| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.70059913G>A | CA8995115 | RTTN | c.4877C>T (p.Thr1626Met) c.964C>T (n.964C>T) n.2423C>T c.31C>T c.2276C>T (p.Thr759Met) c.2229C>T (n.2229C>T) c.*3191C>T (n.*3191C>T) c.4158C>T (n.4158C>T) c.2141C>T (p.Thr714Met) c.4880C>T (p.Thr1627Met) c.4640C>T (p.Thr1547Met) c.4451C>T (p.Thr1484Met) c.3380C>T (p.Thr1127Met) n.4918C>T c.4637C>T (p.Thr1546Met) c.4238C>T (p.Thr1413Met) c.3815C>T (p.Thr1272Met) c.2771C>T (p.Thr924Met) c.4100C>T (p.Thr1367Met) n.4948C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.70059913G>C | CA402694527 | RTTN | c.4877C>G (p.Thr1626Arg) c.964C>G (n.964C>G) n.2423C>G c.31C>G c.2276C>G (p.Thr759Arg) c.2229C>G (n.2229C>G) c.*3191C>G (n.*3191C>G) c.4158C>G (n.4158C>G) c.2141C>G (p.Thr714Arg) c.4880C>G (p.Thr1627Arg) c.4640C>G (p.Thr1547Arg) c.4451C>G (p.Thr1484Arg) c.3380C>G (p.Thr1127Arg) n.4918C>G c.4637C>G (p.Thr1546Arg) c.4238C>G (p.Thr1413Arg) c.3815C>G (p.Thr1272Arg) c.2771C>G (p.Thr924Arg) c.4100C>G (p.Thr1367Arg) n.4948C>G | |
| 18 | g.70059913G= | CA2311957289 | RTTN | c.4877C= (p.Thr1626=) c.964C= (n.964C=) n.2423C= c.31C= c.2276C= (p.Thr759=) c.2229C= (n.2229C=) c.*3191C= (n.*3191C=) c.4158C= (n.4158C=) c.2141C= (p.Thr714=) c.4880C= (p.Thr1627=) c.4640C= (p.Thr1547=) c.4451C= (p.Thr1484=) c.3380C= (p.Thr1127=) n.4918C= c.4637C= (p.Thr1546=) c.4238C= (p.Thr1413=) c.3815C= (p.Thr1272=) c.2771C= (p.Thr924=) c.4100C= (p.Thr1367=) n.4948C= | |
| 18 | g.70059913G>T | CA301946471 | RTTN | c.4877C>A (p.Thr1626Lys) c.964C>A (n.964C>A) n.2423C>A c.31C>A c.2276C>A (p.Thr759Lys) c.2229C>A (n.2229C>A) c.*3191C>A (n.*3191C>A) c.4158C>A (n.4158C>A) c.2141C>A (p.Thr714Lys) c.4880C>A (p.Thr1627Lys) c.4640C>A (p.Thr1547Lys) c.4451C>A (p.Thr1484Lys) c.3380C>A (p.Thr1127Lys) n.4918C>A c.4637C>A (p.Thr1546Lys) c.4238C>A (p.Thr1413Lys) c.3815C>A (p.Thr1272Lys) c.2771C>A (p.Thr924Lys) c.4100C>A (p.Thr1367Lys) n.4948C>A | dbSNP |
| 18 | g.70059914T>A | CA402694531 | RTTN | c.4876A>T (p.Thr1626Ser) c.963A>T (p.Ter321Cys) n.2422A>T c.30A>T c.2275A>T (p.Thr759Ser) c.2228A>T (n.2228A>T) c.*3190A>T (n.*3190A>T) c.4157A>T (n.4157A>T) c.2140A>T (p.Thr714Ser) c.4879A>T (p.Thr1627Ser) c.4639A>T (p.Thr1547Ser) c.4450A>T (p.Thr1484Ser) c.3379A>T (p.Thr1127Ser) n.4917A>T c.4636A>T (p.Thr1546Ser) c.4237A>T (p.Thr1413Ser) c.3814A>T (p.Thr1272Ser) c.2770A>T (p.Thr924Ser) c.4099A>T (p.Thr1367Ser) n.4947A>T | |
| 18 | g.70059914T>C | CA402694533 | RTTN | c.4876A>G (p.Thr1626Ala) c.963A>G (p.Ter321Trp) n.2422A>G c.30A>G c.2275A>G (p.Thr759Ala) c.2228A>G (n.2228A>G) c.*3190A>G (n.*3190A>G) c.4157A>G (n.4157A>G) c.2140A>G (p.Thr714Ala) c.4879A>G (p.Thr1627Ala) c.4639A>G (p.Thr1547Ala) c.4450A>G (p.Thr1484Ala) c.3379A>G (p.Thr1127Ala) n.4917A>G c.4636A>G (p.Thr1546Ala) c.4237A>G (p.Thr1413Ala) c.3814A>G (p.Thr1272Ala) c.2770A>G (p.Thr924Ala) c.4099A>G (p.Thr1367Ala) n.4947A>G | |
