A (n.*1277G>A) n.2521G>A c.1057G>A (p.Glu353Lys) c.1312G>A (p.Glu438Lys) | |
| 12 | g.21872648C>A | CA384132462 | ABCC9 | c.2175G>T (p.Leu725Phe) c.*1276G>T (n.*1276G>T) n.2520G>T c.1056G>T (p.Leu352Phe) c.1311G>T (p.Leu437Phe) | gnomAD v4 |
| 12 | g.21872648C>G | CA384132470 | ABCC9 | c.2175G>C (p.Leu725Phe) c.*1276G>C (n.*1276G>C) n.2520G>C c.1056G>C (p.Leu352Phe) c.1311G>C (p.Leu437Phe) | |
| 12 | g.21872648C>T | CA478874823 | ABCC9 | c.2175G>A (p.Leu725=) c.*1276G>A (n.*1276G>A) n.2520G>A c.1056G>A (p.Leu352=) c.1311G>A (p.Leu437=) | |
| 12 | g.21872649A>C | CA384132474 | ABCC9 | c.2174T>G (p.Leu725Trp) c.*1275T>G (n.*1275T>G) n.2519T>G c.1055T>G (p.Leu352Trp) c.1310T>G (p.Leu437Trp) | |
| 12 | g.21872649A>G | CA384132477 | ABCC9 | c.2174T>C (p.Leu725Ser) c.*1275T>C (n.*1275T>C) n.2519T>C c.1055T>C (p.Leu352Ser) c.1310T>C (p.Leu437Ser) | |
| 12 | g.21872649A>T | CA384132481 | ABCC9 | c.2174T>A (p.Leu725Ter) c.*1275T>A (n.*1275T>A) n.2519T>A c.1055T>A (p.Leu352Ter) c.1310T>A (p.Leu437Ter) | |
| 12 | g.21872650A>C | CA384132483 | ABCC9 | c.2173T>G (p.Leu725Val) c.*1274T>G (n.*1274T>G) n.2518T>G c.1054T>G (p.Leu352Val) c.1309T>G (p.Leu437Val) | |
| 12 | g.21872650A>G | CA478874824 | ABCC9 | c.2173T>C (p.Leu725=) c.*1274T>C (n.*1274T>C) n.2518T>C c.1054T>C (p.Leu352=) c.1309T>C (p.Leu437=) | |
| 12 | g.21872650A>T | CA384132486 | ABCC9 | c.2173T>A (p.Leu725Met) c.*1274T>A (n.*1274T>A) n.2518T>A c.1054T>A (p.Leu352Met) c.1309T>A (p.Leu437Met) | |
| 12 | g.21872651T>A | CA478874825 | ABCC9 | c.2172A>T (p.Thr724=) c.*1273A>T (n.*1273A>T) n.2517A>T c.1053A>T (p.Thr351=) c.1308A>T (p.Thr436=) | |
| 12 | g.21872651T>C | CA478874827 | ABCC9 | c.2172A>G (p.Thr724=) c.*1273A>G (n.*1273A>G) n.2517A>G c.1053A>G (p.Thr351=) c.1308A>G (p.Thr436=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872651T>G | CA478874826 | ABCC9 | c.2172A>C (p.Thr724=) c.*1273A>C (n.*1273A>C) n.2517A>C c.1053A>C (p.Thr351=) c.1308A>C (p.Thr436=) | |
| 12 | g.21872651T= | CA2021314712 | ABCC9 | c.2172A= (p.Thr724=) c.*1273A= (n.*1273A=) n.2517A= c.1053A= (p.Thr351=) c.1308A= (p.Thr436=) | |
| 12 | g.21872652G>A | CA6481480 | ABCC9 | c.2171C>T (p.Thr724Ile) c.*1272C>T (n.*1272C>T) n.2516C>T c.1052C>T (p.Thr351Ile) c.1307C>T (p.Thr436Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872652G>C | CA384132493 | ABCC9 | c.2171C>G (p.Thr724Arg) c.*1272C>G (n.*1272C>G) n.2516C>G c.1052C>G (p.Thr351Arg) c.1307C>G (p.Thr436Arg) | |
| 12 | g.21872652G= | CA2021314713 | ABCC9 | c.2171C= (p.Thr724=) c.*1272C= (n.*1272C=) n.2516C= c.1052C= (p.Thr351=) c.1307C= (p.Thr436=) | |
| 12 | g.21872652G>T | CA384132496 | ABCC9 | c.2171C>A (p.Thr724Lys) c.*1272C>A (n.*1272C>A) n.2516C>A c.1052C>A (p.Thr351Lys) c.1307C>A (p.Thr436Lys) | |
| 12 | g.21872653T>A | CA384132499 | ABCC9 | c.2170A>T (p.Thr724Ser) c.*1271A>T (n.*1271A>T) n.2515A>T c.1051A>T (p.Thr351Ser) c.1306A>T (p.Thr436Ser) | ClinVar |
| 12 | g.21872653T>C | CA384132503 | ABCC9 | c.2170A>G (p.Thr724Ala) c.*1271A>G (n.*1271A>G) n.2515A>G c.1051A>G (p.Thr351Ala) c.1306A>G (p.Thr436Ala) | |
| 12 | g.21872653T>G | CA384132506 | ABCC9 | c.2170A>C (p.Thr724Pro) c.*1271A>C (n.*1271A>C) n.2515A>C c.1051A>C (p.Thr351Pro) c.1306A>C (p.Thr436Pro) | |
| 12 | g.21872654C>A | CA384132508 | ABCC9 | c.2169G>T (p.Gln723His) c.*1270G>T (n.*1270G>T) n.2514G>T c.1050G>T (p.Gln350His) c.1305G>T (p.Gln435His) | |
| 12 | g.21872654C>G | CA384132510 | ABCC9 | c.2169G>C (p.Gln723His) c.*1270G>C (n.*1270G>C) n.2514G>C c.1050G>C (p.Gln350His) c.1305G>C (p.Gln435His) | |
| 12 | g.21872654C>T | CA478874828 | ABCC9 | c.2169G>A (p.Gln723=) c.*1270G>A (n.*1270G>A) n.2514G>A c.1050G>A (p.Gln350=) c.1305G>A (p.Gln435=) | |
| 12 | g.21872655T>A | CA384132513 | ABCC9 | c.2168A>T (p.Gln723Leu) c.*1269A>T (n.*1269A>T) n.2513A>T c.1049A>T (p.Gln350Leu) c.1304A>T (p.Gln435Leu) | COSMIC COSMIC |
| 12 | g.21872655T>C | CA384132514 | ABCC9 | c.2168A>G (p.Gln723Arg) c.*1269A>G (n.*1269A>G) n.2513A>G c.1049A>G (p.Gln350Arg) c.1304A>G (p.Gln435Arg) | |
| 12 | g.21872655T>G | CA384132516 | ABCC9 | c.2168A>C (p.Gln723Pro) c.*1269A>C (n.*1269A>C) n.2513A>C c.1049A>C (p.Gln350Pro) c.1304A>C (p.Gln435Pro) | |
| 12 | g.21872656G>A | CA384132528 | ABCC9 | c.2167C>T (p.Gln723Ter) c.*1268C>T (n.*1268C>T) n.2512C>T c.1048C>T (p.Gln350Ter) c.1303C>T (p.Gln435Ter) | |
| 12 | g.21872656G>C | CA384132524 | ABCC9 | c.2167C>G (p.Gln723Glu) c.*1268C>G (n.*1268C>G) n.2512C>G c.1048C>G (p.Gln350Glu) c.1303C>G (p.Gln435Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872656G= | CA2021314716 | ABCC9 | c.2167C= (p.Gln723=) c.*1268C= (n.*1268C=) n.2512C= c.1048C= (p.Gln350=) c.1303C= (p.Gln435=) | |
| 12 | g.21872656G>T | CA384132520 | ABCC9 | c.2167C>A (p.Gln723Lys) c.*1268C>A (n.*1268C>A) n.2512C>A c.1048C>A (p.Gln350Lys) c.1303C>A (p.Gln435Lys) | dbSNP gnomAD v2 COSMIC COSMIC |
| 12 | g.21872657C>A | CA384132531 | ABCC9 | c.2166G>T (p.Met722Ile) c.*1267G>T (n.*1267G>T) n.2511G>T c.1047G>T (p.Met349Ile) c.1302G>T (p.Met434Ile) | |
| 12 | g.21872657C>G | CA384132535 | ABCC9 | c.2166G>C (p.Met722Ile) c.*1267G>C (n.*1267G>C) n.2511G>C c.1047G>C (p.Met349Ile) c.1302G>C (p.Met434Ile) | |
| 12 | g.21872657C>T | CA384132538 | ABCC9 | c.2166G>A (p.Met722Ile) c.*1267G>A (n.*1267G>A) n.2511G>A c.1047G>A (p.Met349Ile) c.1302G>A (p.Met434Ile) | |
| 12 | g.21872658A>C | CA384132542 | ABCC9 | c.2165T>G (p.Met722Arg) c.*1266T>G (n.*1266T>G) n.2510T>G c.1046T>G (p.Met349Arg) c.1301T>G (p.Met434Arg) | |
| 12 | g.21872658A>G | CA384132545 | ABCC9 | c.2165T>C (p.Met722Thr) c.*1266T>C (n.*1266T>C) n.2510T>C c.1046T>C (p.Met349Thr) c.1301T>C (p.Met434Thr) | |
| 12 | g.21872658A>T | CA384132548 | ABCC9 | c.2165T>A (p.Met722Lys) c.*1266T>A (n.*1266T>A) n.2510T>A c.1046T>A (p.Met349Lys) c.1301T>A (p.Met434Lys) | |
| 12 | g.21872659T>A | CA384132552 | ABCC9 | c.2164A>T (p.Met722Leu) c.*1265A>T (n.*1265A>T) n.2509A>T c.1045A>T (p.Met349Leu) c.1300A>T (p.Met434Leu) | |
