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 |
|---|---|---|---|---|---|
| 14 | g.90043107_90043139del | CA2626052285 | TDP1 | c.1791_1823del (p.Pro598_Ser608del) c.*67_*99del (n.*67_*99del) c.*1114_*1146del (n.*1114_*1146del) c.*1350_*1382del (n.*1350_*1382del) c.*976_*1008del (n.*976_*1008del) c.1682_1714del (p.His561_Pro571del) c.996_1028del (p.Pro333_Ser343del) c.1917_1949del (p.Pro640_Ser650del) c.1074_1106del (p.Pro359_Ser369del) c.965_997del (p.His322_Pro332del) n.2021_2053del n.2295_2327del | gnomAD v4 |
| 14 | g.90043115C>A | CA390584518 | TDP1 | c.1799C>A (p.Thr600Lys) c.*75C>A (n.*75C>A) c.*1122C>A (n.*1122C>A) c.*1358C>A (n.*1358C>A) c.*984C>A (n.*984C>A) c.1690C>A (p.Arg564Ser) c.1004C>A (p.Thr335Lys) c.1925C>A (p.Thr642Lys) c.1082C>A (p.Thr361Lys) c.973C>A (p.Arg325Ser) n.2029C>A n.2303C>A | |
| 14 | g.90043115C= | CA2154324044 | TDP1 | c.1799C= (p.Thr600=) c.*75C= (n.*75C=) c.*1122C= (n.*1122C=) c.*1358C= (n.*1358C=) c.*984C= (n.*984C=) c.1690C= (p.Arg564=) c.1004C= (p.Thr335=) c.1925C= (p.Thr642=) c.1082C= (p.Thr361=) c.973C= (p.Arg325=) n.2029C= n.2303C= | |
| 14 | g.90043115C>G | CA390584522 | TDP1 | c.1799C>G (p.Thr600Arg) c.*75C>G (n.*75C>G) c.*1122C>G (n.*1122C>G) c.*1358C>G (n.*1358C>G) c.*984C>G (n.*984C>G) c.1690C>G (p.Arg564Gly) c.1004C>G (p.Thr335Arg) c.1925C>G (p.Thr642Arg) c.1082C>G (p.Thr361Arg) c.973C>G (p.Arg325Gly) n.2029C>G n.2303C>G | |
| 14 | g.90043115C>T | CA7304137 | TDP1 | c.1799C>T (p.Thr600Met) c.*75C>T (n.*75C>T) c.*1122C>T (n.*1122C>T) c.*1358C>T (n.*1358C>T) c.*984C>T (n.*984C>T) c.1690C>T (p.Arg564Cys) c.1004C>T (p.Thr335Met) c.1925C>T (p.Thr642Met) c.1082C>T (p.Thr361Met) c.973C>T (p.Arg325Cys) n.2029C>T n.2303C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90043116G>A | CA7304138 | TDP1 | c.1800G>A (p.Thr600=) c.*76G>A (n.*76G>A) c.*1123G>A (n.*1123G>A) c.*1359G>A (n.*1359G>A) c.*985G>A (n.*985G>A) c.1691G>A (p.Arg564His) c.1005G>A (p.Thr335=) c.1926G>A (p.Thr642=) c.1083G>A (p.Thr361=) c.974G>A (p.Arg325His) n.2030G>A n.2304G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90043116G>C | CA390584527 | TDP1 | c.1800G>C (p.Thr600=) c.*76G>C (n.*76G>C) c.*1123G>C (n.*1123G>C) c.*1359G>C (n.*1359G>C) c.*985G>C (n.*985G>C) c.1691G>C (p.Arg564Pro) c.1005G>C (p.Thr335=) c.1926G>C (p.Thr642=) c.1083G>C (p.Thr361=) c.974G>C (p.Arg325Pro) n.2030G>C n.2304G>C | dbSNP gnomAD v4 |
| 14 | g.90043116G= | CA2154324045 | TDP1 | c.1800G= (p.Thr600=) c.*76G= (n.*76G=) c.*1123G= (n.*1123G=) c.*1359G= (n.*1359G=) c.*985G= (n.*985G=) c.1691G= (p.Arg564=) c.1005G= (p.Thr335=) c.1926G= (p.Thr642=) c.1083G= (p.Thr361=) c.974G= (p.Arg325=) n.2030G= n.2304G= | |