| 18 | g.70059914T>G | CA402694535 | RTTN | c.4876A>C (p.Thr1626Pro) c.963A>C (p.Ter321Cys) n.2422A>C c.30A>C c.2275A>C (p.Thr759Pro) c.2228A>C (n.2228A>C) c.*3190A>C (n.*3190A>C) c.4157A>C (n.4157A>C) c.2140A>C (p.Thr714Pro) c.4879A>C (p.Thr1627Pro) c.4639A>C (p.Thr1547Pro) c.4450A>C (p.Thr1484Pro) c.3379A>C (p.Thr1127Pro) n.4917A>C c.4636A>C (p.Thr1546Pro) c.4237A>C (p.Thr1413Pro) c.3814A>C (p.Thr1272Pro) c.2770A>C (p.Thr924Pro) c.4099A>C (p.Thr1367Pro) n.4947A>C | |
| 18 | g.70059915C>A | CA402694537 | RTTN | c.4875G>T (p.Leu1625Phe) c.962G>T (p.Ter321Leu) n.2421G>T c.29G>T c.2274G>T (p.Leu758Phe) c.2227G>T (n.2227G>T) c.*3189G>T (n.*3189G>T) c.4156G>T (n.4156G>T) c.2139G>T (p.Leu713Phe) c.4878G>T (p.Leu1626Phe) c.4638G>T (p.Leu1546Phe) c.4449G>T (p.Leu1483Phe) c.3378G>T (p.Leu1126Phe) n.4916G>T c.4635G>T (p.Leu1545Phe) c.4236G>T (p.Leu1412Phe) c.3813G>T (p.Leu1271Phe) c.2769G>T (p.Leu923Phe) c.4098G>T (p.Leu1366Phe) n.4946G>T | |
| 18 | g.70059915C= | CA2311957290 | RTTN | c.4875G= (p.Leu1625=) c.962G= (p.Ter321=) n.2421G= c.29G= c.2274G= (p.Leu758=) c.2227G= (n.2227G=) c.*3189G= (n.*3189G=) c.4156G= (n.4156G=) c.2139G= (p.Leu713=) c.4878G= (p.Leu1626=) c.4638G= (p.Leu1546=) c.4449G= (p.Leu1483=) c.3378G= (p.Leu1126=) n.4916G= c.4635G= (p.Leu1545=) c.4236G= (p.Leu1412=) c.3813G= (p.Leu1271=) c.2769G= (p.Leu923=) c.4098G= (p.Leu1366=) n.4946G= | |
| 18 | g.70059915C>G | CA402694539 | RTTN | c.4875G>C (p.Leu1625Phe) c.962G>C (p.Ter321Ser) n.2421G>C c.29G>C c.2274G>C (p.Leu758Phe) c.2227G>C (n.2227G>C) c.*3189G>C (n.*3189G>C) c.4156G>C (n.4156G>C) c.2139G>C (p.Leu713Phe) c.4878G>C (p.Leu1626Phe) c.4638G>C (p.Leu1546Phe) c.4449G>C (p.Leu1483Phe) c.3378G>C (p.Leu1126Phe) n.4916G>C c.4635G>C (p.Leu1545Phe) c.4236G>C (p.Leu1412Phe) c.3813G>C (p.Leu1271Phe) c.2769G>C (p.Leu923Phe) c.4098G>C (p.Leu1366Phe) n.4946G>C | dbSNP |
| 18 | g.70059915C>T | CA504323411 | RTTN | c.4875G>A (p.Leu1625=) c.962G>A (p.Ter321=) n.2421G>A c.29G>A c.2274G>A (p.Leu758=) c.2227G>A (n.2227G>A) c.*3189G>A (n.*3189G>A) c.4156G>A (n.4156G>A) c.2139G>A (p.Leu713=) c.4878G>A (p.Leu1626=) c.4638G>A (p.Leu1546=) c.4449G>A (p.Leu1483=) c.3378G>A (p.Leu1126=) n.4916G>A c.4635G>A (p.Leu1545=) c.4236G>A (p.Leu1412=) c.3813G>A (p.Leu1271=) c.2769G>A (p.Leu923=) c.4098G>A (p.Leu1366=) n.4946G>A | |
| 18 | g.70059922_70059933del | CA2576524749 | RTTN | c.4864_4875del (p.Asp1622_Leu1625del) c.951_962del (p.Trp317Ter) n.2410_2421del c.18_29del c.2263_2274del (p.Asp755_Leu758del) c.2216_2227del (n.2216_2227del) c.*3178_*3189del (n.*3178_*3189del) c.4145_4156del (n.4145_4156del) c.2128_2139del (p.Asp710_Leu713del) c.4867_4878del (p.Asp1623_Leu1626del) c.4627_4638del (p.Asp1543_Leu1546del) c.4438_4449del (p.Asp1480_Leu1483del) c.3367_3378del (p.Asp1123_Leu1126del) n.4905_4916del c.4624_4635del (p.Asp1542_Leu1545del) c.4225_4236del (p.Asp1409_Leu1412del) c.3802_3813del (p.Asp1268_Leu1271del) c.2758_2769del (p.Asp920_Leu923del) c.4087_4098del (p.Asp1363_Leu1366del) n.4935_4946del | |