| 12 | g.21872659T>C | CA384132550 | ABCC9 | c.2164A>G (p.Met722Val) c.*1265A>G (n.*1265A>G) n.2509A>G c.1045A>G (p.Met349Val) c.1300A>G (p.Met434Val) | ClinVar gnomAD v4 |
| 12 | g.21872659T>G | CA384132551 | ABCC9 | c.2164A>C (p.Met722Leu) c.*1265A>C (n.*1265A>C) n.2509A>C c.1045A>C (p.Met349Leu) c.1300A>C (p.Met434Leu) | |
| 12 | g.21872660C>A | CA384132553 | ABCC9 | c.2163G>T (p.Glu721Asp) c.*1264G>T (n.*1264G>T) n.2508G>T c.1044G>T (p.Glu348Asp) c.1299G>T (p.Glu433Asp) | |
| 12 | g.21872660C= | CA2021314720 | ABCC9 | c.2163G= (p.Glu721=) c.*1264G= (n.*1264G=) n.2508G= c.1044G= (p.Glu348=) c.1299G= (p.Glu433=) | |
| 12 | g.21872660C>G | CA384132555 | ABCC9 | c.2163G>C (p.Glu721Asp) c.*1264G>C (n.*1264G>C) n.2508G>C c.1044G>C (p.Glu348Asp) c.1299G>C (p.Glu433Asp) | COSMIC |
| 12 | g.21872660C>T | CA478874829 | ABCC9 | c.2163G>A (p.Glu721=) c.*1264G>A (n.*1264G>A) n.2508G>A c.1044G>A (p.Glu348=) c.1299G>A (p.Glu433=) | dbSNP gnomAD v4 |
| 12 | g.21872661T>A | CA384132560 | ABCC9 | c.2162A>T (p.Glu721Val) c.*1263A>T (n.*1263A>T) n.2507A>T c.1043A>T (p.Glu348Val) c.1298A>T (p.Glu433Val) | |
| 12 | g.21872661T>C | CA384132563 | ABCC9 | c.2162A>G (p.Glu721Gly) c.*1263A>G (n.*1263A>G) n.2507A>G c.1043A>G (p.Glu348Gly) c.1298A>G (p.Glu433Gly) | |
| 12 | g.21872661T>G | CA384132565 | ABCC9 | c.2162A>C (p.Glu721Ala) c.*1263A>C (n.*1263A>C) n.2507A>C c.1043A>C (p.Glu348Ala) c.1298A>C (p.Glu433Ala) | gnomAD v4 |
| 12 | g.21872662C>A | CA384132566 | ABCC9 | c.2161G>T (p.Glu721Ter) c.*1262G>T (n.*1262G>T) n.2506G>T c.1042G>T (p.Glu348Ter) c.1297G>T (p.Glu433Ter) | |
| 12 | g.21872662C>G | CA384132575 | ABCC9 | c.2161G>C (p.Glu721Gln) c.*1262G>C (n.*1262G>C) n.2506G>C c.1042G>C (p.Glu348Gln) c.1297G>C (p.Glu433Gln) | |
| 12 | g.21872662C>T | CA384132569 | ABCC9 | c.2161G>A (p.Glu721Lys) c.*1262G>A (n.*1262G>A) n.2506G>A c.1042G>A (p.Glu348Lys) c.1297G>A (p.Glu433Lys) | ClinVar |
| 12 | g.21872663A= | CA2021314722 | ABCC9 | c.2160T= (p.Gly720=) c.*1261T= (n.*1261T=) n.2505T= c.1041T= (p.Gly347=) c.1296T= (p.Gly432=) | |
| 12 | g.21872663A>C | CA478874830 | ABCC9 | c.2160T>G (p.Gly720=) c.*1261T>G (n.*1261T>G) n.2505T>G c.1041T>G (p.Gly347=) c.1296T>G (p.Gly432=) | |
| 12 | g.21872663A>G | CA478874831 | ABCC9 | c.2160T>C (p.Gly720=) c.*1261T>C (n.*1261T>C) n.2505T>C c.1041T>C (p.Gly347=) c.1296T>C (p.Gly432=) | dbSNP |
| 12 | g.21872663A>T | CA478874832 | ABCC9 | c.2160T>A (p.Gly720=) c.*1261T>A (n.*1261T>A) n.2505T>A c.1041T>A (p.Gly347=) c.1296T>A (p.Gly432=) | |
| 12 | g.21872664C>A | CA384132577 | ABCC9 | c.2159G>T (p.Gly720Val) c.*1260G>T (n.*1260G>T) n.2504G>T c.1040G>T (p.Gly347Val) c.1295G>T (p.Gly432Val) | |
| 12 | g.21872664C>G | CA384132578 | ABCC9 | c.2159G>C (p.Gly720Ala) c.*1260G>C (n.*1260G>C) n.2504G>C c.1040G>C (p.Gly347Ala) c.1295G>C (p.Gly432Ala) | |
| 12 | g.21872664C>T | CA384132579 | ABCC9 | c.2159G>A (p.Gly720Asp) c.*1260G>A (n.*1260G>A) n.2504G>A c.1040G>A (p.Gly347Asp) c.1295G>A (p.Gly432Asp) | |
| 12 | g.21872665C>A | CA384132580 | ABCC9 | c.2158G>T (p.Gly720Cys) c.*1259G>T (n.*1259G>T) n.2503G>T c.1039G>T (p.Gly347Cys) c.1294G>T (p.Gly432Cys) | |
| 12 | g.21872665C= | CA2021314727 | ABCC9 | c.2158G= (p.Gly720=) c.*1259G= (n.*1259G=) n.2503G= c.1039G= (p.Gly347=) c.1294G= (p.Gly432=) | |
| 12 | g.21872665C>G | CA384132581 | ABCC9 | c.2158G>C (p.Gly720Arg) c.*1259G>C (n.*1259G>C) n.2503G>C c.1039G>C (p.Gly347Arg) c.1294G>C (p.Gly432Arg) | |
| 12 | g.21872665C>T | CA6481481 | ABCC9 | c.2158G>A (p.Gly720Ser) c.*1259G>A (n.*1259G>A) n.2503G>A c.1039G>A (p.Gly347Ser) c.1294G>A (p.Gly432Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21872666G>A | CA6481482 | ABCC9 | c.2157C>T (p.Leu719=) c.*1258C>T (n.*1258C>T) n.2502C>T c.1038C>T (p.Leu346=) c.1293C>T (p.Leu431=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21872666G>C | CA478874833 | ABCC9 | c.2157C>G (p.Leu719=) c.*1258C>G (n.*1258C>G) n.2502C>G c.1038C>G (p.Leu346=) c.1293C>G (p.Leu431=) | |
| 12 | g.21872666G= | CA2021314732 | ABCC9 | c.2157C= (p.Leu719=) c.*1258C= (n.*1258C=) n.2502C= c.1038C= (p.Leu346=) c.1293C= (p.Leu431=) | |
| 12 | g.21872666G>T | CA478874834 | ABCC9 | c.2157C>A (p.Leu719=) c.*1258C>A (n.*1258C>A) n.2502C>A c.1038C>A (p.Leu346=) c.1293C>A (p.Leu431=) | |
| 12 | g.21872667A>C | CA384132584 | ABCC9 | c.2156T>G (p.Leu719Arg) c.*1257T>G (n.*1257T>G) n.2501T>G c.1037T>G (p.Leu346Arg) c.1292T>G (p.Leu431Arg) | |
| 12 | g.21872667A>G | CA384132591 | ABCC9 | c.2156T>C (p.Leu719Pro) c.*1257T>C (n.*1257T>C) n.2501T>C c.1037T>C (p.Leu346Pro) c.1292T>C (p.Leu431Pro) | |
| 12 | g.21872667A>T | CA384132595 | ABCC9 | c.2156T>A (p.Leu719His) c.*1257T>A (n.*1257T>A) n.2501T>A c.1037T>A (p.Leu346His) c.1292T>A (p.Leu431His) | |
| 12 | g.21872668G>A | CA6481483 | ABCC9 | c.2155C>T (p.Leu719Phe) c.*1256C>T (n.*1256C>T) n.2500C>T c.1036C>T (p.Leu346Phe) c.1291C>T (p.Leu431Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872668G>C | CA384132602 | ABCC9 | c.2155C>G (p.Leu719Val) c.*1256C>G (n.*1256C>G) n.2500C>G c.1036C>G (p.Leu346Val) c.1291C>G (p.Leu431Val) | |
| 12 | g.21872668G= | CA2021314736 | ABCC9 | c.2155C= (p.Leu719=) c.*1256C= (n.*1256C=) n.2500C= c.1036C= (p.Leu346=) c.1291C= (p.Leu431=) | |
| 12 | g.21872668G>T | CA384132599 | ABCC9 | c.2155C>A (p.Leu719Ile) c.*1256C>A (n.*1256C>A) n.2500C>A c.1036C>A (p.Leu346Ile) c.1291C>A (p.Leu431Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21872669del | CA2617933303 | ABCC9 | c.2155del (p.Leu719SerfsTer16) c.*1256del (n.*1256del) n.2500del c.1036del (p.Leu346SerfsTer16) c.2155del (p.Leu719SerfsTer?) c.1291del (p.Leu431SerfsTer16) | gnomAD v4 |
| 12 | g.21872669G>A | CA136261 | ABCC9 | c.2154C>T (p.Ile718=) c.*1255C>T (n.*1255C>T) n.2499C>T c.1035C>T (p.Ile345=) c.1290C>T (p.Ile430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872669G>C | CA384132612 | ABCC9 | c.2154C>G (p.Ile718Met) c.*1255C>G (n.*1255C>G) n.2499C>G c.1035C>G (p.Ile345Met) c.1290C>G (p.Ile430Met) | |