| 14 | g.90043116G>T | CA390584531 | TDP1 | c.1800G>T (p.Thr600=) c.*76G>T (n.*76G>T) c.*1123G>T (n.*1123G>T) c.*1359G>T (n.*1359G>T) c.*985G>T (n.*985G>T) c.1691G>T (p.Arg564Leu) c.1005G>T (p.Thr335=) c.1926G>T (p.Thr642=) c.1083G>T (p.Thr361=) c.974G>T (p.Arg325Leu) n.2030G>T n.2304G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90043117C>A | CA390584541 | TDP1 | c.1801C>A (p.His601Asn) c.*77C>A (n.*77C>A) c.*1124C>A (n.*1124C>A) c.*1360C>A (n.*1360C>A) c.*986C>A (n.*986C>A) c.1692C>A (p.Arg564=) c.1006C>A (p.His336Asn) c.1927C>A (p.His643Asn) c.1084C>A (p.His362Asn) c.975C>A (p.Arg325=) n.2031C>A n.2305C>A | |
| 14 | g.90043117C= | CA2154324046 | TDP1 | c.1801C= (p.His601=) c.*77C= (n.*77C=) c.*1124C= (n.*1124C=) c.*1360C= (n.*1360C=) c.*986C= (n.*986C=) c.1692C= (p.Arg564=) c.1006C= (p.His336=) c.1927C= (p.His643=) c.1084C= (p.His362=) c.975C= (p.Arg325=) n.2031C= n.2305C= | |
| 14 | g.90043117C>G | CA390584546 | TDP1 | c.1801C>G (p.His601Asp) c.*77C>G (n.*77C>G) c.*1124C>G (n.*1124C>G) c.*1360C>G (n.*1360C>G) c.*986C>G (n.*986C>G) c.1692C>G (p.Arg564=) c.1006C>G (p.His336Asp) c.1927C>G (p.His643Asp) c.1084C>G (p.His362Asp) c.975C>G (p.Arg325=) n.2031C>G n.2305C>G | |
| 14 | g.90043117C>T | CA390584544 | TDP1 | c.1801C>T (p.His601Tyr) c.*77C>T (n.*77C>T) c.*1124C>T (n.*1124C>T) c.*1360C>T (n.*1360C>T) c.*986C>T (n.*986C>T) c.1692C>T (p.Arg564=) c.1006C>T (p.His336Tyr) c.1927C>T (p.His643Tyr) c.1084C>T (p.His362Tyr) c.975C>T (p.Arg325=) n.2031C>T n.2305C>T | dbSNP |
| 14 | g.90043118A= | CA2154324047 | TDP1 | c.1802A= (p.His601=) c.*78A= (n.*78A=) c.*1125A= (n.*1125A=) c.*1361A= (n.*1361A=) c.*987A= (n.*987A=) c.1693A= (p.Met565=) c.1007A= (p.His336=) c.1928A= (p.His643=) c.1085A= (p.His362=) c.976A= (p.Met326=) n.2032A= n.2306A= | |
| 14 | g.90043118A>C | CA390584551 | TDP1 | c.1802A>C (p.His601Pro) c.*78A>C (n.*78A>C) c.*1125A>C (n.*1125A>C) c.*1361A>C (n.*1361A>C) c.*987A>C (n.*987A>C) c.1693A>C (p.Met565Leu) c.1007A>C (p.His336Pro) c.1928A>C (p.His643Pro) c.1085A>C (p.His362Pro) c.976A>C (p.Met326Leu) n.2032A>C n.2306A>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.90043118A>G | CA7304139 | TDP1 | c.1802A>G (p.His601Arg) c.*78A>G (n.*78A>G) c.*1125A>G (n.*1125A>G) c.*1361A>G (n.*1361A>G) c.*987A>G (n.*987A>G) c.1693A>G (p.Met565Val) c.1007A>G (p.His336Arg) c.1928A>G (p.His643Arg) c.1085A>G (p.His362Arg) c.976A>G (p.Met326Val) n.2032A>G n.2306A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90043118A>T | CA390584555 | TDP1 | c.1802A>T (p.His601Leu) c.*78A>T (n.*78A>T) c.*1125A>T (n.*1125A>T) c.*1361A>T (n.*1361A>T) c.*987A>T (n.*987A>T) c.1693A>T (p.Met565Leu) c.1007A>T (p.His336Leu) c.1928A>T (p.His643Leu) c.1085A>T (p.His362Leu) c.976A>T (p.Met326Leu) n.2032A>T n.2306A>T | |