| 18 | g.70059916A>C | CA402694542 | RTTN | c.4874T>G (p.Leu1625Trp) c.961T>G (p.Ter321Gly) n.2420T>G c.28T>G c.2273T>G (p.Leu758Trp) c.2226T>G (n.2226T>G) c.*3188T>G (n.*3188T>G) c.4155T>G (n.4155T>G) c.2138T>G (p.Leu713Trp) c.4877T>G (p.Leu1626Trp) c.4637T>G (p.Leu1546Trp) c.4448T>G (p.Leu1483Trp) c.3377T>G (p.Leu1126Trp) n.4915T>G c.4634T>G (p.Leu1545Trp) c.4235T>G (p.Leu1412Trp) c.3812T>G (p.Leu1271Trp) c.2768T>G (p.Leu923Trp) c.4097T>G (p.Leu1366Trp) n.4945T>G | |
| 18 | g.70059916A>G | CA402694544 | RTTN | c.4874T>C (p.Leu1625Ser) c.961T>C (p.Ter321Arg) n.2420T>C c.28T>C c.2273T>C (p.Leu758Ser) c.2226T>C (n.2226T>C) c.*3188T>C (n.*3188T>C) c.4155T>C (n.4155T>C) c.2138T>C (p.Leu713Ser) c.4877T>C (p.Leu1626Ser) c.4637T>C (p.Leu1546Ser) c.4448T>C (p.Leu1483Ser) c.3377T>C (p.Leu1126Ser) n.4915T>C c.4634T>C (p.Leu1545Ser) c.4235T>C (p.Leu1412Ser) c.3812T>C (p.Leu1271Ser) c.2768T>C (p.Leu923Ser) c.4097T>C (p.Leu1366Ser) n.4945T>C | gnomAD v4 |
| 18 | g.70059916A>T | CA402694547 | RTTN | c.4874T>A (p.Leu1625Ter) c.961T>A (p.Ter321Arg) n.2420T>A c.28T>A c.2273T>A (p.Leu758Ter) c.2226T>A (n.2226T>A) c.*3188T>A (n.*3188T>A) c.4155T>A (n.4155T>A) c.2138T>A (p.Leu713Ter) c.4877T>A (p.Leu1626Ter) c.4637T>A (p.Leu1546Ter) c.4448T>A (p.Leu1483Ter) c.3377T>A (p.Leu1126Ter) n.4915T>A c.4634T>A (p.Leu1545Ter) c.4235T>A (p.Leu1412Ter) c.3812T>A (p.Leu1271Ter) c.2768T>A (p.Leu923Ter) c.4097T>A (p.Leu1366Ter) n.4945T>A | |
| 18 | g.70059917A>C | CA402694550 | RTTN | c.4873T>G (p.Leu1625Val) c.960T>G (p.Ser320=) n.2419T>G c.27T>G c.2272T>G (p.Leu758Val) c.2225T>G (n.2225T>G) c.*3187T>G (n.*3187T>G) c.4154T>G (n.4154T>G) c.2137T>G (p.Leu713Val) c.4876T>G (p.Leu1626Val) c.4636T>G (p.Leu1546Val) c.4447T>G (p.Leu1483Val) c.3376T>G (p.Leu1126Val) n.4914T>G c.4633T>G (p.Leu1545Val) c.4234T>G (p.Leu1412Val) c.3811T>G (p.Leu1271Val) c.2767T>G (p.Leu923Val) c.4096T>G (p.Leu1366Val) n.4944T>G | |
| 18 | g.70059917A>G | CA504323412 | RTTN | c.4873T>C (p.Leu1625=) c.960T>C (p.Ser320=) n.2419T>C c.27T>C c.2272T>C (p.Leu758=) c.2225T>C (n.2225T>C) c.*3187T>C (n.*3187T>C) c.4154T>C (n.4154T>C) c.2137T>C (p.Leu713=) c.4876T>C (p.Leu1626=) c.4636T>C (p.Leu1546=) c.4447T>C (p.Leu1483=) c.3376T>C (p.Leu1126=) n.4914T>C c.4633T>C (p.Leu1545=) c.4234T>C (p.Leu1412=) c.3811T>C (p.Leu1271=) c.2767T>C (p.Leu923=) c.4096T>C (p.Leu1366=) n.4944T>C | |
| 18 | g.70059917A>T | CA402694552 | RTTN | c.4873T>A (p.Leu1625Met) c.960T>A (p.Ser320=) n.2419T>A c.27T>A c.2272T>A (p.Leu758Met) c.2225T>A (n.2225T>A) c.*3187T>A (n.*3187T>A) c.4154T>A (n.4154T>A) c.2137T>A (p.Leu713Met) c.4876T>A (p.Leu1626Met) c.4636T>A (p.Leu1546Met) c.4447T>A (p.Leu1483Met) c.3376T>A (p.Leu1126Met) n.4914T>A c.4633T>A (p.Leu1545Met) c.4234T>A (p.Leu1412Met) c.3811T>A (p.Leu1271Met) c.2767T>A (p.Leu923Met) c.4096T>A (p.Leu1366Met) n.4944T>A | |