| 12 | g.21872669G= | CA2021314740 | ABCC9 | c.2154C= (p.Ile718=) c.*1255C= (n.*1255C=) n.2499C= c.1035C= (p.Ile345=) c.1290C= (p.Ile430=) | |
| 12 | g.21872669G>T | CA478874835 | ABCC9 | c.2154C>A (p.Ile718=) c.*1255C>A (n.*1255C>A) n.2499C>A c.1035C>A (p.Ile345=) c.1290C>A (p.Ile430=) | |
| 12 | g.21872670A= | CA2021314747 | ABCC9 | c.2153T= (p.Ile718=) c.*1254T= (n.*1254T=) n.2498T= c.1034T= (p.Ile345=) c.1289T= (p.Ile430=) | |
| 12 | g.21872670A>C | CA384132615 | ABCC9 | c.2153T>G (p.Ile718Ser) c.*1254T>G (n.*1254T>G) n.2498T>G c.1034T>G (p.Ile345Ser) c.1289T>G (p.Ile430Ser) | |
| 12 | g.21872670A>G | CA384132629 | ABCC9 | c.2153T>C (p.Ile718Thr) c.*1254T>C (n.*1254T>C) n.2498T>C c.1034T>C (p.Ile345Thr) c.1289T>C (p.Ile430Thr) | gnomAD v4 |
| 12 | g.21872670A>T | CA384132622 | ABCC9 | c.2153T>A (p.Ile718Asn) c.*1254T>A (n.*1254T>A) n.2498T>A c.1034T>A (p.Ile345Asn) c.1289T>A (p.Ile430Asn) | dbSNP |
| 12 | g.21872671T>A | CA384132633 | ABCC9 | c.2152A>T (p.Ile718Phe) c.*1253A>T (n.*1253A>T) n.2497A>T c.1033A>T (p.Ile345Phe) c.1288A>T (p.Ile430Phe) | |
| 12 | g.21872671T>C | CA384132637 | ABCC9 | c.2152A>G (p.Ile718Val) c.*1253A>G (n.*1253A>G) n.2497A>G c.1033A>G (p.Ile345Val) c.1288A>G (p.Ile430Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21872671T>G | CA384132635 | ABCC9 | c.2152A>C (p.Ile718Leu) c.*1253A>C (n.*1253A>C) n.2497A>C c.1033A>C (p.Ile345Leu) c.1288A>C (p.Ile430Leu) | |
| 12 | g.21872671T= | CA2021314751 | ABCC9 | c.2152A= (p.Ile718=) c.*1253A= (n.*1253A=) n.2497A= c.1033A= (p.Ile345=) c.1288A= (p.Ile430=) | |
| 12 | g.21872672G>A | CA478874837 | ABCC9 | c.2151C>T (p.Ala717=) c.*1252C>T (n.*1252C>T) n.2496C>T c.1032C>T (p.Ala344=) c.1287C>T (p.Ala429=) | ClinVar |
| 12 | g.21872672G>C | CA478874839 | ABCC9 | c.2151C>G (p.Ala717=) c.*1252C>G (n.*1252C>G) n.2496C>G c.1032C>G (p.Ala344=) c.1287C>G (p.Ala429=) | |
| 12 | g.21872672G>T | CA478874840 | ABCC9 | c.2151C>A (p.Ala717=) c.*1252C>A (n.*1252C>A) n.2496C>A c.1032C>A (p.Ala344=) c.1287C>A (p.Ala429=) | |
| 12 | g.21872673G>A | CA384132640 | ABCC9 | c.2150C>T (p.Ala717Val) c.*1251C>T (n.*1251C>T) n.2495C>T c.1031C>T (p.Ala344Val) c.1286C>T (p.Ala429Val) | dbSNP |
| 12 | g.21872673G>C | CA384132646 | ABCC9 | c.2150C>G (p.Ala717Gly) c.*1251C>G (n.*1251C>G) n.2495C>G c.1031C>G (p.Ala344Gly) c.1286C>G (p.Ala429Gly) | |
| 12 | g.21872673G= | CA2021314755 | ABCC9 | c.2150C= (p.Ala717=) c.*1251C= (n.*1251C=) n.2495C= c.1031C= (p.Ala344=) c.1286C= (p.Ala429=) | |
| 12 | g.21872673G>T | CA384132642 | ABCC9 | c.2150C>A (p.Ala717Asp) c.*1251C>A (n.*1251C>A) n.2495C>A c.1031C>A (p.Ala344Asp) c.1286C>A (p.Ala429Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872674C>A | CA384132649 | ABCC9 | c.2149G>T (p.Ala717Ser) c.*1250G>T (n.*1250G>T) n.2494G>T c.1030G>T (p.Ala344Ser) c.1285G>T (p.Ala429Ser) | |
| 12 | g.21872674C= | CA2021314760 | ABCC9 | c.2149G= (p.Ala717=) c.*1250G= (n.*1250G=) n.2494G= c.1030G= (p.Ala344=) c.1285G= (p.Ala429=) | |
| 12 | g.21872674C>G | CA384132654 | ABCC9 | c.2149G>C (p.Ala717Pro) c.*1250G>C (n.*1250G>C) n.2494G>C c.1030G>C (p.Ala344Pro) c.1285G>C (p.Ala429Pro) | |
| 12 | g.21872674C>T | CA136256 | ABCC9 | c.2149G>A (p.Ala717Thr) c.*1250G>A (n.*1250G>A) n.2494G>A c.1030G>A (p.Ala344Thr) c.1285G>A (p.Ala429Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872675A= | CA2021314765 | ABCC9 | c.2148T= (p.Leu716=) c.*1249T= (n.*1249T=) n.2493T= c.1029T= (p.Leu343=) c.1284T= (p.Leu428=) | |
| 12 | g.21872675A>C | CA478874841 | ABCC9 | c.2148T>G (p.Leu716=) c.*1249T>G (n.*1249T>G) n.2493T>G c.1029T>G (p.Leu343=) c.1284T>G (p.Leu428=) | |
| 12 | g.21872675A>G | CA478874842 | ABCC9 | c.2148T>C (p.Leu716=) c.*1249T>C (n.*1249T>C) n.2493T>C c.1029T>C (p.Leu343=) c.1284T>C (p.Leu428=) | |
| 12 | g.21872675A>T | CA478874843 | ABCC9 | c.2148T>A (p.Leu716=) c.*1249T>A (n.*1249T>A) n.2493T>A c.1029T>A (p.Leu343=) c.1284T>A (p.Leu428=) | |
| 12 | g.21872676A>C | CA384132658 | ABCC9 | c.2147T>G (p.Leu716Arg) c.*1248T>G (n.*1248T>G) n.2492T>G c.1028T>G (p.Leu343Arg) c.1283T>G (p.Leu428Arg) | |
| 12 | g.21872676A>G | CA384132660 | ABCC9 | c.2147T>C (p.Leu716Pro) c.*1248T>C (n.*1248T>C) n.2492T>C c.1028T>C (p.Leu343Pro) c.1283T>C (p.Leu428Pro) | |
| 12 | g.21872676A>T | CA384132665 | ABCC9 | c.2147T>A (p.Leu716His) c.*1248T>A (n.*1248T>A) n.2492T>A c.1028T>A (p.Leu343His) c.1283T>A (p.Leu428His) | |
| 12 | g.21872678_21872680del | CA2617933304 | ABCC9 | c.2145_2147del (p.Leu716del) c.*1246_*1248del (n.*1246_*1248del) n.2490_2492del c.1026_1028del (p.Leu343del) c.1281_1283del (p.Leu428del) | gnomAD v4 |
| 12 | g.21872677G>A | CA384132676 | ABCC9 | c.2146C>T (p.Leu716Phe) c.*1247C>T (n.*1247C>T) n.2491C>T c.1027C>T (p.Leu343Phe) c.1282C>T (p.Leu428Phe) | gnomAD v4 |
| 12 | g.21872677G>C | CA384132677 | ABCC9 | c.2146C>G (p.Leu716Val) c.*1247C>G (n.*1247C>G) n.2491C>G c.1027C>G (p.Leu343Val) c.1282C>G (p.Leu428Val) | |
| 12 | g.21872677G>T | CA384132682 | ABCC9 | c.2146C>A (p.Leu716Ile) c.*1247C>A (n.*1247C>A) n.2491C>A c.1027C>A (p.Leu343Ile) c.1282C>A (p.Leu428Ile) | |
| 12 | g.21872678G>A | CA478874846 | ABCC9 | c.2145C>T (p.Leu715=) c.*1246C>T (n.*1246C>T) n.2490C>T c.1026C>T (p.Leu342=) c.1281C>T (p.Leu427=) | COSMIC COSMIC |
| 12 | g.21872678G>C | CA478874847 | ABCC9 | c.2145C>G (p.Leu715=) c.*1246C>G (n.*1246C>G) n.2490C>G c.1026C>G (p.Leu342=) c.1281C>G (p.Leu427=) | |
| 12 | g.21872678G>T | CA478874848 | ABCC9 | c.2145C>A (p.Leu715=) c.*1246C>A (n.*1246C>A) n.2490C>A c.1026C>A (p.Leu342=) c.1281C>A (p.Leu427=) | |
| 12 | g.21872679A>C | CA384132687 | ABCC9 | c.2144T>G (p.Leu715Arg) c.*1245T>G (n.*1245T>G) n.2489T>G c.1025T>G (p.Leu342Arg) c.1280T>G (p.Leu427Arg) | |
| 12 | g.21872679A>G | CA384132690 | ABCC9 | c.2144T>C (p.Leu715Pro) c.*1245T>C (n.*1245T>C) n.2489T>C c.1025T>C (p.Leu342Pro) c.1280T>C (p.Leu427Pro) | COSMIC COSMIC |