| 14 | g.90043119T>A | CA390584557 | TDP1 | c.1803T>A (p.His601Gln) c.*79T>A (n.*79T>A) c.*1126T>A (n.*1126T>A) c.*1362T>A (n.*1362T>A) c.*988T>A (n.*988T>A) c.1694T>A (p.Met565Lys) c.1008T>A (p.His336Gln) c.1929T>A (p.His643Gln) c.1086T>A (p.His362Gln) c.977T>A (p.Met326Lys) n.2033T>A n.2307T>A | |
| 14 | g.90043119T>C | CA390584559 | TDP1 | c.1803T>C (p.His601=) c.*79T>C (n.*79T>C) c.*1126T>C (n.*1126T>C) c.*1362T>C (n.*1362T>C) c.*988T>C (n.*988T>C) c.1694T>C (p.Met565Thr) c.1008T>C (p.His336=) c.1929T>C (p.His643=) c.1086T>C (p.His362=) c.977T>C (p.Met326Thr) n.2033T>C n.2307T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.90043119T>G | CA390584561 | TDP1 | c.1803T>G (p.His601Gln) c.*79T>G (n.*79T>G) c.*1126T>G (n.*1126T>G) c.*1362T>G (n.*1362T>G) c.*988T>G (n.*988T>G) c.1694T>G (p.Met565Arg) c.1008T>G (p.His336Gln) c.1929T>G (p.His643Gln) c.1086T>G (p.His362Gln) c.977T>G (p.Met326Arg) n.2033T>G n.2307T>G | |
| 14 | g.90043119T= | CA2154324048 | TDP1 | c.1803T= (p.His601=) c.*79T= (n.*79T=) c.*1126T= (n.*1126T=) c.*1362T= (n.*1362T=) c.*988T= (n.*988T=) c.1694T= (p.Met565=) c.1008T= (p.His336=) c.1929T= (p.His643=) c.1086T= (p.His362=) c.977T= (p.Met326=) n.2033T= n.2307T= | |
| 14 | g.90043120G>A | CA390584563 | TDP1 | c.1804G>A (p.Gly602Arg) c.*80G>A (n.*80G>A) c.*1127G>A (n.*1127G>A) c.*1363G>A (n.*1363G>A) c.*989G>A (n.*989G>A) c.1695G>A (p.Met565Ile) c.1009G>A (p.Gly337Arg) c.1930G>A (p.Gly644Arg) c.1087G>A (p.Gly363Arg) c.978G>A (p.Met326Ile) n.2034G>A n.2308G>A | |
| 14 | g.90043120G>C | CA390584564 | TDP1 | c.1804G>C (p.Gly602Arg) c.*80G>C (n.*80G>C) c.*1127G>C (n.*1127G>C) c.*1363G>C (n.*1363G>C) c.*989G>C (n.*989G>C) c.1695G>C (p.Met565Ile) c.1009G>C (p.Gly337Arg) c.1930G>C (p.Gly644Arg) c.1087G>C (p.Gly363Arg) c.978G>C (p.Met326Ile) n.2034G>C n.2308G>C | |
| 14 | g.90043120G>T | CA390584565 | TDP1 | c.1804G>T (p.Gly602Trp) c.*80G>T (n.*80G>T) c.*1127G>T (n.*1127G>T) c.*1363G>T (n.*1363G>T) c.*989G>T (n.*989G>T) c.1695G>T (p.Met565Ile) c.1009G>T (p.Gly337Trp) c.1930G>T (p.Gly644Trp) c.1087G>T (p.Gly363Trp) c.978G>T (p.Met326Ile) n.2034G>T n.2308G>T | |
| 14 | g.90043121G>A | CA390584566 | TDP1 | c.1805G>A (p.Gly602Glu) c.*81G>A (n.*81G>A) c.*1128G>A (n.*1128G>A) c.*1364G>A (n.*1364G>A) c.*990G>A (n.*990G>A) c.1696G>A (p.Gly566Arg) c.1010G>A (p.Gly337Glu) c.1931G>A (p.Gly644Glu) c.1088G>A (p.Gly363Glu) c.979G>A (p.Gly327Arg) n.2035G>A n.2309G>A | |