| 18 | g.70059918G>A | CA504323413 | RTTN | c.4872C>T (p.Leu1624=) c.959C>T (p.Ser320Phe) n.2418C>T c.26C>T c.2271C>T (p.Leu757=) c.2224C>T (n.2224C>T) c.*3186C>T (n.*3186C>T) c.4153C>T (n.4153C>T) c.2136C>T (p.Leu712=) c.4875C>T (p.Leu1625=) c.4635C>T (p.Leu1545=) c.4446C>T (p.Leu1482=) c.3375C>T (p.Leu1125=) n.4913C>T c.4632C>T (p.Leu1544=) c.4233C>T (p.Leu1411=) c.3810C>T (p.Leu1270=) c.2766C>T (p.Leu922=) c.4095C>T (p.Leu1365=) n.4943C>T | |
| 18 | g.70059918G>C | CA504323414 | RTTN | c.4872C>G (p.Leu1624=) c.959C>G (p.Ser320Cys) n.2418C>G c.26C>G c.2271C>G (p.Leu757=) c.2224C>G (n.2224C>G) c.*3186C>G (n.*3186C>G) c.4153C>G (n.4153C>G) c.2136C>G (p.Leu712=) c.4875C>G (p.Leu1625=) c.4635C>G (p.Leu1545=) c.4446C>G (p.Leu1482=) c.3375C>G (p.Leu1125=) n.4913C>G c.4632C>G (p.Leu1544=) c.4233C>G (p.Leu1411=) c.3810C>G (p.Leu1270=) c.2766C>G (p.Leu922=) c.4095C>G (p.Leu1365=) n.4943C>G | |
| 18 | g.70059918G>T | CA504323415 | RTTN | c.4872C>A (p.Leu1624=) c.959C>A (p.Ser320Tyr) n.2418C>A c.26C>A c.2271C>A (p.Leu757=) c.2224C>A (n.2224C>A) c.*3186C>A (n.*3186C>A) c.4153C>A (n.4153C>A) c.2136C>A (p.Leu712=) c.4875C>A (p.Leu1625=) c.4635C>A (p.Leu1545=) c.4446C>A (p.Leu1482=) c.3375C>A (p.Leu1125=) n.4913C>A c.4632C>A (p.Leu1544=) c.4233C>A (p.Leu1411=) c.3810C>A (p.Leu1270=) c.2766C>A (p.Leu922=) c.4095C>A (p.Leu1365=) n.4943C>A | |
| 18 | g.70059919A>C | CA402694557 | RTTN | c.4871T>G (p.Leu1624Arg) c.958T>G (p.Ser320Ala) n.2417T>G c.25T>G c.2270T>G (p.Leu757Arg) c.2223T>G (n.2223T>G) c.*3185T>G (n.*3185T>G) c.4152T>G (n.4152T>G) c.2135T>G (p.Leu712Arg) c.4874T>G (p.Leu1625Arg) c.4634T>G (p.Leu1545Arg) c.4445T>G (p.Leu1482Arg) c.3374T>G (p.Leu1125Arg) n.4912T>G c.4631T>G (p.Leu1544Arg) c.4232T>G (p.Leu1411Arg) c.3809T>G (p.Leu1270Arg) c.2765T>G (p.Leu922Arg) c.4094T>G (p.Leu1365Arg) n.4942T>G | |
| 18 | g.70059919A>G | CA402694559 | RTTN | c.4871T>C (p.Leu1624Pro) c.958T>C (p.Ser320Pro) n.2417T>C c.25T>C c.2270T>C (p.Leu757Pro) c.2223T>C (n.2223T>C) c.*3185T>C (n.*3185T>C) c.4152T>C (n.4152T>C) c.2135T>C (p.Leu712Pro) c.4874T>C (p.Leu1625Pro) c.4634T>C (p.Leu1545Pro) c.4445T>C (p.Leu1482Pro) c.3374T>C (p.Leu1125Pro) n.4912T>C c.4631T>C (p.Leu1544Pro) c.4232T>C (p.Leu1411Pro) c.3809T>C (p.Leu1270Pro) c.2765T>C (p.Leu922Pro) c.4094T>C (p.Leu1365Pro) n.4942T>C | gnomAD v4 |
| 18 | g.70059919A>T | CA402694562 | RTTN | c.4871T>A (p.Leu1624His) c.958T>A (p.Ser320Thr) n.2417T>A c.25T>A c.2270T>A (p.Leu757His) c.2223T>A (n.2223T>A) c.*3185T>A (n.*3185T>A) c.4152T>A (n.4152T>A) c.2135T>A (p.Leu712His) c.4874T>A (p.Leu1625His) c.4634T>A (p.Leu1545His) c.4445T>A (p.Leu1482His) c.3374T>A (p.Leu1125His) n.4912T>A c.4631T>A (p.Leu1544His) c.4232T>A (p.Leu1411His) c.3809T>A (p.Leu1270His) c.2765T>A (p.Leu922His) c.4094T>A (p.Leu1365His) n.4942T>A | |
| 18 | g.70059920G>A | CA402694568 | RTTN | c.4870C>T (p.Leu1624Phe) c.957C>T (p.Thr319=) n.2416C>T c.24C>T c.2269C>T (p.Leu757Phe) c.2222C>T (n.2222C>T) c.*3184C>T (n.*3184C>T) c.4151C>T (n.4151C>T) c.2134C>T (p.Leu712Phe) c.4873C>T (p.Leu1625Phe) c.4633C>T (p.Leu1545Phe) c.4444C>T (p.Leu1482Phe) c.3373C>T (p.Leu1125Phe) n.4911C>T c.4630C>T (p.Leu1544Phe) c.4231C>T (p.Leu1411Phe) c.3808C>T (p.Leu1270Phe) c.2764C>T (p.Leu922Phe) c.4093C>T (p.Leu1365Phe) n.4941C>T | |