| 12 | g.21872679A>T | CA384132693 | ABCC9 | c.2144T>A (p.Leu715His) c.*1245T>A (n.*1245T>A) n.2489T>A c.1025T>A (p.Leu342His) c.1280T>A (p.Leu427His) | |
| 12 | g.21872680G>A | CA384132696 | ABCC9 | c.2143C>T (p.Leu715Phe) c.*1244C>T (n.*1244C>T) n.2488C>T c.1024C>T (p.Leu342Phe) c.1279C>T (p.Leu427Phe) | |
| 12 | g.21872680G>C | CA384132698 | ABCC9 | c.2143C>G (p.Leu715Val) c.*1244C>G (n.*1244C>G) n.2488C>G c.1024C>G (p.Leu342Val) c.1279C>G (p.Leu427Val) | |
| 12 | g.21872680G>T | CA384132703 | ABCC9 | c.2143C>A (p.Leu715Ile) c.*1244C>A (n.*1244C>A) n.2488C>A c.1024C>A (p.Leu342Ile) c.1279C>A (p.Leu427Ile) | |
| 12 | g.21872681A>C | CA478874853 | ABCC9 | c.2142T>G (p.Leu714=) c.*1243T>G (n.*1243T>G) n.2487T>G c.1023T>G (p.Leu341=) c.1278T>G (p.Leu426=) | |
| 12 | g.21872681A>G | CA478874854 | ABCC9 | c.2142T>C (p.Leu714=) c.*1243T>C (n.*1243T>C) n.2487T>C c.1023T>C (p.Leu341=) c.1278T>C (p.Leu426=) | gnomAD v4 |
| 12 | g.21872681A>T | CA478874851 | ABCC9 | c.2142T>A (p.Leu714=) c.*1243T>A (n.*1243T>A) n.2487T>A c.1023T>A (p.Leu341=) c.1278T>A (p.Leu426=) | |
| 12 | g.21872682A>C | CA384132707 | ABCC9 | c.2141T>G (p.Leu714Arg) c.*1242T>G (n.*1242T>G) n.2486T>G c.1022T>G (p.Leu341Arg) c.1277T>G (p.Leu426Arg) | |
| 12 | g.21872682A>G | CA384132711 | ABCC9 | c.2141T>C (p.Leu714Pro) c.*1242T>C (n.*1242T>C) n.2486T>C c.1022T>C (p.Leu341Pro) c.1277T>C (p.Leu426Pro) | |
| 12 | g.21872682A>T | CA384132709 | ABCC9 | c.2141T>A (p.Leu714His) c.*1242T>A (n.*1242T>A) n.2486T>A c.1022T>A (p.Leu341His) c.1277T>A (p.Leu426His) | |
| 12 | g.21872683G>A | CA384132712 | ABCC9 | c.2140C>T (p.Leu714Phe) c.*1241C>T (n.*1241C>T) n.2485C>T c.1021C>T (p.Leu341Phe) c.1276C>T (p.Leu426Phe) | dbSNP gnomAD v4 |
| 12 | g.21872683G>C | CA384132713 | ABCC9 | c.2140C>G (p.Leu714Val) c.*1241C>G (n.*1241C>G) n.2485C>G c.1021C>G (p.Leu341Val) c.1276C>G (p.Leu426Val) | |
| 12 | g.21872683G>T | CA384132714 | ABCC9 | c.2140C>A (p.Leu714Ile) c.*1241C>A (n.*1241C>A) n.2485C>A c.1021C>A (p.Leu341Ile) c.1276C>A (p.Leu426Ile) | ClinVar |
| 12 | g.21872684A= | CA2021314769 | ABCC9 | c.2139T= (p.Ser713=) c.*1240T= (n.*1240T=) n.2484T= c.1020T= (p.Ser340=) c.1275T= (p.Ser425=) | |
| 12 | g.21872684A>C | CA478874855 | ABCC9 | c.2139T>G (p.Ser713=) c.*1240T>G (n.*1240T>G) n.2484T>G c.1020T>G (p.Ser340=) c.1275T>G (p.Ser425=) | |
| 12 | g.21872684A>G | CA478874856 | ABCC9 | c.2139T>C (p.Ser713=) c.*1240T>C (n.*1240T>C) n.2484T>C c.1020T>C (p.Ser340=) c.1275T>C (p.Ser425=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21872684A>T | CA478874857 | ABCC9 | c.2139T>A (p.Ser713=) c.*1240T>A (n.*1240T>A) n.2484T>A c.1020T>A (p.Ser340=) c.1275T>A (p.Ser425=) | |
| 12 | g.21872685G>A | CA384132715 | ABCC9 | c.2138C>T (p.Ser713Phe) c.*1239C>T (n.*1239C>T) n.2483C>T c.1019C>T (p.Ser340Phe) c.1274C>T (p.Ser425Phe) | |
| 12 | g.21872685G>C | CA384132716 | ABCC9 | c.2138C>G (p.Ser713Cys) c.*1239C>G (n.*1239C>G) n.2483C>G c.1019C>G (p.Ser340Cys) c.1274C>G (p.Ser425Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.21872685G= | CA2021314771 | ABCC9 | c.2138C= (p.Ser713=) c.*1239C= (n.*1239C=) n.2483C= c.1019C= (p.Ser340=) c.1274C= (p.Ser425=) | |
| 12 | g.21872685G>T | CA384132718 | ABCC9 | c.2138C>A (p.Ser713Tyr) c.*1239C>A (n.*1239C>A) n.2483C>A c.1019C>A (p.Ser340Tyr) c.1274C>A (p.Ser425Tyr) | |
| 12 | g.21872686A>C | CA384132720 | ABCC9 | c.2137T>G (p.Ser713Ala) c.*1238T>G (n.*1238T>G) n.2482T>G c.1018T>G (p.Ser340Ala) c.1273T>G (p.Ser425Ala) | |
| 12 | g.21872686A>G | CA384132722 | ABCC9 | c.2137T>C (p.Ser713Pro) c.*1238T>C (n.*1238T>C) n.2482T>C c.1018T>C (p.Ser340Pro) c.1273T>C (p.Ser425Pro) | ClinVar |
| 12 | g.21872686A>T | CA384132726 | ABCC9 | c.2137T>A (p.Ser713Thr) c.*1238T>A (n.*1238T>A) n.2482T>A c.1018T>A (p.Ser340Thr) c.1273T>A (p.Ser425Thr) | |
| 12 | g.21872687G>A | CA478874862 | ABCC9 | c.2136C>T (p.Ser712=) c.*1237C>T (n.*1237C>T) n.2481C>T c.1017C>T (p.Ser339=) c.1272C>T (p.Ser424=) | |
| 12 | g.21872687G>C | CA478874861 | ABCC9 | c.2136C>G (p.Ser712=) c.*1237C>G (n.*1237C>G) n.2481C>G c.1017C>G (p.Ser339=) c.1272C>G (p.Ser424=) | gnomAD v4 |
| 12 | g.21872687G>T | CA478874860 | ABCC9 | c.2136C>A (p.Ser712=) c.*1237C>A (n.*1237C>A) n.2481C>A c.1017C>A (p.Ser339=) c.1272C>A (p.Ser424=) | |
| 12 | g.21872688G>A | CA384132732 | ABCC9 | c.2135C>T (p.Ser712Phe) c.*1236C>T (n.*1236C>T) n.2480C>T c.1016C>T (p.Ser339Phe) c.1271C>T (p.Ser424Phe) | |
| 12 | g.21872688G>C | CA384132735 | ABCC9 | c.2135C>G (p.Ser712Cys) c.*1236C>G (n.*1236C>G) n.2480C>G c.1016C>G (p.Ser339Cys) c.1271C>G (p.Ser424Cys) | |
| 12 | g.21872688G>T | CA384132730 | ABCC9 | c.2135C>A (p.Ser712Tyr) c.*1236C>A (n.*1236C>A) n.2480C>A c.1016C>A (p.Ser339Tyr) c.1271C>A (p.Ser424Tyr) | |
| 12 | g.21872689A>C | CA384132739 | ABCC9 | c.2134T>G (p.Ser712Ala) c.*1235T>G (n.*1235T>G) n.2479T>G c.1015T>G (p.Ser339Ala) c.1270T>G (p.Ser424Ala) | |
| 12 | g.21872689A>G | CA384132742 | ABCC9 | c.2134T>C (p.Ser712Pro) c.*1235T>C (n.*1235T>C) n.2479T>C c.1015T>C (p.Ser339Pro) c.1270T>C (p.Ser424Pro) | |
| 12 | g.21872689A>T | CA384132746 | ABCC9 | c.2134T>A (p.Ser712Thr) c.*1235T>A (n.*1235T>A) n.2479T>A c.1015T>A (p.Ser339Thr) c.1270T>A (p.Ser424Thr) | |
| 12 | g.21872690C>A | CA384132752 | ABCC9 | c.2133G>T (p.Lys711Asn) c.*1234G>T (n.*1234G>T) n.2478G>T c.1014G>T (p.Lys338Asn) c.1269G>T (p.Lys423Asn) | |
| 12 | g.21872690C>G | CA384132754 | ABCC9 | c.2133G>C (p.Lys711Asn) c.*1234G>C (n.*1234G>C) n.2478G>C c.1014G>C (p.Lys338Asn) c.1269G>C (p.Lys423Asn) | |
| 12 | g.21872690C>T | CA478874866 | ABCC9 | c.2133G>A (p.Lys711=) c.*1234G>A (n.*1234G>A) n.2478G>A c.1014G>A (p.Lys338=) c.1269G>A (p.Lys423=) | gnomAD v4 |
| 12 | g.21872691T>A | CA384132758 | ABCC9 | c.2132A>T (p.Lys711Met) c.*1233A>T (n.*1233A>T) n.2477A>T c.1013A>T (p.Lys338Met) c.1268A>T (p.Lys423Met) | |