| 14 | g.90043121G>C | CA390584568 | TDP1 | c.1805G>C (p.Gly602Ala) c.*81G>C (n.*81G>C) c.*1128G>C (n.*1128G>C) c.*1364G>C (n.*1364G>C) c.*990G>C (n.*990G>C) c.1696G>C (p.Gly566Arg) c.1010G>C (p.Gly337Ala) c.1931G>C (p.Gly644Ala) c.1088G>C (p.Gly363Ala) c.979G>C (p.Gly327Arg) n.2035G>C n.2309G>C | |
| 14 | g.90043121G>T | CA390584570 | TDP1 | c.1805G>T (p.Gly602Val) c.*81G>T (n.*81G>T) c.*1128G>T (n.*1128G>T) c.*1364G>T (n.*1364G>T) c.*990G>T (n.*990G>T) c.1696G>T (p.Gly566Ter) c.1010G>T (p.Gly337Val) c.1931G>T (p.Gly644Val) c.1088G>T (p.Gly363Val) c.979G>T (p.Gly327Ter) n.2035G>T n.2309G>T | |
| 14 | g.90043122G>A | CA390584572 | TDP1 | c.1806G>A (p.Gly602=) c.*82G>A (n.*82G>A) c.*1129G>A (n.*1129G>A) c.*1365G>A (n.*1365G>A) c.*991G>A (n.*991G>A) c.1697G>A (p.Gly566Glu) c.1011G>A (p.Gly337=) c.1932G>A (p.Gly644=) c.1089G>A (p.Gly363=) c.980G>A (p.Gly327Glu) n.2036G>A n.2310G>A | |
| 14 | g.90043122G>C | CA390584576 | TDP1 | c.1806G>C (p.Gly602=) c.*82G>C (n.*82G>C) c.*1129G>C (n.*1129G>C) c.*1365G>C (n.*1365G>C) c.*991G>C (n.*991G>C) c.1697G>C (p.Gly566Ala) c.1011G>C (p.Gly337=) c.1932G>C (p.Gly644=) c.1089G>C (p.Gly363=) c.980G>C (p.Gly327Ala) n.2036G>C n.2310G>C | |
| 14 | g.90043122G>T | CA390584574 | TDP1 | c.1806G>T (p.Gly602=) c.*82G>T (n.*82G>T) c.*1129G>T (n.*1129G>T) c.*1365G>T (n.*1365G>T) c.*991G>T (n.*991G>T) c.1697G>T (p.Gly566Val) c.1011G>T (p.Gly337=) c.1932G>T (p.Gly644=) c.1089G>T (p.Gly363=) c.980G>T (p.Gly327Val) n.2036G>T n.2310G>T | |
| 14 | g.90043123A>C | CA390584579 | TDP1 | c.1807A>C (p.Asn603His) c.*83A>C (n.*83A>C) c.*1130A>C (n.*1130A>C) c.*1366A>C (n.*1366A>C) c.*992A>C (n.*992A>C) c.1698A>C (p.Gly566=) c.1012A>C (p.Asn338His) c.1933A>C (p.Asn645His) c.1090A>C (p.Asn364His) c.981A>C (p.Gly327=) n.2037A>C n.2311A>C | |
| 14 | g.90043123A>G | CA390584582 | TDP1 | c.1807A>G (p.Asn603Asp) c.*83A>G (n.*83A>G) c.*1130A>G (n.*1130A>G) c.*1366A>G (n.*1366A>G) c.*992A>G (n.*992A>G) c.1698A>G (p.Gly566=) c.1012A>G (p.Asn338Asp) c.1933A>G (p.Asn645Asp) c.1090A>G (p.Asn364Asp) c.981A>G (p.Gly327=) n.2037A>G n.2311A>G | gnomAD v4 |
| 14 | g.90043123A>T | CA390584585 | TDP1 | c.1807A>T (p.Asn603Tyr) c.*83A>T (n.*83A>T) c.*1130A>T (n.*1130A>T) c.*1366A>T (n.*1366A>T) c.*992A>T (n.*992A>T) c.1698A>T (p.Gly566=) c.1012A>T (p.Asn338Tyr) c.1933A>T (p.Asn645Tyr) c.1090A>T (p.Asn364Tyr) c.981A>T (p.Gly327=) n.2037A>T n.2311A>T | |