| 18 | g.70059920G>C | CA402694569 | RTTN | c.4870C>G (p.Leu1624Val) c.957C>G (p.Thr319=) n.2416C>G c.24C>G c.2269C>G (p.Leu757Val) c.2222C>G (n.2222C>G) c.*3184C>G (n.*3184C>G) c.4151C>G (n.4151C>G) c.2134C>G (p.Leu712Val) c.4873C>G (p.Leu1625Val) c.4633C>G (p.Leu1545Val) c.4444C>G (p.Leu1482Val) c.3373C>G (p.Leu1125Val) n.4911C>G c.4630C>G (p.Leu1544Val) c.4231C>G (p.Leu1411Val) c.3808C>G (p.Leu1270Val) c.2764C>G (p.Leu922Val) c.4093C>G (p.Leu1365Val) n.4941C>G | |
| 18 | g.70059920G>T | CA402694566 | RTTN | c.4870C>A (p.Leu1624Ile) c.957C>A (p.Thr319=) n.2416C>A c.24C>A c.2269C>A (p.Leu757Ile) c.2222C>A (n.2222C>A) c.*3184C>A (n.*3184C>A) c.4151C>A (n.4151C>A) c.2134C>A (p.Leu712Ile) c.4873C>A (p.Leu1625Ile) c.4633C>A (p.Leu1545Ile) c.4444C>A (p.Leu1482Ile) c.3373C>A (p.Leu1125Ile) n.4911C>A c.4630C>A (p.Leu1544Ile) c.4231C>A (p.Leu1411Ile) c.3808C>A (p.Leu1270Ile) c.2764C>A (p.Leu922Ile) c.4093C>A (p.Leu1365Ile) n.4941C>A | |
| 18 | g.70059921G>A | CA504323416 | RTTN | c.4869C>T (p.Asn1623=) c.956C>T (p.Thr319Ile) n.2415C>T c.23C>T c.2268C>T (p.Asn756=) c.2221C>T (n.2221C>T) c.*3183C>T (n.*3183C>T) c.4150C>T (n.4150C>T) c.2133C>T (p.Asn711=) c.4872C>T (p.Asn1624=) c.4632C>T (p.Asn1544=) c.4443C>T (p.Asn1481=) c.3372C>T (p.Asn1124=) n.4910C>T c.4629C>T (p.Asn1543=) c.4230C>T (p.Asn1410=) c.3807C>T (p.Asn1269=) c.2763C>T (p.Asn921=) c.4092C>T (p.Asn1364=) n.4940C>T | |
| 18 | g.70059921G>C | CA402694574 | RTTN | c.4869C>G (p.Asn1623Lys) c.956C>G (p.Thr319Ser) n.2415C>G c.23C>G c.2268C>G (p.Asn756Lys) c.2221C>G (n.2221C>G) c.*3183C>G (n.*3183C>G) c.4150C>G (n.4150C>G) c.2133C>G (p.Asn711Lys) c.4872C>G (p.Asn1624Lys) c.4632C>G (p.Asn1544Lys) c.4443C>G (p.Asn1481Lys) c.3372C>G (p.Asn1124Lys) n.4910C>G c.4629C>G (p.Asn1543Lys) c.4230C>G (p.Asn1410Lys) c.3807C>G (p.Asn1269Lys) c.2763C>G (p.Asn921Lys) c.4092C>G (p.Asn1364Lys) n.4940C>G | |
| 18 | g.70059921G>T | CA402694572 | RTTN | c.4869C>A (p.Asn1623Lys) c.956C>A (p.Thr319Asn) n.2415C>A c.23C>A c.2268C>A (p.Asn756Lys) c.2221C>A (n.2221C>A) c.*3183C>A (n.*3183C>A) c.4150C>A (n.4150C>A) c.2133C>A (p.Asn711Lys) c.4872C>A (p.Asn1624Lys) c.4632C>A (p.Asn1544Lys) c.4443C>A (p.Asn1481Lys) c.3372C>A (p.Asn1124Lys) n.4910C>A c.4629C>A (p.Asn1543Lys) c.4230C>A (p.Asn1410Lys) c.3807C>A (p.Asn1269Lys) c.2763C>A (p.Asn921Lys) c.4092C>A (p.Asn1364Lys) n.4940C>A | |
| 18 | g.70059922T>A | CA402694577 | RTTN | c.4868A>T (p.Asn1623Ile) c.955A>T (p.Thr319Ser) n.2414A>T c.22A>T c.2267A>T (p.Asn756Ile) c.2220A>T (n.2220A>T) c.*3182A>T (n.*3182A>T) c.4149A>T (n.4149A>T) c.2132A>T (p.Asn711Ile) c.4871A>T (p.Asn1624Ile) c.4631A>T (p.Asn1544Ile) c.4442A>T (p.Asn1481Ile) c.3371A>T (p.Asn1124Ile) n.4909A>T c.4628A>T (p.Asn1543Ile) c.4229A>T (p.Asn1410Ile) c.3806A>T (p.Asn1269Ile) c.2762A>T (p.Asn921Ile) c.4091A>T (p.Asn1364Ile) n.4939A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.70059922T>C | CA402694580 | RTTN | c.4868A>G (p.Asn1623Ser) c.955A>G (p.Thr319Ala) n.2414A>G c.22A>G c.2267A>G (p.Asn756Ser) c.2220A>G (n.2220A>G) c.