| 12 | g.21872691T>C | CA384132761 | ABCC9 | c.2132A>G (p.Lys711Arg) c.*1233A>G (n.*1233A>G) n.2477A>G c.1013A>G (p.Lys338Arg) c.1268A>G (p.Lys423Arg) | |
| 12 | g.21872691T>G | CA384132766 | ABCC9 | c.2132A>C (p.Lys711Thr) c.*1233A>C (n.*1233A>C) n.2477A>C c.1013A>C (p.Lys338Thr) c.1268A>C (p.Lys423Thr) | |
| 12 | g.21872692T>A | CA384132767 | ABCC9 | c.2131A>T (p.Lys711Ter) c.*1232A>T (n.*1232A>T) n.2476A>T c.1012A>T (p.Lys338Ter) c.1267A>T (p.Lys423Ter) | |
| 12 | g.21872692T>C | CA384132769 | ABCC9 | c.2131A>G (p.Lys711Glu) c.*1232A>G (n.*1232A>G) n.2476A>G c.1012A>G (p.Lys338Glu) c.1267A>G (p.Lys423Glu) | |
| 12 | g.21872692T>G | CA384132773 | ABCC9 | c.2131A>C (p.Lys711Gln) c.*1232A>C (n.*1232A>C) n.2476A>C c.1012A>C (p.Lys338Gln) c.1267A>C (p.Lys423Gln) | gnomAD v4 |
| 12 | g.21872693C>A | CA478874867 | ABCC9 | c.2130G>T (p.Gly710=) c.*1231G>T (n.*1231G>T) n.2475G>T c.1011G>T (p.Gly337=) c.1266G>T (p.Gly422=) | |
| 12 | g.21872693C= | CA2021314774 | ABCC9 | c.2130G= (p.Gly710=) c.*1231G= (n.*1231G=) n.2475G= c.1011G= (p.Gly337=) c.1266G= (p.Gly422=) | |
| 12 | g.21872693C>G | CA478874868 | ABCC9 | c.2130G>C (p.Gly710=) c.*1231G>C (n.*1231G>C) n.2475G>C c.1011G>C (p.Gly337=) c.1266G>C (p.Gly422=) | |
| 12 | g.21872693C>T | CA233611505 | ABCC9 | c.2130G>A (p.Gly710=) c.*1231G>A (n.*1231G>A) n.2475G>A c.1011G>A (p.Gly337=) c.1266G>A (p.Gly422=) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.21872695del | CA2794817414 | ABCC9 | c.2130del (p.Lys711SerfsTer24) c.*1231del (n.*1231del) n.2475del c.1011del (p.Lys338SerfsTer24) c.2130del (p.Lys711SerfsTer?) c.1266del (p.Lys423SerfsTer24) | |
| 12 | g.21872694C>A | CA384132778 | ABCC9 | c.2129G>T (p.Gly710Val) c.*1230G>T (n.*1230G>T) n.2474G>T c.1010G>T (p.Gly337Val) c.1265G>T (p.Gly422Val) | |
| 12 | g.21872694C>G | CA384132779 | ABCC9 | c.2129G>C (p.Gly710Ala) c.*1230G>C (n.*1230G>C) n.2474G>C c.1010G>C (p.Gly337Ala) c.1265G>C (p.Gly422Ala) | |
| 12 | g.21872694C>T | CA384132777 | ABCC9 | c.2129G>A (p.Gly710Glu) c.*1230G>A (n.*1230G>A) n.2474G>A c.1010G>A (p.Gly337Glu) c.1265G>A (p.Gly422Glu) | |
| 12 | g.21872695C>A | CA384132780 | ABCC9 | c.2128G>T (p.Gly710Trp) c.*1229G>T (n.*1229G>T) n.2473G>T c.1009G>T (p.Gly337Trp) c.1264G>T (p.Gly422Trp) | |
| 12 | g.21872695C>G | CA384132781 | ABCC9 | c.2128G>C (p.Gly710Arg) c.*1229G>C (n.*1229G>C) n.2473G>C c.1009G>C (p.Gly337Arg) c.1264G>C (p.Gly422Arg) | |
| 12 | g.21872695C>T | CA384132782 | ABCC9 | c.2128G>A (p.Gly710Arg) c.*1229G>A (n.*1229G>A) n.2473G>A c.1009G>A (p.Gly337Arg) c.1264G>A (p.Gly422Arg) | |
| 12 | g.21872696A>C | CA384132784 | ABCC9 | c.2127T>G (p.Cys709Trp) c.*1228T>G (n.*1228T>G) n.2472T>G c.1008T>G (p.Cys336Trp) c.1263T>G (p.Cys421Trp) | |
| 12 | g.21872696A>G | CA478874872 | ABCC9 | c.2127T>C (p.Cys709=) c.*1228T>C (n.*1228T>C) n.2472T>C c.1008T>C (p.Cys336=) c.1263T>C (p.Cys421=) | |
| 12 | g.21872696A>T | CA384132785 | ABCC9 | c.2127T>A (p.Cys709Ter) c.*1228T>A (n.*1228T>A) n.2472T>A c.1008T>A (p.Cys336Ter) c.1263T>A (p.Cys421Ter) | |
| 12 | g.21872697C>A | CA384132797 | ABCC9 | c.2126G>T (p.Cys709Phe) c.*1227G>T (n.*1227G>T) n.2471G>T c.1007G>T (p.Cys336Phe) c.1262G>T (p.Cys421Phe) | |
| 12 | g.21872697C>G | CA384132789 | ABCC9 | c.2126G>C (p.Cys709Ser) c.*1227G>C (n.*1227G>C) n.2471G>C c.1007G>C (p.Cys336Ser) c.1262G>C (p.Cys421Ser) | |
| 12 | g.21872697C>T | CA384132794 | ABCC9 | c.2126G>A (p.Cys709Tyr) c.*1227G>A (n.*1227G>A) n.2471G>A c.1007G>A (p.Cys336Tyr) c.1262G>A (p.Cys421Tyr) | |
| 12 | g.21872698A>C | CA384132800 | ABCC9 | c.2125T>G (p.Cys709Gly) c.*1226T>G (n.*1226T>G) n.2470T>G c.1006T>G (p.Cys336Gly) c.1261T>G (p.Cys421Gly) | |
| 12 | g.21872698A>G | CA384132802 | ABCC9 | c.2125T>C (p.Cys709Arg) c.*1226T>C (n.*1226T>C) n.2470T>C c.1006T>C (p.Cys336Arg) c.1261T>C (p.Cys421Arg) | |
| 12 | g.21872698A>T | CA384132804 | ABCC9 | c.2125T>A (p.Cys709Ser) c.*1226T>A (n.*1226T>A) n.2470T>A c.1006T>A (p.Cys336Ser) c.1261T>A (p.Cys421Ser) | |
| 12 | g.21872699T>A | CA478874875 | ABCC9 | c.2124A>T (p.Gly708=) c.*1225A>T (n.*1225A>T) n.2469A>T c.1005A>T (p.Gly335=) c.1260A>T (p.Gly420=) | |
| 12 | g.21872699T>C | CA478874877 | ABCC9 | c.2124A>G (p.Gly708=) c.*1225A>G (n.*1225A>G) n.2469A>G c.1005A>G (p.Gly335=) c.1260A>G (p.Gly420=) | |
| 12 | g.21872699T>G | CA478874878 | ABCC9 | c.2124A>C (p.Gly708=) c.*1225A>C (n.*1225A>C) n.2469A>C c.1005A>C (p.Gly335=) c.1260A>C (p.Gly420=) | |
| 12 | g.21872699_21872700delinsTC | CA2021314778 | ABCC9 | c.2123_2124delinsGA (p.Gly708=) c.*1224_*1225delinsGA (n.*1224_*1225delinsGA) n.2468_2469delinsGA c.1004_1005delinsGA (p.Gly335=) c.1259_1260delinsGA (p.Gly420=) | |
| 12 | g.21872700C>A | CA384132808 | ABCC9 | c.2123G>T (p.Gly708Val) c.*1224G>T (n.*1224G>T) n.2468G>T c.1004G>T (p.Gly335Val) c.1259G>T (p.Gly420Val) | |
| 12 | g.21872700C= | CA2021314782 | ABCC9 | c.2123G= (p.Gly708=) c.*1224G= (n.*1224G=) n.2468G= c.1004G= (p.Gly335=) c.1259G= (p.Gly420=) | |
| 12 | g.21872700C>G | CA384132823 | ABCC9 | c.2123G>C (p.Gly708Ala) c.*1224G>C (n.*1224G>C) n.2468G>C c.1004G>C (p.Gly335Ala) c.1259G>C (p.Gly420Ala) | COSMIC COSMIC |
| 12 | g.21872700C>T | CA384132828 | ABCC9 | c.2123G>A (p.Gly708Glu) c.*1224G>A (n.*1224G>A) n.2468G>A c.1004G>A (p.Gly335Glu) c.1259G>A (p.Gly420Glu) | dbSNP |
| 12 | g.21872701del | CA2021314781 | ABCC9 | c.2123del (p.Gly708AspfsTer27) c.*1224del (n.*1224del) n.2468del c.1004del (p.Gly335AspfsTer27) c.2123del (p.Gly708AspfsTer?) c.1259del (p.Gly420AspfsTer27) | dbSNP |
| 12 | g.21872701C>A | CA384132839 | ABCC9 | c.2122G>T (p.Gly708Ter) c.*1223G>T (n.*1223G>T) n.2467G>T c.1003G>T (p.Gly335Ter) c.1258G>T (p.Gly420Ter) | COSMIC COSMIC |
| 12 | g.21872701C>G | CA384132838 | ABCC9 | c.2122G>C (p.Gly708Arg) c.*1223G>C (n.*1223G>C) n.2467G>C c.1003G>C (p.Gly335Arg) c.1258G>C (p.Gly420Arg) | |
| 12 | g.21872701C>T | CA384132834 | ABCC9 | c.2122G>A (p.Gly708Arg) c.*1223G>A (n.*1223G>A) n.2467G>A c.1003G>A (p.Gly335Arg) c.1258G>A (p.Gly420Arg) | |