| 14 | g.90043124A>C | CA390584586 | TDP1 | c.1808A>C (p.Asn603Thr) c.*84A>C (n.*84A>C) c.*1131A>C (n.*1131A>C) c.*1367A>C (n.*1367A>C) c.*993A>C (n.*993A>C) c.1699A>C (p.Thr567Pro) c.1013A>C (p.Asn338Thr) c.1934A>C (p.Asn645Thr) c.1091A>C (p.Asn364Thr) c.982A>C (p.Thr328Pro) n.2038A>C n.2312A>C | |
| 14 | g.90043124A>G | CA390584587 | TDP1 | c.1808A>G (p.Asn603Ser) c.*84A>G (n.*84A>G) c.*1131A>G (n.*1131A>G) c.*1367A>G (n.*1367A>G) c.*993A>G (n.*993A>G) c.1699A>G (p.Thr567Ala) c.1013A>G (p.Asn338Ser) c.1934A>G (p.Asn645Ser) c.1091A>G (p.Asn364Ser) c.982A>G (p.Thr328Ala) n.2038A>G n.2312A>G | |
| 14 | g.90043124A>T | CA390584590 | TDP1 | c.1808A>T (p.Asn603Ile) c.*84A>T (n.*84A>T) c.*1131A>T (n.*1131A>T) c.*1367A>T (n.*1367A>T) c.*993A>T (n.*993A>T) c.1699A>T (p.Thr567Ser) c.1013A>T (p.Asn338Ile) c.1934A>T (p.Asn645Ile) c.1091A>T (p.Asn364Ile) c.982A>T (p.Thr328Ser) n.2038A>T n.2312A>T | |
| 14 | g.90043125C>A | CA390584591 | TDP1 | c.1809C>A (p.Asn603Lys) c.*85C>A (n.*85C>A) c.*1132C>A (n.*1132C>A) c.*1368C>A (n.*1368C>A) c.*994C>A (n.*994C>A) c.1700C>A (p.Thr567Lys) c.1014C>A (p.Asn338Lys) c.1935C>A (p.Asn645Lys) c.1092C>A (p.Asn364Lys) c.983C>A (p.Thr328Lys) n.2039C>A n.2313C>A | |
| 14 | g.90043125C>G | CA390584593 | TDP1 | c.1809C>G (p.Asn603Lys) c.*85C>G (n.*85C>G) c.*1132C>G (n.*1132C>G) c.*1368C>G (n.*1368C>G) c.*994C>G (n.*994C>G) c.1700C>G (p.Thr567Arg) c.1014C>G (p.Asn338Lys) c.1935C>G (p.Asn645Lys) c.1092C>G (p.Asn364Lys) c.983C>G (p.Thr328Arg) n.2039C>G n.2313C>G | |
| 14 | g.90043125C>T | CA390584606 | TDP1 | c.1809C>T (p.Asn603=) c.*85C>T (n.*85C>T) c.*1132C>T (n.*1132C>T) c.*1368C>T (n.*1368C>T) c.*994C>T (n.*994C>T) c.1700C>T (p.Thr567Ile) c.1014C>T (p.Asn338=) c.1935C>T (p.Asn645=) c.1092C>T (p.Asn364=) c.983C>T (p.Thr328Ile) n.2039C>T n.2313C>T | gnomAD v4 |
| 14 | g.90043126A= | CA2154324049 | TDP1 | c.1810A= (p.Met604=) c.*86A= (n.*86A=) c.*1133A= (n.*1133A=) c.*1369A= (n.*1369A=) c.*995A= (n.*995A=) c.1701A= (p.Thr567=) c.1015A= (p.Met339=) c.1936A= (p.Met646=) c.1093A= (p.Met365=) c.984A= (p.Thr328=) n.2040A= n.2314A= | |
| 14 | g.90043126A>C | CA390584609 | TDP1 | c.1810A>C (p.Met604Leu) c.*86A>C (n.*86A>C) c.*1133A>C (n.*1133A>C) c.*1369A>C (n.*1369A>C) c.*995A>C (n.*995A>C) c.1701A>C (p.Thr567=) c.1015A>C (p.Met339Leu) c.1936A>C (p.Met646Leu) c.1093A>C (p.Met365Leu) c.984A>C (p.Thr328=) n.2040A>C n.2314A>C | |