*3182A>G (n.*3182A>G) c.4149A>G (n.4149A>G) c.2132A>G (p.Asn711Ser) c.4871A>G (p.Asn1624Ser) c.4631A>G (p.Asn1544Ser) c.4442A>G (p.Asn1481Ser) c.3371A>G (p.Asn1124Ser) n.4909A>G c.4628A>G (p.Asn1543Ser) c.4229A>G (p.Asn1410Ser) c.3806A>G (p.Asn1269Ser) c.2762A>G (p.Asn921Ser) c.4091A>G (p.Asn1364Ser) n.4939A>G | dbSNP |
| 18 | g.70059922T>G | CA402694581 | RTTN | c.4868A>C (p.Asn1623Thr) c.955A>C (p.Thr319Pro) n.2414A>C c.22A>C c.2267A>C (p.Asn756Thr) c.2220A>C (n.2220A>C) c.*3182A>C (n.*3182A>C) c.4149A>C (n.4149A>C) c.2132A>C (p.Asn711Thr) c.4871A>C (p.Asn1624Thr) c.4631A>C (p.Asn1544Thr) c.4442A>C (p.Asn1481Thr) c.3371A>C (p.Asn1124Thr) n.4909A>C c.4628A>C (p.Asn1543Thr) c.4229A>C (p.Asn1410Thr) c.3806A>C (p.Asn1269Thr) c.2762A>C (p.Asn921Thr) c.4091A>C (p.Asn1364Thr) n.4939A>C | |
| 18 | g.70059922T= | CA2311957291 | RTTN | c.4868A= (p.Asn1623=) c.955A= (p.Thr319=) n.2414A= c.22A= c.2267A= (p.Asn756=) c.2220A= (n.2220A=) c.*3182A= (n.*3182A=) c.4149A= (n.4149A=) c.2132A= (p.Asn711=) c.4871A= (p.Asn1624=) c.4631A= (p.Asn1544=) c.4442A= (p.Asn1481=) c.3371A= (p.Asn1124=) n.4909A= c.4628A= (p.Asn1543=) c.4229A= (p.Asn1410=) c.3806A= (p.Asn1269=) c.2762A= (p.Asn921=) c.4091A= (p.Asn1364=) n.4939A= | |
| 18 | g.70059923T>A | CA402694583 | RTTN | c.4867A>T (p.Asn1623Tyr) c.954A>T (p.Thr318=) n.2413A>T c.21A>T c.2266A>T (p.Asn756Tyr) c.2219A>T (n.2219A>T) c.*3181A>T (n.*3181A>T) c.4148A>T (n.4148A>T) c.2131A>T (p.Asn711Tyr) c.4870A>T (p.Asn1624Tyr) c.4630A>T (p.Asn1544Tyr) c.4441A>T (p.Asn1481Tyr) c.3370A>T (p.Asn1124Tyr) n.4908A>T c.4627A>T (p.Asn1543Tyr) c.4228A>T (p.Asn1410Tyr) c.3805A>T (p.Asn1269Tyr) c.2761A>T (p.Asn921Tyr) c.4090A>T (p.Asn1364Tyr) n.4938A>T | |
| 18 | g.70059923T>C | CA402694585 | RTTN | c.4867A>G (p.Asn1623Asp) c.954A>G (p.Thr318=) n.2413A>G c.21A>G c.2266A>G (p.Asn756Asp) c.2219A>G (n.2219A>G) c.*3181A>G (n.*3181A>G) c.4148A>G (n.4148A>G) c.2131A>G (p.Asn711Asp) c.4870A>G (p.Asn1624Asp) c.4630A>G (p.Asn1544Asp) c.4441A>G (p.Asn1481Asp) c.3370A>G (p.Asn1124Asp) n.4908A>G c.4627A>G (p.Asn1543Asp) c.4228A>G (p.Asn1410Asp) c.3805A>G (p.Asn1269Asp) c.2761A>G (p.Asn921Asp) c.4090A>G (p.Asn1364Asp) n.4938A>G | |
| 18 | g.70059923T>G | CA402694587 | RTTN | c.4867A>C (p.Asn1623His) c.954A>C (p.Thr318=) n.2413A>C c.21A>C c.2266A>C (p.Asn756His) c.2219A>C (n.2219A>C) c.*3181A>C (n.*3181A>C) c.4148A>C (n.4148A>C) c.2131A>C (p.Asn711His) c.4870A>C (p.Asn1624His) c.4630A>C (p.Asn1544His) c.4441A>C (p.Asn1481His) c.3370A>C (p.Asn1124His) n.4908A>C c.4627A>C (p.Asn1543His) c.4228A>C (p.Asn1410His) c.3805A>C (p.Asn1269His) c.2761A>C (p.Asn921His) c.4090A>C (p.Asn1364His) n.4938A>C | |