| 12 | g.21872702T>A | CA6481484 | ABCC9 | c.2121A>T (p.Val707=) c.*1222A>T (n.*1222A>T) n.2466A>T c.1002A>T (p.Val334=) c.1257A>T (p.Val419=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21872702T>C | CA478874881 | ABCC9 | c.2121A>G (p.Val707=) c.*1222A>G (n.*1222A>G) n.2466A>G c.1002A>G (p.Val334=) c.1257A>G (p.Val419=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21872702T>G | CA478874879 | ABCC9 | c.2121A>C (p.Val707=) c.*1222A>C (n.*1222A>C) n.2466A>C c.1002A>C (p.Val334=) c.1257A>C (p.Val419=) | |
| 12 | g.21872702T= | CA2021314787 | ABCC9 | c.2121A= (p.Val707=) c.*1222A= (n.*1222A=) n.2466A= c.1002A= (p.Val334=) c.1257A= (p.Val419=) | |
| 12 | g.21872703A>C | CA384132840 | ABCC9 | c.2120T>G (p.Val707Gly) c.*1221T>G (n.*1221T>G) n.2465T>G c.1001T>G (p.Val334Gly) c.1256T>G (p.Val419Gly) | |
| 12 | g.21872703A>G | CA384132848 | ABCC9 | c.2120T>C (p.Val707Ala) c.*1221T>C (n.*1221T>C) n.2465T>C c.1001T>C (p.Val334Ala) c.1256T>C (p.Val419Ala) | |
| 12 | g.21872703A>T | CA384132845 | ABCC9 | c.2120T>A (p.Val707Glu) c.*1221T>A (n.*1221T>A) n.2465T>A c.1001T>A (p.Val334Glu) c.1256T>A (p.Val419Glu) | |
| 12 | g.21872704C>A | CA384132857 | ABCC9 | c.2119G>T (p.Val707Leu) c.*1220G>T (n.*1220G>T) n.2464G>T c.1000G>T (p.Val334Leu) c.1255G>T (p.Val419Leu) | |
| 12 | g.21872704C>G | CA384132864 | ABCC9 | c.2119G>C (p.Val707Leu) c.*1220G>C (n.*1220G>C) n.2464G>C c.1000G>C (p.Val334Leu) c.1255G>C (p.Val419Leu) | |
| 12 | g.21872704C>T | CA384132871 | ABCC9 | c.2119G>A (p.Val707Ile) c.*1220G>A (n.*1220G>A) n.2464G>A c.1000G>A (p.Val334Ile) c.1255G>A (p.Val419Ile) | |
| 12 | g.21872705T>A | CA384132872 | ABCC9 | c.2118A>T (p.Gln706His) c.*1219A>T (n.*1219A>T) n.2463A>T c.999A>T (p.Gln333His) c.1254A>T (p.Gln418His) | |
| 12 | g.21872705T>C | CA478874884 | ABCC9 | c.2118A>G (p.Gln706=) c.*1219A>G (n.*1219A>G) n.2463A>G c.999A>G (p.Gln333=) c.1254A>G (p.Gln418=) | |
| 12 | g.21872705T>G | CA384132875 | ABCC9 | c.2118A>C (p.Gln706His) c.*1219A>C (n.*1219A>C) n.2463A>C c.999A>C (p.Gln333His) c.1254A>C (p.Gln418His) | |
| 12 | g.21872706T>A | CA384132878 | ABCC9 | c.2117A>T (p.Gln706Leu) c.*1218A>T (n.*1218A>T) n.2462A>T c.998A>T (p.Gln333Leu) c.1253A>T (p.Gln418Leu) | |
| 12 | g.21872706T>C | CA384132879 | ABCC9 | c.2117A>G (p.Gln706Arg) c.*1218A>G (n.*1218A>G) n.2462A>G c.998A>G (p.Gln333Arg) c.1253A>G (p.Gln418Arg) | |
| 12 | g.21872706T>G | CA384132880 | ABCC9 | c.2117A>C (p.Gln706Pro) c.*1218A>C (n.*1218A>C) n.2462A>C c.998A>C (p.Gln333Pro) c.1253A>C (p.Gln418Pro) | |
| 12 | g.21872707G>A | CA384132881 | ABCC9 | c.2116C>T (p.Gln706Ter) c.*1217C>T (n.*1217C>T) n.2461C>T c.997C>T (p.Gln333Ter) c.1252C>T (p.Gln418Ter) | |
| 12 | g.21872707G>C | CA384132882 | ABCC9 | c.2116C>G (p.Gln706Glu) c.*1217C>G (n.*1217C>G) n.2461C>G c.997C>G (p.Gln333Glu) c.1252C>G (p.Gln418Glu) | |
| 12 | g.21872707G>T | CA384132888 | ABCC9 | c.2116C>A (p.Gln706Lys) c.*1217C>A (n.*1217C>A) n.2461C>A c.997C>A (p.Gln333Lys) c.1252C>A (p.Gln418Lys) | |
| 12 | g.21872708del | CA2580085264 | ABCC9 | c.2116del (p.Gln706LysfsTer2) c.*1217del (n.*1217del) n.2461del c.997del (p.Gln333LysfsTer2) c.1252del (p.Gln418LysfsTer2) | ClinVar |
| 12 | g.21872708G>A | CA478874886 | ABCC9 | c.2115C>T (p.Gly705=) c.*1216C>T (n.*1216C>T) n.2460C>T c.996C>T (p.Gly332=) c.1251C>T (p.Gly417=) | gnomAD v4 |
| 12 | g.21872708G>C | CA478874888 | ABCC9 | c.2115C>G (p.Gly705=) c.*1216C>G (n.*1216C>G) n.2460C>G c.996C>G (p.Gly332=) c.1251C>G (p.Gly417=) | |
| 12 | g.21872708G>T | CA478874887 | ABCC9 | c.2115C>A (p.Gly705=) c.*1216C>A (n.*1216C>A) n.2460C>A c.996C>A (p.Gly332=) c.1251C>A (p.Gly417=) | |
| 12 | g.21872709C>A | CA384132914 | ABCC9 | c.2114G>T (p.Gly705Val) c.*1215G>T (n.*1215G>T) n.2459G>T c.995G>T (p.Gly332Val) c.1250G>T (p.Gly417Val) | |
| 12 | g.21872709C>G | CA384132893 | ABCC9 | c.2114G>C (p.Gly705Ala) c.*1215G>C (n.*1215G>C) n.2459G>C c.995G>C (p.Gly332Ala) c.1250G>C (p.Gly417Ala) | |
| 12 | g.21872709C>T | CA384132901 | ABCC9 | c.2114G>A (p.Gly705Asp) c.*1215G>A (n.*1215G>A) n.2459G>A c.995G>A (p.Gly332Asp) c.1250G>A (p.Gly417Asp) | |
| 12 | g.21872710C>A | CA384132919 | ABCC9 | c.2113G>T (p.Gly705Cys) c.*1214G>T (n.*1214G>T) n.2458G>T c.994G>T (p.Gly332Cys) c.1249G>T (p.Gly417Cys) | |
| 12 | g.21872710C= | CA2021314790 | ABCC9 | c.2113G= (p.Gly705=) c.*1214G= (n.*1214G=) n.2458G= c.994G= (p.Gly332=) c.1249G= (p.Gly417=) | |
| 12 | g.21872710C>G | CA384132921 | ABCC9 | c.2113G>C (p.Gly705Arg) c.*1214G>C (n.*1214G>C) n.2458G>C c.994G>C (p.Gly332Arg) c.1249G>C (p.Gly417Arg) | |
| 12 | g.21872710C>T | CA384132924 | ABCC9 | c.2113G>A (p.Gly705Ser) c.*1214G>A (n.*1214G>A) n.2458G>A c.994G>A (p.Gly332Ser) c.1249G>A (p.Gly417Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.21872711C>A | CA478874890 | ABCC9 | c.2112G>T (p.Val704=) c.*1213G>T (n.*1213G>T) n.2457G>T c.993G>T (p.Val331=) c.1248G>T (p.Val416=) | |
| 12 | g.21872711C= | CA2021314792 | ABCC9 | c.2112G= (p.Val704=) c.*1213G= (n.*1213G=) n.2457G= c.993G= (p.Val331=) c.1248G= (p.Val416=) | |
| 12 | g.21872711C>G | CA6481485 | ABCC9 | c.2112G>C (p.Val704=) c.*1213G>C (n.*1213G>C) n.2457G>C c.993G>C (p.Val331=) c.1248G>C (p.Val416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872711C>T | CA478874891 | ABCC9 | c.2112G>A (p.Val704=) c.*1213G>A (n.*1213G>A) n.2457G>A c.993G>A (p.Val331=) c.1248G>A (p.Val416=) | |
| 12 | g.21872712A>C | CA384132932 | ABCC9 | c.2111T>G (p.Val704Gly) c.*1212T>G (n.*1212T>G) n.2456T>G c.992T>G (p.Val331Gly) c.1247T>G (p.Val416Gly) | |
| 12 | g.21872712A>G | CA384132935 | ABCC9 | c.2111T>C (p.Val704Ala) c.*1212T>C (n.*1212T>C) n.2456T>C c.992T>C (p.Val331Ala) c.1247T>C (p.Val416Ala) | |
| 12 | g.21872712A>T | CA384132937 | ABCC9 | c.2111T>A (p.Val704Glu) c.*1212T>A (n.*1212T>A) n.2456T>A c.992T>A (p.Val331Glu) c.1247T>A (p.Val416Glu) | |