| 14 | g.90043126A>G | CA7304140 | TDP1 | c.1810A>G (p.Met604Val) c.*86A>G (n.*86A>G) c.*1133A>G (n.*1133A>G) c.*1369A>G (n.*1369A>G) c.*995A>G (n.*995A>G) c.1701A>G (p.Thr567=) c.1015A>G (p.Met339Val) c.1936A>G (p.Met646Val) c.1093A>G (p.Met365Val) c.984A>G (p.Thr328=) n.2040A>G n.2314A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.90043126A>T | CA264593836 | TDP1 | c.1810A>T (p.Met604Leu) c.*86A>T (n.*86A>T) c.*1133A>T (n.*1133A>T) c.*1369A>T (n.*1369A>T) c.*995A>T (n.*995A>T) c.1701A>T (p.Thr567=) c.1015A>T (p.Met339Leu) c.1936A>T (p.Met646Leu) c.1093A>T (p.Met365Leu) c.984A>T (p.Thr328=) n.2040A>T n.2314A>T | dbSNP gnomAD v4 |
| 14 | g.90043127T>A | CA390584626 | TDP1 | c.1811T>A (p.Met604Lys) c.*87T>A (n.*87T>A) c.*1134T>A (n.*1134T>A) c.*1370T>A (n.*1370T>A) c.*996T>A (n.*996T>A) c.1702T>A (p.Cys568Ser) c.1016T>A (p.Met339Lys) c.1937T>A (p.Met646Lys) c.1094T>A (p.Met365Lys) c.985T>A (p.Cys329Ser) n.2041T>A n.2315T>A | gnomAD v4 |
| 14 | g.90043127T>C | CA264593840 | TDP1 | c.1811T>C (p.Met604Thr) c.*87T>C (n.*87T>C) c.*1134T>C (n.*1134T>C) c.*1370T>C (n.*1370T>C) c.*996T>C (n.*996T>C) c.1702T>C (p.Cys568Arg) c.1016T>C (p.Met339Thr) c.1937T>C (p.Met646Thr) c.1094T>C (p.Met365Thr) c.985T>C (p.Cys329Arg) n.2041T>C n.2315T>C | dbSNP gnomAD v4 |
| 14 | g.90043127T>G | CA390584622 | TDP1 | c.1811T>G (p.Met604Arg) c.*87T>G (n.*87T>G) c.*1134T>G (n.*1134T>G) c.*1370T>G (n.*1370T>G) c.*996T>G (n.*996T>G) c.1702T>G (p.Cys568Gly) c.1016T>G (p.Met339Arg) c.1937T>G (p.Met646Arg) c.1094T>G (p.Met365Arg) c.985T>G (p.Cys329Gly) n.2041T>G n.2315T>G | |
| 14 | g.90043127T= | CA2154324050 | TDP1 | c.1811T= (p.Met604=) c.*87T= (n.*87T=) c.*1134T= (n.*1134T=) c.*1370T= (n.*1370T=) c.*996T= (n.*996T=) c.1702T= (p.Cys568=) c.1016T= (p.Met339=) c.1937T= (p.Met646=) c.1094T= (p.Met365=) c.985T= (p.Cys329=) n.2041T= n.2315T= | |
| 14 | g.90043128G>A | CA390584628 | TDP1 | c.1812G>A (p.Met604Ile) c.*88G>A (n.*88G>A) c.*1135G>A (n.*1135G>A) c.*1371G>A (n.*1371G>A) c.*997G>A (n.*997G>A) c.1703G>A (p.Cys568Tyr) c.1017G>A (p.Met339Ile) c.1938G>A (p.Met646Ile) c.1095G>A (p.Met365Ile) c.986G>A (p.Cys329Tyr) n.2042G>A n.2316G>A | |
| 14 | g.90043128G>C | CA390584629 | TDP1 | c.1812G>C (p.Met604Ile) c.*88G>C (n.*88G>C) c.*1135G>C (n.*1135G>C) c.*1371G>C (n.*1371G>C) c.*997G>C (n.*997G>C) c.1703G>C (p.Cys568Ser) c.1017G>C (p.Met339Ile) c.1938G>C (p.Met646Ile) c.1095G>C (p.Met365Ile) c.986G>C (p.Cys329Ser) n.2042G>C n.2316G>C | |
| 14 | g.90043128G>T | CA390584630 | TDP1 | c.1812G>T (p.Met604Ile) c.*88G>T (n.*88G>T) c.*1135G>T (n.*1135G>T) c.*1371G>T (n.*1371G>T) c.*997G>T (n.*997G>T) c.1703G>T (p.Cys568Phe) c.1017G>T (p.Met339Ile) c.1938G>T (p.Met646Ile) c.1095G>T (p.Met365Ile) c.986G>T (p.Cys329Phe) n.2042G>T n.2316G>T |