| 18 | g.70059924G>A | CA504323417 | RTTN | c.4866C>T (p.Asp1622=) c.953C>T (p.Thr318Ile) n.2412C>T c.20C>T c.2265C>T (p.Asp755=) c.2218C>T (n.2218C>T) c.*3180C>T (n.*3180C>T) c.4147C>T (n.4147C>T) c.2130C>T (p.Asp710=) c.4869C>T (p.Asp1623=) c.4629C>T (p.Asp1543=) c.4440C>T (p.Asp1480=) c.3369C>T (p.Asp1123=) n.4907C>T c.4626C>T (p.Asp1542=) c.4227C>T (p.Asp1409=) c.3804C>T (p.Asp1268=) c.2760C>T (p.Asp920=) c.4089C>T (p.Asp1363=) n.4937C>T | dbSNP |
| 18 | g.70059924G>C | CA402694590 | RTTN | c.4866C>G (p.Asp1622Glu) c.953C>G (p.Thr318Arg) n.2412C>G c.20C>G c.2265C>G (p.Asp755Glu) c.2218C>G (n.2218C>G) c.*3180C>G (n.*3180C>G) c.4147C>G (n.4147C>G) c.2130C>G (p.Asp710Glu) c.4869C>G (p.Asp1623Glu) c.4629C>G (p.Asp1543Glu) c.4440C>G (p.Asp1480Glu) c.3369C>G (p.Asp1123Glu) n.4907C>G c.4626C>G (p.Asp1542Glu) c.4227C>G (p.Asp1409Glu) c.3804C>G (p.Asp1268Glu) c.2760C>G (p.Asp920Glu) c.4089C>G (p.Asp1363Glu) n.4937C>G | |
| 18 | g.70059924G>T | CA402694592 | RTTN | c.4866C>A (p.Asp1622Glu) c.953C>A (p.Thr318Lys) n.2412C>A c.20C>A c.2265C>A (p.Asp755Glu) c.2218C>A (n.2218C>A) c.*3180C>A (n.*3180C>A) c.4147C>A (n.4147C>A) c.2130C>A (p.Asp710Glu) c.4869C>A (p.Asp1623Glu) c.4629C>A (p.Asp1543Glu) c.4440C>A (p.Asp1480Glu) c.3369C>A (p.Asp1123Glu) n.4907C>A c.4626C>A (p.Asp1542Glu) c.4227C>A (p.Asp1409Glu) c.3804C>A (p.Asp1268Glu) c.2760C>A (p.Asp920Glu) c.4089C>A (p.Asp1363Glu) n.4937C>A | gnomAD v4 |
| 18 | g.70059925T>A | CA402694594 | RTTN | c.4865A>T (p.Asp1622Val) c.952A>T (p.Thr318Ser) n.2411A>T c.19A>T c.2264A>T (p.Asp755Val) c.2217A>T (n.2217A>T) c.*3179A>T (n.*3179A>T) c.4146A>T (n.4146A>T) c.2129A>T (p.Asp710Val) c.4868A>T (p.Asp1623Val) c.4628A>T (p.Asp1543Val) c.4439A>T (p.Asp1480Val) c.3368A>T (p.Asp1123Val) n.4906A>T c.4625A>T (p.Asp1542Val) c.4226A>T (p.Asp1409Val) c.3803A>T (p.Asp1268Val) c.2759A>T (p.Asp920Val) c.4088A>T (p.Asp1363Val) n.4936A>T | |
| 18 | g.70059925T>C | CA402694596 | RTTN | c.4865A>G (p.Asp1622Gly) c.952A>G (p.Thr318Ala) n.2411A>G c.19A>G c.2264A>G (p.Asp755Gly) c.2217A>G (n.2217A>G) c.*3179A>G (n.*3179A>G) c.4146A>G (n.4146A>G) c.2129A>G (p.Asp710Gly) c.4868A>G (p.Asp1623Gly) c.4628A>G (p.Asp1543Gly) c.4439A>G (p.Asp1480Gly) c.3368A>G (p.Asp1123Gly) n.4906A>G c.4625A>G (p.Asp1542Gly) c.4226A>G (p.Asp1409Gly) c.3803A>G (p.Asp1268Gly) c.2759A>G (p.Asp920Gly) c.4088A>G (p.Asp1363Gly) n.4936A>G | gnomAD v4 |
| 18 | g.70059925T>G | CA402694599 | RTTN | c.4865A>C (p.Asp1622Ala) c.952A>C (p.Thr318Pro) n.2411A>C c.19A>C c.2264A>C (p.Asp755Ala) c.2217A>C (n.2217A>C) c.*3179A>C (n.*3179A>C) c.4146A>C (n.4146A>C) c.2129A>C (p.Asp710Ala) c.4868A>C (p.Asp1623Ala) c.4628A>C (p.Asp1543Ala) c.4439A>C (p.Asp1480Ala) c.3368A>C (p.Asp1123Ala) n.4906A>C c.4625A>C (p.Asp1542Ala) c.4226A>C (p.Asp1409Ala) c.3803A>C (p.Asp1268Ala) c.2759A>C (p.Asp920Ala) c.4088A>C (p.Asp1363Ala) n.4936A>C | |
| 18 | g.70059926C>A | CA402694606 | RTTN | c.4864G>T (p.Asp1622Tyr) c.951G>T (p.Trp317Cys) n.2410G>T c.18G>T c.2263G>T (p.Asp755Tyr) c.2216G>T (n.2216G>T) c.*3178G>T (n.*3178G>T) c.4145G>T (n.4145G>T) c.2128G>T (p.Asp710Tyr) c.4867G>T (p.Asp1623Tyr) c.4627G>T (p.Asp1543Tyr) c.4438G>T (p.Asp1480Tyr) c.3367G>T (p.Asp1123Tyr) n.4905G>T c.4624G>T (p.Asp1542Tyr) c.4225G>T (p.Asp1409Tyr) c.3802G>T (p.Asp1268Tyr) c.2758G>T (p.Asp920Tyr) c.4087G>T (p.Asp1363Tyr) n.4935G>T | |