| 12 | g.21872713C>A | CA384132940 | ABCC9 | c.2110G>T (p.Val704Leu) c.*1211G>T (n.*1211G>T) n.2455G>T c.991G>T (p.Val331Leu) c.1246G>T (p.Val416Leu) | |
| 12 | g.21872713C>G | CA384132942 | ABCC9 | c.2110G>C (p.Val704Leu) c.*1211G>C (n.*1211G>C) n.2455G>C c.991G>C (p.Val331Leu) c.1246G>C (p.Val416Leu) | |
| 12 | g.21872713C>T | CA384132945 | ABCC9 | c.2110G>A (p.Val704Met) c.*1211G>A (n.*1211G>A) n.2455G>A c.991G>A (p.Val331Met) c.1246G>A (p.Val416Met) | |
| 12 | g.21872714A>C | CA384132949 | ABCC9 | c.2109T>G (p.Ile703Met) c.*1210T>G (n.*1210T>G) n.2454T>G c.990T>G (p.Ile330Met) c.1245T>G (p.Ile415Met) | |
| 12 | g.21872714A>G | CA478874895 | ABCC9 | c.2109T>C (p.Ile703=) c.*1210T>C (n.*1210T>C) n.2454T>C c.990T>C (p.Ile330=) c.1245T>C (p.Ile415=) | |
| 12 | g.21872714A>T | CA478874896 | ABCC9 | c.2109T>A (p.Ile703=) c.*1210T>A (n.*1210T>A) n.2454T>A c.990T>A (p.Ile330=) c.1245T>A (p.Ile415=) | |
| 12 | g.21872715A>C | CA384132983 | ABCC9 | c.2108T>G (p.Ile703Ser) c.*1209T>G (n.*1209T>G) n.2453T>G c.989T>G (p.Ile330Ser) c.1244T>G (p.Ile415Ser) | |
| 12 | g.21872715A>G | CA384132989 | ABCC9 | c.2108T>C (p.Ile703Thr) c.*1209T>C (n.*1209T>C) n.2453T>C c.989T>C (p.Ile330Thr) c.1244T>C (p.Ile415Thr) | |
| 12 | g.21872715A>T | CA384132974 | ABCC9 | c.2108T>A (p.Ile703Asn) c.*1209T>A (n.*1209T>A) n.2453T>A c.989T>A (p.Ile330Asn) c.1244T>A (p.Ile415Asn) | |
| 12 | g.21872716T>A | CA384132991 | ABCC9 | c.2107A>T (p.Ile703Phe) c.*1208A>T (n.*1208A>T) n.2452A>T c.988A>T (p.Ile330Phe) c.1243A>T (p.Ile415Phe) | ClinVar |
| 12 | g.21872716T>C | CA384132995 | ABCC9 | c.2107A>G (p.Ile703Val) c.*1208A>G (n.*1208A>G) n.2452A>G c.988A>G (p.Ile330Val) c.1243A>G (p.Ile415Val) | |
| 12 | g.21872716T>G | CA384133001 | ABCC9 | c.2107A>C (p.Ile703Leu) c.*1208A>C (n.*1208A>C) n.2452A>C c.988A>C (p.Ile330Leu) c.1243A>C (p.Ile415Leu) | |
| 12 | g.21872717C>A | CA384133006 | ABCC9 | c.2106G>T (p.Met702Ile) c.*1207G>T (n.*1207G>T) n.2451G>T c.987G>T (p.Met329Ile) c.1242G>T (p.Met414Ile) | |
| 12 | g.21872717C>G | CA384133008 | ABCC9 | c.2106G>C (p.Met702Ile) c.*1207G>C (n.*1207G>C) n.2451G>C c.987G>C (p.Met329Ile) c.1242G>C (p.Met414Ile) | |
| 12 | g.21872717C>T | CA384133019 | ABCC9 | c.2106G>A (p.Met702Ile) c.*1207G>A (n.*1207G>A) n.2451G>A c.987G>A (p.Met329Ile) c.1242G>A (p.Met414Ile) | |
| 12 | g.21872718A>C | CA384133030 | ABCC9 | c.2105T>G (p.Met702Arg) c.*1206T>G (n.*1206T>G) n.2450T>G c.986T>G (p.Met329Arg) c.1241T>G (p.Met414Arg) | |
| 12 | g.21872718A>G | CA384133034 | ABCC9 | c.2105T>C (p.Met702Thr) c.*1206T>C (n.*1206T>C) n.2450T>C c.986T>C (p.Met329Thr) c.1241T>C (p.Met414Thr) | gnomAD v4 |
| 12 | g.21872718A>T | CA384133039 | ABCC9 | c.2105T>A (p.Met702Lys) c.*1206T>A (n.*1206T>A) n.2450T>A c.986T>A (p.Met329Lys) c.1241T>A (p.Met414Lys) | |
| 12 | g.21872718_21872719delinsAT | CA2021314795 | ABCC9 | c.2104_2105delinsAT (p.Met702=) c.*1205_*1206delinsAT (n.*1205_*1206delinsAT) n.2449_2450delinsAT c.985_986delinsAT (p.Met329=) c.1240_1241delinsAT (p.Met414=) | |
| 12 | g.21872719del | CA6481486 | ABCC9 | c.2104del (p.Met702Ter) c.*1205del (n.*1205del) n.2449del c.985del (p.Met329Ter) c.1240del (p.Met414Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21872719T>A | CA384133045 | ABCC9 | c.2104A>T (p.Met702Leu) c.*1205A>T (n.*1205A>T) n.2449A>T c.985A>T (p.Met329Leu) c.1240A>T (p.Met414Leu) | |
| 12 | g.21872719T>C | CA384133051 | ABCC9 | c.2104A>G (p.Met702Val) c.*1205A>G (n.*1205A>G) n.2449A>G c.985A>G (p.Met329Val) c.1240A>G (p.Met414Val) | gnomAD v4 |
| 12 | g.21872719T>G | CA384133054 | ABCC9 | c.2104A>C (p.Met702Leu) c.*1205A>C (n.*1205A>C) n.2449A>C c.985A>C (p.Met329Leu) c.1240A>C (p.Met414Leu) | |
| 12 | g.21872719T= | CA2021314799 | ABCC9 | c.2104A= (p.Met702=) c.*1205A= (n.*1205A=) n.2449A= c.985A= (p.Met329=) c.1240A= (p.Met414=) | |
| 12 | g.21872720G>A | CA478874899 | ABCC9 | c.2103C>T (p.Thr701=) c.*1204C>T (n.*1204C>T) n.2448C>T c.984C>T (p.Thr328=) c.1239C>T (p.Thr413=) | gnomAD v4 |
| 12 | g.21872720G>C | CA478874900 | ABCC9 | c.2103C>G (p.Thr701=) c.*1204C>G (n.*1204C>G) n.2448C>G c.984C>G (p.Thr328=) c.1239C>G (p.Thr413=) | |
| 12 | g.21872720G>T | CA478874901 | ABCC9 | c.2103C>A (p.Thr701=) c.*1204C>A (n.*1204C>A) n.2448C>A c.984C>A (p.Thr328=) c.1239C>A (p.Thr413=) | |
| 12 | g.21872721dup | CA233611514 | ABCC9 | c.2103dup (p.Met702HisfsTer20) c.*1204dup (n.*1204dup) n.2448dup c.984dup (p.Met329HisfsTer20) c.1239dup (p.Met414HisfsTer20) | dbSNP |
| 12 | g.21872721G>A | CA384133085 | ABCC9 | c.2102C>T (p.Thr701Ile) c.*1203C>T (n.*1203C>T) n.2447C>T c.983C>T (p.Thr328Ile) c.1238C>T (p.Thr413Ile) | |
| 12 | g.21872721G>C | CA384133068 | ABCC9 | c.2102C>G (p.Thr701Ser) c.*1203C>G (n.*1203C>G) n.2447C>G c.983C>G (p.Thr328Ser) c.1238C>G (p.Thr413Ser) | |
| 12 | g.21872721G= | CA2021314804 | ABCC9 | c.2102C= (p.Thr701=) c.*1203C= (n.*1203C=) n.2447C= c.983C= (p.Thr328=) c.1238C= (p.Thr413=) | |
| 12 | g.21872721G>T | CA6481487 | ABCC9 | c.2102C>A (p.Thr701Asn) c.*1203C>A (n.*1203C>A) n.2447C>A c.983C>A (p.Thr328Asn) c.1238C>A (p.Thr413Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872722T>A | CA384133088 | ABCC9 | c.2101A>T (p.Thr701Ser) c.*1202A>T (n.*1202A>T) n.2446A>T c.982A>T (p.Thr328Ser) c.1237A>T (p.Thr413Ser) | |
| 12 | g.21872722T>C | CA384133091 | ABCC9 | c.2101A>G (p.Thr701Ala) c.*1202A>G (n.*1202A>G) n.2446A>G c.982A>G (p.Thr328Ala) c.1237A>G (p.Thr413Ala) | |
| 12 | g.21872722T>G | CA384133100 | ABCC9 | c.2101A>C (p.Thr701Pro) c.*1202A>C (n.*1202A>C) n.2446A>C c.982A>C (p.Thr328Pro) c.1237A>C (p.Thr413Pro) | COSMIC COSMIC |
| 12 | g.21872723T>A | CA384133106 | ABCC9 | c.2100A>T (p.Leu700Phe) c.*1201A>T (n.*1201A>T) n.2445A>T c.981A>T (p.Leu327Phe) c.1236A>T (p.Leu412Phe) | |
| 12 | g.21872723T>C | CA478874903 | ABCC9 | c.2100A>G (p.Leu700=) c.*1201A>G (n.*1201A>G) n.2445A>G c.981A>G (p.Leu327=) c.1236A>G (p.Leu412=) | |