| 18 | g.70059926C= | CA2311957292 | RTTN | c.4864G= (p.Asp1622=) c.951G= (p.Trp317=) n.2410G= c.18G= c.2263G= (p.Asp755=) c.2216G= (n.2216G=) c.*3178G= (n.*3178G=) c.4145G= (n.4145G=) c.2128G= (p.Asp710=) c.4867G= (p.Asp1623=) c.4627G= (p.Asp1543=) c.4438G= (p.Asp1480=) c.3367G= (p.Asp1123=) n.4905G= c.4624G= (p.Asp1542=) c.4225G= (p.Asp1409=) c.3802G= (p.Asp1268=) c.2758G= (p.Asp920=) c.4087G= (p.Asp1363=) n.4935G= | |
| 18 | g.70059926C>G | CA402694603 | RTTN | c.4864G>C (p.Asp1622His) c.951G>C (p.Trp317Cys) n.2410G>C c.18G>C c.2263G>C (p.Asp755His) c.2216G>C (n.2216G>C) c.*3178G>C (n.*3178G>C) c.4145G>C (n.4145G>C) c.2128G>C (p.Asp710His) c.4867G>C (p.Asp1623His) c.4627G>C (p.Asp1543His) c.4438G>C (p.Asp1480His) c.3367G>C (p.Asp1123His) n.4905G>C c.4624G>C (p.Asp1542His) c.4225G>C (p.Asp1409His) c.3802G>C (p.Asp1268His) c.2758G>C (p.Asp920His) c.4087G>C (p.Asp1363His) n.4935G>C | |
| 18 | g.70059926C>T | CA10603915 | RTTN | c.4864G>A (p.Asp1622Asn) c.951G>A (p.Trp317Ter) n.2410G>A c.18G>A c.2263G>A (p.Asp755Asn) c.2216G>A (n.2216G>A) c.*3178G>A (n.*3178G>A) c.4145G>A (n.4145G>A) c.2128G>A (p.Asp710Asn) c.4867G>A (p.Asp1623Asn) c.4627G>A (p.Asp1543Asn) c.4438G>A (p.Asp1480Asn) c.3367G>A (p.Asp1123Asn) n.4905G>A c.4624G>A (p.Asp1542Asn) c.4225G>A (p.Asp1409Asn) c.3802G>A (p.Asp1268Asn) c.2758G>A (p.Asp920Asn) c.4087G>A (p.Asp1363Asn) n.4935G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.70059927C>A | CA402694609 | RTTN | c.4863G>T (p.Leu1621Phe) c.950G>T (p.Trp317Leu) n.2409G>T c.17G>T c.2262G>T (p.Leu754Phe) c.2215G>T (n.2215G>T) c.*3177G>T (n.*3177G>T) c.4144G>T (n.4144G>T) c.2127G>T (p.Leu709Phe) c.4866G>T (p.Leu1622Phe) c.4626G>T (p.Leu1542Phe) c.4437G>T (p.Leu1479Phe) c.3366G>T (p.Leu1122Phe) n.4904G>T c.4623G>T (p.Leu1541Phe) c.4224G>T (p.Leu1408Phe) c.3801G>T (p.Leu1267Phe) c.2757G>T (p.Leu919Phe) c.4086G>T (p.Leu1362Phe) n.4934G>T | |
| 18 | g.70059927C>G | CA402694611 | RTTN | c.4863G>C (p.Leu1621Phe) c.950G>C (p.Trp317Ser) n.2409G>C c.17G>C c.2262G>C (p.Leu754Phe) c.2215G>C (n.2215G>C) c.*3177G>C (n.*3177G>C) c.4144G>C (n.4144G>C) c.2127G>C (p.Leu709Phe) c.4866G>C (p.Leu1622Phe) c.4626G>C (p.Leu1542Phe) c.4437G>C (p.Leu1479Phe) c.3366G>C (p.Leu1122Phe) n.4904G>C c.4623G>C (p.Leu1541Phe) c.4224G>C (p.Leu1408Phe) c.3801G>C (p.Leu1267Phe) c.2757G>C (p.Leu919Phe) c.4086G>C (p.Leu1362Phe) n.4934G>C | |
| 18 | g.70059927C>T | CA504323420 | RTTN | c.4863G>A (p.Leu1621=) c.950G>A (p.Trp317Ter) n.2409G>A c.17G>A c.2262G>A (p.Leu754=) c.2215G>A (n.2215G>A) c.*3177G>A (n.*3177G>A) c.4144G>A (n.4144G>A) c.2127G>A (p.Leu709=) c.4866G>A (p.Leu1622=) c.4626G>A (p.Leu1542=) c.4437G>A (p.Leu1479=) c.3366G>A (p.Leu1122=) n.4904G>A c.4623G>A (p.Leu1541=) c.4224G>A (p.Leu1408=) c.3801G>A (p.Leu1267=) c.2757G>A (p.Leu919=) c.4086G>A (p.Leu1362=) n.4934G>A |