| 12 | g.21872723T>G | CA384133108 | ABCC9 | c.2100A>C (p.Leu700Phe) c.*1201A>C (n.*1201A>C) n.2445A>C c.981A>C (p.Leu327Phe) c.1236A>C (p.Leu412Phe) | |
| 12 | g.21872724A>C | CA384133116 | ABCC9 | c.2099T>G (p.Leu700Ter) c.*1200T>G (n.*1200T>G) n.2444T>G c.980T>G (p.Leu327Ter) c.1235T>G (p.Leu412Ter) | ClinVar |
| 12 | g.21872724A>G | CA384133125 | ABCC9 | c.2099T>C (p.Leu700Ser) c.*1200T>C (n.*1200T>C) n.2444T>C c.980T>C (p.Leu327Ser) c.1235T>C (p.Leu412Ser) | |
| 12 | g.21872724A>T | CA384133129 | ABCC9 | c.2099T>A (p.Leu700Ter) c.*1200T>A (n.*1200T>A) n.2444T>A c.980T>A (p.Leu327Ter) c.1235T>A (p.Leu412Ter) | |
| 12 | g.21872725A= | CA2021314809 | ABCC9 | c.2098T= (p.Leu700=) c.*1199T= (n.*1199T=) n.2443T= c.979T= (p.Leu327=) c.1234T= (p.Leu412=) | |
| 12 | g.21872725A>C | CA384133133 | ABCC9 | c.2098T>G (p.Leu700Val) c.*1199T>G (n.*1199T>G) n.2443T>G c.979T>G (p.Leu327Val) c.1234T>G (p.Leu412Val) | |
| 12 | g.21872725A>G | CA478874904 | ABCC9 | c.2098T>C (p.Leu700=) c.*1199T>C (n.*1199T>C) n.2443T>C c.979T>C (p.Leu327=) c.1234T>C (p.Leu412=) | dbSNP |
| 12 | g.21872725A>T | CA384133134 | ABCC9 | c.2098T>A (p.Leu700Ile) c.*1199T>A (n.*1199T>A) n.2443T>A c.979T>A (p.Leu327Ile) c.1234T>A (p.Leu412Ile) | |
| 12 | g.21872726C>A | CA384133137 | ABCC9 | c.2097G>T (p.Gln699His) c.*1198G>T (n.*1198G>T) n.2442G>T c.978G>T (p.Gln326His) c.1233G>T (p.Gln411His) | |
| 12 | g.21872726C= | CA2021314813 | ABCC9 | c.2097G= (p.Gln699=) c.*1198G= (n.*1198G=) n.2442G= c.978G= (p.Gln326=) c.1233G= (p.Gln411=) | |
| 12 | g.21872726C>G | CA384133138 | ABCC9 | c.2097G>C (p.Gln699His) c.*1198G>C (n.*1198G>C) n.2442G>C c.978G>C (p.Gln326His) c.1233G>C (p.Gln411His) | |
| 12 | g.21872726C>T | CA6481488 | ABCC9 | c.2097G>A (p.Gln699=) c.*1198G>A (n.*1198G>A) n.2442G>A c.978G>A (p.Gln326=) c.1233G>A (p.Gln411=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21872727T>A | CA384133159 | ABCC9 | c.2096A>T (p.Gln699Leu) c.*1197A>T (n.*1197A>T) n.2441A>T c.977A>T (p.Gln326Leu) c.1232A>T (p.Gln411Leu) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21872727T>C | CA384133161 | ABCC9 | c.2096A>G (p.Gln699Arg) c.*1197A>G (n.*1197A>G) n.2441A>G c.977A>G (p.Gln326Arg) c.1232A>G (p.Gln411Arg) | |
| 12 | g.21872727T>G | CA384133155 | ABCC9 | c.2096A>C (p.Gln699Pro) c.*1197A>C (n.*1197A>C) n.2441A>C c.977A>C (p.Gln326Pro) c.1232A>C (p.Gln411Pro) | |
| 12 | g.21872728G>A | CA384133163 | ABCC9 | c.2095C>T (p.Gln699Ter) c.*1196C>T (n.*1196C>T) n.2440C>T c.976C>T (p.Gln326Ter) c.1231C>T (p.Gln411Ter) | gnomAD v4 |
| 12 | g.21872728G>C | CA384133167 | ABCC9 | c.2095C>G (p.Gln699Glu) c.*1196C>G (n.*1196C>G) n.2440C>G c.976C>G (p.Gln326Glu) c.1231C>G (p.Gln411Glu) | |
| 12 | g.21872728G>T | CA384133165 | ABCC9 | c.2095C>A (p.Gln699Lys) c.*1196C>A (n.*1196C>A) n.2440C>A c.976C>A (p.Gln326Lys) c.1231C>A (p.Gln411Lys) | |
| 12 | g.21872729A>C | CA478874907 | ABCC9 | c.2094T>G (p.Gly698=) c.*1195T>G (n.*1195T>G) n.2439T>G c.975T>G (p.Gly325=) c.1230T>G (p.Gly410=) | |
| 12 | g.21872729A>G | CA478874908 | ABCC9 | c.2094T>C (p.Gly698=) c.*1195T>C (n.*1195T>C) n.2439T>C c.975T>C (p.Gly325=) c.1230T>C (p.Gly410=) | |
| 12 | g.21872729A>T | CA478874909 | ABCC9 | c.2094T>A (p.Gly698=) c.*1195T>A (n.*1195T>A) n.2439T>A c.975T>A (p.Gly325=) c.1230T>A (p.Gly410=) | |
| 12 | g.21872730C>A | CA384133169 | ABCC9 | c.2093G>T (p.Gly698Val) c.*1194G>T (n.*1194G>T) n.2438G>T c.974G>T (p.Gly325Val) c.1229G>T (p.Gly410Val) | |
| 12 | g.21872730C>G | CA384133173 | ABCC9 | c.2093G>C (p.Gly698Ala) c.*1194G>C (n.*1194G>C) n.2438G>C c.974G>C (p.Gly325Ala) c.1229G>C (p.Gly410Ala) | |
| 12 | g.21872730C>T | CA384133170 | ABCC9 | c.2093G>A (p.Gly698Asp) c.*1194G>A (n.*1194G>A) n.2438G>A c.974G>A (p.Gly325Asp) c.1229G>A (p.Gly410Asp) | gnomAD v4 |
| 12 | g.21872731C>A | CA384133179 | ABCC9 | c.2093-1G>T (n.2093-1G>T) c.*1194-1G>T (n.*1194-1G>T) n.2438-1G>T c.974-1G>T (n.974-1G>T) c.1229-1G>T (n.1229-1G>T) | |
| 12 | g.21872731C>G | CA384133182 | ABCC9 | c.2093-1G>C (n.2093-1G>C) c.*1194-1G>C (n.*1194-1G>C) n.2438-1G>C c.974-1G>C (n.974-1G>C) c.1229-1G>C (n.1229-1G>C) | |
| 12 | g.21872731C>T | CA384133184 | ABCC9 | c.2093-1G>A (n.2093-1G>A) c.*1194-1G>A (n.*1194-1G>A) n.2438-1G>A c.974-1G>A (n.974-1G>A) c.1229-1G>A (n.1229-1G>A) | gnomAD v4 COSMIC COSMIC |
| 12 | g.21872732T>A | CA384133185 | ABCC9 | c.2093-2A>T (n.2093-2A>T) c.*1194-2A>T (n.*1194-2A>T) n.2438-2A>T c.974-2A>T (n.974-2A>T) c.1229-2A>T (n.1229-2A>T) | |
| 12 | g.21872732T>C | CA384133187 | ABCC9 | c.2093-2A>G (n.2093-2A>G) c.*1194-2A>G (n.*1194-2A>G) n.2438-2A>G c.974-2A>G (n.974-2A>G) c.1229-2A>G (n.1229-2A>G) | |
| 12 | g.21872732T>G | CA384133194 | ABCC9 | c.2093-2A>C (n.2093-2A>C) c.*1194-2A>C (n.*1194-2A>C) n.2438-2A>C c.974-2A>C (n.974-2A>C) c.1229-2A>C (n.1229-2A>C) | |
| 12 | g.21872734G>A | CA6481489 | ABCC9 | c.2093-4C>T (n.2093-4C>T) c.*1194-4C>T (n.*1194-4C>T) n.2438-4C>T c.974-4C>T (n.974-4C>T) c.1229-4C>T (n.1229-4C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21872734G= | CA2021314814 | ABCC9 | c.2093-4C= (n.2093-4C=) c.*1194-4C= (n.*1194-4C=) n.2438-4C= c.974-4C= (n.974-4C=) c.1229-4C= (n.1229-4C=) | |
| 12 | g.21872735G>T | CA2617933305 | ABCC9 | c.2093-5C>A (n.2093-5C>A) c.*1194-5C>A (n.*1194-5C>A) n.2438-5C>A c.974-5C>A (n.974-5C>A) c.1229-5C>A (n.1229-5C>A) | gnomAD v4 |
| 12 | g.21872737A= | CA2021314816 | ABCC9 | c.2093-7T= (n.2093-7T=) c.*1194-7T= (n.*1194-7T=) n.2438-7T= c.974-7T= (n.974-7T=) c.1229-7T= (n.1229-7T=) | |
| 12 | g.21872737A>C | CA16607208 | ABCC9 | c.2093-7T>G (n.2093-7T>G) c.*1194-7T>G (n.*1194-7T>G) n.2438-7T>G c.974-7T>G (n.974-7T>G) c.1229-7T>G (n.1229-7T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.21872737A>G | CA136255 | ABCC9 | c.2093-7T>C (n.2093-7T>C) c.*1194-7T>C (n.*1194-7T>C) n.2438-7T>C c.974-7T>C (n.974-7T>C) c.1229-7T>C (n.1229-7T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |